##fileformat=VCFv4.1 ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##annotator=MARS ##UnifiedGenotyper="analysis_type=UnifiedGenotyper input_file=[D:\Illumina\MiSeqAnalysis\55b50261b4844ff0ab31a3ef0124843b\Data\Intensities\BaseCalls\Alignment\amostra17_S3.bam] read_buffer_size=null phone_home=NO_ET gatk_key=null read_filter=[] intervals=[D:\Illumina\MiSeqAnalysis\55b50261b4844ff0ab31a3ef0124843b\Data\Intensities\BaseCalls\Alignment\Segment_intervals_M1.0.picard] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL reference_sequence=E:\Genomes\Homo_sapiens\UCSC\hg19\Sequence\WholeGenomeFASTA\genome.fa nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=5000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null quantize_quals=-1 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=OFF 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_SITES standard_min_confidence_threshold_for_calling=1.0 standard_min_confidence_threshold_for_emitting=30.0 noSLOD=false annotateNDA=false alleles=(RodBinding name= source=UNBOUND) min_base_quality_score=17 max_deletion_fraction=0.05 max_alternate_alleles=3 min_indel_count_for_genotyping=5 min_indel_fraction_per_sample=0.25 indel_heterozygosity=1.25E-4 indelGapContinuationPenalty=10 indelGapOpenPenalty=45 indelHaplotypeSize=80 noBandedIndel=false indelDebug=false ignoreSNPAlleles=false includeGVCFData=true dbsnp=(RodBinding name= source=UNBOUND) comp=[] 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 metrics_file=null annotation=[] excludeAnnotation=[] filter_mismatching_base_and_quals=false" ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##reference=file://E:\Genomes\Homo_sapiens\UCSC\hg19\Sequence\WholeGenomeFASTA\genome.fa ##gvcftools_version="0.12" ##gvcftools_cmdline="C:\Illumina\MiSeq Reporter\Workflows\EnrichmentWorker\gatk_to_gvcf.exe --no-default-filters --min-qd 0.0000 --min-gqx 10.0000 --min-mq 0.0000" ##source=GATK 1.6 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT amostra17 chr1 977330 rs2799066 T C 3836.54 PASS DP=137;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5009;MQ=51;MQ0=0;QD=28.00;SB=-1838.51;TI=NM_198576;GI=AGRN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:3837,277,0:51:99:1.000 chr1 981931 rs2465128 A G 5776.03 PASS DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=24.9012;MQ=54;MQ0=0;QD=28.88;SB=-3177.94;TI=NM_198576;GI=AGRN;FC=Synonymous_S1022S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,198:200:99:5776,433,0:54:99:1.000 chr1 982994 rs10267 T C 3697.17 PASS DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5215;MQ=54;MQ0=0;QD=28.66;SB=-2197.80;TI=NM_198576;GI=AGRN;FC=Synonymous_F1186F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3697,268,0:54:99:1.000 chr1 984302 rs9442391 T C 2011.84 PASS DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=46;MQ0=0;QD=26.47;SB=-1327.80;TI=NM_198576;GI=AGRN;FC=Synonymous_T1387T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2045,153,0:46:99:1.000 chr1 987200 rs9803031 C T 3075.84 PASS DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2572;MQ=56;MQ0=0;QD=29.86;SB=-1401.25;TI=NM_198576;GI=AGRN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:103:99:3109,226,0:56:99:1.000 chr1 990280 rs4275402 C T 3055.51 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=33.58;SB=-952.79;TI=NM_198576;GI=AGRN;FC=Synonymous_D2019D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:3089,232,0:57:99:1.000 chr1 1147422 rs17568 C T 986.23 PASS BaseQRankSum=0.782;DP=75;Dels=0.00;FS=1.050;HRun=1;HaplotypeScore=1.8305;MQ=59;MQ0=0;MQRankSum=2.549;QD=13.15;ReadPosRankSum=2.230;SB=-221.73;TI=NM_003327;GI=TNFRSF4;FC=Synonymous_E178E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,34:75:99:1016,0,1090:59:99:0.453 chr1 1167812 . C A 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_080605;GI=B3GALT6;FC=Missense_P52T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chr1 1168180 rs12085009 G C 316.33 LowDP BaseQRankSum=-0.996;DP=18;Dels=0.00;FS=1.958;HRun=3;HaplotypeScore=3.8070;MQ=57;MQ0=0;MQRankSum=-0.091;QD=17.57;ReadPosRankSum=-1.087;SB=-163.31;TI=NM_080605;GI=B3GALT6;FC=Missense_E174D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,11:18:99:346,0,197:57:99:0.611 chr1 1267325 . G GC 2183.33 PASS BaseQRankSum=0.887;DP=197;FS=0.000;HRun=6;HaplotypeScore=359.0650;MQ=55;MQ0=0;MQRankSum=1.002;QD=11.08;ReadPosRankSum=1.944;SB=-636.73;TI=NM_152228;GI=TAS1R3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,79:197:99:2222,0,2965:55:99:0.403 chr1 1268159 rs3813210 C T 3019.78 PASS BaseQRankSum=1.719;DP=242;Dels=0.00;FS=1.000;HRun=0;HaplotypeScore=4.5189;MQ=54;MQ0=0;MQRankSum=1.957;QD=12.48;ReadPosRankSum=2.014;SB=-1680.40;TI=NM_152228;GI=TAS1R3;FC=Synonymous_P416P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,118:242:99:3050,0,3245:54:99:0.488 chr1 1268195 rs3813211 G A 2734.20 PASS BaseQRankSum=1.599;DP=196;Dels=0.00;FS=2.587;HRun=0;HaplotypeScore=18.3382;MQ=56;MQ0=0;MQRankSum=1.327;QD=13.95;ReadPosRankSum=-0.892;SB=-1086.02;TI=NM_152228;GI=TAS1R3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,99:196:99:2764,0,2670:56:99:0.505 chr1 1269554 rs307377 T C 9081.49 PASS DP=310;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3454;MQ=57;MQ0=0;QD=29.30;SB=-5104.74;TI=NM_152228;GI=TAS1R3;FC=Missense_C757R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,310:310:99:9081,656,0:57:99:1.000 chr1 1647778 rs72901773 C G 976.00 PASS BaseQRankSum=0.267;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48;MQ0=0;MQRankSum=-5.801;QD=10.97;ReadPosRankSum=0.489;SB=-445.34;TI=NM_033493,NM_033492,NM_033487,NM_033489,NM_033486,NM_033488,NM_024011,NM_033529;GI=CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,43:89:99:1006,0,1224:48:99:0.483 chr1 1647814 rs72901775 T C 1158.00 PASS BaseQRankSum=-0.658;DP=108;Dels=0.00;FS=3.623;HRun=0;HaplotypeScore=5.6171;MQ=47;MQ0=0;MQRankSum=-6.030;QD=10.72;ReadPosRankSum=1.449;SB=-579.24;TI=NM_033493,NM_033492,NM_033487,NM_033489,NM_033486,NM_033488,NM_024011,NM_033529;GI=CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A;FC=Synonymous_E142E,Synonymous_E142E,Silent,Synonymous_E119E,Synonymous_E153E,Synonymous_E108E,Synonymous_E153E,Synonymous_E143E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,52:108:99:1188,0,1292:47:99:0.486 chr1 1647871 rs72909014 T C 747.70 PASS BaseQRankSum=1.743;DP=109;Dels=0.00;FS=12.454;HRun=1;HaplotypeScore=0.8941;MQ=48;MQ0=0;MQRankSum=-5.687;QD=6.86;ReadPosRankSum=-3.908;SB=-195.42;TI=NM_033493,NM_033492,NM_033487,NM_033489,NM_033486,NM_033488,NM_024011,NM_033529;GI=CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A;FC=Synonymous_R123R,Synonymous_R123R,Silent,Synonymous_R100R,Synonymous_R134R,Synonymous_R89R,Synonymous_R134R,Synonymous_R124R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,34:109:99:778,0,1773:48:99:0.312 chr1 1647893 . C T 120.78 LowVariantFreq;SB BaseQRankSum=-0.124;DP=80;Dels=0.00;FS=19.530;HRun=3;HaplotypeScore=8.6500;MQ=49;MQ0=0;MQRankSum=-4.837;QD=1.51;ReadPosRankSum=-5.099;SB=-0.01;TI=NM_033493,NM_033492,NM_033487,NM_033489,NM_033486,NM_033488,NM_024011,NM_033529;GI=CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A;FC=Missense_R116K,Missense_R116K,Silent,Missense_R93K,Missense_R127K,Missense_R82K,Missense_R127K,Missense_R117K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,10:80:99:151,0,1920:49:99:0.125 chr1 1647928 rs1883424 A G 961.61 PASS BaseQRankSum=-0.500;DP=49;Dels=0.00;FS=13.590;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;MQRankSum=5.150;QD=19.62;ReadPosRankSum=1.128;SB=-468.14;TI=NM_033493,NM_033492,NM_033487,NM_033489,NM_033486,NM_033488,NM_024011,NM_033529;GI=CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,37:49:99:992,0,272:50:99:0.755 chr1 1653028 rs16825265 C T 1235.87 PASS DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=29.43;SB=-528.82;TI=NM_033493,NM_033492,NM_033487,NM_033489,NM_033486,NM_033488,NM_024011,NM_033529;GI=CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:93.30:1269,93,0:53:93:1.000 chr1 1957037 rs2229110 T C 1155.94 PASS BaseQRankSum=0.274;DP=121;Dels=0.00;FS=1.454;HRun=1;HaplotypeScore=11.0477;MQ=56;MQ0=0;MQRankSum=0.081;QD=9.55;ReadPosRankSum=-0.242;SB=-829.44;TI=NM_000815;GI=GABRD;FC=Synonymous_G110G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,54:121:99:1186,0,1734:56:99:0.446 chr1 2337277 rs11586985 C T 1086.35 PASS BaseQRankSum=-1.333;DP=87;Dels=0.00;FS=0.811;HRun=0;HaplotypeScore=1.8899;MQ=56;MQ0=0;MQRankSum=-0.209;QD=12.49;ReadPosRankSum=-1.648;SB=-726.30;TI=NM_153818,NM_002617;GI=PEX10,PEX10;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,47:87:99:1116,0,1045:56:99:0.540 chr1 2338015 rs34154371 T C 1504.78 PASS BaseQRankSum=-0.796;DP=122;Dels=0.00;FS=3.297;HRun=0;HaplotypeScore=8.5595;MQ=55;MQ0=0;MQRankSum=1.897;QD=12.33;ReadPosRankSum=-0.361;SB=-987.94;TI=NM_153818,NM_002617;GI=PEX10,PEX10;FC=Missense_T294A,Missense_T274A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,62:122:99:1535,0,1557:55:99:0.508 chr1 2340200 rs2494598 T C 2269.36 PASS BaseQRankSum=4.107;DP=230;Dels=0.00;FS=1.071;HRun=0;HaplotypeScore=18.8734;MQ=55;MQ0=0;MQRankSum=0.015;QD=9.87;ReadPosRankSum=-0.307;SB=-1234.66;TI=NM_153818,NM_002617;GI=PEX10,PEX10;FC=Synonymous_T97T,Synonymous_T97T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:135,94:230:99:2299,0,3401:55:99:0.410 chr1 2528133 rs2843401 T C 688.40 PASS DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=34.42;SB=-116.55;TI=NM_033467;GI=MMEL1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,20:20:54.18:721,54,0:60:54:1.000 chr1 2560882 rs4648658 G A 952.49 PASS DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=27.21;SB=-563.42;TI=NM_033467;GI=MMEL1;FC=Synonymous_A14A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:35:72.23:985,72,0:55:72:1.000 chr1 2560903 rs4648659 T G 819.35 PASS DP=29;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=28.25;SB=-481.66;TI=NM_033467;GI=MMEL1;FC=Synonymous_P7P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:63.20:852,63,0:56:63:1.000 chr1 3638674 rs1801174 C T 5304.81 PASS BaseQRankSum=2.359;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.7448;MQ=54;MQ0=0;MQRankSum=-0.239;QD=27.63;ReadPosRankSum=-0.653;SB=-3141.23;TI=NM_005427,NM_001126242,NM_001126241,NM_001126240;GI=TP73,TP73,TP73,TP73;FC=Synonymous_T173T,Synonymous_T124T,Synonymous_T124T,Synonymous_T124T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,188:192:99:5305,385,0:54:99:0.989 chr1 3644715 rs12046074 C T 1752.64 PASS BaseQRankSum=1.327;DP=145;Dels=0.00;FS=0.616;HRun=0;HaplotypeScore=8.2182;MQ=52;MQ0=0;MQRankSum=0.631;QD=12.09;ReadPosRankSum=0.564;SB=-1176.50;TI=NM_005427,NM_001126242,NM_001126241,NM_001126240;GI=TP73,TP73,TP73,TP73;FC=Synonymous_A336A,Synonymous_A287A,Synonymous_A287A,Synonymous_A287A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,72:145:99:1783,0,1692:52:99:0.497 chr1 3644754 rs12048341 T C 1704.83 PASS BaseQRankSum=0.811;DP=148;Dels=0.00;FS=2.083;HRun=0;HaplotypeScore=4.5278;MQ=52;MQ0=0;MQRankSum=1.471;QD=11.52;ReadPosRankSum=0.992;SB=-1047.07;TI=NM_005427,NM_001126242,NM_001126241,NM_001126240;GI=TP73,TP73,TP73,TP73;FC=Synonymous_H349H,Synonymous_H300H,Synonymous_H300H,Synonymous_H300H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,72:148:99:1735,0,1832:52:99:0.486 chr1 3649403 rs61735051 G A 2222.28 PASS BaseQRankSum=-0.702;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3520;MQ=57;MQ0=0;MQRankSum=2.133;QD=13.63;ReadPosRankSum=-0.319;SB=-1158.38;TI=NM_005427,NM_001126242,NM_001126241,NM_001126240;GI=TP73,TP73,TP73,TP73;FC=Synonymous_A557A,Silent,Silent,Synonymous_A508A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,87:163:99:2252,0,2022:57:99:0.537 chr1 3649562 rs9662633 G A 1730.25 PASS BaseQRankSum=1.929;DP=127;Dels=0.00;FS=12.010;HRun=0;HaplotypeScore=4.3262;MQ=55;MQ0=0;MQRankSum=0.114;QD=13.62;ReadPosRankSum=-0.588;SB=-626.20;TI=NM_005427,NM_001126242,NM_001126241,NM_001126240;GI=TP73,TP73,TP73,TP73;FC=Synonymous_A610A,Silent,Silent,Synonymous_A561A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,69:127:99:1760,0,1524:55:99:0.543 chr1 5935162 rs1287637 A T 126.11 LowDP BaseQRankSum=-0.696;DP=13;Dels=0.00;FS=4.150;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=1.670;QD=9.70;ReadPosRankSum=0.817;SB=-37.80;TI=NM_015102;GI=NPHP4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,5:13:99:156,0,271:56:99:0.385 chr1 5937168 rs3747992 G A 550.50 PASS BaseQRankSum=-1.061;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8317;MQ=57;MQ0=0;MQRankSum=0.825;QD=15.73;ReadPosRankSum=-1.263;SB=-164.37;TI=NM_015102;GI=NPHP4;FC=Synonymous_R934R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,21:35:99:580,0,378:57:99:0.600 chr1 6505753 . CAG C 1511.68 PASS BaseQRankSum=-0.173;DP=75;FS=0.890;HRun=0;HaplotypeScore=311.9530;MQ=44;MQ0=0;MQRankSum=0.650;QD=20.16;ReadPosRankSum=1.126;SB=-714.51;TI=NM_031475;GI=ESPN;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,35:75:99:1551,0,1733:44:99:0.467 chr1 6505824 . A C 161.29 SB BaseQRankSum=-1.648;DP=56;Dels=0.02;FS=51.971;HRun=5;HaplotypeScore=58.6348;MQ=38;MQ0=0;MQRankSum=-3.306;QD=2.88;ReadPosRankSum=0.345;SB=-0.01;TI=NM_031475;GI=ESPN;FC=Synonymous_P431P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,14:55:99:191,0,834:38:99:0.259 chr1 6505827 . A C 164.33 SB BaseQRankSum=-0.606;DP=56;Dels=0.04;FS=55.416;HRun=5;HaplotypeScore=69.3152;MQ=37;MQ0=0;MQRankSum=-2.688;QD=2.93;ReadPosRankSum=-0.202;SB=-0.01;TI=NM_031475;GI=ESPN;FC=Synonymous_P432P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,12:54:99:194,0,823:37:99:0.226 chr1 6505833 . A C 260.36 SB BaseQRankSum=0.142;DP=54;Dels=0.00;FS=56.410;HRun=5;HaplotypeScore=83.4527;MQ=34;MQ0=0;MQRankSum=-3.571;QD=4.82;ReadPosRankSum=-0.066;SB=-0.01;TI=NM_031475;GI=ESPN;FC=Synonymous_P434P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,16:54:99:290,0,764:34:99:0.296 chr1 6505837 . A C 88.40 SB BaseQRankSum=-1.866;DP=50;Dels=0.04;FS=38.065;HRun=3;HaplotypeScore=72.1666;MQ=34;MQ0=0;MQRankSum=-2.037;QD=1.77;ReadPosRankSum=-0.085;SB=-0.01;TI=NM_031475;GI=ESPN;FC=Missense_S436R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,12:48:99:118,0,856:34:88:0.255 chr1 6505838 . G C 103.91 SB BaseQRankSum=-1.084;DP=50;Dels=0.06;FS=41.201;HRun=1;HaplotypeScore=74.1158;MQ=34;MQ0=0;MQRankSum=-3.009;QD=2.08;ReadPosRankSum=0.569;SB=-0.01;TI=NM_031475;GI=ESPN;FC=Missense_S436T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,11:47:99:134,0,877:34:99:0.250 chr1 6505840 . T C 113.04 SB BaseQRankSum=-1.622;DP=51;Dels=0.06;FS=37.319;HRun=1;HaplotypeScore=73.1716;MQ=34;MQ0=0;MQRankSum=-2.037;QD=2.22;ReadPosRankSum=-0.671;SB=-0.01;TI=NM_031475;GI=ESPN;FC=Missense_F437L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,12:48:99:143,0,784:34:99:0.255 chr1 6505841 . T C 160.55 SB BaseQRankSum=-2.039;DP=51;Dels=0.06;FS=54.047;HRun=6;HaplotypeScore=78.7941;MQ=34;MQ0=0;MQRankSum=-1.338;QD=3.15;ReadPosRankSum=0.138;SB=-0.01;TI=NM_031475;GI=ESPN;FC=Missense_F437S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,12:48:99:191,0,804:34:99:0.261 chr1 6505848 . G C 111.04 SB BaseQRankSum=-3.028;DP=47;Dels=0.04;FS=58.670;HRun=6;HaplotypeScore=61.9873;MQ=33;MQ0=0;MQRankSum=-2.182;QD=2.36;ReadPosRankSum=-1.388;SB=-2.98;TI=NM_031475;GI=ESPN;FC=Synonymous_P439P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,13:45:99:141,0,785:33:99:0.302 chr1 6505851 . A C 141.28 SB BaseQRankSum=-1.012;DP=48;Dels=0.00;FS=65.862;HRun=5;HaplotypeScore=41.2132;MQ=34;MQ0=0;MQRankSum=-2.135;QD=2.94;ReadPosRankSum=0.378;SB=0.04;TI=NM_031475;GI=ESPN;FC=Synonymous_P440P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,12:48:99:171,0,835:34:99:0.255 chr1 6505857 . G C 107.77 SB BaseQRankSum=-3.225;DP=55;Dels=0.00;FS=65.082;HRun=5;HaplotypeScore=58.0569;MQ=35;MQ0=0;MQRankSum=-3.399;QD=1.96;ReadPosRankSum=-1.075;SB=-0.01;TI=NM_031475;GI=ESPN;FC=Synonymous_P442P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,12:55:99:138,0,1094:35:99:0.231 chr1 6505881 . A C 47.05 SB BaseQRankSum=-3.430;DP=64;Dels=0.02;FS=52.087;HRun=5;HaplotypeScore=60.2036;MQ=38;MQ0=0;MQRankSum=-2.091;QD=0.74;ReadPosRankSum=-4.323;SB=-0.01;TI=NM_031475;GI=ESPN;FC=Synonymous_P450P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,14:63:77.04:77,0,1419:38:47:0.222 chr1 6635231 rs10864628 A G 2381.91 PASS DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.70;SB=-1469.86;TI=NM_177540,NM_138697;GI=TAS1R1,TAS1R1;FC=Silent,Missense_K347E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2415,178,0:55:99:1.000 chr1 7723957 rs12128526 G A 2553.25 PASS BaseQRankSum=3.822;DP=218;Dels=0.00;FS=3.075;HRun=0;HaplotypeScore=9.9338;MQ=55;MQ0=0;MQRankSum=2.830;QD=11.71;ReadPosRankSum=0.845;SB=-1420.05;TI=NM_015215;GI=CAMTA1;FC=Synonymous_S450S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:115,103:218:99:2583,0,2685:55:99:0.472 chr1 7737799 rs3011926 A G 1453.34 PASS BaseQRankSum=-0.085;DP=96;Dels=0.00;FS=1.702;HRun=1;HaplotypeScore=1.9977;MQ=54;MQ0=0;MQRankSum=0.836;QD=15.14;ReadPosRankSum=-0.747;SB=-678.81;TI=NM_015215;GI=CAMTA1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,56:96:99:1483,0,988:54:99:0.583 chr1 7797503 rs41278952 C G 2762.53 PASS BaseQRankSum=4.231;DP=226;Dels=0.00;FS=3.787;HRun=0;HaplotypeScore=10.9066;MQ=55;MQ0=0;MQRankSum=2.303;QD=12.22;ReadPosRankSum=0.285;SB=-1759.04;TI=NM_015215;GI=CAMTA1;FC=Missense_N1177K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,109:226:99:2793,0,2863:55:99:0.482 chr1 7870048 rs228669 T C 2204.83 PASS DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.40;SB=-1035.50;TI=NM_016831;GI=PER3;FC=Synonymous_S445S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2238,166,0:55:99:1.000 chr1 7880683 rs10462020 T G 1743.70 PASS BaseQRankSum=-1.648;DP=153;Dels=0.00;FS=0.601;HRun=1;HaplotypeScore=0.8667;MQ=52;MQ0=0;MQRankSum=0.981;QD=11.40;ReadPosRankSum=0.134;SB=-1092.71;TI=NM_016831;GI=PER3;FC=Missense_V639G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,69:153:99:1774,0,1945:52:99:0.451 chr1 7887493 rs228696 T C 6739.41 PASS BaseQRankSum=1.651;DP=215;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.7782;MQ=57;MQ0=0;MQRankSum=1.619;QD=31.35;ReadPosRankSum=1.311;SB=-3659.86;TI=NM_016831;GI=PER3;FC=Missense_L827P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,213:215:99:6739,503,0:57:99:0.995 chr1 7887579 rs228697 C G 3753.44 PASS BaseQRankSum=2.867;DP=266;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=55;MQ0=0;MQRankSum=2.313;QD=14.11;ReadPosRankSum=-0.754;SB=-2209.16;TI=NM_016831;GI=PER3;FC=Missense_P856A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,145:266:99:3753,0,3018:55:99:0.545 chr1 7890010 rs11576985 A G 33.27 LowVariantFreq;SB BaseQRankSum=2.082;DP=98;Dels=0.00;FS=44.451;HRun=2;HaplotypeScore=11.6110;MQ=42;MQ0=0;MQRankSum=-2.260;QD=0.34;ReadPosRankSum=-3.316;SB=-0.01;TI=NM_016831;GI=PER3;FC=Synonymous_T992T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,10:98:63.26:63,0,2267:42:33:0.103 chr1 7890013 . A G 39.94 LowVariantFreq;SB BaseQRankSum=-0.286;DP=88;Dels=0.00;FS=53.050;HRun=2;HaplotypeScore=12.7295;MQ=42;MQ0=0;MQRankSum=-2.442;QD=0.45;ReadPosRankSum=-3.600;SB=-0.01;TI=NM_016831;GI=PER3;FC=Synonymous_G993G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,10:88:69.94:70,0,2144:42:40:0.115 chr1 7890016 rs12749159 G A 91.29 LowVariantFreq;SB BaseQRankSum=0.030;DP=90;Dels=0.00;FS=60.981;HRun=0;HaplotypeScore=14.5177;MQ=43;MQ0=0;MQRankSum=-1.623;QD=1.01;ReadPosRankSum=-3.824;SB=-0.01;TI=NM_016831;GI=PER3;FC=Synonymous_S994S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,12:90:99:121,0,1948:43:91:0.136 chr1 7890024 . T G 334.02 SB BaseQRankSum=0.676;DP=97;Dels=0.00;FS=61.643;HRun=1;HaplotypeScore=19.9096;MQ=44;MQ0=0;MQRankSum=-0.632;QD=3.44;ReadPosRankSum=-4.110;SB=-0.01;TI=NM_016831;GI=PER3;FC=Missense_M997R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,22:97:99:364,0,1965:44:99:0.229 chr1 7890026 . A G 390.53 SB BaseQRankSum=0.715;DP=98;Dels=0.00;FS=66.778;HRun=1;HaplotypeScore=20.8037;MQ=44;MQ0=0;MQRankSum=-0.483;QD=3.98;ReadPosRankSum=-3.920;SB=-6.27;TI=NM_016831;GI=PER3;FC=Missense_K998E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,24:98:99:421,0,1809:44:99:0.245 chr1 7890053 rs1776342 G A 799.08 PASS BaseQRankSum=-1.522;DP=99;Dels=0.00;FS=41.400;HRun=0;HaplotypeScore=16.9329;MQ=44;MQ0=0;MQRankSum=-1.608;QD=8.07;ReadPosRankSum=-1.312;SB=-122.12;TI=NM_016831;GI=PER3;FC=Missense_A1007T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,40:99:99:829,0,1530:44:99:0.408 chr1 7890055 rs11121034 T A 864.67 PASS BaseQRankSum=0.778;DP=103;Dels=0.00;FS=48.352;HRun=0;HaplotypeScore=17.7995;MQ=45;MQ0=0;MQRankSum=-2.201;QD=8.39;ReadPosRankSum=-1.915;SB=-116.10;TI=NM_016831;GI=PER3;FC=Synonymous_A1007A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,39:103:99:895,0,1552:45:99:0.386 chr1 7890064 rs12023156 A G 492.49 SB BaseQRankSum=0.087;DP=117;Dels=0.00;FS=52.770;HRun=2;HaplotypeScore=24.4331;MQ=44;MQ0=0;MQRankSum=-3.032;QD=4.21;ReadPosRankSum=-2.489;SB=-0.01;TI=NM_016831;GI=PER3;FC=Synonymous_T1010T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,31:117:99:522,0,2140:44:99:0.267 chr1 7890069 rs12750400 C T 145.47 LowVariantFreq;SB BaseQRankSum=-1.781;DP=117;Dels=0.00;FS=38.396;HRun=1;HaplotypeScore=35.3482;MQ=44;MQ0=0;MQRankSum=-2.209;QD=1.24;ReadPosRankSum=-3.082;SB=-0.01;TI=NM_016831;GI=PER3;FC=Missense_S1012L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,16:117:99:175,0,2522:44:99:0.137 chr1 7890078 . T G 126.54 LowVariantFreq;SB BaseQRankSum=-2.293;DP=120;Dels=0.00;FS=13.721;HRun=1;HaplotypeScore=33.6451;MQ=44;MQ0=0;MQRankSum=-2.602;QD=1.05;ReadPosRankSum=-5.198;SB=-0.01;TI=NM_016831;GI=PER3;FC=Missense_M1015R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,19:120:99:157,0,2390:44:99:0.158 chr1 7890079 . G C 14.26 LowVariantFreq;SB BaseQRankSum=-0.802;DP=116;Dels=0.00;FS=32.309;HRun=0;HaplotypeScore=33.6451;MQ=44;MQ0=0;MQRankSum=-3.113;QD=0.12;ReadPosRankSum=-3.949;SB=-0.01;TI=NM_016831;GI=PER3;FC=Missense_M1015I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,10:116:44.09:44,0,2757:44:14:0.086 chr1 7890084 . A C 12.93 LowVariantFreq;SB BaseQRankSum=-1.126;DP=117;Dels=0.00;FS=34.743;HRun=0;HaplotypeScore=27.0401;MQ=44;MQ0=0;MQRankSum=-2.769;QD=0.11;ReadPosRankSum=-4.766;SB=-0.01;TI=NM_016831;GI=PER3;FC=Missense_N1017T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,10:117:42.70:43,0,2763:44:13:0.086 chr1 7890117 rs2640909 T C 3701.10 PASS BaseQRankSum=0.839;DP=128;Dels=0.00;FS=4.664;HRun=0;HaplotypeScore=18.3856;MQ=46;MQ0=0;MQRankSum=-1.083;QD=28.91;ReadPosRankSum=0.244;SB=-1589.26;TI=NM_016831;GI=PER3;FC=Missense_M1028T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,127:128:99:3701,262,0:46:99:0.992 chr1 7897133 rs10462021 A G 1236.92 PASS BaseQRankSum=-0.752;DP=98;Dels=0.00;FS=1.673;HRun=0;HaplotypeScore=3.7603;MQ=57;MQ0=0;MQRankSum=-0.702;QD=12.62;ReadPosRankSum=0.422;SB=-908.83;TI=NM_016831;GI=PER3;FC=Missense_H1149R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,55:98:99:1267,0,1044:57:99:0.561 chr1 7897189 rs35072750 A G 806.87 PASS BaseQRankSum=1.790;DP=70;Dels=0.00;FS=2.356;HRun=0;HaplotypeScore=6.4678;MQ=57;MQ0=0;MQRankSum=0.312;QD=11.53;ReadPosRankSum=1.558;SB=-173.27;TI=NM_016831;GI=PER3;FC=Missense_T1168A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,28:70:99:837,0,992:57:99:0.406 chr1 7913430 rs228648 G A 1683.92 PASS BaseQRankSum=2.538;DP=152;Dels=0.00;FS=2.037;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=0.780;QD=11.08;ReadPosRankSum=-1.038;SB=-1322.99;TI=NM_021995;GI=UTS2;FC=Missense_T21M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,78:152:99:1714,0,1711:51:99:0.513 chr1 9009406 rs2274327 C T 2218.76 PASS BaseQRankSum=1.513;DP=204;Dels=0.00;FS=1.094;HRun=0;HaplotypeScore=9.8997;MQ=54;MQ0=0;MQRankSum=2.228;QD=10.88;ReadPosRankSum=1.133;SB=-1572.05;TI=NM_001215;GI=CA6;FC=Missense_T55M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,97:204:99:2249,0,2373:54:99:0.475 chr1 9009444 rs2274328 A C 2034.05 PASS BaseQRankSum=2.187;DP=196;Dels=0.00;FS=3.314;HRun=0;HaplotypeScore=9.0026;MQ=54;MQ0=0;MQRankSum=2.395;QD=10.38;ReadPosRankSum=0.593;SB=-1377.56;TI=NM_001215;GI=CA6;FC=Missense_M68L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,87:196:99:2064,0,2497:54:99:0.444 chr1 9017204 rs2274333 A G 286.26 PASS BaseQRankSum=-0.995;DP=30;Dels=0.00;FS=5.649;HRun=1;HaplotypeScore=0.9998;MQ=58;MQ0=0;MQRankSum=1.369;QD=9.54;ReadPosRankSum=0.373;SB=-154.32;TI=NM_001215;GI=CA6;FC=Missense_S90G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,15:30:99:316,0,354:58:99:0.500 chr1 9030964 rs3737665 C T 1175.30 PASS BaseQRankSum=1.311;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4428;MQ=50;MQ0=0;MQRankSum=-2.158;QD=9.56;ReadPosRankSum=2.143;SB=-829.02;TI=NM_001215;GI=CA6;FC=Synonymous_N256N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,57:123:99:1205,0,1697:50:99:0.463 chr1 9034421 rs3765964 G A 574.76 PASS BaseQRankSum=-1.399;DP=54;Dels=0.00;FS=2.320;HRun=0;HaplotypeScore=1.7608;MQ=53;MQ0=0;MQRankSum=0.383;QD=10.64;ReadPosRankSum=0.508;SB=-385.40;TI=NM_001215;GI=CA6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,25:54:99:605,0,716:53:99:0.472 chr1 9305179 . C T 3604.53 PASS BaseQRankSum=2.345;DP=298;Dels=0.00;FS=0.894;HRun=2;HaplotypeScore=10.1445;MQ=54;MQ0=0;MQRankSum=-0.202;QD=12.10;ReadPosRankSum=0.090;SB=-2224.51;TI=NM_004285;GI=H6PD;FC=Synonymous_F62F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:148,149:298:99:3605,0,3780:54:99:0.502 chr1 9307076 . G A 522.29 PASS BaseQRankSum=-0.936;DP=91;Dels=0.00;FS=3.101;HRun=0;HaplotypeScore=3.6207;MQ=54;MQ0=0;MQRankSum=-1.533;QD=5.74;ReadPosRankSum=-0.611;SB=-302.94;TI=NM_004285;GI=H6PD;FC=Missense_G227S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,26:91:99:552,0,1612:54:99:0.286 chr1 9307138 rs11121350 T C 797.69 PASS BaseQRankSum=1.316;DP=103;Dels=0.00;FS=1.687;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-1.934;QD=7.74;ReadPosRankSum=0.228;SB=-575.25;TI=NM_004285;GI=H6PD;FC=Synonymous_A247A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,39:103:99:828,0,1655:52:99:0.379 chr1 9324571 rs9434742 T C 911.20 PASS BaseQRankSum=2.123;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7256;MQ=58;MQ0=0;MQRankSum=1.211;QD=12.83;ReadPosRankSum=0.953;SB=-419.21;TI=NM_004285;GI=H6PD;FC=Synonymous_Y673Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,29:71:99:941,0,1402:58:99:0.408 chr1 9324670 rs9434743 A G 1354.87 PASS BaseQRankSum=0.609;DP=110;Dels=0.00;FS=5.133;HRun=0;HaplotypeScore=9.9585;MQ=58;MQ0=0;MQRankSum=0.711;QD=12.32;ReadPosRankSum=-0.351;SB=-414.86;TI=NM_004285;GI=H6PD;FC=Synonymous_S706S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,50:110:99:1385,0,1647:58:99:0.455 chr1 10318652 rs12402052 C G 1194.38 PASS BaseQRankSum=-0.498;DP=96;Dels=0.00;FS=1.680;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=1.371;QD=12.44;ReadPosRankSum=0.682;SB=-692.35;TI=NM_183416,NM_015074;GI=KIF1B,KIF1B;FC=Synonymous_A95A,Synonymous_A95A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,49:96:99:1224,0,1219:54:99:0.510 chr1 10355834 rs3753037 C T 768.27 PASS BaseQRankSum=-0.387;DP=74;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=2.177;QD=10.38;ReadPosRankSum=0.747;SB=-348.99;TI=NM_183416,NM_015074;GI=KIF1B,KIF1B;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,32:74:99:798,0,1034:57:99:0.432 chr1 10435324 rs11121552 C A 1454.37 PASS BaseQRankSum=0.206;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7108;MQ=56;MQ0=0;MQRankSum=2.682;QD=13.72;ReadPosRankSum=0.435;SB=-868.10;TI=NM_015074;GI=KIF1B;FC=Synonymous_T1721T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,58:106:99:1484,0,1208:56:99:0.547 chr1 10460485 rs1049887 T C 2289.18 PASS BaseQRankSum=1.222;DP=220;Dels=0.00;FS=4.815;HRun=0;HaplotypeScore=7.4882;MQ=53;MQ0=0;MQRankSum=-1.583;QD=10.41;ReadPosRankSum=0.525;SB=-1378.74;TI=NM_002631;GI=PGD;FC=Synonymous_D40D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,96:220:99:2319,0,3129:53:99:0.438 chr1 10473196 rs2229687 C T 1736.57 PASS BaseQRankSum=0.620;DP=151;Dels=0.00;FS=1.331;HRun=0;HaplotypeScore=7.2949;MQ=55;MQ0=0;MQRankSum=1.230;QD=11.50;ReadPosRankSum=0.861;SB=-1125.58;TI=NM_002631;GI=PGD;FC=Synonymous_D244D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,77:151:99:1767,0,1745:55:99:0.513 chr1 10479678 rs1889309 G A 1647.32 PASS BaseQRankSum=0.339;DP=122;Dels=0.00;FS=1.437;HRun=0;HaplotypeScore=1.6643;MQ=55;MQ0=0;MQRankSum=3.900;QD=13.50;ReadPosRankSum=1.185;SB=-956.39;TI=NM_002631;GI=PGD;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,65:122:99:1677,0,1277:55:99:0.533 chr1 10596341 rs12375 C T 980.34 PASS BaseQRankSum=1.004;DP=77;Dels=0.00;FS=2.240;HRun=2;HaplotypeScore=1.8665;MQ=58;MQ0=0;MQRankSum=0.138;QD=12.73;ReadPosRankSum=1.676;SB=-386.67;TI=NM_004565;GI=PEX14;FC=Synonymous_F52F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,38:77:99:1010,0,1107:58:99:0.494 chr1 10689924 rs2128414 C T 1051.06 PASS BaseQRankSum=1.347;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4525;MQ=55;MQ0=0;MQRankSum=1.302;QD=14.20;ReadPosRankSum=-1.435;SB=-329.12;TI=NM_004565;GI=PEX14;FC=Synonymous_D338D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,40:74:99:1081,0,868:55:99:0.548 chr1 11087524 rs1782455 G A 7743.01 PASS DP=253;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1501;MQ=55;MQ0=0;QD=30.60;SB=-4843.20;TI=NM_006610;GI=MASP2;FC=Synonymous_S493S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,253:253:99:7743,566,0:55:99:1.000 chr1 11090897 rs2273346 A G 2984.65 PASS BaseQRankSum=1.517;DP=202;Dels=0.00;FS=5.961;HRun=0;HaplotypeScore=9.6591;MQ=53;MQ0=0;MQRankSum=0.393;QD=14.78;ReadPosRankSum=-1.275;SB=-1915.98;TI=NM_006610;GI=MASP2;FC=Missense_V377A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,115:202:99:3015,0,2093:53:99:0.575 chr1 11090916 rs12711521 C A 2191.07 PASS BaseQRankSum=2.145;DP=219;Dels=0.00;FS=2.349;HRun=1;HaplotypeScore=4.7512;MQ=53;MQ0=0;MQRankSum=2.285;QD=10.00;ReadPosRankSum=0.445;SB=-1319.65;TI=NM_006610;GI=MASP2;FC=Missense_D371Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,94:219:99:2221,0,3101:53:99:0.429 chr1 11102939 rs61735598 C T 1634.34 PASS BaseQRankSum=0.202;DP=115;Dels=0.00;FS=2.617;HRun=1;HaplotypeScore=9.9315;MQ=54;MQ0=0;MQRankSum=-0.003;QD=14.21;ReadPosRankSum=-1.607;SB=-679.52;TI=NM_006610;GI=MASP2;FC=Synonymous_T294T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,68:115:99:1664,0,1085:54:99:0.591 chr1 11106617 . G A 3189.56 PASS BaseQRankSum=-0.010;DP=273;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0387;MQ=56;MQ0=0;MQRankSum=1.627;QD=11.68;ReadPosRankSum=2.054;SB=-1722.06;TI=NM_006610,NM_139208;GI=MASP2,MASP2;FC=Synonymous_A136A,Synonymous_A136A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:137,136:273:99:3220,0,3209:56:99:0.498 chr1 11854457 rs4846051 G A 3355.61 PASS DP=119;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=28.20;SB=-2108.28;TI=NM_005957;GI=MTHFR;FC=Synonymous_F435F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,119:119:99:3356,241,0:53:99:1.000 chr1 11854476 rs1801131 T G 885.76 PASS BaseQRankSum=0.745;DP=115;Dels=0.00;FS=1.635;HRun=0;HaplotypeScore=3.7876;MQ=53;MQ0=0;MQRankSum=3.619;QD=7.70;ReadPosRankSum=1.117;SB=-464.45;TI=NM_005957;GI=MTHFR;FC=Missense_E429A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,37:115:99:916,0,1846:53:99:0.322 chr1 11854896 rs2066462 G A 1419.79 PASS BaseQRankSum=0.530;DP=112;Dels=0.00;FS=5.916;HRun=0;HaplotypeScore=5.8508;MQ=53;MQ0=0;MQRankSum=-1.183;QD=12.68;ReadPosRankSum=-2.244;SB=-841.45;TI=NM_005957;GI=MTHFR;FC=Synonymous_S352S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,59:112:99:1450,0,1284:53:99:0.527 chr1 11863057 rs2066470 G A 1730.83 PASS BaseQRankSum=1.318;DP=166;Dels=0.00;FS=1.248;HRun=0;HaplotypeScore=10.6220;MQ=56;MQ0=0;MQRankSum=1.141;QD=10.43;ReadPosRankSum=-0.063;SB=-1109.09;TI=NM_005957;GI=MTHFR;FC=Synonymous_P39P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,78:166:99:1761,0,2040:56:99:0.470 chr1 12009955 rs7529452 C T 891.25 PASS BaseQRankSum=-1.333;DP=71;Dels=0.00;FS=3.329;HRun=2;HaplotypeScore=7.1527;MQ=54;MQ0=0;MQRankSum=0.906;QD=12.55;ReadPosRankSum=-0.385;SB=-628.94;TI=NM_000302;GI=PLOD1;FC=Synonymous_F98F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,44:71:99:921,0,637:54:99:0.620 chr1 12009956 rs7551175 G A 594.37 PASS BaseQRankSum=0.811;DP=71;Dels=0.00;FS=4.772;HRun=0;HaplotypeScore=5.3645;MQ=54;MQ0=0;MQRankSum=-0.551;QD=8.37;ReadPosRankSum=0.456;SB=-367.06;TI=NM_000302;GI=PLOD1;FC=Missense_A99T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,27:71:99:624,0,961:54:99:0.380 chr1 12024235 rs1130529 C T 4790.61 PASS DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=52;MQ0=0;QD=25.21;SB=-3566.44;TI=NM_000302;GI=PLOD1;FC=Synonymous_N402N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,190:190:99:4791,343,0:52:99:1.000 chr1 12027100 . G A 866.44 PASS BaseQRankSum=2.577;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4404;MQ=51;MQ0=0;MQRankSum=2.925;QD=8.84;ReadPosRankSum=1.067;SB=-615.63;TI=NM_000302;GI=PLOD1;FC=Synonymous_L569L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,39:98:99:896,0,1235:51:99:0.398 chr1 12082334 rs11553925 A T 2694.17 PASS BaseQRankSum=3.388;DP=226;Dels=0.00;FS=4.604;HRun=1;HaplotypeScore=12.0922;MQ=56;MQ0=0;MQRankSum=1.999;QD=11.92;ReadPosRankSum=-1.040;SB=-1590.40;TI=NM_021933;GI=MIIP;FC=Missense_K99N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,105:226:99:2724,0,2849:56:99:0.465 chr1 12082461 rs11588712 C T 2143.42 PASS BaseQRankSum=2.427;DP=213;Dels=0.00;FS=3.208;HRun=0;HaplotypeScore=11.8944;MQ=54;MQ0=0;MQRankSum=1.813;QD=10.06;ReadPosRankSum=0.524;SB=-1068.67;TI=NM_021933;GI=MIIP;FC=Missense_P142S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,89:213:99:2173,0,3014:54:99:0.418 chr1 12082881 rs11588779 C T 864.97 PASS BaseQRankSum=1.217;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.984;QD=9.83;ReadPosRankSum=0.990;SB=-549.21;TI=NM_021933;GI=MIIP;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,38:88:99:895,0,1229:53:99:0.432 chr1 12082926 rs2295283 A G 4176.96 PASS BaseQRankSum=1.442;DP=167;Dels=0.00;FS=3.037;HRun=0;HaplotypeScore=5.7784;MQ=49;MQ0=0;MQRankSum=-0.529;QD=25.01;ReadPosRankSum=1.649;SB=-3137.05;TI=NM_021933;GI=MIIP;FC=Missense_K167E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,166:167:99:4177,263,0:49:99:0.994 chr1 12248942 rs945439 A G 1162.34 PASS BaseQRankSum=-0.671;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4035;MQ=58;MQ0=0;MQRankSum=0.798;QD=10.29;ReadPosRankSum=0.389;SB=-567.38;TI=NM_001066;GI=TNFRSF1B;FC=Synonymous_K56K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,52:113:99:1192,0,1622:58:99:0.460 chr1 12252955 rs1061622 T G 2060.97 PASS BaseQRankSum=2.043;DP=200;Dels=0.00;FS=5.009;HRun=2;HaplotypeScore=6.4426;MQ=54;MQ0=0;MQRankSum=0.875;QD=10.30;ReadPosRankSum=1.912;SB=-1169.67;TI=NM_001066;GI=TNFRSF1B;FC=Missense_M196R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,83:200:99:2091,0,2910:54:99:0.415 chr1 14143003 rs1046331 A G 1520.21 PASS BaseQRankSum=0.145;DP=146;Dels=0.00;FS=0.630;HRun=1;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=1.449;QD=10.41;ReadPosRankSum=3.164;SB=-1084.37;TI=NM_001135610,NM_012231;GI=PRDM2,PRDM2;FC=Missense_Q198R,Synonymous_P1706P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,75:146:99:1550,0,1619:51:99:0.514 chr1 15832543 rs1052576 T C 3097.48 PASS BaseQRankSum=0.419;DP=124;Dels=0.00;FS=3.197;HRun=1;HaplotypeScore=4.6493;MQ=53;MQ0=0;MQRankSum=0.335;QD=24.98;ReadPosRankSum=-0.056;SB=-2220.32;TI=NM_001229,NM_032996;GI=CASP9,CASP9;FC=Missense_Q221R,Missense_Q138R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,123:124:99:3130,188,0:53:99:0.992 chr1 15844615 rs1820204 A G 2917.93 PASS DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.72;SB=-998.30;TI=NM_001229,NM_032996;GI=CASP9,CASP9;FC=Synonymous_F136F,Synonymous_F53F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:2951,220,0:57:99:1.000 chr1 15850553 . C G 80.89 LowDP BaseQRankSum=-1.586;DP=16;Dels=0.00;FS=10.792;HRun=5;HaplotypeScore=12.5416;MQ=32;MQ0=0;MQRankSum=0.227;QD=5.06;ReadPosRankSum=-2.832;SB=-57.05;TI=NM_001229,NM_032996;GI=CASP9,CASP9;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,5:16:99:111,0,320:32:81:0.313 chr1 15850553 rs4645984 C CGGGGGCG 1271.76 LowDP DP=16;FS=0.000;HRun=0;HaplotypeScore=77.4362;MQ=32;MQ0=0;QD=79.48;SB=-85.88;TI=NM_001229,NM_032996;GI=CASP9,CASP9;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:6,10:16:48.14:1314,48,0:32:48:0.625 chr1 15850603 rs4645983 G A 569.65 PASS BaseQRankSum=0.897;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2145;MQ=50;MQ0=0;MQRankSum=-0.330;QD=10.95;ReadPosRankSum=-0.604;SB=-316.76;TI=NM_001229,NM_032996;GI=CASP9,CASP9;FC=Synonymous_S31S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,25:52:99:600,0,692:50:99:0.481 chr1 15850613 rs1052571 G A 1602.44 PASS DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2685;MQ=50;MQ0=0;QD=28.62;SB=-887.89;TI=NM_001229,NM_032996;GI=CASP9,CASP9;FC=Missense_A28V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:1635,123,0:50:99:1.000 chr1 16096934 rs10927851 C T 3028.26 PASS BaseQRankSum=0.547;DP=237;Dels=0.00;FS=1.066;HRun=1;HaplotypeScore=14.2351;MQ=55;MQ0=0;MQRankSum=-0.206;QD=12.78;ReadPosRankSum=1.007;SB=-1445.15;TI=NM_017556,NM_001024215,NM_001024216;GI=FBLIM1,FBLIM1,FBLIM1;FC=Missense_S191F,Missense_S191F,Missense_S94F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,125:237:99:3058,0,2643:55:99:0.527 chr1 16344466 rs3738640 C T 3308.20 PASS BaseQRankSum=1.662;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7209;MQ=58;MQ0=0;MQRankSum=1.102;QD=33.42;ReadPosRankSum=1.487;SB=-860.89;TI=NM_014424;GI=HSPB7;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,98:99:99:3308,247,0:58:99:0.990 chr1 16354590 rs12126269 A T 2900.24 PASS DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4640;MQ=49;MQ0=0;QD=27.36;SB=-1704.96;TI=NM_004070,NM_001042704;GI=CLCNKA,CLCNKA;FC=Missense_Y315F,Missense_Y315F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2933,211,0:49:99:1.000 chr1 16358932 rs10803407 T C 4494.38 PASS BaseQRankSum=0.855;DP=159;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.2734;MQ=52;MQ0=0;MQRankSum=-0.044;QD=28.27;ReadPosRankSum=-0.088;SB=-2641.54;TI=NM_004070,NM_001042704;GI=CLCNKA,CLCNKA;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,157:159:99:4494,295,0:52:99:0.994 chr1 16373124 rs5257 A G 4229.67 PASS DP=150;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8585;MQ=52;MQ0=0;QD=28.20;SB=-2566.89;TI=NM_000085;GI=CLCNKB;FC=Synonymous_S108S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:4230,310,0:52:99:1.000 chr1 16374533 rs2014562 G C 1523.79 PASS DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5109;MQ=56;MQ0=0;QD=30.48;SB=-497.59;TI=NM_000085;GI=CLCNKB;FC=Synonymous_G164G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:50:99:1557,114,0:56:99:1.000 chr1 16374994 rs1889788;rs34666902 C T 959.03 PASS DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=35;MQ0=16;QD=19.57;SB=-405.78;TI=NM_000085;GI=CLCNKB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:10,39:49:75.24:992,75,0:35:75:0.796 chr1 16375063 rs1889789;rs45612832 C G 674.34 PASS DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=42;MQ0=5;QD=25.94;SB=-146.19;TI=NM_000085;GI=CLCNKB;FC=Missense_A214G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,22:26:54.17:707,54,0:42:54:0.846 chr1 16375064 rs1889790;rs45575235 A C 676.12 PASS DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=43;MQ0=5;QD=28.17;SB=-73.45;TI=NM_000085;GI=CLCNKB;FC=Synonymous_A214A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,20:24:54.17:709,54,0:43:54:0.833 chr1 16376191 rs7367494;rs34188929 C T 228.61 LowGQ;LowDP DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=21;MQ0=7;QD=12.03;SB=-94.19;TI=NM_000085,NM_001165945;GI=CLCNKB,CLCNKB;FC=Missense_A287V,Missense_A118V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,15:19:24.04:262,24,0:21:24:0.789 chr1 16376319 rs7368151 T C 1464.27 PASS DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45;MQ0=0;QD=26.62;SB=-850.29;TI=NM_000085,NM_001165945;GI=CLCNKB,CLCNKB;FC=Synonymous_C292C,Synonymous_C123C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1497,114,0:45:99:1.000 chr1 16380196 rs5253 T C 1224.84 PASS BaseQRankSum=0.778;DP=114;Dels=0.00;FS=0.697;HRun=0;HaplotypeScore=2.7871;MQ=49;MQ0=1;MQRankSum=0.974;QD=10.74;ReadPosRankSum=2.512;SB=-748.11;TI=NM_000085,NM_001165945;GI=CLCNKB,CLCNKB;FC=Missense_M562T,Missense_M393T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,51:114:99:1255,0,1512:49:99:0.447 chr1 16380243 rs2275166 A G 1131.49 PASS BaseQRankSum=-1.908;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4152;MQ=51;MQ0=1;MQRankSum=-1.233;QD=12.86;ReadPosRankSum=-0.465;SB=-753.81;TI=NM_000085,NM_001165945;GI=CLCNKB,CLCNKB;FC=Missense_K578E,Missense_K409E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,49:88:99:1161,0,904:51:99:0.557 chr1 16380252 rs2275167;rs45512797 C T 1016.16 PASS BaseQRankSum=-1.326;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=51;MQ0=0;MQRankSum=-0.730;QD=11.82;ReadPosRankSum=-0.091;SB=-625.31;TI=NM_000085,NM_001165945;GI=CLCNKB,CLCNKB;FC=Synonymous_L581L,Synonymous_L412L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,44:86:99:1046,0,948:51:99:0.512 chr1 16451767 rs3754334 G A 1926.13 PASS BaseQRankSum=-0.175;DP=179;Dels=0.00;FS=1.174;HRun=1;HaplotypeScore=3.5215;MQ=51;MQ0=0;MQRankSum=-0.939;QD=10.76;ReadPosRankSum=-0.042;SB=-1406.60;TI=NM_004431;GI=EPHA2;FC=Synonymous_I958I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,91:179:99:1956,0,2055:51:99:0.508 chr1 16459745 rs10907223 G A 860.20 PASS BaseQRankSum=-0.667;DP=107;Dels=0.00;FS=1.656;HRun=1;HaplotypeScore=3.5215;MQ=55;MQ0=0;MQRankSum=0.947;QD=8.04;ReadPosRankSum=1.451;SB=-566.15;TI=NM_004431;GI=EPHA2;FC=Synonymous_L661L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,42:107:99:890,0,1767:55:99:0.393 chr1 16475123 rs6678616 C T 200.35 LowDP BaseQRankSum=1.902;DP=18;Dels=0.00;FS=2.251;HRun=0;HaplotypeScore=0.9998;MQ=60;MQ0=0;MQRankSum=0.543;QD=11.13;ReadPosRankSum=1.540;SB=-25.60;TI=NM_004431;GI=EPHA2;FC=Synonymous_L191L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,7:18:99:230,0,379:60:99:0.389 chr1 16475126 rs6678618 C T 219.71 LowDP BaseQRankSum=-0.867;DP=19;Dels=0.00;FS=2.199;HRun=0;HaplotypeScore=1.8939;MQ=60;MQ0=0;MQRankSum=-1.940;QD=11.56;ReadPosRankSum=0.950;SB=-28.61;TI=NM_004431;GI=EPHA2;FC=Synonymous_A190A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,8:19:99:250,0,373:60:99:0.421 chr1 16731510 rs525409 C G 3938.60 PASS DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=50;MQ0=0;QD=26.26;SB=-2655.85;TI=NM_198546;GI=SPATA21;FC=Missense_V255L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:3939,280,0:50:99:1.000 chr1 16736546 rs10907226 C T 993.99 PASS BaseQRankSum=0.045;DP=67;Dels=0.00;FS=3.632;HRun=0;HaplotypeScore=0.8667;MQ=55;MQ0=0;MQRankSum=1.745;QD=14.84;ReadPosRankSum=0.479;SB=-428.63;TI=NM_198546;GI=SPATA21;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,40:67:99:1024,0,611:55:99:0.597 chr1 16891333 rs3872309 C T 1465.86 LowVariantFreq BaseQRankSum=4.539;DP=474;Dels=0.00;FS=3.900;HRun=2;HaplotypeScore=29.7498;MQ=51;MQ0=0;MQRankSum=-0.123;QD=3.09;ReadPosRankSum=0.224;SB=-906.00;TI=NM_017940;GI=NBPF1;FC=Synonymous_K1050K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:378,94:474:99:1496,0,9362:51:99:0.199 chr1 16893721 . A C 7.41 LowGQX;LowVariantFreq;SB BaseQRankSum=0.930;DP=119;Dels=0.00;FS=1.324;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=1.543;QD=0.06;ReadPosRankSum=1.312;SB=-0.01;TI=NM_017940;GI=NBPF1;FC=Missense_F931C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,9:119:36.53:37,0,2632:54:7:0.076 chr1 16893854 . A C 10.31 LowVariantFreq;SB BaseQRankSum=2.437;DP=46;Dels=0.00;FS=2.044;HRun=1;HaplotypeScore=0.0000;MQ=46;MQ0=0;MQRankSum=-1.228;QD=0.22;ReadPosRankSum=0.019;SB=-0.01;TI=NM_017940;GI=NBPF1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,4:46:39.88:40,0,939:46:10:0.087 chr1 16894493 rs3932639 G C 56.21 SB;LowDP BaseQRankSum=1.157;DP=15;Dels=0.00;FS=6.264;HRun=0;HaplotypeScore=1.8808;MQ=24;MQ0=2;MQRankSum=0.386;QD=3.75;ReadPosRankSum=1.466;SB=-0.01;TI=NM_017940;GI=NBPF1;FC=Missense_Q883E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,4:15:86.21:86,0,179:24:56:0.267 chr1 16895586 rs4087044;rs78194517 T C 28.05 LowVariantFreq;SB BaseQRankSum=0.761;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=33;MQ0=0;MQRankSum=-1.203;QD=0.58;ReadPosRankSum=-1.618;SB=-0.01;TI=NM_017940;GI=NBPF1;FC=Missense_M866V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,8:48:58.03:58,0,705:33:28:0.167 chr1 16895634 rs11581926;rs61771025;rs75027498 T G 389.93 PASS BaseQRankSum=0.929;DP=69;Dels=0.00;FS=4.091;HRun=1;HaplotypeScore=0.8941;MQ=32;MQ0=3;MQRankSum=-6.096;QD=5.65;ReadPosRankSum=1.844;SB=-118.74;TI=NM_017940;GI=NBPF1;FC=Missense_K850Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,43:69:99:420,0,461:32:99:0.623 chr1 16901668 rs3901679 T C 14.77 LowVariantFreq BaseQRankSum=-0.819;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=32;MQ0=5;MQRankSum=0.945;QD=0.59;ReadPosRankSum=0.945;SB=-10.00;TI=NM_017940;GI=NBPF1;FC=Missense_K726E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,3:25:44.62:45,0,314:32:15:0.120 chr1 16901714 rs4661824;rs4950573;rs61772335 G A 99.98 PASS BaseQRankSum=1.247;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7396;MQ=31;MQ0=6;MQRankSum=-1.139;QD=4.54;ReadPosRankSum=-1.139;SB=-45.29;TI=NM_017940;GI=NBPF1;FC=Synonymous_N710N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,8:22:99:130,0,216:31:99:0.364 chr1 16902894 rs28453011;rs61772339;rs79062459 A G 247.61 LowGQ BaseQRankSum=-1.853;DP=31;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8822;MQ=27;MQ0=6;MQRankSum=-2.354;QD=7.99;ReadPosRankSum=0.952;SB=-78.59;TI=NM_017940;GI=NBPF1;FC=Missense_C663R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,29:31:17.70:278,0,18:27:18:0.935 chr1 16902943 rs3896429;rs74551879;rs76292153 T C 3.17 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=0.869;DP=18;Dels=0.00;FS=4.771;HRun=1;HaplotypeScore=0.0000;MQ=16;MQ0=6;MQRankSum=1.448;QD=0.18;ReadPosRankSum=0.869;SB=-0.01;TI=NM_017940;GI=NBPF1;FC=Synonymous_R646R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,2:18:30.31:30,0,41:16:3:0.111 chr1 16903912 rs61772344;rs76686193 T A 288.37 SB BaseQRankSum=-0.189;DP=35;Dels=0.00;FS=13.570;HRun=0;HaplotypeScore=0.8321;MQ=25;MQ0=3;MQRankSum=-1.435;QD=8.24;ReadPosRankSum=-0.340;SB=-0.01;TI=NM_017940;GI=NBPF1;FC=Missense_N602Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,20:35:99:318,0,264:25:99:0.571 chr1 16905788 rs4127114 A G 15.21 LowVariantFreq;SB BaseQRankSum=-0.720;DP=35;Dels=0.00;FS=3.979;HRun=4;HaplotypeScore=0.9916;MQ=11;MQ0=29;MQRankSum=0.000;QD=0.43;ReadPosRankSum=0.720;SB=0.00;TI=NM_017940;GI=NBPF1;FC=Synonymous_H567H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,2:35:45.08:45,0,85:11:15:0.059 chr1 16905789 rs4127115 T C 15.21 LowVariantFreq;SB BaseQRankSum=-1.380;DP=35;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=0.9916;MQ=11;MQ0=29;MQRankSum=0.000;QD=0.43;ReadPosRankSum=0.720;SB=0.00;TI=NM_017940;GI=NBPF1;FC=Missense_H567R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,2:35:45.08:45,0,85:11:15:0.057 chr1 16905800 rs10907245 G A 15.21 LowVariantFreq;SB BaseQRankSum=0.358;DP=34;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=0.0000;MQ=11;MQ0=29;MQRankSum=-0.358;QD=0.45;ReadPosRankSum=0.358;SB=0.00;TI=NM_017940;GI=NBPF1;FC=Synonymous_N563N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,2:34:45.08:45,0,85:11:15:0.059 chr1 16905803 rs10796417 G C 15.21 LowVariantFreq;SB BaseQRankSum=1.231;DP=34;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=0.0000;MQ=11;MQ0=29;MQRankSum=0.358;QD=0.45;ReadPosRankSum=0.358;SB=0.00;TI=NM_017940;GI=NBPF1;FC=Missense_I562M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,2:34:45.08:45,0,85:11:15:0.059 chr1 16907328 rs4661383;rs78540200 G T 2251.60 PASS BaseQRankSum=1.028;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=43;MQ0=6;MQRankSum=-1.151;QD=14.72;ReadPosRankSum=2.247;SB=-1293.53;TI=NM_017940;GI=NBPF1;FC=Synonymous_T501T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,98:153:99:2282,0,1012:43:99:0.641 chr1 16909052 rs3897177 C T 149.34 LowGQX;LowGQ BaseQRankSum=0.742;DP=27;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=15;MQ0=20;MQRankSum=0.742;QD=5.53;ReadPosRankSum=-0.742;SB=-97.99;TI=NM_017940;GI=NBPF1;FC=Synonymous_Q431Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,22:27:8.63:179,0,9:15:9:0.815 chr1 16909100 rs4996327 G C 23.99 LowVariantFreq;SB BaseQRankSum=1.026;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=9;MQ0=34;MQRankSum=0.000;QD=0.63;ReadPosRankSum=1.026;SB=0.00;TI=NM_017940;GI=NBPF1;FC=Synonymous_L415L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,5:38:48.09:54,0,48:9:24:0.132 chr1 16909129 rs4996328 T C 55.75 SB BaseQRankSum=0.550;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=11;MQ0=45;MQRankSum=-0.550;QD=1.07;ReadPosRankSum=0.550;SB=-0.01;TI=NM_017940;GI=NBPF1;FC=Missense_K406E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,18:52:79.87:86,0,80:11:56:0.346 chr1 16912063 . T A 10.76 LowVariantFreq;LowGQ;SB BaseQRankSum=1.380;DP=30;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=4.4704;MQ=9;MQ0=24;MQRankSum=0.720;QD=0.36;ReadPosRankSum=-0.720;SB=-1.25;TI=NM_017940;GI=NBPF1;FC=Missense_K303N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,2:30:24.43:40,0,24:9:11:0.067 chr1 16912133 . G A 10.79 LowVariantFreq;LowGQ;SB BaseQRankSum=1.026;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=8;MQ0=20;MQRankSum=0.000;QD=0.45;ReadPosRankSum=1.026;SB=-0.01;TI=NM_017940;GI=NBPF1;FC=Missense_S280F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,2:24:18.67:40,0,19:8:11:0.083 chr1 16914252 rs1020241 C T 122.41 PASS BaseQRankSum=-1.316;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=50;MQ0=2;MQRankSum=-1.652;QD=4.08;ReadPosRankSum=1.148;SB=-61.69;TI=NM_017940;GI=NBPF1;FC=Synonymous_E178E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,6:30:99:152,0,436:50:99:0.200 chr1 16918424 rs9730077 G C 46.53 LowVariantFreq BaseQRankSum=1.280;DP=34;Dels=0.00;FS=2.127;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=1;MQRankSum=-0.226;QD=1.37;ReadPosRankSum=-0.879;SB=-18.20;TI=NM_017940;GI=NBPF1;FC=Missense_N31K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,6:34:76.52:77,0,766:52:47:0.176 chr1 16918498 rs11583018 G A 6.71 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.764;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7600;MQ=56;MQ0=1;MQRankSum=1.953;QD=0.42;ReadPosRankSum=-0.425;SB=-0.01;TI=NM_017940;GI=NBPF1;FC=Missense_P7S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,2:16:35.66:36,0,440:56:7:0.125 chr1 16918502 rs3925698 A G 139.33 LowDP BaseQRankSum=-1.200;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8938;MQ=55;MQ0=1;MQRankSum=-0.377;QD=9.95;ReadPosRankSum=0.101;SB=-35.26;TI=NM_017940;GI=NBPF1;FC=Synonymous_A5A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,8:14:99:169,0,209:55:99:0.571 chr1 17313454 rs7531163 G A 1685.78 PASS BaseQRankSum=-1.247;DP=112;Dels=0.00;FS=3.677;HRun=0;HaplotypeScore=9.6704;MQ=52;MQ0=0;MQRankSum=-1.518;QD=15.05;ReadPosRankSum=-0.796;SB=-966.18;TI=NM_001141973,NM_001141974,NM_022089;GI=ATP13A2,ATP13A2,ATP13A2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,70:112:99:1716,0,1018:52:99:0.625 chr1 17314702 rs3738815 C T 2151.22 PASS BaseQRankSum=3.835;DP=190;Dels=0.00;FS=4.364;HRun=0;HaplotypeScore=2.9783;MQ=53;MQ0=0;MQRankSum=1.221;QD=11.32;ReadPosRankSum=4.110;SB=-968.35;TI=NM_001141973,NM_001141974,NM_022089;GI=ATP13A2,ATP13A2,ATP13A2;FC=Synonymous_S925S,Synonymous_S886S,Synonymous_S930S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,88:190:99:2181,0,2449:53:99:0.463 chr1 17326737 . T C 3.51 LowGQX;LowVariantFreq;SB BaseQRankSum=-5.723;DP=113;Dels=0.00;FS=43.503;HRun=2;HaplotypeScore=55.5834;MQ=46;MQ0=0;MQRankSum=-4.219;QD=0.03;ReadPosRankSum=-3.405;SB=-0.01;TI=NM_001141973,NM_001141974,NM_022089;GI=ATP13A2,ATP13A2,ATP13A2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,19:113:30.94:31,0,2775:46:4:0.168 chr1 17326739 . A C 44.62 LowVariantFreq;SB BaseQRankSum=-5.324;DP=123;Dels=0.00;FS=38.796;HRun=2;HaplotypeScore=58.1566;MQ=46;MQ0=0;MQRankSum=-5.182;QD=0.36;ReadPosRankSum=-3.018;SB=-0.01;TI=NM_001141973,NM_001141974,NM_022089;GI=ATP13A2,ATP13A2,ATP13A2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,21:123:74.62:75,0,2967:46:45:0.172 chr1 17326742 . T C 135.11 LowVariantFreq;SB BaseQRankSum=-3.974;DP=123;Dels=0.00;FS=74.114;HRun=5;HaplotypeScore=49.9702;MQ=46;MQ0=0;MQRankSum=-5.384;QD=1.10;ReadPosRankSum=-2.948;SB=-0.01;TI=NM_001141973,NM_001141974,NM_022089;GI=ATP13A2,ATP13A2,ATP13A2;FC=Synonymous_G297G,Synonymous_G297G,Synonymous_G302G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,20:123:99:165,0,2804:46:99:0.165 chr1 17380497 rs2746462 G T 1003.54 PASS BaseQRankSum=1.354;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6818;MQ=59;MQ0=0;MQRankSum=-0.007;QD=15.68;ReadPosRankSum=-0.862;SB=-702.80;TI=NM_003000;GI=SDHB;FC=Synonymous_A6A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,44:64:99:1034,0,412:59:99:0.688 chr1 19071353 . G A 2473.26 PASS BaseQRankSum=0.578;DP=193;Dels=0.00;FS=0.540;HRun=0;HaplotypeScore=6.5201;MQ=52;MQ0=0;MQRankSum=2.612;QD=12.81;ReadPosRankSum=-0.805;SB=-1812.14;TI=NM_001135254;GI=PAX7;FC=Missense_R483H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,112:193:99:2503,0,1870:52:99:0.583 chr1 19166294 rs12033832 G A 672.40 PASS BaseQRankSum=0.935;DP=49;Dels=0.00;FS=7.533;HRun=0;HaplotypeScore=12.9475;MQ=57;MQ0=0;MQRankSum=2.442;QD=13.72;ReadPosRankSum=0.593;SB=-85.83;TI=NM_152232;GI=TAS1R2;FC=Synonymous_S773S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,22:49:99:702,0,720:57:99:0.449 chr1 19175846 rs28374389 T C 1555.67 PASS BaseQRankSum=2.788;DP=161;Dels=0.00;FS=0.612;HRun=0;HaplotypeScore=7.0704;MQ=52;MQ0=0;MQRankSum=1.496;QD=9.66;ReadPosRankSum=-0.608;SB=-787.00;TI=NM_152232;GI=TAS1R2;FC=Missense_I486V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,66:161:99:1586,0,2345:52:99:0.413 chr1 19186129 rs9701796 G C 625.12 PASS BaseQRankSum=0.859;DP=66;Dels=0.00;FS=5.952;HRun=0;HaplotypeScore=5.3863;MQ=57;MQ0=0;MQRankSum=-0.397;QD=9.47;ReadPosRankSum=-0.661;SB=-110.31;TI=NM_152232;GI=TAS1R2;FC=Missense_S9C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,25:66:99:655,0,1228:57:99:0.379 chr1 19201928 rs2230709 C T 1752.65 PASS BaseQRankSum=2.825;DP=138;Dels=0.00;FS=1.347;HRun=0;HaplotypeScore=3.5215;MQ=52;MQ0=0;MQRankSum=-0.966;QD=12.70;ReadPosRankSum=0.188;SB=-1201.77;TI=NM_001161504,NM_170726,NM_003748;GI=ALDH4A1,ALDH4A1,ALDH4A1;FC=Missense_V410I,Missense_V470I,Missense_V470I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,75:138:99:1783,0,1466:52:99:0.543 chr1 19203997 rs2230705 C G 1563.27 PASS BaseQRankSum=-0.018;DP=123;Dels=0.00;FS=1.482;HRun=1;HaplotypeScore=7.0979;MQ=52;MQ0=0;MQRankSum=1.429;QD=12.71;ReadPosRankSum=0.934;SB=-816.82;TI=NM_001161504,NM_170726,NM_003748;GI=ALDH4A1,ALDH4A1,ALDH4A1;FC=Synonymous_A290A,Synonymous_A350A,Synonymous_A350A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,63:123:99:1593,0,1477:52:99:0.512 chr1 19609254 rs1738025 T C 793.28 PASS BaseQRankSum=1.914;DP=71;Dels=0.00;FS=2.021;HRun=0;HaplotypeScore=3.6381;MQ=50;MQ0=2;MQRankSum=0.306;QD=11.17;ReadPosRankSum=-0.342;SB=-493.23;TI=NM_012067;GI=AKR7A3;FC=Missense_T323A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,36:71:99:823,0,804:50:99:0.507 chr1 19611241 rs1738023 T C 1730.89 PASS BaseQRankSum=0.980;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0686;MQ=51;MQ0=1;MQRankSum=1.758;QD=9.83;ReadPosRankSum=-0.609;SB=-1150.14;TI=NM_012067;GI=AKR7A3;FC=Missense_N215D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,82:176:99:1761,0,2067:51:99:0.466 chr1 19612477 rs2231198 C T 1676.76 PASS BaseQRankSum=-1.286;DP=141;Dels=0.00;FS=3.976;HRun=0;HaplotypeScore=6.7030;MQ=50;MQ0=0;MQRankSum=3.078;QD=11.89;ReadPosRankSum=-0.890;SB=-967.62;TI=NM_012067;GI=AKR7A3;FC=Missense_V138M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,67:141:99:1707,0,1690:50:99:0.475 chr1 20304926 rs4744 G A 1526.21 PASS BaseQRankSum=1.263;DP=100;Dels=0.00;FS=2.742;HRun=0;HaplotypeScore=2.5584;MQ=54;MQ0=0;MQRankSum=2.318;QD=15.26;ReadPosRankSum=1.770;SB=-770.34;TI=NM_001161729,NM_001161728,NM_001161727,NM_000300;GI=PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A;FC=Synonymous_Y44Y,Synonymous_Y44Y,Synonymous_Y44Y,Synonymous_Y44Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,60:100:99:1556,0,994:54:99:0.600 chr1 20411332 rs2020887 C T 2756.21 PASS DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=27.02;SB=-1769.17;TI=NM_000929;GI=PLA2G5;FC=Synonymous_G3G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:102:99:2789,202,0:55:99:1.000 chr1 20442054 rs584367 T C 2831.65 PASS BaseQRankSum=1.235;DP=206;Dels=0.00;FS=1.110;HRun=1;HaplotypeScore=6.5336;MQ=51;MQ0=0;MQRankSum=0.739;QD=13.75;ReadPosRankSum=1.311;SB=-1885.85;TI=NM_012400;GI=PLA2G2D;FC=Missense_S80G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,125:206:99:2862,0,1938:51:99:0.607 chr1 20945055 rs1048977 C T 384.98 PASS BaseQRankSum=1.116;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=0.197;QD=9.39;ReadPosRankSum=1.038;SB=-221.13;TI=NM_001785;GI=CDA;FC=Synonymous_T145T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,18:41:99:415,0,655:58:99:0.439 chr1 20960230 rs45530340 C T 686.78 PASS BaseQRankSum=0.128;DP=65;Dels=0.00;FS=2.178;HRun=1;HaplotypeScore=6.2404;MQ=49;MQ0=0;MQRankSum=-1.567;QD=10.57;ReadPosRankSum=0.276;SB=-363.18;TI=NM_032409;GI=PINK1;FC=Synonymous_L63L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,30:65:99:717,0,888:49:99:0.469 chr1 20964328 rs2298298 A G 1467.20 PASS DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=58;MQ0=0;QD=28.77;SB=-687.03;TI=NM_032409;GI=PINK1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:99:1500,111,0:58:99:1.000 chr1 20972048 rs3131713 G A 517.66 PASS DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=46;MQ0=0;QD=25.88;SB=-227.54;TI=NM_032409;GI=PINK1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,20:20:42.13:551,42,0:46:42:1.000 chr1 20977000 rs1043424 A C 3691.86 PASS BaseQRankSum=1.390;DP=256;Dels=0.00;FS=1.027;HRun=0;HaplotypeScore=9.0401;MQ=57;MQ0=0;MQRankSum=0.675;QD=14.42;ReadPosRankSum=-0.749;SB=-1487.07;TI=NM_032409;GI=PINK1;FC=Missense_N521T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,133:256:99:3692,0,3207:57:99:0.524 chr1 20982631 rs4704 G A 1146.81 PASS BaseQRankSum=-1.375;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7541;MQ=53;MQ0=0;MQRankSum=0.343;QD=9.97;ReadPosRankSum=-0.298;SB=-699.60;TI=NM_005216;GI=DDOST;FC=Synonymous_G122G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,48:115:99:1177,0,1693:53:99:0.417 chr1 20987873 rs537816 G C 2779.45 PASS DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7605;MQ=56;MQ0=0;QD=31.95;SB=-1189.14;TI=NM_005216;GI=DDOST;FC=Missense_R8G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2812,208,0:56:99:1.000 chr1 20992819 rs631357 G C 1629.55 PASS DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=28.10;SB=-940.17;TI=NM_020816,NM_001122819;GI=KIF17,KIF17;FC=Missense_D933E,Missense_D932E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1663,123,0:56:99:1.000 chr1 21024901 rs522496 C T 3027.50 PASS DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=26.56;SB=-2055.70;TI=NM_020816,NM_001122819;GI=KIF17,KIF17;FC=Missense_V402M,Missense_V402M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:114:99:3061,217,0:53:99:1.000 chr1 21044161 rs601329 A G 859.29 PASS DP=35;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.9811;MQ=54;MQ0=0;QD=24.55;SB=-395.75;TI=NM_020816,NM_001122819;GI=KIF17,KIF17;FC=Synonymous_R13R,Synonymous_R13R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:35:66.20:892,66,0:54:66:1.000 chr1 21571601 rs12562197 G A 1243.76 PASS BaseQRankSum=0.765;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7557;MQ=56;MQ0=0;MQRankSum=1.964;QD=10.45;ReadPosRankSum=0.829;SB=-619.24;TI=NM_001113347,NM_001113349,NM_001397,NM_001113348;GI=ECE1,ECE1,ECE1,ECE1;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,55:119:99:1274,0,1536:56:99:0.462 chr1 21573722 rs2229450 G A 1685.73 PASS BaseQRankSum=0.234;DP=131;Dels=0.00;FS=3.164;HRun=0;HaplotypeScore=7.3378;MQ=48;MQ0=0;MQRankSum=-0.824;QD=12.87;ReadPosRankSum=-0.443;SB=-1070.46;TI=NM_001113347,NM_001113349,NM_001397,NM_001113348;GI=ECE1,ECE1,ECE1,ECE1;FC=Synonymous_T373T,Synonymous_T382T,Synonymous_T385T,Synonymous_T369T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,74:131:99:1716,0,1233:48:99:0.565 chr1 21889635 rs1780316 T C 5728.15 PASS DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7650;MQ=53;MQ0=0;QD=27.02;SB=-3462.76;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Synonymous_S110S,Synonymous_S33S,Synonymous_S55S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,212:212:99:5728,409,0:53:99:1.000 chr1 21889784 rs35423948 CG C 1162.96 PASS BaseQRankSum=-0.641;DP=104;FS=7.286;HRun=5;HaplotypeScore=57.5726;MQ=54;MQ0=0;MQRankSum=1.343;QD=11.18;ReadPosRankSum=-0.412;SB=-252.80;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,39:104:99:1202,0,1941:54:99:0.375 chr1 22149935 rs897467 T C 2803.94 PASS DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.2285;MQ=54;MQ0=0;QD=28.32;SB=-1401.11;TI=NM_001013693,NM_005529;GI=LDLRAD2,HSPG2;FC=Silent,Synonymous_S4350S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:99:99:2837,208,0:54:99:1.000 chr1 22191454 rs897471 G A 2609.52 PASS BaseQRankSum=2.044;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7576;MQ=54;MQ0=0;MQRankSum=1.557;QD=28.68;ReadPosRankSum=-0.122;SB=-1410.95;TI=NM_005529;GI=HSPG2;FC=Missense_A1503V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,89:91:99:2643,144,0:54:99:0.978 chr1 22199245 rs2229482 C T 1859.20 PASS DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=56;MQ0=0;QD=28.60;SB=-1158.46;TI=NM_005529;GI=HSPG2;FC=Synonymous_V1299V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:1892,135,0:56:99:1.000 chr1 22201438 rs41307806 C T 1965.70 PASS BaseQRankSum=2.612;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3880;MQ=51;MQ0=0;MQRankSum=1.470;QD=15.12;ReadPosRankSum=-1.228;SB=-1333.80;TI=NM_005529;GI=HSPG2;FC=Synonymous_A1120A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,84:130:99:1996,0,1019:51:99:0.651 chr1 22206649 rs989994 T C 3216.53 PASS DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=27.49;SB=-1817.09;TI=NM_005529;GI=HSPG2;FC=Missense_N765S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,117:117:99:3250,232,0:52:99:1.000 chr1 22206942 rs1874793 G A 4467.86 PASS DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=49;MQ0=0;QD=26.91;SB=-3156.30;TI=NM_005529;GI=HSPG2;FC=Synonymous_A703A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,166:166:99:4468,322,0:49:99:1.000 chr1 22207235 rs1874792 T C 2862.68 PASS DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4072;MQ=52;MQ0=0;QD=26.75;SB=-1932.66;TI=NM_005529;GI=HSPG2;FC=Missense_M638V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:107:99:2896,211,0:52:99:1.000 chr1 22214046 rs41307868 C T 1796.66 PASS BaseQRankSum=1.612;DP=190;Dels=0.00;FS=1.171;HRun=0;HaplotypeScore=14.1627;MQ=56;MQ0=0;MQRankSum=1.497;QD=9.46;ReadPosRankSum=-1.623;SB=-1179.50;TI=NM_005529;GI=HSPG2;FC=Synonymous_L275L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,77:190:99:1827,0,2855:56:99:0.405 chr1 22216574 rs2254358 C A 2321.76 PASS DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=53;MQ0=0;QD=27.31;SB=-1559.36;TI=NM_005529;GI=HSPG2;FC=Synonymous_G158G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2355,169,0:53:99:1.000 chr1 22216604 rs2254357 C G 2120.26 PASS BaseQRankSum=-1.732;DP=83;Dels=0.00;FS=3.064;HRun=0;HaplotypeScore=7.5904;MQ=55;MQ0=0;MQRankSum=1.607;QD=25.55;ReadPosRankSum=1.649;SB=-1456.09;TI=NM_005529;GI=HSPG2;FC=Synonymous_L148L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,82:83:99:2153,122,0:55:99:0.988 chr1 22217108 rs2501260 G A 3401.33 PASS DP=107;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=11.9599;MQ=56;MQ0=0;QD=31.79;SB=-1669.67;TI=NM_005529;GI=HSPG2;FC=Synonymous_F108F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:107:99:3401,253,0:56:99:1.000 chr1 22835677 rs209729 A G 695.26 PASS BaseQRankSum=1.635;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=1.010;QD=13.12;ReadPosRankSum=-0.867;SB=-435.38;TI=NM_001083621,NM_014870;GI=ZBTB40,ZBTB40;FC=Missense_Y595C,Missense_Y595C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,29:53:99:725,0,640:53:99:0.547 chr1 22837849 rs209727 C T 1147.57 PASS BaseQRankSum=0.037;DP=115;Dels=0.00;FS=3.487;HRun=0;HaplotypeScore=6.5193;MQ=57;MQ0=0;MQRankSum=2.318;QD=9.98;ReadPosRankSum=-0.239;SB=-745.75;TI=NM_001083621,NM_014870;GI=ZBTB40,ZBTB40;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,52:115:99:1178,0,1524:57:99:0.452 chr1 22846709 rs209720 G A 2398.04 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7991;MQ=55;MQ0=0;QD=26.94;SB=-1460.90;TI=NM_001083621,NM_014870;GI=ZBTB40,ZBTB40;FC=Missense_V997M,Missense_V997M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2431,175,0:55:99:1.000 chr1 22965438 rs172378 A G 1779.54 PASS BaseQRankSum=0.978;DP=146;Dels=0.00;FS=3.446;HRun=2;HaplotypeScore=10.8956;MQ=56;MQ0=0;MQRankSum=1.327;QD=12.19;ReadPosRankSum=-0.522;SB=-607.21;TI=NM_015991;GI=C1QA;FC=Synonymous_G92G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,67:146:99:1810,0,2148:56:99:0.462 chr1 22970642 rs80083522 C T 660.08 PASS BaseQRankSum=2.666;DP=62;Dels=0.00;FS=2.188;HRun=0;HaplotypeScore=3.5489;MQ=50;MQ0=0;MQRankSum=-0.790;QD=10.65;ReadPosRankSum=-0.578;SB=-468.06;TI=NM_172369,NM_001114101;GI=C1QC,C1QC;FC=Synonymous_P42P,Synonymous_P42P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,29:62:99:690,0,772:50:99:0.468 chr1 23219493 rs309472 T C 1277.83 PASS BaseQRankSum=1.657;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=0.377;QD=27.78;ReadPosRankSum=-1.431;SB=-631.23;TI=NM_004442,NM_017449;GI=EPHB2,EPHB2;FC=Synonymous_G515G,Synonymous_G515G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,45:46:93.31:1311,93,0:55:93:0.978 chr1 23885498 rs11574 T C 2947.00 PASS DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=56;MQ0=0;QD=30.38;SB=-1425.96;TI=NM_002167;GI=ID3;FC=Missense_T105A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:2980,220,0:56:99:1.000 chr1 24123210 . G A 4131.52 PASS BaseQRankSum=-1.375;DP=296;Dels=0.00;FS=1.420;HRun=1;HaplotypeScore=9.2045;MQ=55;MQ0=0;MQRankSum=1.134;QD=13.96;ReadPosRankSum=-0.188;SB=-2623.36;TI=NM_001127621,NM_000403,NM_001008216;GI=GALE,GALE,GALE;FC=Synonymous_L258L,Synonymous_L258L,Synonymous_L258L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,171:296:99:4132,0,3150:55:99:0.578 chr1 24134721 rs719400 T C 8224.78 PASS DP=289;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=53;MQ0=0;QD=28.46;SB=-4797.52;TI=NM_000191,NM_001166059;GI=HMGCL,HMGCL;FC=Synonymous_L218L,Synonymous_L147L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,289:289:99:8225,593,0:53:99:1.000 chr1 24194748 rs2070956 G C 423.71 PASS BaseQRankSum=0.358;DP=24;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6643;MQ=57;MQ0=0;MQRankSum=-1.252;QD=17.65;ReadPosRankSum=-0.835;SB=-40.65;TI=NM_000147;GI=FUCA1;FC=Missense_P10R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,15:24:99:454,0,282:57:99:0.625 chr1 24194773 rs2070955 G A 352.56 SB;LowDP BaseQRankSum=0.395;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6643;MQ=56;MQ0=0;MQRankSum=0.219;QD=18.56;ReadPosRankSum=-0.395;SB=-0.01;TI=NM_000147;GI=FUCA1;FC=Missense_R2W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,13:19:99:383,0,140:56:99:0.684 chr1 24201094 rs2229581 G C 56.30 LowDP BaseQRankSum=0.071;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=57;MQ0=0;MQRankSum=1.626;QD=4.02;ReadPosRankSum=0.071;SB=-28.61;TI=NM_001841;GI=CNR2;FC=Synonymous_T338T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,4:14:86.30:86,0,343:57:56:0.286 chr1 24201109 rs2229580 C T 93.25 LowDP BaseQRankSum=1.991;DP=19;Dels=0.00;FS=2.251;HRun=1;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=0.694;QD=4.91;ReadPosRankSum=0.139;SB=-19.59;TI=NM_001841;GI=CNR2;FC=Synonymous_P333P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,5:19:99:123,0,348:58:93:0.263 chr1 24201262 rs2502993 A G 439.09 PASS BaseQRankSum=0.226;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8937;MQ=56;MQ0=0;MQRankSum=1.381;QD=16.26;ReadPosRankSum=-0.427;SB=-242.71;TI=NM_001841;GI=CNR2;FC=Synonymous_A282A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,17:27:99:469,0,229:56:99:0.630 chr1 24201357 rs4649124 A G 306.49 PASS BaseQRankSum=1.154;DP=22;Dels=0.00;FS=10.041;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.758;QD=13.93;ReadPosRankSum=0.692;SB=-54.21;TI=NM_001841;GI=CNR2;FC=Synonymous_L251L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,10:22:99:336,0,333:57:99:0.455 chr1 24201448 rs3003336 C T 301.13 PASS BaseQRankSum=-0.348;DP=24;Dels=0.00;FS=6.204;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=1.217;QD=12.55;ReadPosRankSum=-0.869;SB=-77.37;TI=NM_001841;GI=CNR2;FC=Synonymous_V220V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,11:24:99:331,0,377:57:99:0.458 chr1 24201643 rs2501431 G A 402.07 PASS BaseQRankSum=-1.403;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=-0.889;QD=12.97;ReadPosRankSum=-0.652;SB=-225.80;TI=NM_001841;GI=CNR2;FC=Synonymous_G155G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,15:31:99:432,0,518:59:99:0.484 chr1 24201911 rs61996280 C T 433.46 PASS BaseQRankSum=1.189;DP=27;Dels=0.00;FS=9.204;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-0.461;QD=16.05;ReadPosRankSum=-0.364;SB=-91.21;TI=NM_001841;GI=CNR2;FC=Missense_R66Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,14:27:99:463,0,311:57:99:0.519 chr1 24201919 rs2502992 T C 285.62 PASS BaseQRankSum=0.655;DP=27;Dels=0.00;FS=6.455;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.461;QD=10.58;ReadPosRankSum=0.315;SB=-189.39;TI=NM_001841;GI=CNR2;FC=Synonymous_Q63Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,13:27:99:316,0,421:57:99:0.481 chr1 24201920 rs2501432 T C 284.13 PASS BaseQRankSum=-0.170;DP=27;Dels=0.00;FS=9.204;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-1.723;QD=10.52;ReadPosRankSum=0.121;SB=-186.05;TI=NM_001841;GI=CNR2;FC=Missense_Q63R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,13:27:99:314,0,450:57:99:0.481 chr1 25291010 rs6672420 A T 1384.80 PASS BaseQRankSum=1.269;DP=104;Dels=0.00;FS=0.751;HRun=1;HaplotypeScore=5.3533;MQ=47;MQ0=0;MQRankSum=-0.924;QD=13.32;ReadPosRankSum=0.063;SB=-968.46;TI=NM_001031680;GI=RUNX3;FC=Missense_I18N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,62:104:99:1415,0,904:47:99:0.596 chr1 25643553 rs61740966 T C 5.06 LowGQX;LowGQ;SB;LowDP DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=16;MQ0=1;QD=1.27;SB=-0.01;TI=NM_001127691,NM_016124;GI=RHD,RHD;FC=Silent,Missense_M379T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,3:4:3.01:33,3,0:16:3:1.000 chr1 25747230 rs586178 G C 447.22 LowVariantFreq BaseQRankSum=-1.329;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6541;MQ=41;MQ0=0;MQRankSum=-2.915;QD=3.70;ReadPosRankSum=2.090;SB=-174.03;TI=NM_138617,NM_020485,NM_138618,NM_138616;GI=RHCE,RHCE,RHCE,RHCE;FC=Missense_C16W,Missense_C16W,Missense_C16W,Missense_C16W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,24:121:99:477,0,2294:41:99:0.198 chr1 25889632 rs6687605 T C 1251.03 PASS DP=46;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.20;SB=-857.47;TI=NM_015627;GI=LDLRAP1;FC=Missense_S202P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:93.30:1284,93,0:54:93:1.000 chr1 25890189 rs28969504 A G 2100.43 PASS DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.59;SB=-1505.02;TI=NM_015627;GI=LDLRAP1;FC=Synonymous_T218T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2133,150,0:53:99:1.000 chr1 26504036 rs17356937 G A 986.79 PASS BaseQRankSum=-1.792;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5383;MQ=49;MQ0=0;MQRankSum=0.171;QD=9.14;ReadPosRankSum=-0.898;SB=-642.30;TI=NM_006314,NR_023345;GI=CNKSR1,CNKSR1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,46:108:99:1017,0,1417:49:99:0.426 chr1 26508997 rs2802347 C T 2139.29 PASS BaseQRankSum=1.620;DP=175;Dels=0.00;FS=1.188;HRun=0;HaplotypeScore=7.1527;MQ=52;MQ0=0;MQRankSum=0.871;QD=12.22;ReadPosRankSum=-1.217;SB=-1491.42;TI=NM_006314,NR_023345;GI=CNKSR1,CNKSR1;FC=Synonymous_H182H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,91:175:99:2169,0,1904:52:99:0.520 chr1 26517267 rs41284333 A G 474.15 PASS BaseQRankSum=1.654;DP=59;Dels=0.00;FS=2.322;HRun=0;HaplotypeScore=0.9832;MQ=54;MQ0=0;MQRankSum=1.513;QD=8.04;ReadPosRankSum=0.055;SB=-243.59;TI=NM_198137;GI=CATSPER4;FC=Missense_H50R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,22:59:99:504,0,875:54:99:0.373 chr1 26517773 rs11247865 T C 437.45 PASS BaseQRankSum=-0.166;DP=60;Dels=0.00;FS=1.096;HRun=2;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=-0.578;QD=7.29;ReadPosRankSum=1.195;SB=-202.74;TI=NM_198137;GI=CATSPER4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,21:60:99:467,0,894:54:99:0.356 chr1 26517794 rs11247866 A G 683.98 PASS BaseQRankSum=-0.363;DP=75;Dels=0.00;FS=1.915;HRun=2;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=-0.656;QD=9.12;ReadPosRankSum=-1.481;SB=-449.87;TI=NM_198137;GI=CATSPER4;FC=Missense_Q77R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,34:75:99:714,0,1062:51:99:0.459 chr1 26517891 rs11247867 C T 771.34 PASS BaseQRankSum=0.305;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2285;MQ=53;MQ0=0;MQRankSum=-1.041;QD=10.71;ReadPosRankSum=0.224;SB=-420.88;TI=NM_198137;GI=CATSPER4;FC=Synonymous_I109I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,35:72:99:801,0,954:53:99:0.493 chr1 26526439 rs17257155 A G 763.49 PASS BaseQRankSum=0.342;DP=74;Dels=0.00;FS=1.915;HRun=0;HaplotypeScore=1.7608;MQ=55;MQ0=0;MQRankSum=-0.895;QD=10.32;ReadPosRankSum=-0.938;SB=-462.34;TI=NM_198137;GI=CATSPER4;FC=Missense_I293V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,34:74:99:793,0,957:55:99:0.459 chr1 26751946 . G A 514.19 PASS BaseQRankSum=-0.717;DP=40;Dels=0.00;FS=4.773;HRun=3;HaplotypeScore=2.6548;MQ=53;MQ0=0;MQRankSum=-0.230;QD=12.85;ReadPosRankSum=-2.637;SB=-192.54;TI=NM_024674;GI=LIN28A;FC=Synonymous_K127K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,20:40:99:544,0,395:53:99:0.500 chr1 26786627 rs3816539 G A 970.54 PASS BaseQRankSum=1.581;DP=88;Dels=0.00;FS=4.039;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=2.351;QD=11.03;ReadPosRankSum=0.284;SB=-525.09;TI=NM_205861,NM_024887;GI=DHDDS,DHDDS;FC=Missense_V253M,Missense_V253M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,41:88:99:1001,0,1037:51:99:0.466 chr1 27102188 rs61756316 A G 1100.21 PASS BaseQRankSum=1.754;DP=113;Dels=0.00;FS=1.534;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=0.673;QD=9.74;ReadPosRankSum=-1.223;SB=-690.22;TI=NM_006015,NM_139135;GI=ARID1A,ARID1A;FC=Missense_N1705S,Missense_N1488S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,50:113:99:1130,0,1722:55:99:0.442 chr1 28586376 rs34315986 C G 435.02 PASS BaseQRankSum=1.879;DP=60;Dels=0.00;FS=2.287;HRun=1;HaplotypeScore=3.7602;MQ=53;MQ0=0;MQRankSum=1.618;QD=7.25;ReadPosRankSum=-1.772;SB=-265.64;TI=NM_031459;GI=SESN2;FC=Synonymous_S6S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,22:60:99:465,0,974:53:99:0.367 chr1 29138975 rs1042114 G T 927.38 PASS DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=55;MQ0=0;QD=28.10;SB=-289.68;TI=NM_000911;GI=OPRD1;FC=Missense_C27F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:72.22:960,72,0:55:72:1.000 chr1 29189597 rs2234918 C T 1307.18 PASS DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5463;MQ=54;MQ0=0;QD=29.71;SB=-631.27;TI=NM_000911;GI=OPRD1;FC=Synonymous_G307G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:99:1340,99,0:54:99:1.000 chr1 32670842 . C A 2112.00 PASS BaseQRankSum=1.668;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9996;MQ=52;MQ0=0;MQRankSum=1.313;QD=11.35;ReadPosRankSum=2.345;SB=-1202.05;TI=NM_024296;GI=CCDC28B;FC=Missense_A199D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,88:186:99:2142,0,2239:52:99:0.473 chr1 35259946 rs1764389 G A 1689.18 PASS BaseQRankSum=1.440;DP=114;Dels=0.00;FS=4.620;HRun=0;HaplotypeScore=4.4156;MQ=56;MQ0=0;MQRankSum=1.730;QD=14.82;ReadPosRankSum=-0.556;SB=-837.39;TI=NM_002060;GI=GJA4;FC=Synonymous_V44V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,59:114:99:1719,0,1334:56:99:0.518 chr1 35259961 rs1764390 A G 3560.16 PASS BaseQRankSum=0.924;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5146;MQ=55;MQ0=0;MQRankSum=0.433;QD=29.67;ReadPosRankSum=-0.404;SB=-2147.07;TI=NM_002060;GI=GJA4;FC=Synonymous_Q49Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,119:120:99:3560,225,0:55:99:0.992 chr1 35260769 rs1764391 C T 1327.55 PASS BaseQRankSum=-1.335;DP=81;Dels=0.00;FS=2.031;HRun=0;HaplotypeScore=7.0156;MQ=51;MQ0=0;MQRankSum=1.029;QD=16.39;ReadPosRankSum=-0.261;SB=-564.21;TI=NM_002060;GI=GJA4;FC=Missense_P319S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,52:81:99:1358,0,674:51:99:0.642 chr1 35350573 rs66657606 CT C 1617.78 PASS BaseQRankSum=2.080;DP=95;FS=2.683;HRun=3;HaplotypeScore=41.2284;MQ=52;MQ0=0;MQRankSum=-1.664;QD=17.03;ReadPosRankSum=2.341;SB=-812.81;TI=NM_001080418;GI=DLGAP3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,48:95:99:1657,0,1626:52:99:0.505 chr1 36553673 rs399393 A G 6675.40 PASS DP=241;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.5982;MQ=54;MQ0=0;QD=27.70;SB=-4556.15;TI=NM_014466;GI=TEKT2;FC=Synonymous_T393T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,241:241:99:6675,479,0:54:99:1.000 chr1 36937059 rs3917981 A G 3413.75 PASS DP=111;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.3873;MQ=55;MQ0=0;QD=30.75;SB=-1407.79;TI=NM_172313,NM_156039,NM_000760;GI=CSF3R,CSF3R,CSF3R;FC=Synonymous_T420T,Synonymous_T420T,Synonymous_T420T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,111:111:99:3414,253,0:55:99:1.000 chr1 36937065 rs3917980 A G 1346.62 PASS BaseQRankSum=0.255;DP=120;Dels=0.00;FS=3.555;HRun=3;HaplotypeScore=10.1548;MQ=55;MQ0=0;MQRankSum=2.198;QD=11.22;ReadPosRankSum=-0.621;SB=-499.11;TI=NM_172313,NM_156039,NM_000760;GI=CSF3R,CSF3R,CSF3R;FC=Synonymous_R418R,Synonymous_R418R,Synonymous_R418R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,51:120:99:1377,0,1708:55:99:0.425 chr1 38006359 rs2174769 A G 1009.54 PASS BaseQRankSum=-1.135;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=52;MQ0=0;MQRankSum=0.774;QD=9.71;ReadPosRankSum=0.846;SB=-583.08;TI=NM_024700;GI=SNIP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,45:104:99:1040,0,1391:52:99:0.433 chr1 38019747 rs2273013 C T 1004.71 PASS BaseQRankSum=0.395;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0861;MQ=55;MQ0=0;MQRankSum=0.463;QD=11.55;ReadPosRankSum=-0.659;SB=-465.12;TI=NM_024700;GI=SNIP1;FC=Synonymous_V28V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,41:87:99:1035,0,1170:55:99:0.471 chr1 40363054 rs3134614 G C 1097.92 PASS BaseQRankSum=0.614;DP=88;Dels=0.00;FS=1.854;HRun=0;HaplotypeScore=6.5683;MQ=56;MQ0=0;MQRankSum=-0.748;QD=12.48;ReadPosRankSum=-1.976;SB=-434.67;TI=NM_001033082,NM_001033081;GI=MYCL1,MYCL1;FC=Missense_T392S,Missense_T362S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,42:88:99:1128,0,1080:56:99:0.477 chr1 40981125 . G C 725.81 PASS BaseQRankSum=-0.242;DP=64;Dels=0.00;FS=2.094;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.322;QD=11.34;ReadPosRankSum=1.840;SB=-492.85;TI=NM_022774;GI=DEM1;FC=Synonymous_L303L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,31:64:99:756,0,866:58:99:0.484 chr1 41285087 rs4660468 T C 530.18 PASS BaseQRankSum=0.733;DP=56;Dels=0.00;FS=1.050;HRun=1;HaplotypeScore=2.7041;MQ=49;MQ0=0;MQRankSum=-0.600;QD=9.47;ReadPosRankSum=-1.282;SB=-297.74;TI=NM_004700,NM_172163;GI=KCNQ4,KCNQ4;FC=Synonymous_A259A,Synonymous_A259A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,23:56:99:560,0,746:49:99:0.411 chr1 43212431 rs4660662 A G 8742.50 PASS DP=330;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=15.0440;MQ=53;MQ0=0;QD=26.49;SB=-5873.48;TI=NM_001146289,NM_022356;GI=LEPRE1,LEPRE1;FC=Silent,Synonymous_G716G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,329:330:99:8742,632,0:53:99:1.000 chr1 43296118 rs12124733 G A 197.09 LowDP BaseQRankSum=-1.467;DP=14;Dels=0.00;FS=2.363;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.400;QD=14.08;ReadPosRankSum=-0.800;SB=-92.37;TI=NM_001017922,NM_018538;GI=ERMAP,ERMAP;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,9:14:99:227,0,103:54:99:0.643 chr1 43649393 rs663336 T C 1072.75 PASS BaseQRankSum=1.556;DP=114;Dels=0.00;FS=2.493;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=-1.135;QD=9.41;ReadPosRankSum=0.156;SB=-675.40;TI=NM_001167965,NM_152498,NR_030778,NM_001195831,NM_001167966;GI=WDR65,WDR65,WDR65,WDR65,WDR65;FC=Synonymous_A202A,Synonymous_A202A,Silent,Synonymous_A202A,Synonymous_A202A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,52:114:99:1103,0,1455:52:99:0.456 chr1 43649508 rs663824 A G 516.61 PASS BaseQRankSum=0.585;DP=40;Dels=0.00;FS=1.722;HRun=0;HaplotypeScore=1.9994;MQ=57;MQ0=0;MQRankSum=0.612;QD=12.92;ReadPosRankSum=-0.204;SB=-62.60;TI=NM_001167965,NM_152498,NR_030778,NM_001195831,NM_001167966;GI=WDR65,WDR65,WDR65,WDR65,WDR65;FC=Missense_N241D,Missense_N241D,Silent,Missense_N241D,Missense_N241D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,18:40:99:547,0,637:57:99:0.450 chr1 43652369 rs6413971 T C 1155.96 PASS DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=32.11;SB=-342.90;TI=NM_001167965,NM_152498,NR_030778,NM_001195831,NM_001167966;GI=WDR65,WDR65,WDR65,WDR65,WDR65;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,36:36:90.29:1189,90,0:55:90:1.000 chr1 43675467 rs2453412 G A 1119.69 PASS BaseQRankSum=2.197;DP=97;Dels=0.00;FS=2.779;HRun=0;HaplotypeScore=7.5471;MQ=58;MQ0=0;MQRankSum=2.291;QD=11.54;ReadPosRankSum=1.461;SB=-539.38;TI=NM_001167965,NM_152498,NR_030778,NM_001195831,NM_001167966;GI=WDR65,WDR65,WDR65,WDR65,WDR65;FC=Synonymous_S603S,Synonymous_S603S,Silent,Synonymous_S603S,Synonymous_S603S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,49:97:99:1150,0,1123:58:99:0.505 chr1 43680952 rs74422853 C T 670.99 PASS BaseQRankSum=-0.963;DP=84;Dels=0.00;FS=4.391;HRun=2;HaplotypeScore=5.3645;MQ=51;MQ0=0;MQRankSum=1.785;QD=7.99;ReadPosRankSum=2.083;SB=-436.83;TI=NM_001195831;GI=WDR65;FC=Synonymous_F652F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,36:84:99:701,0,1158:51:99:0.429 chr1 43699970 rs2484714 G A 600.91 PASS BaseQRankSum=-0.365;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6381;MQ=54;MQ0=0;MQRankSum=1.452;QD=11.34;ReadPosRankSum=-0.561;SB=-373.80;TI=NM_001195831;GI=WDR65;FC=Synonymous_L1049L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,28:53:99:631,0,663:54:99:0.528 chr1 44063424 . T C 187.49 SB BaseQRankSum=-4.333;DP=79;Dels=0.00;FS=35.963;HRun=5;HaplotypeScore=38.2010;MQ=44;MQ0=0;MQRankSum=-3.747;QD=2.37;ReadPosRankSum=1.348;SB=-0.01;TI=NM_002840,NM_130440;GI=PTPRF,PTPRF;FC=Missense_S607P,Missense_S607P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,24:79:99:217,0,1392:44:99:0.304 chr1 44063427 . G C 47.19 SB BaseQRankSum=-4.954;DP=77;Dels=0.00;FS=19.771;HRun=4;HaplotypeScore=47.0399;MQ=44;MQ0=0;MQRankSum=-4.764;QD=0.61;ReadPosRankSum=2.056;SB=-0.01;TI=NM_002840,NM_130440;GI=PTPRF,PTPRF;FC=Missense_A608P,Missense_A608P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,17:77:77.18:77,0,1600:44:47:0.227 chr1 44063432 . T C 174.45 SB BaseQRankSum=-5.936;DP=76;Dels=0.00;FS=40.982;HRun=4;HaplotypeScore=36.8449;MQ=44;MQ0=0;MQRankSum=-4.658;QD=2.30;ReadPosRankSum=1.221;SB=-0.01;TI=NM_002840,NM_130440;GI=PTPRF,PTPRF;FC=Synonymous_P609P,Synonymous_P609P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,23:76:99:204,0,1526:44:99:0.303 chr1 44071221 rs631248 G A 2261.82 PASS BaseQRankSum=3.965;DP=188;Dels=0.00;FS=6.357;HRun=0;HaplotypeScore=10.8164;MQ=53;MQ0=0;MQRankSum=0.231;QD=12.03;ReadPosRankSum=-0.477;SB=-1602.49;TI=NM_002840,NM_130440;GI=PTPRF,PTPRF;FC=Synonymous_V1137V,Synonymous_V1128V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,97:188:99:2292,0,2210:53:99:0.519 chr1 44072018 rs1065772 C T 1125.90 PASS BaseQRankSum=0.065;DP=103;Dels=0.00;FS=0.758;HRun=3;HaplotypeScore=9.3636;MQ=56;MQ0=0;MQRankSum=1.421;QD=10.93;ReadPosRankSum=2.935;SB=-562.18;TI=NM_002840,NM_130440;GI=PTPRF,PTPRF;FC=Synonymous_T1197T,Synonymous_T1188T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,44:103:99:1156,0,1457:56:99:0.436 chr1 44072066 rs10890266 C T 1431.86 PASS BaseQRankSum=0.415;DP=128;Dels=0.00;FS=1.455;HRun=0;HaplotypeScore=5.3371;MQ=53;MQ0=0;MQRankSum=0.272;QD=11.19;ReadPosRankSum=0.162;SB=-902.82;TI=NM_002840,NM_130440;GI=PTPRF,PTPRF;FC=Synonymous_P1213P,Synonymous_P1204P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,65:128:99:1462,0,1537:53:99:0.508 chr1 44083110 rs571862 C T 871.77 PASS BaseQRankSum=1.765;DP=91;Dels=0.00;FS=1.809;HRun=1;HaplotypeScore=4.4704;MQ=53;MQ0=0;MQRankSum=1.054;QD=9.58;ReadPosRankSum=0.780;SB=-418.53;TI=NM_002840,NM_130440;GI=PTPRF,PTPRF;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,37:91:99:902,0,1291:53:99:0.407 chr1 44083507 rs641365 T C 3194.53 PASS BaseQRankSum=2.611;DP=324;Dels=0.00;FS=0.860;HRun=0;HaplotypeScore=19.8627;MQ=55;MQ0=0;MQRankSum=2.134;QD=9.86;ReadPosRankSum=-0.204;SB=-2180.58;TI=NM_002840,NM_130440;GI=PTPRF,PTPRF;FC=Synonymous_G1432G,Synonymous_G1423G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:177,144:324:99:3225,0,4269:55:99:0.449 chr1 44083519 rs641351 G A 3286.44 PASS BaseQRankSum=-0.236;DP=315;Dels=0.00;FS=0.416;HRun=1;HaplotypeScore=25.4774;MQ=55;MQ0=0;MQRankSum=1.628;QD=10.43;ReadPosRankSum=1.139;SB=-2035.46;TI=NM_002840,NM_130440;GI=PTPRF,PTPRF;FC=Synonymous_R1436R,Synonymous_R1427R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:174,141:315:99:3286,0,4197:55:99:0.448 chr1 44084739 rs1143701 C T 921.87 PASS BaseQRankSum=1.765;DP=81;Dels=0.00;FS=1.823;HRun=0;HaplotypeScore=9.1993;MQ=55;MQ0=0;MQRankSum=0.506;QD=11.38;ReadPosRankSum=1.027;SB=-451.51;TI=NM_002840,NM_130440;GI=PTPRF,PTPRF;FC=Synonymous_R1504R,Synonymous_R1495R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,38:81:99:952,0,1038:55:99:0.469 chr1 44086831 rs1143702 C T 2873.08 PASS BaseQRankSum=0.239;DP=257;Dels=0.00;FS=5.056;HRun=0;HaplotypeScore=10.3213;MQ=52;MQ0=0;MQRankSum=0.163;QD=11.18;ReadPosRankSum=-1.042;SB=-1569.76;TI=NM_002840,NM_130440;GI=PTPRF,PTPRF;FC=Synonymous_Y1861Y,Synonymous_Y1852Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:139,117:257:99:2903,0,3339:52:99:0.457 chr1 44290530 rs37458 A G 361.67 PASS BaseQRankSum=1.145;DP=34;Dels=0.00;FS=1.320;HRun=0;HaplotypeScore=4.6540;MQ=54;MQ0=0;MQRankSum=0.694;QD=10.64;ReadPosRankSum=-2.254;SB=-190.24;TI=NM_174967,NM_174968,NM_174965,NM_174969,NM_174963,NM_174964,NM_174970,NM_174971,NM_174966,NM_006279;GI=ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3;FC=Silent,Missense_T113A,Silent,Silent,Missense_T128A,Silent,Silent,Missense_T97A,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,15:34:99:392,0,447:54:99:0.441 chr1 45293518 rs7525308 A G 862.10 PASS BaseQRankSum=1.081;DP=51;Dels=0.00;FS=1.227;HRun=1;HaplotypeScore=1.8499;MQ=58;MQ0=0;MQRankSum=-0.236;QD=16.90;ReadPosRankSum=-0.039;SB=-241.27;TI=NM_001166292,NM_003738;GI=PTCH2,PTCH2;FC=Synonymous_A685A,Synonymous_A685A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,29:51:99:892,0,606:58:99:0.580 chr1 45293752 rs2295997 T C 1216.34 PASS BaseQRankSum=2.174;DP=85;Dels=0.00;FS=2.114;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.190;QD=14.31;ReadPosRankSum=1.010;SB=-336.19;TI=NM_001166292,NM_003738;GI=PTCH2,PTCH2;FC=Synonymous_E607E,Synonymous_E607E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,46:85:99:1246,0,1002:57:99:0.541 chr1 45444038 rs11556200 G A 2319.33 PASS BaseQRankSum=0.042;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7875;MQ=54;MQ0=0;MQRankSum=2.101;QD=12.89;ReadPosRankSum=1.224;SB=-1426.46;TI=NM_020365,NM_001166588;GI=EIF2B3,EIF2B3;FC=Synonymous_D81D,Synonymous_D81D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,94:180:99:2349,0,2007:54:99:0.522 chr1 45800156 rs3219484 C T 1167.78 PASS BaseQRankSum=-0.153;DP=98;Dels=0.00;FS=2.639;HRun=0;HaplotypeScore=4.6751;MQ=53;MQ0=0;MQRankSum=1.510;QD=11.92;ReadPosRankSum=-1.738;SB=-769.93;TI=NM_001048174,NM_001048173,NM_001048172,NM_001128425,NM_012222,NM_001048171;GI=MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH;FC=Missense_V8M,Missense_V8M,Missense_V8M,Missense_V22M,Missense_V22M,Missense_V22M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,50:98:99:1198,0,1073:53:99:0.510 chr1 45973928 rs2275276 G A 2316.07 PASS BaseQRankSum=2.975;DP=221;Dels=0.00;FS=3.870;HRun=0;HaplotypeScore=6.5527;MQ=54;MQ0=0;MQRankSum=1.356;QD=10.48;ReadPosRankSum=-0.522;SB=-1601.38;TI=NM_015506;GI=MMACHC;FC=Synonymous_V107V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,104:221:99:2346,0,2859:54:99:0.471 chr1 46655158 rs6659553 T C 7571.11 PASS DP=264;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1707;MQ=54;MQ0=0;QD=28.68;SB=-4540.08;TI=NM_017739,NR_024332;GI=POMGNT1,POMGNT1;FC=Missense_M623V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,262:264:99:7571,548,0:54:99:1.000 chr1 46660295 rs2292487 T C 1781.47 PASS BaseQRankSum=3.164;DP=126;Dels=0.00;FS=8.905;HRun=0;HaplotypeScore=9.4104;MQ=53;MQ0=0;MQRankSum=-0.439;QD=14.14;ReadPosRankSum=1.839;SB=-985.52;TI=NM_017739,NR_024332;GI=POMGNT1,POMGNT1;FC=Synonymous_K227K,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,70:126:99:1811,0,1353:53:99:0.556 chr1 46726575 . G A 1114.85 PASS BaseQRankSum=2.272;DP=106;Dels=0.00;FS=1.561;HRun=0;HaplotypeScore=5.7870;MQ=53;MQ0=0;MQRankSum=0.226;QD=10.52;ReadPosRankSum=-0.188;SB=-682.34;TI=NM_001142548,NM_003579;GI=RAD54L,RAD54L;FC=Synonymous_S218S,Synonymous_S218S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,46:106:99:1145,0,1472:53:99:0.434 chr1 46870761 rs324420 C A 1178.49 PASS BaseQRankSum=-0.737;DP=90;Dels=0.00;FS=2.848;HRun=0;HaplotypeScore=9.2247;MQ=52;MQ0=0;MQRankSum=-1.969;QD=13.09;ReadPosRankSum=-0.875;SB=-778.14;TI=NM_001441;GI=FAAH;FC=Missense_P129T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,49:90:99:1208,0,1000:52:99:0.544 chr1 46871746 rs41305628 G A 1410.43 PASS BaseQRankSum=0.794;DP=141;Dels=0.00;FS=2.280;HRun=1;HaplotypeScore=11.8946;MQ=57;MQ0=0;MQRankSum=-0.491;QD=10.00;ReadPosRankSum=-0.736;SB=-694.45;TI=NM_001441;GI=FAAH;FC=Synonymous_E274E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,63:141:99:1440,0,2120:57:99:0.447 chr1 46871986 rs324419 T C 6111.92 PASS DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7729;MQ=52;MQ0=0;QD=27.29;SB=-3613.08;TI=NM_001441;GI=FAAH;FC=Synonymous_C299C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,223:224:99:6112,442,0:52:99:1.000 chr1 47280746 rs3215983 GAT G 10129.92 PASS DP=184;FS=0.000;HRun=0;HaplotypeScore=510.8026;MQ=54;MQ0=0;QD=55.05;SB=-4300.75;TI=NM_001099772,NM_000779;GI=CYP4B1,CYP4B1;FC=Splicing,Splicing;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,183:184:99:10130,554,0:54:99:0.995 chr1 47280859 rs2297810 G A 6944.30 PASS DP=259;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9891;MQ=53;MQ0=0;QD=26.81;SB=-4794.80;TI=NM_001099772,NM_000779;GI=CYP4B1,CYP4B1;FC=Missense_M332I,Missense_M331I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,259:259:99:6944,497,0:53:99:1.000 chr1 47280884 rs4646491 C T 6162.17 PASS DP=233;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4428;MQ=51;MQ0=0;QD=26.45;SB=-3909.94;TI=NM_001099772,NM_000779;GI=CYP4B1,CYP4B1;FC=Missense_R341C,Missense_R340C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,231:233:99:6162,439,0:51:99:1.000 chr1 47282772 rs2297809 C T 2046.12 PASS BaseQRankSum=0.753;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7038;MQ=54;MQ0=0;MQRankSum=1.809;QD=26.57;ReadPosRankSum=0.753;SB=-1351.93;TI=NM_001099772,NM_000779;GI=CYP4B1,CYP4B1;FC=Missense_R376C,Missense_R375C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,75:77:99:2079,112,0:54:99:0.974 chr1 47395973 rs1126743 G A 4722.51 PASS DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4392;MQ=54;MQ0=0;QD=30.08;SB=-1720.28;TI=NM_000778;GI=CYP4A11;FC=Synonymous_I458I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,157:157:99:4722,349,0:54:99:1.000 chr1 47685455 rs927462 T C 4536.16 PASS DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5210;MQ=56;MQ0=0;QD=29.27;SB=-2138.57;TI=NM_003189;GI=TAL1;FC=Synonymous_K311K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4536,331,0:56:99:1.000 chr1 47685575 . T C 111.03 SB BaseQRankSum=-4.805;DP=127;Dels=0.01;FS=112.778;HRun=5;HaplotypeScore=90.9573;MQ=47;MQ0=0;MQRankSum=-1.719;QD=0.87;ReadPosRankSum=-1.687;SB=-0.01;TI=NM_003189;GI=TAL1;FC=Synonymous_G271G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,25:126:99:141,0,2531:47:99:0.207 chr1 47685581 . A C 95.18 SB BaseQRankSum=-4.243;DP=124;Dels=0.02;FS=99.102;HRun=5;HaplotypeScore=90.5234;MQ=48;MQ0=0;MQRankSum=-1.608;QD=0.77;ReadPosRankSum=-2.058;SB=-0.01;TI=NM_003189;GI=TAL1;FC=Synonymous_G269G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,25:122:99:125,0,2490:48:95:0.210 chr1 47685593 . A C 131.64 LowVariantFreq;SB BaseQRankSum=-4.604;DP=111;Dels=0.00;FS=65.257;HRun=5;HaplotypeScore=89.6481;MQ=47;MQ0=0;MQRankSum=-3.580;QD=1.19;ReadPosRankSum=-1.028;SB=-0.01;TI=NM_003189;GI=TAL1;FC=Synonymous_G265G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,21:111:99:162,0,2737:47:99:0.189 chr1 47691568 rs5773940 GCAGA G 654.16 PASS BaseQRankSum=0.288;DP=30;FS=1.449;HRun=0;HaplotypeScore=41.4435;MQ=53;MQ0=0;MQRankSum=0.199;QD=21.81;ReadPosRankSum=0.819;SB=-342.08;TI=NM_003189;GI=TAL1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,12:30:99:693,0,978:53:99:0.400 chr1 47717189 rs2758735 A G 2113.00 PASS BaseQRankSum=-0.790;DP=154;Dels=0.00;FS=1.387;HRun=2;HaplotypeScore=10.8160;MQ=56;MQ0=0;MQRankSum=0.486;QD=13.72;ReadPosRankSum=1.769;SB=-818.96;TI=NM_001048166,NM_003035;GI=STIL,STIL;FC=Synonymous_P1162P,Synonymous_P1161P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,76:154:99:2143,0,2255:56:99:0.494 chr1 47767914 rs3125630 G A 758.30 PASS BaseQRankSum=2.143;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6821;MQ=55;MQ0=0;MQRankSum=0.364;QD=11.15;ReadPosRankSum=-1.254;SB=-367.28;TI=NM_001048166,NM_003035;GI=STIL,STIL;FC=Missense_A86V,Missense_A86V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,30:68:99:788,0,1045:55:99:0.441 chr1 47799639 rs7543016 G C 589.76 PASS BaseQRankSum=0.202;DP=63;Dels=0.00;FS=2.370;HRun=1;HaplotypeScore=2.6274;MQ=56;MQ0=0;MQRankSum=2.255;QD=9.36;ReadPosRankSum=0.970;SB=-243.06;TI=NM_001136140,NM_016308;GI=CMPK1,CMPK1;FC=Missense_G8R,Missense_G8R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,26:63:99:620,0,1023:56:99:0.413 chr1 47882148 . C G 3.99 LowGQX;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.804;QD=2.00;ReadPosRankSum=0.804;SB=-0.01;TI=NM_012186;GI=FOXE3;FC=Missense_T54R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:31.78:32,0,32:60:4:0.500 chr1 47882149 . G C 9.30 LowGQX;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.736;QD=3.10;ReadPosRankSum=-0.736;SB=-31.78;TI=NM_012186;GI=FOXE3;FC=Synonymous_T54T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,2:3:31.78:39,0,32:60:9:0.667 chr1 49511424 rs3934240 A G 1624.39 PASS BaseQRankSum=-0.418;DP=119;Dels=0.00;FS=0.688;HRun=0;HaplotypeScore=3.8884;MQ=55;MQ0=0;MQRankSum=0.184;QD=13.65;ReadPosRankSum=-0.923;SB=-969.38;TI=NM_032785;GI=AGBL4;FC=Synonymous_H142H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,62:119:99:1654,0,1430:55:99:0.521 chr1 51439777 rs1043141 C T 1250.61 PASS BaseQRankSum=-1.289;DP=93;Dels=0.00;FS=0.784;HRun=0;HaplotypeScore=3.7878;MQ=53;MQ0=0;MQRankSum=1.635;QD=13.45;ReadPosRankSum=-0.473;SB=-676.54;TI=NM_001262,NM_078626;GI=CDKN2C,CDKN2C;FC=Synonymous_G114G,Synonymous_G114G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,49:93:99:1281,0,1032:53:99:0.527 chr1 53676448 rs1799821 G A 7365.81 PASS BaseQRankSum=1.591;DP=246;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6810;MQ=56;MQ0=0;MQRankSum=1.053;QD=29.94;ReadPosRankSum=-0.125;SB=-3995.82;TI=NM_000098;GI=CPT2;FC=Missense_V368I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,244:246:99:7366,494,0:56:99:0.992 chr1 53679229 rs1799822 A G 307.50 PASS BaseQRankSum=0.783;DP=30;Dels=0.00;FS=1.484;HRun=0;HaplotypeScore=2.7776;MQ=60;MQ0=0;MQRankSum=1.715;QD=10.25;ReadPosRankSum=-0.106;SB=-188.68;TI=NM_000098;GI=CPT2;FC=Missense_M647V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,12:30:99:337,0,531:60:99:0.400 chr1 53712727 rs5174 C T 3525.41 PASS DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=53;MQ0=0;QD=26.91;SB=-2150.07;TI=NM_033300,NM_017522,NM_004631,NM_001018054;GI=LRP8,LRP8,LRP8,LRP8;FC=Missense_R782Q,Missense_R689Q,Missense_R952Q,Missense_R893Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:131:99:3525,250,0:53:99:1.000 chr1 53716416 rs3737983 G A 361.69 LowGQ;LowDP DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=22.61;SB=-279.85;TI=NM_033300,NM_017522,NM_004631,NM_001018054;GI=LRP8,LRP8,LRP8,LRP8;FC=Synonymous_D704D,Synonymous_D670D,Synonymous_D874D,Synonymous_D874D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,16:16:27.09:395,27,0:55:27:1.000 chr1 53732315 rs2297660 G T 4959.76 PASS BaseQRankSum=0.585;DP=160;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.3643;MQ=55;MQ0=0;MQRankSum=-1.667;QD=31.00;ReadPosRankSum=0.693;SB=-2071.08;TI=NM_033300,NM_017522,NM_004631,NM_001018054;GI=LRP8,LRP8,LRP8,LRP8;FC=Synonymous_G249G,Synonymous_G290G,Synonymous_G419G,Synonymous_G419G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,159:160:99:4960,330,0:55:99:0.994 chr1 53742506 rs56300220 A G 1095.41 PASS DP=36;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6988;MQ=52;MQ0=0;QD=30.43;SB=-676.93;TI=NM_033300,NM_017522,NM_004631,NM_001018054;GI=LRP8,LRP8,LRP8,LRP8;FC=Silent,Silent,Synonymous_R247R,Synonymous_R247R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,36:36:84.27:1128,84,0:52:84:1.000 chr1 53792651 rs3820198 A C 1618.96 PASS BaseQRankSum=1.632;DP=132;Dels=0.00;FS=6.744;HRun=0;HaplotypeScore=14.4694;MQ=55;MQ0=0;MQRankSum=1.104;QD=12.26;ReadPosRankSum=0.030;SB=-842.57;TI=NM_033300,NM_017522,NM_004631,NM_001018054;GI=LRP8,LRP8,LRP8,LRP8;FC=Missense_D46E,Missense_D46E,Missense_D46E,Missense_D46E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,66:132:99:1649,0,1503:55:99:0.500 chr1 53793511 rs4926972 T C 115.43 LowDP BaseQRankSum=-0.689;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=0.529;QD=9.62;ReadPosRankSum=0.380;SB=-71.63;TI=NM_033300,NM_017522,NM_004631,NM_001018054;GI=LRP8,LRP8,LRP8,LRP8;FC=Missense_Q25R,Missense_Q25R,Missense_Q25R,Missense_Q25R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,7:12:99:145,0,128:53:99:0.583 chr1 55319902 rs718265 A G 1431.37 PASS BaseQRankSum=1.483;DP=118;Dels=0.00;FS=2.440;HRun=0;HaplotypeScore=8.9867;MQ=59;MQ0=0;MQRankSum=2.630;QD=12.13;ReadPosRankSum=0.514;SB=-663.94;TI=NM_014762;GI=DHCR24;FC=Synonymous_I342I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,58:118:99:1461,0,1558:59:99:0.492 chr1 55330966 rs611057 T C 862.32 PASS DP=27;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=31.94;SB=-183.67;TI=NM_014762;GI=DHCR24;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,27:27:66.22:895,66,0:57:66:1.000 chr1 55518316 rs2483205 C T 1344.71 PASS BaseQRankSum=-1.320;DP=104;Dels=0.00;FS=1.657;HRun=1;HaplotypeScore=7.3045;MQ=57;MQ0=0;MQRankSum=0.848;QD=12.93;ReadPosRankSum=-0.761;SB=-810.28;TI=NM_174936;GI=PCSK9;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,58:104:99:1375,0,1236:57:99:0.563 chr1 55523033 rs509504 A G 6102.59 PASS DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1213;MQ=56;MQ0=0;QD=30.51;SB=-3209.89;TI=NM_174936;GI=PCSK9;FC=Synonymous_Q342Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,200:200:99:6103,451,0:56:99:1.000 chr1 55524197 rs540796 A G 4643.80 PASS BaseQRankSum=1.669;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.6407;MQ=52;MQ0=0;MQRankSum=1.377;QD=27.64;ReadPosRankSum=1.669;SB=-2715.30;TI=NM_174936;GI=PCSK9;FC=Synonymous_V460V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,165:168:99:4644,343,0:52:99:0.994 chr1 55524237 rs562556 G A 6397.28 PASS DP=246;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.4599;MQ=50;MQ0=0;QD=26.01;SB=-4399.58;TI=NM_174936;GI=PCSK9;FC=Missense_V474I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,245:246:99:6397,463,0:50:99:1.000 chr1 55529187 rs505151 G A 2956.01 PASS BaseQRankSum=1.700;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5721;MQ=52;MQ0=0;MQRankSum=-0.683;QD=27.12;ReadPosRankSum=-1.160;SB=-1914.29;TI=NM_174936;GI=PCSK9;FC=Missense_G670E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,108:109:99:2989,214,0:52:99:0.991 chr1 55541174 rs487230 A G 1778.74 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=25.41;SB=-1283.94;TI=NM_015306;GI=USP24;FC=Missense_V2468A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,70:70:99:1812,129,0:52:99:1.000 chr1 55638075 rs1165222 G A 1567.24 PASS DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=26.56;SB=-1038.85;TI=NM_015306;GI=USP24;FC=Missense_T226I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1600,114,0:52:99:1.000 chr1 57340727 rs652785 C A 829.55 PASS BaseQRankSum=0.328;DP=80;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7879;MQ=50;MQ0=0;MQRankSum=-1.245;QD=10.37;ReadPosRankSum=1.669;SB=-533.60;TI=NM_000562;GI=C8A;FC=Missense_Q93K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,37:80:99:860,0,968:50:99:0.463 chr1 57378149 rs1620075 G T 1176.29 PASS BaseQRankSum=1.653;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6638;MQ=53;MQ0=0;MQRankSum=1.727;QD=9.80;ReadPosRankSum=-1.248;SB=-650.88;TI=NM_000562;GI=C8A;FC=Missense_R485L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,50:120:99:1206,0,1676:53:99:0.417 chr1 57378150 rs1620073 C T 1198.36 PASS BaseQRankSum=1.169;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7697;MQ=53;MQ0=0;MQRankSum=1.276;QD=9.99;ReadPosRankSum=-1.367;SB=-671.79;TI=NM_000562;GI=C8A;FC=Synonymous_R485R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,49:120:99:1228,0,1707:53:99:0.408 chr1 57378198 rs1754533 T C 1660.44 PASS BaseQRankSum=1.067;DP=194;Dels=0.00;FS=2.587;HRun=2;HaplotypeScore=13.1545;MQ=52;MQ0=0;MQRankSum=1.458;QD=8.56;ReadPosRankSum=-0.033;SB=-1004.94;TI=NM_000562;GI=C8A;FC=Synonymous_P501P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,75:194:99:1690,0,2611:52:99:0.389 chr1 57383315 rs1342440 G C 988.69 PASS BaseQRankSum=1.222;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=-0.565;QD=10.41;ReadPosRankSum=0.991;SB=-646.77;TI=NM_000562;GI=C8A;FC=Missense_E561Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,43:95:99:1019,0,1185:52:99:0.453 chr1 57422484 rs1013579 C T 4592.99 PASS DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;QD=26.10;SB=-3462.84;TI=NM_000066;GI=C8B;FC=Missense_G117R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,176:176:99:4593,322,0:51:99:1.000 chr1 61869783 rs2236059 G A 1971.22 PASS BaseQRankSum=2.367;DP=144;Dels=0.00;FS=1.397;HRun=0;HaplotypeScore=6.4375;MQ=56;MQ0=0;MQRankSum=1.440;QD=13.69;ReadPosRankSum=1.013;SB=-930.11;TI=NM_001145511,NM_001145512,NM_001134673,NM_005595;GI=NFIA,NFIA,NFIA,NFIA;FC=Synonymous_P353P,Synonymous_P406P,Synonymous_P361P,Synonymous_P361P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,72:144:99:2001,0,1809:56:99:0.500 chr1 61872228 rs2474380 C CT 499.70 PASS BaseQRankSum=-2.191;DP=56;FS=13.027;HRun=0;HaplotypeScore=543.9914;MQ=46;MQ0=0;MQRankSum=1.273;QD=8.92;ReadPosRankSum=0.061;SB=-135.58;TI=NM_001145511,NM_001145512,NM_001134673,NM_005595;GI=NFIA,NFIA,NFIA,NFIA;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,14:56:99:539,0,663:46:99:0.286 chr1 63063667 . C A 27.23 SB;LowDP BaseQRankSum=0.572;DP=8;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.572;QD=3.40;ReadPosRankSum=1.589;SB=-0.01;TI=NM_033407,NM_014495;GI=DOCK7,ANGPTL3;FC=Silent,Missense_Q144K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,2:8:57.21:57,0,220:60:27:0.250 chr1 63881552 rs4630153 C T 768.49 PASS BaseQRankSum=0.948;DP=45;Dels=0.00;FS=1.154;HRun=2;HaplotypeScore=1.8773;MQ=56;MQ0=0;MQRankSum=3.383;QD=17.08;ReadPosRankSum=0.620;SB=-467.57;TI=NM_013339;GI=ALG6;FC=Missense_S304F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,28:45:99:798,0,423:56:99:0.622 chr1 66058513 rs1137101 A G 2754.21 PASS DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=25.98;SB=-1995.42;TI=NM_001003680,NM_001003679,NM_002303,NM_001198688,NM_001198687,NM_001198689;GI=LEPR,LEPR,LEPR,LEPR,LEPR,LEPR;FC=Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2787,196,0:54:99:1.000 chr1 66067109 rs1805134 T C 3355.96 PASS BaseQRankSum=-0.037;DP=99;Dels=0.00;FS=4.931;HRun=0;HaplotypeScore=2.6548;MQ=60;MQ0=0;MQRankSum=-0.759;QD=33.90;ReadPosRankSum=0.137;SB=-617.46;TI=NM_001003680,NM_001003679,NM_002303,NM_001198688,NM_001198687,NM_001198689;GI=LEPR,LEPR,LEPR,LEPR,LEPR,LEPR;FC=Synonymous_S343S,Synonymous_S343S,Synonymous_S343S,Synonymous_S343S,Synonymous_S343S,Synonymous_S343S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,97:99:99:3356,211,0:60:99:0.980 chr1 66829262 rs783039 A G 1747.98 PASS DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=55;MQ0=0;QD=31.78;SB=-474.89;TI=NM_001037341,NM_002600,NM_001037340,NM_001037339;GI=PDE4B,PDE4B,PDE4B,PDE4B;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:55:99:1781,132,0:55:99:1.000 chr1 66831370 rs783036 G A 2106.37 PASS BaseQRankSum=2.211;DP=149;Dels=0.00;FS=1.324;HRun=1;HaplotypeScore=3.6812;MQ=55;MQ0=0;MQRankSum=0.235;QD=14.14;ReadPosRankSum=0.938;SB=-1165.30;TI=NM_001037341,NM_002600,NM_001037340,NM_001037339;GI=PDE4B,PDE4B,PDE4B,PDE4B;FC=Synonymous_E435E,Synonymous_E435E,Synonymous_E420E,Synonymous_E263E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,83:149:99:2136,0,1571:55:99:0.557 chr1 67633812 rs1884444 G T 683.64 PASS BaseQRankSum=-0.949;DP=48;Dels=0.00;FS=2.581;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=1.054;QD=14.24;ReadPosRankSum=2.298;SB=-473.96;TI=NM_144701;GI=IL23R;FC=Missense_Q3H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,29:48:99:714,0,385:56:99:0.604 chr1 67685387 rs7530511 T C 2582.93 PASS BaseQRankSum=-0.264;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=0.264;QD=28.08;ReadPosRankSum=0.000;SB=-1430.25;TI=NM_144701;GI=IL23R;FC=Missense_L310P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,91:92:99:2616,155,0:55:99:0.989 chr1 67795319 rs1495963 T C 2522.16 PASS DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=52;MQ0=0;QD=26.00;SB=-1639.51;TI=NM_001559;GI=IL12RB2;FC=Synonymous_S238S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,96:97:99:2555,181,0:52:99:1.000 chr1 67852335 rs4297265 G A 1335.18 PASS BaseQRankSum=2.047;DP=87;Dels=0.00;FS=1.850;HRun=0;HaplotypeScore=1.8939;MQ=56;MQ0=0;MQRankSum=0.567;QD=15.35;ReadPosRankSum=0.229;SB=-675.54;TI=NM_001559;GI=IL12RB2;FC=Synonymous_T643T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,52:87:99:1365,0,880:56:99:0.598 chr1 67861520 rs2229546 C A 1244.51 PASS BaseQRankSum=1.452;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6532;MQ=59;MQ0=0;MQRankSum=0.515;QD=33.64;ReadPosRankSum=-1.077;SB=-354.75;TI=NM_001559;GI=IL12RB2;FC=Synonymous_P779P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,36:37:67.08:1278,67,0:59:67:0.973 chr1 72058552 rs1413368 G A 6663.76 PASS BaseQRankSum=1.687;DP=230;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.9730;MQ=55;MQ0=0;MQRankSum=-1.386;QD=28.97;ReadPosRankSum=-1.536;SB=-3665.63;TI=NM_173808;GI=NEGR1;FC=Synonymous_T296T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,229:230:99:6664,462,0:55:99:0.996 chr1 74737274 rs45443204 C T 1568.37 PASS BaseQRankSum=1.539;DP=147;Dels=0.00;FS=2.972;HRun=3;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.392;QD=10.67;ReadPosRankSum=-0.287;SB=-958.46;TI=NM_001199327,NM_001112808,NM_015978;GI=FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,65:147:99:1598,0,1909:54:99:0.442 chr1 75622616 rs941032 C T 592.28 PASS BaseQRankSum=1.254;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8938;MQ=56;MQ0=0;MQRankSum=-0.997;QD=11.18;ReadPosRankSum=0.064;SB=-378.34;TI=NM_001001933;GI=LHX8;FC=Synonymous_H283H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,26:53:99:622,0,613:56:99:0.500 chr1 76198436 rs2275378 T C 1519.72 PASS DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8604;MQ=56;MQ0=0;QD=29.80;SB=-923.82;TI=NM_000016,NM_001127328;GI=ACADM,ACADM;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:51:99:1553,114,0:56:99:1.000 chr1 76199277 rs74090726 A C 1632.22 PASS BaseQRankSum=-0.160;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=53;MQ0=0;MQRankSum=1.152;QD=11.33;ReadPosRankSum=1.516;SB=-937.72;TI=NM_000016,NM_001127328;GI=ACADM,ACADM;FC=Synonymous_T117T,Synonymous_T121T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,69:144:99:1662,0,1820:53:99:0.479 chr1 76227022 rs1061337 A G 395.03 PASS BaseQRankSum=0.169;DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7033;MQ=56;MQ0=0;MQRankSum=0.795;QD=8.98;ReadPosRankSum=-0.771;SB=-229.71;TI=NM_000016,NM_001127328;GI=ACADM,ACADM;FC=Synonymous_V387V,Synonymous_V391V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,17:44:99:425,0,727:56:99:0.386 chr1 76344011 rs1493367 C A 2075.17 PASS BaseQRankSum=-0.447;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=2.294;QD=13.83;ReadPosRankSum=0.094;SB=-1049.67;TI=NM_002440;GI=MSH4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,73:150:99:2105,0,2078:56:99:0.487 chr1 76344711 rs5745449 A T 1608.84 PASS BaseQRankSum=1.358;DP=159;Dels=0.00;FS=0.599;HRun=1;HaplotypeScore=0.9947;MQ=56;MQ0=0;MQRankSum=-0.317;QD=10.12;ReadPosRankSum=-0.005;SB=-902.24;TI=NM_002440;GI=MSH4;FC=Synonymous_L525L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,72:159:99:1639,0,2208:56:99:0.453 chr1 76346920 rs5745466 C CAT 6941.79 PASS DP=126;FS=0.000;HRun=0;HaplotypeScore=39.6922;MQ=60;MQ0=0;QD=55.09;SB=-3246.32;TI=NM_002440;GI=MSH4;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:126:99:6942,379,0:60:99:1.000 chr1 85742012 rs11576939 G C 1020.24 PASS BaseQRankSum=2.602;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8634;MQ=57;MQ0=0;MQRankSum=-0.870;QD=12.29;ReadPosRankSum=-1.417;SB=-507.35;TI=NM_003921;GI=BCL10;FC=Synonymous_L8L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,40:83:99:1050,0,1210:57:99:0.482 chr1 86900332 rs17449526 T C 1563.84 PASS BaseQRankSum=0.906;DP=120;Dels=0.00;FS=2.379;HRun=0;HaplotypeScore=10.3286;MQ=55;MQ0=0;MQRankSum=0.338;QD=13.03;ReadPosRankSum=2.039;SB=-908.70;TI=NM_006536;GI=CLCA2;FC=Synonymous_N292N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,58:120:99:1594,0,1520:55:99:0.487 chr1 86900372 rs17409304 C G 1907.37 PASS BaseQRankSum=2.041;DP=138;Dels=0.00;FS=4.066;HRun=0;HaplotypeScore=9.5084;MQ=54;MQ0=0;MQRankSum=-0.430;QD=13.82;ReadPosRankSum=2.684;SB=-1142.22;TI=NM_006536;GI=CLCA2;FC=Missense_Q306E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,71:138:99:1937,0,1696:54:99:0.514 chr1 86904796 . T C 1731.58 PASS BaseQRankSum=0.978;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4816;MQ=51;MQ0=0;MQRankSum=-1.010;QD=11.10;ReadPosRankSum=1.400;SB=-1066.64;TI=NM_006536;GI=CLCA2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,74:156:99:1762,0,1926:51:99:0.474 chr1 86909703 rs3820039 T C 481.80 PASS BaseQRankSum=0.141;DP=47;Dels=0.00;FS=2.658;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=-1.550;QD=10.25;ReadPosRankSum=-0.163;SB=-143.84;TI=NM_006536;GI=CLCA2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,19:47:99:512,0,840:58:99:0.404 chr1 86939130 rs2145412 C T 3313.93 PASS DP=105;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9983;MQ=53;MQ0=0;QD=31.56;SB=-1977.06;TI=NM_001285;GI=CLCA1;FC=Missense_L65F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:3314,244,0:53:99:1.000 chr1 86952324 rs2734705 A G 1708.89 PASS BaseQRankSum=-0.948;DP=131;Dels=0.00;FS=0.656;HRun=0;HaplotypeScore=12.0383;MQ=55;MQ0=0;MQRankSum=1.427;QD=13.04;ReadPosRankSum=-1.879;SB=-981.77;TI=NM_001285;GI=CLCA1;FC=Missense_N357S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,64:131:99:1739,0,1646:55:99:0.492 chr1 86959173 rs2791494 T C 3998.09 PASS DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4938;MQ=57;MQ0=0;QD=26.83;SB=-2753.08;TI=NM_001285;GI=CLCA1;FC=Missense_M524T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,149:149:99:3998,286,0:57:99:1.000 chr1 86965419 rs1882753 T C 1818.83 PASS BaseQRankSum=0.620;DP=131;Dels=0.00;FS=2.427;HRun=1;HaplotypeScore=5.6542;MQ=56;MQ0=0;MQRankSum=1.223;QD=13.88;ReadPosRankSum=0.937;SB=-588.95;TI=NM_001285;GI=CLCA1;FC=Synonymous_T812T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,63:131:99:1849,0,1816:56:99:0.481 chr1 92147961 rs78713815 C T 207.21 SB BaseQRankSum=-2.853;DP=52;Dels=0.08;FS=51.317;HRun=21;HaplotypeScore=73.1064;MQ=42;MQ0=0;MQRankSum=-3.569;QD=3.98;ReadPosRankSum=-3.187;SB=-0.01;TI=NM_003243,NR_036634,NM_001195683,NM_001195684;GI=TGFBR3,TGFBR3,TGFBR3,TGFBR3;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,14:48:99:237,0,915:42:99:0.304 chr1 92148013 rs1804506 C T 1113.40 PASS BaseQRankSum=2.299;DP=103;Dels=0.00;FS=1.633;HRun=1;HaplotypeScore=17.5031;MQ=50;MQ0=0;MQRankSum=-0.255;QD=10.81;ReadPosRankSum=-2.385;SB=-654.01;TI=NM_003243,NR_036634,NM_001195683,NM_001195684;GI=TGFBR3,TGFBR3,TGFBR3,TGFBR3;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,46:103:99:1143,0,1524:50:99:0.447 chr1 92148227 rs902 C G 9550.91 PASS DP=303;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.9000;MQ=56;MQ0=0;QD=31.52;SB=-3434.22;TI=NM_003243,NR_036634,NM_001195683,NM_001195684;GI=TGFBR3,TGFBR3,TGFBR3,TGFBR3;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,303:303:99:9551,701,0:56:99:1.000 chr1 92174260 rs284878 A G 3687.44 PASS DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.0430;MQ=50;MQ0=0;QD=26.92;SB=-2460.04;TI=NM_003243,NR_036634,NM_001195683,NM_001195684;GI=TGFBR3,TGFBR3,TGFBR3,TGFBR3;FC=Synonymous_T749T,Silent,Synonymous_T748T,Synonymous_T748T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:3687,262,0:50:99:1.000 chr1 92185657 rs1805112 C T 1145.79 PASS BaseQRankSum=0.000;DP=111;Dels=0.00;FS=3.575;HRun=0;HaplotypeScore=7.2480;MQ=53;MQ0=0;MQRankSum=3.088;QD=10.32;ReadPosRankSum=-1.384;SB=-639.30;TI=NM_003243,NR_036634,NM_001195683,NM_001195684;GI=TGFBR3,TGFBR3,TGFBR3,TGFBR3;FC=Synonymous_P402P,Silent,Synonymous_P401P,Synonymous_P401P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,47:111:99:1176,0,1604:53:99:0.427 chr1 92262874 rs58760640 T C 4614.59 PASS DP=177;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4499;MQ=54;MQ0=0;QD=26.07;SB=-3206.72;TI=NM_003243,NR_036634,NM_001195683,NM_001195684;GI=TGFBR3,TGFBR3,TGFBR3,TGFBR3;FC=Synonymous_A72A,Silent,Synonymous_A72A,Synonymous_A72A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,177:177:99:4615,328,0:54:99:1.000 chr1 92327045 rs1805110 G A 1357.99 PASS BaseQRankSum=2.625;DP=141;Dels=0.00;FS=0.630;HRun=1;HaplotypeScore=1.8914;MQ=55;MQ0=0;MQRankSum=1.870;QD=9.63;ReadPosRankSum=-1.920;SB=-923.16;TI=NM_003243,NR_036634,NM_001195683,NM_001195684;GI=TGFBR3,TGFBR3,TGFBR3,TGFBR3;FC=Missense_S15F,Silent,Missense_S15F,Missense_S15F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,60:141:99:1388,0,1911:55:99:0.426 chr1 92327126 rs1805109 C T 1441.08 PASS BaseQRankSum=1.185;DP=131;Dels=0.00;FS=0.658;HRun=2;HaplotypeScore=4.8930;MQ=51;MQ0=0;MQRankSum=0.792;QD=11.00;ReadPosRankSum=1.093;SB=-823.63;TI=NM_003243,NR_036634,NM_001195683,NM_001195684;GI=TGFBR3,TGFBR3,TGFBR3,TGFBR3;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,60:131:99:1471,0,1799:51:99:0.458 chr1 92944314 . CAGAGAG C 913.50 R8 BaseQRankSum=-1.742;DP=54;FS=11.831;HRun=0;HaplotypeScore=137.9475;MQ=47;MQ0=0;MQRankSum=-0.747;QD=16.92;ReadPosRankSum=0.207;SB=-238.49;TI=NM_001127215,NM_001127216,NM_005263;GI=GFI1,GFI1,GFI1;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,9:54:99:953,0,883:47:99:0.214 chr1 92946479 rs11164605 G A 1979.59 PASS BaseQRankSum=0.420;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5182;MQ=56;MQ0=0;MQRankSum=1.522;QD=29.99;ReadPosRankSum=1.522;SB=-1169.46;TI=NM_001127215,NM_001127216,NM_005263;GI=GFI1,GFI1,GFI1;FC=Synonymous_C155C,Synonymous_C155C,Synonymous_C155C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,65:66:99:2013,123,0:56:99:0.985 chr1 92948938 rs34631763 C T 532.94 PASS BaseQRankSum=-0.692;DP=44;Dels=0.00;FS=1.216;HRun=1;HaplotypeScore=5.3209;MQ=56;MQ0=0;MQRankSum=0.223;QD=12.11;ReadPosRankSum=0.411;SB=-239.60;TI=NM_001127215,NM_001127216,NM_005263;GI=GFI1,GFI1,GFI1;FC=Missense_S36N,Missense_S36N,Missense_S36N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,22:44:99:563,0,503:56:99:0.500 chr1 92979354 rs6603979 A G 4342.16 PASS DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=31.69;SB=-1207.10;TI=NM_005665;GI=EVI5;FC=Synonymous_G764G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:4342,322,0:57:99:1.000 chr1 93073228 rs11808092 C A 1155.37 PASS BaseQRankSum=0.482;DP=106;Dels=0.00;FS=2.512;HRun=0;HaplotypeScore=2.8729;MQ=51;MQ0=0;MQRankSum=3.118;QD=10.90;ReadPosRankSum=-0.710;SB=-803.66;TI=NM_005665;GI=EVI5;FC=Missense_Q612H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,49:106:99:1185,0,1294:51:99:0.462 chr1 93089823 rs7514716 T C 201.08 LowGQ;LowDP DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=33.51;SB=-78.21;TI=NM_005665;GI=EVI5;FC=Synonymous_Q563Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:18.06:234,18,0:56:18:1.000 chr1 93160902 rs2391199 T C 2690.75 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2804;MQ=54;MQ0=0;QD=25.38;SB=-1877.92;TI=NM_005665;GI=EVI5;FC=Missense_I336V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2724,193,0:54:99:1.000 chr1 94466659 rs1801555 A G 839.85 PASS BaseQRankSum=-0.105;DP=94;Dels=0.00;FS=4.351;HRun=0;HaplotypeScore=4.3811;MQ=55;MQ0=0;MQRankSum=0.922;QD=8.93;ReadPosRankSum=-1.684;SB=-276.20;TI=NM_000350;GI=ABCA4;FC=Synonymous_D2095D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,36:94:99:870,0,1428:55:99:0.383 chr1 94467407 rs17110761 C T 405.52 PASS BaseQRankSum=-0.562;DP=41;Dels=0.00;FS=1.219;HRun=0;HaplotypeScore=4.7874;MQ=52;MQ0=0;MQRankSum=0.876;QD=9.89;ReadPosRankSum=-0.693;SB=-227.96;TI=NM_000350;GI=ABCA4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,19:41:99:436,0,511:52:99:0.463 chr1 94467447 rs1801359 G A 569.80 PASS BaseQRankSum=-0.771;DP=59;Dels=0.00;FS=2.225;HRun=1;HaplotypeScore=1.8914;MQ=49;MQ0=0;MQRankSum=1.473;QD=9.66;ReadPosRankSum=0.634;SB=-301.18;TI=NM_000350;GI=ABCA4;FC=Synonymous_I2083I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,26:59:99:600,0,776:49:99:0.441 chr1 94471075 rs1762114 A G 677.26 PASS BaseQRankSum=-0.458;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5630;MQ=55;MQ0=0;MQRankSum=1.352;QD=9.03;ReadPosRankSum=-0.745;SB=-374.57;TI=NM_000350;GI=ABCA4;FC=Synonymous_I2023I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,27:75:99:707,0,1116:55:99:0.360 chr1 94544135 rs4147887 A AC 640.73 PASS BaseQRankSum=-1.734;DP=25;FS=0.000;HRun=6;HaplotypeScore=200.9522;MQ=46;MQ0=0;MQRankSum=1.103;QD=25.63;ReadPosRankSum=-0.946;SB=-308.72;TI=NM_000350;GI=ABCA4;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,19:25:60.92:683,61,0:46:61:0.792 chr1 94544233 rs4147831 G A 1477.92 PASS BaseQRankSum=3.560;DP=114;Dels=0.00;FS=2.509;HRun=0;HaplotypeScore=2.7616;MQ=50;MQ0=0;MQRankSum=2.272;QD=12.96;ReadPosRankSum=2.828;SB=-1006.43;TI=NM_000350;GI=ABCA4;FC=Synonymous_H423H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,65:114:99:1508,0,1032:50:99:0.570 chr1 94578548 rs4847281 T C 2232.76 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.90;SB=-837.32;TI=NM_000350;GI=ABCA4;FC=Synonymous_P47P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,70:70:99:2266,166,0:56:99:1.000 chr1 94930345 rs16946 G A 3808.82 PASS DP=130;Dels=0.01;FS=0.000;HRun=5;HaplotypeScore=13.7903;MQ=55;MQ0=0;QD=29.30;SB=-2467.96;TI=NM_001122674,NM_002858;GI=ABCD3,ABCD3;FC=Synonymous_K54K,Synonymous_K54K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3809,274,0:55:99:1.000 chr1 95001600 rs698946 A C 5145.85 PASS DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4649;MQ=54;MQ0=0;QD=29.40;SB=-2609.02;TI=NM_001993,NM_001178096;GI=F3,F3;FC=Synonymous_P111P,Synonymous_P111P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,175:175:99:5146,370,0:54:99:1.000 chr1 97770920 rs1801160 C T 1297.50 PASS BaseQRankSum=2.085;DP=97;Dels=0.00;FS=2.691;HRun=0;HaplotypeScore=5.7869;MQ=50;MQ0=0;MQRankSum=-0.997;QD=13.38;ReadPosRankSum=-0.172;SB=-926.60;TI=NM_000110;GI=DPYD;FC=Missense_V732I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,56:97:99:1327,0,867:50:99:0.577 chr1 98348885 rs1801265 G A 3043.24 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=52;MQ0=0;QD=26.46;SB=-2278.96;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Missense_R29C,Missense_R29C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3076,217,0:52:99:1.000 chr1 100316589 rs2307130 A G 1720.48 PASS DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=27.75;SB=-1169.10;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646;GI=AGL,AGL,AGL,AGL,AGL;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,62:62:99:1753,126,0:57:99:1.000 chr1 100336361 rs2230306 C T 2135.34 PASS DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=28.10;SB=-1191.22;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645;GI=AGL,AGL,AGL,AGL,AGL,AGL;FC=Synonymous_L298L,Synonymous_L298L,Synonymous_L298L,Synonymous_L298L,Synonymous_L282L,Synonymous_L281L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2168,157,0:56:99:1.000 chr1 100346741 rs3736296 T C 2602.54 PASS DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=29.91;SB=-1079.60;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645;GI=AGL,AGL,AGL,AGL,AGL,AGL;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:87:99:2636,193,0:56:99:1.000 chr1 100353675 rs555929 G A 1347.35 PASS DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=55;MQ0=0;QD=28.07;SB=-684.54;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645;GI=AGL,AGL,AGL,AGL,AGL,AGL;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:99:1380,99,0:55:99:1.000 chr1 100671866 rs34229137 T A 1240.05 PASS BaseQRankSum=1.473;DP=68;Dels=0.03;FS=1.080;HRun=13;HaplotypeScore=36.4016;MQ=53;MQ0=0;MQRankSum=0.716;QD=18.24;ReadPosRankSum=-2.272;SB=-500.47;TI=NM_001918;GI=DBT;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,45:66:99:1270,0,484:53:99:0.682 chr1 100672060 rs12021720 T C 2281.08 PASS DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=51;MQ0=0;QD=29.24;SB=-1210.91;TI=NM_001918;GI=DBT;FC=Missense_S384G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2314,172,0:51:99:1.000 chr1 101203698 rs3176878 C T 1742.38 PASS BaseQRankSum=-1.525;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7616;MQ=56;MQ0=0;MQRankSum=3.685;QD=12.45;ReadPosRankSum=-1.425;SB=-988.50;TI=NM_080682,NM_001078,NM_001199834;GI=VCAM1,VCAM1,VCAM1;FC=Synonymous_D601D,Synonymous_D693D,Synonymous_D631D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,71:140:99:1772,0,1704:56:99:0.507 chr1 101203827 rs3176879 G A 4162.57 PASS DP=139;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7776;MQ=55;MQ0=0;QD=29.95;SB=-1818.44;TI=NM_080682,NM_001078,NM_001199834;GI=VCAM1,VCAM1,VCAM1;FC=Synonymous_K644K,Synonymous_K736K,Synonymous_K674K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,139:139:99:4163,301,0:55:99:1.000 chr1 103352451 rs2229783 A G 1297.12 PASS BaseQRankSum=1.675;DP=87;Dels=0.00;FS=11.028;HRun=0;HaplotypeScore=1.7608;MQ=55;MQ0=0;MQRankSum=-1.883;QD=14.91;ReadPosRankSum=-1.048;SB=-904.86;TI=NM_001190709,NM_080629,NM_001854,NM_080630;GI=COL11A1,COL11A1,COL11A1,COL11A1;FC=Synonymous_I1551I,Synonymous_I1602I,Synonymous_I1590I,Synonymous_I1474I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,53:87:99:1327,0,833:55:99:0.609 chr1 103354138 rs1676486 A G 1367.47 PASS BaseQRankSum=1.586;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7876;MQ=56;MQ0=0;MQRankSum=0.708;QD=13.02;ReadPosRankSum=-0.138;SB=-509.65;TI=NM_001190709,NM_080629,NM_001854,NM_080630;GI=COL11A1,COL11A1,COL11A1,COL11A1;FC=Missense_S1496P,Missense_S1547P,Missense_S1535P,Missense_S1419P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,52:105:99:1397,0,1447:56:99:0.495 chr1 103354428 rs1763347 A G 1794.58 PASS BaseQRankSum=0.841;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.525;QD=12.46;ReadPosRankSum=-1.877;SB=-1003.57;TI=NM_001190709,NM_080629,NM_001854,NM_080630;GI=COL11A1,COL11A1,COL11A1,COL11A1;FC=Synonymous_G1465G,Synonymous_G1516G,Synonymous_G1504G,Synonymous_G1388G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,74:144:99:1825,0,1737:55:99:0.514 chr1 103379918 rs3753841 G A 667.59 PASS BaseQRankSum=1.540;DP=58;Dels=0.00;FS=1.012;HRun=1;HaplotypeScore=3.8884;MQ=54;MQ0=0;MQRankSum=0.886;QD=11.51;ReadPosRankSum=-0.342;SB=-464.04;TI=NM_001190709,NM_080629,NM_001854,NM_080630;GI=COL11A1,COL11A1,COL11A1,COL11A1;FC=Missense_P1284L,Missense_P1335L,Missense_P1323L,Missense_P1207L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,29:58:99:698,0,774:54:99:0.500 chr1 103468767 rs12136577 A T 1449.97 PASS BaseQRankSum=3.308;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7868;MQ=56;MQ0=0;MQRankSum=-0.277;QD=10.98;ReadPosRankSum=2.322;SB=-774.48;TI=NM_001190709,NM_080629,NM_001854,NM_080630;GI=COL11A1,COL11A1,COL11A1,COL11A1;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,58:132:99:1480,0,1988:56:99:0.439 chr1 103471456 . CCATCAT C,CCAT 3647.03 LowVariantFreq;R8 BaseQRankSum=2.197;DP=102;FS=0.000;HaplotypeScore=49.1539;MQ=56;MQ0=0;MQRankSum=1.849;QD=35.76;ReadPosRankSum=-1.502;SB=-1509.67;TI=NM_001190709,NM_080629,NM_001854,NM_080630;GI=COL11A1,COL11A1,COL11A1,COL11A1;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:23,5,0:102:56.83:3647,3229,3598,190,0,57:56:57:0.179 chr1 103496805 rs36076089;rs71705254 GA G 749.06 R8 BaseQRankSum=0.041;DP=47;FS=1.526;HRun=13;HaplotypeScore=111.5202;MQ=54;MQ0=0;MQRankSum=1.149;QD=15.94;ReadPosRankSum=0.176;SB=-244.10;TI=NM_001190709,NM_080629,NM_001854,NM_080630;GI=COL11A1,COL11A1,COL11A1,COL11A1;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,31:47:88.11:788,0,88:54:88:0.689 chr1 103544434 rs12136865 A G 1357.66 PASS BaseQRankSum=2.955;DP=86;Dels=0.00;FS=0.838;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.667;QD=15.79;ReadPosRankSum=-1.691;SB=-741.75;TI=NM_001190709,NM_080629,NM_001854,NM_080630;GI=COL11A1,COL11A1,COL11A1,COL11A1;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,52:86:99:1388,0,959:57:99:0.605 chr1 107979396 rs480392 A C 2040.68 PASS DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=53;MQ0=0;QD=26.16;SB=-1449.32;TI=NM_001113226,NM_001113228,NM_014917;GI=NTNG1,NTNG1,NTNG1;FC=Synonymous_G455G,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2074,147,0:53:99:1.000 chr1 109461341 rs35089879 C T 2104.71 PASS BaseQRankSum=2.120;DP=155;Dels=0.00;FS=2.869;HRun=0;HaplotypeScore=11.2261;MQ=56;MQ0=0;MQRankSum=0.571;QD=13.58;ReadPosRankSum=0.950;SB=-1214.40;TI=NM_013296;GI=GPSM2;FC=Missense_T457M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,77:155:99:2135,0,1904:56:99:0.497 chr1 109465165 rs35029887 ACTT A 4896.78 PASS BaseQRankSum=-0.527;DP=216;FS=0.505;HRun=0;HaplotypeScore=83.9672;MQ=55;MQ0=0;MQRankSum=1.864;QD=22.67;ReadPosRankSum=-1.758;SB=-2421.04;TI=NM_013296;GI=GPSM2;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,95:216:99:4897,0,6201:55:99:0.446 chr1 109884775 rs2228604 T G 1439.96 PASS DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=30.64;SB=-922.26;TI=NM_002959;GI=SORT1;FC=Synonymous_T323T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:99:1473,108,0:54:99:1.000 chr1 109897103 rs11142 A G 3341.64 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=54;MQ0=0;QD=29.06;SB=-2031.33;TI=NM_002959;GI=SORT1;FC=Synonymous_F198F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3342,241,0:54:99:1.000 chr1 110148974 rs1799875 C T 2716.01 PASS DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=28.00;SB=-1564.82;TI=NM_005272;GI=GNAT2;FC=Synonymous_T182T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:2749,196,0:52:99:1.000 chr1 110201699 rs506008 T C 4193.37 PASS BaseQRankSum=1.054;DP=150;Dels=0.00;FS=3.379;HRun=2;HaplotypeScore=5.4425;MQ=53;MQ0=12;MQRankSum=0.025;QD=27.96;ReadPosRankSum=-0.477;SB=-2375.68;TI=NM_000850,NR_024538,NM_147148;GI=GSTM4,GSTM4,GSTM4;FC=Synonymous_F178F,Silent,Synonymous_F178F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,149:150:99:4193,281,0:53:99:0.993 chr1 110233138 rs74837985 G C 3855.41 PASS DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1418;MQ=49;MQ0=8;QD=26.05;SB=-2433.55;TI=NM_000561,NM_146421;GI=GSTM1,GSTM1;FC=Missense_K173N,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,147:148:99:3855,283,0:49:99:1.000 chr1 110466338 rs333970 C A 4568.61 PASS BaseQRankSum=-1.252;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6812;MQ=55;MQ0=0;MQRankSum=1.741;QD=29.29;ReadPosRankSum=0.606;SB=-2501.22;TI=NM_172210,NM_172212,NM_000757,NM_172211;GI=CSF1,CSF1,CSF1,CSF1;FC=Silent,Synonymous_T365T,Synonymous_T365T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,154:156:99:4569,295,0:55:99:0.987 chr1 110466709 rs333971 T C 5588.38 PASS DP=197;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=22.2185;MQ=56;MQ0=0;QD=28.37;SB=-3429.63;TI=NM_172210,NM_172212,NM_000757,NM_172211;GI=CSF1,CSF1,CSF1,CSF1;FC=Missense_F373S,Missense_F489S,Missense_F489S,Missense_F191S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,194:196:99:5588,406,0:56:99:1.000 chr1 110882048 . C A 11.01 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=11.01;SB=-0.01;TI=NM_022768;GI=RBM15;FC=Missense_D7E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:41,3,0:60:3:1.000 chr1 110884030 . C T 354.66 PASS BaseQRankSum=0.767;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9945;MQ=59;MQ0=0;MQRankSum=0.094;QD=10.75;ReadPosRankSum=0.430;SB=-189.00;TI=NM_022768;GI=RBM15;FC=Missense_A668V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,12:33:99:385,0,597:59:99:0.364 chr1 111783982 rs13721 C T 653.76 PASS BaseQRankSum=1.311;DP=60;Dels=0.00;FS=0.960;HRun=0;HaplotypeScore=3.5489;MQ=54;MQ0=0;MQRankSum=0.763;QD=10.90;ReadPosRankSum=-0.022;SB=-425.25;TI=NM_001025197,NM_004000,NM_001025199;GI=CHI3L2,CHI3L2,CHI3L2;FC=Missense_R308W,Missense_R318W,Missense_R239W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,28:60:99:684,0,732:54:99:0.467 chr1 111783996 rs2494007 A G 2001.06 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=53;MQ0=0;QD=27.41;SB=-1389.29;TI=NM_001025197,NM_004000,NM_001025199;GI=CHI3L2,CHI3L2,CHI3L2;FC=Synonymous_Q312Q,Synonymous_Q322Q,Synonymous_Q243Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2034,144,0:53:99:1.000 chr1 111854889 rs41282492 A G 1617.75 PASS BaseQRankSum=0.393;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0305;MQ=54;MQ0=0;MQRankSum=2.113;QD=9.99;ReadPosRankSum=-1.134;SB=-997.27;TI=NM_021797,NM_201653;GI=CHIA,CHIA;FC=Silent,Missense_N45D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,72:162:99:1648,0,2076:54:99:0.447 chr1 111854895 rs41282494 G A 1572.03 PASS BaseQRankSum=1.282;DP=157;Dels=0.00;FS=2.910;HRun=1;HaplotypeScore=9.0036;MQ=54;MQ0=0;MQRankSum=3.328;QD=10.01;ReadPosRankSum=-1.123;SB=-906.81;TI=NM_021797,NM_201653;GI=CHIA,CHIA;FC=Silent,Missense_D47N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,71:157:99:1602,0,1954:54:99:0.452 chr1 111854938 rs41282496 G T 1286.85 PASS BaseQRankSum=-0.216;DP=135;Dels=0.00;FS=2.255;HRun=0;HaplotypeScore=4.4704;MQ=56;MQ0=0;MQRankSum=2.105;QD=9.53;ReadPosRankSum=0.363;SB=-729.60;TI=NM_021797,NM_201653;GI=CHIA,CHIA;FC=Silent,Missense_R61M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,57:135:99:1317,0,2245:56:99:0.422 chr1 111857154 rs2786152 T C 1099.48 PASS BaseQRankSum=0.578;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6535;MQ=50;MQ0=0;MQRankSum=0.103;QD=13.25;ReadPosRankSum=-0.587;SB=-750.87;TI=NM_021797,NM_201653;GI=CHIA,CHIA;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,45:83:99:1129,0,908:50:99:0.549 chr1 111861822 rs17027410 G A 1419.27 PASS BaseQRankSum=1.681;DP=123;Dels=0.00;FS=2.340;HRun=0;HaplotypeScore=1.8835;MQ=50;MQ0=0;MQRankSum=1.570;QD=11.54;ReadPosRankSum=-1.352;SB=-829.27;TI=NM_021797,NM_201653;GI=CHIA,CHIA;FC=Synonymous_V224V,Synonymous_V332V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,57:123:99:1449,0,1620:50:99:0.463 chr1 111861841 rs2275253 A G 1004.22 PASS BaseQRankSum=1.978;DP=113;Dels=0.00;FS=1.589;HRun=0;HaplotypeScore=7.4398;MQ=51;MQ0=0;MQRankSum=1.215;QD=8.89;ReadPosRankSum=0.949;SB=-503.63;TI=NM_021797,NM_201653;GI=CHIA,CHIA;FC=Missense_I231V,Missense_I339V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,43:113:99:1034,0,1693:51:99:0.381 chr1 111861974 rs2275254 T C 1041.94 PASS BaseQRankSum=0.257;DP=100;Dels=0.00;FS=0.831;HRun=0;HaplotypeScore=2.7880;MQ=56;MQ0=0;MQRankSum=0.686;QD=10.42;ReadPosRankSum=-1.974;SB=-367.52;TI=NM_021797,NM_201653;GI=CHIA,CHIA;FC=Missense_F246S,Missense_F354S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,40:100:99:1072,0,1462:56:99:0.400 chr1 111862078 rs12094378 C T 1609.54 PASS BaseQRankSum=0.888;DP=103;Dels=0.00;FS=5.386;HRun=1;HaplotypeScore=3.7560;MQ=51;MQ0=0;MQRankSum=-1.104;QD=15.63;ReadPosRankSum=1.535;SB=-1035.03;TI=NM_021797,NM_201653;GI=CHIA,CHIA;FC=Synonymous_L281L,Synonymous_L389L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,68:103:99:1640,0,846:51:99:0.660 chr1 111862952 rs2256721 T G 1675.56 PASS BaseQRankSum=1.938;DP=148;Dels=0.00;FS=2.915;HRun=1;HaplotypeScore=16.7576;MQ=57;MQ0=0;MQRankSum=-0.088;QD=11.32;ReadPosRankSum=0.196;SB=-1027.16;TI=NM_021797,NM_201653;GI=CHIA,CHIA;FC=Missense_V324G,Missense_V432G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,71:148:99:1706,0,1948:57:99:0.480 chr1 112042632 rs2229155 A G 4794.59 PASS BaseQRankSum=-1.732;DP=174;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.9241;MQ=55;MQ0=0;MQRankSum=0.458;QD=27.56;ReadPosRankSum=-1.493;SB=-3076.61;TI=NM_020683,NM_001081976,NM_000677;GI=ADORA3,ADORA3,ADORA3;FC=Silent,Silent,Synonymous_A299A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,173:174:99:4795,312,0:55:99:0.994 chr1 112042787 rs35511654 T G 7506.97 PASS BaseQRankSum=1.235;DP=238;Dels=0.00;FS=4.486;HRun=0;HaplotypeScore=6.5746;MQ=56;MQ0=0;MQRankSum=-1.264;QD=31.54;ReadPosRankSum=0.490;SB=-3222.30;TI=NM_020683,NM_001081976,NM_000677;GI=ADORA3,ADORA3,ADORA3;FC=Silent,Silent,Missense_I248L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,236:238:99:7507,522,0:56:99:0.996 chr1 112298582 rs197392 A G 1981.67 PASS BaseQRankSum=1.894;DP=173;Dels=0.00;FS=6.181;HRun=1;HaplotypeScore=11.8616;MQ=58;MQ0=0;MQRankSum=1.217;QD=11.45;ReadPosRankSum=1.473;SB=-901.80;TI=NM_007204;GI=DDX20;FC=Synonymous_A12A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,79:173:99:2012,0,2563:58:99:0.457 chr1 112298829 rs197393 T C 114.82 SB;LowDP BaseQRankSum=-1.000;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=56;MQ0=0;MQRankSum=-0.529;QD=9.57;ReadPosRankSum=0.831;SB=-0.01;TI=NM_007204;GI=DDX20;FC=Synonymous_L95L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,7:12:99:145,0,142:56:99:0.583 chr1 112305406 . TAA T 197.43 R8 BaseQRankSum=-1.047;DP=46;FS=1.243;HRun=16;HaplotypeScore=226.1895;MQ=54;MQ0=0;MQRankSum=0.720;QD=4.29;ReadPosRankSum=-1.509;SB=-107.39;TI=NM_007204;GI=DDX20;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,8:46:99:236,0,542:54:99:0.242 chr1 112308953 rs197412 T C 1727.57 PASS BaseQRankSum=2.995;DP=137;Dels=0.00;FS=6.360;HRun=0;HaplotypeScore=8.2347;MQ=58;MQ0=0;MQRankSum=1.445;QD=12.61;ReadPosRankSum=0.775;SB=-851.02;TI=NM_007204;GI=DDX20;FC=Missense_I636T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,63:137:99:1758,0,1905:58:99:0.460 chr1 112308972 rs197413 G A 2011.34 PASS BaseQRankSum=2.274;DP=167;Dels=0.00;FS=5.607;HRun=0;HaplotypeScore=11.1284;MQ=56;MQ0=0;MQRankSum=3.096;QD=12.04;ReadPosRankSum=0.471;SB=-1100.90;TI=NM_007204;GI=DDX20;FC=Synonymous_V642V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,76:167:99:2041,0,2328:56:99:0.455 chr1 112309123 rs197414 C A 2488.93 PASS BaseQRankSum=0.875;DP=155;Dels=0.00;FS=5.033;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=0.714;QD=16.06;ReadPosRankSum=-1.470;SB=-1210.83;TI=NM_007204;GI=DDX20;FC=Missense_R693S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,93:155:99:2519,0,1705:58:99:0.600 chr1 112309331 rs85276 T C 3089.81 PASS BaseQRankSum=1.901;DP=225;Dels=0.00;FS=1.042;HRun=0;HaplotypeScore=9.1032;MQ=53;MQ0=0;MQRankSum=3.496;QD=13.73;ReadPosRankSum=0.714;SB=-1623.76;TI=NM_007204;GI=DDX20;FC=Missense_I762T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,117:225:99:3120,0,2753:53:99:0.520 chr1 114372332 rs67670581 TA T 1028.93 R8 BaseQRankSum=1.673;DP=126;FS=1.475;HRun=12;HaplotypeScore=368.4004;MQ=53;MQ0=0;MQRankSum=0.902;QD=8.17;ReadPosRankSum=-1.070;SB=-449.40;TI=NM_015967,NM_001193431,NM_012411;GI=PTPN22,PTPN22,PTPN22;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,48:126:99:1068,0,1155:53:99:0.436 chr1 114377568 rs2476601 A G 2766.15 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=52;MQ0=0;QD=26.10;SB=-2037.56;TI=NM_015967,NM_001193431,NM_012411;GI=PTPN22,PTPN22,PTPN22;FC=Missense_W620R,Missense_W620R,Missense_W565R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2799,196,0:52:99:1.000 chr1 115220523 . C T 763.36 PASS BaseQRankSum=1.995;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=-1.051;QD=13.63;ReadPosRankSum=1.167;SB=-401.71;TI=NM_000036,NM_001172626;GI=AMPD1,AMPD1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,32:56:99:793,0,551:52:99:0.571 chr1 115280193 . CA C 136.52 R8 BaseQRankSum=0.372;DP=71;FS=0.962;HRun=13;HaplotypeScore=93.8302;MQ=55;MQ0=0;MQRankSum=0.599;QD=1.92;ReadPosRankSum=-1.218;SB=-70.13;TI=NM_007158,NM_001007553,NM_001130523;GI=CSDE1,CSDE1,CSDE1;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,12:71:99:176,0,956:55:99:0.211 chr1 115576023 rs10776792 A G 2178.29 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8938;MQ=54;MQ0=0;QD=25.33;SB=-1655.33;TI=NM_000549;GI=TSHB;FC=Missense_T14A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2211,157,0:54:99:1.000 chr1 115829313 rs6330 G A 4896.50 PASS DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=29.15;SB=-2792.15;TI=NM_002506;GI=NGF;FC=Missense_A35V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,168:168:99:4896,352,0:55:99:1.000 chr1 116226663 . G A 1009.09 PASS BaseQRankSum=0.052;DP=81;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=48;MQ0=0;MQRankSum=1.313;QD=12.46;ReadPosRankSum=2.280;SB=-742.40;TI=NM_138959,NM_001172411,NM_001172412;GI=VANGL1,VANGL1,VANGL1;FC=Missense_E349K,Missense_E347K,Missense_E349K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,44:81:99:1039,0,771:48:99:0.543 chr1 116243877 rs7413162 G A 957.40 PASS BaseQRankSum=-0.569;DP=75;Dels=0.03;FS=0.000;HRun=0;HaplotypeScore=5.7990;MQ=58;MQ0=0;MQRankSum=-0.547;QD=12.77;ReadPosRankSum=-2.247;SB=-415.29;TI=NM_001232;GI=CASQ2;FC=Synonymous_D395D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,38:73:99:987,0,981:58:99:0.521 chr1 116283343 rs9428083 A G 2691.38 PASS DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6820;MQ=52;MQ0=0;QD=28.04;SB=-1470.29;TI=NM_001232;GI=CASQ2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:96:99:2724,196,0:52:99:1.000 chr1 116310937 rs10801999 C T 1137.23 PASS BaseQRankSum=0.497;DP=91;Dels=0.00;FS=2.003;HRun=0;HaplotypeScore=7.3590;MQ=58;MQ0=0;MQRankSum=0.219;QD=12.50;ReadPosRankSum=-0.656;SB=-395.81;TI=NM_001232;GI=CASQ2;FC=Missense_V76M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,43:91:99:1167,0,1445:58:99:0.473 chr1 116310967 rs4074536 T C 3743.57 PASS BaseQRankSum=0.028;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5695;MQ=58;MQ0=0;MQRankSum=-1.425;QD=29.95;ReadPosRankSum=-1.732;SB=-1653.31;TI=NM_001232;GI=CASQ2;FC=Missense_T66A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,123:125:99:3744,239,0:58:99:0.992 chr1 118565953 rs10923472 G A 2069.66 PASS BaseQRankSum=-1.385;DP=169;Dels=0.00;FS=1.252;HRun=0;HaplotypeScore=2.9994;MQ=55;MQ0=0;MQRankSum=2.294;QD=12.25;ReadPosRankSum=-2.014;SB=-1073.98;TI=NM_206996;GI=SPAG17;FC=Missense_P1348L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,83:169:99:2100,0,2205:55:99:0.491 chr1 118583408 rs10923477 G A 1099.92 PASS BaseQRankSum=0.176;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=55;MQ0=0;MQRankSum=2.785;QD=9.65;ReadPosRankSum=0.706;SB=-616.69;TI=NM_206996;GI=SPAG17;FC=Synonymous_Y1037Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,44:114:99:1130,0,1838:55:99:0.393 chr1 118644430 rs10754367 A G 2711.17 PASS BaseQRankSum=-1.687;DP=208;Dels=0.00;FS=1.713;HRun=0;HaplotypeScore=7.3608;MQ=55;MQ0=0;MQRankSum=3.398;QD=13.03;ReadPosRankSum=1.802;SB=-1510.39;TI=NM_206996;GI=SPAG17;FC=Synonymous_N189N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,107:208:99:2741,0,2545:55:99:0.514 chr1 118693217 rs1935992 T C 958.06 PASS BaseQRankSum=1.724;DP=91;Dels=0.00;FS=0.805;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=0.728;QD=10.53;ReadPosRankSum=0.394;SB=-609.22;TI=NM_206996;GI=SPAG17;FC=Synonymous_S88S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,42:91:99:988,0,1244:56:99:0.462 chr1 120057158 rs6203 C T 642.19 PASS BaseQRankSum=1.000;DP=72;Dels=0.00;FS=8.351;HRun=1;HaplotypeScore=2.7581;MQ=54;MQ0=0;MQRankSum=1.628;QD=8.92;ReadPosRankSum=0.861;SB=-260.06;TI=NM_000862;GI=HSD3B1;FC=Synonymous_L338L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,27:72:99:672,0,1029:54:99:0.375 chr1 120057246 rs1047303;rs45609334 C A 980.03 PASS DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=31.61;SB=-241.27;TI=NM_000862;GI=HSD3B1;FC=Missense_T367N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,31:31:75.24:1013,75,0:57:75:1.000 chr1 120285546 rs543703 G A 4083.54 PASS DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4998;MQ=52;MQ0=0;QD=26.69;SB=-2677.50;TI=NM_006623;GI=PHGDH;FC=Synonymous_T442T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,153:153:99:4084,292,0:52:99:1.000 chr1 120611964 rs11810554 G C 86.07 LowVariantFreq BaseQRankSum=0.475;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.2944;MQ=49;MQ0=2;MQRankSum=-3.529;QD=1.46;ReadPosRankSum=1.931;SB=-23.17;TI=NM_024408,NM_001200001;GI=NOTCH2,NOTCH2;FC=Missense_C19W,Missense_C19W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,11:59:99:116,0,1118:49:86:0.186 chr1 120612006 rs77243975 G A 47.11 LowVariantFreq;SB BaseQRankSum=0.056;DP=56;Dels=0.00;FS=6.760;HRun=0;HaplotypeScore=6.6578;MQ=51;MQ0=2;MQRankSum=-3.864;QD=0.84;ReadPosRankSum=-2.015;SB=-0.01;TI=NM_024408,NM_001200001;GI=NOTCH2,NOTCH2;FC=Synonymous_R5R,Synonymous_R5R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,10:56:77.10:77,0,1105:51:47:0.179 chr1 146672906 rs894469 C T 7208.05 PASS DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4702;MQ=55;MQ0=0;QD=31.75;SB=-3852.17;TI=NM_001144829,NM_001144830,NM_001461;GI=FMO5,FMO5,FMO5;FC=Synonymous_P337P,Silent,Synonymous_P337P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,227:227:99:7208,530,0:55:99:1.000 chr1 146714392 rs1890042 G T 44.02 LowGQX;LowGQ;LowDP DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=22.01;SB=-34.01;TI=NM_004284;GI=CHD1L;FC=Synonymous_A13A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,2:2:6.02:75,6,0:60:6:1.000 chr1 146736092 rs4950315 C T 1751.27 PASS BaseQRankSum=2.386;DP=147;Dels=0.00;FS=2.095;HRun=2;HaplotypeScore=2.7840;MQ=56;MQ0=0;MQRankSum=0.979;QD=11.91;ReadPosRankSum=0.665;SB=-1065.22;TI=NM_004284;GI=CHD1L;FC=Synonymous_V196V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,71:147:99:1781,0,1927:56:99:0.483 chr1 146740502 rs17356233 C G 1545.40 PASS BaseQRankSum=1.754;DP=142;Dels=0.00;FS=4.024;HRun=0;HaplotypeScore=5.8929;MQ=53;MQ0=0;MQRankSum=0.133;QD=10.88;ReadPosRankSum=1.068;SB=-1109.58;TI=NM_004284;GI=CHD1L;FC=Missense_H350Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,68:142:99:1575,0,1735:53:99:0.479 chr1 146751782 rs7547279 A C 6455.86 PASS BaseQRankSum=1.541;DP=218;Dels=0.00;FS=3.072;HRun=1;HaplotypeScore=9.9114;MQ=54;MQ0=0;MQRankSum=-0.487;QD=29.61;ReadPosRankSum=1.413;SB=-4108.75;TI=NM_004284;GI=CHD1L;FC=Synonymous_I541I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,216:218:99:6456,443,0:54:99:0.995 chr1 146759306 rs6703892 T C 505.42 PASS BaseQRankSum=0.461;DP=34;Dels=0.00;FS=3.155;HRun=1;HaplotypeScore=0.9894;MQ=58;MQ0=0;MQRankSum=-0.319;QD=14.87;ReadPosRankSum=-0.213;SB=-264.79;TI=NM_004284;GI=CHD1L;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,21:34:99:535,0,290:58:99:0.618 chr1 146766122 rs45563244 C G 689.25 PASS BaseQRankSum=-1.494;DP=80;Dels=0.00;FS=0.852;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-0.339;QD=8.62;ReadPosRankSum=0.630;SB=-543.84;TI=NM_004284;GI=CHD1L;FC=Synonymous_A846A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,35:80:99:719,0,1148:53:99:0.438 chr1 146767149 rs4950394 G T 5478.36 PASS DP=191;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=28.68;SB=-3351.25;TI=NM_004284;GI=CHD1L;FC=Missense_A885S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,191:191:99:5478,391,0:52:99:1.000 chr1 150484004 rs11801190 G A 603.00 PASS BaseQRankSum=1.283;DP=45;Dels=0.00;FS=1.319;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=-0.829;QD=13.40;ReadPosRankSum=-0.375;SB=-164.46;TI=NM_004425,NM_022664;GI=ECM1,ECM1;FC=Synonymous_T260T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,22:45:99:633,0,607:59:99:0.489 chr1 150526044 rs41317515 G C 1482.60 PASS BaseQRankSum=-0.503;DP=166;Dels=0.00;FS=0.585;HRun=1;HaplotypeScore=9.4142;MQ=49;MQ0=0;MQRankSum=-0.506;QD=8.93;ReadPosRankSum=-2.928;SB=-1042.05;TI=NM_025008,NM_019032;GI=ADAMTSL4,ADAMTSL4;FC=Missense_A193P,Missense_A193P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,69:166:99:1513,0,2216:49:99:0.421 chr1 150526406 rs6681639 C T 1538.38 PASS BaseQRankSum=-0.048;DP=123;Dels=0.00;FS=0.690;HRun=0;HaplotypeScore=7.3053;MQ=56;MQ0=0;MQRankSum=1.445;QD=12.51;ReadPosRankSum=-0.321;SB=-903.07;TI=NM_025008,NM_019032;GI=ADAMTSL4,ADAMTSL4;FC=Synonymous_G313G,Synonymous_G313G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,64:123:99:1568,0,1575:56:99:0.520 chr1 150531008 rs10888382 T C 3728.75 PASS DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=53;MQ0=0;QD=28.04;SB=-2023.02;TI=NM_025008,NM_019032;GI=ADAMTSL4,ADAMTSL4;FC=Synonymous_N814N,Synonymous_N814N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:3729,271,0:53:99:1.000 chr1 150531050 rs10749657 G A 2230.07 PASS BaseQRankSum=1.938;DP=206;Dels=0.00;FS=2.462;HRun=0;HaplotypeScore=15.4816;MQ=52;MQ0=0;MQRankSum=1.703;QD=10.83;ReadPosRankSum=0.918;SB=-1604.21;TI=NM_025008,NM_019032;GI=ADAMTSL4,ADAMTSL4;FC=Synonymous_P828P,Synonymous_P828P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,101:206:99:2260,0,2233:52:99:0.495 chr1 150531170 rs10749658 C T 3206.21 PASS BaseQRankSum=0.733;DP=112;Dels=0.00;FS=4.576;HRun=0;HaplotypeScore=12.0014;MQ=56;MQ0=0;MQRankSum=1.514;QD=28.63;ReadPosRankSum=1.514;SB=-1420.88;TI=NM_025008,NM_019032;GI=ADAMTSL4,ADAMTSL4;FC=Synonymous_H868H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,110:112:99:3239,204,0:56:99:0.991 chr1 150771703 rs10788796 T C 1872.76 PASS DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=27.14;SB=-1363.37;TI=NM_000396;GI=CTSK;FC=Synonymous_A277A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:1906,135,0:51:99:1.000 chr1 151315287 rs2233854 G C 1365.98 PASS BaseQRankSum=0.714;DP=122;Dels=0.00;FS=6.481;HRun=0;HaplotypeScore=6.5755;MQ=55;MQ0=0;MQRankSum=2.353;QD=11.20;ReadPosRankSum=2.013;SB=-359.20;TI=NM_000449,NM_001025603;GI=RFX5,RFX5;FC=Missense_P409R,Missense_P409R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,54:122:99:1396,0,1701:55:99:0.443 chr1 151316161 rs1752386 G A 2310.42 PASS DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=55;MQ0=0;QD=28.52;SB=-1538.53;TI=NM_000449,NM_001025603;GI=RFX5,RFX5;FC=Synonymous_L251L,Synonymous_L251L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2343,169,0:55:99:1.000 chr1 151396037 rs2274534 A C 1379.02 PASS DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=37.27;SB=-563.49;TI=NM_207171,NM_015100,NM_001194937,NM_001194938,NM_145796;GI=POGZ,POGZ,POGZ,POGZ,POGZ;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,37:37:99:1412,105,0:59:99:1.000 chr1 152484129 rs2105117 G A 1910.24 PASS BaseQRankSum=-0.583;DP=148;Dels=0.00;FS=1.338;HRun=0;HaplotypeScore=8.8750;MQ=51;MQ0=0;MQRankSum=1.743;QD=12.91;ReadPosRankSum=-0.912;SB=-1109.61;TI=NM_178438;GI=LCE5A;FC=Missense_C40Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,83:148:99:1940,0,1494:51:99:0.561 chr1 152573440 . G T 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_178434;GI=LCE3C;FC=Missense_G78V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chr1 152975495 rs2075739 G A 361.88 LowDP DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=30.16;SB=-120.64;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,12:12:30.10:395,30,0:56:30:1.000 chr1 152975715 rs63405761 C T 394.17 PASS BaseQRankSum=1.620;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3371;MQ=54;MQ0=0;MQRankSum=-1.620;QD=14.60;ReadPosRankSum=3.318;SB=-223.42;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Synonymous_G73G,Synonymous_G73G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,18:27:99:424,0,154:54:99:0.667 chr1 152975739 rs17851565 T A 327.71 PASS BaseQRankSum=0.720;DP=29;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=-0.327;QD=11.30;ReadPosRankSum=-1.287;SB=-116.79;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Synonymous_G81G,Synonymous_G81G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,15:29:99:358,0,341:56:99:0.517 chr1 152975763 rs1977734 C A,T 675.35 PASS BaseQRankSum=1.333;DP=26;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-1.600;QD=25.97;ReadPosRankSum=-0.933;SB=-320.18;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Synonymous_G89G/Synonymous_G89G,Synonymous_G89G/Synonymous_G89G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:1,13,12:26:99:735,394,364,318,0,282:54:99:0.962 chr1 152975829 rs1970328 A G 584.06 LowDP DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=54;MQ0=0;QD=30.74;SB=-274.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Synonymous_E111E,Synonymous_E111E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:19:48.15:617,48,0:54:48:1.000 chr1 152975840 . T C 3.41 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=0.942;DP=16;Dels=0.00;FS=2.963;HRun=1;HaplotypeScore=3.7806;MQ=51;MQ0=0;MQRankSum=-1.883;QD=0.21;ReadPosRankSum=0.942;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Missense_I115T,Missense_I115T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,3:16:30.76:31,0,344:51:3:0.188 chr1 152975853 . C G 5.29 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=1.678;DP=14;Dels=0.00;FS=3.358;HRun=0;HaplotypeScore=3.6781;MQ=51;MQ0=0;MQRankSum=-2.270;QD=0.38;ReadPosRankSum=0.888;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Missense_D119E,Missense_D119E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,2:14:33.77:34,0,320:51:5:0.154 chr1 152975855 . A C 5.30 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=1.480;DP=13;Dels=0.00;FS=7.160;HRun=2;HaplotypeScore=3.6781;MQ=50;MQ0=0;MQRankSum=-1.875;QD=0.41;ReadPosRankSum=0.888;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Missense_Q120P,Missense_Q120P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,2:13:33.78:34,0,305:50:5:0.154 chr1 152975859 . C A 5.30 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=1.182;DP=12;Dels=0.00;FS=6.435;HRun=0;HaplotypeScore=3.5764;MQ=50;MQ0=0;MQRankSum=-2.041;QD=0.44;ReadPosRankSum=0.752;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Synonymous_G121G,Synonymous_G121G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:33.78:34,0,293:50:5:0.167 chr1 152975861 . T G 7.61 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.107;DP=12;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=3.5764;MQ=50;MQ0=0;MQRankSum=-1.826;QD=0.63;ReadPosRankSum=0.752;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Missense_F122C,Missense_F122C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:36.78:37,0,272:50:8:0.167 chr1 152975862 . C T 6.12 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.107;DP=12;Dels=0.00;FS=3.424;HRun=2;HaplotypeScore=3.5764;MQ=50;MQ0=0;MQRankSum=-0.967;QD=0.51;ReadPosRankSum=0.752;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Synonymous_F122F,Synonymous_F122F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:34.89:35,0,281:50:6:0.167 chr1 152975864 . T C 5.29 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=1.678;DP=13;Dels=0.00;FS=8.195;HRun=1;HaplotypeScore=1.7882;MQ=50;MQ0=0;MQRankSum=-1.678;QD=0.41;ReadPosRankSum=0.888;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Missense_I123T,Missense_I123T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,2:13:33.77:34,0,316:50:5:0.154 chr1 152975869 . T G 13.02 LowVariantFreq;SB;LowDP BaseQRankSum=1.061;DP=11;Dels=0.00;FS=3.332;HRun=1;HaplotypeScore=0.8941;MQ=48;MQ0=0;MQRankSum=-1.768;QD=1.18;ReadPosRankSum=0.589;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Missense_F125V,Missense_F125V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,2:11:42.79:43,0,212:48:13:0.182 chr1 152975871 . T C 10.23 LowVariantFreq;SB;LowDP BaseQRankSum=1.532;DP=11;Dels=0.00;FS=3.522;HRun=2;HaplotypeScore=0.8941;MQ=48;MQ0=0;MQRankSum=-2.003;QD=0.93;ReadPosRankSum=0.589;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Synonymous_F125F,Synonymous_F125F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,2:11:39.79:40,0,229:48:10:0.182 chr1 152975884 . G T 7.62 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=2.073;DP=13;Dels=0.00;FS=3.123;HRun=1;HaplotypeScore=0.0000;MQ=47;MQ0=0;MQRankSum=-1.875;QD=0.59;ReadPosRankSum=0.099;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Missense_A130S,Missense_A130S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,2:13:36.79:37,0,272:47:8:0.154 chr1 152975885 . C G 10.22 LowVariantFreq;SB;LowDP BaseQRankSum=1.283;DP=13;Dels=0.00;FS=3.282;HRun=1;HaplotypeScore=0.0000;MQ=47;MQ0=0;MQRankSum=-1.678;QD=0.79;ReadPosRankSum=0.099;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Missense_A130G,Missense_A130G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,2:13:39.78:40,0,254:47:10:0.154 chr1 152975886 . C T 10.24 LowVariantFreq;SB;LowDP BaseQRankSum=1.283;DP=13;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=0.0000;MQ=47;MQ0=0;MQRankSum=-1.480;QD=0.79;ReadPosRankSum=0.099;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Synonymous_A130A,Synonymous_A130A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,2:13:39.80:40,0,246:47:10:0.154 chr1 152975888 . T C 10.23 LowVariantFreq;SB;LowDP BaseQRankSum=1.396;DP=12;Dels=0.00;FS=3.090;HRun=1;HaplotypeScore=0.0000;MQ=46;MQ0=0;MQRankSum=-2.256;QD=0.85;ReadPosRankSum=-0.107;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Missense_I131T,Missense_I131T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:39.79:40,0,244:46:10:0.167 chr1 152975892 . A G 10.24 LowVariantFreq;SB;LowDP BaseQRankSum=0.967;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=46;MQ0=0;MQRankSum=-2.256;QD=0.85;ReadPosRankSum=-0.537;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Synonymous_K132K,Synonymous_K132K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:39.81:40,0,234:46:10:0.167 chr1 152975895 . T C 7.62 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=1.182;DP=12;Dels=0.00;FS=2.881;HRun=2;HaplotypeScore=0.8941;MQ=46;MQ0=0;MQRankSum=-2.256;QD=0.63;ReadPosRankSum=-1.182;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Synonymous_V133V,Synonymous_V133V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:36.78:37,0,270:46:8:0.167 chr1 152975903 . A C 10.22 LowVariantFreq;SB;LowDP BaseQRankSum=1.396;DP=12;Dels=0.00;FS=3.090;HRun=1;HaplotypeScore=2.7865;MQ=46;MQ0=0;MQRankSum=-1.182;QD=0.85;ReadPosRankSum=-2.256;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Missense_Q136P,Missense_Q136P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:39.78:40,0,251:46:10:0.167 chr1 152975907 . A C 5.31 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.822;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6806;MQ=48;MQ0=0;MQRankSum=-2.282;QD=0.38;ReadPosRankSum=-1.552;SB=-0.01;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Synonymous_G137G,Synonymous_G137G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,2:14:33.79:34,0,306:48:5:0.143 chr1 152975941 rs1055935 C G 252.57 LowGQ;LowDP DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=22.96;SB=-193.86;TI=NM_001097589,NM_005416;GI=SPRR3,SPRR3;FC=Missense_L149V,Missense_L149V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,11:11:21.07:286,21,0:52:21:1.000 chr1 153233488 . C CGGCGGT 689.92 PASS BaseQRankSum=-1.160;DP=37;FS=3.699;HRun=0;HaplotypeScore=109.3971;MQ=56;MQ0=0;MQRankSum=-0.074;QD=18.65;ReadPosRankSum=-1.752;SB=-166.77;TI=NM_000427;GI=LOR;FC=2AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,10:37:99:729,0,1219:56:99:0.270 chr1 153233701 rs1143390 A C 31.42 LowDP BaseQRankSum=-0.358;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=50;MQ0=0;MQRankSum=-1.231;QD=6.28;ReadPosRankSum=-1.231;SB=-24.42;TI=NM_000427;GI=LOR;FC=Synonymous_G92G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,3:5:56.28:61,0,56:50:31:0.600 chr1 153234007 . T C 5.31 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-1.449;DP=17;Dels=0.00;FS=3.136;HRun=1;HaplotypeScore=9.2936;MQ=52;MQ0=0;MQRankSum=-2.709;QD=0.31;ReadPosRankSum=-2.709;SB=-0.01;TI=NM_000427;GI=LOR;FC=Synonymous_S194S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,3:17:33.78:34,0,320:52:5:0.176 chr1 153234295 rs12043009 G A 1574.82 PASS BaseQRankSum=0.625;DP=124;Dels=0.00;FS=0.684;HRun=1;HaplotypeScore=9.7799;MQ=56;MQ0=0;MQRankSum=0.020;QD=12.70;ReadPosRankSum=0.655;SB=-866.98;TI=NM_000427;GI=LOR;FC=Synonymous_G290G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,63:124:99:1605,0,1346:56:99:0.508 chr1 153588340 rs11548103 C T 3747.96 PASS DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=49;MQ0=0;QD=25.50;SB=-2631.79;TI=NM_020672;GI=S100A14;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:147:99:3748,265,0:49:99:1.000 chr1 153662340 rs35240348 G A 2248.01 PASS BaseQRankSum=2.387;DP=189;Dels=0.00;FS=1.142;HRun=0;HaplotypeScore=8.2365;MQ=54;MQ0=0;MQRankSum=0.648;QD=11.89;ReadPosRankSum=-0.444;SB=-1585.43;TI=NM_000906;GI=NPR1;FC=Missense_R939Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,98:189:99:2278,0,2100:54:99:0.521 chr1 154401679 rs8192282 G A 1681.10 PASS BaseQRankSum=-0.293;DP=111;Dels=0.00;FS=9.712;HRun=1;HaplotypeScore=4.4430;MQ=54;MQ0=0;MQRankSum=1.627;QD=15.15;ReadPosRankSum=0.270;SB=-590.88;TI=NM_000565,NM_181359;GI=IL6R,IL6R;FC=Synonymous_A31A,Synonymous_A31A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,61:111:99:1711,0,1097:54:99:0.550 chr1 154426970 rs2228145 A C 1126.63 PASS BaseQRankSum=1.278;DP=85;Dels=0.00;FS=0.839;HRun=0;HaplotypeScore=6.3318;MQ=55;MQ0=0;MQRankSum=0.812;QD=13.25;ReadPosRankSum=1.000;SB=-832.62;TI=NM_000565,NM_181359;GI=IL6R,IL6R;FC=Missense_D358A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,51:85:99:1157,0,771:55:99:0.600 chr1 154557685 rs9427094 C T 1320.00 PASS BaseQRankSum=-0.480;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=1.693;QD=26.94;ReadPosRankSum=0.733;SB=-781.80;TI=NM_001193495,NM_015840,NM_015841,NM_001111,NM_001025107;GI=ADAR,ADAR,ADAR,ADAR,ADAR;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,47:49:60.57:1353,61,0:54:61:0.959 chr1 154573967 rs2229857 T C 7110.00 PASS DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3304;MQ=58;MQ0=0;QD=32.92;SB=-2921.56;TI=NM_001193495,NM_015840,NM_015841,NM_001111,NM_001025107;GI=ADAR,ADAR,ADAR,ADAR,ADAR;FC=Missense_K89R,Missense_K384R,Missense_K384R,Missense_K384R,Missense_K89R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,216:216:99:7110,530,0:58:99:1.000 chr1 154574820 rs1466731 T C 2178.76 PASS DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3712;MQ=58;MQ0=0;QD=35.72;SB=-1147.18;TI=NM_001193495,NM_015840,NM_015841,NM_001111,NM_001025107;GI=ADAR,ADAR,ADAR,ADAR,ADAR;FC=Silent,Missense_R100G,Missense_R100G,Missense_R100G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:2212,169,0:58:99:1.000 chr1 154575040 rs1802645 C T 6336.14 PASS DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=55;MQ0=0;QD=29.89;SB=-2569.52;TI=NM_001193495,NM_015840,NM_015841,NM_001111,NM_001025107;GI=ADAR,ADAR,ADAR,ADAR,ADAR;FC=Silent,Synonymous_R26R,Synonymous_R26R,Synonymous_R26R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,212:212:99:6336,463,0:55:99:1.000 chr1 154744807 rs1051614 C G 544.87 SB BaseQRankSum=0.594;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=-0.306;QD=16.51;ReadPosRankSum=-1.351;SB=-0.01;TI=NM_170782,NM_002249;GI=KCNN3,KCNN3;FC=Synonymous_L59L,Synonymous_L364L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,17:33:99:575,0,493:59:99:0.515 chr1 154744852 rs1131820 A G 436.36 SB;LowDP DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=58;MQ0=0;QD=36.36;SB=-0.01;TI=NM_170782,NM_002249;GI=KCNN3,KCNN3;FC=Synonymous_N44N,Synonymous_N349N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,12:12:36.11:469,36,0:58:36:1.000 chr1 154842199 rs3831942 G GGCTGCTGCT,GGCTGCTGCTGCTGCT 2913.48 R8 BaseQRankSum=-1.494;DP=54;FS=0.000;HaplotypeScore=135.0749;MQ=42;MQ0=0;MQRankSum=-0.657;QD=53.95;ReadPosRankSum=1.135;SB=-1148.32;TI=NM_002249;GI=KCNN3;FC=5AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:38,8,5:54:99:2992,469,471,797,0,818:42:99:0.255 chr1 154842243 . A C 114.05 LowVariantFreq;SB BaseQRankSum=1.393;DP=55;Dels=0.02;FS=21.723;HRun=0;HaplotypeScore=15.8792;MQ=40;MQ0=0;MQRankSum=0.395;QD=2.07;ReadPosRankSum=-3.690;SB=-0.01;TI=NM_002249;GI=KCNN3;FC=Synonymous_L66L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,9:54:99:144,0,1233:40:99:0.167 chr1 154842244 . A T 124.47 LowVariantFreq;SB BaseQRankSum=0.556;DP=55;Dels=0.02;FS=21.714;HRun=0;HaplotypeScore=15.8792;MQ=40;MQ0=0;MQRankSum=1.124;QD=2.26;ReadPosRankSum=-3.669;SB=-0.01;TI=NM_002249;GI=KCNN3;FC=Missense_L66H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,9:54:99:154,0,1150:40:99:0.176 chr1 155162067 rs4072037 C T 3136.63 PASS BaseQRankSum=1.644;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=55;MQ0=0;MQRankSum=1.432;QD=27.04;ReadPosRankSum=0.859;SB=-1992.86;TI=NM_001044393,NM_001018017,NM_001018016,NM_001044392,NM_001044391,NM_002456,NM_001044390;GI=MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1;FC=Synonymous_T22T,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Synonymous_T22T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,114:116:99:3170,193,0:55:99:0.983 chr1 155260383 rs1052176 G T 1435.16 PASS BaseQRankSum=1.147;DP=129;Dels=0.00;FS=1.418;HRun=0;HaplotypeScore=4.6527;MQ=52;MQ0=0;MQRankSum=2.024;QD=11.13;ReadPosRankSum=1.246;SB=-817.90;TI=NM_181871,NM_000298;GI=PKLR,PKLR;FC=Synonymous_R538R,Synonymous_R569R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,63:129:99:1465,0,1468:52:99:0.488 chr1 155720493 . A G 14.21 SB;LowDP BaseQRankSum=-1.495;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6868;MQ=45;MQ0=1;MQRankSum=0.198;QD=1.78;ReadPosRankSum=-0.922;SB=-0.01;TI=NR_024117,NM_001037533;GI=MSTO2P,GON4L;FC=Silent,Missense_L2202P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,2:8:44.04:44,0,121:45:14:0.250 chr1 155837865 rs822522 G C 6541.42 PASS DP=233;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.2165;MQ=55;MQ0=0;QD=28.07;SB=-4294.75;TI=NM_152280;GI=SYT11;FC=Missense_Q48H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,233:233:99:6541,467,0:55:99:1.000 chr1 155838267 rs822521 T C 6580.12 PASS DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=24.2573;MQ=57;MQ0=0;QD=28.00;SB=-4256.56;TI=NM_152280;GI=SYT11;FC=Synonymous_H182H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,231:235:99:6580,476,0:57:99:1.000 chr1 156025096 rs7541 C T 2667.72 PASS BaseQRankSum=-0.734;DP=240;Dels=0.00;FS=2.190;HRun=0;HaplotypeScore=6.3329;MQ=54;MQ0=0;MQRankSum=0.193;QD=11.12;ReadPosRankSum=-0.477;SB=-1789.51;TI=NM_014017,NM_001145264;GI=ROBLD3,ROBLD3;FC=Synonymous_Y37Y,Synonymous_Y37Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,116:240:99:2698,0,2788:54:99:0.483 chr1 156105028 rs538089 T C 2408.03 PASS DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.9641;MQ=53;MQ0=0;QD=26.46;SB=-1639.35;TI=NM_005572,NM_170707,NM_170708;GI=LMNA,LMNA,LMNA;FC=Synonymous_A287A,Synonymous_A287A,Synonymous_A287A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2441,178,0:53:99:1.000 chr1 156106185 rs505058 T C 1377.49 PASS DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=57;MQ0=0;QD=28.70;SB=-699.98;TI=NM_005572,NM_170707,NM_170708;GI=LMNA,LMNA,LMNA;FC=Synonymous_D446D,Synonymous_D446D,Synonymous_D446D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:99:1410,105,0:57:99:1.000 chr1 156146640 rs41265017 G A 5316.52 PASS DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5109;MQ=52;MQ0=0;QD=29.87;SB=-3080.89;TI=NM_001193301,NM_022367,NM_001193300,NM_001193302;GI=SEMA4A,SEMA4A,SEMA4A,SEMA4A;FC=Missense_R713Q,Missense_R713Q,Missense_R713Q,Missense_R581Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,178:178:99:5317,388,0:52:99:1.000 chr1 156526387 rs11264498 C G 3307.69 PASS BaseQRankSum=1.882;DP=303;Dels=0.00;FS=0.878;HRun=0;HaplotypeScore=2.8818;MQ=50;MQ0=0;MQRankSum=-0.120;QD=10.92;ReadPosRankSum=-1.103;SB=-2209.78;TI=NM_178229;GI=IQGAP3;FC=Missense_V410L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:161,142:303:99:3308,0,3607:50:99:0.469 chr1 156526430 rs35160849 G A 3140.32 PASS BaseQRankSum=0.184;DP=265;Dels=0.00;FS=1.496;HRun=0;HaplotypeScore=5.6522;MQ=50;MQ0=0;MQRankSum=1.608;QD=11.85;ReadPosRankSum=0.789;SB=-1981.31;TI=NM_178229;GI=IQGAP3;FC=Synonymous_D395D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,140:265:99:3170,0,3014:50:99:0.528 chr1 156526444 rs2488269 T C 6910.72 PASS DP=251;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.3879;MQ=50;MQ0=0;QD=27.53;SB=-4039.50;TI=NM_178229;GI=IQGAP3;FC=Missense_R391G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,251:251:99:6911,503,0:50:99:1.000 chr1 156532977 rs1171547 T C 7360.69 PASS DP=266;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.2684;MQ=54;MQ0=0;QD=27.67;SB=-4691.99;TI=NM_178229;GI=IQGAP3;FC=Synonymous_Q249Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,266:266:99:7361,524,0:54:99:1.000 chr1 156536221 rs2066377 G C 3922.65 PASS DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.65;SB=-2039.87;TI=NM_178229;GI=IQGAP3;FC=Synonymous_P81P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:128:99:3923,283,0:57:99:1.000 chr1 156536251 rs947662 T C 4479.49 PASS DP=163;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7502;MQ=55;MQ0=0;QD=27.48;SB=-2956.12;TI=NM_178229;GI=IQGAP3;FC=Synonymous_L71L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,162:163:99:4479,319,0:55:99:1.000 chr1 156785617 rs1800601 G A 3892.41 PASS DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=52;MQ0=0;QD=27.03;SB=-2436.25;TI=NM_001161443,NM_003975,NM_001161442,NM_001161441,NM_001161444,NM_001007792;GI=SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A,NTRK1;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,144:144:99:3892,277,0:52:99:1.000 chr1 156848995 rs6337 C T 1996.38 PASS BaseQRankSum=1.094;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8938;MQ=54;MQ0=0;MQRankSum=-1.276;QD=26.27;ReadPosRankSum=-1.048;SB=-1234.77;TI=NM_001007792,NM_001012331,NM_002529;GI=NTRK1,NTRK1,NTRK1;FC=Synonymous_A593A,Synonymous_A623A,Synonymous_A629A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,75:76:99:2029,111,0:54:99:0.987 chr1 156875107 rs2644590 C A 2327.98 PASS DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5487;MQ=52;MQ0=0;QD=25.87;SB=-1621.95;TI=NM_001080471;GI=PEAR1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2361,172,0:52:99:1.000 chr1 156877457 rs1952294 T C 4266.00 PASS DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7871;MQ=49;MQ0=0;QD=25.09;SB=-3214.31;TI=NM_001080471;GI=PEAR1;FC=Missense_S234P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:170:99:4266,304,0:49:99:1.000 chr1 156907081 rs945508 T C 1025.72 PASS BaseQRankSum=1.104;DP=119;Dels=0.00;FS=2.449;HRun=0;HaplotypeScore=5.5484;MQ=53;MQ0=0;MQRankSum=0.983;QD=8.62;ReadPosRankSum=-0.278;SB=-655.46;TI=NM_198236,NM_014784;GI=ARHGEF11,ARHGEF11;FC=Missense_H1467R,Missense_H1427R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,44:119:99:1056,0,1912:53:99:0.370 chr1 156907115 rs63387061 T C 774.29 PASS BaseQRankSum=0.692;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=54;MQ0=0;MQRankSum=0.165;QD=7.82;ReadPosRankSum=-0.692;SB=-440.47;TI=NM_198236,NM_014784;GI=ARHGEF11,ARHGEF11;FC=Missense_S1456G,Missense_S1416G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,35:99:99:804,0,1664:54:99:0.354 chr1 157648543 rs2282284 T C 1766.38 PASS BaseQRankSum=-1.108;DP=172;Dels=0.00;FS=1.235;HRun=0;HaplotypeScore=9.8568;MQ=51;MQ0=0;MQRankSum=2.958;QD=10.27;ReadPosRankSum=-0.328;SB=-1003.37;TI=NM_052939;GI=FCRL3;FC=Missense_N721S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,76:172:99:1796,0,2422:51:99:0.442 chr1 157668390 rs7522061 T C 179.81 PASS BaseQRankSum=1.812;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.675;QD=8.56;ReadPosRankSum=2.096;SB=-96.59;TI=NM_052939;GI=FCRL3;FC=Missense_N28D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,9:21:99:210,0,300:52:99:0.429 chr1 157670290 rs945635 C G 717.09 PASS BaseQRankSum=1.712;DP=95;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=9.3959;MQ=51;MQ0=0;MQRankSum=-0.726;QD=7.55;ReadPosRankSum=0.912;SB=-491.41;TI=NM_052939;GI=FCRL3;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,34:95:99:747,0,1477:51:99:0.358 chr1 158226667 rs1042388 C T 2274.51 PASS BaseQRankSum=-0.397;DP=215;Dels=0.00;FS=1.072;HRun=0;HaplotypeScore=16.6268;MQ=50;MQ0=2;MQRankSum=-1.422;QD=10.58;ReadPosRankSum=-0.406;SB=-1633.99;TI=NM_001763;GI=CD1A;FC=Synonymous_P232P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,106:215:99:2305,0,2509:50:99:0.493 chr1 158324425 rs1065457 A G 3180.44 PASS BaseQRankSum=2.298;DP=230;Dels=0.00;FS=6.644;HRun=1;HaplotypeScore=5.4153;MQ=56;MQ0=0;MQRankSum=2.366;QD=13.83;ReadPosRankSum=2.280;SB=-1700.09;TI=NM_001042585,NM_001185110,NM_030893,NM_001185108,NM_001185107,NM_001042586,NM_001185113,NM_001185115,NM_001042583,NM_001185112,NM_001042587,NM_001042584,NM_001185114;GI=CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E;FC=Missense_Q106R,Silent,Missense_Q106R,Missense_Q106R,Missense_Q106R,Silent,Silent,Missense_Q106R,Missense_Q106R,Silent,Silent,Missense_Q106R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,121:230:99:3210,0,2876:56:99:0.526 chr1 158582646 rs2251969 T C 2286.10 PASS DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=53;MQ0=0;QD=27.88;SB=-1292.83;TI=NM_003126;GI=SPTA1;FC=Synonymous_A2365A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:82:99:2319,169,0:53:99:1.000 chr1 158584091 rs952094 A G 2337.71 PASS DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=51;MQ0=0;QD=29.59;SB=-1419.25;TI=NM_003126;GI=SPTA1;FC=Missense_I2265T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2371,184,0:51:99:1.000 chr1 158584103 rs5778083 G GAA,GA 1145.65 R8 BaseQRankSum=-2.205;DP=63;FS=0.000;HaplotypeScore=331.8557;MQ=53;MQ0=0;MQRankSum=-0.204;QD=18.18;ReadPosRankSum=0.537;SB=-508.94;TI=NM_003126;GI=SPTA1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:10,19,28:63:99:1224,594,596,403,0,294:53:99:0.825 chr1 158592935 rs3753068 G A 1673.74 PASS BaseQRankSum=1.365;DP=146;Dels=0.00;FS=1.298;HRun=0;HaplotypeScore=6.5756;MQ=51;MQ0=0;MQRankSum=-0.347;QD=11.46;ReadPosRankSum=-1.545;SB=-1223.50;TI=NM_003126;GI=SPTA1;FC=Synonymous_P1986P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,76:146:99:1704,0,1725:51:99:0.521 chr1 158597507 rs3737515 G C 1005.95 PASS BaseQRankSum=0.004;DP=91;Dels=0.00;FS=2.876;HRun=1;HaplotypeScore=2.7829;MQ=54;MQ0=0;MQRankSum=1.553;QD=11.05;ReadPosRankSum=-0.870;SB=-527.89;TI=NM_003126;GI=SPTA1;FC=Missense_L1858V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,44:91:99:1036,0,1152:54:99:0.484 chr1 158606449 rs3738791 G T 1107.36 PASS BaseQRankSum=2.288;DP=87;Dels=0.00;FS=5.586;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.923;QD=12.73;ReadPosRankSum=2.425;SB=-819.36;TI=NM_003126;GI=SPTA1;FC=Synonymous_A1764A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,50:87:99:1137,0,973:54:99:0.575 chr1 158607935 rs857725 T G 3570.25 PASS BaseQRankSum=1.102;DP=327;Dels=0.00;FS=0.841;HRun=1;HaplotypeScore=9.2813;MQ=57;MQ0=0;MQRankSum=-0.210;QD=10.92;ReadPosRankSum=2.106;SB=-2561.76;TI=NM_003126;GI=SPTA1;FC=Missense_K1693Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:168,159:327:99:3570,0,3788:57:99:0.486 chr1 158612236 rs863931 A G 1349.83 PASS DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=53;MQ0=0;QD=28.72;SB=-634.80;TI=NM_003126;GI=SPTA1;FC=Missense_C1568R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:99:1383,99,0:53:99:1.000 chr1 158619728 rs2482965 A C 5332.82 PASS DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=53;MQ0=0;QD=28.67;SB=-3550.88;TI=NM_003126;GI=SPTA1;FC=Missense_S1163A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,185:186:99:5333,385,0:53:99:1.000 chr1 158626378 rs857691 C T 1892.83 PASS DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=52;MQ0=0;QD=25.58;SB=-1384.08;TI=NM_003126;GI=SPTA1;FC=Synonymous_L958L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:74:99:1926,135,0:52:99:1.000 chr1 158631171 rs2518493 A C 2820.92 PASS BaseQRankSum=0.991;DP=109;Dels=0.00;FS=2.237;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.009;QD=25.88;ReadPosRankSum=-0.176;SB=-1784.06;TI=NM_003126;GI=SPTA1;FC=Synonymous_L831L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,106:109:99:2854,131,0:56:99:0.972 chr1 158647495 rs325996 A T 4486.81 PASS DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=51;MQ0=0;QD=26.87;SB=-3035.63;TI=NM_003126;GI=SPTA1;FC=Synonymous_A314A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,166:167:99:4487,316,0:51:99:1.000 chr1 158647522 rs703121 A G 4943.40 PASS DP=186;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=50;MQ0=0;QD=26.58;SB=-3585.10;TI=NM_003126;GI=SPTA1;FC=Synonymous_S305S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,186:186:99:4943,349,0:50:99:1.000 chr1 158647631 rs325995 T A 1766.79 PASS DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=33.98;SB=-395.75;TI=NM_003126;GI=SPTA1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:99:1800,132,0:57:99:1.000 chr1 158655036 rs435080 G A 2120.06 PASS DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2480;MQ=52;MQ0=0;QD=25.85;SB=-1508.70;TI=NM_003126;GI=SPTA1;FC=Synonymous_V42V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2153,154,0:52:99:1.000 chr1 158656281 rs2564858 T C 1857.15 PASS DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=49;MQ0=0;QD=27.31;SB=-1108.67;TI=NM_003126;GI=SPTA1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:1890,141,0:49:99:1.000 chr1 159175354 rs12075 G A 6101.17 PASS BaseQRankSum=1.715;DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.7283;MQ=58;MQ0=0;MQRankSum=0.418;QD=30.06;ReadPosRankSum=-0.282;SB=-3003.40;TI=NM_002036,NM_001122951;GI=DARC,DARC;FC=Missense_G42D,Missense_G44D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,202:203:99:6101,448,0:58:99:0.995 chr1 159175494 rs34599082 C T 6012.96 PASS BaseQRankSum=1.434;DP=559;Dels=0.00;FS=0.306;HRun=0;HaplotypeScore=29.1024;MQ=54;MQ0=0;MQRankSum=5.737;QD=10.76;ReadPosRankSum=-1.186;SB=-4094.90;TI=NM_002036,NM_001122951;GI=DARC,DARC;FC=Missense_R89C,Missense_R91C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:302,256:559:99:6013,0,6992:54:99:0.459 chr1 159175527 . G A 5918.10 PASS BaseQRankSum=2.735;DP=554;Dels=0.00;FS=1.373;HRun=0;HaplotypeScore=28.5821;MQ=55;MQ0=0;MQRankSum=5.265;QD=10.68;ReadPosRankSum=1.777;SB=-3841.89;TI=NM_002036,NM_001122951;GI=DARC,DARC;FC=Missense_A100T,Missense_A102T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:295,256:554:99:5918,0,6761:55:99:0.465 chr1 160057507 . T G 10.77 SB BaseQRankSum=-2.115;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=11.4867;MQ=46;MQ0=0;MQRankSum=-2.585;QD=0.47;ReadPosRankSum=-2.820;SB=-0.01;TI=NM_004983;GI=KCNJ9;FC=Missense_V361G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,5:23:40.38:40,0,505:46:11:0.227 chr1 160057510 . A G 14.57 SB BaseQRankSum=-1.686;DP=26;Dels=0.04;FS=2.667;HRun=2;HaplotypeScore=15.1125;MQ=45;MQ0=0;MQRankSum=-1.686;QD=0.56;ReadPosRankSum=-0.541;SB=-0.01;TI=NM_004983;GI=KCNJ9;FC=Missense_E362G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,6:25:44.41:44,0,470:45:15:0.240 chr1 160057513 . A G 33.19 SB BaseQRankSum=-3.708;DP=26;Dels=0.00;FS=2.754;HRun=2;HaplotypeScore=19.5281;MQ=45;MQ0=0;MQRankSum=-3.312;QD=1.28;ReadPosRankSum=2.123;SB=-0.01;TI=NM_004983;GI=KCNJ9;FC=Missense_E363G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,9:26:63.18:63,0,496:45:33:0.360 chr1 160057516 . A G 115.97 SB;LowDP BaseQRankSum=-1.449;DP=19;Dels=0.00;FS=6.803;HRun=5;HaplotypeScore=20.7634;MQ=41;MQ0=0;MQRankSum=-1.630;QD=6.10;ReadPosRankSum=0.272;SB=-0.01;TI=NM_004983;GI=KCNJ9;FC=Missense_E364G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,7:19:99:146,0,255:41:99:0.389 chr1 160057522 rs3001040 C G 132.32 SB;LowDP BaseQRankSum=0.636;DP=18;Dels=0.00;FS=5.441;HRun=5;HaplotypeScore=26.5507;MQ=32;MQ0=0;MQRankSum=-0.212;QD=7.35;ReadPosRankSum=1.061;SB=19.04;TI=NM_004983;GI=KCNJ9;FC=Missense_A366G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,10:18:35.08:162,0,35:32:35:0.714 chr1 160057528 . A G 185.07 SB;LowDP BaseQRankSum=0.295;DP=19;Dels=0.05;FS=20.792;HRun=5;HaplotypeScore=40.6739;MQ=34;MQ0=0;MQRankSum=-1.591;QD=9.74;ReadPosRankSum=1.355;SB=-2.98;TI=NM_004983;GI=KCNJ9;FC=Missense_E368G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,9:18:78.95:215,0,79:34:79:0.600 chr1 160057534 . C G 76.92 SB;LowDP BaseQRankSum=1.226;DP=17;Dels=0.00;FS=8.451;HRun=5;HaplotypeScore=33.3420;MQ=32;MQ0=0;MQRankSum=-1.356;QD=4.52;ReadPosRankSum=-0.194;SB=0.03;TI=NM_004983;GI=KCNJ9;FC=Missense_A370G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,6:17:83.95:107,0,84:32:77:0.429 chr1 160057538 . T G 131.02 SB;LowDP BaseQRankSum=0.000;DP=19;Dels=0.00;FS=4.771;HRun=4;HaplotypeScore=34.9129;MQ=32;MQ0=0;MQRankSum=-1.164;QD=6.90;ReadPosRankSum=0.318;SB=-0.01;TI=NM_004983;GI=KCNJ9;FC=Synonymous_G371G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,9:19:74.12:161,0,74:32:74:0.563 chr1 160247185 rs10594 G C 6407.90 PASS BaseQRankSum=0.429;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3369;MQ=53;MQ0=0;MQRankSum=-1.087;QD=30.66;ReadPosRankSum=-0.441;SB=-2640.72;TI=NR_036492,NR_036493,NM_001193644,NM_002857;GI=PEX19,PEX19,PEX19,PEX19;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,207:209:99:6408,397,0:53:99:0.990 chr1 160393905 rs12086448 A G 1943.17 PASS DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2710;MQ=54;MQ0=0;QD=24.60;SB=-1381.62;TI=NM_020335;GI=VANGL2;FC=Synonymous_K379K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:1976,141,0:54:99:1.000 chr1 160394937 rs17380127 A C 1957.01 PASS DP=59;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=33.17;SB=-555.29;TI=NM_020335;GI=VANGL2;FC=Synonymous_G445G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1990,150,0:58:99:1.000 chr1 160395003 rs17380141 G A 3733.02 PASS DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6464;MQ=55;MQ0=0;QD=29.63;SB=-1948.88;TI=NM_020335;GI=VANGL2;FC=Synonymous_P467P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:3733,274,0:55:99:1.000 chr1 161172233 rs11538340 C A 1344.29 PASS BaseQRankSum=-0.165;DP=132;Dels=0.00;FS=6.691;HRun=0;HaplotypeScore=12.7513;MQ=55;MQ0=0;MQRankSum=0.946;QD=10.18;ReadPosRankSum=-0.423;SB=-659.55;TI=NM_004550,NM_001166159;GI=NDUFS2,NDUFS2;FC=Missense_P20T,Missense_P20T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,57:132:99:1374,0,1639:55:99:0.432 chr1 161202605 rs2307424 G A 693.64 PASS BaseQRankSum=1.960;DP=72;Dels=0.00;FS=6.373;HRun=0;HaplotypeScore=3.6689;MQ=52;MQ0=0;MQRankSum=0.868;QD=9.63;ReadPosRankSum=0.338;SB=-517.83;TI=NM_001077470,NM_001077479,NM_001077475,NM_001077476,NM_001077482,NM_001077472,NM_001077481,NM_001077480,NM_005122,NM_001077474,NM_001077478,NM_001077471,NM_001077469,NM_001077473,NM_001077477;GI=NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3;FC=Synonymous_P151P,Synonymous_P151P,Synonymous_P151P,Synonymous_P151P,Synonymous_P180P,Synonymous_P151P,Synonymous_P180P,Synonymous_P180P,Synonymous_P180P,Synonymous_P180P,Synonymous_P180P,Synonymous_P180P,Synonymous_P180P,Synonymous_P151P,Synonymous_P151P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,35:72:99:724,0,952:52:99:0.486 chr1 161284224 rs75726722 A AGT 818.43 PASS BaseQRankSum=0.713;DP=60;FS=0.000;HRun=0;HaplotypeScore=15.8065;MQ=55;MQ0=0;MQRankSum=1.224;QD=13.64;ReadPosRankSum=-0.434;SB=-407.02;TI=NM_003001,NM_001035512,NM_001035511,NM_001035513;GI=SDHC,SDHC,SDHC,SDHC;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,21:60:99:857,0,1746:55:99:0.350 chr1 161479745 rs1801274 A G 1012.23 PASS BaseQRankSum=0.705;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=1.642;QD=12.34;ReadPosRankSum=1.456;SB=-510.92;TI=NM_021642,NM_001136219;GI=FCGR2A,FCGR2A;FC=Missense_H166R,Missense_H167R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,41:82:99:1042,0,1099:59:99:0.500 chr1 161514542 rs396991 A C 369.87 PASS BaseQRankSum=0.684;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=53;MQ0=3;MQRankSum=-1.729;QD=5.78;ReadPosRankSum=-1.005;SB=-167.09;TI=NM_000569,NM_001127592,NM_001127593,NM_001127596,NM_001127595;GI=FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A;FC=Missense_F212V,Missense_F211V,Missense_F176V,Missense_F175V,Missense_F176V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,20:64:99:400,0,1325:53:99:0.313 chr1 161518214 rs2290834 T C 106.42 LowVariantFreq BaseQRankSum=0.109;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=36;MQ0=16;MQRankSum=-0.823;QD=1.40;ReadPosRankSum=1.974;SB=-41.30;TI=NM_000569,NM_001127592,NM_001127593,NM_001127596,NM_001127595;GI=FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A;FC=Missense_I142V,Missense_I141V,Missense_I106V,Missense_I105V,Missense_I106V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,12:76:99:136,0,1285:36:99:0.158 chr1 161518336 rs448740;rs77144485 C T 816.49 PASS BaseQRankSum=-0.179;DP=83;Dels=0.00;FS=0.896;HRun=1;HaplotypeScore=2.7776;MQ=49;MQ0=9;MQRankSum=-3.932;QD=9.84;ReadPosRankSum=-0.016;SB=-385.95;TI=NM_000569,NM_001127592,NM_001127593,NM_001127596,NM_001127595;GI=FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A;FC=Missense_S101N,Missense_S100N,Missense_S65N,Missense_S64N,Missense_S65N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,40:83:99:846,0,1065:49:99:0.482 chr1 161519476 . C T 144.64 LowVariantFreq;SB BaseQRankSum=0.308;DP=131;Dels=0.00;FS=6.697;HRun=0;HaplotypeScore=7.4227;MQ=50;MQ0=4;MQRankSum=-6.721;QD=1.10;ReadPosRankSum=2.644;SB=-0.01;TI=NM_000569,NM_001127592,NM_001127593,NM_001127596,NM_001127595;GI=FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,24:131:99:175,0,2723:50:99:0.183 chr1 161596032 . T C 595.44 PASS BaseQRankSum=1.366;DP=111;Dels=0.00;FS=0.812;HRun=0;HaplotypeScore=8.4598;MQ=57;MQ0=0;MQRankSum=0.587;QD=5.36;ReadPosRankSum=0.332;SB=-356.75;TI=NM_000570;GI=FCGR3B;FC=Synonymous_P160P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,29:111:99:625,0,2129:57:99:0.261 chr1 161599654 rs5030738 G T 228.66 LowGQ BaseQRankSum=1.273;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6655;MQ=23;MQ0=9;MQRankSum=-1.736;QD=9.15;ReadPosRankSum=0.579;SB=-121.95;TI=NM_000570;GI=FCGR3B;FC=Missense_A78D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,20:25:21.05:262,21,0:23:21:0.833 chr1 161599693 rs448740;rs76714703 T C 378.26 PASS DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=27;MQ0=9;QD=14.01;SB=-218.95;TI=NM_000570;GI=FCGR3B;FC=Missense_N65S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,24:27:36.07:411,36,0:27:36:0.889 chr1 161600995 rs34085961 C T 774.41 PASS BaseQRankSum=-1.097;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8935;MQ=56;MQ0=0;MQRankSum=-0.780;QD=19.36;ReadPosRankSum=1.473;SB=-219.16;TI=NM_000570;GI=FCGR3B;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,27:40:99:804,0,380:56:99:0.675 chr1 161642985 . G A 653.23 PASS BaseQRankSum=0.012;DP=62;Dels=0.00;FS=4.131;HRun=0;HaplotypeScore=2.6823;MQ=27;MQ0=19;MQRankSum=2.198;QD=10.54;ReadPosRankSum=0.236;SB=-180.82;TI=NM_001002274,NM_001002275,NM_001002273,NM_001190828,NM_004001;GI=FCGR2B,FCGR2B,FCGR2B,FCGR2B,FCGR2B;FC=Synonymous_L204L,Synonymous_L203L,Synonymous_L203L,Synonymous_L197L,Synonymous_L204L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,28:62:99:683,0,371:27:99:0.452 chr1 161748056 rs2070151 C T 1130.07 PASS BaseQRankSum=-0.277;DP=110;Dels=0.00;FS=0.708;HRun=1;HaplotypeScore=3.5764;MQ=53;MQ0=0;MQRankSum=-0.060;QD=10.27;ReadPosRankSum=1.389;SB=-750.84;TI=NM_007348;GI=ATF6;FC=Synonymous_L35L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,49:110:99:1160,0,1412:53:99:0.445 chr1 161753802 rs2271013 T C 1150.67 PASS BaseQRankSum=-0.233;DP=77;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=0.718;QD=14.94;ReadPosRankSum=-0.822;SB=-659.27;TI=NM_007348;GI=ATF6;FC=Synonymous_P90P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,45:77:99:1181,0,812:53:99:0.584 chr1 161753841 rs2271012 G A 1473.26 PASS BaseQRankSum=-0.794;DP=95;Dels=0.00;FS=1.738;HRun=0;HaplotypeScore=3.5764;MQ=52;MQ0=0;MQRankSum=0.209;QD=15.51;ReadPosRankSum=-1.037;SB=-721.89;TI=NM_007348;GI=ATF6;FC=Synonymous_S103S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,57:95:99:1503,0,970:52:99:0.600 chr1 161761276 rs2070150 G C 807.24 PASS BaseQRankSum=-1.182;DP=113;Dels=0.00;FS=1.608;HRun=1;HaplotypeScore=3.7876;MQ=50;MQ0=0;MQRankSum=1.796;QD=7.14;ReadPosRankSum=0.046;SB=-533.59;TI=NM_007348;GI=ATF6;FC=Missense_A145P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,38:113:99:837,0,1771:50:99:0.336 chr1 161761312 rs1135983 C T 408.00 PASS BaseQRankSum=-0.452;DP=68;Dels=0.00;FS=2.281;HRun=1;HaplotypeScore=2.9945;MQ=52;MQ0=0;MQRankSum=1.920;QD=6.00;ReadPosRankSum=2.655;SB=-288.65;TI=NM_007348;GI=ATF6;FC=Missense_P157S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,22:68:99:438,0,1213:52:99:0.324 chr1 161928327 rs9482 A G 2740.13 PASS BaseQRankSum=0.776;DP=253;Dels=0.00;FS=2.833;HRun=1;HaplotypeScore=19.5434;MQ=56;MQ0=0;MQRankSum=-1.988;QD=10.83;ReadPosRankSum=-0.188;SB=-2036.46;TI=NM_007348;GI=ATF6;FC=Synonymous_S632S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,130:253:99:2770,0,2887:56:99:0.514 chr1 162313735 rs3751284 C T 2085.51 PASS DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7605;MQ=50;MQ0=0;QD=26.40;SB=-1439.66;TI=NM_001164757,NM_014697;GI=NOS1AP,NOS1AP;FC=Synonymous_S183S,Synonymous_S188S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2119,150,0:50:99:1.000 chr1 162737116 rs2298258 C G 1035.37 PASS BaseQRankSum=0.893;DP=72;Dels=0.00;FS=0.962;HRun=0;HaplotypeScore=2.6823;MQ=53;MQ0=0;MQRankSum=0.541;QD=14.38;ReadPosRankSum=-0.517;SB=-778.70;TI=NM_001014796,NM_006182;GI=DDR2,DDR2;FC=Synonymous_L420L,Synonymous_L420L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,47:72:99:1065,0,593:53:99:0.662 chr1 165376043 rs283696 T C 2112.23 PASS DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2548;MQ=53;MQ0=0;QD=27.79;SB=-1290.19;TI=NM_006917;GI=RXRG;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2145,157,0:53:99:1.000 chr1 165377552 rs2134095 G A 2853.49 PASS DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.70;SB=-1949.91;TI=NM_006917;GI=RXRG;FC=Synonymous_V350V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,103:103:99:2886,208,0:52:99:1.000 chr1 165389129 rs1128977 G A 1259.92 PASS BaseQRankSum=1.929;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7879;MQ=52;MQ0=0;MQRankSum=0.366;QD=9.40;ReadPosRankSum=0.820;SB=-913.04;TI=NM_006917;GI=RXRG;FC=Synonymous_A140A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,58:134:99:1290,0,1833:52:99:0.433 chr1 165693539 rs3186873 T C 1083.50 PASS BaseQRankSum=0.254;DP=51;Dels=0.00;FS=1.844;HRun=1;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=1.127;QD=21.25;ReadPosRankSum=1.776;SB=-171.26;TI=NM_019026;GI=TMCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,35:51:99:1113,0,469:59:99:0.686 chr1 165693863 rs14223 G T 2771.00 PASS BaseQRankSum=1.572;DP=218;Dels=0.00;FS=1.664;HRun=1;HaplotypeScore=4.5705;MQ=55;MQ0=0;MQRankSum=0.249;QD=12.71;ReadPosRankSum=-0.898;SB=-1472.91;TI=NM_019026;GI=TMCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,109:218:99:2801,0,2847:55:99:0.500 chr1 165694223 . TTCTCTCTCTCTCTC T 4707.24 R8 BaseQRankSum=0.479;DP=129;FS=0.000;HRun=0;HaplotypeScore=339.9838;MQ=40;MQ0=0;MQRankSum=0.930;QD=36.49;ReadPosRankSum=0.873;SB=-1595.21;TI=NM_019026;GI=TMCO1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:92,28:129:72.07:4707,72,0:40:72:0.233 chr1 165694259 rs75829564 C A 160.47 LowVariantFreq BaseQRankSum=0.937;DP=52;Dels=0.02;FS=0.000;HRun=0;HaplotypeScore=34.1421;MQ=39;MQ0=0;MQRankSum=-2.669;QD=3.09;ReadPosRankSum=3.974;SB=-49.15;TI=NM_019026;GI=TMCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,10:51:99:190,0,1233:39:99:0.196 chr1 165694261 rs12037952 C A 447.23 PASS BaseQRankSum=-0.473;DP=54;Dels=0.02;FS=0.000;HRun=0;HaplotypeScore=32.2091;MQ=39;MQ0=0;MQRankSum=0.176;QD=8.28;ReadPosRankSum=1.975;SB=-195.50;TI=NM_019026;GI=TMCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,19:53:99:477,0,1017:39:99:0.358 chr1 165694286 . A T 620.72 PASS BaseQRankSum=-1.032;DP=47;Dels=0.00;FS=2.505;HRun=0;HaplotypeScore=2.8271;MQ=49;MQ0=0;MQRankSum=-0.713;QD=13.21;ReadPosRankSum=-0.947;SB=-224.11;TI=NM_019026;GI=TMCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,23:47:99:651,0,703:49:99:0.489 chr1 165694897 rs7524755 T C 8644.73 PASS DP=287;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.2201;MQ=56;MQ0=0;QD=30.12;SB=-4498.65;TI=NM_019026;GI=TMCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,287:287:99:8645,632,0:56:99:1.000 chr1 165694918 rs6426937 G C 3659.06 PASS BaseQRankSum=0.868;DP=329;Dels=0.00;FS=3.642;HRun=0;HaplotypeScore=13.4541;MQ=55;MQ0=0;MQRankSum=0.975;QD=11.12;ReadPosRankSum=-0.675;SB=-2199.64;TI=NM_019026;GI=TMCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:186,143:329:99:3659,0,4705:55:99:0.435 chr1 165695555 rs80274532 C T 3325.70 PASS BaseQRankSum=4.412;DP=318;Dels=0.00;FS=1.356;HRun=1;HaplotypeScore=21.7605;MQ=55;MQ0=0;MQRankSum=2.212;QD=10.46;ReadPosRankSum=0.806;SB=-2137.70;TI=NM_019026;GI=TMCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:181,137:318:99:3326,0,4168:55:99:0.431 chr1 165695579 rs1913845 C T 3476.89 PASS BaseQRankSum=3.224;DP=325;Dels=0.00;FS=0.411;HRun=3;HaplotypeScore=15.6475;MQ=55;MQ0=0;MQRankSum=4.045;QD=10.70;ReadPosRankSum=0.649;SB=-2131.49;TI=NM_019026;GI=TMCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:181,143:325:99:3477,0,4269:55:99:0.441 chr1 165695726 rs1913846 T C 2675.97 PASS BaseQRankSum=-0.885;DP=212;Dels=0.00;FS=3.931;HRun=0;HaplotypeScore=12.7873;MQ=53;MQ0=0;MQRankSum=2.861;QD=12.62;ReadPosRankSum=-0.395;SB=-1359.21;TI=NM_019026;GI=TMCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,98:212:99:2706,0,2832:53:99:0.464 chr1 165695855 rs6660601 C T 4785.37 PASS DP=151;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=31.69;SB=-2585.82;TI=NM_019026;GI=TMCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,151:151:99:4785,349,0:55:99:1.000 chr1 167817639 rs203795 A G 4176.28 PASS DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6303;MQ=53;MQ0=0;QD=26.43;SB=-2810.08;TI=NM_001167749,NM_018417;GI=ADCY10,ADCY10;FC=Synonymous_G646G,Synonymous_G799G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,158:158:99:4176,295,0:53:99:1.000 chr1 167825485 rs2071921 T C 944.03 PASS BaseQRankSum=1.241;DP=68;Dels=0.00;FS=0.981;HRun=0;HaplotypeScore=2.7041;MQ=53;MQ0=0;MQRankSum=1.780;QD=13.88;ReadPosRankSum=2.018;SB=-571.26;TI=NM_001167749,NM_018417;GI=ADCY10,ADCY10;FC=Missense_I544V,Missense_I697V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,41:68:99:974,0,664:53:99:0.603 chr1 167839578 rs67878347 G A 1068.01 PASS BaseQRankSum=-0.604;DP=110;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6717;MQ=55;MQ0=0;MQRankSum=0.488;QD=9.71;ReadPosRankSum=0.015;SB=-764.76;TI=NM_001167749,NM_018417;GI=ADCY10,ADCY10;FC=Synonymous_V358V,Synonymous_V511V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,52:110:99:1098,0,1357:55:99:0.477 chr1 167849414 rs203849 A G 1013.04 PASS BaseQRankSum=0.044;DP=108;Dels=0.00;FS=0.737;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=0.672;QD=9.38;ReadPosRankSum=2.761;SB=-642.37;TI=NM_001167749,NM_018417;GI=ADCY10,ADCY10;FC=Synonymous_G232G,Synonymous_G385G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,43:108:99:1043,0,1498:51:99:0.398 chr1 169498975 rs6030 T C 1531.18 PASS BaseQRankSum=1.786;DP=107;Dels=0.00;FS=2.701;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=1.127;QD=14.31;ReadPosRankSum=0.888;SB=-740.50;TI=NM_000130;GI=F5;FC=Missense_M1764V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,60:107:99:1561,0,1208:53:99:0.561 chr1 169510233 rs9332607 G A 1233.81 PASS BaseQRankSum=-2.034;DP=203;Dels=0.00;FS=12.452;HRun=0;HaplotypeScore=79.9217;MQ=49;MQ0=4;MQRankSum=3.910;QD=6.08;ReadPosRankSum=-0.107;SB=-647.08;TI=NM_000130;GI=F5;FC=Synonymous_T1365T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:130,69:203:99:1264,0,2886:49:99:0.347 chr1 169510246 . G A 254.65 SB BaseQRankSum=-2.088;DP=197;Dels=0.00;FS=47.013;HRun=0;HaplotypeScore=52.4716;MQ=48;MQ0=5;MQRankSum=-1.926;QD=1.29;ReadPosRankSum=0.171;SB=-0.01;TI=NM_000130;GI=F5;FC=Missense_P1361L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:151,43:197:99:285,0,3567:48:99:0.222 chr1 169510293 . T C 126.31 LowVariantFreq;SB BaseQRankSum=-1.753;DP=224;Dels=0.00;FS=22.804;HRun=0;HaplotypeScore=92.3546;MQ=46;MQ0=3;MQRankSum=-4.790;QD=0.56;ReadPosRankSum=0.954;SB=-0.01;TI=NM_000130;GI=F5;FC=Synonymous_Q1345Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:186,31:224:99:156,0,4178:46:99:0.143 chr1 169510367 . T G 138.03 LowVariantFreq;SB BaseQRankSum=-3.406;DP=271;Dels=0.00;FS=1.879;HRun=3;HaplotypeScore=73.7247;MQ=45;MQ0=9;MQRankSum=-3.058;QD=0.51;ReadPosRankSum=0.619;SB=-3.73;TI=NM_000130;GI=F5;FC=Missense_I1321L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:224,46:271:99:168,0,4806:45:99:0.170 chr1 169510380 rs9287090 G A 1688.97 PASS BaseQRankSum=-0.666;DP=268;Dels=0.00;FS=5.135;HRun=1;HaplotypeScore=96.1626;MQ=44;MQ0=8;MQRankSum=2.985;QD=6.30;ReadPosRankSum=1.382;SB=-862.21;TI=NM_000130;GI=F5;FC=Synonymous_L1316L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:174,92:268:99:1719,0,3513:44:99:0.346 chr1 169510524 rs1800594 A G 2028.85 PASS BaseQRankSum=3.300;DP=213;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=89.3174;MQ=45;MQ0=7;MQRankSum=-1.988;QD=9.53;ReadPosRankSum=-0.199;SB=-952.06;TI=NM_000130;GI=F5;FC=Synonymous_S1268S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,109:213:99:2059,0,1784:45:99:0.517 chr1 169510577 . A G 30.70 SB BaseQRankSum=-2.857;DP=234;Dels=0.00;FS=7.866;HRun=0;HaplotypeScore=114.4783;MQ=46;MQ0=2;MQRankSum=-3.892;QD=0.13;ReadPosRankSum=-0.749;SB=-0.01;TI=NM_000130;GI=F5;FC=Synonymous_L1251L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:179,50:233:60.68:61,0,3999:46:31:0.218 chr1 169511403 rs41272457 G A 2884.21 PASS BaseQRankSum=0.350;DP=175;Dels=0.00;FS=5.623;HRun=0;HaplotypeScore=9.3751;MQ=58;MQ0=0;MQRankSum=0.725;QD=16.48;ReadPosRankSum=-0.044;SB=-1331.93;TI=NM_000130;GI=F5;FC=Synonymous_P975P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,97:175:99:2914,0,2072:58:99:0.554 chr1 169511555 rs6032 T C 2929.55 PASS BaseQRankSum=1.381;DP=211;Dels=0.00;FS=3.938;HRun=2;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=1.609;QD=13.88;ReadPosRankSum=-2.364;SB=-1566.24;TI=NM_000130;GI=F5;FC=Missense_K925E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,110:211:99:2960,0,2717:56:99:0.524 chr1 169511734 rs4525 T C 2238.70 PASS BaseQRankSum=1.793;DP=160;Dels=0.00;FS=4.828;HRun=0;HaplotypeScore=1.7608;MQ=58;MQ0=0;MQRankSum=1.137;QD=13.99;ReadPosRankSum=-0.007;SB=-855.12;TI=NM_000130;GI=F5;FC=Missense_H865R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,77:160:99:2269,0,2290:58:99:0.481 chr1 169511755 rs4524 T C 1574.11 PASS BaseQRankSum=1.785;DP=114;Dels=0.00;FS=2.469;HRun=0;HaplotypeScore=2.7829;MQ=58;MQ0=0;MQRankSum=0.612;QD=13.81;ReadPosRankSum=0.380;SB=-675.08;TI=NM_000130;GI=F5;FC=Missense_K858R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,57:114:99:1604,0,1700:58:99:0.500 chr1 169512027 rs6021 T C 2964.99 PASS BaseQRankSum=0.639;DP=200;Dels=0.00;FS=2.424;HRun=0;HaplotypeScore=4.7869;MQ=56;MQ0=0;MQRankSum=2.757;QD=14.82;ReadPosRankSum=-3.427;SB=-1691.05;TI=NM_000130;GI=F5;FC=Synonymous_S767S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,105:200:99:2995,0,2717:56:99:0.525 chr1 169512093 rs6017 A G 3189.23 PASS BaseQRankSum=5.162;DP=236;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=56;MQ0=0;MQRankSum=1.946;QD=13.51;ReadPosRankSum=2.375;SB=-1999.62;TI=NM_000130;GI=F5;FC=Synonymous_N745N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,120:236:99:3219,0,2981:56:99:0.508 chr1 169512120 rs6016 G A 3166.23 PASS BaseQRankSum=1.146;DP=226;Dels=0.00;FS=1.034;HRun=1;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=1.093;QD=14.01;ReadPosRankSum=1.294;SB=-1730.20;TI=NM_000130;GI=F5;FC=Synonymous_I736I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,115:226:99:3196,0,2902:57:99:0.509 chr1 169519049 rs6025 T C 629.12 PASS DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=27.35;SB=-252.67;TI=NM_000130;GI=F5;FC=Missense_Q534R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,22:23:48.16:662,48,0:57:48:1.000 chr1 169528384 rs6023 G A 655.47 PASS BaseQRankSum=0.884;DP=53;Dels=0.00;FS=1.124;HRun=0;HaplotypeScore=1.9931;MQ=54;MQ0=0;MQRankSum=0.491;QD=12.37;ReadPosRankSum=0.581;SB=-217.66;TI=NM_000130;GI=F5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,24:53:99:685,0,729:54:99:0.453 chr1 169566313 rs6127 C T 2856.20 PASS BaseQRankSum=3.610;DP=238;Dels=0.00;FS=2.900;HRun=1;HaplotypeScore=9.0463;MQ=54;MQ0=0;MQRankSum=2.154;QD=12.00;ReadPosRankSum=-0.278;SB=-1860.80;TI=NM_003005;GI=SELP;FC=Missense_D603N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,122:238:99:2886,0,2624:54:99:0.513 chr1 169676486 rs1131498 A G 920.26 PASS BaseQRankSum=1.696;DP=62;Dels=0.00;FS=1.016;HRun=0;HaplotypeScore=1.8835;MQ=54;MQ0=0;MQRankSum=1.636;QD=14.84;ReadPosRankSum=1.101;SB=-679.01;TI=NR_029467,NM_000655;GI=SELL,SELL;FC=Silent,Missense_F206L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,41:62:99:950,0,490:54:99:0.661 chr1 169677709 rs1051091 A G 1867.23 PASS BaseQRankSum=-0.331;DP=128;Dels=0.00;FS=10.179;HRun=0;HaplotypeScore=2.6823;MQ=59;MQ0=0;MQRankSum=2.695;QD=14.59;ReadPosRankSum=-1.805;SB=-1001.30;TI=NR_029467,NM_000655;GI=SELL,SELL;FC=Silent,Synonymous_L120L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,68:128:99:1897,0,1722:59:99:0.535 chr1 169697076 rs5367 A G 2027.89 PASS BaseQRankSum=0.847;DP=135;Dels=0.00;FS=0.654;HRun=0;HaplotypeScore=13.8950;MQ=57;MQ0=0;MQRankSum=2.604;QD=15.02;ReadPosRankSum=-0.227;SB=-1105.50;TI=NM_000450;GI=SELE;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,69:135:99:2058,0,1845:57:99:0.511 chr1 169698789 rs5363 A G 2128.60 PASS BaseQRankSum=2.976;DP=213;Dels=0.00;FS=10.022;HRun=2;HaplotypeScore=11.8070;MQ=55;MQ0=0;MQRankSum=4.607;QD=9.99;ReadPosRankSum=-0.500;SB=-642.65;TI=NM_000450;GI=SELE;FC=Synonymous_N247N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:132,80:213:99:2159,0,3214:55:99:0.377 chr1 169698825 rs1534904 T G 3887.40 PASS DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4373;MQ=57;MQ0=0;QD=31.86;SB=-1151.43;TI=NM_000450;GI=SELE;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3887,289,0:57:99:1.000 chr1 169701060 rs5361 T G 1775.63 PASS BaseQRankSum=2.088;DP=122;Dels=0.00;FS=3.577;HRun=1;HaplotypeScore=3.8859;MQ=54;MQ0=0;MQRankSum=-0.412;QD=14.55;ReadPosRankSum=-0.762;SB=-1264.02;TI=NM_000450;GI=SELE;FC=Missense_S149R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,80:122:99:1806,0,992:54:99:0.656 chr1 169701901 rs1800016 T C 427.54 PASS BaseQRankSum=0.617;DP=36;Dels=0.00;FS=2.788;HRun=1;HaplotypeScore=2.8611;MQ=59;MQ0=0;MQRankSum=-1.060;QD=11.88;ReadPosRankSum=-0.427;SB=-297.08;TI=NM_000450;GI=SELE;FC=Synonymous_E92E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,18:36:99:458,0,531:59:99:0.500 chr1 169701904 rs1800015 T C 385.78 PASS BaseQRankSum=1.376;DP=36;Dels=0.00;FS=3.093;HRun=1;HaplotypeScore=2.7605;MQ=59;MQ0=0;MQRankSum=1.977;QD=10.72;ReadPosRankSum=-0.332;SB=-260.14;TI=NM_000450;GI=SELE;FC=Synonymous_T91T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,18:36:99:416,0,533:59:99:0.500 chr1 169890933 rs518928 A G 982.18 PASS BaseQRankSum=1.685;DP=106;Dels=0.00;FS=0.725;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.044;QD=9.27;ReadPosRankSum=0.111;SB=-760.41;TI=NM_014970;GI=KIFAP3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,48:106:99:1012,0,1408:53:99:0.453 chr1 170501385 rs7531125 A C 1575.19 PASS DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6381;MQ=55;MQ0=0;QD=30.89;SB=-605.92;TI=NM_001146039,NR_027397,NM_152281;GI=GORAB,GORAB,GORAB;FC=Synonymous_G32G,Silent,Synonymous_G32G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:99:1608,117,0:55:99:1.000 chr1 170521650 rs7552922 T G 2091.01 PASS BaseQRankSum=-0.947;DP=129;Dels=0.00;FS=14.914;HRun=0;HaplotypeScore=4.7861;MQ=58;MQ0=0;MQRankSum=0.427;QD=16.21;ReadPosRankSum=-2.774;SB=-739.97;TI=NR_027397,NM_152281;GI=GORAB,GORAB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,69:129:99:2121,0,1931:58:99:0.535 chr1 170522667 rs6427262 T A 1615.33 PASS BaseQRankSum=2.096;DP=134;Dels=0.00;FS=1.367;HRun=7;HaplotypeScore=16.0552;MQ=59;MQ0=0;MQRankSum=0.929;QD=12.05;ReadPosRankSum=0.332;SB=-1109.15;TI=NR_027397,NM_152281;GI=GORAB,GORAB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,70:134:99:1645,0,1670:59:99:0.522 chr1 171076966 rs2266782 G A 1610.22 PASS BaseQRankSum=2.241;DP=124;Dels=0.00;FS=2.337;HRun=4;HaplotypeScore=3.7878;MQ=58;MQ0=0;MQRankSum=1.986;QD=12.99;ReadPosRankSum=1.132;SB=-882.58;TI=NM_006894,NM_001002294;GI=FMO3,FMO3;FC=Missense_E158K,Missense_E158K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,62:124:99:1640,0,1434:58:99:0.500 chr1 171077372 rs2066534 C G 341.61 SB BaseQRankSum=-0.213;DP=34;Dels=0.00;FS=12.127;HRun=0;HaplotypeScore=2.6548;MQ=59;MQ0=0;MQRankSum=-0.177;QD=10.05;ReadPosRankSum=0.638;SB=-0.01;TI=NM_006894,NM_001002294;GI=FMO3,FMO3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,13:34:99:372,0,572:59:99:0.382 chr1 171130346 rs16864125 G A 1532.61 PASS BaseQRankSum=0.777;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5658;MQ=52;MQ0=0;MQRankSum=0.352;QD=12.36;ReadPosRankSum=0.397;SB=-629.04;TI=NR_002601;GI=FMO6P;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,62:124:99:1563,0,1534:52:99:0.500 chr1 171130539 rs72714112 G C 635.14 PASS BaseQRankSum=0.397;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=0.783;QD=14.11;ReadPosRankSum=0.511;SB=-171.78;TI=NR_002601;GI=FMO6P;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,22:45:99:665,0,654:57:99:0.489 chr1 171130598 . CACACA C 2121.81 PASS BaseQRankSum=-0.250;DP=57;FS=0.000;HRun=0;HaplotypeScore=144.5248;MQ=49;MQ0=1;MQRankSum=-2.531;QD=37.22;ReadPosRankSum=1.066;SB=-867.90;TI=NR_002601;GI=FMO6P;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,32:56:99:2161,0,1431:49:99:0.561 chr1 171162551 rs2020868 T TGAC 2690.29 PASS BaseQRankSum=7.581;DP=101;FS=0.000;HRun=0;HaplotypeScore=254.3667;MQ=58;MQ0=0;MQRankSum=0.187;QD=26.64;ReadPosRankSum=-0.953;SB=-1026.85;TI=NM_001460;GI=FMO2;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,51:101:99:2729,0,2036:58:99:0.554 chr1 171162583 rs2020860 T C 1712.27 PASS BaseQRankSum=1.169;DP=124;Dels=0.00;FS=2.285;HRun=2;HaplotypeScore=3.8664;MQ=56;MQ0=0;MQRankSum=0.915;QD=13.81;ReadPosRankSum=-0.241;SB=-973.02;TI=NM_001460;GI=FMO2;FC=Missense_F81S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,66:124:99:1742,0,1488:56:99:0.537 chr1 171165802 rs28369860 TG T 4329.16 PASS BaseQRankSum=-1.961;DP=202;FS=2.432;HRun=1;HaplotypeScore=94.0586;MQ=55;MQ0=0;MQRankSum=2.060;QD=21.43;ReadPosRankSum=2.707;SB=-2074.52;TI=NM_001460;GI=FMO2;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,109:202:99:4329,0,3613:55:99:0.540 chr1 171168584 rs2020862 C T 1242.93 PASS BaseQRankSum=0.380;DP=112;Dels=0.00;FS=2.488;HRun=1;HaplotypeScore=13.9546;MQ=51;MQ0=0;MQRankSum=2.601;QD=11.10;ReadPosRankSum=-0.602;SB=-770.15;TI=NM_001460;GI=FMO2;FC=Missense_S195L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,58:112:99:1273,0,1178:51:99:0.527 chr1 171168585 rs2020861 A G 1286.68 PASS BaseQRankSum=-1.204;DP=111;Dels=0.00;FS=3.621;HRun=2;HaplotypeScore=13.0879;MQ=50;MQ0=0;MQRankSum=1.861;QD=11.59;ReadPosRankSum=0.074;SB=-749.52;TI=NM_001460;GI=FMO2;FC=Synonymous_S195S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,60:111:99:1317,0,1183:50:99:0.541 chr1 171176912 rs2020865 T G 1162.89 PASS BaseQRankSum=1.043;DP=101;Dels=0.00;FS=0.741;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=-0.153;QD=11.51;ReadPosRankSum=-1.742;SB=-772.46;TI=NM_001460;GI=FMO2;FC=Missense_N413K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,50:101:99:1193,0,1255:54:99:0.495 chr1 171621525 rs2234926 C T 1108.56 PASS BaseQRankSum=1.892;DP=82;Dels=0.00;FS=0.836;HRun=1;HaplotypeScore=3.5764;MQ=57;MQ0=0;MQRankSum=3.969;QD=13.52;ReadPosRankSum=2.281;SB=-609.89;TI=NM_000261;GI=MYOC;FC=Missense_R76K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,41:82:99:1139,0,1136:57:99:0.500 chr1 173878832 rs5878 T C 810.56 PASS BaseQRankSum=1.465;DP=73;Dels=0.00;FS=1.992;HRun=1;HaplotypeScore=4.4156;MQ=53;MQ0=0;MQRankSum=1.310;QD=11.10;ReadPosRankSum=-0.282;SB=-505.94;TI=NM_000488;GI=SERPINC1;FC=Synonymous_Q337Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,34:73:99:841,0,935:53:99:0.466 chr1 173878862 rs5877 T C 1021.52 PASS BaseQRankSum=1.057;DP=102;Dels=0.00;FS=0.745;HRun=1;HaplotypeScore=3.7853;MQ=53;MQ0=0;MQRankSum=-0.230;QD=10.01;ReadPosRankSum=2.094;SB=-657.41;TI=NM_000488;GI=SERPINC1;FC=Synonymous_V327V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,43:102:99:1052,0,1387:53:99:0.422 chr1 175299301 rs2027867 T C 10488.07 PASS DP=391;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.2172;MQ=53;MQ0=0;QD=26.82;SB=-7219.49;TI=NM_003285;GI=TNR;FC=Synonymous_Q1234Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,391:391:99:10488,743,0:53:99:1.000 chr1 175324651 rs2228359 A G 1224.98 PASS BaseQRankSum=-0.296;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=54;MQ0=0;MQRankSum=1.948;QD=10.84;ReadPosRankSum=2.022;SB=-826.85;TI=NM_003285;GI=TNR;FC=Synonymous_D1079D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,53:113:99:1255,0,1430:54:99:0.469 chr1 175324711 rs61731115 G A 1436.67 PASS BaseQRankSum=-0.449;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=2.056;QD=10.41;ReadPosRankSum=-1.325;SB=-826.51;TI=NM_003285;GI=TNR;FC=Synonymous_I1059I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,63:138:99:1467,0,1859:52:99:0.457 chr1 175348723 rs859427 C T 802.32 PASS BaseQRankSum=1.152;DP=85;Dels=0.00;FS=0.839;HRun=1;HaplotypeScore=1.8640;MQ=50;MQ0=0;MQRankSum=0.049;QD=9.44;ReadPosRankSum=0.849;SB=-448.92;TI=NM_003285;GI=TNR;FC=Missense_R643K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,36:85:99:832,0,1220:50:99:0.424 chr1 175355391 rs859437 A G 2358.25 PASS DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.03;SB=-886.07;TI=NM_003285;GI=TNR;FC=Synonymous_T518T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2391,175,0:56:99:1.000 chr1 175375683 rs859399 T C 281.43 PASS BaseQRankSum=1.962;DP=24;Dels=0.00;FS=1.674;HRun=0;HaplotypeScore=1.9996;MQ=56;MQ0=0;MQRankSum=0.966;QD=11.73;ReadPosRankSum=-2.196;SB=-125.83;TI=NM_003285;GI=TNR;FC=Synonymous_T56T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,10:24:99:311,0,355:56:99:0.417 chr1 175375802 rs859398 T C 109.63 LowDP BaseQRankSum=0.387;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=1.186;QD=9.14;ReadPosRankSum=-1.408;SB=-34.63;TI=NM_003285;GI=TNR;FC=Missense_I17V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,5:12:99:140,0,171:55:99:0.455 chr1 176118219 rs3748618 G A 534.66 PASS BaseQRankSum=1.111;DP=60;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=2.200;QD=8.91;ReadPosRankSum=1.007;SB=-384.19;TI=NM_001001740,NM_022457;GI=RFWD2,RFWD2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,26:60:99:565,0,728:56:99:0.433 chr1 179520506 rs1410592 G A 1370.18 PASS DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7876;MQ=55;MQ0=0;QD=29.15;SB=-639.29;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Synonymous_A318A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:99:1403,102,0:55:99:1.000 chr1 179544898 rs1079292 T C 1663.93 PASS BaseQRankSum=0.653;DP=61;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.8223;MQ=55;MQ0=0;MQRankSum=-1.619;QD=27.28;ReadPosRankSum=-1.164;SB=-724.57;TI=NM_014625;GI=NPHS2;FC=Synonymous_G34G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,60:61:93.07:1697,93,0:55:93:0.984 chr1 180243524 rs7536561 A G 862.50 PASS BaseQRankSum=0.978;DP=90;Dels=0.00;FS=2.741;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=-0.443;QD=9.58;ReadPosRankSum=-1.717;SB=-577.68;TI=NM_033343,NR_037642;GI=LHX4,LOC100527964;FC=Missense_N328S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,40:90:99:892,0,1107:53:99:0.444 chr1 181018258 rs3863720 G A 1882.93 PASS BaseQRankSum=0.430;DP=217;Dels=0.00;FS=0.541;HRun=0;HaplotypeScore=0.8941;MQ=47;MQ0=17;MQRankSum=-2.554;QD=8.68;ReadPosRankSum=2.601;SB=-1034.09;TI=NM_001531,NM_001195000,NM_001195035,NM_001194999;GI=MR1,MR1,MR1,MR1;FC=Synonymous_S46S,Synonymous_S46S,Synonymous_S46S,Synonymous_S46S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,95:217:99:1913,0,3017:47:99:0.438 chr1 181752923 rs36163765 AAGCTT A 4963.92 PASS DP=70;FS=0.000;HRun=0;HaplotypeScore=42.4451;MQ=54;MQ0=0;QD=70.91;SB=-2369.11;TI=NM_000721;GI=CACNA1E;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,65:70:99:4964,196,0:54:99:0.929 chr1 181759657 rs704326 G A 4409.07 PASS BaseQRankSum=1.710;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3861;MQ=55;MQ0=0;MQRankSum=-0.386;QD=28.08;ReadPosRankSum=1.467;SB=-3000.53;TI=NM_000721;GI=CACNA1E;FC=Missense_A1955T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,156:157:99:4409,319,0:55:99:0.994 chr1 182353624 . G A 1445.74 PASS BaseQRankSum=-2.313;DP=94;Dels=0.00;FS=18.213;HRun=0;HaplotypeScore=5.4346;MQ=59;MQ0=0;MQRankSum=-1.809;QD=15.38;ReadPosRankSum=1.755;SB=-866.43;TI=NM_001033056,NM_002065,NM_001033044;GI=GLUL,GLUL,GLUL;FC=Synonymous_C346C,Synonymous_C346C,Synonymous_C346C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,54:94:99:1476,0,1130:59:99:0.574 chr1 182356399 rs1058111 A G 746.87 PASS BaseQRankSum=-0.591;DP=79;Dels=0.00;FS=0.870;HRun=1;HaplotypeScore=2.7714;MQ=52;MQ0=0;MQRankSum=2.530;QD=9.45;ReadPosRankSum=-0.989;SB=-499.44;TI=NM_001033056,NM_002065,NM_001033044;GI=GLUL,GLUL,GLUL;FC=Synonymous_S65S,Synonymous_S65S,Synonymous_S65S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,33:79:99:777,0,1110:52:99:0.418 chr1 182551337 rs627928 A C 1674.80 PASS BaseQRankSum=0.522;DP=136;Dels=0.00;FS=1.374;HRun=0;HaplotypeScore=4.4704;MQ=53;MQ0=0;MQRankSum=0.875;QD=12.31;ReadPosRankSum=0.605;SB=-1024.23;TI=NM_021133;GI=RNASEL;FC=Missense_D541E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,69:136:99:1705,0,1401:53:99:0.507 chr1 182554557 rs486907 C T 1096.96 PASS BaseQRankSum=0.440;DP=115;Dels=0.00;FS=1.580;HRun=3;HaplotypeScore=4.4156;MQ=51;MQ0=0;MQRankSum=0.406;QD=9.54;ReadPosRankSum=0.559;SB=-624.45;TI=NM_021133;GI=RNASEL;FC=Missense_R462Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,48:115:99:1127,0,1680:51:99:0.417 chr1 182993025 rs10911194 C T 1153.59 PASS BaseQRankSum=0.998;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.2572;MQ=58;MQ0=0;MQRankSum=-0.462;QD=13.26;ReadPosRankSum=1.266;SB=-309.09;TI=NM_002293;GI=LAMC1;FC=Synonymous_A58A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,44:87:99:1184,0,1117:58:99:0.512 chr1 183072590 rs2296288 T C 2119.67 PASS BaseQRankSum=1.776;DP=166;Dels=0.00;FS=1.928;HRun=0;HaplotypeScore=10.0919;MQ=55;MQ0=0;MQRankSum=2.878;QD=12.77;ReadPosRankSum=-0.520;SB=-1254.02;TI=NM_002293;GI=LAMC1;FC=Synonymous_C182C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,83:166:99:2150,0,2174:55:99:0.500 chr1 183085755 rs20563 A G 1213.33 PASS BaseQRankSum=1.418;DP=106;Dels=0.00;FS=3.829;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=2.349;QD=11.45;ReadPosRankSum=0.073;SB=-441.24;TI=NM_002293;GI=LAMC1;FC=Missense_I458V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,46:106:99:1243,0,1621:53:99:0.434 chr1 183086757 rs2296292 A C 3604.19 PASS BaseQRankSum=1.323;DP=273;Dels=0.00;FS=4.146;HRun=1;HaplotypeScore=13.7702;MQ=55;MQ0=0;MQRankSum=4.132;QD=13.20;ReadPosRankSum=-0.196;SB=-1643.75;TI=NM_002293;GI=LAMC1;FC=Synonymous_A592A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:134,139:273:99:3604,0,3207:55:99:0.509 chr1 183093875 rs20557 T C 1647.95 PASS BaseQRankSum=-0.032;DP=120;Dels=0.00;FS=6.990;HRun=0;HaplotypeScore=8.6664;MQ=57;MQ0=0;MQRankSum=-1.258;QD=13.73;ReadPosRankSum=-2.505;SB=-1020.26;TI=NM_002293;GI=LAMC1;FC=Synonymous_N837N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,67:120:99:1678,0,1408:57:99:0.558 chr1 183094547 rs20558 T C 2292.93 PASS BaseQRankSum=0.944;DP=170;Dels=0.00;FS=7.853;HRun=1;HaplotypeScore=5.3371;MQ=55;MQ0=0;MQRankSum=1.776;QD=13.49;ReadPosRankSum=0.957;SB=-1539.44;TI=NM_002293;GI=LAMC1;FC=Missense_L888P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,97:170:99:2323,0,1706:55:99:0.571 chr1 183105534 rs20560 T C 1247.74 PASS BaseQRankSum=-0.210;DP=107;Dels=0.00;FS=2.566;HRun=0;HaplotypeScore=6.4700;MQ=56;MQ0=0;MQRankSum=1.164;QD=11.66;ReadPosRankSum=-1.132;SB=-677.40;TI=NM_002293;GI=LAMC1;FC=Synonymous_R1376R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,47:107:99:1278,0,1513:56:99:0.443 chr1 183105705 rs20561 G A 1381.19 PASS BaseQRankSum=2.314;DP=111;Dels=0.00;FS=6.128;HRun=1;HaplotypeScore=2.7819;MQ=51;MQ0=0;MQRankSum=1.209;QD=12.44;ReadPosRankSum=-1.817;SB=-538.13;TI=NM_002293;GI=LAMC1;FC=Synonymous_A1433A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,52:111:99:1411,0,1396:51:99:0.468 chr1 183184690 rs11586699 C T 1354.78 PASS BaseQRankSum=1.658;DP=133;Dels=0.00;FS=4.212;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.017;QD=10.19;ReadPosRankSum=0.165;SB=-929.79;TI=NM_018891,NM_005562;GI=LAMC2,LAMC2;FC=Missense_T124M,Missense_T124M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,62:133:99:1385,0,1713:53:99:0.466 chr1 183532580 rs17849502 G T 3052.03 PASS BaseQRankSum=-0.474;DP=235;Dels=0.00;FS=1.014;HRun=1;HaplotypeScore=12.7399;MQ=54;MQ0=0;MQRankSum=1.169;QD=12.99;ReadPosRankSum=1.578;SB=-2005.13;TI=NM_001190794,NM_001190789,NM_000433,NM_001127651;GI=NCF2,NCF2,NCF2,NCF2;FC=Missense_H344Q,Missense_H308Q,Missense_H389Q,Missense_H389Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,123:235:99:3082,0,2828:54:99:0.523 chr1 183542323 rs17849501 C T 566.67 PASS BaseQRankSum=0.969;DP=57;Dels=0.00;FS=1.029;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=0.601;QD=9.94;ReadPosRankSum=0.360;SB=-289.68;TI=NM_001190794,NM_001190789,NM_000433,NM_001127651;GI=NCF2,NCF2,NCF2,NCF2;FC=Synonymous_A157A,Silent,Synonymous_A202A,Synonymous_A202A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,26:57:99:597,0,757:53:99:0.456 chr1 183542387 rs2274064 T C 2267.80 PASS DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4137;MQ=51;MQ0=0;QD=27.00;SB=-1473.73;TI=NM_001190794,NM_001190789,NM_000433,NM_001127651;GI=NCF2,NCF2,NCF2,NCF2;FC=Missense_K136R,Silent,Missense_K181R,Missense_K181R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2301,166,0:51:99:1.000 chr1 185984517 rs6665753 T C 658.91 PASS BaseQRankSum=0.266;DP=48;Dels=0.00;FS=2.536;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=0.415;QD=13.73;ReadPosRankSum=-0.969;SB=-414.57;TI=NM_031935;GI=HMCN1;FC=Synonymous_H1619H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,30:48:99:689,0,385:56:99:0.625 chr1 185987339 . T A 1365.32 PASS BaseQRankSum=1.626;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-1.626;QD=13.26;ReadPosRankSum=-1.426;SB=-981.55;TI=NM_031935;GI=HMCN1;FC=Synonymous_I1775I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,58:103:99:1395,0,1008:52:99:0.563 chr1 186010251 . T A 1882.34 PASS BaseQRankSum=0.041;DP=184;Dels=0.00;FS=2.621;HRun=1;HaplotypeScore=10.1242;MQ=54;MQ0=1;MQRankSum=2.883;QD=10.23;ReadPosRankSum=-0.793;SB=-1257.99;TI=NM_031935;GI=HMCN1;FC=Missense_I2096N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,83:184:99:1912,0,2365:54:99:0.451 chr1 186026474 rs12129650 T C 2277.31 PASS BaseQRankSum=2.781;DP=161;Dels=0.00;FS=1.983;HRun=0;HaplotypeScore=4.4430;MQ=54;MQ0=0;MQRankSum=0.347;QD=14.14;ReadPosRankSum=1.045;SB=-1297.31;TI=NM_031935;GI=HMCN1;FC=Missense_I2418T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,86:161:99:2307,0,2027:54:99:0.534 chr1 186031041 rs7522627 C T 1314.56 PASS BaseQRankSum=0.419;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.506;QD=9.74;ReadPosRankSum=1.275;SB=-783.81;TI=NM_031935,NR_031642;GI=HMCN1,MIR548F1;FC=Synonymous_C2457C,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,59:135:99:1345,0,1877:55:99:0.437 chr1 186050417 rs10798035 A G 1306.45 PASS BaseQRankSum=0.466;DP=137;Dels=0.00;FS=5.482;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=-0.085;QD=9.54;ReadPosRankSum=-1.026;SB=-892.20;TI=NM_031935,NR_031642;GI=HMCN1,MIR548F1;FC=Missense_E2893G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,60:137:99:1336,0,2282:54:99:0.438 chr1 186052024 rs74967568 G A 1424.58 PASS BaseQRankSum=0.252;DP=99;Dels=0.00;FS=0.769;HRun=0;HaplotypeScore=3.7876;MQ=51;MQ0=0;MQRankSum=0.117;QD=14.39;ReadPosRankSum=-1.801;SB=-984.20;TI=NM_031935,NR_031642;GI=HMCN1,MIR548F1;FC=Missense_G2939S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,58:99:99:1455,0,904:51:99:0.586 chr1 186055371 rs6425017 A G 1125.32 PASS BaseQRankSum=1.289;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7878;MQ=57;MQ0=0;MQRankSum=-1.088;QD=10.82;ReadPosRankSum=-0.020;SB=-638.64;TI=NM_031935,NR_031642;GI=HMCN1,MIR548F1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,49:104:99:1155,0,1284:57:99:0.471 chr1 186092076 rs2057388 A C 733.54 PASS BaseQRankSum=2.329;DP=66;Dels=0.00;FS=1.182;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=-1.239;QD=11.11;ReadPosRankSum=-0.590;SB=-239.83;TI=NM_031935,NR_031642;GI=HMCN1,MIR548F1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,28:66:99:764,0,1032:59:99:0.424 chr1 186101539 rs10911825 A G 2169.18 PASS BaseQRankSum=1.670;DP=207;Dels=0.00;FS=2.405;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=2.267;QD=10.48;ReadPosRankSum=-0.452;SB=-1383.59;TI=NM_031935,NR_031642;GI=HMCN1,MIR548F1;FC=Missense_Q4437R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,98:207:99:2199,0,2487:52:99:0.473 chr1 186280690 . A AT 1360.08 PASS BaseQRankSum=-1.170;DP=71;FS=2.015;HRun=1;HaplotypeScore=29.5570;MQ=56;MQ0=0;MQRankSum=2.046;QD=19.16;ReadPosRankSum=-0.133;SB=-634.20;TI=NR_031642,NM_001127709,NM_001127708,NM_001127710,NM_005807;GI=MIR548F1,PRG4,PRG4,PRG4,PRG4;FC=Noncoding,Frameshift,Frameshift,Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,38:71:99:1399,0,1187:56:99:0.535 chr1 186946912 rs2307198 G A 3569.58 PASS DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8939;MQ=53;MQ0=0;QD=26.44;SB=-2188.81;TI=NM_024420;GI=PLA2G4A;FC=Missense_R651K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,135:135:99:3570,253,0:53:99:1.000 chr1 193051685 rs2275444 G A 770.78 PASS BaseQRankSum=0.770;DP=76;Dels=0.00;FS=0.885;HRun=2;HaplotypeScore=3.5764;MQ=57;MQ0=0;MQRankSum=0.685;QD=10.14;ReadPosRankSum=1.227;SB=-564.71;TI=NR_033393,NM_001173524,NM_004600,NM_001042370,NM_001042369,NM_001173525;GI=TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,35:75:99:801,0,1004:57:99:0.467 chr1 196642233 rs800292 G A 2216.37 PASS BaseQRankSum=3.366;DP=208;Dels=0.00;FS=1.110;HRun=0;HaplotypeScore=8.1678;MQ=55;MQ0=0;MQRankSum=1.858;QD=10.66;ReadPosRankSum=0.685;SB=-1239.82;TI=NM_001014975,NM_000186;GI=CFH,CFH;FC=Missense_V62I,Missense_V62I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,83:208:99:2246,0,3471:55:99:0.399 chr1 196654324 rs1061147 A C 2705.98 PASS DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=52;MQ0=0;QD=28.19;SB=-1725.10;TI=NM_001014975,NM_000186;GI=CFH,CFH;FC=Synonymous_A307A,Synonymous_A307A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:96:99:2739,196,0:52:99:1.000 chr1 196659237 rs1061170 C T 3371.72 PASS DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7723;MQ=56;MQ0=0;QD=27.19;SB=-2346.97;TI=NM_001014975,NM_000186;GI=CFH,CFH;FC=Missense_H402Y,Missense_H402Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:124:99:3372,238,0:56:99:1.000 chr1 196682947 rs2274700 G A 3675.94 PASS DP=127;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=8.1186;MQ=55;MQ0=0;QD=28.94;SB=-2380.99;TI=NM_000186;GI=CFH;FC=Synonymous_A473A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:3676,268,0:55:99:1.000 chr1 196801078 rs414628;rs61743621 A T 14.58 LowGQX;LowGQ;LowDP DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=15;MQ0=3;QD=2.92;SB=-27.67;TI=NM_002113;GI=CFHR1;FC=Synonymous_R314R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,2:5:3.01:44,3,0:15:3:0.400 chr1 196874356 rs10801578 G T 3601.17 PASS DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=3;QD=29.28;SB=-2072.88;TI=NM_006684;GI=CFHR4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:3601,262,0:53:99:1.000 chr1 196876458 rs7417769 A G 534.37 PASS BaseQRankSum=0.770;DP=45;Dels=0.00;FS=2.555;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=0.540;QD=11.87;ReadPosRankSum=0.126;SB=-285.04;TI=NM_006684;GI=CFHR4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,19:45:99:564,0,739:58:99:0.422 chr1 196920148 rs4085749 C T 1210.22 PASS BaseQRankSum=1.897;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=0.844;QD=13.60;ReadPosRankSum=0.432;SB=-567.79;TI=NM_005666;GI=CFHR2;FC=Synonymous_C140C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,48:89:99:1240,0,1083:56:99:0.539 chr1 196964841 . T A 745.27 PASS BaseQRankSum=-0.060;DP=74;Dels=0.00;FS=0.912;HRun=2;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=0.244;QD=10.07;ReadPosRankSum=-1.990;SB=-390.50;TI=NM_030787;GI=CFHR5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,34:74:99:775,0,952:55:99:0.459 chr1 197009798 rs5998 A G 1895.70 PASS BaseQRankSum=-0.851;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5420;MQ=54;MQ0=0;MQRankSum=1.723;QD=11.85;ReadPosRankSum=-0.844;SB=-1284.83;TI=NM_001994;GI=F13B;FC=Synonymous_N602N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,84:160:99:1926,0,1903:54:99:0.528 chr1 197019858 rs6000 A C 1213.97 PASS BaseQRankSum=0.485;DP=125;Dels=0.00;FS=4.332;HRun=2;HaplotypeScore=8.4695;MQ=51;MQ0=0;MQRankSum=1.256;QD=9.71;ReadPosRankSum=-0.032;SB=-676.23;TI=NM_001994;GI=F13B;FC=Missense_D569E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,55:125:99:1244,0,1544:51:99:0.440 chr1 197019979 rs17549671 A G 1283.38 PASS BaseQRankSum=0.318;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8938;MQ=55;MQ0=0;MQRankSum=0.512;QD=11.77;ReadPosRankSum=-2.513;SB=-855.66;TI=NM_001994;GI=F13B;FC=Missense_L529P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,56:109:99:1313,0,1233:55:99:0.514 chr1 197026265 rs5999 T C 1976.97 PASS BaseQRankSum=1.516;DP=154;Dels=0.00;FS=0.603;HRun=0;HaplotypeScore=9.1253;MQ=54;MQ0=0;MQRankSum=1.509;QD=12.84;ReadPosRankSum=-0.579;SB=-1140.01;TI=NM_001994;GI=F13B;FC=Missense_H350R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,81:154:99:2007,0,1792:54:99:0.526 chr1 197030201 rs5997 T C 2302.59 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=27.74;SB=-1411.51;TI=NM_001994;GI=F13B;FC=Synonymous_T152T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2336,166,0:59:99:1.000 chr1 197031021 rs6003 C T 2854.19 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;QD=26.93;SB=-2093.01;TI=NM_001994;GI=F13B;FC=Missense_R115H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2887,205,0:51:99:1.000 chr1 197053561 . T TA 134.20 R8 BaseQRankSum=1.551;DP=61;FS=0.000;HRun=15;HaplotypeScore=211.0896;MQ=54;MQ0=0;MQRankSum=-0.717;QD=2.20;ReadPosRankSum=0.032;SB=-88.30;TI=NM_018136;GI=ASPM;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,14:61:99:173,0,450:54:99:0.275 chr1 197055925 rs10754213 T C 1903.33 PASS DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=29.28;SB=-1113.17;TI=NM_018136;GI=ASPM;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:1936,138,0:53:99:1.000 chr1 197059382 rs7528827 T C 1203.67 PASS BaseQRankSum=0.024;DP=110;Dels=0.00;FS=3.563;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=1.612;QD=10.94;ReadPosRankSum=-1.089;SB=-656.03;TI=NM_018136;GI=ASPM;FC=Missense_H3258R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,49:110:99:1234,0,1456:52:99:0.445 chr1 197070594 rs79572771 A G 4518.25 PASS BaseQRankSum=3.892;DP=357;Dels=0.00;FS=3.474;HRun=0;HaplotypeScore=22.8827;MQ=57;MQ0=0;MQRankSum=2.081;QD=12.66;ReadPosRankSum=0.066;SB=-2172.39;TI=NM_018136;GI=ASPM;FC=Missense_V2596A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:195,162:357:99:4518,0,5024:57:99:0.454 chr1 197070776 rs10922162 C T 3932.68 PASS BaseQRankSum=2.689;DP=287;Dels=0.00;FS=7.247;HRun=0;HaplotypeScore=5.4702;MQ=57;MQ0=0;MQRankSum=1.507;QD=13.70;ReadPosRankSum=0.702;SB=-1963.11;TI=NM_018136;GI=ASPM;FC=Synonymous_V2535V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:144,143:287:99:3933,0,3924:57:99:0.498 chr1 197070815 rs1412640 T C 8253.97 PASS DP=269;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6793;MQ=58;MQ0=0;QD=30.68;SB=-4601.05;TI=NM_018136;GI=ASPM;FC=Synonymous_L2522L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,268:269:99:8254,599,0:58:99:1.000 chr1 197070901 rs964201 A G 10355.56 PASS DP=343;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4574;MQ=56;MQ0=0;QD=30.19;SB=-6318.67;TI=NM_018136;GI=ASPM;FC=Missense_Y2494H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,343:343:99:10356,761,0:56:99:1.000 chr1 197072560 rs61249253 A G 7018.98 PASS BaseQRankSum=4.037;DP=532;Dels=0.00;FS=6.958;HRun=0;HaplotypeScore=11.8853;MQ=57;MQ0=0;MQRankSum=3.277;QD=13.19;ReadPosRankSum=1.016;SB=-2687.94;TI=NM_018136;GI=ASPM;FC=Missense_C1941R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:277,255:532:99:7019,0,7239:57:99:0.479 chr1 197072802 rs77138363 G A 5796.54 PASS BaseQRankSum=2.204;DP=353;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.5734;MQ=57;MQ0=0;MQRankSum=1.890;QD=16.42;ReadPosRankSum=0.903;SB=-2139.78;TI=NM_018136;GI=ASPM;FC=Missense_A1860V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:158,195:353:99:5797,0,4471:57:99:0.552 chr1 197073298 rs80238010 G A 2074.08 PASS BaseQRankSum=0.489;DP=133;Dels=0.00;FS=4.402;HRun=0;HaplotypeScore=7.2453;MQ=59;MQ0=0;MQRankSum=-0.735;QD=15.59;ReadPosRankSum=0.931;SB=-656.58;TI=NM_018136;GI=ASPM;FC=Missense_R1695C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,68:133:99:2104,0,1833:59:99:0.515 chr1 197073318 rs62624968 G A 2105.87 PASS BaseQRankSum=0.856;DP=152;Dels=0.00;FS=1.303;HRun=1;HaplotypeScore=4.6636;MQ=59;MQ0=0;MQRankSum=-1.117;QD=13.85;ReadPosRankSum=0.361;SB=-1084.42;TI=NM_018136;GI=ASPM;FC=Missense_T1688I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,79:152:99:2136,0,1889:59:99:0.520 chr1 197087072 rs56912014 G T 2471.22 PASS BaseQRankSum=0.068;DP=199;Dels=0.00;FS=1.760;HRun=2;HaplotypeScore=4.4704;MQ=55;MQ0=0;MQRankSum=4.071;QD=12.42;ReadPosRankSum=0.642;SB=-1460.67;TI=NM_018136;GI=ASPM;FC=Synonymous_I1304I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,103:199:99:2501,0,2444:55:99:0.518 chr1 197091537 rs4915337 A T 4283.50 PASS DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5711;MQ=59;MQ0=0;QD=31.97;SB=-1515.47;TI=NM_018136;GI=ASPM;FC=Synonymous_S1193S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:134:99:4283,313,0:59:99:1.000 chr1 197102592 rs35897746 T C 1574.62 PASS BaseQRankSum=0.259;DP=117;Dels=0.00;FS=6.382;HRun=0;HaplotypeScore=5.3440;MQ=53;MQ0=0;MQRankSum=1.187;QD=13.46;ReadPosRankSum=-0.838;SB=-511.51;TI=NM_018136;GI=ASPM;FC=Synonymous_A769A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,61:117:99:1605,0,1246:53:99:0.521 chr1 197112094 rs6428388 T C 3077.39 PASS BaseQRankSum=2.712;DP=249;Dels=0.00;FS=2.267;HRun=2;HaplotypeScore=9.9623;MQ=56;MQ0=0;MQRankSum=1.438;QD=12.36;ReadPosRankSum=0.846;SB=-1217.22;TI=NM_018136;GI=ASPM;FC=Missense_R430G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:135,113:249:99:3107,0,3535:56:99:0.456 chr1 197112533 rs6677082 G A 3311.00 PASS BaseQRankSum=1.898;DP=254;Dels=0.00;FS=2.787;HRun=0;HaplotypeScore=3.7875;MQ=56;MQ0=0;MQRankSum=-0.013;QD=13.04;ReadPosRankSum=-1.962;SB=-2167.24;TI=NM_018136;GI=ASPM;FC=Synonymous_S283S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,136:254:99:3311,0,2984:56:99:0.535 chr1 197128592 . T A 1308.54 PASS BaseQRankSum=0.020;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6531;MQ=56;MQ0=0;MQRankSum=0.869;QD=10.55;ReadPosRankSum=-1.470;SB=-561.83;TI=NM_194314;GI=ZBTB41;FC=Missense_E876V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,53:124:99:1339,0,1783:56:99:0.427 chr1 197128726 rs12128631 G A 2144.32 PASS BaseQRankSum=-0.096;DP=158;Dels=0.00;FS=3.702;HRun=1;HaplotypeScore=5.4869;MQ=54;MQ0=0;MQRankSum=3.045;QD=13.57;ReadPosRankSum=-0.656;SB=-1197.15;TI=NM_194314;GI=ZBTB41;FC=Synonymous_L831L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,80:158:99:2174,0,1874:54:99:0.506 chr1 197390368 rs3902057 A G 6965.81 PASS DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4428;MQ=56;MQ0=0;QD=30.96;SB=-4263.88;TI=NM_001193640,NM_201253;GI=CRB1,CRB1;FC=Synonymous_L358L,Synonymous_L470L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,225:225:99:6966,506,0:56:99:1.000 chr1 198725169 rs1058191 T C 3119.14 PASS BaseQRankSum=0.269;DP=304;Dels=0.00;FS=3.208;HRun=0;HaplotypeScore=9.1692;MQ=54;MQ0=0;MQRankSum=2.499;QD=10.26;ReadPosRankSum=-1.515;SB=-1514.69;TI=NM_080921,NM_002838;GI=PTPRC,PTPRC;FC=Synonymous_N1097N,Synonymous_N1258N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:181,123:304:99:3149,0,4344:54:99:0.405 chr1 201009182 rs12139527 A G 1792.57 PASS BaseQRankSum=0.795;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.2107;MQ=57;MQ0=0;MQRankSum=0.822;QD=13.48;ReadPosRankSum=1.698;SB=-938.54;TI=NM_000069;GI=CACNA1S;FC=Missense_L1800S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,73:133:99:1823,0,1489:57:99:0.557 chr1 201016646 rs2297905 C T 766.90 PASS BaseQRankSum=-1.264;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6689;MQ=51;MQ0=0;MQRankSum=3.849;QD=12.57;ReadPosRankSum=0.729;SB=-430.14;TI=NM_000069;GI=CACNA1S;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,32:61:99:797,0,618:51:99:0.525 chr1 201020105 rs6702590 A G 598.27 PASS BaseQRankSum=0.377;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5180;MQ=56;MQ0=0;MQRankSum=0.126;QD=13.29;ReadPosRankSum=-0.308;SB=-373.10;TI=NM_000069;GI=CACNA1S;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,25:45:99:628,0,457:56:99:0.556 chr1 201038687 rs7415038 A G 2551.60 PASS DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=26.04;SB=-1848.75;TI=NM_000069;GI=CACNA1S;FC=Synonymous_F801F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:98:99:2585,184,0:52:99:1.000 chr1 201043702 rs16847664 G A 1453.60 PASS BaseQRankSum=0.936;DP=125;Dels=0.00;FS=0.657;HRun=0;HaplotypeScore=1.8939;MQ=54;MQ0=0;MQRankSum=1.020;QD=11.63;ReadPosRankSum=0.175;SB=-998.11;TI=NM_000069;GI=CACNA1S;FC=Synonymous_A665A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,62:125:99:1484,0,1364:54:99:0.496 chr1 201044748 rs1998721 A G 1644.20 PASS DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;QD=24.54;SB=-1158.79;TI=NM_000069;GI=CACNA1S;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:67:99:1677,120,0:50:99:1.000 chr1 201047075 rs4915477 A G 2242.40 PASS DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=51;MQ0=0;QD=27.35;SB=-1214.92;TI=NM_000069;GI=CACNA1S;FC=Synonymous_G517G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2275,166,0:51:99:1.000 chr1 201047078 rs16847669 C T 1105.31 PASS BaseQRankSum=0.799;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=51;MQ0=0;MQRankSum=-0.649;QD=13.48;ReadPosRankSum=1.864;SB=-589.36;TI=NM_000069;GI=CACNA1S;FC=Synonymous_S516S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,46:82:99:1135,0,874:51:99:0.561 chr1 201047111 rs9427714 A G 1077.57 PASS BaseQRankSum=-0.495;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8936;MQ=50;MQ0=0;MQRankSum=0.588;QD=9.62;ReadPosRankSum=-0.354;SB=-721.80;TI=NM_000069;GI=CACNA1S;FC=Synonymous_C505C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,50:112:99:1108,0,1513:50:99:0.446 chr1 201052310 rs12742169 A T 796.26 PASS BaseQRankSum=-1.301;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7440;MQ=58;MQ0=0;MQRankSum=-0.098;QD=11.71;ReadPosRankSum=-2.466;SB=-282.91;TI=NM_000069;GI=CACNA1S;FC=Missense_L458H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,33:68:99:826,0,939:58:99:0.485 chr1 201052312 rs12742170 A C 829.38 PASS BaseQRankSum=0.330;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6381;MQ=58;MQ0=0;MQRankSum=0.702;QD=12.02;ReadPosRankSum=-2.827;SB=-319.59;TI=NM_000069;GI=CACNA1S;FC=Synonymous_P457P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,34:69:99:859,0,976:58:99:0.493 chr1 201060865 rs2296383 G A 1073.94 PASS BaseQRankSum=0.294;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.1237;MQ=55;MQ0=0;MQRankSum=2.268;QD=15.34;ReadPosRankSum=1.201;SB=-757.34;TI=NM_000069;GI=CACNA1S;FC=Synonymous_I199I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,45:70:99:1104,0,537:55:99:0.643 chr1 201112981 rs8158 A G 3800.32 PASS DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7014;MQ=50;MQ0=0;QD=27.94;SB=-2256.07;TI=NM_016456;GI=TMEM9;FC=Synonymous_Y122Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,136:136:99:3800,274,0:50:99:1.000 chr1 201263130 . A G 1342.07 PASS BaseQRankSum=2.070;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3643;MQ=52;MQ0=0;MQRankSum=2.059;QD=10.91;ReadPosRankSum=-1.064;SB=-826.47;TI=NM_000299,NM_001005337;GI=PKP1,PKP1;FC=Missense_Y88C,Missense_Y88C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,54:123:99:1372,0,1610:52:99:0.443 chr1 201285759 rs1779297 A G 2347.13 PASS DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.67;SB=-1506.13;TI=NM_000299,NM_001005337;GI=PKP1,PKP1;FC=Synonymous_K260K,Synonymous_K260K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2380,172,0:53:99:1.000 chr1 201286771 rs1722779 C T 577.11 PASS BaseQRankSum=0.997;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=0.482;QD=8.49;ReadPosRankSum=0.376;SB=-279.23;TI=NM_000299,NM_001005337;GI=PKP1,PKP1;FC=Synonymous_A306A,Synonymous_A306A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,23:68:99:607,0,1173:55:99:0.343 chr1 201331240 rs11810834 C T 949.22 PASS BaseQRankSum=1.865;DP=90;Dels=0.00;FS=0.832;HRun=0;HaplotypeScore=7.3666;MQ=55;MQ0=0;MQRankSum=0.765;QD=10.55;ReadPosRankSum=0.643;SB=-426.17;TI=NM_001001430,NM_000364,NM_001001432,NM_001001431;GI=TNNT2,TNNT2,TNNT2,TNNT2;FC=Missense_A192T,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,39:90:99:979,0,1372:55:99:0.433 chr1 201334382 rs3729547 G A 1346.24 PASS BaseQRankSum=1.308;DP=165;Dels=0.00;FS=7.234;HRun=1;HaplotypeScore=10.2385;MQ=54;MQ0=0;MQRankSum=2.425;QD=8.16;ReadPosRankSum=-0.667;SB=-633.03;TI=NM_001001430,NM_000364,NM_001001432,NM_001001431;GI=TNNT2,TNNT2,TNNT2,TNNT2;FC=Synonymous_I106I,Synonymous_I116I,Synonymous_I101I,Synonymous_I106I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,61:165:99:1376,0,2383:54:99:0.370 chr1 201341175 rs45533739 CAGAAG C 4879.72 PASS BaseQRankSum=1.104;DP=197;FS=4.404;HRun=0;HaplotypeScore=108.6670;MQ=52;MQ0=0;MQRankSum=0.339;QD=24.77;ReadPosRankSum=0.282;SB=-1962.60;TI=NM_001001430,NM_000364,NM_001001432,NM_001001431;GI=TNNT2,TNNT2,TNNT2,TNNT2;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,71:197:99:4880,0,8129:52:99:0.362 chr1 202569555 rs907699 C T 3091.04 PASS BaseQRankSum=0.828;DP=205;Dels=0.00;FS=0.537;HRun=0;HaplotypeScore=7.3601;MQ=55;MQ0=0;MQRankSum=-1.585;QD=15.08;ReadPosRankSum=0.491;SB=-1712.61;TI=NM_001136504,NM_177402;GI=SYT2,SYT2;FC=Synonymous_T283T,Synonymous_T283T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,127:205:99:3121,0,1964:55:99:0.620 chr1 202574784 rs1968583 G A 2265.33 PASS BaseQRankSum=2.470;DP=199;Dels=0.00;FS=2.546;HRun=0;HaplotypeScore=9.3366;MQ=54;MQ0=0;MQRankSum=-1.603;QD=11.38;ReadPosRankSum=1.046;SB=-1338.55;TI=NM_001136504,NM_177402;GI=SYT2,SYT2;FC=Synonymous_S39S,Synonymous_S39S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,95:199:99:2295,0,2588:54:99:0.477 chr1 202911267 . G C 2195.27 PASS BaseQRankSum=1.001;DP=175;Dels=0.00;FS=0.564;HRun=0;HaplotypeScore=4.5487;MQ=54;MQ0=0;MQRankSum=-0.416;QD=12.54;ReadPosRankSum=-0.187;SB=-1219.01;TI=NM_015999,NM_001127687;GI=ADIPOR1,ADIPOR1;FC=Synonymous_T295T,Synonymous_T295T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,88:175:99:2225,0,2159:54:99:0.503 chr1 203098275 rs10920568 T G 3465.68 PASS BaseQRankSum=2.456;DP=249;Dels=0.00;FS=0.468;HRun=1;HaplotypeScore=7.2036;MQ=54;MQ0=0;MQRankSum=0.740;QD=13.92;ReadPosRankSum=-3.784;SB=-2075.89;TI=NM_000674,NM_001048230;GI=ADORA1,ADORA1;FC=Synonymous_A102A,Synonymous_A102A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,137:249:99:3466,0,2566:54:99:0.550 chr1 203148633 rs4950927 A G 4437.21 PASS DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.3640;MQ=52;MQ0=0;QD=26.10;SB=-3103.26;TI=NM_001276;GI=CHI3L1;FC=Synonymous_C364C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:170:99:4437,316,0:52:99:1.000 chr1 203152801 rs880633 T C 925.32 PASS BaseQRankSum=0.629;DP=72;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5381;MQ=55;MQ0=0;MQRankSum=0.890;QD=12.85;ReadPosRankSum=0.142;SB=-424.59;TI=NM_001276;GI=CHI3L1;FC=Missense_R145G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,40:72:99:955,0,662:55:99:0.556 chr1 203185483 rs73066394 A C 3937.52 PASS BaseQRankSum=0.969;DP=278;Dels=0.00;FS=1.437;HRun=0;HaplotypeScore=11.2441;MQ=57;MQ0=0;MQRankSum=0.103;QD=14.16;ReadPosRankSum=-0.412;SB=-2095.43;TI=NM_003465;GI=CHIT1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:135,143:278:99:3938,0,3537:57:99:0.514 chr1 203652444 rs1419114 A G 2187.73 PASS BaseQRankSum=0.720;DP=208;Dels=0.00;FS=3.170;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=2.510;QD=10.52;ReadPosRankSum=0.446;SB=-1189.71;TI=NM_001001396,NM_001684;GI=ATP2B4,ATP2B4;FC=Synonymous_S37S,Synonymous_S37S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,91:208:99:2218,0,2796:51:99:0.438 chr1 203667311 . G A 949.78 PASS BaseQRankSum=1.533;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.156;QD=16.66;ReadPosRankSum=-1.418;SB=-388.26;TI=NM_001001396,NM_001684;GI=ATP2B4,ATP2B4;FC=Missense_E74K,Missense_E74K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,35:57:99:980,0,597:57:99:0.614 chr1 203667409 rs2228445 T C 867.90 PASS BaseQRankSum=0.583;DP=69;Dels=0.00;FS=6.790;HRun=0;HaplotypeScore=1.7608;MQ=56;MQ0=0;MQRankSum=1.399;QD=12.58;ReadPosRankSum=0.727;SB=-257.04;TI=NM_001001396,NM_001684;GI=ATP2B4,ATP2B4;FC=Synonymous_L106L,Synonymous_L106L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,33:69:99:898,0,856:56:99:0.478 chr1 204128567 rs11571117 C T 1519.57 PASS BaseQRankSum=-1.360;DP=153;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.1630;MQ=51;MQ0=0;MQRankSum=1.654;QD=9.93;ReadPosRankSum=-2.388;SB=-1055.52;TI=NM_000537;GI=REN;FC=Missense_G217R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,68:153:99:1550,0,2048:51:99:0.444 chr1 204131186 rs5705 T G 640.56 PASS BaseQRankSum=3.240;DP=78;Dels=0.00;FS=0.894;HRun=1;HaplotypeScore=4.4430;MQ=54;MQ0=0;MQRankSum=1.197;QD=8.21;ReadPosRankSum=3.733;SB=-382.24;TI=NM_000537;GI=REN;FC=Synonymous_T68T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,30:78:99:671,0,1232:54:99:0.385 chr1 205884188 rs9438399 G T 1631.71 PASS BaseQRankSum=0.511;DP=141;Dels=0.00;FS=1.345;HRun=0;HaplotypeScore=15.8514;MQ=54;MQ0=0;MQRankSum=2.120;QD=11.57;ReadPosRankSum=1.424;SB=-1040.17;TI=NM_134325,NM_052934;GI=SLC26A9,SLC26A9;FC=Synonymous_T832T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,68:141:99:1662,0,1786:54:99:0.486 chr1 205884274 rs6669481 T C 2407.39 PASS BaseQRankSum=1.556;DP=181;Dels=0.00;FS=1.856;HRun=2;HaplotypeScore=10.8857;MQ=52;MQ0=0;MQRankSum=2.578;QD=13.30;ReadPosRankSum=1.409;SB=-1289.01;TI=NM_134325,NM_052934;GI=SLC26A9,SLC26A9;FC=Missense_R804G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,91:181:99:2437,0,2258:52:99:0.503 chr1 205887981 rs16856462 T C 653.18 PASS BaseQRankSum=-0.975;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=54;MQ0=0;MQRankSum=2.000;QD=10.71;ReadPosRankSum=-0.802;SB=-349.60;TI=NM_134325,NM_052934;GI=SLC26A9,SLC26A9;FC=Missense_H748R,Missense_H748R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,29:61:99:683,0,727:54:99:0.475 chr1 206224830 rs36046834 G C 1844.12 PASS BaseQRankSum=1.983;DP=155;Dels=0.00;FS=1.337;HRun=0;HaplotypeScore=7.2199;MQ=57;MQ0=0;MQRankSum=3.144;QD=11.90;ReadPosRankSum=0.243;SB=-782.72;TI=NM_000707;GI=AVPR1B;FC=Synonymous_L130L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,70:155:99:1874,0,2310:57:99:0.452 chr1 206225011 rs33990840 G C 2209.39 PASS BaseQRankSum=1.407;DP=168;Dels=0.00;FS=1.210;HRun=1;HaplotypeScore=6.2821;MQ=58;MQ0=0;MQRankSum=-0.306;QD=13.15;ReadPosRankSum=0.967;SB=-1136.74;TI=NM_000707;GI=AVPR1B;FC=Missense_G191R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,75:168:99:2239,0,2674:58:99:0.446 chr1 206230986 rs28676508 G A 2106.93 PASS BaseQRankSum=1.058;DP=143;Dels=0.00;FS=7.525;HRun=1;HaplotypeScore=4.4928;MQ=57;MQ0=0;MQRankSum=0.022;QD=14.73;ReadPosRankSum=-0.419;SB=-1007.70;TI=NM_000707;GI=AVPR1B;FC=Synonymous_S373S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,76:143:99:2137,0,1794:57:99:0.531 chr1 206516261 rs1769156 C T 583.01 PASS BaseQRankSum=0.393;DP=156;Dels=0.00;FS=2.332;HRun=0;HaplotypeScore=1.7333;MQ=22;MQ0=98;MQRankSum=1.570;QD=3.74;ReadPosRankSum=-0.236;SB=-260.52;TI=NM_001042758,NM_015326,NM_001170637;GI=SRGAP2,SRGAP2,SRGAP2;FC=Missense_A21V,Missense_A21V,Missense_A21V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,55:156:99:613,0,735:22:99:0.353 chr1 206566904 rs2919105 T C 795.93 PASS BaseQRankSum=1.528;DP=111;Dels=0.00;FS=1.735;HRun=1;HaplotypeScore=8.1251;MQ=50;MQ0=4;MQRankSum=-2.871;QD=7.17;ReadPosRankSum=-0.655;SB=-410.82;TI=NM_001042758,NM_015326,NM_001170637;GI=SRGAP2,SRGAP2,SRGAP2;FC=Missense_S149P,Missense_S149P,Missense_S149P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,44:111:99:826,0,1514:50:99:0.400 chr1 206579798 rs2580438 T C 377.81 SB BaseQRankSum=0.063;DP=346;Dels=0.00;FS=20.739;HRun=0;HaplotypeScore=6.2675;MQ=9;MQ0=265;MQRankSum=1.175;QD=1.09;ReadPosRankSum=1.968;SB=-0.01;TI=NM_001042758,NM_015326,NM_001170637;GI=SRGAP2,SRGAP2,SRGAP2;FC=Missense_X321R,Missense_X321R,Missense_X320R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:161,183:346:99:408,0,274:9:99:0.532 chr1 206579936 rs2772061 A G 1119.68 PASS BaseQRankSum=2.176;DP=473;Dels=0.00;FS=5.252;HRun=0;HaplotypeScore=12.5980;MQ=23;MQ0=200;MQRankSum=-2.072;QD=2.37;ReadPosRankSum=1.722;SB=-436.38;TI=NM_001042758,NM_015326,NM_001170637;GI=SRGAP2,SRGAP2,SRGAP2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:352,120:473:99:1150,0,3845:23:99:0.254 chr1 206603535 rs2297539 G A 2575.45 PASS BaseQRankSum=2.369;DP=195;Dels=0.00;FS=1.114;HRun=0;HaplotypeScore=8.0468;MQ=57;MQ0=0;MQRankSum=0.151;QD=13.21;ReadPosRankSum=-0.489;SB=-1600.58;TI=NM_001042758,NM_015326,NM_001170637;GI=SRGAP2,SRGAP2,SRGAP2;FC=Missense_G420S,Missense_G420S,Missense_G419S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,97:195:99:2605,0,2549:57:99:0.497 chr1 207015957 rs2243191 T C 1067.05 PASS BaseQRankSum=0.711;DP=108;Dels=0.00;FS=0.735;HRun=1;HaplotypeScore=9.0167;MQ=54;MQ0=0;MQRankSum=0.811;QD=9.88;ReadPosRankSum=-1.168;SB=-688.89;TI=NM_153758,NM_013371;GI=IL19,IL19;FC=Missense_F213S,Missense_F175S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,48:108:99:1097,0,1417:54:99:0.449 chr1 207106444 rs172361 A G 2519.48 PASS BaseQRankSum=2.578;DP=211;Dels=0.00;FS=3.147;HRun=1;HaplotypeScore=10.3074;MQ=54;MQ0=0;MQRankSum=0.686;QD=11.94;ReadPosRankSum=1.194;SB=-1565.14;TI=NM_002644;GI=PIGR;FC=Synonymous_F591F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,112:211:99:2549,0,2212:54:99:0.533 chr1 207106478 rs291102 G A 2627.57 PASS BaseQRankSum=3.552;DP=204;Dels=0.00;FS=3.224;HRun=1;HaplotypeScore=6.4425;MQ=53;MQ0=0;MQRankSum=-0.030;QD=12.88;ReadPosRankSum=0.274;SB=-1364.34;TI=NM_002644;GI=PIGR;FC=Missense_A580V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,106:204:99:2658,0,2406:53:99:0.520 chr1 207109116 rs2275531 C T 1465.61 PASS BaseQRankSum=-1.021;DP=101;Dels=0.00;FS=1.728;HRun=1;HaplotypeScore=4.6416;MQ=57;MQ0=0;MQRankSum=2.272;QD=14.51;ReadPosRankSum=-1.452;SB=-649.02;TI=NM_002644;GI=PIGR;FC=Missense_G365S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,56:101:99:1496,0,1238:57:99:0.554 chr1 207109167 rs6695632 G A 640.03 PASS BaseQRankSum=1.310;DP=39;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=58;MQ0=0;MQRankSum=0.465;QD=16.41;ReadPosRankSum=0.916;SB=-69.26;TI=NM_002644;GI=PIGR;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,21:39:99:670,0,551:58:99:0.538 chr1 207110888 rs291097 G A 2091.29 PASS BaseQRankSum=0.232;DP=172;Dels=0.00;FS=0.606;HRun=0;HaplotypeScore=6.6450;MQ=56;MQ0=0;MQRankSum=1.050;QD=12.16;ReadPosRankSum=-0.905;SB=-864.68;TI=NM_002644;GI=PIGR;FC=Synonymous_G199G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,75:172:99:2121,0,2889:56:99:0.436 chr1 207110936 rs291096 T C 5460.34 PASS DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9396;MQ=55;MQ0=0;QD=31.56;SB=-2208.56;TI=NM_002644;GI=PIGR;FC=Synonymous_V183V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,172:173:99:5460,400,0:55:99:1.000 chr1 207297680 rs1126618 T C 979.96 PASS BaseQRankSum=2.225;DP=123;Dels=0.00;FS=1.503;HRun=0;HaplotypeScore=4.5755;MQ=53;MQ0=0;MQRankSum=-0.013;QD=7.97;ReadPosRankSum=0.591;SB=-627.22;TI=NM_000715;GI=C4BPA;FC=Synonymous_G225G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,43:123:99:1010,0,2216:53:99:0.350 chr1 207304900 rs4844573 T C 201.09 LowGQ;LowDP BaseQRankSum=-0.751;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-0.751;QD=22.34;ReadPosRankSum=-0.751;SB=-149.42;TI=NM_000715;GI=C4BPA;FC=Missense_I300T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,8:9:19.58:231,0,20:56:20:0.889 chr1 207646322 rs1048971 G A 3319.76 PASS BaseQRankSum=0.944;DP=299;Dels=0.00;FS=7.956;HRun=0;HaplotypeScore=16.5829;MQ=54;MQ0=0;MQRankSum=2.439;QD=11.10;ReadPosRankSum=0.294;SB=-1950.79;TI=NM_001006658,NM_001877;GI=CR2,CR2;FC=Synonymous_L592L,Synonymous_L592L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:161,137:299:99:3320,0,3926:54:99:0.460 chr1 207646462 rs17615 G A 1386.89 PASS BaseQRankSum=1.431;DP=112;Dels=0.00;FS=3.796;HRun=1;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=0.590;QD=12.38;ReadPosRankSum=-0.164;SB=-454.16;TI=NM_001006658,NM_001877;GI=CR2,CR2;FC=Missense_S639N,Missense_S639N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,51:112:99:1417,0,1715:56:99:0.455 chr1 207646898 rs4308977 T C 494.78 PASS BaseQRankSum=-0.411;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7878;MQ=58;MQ0=0;MQRankSum=0.099;QD=12.07;ReadPosRankSum=0.496;SB=-115.00;TI=NM_001006658,NM_001877;GI=CR2,CR2;FC=Missense_S663P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,17:41:99:525,0,704:58:99:0.436 chr1 207646923 rs17616 G A 885.37 PASS BaseQRankSum=-0.281;DP=79;Dels=0.00;FS=0.888;HRun=0;HaplotypeScore=4.8916;MQ=55;MQ0=0;MQRankSum=2.097;QD=11.21;ReadPosRankSum=0.637;SB=-390.65;TI=NM_001006658,NM_001877;GI=CR2,CR2;FC=Missense_R671H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,35:79:99:915,0,1191:55:99:0.443 chr1 207648494 rs1143665 T C 52.35 SB;LowDP BaseQRankSum=-1.109;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.370;QD=4.36;ReadPosRankSum=0.370;SB=-0.01;TI=NM_001006658,NM_001877;GI=CR2,CR2;FC=Synonymous_G883G,Synonymous_G824G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,3:12:82.34:82,0,313:60:52:0.250 chr1 207653395 rs6540433 C A 621.48 PASS BaseQRankSum=0.404;DP=65;Dels=0.00;FS=0.987;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=2.285;QD=9.56;ReadPosRankSum=2.365;SB=-398.89;TI=NM_001006658,NM_001877;GI=CR2,CR2;FC=Missense_A1062E,Missense_A1003E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,28:65:99:651,0,893:55:99:0.431 chr1 207679307 rs4844600;rs61737012 A G 1704.16 PASS DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.90;SB=-1025.30;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Synonymous_E60E,Synonymous_E60E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:57:99:1737,126,0:55:99:1.000 chr1 207718807 . C T 161.78 PASS BaseQRankSum=0.220;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=18;MQ0=82;MQRankSum=-0.235;QD=1.07;ReadPosRankSum=1.102;SB=-77.13;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Silent,Synonymous_S797S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,40:151:99:192,0,1068:18:99:0.265 chr1 207737312 rs56232421;rs77529679 T C 240.92 LowGQ;SB;LowDP BaseQRankSum=0.099;DP=13;Dels=0.00;FS=7.404;HRun=0;HaplotypeScore=0.8941;MQ=27;MQ0=0;MQRankSum=1.678;QD=18.53;ReadPosRankSum=2.073;SB=-1.13;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Synonymous_Y780Y,Synonymous_Y1230Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,11:13:13.41:271,0,13:27:13:0.846 chr1 207737363 . C T 560.22 SB BaseQRankSum=1.013;DP=77;Dels=0.00;FS=4.260;HRun=0;HaplotypeScore=1.7882;MQ=19;MQ0=44;MQRankSum=0.387;QD=7.28;ReadPosRankSum=0.239;SB=-0.01;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Synonymous_S797S,Synonymous_S1247S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,30:77:99:590,0,302:19:99:0.390 chr1 207753621 rs2274567 A G 693.38 PASS BaseQRankSum=0.656;DP=51;Dels=0.00;FS=2.482;HRun=0;HaplotypeScore=1.8857;MQ=50;MQ0=0;MQRankSum=1.550;QD=13.60;ReadPosRankSum=1.151;SB=-287.92;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Missense_H1208R,Missense_H1658R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,29:51:99:723,0,506:50:99:0.569 chr1 207758232 rs1752688 A G 1203.37 PASS DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.35;SB=-644.44;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:90.29:1236,90,0:52:90:1.000 chr1 207782856 rs17047660 A G 4296.39 PASS BaseQRankSum=1.600;DP=381;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2544;MQ=55;MQ0=0;MQRankSum=1.976;QD=11.28;ReadPosRankSum=0.235;SB=-2993.88;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Missense_K1590E,Missense_K2040E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:196,185:381:99:4296,0,4454:55:99:0.486 chr1 207782889 rs17047661 A G 4622.58 PASS BaseQRankSum=2.611;DP=417;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5711;MQ=54;MQ0=0;MQRankSum=2.019;QD=11.09;ReadPosRankSum=1.807;SB=-2863.10;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Missense_R1601G,Missense_R2051G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:220,197:417:99:4623,0,5092:54:99:0.472 chr1 207782916 rs4844609 A T 11096.97 PASS BaseQRankSum=1.568;DP=403;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=17.5607;MQ=54;MQ0=0;MQRankSum=1.654;QD=27.54;ReadPosRankSum=-1.611;SB=-6394.17;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Missense_T1610S,Missense_T2060S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,399:401:99:11097,767,0:54:99:0.998 chr1 207782931 rs6691117 A G 10743.84 PASS BaseQRankSum=1.982;DP=385;Dels=0.00;FS=2.718;HRun=0;HaplotypeScore=11.9476;MQ=54;MQ0=0;MQRankSum=1.326;QD=27.91;ReadPosRankSum=-0.117;SB=-5530.27;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Missense_I1615V,Missense_I2065V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,382:385:99:10744,706,0:54:99:0.992 chr1 207790088 rs3811381 C G 897.13 PASS BaseQRankSum=2.090;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=-0.374;QD=14.71;ReadPosRankSum=0.213;SB=-420.24;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Missense_P1827R,Missense_P2277R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,36:61:99:927,0,594:52:99:0.590 chr1 207795320 rs2296160 A G 2689.75 PASS DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=26.63;SB=-1941.67;TI=NM_000573,NM_000651;GI=CR1,CR1;FC=Missense_T1969A,Missense_T2419A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2723,196,0:53:99:1.000 chr1 209792015 rs5780528 A AC 2078.77 PASS DP=51;FS=0.000;HRun=1;HaplotypeScore=31.4738;MQ=61;MQ0=0;QD=40.76;SB=-339.13;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,50:51:99:2121,151,0:61:99:0.980 chr1 209799253 rs2179402 A G 1748.77 PASS BaseQRankSum=1.269;DP=161;Dels=0.00;FS=0.621;HRun=0;HaplotypeScore=7.0633;MQ=55;MQ0=0;MQRankSum=2.288;QD=10.86;ReadPosRankSum=-0.837;SB=-697.14;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Synonymous_C572C,Synonymous_C572C,Synonymous_C572C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,63:161:99:1779,0,2535:55:99:0.391 chr1 209800230 rs2076349 C T 2183.84 PASS BaseQRankSum=1.043;DP=220;Dels=0.00;FS=1.058;HRun=0;HaplotypeScore=7.9645;MQ=55;MQ0=0;MQRankSum=1.757;QD=9.93;ReadPosRankSum=-0.099;SB=-1361.00;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Missense_V527M,Missense_V527M,Missense_V527M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,98:220:99:2214,0,2740:55:99:0.445 chr1 209800901 rs2229468 A T 1223.61 PASS BaseQRankSum=2.443;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6186;MQ=55;MQ0=0;MQRankSum=0.813;QD=10.83;ReadPosRankSum=0.784;SB=-901.15;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Missense_S438T,Missense_S438T,Missense_S438T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,56:113:99:1254,0,1400:55:99:0.496 chr1 209811886 rs2076356 T G 866.17 PASS BaseQRankSum=1.067;DP=87;Dels=0.00;FS=1.840;HRun=1;HaplotypeScore=4.4156;MQ=56;MQ0=0;MQRankSum=-0.251;QD=9.96;ReadPosRankSum=1.688;SB=-525.54;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Synonymous_S97S,Synonymous_S97S,Synonymous_S97S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,41:87:99:896,0,1179:56:99:0.471 chr1 210335989 . A G 1481.72 PASS BaseQRankSum=1.083;DP=96;Dels=0.00;FS=8.575;HRun=0;HaplotypeScore=2.7041;MQ=57;MQ0=0;MQRankSum=-0.228;QD=15.43;ReadPosRankSum=0.604;SB=-820.73;TI=NM_001146264,NM_001146262,NR_027459,NM_153262,NR_027458,NM_001146261;GI=SYT14,SYT14,SYT14,SYT14,SYT14,SYT14;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,53:96:99:1512,0,1286:57:99:0.552 chr1 210336356 rs73061735 T C 1547.17 PASS BaseQRankSum=0.061;DP=105;Dels=0.00;FS=7.873;HRun=0;HaplotypeScore=2.6548;MQ=58;MQ0=0;MQRankSum=-0.388;QD=14.73;ReadPosRankSum=0.362;SB=-853.24;TI=NM_001146264,NM_001146262,NR_027459,NM_153262,NR_027458,NM_001146261;GI=SYT14,SYT14,SYT14,SYT14,SYT14,SYT14;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,52:105:99:1577,0,1540:58:99:0.495 chr1 210336584 . CTAAT C 7713.18 PASS BaseQRankSum=-0.296;DP=224;FS=4.181;HRun=0;HaplotypeScore=139.3254;MQ=56;MQ0=0;MQRankSum=1.026;QD=34.43;ReadPosRankSum=0.903;SB=-2512.12;TI=NM_001146264,NM_001146262,NR_027459,NM_153262,NR_027458,NM_001146261;GI=SYT14,SYT14,SYT14,SYT14,SYT14,SYT14;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,118:224:99:7713,0,6745:56:99:0.529 chr1 210337043 rs4844954 A G 9450.62 PASS BaseQRankSum=-1.250;DP=313;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=55;MQ0=0;MQRankSum=0.451;QD=30.19;ReadPosRankSum=-0.255;SB=-5777.35;TI=NM_001146264,NM_001146262,NR_027459,NM_153262,NR_027458,NM_001146261;GI=SYT14,SYT14,SYT14,SYT14,SYT14,SYT14;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,311:313:99:9451,617,0:55:99:0.994 chr1 210337096 . CAG C 6965.02 PASS BaseQRankSum=1.057;DP=299;FS=0.889;HRun=0;HaplotypeScore=943.9398;MQ=56;MQ0=0;MQRankSum=0.527;QD=23.29;ReadPosRankSum=-0.042;SB=-3000.13;TI=NM_001146264,NM_001146262,NR_027459,NM_153262,NR_027458,NM_001146261;GI=SYT14,SYT14,SYT14,SYT14,SYT14,SYT14;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:155,144:299:99:6965,0,7612:56:99:0.482 chr1 213031948 rs11120047 G C 518.81 SB BaseQRankSum=-1.624;DP=33;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=13.6167;MQ=57;MQ0=0;MQRankSum=0.000;QD=15.72;ReadPosRankSum=-0.113;SB=-0.01;TI=NM_014053;GI=FLVCR1;FC=Missense_A52P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,17:33:99:549,0,496:57:99:0.531 chr1 213068404 rs17019870 T C 636.17 PASS BaseQRankSum=2.296;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=57;MQ0=0;MQRankSum=-0.365;QD=10.60;ReadPosRankSum=-2.281;SB=-329.30;TI=NM_014053;GI=FLVCR1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,23:60:99:666,0,1159:57:99:0.383 chr1 213068595 rs3207090 C T 1059.32 PASS BaseQRankSum=0.574;DP=97;Dels=0.00;FS=4.073;HRun=0;HaplotypeScore=6.4697;MQ=57;MQ0=0;MQRankSum=-0.155;QD=10.92;ReadPosRankSum=-1.073;SB=-633.50;TI=NM_014053;GI=FLVCR1;FC=Missense_T544M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,46:97:99:1089,0,1315:57:99:0.474 chr1 214542819 rs1135352 T C 3394.90 PASS BaseQRankSum=1.762;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4922;MQ=55;MQ0=0;MQRankSum=1.358;QD=30.86;ReadPosRankSum=-0.954;SB=-1697.01;TI=NM_005401;GI=PTPN14;FC=Synonymous_E1084E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,107:110:99:3395,179,0:55:99:0.973 chr1 214542891 rs61749332 G A 2652.92 PASS BaseQRankSum=1.513;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.2217;MQ=56;MQ0=0;MQRankSum=1.030;QD=12.82;ReadPosRankSum=1.113;SB=-1420.85;TI=NM_005401;GI=PTPN14;FC=Synonymous_H1060H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,104:207:99:2683,0,2563:56:99:0.507 chr1 214564340 rs7550799 T C 1018.74 PASS DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=27.53;SB=-668.71;TI=NM_005401;GI=PTPN14;FC=Synonymous_R326R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,37:37:75.25:1052,75,0:55:75:1.000 chr1 214571251 rs11580603 A C 851.74 PASS BaseQRankSum=1.987;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6817;MQ=55;MQ0=0;MQRankSum=1.503;QD=9.90;ReadPosRankSum=1.209;SB=-672.66;TI=NM_005401;GI=PTPN14;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,43:86:99:882,0,998:55:99:0.500 chr1 215848587 rs2797234 T C 3596.21 PASS BaseQRankSum=2.871;DP=206;Dels=0.00;FS=3.301;HRun=0;HaplotypeScore=6.2586;MQ=56;MQ0=0;MQRankSum=1.902;QD=17.46;ReadPosRankSum=0.196;SB=-1623.58;TI=NM_206933;GI=USH2A;FC=Synonymous_T4222T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,120:206:99:3596,0,2039:56:99:0.583 chr1 215848641 rs2797235 T C 6694.23 PASS DP=231;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.5029;MQ=56;MQ0=0;QD=28.98;SB=-4287.21;TI=NM_206933;GI=USH2A;FC=Synonymous_T4204T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,231:231:99:6694,485,0:56:99:1.000 chr1 215914883 . GA G 1340.23 R8 BaseQRankSum=-4.066;DP=129;FS=0.000;HRun=12;HaplotypeScore=114.3580;MQ=56;MQ0=0;MQRankSum=0.642;QD=10.39;ReadPosRankSum=-0.120;SB=-616.65;TI=NM_206933;GI=USH2A;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,60:129:99:1379,0,1103:56:99:0.504 chr1 215990479 rs11120645 C T 1185.16 PASS BaseQRankSum=1.639;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8937;MQ=52;MQ0=0;MQRankSum=1.263;QD=11.51;ReadPosRankSum=0.683;SB=-846.40;TI=NM_206933;GI=USH2A;FC=Missense_D3144N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,52:103:99:1215,0,1104:52:99:0.505 chr1 216011408 rs41277194 T C 927.53 PASS BaseQRankSum=0.169;DP=67;Dels=0.00;FS=5.365;HRun=0;HaplotypeScore=0.9997;MQ=55;MQ0=0;MQRankSum=-0.270;QD=13.84;ReadPosRankSum=-1.349;SB=-408.49;TI=NM_206933;GI=USH2A;FC=Missense_N3099S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,35:67:99:958,0,946:55:99:0.522 chr1 216017681 . C T 1729.28 PASS BaseQRankSum=1.516;DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8792;MQ=53;MQ0=0;MQRankSum=-0.043;QD=9.40;ReadPosRankSum=-1.168;SB=-1248.43;TI=NM_206933;GI=USH2A;FC=Synonymous_S3071S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,82:184:99:1759,0,2426:53:99:0.446 chr1 216219781 rs6657250 A G 1838.44 PASS BaseQRankSum=0.816;DP=160;Dels=0.00;FS=8.242;HRun=0;HaplotypeScore=10.9621;MQ=48;MQ0=0;MQRankSum=-2.502;QD=11.49;ReadPosRankSum=0.384;SB=-941.97;TI=NM_206933;GI=USH2A;FC=Missense_I2106T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,78:160:99:1868,0,1882:48:99:0.494 chr1 216348764 rs1805049 C T 2259.96 PASS DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=57;MQ0=0;QD=29.74;SB=-1003.51;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Missense_R1486K,Missense_R1486K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:76:99:2293,166,0:57:99:1.000 chr1 216592003 rs4253963 T C 4124.04 PASS BaseQRankSum=2.381;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=0.645;QD=28.84;ReadPosRankSum=-0.713;SB=-2064.55;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Synonymous_T168T,Synonymous_T168T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,141:143:99:4124,298,0:56:99:0.986 chr1 216595306 rs10779261 C T 3706.32 PASS DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;QD=26.29;SB=-2677.29;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Missense_A125T,Missense_A125T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,141:141:99:3706,262,0:56:99:1.000 chr1 220101133 rs79328219 C T 503.98 PASS BaseQRankSum=1.302;DP=56;Dels=0.00;FS=1.046;HRun=0;HaplotypeScore=2.8455;MQ=50;MQ0=0;MQRankSum=1.879;QD=9.00;ReadPosRankSum=0.890;SB=-334.78;TI=NM_018713;GI=SLC30A10;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,25:56:99:534,0,814:50:99:0.446 chr1 220369745 . TA T 1749.14 R8 BaseQRankSum=-0.963;DP=184;FS=6.645;HRun=12;HaplotypeScore=290.5730;MQ=53;MQ0=0;MQRankSum=0.928;QD=9.51;ReadPosRankSum=-1.511;SB=-800.78;TI=NM_012414;GI=RAB3GAP2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,76:184:99:1788,0,1469:53:99:0.494 chr1 221053574 rs62621984 A C 829.07 PASS BaseQRankSum=0.949;DP=71;Dels=0.00;FS=6.436;HRun=1;HaplotypeScore=6.2796;MQ=57;MQ0=0;MQRankSum=2.450;QD=11.68;ReadPosRankSum=1.205;SB=-310.69;TI=NM_021958;GI=HLX;FC=Missense_Q125H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,30:71:99:859,0,1004:57:99:0.423 chr1 221057646 rs2738755 C T 414.48 SB BaseQRankSum=1.662;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59;MQ0=0;MQRankSum=-0.297;QD=12.19;ReadPosRankSum=-0.437;SB=-0.01;TI=NM_021958;GI=HLX;FC=Missense_P356L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,14:34:99:444,0,677:59:99:0.412 chr1 221057739 rs11578466 C G 1407.85 PASS BaseQRankSum=-1.349;DP=103;Dels=0.01;FS=0.000;HRun=2;HaplotypeScore=3.7271;MQ=56;MQ0=0;MQRankSum=0.604;QD=13.67;ReadPosRankSum=0.222;SB=-587.28;TI=NM_021958;GI=HLX;FC=Missense_A387G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,55:102:99:1438,0,1204:56:99:0.539 chr1 222798106 rs3008617 G A 3098.89 PASS DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=54;MQ0=0;QD=27.92;SB=-2149.32;TI=NM_198551;GI=MIA3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,111:111:99:3132,226,0:54:99:1.000 chr1 222802006 rs2936053 A G 4295.09 PASS DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6611;MQ=58;MQ0=0;QD=34.92;SB=-1855.28;TI=NM_198551;GI=MIA3;FC=Missense_K482E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:4295,322,0:58:99:1.000 chr1 222802376 rs2936052 A G 2370.16 PASS BaseQRankSum=0.504;DP=172;Dels=0.00;FS=8.702;HRun=0;HaplotypeScore=8.3573;MQ=56;MQ0=0;MQRankSum=0.575;QD=13.78;ReadPosRankSum=-0.930;SB=-1069.12;TI=NM_198551;GI=MIA3;FC=Missense_K605R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,90:172:99:2400,0,2312:56:99:0.523 chr1 222802803 rs3748626 T G 2165.03 PASS BaseQRankSum=2.581;DP=149;Dels=0.00;FS=0.620;HRun=3;HaplotypeScore=12.2250;MQ=54;MQ0=0;MQRankSum=2.387;QD=14.53;ReadPosRankSum=0.365;SB=-1320.43;TI=NM_198551;GI=MIA3;FC=Synonymous_P747P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,83:149:99:2195,0,1621:54:99:0.557 chr1 222802926 rs3008620 C T 5075.07 PASS DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3310;MQ=54;MQ0=0;QD=32.95;SB=-2764.26;TI=NM_198551;GI=MIA3;FC=Synonymous_S788S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,154:154:99:5075,376,0:54:99:1.000 chr1 222803204 rs2936051 A G 2795.45 PASS BaseQRankSum=1.813;DP=220;Dels=0.00;FS=9.975;HRun=1;HaplotypeScore=8.9845;MQ=54;MQ0=0;MQRankSum=1.582;QD=12.71;ReadPosRankSum=-0.645;SB=-1368.91;TI=NM_198551;GI=MIA3;FC=Missense_E881G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,108:220:99:2825,0,2879:54:99:0.491 chr1 222826481 rs2291832 G A 2524.63 PASS BaseQRankSum=1.262;DP=211;Dels=0.00;FS=9.079;HRun=0;HaplotypeScore=9.2921;MQ=57;MQ0=0;MQRankSum=0.206;QD=11.97;ReadPosRankSum=-1.005;SB=-1098.83;TI=NM_198551;GI=MIA3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,91:211:99:2555,0,3308:57:99:0.431 chr1 222833601 rs3002153 T C 2691.63 PASS DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=28.63;SB=-1669.29;TI=NM_198551;GI=MIA3;FC=Synonymous_P1686P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2725,196,0:50:99:1.000 chr1 223176275 rs61738819 G A 490.90 PASS BaseQRankSum=0.644;DP=50;Dels=0.00;FS=2.742;HRun=1;HaplotypeScore=5.4702;MQ=56;MQ0=0;MQRankSum=0.010;QD=9.82;ReadPosRankSum=1.812;SB=-237.46;TI=NM_032890;GI=DISP1;FC=Synonymous_V512V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,20:50:99:521,0,954:56:99:0.400 chr1 223177574 rs2609355 A G 370.24 PASS BaseQRankSum=0.655;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4704;MQ=55;MQ0=0;MQRankSum=-0.364;QD=13.71;ReadPosRankSum=-1.043;SB=-125.06;TI=NM_032890;GI=DISP1;FC=Synonymous_K945K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,14:27:99:400,0,335:55:99:0.519 chr1 223178478 rs9441940 G A 267.46 LowDP BaseQRankSum=0.761;DP=13;Dels=0.00;FS=2.920;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.930;QD=20.57;ReadPosRankSum=0.254;SB=-106.80;TI=NM_032890;GI=DISP1;FC=Missense_A1247T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,10:13:85.98:297,0,86:60:86:0.769 chr1 223178561 rs9441941 A C 245.75 LowDP BaseQRankSum=0.971;DP=18;Dels=0.00;FS=4.752;HRun=3;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.236;QD=13.65;ReadPosRankSum=-1.766;SB=-58.16;TI=NM_032890;GI=DISP1;FC=Synonymous_P1274P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,9:18:99:276,0,269:57:99:0.500 chr1 223179255 . C A 5.92 LowGQX;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.804;QD=2.96;ReadPosRankSum=0.804;SB=-0.01;TI=NM_032890;GI=DISP1;FC=Missense_P1506T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:34.63:35,0,35:60:6:0.500 chr1 223283910 rs7512943 A G 2749.34 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=53;MQ0=0;QD=30.21;SB=-1577.84;TI=NM_003268;GI=TLR5;FC=Missense_F822L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:91:99:2782,205,0:53:99:1.000 chr1 223284528 rs5744174 A G 3439.16 PASS BaseQRankSum=-0.267;DP=292;Dels=0.00;FS=1.976;HRun=0;HaplotypeScore=14.5319;MQ=53;MQ0=0;MQRankSum=1.555;QD=11.78;ReadPosRankSum=0.706;SB=-1928.04;TI=NM_003268;GI=TLR5;FC=Missense_F616L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:151,140:292:99:3439,0,3727:53:99:0.481 chr1 225607144 rs2230419 C T 517.24 PASS BaseQRankSum=-0.190;DP=38;Dels=0.00;FS=1.210;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=-1.242;QD=13.61;ReadPosRankSum=0.541;SB=-253.44;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Missense_S154N,Missense_S154N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,18:38:99:547,0,487:59:99:0.474 chr1 225609884 rs1056608 A G 677.86 PASS BaseQRankSum=0.408;DP=63;Dels=0.00;FS=7.398;HRun=4;HaplotypeScore=7.2942;MQ=54;MQ0=0;MQRankSum=-0.817;QD=10.76;ReadPosRankSum=1.014;SB=-489.21;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Synonymous_P87P,Synonymous_P87P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,31:63:99:708,0,727:54:99:0.500 chr1 225611661 rs1056607 C T 444.69 PASS BaseQRankSum=0.213;DP=54;Dels=0.00;FS=2.527;HRun=2;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-0.195;QD=8.23;ReadPosRankSum=-0.213;SB=-299.68;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Synonymous_V39V,Synonymous_V39V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,21:54:99:475,0,899:53:99:0.389 chr1 226019653 rs2292566 G A 874.25 PASS BaseQRankSum=-0.218;DP=87;Dels=0.00;FS=0.837;HRun=2;HaplotypeScore=5.5255;MQ=57;MQ0=0;MQRankSum=2.036;QD=10.05;ReadPosRankSum=0.900;SB=-487.07;TI=NM_001136018,NM_000120;GI=EPHX1,EPHX1;FC=Synonymous_K119K,Synonymous_K119K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,39:87:99:904,0,1204:57:99:0.448 chr1 226026406 rs2234922 A G 3320.82 PASS BaseQRankSum=1.374;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7595;MQ=55;MQ0=0;MQRankSum=0.747;QD=28.63;ReadPosRankSum=0.358;SB=-1705.46;TI=NM_001136018,NM_000120;GI=EPHX1,EPHX1;FC=Missense_H139R,Missense_H139R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,115:116:99:3321,209,0:55:99:0.991 chr1 226032229 rs1051741 C T 885.85 PASS BaseQRankSum=-0.017;DP=73;Dels=0.00;FS=0.884;HRun=0;HaplotypeScore=3.6781;MQ=52;MQ0=0;MQRankSum=2.632;QD=12.13;ReadPosRankSum=-0.756;SB=-532.67;TI=NM_001136018,NM_000120;GI=EPHX1,EPHX1;FC=Synonymous_N357N,Synonymous_N357N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,36:73:99:916,0,807:52:99:0.493 chr1 226570840 rs1805415 T C 1301.89 PASS DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=26.04;SB=-966.26;TI=NM_001618;GI=PARP1;FC=Synonymous_K352K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:50:93.31:1335,93,0:54:93:1.000 chr1 226573364 rs1805414 A G 980.30 PASS BaseQRankSum=-0.704;DP=133;Dels=0.00;FS=2.357;HRun=1;HaplotypeScore=10.7677;MQ=55;MQ0=0;MQRankSum=0.310;QD=7.37;ReadPosRankSum=1.305;SB=-715.84;TI=NM_001618;GI=PARP1;FC=Synonymous_A284A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,50:133:99:1010,0,1938:55:99:0.382 chr1 226580021 rs1805405 G T 1619.12 PASS BaseQRankSum=0.969;DP=116;Dels=0.00;FS=2.494;HRun=0;HaplotypeScore=8.2006;MQ=56;MQ0=0;MQRankSum=2.844;QD=13.96;ReadPosRankSum=0.357;SB=-1127.24;TI=NM_001618;GI=PARP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,71:116:99:1649,0,1081:56:99:0.612 chr1 227069677 rs11405 T C 2157.51 PASS DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=53;MQ0=0;QD=27.31;SB=-1485.37;TI=NM_012486,NM_000447;GI=PSEN2,PSEN2;FC=Synonymous_A23A,Synonymous_A23A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2191,160,0:53:99:1.000 chr1 227069737 rs6759 C T 1369.32 PASS DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=57;MQ0=0;QD=29.13;SB=-756.40;TI=NM_012486,NM_000447;GI=PSEN2,PSEN2;FC=Synonymous_N43N,Synonymous_N43N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:99:1402,102,0:57:99:1.000 chr1 227071525 rs1046240 C T 3634.44 PASS DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=45;MQ0=0;QD=25.78;SB=-2714.88;TI=NM_012486,NM_000447;GI=PSEN2,PSEN2;FC=Synonymous_H87H,Synonymous_H87H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,141:141:99:3634,262,0:45:99:1.000 chr1 227172290 rs12593 C T 2270.24 PASS BaseQRankSum=1.927;DP=172;Dels=0.00;FS=6.626;HRun=2;HaplotypeScore=6.2655;MQ=53;MQ0=0;MQRankSum=1.038;QD=13.20;ReadPosRankSum=1.422;SB=-1655.78;TI=NM_020247;GI=ADCK3;FC=Synonymous_F480F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,99:172:99:2300,0,1676:53:99:0.576 chr1 227174145 rs7552783 T C 410.26 PASS BaseQRankSum=-0.416;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9971;MQ=60;MQ0=0;MQRankSum=1.491;QD=12.07;ReadPosRankSum=-0.798;SB=-68.62;TI=NM_020247;GI=ADCK3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,15:34:99:440,0,592:60:99:0.441 chr1 227174210 rs3738725 T C 777.03 PASS BaseQRankSum=2.448;DP=88;Dels=0.00;FS=2.966;HRun=1;HaplotypeScore=10.0388;MQ=53;MQ0=0;MQRankSum=1.973;QD=8.83;ReadPosRankSum=0.777;SB=-395.95;TI=NM_020247;GI=ADCK3;FC=Synonymous_S572S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,36:88:99:807,0,1195:53:99:0.409 chr1 228345450 . G C 77.04 SB BaseQRankSum=-0.717;DP=33;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=63.8745;MQ=39;MQ0=0;MQRankSum=-0.340;QD=2.33;ReadPosRankSum=-0.227;SB=-0.01;TI=NM_020435;GI=GJC2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,17:33:99:107,0,180:39:77:0.531 chr1 228345454 . G C 189.32 SB BaseQRankSum=-0.409;DP=32;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=57.8648;MQ=38;MQ0=0;MQRankSum=-1.499;QD=5.92;ReadPosRankSum=1.265;SB=-0.01;TI=NM_020435;GI=GJC2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,20:32:99:219,0,146:38:99:0.625 chr1 228345459 . T C 122.46 SB BaseQRankSum=-1.450;DP=35;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=77.3985;MQ=41;MQ0=0;MQRankSum=-1.717;QD=3.50;ReadPosRankSum=1.983;SB=-0.01;TI=NM_020435;GI=GJC2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,15:35:99:152,0,334:41:99:0.429 chr1 228345466 . A C 22.42 SB BaseQRankSum=-1.161;DP=36;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=72.0025;MQ=43;MQ0=0;MQRankSum=-1.389;QD=0.62;ReadPosRankSum=0.095;SB=-0.01;TI=NM_020435;GI=GJC2;FC=Missense_N3H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,8:36:52.39:52,0,448:43:22:0.222 chr1 228399482 rs11804508 C G 393.72 SB BaseQRankSum=-1.702;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7331;MQ=59;MQ0=0;MQRankSum=-0.833;QD=18.75;ReadPosRankSum=0.109;SB=-0.01;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,13:21:99:424,0,257:59:99:0.619 chr1 228399766 rs55971985 T C 1297.01 PASS BaseQRankSum=-0.778;DP=156;Dels=0.00;FS=3.018;HRun=1;HaplotypeScore=7.3092;MQ=52;MQ0=0;MQRankSum=2.695;QD=8.31;ReadPosRankSum=0.065;SB=-705.89;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_A94A,Synonymous_A94A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,56:156:99:1327,0,2426:52:99:0.359 chr1 228402047 rs1620111 A G 1816.96 PASS BaseQRankSum=1.655;DP=145;Dels=0.00;FS=0.617;HRun=0;HaplotypeScore=6.3379;MQ=56;MQ0=0;MQRankSum=1.058;QD=12.53;ReadPosRankSum=0.144;SB=-1060.71;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_L477L,Synonymous_L477L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,74:145:99:1847,0,1800:56:99:0.510 chr1 228402121 rs1771487 A G 1785.31 PASS BaseQRankSum=-0.335;DP=109;Dels=0.00;FS=1.894;HRun=1;HaplotypeScore=4.5213;MQ=56;MQ0=0;MQRankSum=-0.025;QD=16.38;ReadPosRankSum=-1.004;SB=-434.22;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_Q502R,Missense_Q502R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,61:109:99:1815,0,1255:56:99:0.565 chr1 228402508 rs2776853 C T 778.69 PASS BaseQRankSum=-0.615;DP=53;Dels=0.00;FS=3.242;HRun=1;HaplotypeScore=2.7331;MQ=59;MQ0=0;MQRankSum=0.312;QD=14.69;ReadPosRankSum=0.312;SB=-84.48;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_L513L,Synonymous_L513L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,25:53:99:809,0,788:59:99:0.472 chr1 228404198 rs61501937 G A 804.38 PASS BaseQRankSum=0.458;DP=73;Dels=0.00;FS=0.900;HRun=0;HaplotypeScore=2.9890;MQ=56;MQ0=0;MQRankSum=3.536;QD=11.02;ReadPosRankSum=1.385;SB=-575.16;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_A724A,Synonymous_A724A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,37:73:99:834,0,844:56:99:0.507 chr1 228412227 rs1771480 T C 1236.79 PASS BaseQRankSum=-0.060;DP=98;Dels=0.00;FS=1.674;HRun=0;HaplotypeScore=3.7813;MQ=55;MQ0=0;MQRankSum=-0.792;QD=12.62;ReadPosRankSum=0.807;SB=-621.00;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_S907S,Synonymous_S907S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,50:98:99:1267,0,1087:55:99:0.510 chr1 228412228 rs1757153 G A 1247.08 PASS BaseQRankSum=0.469;DP=96;Dels=0.00;FS=2.681;HRun=0;HaplotypeScore=2.7815;MQ=55;MQ0=0;MQRankSum=1.400;QD=12.99;ReadPosRankSum=0.660;SB=-674.32;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_A908T,Missense_A908T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,49:96:99:1277,0,1081:55:99:0.510 chr1 228412308 rs1757152 G A 1574.41 PASS BaseQRankSum=-1.493;DP=134;Dels=0.00;FS=2.161;HRun=3;HaplotypeScore=2.6823;MQ=53;MQ0=0;MQRankSum=1.636;QD=11.75;ReadPosRankSum=0.127;SB=-1120.42;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_S934S,Synonymous_S934S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,68:134:99:1604,0,1643:53:99:0.507 chr1 228431095 rs1771455 A G 766.33 PASS BaseQRankSum=-0.592;DP=58;Dels=0.00;FS=4.124;HRun=1;HaplotypeScore=2.8872;MQ=58;MQ0=0;MQRankSum=-1.076;QD=13.21;ReadPosRankSum=0.000;SB=-188.58;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_T1047T,Synonymous_T1047T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,27:58:99:796,0,791:58:99:0.466 chr1 228433217 rs2487384 A G 1072.47 PASS BaseQRankSum=1.794;DP=81;Dels=0.00;FS=0.864;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.761;QD=13.24;ReadPosRankSum=0.062;SB=-705.93;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_T1195T,Synonymous_T1195T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,47:81:99:1102,0,751:52:99:0.580 chr1 228434395 rs7517088 T C 1291.00 PASS BaseQRankSum=0.164;DP=105;Dels=0.00;FS=0.729;HRun=1;HaplotypeScore=4.3882;MQ=54;MQ0=0;MQRankSum=0.787;QD=12.30;ReadPosRankSum=0.151;SB=-930.98;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_A1308A,Synonymous_A1308A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,56:105:99:1321,0,952:54:99:0.533 chr1 228434467 rs7517108 T C 638.50 PASS BaseQRankSum=0.118;DP=44;Dels=0.00;FS=2.824;HRun=1;HaplotypeScore=1.8614;MQ=58;MQ0=0;MQRankSum=0.948;QD=14.51;ReadPosRankSum=-0.735;SB=-340.86;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_A1332A,Synonymous_A1332A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,25:44:99:668,0,507:58:99:0.568 chr1 228444565 rs7532342 T A 3989.81 PASS DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4110;MQ=57;MQ0=0;QD=30.69;SB=-1364.02;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_V1508D,Missense_V1508D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:3990,298,0:57:99:1.000 chr1 228461757 rs474735 G A 1223.23 PASS BaseQRankSum=-0.110;DP=92;Dels=0.00;FS=6.905;HRun=0;HaplotypeScore=14.6526;MQ=56;MQ0=0;MQRankSum=2.443;QD=13.30;ReadPosRankSum=-1.037;SB=-449.10;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,41:92:99:1253,0,1330:56:99:0.446 chr1 228464248 rs1188721 T G 1136.85 PASS BaseQRankSum=-0.711;DP=112;Dels=0.00;FS=1.559;HRun=2;HaplotypeScore=7.8746;MQ=53;MQ0=0;MQRankSum=0.319;QD=10.15;ReadPosRankSum=1.133;SB=-769.61;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_D2106E,Missense_D2106E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,50:112:99:1167,0,1356:53:99:0.446 chr1 228464276 rs1188722 T C 1080.00 PASS BaseQRankSum=-0.136;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=-0.361;QD=10.49;ReadPosRankSum=1.361;SB=-706.58;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_F2116L,Missense_F2116L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,47:103:99:1110,0,1222:54:99:0.456 chr1 228464633 . C G 453.03 PASS BaseQRankSum=-1.544;DP=44;Dels=0.00;FS=1.238;HRun=1;HaplotypeScore=7.4336;MQ=57;MQ0=0;MQRankSum=1.072;QD=10.30;ReadPosRankSum=0.955;SB=-212.55;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_L2164V,Missense_L2164V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,20:44:99:483,0,626:57:99:0.455 chr1 228471379 rs56168609 G C 2583.61 PASS BaseQRankSum=4.269;DP=209;Dels=0.00;FS=1.098;HRun=1;HaplotypeScore=7.1971;MQ=55;MQ0=0;MQRankSum=3.044;QD=12.36;ReadPosRankSum=2.177;SB=-1356.24;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_R2971R,Synonymous_R2971R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,102:209:99:2614,0,2519:55:99:0.488 chr1 228474032 . G A 726.63 PASS BaseQRankSum=-0.489;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.9185;MQ=58;MQ0=0;MQRankSum=-0.585;QD=16.51;ReadPosRankSum=-0.680;SB=-130.57;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_S3086S,Synonymous_S3086S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,26:44:99:757,0,565:58:99:0.591 chr1 228480282 rs1150908 A G 2102.85 PASS BaseQRankSum=2.034;DP=170;Dels=0.00;FS=2.800;HRun=1;HaplotypeScore=10.0384;MQ=55;MQ0=0;MQRankSum=2.474;QD=12.37;ReadPosRankSum=-0.140;SB=-1238.22;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_T3554T,Synonymous_T3554T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,89:170:99:2133,0,1990:55:99:0.524 chr1 228480441 . G A 1107.72 PASS BaseQRankSum=-0.716;DP=115;Dels=0.00;FS=0.764;HRun=0;HaplotypeScore=7.9920;MQ=57;MQ0=0;MQRankSum=3.862;QD=9.63;ReadPosRankSum=-1.601;SB=-435.57;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_S3607S,Synonymous_S3607S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,46:115:99:1138,0,1656:57:99:0.400 chr1 228482028 rs4653547 G C 1923.68 PASS BaseQRankSum=1.252;DP=204;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0678;MQ=55;MQ0=0;MQRankSum=1.506;QD=9.43;ReadPosRankSum=0.535;SB=-1363.70;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_L3769L,Synonymous_L3769L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,87:204:99:1954,0,2739:55:99:0.426 chr1 228494696 rs4653939 G A 1544.26 PASS BaseQRankSum=1.506;DP=120;Dels=0.00;FS=3.427;HRun=1;HaplotypeScore=3.5215;MQ=54;MQ0=0;MQRankSum=1.205;QD=12.87;ReadPosRankSum=-0.936;SB=-1083.36;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_A4007A,Synonymous_A4007A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,66:120:99:1574,0,1232:54:99:0.550 chr1 228496014 rs876180 G A 1867.07 PASS BaseQRankSum=2.479;DP=145;Dels=0.00;FS=0.633;HRun=0;HaplotypeScore=9.1023;MQ=56;MQ0=0;MQRankSum=2.791;QD=12.88;ReadPosRankSum=-0.652;SB=-1039.52;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_T4223T,Synonymous_T4223T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,75:145:99:1897,0,1527:56:99:0.521 chr1 228503677 rs1150912 A G 1197.77 PASS BaseQRankSum=0.404;DP=71;Dels=0.00;FS=3.191;HRun=0;HaplotypeScore=5.4993;MQ=56;MQ0=0;MQRankSum=1.737;QD=16.87;ReadPosRankSum=2.743;SB=-622.91;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_H4381R,Missense_H4381R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,42:71:99:1228,0,696:56:99:0.592 chr1 228504472 rs1188732 T C 1130.25 PASS BaseQRankSum=0.515;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=-0.934;QD=9.42;ReadPosRankSum=-0.303;SB=-582.77;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_C4450R,Missense_C4450R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,51:120:99:1160,0,1688:54:99:0.425 chr1 228504591 rs61825301 C A 1240.95 PASS BaseQRankSum=2.083;DP=140;Dels=0.00;FS=4.272;HRun=1;HaplotypeScore=5.6815;MQ=52;MQ0=0;MQRankSum=-0.506;QD=8.86;ReadPosRankSum=0.831;SB=-754.75;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_H4489Q,Missense_H4489Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,58:140:99:1271,0,2082:52:99:0.414 chr1 228504669 rs61825302 G A 619.38 PASS BaseQRankSum=-0.090;DP=49;Dels=0.00;FS=1.771;HRun=0;HaplotypeScore=4.5484;MQ=55;MQ0=0;MQRankSum=0.150;QD=12.64;ReadPosRankSum=-0.050;SB=-101.74;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_A4515A,Synonymous_A4515A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,26:49:99:649,0,722:55:99:0.531 chr1 228505204 rs4653942 G A 330.82 PASS BaseQRankSum=1.189;DP=27;Dels=0.00;FS=2.251;HRun=0;HaplotypeScore=3.6532;MQ=59;MQ0=0;MQRankSum=0.218;QD=12.25;ReadPosRankSum=-1.140;SB=-72.27;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_R4534H,Missense_R4534H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,13:27:99:361,0,444:59:99:0.481 chr1 228505668 rs1188729 C G 2297.40 PASS BaseQRankSum=1.622;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.9597;MQ=54;MQ0=0;MQRankSum=-2.682;QD=12.91;ReadPosRankSum=-0.298;SB=-1261.19;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_S4642C,Missense_S4642C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,92:178:99:2327,0,2239:54:99:0.520 chr1 228505699 rs1188728 T C 2703.29 PASS BaseQRankSum=1.735;DP=227;Dels=0.00;FS=1.033;HRun=0;HaplotypeScore=8.0537;MQ=53;MQ0=0;MQRankSum=-0.809;QD=11.91;ReadPosRankSum=-0.708;SB=-1884.84;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_G4652G,Synonymous_G4652G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,121:227:99:2733,0,2697:53:99:0.533 chr1 228505739 rs3795801 G A 2069.63 PASS BaseQRankSum=-0.389;DP=207;Dels=0.00;FS=0.528;HRun=0;HaplotypeScore=10.7923;MQ=53;MQ0=0;MQRankSum=0.052;QD=10.00;ReadPosRankSum=0.141;SB=-1173.08;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_G4666S,Missense_G4666S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,95:207:99:2100,0,2842:53:99:0.461 chr1 228509427 rs373610 A G 2263.27 PASS BaseQRankSum=0.231;DP=143;Dels=0.00;FS=0.641;HRun=2;HaplotypeScore=6.8065;MQ=56;MQ0=0;MQRankSum=-0.782;QD=15.83;ReadPosRankSum=1.720;SB=-1168.89;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Missense_D4962G,Missense_D4962G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,82:143:99:2293,0,1764:56:99:0.573 chr1 228526011 rs11577699 C T 1119.97 PASS BaseQRankSum=1.528;DP=97;Dels=0.00;FS=1.739;HRun=0;HaplotypeScore=10.8985;MQ=55;MQ0=0;MQRankSum=0.546;QD=11.55;ReadPosRankSum=0.539;SB=-646.83;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_A5674A,Synonymous_A5674A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,48:97:99:1150,0,1045:55:99:0.500 chr1 228547901 rs12035900 C T 3054.61 PASS BaseQRankSum=1.988;DP=242;Dels=0.00;FS=1.558;HRun=0;HaplotypeScore=15.0923;MQ=56;MQ0=0;MQRankSum=0.374;QD=12.62;ReadPosRankSum=-1.130;SB=-1983.24;TI=NM_052843,NM_001098623;GI=OBSCN,OBSCN;FC=Synonymous_D6436D,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,122:242:99:3085,0,2912:56:99:0.506 chr1 228550429 rs11585049 C T 1468.74 PASS BaseQRankSum=0.041;DP=112;Dels=0.00;FS=1.508;HRun=0;HaplotypeScore=8.9689;MQ=55;MQ0=0;MQRankSum=0.682;QD=13.11;ReadPosRankSum=1.935;SB=-943.49;TI=NM_001098623;GI=OBSCN;FC=Missense_P6272S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,59:112:99:1499,0,1163:55:99:0.527 chr1 228559299 . C T 545.44 PASS BaseQRankSum=-0.426;DP=45;Dels=0.00;FS=4.417;HRun=0;HaplotypeScore=5.4398;MQ=51;MQ0=0;MQRankSum=0.640;QD=12.12;ReadPosRankSum=-0.853;SB=-310.31;TI=NM_001098623;GI=OBSCN;FC=Synonymous_A6940A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,25:45:99:575,0,336:51:99:0.568 chr1 228560139 rs498382 A G 5691.76 PASS DP=187;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=16.4118;MQ=56;MQ0=0;QD=30.44;SB=-3413.03;TI=NM_001098623;GI=OBSCN;FC=Synonymous_S7220S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,186:186:99:5692,421,0:56:99:1.000 chr1 228560700 rs512253 T C 1128.65 SB DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59;MQ0=0;QD=36.41;SB=-0.01;TI=NM_001098623;GI=OBSCN;FC=Synonymous_D7407D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,31:31:90.26:1162,90,0:59:90:1.000 chr1 228602660 rs503203 G C 1517.27 PASS BaseQRankSum=0.158;DP=96;Dels=0.00;FS=7.061;HRun=0;HaplotypeScore=6.1764;MQ=58;MQ0=0;MQRankSum=-0.864;QD=15.80;ReadPosRankSum=0.857;SB=-494.88;TI=NM_016102,NM_001024940,NM_001134855;GI=TRIM17,TRIM17,TRIM17;FC=Synonymous_A38A,Synonymous_A38A,Synonymous_A38A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,52:96:99:1547,0,1240:58:99:0.542 chr1 228612838 rs2230656 G T 1892.20 PASS BaseQRankSum=0.294;DP=148;Dels=0.00;FS=1.311;HRun=0;HaplotypeScore=5.3431;MQ=52;MQ0=0;MQRankSum=0.698;QD=12.79;ReadPosRankSum=-3.738;SB=-1293.89;TI=NM_003493;GI=HIST3H3;FC=Synonymous_I63I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,80:148:99:1922,0,1554:52:99:0.541 chr1 229567660 . C CG 619.05 PASS BaseQRankSum=5.357;DP=51;FS=9.139;HRun=2;HaplotypeScore=262.9012;MQ=48;MQ0=0;MQRankSum=-5.156;QD=12.14;ReadPosRankSum=-0.653;SB=-112.29;TI=NM_001100;GI=ACTA1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,21:51:99:658,0,716:48:99:0.412 chr1 229568632 rs11803533 A G 578.28 PASS BaseQRankSum=1.236;DP=36;Dels=0.00;FS=7.791;HRun=1;HaplotypeScore=9.3778;MQ=55;MQ0=0;MQRankSum=0.761;QD=16.06;ReadPosRankSum=-0.602;SB=-221.20;TI=NM_001100;GI=ACTA1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,19:36:99:608,0,465:55:99:0.528 chr1 229568637 rs41271481 C G 544.29 PASS BaseQRankSum=1.717;DP=33;Dels=0.00;FS=3.192;HRun=1;HaplotypeScore=8.1883;MQ=56;MQ0=0;MQRankSum=0.850;QD=16.49;ReadPosRankSum=-0.813;SB=-230.29;TI=NM_001100;GI=ACTA1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,18:33:99:574,0,444:56:99:0.545 chr1 230841687 rs7080 T C 2737.73 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0730;MQ=58;MQ0=0;QD=32.59;SB=-630.18;TI=NM_000029;GI=AGT;FC=Synonymous_L372L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2771,205,0:58:99:1.000 chr1 230845794 rs699 A G 3916.26 PASS DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7634;MQ=54;MQ0=0;QD=30.13;SB=-1743.56;TI=NM_000029;GI=AGT;FC=Missense_M268T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:130:99:3916,286,0:54:99:1.000 chr1 231401902 rs574553 G A 2927.85 PASS DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5405;MQ=56;MQ0=0;QD=31.15;SB=-1451.20;TI=NM_014236;GI=GNPAT;FC=Synonymous_E305E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2961,220,0:56:99:1.000 chr1 231502230 . T TA 216.03 R8 BaseQRankSum=3.000;DP=119;FS=3.695;HRun=14;HaplotypeScore=389.0716;MQ=56;MQ0=0;MQRankSum=3.562;QD=1.82;ReadPosRankSum=0.097;SB=-61.18;TI=NM_022051;GI=EGLN1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,20:119:99:255,0,955:56:99:0.200 chr1 231906589 rs2492367 C T 1453.83 PASS DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=56;MQ0=0;QD=29.08;SB=-698.94;TI=NR_028395,NR_028397,NR_028398,NR_028396,NR_028394,NR_028393,NM_001164549,NM_001164545,NM_001164556,NM_001164544,NM_001164548,NM_001164539,NM_001012959,NM_001164542,NM_001164546,NM_001164547,NM_001164541,NM_001164538,NM_001012957,NM_018662,NM_001164537,NM_001164540;GI=TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_I469I,Synonymous_I469I,Synonymous_I119I,Synonymous_I469I,Synonymous_I469I,Synonymous_I469I,Synonymous_I469I,Synonymous_I469I,Synonymous_I469I,Synonymous_I469I,Synonymous_I469I,Synonymous_I469I,Synonymous_I469I,Synonymous_I469I,Synonymous_I501I,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:50:99:1487,108,0:56:99:1.000 chr1 231931048 rs2273890 T C 930.90 PASS BaseQRankSum=-0.671;DP=67;Dels=0.00;FS=3.415;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.467;QD=13.89;ReadPosRankSum=0.773;SB=-623.78;TI=NR_028395,NR_028397,NR_028398,NR_028396,NR_028394,NR_028393,NM_001164545,NM_001164556,NM_001164544,NM_001164548,NM_001164539,NM_001012959,NM_001164542,NM_001164546,NM_001164547,NM_001164541,NM_001164538,NM_001012957,NM_018662,NM_001164537,NM_001164540;GI=TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,40:67:99:961,0,634:54:99:0.597 chr1 231954145 rs12133766 G A 1690.30 PASS BaseQRankSum=2.716;DP=151;Dels=0.00;FS=0.599;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=0.780;QD=11.19;ReadPosRankSum=0.981;SB=-1193.73;TI=NR_028395,NR_028397,NR_028398,NR_028396,NR_028394,NR_028393,NM_001164545,NM_001164556,NM_001164544,NM_001164548,NM_001164539,NM_001012959,NM_001164542,NM_001164546,NM_001164547,NM_001164541,NM_001164538,NM_001012957,NM_018662,NM_001164537,NM_001164540,NR_002227;GI=TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC2;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L621L,Silent,Synonymous_L621L,Synonymous_L621L,Synonymous_L621L,Silent,Silent,Synonymous_L621L,Synonymous_L621L,Synonymous_L621L,Synonymous_L621L,Synonymous_L653L,Synonymous_L499L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,73:151:99:1720,0,1709:53:99:0.483 chr1 232002332 rs3081 C G 881.72 PASS BaseQRankSum=0.789;DP=80;Dels=0.00;FS=0.849;HRun=0;HaplotypeScore=0.9995;MQ=48;MQ0=0;MQRankSum=-1.232;QD=11.02;ReadPosRankSum=-0.606;SB=-604.05;TI=NR_028393,NM_001012959,NM_001164542,NM_001164546,NM_001164547,NM_001164541,NM_001164538,NM_001012957,NM_018662,NM_001164537,NM_001164540;GI=TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,39:80:99:912,0,916:48:99:0.488 chr1 232144598 rs821616 A T 966.93 PASS BaseQRankSum=-1.064;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5979;MQ=58;MQ0=0;MQRankSum=0.948;QD=15.85;ReadPosRankSum=-0.152;SB=-137.18;TI=NR_028393,NM_001164547,NM_001164541,NM_001164538,NM_001012957,NM_018662,NM_001164537,NM_001164540;GI=TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1;FC=Silent,Silent,Missense_R683S,Missense_S704C,Missense_S704C,Missense_S704C,Missense_S736C,Missense_S582C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,33:61:99:997,0,872:58:99:0.541 chr1 235826382 rs36014994 TA T 127.58 R8 BaseQRankSum=-0.154;DP=32;FS=0.000;HRun=13;HaplotypeScore=27.4772;MQ=55;MQ0=0;MQRankSum=0.286;QD=3.99;ReadPosRankSum=-0.110;SB=-69.21;TI=NM_000081;GI=LYST;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,9:32:99:167,0,402:55:99:0.300 chr1 236175339 rs2031487 T C 1014.41 PASS BaseQRankSum=0.920;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7878;MQ=52;MQ0=0;MQRankSum=-0.050;QD=10.91;ReadPosRankSum=-0.689;SB=-605.89;TI=NM_002508;GI=NID1;FC=Synonymous_V803V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,44:93:99:1044,0,1165:52:99:0.473 chr1 236187413 . G A 1021.16 PASS BaseQRankSum=-2.269;DP=94;Dels=0.00;FS=5.192;HRun=0;HaplotypeScore=1.8939;MQ=53;MQ0=0;MQRankSum=0.789;QD=10.86;ReadPosRankSum=-0.721;SB=-630.54;TI=NM_002508;GI=NID1;FC=Synonymous_C695C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,43:94:99:1051,0,1231:53:99:0.457 chr1 236208773 rs10733133 C T 2034.98 PASS BaseQRankSum=1.796;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8835;MQ=56;MQ0=0;MQRankSum=0.307;QD=13.75;ReadPosRankSum=1.405;SB=-884.39;TI=NM_002508;GI=NID1;FC=Missense_V246I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,77:148:99:2065,0,1735:56:99:0.520 chr1 236557771 rs966365 G A 4817.08 PASS DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1994;MQ=52;MQ0=0;QD=27.06;SB=-3152.78;TI=NM_145861;GI=EDARADD;FC=Missense_M9I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,178:178:99:4817,343,0:52:99:1.000 chr1 236645670 rs604070 C T 2048.81 PASS BaseQRankSum=3.780;DP=209;Dels=0.00;FS=2.548;HRun=0;HaplotypeScore=4.7570;MQ=54;MQ0=0;MQRankSum=3.499;QD=9.80;ReadPosRankSum=-0.298;SB=-895.11;TI=NM_145861,NM_080738;GI=EDARADD,EDARADD;FC=Synonymous_D123D,Synonymous_D113D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,85:209:99:2079,0,3258:54:99:0.409 chr1 236882303 rs1341864 T C 1879.08 PASS DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=54;MQ0=0;QD=25.39;SB=-1282.43;TI=NM_001103;GI=ACTN2;FC=Synonymous_I117I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:74:99:1912,135,0:54:99:1.000 chr1 236883421 rs1341863 C T 2251.53 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8924;MQ=53;MQ0=0;QD=29.24;SB=-1476.44;TI=NM_001103;GI=ACTN2;FC=Synonymous_N126N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2285,166,0:53:99:1.000 chr1 236902594 rs2288601 C G 1381.54 PASS DP=44;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.3670;MQ=59;MQ0=0;QD=31.40;SB=-302.42;TI=NM_001103;GI=ACTN2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:99:1415,111,0:59:99:1.000 chr1 237024414 rs78575549 G T 30.55 SB BaseQRankSum=-2.177;DP=40;Dels=0.08;FS=17.042;HRun=16;HaplotypeScore=23.1686;MQ=47;MQ0=0;MQRankSum=-2.000;QD=0.76;ReadPosRankSum=-0.159;SB=-0.01;TI=NM_000254;GI=MTR;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,9:37:60.54:61,0,628:47:31:0.243 chr1 237024416 rs75100422 C T 57.62 SB BaseQRankSum=-2.711;DP=45;Dels=0.02;FS=17.732;HRun=6;HaplotypeScore=25.0415;MQ=48;MQ0=0;MQRankSum=-1.600;QD=1.28;ReadPosRankSum=1.547;SB=-0.01;TI=NM_000254;GI=MTR;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,13:44:87.61:88,0,714:48:58:0.302 chr1 237540615 rs10925391 A C 142.38 LowDP BaseQRankSum=-1.237;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.412;QD=9.49;ReadPosRankSum=-0.884;SB=-24.98;TI=NM_001035;GI=RYR2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,6:15:99:172,0,215:57:99:0.400 chr1 237551376 rs10754602 T A 1565.18 PASS BaseQRankSum=1.384;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8937;MQ=55;MQ0=0;MQRankSum=-1.451;QD=25.66;ReadPosRankSum=-2.518;SB=-1069.91;TI=NM_001035;GI=RYR2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,58:61:75.63:1598,76,0:55:76:0.951 chr1 237586384 rs16835237 T C 693.62 PASS BaseQRankSum=2.137;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8938;MQ=57;MQ0=0;MQRankSum=0.609;QD=16.51;ReadPosRankSum=-1.515;SB=-211.23;TI=NM_001035;GI=RYR2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,26:42:99:724,0,382:57:99:0.619 chr1 237711797 rs2253273 A G 2844.51 PASS DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=49;MQ0=0;QD=26.34;SB=-2018.33;TI=NM_001035;GI=RYR2;FC=Synonymous_S991S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:2878,205,0:49:99:1.000 chr1 237801770 rs707189 T C 4689.49 PASS BaseQRankSum=-0.167;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5717;MQ=52;MQ0=0;MQRankSum=-0.250;QD=28.25;ReadPosRankSum=0.793;SB=-2745.81;TI=NM_001035;GI=RYR2;FC=Synonymous_L2302L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,165:166:99:4689,302,0:52:99:0.994 chr1 237814783 rs684923 C T 696.58 PASS BaseQRankSum=2.398;DP=54;Dels=0.00;FS=1.038;HRun=0;HaplotypeScore=3.7876;MQ=55;MQ0=0;MQRankSum=0.182;QD=12.90;ReadPosRankSum=0.355;SB=-418.98;TI=NM_001035;GI=RYR2;FC=Synonymous_H2602H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,28:54:99:727,0,653:55:99:0.519 chr1 237841390 rs34967813 A G 925.48 PASS BaseQRankSum=2.051;DP=87;Dels=0.00;FS=0.814;HRun=0;HaplotypeScore=1.8938;MQ=55;MQ0=0;MQRankSum=-0.072;QD=10.64;ReadPosRankSum=0.183;SB=-649.50;TI=NM_001035;GI=RYR2;FC=Missense_Q2958R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,42:87:99:955,0,1029:55:99:0.483 chr1 237863718 rs2797436 T G 1700.79 PASS BaseQRankSum=1.567;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0554;MQ=52;MQ0=0;MQRankSum=1.677;QD=27.00;ReadPosRankSum=1.677;SB=-1099.17;TI=NM_001035;GI=RYR2;FC=Synonymous_S3106S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,62:63:99:1734,132,0:52:99:0.984 chr1 237881770 rs2797441 C T 3319.89 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=29.38;SB=-1874.77;TI=NM_001035;GI=RYR2;FC=Synonymous_T3501T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3320,238,0:54:99:1.000 chr1 237890437 rs2685301 C T 2143.18 PASS BaseQRankSum=1.687;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;MQRankSum=1.552;QD=27.83;ReadPosRankSum=0.697;SB=-1118.90;TI=NM_001035;GI=RYR2;FC=Synonymous_S3592S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,76:77:99:2176,160,0:50:99:0.987 chr1 237946964 rs790889 T C 728.20 PASS BaseQRankSum=0.294;DP=53;Dels=0.00;FS=2.095;HRun=1;HaplotypeScore=2.7880;MQ=60;MQ0=0;MQRankSum=-0.454;QD=13.74;ReadPosRankSum=-1.114;SB=-28.61;TI=NM_001035;GI=RYR2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,25:53:99:758,0,879:60:99:0.472 chr1 237957161 rs790901 A G 1291.38 PASS DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.07;SB=-672.67;TI=NM_001035;GI=RYR2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:96.31:1324,96,0:54:96:1.000 chr1 240255568 . GGGC G 1203.88 PASS BaseQRankSum=1.500;DP=58;FS=2.913;HRun=0;HaplotypeScore=105.2445;MQ=54;MQ0=0;MQRankSum=0.387;QD=20.76;ReadPosRankSum=0.462;SB=-207.72;TI=NM_020066;GI=FMN2;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,25:58:99:1243,0,1085:54:99:0.431 chr1 240341334 . C T 533.35 PASS BaseQRankSum=-1.623;DP=64;Dels=0.00;FS=0.977;HRun=0;HaplotypeScore=3.5764;MQ=48;MQ0=0;MQRankSum=1.413;QD=8.33;ReadPosRankSum=0.490;SB=-341.83;TI=NM_020066;GI=FMN2;FC=Synonymous_P632P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,23:64:99:563,0,1010:48:99:0.359 chr1 240370907 . T C 95.99 LowVariantFreq;SB BaseQRankSum=-0.856;DP=82;Dels=0.01;FS=40.995;HRun=3;HaplotypeScore=54.6101;MQ=47;MQ0=0;MQRankSum=-3.356;QD=1.17;ReadPosRankSum=1.744;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Missense_L932P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,15:81:99:126,0,1495:47:96:0.190 chr1 240370913 . T C 96.09 LowVariantFreq;SB BaseQRankSum=0.486;DP=70;Dels=0.00;FS=29.587;HRun=1;HaplotypeScore=46.8373;MQ=46;MQ0=0;MQRankSum=-3.264;QD=1.37;ReadPosRankSum=2.207;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Missense_L934P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,10:70:99:126,0,1311:46:96:0.145 chr1 240370934 rs4997328 G C 160.55 LowVariantFreq BaseQRankSum=-0.921;DP=54;Dels=0.00;FS=1.531;HRun=0;HaplotypeScore=50.1943;MQ=39;MQ0=0;MQRankSum=-0.148;QD=2.97;ReadPosRankSum=-2.785;SB=-74.24;TI=NM_020066;GI=FMN2;FC=Missense_G941A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,10:54:99:191,0,881:39:99:0.189 chr1 240370941 rs4997329 T C 216.02 PASS BaseQRankSum=0.397;DP=47;Dels=0.00;FS=3.900;HRun=2;HaplotypeScore=54.7697;MQ=38;MQ0=0;MQRankSum=-1.601;QD=4.60;ReadPosRankSum=-1.360;SB=-105.73;TI=NM_020066;GI=FMN2;FC=Synonymous_P943P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,15:47:99:246,0,596:38:99:0.333 chr1 240370956 . A T 44.49 PASS BaseQRankSum=-0.761;DP=45;Dels=0.00;FS=2.378;HRun=1;HaplotypeScore=45.5510;MQ=37;MQ0=0;MQRankSum=-1.418;QD=0.99;ReadPosRankSum=0.911;SB=-15.76;TI=NM_020066;GI=FMN2;FC=Synonymous_L948L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,9:45:74.48:74,0,648:37:44:0.209 chr1 240370967 . C G 16.06 SB BaseQRankSum=-2.358;DP=40;Dels=0.00;FS=9.556;HRun=2;HaplotypeScore=26.4355;MQ=36;MQ0=0;MQRankSum=-1.640;QD=0.40;ReadPosRankSum=1.421;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Missense_A952G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,10:40:45.95:46,0,729:36:16:0.250 chr1 240370968 . A C 32.69 SB BaseQRankSum=-3.241;DP=41;Dels=0.02;FS=13.819;HRun=1;HaplotypeScore=32.4204;MQ=36;MQ0=0;MQRankSum=-1.567;QD=0.80;ReadPosRankSum=1.628;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_A952A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,12:40:62.68:63,0,669:36:33:0.308 chr1 240370985 . C T 10.48 LowVariantFreq BaseQRankSum=-0.378;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=48.6726;MQ=33;MQ0=0;MQRankSum=-0.327;QD=0.29;ReadPosRankSum=1.686;SB=-18.01;TI=NM_020066;GI=FMN2;FC=Missense_P958L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,4:36:40.06:40,0,629:33:10:0.111 chr1 240370995 . G A 90.02 PASS BaseQRankSum=0.346;DP=33;Dels=0.00;FS=2.271;HRun=0;HaplotypeScore=48.8677;MQ=32;MQ0=0;MQRankSum=-0.793;QD=2.73;ReadPosRankSum=-2.094;SB=-22.08;TI=NM_020066;GI=FMN2;FC=Synonymous_G961G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,10:33:99:120,0,396:32:90:0.313 chr1 240370998 . A G 115.60 PASS BaseQRankSum=-0.741;DP=33;Dels=0.00;FS=5.715;HRun=2;HaplotypeScore=22.5453;MQ=32;MQ0=0;MQRankSum=-2.138;QD=3.50;ReadPosRankSum=-1.249;SB=-21.97;TI=NM_020066;GI=FMN2;FC=Synonymous_A962A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,12:33:99:146,0,406:32:99:0.400 chr1 240371009 . T C 137.27 PASS BaseQRankSum=0.348;DP=35;Dels=0.00;FS=7.968;HRun=4;HaplotypeScore=23.3539;MQ=28;MQ0=0;MQRankSum=-1.407;QD=3.92;ReadPosRankSum=-0.149;SB=-12.30;TI=NM_020066;GI=FMN2;FC=Missense_L966P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,16:35:99:167,0,411:28:99:0.457 chr1 240371028 . A G 39.50 LowVariantFreq BaseQRankSum=-0.429;DP=37;Dels=0.00;FS=2.696;HRun=2;HaplotypeScore=61.7378;MQ=28;MQ0=1;MQRankSum=0.655;QD=1.07;ReadPosRankSum=1.604;SB=-29.69;TI=NM_020066;GI=FMN2;FC=Synonymous_G972G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,6:37:69.49:69,0,588:28:40:0.171 chr1 240371031 . A G 50.26 SB BaseQRankSum=-1.110;DP=36;Dels=0.00;FS=21.021;HRun=2;HaplotypeScore=50.6339;MQ=28;MQ0=1;MQRankSum=-1.763;QD=1.40;ReadPosRankSum=-1.371;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_A973A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,9:36:80.25:80,0,581:28:50:0.281 chr1 240371034 . A C 161.33 SB BaseQRankSum=-1.938;DP=41;Dels=0.00;FS=30.149;HRun=0;HaplotypeScore=50.9680;MQ=28;MQ0=1;MQRankSum=-2.092;QD=3.93;ReadPosRankSum=-0.862;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_G974G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,13:41:99:191,0,607:28:99:0.333 chr1 240371040 . T C 6.06 LowGQX;SB BaseQRankSum=-1.134;DP=44;Dels=0.00;FS=14.569;HRun=2;HaplotypeScore=41.8027;MQ=27;MQ0=1;MQRankSum=-0.184;QD=0.14;ReadPosRankSum=-0.368;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P976P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,9:44:34.81:35,0,758:27:6:0.209 chr1 240371079 . T G 86.54 SB BaseQRankSum=-1.375;DP=73;Dels=0.00;FS=19.799;HRun=0;HaplotypeScore=71.3150;MQ=26;MQ0=1;MQRankSum=-1.128;QD=1.19;ReadPosRankSum=-0.469;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P989P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,18:73:99:117,0,731:26:87:0.300 chr1 240371085 rs71646826 A T 61.78 LowVariantFreq;SB BaseQRankSum=-0.730;DP=78;Dels=0.00;FS=4.384;HRun=0;HaplotypeScore=93.0802;MQ=26;MQ0=5;MQRankSum=0.730;QD=0.79;ReadPosRankSum=-0.150;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P991P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,11:78:91.78:92,0,785:26:62:0.177 chr1 240371109 . T C 167.35 SB BaseQRankSum=-3.542;DP=79;Dels=0.00;FS=15.051;HRun=5;HaplotypeScore=130.8322;MQ=24;MQ0=8;MQRankSum=0.711;QD=2.12;ReadPosRankSum=0.564;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P999P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,25:79:99:197,0,696:24:99:0.325 chr1 240371112 rs71646889 G C 257.50 SB BaseQRankSum=-2.994;DP=78;Dels=0.00;FS=9.040;HRun=5;HaplotypeScore=149.2718;MQ=24;MQ0=8;MQRankSum=1.196;QD=3.30;ReadPosRankSum=1.509;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1000P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,26:78:99:287,0,428:24:99:0.406 chr1 240371118 rs71646890 A C 90.03 SB BaseQRankSum=-2.509;DP=82;Dels=0.00;FS=17.194;HRun=5;HaplotypeScore=170.1939;MQ=23;MQ0=12;MQRankSum=-0.699;QD=1.10;ReadPosRankSum=1.140;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1002P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,23:82:99:120,0,530:23:90:0.329 chr1 240371121 rs71646891 T A 50.17 LowVariantFreq;SB BaseQRankSum=1.774;DP=85;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=170.3161;MQ=23;MQ0=12;MQRankSum=0.472;QD=0.59;ReadPosRankSum=-1.459;SB=-3.36;TI=NM_020066;GI=FMN2;FC=Synonymous_L1003L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,9:84:80.16:80,0,699:23:50:0.123 chr1 240371142 . T C 59.66 SB BaseQRankSum=-3.448;DP=98;Dels=0.01;FS=11.979;HRun=5;HaplotypeScore=157.4408;MQ=24;MQ0=14;MQRankSum=-0.244;QD=0.61;ReadPosRankSum=-0.547;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1010P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,24:97:89.65:90,0,914:24:60:0.264 chr1 240371145 rs71535326 T C 311.39 PASS BaseQRankSum=-2.233;DP=99;Dels=0.01;FS=3.148;HRun=5;HaplotypeScore=146.7506;MQ=24;MQ0=14;MQRankSum=1.175;QD=3.15;ReadPosRankSum=-0.961;SB=-58.22;TI=NM_020066;GI=FMN2;FC=Synonymous_P1011P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,29:98:99:341,0,771:24:99:0.312 chr1 240371151 rs71646892 T C 207.98 SB BaseQRankSum=-0.169;DP=88;Dels=0.00;FS=11.781;HRun=5;HaplotypeScore=122.5452;MQ=24;MQ0=14;MQRankSum=2.373;QD=2.36;ReadPosRankSum=1.520;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1013P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,16:88:99:238,0,449:24:99:0.222 chr1 240371172 rs71297736 T C 346.30 SB BaseQRankSum=-0.712;DP=100;Dels=0.01;FS=35.848;HRun=2;HaplotypeScore=106.8536;MQ=26;MQ0=16;MQRankSum=1.668;QD=3.46;ReadPosRankSum=-0.776;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1020P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,23:99:99:376,0,1014:26:99:0.235 chr1 240371178 . A G 238.93 PASS BaseQRankSum=-0.307;DP=102;Dels=0.01;FS=1.345;HRun=0;HaplotypeScore=118.6145;MQ=26;MQ0=15;MQRankSum=2.431;QD=2.34;ReadPosRankSum=0.052;SB=-104.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1022P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,19:101:99:269,0,899:26:99:0.235 chr1 240371208 . T C 155.19 LowVariantFreq;SB BaseQRankSum=-1.167;DP=105;Dels=0.01;FS=30.895;HRun=5;HaplotypeScore=128.6672;MQ=26;MQ0=8;MQRankSum=1.921;QD=1.48;ReadPosRankSum=0.563;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1032P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,17:104:99:185,0,1158:26:99:0.170 chr1 240371211 . G C 130.80 SB BaseQRankSum=-2.986;DP=103;Dels=0.01;FS=31.133;HRun=5;HaplotypeScore=156.5549;MQ=27;MQ0=7;MQRankSum=1.603;QD=1.27;ReadPosRankSum=0.010;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1033P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,21:102:99:161,0,1250:27:99:0.219 chr1 240371217 . A C 496.08 SB BaseQRankSum=-2.868;DP=100;Dels=0.00;FS=72.951;HRun=5;HaplotypeScore=180.6768;MQ=26;MQ0=9;MQRankSum=2.187;QD=4.96;ReadPosRankSum=0.208;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1035P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,34:100:99:526,0,656:26:99:0.405 chr1 240371220 . T A 61.07 LowVariantFreq;SB BaseQRankSum=1.293;DP=101;Dels=0.00;FS=3.582;HRun=0;HaplotypeScore=172.7591;MQ=26;MQ0=11;MQRankSum=-0.181;QD=0.60;ReadPosRankSum=0.051;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_L1036L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,12:101:91.06:91,0,1061:26:61:0.143 chr1 240371224 . G C 117.47 SB BaseQRankSum=-3.341;DP=101;Dels=0.00;FS=32.333;HRun=3;HaplotypeScore=182.5704;MQ=26;MQ0=14;MQRankSum=0.979;QD=1.16;ReadPosRankSum=-1.290;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Missense_G1038R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,20:101:99:147,0,1082:26:99:0.202 chr1 240371241 . T C 359.70 SB BaseQRankSum=-4.350;DP=95;Dels=0.00;FS=81.275;HRun=5;HaplotypeScore=106.9261;MQ=27;MQ0=8;MQRankSum=1.605;QD=3.79;ReadPosRankSum=-1.838;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1043P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,33:95:99:390,0,935:27:99:0.363 chr1 240371244 . G C 450.52 SB BaseQRankSum=-3.814;DP=94;Dels=0.00;FS=94.310;HRun=5;HaplotypeScore=101.7117;MQ=27;MQ0=8;MQRankSum=2.826;QD=4.79;ReadPosRankSum=-2.033;SB=0.03;TI=NM_020066;GI=FMN2;FC=Synonymous_P1044P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,33:94:99:481,0,724:27:99:0.388 chr1 240371250 . A C 360.68 SB BaseQRankSum=-2.358;DP=92;Dels=0.01;FS=79.062;HRun=5;HaplotypeScore=208.7649;MQ=26;MQ0=10;MQRankSum=1.716;QD=3.92;ReadPosRankSum=0.034;SB=0.08;TI=NM_020066;GI=FMN2;FC=Synonymous_P1046P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,27:91:99:391,0,652:26:99:0.365 chr1 240371257 . G C 108.29 SB BaseQRankSum=-3.534;DP=94;Dels=0.01;FS=44.672;HRun=3;HaplotypeScore=194.4550;MQ=26;MQ0=11;MQRankSum=0.062;QD=1.15;ReadPosRankSum=0.700;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Missense_G1049R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,19:93:99:138,0,1186:26:99:0.204 chr1 240371274 . T C 78.24 SB BaseQRankSum=-3.757;DP=96;Dels=0.00;FS=42.883;HRun=5;HaplotypeScore=81.2736;MQ=25;MQ0=17;MQRankSum=2.577;QD=0.81;ReadPosRankSum=-1.811;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1054P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,20:96:99:108,0,958:25:78:0.215 chr1 240371277 . T C 169.09 SB BaseQRankSum=-2.651;DP=96;Dels=0.01;FS=54.507;HRun=5;HaplotypeScore=73.9274;MQ=25;MQ0=17;MQRankSum=2.044;QD=1.76;ReadPosRankSum=-2.159;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1055P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,22:95:99:199,0,850:25:99:0.237 chr1 240371283 . T C 44.29 LowVariantFreq;SB BaseQRankSum=-2.287;DP=80;Dels=0.01;FS=34.640;HRun=5;HaplotypeScore=75.2361;MQ=25;MQ0=18;MQRankSum=2.481;QD=0.55;ReadPosRankSum=-0.360;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1057P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,11:79:74.28:74,0,798:25:44:0.143 chr1 240371310 . A C 7.76 LowGQX;LowVariantFreq;SB BaseQRankSum=-1.418;DP=75;Dels=0.00;FS=18.146;HRun=5;HaplotypeScore=55.4586;MQ=24;MQ0=18;MQRankSum=0.453;QD=0.10;ReadPosRankSum=0.804;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1066P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,6:75:36.96:37,0,780:24:8:0.090 chr1 240371327 . C T 21.48 LowVariantFreq;SB BaseQRankSum=-0.449;DP=84;Dels=0.00;FS=32.463;HRun=0;HaplotypeScore=39.4760;MQ=24;MQ0=18;MQRankSum=0.290;QD=0.26;ReadPosRankSum=-0.329;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Missense_A1072V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,15:84:51.44:51,0,1214:24:21:0.181 chr1 240371349 . A C 52.97 LowVariantFreq;SB BaseQRankSum=-1.222;DP=84;Dels=0.00;FS=57.194;HRun=5;HaplotypeScore=62.3592;MQ=25;MQ0=17;MQRankSum=-1.186;QD=0.63;ReadPosRankSum=-0.625;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1079P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,11:84:82.96:83,0,1151:25:53:0.138 chr1 240371376 . T C 100.11 LowVariantFreq;SB BaseQRankSum=-1.537;DP=79;Dels=0.00;FS=54.708;HRun=5;HaplotypeScore=57.1593;MQ=27;MQ0=5;MQRankSum=0.512;QD=1.27;ReadPosRankSum=-1.113;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1088P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,13:79:99:130,0,1337:27:99:0.169 chr1 240371426 . T C 823.97 PASS BaseQRankSum=1.557;DP=68;Dels=0.00;FS=8.056;HRun=0;HaplotypeScore=55.5319;MQ=26;MQ0=2;MQRankSum=-0.196;QD=12.12;ReadPosRankSum=0.020;SB=-85.21;TI=NM_020066;GI=FMN2;FC=Missense_V1105A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,41:68:99:854,0,480:26:99:0.612 chr1 240371475 . T C 21.50 SB BaseQRankSum=-2.577;DP=57;Dels=0.00;FS=20.373;HRun=5;HaplotypeScore=46.4235;MQ=29;MQ0=2;MQRankSum=-0.067;QD=0.38;ReadPosRankSum=-2.129;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1121P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,11:57:51.47:51,0,819:29:22:0.204 chr1 240371481 . T C 7.29 LowGQX;LowVariantFreq;SB BaseQRankSum=-1.838;DP=62;Dels=0.00;FS=28.615;HRun=5;HaplotypeScore=48.4641;MQ=28;MQ0=3;MQRankSum=0.477;QD=0.12;ReadPosRankSum=0.119;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1123P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,7:62:36.39:36,0,1025:28:7:0.115 chr1 240371505 . T C 15.12 LowVariantFreq;SB BaseQRankSum=-2.439;DP=50;Dels=0.00;FS=27.002;HRun=5;HaplotypeScore=23.8897;MQ=28;MQ0=4;MQRankSum=0.866;QD=0.30;ReadPosRankSum=-1.219;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1131P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,7:50:44.97:45,0,660:28:15:0.146 chr1 240371535 . T C 66.94 LowVariantFreq;SB BaseQRankSum=-2.147;DP=46;Dels=0.00;FS=30.699;HRun=2;HaplotypeScore=38.6497;MQ=28;MQ0=5;MQRankSum=0.085;QD=1.46;ReadPosRankSum=1.099;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1141P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,8:46:96.93:97,0,643:28:67:0.178 chr1 240371538 . T C 21.83 LowVariantFreq;SB BaseQRankSum=-2.342;DP=43;Dels=0.00;FS=25.580;HRun=2;HaplotypeScore=39.9795;MQ=25;MQ0=5;MQRankSum=0.460;QD=0.51;ReadPosRankSum=-0.901;SB=-0.01;TI=NM_020066;GI=FMN2;FC=Synonymous_P1142P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,6:43:51.79:52,0,618:25:22:0.140 chr1 240371541 . A G 308.77 PASS BaseQRankSum=0.695;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=42.2397;MQ=26;MQ0=4;MQRankSum=0.020;QD=7.35;ReadPosRankSum=0.139;SB=-31.79;TI=NM_020066;GI=FMN2;FC=Synonymous_P1143P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,19:42:99:339,0,244:26:99:0.543 chr1 240371547 . T C 15.20 LowVariantFreq;SB BaseQRankSum=-2.475;DP=40;Dels=0.00;FS=33.274;HRun=5;HaplotypeScore=38.8933;MQ=25;MQ0=5;MQRankSum=0.731;QD=0.38;ReadPosRankSum=0.825;SB=0.14;TI=NM_020066;GI=FMN2;FC=Synonymous_P1145P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,5:40:45.06:45,0,615:25:15:0.125 chr1 240371554 rs12732924 A G 560.62 PASS BaseQRankSum=1.362;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=34.6772;MQ=25;MQ0=5;MQRankSum=0.371;QD=16.02;ReadPosRankSum=-0.619;SB=-64.27;TI=NM_020066;GI=FMN2;FC=Missense_R1148G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,32:35:54.11:594,54,0:25:54:0.970 chr1 240371571 . T C 40.86 LowVariantFreq;SB BaseQRankSum=-1.822;DP=31;Dels=0.00;FS=27.868;HRun=5;HaplotypeScore=13.7310;MQ=24;MQ0=5;MQRankSum=0.911;QD=1.32;ReadPosRankSum=-1.236;SB=0.09;TI=NM_020066;GI=FMN2;FC=Synonymous_P1153P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,5:31:70.86:71,0,405:24:41:0.161 chr1 240492734 rs3795677 G A 1167.29 PASS BaseQRankSum=-1.054;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5656;MQ=54;MQ0=0;MQRankSum=0.119;QD=13.12;ReadPosRankSum=0.792;SB=-540.86;TI=NM_020066;GI=FMN2;FC=Missense_R1468H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,45:89:99:1197,0,1208:54:99:0.506 chr1 240975213 rs2275742 T C 865.02 PASS BaseQRankSum=0.696;DP=84;Dels=0.00;FS=1.823;HRun=0;HaplotypeScore=1.7882;MQ=51;MQ0=0;MQRankSum=0.463;QD=10.30;ReadPosRankSum=-1.290;SB=-485.90;TI=NM_002924;GI=RGS7;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,38:84:99:895,0,1040:51:99:0.452 chr1 241667378 . A G 1462.94 PASS BaseQRankSum=0.200;DP=115;Dels=0.00;FS=4.701;HRun=1;HaplotypeScore=6.6814;MQ=55;MQ0=0;MQRankSum=-0.808;QD=12.72;ReadPosRankSum=-0.785;SB=-1035.55;TI=NM_000143;GI=FH;FC=Synonymous_L358L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,64:115:99:1493,0,1332:55:99:0.557 chr1 242030151 rs735943 A G 2292.56 PASS DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6362;MQ=56;MQ0=0;QD=30.17;SB=-1218.14;TI=NM_130398,NM_006027,NM_003686;GI=EXO1,EXO1,EXO1;FC=Missense_H354R,Missense_H354R,Missense_H354R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2326,172,0:56:99:1.000 chr1 242035438 rs4149965 G A 1029.52 PASS BaseQRankSum=0.268;DP=87;Dels=0.00;FS=4.043;HRun=2;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=0.268;QD=11.83;ReadPosRankSum=0.923;SB=-654.80;TI=NM_130398,NM_006027,NM_003686;GI=EXO1,EXO1,EXO1;FC=Missense_V458M,Missense_V458M,Missense_V458M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,41:87:99:1060,0,1250:55:99:0.471 chr1 242042301 rs1047840 G A 2101.62 PASS BaseQRankSum=1.963;DP=174;Dels=0.00;FS=1.898;HRun=1;HaplotypeScore=8.3535;MQ=56;MQ0=0;MQRankSum=0.409;QD=12.08;ReadPosRankSum=-1.123;SB=-1183.93;TI=NM_130398,NM_006027,NM_003686;GI=EXO1,EXO1,EXO1;FC=Missense_E589K,Missense_E589K,Missense_E589K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,85:174:99:2132,0,2184:56:99:0.489 chr1 242042545 rs1776148 A G 208.37 SB;LowDP BaseQRankSum=0.421;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9638;MQ=60;MQ0=0;MQRankSum=0.201;QD=14.88;ReadPosRankSum=0.068;SB=-0.01;TI=NM_130398,NM_006027,NM_003686;GI=EXO1,EXO1,EXO1;FC=Missense_E670G,Missense_E670G,Missense_E670G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,7:14:99:238,0,202:60:99:0.500 chr1 242045275 rs1635498 C T 3553.26 PASS DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5022;MQ=56;MQ0=0;QD=30.11;SB=-2152.42;TI=NM_130398,NM_006027,NM_003686;GI=EXO1,EXO1,EXO1;FC=Missense_R723C,Missense_R723C,Missense_R723C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,118:118:99:3553,259,0:56:99:1.000 chr1 243493907 rs2275155 A T 787.62 PASS BaseQRankSum=-0.487;DP=69;Dels=0.00;FS=0.928;HRun=0;HaplotypeScore=4.4430;MQ=56;MQ0=0;MQRankSum=0.535;QD=11.41;ReadPosRankSum=-0.018;SB=-452.71;TI=NM_006642;GI=SDCCAG8;FC=Missense_E378D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,37:69:99:818,0,753:56:99:0.536 chr1 243579112 rs10927011 G A 731.66 PASS BaseQRankSum=1.927;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8661;MQ=55;MQ0=0;MQRankSum=1.033;QD=15.24;ReadPosRankSum=-0.245;SB=-392.12;TI=NM_006642;GI=SDCCAG8;FC=Synonymous_E575E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,30:48:99:762,0,499:55:99:0.625 chr1 244217376 . C A 3.90 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=4.771;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.736;QD=1.30;ReadPosRankSum=-0.736;SB=-0.01;TI=NM_205768,NM_006352;GI=ZNF238,ZNF238;FC=Missense_D100E,Missense_D91E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:31.62:32,0,72:60:4:0.333 chr1 245019931 . T A 1512.80 PASS BaseQRankSum=2.260;DP=129;Dels=0.00;FS=0.658;HRun=7;HaplotypeScore=5.5627;MQ=58;MQ0=0;MQRankSum=0.088;QD=11.73;ReadPosRankSum=0.742;SB=-815.29;TI=NM_031844,NM_004501;GI=HNRNPU,HNRNPU;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,57:129:99:1543,0,1993:58:99:0.442 chr1 246021941 rs2362587 T C 2483.43 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=29.56;SB=-1396.45;TI=NM_022743,NM_001167740;GI=SMYD3,SMYD3;FC=Synonymous_A252A,Synonymous_A311A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2516,184,0:57:99:1.000 chr1 246670481 rs7520453 C G 4921.69 PASS DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9101;MQ=54;MQ0=0;QD=27.19;SB=-3428.14;TI=NM_001167740;GI=SMYD3;FC=Missense_K13N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,181:181:99:4922,355,0:54:99:1.000 chr1 247587477 rs3806268 G A 1555.80 PASS BaseQRankSum=0.241;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4152;MQ=58;MQ0=0;MQRankSum=0.079;QD=13.89;ReadPosRankSum=-0.236;SB=-772.90;TI=NM_001079821,NM_001127461,NM_004895,NM_001127462,NM_183395;GI=NLRP3,NLRP3,NLRP3,NLRP3,NLRP3;FC=Synonymous_A244A,Synonymous_A244A,Synonymous_A244A,Synonymous_A244A,Synonymous_A244A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,56:112:99:1586,0,1689:58:99:0.500 chr1 247587531 rs4925543 A G 4283.01 PASS BaseQRankSum=0.485;DP=125;Dels=0.00;FS=3.668;HRun=1;HaplotypeScore=10.7411;MQ=56;MQ0=0;MQRankSum=1.483;QD=34.26;ReadPosRankSum=0.346;SB=-1964.49;TI=NM_001079821,NM_001127461,NM_004895,NM_001127462,NM_183395;GI=NLRP3,NLRP3,NLRP3,NLRP3,NLRP3;FC=Synonymous_R262R,Synonymous_R262R,Synonymous_R262R,Synonymous_R262R,Synonymous_R262R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,124:125:99:4283,298,0:56:99:0.992 chr1 247835908 rs28556931 T A 47.51 LowDP BaseQRankSum=-0.421;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=-0.922;QD=5.94;ReadPosRankSum=0.421;SB=-67.29;TI=NM_001005487;GI=OR13G1;FC=Missense_M146L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,4:8:77.50:77,0,77:55:48:0.500 chr1 247835950 rs1151640 T C 34.40 LowDP BaseQRankSum=0.727;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.727;QD=8.60;ReadPosRankSum=0.727;SB=-40.65;TI=NM_001005487;GI=OR13G1;FC=Missense_I132V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,3:4:30.98:64,0,31:60:31:0.750 chr1 247835998 . C A 3.90 LowGQX;SB;LowDP BaseQRankSum=0.727;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.727;QD=0.98;ReadPosRankSum=-0.727;SB=-0.01;TI=NM_001005487;GI=OR13G1;FC=Missense_A116S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,1:4:31.62:32,0,63:60:4:0.250 chr1 247836008 rs28555391 G A 3.90 LowGQX;SB;LowDP BaseQRankSum=0.727;DP=4;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.727;QD=0.97;ReadPosRankSum=0.727;SB=-0.01;TI=NM_001005487;GI=OR13G1;FC=Synonymous_F112F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,1:4:31.62:32,0,76:60:4:0.250 chr1 247836207 rs28711149 T A 75.00 LowDP BaseQRankSum=0.922;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=1.368;QD=9.37;ReadPosRankSum=-0.421;SB=-34.63;TI=NM_001005487;GI=OR13G1;FC=Missense_K46I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,4:8:99:105,0,140:60:75:0.500 chr2 1079320 rs4971432 C T 3671.20 PASS DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1639;MQ=52;MQ0=0;QD=29.37;SB=-1942.38;TI=NM_018968;GI=SNTG2;FC=Synonymous_G63G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3671,268,0:52:99:1.000 chr2 1168781 rs28505970 C A 1638.41 PASS BaseQRankSum=0.162;DP=99;Dels=0.00;FS=1.745;HRun=0;HaplotypeScore=2.7581;MQ=52;MQ0=0;MQRankSum=-1.151;QD=16.55;ReadPosRankSum=-1.445;SB=-1130.25;TI=NM_018968;GI=SNTG2;FC=Missense_S168Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,68:99:99:1668,0,719:52:99:0.687 chr2 1251088 rs55953201 C T 256.05 PASS BaseQRankSum=1.140;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=49;MQ0=0;MQRankSum=-4.963;QD=4.92;ReadPosRankSum=1.444;SB=-69.77;TI=NM_018968;GI=SNTG2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,12:52:99:286,0,962:49:99:0.231 chr2 1271230 rs13023962 A G 2862.21 PASS BaseQRankSum=0.396;DP=245;Dels=0.00;FS=0.985;HRun=0;HaplotypeScore=13.8820;MQ=57;MQ0=0;MQRankSum=0.082;QD=11.68;ReadPosRankSum=-1.204;SB=-1890.07;TI=NM_018968;GI=SNTG2;FC=Missense_I391V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:126,119:245:99:2892,0,2971:57:99:0.486 chr2 1320143 rs4927635 C T 1942.00 PASS BaseQRankSum=-0.937;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=-1.036;QD=25.89;ReadPosRankSum=-1.595;SB=-1097.35;TI=NM_018968;GI=SNTG2;FC=Missense_T495M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,73:75:99:1975,103,0:50:99:0.973 chr2 1418192 rs9678281 C G 4698.48 PASS DP=177;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5894;MQ=52;MQ0=0;QD=26.55;SB=-3321.46;TI=NM_000547,NM_175719,NM_175722,NM_175721;GI=TPO,TPO,TPO,TPO;FC=Synonymous_L4L,Synonymous_L4L,Synonymous_L4L,Synonymous_L4L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,177:177:99:4698,331,0:52:99:1.000 chr2 1460004 rs4927611 G T 1809.69 PASS BaseQRankSum=1.669;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=58;MQ0=0;MQRankSum=1.669;QD=32.90;ReadPosRankSum=1.165;SB=-1022.80;TI=NM_000547,NM_175719,NM_175722,NM_175721;GI=TPO,TPO,TPO,TPO;FC=Missense_A257S,Missense_A257S,Missense_A257S,Missense_A257S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,54:55:99:1843,114,0:58:99:0.982 chr2 1497803 rs1126797 C T 2018.46 PASS DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4153;MQ=57;MQ0=0;QD=33.64;SB=-493.51;TI=NM_000547,NM_175719,NM_175722,NM_175721;GI=TPO,TPO,TPO,TPO;FC=Synonymous_D666D,Synonymous_D609D,Synonymous_D493D,Synonymous_D666D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:2051,153,0:57:99:1.000 chr2 1499899 rs732608 C T 3508.61 PASS DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=53;MQ0=0;QD=27.63;SB=-2496.69;TI=NM_000547,NM_175719,NM_175722,NM_175721;GI=TPO,TPO,TPO,TPO;FC=Synonymous_P715P,Synonymous_P658P,Synonymous_P542P,Synonymous_P715P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:3509,250,0:53:99:1.000 chr2 1499927 rs732609 A C 3076.89 PASS DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7855;MQ=55;MQ0=0;QD=26.30;SB=-2204.86;TI=NM_000547,NM_175719,NM_175722,NM_175721;GI=TPO,TPO,TPO,TPO;FC=Missense_T725P,Missense_T668P,Missense_T552P,Missense_T725P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,117:117:99:3110,223,0:55:99:1.000 chr2 1520676 rs1126799 T C 3440.64 PASS DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6482;MQ=54;MQ0=0;QD=27.31;SB=-1842.78;TI=NM_000547,NM_175719,NM_175722,NM_175721;GI=TPO,TPO,TPO,TPO;FC=Missense_V847A,Missense_V790A,Missense_V674A,Missense_V803A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:3441,250,0:54:99:1.000 chr2 1647171 rs6730800 T C 1442.67 PASS DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4870;MQ=52;MQ0=0;QD=26.72;SB=-756.83;TI=NM_012293;GI=PXDN;FC=Synonymous_V1307V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1476,108,0:52:99:1.000 chr2 1652822 rs1863135 T G 3279.16 PASS BaseQRankSum=1.673;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.9470;MQ=50;MQ0=0;MQRankSum=1.615;QD=27.56;ReadPosRankSum=0.382;SB=-2144.43;TI=NM_012293;GI=PXDN;FC=Synonymous_I910I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,117:119:99:3279,241,0:50:99:0.992 chr2 1664654 rs17841813 A G 488.94 PASS BaseQRankSum=2.450;DP=39;Dels=0.00;FS=5.999;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=-0.751;QD=12.54;ReadPosRankSum=0.552;SB=-53.57;TI=NM_012293;GI=PXDN;FC=Synonymous_N612N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,17:39:99:519,0,650:55:99:0.436 chr2 1842968 rs6728368 T C 2964.10 PASS BaseQRankSum=3.928;DP=222;Dels=0.00;FS=0.522;HRun=2;HaplotypeScore=7.4031;MQ=56;MQ0=0;MQRankSum=1.926;QD=13.35;ReadPosRankSum=1.702;SB=-1463.38;TI=NM_015025;GI=MYT1L;FC=Synonymous_G1009G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,120:222:99:2994,0,2498:56:99:0.541 chr2 1843130 rs59128763 G A 1584.16 PASS BaseQRankSum=2.397;DP=108;Dels=0.00;FS=0.928;HRun=0;HaplotypeScore=3.4870;MQ=58;MQ0=0;MQRankSum=0.473;QD=14.67;ReadPosRankSum=1.057;SB=-379.60;TI=NM_015025;GI=MYT1L;FC=Synonymous_P955P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,55:108:99:1614,0,1484:58:99:0.509 chr2 1926437 rs1529667 G T 4610.33 PASS BaseQRankSum=1.682;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.6873;MQ=57;MQ0=0;MQRankSum=1.506;QD=33.41;ReadPosRankSum=-1.381;SB=-2574.37;TI=NM_015025;GI=MYT1L;FC=Synonymous_P368P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,137:138:99:4610,349,0:57:99:0.993 chr2 1926488 rs13399855 C T 1658.64 PASS BaseQRankSum=1.385;DP=142;Dels=0.00;FS=1.348;HRun=0;HaplotypeScore=9.0739;MQ=58;MQ0=0;MQRankSum=-0.359;QD=11.68;ReadPosRankSum=1.277;SB=-863.18;TI=NM_015025;GI=MYT1L;FC=Synonymous_P351P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,62:142:99:1689,0,2217:58:99:0.440 chr2 1946914 rs3748988 A G 2711.97 PASS DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=52;MQ0=0;QD=30.13;SB=-1200.01;TI=NM_015025;GI=MYT1L;FC=Synonymous_D115D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:90:99:2745,205,0:52:99:1.000 chr2 3653844 rs3739147 T C 1325.34 PASS DP=49;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.05;SB=-881.38;TI=NM_199235,NM_024027;GI=COLEC11,COLEC11;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1358,99,0:53:99:1.000 chr2 9634856 rs1048610 A G 2017.34 PASS DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=29.67;SB=-1227.32;TI=NM_003183;GI=ADAM17;FC=Synonymous_S608S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:2050,147,0:50:99:1.000 chr2 9658385 . G A 11.04 SB BaseQRankSum=-2.855;DP=27;Dels=0.00;FS=10.212;HRun=3;HaplotypeScore=36.0491;MQ=48;MQ0=0;MQRankSum=-1.106;QD=0.41;ReadPosRankSum=0.231;SB=-0.01;TI=NM_003183;GI=ADAM17;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,9:27:40.68:41,0,383:48:11:0.333 chr2 10188649 rs11687357 A T 8405.30 PASS DP=306;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1236;MQ=55;MQ0=0;QD=27.47;SB=-5195.56;TI=NM_003597,NM_001177716,NM_001177718;GI=KLF11,KLF11,KLF11;FC=Synonymous_V395V,Synonymous_V378V,Synonymous_V378V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,306:306:99:8405,602,0:55:99:1.000 chr2 11333994 rs2271621 T G 2040.71 PASS DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=1;QD=25.51;SB=-1495.34;TI=NM_004850;GI=ROCK2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2074,147,0:50:99:1.000 chr2 11911761 rs11538448 C T 611.45 PASS BaseQRankSum=0.234;DP=43;Dels=0.00;FS=4.590;HRun=1;HaplotypeScore=1.8665;MQ=57;MQ0=0;MQRankSum=1.834;QD=14.22;ReadPosRankSum=0.185;SB=-381.22;TI=NM_145693;GI=LPIN1;FC=Synonymous_I184I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,25:43:99:641,0,479:57:99:0.581 chr2 15601441 rs7590340 C T 1889.93 PASS BaseQRankSum=3.048;DP=167;Dels=0.00;FS=6.716;HRun=0;HaplotypeScore=4.4922;MQ=55;MQ0=0;MQRankSum=1.216;QD=11.32;ReadPosRankSum=1.788;SB=-1236.64;TI=NM_015909;GI=NBAS;FC=Synonymous_L741L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,76:167:99:1920,0,2213:55:99:0.455 chr2 15607842 rs4668909 T C 2278.01 PASS BaseQRankSum=-0.772;DP=167;Dels=0.00;FS=0.578;HRun=2;HaplotypeScore=8.0468;MQ=56;MQ0=0;MQRankSum=0.762;QD=13.64;ReadPosRankSum=-2.064;SB=-1253.29;TI=NM_015909;GI=NBAS;FC=Missense_K655R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,83:167:99:2308,0,2171:56:99:0.500 chr2 15614404 rs13014906 T C 636.57 PASS BaseQRankSum=2.662;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6754;MQ=54;MQ0=0;MQRankSum=-0.732;QD=11.17;ReadPosRankSum=0.555;SB=-369.31;TI=NM_015909;GI=NBAS;FC=Synonymous_R462R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,25:57:99:667,0,747:54:99:0.439 chr2 15615910 rs1990754 A G 1670.53 PASS BaseQRankSum=1.083;DP=148;Dels=0.00;FS=2.076;HRun=1;HaplotypeScore=1.9942;MQ=55;MQ0=0;MQRankSum=1.268;QD=11.29;ReadPosRankSum=0.494;SB=-1022.73;TI=NM_015909;GI=NBAS;FC=Synonymous_S414S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,68:148:99:1701,0,1888:55:99:0.459 chr2 15616013 rs1990755 C G 1208.09 PASS BaseQRankSum=0.263;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=2.435;QD=10.88;ReadPosRankSum=1.951;SB=-700.15;TI=NM_015909;GI=NBAS;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,53:111:99:1238,0,1414:52:99:0.477 chr2 15618339 rs1125534 G A 837.85 PASS BaseQRankSum=-0.982;DP=55;Dels=0.00;FS=1.138;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-1.743;QD=15.23;ReadPosRankSum=-0.699;SB=-484.16;TI=NM_015909;GI=NBAS;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,36:55:99:868,0,532:53:99:0.655 chr2 15674686 rs13029846 T C 1320.36 PASS BaseQRankSum=1.710;DP=106;Dels=0.00;FS=1.571;HRun=0;HaplotypeScore=4.7873;MQ=50;MQ0=0;MQRankSum=2.294;QD=12.46;ReadPosRankSum=0.632;SB=-893.17;TI=NM_015909;GI=NBAS;FC=Missense_I243V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,58:106:99:1350,0,1101:50:99:0.547 chr2 15676686 rs10208972 G A 676.22 PASS BaseQRankSum=-0.412;DP=62;Dels=0.00;FS=0.975;HRun=1;HaplotypeScore=5.5381;MQ=58;MQ0=0;MQRankSum=0.426;QD=10.91;ReadPosRankSum=-0.043;SB=-544.87;TI=NM_015909;GI=NBAS;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,35:62:99:706,0,609:58:99:0.565 chr2 18112473 rs4240213 G A 6372.59 PASS DP=207;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0194;MQ=54;MQ0=0;QD=30.79;SB=-3498.44;TI=NM_002252;GI=KCNS3;FC=Synonymous_E66E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,206:207:99:6373,467,0:54:99:1.000 chr2 18113508 rs3747516 G A 2211.89 PASS BaseQRankSum=1.507;DP=205;Dels=0.00;FS=1.100;HRun=2;HaplotypeScore=14.5842;MQ=57;MQ0=0;MQRankSum=0.735;QD=10.79;ReadPosRankSum=-0.886;SB=-1485.68;TI=NM_002252;GI=KCNS3;FC=Synonymous_K411K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,98:205:99:2242,0,2816:57:99:0.483 chr2 18113623 rs4832524 A G 1805.36 PASS BaseQRankSum=0.767;DP=187;Dels=0.00;FS=6.251;HRun=0;HaplotypeScore=7.2560;MQ=55;MQ0=0;MQRankSum=1.350;QD=9.65;ReadPosRankSum=0.387;SB=-1001.65;TI=NM_002252;GI=KCNS3;FC=Missense_T450A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,79:187:99:1835,0,2818:55:99:0.422 chr2 20131079 rs1191778 T C 4554.56 PASS DP=163;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.2371;MQ=49;MQ0=0;QD=27.94;SB=-2731.16;TI=NM_020779,NM_001006657;GI=WDR35,WDR35;FC=Missense_E972G,Missense_E983G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,163:163:99:4555,337,0:49:99:1.000 chr2 20818764 rs3732149 C T 1293.06 PASS BaseQRankSum=0.254;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5484;MQ=53;MQ0=0;MQRankSum=1.005;QD=15.21;ReadPosRankSum=-0.844;SB=-593.80;TI=NM_022460;GI=HS1BP3;FC=Missense_A388T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,50:85:99:1323,0,807:53:99:0.588 chr2 20818883 rs35579164 G C 1539.62 PASS BaseQRankSum=0.660;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.7215;MQ=57;MQ0=0;MQRankSum=0.313;QD=11.58;ReadPosRankSum=-0.196;SB=-935.98;TI=NM_022460;GI=HS1BP3;FC=Missense_P348R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,69:133:99:1570,0,1512:57:99:0.519 chr2 20823724 rs6531248 T C 4107.46 PASS BaseQRankSum=1.665;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4863;MQ=54;MQ0=0;MQRankSum=0.489;QD=26.33;ReadPosRankSum=-1.443;SB=-2902.57;TI=NM_022460;GI=HS1BP3;FC=Synonymous_P284P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,155:156:99:4107,292,0:54:99:0.994 chr2 20824498 rs2305458 C T 1085.39 PASS DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=35.01;SB=-161.31;TI=NM_022460;GI=HS1BP3;FC=Missense_V260M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,31:31:84.27:1118,84,0:59:84:1.000 chr2 20838222 rs3796065 C T 2079.73 PASS BaseQRankSum=1.815;DP=145;Dels=0.00;FS=4.042;HRun=1;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=2.725;QD=14.34;ReadPosRankSum=-0.841;SB=-941.82;TI=NM_022460;GI=HS1BP3;FC=Synonymous_E199E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,80:145:99:2110,0,1477:55:99:0.552 chr2 20845273 rs2304423 G A 3719.90 PASS BaseQRankSum=1.704;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-0.894;QD=30.00;ReadPosRankSum=-1.704;SB=-1736.36;TI=NM_022460;GI=HS1BP3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,123:124:99:3720,271,0:56:99:0.992 chr2 21224853 rs1801695 C T 2646.30 PASS BaseQRankSum=1.879;DP=199;Dels=0.00;FS=7.294;HRun=0;HaplotypeScore=6.4699;MQ=58;MQ0=0;MQRankSum=0.224;QD=13.30;ReadPosRankSum=0.691;SB=-901.50;TI=NM_000384;GI=APOB;FC=Missense_A4481T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,91:199:99:2676,0,3029:58:99:0.457 chr2 21225281 rs1042034 C T 1014.13 PASS BaseQRankSum=0.726;DP=73;Dels=0.00;FS=3.177;HRun=1;HaplotypeScore=0.8941;MQ=60;MQ0=0;MQRankSum=-0.294;QD=13.89;ReadPosRankSum=0.216;SB=-421.41;TI=NM_000384;GI=APOB;FC=Missense_S4338N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,33:73:99:1044,0,1189:60:99:0.452 chr2 21228827 rs1801701 C T 3292.07 PASS BaseQRankSum=3.266;DP=256;Dels=0.00;FS=1.511;HRun=0;HaplotypeScore=12.0029;MQ=56;MQ0=0;MQRankSum=2.367;QD=12.86;ReadPosRankSum=0.781;SB=-2093.18;TI=NM_000384;GI=APOB;FC=Missense_R3638Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,135:256:99:3292,0,2897:56:99:0.527 chr2 21231524 rs676210 G A 2568.88 PASS BaseQRankSum=2.850;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2567;MQ=57;MQ0=0;MQRankSum=0.744;QD=12.53;ReadPosRankSum=-0.070;SB=-1712.06;TI=NM_000384;GI=APOB;FC=Missense_P2739L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,102:205:99:2599,0,2745:57:99:0.500 chr2 21232195 rs693 G A 2023.53 PASS BaseQRankSum=0.186;DP=156;Dels=0.00;FS=1.275;HRun=0;HaplotypeScore=5.5745;MQ=55;MQ0=0;MQRankSum=-0.551;QD=12.97;ReadPosRankSum=0.218;SB=-1167.30;TI=NM_000384;GI=APOB;FC=Synonymous_T2515T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,76:156:99:2054,0,2105:55:99:0.487 chr2 21232803 rs584542 T C 6679.16 PASS DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4510;MQ=57;MQ0=0;QD=32.27;SB=-3890.03;TI=NM_000384;GI=APOB;FC=Missense_I2313V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,206:207:99:6679,494,0:57:99:1.000 chr2 21232804 rs1041968 G A 3097.41 PASS BaseQRankSum=-0.005;DP=205;Dels=0.00;FS=4.884;HRun=0;HaplotypeScore=7.3451;MQ=57;MQ0=0;MQRankSum=2.293;QD=15.11;ReadPosRankSum=1.579;SB=-1761.27;TI=NM_000384;GI=APOB;FC=Synonymous_D2312D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,113:205:99:3127,0,2544:57:99:0.554 chr2 21235475 rs568413 T C 2197.83 PASS DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7041;MQ=55;MQ0=0;QD=33.30;SB=-642.56;TI=NM_000384;GI=APOB;FC=Missense_Y1422C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:66:99:2231,166,0:55:99:1.000 chr2 21238413 rs12713844 C G 600.25 PASS BaseQRankSum=0.913;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=1.204;QD=10.53;ReadPosRankSum=0.687;SB=-190.58;TI=NM_000384;GI=APOB;FC=Missense_D1113H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,24:57:99:630,0,873:57:99:0.421 chr2 21250914 rs679899 G A 1682.33 PASS BaseQRankSum=2.190;DP=165;Dels=0.00;FS=2.045;HRun=1;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=0.717;QD=10.20;ReadPosRankSum=1.083;SB=-762.29;TI=NM_000384;GI=APOB;FC=Missense_A618V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,66:165:99:1712,0,2675:56:99:0.400 chr2 21263900 rs1367117 G A 1283.65 PASS BaseQRankSum=-0.626;DP=114;Dels=0.00;FS=4.530;HRun=0;HaplotypeScore=3.5489;MQ=54;MQ0=0;MQRankSum=-0.077;QD=11.26;ReadPosRankSum=0.615;SB=-887.43;TI=NM_000384;GI=APOB;FC=Missense_T98I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,58:114:99:1314,0,1351:54:99:0.509 chr2 24431158 . C A 1986.71 PASS BaseQRankSum=2.022;DP=179;Dels=0.00;FS=1.161;HRun=1;HaplotypeScore=9.7197;MQ=50;MQ0=0;MQRankSum=2.606;QD=11.10;ReadPosRankSum=0.642;SB=-1335.35;TI=NM_019595,NM_006277;GI=ITSN2,ITSN2;FC=Synonymous_A1515A,Synonymous_A1542A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,86:179:99:2017,0,2160:50:99:0.480 chr2 24475205 rs4450560 T C 2507.25 PASS DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=33.88;SB=-1061.35;TI=NM_019595,NM_006277,NM_147152;GI=ITSN2,ITSN2,ITSN2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:74:99:2540,190,0:56:99:1.000 chr2 24905927 rs11125744 G C 5012.18 PASS DP=168;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3371;MQ=53;MQ0=0;QD=29.83;SB=-2876.60;TI=NM_003743,NM_147223,NM_147233;GI=NCOA1,NCOA1,NCOA1;FC=Synonymous_T154T,Synonymous_T154T,Synonymous_T154T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,168:168:99:5012,361,0:53:99:1.000 chr2 24974945 rs11125763 T G 4408.12 PASS DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2509;MQ=55;MQ0=0;QD=27.21;SB=-3126.68;TI=NM_003743,NM_147223,NM_147233;GI=NCOA1,NCOA1,NCOA1;FC=Synonymous_L1267L,Synonymous_L1267L,Synonymous_L1267L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,162:162:99:4408,316,0:55:99:1.000 chr2 25046090 rs1127568 T C 1547.84 PASS BaseQRankSum=0.449;DP=123;Dels=0.00;FS=0.665;HRun=1;HaplotypeScore=2.7880;MQ=52;MQ0=0;MQRankSum=0.119;QD=12.58;ReadPosRankSum=1.618;SB=-1016.90;TI=NM_004036;GI=ADCY3;FC=Synonymous_S957S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,67:123:99:1578,0,1280:52:99:0.545 chr2 25047408 rs7604576 A G 1106.75 PASS BaseQRankSum=2.194;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7036;MQ=56;MQ0=0;MQRankSum=-1.451;QD=17.57;ReadPosRankSum=-0.080;SB=-454.41;TI=NM_004036;GI=ADCY3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,42:63:99:1137,0,558:56:99:0.667 chr2 25050977 rs7566416 T C 2391.44 PASS BaseQRankSum=0.897;DP=211;Dels=0.00;FS=0.515;HRun=0;HaplotypeScore=8.5008;MQ=50;MQ0=0;MQRankSum=-1.934;QD=11.33;ReadPosRankSum=-0.831;SB=-1329.15;TI=NM_004036;GI=ADCY3;FC=Synonymous_E742E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,104:211:99:2421,0,2552:50:99:0.493 chr2 25064193 rs2241759 G A 1617.50 PASS BaseQRankSum=0.328;DP=138;Dels=0.00;FS=3.137;HRun=0;HaplotypeScore=3.7563;MQ=53;MQ0=0;MQRankSum=-0.307;QD=11.72;ReadPosRankSum=-0.818;SB=-801.17;TI=NM_004036;GI=ADCY3;FC=Synonymous_P377P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,67:138:99:1647,0,1666:53:99:0.486 chr2 25469913 rs2276599 C T 2509.14 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4571;MQ=53;MQ0=0;QD=28.19;SB=-1609.03;TI=NM_153759,NM_022552,NM_175629;GI=DNMT3A,DNMT3A,DNMT3A;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:89:99:2542,187,0:53:99:1.000 chr2 26455127 rs11552518 G A 1061.97 PASS BaseQRankSum=1.812;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=-1.794;QD=12.64;ReadPosRankSum=-0.475;SB=-678.31;TI=NM_000182;GI=HADHA;FC=Synonymous_Y158Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,45:84:99:1092,0,775:51:99:0.536 chr2 26477125 . G GACT 3623.83 PASS DP=62;FS=0.000;HRun=0;HaplotypeScore=28.3836;MQ=60;MQ0=0;QD=58.45;SB=-1286.18;TI=NM_000183;GI=HADHB;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,62:62:99:3624,187,0:60:99:1.000 chr2 26502875 rs1056389 T C 1546.93 PASS BaseQRankSum=-0.144;DP=117;Dels=0.00;FS=0.711;HRun=0;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=1.633;QD=13.22;ReadPosRankSum=0.379;SB=-658.94;TI=NM_000183;GI=HADHB;FC=Synonymous_V275V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,58:117:99:1577,0,1594:55:99:0.496 chr2 26699126 rs4335905 C G 3810.66 PASS DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=53;MQ0=0;QD=28.87;SB=-2182.74;TI=NM_194323,NM_194322,NM_004802,NM_194248;GI=OTOF,OTOF,OTOF,OTOF;FC=Synonymous_L165L,Synonymous_L222L,Synonymous_L165L,Synonymous_L912L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:132:99:3811,280,0:53:99:1.000 chr2 26699855 rs2272069 G C 5720.47 PASS DP=184;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.7181;MQ=51;MQ0=0;QD=31.09;SB=-2126.47;TI=NM_194323,NM_194322,NM_004802,NM_194248;GI=OTOF,OTOF,OTOF,OTOF;FC=Synonymous_V113V,Synonymous_V170V,Synonymous_V113V,Synonymous_V860V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,182:184:99:5720,427,0:51:99:1.000 chr2 26700700 rs4665855 G A 2591.82 PASS BaseQRankSum=1.693;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=57;MQ0=0;MQRankSum=1.654;QD=29.12;ReadPosRankSum=-0.681;SB=-1381.95;TI=NM_194323,NM_194322,NM_004802,NM_194248;GI=OTOF,OTOF,OTOF,OTOF;FC=Silent,Missense_P21L,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,88:89:99:2625,190,0:57:99:0.989 chr2 26739423 rs11687696 T C 2130.70 PASS DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.32;SB=-1224.12;TI=NM_194248;GI=OTOF;FC=Synonymous_T124T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2164,154,0:52:99:1.000 chr2 27315252 rs2304681 G A 1676.73 PASS BaseQRankSum=1.228;DP=159;Dels=0.00;FS=1.239;HRun=0;HaplotypeScore=6.1489;MQ=54;MQ0=0;MQRankSum=0.424;QD=10.55;ReadPosRankSum=-0.261;SB=-1207.82;TI=NM_006488,NM_000221;GI=KHK,KHK;FC=Missense_V49I,Missense_V49I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,79:159:99:1707,0,1783:54:99:0.500 chr2 27589810 rs2280737 T C 1963.96 PASS DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=35.07;SB=-1033.25;TI=NM_172195,NM_015636,NM_001034116;GI=EIF2B4,EIF2B4,EIF2B4;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:1997,150,0:58:99:1.000 chr2 27592090 . TA T 169.85 LowVariantFreq;R8 BaseQRankSum=0.874;DP=74;FS=6.661;HRun=11;HaplotypeScore=149.1403;MQ=54;MQ0=0;MQRankSum=1.075;QD=2.30;ReadPosRankSum=-1.540;SB=-101.64;TI=NM_172195,NM_015636,NM_001034116;GI=EIF2B4,EIF2B4,EIF2B4;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,13:74:99:209,0,1293:54:99:0.191 chr2 27592423 rs7602534 C T 3480.53 PASS DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0468;MQ=54;MQ0=0;QD=28.76;SB=-2078.77;TI=NM_172195,NM_015636,NM_001034116;GI=EIF2B4,EIF2B4,EIF2B4;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,119:121:99:3481,253,0:54:99:1.000 chr2 27730940 rs1260326 T C 2011.99 PASS DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=34.69;SB=-757.69;TI=NM_001486;GI=GCKR;FC=Missense_L446P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:2045,153,0:57:99:1.000 chr2 29293944 . C G 3.77 LowGQX;SB BaseQRankSum=-2.626;DP=24;Dels=0.00;FS=3.214;HRun=6;HaplotypeScore=33.3825;MQ=41;MQ0=0;MQRankSum=-1.925;QD=0.16;ReadPosRankSum=-1.505;SB=-0.01;TI=NM_001029883;GI=C2orf71;FC=Missense_E1062Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,6:24:31.41:31,0,502:41:4:0.261 chr2 29293951 . A G 8.38 LowGQX;SB BaseQRankSum=-2.392;DP=27;Dels=0.00;FS=8.921;HRun=6;HaplotypeScore=24.0117;MQ=41;MQ0=0;MQRankSum=-2.032;QD=0.31;ReadPosRankSum=-1.312;SB=-0.01;TI=NM_001029883;GI=C2orf71;FC=Synonymous_P1059P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,9:27:37.70:38,0,374:41:8:0.333 chr2 29416366 rs1881421 G C 3644.80 PASS BaseQRankSum=0.326;DP=312;Dels=0.00;FS=5.117;HRun=0;HaplotypeScore=6.4869;MQ=55;MQ0=0;MQRankSum=2.768;QD=11.68;ReadPosRankSum=0.061;SB=-2291.95;TI=NM_004304;GI=ALK;FC=Missense_D1529E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:162,150:312:99:3645,0,4113:55:99:0.481 chr2 29416481 rs1881420 T C 2249.40 PASS BaseQRankSum=1.604;DP=162;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.6544;MQ=55;MQ0=0;MQRankSum=1.661;QD=13.89;ReadPosRankSum=-2.224;SB=-750.21;TI=NM_004304;GI=ALK;FC=Missense_K1491R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,84:162:99:2279,0,2142:55:99:0.519 chr2 29416572 rs1670283 T C 1167.20 PASS DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9998;MQ=60;MQ0=0;QD=34.33;SB=-148.97;TI=NM_004304;GI=ALK;FC=Missense_I1461V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:90.29:1200,90,0:60:90:1.000 chr2 29446202 rs4622670 G A 1611.30 PASS BaseQRankSum=1.160;DP=138;Dels=0.00;FS=4.229;HRun=0;HaplotypeScore=12.1392;MQ=54;MQ0=0;MQRankSum=2.594;QD=11.68;ReadPosRankSum=-1.247;SB=-1007.82;TI=NM_004304;GI=ALK;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,70:138:99:1641,0,1655:54:99:0.511 chr2 29449819 rs2293563 C T 1170.35 PASS BaseQRankSum=-0.313;DP=105;Dels=0.00;FS=6.246;HRun=0;HaplotypeScore=4.6812;MQ=54;MQ0=0;MQRankSum=-0.391;QD=11.15;ReadPosRankSum=-0.293;SB=-550.42;TI=NM_004304;GI=ALK;FC=Synonymous_T1012T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,49:105:99:1200,0,1346:54:99:0.471 chr2 29451790 . T C 218.26 SB BaseQRankSum=-2.368;DP=35;Dels=0.00;FS=18.432;HRun=6;HaplotypeScore=24.0926;MQ=41;MQ0=0;MQRankSum=-2.070;QD=6.24;ReadPosRankSum=0.579;SB=-2.19;TI=NM_004304;GI=ALK;FC=Synonymous_G925G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,16:35:99:248,0,461:41:99:0.457 chr2 29451793 . A C 22.84 SB BaseQRankSum=-3.934;DP=34;Dels=0.00;FS=9.700;HRun=5;HaplotypeScore=27.4261;MQ=40;MQ0=0;MQRankSum=-3.438;QD=0.67;ReadPosRankSum=2.197;SB=-0.01;TI=NM_004304;GI=ALK;FC=Synonymous_G924G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,13:34:52.81:53,0,622:40:23:0.382 chr2 29451799 . T C 234.18 SB BaseQRankSum=-0.270;DP=35;Dels=0.00;FS=30.299;HRun=5;HaplotypeScore=20.7475;MQ=41;MQ0=0;MQRankSum=-2.865;QD=6.69;ReadPosRankSum=0.559;SB=-0.01;TI=NM_004304;GI=ALK;FC=Synonymous_G922G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,12:35:99:264,0,533:41:99:0.353 chr2 29451802 . G C 192.22 SB BaseQRankSum=-3.717;DP=36;Dels=0.00;FS=30.538;HRun=2;HaplotypeScore=18.6031;MQ=42;MQ0=0;MQRankSum=-2.817;QD=5.34;ReadPosRankSum=-0.517;SB=-0.01;TI=NM_004304;GI=ALK;FC=Missense_F921L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,15:36:99:222,0,591:42:99:0.429 chr2 29451811 . T C 53.40 SB BaseQRankSum=-1.944;DP=35;Dels=0.00;FS=26.104;HRun=5;HaplotypeScore=37.7325;MQ=45;MQ0=0;MQRankSum=-2.548;QD=1.53;ReadPosRankSum=1.000;SB=-0.01;TI=NM_004304;GI=ALK;FC=Synonymous_R918R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,9:35:83.40:83,0,719:45:53:0.257 chr2 29451828 . A C 5.21 LowGQX;LowVariantFreq;SB BaseQRankSum=-1.533;DP=39;Dels=0.00;FS=14.346;HRun=5;HaplotypeScore=24.0306;MQ=45;MQ0=0;MQRankSum=-2.079;QD=0.13;ReadPosRankSum=0.147;SB=-0.01;TI=NM_004304;GI=ALK;FC=Missense_W913G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,5:39:33.64:34,0,1003:45:5:0.128 chr2 29455267 rs2256740 A G 3397.59 PASS DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2310;MQ=54;MQ0=0;QD=27.40;SB=-2074.08;TI=NM_004304;GI=ALK;FC=Synonymous_G845G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,124:124:99:3398,247,0:54:99:1.000 chr2 29543663 rs2293564 T C 1569.52 PASS DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=29.61;SB=-952.49;TI=NM_004304;GI=ALK;FC=Synonymous_Q500Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1603,117,0:52:99:1.000 chr2 29940529 rs2246745 A T 1319.45 PASS BaseQRankSum=0.124;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=-0.061;QD=12.45;ReadPosRankSum=-0.692;SB=-830.09;TI=NM_004304;GI=ALK;FC=Synonymous_P234P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,60:106:99:1349,0,1094:54:99:0.566 chr2 30143499 rs4358080 G C 858.09 SB DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=58;MQ0=0;QD=35.75;SB=-0.01;TI=NM_004304;GI=ALK;FC=Synonymous_L9L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:69.21:891,69,0:58:69:1.000 chr2 30957326 rs2276568 A G 1393.48 PASS BaseQRankSum=0.943;DP=135;Dels=0.00;FS=5.345;HRun=0;HaplotypeScore=1.7608;MQ=51;MQ0=0;MQRankSum=1.431;QD=10.32;ReadPosRankSum=1.577;SB=-926.95;TI=NM_144575;GI=CAPN13;FC=Missense_I596T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,59:135:99:1423,0,1839:51:99:0.437 chr2 30980940 rs508405 C T 626.39 PASS BaseQRankSum=0.468;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3582;MQ=50;MQ0=0;MQRankSum=0.295;QD=5.85;ReadPosRankSum=-0.205;SB=-382.01;TI=NM_144575;GI=CAPN13;FC=Missense_A280T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,30:107:99:656,0,1949:50:99:0.280 chr2 30986989 rs579016 G T 1123.39 PASS DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=35.11;SB=-80.66;TI=NM_144575;GI=CAPN13;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,32:32:87.28:1156,87,0:57:87:1.000 chr2 31571786 rs1884725 A G 3061.60 PASS DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.61;SB=-1925.24;TI=NM_000379;GI=XDH;FC=Synonymous_F1010F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:107:99:3095,220,0:53:99:1.000 chr2 31600017 rs45471294 C T 945.16 PASS BaseQRankSum=-0.073;DP=93;Dels=0.00;FS=0.793;HRun=2;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=-1.329;QD=10.16;ReadPosRankSum=0.466;SB=-566.03;TI=NM_000379;GI=XDH;FC=Synonymous_K443K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,43:93:99:975,0,1310:55:99:0.462 chr2 31606670 rs4407290 G A 796.82 PASS BaseQRankSum=1.486;DP=82;Dels=0.00;FS=1.810;HRun=1;HaplotypeScore=6.3640;MQ=54;MQ0=0;MQRankSum=2.256;QD=9.72;ReadPosRankSum=1.031;SB=-613.04;TI=NM_000379;GI=XDH;FC=Synonymous_V279V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,39:82:99:827,0,1038:54:99:0.476 chr2 31610701 rs45575032 C T 904.92 PASS BaseQRankSum=1.961;DP=77;Dels=0.00;FS=3.066;HRun=1;HaplotypeScore=1.8924;MQ=50;MQ0=0;MQRankSum=0.616;QD=11.75;ReadPosRankSum=1.798;SB=-490.51;TI=NM_000379;GI=XDH;FC=Synonymous_E209E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,39:77:99:935,0,912:50:99:0.506 chr2 31611143 rs45523133 C T 1354.49 PASS BaseQRankSum=-0.351;DP=101;Dels=0.00;FS=0.748;HRun=1;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=-0.010;QD=13.41;ReadPosRankSum=1.585;SB=-816.75;TI=NM_000379;GI=XDH;FC=Missense_G172R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,55:101:99:1384,0,1046:51:99:0.545 chr2 31805706 rs523349 G C 1007.37 PASS DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58;MQ0=0;QD=34.74;SB=-121.94;TI=NM_000348;GI=SRD5A2;FC=Synonymous_A88A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:78.25:1040,78,0:58:78:1.000 chr2 31805880 . A AG 2724.38 PASS DP=69;FS=0.000;HRun=2;HaplotypeScore=81.6540;MQ=59;MQ0=0;QD=39.48;SB=-854.35;TI=NM_000348;GI=SRD5A2;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:69:99:2766,205,0:59:99:1.000 chr2 33412077 rs1065324 G A 2046.77 PASS BaseQRankSum=0.798;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.5407;MQ=54;MQ0=0;MQRankSum=2.656;QD=10.72;ReadPosRankSum=0.104;SB=-1411.83;TI=NM_206943,NM_000627,NM_001166265,NM_001166266,NM_001166264;GI=LTBP1,LTBP1,LTBP1,LTBP1,LTBP1;FC=Synonymous_A452A,Synonymous_A126A,Synonymous_A126A,Synonymous_A126A,Synonymous_A126A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,91:191:99:2077,0,2334:54:99:0.476 chr2 33413640 rs6712473 G T 502.67 PASS BaseQRankSum=1.039;DP=64;Dels=0.00;FS=5.505;HRun=2;HaplotypeScore=1.8939;MQ=52;MQ0=0;MQRankSum=0.502;QD=7.85;ReadPosRankSum=0.163;SB=-155.95;TI=NM_206943,NM_000627,NM_001166265,NM_001166266,NM_001166264;GI=LTBP1,LTBP1,LTBP1,LTBP1,LTBP1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,22:64:99:533,0,1055:52:99:0.344 chr2 33447202 rs2290448 C T 1086.97 PASS BaseQRankSum=1.853;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8768;MQ=53;MQ0=0;MQRankSum=0.634;QD=10.98;ReadPosRankSum=0.557;SB=-779.72;TI=NM_206943,NM_000627,NM_001166265,NM_001166266,NM_001166264;GI=LTBP1,LTBP1,LTBP1,LTBP1,LTBP1;FC=Synonymous_N620N,Synonymous_N294N,Synonymous_N294N,Synonymous_N294N,Synonymous_N294N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,47:99:99:1117,0,1231:53:99:0.475 chr2 33500863 rs61754246 C T 2533.66 PASS BaseQRankSum=1.100;DP=205;Dels=0.00;FS=4.184;HRun=2;HaplotypeScore=5.7762;MQ=52;MQ0=0;MQRankSum=1.986;QD=12.36;ReadPosRankSum=0.190;SB=-1035.83;TI=NM_206943,NM_000627,NM_001166265,NM_001166266,NM_001166264;GI=LTBP1,LTBP1,LTBP1,LTBP1,LTBP1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,98:205:99:2564,0,2755:52:99:0.478 chr2 33540248 rs1058840 G A 2656.59 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=54;MQ0=0;QD=29.85;SB=-1316.45;TI=NM_206943,NM_000627,NM_001166265,NM_001166266,NM_001166264;GI=LTBP1,LTBP1,LTBP1,LTBP1,LTBP1;FC=Synonymous_P1214P,Synonymous_P888P,Synonymous_P835P,Synonymous_P835P,Synonymous_P888P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:89:99:2690,196,0:54:99:1.000 chr2 33585796 rs4422143 T C 5590.50 PASS DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4100;MQ=55;MQ0=0;QD=28.38;SB=-3137.70;TI=NM_206943,NM_000627,NM_001166265,NM_001166266,NM_001166264;GI=LTBP1,LTBP1,LTBP1,LTBP1,LTBP1;FC=Missense_V1378A,Missense_V1052A,Missense_V999A,Missense_V957A,Missense_V1010A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,197:197:99:5590,403,0:55:99:1.000 chr2 37480319 . A AT 3187.09 PASS BaseQRankSum=1.558;DP=178;FS=1.873;HRun=2;HaplotypeScore=86.1405;MQ=57;MQ0=0;MQRankSum=1.491;QD=17.91;ReadPosRankSum=-1.998;SB=-1275.40;TI=NM_005813;GI=PRKD3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,90:178:99:3226,0,2897:57:99:0.508 chr2 37505105 rs10460527 T G 612.75 PASS BaseQRankSum=0.354;DP=66;Dels=0.00;FS=0.938;HRun=0;HaplotypeScore=5.5481;MQ=51;MQ0=0;MQRankSum=-2.054;QD=9.28;ReadPosRankSum=-0.869;SB=-425.72;TI=NM_005813;GI=PRKD3;FC=Synonymous_L400L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,30:66:99:643,0,904:51:99:0.455 chr2 37506939 rs3770761 A G 2449.16 PASS BaseQRankSum=3.304;DP=241;Dels=0.00;FS=2.887;HRun=2;HaplotypeScore=9.4365;MQ=53;MQ0=0;MQRankSum=1.602;QD=10.16;ReadPosRankSum=0.177;SB=-1738.91;TI=NM_005813;GI=PRKD3;FC=Synonymous_D374D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,112:241:99:2479,0,2943:53:99:0.465 chr2 37518045 rs10177176 G C 1179.81 PASS BaseQRankSum=1.304;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3639;MQ=51;MQ0=0;MQRankSum=1.714;QD=11.34;ReadPosRankSum=0.908;SB=-767.33;TI=NM_005813;GI=PRKD3;FC=Synonymous_L175L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,50:104:99:1210,0,1235:51:99:0.481 chr2 37543371 rs6544066 A G 1577.16 PASS BaseQRankSum=2.550;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6762;MQ=54;MQ0=0;MQRankSum=-0.425;QD=11.68;ReadPosRankSum=-1.292;SB=-892.17;TI=NM_005813;GI=PRKD3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,68:135:99:1607,0,1695:54:99:0.504 chr2 37543544 rs11896614 T C 1495.62 PASS BaseQRankSum=2.452;DP=127;Dels=0.00;FS=4.336;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=1.256;QD=11.78;ReadPosRankSum=1.010;SB=-995.89;TI=NM_005813;GI=PRKD3;FC=Missense_N42D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,63:127:99:1526,0,1636:56:99:0.496 chr2 38298139 rs1800440 T C 1217.59 PASS BaseQRankSum=1.712;DP=103;Dels=0.00;FS=5.294;HRun=0;HaplotypeScore=6.4596;MQ=56;MQ0=0;MQRankSum=1.047;QD=11.82;ReadPosRankSum=-0.003;SB=-385.24;TI=NM_000104;GI=CYP1B1;FC=Missense_N453S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,45:103:99:1248,0,1701:56:99:0.437 chr2 38298150 rs1056837 A G 2926.72 PASS DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=58;MQ0=0;QD=33.26;SB=-1060.59;TI=NM_000104;GI=CYP1B1;FC=Synonymous_D449D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2960,220,0:58:99:1.000 chr2 38298203 rs1056836 C G 2302.25 PASS DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=36.54;SB=-399.49;TI=NM_000104;GI=CYP1B1;FC=Missense_V432L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:2335,178,0:58:99:1.000 chr2 38302177 rs1056827 C A 647.87 PASS BaseQRankSum=0.944;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7165;MQ=54;MQ0=0;MQRankSum=3.626;QD=8.64;ReadPosRankSum=0.006;SB=-301.95;TI=NM_000104;GI=CYP1B1;FC=Missense_A119S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,27:75:99:678,0,1146:54:99:0.360 chr2 38302390 rs10012 G C 393.84 PASS BaseQRankSum=0.361;DP=47;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.6275;MQ=56;MQ0=0;MQRankSum=0.471;QD=8.38;ReadPosRankSum=-0.536;SB=-252.96;TI=NM_000104;GI=CYP1B1;FC=Missense_R48G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,18:47:99:424,0,785:56:99:0.383 chr2 43514036 rs11900952 G A 1286.97 PASS BaseQRankSum=2.586;DP=101;Dels=0.00;FS=1.634;HRun=0;HaplotypeScore=3.5707;MQ=57;MQ0=0;MQRankSum=-1.620;QD=12.74;ReadPosRankSum=-0.374;SB=-678.28;TI=NM_001083953,NM_022065;GI=THADA,THADA;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,49:101:99:1317,0,1271:57:99:0.495 chr2 43520362 . A C 1152.40 PASS BaseQRankSum=0.590;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=57;MQ0=0;MQRankSum=0.128;QD=12.00;ReadPosRankSum=2.795;SB=-653.94;TI=NM_001083953,NM_022065;GI=THADA,THADA;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,48:96:99:1182,0,1165:57:99:0.500 chr2 43625184 rs33979934 T A 2595.98 PASS BaseQRankSum=1.329;DP=161;Dels=0.00;FS=0.604;HRun=0;HaplotypeScore=3.6821;MQ=57;MQ0=0;MQRankSum=0.558;QD=16.12;ReadPosRankSum=-0.342;SB=-1518.97;TI=NM_001083953,NM_022065;GI=THADA,THADA;FC=Missense_T1385S,Missense_T1385S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,99:161:99:2626,0,1796:57:99:0.615 chr2 43725965 rs35419456 C A 362.92 PASS BaseQRankSum=0.856;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.761;QD=10.08;ReadPosRankSum=1.616;SB=-235.03;TI=NM_001083953,NM_022065;GI=THADA,THADA;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,17:36:99:393,0,453:53:99:0.472 chr2 43793963 . T TAAA 210.65 LowVariantFreq;R8 BaseQRankSum=0.495;DP=57;FS=7.373;HRun=16;HaplotypeScore=177.7981;MQ=55;MQ0=0;MQRankSum=0.143;QD=3.70;ReadPosRankSum=-0.891;SB=-137.29;TI=NM_001083953,NM_022065;GI=THADA,THADA;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,6:57:99:249,0,847:55:99:0.162 chr2 43797619 rs17031056 C T 683.88 PASS BaseQRankSum=1.915;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=0.507;QD=10.52;ReadPosRankSum=0.151;SB=-432.77;TI=NM_001083953,NM_022065;GI=THADA,THADA;FC=Missense_V699I,Missense_V699I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,30:65:99:714,0,886:54:99:0.462 chr2 43801712 rs11899823 A G 1906.71 PASS BaseQRankSum=1.174;DP=159;Dels=0.00;FS=4.744;HRun=1;HaplotypeScore=3.6821;MQ=56;MQ0=0;MQRankSum=0.992;QD=11.99;ReadPosRankSum=-0.333;SB=-883.96;TI=NM_001083953,NM_022065;GI=THADA,THADA;FC=Synonymous_L498L,Synonymous_L498L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,69:159:99:1937,0,2459:56:99:0.437 chr2 43804229 rs13021894 T C 2138.40 PASS BaseQRankSum=1.639;DP=182;Dels=0.00;FS=0.548;HRun=2;HaplotypeScore=11.2249;MQ=54;MQ0=0;MQRankSum=2.820;QD=11.75;ReadPosRankSum=1.439;SB=-1413.47;TI=NM_001083953,NM_022065;GI=THADA,THADA;FC=Synonymous_G323G,Synonymous_G323G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,95:182:99:2168,0,2016:54:99:0.522 chr2 44040401 rs6720173 G C 1257.52 PASS BaseQRankSum=0.995;DP=87;Dels=0.00;FS=2.951;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=2.211;QD=14.45;ReadPosRankSum=0.547;SB=-739.31;TI=NM_022436;GI=ABCG5;FC=Missense_Q604E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,51:87:99:1288,0,866:55:99:0.586 chr2 44099433 rs4148217 C A 1357.51 PASS BaseQRankSum=-1.638;DP=88;Dels=0.00;FS=1.807;HRun=1;HaplotypeScore=4.5937;MQ=54;MQ0=0;MQRankSum=0.865;QD=15.43;ReadPosRankSum=0.596;SB=-564.47;TI=NM_022437;GI=ABCG8;FC=Missense_T400K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,49:88:99:1388,0,1023:54:99:0.557 chr2 44101537 rs3841853 A AT 1812.99 PASS BaseQRankSum=0.153;DP=122;FS=0.668;HRun=2;HaplotypeScore=525.2697;MQ=56;MQ0=0;MQRankSum=1.419;QD=14.86;ReadPosRankSum=2.540;SB=-904.68;TI=NM_022437;GI=ABCG8;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,62:122:80.15:1852,0,80:56:80:0.508 chr2 44101538 rs28517482 C T 3120.32 PASS DP=122;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=63.8477;MQ=56;MQ0=0;QD=25.58;SB=-2272.90;TI=NM_022437;GI=ABCG8;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3153,226,0:56:99:1.000 chr2 44104925 rs6544718 T C 1289.33 PASS BaseQRankSum=-0.212;DP=119;Dels=0.00;FS=2.526;HRun=1;HaplotypeScore=4.5928;MQ=55;MQ0=0;MQRankSum=1.490;QD=10.83;ReadPosRankSum=1.667;SB=-508.79;TI=NM_022437;GI=ABCG8;FC=Missense_V632A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,51:119:99:1319,0,1744:55:99:0.429 chr2 44209477 rs6741066 C T 1017.01 PASS BaseQRankSum=1.041;DP=99;Dels=0.00;FS=0.778;HRun=1;HaplotypeScore=2.9992;MQ=56;MQ0=0;MQRankSum=3.491;QD=10.27;ReadPosRankSum=-1.332;SB=-601.78;TI=NM_133259;GI=LRPPRC;FC=Synonymous_Q82Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,41:99:99:1047,0,1592:56:99:0.414 chr2 44502788 rs3738985 A C 2997.49 PASS DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=52;MQ0=0;QD=27.00;SB=-2183.63;TI=NM_000341;GI=SLC3A1;FC=Synonymous_G38G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,111:111:99:3030,217,0:52:99:1.000 chr2 44531484 rs3738984 C T 815.98 PASS BaseQRankSum=-0.753;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=0.597;QD=15.11;ReadPosRankSum=0.043;SB=-71.63;TI=NM_000341;GI=SLC3A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,28:54:99:846,0,862:58:99:0.519 chr2 44539790 . C T 763.62 PASS BaseQRankSum=1.939;DP=80;Dels=0.00;FS=0.850;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=-0.411;QD=9.55;ReadPosRankSum=-2.268;SB=-486.55;TI=NM_000341;GI=SLC3A1;FC=Synonymous_N466N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,36:80:99:794,0,1085:53:99:0.450 chr2 44547574 rs698761 G A 2572.93 PASS BaseQRankSum=2.122;DP=206;Dels=0.00;FS=3.187;HRun=1;HaplotypeScore=7.3366;MQ=57;MQ0=0;MQRankSum=0.036;QD=12.49;ReadPosRankSum=-1.166;SB=-1485.27;TI=NM_000341,NM_001042386,NM_001042385,NM_006036,NM_001171606,NM_001171613,NM_001171617,NM_001171603;GI=SLC3A1,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL;FC=Missense_M618I,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,106:206:99:2603,0,2442:57:99:0.515 chr2 44569700 . AAAT A 1421.10 PASS BaseQRankSum=2.205;DP=52;FS=2.369;HRun=0;HaplotypeScore=99.9705;MQ=46;MQ0=0;MQRankSum=-2.281;QD=27.33;ReadPosRankSum=-1.505;SB=-640.95;TI=NM_001042386,NM_001042385,NM_006036,NM_001171606,NM_001171613,NM_001171617,NM_001171603;GI=PREPL,PREPL,PREPL,PREPL,PREPL,PREPL,PREPL;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,25:52:99:1460,0,1198:46:99:0.481 chr2 45171842 rs62840660 A G 2911.76 PASS DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.0250;MQ=52;MQ0=0;QD=29.12;SB=-1883.47;TI=NM_005413;GI=SIX3;FC=Synonymous_A314A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:100:99:2945,217,0:52:99:1.000 chr2 46583279 . C CT 4206.48 PASS BaseQRankSum=2.042;DP=141;FS=0.000;HRun=0;HaplotypeScore=1501.5027;MQ=51;MQ0=0;MQRankSum=2.302;QD=29.83;ReadPosRankSum=1.567;SB=-1287.06;TI=NM_001430;GI=EPAS1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:15,125:141:99:4206,353,0:51:99:0.893 chr2 46583281 rs75984373 C T 4599.36 PASS BaseQRankSum=3.159;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=268.0277;MQ=52;MQ0=0;MQRankSum=1.852;QD=31.50;ReadPosRankSum=0.306;SB=-1666.61;TI=NM_001430;GI=EPAS1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,142:146:99:4599,313,0:52:99:0.973 chr2 46603671 rs7557402 C G 2017.84 PASS BaseQRankSum=0.606;DP=225;Dels=0.00;FS=6.867;HRun=0;HaplotypeScore=17.6763;MQ=57;MQ0=0;MQRankSum=-0.327;QD=8.97;ReadPosRankSum=-1.028;SB=-949.88;TI=NM_001430;GI=EPAS1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:140,84:225:99:2048,0,3411:57:99:0.375 chr2 47601106 rs1126497 T C 920.53 PASS BaseQRankSum=0.378;DP=87;Dels=0.00;FS=0.824;HRun=0;HaplotypeScore=6.8582;MQ=50;MQ0=0;MQRankSum=-0.556;QD=10.58;ReadPosRankSum=0.183;SB=-640.67;TI=NM_002354;GI=EPCAM;FC=Missense_M115T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,44:87:99:951,0,1105:50:99:0.506 chr2 47630550 rs2303426 C G 395.36 PASS BaseQRankSum=0.348;DP=35;Dels=0.00;FS=1.387;HRun=3;HaplotypeScore=1.6988;MQ=56;MQ0=0;MQRankSum=-1.142;QD=11.30;ReadPosRankSum=0.050;SB=-158.65;TI=NM_000251;GI=MSH2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,16:35:99:425,0,504:56:99:0.457 chr2 48010488 rs1042821 G A 3517.18 PASS DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9811;MQ=54;MQ0=0;QD=27.26;SB=-2243.61;TI=NM_000179;GI=MSH6;FC=Missense_G39E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3517,253,0:54:99:1.000 chr2 48915871 rs11125179 A G 2415.08 PASS BaseQRankSum=1.432;DP=181;Dels=0.00;FS=1.948;HRun=0;HaplotypeScore=7.5681;MQ=54;MQ0=0;MQRankSum=-1.046;QD=13.34;ReadPosRankSum=-2.161;SB=-1005.83;TI=NM_001198593,NM_000233;GI=STON1-GTF2A1L,LHCGR;FC=Silent,Synonymous_D355D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,92:181:99:2445,0,2317:54:99:0.508 chr2 48921375 rs2293275 T C 1450.33 PASS BaseQRankSum=2.649;DP=144;Dels=0.00;FS=0.635;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.963;QD=10.07;ReadPosRankSum=2.213;SB=-780.64;TI=NM_001198593,NM_000233;GI=STON1-GTF2A1L,LHCGR;FC=Silent,Missense_N312S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,62:144:99:1480,0,2086:55:99:0.431 chr2 48925746 rs6755901 C T 1034.09 PASS DP=30;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=34.47;SB=-160.62;TI=NM_001198593,NM_000233;GI=STON1-GTF2A1L,LHCGR;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,30:30:78.26:1067,78,0:59:78:1.000 chr2 48982755 . G GGCTGCA 2027.42 PASS BaseQRankSum=-2.178;DP=68;FS=0.000;HRun=0;HaplotypeScore=77.5342;MQ=56;MQ0=0;MQRankSum=1.487;QD=29.82;ReadPosRankSum=-1.826;SB=-814.53;TI=NM_001198593,NM_000233;GI=STON1-GTF2A1L,LHCGR;FC=Noncoding,2AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,27:68:99:2066,0,3040:56:99:0.397 chr2 49189921 rs6166 C T 749.63 PASS BaseQRankSum=-0.406;DP=75;Dels=0.00;FS=1.222;HRun=1;HaplotypeScore=8.1250;MQ=59;MQ0=0;MQRankSum=0.200;QD=10.00;ReadPosRankSum=0.027;SB=-199.60;TI=NM_181446,NM_000145;GI=FSHR,FSHR;FC=Missense_S654N,Missense_S680N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,30:75:99:780,0,1266:59:99:0.400 chr2 49191041 rs6165 C T 1569.89 PASS BaseQRankSum=1.709;DP=115;Dels=0.00;FS=4.886;HRun=0;HaplotypeScore=3.5764;MQ=57;MQ0=0;MQRankSum=0.721;QD=13.65;ReadPosRankSum=1.260;SB=-605.26;TI=NM_181446,NM_000145;GI=FSHR,FSHR;FC=Missense_A281T,Missense_A307T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,62:115:99:1600,0,1369:57:99:0.539 chr2 55460017 rs2028139 C T 1208.62 PASS BaseQRankSum=0.951;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7502;MQ=54;MQ0=0;MQRankSum=0.810;QD=11.85;ReadPosRankSum=0.616;SB=-811.45;TI=NM_001135592,NM_002954,NM_001177413;GI=RPS27A,RPS27A,RPS27A;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,53:102:99:1239,0,1165:54:99:0.520 chr2 58388696 rs848291 A G 521.34 PASS BaseQRankSum=0.261;DP=52;Dels=0.00;FS=10.240;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.734;QD=10.03;ReadPosRankSum=-0.186;SB=-172.04;TI=NM_001114636,NM_018062;GI=FANCL,FANCL;FC=Synonymous_S332S,Synonymous_S327S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,21:52:99:551,0,776:55:99:0.404 chr2 58453930 rs79588315 A G 518.73 PASS BaseQRankSum=0.022;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.535;QD=11.28;ReadPosRankSum=1.383;SB=-284.01;TI=NM_001114636,NM_018062;GI=FANCL,FANCL;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,19:46:99:549,0,755:56:99:0.413 chr2 60687959 rs7569946 A G 3997.47 PASS DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4589;MQ=57;MQ0=0;QD=29.83;SB=-2342.29;TI=NM_018014,NM_138559,NM_022893;GI=BCL11A,BCL11A,BCL11A;FC=Synonymous_S696S,Silent,Synonymous_S696S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:134:99:3997,295,0:57:99:1.000 chr2 62052774 . CTT C 58.14 LowVariantFreq;R8 BaseQRankSum=1.376;DP=50;FS=1.199;HRun=15;HaplotypeScore=342.4934;MQ=44;MQ0=1;MQRankSum=-0.921;QD=1.16;ReadPosRankSum=2.332;SB=-62.62;TI=NM_032180;GI=FAM161A;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,4:49:95.91:96,0,783:44:58:0.121 chr2 62066927 rs4672457 A G 6546.63 PASS BaseQRankSum=0.407;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5482;MQ=55;MQ0=0;MQRankSum=0.171;QD=31.32;ReadPosRankSum=-1.304;SB=-3735.58;TI=NM_032180;GI=FAM161A;FC=Synonymous_C404C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,206:209:99:6547,412,0:55:99:0.990 chr2 62069358 rs11125895 T C 6156.08 PASS DP=222;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=27.73;SB=-4279.18;TI=NM_032180;GI=FAM161A;FC=Missense_I107M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,222:222:99:6156,436,0:54:99:1.000 chr2 62081012 rs4270331 A C 4710.08 PASS DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0085;MQ=55;MQ0=0;QD=29.26;SB=-2116.92;TI=NM_032180;GI=FAM161A;FC=Synonymous_A55A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,161:161:99:4710,343,0:55:99:1.000 chr2 62081217 rs1881616 A G 1852.67 PASS DP=55;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.9722;MQ=58;MQ0=0;QD=33.68;SB=-740.48;TI=NM_032180;GI=FAM161A;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:55:99:1886,141,0:58:99:1.000 chr2 62228013 rs55677935 C T 627.40 PASS BaseQRankSum=0.503;DP=78;Dels=0.00;FS=0.924;HRun=2;HaplotypeScore=3.5215;MQ=56;MQ0=0;MQRankSum=-0.980;QD=8.04;ReadPosRankSum=-0.715;SB=-290.00;TI=NM_152516;GI=COMMD1;FC=Missense_R120W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,26:78:99:657,0,1339:56:99:0.333 chr2 68882468 rs6722313 T C 265.42 LowDP BaseQRankSum=2.717;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=58;MQ0=0;MQRankSum=0.543;QD=14.75;ReadPosRankSum=-0.362;SB=-106.25;TI=NM_138964;GI=PROKR1;FC=Synonymous_F314F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,11:18:99:295,0,190:58:99:0.611 chr2 69300243 rs10202939 G A 798.34 PASS BaseQRankSum=1.559;DP=99;Dels=0.00;FS=1.660;HRun=0;HaplotypeScore=2.8936;MQ=49;MQ0=0;MQRankSum=0.238;QD=8.06;ReadPosRankSum=0.579;SB=-603.45;TI=NM_018153,NM_053034,NM_032208;GI=ANTXR1,ANTXR1,ANTXR1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,41:99:99:828,0,1292:49:99:0.414 chr2 69553375 . GA G 408.15 R8 BaseQRankSum=-2.729;DP=49;FS=0.000;HRun=13;HaplotypeScore=186.3276;MQ=47;MQ0=0;MQRankSum=-0.010;QD=8.33;ReadPosRankSum=-0.094;SB=-194.36;TI=NM_002056;GI=GFPT1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,18:49:99:447,0,334:47:99:0.474 chr2 69573029 rs6722492 T C 764.16 PASS BaseQRankSum=-1.790;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=-0.373;QD=10.33;ReadPosRankSum=-0.708;SB=-527.39;TI=NM_002056;GI=GFPT1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,36:74:99:794,0,961:55:99:0.486 chr2 69659126 rs4453725 A T 1813.14 PASS BaseQRankSum=1.580;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=1.780;QD=12.77;ReadPosRankSum=0.543;SB=-1219.58;TI=NM_015700,NM_001002755,NM_001002756,NM_001002757;GI=NFU1,NFU1,NFU1,NFU1;FC=Missense_M1K,Missense_M25K,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,73:142:99:1843,0,1820:55:99:0.514 chr2 71012604 rs7566541 G A 1178.11 PASS BaseQRankSum=1.949;DP=102;Dels=0.00;FS=1.639;HRun=0;HaplotypeScore=5.4154;MQ=54;MQ0=0;MQRankSum=1.011;QD=11.55;ReadPosRankSum=-0.382;SB=-743.02;TI=NM_001004311;GI=FIGLA;FC=Synonymous_H184H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,49:102:99:1208,0,1318:54:99:0.480 chr2 71012734 rs7566476 C G 1342.41 PASS BaseQRankSum=0.649;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=52;MQ0=0;MQRankSum=1.061;QD=12.20;ReadPosRankSum=-0.523;SB=-787.53;TI=NM_001004311;GI=FIGLA;FC=Missense_S141T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,54:110:99:1372,0,1376:52:99:0.491 chr2 71058184 rs13421115 C T 595.45 PASS BaseQRankSum=0.871;DP=49;Dels=0.00;FS=2.424;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-0.270;QD=12.15;ReadPosRankSum=-0.210;SB=-374.05;TI=NM_015717;GI=CD207;FC=Synonymous_P328P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,26:49:99:625,0,535:53:99:0.531 chr2 71060936 rs17718987 G C 1810.48 PASS BaseQRankSum=-0.104;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=1.612;QD=13.31;ReadPosRankSum=0.206;SB=-1236.46;TI=NM_015717;GI=CD207;FC=Missense_Q136E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,80:136:99:1840,0,1337:53:99:0.588 chr2 71062648 rs10489990 G A 1389.75 PASS BaseQRankSum=0.961;DP=115;Dels=0.00;FS=0.707;HRun=0;HaplotypeScore=8.1488;MQ=49;MQ0=0;MQRankSum=-1.046;QD=12.08;ReadPosRankSum=-1.505;SB=-771.59;TI=NM_015717;GI=CD207;FC=Missense_A55V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,58:115:99:1420,0,1455:49:99:0.509 chr2 71062833 rs72540731 G GC 4497.72 PASS DP=106;FS=0.000;HRun=1;HaplotypeScore=78.0523;MQ=59;MQ0=0;QD=42.43;SB=-1696.93;TI=NM_015717;GI=CD207;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:4498,319,0:59:99:1.000 chr2 71163086 rs11681642 T C 548.31 PASS BaseQRankSum=2.538;DP=56;Dels=0.00;FS=1.055;HRun=0;HaplotypeScore=1.7262;MQ=53;MQ0=0;MQRankSum=-0.577;QD=9.79;ReadPosRankSum=0.115;SB=-298.88;TI=NM_001692;GI=ATP6V1B1;FC=Missense_M1T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,25:56:99:578,0,849:53:99:0.446 chr2 71163111 rs17853498 T C 774.38 PASS BaseQRankSum=0.444;DP=87;Dels=0.00;FS=1.811;HRun=2;HaplotypeScore=7.7777;MQ=54;MQ0=0;MQRankSum=-0.832;QD=8.90;ReadPosRankSum=1.581;SB=-501.26;TI=NM_001692;GI=ATP6V1B1;FC=Synonymous_P9P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,36:87:99:804,0,1216:54:99:0.414 chr2 71170807 rs2266918 C T 870.98 PASS BaseQRankSum=2.035;DP=85;Dels=0.00;FS=0.836;HRun=0;HaplotypeScore=3.5489;MQ=53;MQ0=0;MQRankSum=-0.558;QD=10.25;ReadPosRankSum=0.910;SB=-667.49;TI=NM_001692;GI=ATP6V1B1;FC=Synonymous_S46S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,43:85:99:901,0,1044:53:99:0.506 chr2 71190384 rs2072462 C T 1775.18 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.74;SB=-1003.87;TI=NM_001692;GI=ATP6V1B1;FC=Synonymous_R334R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1808,132,0:53:99:1.000 chr2 71351403 rs6748672 C A 826.88 PASS BaseQRankSum=3.414;DP=55;Dels=0.00;FS=1.301;HRun=1;HaplotypeScore=3.7038;MQ=59;MQ0=0;MQRankSum=-0.733;QD=15.03;ReadPosRankSum=1.576;SB=-211.87;TI=NM_032601;GI=MCEE;FC=Missense_R104L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,29:55:99:857,0,743:59:99:0.527 chr2 71351487 rs11541017 G A 2169.03 PASS BaseQRankSum=-0.685;DP=189;Dels=0.00;FS=4.207;HRun=0;HaplotypeScore=4.5658;MQ=54;MQ0=0;MQRankSum=1.225;QD=11.48;ReadPosRankSum=1.933;SB=-1605.91;TI=NM_032601;GI=MCEE;FC=Missense_A76V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,98:189:99:2199,0,2130:54:99:0.519 chr2 71780215 rs2303596 T C 4173.70 PASS DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=25.61;SB=-3069.85;TI=NM_001130980,NM_001130978,NM_001130981,NM_003494,NM_001130976,NM_001130979,NM_001130977,NM_001130985,NM_001130982,NM_001130986,NM_001130983,NM_001130984,NM_001130987,NM_001130455;GI=DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF;FC=Synonymous_D626D,Synonymous_D609D,Synonymous_D626D,Synonymous_D609D,Synonymous_D595D,Synonymous_D640D,Synonymous_D595D,Synonymous_D627D,Synonymous_D641D,Synonymous_D596D,Synonymous_D610D,Synonymous_D596D,Synonymous_D627D,Synonymous_D610D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,163:163:99:4174,292,0:53:99:1.000 chr2 71795152 rs2288355 A T 502.53 PASS BaseQRankSum=1.617;DP=51;Dels=0.00;FS=1.250;HRun=0;HaplotypeScore=4.5109;MQ=56;MQ0=0;MQRankSum=0.584;QD=9.85;ReadPosRankSum=-0.488;SB=-200.62;TI=NM_001130980,NM_001130978,NM_001130981,NM_003494,NM_001130976,NM_001130979,NM_001130977,NM_001130985,NM_001130982,NM_001130986,NM_001130983,NM_001130984,NM_001130987,NM_001130455;GI=DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF;FC=Synonymous_S878S,Synonymous_S861S,Synonymous_S878S,Synonymous_S861S,Synonymous_S847S,Synonymous_S892S,Synonymous_S847S,Synonymous_S879S,Synonymous_S893S,Synonymous_S848S,Synonymous_S862S,Synonymous_S848S,Synonymous_S879S,Synonymous_S862S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,21:51:99:533,0,886:56:99:0.412 chr2 71838597 rs2303606 C A 2232.11 PASS BaseQRankSum=3.476;DP=193;Dels=0.00;FS=1.833;HRun=0;HaplotypeScore=9.2098;MQ=56;MQ0=0;MQRankSum=2.620;QD=11.57;ReadPosRankSum=-1.235;SB=-1173.32;TI=NM_001130980,NM_001130978,NM_001130981,NM_003494,NM_001130976,NM_001130979,NM_001130977,NM_001130985,NM_001130982,NM_001130986,NM_001130983,NM_001130984,NM_001130987,NM_001130455;GI=DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF,DYSF;FC=Synonymous_I1353I,Synonymous_I1336I,Synonymous_I1353I,Synonymous_I1336I,Synonymous_I1322I,Synonymous_I1367I,Synonymous_I1322I,Synonymous_I1354I,Synonymous_I1368I,Synonymous_I1323I,Synonymous_I1337I,Synonymous_I1323I,Synonymous_I1354I,Synonymous_I1337I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,88:193:99:2262,0,2593:56:99:0.456 chr2 73613031 . TGGAGGA T 589.68 LowVariantFreq;R8 BaseQRankSum=-2.029;DP=38;FS=0.000;HRun=0;HaplotypeScore=136.4191;MQ=55;MQ0=0;MQRankSum=0.237;QD=15.52;ReadPosRankSum=-0.817;SB=-216.23;TI=NM_015120;GI=ALMS1;FC=2AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,6:38:99:629,0,872:55:99:0.176 chr2 73613071 rs13009043 A G 95.74 SB BaseQRankSum=0.554;DP=35;Dels=0.03;FS=4.384;HRun=1;HaplotypeScore=18.1222;MQ=56;MQ0=0;MQRankSum=1.235;QD=2.74;ReadPosRankSum=-2.300;SB=-0.90;TI=NM_015120;GI=ALMS1;FC=Synonymous_E25E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,7:34:99:126,0,802:56:96:0.206 chr2 73613074 rs13009604 G A 11.59 LowVariantFreq;SB BaseQRankSum=-1.951;DP=40;Dels=0.00;FS=1.962;HRun=1;HaplotypeScore=16.2237;MQ=55;MQ0=0;MQRankSum=0.473;QD=0.29;ReadPosRankSum=-1.231;SB=-0.01;TI=NM_015120;GI=ALMS1;FC=Synonymous_E26E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,6:40:41.28:41,0,1043:55:12:0.150 chr2 73651967 rs3813227 C T 1235.50 PASS BaseQRankSum=1.566;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9998;MQ=59;MQ0=0;MQRankSum=-0.468;QD=17.40;ReadPosRankSum=-0.942;SB=-106.25;TI=NM_015120;GI=ALMS1;FC=Missense_R392C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,39:71:99:1265,0,956:59:99:0.549 chr2 73675227 . T TCTC 3410.94 PASS BaseQRankSum=-0.248;DP=147;FS=0.637;HRun=0;HaplotypeScore=103.2400;MQ=55;MQ0=0;MQRankSum=1.663;QD=23.20;ReadPosRankSum=0.661;SB=-1195.64;TI=NM_015120;GI=ALMS1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,63:147:99:3411,0,4259:55:99:0.432 chr2 73675669 rs2037814 T G 10072.15 PASS BaseQRankSum=1.654;DP=358;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.0497;MQ=54;MQ0=0;MQRankSum=0.480;QD=28.13;ReadPosRankSum=-1.286;SB=-6184.08;TI=NM_015120;GI=ALMS1;FC=Missense_V671G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,356:358:99:10072,731,0:54:99:0.997 chr2 73675844 rs7598901 C T 5146.30 PASS BaseQRankSum=3.063;DP=392;Dels=0.00;FS=1.641;HRun=2;HaplotypeScore=17.2298;MQ=55;MQ0=0;MQRankSum=1.707;QD=13.13;ReadPosRankSum=1.303;SB=-3271.62;TI=NM_015120;GI=ALMS1;FC=Synonymous_F729F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:192,199:392:99:5146,0,4790:55:99:0.509 chr2 73677548 . A G 1811.21 PASS BaseQRankSum=1.858;DP=156;Dels=0.00;FS=3.879;HRun=0;HaplotypeScore=16.8002;MQ=56;MQ0=0;MQRankSum=1.074;QD=11.61;ReadPosRankSum=-0.448;SB=-908.04;TI=NM_015120;GI=ALMS1;FC=Synonymous_Q1297Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,67:156:99:1841,0,2642:56:99:0.429 chr2 73677833 rs6546836 A G 2442.83 PASS BaseQRankSum=1.880;DP=194;Dels=0.00;FS=1.153;HRun=0;HaplotypeScore=22.4190;MQ=56;MQ0=0;MQRankSum=-1.159;QD=12.59;ReadPosRankSum=1.901;SB=-1262.07;TI=NM_015120;GI=ALMS1;FC=Synonymous_Q1392Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,96:194:99:2473,0,2638:56:99:0.497 chr2 73677898 rs6546837 G C 2225.52 PASS BaseQRankSum=4.415;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.6045;MQ=54;MQ0=0;MQRankSum=1.165;QD=12.72;ReadPosRankSum=-1.324;SB=-1239.95;TI=NM_015120;GI=ALMS1;FC=Missense_G1414A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,96:175:99:2256,0,2012:54:99:0.555 chr2 73679280 rs6546838 A G 2631.76 PASS BaseQRankSum=0.668;DP=174;Dels=0.00;FS=5.672;HRun=0;HaplotypeScore=5.3645;MQ=57;MQ0=0;MQRankSum=0.719;QD=15.13;ReadPosRankSum=0.930;SB=-983.05;TI=NM_015120;GI=ALMS1;FC=Missense_I1875V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,92:174:99:2662,0,2329:57:99:0.529 chr2 73679990 rs6724782 T A 2206.23 PASS BaseQRankSum=2.683;DP=189;Dels=0.00;FS=3.341;HRun=0;HaplotypeScore=12.1234;MQ=55;MQ0=0;MQRankSum=2.102;QD=11.67;ReadPosRankSum=0.569;SB=-1253.81;TI=NM_015120;GI=ALMS1;FC=Missense_S2111R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,84:189:99:2236,0,2884:55:99:0.444 chr2 73680508 rs6546839 G C 1845.24 PASS BaseQRankSum=0.267;DP=129;Dels=0.00;FS=4.847;HRun=3;HaplotypeScore=4.4704;MQ=58;MQ0=0;MQRankSum=0.366;QD=14.30;ReadPosRankSum=0.173;SB=-434.82;TI=NM_015120;GI=ALMS1;FC=Missense_R2284P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,59:129:99:1875,0,2012:58:99:0.457 chr2 73717567 rs2056486 G T 2383.63 PASS BaseQRankSum=2.003;DP=171;Dels=0.00;FS=2.689;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=3.812;QD=13.94;ReadPosRankSum=-1.185;SB=-1405.45;TI=NM_015120;GI=ALMS1;FC=Missense_R2826S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,92:171:99:2414,0,2091:54:99:0.538 chr2 73717656 rs10193972 A G 2760.58 PASS BaseQRankSum=4.178;DP=191;Dels=0.00;FS=1.830;HRun=0;HaplotypeScore=1.8332;MQ=55;MQ0=0;MQRankSum=0.520;QD=14.45;ReadPosRankSum=0.594;SB=-1508.03;TI=NM_015120;GI=ALMS1;FC=Missense_N2856S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,106:191:99:2791,0,2337:55:99:0.555 chr2 73746923 rs11884776 C T 1285.34 PASS BaseQRankSum=0.674;DP=77;Dels=0.00;FS=1.237;HRun=0;HaplotypeScore=1.9891;MQ=59;MQ0=0;MQRankSum=0.736;QD=16.69;ReadPosRankSum=-0.695;SB=-242.54;TI=NM_015120;GI=ALMS1;FC=Synonymous_T3186T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,44:77:99:1315,0,886:59:99:0.571 chr2 73828538 rs1052161 G A 84.90 LowDP BaseQRankSum=-0.231;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.324;QD=4.47;ReadPosRankSum=-0.417;SB=-24.41;TI=NM_015120;GI=ALMS1;FC=Missense_R4029K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,5:19:99:115,0,476:60:85:0.263 chr2 73829372 rs1052162 C T 1213.89 PASS BaseQRankSum=1.604;DP=105;Dels=0.00;FS=1.617;HRun=1;HaplotypeScore=11.5508;MQ=53;MQ0=0;MQRankSum=-0.250;QD=11.56;ReadPosRankSum=-0.465;SB=-842.27;TI=NM_015120;GI=ALMS1;FC=Synonymous_L4058L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,54:105:99:1244,0,1158:53:99:0.519 chr2 74688899 . C T 3029.35 PASS BaseQRankSum=-0.196;DP=266;Dels=0.00;FS=2.091;HRun=0;HaplotypeScore=10.7443;MQ=56;MQ0=0;MQRankSum=0.075;QD=11.39;ReadPosRankSum=-0.664;SB=-1649.69;TI=NM_006302,NM_001146158;GI=MOGS,MOGS;FC=Missense_V673I,Missense_V567I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:147,118:266:99:3059,0,4001:56:99:0.445 chr2 84676859 rs75525826 G A 24.95 LowVariantFreq;SB BaseQRankSum=-1.440;DP=30;Dels=0.00;FS=5.969;HRun=2;HaplotypeScore=26.1440;MQ=41;MQ0=0;MQRankSum=-2.879;QD=0.83;ReadPosRankSum=-1.320;SB=-0.01;TI=NM_003849;GI=SUCLG1;FC=Missense_R39W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,5:30:54.93:55,0,590:41:25:0.179 chr2 84676886 . TAAA T 352.96 LowGQ;R8;SB BaseQRankSum=0.070;DP=21;FS=21.847;HRun=25;HaplotypeScore=233.1724;MQ=34;MQ0=0;MQRankSum=-0.351;QD=16.81;ReadPosRankSum=1.335;SB=-0.02;TI=NM_003849;GI=SUCLG1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,5:21:26.69:395,27,0:34:27:0.556 chr2 85780131 rs2592551 G A 776.96 PASS BaseQRankSum=1.800;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.2374;MQ=53;MQ0=0;MQRankSum=-0.411;QD=6.88;ReadPosRankSum=1.993;SB=-564.54;TI=NM_000821,NM_001142269;GI=GGCX,GGCX;FC=Synonymous_R406R,Synonymous_R349R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,41:113:99:807,0,1799:53:99:0.366 chr2 85780536 rs699664 C T 952.05 PASS BaseQRankSum=0.495;DP=86;Dels=0.00;FS=4.488;HRun=2;HaplotypeScore=2.8897;MQ=55;MQ0=0;MQRankSum=1.414;QD=11.07;ReadPosRankSum=-1.125;SB=-307.25;TI=NM_000821,NM_001142269;GI=GGCX,GGCX;FC=Missense_R325Q,Missense_R268Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,36:86:99:982,0,1218:55:99:0.419 chr2 85780570 . CAG C 2130.02 PASS BaseQRankSum=-5.250;DP=67;FS=4.234;HRun=0;HaplotypeScore=121.8947;MQ=57;MQ0=0;MQRankSum=0.922;QD=31.79;ReadPosRankSum=0.412;SB=-656.05;TI=NM_000821,NM_001142269;GI=GGCX,GGCX;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,43:67:99:2169,0,1127:57:99:0.642 chr2 85781318 rs1254896 T G 3278.41 PASS DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5658;MQ=56;MQ0=0;QD=28.26;SB=-2003.73;TI=NM_000821,NM_001142269;GI=GGCX,GGCX;FC=Synonymous_G279G,Synonymous_G222G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3278,238,0:56:99:1.000 chr2 85894308 rs3024798 G T 1346.51 PASS BaseQRankSum=1.134;DP=120;Dels=0.00;FS=1.467;HRun=0;HaplotypeScore=7.3260;MQ=54;MQ0=0;MQRankSum=2.278;QD=11.22;ReadPosRankSum=-0.231;SB=-911.22;TI=NM_000542,NM_198843;GI=SFTPB,SFTPB;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,59:120:99:1376,0,1389:54:99:0.492 chr2 85895338 rs2077079 T G 2001.43 PASS BaseQRankSum=-0.166;DP=150;Dels=0.00;FS=3.949;HRun=2;HaplotypeScore=8.2365;MQ=53;MQ0=0;MQRankSum=1.062;QD=13.34;ReadPosRankSum=0.643;SB=-968.08;TI=NM_000542,NM_198843;GI=SFTPB,SFTPB;FC=Missense_H2P,Missense_H2P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,83:150:99:2031,0,1763:53:99:0.553 chr2 86393770 . T TA 16.87 LowVariantFreq;R8 BaseQRankSum=0.018;DP=43;FS=0.000;HRun=12;HaplotypeScore=77.2024;MQ=57;MQ0=0;MQRankSum=0.860;QD=0.39;ReadPosRankSum=0.897;SB=-22.76;TI=NM_001100169,NM_001100170,NM_006839;GI=IMMT,IMMT,IMMT;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,7:43:55.81:56,0,664:57:17:0.179 chr2 86400824 rs1050301 G A 1695.72 PASS DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=28.26;SB=-1093.70;TI=NM_001100169,NM_001100170,NM_006839;GI=IMMT,IMMT,IMMT;FC=Missense_P124S,Missense_P124S,Missense_P124S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:1729,126,0:52:99:1.000 chr2 86481835 rs2276625 C T 528.21 PASS BaseQRankSum=-0.416;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=58;MQ0=0;MQRankSum=-0.032;QD=11.24;ReadPosRankSum=-0.736;SB=-323.95;TI=NM_001164732,NM_022912,NM_001164731,NM_001164730;GI=REEP1,REEP1,REEP1,REEP1;FC=Silent,Synonymous_T95T,Synonymous_T68T,Synonymous_T102T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,22:47:99:558,0,633:58:99:0.468 chr2 88874891 rs1805165 C A 5562.80 PASS DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=57;MQ0=0;QD=27.68;SB=-2868.73;TI=NM_004836;GI=EIF2AK3;FC=Missense_A704S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,201:201:99:5563,397,0:57:99:1.000 chr2 88879131 rs1805164 T C 1054.73 PASS BaseQRankSum=-1.760;DP=68;Dels=0.00;FS=0.952;HRun=0;HaplotypeScore=0.8667;MQ=53;MQ0=0;MQRankSum=1.483;QD=15.51;ReadPosRankSum=0.675;SB=-694.07;TI=NM_004836;GI=EIF2AK3;FC=Synonymous_Q597Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,42:68:99:1085,0,611:53:99:0.618 chr2 88882942 rs6750998 T A 714.37 PASS BaseQRankSum=2.756;DP=89;Dels=0.00;FS=4.395;HRun=0;HaplotypeScore=3.7643;MQ=51;MQ0=0;MQRankSum=3.112;QD=8.03;ReadPosRankSum=1.037;SB=-286.78;TI=NM_004836;GI=EIF2AK3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,30:89:99:744,0,1460:51:99:0.337 chr2 88895123 rs13045 T C 6405.69 PASS DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5981;MQ=54;MQ0=0;QD=29.66;SB=-3706.56;TI=NM_004836;GI=EIF2AK3;FC=Missense_Q166R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,216:216:99:6406,464,0:54:99:1.000 chr2 88926729 rs72416210 CCAG C 1043.41 PASS BaseQRankSum=0.348;DP=57;FS=1.194;HRun=0;HaplotypeScore=54.4823;MQ=54;MQ0=0;MQRankSum=-0.295;QD=18.31;ReadPosRankSum=-2.779;SB=-318.95;TI=NM_004836;GI=EIF2AK3;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,23:57:99:1082,0,1327:54:99:0.404 chr2 89246822 . A G 1188.48 PASS BaseQRankSum=-0.446;DP=105;Dels=0.00;FS=2.874;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=1.756;QD=11.32;ReadPosRankSum=-0.244;SB=-334.02 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,43:105:99:1218,0,1528:52:99:0.410 chr2 89246836 . G C 1556.15 PASS BaseQRankSum=0.651;DP=129;Dels=0.00;FS=3.571;HRun=0;HaplotypeScore=3.6821;MQ=51;MQ0=0;MQRankSum=-0.088;QD=12.06;ReadPosRankSum=-1.446;SB=-434.95 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,58:129:99:1586,0,1745:51:99:0.450 chr2 89246951 rs10865492 C T 3278.79 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2480;MQ=58;MQ0=0;QD=29.02;SB=-2163.44 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3279,241,0:58:99:1.000 chr2 89247474 . C T 739.03 PASS BaseQRankSum=2.248;DP=52;Dels=0.00;FS=2.441;HRun=0;HaplotypeScore=2.7041;MQ=49;MQ0=1;MQRankSum=-0.473;QD=14.21;ReadPosRankSum=0.338;SB=-416.20 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,31:52:99:769,0,517:49:99:0.596 chr2 96780716 rs2229169 T G 8586.30 PASS DP=305;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=55;MQ0=0;QD=28.15;SB=-5358.63;TI=NM_000682;GI=ADRA2B;FC=Synonymous_G391G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,305:305:99:8586,620,0:55:99:1.000 chr2 96780986 rs34667759 C CTCCTCCTCT 2479.95 PASS DP=45;FS=0.000;HRun=0;HaplotypeScore=94.9131;MQ=43;MQ0=0;QD=55.11;SB=-667.31;TI=NM_000682;GI=ADRA2B;FC=3AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:19,20:45:75.25:2522,75,0:43:75:0.513 chr2 96952833 rs3171927 A G 3980.04 PASS DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=53;MQ0=0;QD=29.05;SB=-2378.68;TI=NM_014014;GI=SNRNP200;FC=Synonymous_L1184L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:3980,289,0:53:99:1.000 chr2 97426786 . G A 3.16 LowGQX;SB;LowDP BaseQRankSum=0.727;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4941;MQ=54;MQ0=0;MQRankSum=0.727;QD=0.79;ReadPosRankSum=0.727;SB=-0.01;TI=NM_020184;GI=CNNM4;FC=Missense_G17E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,1:4:30.29:30,0,69:54:3:0.250 chr2 99149946 rs2278211 G A 1312.83 PASS BaseQRankSum=1.689;DP=125;Dels=0.00;FS=4.515;HRun=0;HaplotypeScore=3.8886;MQ=49;MQ0=0;MQRankSum=-0.294;QD=10.50;ReadPosRankSum=0.121;SB=-829.19;TI=NM_001566,NM_001134225,NM_004027,NM_001134224;GI=INPP4A,INPP4A,INPP4A,INPP4A;FC=Synonymous_T86T,Synonymous_T86T,Synonymous_T86T,Synonymous_T86T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,59:125:99:1343,0,1676:49:99:0.472 chr2 99172244 rs2278206 A G 1566.61 PASS BaseQRankSum=-0.557;DP=135;Dels=0.00;FS=6.496;HRun=0;HaplotypeScore=2.7815;MQ=52;MQ0=0;MQRankSum=2.060;QD=11.60;ReadPosRankSum=-1.152;SB=-818.74;TI=NM_001566,NM_001134225,NM_004027,NM_001134224;GI=INPP4A,INPP4A,INPP4A,INPP4A;FC=Silent,Missense_T599A,Silent,Missense_T604A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,64:135:99:1597,0,1759:52:99:0.474 chr2 99193496 rs2230388 C T 3009.08 PASS BaseQRankSum=2.381;DP=287;Dels=0.00;FS=0.439;HRun=0;HaplotypeScore=16.9160;MQ=53;MQ0=0;MQRankSum=1.907;QD=10.48;ReadPosRankSum=1.636;SB=-1843.07;TI=NM_001566,NM_001134225,NM_004027,NM_001134224;GI=INPP4A,INPP4A,INPP4A,INPP4A;FC=Synonymous_S858S,Synonymous_S892S,Synonymous_S858S,Synonymous_S897S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:159,127:287:99:3039,0,3623:53:99:0.444 chr2 100218080 rs4851214 G A 1412.87 PASS BaseQRankSum=0.099;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7844;MQ=57;MQ0=0;MQRankSum=0.236;QD=11.49;ReadPosRankSum=0.673;SB=-742.86;TI=NM_001025108,NM_002285;GI=AFF3,AFF3;FC=Synonymous_A421A,Synonymous_A396A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,56:123:99:1443,0,1712:57:99:0.455 chr2 100343557 rs4851223 C T 2230.34 PASS DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=25.93;SB=-1566.05;TI=NM_001025108,NM_002285;GI=AFF3,AFF3;FC=Missense_S383N,Missense_S358N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2263,160,0:51:99:1.000 chr2 100623927 . A G 1813.73 PASS BaseQRankSum=-1.195;DP=136;Dels=0.00;FS=2.576;HRun=2;HaplotypeScore=4.8579;MQ=56;MQ0=0;MQRankSum=0.611;QD=13.34;ReadPosRankSum=-0.749;SB=-658.21;TI=NM_001025108,NM_002285;GI=AFF3,AFF3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,71:136:99:1844,0,1696:56:99:0.530 chr2 101580575 rs41280595 G A 1615.36 PASS BaseQRankSum=1.593;DP=143;Dels=0.00;FS=2.151;HRun=0;HaplotypeScore=4.4156;MQ=53;MQ0=0;MQRankSum=-0.684;QD=11.30;ReadPosRankSum=-3.067;SB=-1151.02;TI=NM_002518;GI=NPAS2;FC=Synonymous_V218V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,73:143:99:1645,0,1641:53:99:0.510 chr2 101587455 rs1562313 C T 1160.40 PASS BaseQRankSum=-0.304;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8933;MQ=50;MQ0=0;MQRankSum=0.674;QD=12.48;ReadPosRankSum=-0.805;SB=-676.04;TI=NM_002518;GI=NPAS2;FC=Synonymous_Y353Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,50:93:99:1190,0,1004:50:99:0.538 chr2 101591304 rs2305160 A G 3388.95 PASS DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;QD=27.11;SB=-2490.31;TI=NM_002518;GI=NPAS2;FC=Missense_T394A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3389,241,0:52:99:1.000 chr2 101594191 rs11541353 C T 1513.75 PASS BaseQRankSum=-0.404;DP=115;Dels=0.00;FS=1.578;HRun=1;HaplotypeScore=6.5105;MQ=52;MQ0=0;MQRankSum=-0.524;QD=13.16;ReadPosRankSum=-0.914;SB=-995.13;TI=NM_002518;GI=NPAS2;FC=Missense_S471L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,70:115:99:1544,0,948:52:99:0.609 chr2 102018908 rs2175968 A G 146.96 PASS BaseQRankSum=-0.228;DP=20;Dels=0.00;FS=7.968;HRun=0;HaplotypeScore=0.8941;MQ=49;MQ0=0;MQRankSum=-2.051;QD=7.35;ReadPosRankSum=1.823;SB=-119.34;TI=NM_001145664;GI=RFX8;FC=Missense_M412T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,9:20:99:177,0,319:49:99:0.450 chr2 102038849 rs4851436 T A 4049.22 PASS DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.92;SB=-1955.36;TI=NM_001145664;GI=RFX8;FC=Missense_Q53L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,139:140:99:4049,292,0:53:99:1.000 chr2 102955468 rs1041973 C A 1891.82 PASS BaseQRankSum=-0.027;DP=174;Dels=0.00;FS=0.583;HRun=1;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=0.345;QD=10.87;ReadPosRankSum=0.827;SB=-881.81;TI=NM_016232,NM_003856;GI=IL1RL1,IL1RL1;FC=Missense_A78E,Missense_A78E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,77:174:99:1922,0,2489:55:99:0.443 chr2 102984279 rs1420098 T C 1825.06 PASS BaseQRankSum=-2.058;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9993;MQ=56;MQ0=0;MQRankSum=0.412;QD=28.97;ReadPosRankSum=0.059;SB=-1004.88;TI=NM_003855;GI=IL18R1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,61:63:96.70:1858,97,0:56:97:0.968 chr2 103001402 rs1035130 C T 1647.47 PASS BaseQRankSum=0.934;DP=126;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.5653;MQ=51;MQ0=0;MQRankSum=1.453;QD=13.08;ReadPosRankSum=-1.176;SB=-1001.26;TI=NM_003855;GI=IL18R1;FC=Synonymous_F251F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,73:126:99:1677,0,1165:51:99:0.579 chr2 105885961 rs2241797 T C 2659.76 PASS BaseQRankSum=-0.565;DP=195;Dels=0.01;FS=1.153;HRun=0;HaplotypeScore=39.1217;MQ=57;MQ0=0;MQRankSum=1.182;QD=13.64;ReadPosRankSum=0.248;SB=-1204.76;TI=NM_001142621,NM_004257;GI=TGFBRAP1,TGFBRAP1;FC=Missense_H725R,Missense_H725R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,97:194:99:2690,0,2584:57:99:0.500 chr2 105889349 rs11676273 G A 2165.48 PASS BaseQRankSum=0.094;DP=204;Dels=0.00;FS=4.043;HRun=1;HaplotypeScore=5.5278;MQ=54;MQ0=0;MQRankSum=2.730;QD=10.62;ReadPosRankSum=-0.406;SB=-1292.49;TI=NM_001142621,NM_004257;GI=TGFBRAP1,TGFBRAP1;FC=Synonymous_L645L,Synonymous_L645L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,94:204:99:2195,0,2534:54:99:0.461 chr2 105977761 rs11124029 G A 835.80 PASS BaseQRankSum=0.381;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7599;MQ=54;MQ0=0;MQRankSum=1.456;QD=10.45;ReadPosRankSum=0.479;SB=-428.76;TI=NM_001039492,NM_201555,NM_001450,NM_201557;GI=FHL2,FHL2,FHL2,FHL2;FC=Synonymous_P273P,Synonymous_P273P,Synonymous_P273P,Synonymous_P273P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,33:80:99:866,0,1229:54:99:0.413 chr2 105979752 . G A 1391.34 PASS BaseQRankSum=-1.352;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9814;MQ=55;MQ0=0;MQRankSum=0.102;QD=8.86;ReadPosRankSum=1.520;SB=-710.68;TI=NM_001039492,NM_201555,NM_001450,NM_201557;GI=FHL2,FHL2,FHL2,FHL2;FC=Synonymous_N226N,Synonymous_N226N,Synonymous_N226N,Synonymous_N226N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,63:157:99:1421,0,2351:55:99:0.401 chr2 109389463 rs826580 G A 5110.30 PASS DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2038;MQ=57;MQ0=0;QD=32.97;SB=-2718.95;TI=NM_006267;GI=RANBP2;FC=Synonymous_E2751E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:5110,379,0:57:99:1.000 chr2 109513654 rs12623957 G A 1088.53 SB DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=38.88;SB=-0.01;TI=NM_022336;GI=EDAR;FC=Synonymous_C352C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,28:28:84.28:1122,84,0:60:84:1.000 chr2 109526969 rs260632 G A 3076.15 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8914;MQ=52;MQ0=0;QD=29.02;SB=-1979.50;TI=NM_022336;GI=EDAR;FC=Synonymous_S250S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:3109,226,0:52:99:1.000 chr2 110922087 . G A 4.99 LowGQX;SB;LowDP BaseQRankSum=-1.920;DP=8;Dels=0.00;FS=3.680;HRun=3;HaplotypeScore=10.1801;MQ=43;MQ0=0;MQRankSum=-1.920;QD=0.62;ReadPosRankSum=0.322;SB=-0.01;TI=NM_001128178,NM_207181,NM_000272,NM_001128179;GI=NPHP1,NPHP1,NPHP1,NPHP1;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,3:8:33.33:33,0,134:43:5:0.375 chr2 110922703 rs11675767 C T 1318.14 PASS BaseQRankSum=-1.263;DP=112;Dels=0.00;FS=1.519;HRun=1;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=0.751;QD=11.77;ReadPosRankSum=-0.646;SB=-905.94;TI=NM_001128178,NM_207181,NM_000272,NM_001128179;GI=NPHP1,NPHP1,NPHP1,NPHP1;FC=Synonymous_E218E,Synonymous_E218E,Synonymous_E218E,Synonymous_E156E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,55:112:99:1348,0,1471:52:99:0.491 chr2 112526866 rs1044864 G A 187.88 PASS BaseQRankSum=2.137;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=19;MQ0=40;MQRankSum=-0.868;QD=3.03;ReadPosRankSum=-0.868;SB=-105.28;TI=NM_022662;GI=ANAPC1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,16:62:99:218,0,195:19:99:0.258 chr2 112536264 rs939797;rs76115652 G T 481.93 LowGQ BaseQRankSum=1.531;DP=55;Dels=0.00;FS=7.270;HRun=0;HaplotypeScore=0.0000;MQ=22;MQ0=38;MQRankSum=0.102;QD=8.76;ReadPosRankSum=-0.102;SB=-59.97;TI=NM_022662;GI=ANAPC1;FC=Synonymous_I1791I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,54:55:23.43:515,23,0:22:23:0.982 chr2 112551673 rs2249027 G A 170.21 SB BaseQRankSum=1.086;DP=53;Dels=0.00;FS=13.465;HRun=0;HaplotypeScore=6.2586;MQ=43;MQ0=0;MQRankSum=-1.941;QD=3.21;ReadPosRankSum=0.384;SB=-0.01;TI=NM_022662;GI=ANAPC1;FC=Synonymous_S1500S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,11:53:99:200,0,1117:43:99:0.208 chr2 112552427 rs56780932 C T 311.41 PASS BaseQRankSum=-0.825;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=13;MQ0=104;MQRankSum=-1.123;QD=2.16;ReadPosRankSum=-0.392;SB=-158.17;TI=NM_022662;GI=ANAPC1;FC=Synonymous_P1447P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,35:144:99:341,0,363:13:99:0.243 chr2 112560090 rs2010034 G A 49.69 SB BaseQRankSum=0.643;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=7;MQ0=128;MQRankSum=-1.209;QD=0.32;ReadPosRankSum=-0.540;SB=-0.01;TI=NM_022662;GI=ANAPC1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,35:154:79.69:80,0,113:7:50:0.227 chr2 112566517 rs77453296 C T 402.81 PASS BaseQRankSum=1.141;DP=150;Dels=0.00;FS=9.332;HRun=1;HaplotypeScore=1.7882;MQ=12;MQ0=104;MQRankSum=1.562;QD=2.69;ReadPosRankSum=0.809;SB=-190.74;TI=NM_022662;GI=ANAPC1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,34:150:99:433,0,216:12:99:0.227 chr2 112605302 rs4848197;rs77448997 C T 589.04 PASS DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=31;MQ0=13;QD=17.32;SB=-207.05;TI=NM_022662;GI=ANAPC1;FC=Synonymous_L597L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:51.14:622,51,0:31:51:1.000 chr2 112614384 . C G 265.11 PASS BaseQRankSum=2.566;DP=129;Dels=0.00;FS=10.484;HRun=1;HaplotypeScore=2.8937;MQ=48;MQ0=5;MQRankSum=-4.824;QD=2.06;ReadPosRankSum=0.412;SB=-129.23;TI=NM_022662;GI=ANAPC1;FC=Missense_A480P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,28:129:99:295,0,2971:48:99:0.220 chr2 112614429 rs72936240 G A 258.92 LowVariantFreq BaseQRankSum=2.251;DP=190;Dels=0.00;FS=5.529;HRun=0;HaplotypeScore=11.9842;MQ=48;MQ0=3;MQRankSum=-4.995;QD=1.36;ReadPosRankSum=4.322;SB=-81.63;TI=NM_022662;GI=ANAPC1;FC=Nonsense_Q465X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:160,30:190:99:289,0,4097:48:99:0.158 chr2 112615888 rs79100806 C G 176.49 LowVariantFreq BaseQRankSum=2.322;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6546;MQ=46;MQ0=1;MQRankSum=-3.088;QD=1.84;ReadPosRankSum=-4.639;SB=-158.67;TI=NM_022662;GI=ANAPC1;FC=Missense_Q451H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,16:96:99:206,0,1931:46:99:0.167 chr2 112615933 rs72936244;rs78683369 T C 335.78 LowVariantFreq BaseQRankSum=1.474;DP=167;Dels=0.00;FS=1.719;HRun=0;HaplotypeScore=0.8941;MQ=41;MQ0=10;MQRankSum=-1.502;QD=2.01;ReadPosRankSum=-0.163;SB=-246.80;TI=NM_022662;GI=ANAPC1;FC=Synonymous_L436L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:138,29:167:99:366,0,3032:41:99:0.174 chr2 112751928 rs7604639 G A 2525.08 PASS DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.37;SB=-1336.30;TI=NM_006343;GI=MERTK;FC=Missense_R466K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2558,187,0:53:99:1.000 chr2 112755001 rs2230515 A G 4023.00 PASS DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6132;MQ=53;MQ0=0;QD=26.82;SB=-2912.15;TI=NM_006343;GI=MERTK;FC=Missense_I518V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:4023,286,0:53:99:1.000 chr2 112765973 rs1131244 A G 2732.14 PASS DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=56;MQ0=0;QD=27.32;SB=-1902.22;TI=NM_006343;GI=MERTK;FC=Synonymous_S627S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:100:99:2765,199,0:56:99:1.000 chr2 112779010 . A T 906.90 PASS BaseQRankSum=1.018;DP=76;Dels=0.00;FS=6.189;HRun=0;HaplotypeScore=7.5148;MQ=56;MQ0=0;MQRankSum=0.395;QD=11.93;ReadPosRankSum=0.312;SB=-377.23;TI=NM_006343;GI=MERTK;FC=Missense_D734V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,37:76:99:937,0,862:56:99:0.487 chr2 113537223 rs17561 C A 460.27 PASS BaseQRankSum=0.441;DP=42;Dels=0.00;FS=1.210;HRun=0;HaplotypeScore=0.9947;MQ=58;MQ0=0;MQRankSum=1.750;QD=10.96;ReadPosRankSum=-0.164;SB=-289.28;TI=NM_000575;GI=IL1A;FC=Missense_A114S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,22:42:99:490,0,428:58:99:0.524 chr2 113590390 rs1143634 G A 239.18 LowDP BaseQRankSum=0.883;DP=18;Dels=0.00;FS=4.752;HRun=2;HaplotypeScore=2.6548;MQ=59;MQ0=0;MQRankSum=0.530;QD=13.29;ReadPosRankSum=0.706;SB=-60.24;TI=NM_000576;GI=IL1B;FC=Synonymous_F105F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,9:18:99:269,0,259:59:99:0.500 chr2 113890304 rs315952 T C 1340.97 PASS BaseQRankSum=1.359;DP=133;Dels=0.00;FS=1.417;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=2.856;QD=10.08;ReadPosRankSum=1.713;SB=-770.91;TI=NM_000577,NM_173841,NM_173843,NM_173842;GI=IL1RN,IL1RN,IL1RN,IL1RN;FC=Synonymous_S112S,Synonymous_S133S,Synonymous_S96S,Synonymous_S130S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,58:133:99:1371,0,1855:54:99:0.436 chr2 115219528 rs17712682 G A 2210.92 PASS BaseQRankSum=3.543;DP=173;Dels=0.00;FS=4.477;HRun=1;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=-0.464;QD=12.78;ReadPosRankSum=-0.573;SB=-1275.41;TI=NM_020868,NM_001178036;GI=DPP10,DPP10;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,82:173:99:2241,0,2597:56:99:0.474 chr2 116497479 rs1550854 A G 2547.57 PASS DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=33.97;SB=-757.92;TI=NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360;GI=DPP10,DPP10,DPP10,DPP10,DPP10;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2581,193,0:58:99:1.000 chr2 116510817 rs2053724 G C 2928.24 PASS BaseQRankSum=3.223;DP=221;Dels=0.00;FS=0.502;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=2.762;QD=13.25;ReadPosRankSum=0.289;SB=-1693.89;TI=NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360;GI=DPP10,DPP10,DPP10,DPP10,DPP10;FC=Missense_A340P,Missense_A290P,Missense_A336P,Missense_A344P,Missense_A333P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,122:221:99:2958,0,2348:54:99:0.552 chr2 116525960 rs1446495 G A 5147.83 PASS DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5305;MQ=54;MQ0=0;QD=27.24;SB=-3156.32;TI=NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360;GI=DPP10,DPP10,DPP10,DPP10,DPP10;FC=Missense_V401I,Missense_V351I,Missense_V397I,Missense_V405I,Missense_V394I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,188:189:99:5148,367,0:54:99:1.000 chr2 116599927 rs272009 T C 3144.19 PASS DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=25.56;SB=-2121.48;TI=NM_020868,NM_001178036,NM_001178037,NM_001178034,NM_001004360;GI=DPP10,DPP10,DPP10,DPP10,DPP10;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:123:99:3177,223,0:55:99:1.000 chr2 120125029 rs2084202 A G 1098.20 PASS DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5796;MQ=52;MQ0=0;QD=29.68;SB=-679.30;TI=NM_001079862,NM_001178041,NM_001178043,NM_001178042,NM_020548,NM_001178017;GI=DBI,DBI,DBI,DBI,DBI,DBI;FC=Silent,Synonymous_R20R,Silent,Silent,Silent,Synonymous_R39R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,37:37:84.27:1131,84,0:52:84:1.000 chr2 121726447 rs2592595 G A 2085.19 PASS BaseQRankSum=1.687;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.5254;MQ=53;MQ0=0;MQRankSum=1.597;QD=26.73;ReadPosRankSum=-0.832;SB=-1233.46;TI=NM_005270;GI=GLI2;FC=Synonymous_S267S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,76:78:99:2118,153,0:53:99:0.987 chr2 121746956 rs3738880 G T 7269.92 PASS BaseQRankSum=1.422;DP=259;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=23.3762;MQ=55;MQ0=0;MQRankSum=1.597;QD=28.07;ReadPosRankSum=1.085;SB=-4248.05;TI=NM_005270;GI=GLI2;FC=Missense_A1156S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,256:259:99:7270,500,0:55:99:0.996 chr2 121747406 rs12711538 G A 1871.36 PASS DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4688;MQ=56;MQ0=0;QD=33.42;SB=-751.63;TI=NM_005270;GI=GLI2;FC=Missense_D1306N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:1904,144,0:56:99:1.000 chr2 121747429 rs10167980 A G 1927.11 PASS DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3206;MQ=55;MQ0=0;QD=30.59;SB=-801.13;TI=NM_005270;GI=GLI2;FC=Synonymous_P1313P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1960,147,0:55:99:1.000 chr2 125192068 rs1425745 T C 3776.94 PASS DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7815;MQ=55;MQ0=0;QD=28.83;SB=-2329.66;TI=NM_130773;GI=CNTNAP5;FC=Synonymous_D179D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3777,271,0:55:99:1.000 chr2 125281910 rs17727261 C T 2024.99 PASS BaseQRankSum=1.205;DP=188;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.0330;MQ=52;MQ0=0;MQRankSum=-1.058;QD=10.77;ReadPosRankSum=-0.703;SB=-1275.36;TI=NM_130773;GI=CNTNAP5;FC=Missense_S452L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,89:188:99:2055,0,2222:52:99:0.473 chr2 127453664 rs1050967 A C 808.36 PASS BaseQRankSum=-1.004;DP=86;Dels=0.00;FS=2.923;HRun=0;HaplotypeScore=6.4694;MQ=55;MQ0=0;MQRankSum=1.613;QD=9.40;ReadPosRankSum=0.187;SB=-570.65;TI=NM_002101,NM_016815;GI=GYPC,GYPC;FC=Synonymous_G111G,Synonymous_G92G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,38:86:99:838,0,1177:55:99:0.442 chr2 127816632 rs2276579 G A 3330.13 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2717;MQ=55;MQ0=0;QD=29.47;SB=-1721.04;TI=NM_139348,NM_139349,NM_139343,NM_139351,NM_139344,NM_139345,NM_139347,NM_004305,NM_139346,NM_139350;GI=BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1;FC=Synonymous_A288A,Synonymous_A288A,Synonymous_A319A,Synonymous_A288A,Synonymous_A319A,Synonymous_A319A,Synonymous_A288A,Synonymous_A303A,Synonymous_A303A,Synonymous_A288A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3330,247,0:55:99:1.000 chr2 127821499 rs72481904 T C 2231.01 PASS DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4941;MQ=53;MQ0=0;QD=27.21;SB=-1399.95;TI=NM_139348,NM_139349,NM_139343,NM_139351,NM_139344,NM_139345,NM_139347,NM_004305,NM_139346,NM_139350;GI=BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2264,166,0:53:99:1.000 chr2 127826533 rs1060743 A G 2284.26 PASS DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=52;MQ0=0;QD=27.86;SB=-1463.11;TI=NM_139348,NM_139349,NM_139343,NM_139351,NM_139344,NM_139345,NM_139347,NM_004305,NM_139346,NM_139350;GI=BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1,BIN1;FC=Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T,Synonymous_T162T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:82:99:2317,166,0:52:99:1.000 chr2 128180872 rs5936 G T 1925.36 PASS DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=31.05;SB=-963.85;TI=NM_000312;GI=PROC;FC=Synonymous_S141S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,62:62:99:1958,144,0:55:99:1.000 chr2 128184770 rs5937 T C 5660.11 PASS BaseQRankSum=1.648;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8251;MQ=52;MQ0=0;MQRankSum=1.665;QD=27.34;ReadPosRankSum=0.577;SB=-3966.40;TI=NM_000312;GI=PROC;FC=Synonymous_D256D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,206:207:99:5660,403,0:52:99:0.995 chr2 128335709 . G T 1484.12 PASS BaseQRankSum=3.728;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.8666;MQ=55;MQ0=0;MQRankSum=3.162;QD=10.31;ReadPosRankSum=0.344;SB=-616.97;TI=NM_001080527;GI=MYO7B;FC=Missense_G284V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,61:144:99:1514,0,2160:55:99:0.424 chr2 128366272 rs17261971 G A 1361.41 PASS BaseQRankSum=1.486;DP=110;Dels=0.00;FS=0.837;HRun=0;HaplotypeScore=3.7877;MQ=57;MQ0=0;MQRankSum=0.437;QD=12.38;ReadPosRankSum=1.793;SB=-353.64;TI=NM_001080527;GI=MYO7B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,48:110:99:1391,0,1715:57:99:0.436 chr2 128367092 rs777432 G A 3081.83 PASS BaseQRankSum=1.938;DP=116;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.2032;MQ=54;MQ0=0;MQRankSum=-0.293;QD=26.57;ReadPosRankSum=-1.153;SB=-1955.78;TI=NM_001080527;GI=MYO7B;FC=Synonymous_S942S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:6,110:116:99:3115,123,0:54:99:0.948 chr2 128379563 rs61744148 C G 3076.37 PASS BaseQRankSum=1.853;DP=282;Dels=0.00;FS=0.437;HRun=0;HaplotypeScore=12.4898;MQ=53;MQ0=0;MQRankSum=1.531;QD=10.91;ReadPosRankSum=0.123;SB=-2028.98;TI=NM_001080527;GI=MYO7B;FC=Missense_L1152V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:145,136:282:99:3106,0,3468:53:99:0.484 chr2 128381808 rs13422424 C T 2378.76 PASS BaseQRankSum=1.316;DP=154;Dels=0.00;FS=3.965;HRun=0;HaplotypeScore=5.4866;MQ=57;MQ0=0;MQRankSum=1.395;QD=15.45;ReadPosRankSum=1.426;SB=-1541.93;TI=NM_001080527;GI=MYO7B;FC=Synonymous_H1294H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,100:154:99:2409,0,1279:57:99:0.649 chr2 128388790 rs13025791 G A 2621.17 PASS BaseQRankSum=1.829;DP=197;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.6525;MQ=54;MQ0=0;MQRankSum=1.089;QD=13.31;ReadPosRankSum=1.761;SB=-1262.15;TI=NM_001080527;GI=MYO7B;FC=Synonymous_E1623E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,106:197:99:2651,0,2146:54:99:0.538 chr2 128388862 rs13025959 G C 3228.29 PASS BaseQRankSum=0.968;DP=289;Dels=0.00;FS=0.908;HRun=2;HaplotypeScore=7.2259;MQ=54;MQ0=0;MQRankSum=0.091;QD=11.17;ReadPosRankSum=-2.530;SB=-2111.78;TI=NM_001080527;GI=MYO7B;FC=Missense_E1647D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:145,144:289:99:3259,0,3478:54:99:0.498 chr2 128392688 rs13391954 C T 1324.53 PASS BaseQRankSum=1.862;DP=88;Dels=0.00;FS=4.247;HRun=1;HaplotypeScore=6.5589;MQ=54;MQ0=0;MQRankSum=-0.396;QD=15.05;ReadPosRankSum=-1.198;SB=-764.02;TI=NM_001080527;GI=MYO7B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,55:88:99:1355,0,788:54:99:0.625 chr2 128393289 rs2255177 T C 492.98 PASS BaseQRankSum=2.375;DP=46;Dels=0.00;FS=5.664;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=1.677;QD=10.72;ReadPosRankSum=0.124;SB=-67.62;TI=NM_001080527;GI=MYO7B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,18:46:99:523,0,820:55:99:0.391 chr2 128393800 rs2255161 T C 1503.70 PASS BaseQRankSum=0.475;DP=138;Dels=0.00;FS=0.656;HRun=0;HaplotypeScore=6.6371;MQ=53;MQ0=0;MQRankSum=1.302;QD=10.90;ReadPosRankSum=0.718;SB=-824.44;TI=NM_001080527;GI=MYO7B;FC=Synonymous_Y1982Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,66:138:99:1534,0,1727:53:99:0.478 chr2 128394955 rs11686946 A G 2201.86 PASS BaseQRankSum=2.755;DP=205;Dels=0.00;FS=4.905;HRun=1;HaplotypeScore=7.1552;MQ=60;MQ0=0;MQRankSum=4.408;QD=10.74;ReadPosRankSum=1.278;SB=-1345.85;TI=NM_001080527;GI=MYO7B;FC=Missense_Q2105R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,100:205:99:2232,0,2516:60:99:0.488 chr2 135911422 rs17261772 T C 3878.34 PASS BaseQRankSum=3.927;DP=272;Dels=0.00;FS=0.941;HRun=0;HaplotypeScore=10.0413;MQ=56;MQ0=0;MQRankSum=0.763;QD=14.26;ReadPosRankSum=-0.178;SB=-2282.38;TI=NM_001172435,NM_012233;GI=RAB3GAP1,RAB3GAP1;FC=Synonymous_F755F,Synonymous_F755F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,149:272:99:3878,0,3056:56:99:0.550 chr2 136546110 rs2278544 A G 554.61 PASS BaseQRankSum=0.936;DP=47;Dels=0.00;FS=1.260;HRun=1;HaplotypeScore=0.8667;MQ=55;MQ0=0;MQRankSum=0.484;QD=11.80;ReadPosRankSum=1.560;SB=-147.86;TI=NM_002299;GI=LCT;FC=Synonymous_A1856A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,20:47:99:585,0,645:55:99:0.426 chr2 136555659 rs2322659 T C 1131.44 PASS BaseQRankSum=-0.641;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=51;MQ0=0;MQRankSum=1.713;QD=9.92;ReadPosRankSum=2.166;SB=-822.63;TI=NM_002299;GI=LCT;FC=Missense_N1639S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,55:114:99:1161,0,1393:51:99:0.482 chr2 136561557 rs2304371 G A 2904.06 PASS DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6820;MQ=51;MQ0=0;QD=25.25;SB=-2203.71;TI=NM_002299;GI=LCT;FC=Synonymous_L1536L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:2937,208,0:51:99:1.000 chr2 136562472 rs3739022 G A 934.56 PASS BaseQRankSum=1.364;DP=103;Dels=0.00;FS=5.015;HRun=0;HaplotypeScore=10.6194;MQ=54;MQ0=0;MQRankSum=0.704;QD=9.07;ReadPosRankSum=0.488;SB=-588.42;TI=NM_002299;GI=LCT;FC=Synonymous_G1443G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,41:103:99:965,0,1443:54:99:0.398 chr2 136575199 rs6719488 G T 3795.67 PASS BaseQRankSum=3.409;DP=261;Dels=0.00;FS=3.512;HRun=0;HaplotypeScore=7.1596;MQ=57;MQ0=0;MQRankSum=1.159;QD=14.54;ReadPosRankSum=-0.512;SB=-2041.00;TI=NM_002299;GI=LCT;FC=Synonymous_G473G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,139:261:99:3796,0,2914:57:99:0.533 chr2 136575534 rs4954449 T C 5641.81 PASS BaseQRankSum=1.623;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6770;MQ=55;MQ0=0;MQRankSum=1.696;QD=29.69;ReadPosRankSum=0.073;SB=-2915.76;TI=NM_002299;GI=LCT;FC=Missense_I362V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,189:190:99:5642,387,0:55:99:0.995 chr2 136594158 rs2236783 G A 1982.08 PASS BaseQRankSum=0.668;DP=161;Dels=0.00;FS=1.382;HRun=0;HaplotypeScore=9.2202;MQ=57;MQ0=0;MQRankSum=0.590;QD=12.31;ReadPosRankSum=0.739;SB=-656.04;TI=NM_002299;GI=LCT;FC=Synonymous_T194T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,78:161:99:2012,0,2156:57:99:0.484 chr2 148701099 rs66919703 GA G 371.87 R8 BaseQRankSum=-1.928;DP=33;FS=4.055;HRun=15;HaplotypeScore=119.4865;MQ=46;MQ0=0;MQRankSum=-0.084;QD=11.27;ReadPosRankSum=0.838;SB=-90.05;TI=NM_001190882,NM_001190879,NM_002552,NM_001190881,NM_181741,NM_181742;GI=ORC4,ORC4,ORC4,ORC4,ORC4,ORC4;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,18:33:74.34:411,0,74:46:74:0.600 chr2 148730367 rs2307397 G C 1220.81 PASS BaseQRankSum=1.241;DP=108;Dels=0.00;FS=2.518;HRun=0;HaplotypeScore=1.8835;MQ=52;MQ0=0;MQRankSum=-1.579;QD=11.30;ReadPosRankSum=0.565;SB=-681.17;TI=NM_001190882,NM_001190879,NM_002552,NM_001190881,NM_181741,NM_181742;GI=ORC4,ORC4,ORC4,ORC4,ORC4,ORC4;FC=Silent,Missense_L56V,Missense_L56V,Silent,Missense_L56V,Missense_L56V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,55:108:99:1251,0,1327:52:99:0.509 chr2 150432976 rs11545261 C T 3454.91 PASS DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1501;MQ=49;MQ0=0;QD=26.58;SB=-2549.39;TI=NM_015702;GI=MMADHC;FC=Synonymous_Q151Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:3455,244,0:49:99:1.000 chr2 152352843 rs7575451 C G 2599.14 PASS DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=29.88;SB=-1312.11;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_A6277P,Missense_A8145P,Missense_A8145P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2632,193,0:54:99:1.000 chr2 152387553 rs4664475 T C 1986.11 PASS DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.97;SB=-1266.38;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_T5482T,Synonymous_T7195T,Synonymous_T7195T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:2019,144,0:53:99:1.000 chr2 152388415 . AT A 3319.40 PASS DP=80;FS=0.000;HRun=2;HaplotypeScore=20.2985;MQ=55;MQ0=0;QD=41.49;SB=-1225.06;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:80:99:3319,238,0:55:99:1.000 chr2 152402515 . T TAA,TA 352.00 R8 BaseQRankSum=0.191;DP=37;FS=1.725;HaplotypeScore=116.1682;MQ=51;MQ0=0;MQRankSum=0.531;QD=9.51;ReadPosRankSum=0.191;SB=-199.51;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:7,7,18:37:72.45:430,186,288,73,0,72:51:72:0.781 chr2 152420361 . C T 2599.09 PASS BaseQRankSum=0.501;DP=194;Dels=0.00;FS=5.746;HRun=2;HaplotypeScore=7.4588;MQ=53;MQ0=0;MQRankSum=2.463;QD=13.40;ReadPosRankSum=-0.292;SB=-780.65;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_K4472K,Synonymous_K6185K,Synonymous_K6185K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,97:194:99:2629,0,2398:53:99:0.500 chr2 152422076 rs2288210 C G 4338.59 PASS DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=31.21;SB=-2141.61;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_R4389T,Missense_R6102T,Missense_R6102T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,139:139:99:4339,316,0:57:99:1.000 chr2 152422087 rs2288211 A G 4015.06 PASS DP=127;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=58;MQ0=0;QD=31.61;SB=-1990.33;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_Y4385Y,Synonymous_Y6098Y,Synonymous_Y6098Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:4015,292,0:58:99:1.000 chr2 152424933 . T TA 661.49 R8 BaseQRankSum=0.878;DP=71;FS=7.400;HRun=13;HaplotypeScore=261.0360;MQ=53;MQ0=0;MQRankSum=-0.073;QD=9.32;ReadPosRankSum=-0.905;SB=-172.42;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Splicing,Splicing,Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,31:71:99:701,0,311:53:99:0.517 chr2 152427080 . C A 509.25 PASS BaseQRankSum=0.528;DP=48;Dels=0.00;FS=4.144;HRun=0;HaplotypeScore=1.6988;MQ=52;MQ0=0;MQRankSum=0.548;QD=10.61;ReadPosRankSum=-0.548;SB=-263.66;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_A3970A,Synonymous_A5683A,Synonymous_A5683A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,22:48:99:539,0,707:52:99:0.458 chr2 152436012 rs62174690 T G 227.17 LowGQ DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=10;MQ0=49;QD=3.49;SB=-123.17;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Silent,Missense_K5515T,Missense_K5515T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:35,30:65:29.96:260,30,0:10:30:0.462 chr2 152490219 rs6709886 A G 3160.16 PASS DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6655;MQ=57;MQ0=0;QD=31.92;SB=-918.99;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Silent,Synonymous_P3121P,Synonymous_P3121P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,99:99:99:3193,235,0:57:99:1.000 chr2 152490458 rs6710212 A G 2226.47 PASS DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4601;MQ=59;MQ0=0;QD=32.74;SB=-591.93;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Silent,Missense_C3042R,Missense_C3042R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,67:68:99:2259,169,0:59:99:1.000 chr2 152496526 rs6713162 A G 1227.24 PASS BaseQRankSum=1.799;DP=105;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8914;MQ=55;MQ0=0;MQRankSum=-0.830;QD=11.69;ReadPosRankSum=0.068;SB=-626.67;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_S2912P,Missense_S2912P,Missense_S2912P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,46:105:99:1257,0,1494:55:99:0.438 chr2 152500449 rs13013209 C G 2376.57 PASS BaseQRankSum=2.077;DP=213;Dels=0.00;FS=0.507;HRun=0;HaplotypeScore=9.2305;MQ=56;MQ0=0;MQRankSum=2.723;QD=11.16;ReadPosRankSum=1.458;SB=-1453.73;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_K2613N,Missense_K2613N,Missense_K2613N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,100:213:99:2407,0,2645:56:99:0.469 chr2 152511778 rs10930723 A C 1047.60 PASS BaseQRankSum=1.822;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8906;MQ=57;MQ0=0;MQRankSum=-0.737;QD=14.55;ReadPosRankSum=-0.200;SB=-696.95;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,42:72:99:1078,0,666:57:99:0.583 chr2 152515683 rs75807392 G A 853.90 PASS BaseQRankSum=1.267;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7878;MQ=57;MQ0=0;MQRankSum=0.860;QD=13.14;ReadPosRankSum=-1.622;SB=-272.25;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_H1991Y,Missense_H1991Y,Missense_H1991Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,34:65:99:884,0,888:57:99:0.523 chr2 152521096 rs10170273 C T 1796.07 PASS BaseQRankSum=0.154;DP=129;Dels=0.00;FS=4.411;HRun=1;HaplotypeScore=8.3508;MQ=55;MQ0=0;MQRankSum=2.546;QD=13.92;ReadPosRankSum=0.749;SB=-830.77;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_E1790E,Synonymous_E1790E,Synonymous_E1790E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,70:129:99:1826,0,1427:55:99:0.543 chr2 152527572 rs7426114 C T 2418.96 PASS BaseQRankSum=1.786;DP=184;Dels=0.00;FS=2.637;HRun=0;HaplotypeScore=5.4153;MQ=50;MQ0=0;MQRankSum=1.071;QD=13.15;ReadPosRankSum=0.882;SB=-1313.68;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_V1491M,Missense_V1491M,Missense_V1491M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,101:184:99:2449,0,1837:50:99:0.549 chr2 152527608 rs34577613 C T 1900.98 PASS BaseQRankSum=3.640;DP=214;Dels=0.00;FS=2.401;HRun=0;HaplotypeScore=7.2310;MQ=51;MQ0=0;MQRankSum=-0.190;QD=8.88;ReadPosRankSum=2.083;SB=-1323.62;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_V1479I,Missense_V1479I,Missense_V1479I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,89:214:99:1931,0,2965:51:99:0.416 chr2 152531077 rs6711382 A G 533.58 PASS BaseQRankSum=-0.377;DP=42;Dels=0.00;FS=6.816;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=0.453;QD=12.70;ReadPosRankSum=-1.937;SB=-190.80;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_Y1301H,Missense_Y1301H,Missense_Y1301H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,21:42:99:564,0,567:54:99:0.500 chr2 152536498 rs6735208 T A 831.49 PASS BaseQRankSum=2.900;DP=80;Dels=0.00;FS=1.909;HRun=1;HaplotypeScore=3.6809;MQ=56;MQ0=0;MQRankSum=1.067;QD=10.39;ReadPosRankSum=-0.601;SB=-523.96;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_K1027N,Missense_K1027N,Missense_K1027N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,35:80:99:861,0,1126:56:99:0.438 chr2 152537351 rs13427102 C T 829.12 PASS BaseQRankSum=2.070;DP=69;Dels=0.00;FS=0.942;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-0.786;QD=12.02;ReadPosRankSum=-0.414;SB=-447.11;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,34:69:99:859,0,951:56:99:0.493 chr2 152573981 rs4611637 A G 789.30 PASS BaseQRankSum=1.073;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7602;MQ=54;MQ0=0;MQRankSum=-0.977;QD=11.28;ReadPosRankSum=0.102;SB=-400.15;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_A257A,Synonymous_A257A,Synonymous_A257A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,28:70:99:819,0,1215:54:99:0.400 chr2 157352734 . CT C 207.47 R8 BaseQRankSum=-1.604;DP=57;FS=1.124;HRun=12;HaplotypeScore=98.5499;MQ=54;MQ0=0;MQRankSum=0.535;QD=3.64;ReadPosRankSum=-1.230;SB=-74.11;TI=NM_001083112,NM_000408;GI=GPD2,GPD2;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,14:57:99:246,0,822:54:99:0.269 chr2 157370018 . G GT 59.64 R8 BaseQRankSum=-0.721;DP=53;FS=2.085;HRun=14;HaplotypeScore=265.8990;MQ=46;MQ0=0;MQRankSum=0.747;QD=1.13;ReadPosRankSum=0.464;SB=-27.85;TI=NM_001083112,NM_000408;GI=GPD2,GPD2;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,10:53:98.67:99,0,604:46:60:0.238 chr2 157406249 rs2116665 G A 2186.73 PASS DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=53;MQ0=0;QD=27.68;SB=-1168.15;TI=NM_001083112,NM_000408;GI=GPD2,GPD2;FC=Missense_R264H,Missense_R264H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2220,157,0:53:99:1.000 chr2 158395079 rs77015367 C G 1298.62 PASS DP=49;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=26.50;SB=-877.69;TI=NM_001111031,NM_145259,NM_001111032,NM_001111033;GI=ACVR1C,ACVR1C,ACVR1C,ACVR1C;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:96.31:1332,96,0:58:96:1.000 chr2 158626980 rs1146031 C T 5748.51 PASS DP=215;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=53;MQ0=0;QD=26.74;SB=-3874.58;TI=NM_001105,NM_001111067;GI=ACVR1,ACVR1;FC=Synonymous_E230E,Synonymous_E230E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,215:215:99:5749,406,0:53:99:1.000 chr2 158636910 rs2227861 G A 2031.05 PASS DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.21;SB=-1034.57;TI=NM_001105,NM_001111067;GI=ACVR1,ACVR1;FC=Synonymous_A90A,Synonymous_A90A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:2064,150,0:54:99:1.000 chr2 163124051 rs1990760 C T 3748.88 PASS DP=124;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=9.0426;MQ=55;MQ0=0;QD=30.23;SB=-1437.77;TI=NM_022168;GI=IFIH1;FC=Missense_A946T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:124:99:3749,274,0:55:99:1.000 chr2 163128824 rs3747517 T C 6775.75 PASS DP=246;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7502;MQ=50;MQ0=0;QD=27.54;SB=-4584.77;TI=NM_022168;GI=IFIH1;FC=Missense_H843R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,246:246:99:6776,485,0:50:99:1.000 chr2 165987772 rs62174900 T G 980.00 PASS BaseQRankSum=-0.520;DP=84;Dels=0.00;FS=1.956;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=2.038;QD=11.67;ReadPosRankSum=1.984;SB=-418.39;TI=NM_001081677,NM_001081676,NM_006922;GI=SCN3A,SCN3A,SCN3A;FC=Synonymous_V800V,Synonymous_V800V,Synonymous_V849V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,36:84:99:1010,0,1311:55:99:0.429 chr2 165996107 rs1946892 T A 905.72 PASS BaseQRankSum=0.599;DP=92;Dels=0.00;FS=2.766;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=1.503;QD=9.84;ReadPosRankSum=-0.432;SB=-530.78;TI=NM_001081677,NM_001081676,NM_006922;GI=SCN3A,SCN3A,SCN3A;FC=Synonymous_T628T,Synonymous_T628T,Synonymous_T677T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,38:92:99:936,0,1323:53:99:0.413 chr2 166152389 rs17183814 G A 1261.26 PASS BaseQRankSum=1.326;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6440;MQ=57;MQ0=0;MQRankSum=1.035;QD=16.60;ReadPosRankSum=-1.326;SB=-296.11;TI=NM_001040142,NM_021007,NM_001040143;GI=SCN2A,SCN2A,SCN2A;FC=Missense_R19K,Missense_R19K,Missense_R19K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,40:76:99:1291,0,1045:57:99:0.526 chr2 166170127 rs2121371 T C 2285.89 PASS DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=27.88;SB=-1183.19;TI=NM_001040142,NM_021007,NM_001040143;GI=SCN2A,SCN2A,SCN2A;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2319,169,0:55:99:1.000 chr2 166788336 rs7592429 T C 3327.40 PASS DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.20;SB=-2402.71;TI=NM_024753;GI=TTC21B;FC=Missense_T276A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:3327,235,0:53:99:1.000 chr2 166797646 rs1432273 C T 2092.95 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=25.22;SB=-1347.64;TI=NM_024753;GI=TTC21B;FC=Missense_V201M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2126,150,0:54:99:1.000 chr2 167060980 . GAAAC G 7211.54 PASS DP=113;FS=0.000;HRun=0;HaplotypeScore=47.7421;MQ=55;MQ0=0;QD=63.82;SB=-2887.70;TI=NM_002977;GI=SCN9A;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,111:113:99:7212,334,0:55:99:0.982 chr2 167099158 rs6746030 A G 1610.32 PASS DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=28.25;SB=-921.92;TI=NM_002977;GI=SCN9A;FC=Missense_W1150R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:57:99:1643,117,0:56:99:1.000 chr2 167144974 rs6747673 A T 1942.38 PASS BaseQRankSum=2.036;DP=181;Dels=0.00;FS=2.635;HRun=0;HaplotypeScore=3.7771;MQ=55;MQ0=0;MQRankSum=3.511;QD=10.73;ReadPosRankSum=2.555;SB=-1107.61;TI=NM_002977;GI=SCN9A;FC=Synonymous_R429R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,77:181:99:1972,0,2466:55:99:0.425 chr2 167144995 rs13402180 T C 2358.10 PASS BaseQRankSum=2.134;DP=180;Dels=0.00;FS=5.330;HRun=0;HaplotypeScore=6.4649;MQ=57;MQ0=0;MQRankSum=1.185;QD=13.10;ReadPosRankSum=-0.581;SB=-1203.74;TI=NM_002977;GI=SCN9A;FC=Synonymous_E422E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,91:180:99:2388,0,2205:57:99:0.506 chr2 167145142 rs13414203 A G 1358.88 PASS BaseQRankSum=0.747;DP=105;Dels=0.00;FS=4.980;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.292;QD=12.94;ReadPosRankSum=0.785;SB=-600.69;TI=NM_002977;GI=SCN9A;FC=Synonymous_A373A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,53:105:99:1389,0,1473:57:99:0.505 chr2 167163043 rs9646771 T C 4150.00 PASS DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.67;SB=-2713.44;TI=NM_002977;GI=SCN9A;FC=Synonymous_P148P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:4150,295,0:52:99:1.000 chr2 167168093 rs6432901 C T 1412.87 PASS DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=26.66;SB=-835.17;TI=NM_002977;GI=SCN9A;FC=Synonymous_Q58Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1446,102,0:57:99:1.000 chr2 169764176 rs492594 G C 2817.81 PASS BaseQRankSum=2.244;DP=236;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0160;MQ=56;MQ0=0;MQRankSum=2.100;QD=11.94;ReadPosRankSum=-0.411;SB=-1879.57;TI=NM_021176,NM_001081686;GI=G6PC2,G6PC2;FC=Missense_V219L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,118:236:99:2848,0,2884:56:99:0.500 chr2 169764546 rs2232328 C G 2400.23 PASS BaseQRankSum=-1.068;DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8568;MQ=57;MQ0=0;MQRankSum=2.480;QD=12.00;ReadPosRankSum=0.749;SB=-670.53;TI=NM_021176,NM_001081686;GI=G6PC2,G6PC2;FC=Missense_S342C,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,92:200:99:2430,0,3011:57:99:0.462 chr2 169789016 rs497692 T C 1434.49 PASS BaseQRankSum=0.661;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5737;MQ=54;MQ0=0;MQRankSum=0.279;QD=10.10;ReadPosRankSum=-0.907;SB=-897.82;TI=NM_003742;GI=ABCB11;FC=Synonymous_A1028A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,63:142:99:1464,0,1875:54:99:0.444 chr2 169997051 rs990626 G A 930.05 PASS BaseQRankSum=1.476;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7041;MQ=57;MQ0=0;MQRankSum=1.982;QD=13.68;ReadPosRankSum=-0.970;SB=-453.61;TI=NM_004525;GI=LRP2;FC=Synonymous_I4371I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,38:68:99:960,0,745:57:99:0.559 chr2 170003432 rs4667591 T G 2014.22 PASS DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5405;MQ=60;MQ0=0;QD=27.22;SB=-1077.23;TI=NM_004525;GI=LRP2;FC=Missense_I4210L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:74:99:2047,147,0:60:99:1.000 chr2 170010985 rs2075252 T C 1579.11 PASS DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=32.23;SB=-561.96;TI=NM_004525;GI=LRP2;FC=Missense_K4094E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1612,117,0:54:99:1.000 chr2 170029657 rs34355135 C T 965.26 PASS BaseQRankSum=1.013;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=51;MQ0=0;MQRankSum=0.696;QD=9.02;ReadPosRankSum=-0.143;SB=-447.52;TI=NM_004525;GI=LRP2;FC=Missense_V3698M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,43:107:99:995,0,1732:51:99:0.402 chr2 170032989 rs2229265 C T 2363.04 PASS BaseQRankSum=-0.577;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9967;MQ=53;MQ0=0;MQRankSum=-0.577;QD=26.26;ReadPosRankSum=0.500;SB=-1317.35;TI=NM_004525;GI=LRP2;FC=Synonymous_Q3501Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,89:90:99:2396,137,0:53:99:0.989 chr2 170129528 rs830994 G A 3568.29 PASS DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=53;MQ0=0;QD=27.03;SB=-2578.46;TI=NM_004525;GI=LRP2;FC=Synonymous_V675V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:132:99:3568,256,0:53:99:1.000 chr2 170150671 rs2229266 G A 633.32 PASS BaseQRankSum=0.245;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=55;MQ0=0;MQRankSum=2.420;QD=9.90;ReadPosRankSum=-0.095;SB=-361.78;TI=NM_004525;GI=LRP2;FC=Synonymous_D213D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,27:64:99:663,0,991:55:99:0.422 chr2 170151227 . TAAA T 284.78 LowGQ;R8 BaseQRankSum=-2.073;DP=22;FS=0.000;HRun=23;HaplotypeScore=64.3951;MQ=54;MQ0=0;MQRankSum=-0.888;QD=12.94;ReadPosRankSum=1.086;SB=-63.50;TI=NM_004525;GI=LRP2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:10,7:22:24.34:327,24,0:54:24:0.412 chr2 170218847 rs1559014 C G 1597.09 PASS DP=57;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=28.02;SB=-737.10;TI=NM_004525;GI=LRP2;FC=Synonymous_A21A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:57:99:1630,120,0:54:99:1.000 chr2 170762566 rs10194785 A T 1207.06 PASS BaseQRankSum=-0.096;DP=82;Dels=0.00;FS=0.875;HRun=1;HaplotypeScore=4.8090;MQ=51;MQ0=0;MQRankSum=-0.928;QD=14.72;ReadPosRankSum=1.023;SB=-807.78;TI=NM_172070;GI=UBR3;FC=Synonymous_L557L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,51:82:99:1237,0,678:51:99:0.622 chr2 170917648 rs10203212 A G 1116.95 PASS BaseQRankSum=-0.300;DP=124;Dels=0.00;FS=0.743;HRun=0;HaplotypeScore=1.8939;MQ=54;MQ0=0;MQRankSum=-0.090;QD=9.01;ReadPosRankSum=-1.265;SB=-506.06;TI=NM_172070;GI=UBR3;FC=Synonymous_L1615L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,48:124:99:1147,0,2090:54:99:0.387 chr2 172339178 . AT A 241.59 LowVariantFreq;R8 BaseQRankSum=-2.017;DP=122;FS=1.665;HRun=11;HaplotypeScore=95.1831;MQ=58;MQ0=0;MQRankSum=1.171;QD=1.98;ReadPosRankSum=-0.420;SB=-113.59;TI=NR_028482,NM_001164821,NM_025000;GI=DCAF17,DCAF17,DCAF17;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,21:122:99:281,0,2032:58:99:0.194 chr2 172339465 . G T 1565.68 PASS BaseQRankSum=-0.832;DP=124;Dels=0.00;FS=3.531;HRun=2;HaplotypeScore=9.9623;MQ=57;MQ0=0;MQRankSum=2.244;QD=12.63;ReadPosRankSum=2.335;SB=-744.54;TI=NR_028482,NM_001164821,NM_025000;GI=DCAF17,DCAF17,DCAF17;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,63:124:99:1596,0,1752:57:99:0.512 chr2 172339964 rs888428 C T 7917.01 PASS DP=257;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4984;MQ=57;MQ0=0;QD=30.81;SB=-4933.77;TI=NR_028482,NM_001164821,NM_025000;GI=DCAF17,DCAF17,DCAF17;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,257:257:99:7917,578,0:57:99:1.000 chr2 172340930 . TACTG T 1897.56 PASS BaseQRankSum=-0.858;DP=63;FS=11.506;HRun=0;HaplotypeScore=57.6996;MQ=56;MQ0=0;MQRankSum=-0.353;QD=30.12;ReadPosRankSum=2.128;SB=-880.91;TI=NR_028482,NM_001164821,NM_025000;GI=DCAF17,DCAF17,DCAF17;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,30:63:99:1937,0,1982:56:99:0.476 chr2 172411273 rs10455 G A 517.31 PASS BaseQRankSum=-1.952;DP=59;Dels=0.00;FS=2.482;HRun=1;HaplotypeScore=4.5761;MQ=59;MQ0=0;MQRankSum=0.619;QD=8.77;ReadPosRankSum=-0.415;SB=-259.98;TI=NM_024843,NM_001127383;GI=CYBRD1,CYBRD1;FC=Missense_S266N,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,22:59:99:547,0,1077:59:99:0.373 chr2 172725301 rs1878583 A G 2423.48 PASS BaseQRankSum=0.013;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=48;MQ0=0;MQRankSum=1.513;QD=26.34;ReadPosRankSum=-1.432;SB=-1602.35;TI=NM_003705;GI=SLC25A12;FC=Synonymous_Y33Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,90:92:99:2456,136,0:48:99:0.978 chr2 173292709 rs6744873 A G 266.35 PASS BaseQRankSum=-1.399;DP=31;Dels=0.00;FS=3.452;HRun=1;HaplotypeScore=3.9973;MQ=55;MQ0=0;MQRankSum=-0.142;QD=8.59;ReadPosRankSum=0.182;SB=-87.56;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,12:31:99:296,0,415:55:99:0.387 chr2 173339808 rs11895564 G A 772.34 PASS BaseQRankSum=-0.111;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=57;MQ0=0;MQRankSum=-0.186;QD=8.49;ReadPosRankSum=-0.813;SB=-461.85;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Missense_A380T,Missense_A380T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,33:91:99:802,0,1401:57:99:0.363 chr2 173344474 rs1920979 A G 798.96 PASS BaseQRankSum=2.719;DP=61;Dels=0.00;FS=0.998;HRun=0;HaplotypeScore=1.8939;MQ=58;MQ0=0;MQRankSum=-0.180;QD=13.10;ReadPosRankSum=1.580;SB=-406.42;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,30:61:99:829,0,845:58:99:0.492 chr2 173352103 rs2293649 C T 695.25 PASS BaseQRankSum=-0.080;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8665;MQ=56;MQ0=0;MQRankSum=-0.471;QD=13.12;ReadPosRankSum=-1.610;SB=-304.90;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Synonymous_D694D,Synonymous_D694D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,27:53:99:725,0,727:56:99:0.509 chr2 175436940 rs4972450 G A 3439.17 PASS DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3589;MQ=53;MQ0=0;QD=28.42;SB=-1641.39;TI=NM_003387,NM_001077269;GI=WIPF1,WIPF1;FC=Missense_P198L,Missense_P198L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3439,247,0:53:99:1.000 chr2 175450263 . C G 77.50 SB BaseQRankSum=-5.603;DP=97;Dels=0.00;FS=111.219;HRun=5;HaplotypeScore=66.1405;MQ=47;MQ0=0;MQRankSum=-3.192;QD=0.80;ReadPosRankSum=-0.439;SB=-0.01;TI=NM_003387,NM_001077269;GI=WIPF1,WIPF1;FC=Synonymous_P13P,Synonymous_P13P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,20:97:99:107,0,2284:47:78:0.213 chr2 175450269 . C G 141.49 SB BaseQRankSum=-6.613;DP=114;Dels=0.00;FS=117.428;HRun=5;HaplotypeScore=67.0525;MQ=45;MQ0=0;MQRankSum=-3.440;QD=1.24;ReadPosRankSum=-2.099;SB=-0.01;TI=NM_003387,NM_001077269;GI=WIPF1,WIPF1;FC=Synonymous_P11P,Synonymous_P11P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,30:114:99:171,0,2421:45:99:0.268 chr2 175450272 . C G 191.34 SB BaseQRankSum=-5.174;DP=114;Dels=0.00;FS=148.101;HRun=5;HaplotypeScore=71.3819;MQ=45;MQ0=0;MQRankSum=-3.424;QD=1.68;ReadPosRankSum=-1.320;SB=-0.01;TI=NM_003387,NM_001077269;GI=WIPF1,WIPF1;FC=Synonymous_P10P,Synonymous_P10P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,27:114:99:221,0,2373:45:99:0.245 chr2 175614908 . CAA C 205.62 LowGQ;R8;LowDP DP=9;FS=0.000;HRun=17;HaplotypeScore=29.2704;MQ=56;MQ0=0;QD=22.85;SB=-32.38;TI=NM_000079,NM_001039523;GI=CHRNA1,CHRNA1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,7:9:24.01:248,24,0:56:24:0.875 chr2 175624107 rs34695580 GA G 774.55 R8 BaseQRankSum=-1.417;DP=59;FS=0.000;HRun=9;HaplotypeScore=72.3951;MQ=53;MQ0=0;MQRankSum=-0.875;QD=13.13;ReadPosRankSum=-1.074;SB=-375.19;TI=NM_000079,NM_001039523;GI=CHRNA1,CHRNA1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,30:59:99:814,0,518:53:99:0.517 chr2 175664106 . AAAGT A 1434.44 PASS BaseQRankSum=0.295;DP=44;FS=0.000;HRun=0;HaplotypeScore=16.8688;MQ=58;MQ0=0;MQRankSum=1.756;QD=32.60;ReadPosRankSum=-0.224;SB=-435.82;TI=NM_001025201,NM_001822;GI=CHN1,CHN1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,24:44:99:1473,0,1234:58:99:0.545 chr2 177016728 rs34727427 T C 1513.78 PASS BaseQRankSum=-0.224;DP=146;Dels=0.00;FS=0.626;HRun=3;HaplotypeScore=7.9589;MQ=53;MQ0=0;MQRankSum=0.271;QD=10.37;ReadPosRankSum=0.639;SB=-1095.67;TI=NM_014621;GI=HOXD4;FC=Missense_S123P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,70:146:99:1544,0,1866:53:99:0.483 chr2 178494173 rs3830637 G GGGA 8565.78 PASS DP=161;FS=0.000;HRun=0;HaplotypeScore=111.1771;MQ=56;MQ0=0;QD=53.20;SB=-3990.04;TI=NM_001077196,NM_016953,NM_001077197,NM_001077358;GI=PDE11A,PDE11A,PDE11A,PDE11A;FC=1AA_Insertion,1AA_Insertion,1AA_Insertion,1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:10,151:161:99:8566,458,0:56:99:0.938 chr2 178565913 rs17400325 T C 1556.75 PASS BaseQRankSum=2.557;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=50;MQ0=0;MQRankSum=-1.824;QD=12.36;ReadPosRankSum=-0.212;SB=-922.29;TI=NM_001077196,NM_016953,NM_001077197,NM_001077358;GI=PDE11A,PDE11A,PDE11A,PDE11A;FC=Missense_Y283C,Missense_Y727C,Missense_Y477C,Missense_Y369C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,66:126:99:1587,0,1342:50:99:0.524 chr2 178682603 rs6720891 T C 558.76 PASS BaseQRankSum=-1.029;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7878;MQ=49;MQ0=0;MQRankSum=-4.228;QD=9.01;ReadPosRankSum=-2.651;SB=-267.15;TI=NM_001077196,NM_016953,NM_001077197,NM_001077358;GI=PDE11A,PDE11A,PDE11A,PDE11A;FC=Synonymous_A98A,Synonymous_A542A,Synonymous_A292A,Synonymous_A184A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,22:62:99:589,0,988:49:99:0.361 chr2 178682655 rs3821010 A G 669.79 PASS BaseQRankSum=1.561;DP=76;Dels=0.00;FS=4.743;HRun=0;HaplotypeScore=4.7765;MQ=47;MQ0=0;MQRankSum=-3.154;QD=8.81;ReadPosRankSum=1.615;SB=-266.15;TI=NM_001077196,NM_016953,NM_001077197,NM_001077358;GI=PDE11A,PDE11A,PDE11A,PDE11A;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,29:76:99:700,0,1138:47:99:0.382 chr2 178936373 rs1435573 T G 7579.73 PASS BaseQRankSum=1.704;DP=247;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2256;MQ=55;MQ0=0;MQRankSum=1.718;QD=30.69;ReadPosRankSum=-1.325;SB=-2955.28;TI=NM_016953,NM_001077197;GI=PDE11A,PDE11A;FC=Synonymous_T264T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,246:247:99:7580,563,0:55:99:0.996 chr2 178936614 rs6433711 C T 5152.83 PASS DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9404;MQ=58;MQ0=0;QD=32.21;SB=-1672.84;TI=NM_016953,NM_001077197;GI=PDE11A,PDE11A;FC=Missense_R184Q,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,159:160:99:5153,382,0:58:99:1.000 chr2 178969039 rs75672043 G A 464.81 PASS BaseQRankSum=2.082;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-0.270;QD=8.01;ReadPosRankSum=-1.383;SB=-326.45;TI=NM_001077197;GI=PDE11A;FC=Missense_T51I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,23:58:99:495,0,857:57:99:0.397 chr2 179296821 rs3997876 G A 914.23 PASS BaseQRankSum=0.725;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5460;MQ=56;MQ0=0;MQRankSum=-0.077;QD=9.33;ReadPosRankSum=-0.798;SB=-457.15;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,38:98:99:944,0,1529:56:99:0.388 chr2 179296971 . G A 614.52 PASS BaseQRankSum=0.050;DP=61;Dels=0.00;FS=0.984;HRun=0;HaplotypeScore=1.8924;MQ=51;MQ0=0;MQRankSum=2.748;QD=10.07;ReadPosRankSum=1.681;SB=-448.05;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Synonymous_S240S,Synonymous_S254S,Synonymous_S265S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,30:61:99:645,0,808:51:99:0.492 chr2 179296984 . G A 250.66 PASS BaseQRankSum=-0.031;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8789;MQ=52;MQ0=0;MQRankSum=-4.276;QD=4.64;ReadPosRankSum=-4.609;SB=-113.06;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,12:54:99:281,0,961:52:99:0.222 chr2 179296987 . A T 19.03 LowVariantFreq;SB BaseQRankSum=1.000;DP=44;Dels=0.00;FS=13.557;HRun=1;HaplotypeScore=3.7746;MQ=54;MQ0=0;MQRankSum=-2.960;QD=0.43;ReadPosRankSum=-2.837;SB=-0.01;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,4:44:48.97:49,0,1000:54:19:0.091 chr2 179296988 . T C 33.01 LowVariantFreq;SB BaseQRankSum=0.740;DP=44;Dels=0.00;FS=4.902;HRun=0;HaplotypeScore=3.7746;MQ=54;MQ0=0;MQRankSum=-2.034;QD=0.75;ReadPosRankSum=-2.404;SB=-0.01;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,5:44:63:63,0,965:54:33:0.114 chr2 179300869 . T C 9.79 LowVariantFreq;SB BaseQRankSum=-2.054;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-2.784;QD=0.43;ReadPosRankSum=-2.419;SB=-0.01;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,3:23:39.30:39,0,632:57:10:0.130 chr2 179300871 . C T 38.87 LowVariantFreq BaseQRankSum=-2.261;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-3.150;QD=1.55;ReadPosRankSum=-2.631;SB=-24.43;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,4:25:68.86:69,0,667:57:39:0.160 chr2 179300971 rs62176107;rs78261760 G A 733.31 PASS BaseQRankSum=-0.319;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5759;MQ=51;MQ0=0;MQRankSum=-5.512;QD=6.43;ReadPosRankSum=4.681;SB=-397.68;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Synonymous_L204L,Synonymous_L218L,Synonymous_L229L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,31:114:99:763,0,2087:51:99:0.274 chr2 179300979 rs74769390;rs77419724 A T 802.48 PASS BaseQRankSum=2.164;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.6122;MQ=51;MQ0=0;MQRankSum=-4.586;QD=6.69;ReadPosRankSum=4.231;SB=-447.49;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Missense_I201N,Missense_I215N,Missense_I226N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,34:120:99:832,0,2276:51:99:0.283 chr2 179314963 . A C 4.00 LowGQX;LowVariantFreq;SB BaseQRankSum=2.272;DP=58;Dels=0.00;FS=24.706;HRun=1;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-3.352;QD=0.07;ReadPosRankSum=-2.937;SB=-0.01;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,5:58:31.79:32,0,1642:56:4:0.086 chr2 179314964 . C T 4.00 LowGQX;LowVariantFreq;SB BaseQRankSum=-0.139;DP=58;Dels=0.00;FS=24.706;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-3.408;QD=0.07;ReadPosRankSum=-2.992;SB=-0.01;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,5:58:31.79:32,0,1640:56:4:0.086 chr2 179314965 . A T 3.60 LowGQX;LowVariantFreq;SB BaseQRankSum=0.887;DP=58;Dels=0.00;FS=24.706;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-3.435;QD=0.06;ReadPosRankSum=-3.047;SB=-0.01;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,5:58:31.10:31,0,1631:56:4:0.086 chr2 179315142 . C A 185.06 LowVariantFreq;SB BaseQRankSum=-1.400;DP=75;Dels=0.00;FS=25.055;HRun=5;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-1.415;QD=2.47;ReadPosRankSum=-4.695;SB=-0.01;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Missense_C10F,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,11:75:99:215,0,1726:52:99:0.147 chr2 179315144 . A G 188.78 LowVariantFreq;SB BaseQRankSum=-0.457;DP=75;Dels=0.00;FS=25.055;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-1.999;QD=2.52;ReadPosRankSum=-4.830;SB=-0.01;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Synonymous_F9F,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,11:75:99:219,0,1728:52:99:0.147 chr2 179315145 . A G 133.09 LowVariantFreq;SB BaseQRankSum=0.596;DP=73;Dels=0.00;FS=27.063;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-1.082;QD=1.82;ReadPosRankSum=-4.354;SB=-0.01;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Missense_F9S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,9:73:99:163,0,1721:52:99:0.123 chr2 179315146 . A T 109.32 LowVariantFreq;SB BaseQRankSum=-1.478;DP=72;Dels=0.00;FS=23.931;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-0.296;QD=1.52;ReadPosRankSum=-4.166;SB=-0.01;TI=NR_031666,NM_001139518,NM_001139517,NM_003690;GI=MIR548N,PRKRA,PRKRA,PRKRA;FC=Silent,Silent,Missense_F9I,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,8:72:99:139,0,1727:52:99:0.111 chr2 179315757 rs9406386;rs75383501;rs80004625 T G 759.24 PASS BaseQRankSum=1.536;DP=94;Dels=0.00;FS=7.288;HRun=2;HaplotypeScore=3.6261;MQ=51;MQ0=0;MQRankSum=-3.890;QD=8.08;ReadPosRankSum=-2.318;SB=-382.18;TI=NR_031666,NM_003690;GI=MIR548N,PRKRA;FC=Silent,Missense_M1L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,32:94:99:789,0,1600:51:99:0.340 chr2 179395874 rs55806007 C T 3340.57 PASS BaseQRankSum=2.899;DP=241;Dels=0.00;FS=3.635;HRun=0;HaplotypeScore=8.3631;MQ=55;MQ0=0;MQRankSum=0.448;QD=13.86;ReadPosRankSum=-2.866;SB=-1608.86;TI=NR_031666,NM_133378,NM_133432,NM_133437,NM_003319;GI=MIR548N,TTN,TTN,TTN,TTN;FC=Silent,Synonymous_P32588P,Synonymous_P26216P,Synonymous_P26283P,Synonymous_P26091P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,123:241:99:3341,0,3178:55:99:0.510 chr2 179424558 rs56310931 C T 1699.44 PASS BaseQRankSum=-0.213;DP=143;Dels=0.00;FS=0.699;HRun=2;HaplotypeScore=10.9170;MQ=57;MQ0=0;MQRankSum=0.371;QD=11.88;ReadPosRankSum=0.237;SB=-585.02;TI=NR_031666,NM_133378,NM_133432,NM_133437,NM_003319;GI=MIR548N,TTN,TTN,TTN,TTN;FC=Silent,Synonymous_K26199K,Synonymous_K19827K,Synonymous_K19894K,Synonymous_K19702K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,65:143:99:1729,0,2127:57:99:0.455 chr2 179432185 rs12463674 A G 2011.68 PASS BaseQRankSum=-0.103;DP=139;Dels=0.00;FS=0.634;HRun=0;HaplotypeScore=8.5917;MQ=57;MQ0=0;MQRankSum=0.246;QD=14.47;ReadPosRankSum=-2.454;SB=-957.67;TI=NR_031666,NM_133378,NM_133432,NM_133437,NM_003319;GI=MIR548N,TTN,TTN,TTN,TTN;FC=Silent,Missense_I23657T,Missense_I17285T,Missense_I17352T,Missense_I17160T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,71:139:99:2042,0,1936:57:99:0.511 chr2 179440029 rs12464787 G A 2173.77 PASS BaseQRankSum=-0.625;DP=179;Dels=0.00;FS=0.573;HRun=0;HaplotypeScore=16.7938;MQ=57;MQ0=0;MQRankSum=-0.338;QD=12.14;ReadPosRankSum=-2.595;SB=-969.35;TI=NR_031666,NM_133378,NM_133432,NM_133437,NM_003319;GI=MIR548N,TTN,TTN,TTN,TTN;FC=Silent,Synonymous_S21042S,Synonymous_S14670S,Synonymous_S14737S,Synonymous_S14545S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,80:179:99:2204,0,2860:57:99:0.447 chr2 179444768 rs4145333 C G 3424.33 PASS DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=28.07;SB=-2315.88;TI=NR_031666,NM_133378,NM_133432,NM_133437,NM_003319;GI=MIR548N,TTN,TTN,TTN,TTN;FC=Silent,Missense_A19848P,Missense_A13476P,Missense_A13543P,Missense_A13351P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3424,244,0:56:99:1.000 chr2 179462494 rs35833641 A G 4478.31 PASS BaseQRankSum=0.524;DP=298;Dels=0.00;FS=0.900;HRun=0;HaplotypeScore=11.8884;MQ=56;MQ0=0;MQRankSum=2.334;QD=15.03;ReadPosRankSum=-0.936;SB=-2273.31;TI=NR_031666,NM_133378,NM_133432,NM_133437,NM_003319;GI=MIR548N,TTN,TTN,TTN,TTN;FC=Silent,Synonymous_H16537H,Synonymous_H10165H,Synonymous_H10232H,Synonymous_H10040H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:131,167:298:99:4478,0,3500:56:99:0.560 chr2 179464527 rs1001238 T C 746.91 PASS BaseQRankSum=0.783;DP=49;Dels=0.00;FS=1.131;HRun=0;HaplotypeScore=3.5489;MQ=59;MQ0=0;MQRankSum=0.153;QD=15.24;ReadPosRankSum=2.594;SB=-465.13;TI=NR_031666,NM_133378,NM_133432,NM_133437,NM_003319;GI=MIR548N,TTN,TTN,TTN,TTN;FC=Silent,Missense_N16133D,Missense_N9761D,Missense_N9828D,Missense_N9636D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,29:49:99:777,0,636:59:99:0.592 chr2 179498042 rs6723526 T C 549.75 PASS BaseQRankSum=0.492;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6546;MQ=58;MQ0=0;MQRankSum=-0.455;QD=16.66;ReadPosRankSum=-1.184;SB=-235.78;TI=NR_031666,NM_133378,NM_133432,NM_133437,NM_003319;GI=MIR548N,TTN,TTN,TTN,TTN;FC=Silent,Missense_K11752E,Missense_K5380E,Missense_K5447E,Missense_K5255E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,19:33:99:580,0,460:58:99:0.576 chr2 179545859 rs36051007 C T 1957.12 PASS BaseQRankSum=1.649;DP=151;Dels=0.00;FS=4.809;HRun=0;HaplotypeScore=3.5764;MQ=57;MQ0=0;MQRankSum=-0.453;QD=12.96;ReadPosRankSum=0.494;SB=-1171.75;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Missense_R9852H,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,79:151:99:1987,0,1813:57:99:0.523 chr2 179553781 . T C 3.46 LowGQX;LowVariantFreq;SB BaseQRankSum=-2.623;DP=55;Dels=0.00;FS=13.973;HRun=2;HaplotypeScore=20.8624;MQ=45;MQ0=0;MQRankSum=-1.277;QD=0.06;ReadPosRankSum=-0.487;SB=-0.01;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Synonymous_R9454R,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,9:55:30.86:31,0,951:45:3:0.167 chr2 179553787 . A G 5.87 LowGQX;SB BaseQRankSum=-3.460;DP=54;Dels=0.00;FS=28.163;HRun=4;HaplotypeScore=24.9212;MQ=46;MQ0=0;MQRankSum=-1.396;QD=0.11;ReadPosRankSum=-0.364;SB=-0.01;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Synonymous_P9452P,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,13:54:34.56:35,0,1075:46:6:0.241 chr2 179554305 rs2244492 C T 827.44 PASS BaseQRankSum=0.831;DP=49;Dels=0.00;FS=1.153;HRun=0;HaplotypeScore=0.8941;MQ=60;MQ0=0;MQRankSum=0.831;QD=16.89;ReadPosRankSum=-1.262;SB=-473.92;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Missense_G9378R,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,30:49:99:857,0,508:60:99:0.612 chr2 179558366 rs2042995 T C 816.79 PASS BaseQRankSum=1.378;DP=84;Dels=0.00;FS=1.817;HRun=0;HaplotypeScore=4.9938;MQ=53;MQ0=0;MQRankSum=0.393;QD=9.72;ReadPosRankSum=-0.926;SB=-532.61;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Missense_I9278V,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,36:84:99:847,0,1125:53:99:0.429 chr2 179578730 rs2562839 G A 4176.60 PASS BaseQRankSum=1.337;DP=368;Dels=0.00;FS=0.379;HRun=0;HaplotypeScore=8.2571;MQ=50;MQ0=0;MQRankSum=0.397;QD=11.35;ReadPosRankSum=-0.517;SB=-2980.10;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Synonymous_S7641S,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:183,185:368:99:4177,0,4024:50:99:0.503 chr2 179579093 rs12693164 T C 2736.97 PASS BaseQRankSum=2.267;DP=171;Dels=0.00;FS=0.586;HRun=0;HaplotypeScore=7.3233;MQ=56;MQ0=0;MQRankSum=1.278;QD=16.01;ReadPosRankSum=-1.364;SB=-1493.07;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Missense_N7559S,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,106:171:99:2767,0,1676:56:99:0.620 chr2 179579212 rs2562838 T C 2541.71 PASS BaseQRankSum=0.740;DP=171;Dels=0.00;FS=2.880;HRun=0;HaplotypeScore=6.2586;MQ=53;MQ0=0;MQRankSum=1.074;QD=14.86;ReadPosRankSum=-0.314;SB=-1251.33;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Synonymous_E7519E,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,98:171:99:2572,0,1977:53:99:0.576 chr2 179579822 rs2562836 T A 3830.18 PASS BaseQRankSum=0.800;DP=307;Dels=0.00;FS=10.742;HRun=1;HaplotypeScore=7.1253;MQ=55;MQ0=0;MQRankSum=-0.853;QD=12.48;ReadPosRankSum=1.232;SB=-1995.68;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Synonymous_L7453L,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:160,147:307:99:3830,0,3849:55:99:0.479 chr2 179583496 rs16866465 T G 1748.68 PASS BaseQRankSum=2.023;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7123;MQ=54;MQ0=0;MQRankSum=2.001;QD=11.43;ReadPosRankSum=-0.892;SB=-1042.97;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Missense_E6900A,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,70:153:99:1779,0,1968:54:99:0.458 chr2 179585266 rs2562831 C T 3778.53 PASS DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.97;SB=-2124.95;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Synonymous_Q6497Q,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3779,274,0:57:99:1.000 chr2 179585393 rs2562830 A G 676.71 PASS BaseQRankSum=1.162;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=0.724;QD=19.33;ReadPosRankSum=-0.118;SB=-40.01;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,21:35:99:707,0,451:59:99:0.600 chr2 179587130 rs12693166 C G 1488.39 PASS BaseQRankSum=-0.321;DP=127;Dels=0.00;FS=0.652;HRun=1;HaplotypeScore=5.5745;MQ=53;MQ0=0;MQRankSum=0.673;QD=11.72;ReadPosRankSum=2.452;SB=-984.48;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Missense_D6218H,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,63:127:99:1518,0,1508:53:99:0.496 chr2 179598228 rs12993099 A G 362.49 PASS BaseQRankSum=0.354;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60;MQ0=0;MQRankSum=-0.602;QD=10.66;ReadPosRankSum=-0.213;SB=-162.15;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Synonymous_I4020I,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,13:34:99:392,0,661:60:99:0.382 chr2 179600563 rs2742348 G A 4465.36 PASS DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=30.38;SB=-2435.78;TI=NM_133378,NM_133432,NM_133437,NM_003319;GI=TTN,TTN,TTN,TTN;FC=Synonymous_S3626S,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:147:99:4465,325,0:57:99:1.000 chr2 179614952 rs10803917 A G 6833.99 PASS DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2584;MQ=57;MQ0=0;QD=32.70;SB=-3323.40;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Silent,Silent,Silent,Silent,Synonymous_L4059L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,208:209:99:6834,506,0:57:99:1.000 chr2 179615887 rs922984 T C 4885.27 PASS DP=150;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.6899;MQ=55;MQ0=0;QD=32.57;SB=-2516.20;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Silent,Silent,Silent,Silent,Missense_D3747G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:4885,361,0:55:99:1.000 chr2 179615931 rs922985 C G 4463.63 PASS DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=57;MQ0=0;QD=31.00;SB=-2377.66;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Silent,Silent,Silent,Silent,Missense_L3732F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,144:144:99:4464,322,0:57:99:1.000 chr2 179615994 rs922986 T C 4280.60 PASS DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=33.44;SB=-2371.88;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Silent,Silent,Silent,Silent,Synonymous_T3711T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:128:99:4281,316,0:57:99:1.000 chr2 179620951 rs7585334 C T 591.21 SB;LowDP DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=36.95;SB=-0.01;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Silent,Silent,Missense_G3580D,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,16:16:48.15:624,48,0:57:48:1.000 chr2 179621477 rs6433728 C T 3832.04 PASS DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=30.17;SB=-1673.84;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Silent,Silent,Missense_A3405T,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:3832,277,0:55:99:1.000 chr2 179623758 rs2291310 C T 4974.90 PASS DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8835;MQ=58;MQ0=0;QD=31.89;SB=-2265.29;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Missense_S3419N,Missense_S3373N,Missense_S3373N,Missense_S3373N,Missense_S3419N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,156:156:99:4975,367,0:58:99:1.000 chr2 179629363 rs4894043 T C 4336.35 PASS DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;QD=26.93;SB=-2928.68;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Synonymous_E3293E,Synonymous_E3247E,Synonymous_E3247E,Synonymous_E3247E,Synonymous_E3293E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,161:161:99:4336,310,0:50:99:1.000 chr2 179629461 rs2291311 C T 2165.83 PASS DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6717;MQ=56;MQ0=0;QD=27.42;SB=-1373.25;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Missense_V3261M,Missense_V3215M,Missense_V3215M,Missense_V3215M,Missense_V3261M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2199,159,0:56:99:1.000 chr2 179642425 rs719201 G A 903.46 PASS DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=37.64;SB=-433.89;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:72.23:936,72,0:60:72:1.000 chr2 179644035 rs1552280 G A 1872.90 PASS DP=67;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=27.95;SB=-1268.98;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Missense_S1295L,Missense_S1249L,Missense_S1249L,Missense_S1249L,Missense_S1295L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,67:67:99:1906,135,0:56:99:1.000 chr2 179644855 rs10497520 T C 3745.61 PASS DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=26.56;SB=-2568.80;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Missense_K1201E,Missense_K1155E,Missense_K1155E,Missense_K1155E,Missense_K1201E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,141:141:99:3746,265,0:54:99:1.000 chr2 179650701 rs6715406 C T 4474.61 PASS DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=27.28;SB=-3216.85;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Synonymous_E748E,Synonymous_E702E,Synonymous_E702E,Synonymous_E702E,Synonymous_E748E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,164:164:99:4475,316,0:54:99:1.000 chr2 179664264 . G A 968.68 PASS BaseQRankSum=1.727;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5352;MQ=58;MQ0=0;MQRankSum=-2.204;QD=15.62;ReadPosRankSum=1.163;SB=-489.25;TI=NM_133378,NM_133432,NM_133437,NM_003319,NM_133379;GI=TTN,TTN,TTN,TTN,TTN;FC=Synonymous_H288H,Synonymous_H288H,Synonymous_H288H,Synonymous_H288H,Synonymous_H288H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,38:62:99:999,0,524:58:99:0.613 chr2 180308028 rs2367796 C T 653.70 PASS BaseQRankSum=-0.365;DP=78;Dels=0.00;FS=0.878;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=-0.535;QD=8.38;ReadPosRankSum=-0.111;SB=-420.92;TI=NM_001113398,NM_001113397,NM_152520;GI=ZNF385B,ZNF385B,ZNF385B;FC=Synonymous_G353G,Synonymous_G379G,Synonymous_G455G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,28:78:99:684,0,1227:55:99:0.364 chr2 182374534 rs1143674 A G 903.77 PASS BaseQRankSum=0.559;DP=93;Dels=0.00;FS=5.446;HRun=1;HaplotypeScore=0.9998;MQ=56;MQ0=0;MQRankSum=1.114;QD=9.72;ReadPosRankSum=-1.841;SB=-407.82;TI=NM_000885;GI=ITGA4;FC=Synonymous_T615T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,38:93:99:934,0,1368:56:99:0.409 chr2 182395345 rs1143676 G A 1050.12 PASS BaseQRankSum=0.169;DP=96;Dels=0.00;FS=0.767;HRun=0;HaplotypeScore=7.3307;MQ=52;MQ0=0;MQRankSum=2.579;QD=10.94;ReadPosRankSum=1.621;SB=-579.30;TI=NM_000885;GI=ITGA4;FC=Missense_R878Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,43:96:99:1080,0,1310:52:99:0.448 chr2 182399097 rs7562325 T C 805.32 PASS BaseQRankSum=0.763;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.193;QD=13.42;ReadPosRankSum=1.045;SB=-478.02;TI=NM_000885;GI=ITGA4;FC=Synonymous_H961H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,32:60:99:835,0,601:55:99:0.533 chr2 182399638 rs2124443 A G 5844.48 PASS DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1521;MQ=53;MQ0=0;QD=31.42;SB=-3325.92;TI=NM_000885;GI=ITGA4;FC=Synonymous_L993L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,186:186:99:5844,430,0:53:99:1.000 chr2 182401566 rs2368214 C T 1012.00 SB DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=37.48;SB=-0.01;TI=NM_000885,NM_001030313,NM_201548,NR_027689,NM_001160277,NR_027690,NM_001030311,NM_001030312;GI=ITGA4,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,27:27:81.25:1045,81,0:60:81:1.000 chr2 182401587 rs11553355 C T 487.67 PASS BaseQRankSum=2.399;DP=49;Dels=0.00;FS=7.706;HRun=0;HaplotypeScore=1.8640;MQ=59;MQ0=0;MQRankSum=0.458;QD=9.95;ReadPosRankSum=1.418;SB=-42.19;TI=NM_000885,NM_001030313,NM_201548,NR_027689,NM_001160277,NR_027690,NM_001030311,NM_001030312;GI=ITGA4,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,16:49:99:518,0,832:59:99:0.327 chr2 182401752 rs1047307 G A 902.59 PASS BaseQRankSum=1.411;DP=67;Dels=0.00;FS=2.047;HRun=1;HaplotypeScore=3.7869;MQ=59;MQ0=0;MQRankSum=-0.120;QD=13.47;ReadPosRankSum=0.715;SB=-355.02;TI=NM_000885,NM_001030313,NM_201548,NR_027689,NM_001160277,NR_027690,NM_001030311,NM_001030312;GI=ITGA4,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,29:67:99:933,0,1005:59:99:0.433 chr2 182402031 rs1037623 C T 9155.29 PASS DP=300;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.3680;MQ=55;MQ0=0;QD=30.52;SB=-5307.70;TI=NM_000885,NM_001030313,NM_201548,NR_027689,NM_001160277,NR_027690,NM_001030311,NM_001030312;GI=ITGA4,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,299:300:99:9155,668,0:55:99:1.000 chr2 182402790 rs6747500 G A 1023.83 PASS BaseQRankSum=0.415;DP=77;Dels=0.00;FS=5.206;HRun=0;HaplotypeScore=2.7876;MQ=58;MQ0=0;MQRankSum=0.456;QD=13.30;ReadPosRankSum=-2.149;SB=-375.26;TI=NM_001030313,NM_201548,NR_027689,NM_001160277,NR_027690,NM_001030311,NM_001030312;GI=CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,34:77:99:1054,0,1397:58:99:0.442 chr2 182403851 rs10180793 G A 2638.57 PASS DP=105;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.2577;MQ=50;MQ0=0;QD=25.13;SB=-1882.17;TI=NM_001030313,NM_201548,NR_027689,NM_001160277,NR_027690,NM_001030311,NM_001030312;GI=CERKL,CERKL,CERKL,CERKL,CERKL,CERKL,CERKL;FC=Synonymous_D433D,Synonymous_D502D,Silent,Synonymous_D484D,Silent,Synonymous_D528D,Synonymous_D389D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:2672,187,0:50:99:1.000 chr2 183699584 rs7775 G C 1202.20 PASS BaseQRankSum=1.194;DP=110;Dels=0.00;FS=0.709;HRun=1;HaplotypeScore=6.6372;MQ=51;MQ0=0;MQRankSum=-1.362;QD=10.93;ReadPosRankSum=-0.380;SB=-956.81;TI=NM_001463;GI=FRZB;FC=Missense_R324G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,58:110:99:1232,0,1195:51:99:0.527 chr2 183703336 rs288326 G A 1385.44 PASS BaseQRankSum=-0.236;DP=112;Dels=0.00;FS=2.431;HRun=2;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=1.144;QD=12.37;ReadPosRankSum=-0.556;SB=-973.10;TI=NM_001463;GI=FRZB;FC=Missense_R200W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,58:112:99:1415,0,1359:54:99:0.518 chr2 183799558 rs9288088 G C 1402.04 PASS DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=29.83;SB=-892.10;TI=NM_013436,NM_205842;GI=NCKAP1,NCKAP1;FC=Synonymous_V927V,Synonymous_V933V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:99:1435,105,0:50:99:1.000 chr2 185800905 rs12476147 A T 2396.04 PASS BaseQRankSum=1.819;DP=170;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=7.5639;MQ=58;MQ0=0;MQRankSum=-1.584;QD=14.09;ReadPosRankSum=0.155;SB=-1437.77;TI=NM_194250;GI=ZNF804A;FC=Missense_Q261L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,94:170:99:2426,0,2106:58:99:0.553 chr2 185801747 rs4667001 G A 1301.63 PASS BaseQRankSum=1.774;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.715;QD=11.52;ReadPosRankSum=1.476;SB=-645.18;TI=NM_194250;GI=ZNF804A;FC=Missense_E542K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,46:113:99:1332,0,1750:55:99:0.407 chr2 185801755 rs4667002 A G 3542.63 PASS DP=113;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=31.35;SB=-1942.58;TI=NM_194250;GI=ZNF804A;FC=Synonymous_T544T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3543,259,0:55:99:1.000 chr2 185801917 rs728534 A G 1101.46 PASS BaseQRankSum=-0.424;DP=74;Dels=0.00;FS=6.072;HRun=0;HaplotypeScore=13.0397;MQ=58;MQ0=0;MQRankSum=1.109;QD=14.88;ReadPosRankSum=1.142;SB=-528.99;TI=NM_194250;GI=ZNF804A;FC=Synonymous_K598K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,41:74:99:1131,0,949:58:99:0.554 chr2 185802211 rs5836928 C CACA 2670.46 PASS BaseQRankSum=6.945;DP=124;FS=2.435;HRun=0;HaplotypeScore=222.7699;MQ=56;MQ0=0;MQRankSum=3.121;QD=21.54;ReadPosRankSum=0.465;SB=-861.19;TI=NM_194250;GI=ZNF804A;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,52:124:99:2709,0,3729:56:99:0.419 chr2 185802243 rs1366842 C A 1816.34 PASS BaseQRankSum=1.069;DP=148;Dels=0.00;FS=0.612;HRun=2;HaplotypeScore=3.7866;MQ=56;MQ0=0;MQRankSum=2.452;QD=12.27;ReadPosRankSum=-0.976;SB=-1101.01;TI=NM_194250;GI=ZNF804A;FC=Missense_T707K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,69:148:99:1846,0,1887:56:99:0.466 chr2 185802363 rs12477430 A G 2114.56 PASS BaseQRankSum=0.810;DP=150;Dels=0.00;FS=2.893;HRun=0;HaplotypeScore=3.6812;MQ=55;MQ0=0;MQRankSum=0.667;QD=14.10;ReadPosRankSum=-1.780;SB=-1191.01;TI=NM_194250;GI=ZNF804A;FC=Missense_H747R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,74:150:99:2145,0,2122:55:99:0.493 chr2 185803445 . G A 3036.81 PASS BaseQRankSum=-0.281;DP=231;Dels=0.00;FS=13.209;HRun=0;HaplotypeScore=9.4000;MQ=55;MQ0=0;MQRankSum=1.151;QD=13.15;ReadPosRankSum=0.737;SB=-1409.37;TI=NM_194250;GI=ZNF804A;FC=Missense_A1108T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,115:231:99:3067,0,2918:55:99:0.498 chr2 189862097 rs7579903 G A 1850.60 PASS BaseQRankSum=0.248;DP=112;Dels=0.00;FS=1.752;HRun=1;HaplotypeScore=0.9998;MQ=56;MQ0=0;MQRankSum=1.386;QD=16.52;ReadPosRankSum=1.138;SB=-546.43;TI=NM_000090;GI=COL3A1;FC=Synonymous_Q617Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,65:112:99:1881,0,1331:56:99:0.580 chr2 189863389 rs13306272 C T 1343.96 PASS BaseQRankSum=1.426;DP=115;Dels=0.00;FS=12.223;HRun=0;HaplotypeScore=6.4644;MQ=53;MQ0=0;MQRankSum=3.169;QD=11.69;ReadPosRankSum=1.292;SB=-664.16;TI=NM_000090;GI=COL3A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,54:115:99:1374,0,1505:53:99:0.470 chr2 189864080 rs1800255 G A 768.88 PASS BaseQRankSum=-1.259;DP=48;Dels=0.00;FS=1.258;HRun=1;HaplotypeScore=3.7748;MQ=58;MQ0=0;MQRankSum=-0.165;QD=16.02;ReadPosRankSum=0.000;SB=-177.15;TI=NM_000090;GI=COL3A1;FC=Missense_A698T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,25:48:99:799,0,707:58:99:0.521 chr2 189864582 rs1801184 T C 1954.86 PASS BaseQRankSum=1.909;DP=172;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.6543;MQ=55;MQ0=0;MQRankSum=3.655;QD=11.37;ReadPosRankSum=-0.268;SB=-1264.66;TI=NM_000090;GI=COL3A1;FC=Synonymous_G748G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,86:172:99:1985,0,2023:55:99:0.500 chr2 189875421 rs1516446 T G 8970.16 PASS DP=317;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2777;MQ=55;MQ0=0;QD=28.30;SB=-4983.66;TI=NM_000090;GI=COL3A1;FC=Missense_H1353Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,317:317:99:8970,650,0:55:99:1.000 chr2 189904203 rs10208525 A G 2699.80 PASS BaseQRankSum=1.727;DP=261;Dels=0.00;FS=0.462;HRun=0;HaplotypeScore=7.5748;MQ=53;MQ0=0;MQRankSum=3.284;QD=10.34;ReadPosRankSum=0.100;SB=-1562.38;TI=NM_000393;GI=COL5A2;FC=Synonymous_Y1240Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:147,114:261:99:2730,0,3538:53:99:0.437 chr2 189904233 rs10197596 T G 1824.05 PASS BaseQRankSum=3.595;DP=162;Dels=0.00;FS=3.037;HRun=1;HaplotypeScore=7.9371;MQ=55;MQ0=0;MQRankSum=0.015;QD=11.26;ReadPosRankSum=1.836;SB=-651.50;TI=NM_000393;GI=COL5A2;FC=Synonymous_T1230T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,69:162:99:1854,0,2408:55:99:0.429 chr2 189907937 rs6434312 A G 2365.23 PASS DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7260;MQ=50;MQ0=0;QD=26.88;SB=-1658.83;TI=NM_000393;GI=COL5A2;FC=Synonymous_G1137G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2398,172,0:50:99:1.000 chr2 189923630 . ATT A,AT 1423.62 R8 BaseQRankSum=-3.254;DP=70;FS=1.647;HaplotypeScore=80.0893;MQ=53;MQ0=0;MQRankSum=-0.703;QD=20.34;ReadPosRankSum=-1.114;SB=-570.23;TI=NM_000393;GI=COL5A2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:6,10,1:70:91.51:1502,1155,1313,148,0,92:53:92:0.647 chr2 189932831 rs2229495 T C 2544.52 PASS DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=58;MQ0=0;QD=30.66;SB=-1406.57;TI=NM_000393;GI=COL5A2;FC=Synonymous_P437P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2578,190,0:58:99:1.000 chr2 189953508 rs58106884 C T 1020.48 PASS BaseQRankSum=1.990;DP=84;Dels=0.00;FS=1.861;HRun=0;HaplotypeScore=2.7605;MQ=55;MQ0=0;MQRankSum=0.872;QD=12.15;ReadPosRankSum=-1.964;SB=-591.92;TI=NM_000393;GI=COL5A2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,42:84:99:1050,0,1100:55:99:0.500 chr2 189974958 rs4128539 G T 678.21 PASS DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=29.49;SB=-315.10;TI=NM_000393;GI=COL5A2;FC=Synonymous_T105T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,23:23:51.17:711,51,0:60:51:1.000 chr2 190445194 rs11568351 G C 1816.32 PASS DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=55;MQ0=0;QD=30.79;SB=-879.46;TI=NM_014585;GI=SLC40A1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1849,135,0:55:99:1.000 chr2 191161622 rs1058180 T C 1454.22 PASS BaseQRankSum=-1.307;DP=113;Dels=0.00;FS=4.612;HRun=0;HaplotypeScore=5.9610;MQ=51;MQ0=0;MQRankSum=2.335;QD=12.87;ReadPosRankSum=1.261;SB=-871.92;TI=NM_198047,NM_014362;GI=HIBCH,HIBCH;FC=Missense_T46A,Missense_T46A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,55:113:99:1484,0,1438:51:99:0.487 chr2 191184475 rs291466 A G 1535.52 PASS BaseQRankSum=1.520;DP=138;Dels=0.00;FS=2.139;HRun=0;HaplotypeScore=7.9289;MQ=53;MQ0=0;MQRankSum=-2.491;QD=11.13;ReadPosRankSum=1.465;SB=-1127.02;TI=NM_198047,NM_014362;GI=HIBCH,HIBCH;FC=Missense_M1T,Missense_M1T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,69:138:99:1566,0,1546:53:99:0.500 chr2 191874667 rs2066802 A G 1040.29 PASS BaseQRankSum=0.574;DP=117;Dels=0.00;FS=0.709;HRun=0;HaplotypeScore=2.9917;MQ=52;MQ0=0;MQRankSum=2.069;QD=8.89;ReadPosRankSum=-1.014;SB=-691.87;TI=NM_007315,NM_139266;GI=STAT1,STAT1;FC=Synonymous_L21L,Synonymous_L21L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,51:117:99:1070,0,1550:52:99:0.436 chr2 198362018 rs8539 T C 3590.62 PASS DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.80;SB=-2526.36;TI=NM_002156,NM_199440;GI=HSPD1,HSPD1;FC=Synonymous_K91K,Synonymous_K91K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:3591,253,0:53:99:1.000 chr2 198363501 rs78187001 C T 123.51 PASS BaseQRankSum=-1.987;DP=52;Dels=0.00;FS=1.332;HRun=0;HaplotypeScore=5.3988;MQ=48;MQ0=0;MQRankSum=-3.768;QD=2.38;ReadPosRankSum=0.662;SB=-127.06;TI=NM_002156,NM_199440;GI=HSPD1,HSPD1;FC=Synonymous_R24R,Synonymous_R24R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,12:52:99:154,0,1075:48:99:0.231 chr2 200173684 rs10153730 T G 2145.04 PASS BaseQRankSum=1.684;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4156;MQ=56;MQ0=0;MQRankSum=-0.096;QD=29.79;ReadPosRankSum=-1.732;SB=-908.01;TI=NM_001172509,NM_001172517,NM_015265;GI=SATB2,SATB2,SATB2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,71:72:99:2178,160,0:56:99:0.986 chr2 202006096 rs10190751 G A 1652.26 PASS BaseQRankSum=-0.636;DP=105;Dels=0.00;FS=3.995;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=0.126;QD=15.74;ReadPosRankSum=-1.812;SB=-956.97;TI=NM_001127184,NM_003879,NM_001127183;GI=CFLAR,CFLAR,CFLAR;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,70:105:99:1682,0,933:55:99:0.667 chr2 202025621 rs1594 A G 14.92 LowGQX;LowGQ;LowDP DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=7.46;SB=-40.65;TI=NM_003879,NM_001127183;GI=CFLAR,CFLAR;FC=Synonymous_P420P,Synonymous_P420P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,2:2:3.01:45,3,0:60:3:1.000 chr2 202050677 rs3900115 A G 3535.51 PASS BaseQRankSum=-0.135;DP=254;Dels=0.00;FS=2.822;HRun=1;HaplotypeScore=12.0478;MQ=52;MQ0=0;MQRankSum=0.968;QD=13.92;ReadPosRankSum=1.376;SB=-2079.26;TI=NM_001230,NM_032977,NM_032974;GI=CASP10,CASP10,CASP10;FC=Synonymous_S59S,Synonymous_S59S,Synonymous_S59S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,140:254:99:3536,0,2781:52:99:0.551 chr2 202082459 rs13006529 T A 601.02 PASS BaseQRankSum=1.847;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.7486;MQ=57;MQ0=0;MQRankSum=2.076;QD=9.69;ReadPosRankSum=-0.464;SB=-366.94;TI=NM_001230,NM_032977,NM_032974;GI=CASP10,CASP10,CASP10;FC=Missense_L479I,Missense_L522I,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,26:62:99:631,0,908:57:99:0.419 chr2 202122995 rs3769823 A G 871.34 PASS BaseQRankSum=2.068;DP=74;Dels=0.00;FS=3.247;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=0.206;QD=11.77;ReadPosRankSum=0.498;SB=-388.22;TI=NM_033358,NM_001080124,NM_033355,NM_001228,NM_001080125;GI=CASP8,CASP8,CASP8,CASP8,CASP8;FC=Silent,Silent,Silent,Silent,Missense_K14R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,35:74:99:901,0,903:51:99:0.473 chr2 202245944 . TAA T 848.16 R8 DP=22;FS=0.000;HRun=17;HaplotypeScore=121.1744;MQ=56;MQ0=0;QD=38.55;SB=-242.25;TI=NM_015049;GI=TRAK2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,22:22:66.22:890,66,0:56:66:1.000 chr2 202260049 rs2256584 G A 2290.23 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.27;SB=-1273.53;TI=NM_015049;GI=TRAK2;FC=Synonymous_H296H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2323,166,0:54:99:1.000 chr2 202264156 rs13022344 C T 3042.36 PASS BaseQRankSum=0.849;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-0.543;QD=29.83;ReadPosRankSum=-1.392;SB=-1890.27;TI=NM_015049;GI=TRAK2;FC=Missense_V142I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,101:102:99:3075,192,0:53:99:0.990 chr2 202528830 . A AT 1538.73 PASS BaseQRankSum=-0.566;DP=108;FS=0.000;HRun=5;HaplotypeScore=38.0622;MQ=58;MQ0=0;MQRankSum=1.762;QD=14.25;ReadPosRankSum=0.410;SB=-711.73;TI=NM_033066;GI=MPP4;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,53:108:99:1578,0,1565:58:99:0.500 chr2 202557702 rs6725443 C T 4107.92 PASS DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=27.03;SB=-2949.71;TI=NM_033066;GI=MPP4;FC=Missense_G44S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,152:152:99:4108,289,0:52:99:1.000 chr2 202575821 rs3219168 G A 2121.62 PASS DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=28.29;SB=-1127.29;TI=NM_020919;GI=ALS2;FC=Synonymous_L1339L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2155,154,0:56:99:1.000 chr2 202598113 rs2276615 C T 4910.52 PASS BaseQRankSum=0.096;DP=168;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.6791;MQ=56;MQ0=0;MQRankSum=-0.731;QD=29.23;ReadPosRankSum=0.826;SB=-3053.23;TI=NM_020919;GI=ALS2;FC=Synonymous_V822V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,165:168:99:4911,319,0:56:99:0.982 chr2 202625615 rs3219156 C T 1783.46 PASS BaseQRankSum=0.208;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8881;MQ=58;MQ0=0;MQRankSum=-0.069;QD=35.67;ReadPosRankSum=-1.247;SB=-146.26;TI=NM_020919,NM_001135745;GI=ALS2,ALS2;FC=Missense_V368M,Missense_V368M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,49:50:99:1816,104,0:58:99:0.980 chr2 205829991 rs236843 C T 2994.27 PASS BaseQRankSum=1.673;DP=229;Dels=0.00;FS=1.634;HRun=0;HaplotypeScore=6.3070;MQ=54;MQ0=0;MQRankSum=3.598;QD=13.08;ReadPosRankSum=-1.802;SB=-1643.24;TI=NM_152526,NM_205863,NM_057177;GI=PARD3B,PARD3B,PARD3B;FC=Synonymous_A113A,Synonymous_A113A,Synonymous_A113A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,115:229:99:3024,0,2742:54:99:0.502 chr2 205912403 rs1510765 T C 3056.78 PASS DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=27.29;SB=-2143.49;TI=NM_152526,NM_205863,NM_057177;GI=PARD3B,PARD3B,PARD3B;FC=Missense_L165P,Missense_L165P,Missense_L165P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:3090,220,0:56:99:1.000 chr2 205969220 rs2289025 G A 1592.27 PASS BaseQRankSum=1.209;DP=159;Dels=0.00;FS=2.846;HRun=2;HaplotypeScore=4.5658;MQ=53;MQ0=0;MQRankSum=0.980;QD=10.01;ReadPosRankSum=2.025;SB=-1106.23;TI=NM_152526,NM_205863,NM_057177;GI=PARD3B,PARD3B,PARD3B;FC=Missense_R192K,Missense_R192K,Missense_R192K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,70:159:99:1622,0,2158:53:99:0.440 chr2 206364737 rs10197347 T C 2123.65 PASS BaseQRankSum=1.795;DP=169;Dels=0.00;FS=3.674;HRun=1;HaplotypeScore=5.7183;MQ=55;MQ0=0;MQRankSum=3.392;QD=12.57;ReadPosRankSum=0.330;SB=-1478.84;TI=NM_152526,NM_205863,NM_057177;GI=PARD3B,PARD3B,PARD3B;FC=Synonymous_S992S,Synonymous_S953S,Synonymous_S985S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,95:169:99:2154,0,1750:55:99:0.565 chr2 206480486 rs56272619 T C 2334.94 PASS BaseQRankSum=-0.126;DP=219;Dels=0.00;FS=1.064;HRun=3;HaplotypeScore=6.4257;MQ=52;MQ0=0;MQRankSum=-0.214;QD=10.66;ReadPosRankSum=1.914;SB=-1278.55;TI=NM_152526,NM_205863,NM_057177;GI=PARD3B,PARD3B,PARD3B;FC=Synonymous_P1127P,Synonymous_P1088P,Synonymous_P1120P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,96:219:99:2365,0,3024:52:99:0.438 chr2 206581033 rs849541 G A 1705.96 PASS DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7605;MQ=57;MQ0=0;QD=28.91;SB=-709.25;TI=NM_201264,NM_018534,NM_201267,NM_201266,NM_201279,NM_003872;GI=NRP2,NRP2,NRP2,NRP2,NRP2,NRP2;FC=Missense_R123K,Missense_R123K,Missense_R123K,Missense_R123K,Missense_R123K,Missense_R123K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1739,129,0:57:99:1.000 chr2 206592695 rs849526 T C 1520.43 PASS BaseQRankSum=2.049;DP=119;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=3.7544;MQ=51;MQ0=0;MQRankSum=1.227;QD=12.78;ReadPosRankSum=-0.185;SB=-1096.94;TI=NM_201264,NM_018534,NM_201267,NM_201266,NM_201279,NM_003872;GI=NRP2,NRP2,NRP2,NRP2,NRP2,NRP2;FC=Synonymous_Y357Y,Synonymous_Y357Y,Synonymous_Y357Y,Synonymous_Y357Y,Synonymous_Y357Y,Synonymous_Y357Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,68:119:99:1550,0,1081:51:99:0.571 chr2 206608039 rs849568 T C 2571.58 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5213;MQ=57;MQ0=0;QD=30.61;SB=-830.70;TI=NM_201264,NM_018534,NM_201267,NM_201266,NM_201279,NM_003872;GI=NRP2,NRP2,NRP2,NRP2,NRP2,NRP2;FC=Synonymous_V468V,Synonymous_V468V,Synonymous_V468V,Synonymous_V468V,Synonymous_V468V,Synonymous_V468V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2605,193,0:57:99:1.000 chr2 206641239 . TCGCA T 730.76 PASS BaseQRankSum=4.394;DP=34;FS=3.086;HRun=0;HaplotypeScore=75.0190;MQ=53;MQ0=0;MQRankSum=1.347;QD=21.49;ReadPosRankSum=-0.425;SB=-332.03;TI=NM_018534,NM_201267,NM_201266,NM_201279,NM_003872;GI=NRP2,NRP2,NRP2,NRP2,NRP2;FC=Frameshift,Frameshift,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,10:34:99:770,0,1425:53:99:0.294 chr2 206641245 . T TA 407.24 PASS BaseQRankSum=4.652;DP=32;FS=1.533;HRun=0;HaplotypeScore=101.2429;MQ=54;MQ0=0;MQRankSum=0.603;QD=12.73;ReadPosRankSum=1.771;SB=-193.24;TI=NM_018534,NM_201267,NM_201266,NM_201279,NM_003872;GI=NRP2,NRP2,NRP2,NRP2,NRP2;FC=Frameshift,Frameshift,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,11:32:99:446,0,804:54:99:0.344 chr2 207988613 rs2700166 C T 8690.37 PASS DP=303;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.6429;MQ=53;MQ0=0;QD=28.68;SB=-5561.49;TI=NM_003709;GI=KLF7;FC=Synonymous_L206L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,303:303:99:8690,629,0:53:99:1.000 chr2 207998800 rs2284934 C T 1799.54 PASS DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41;MQ0=0;QD=26.08;SB=-1193.36;TI=NM_003709;GI=KLF7;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:1833,132,0:41:99:1.000 chr2 208973074 rs34376060 G A 1923.16 PASS BaseQRankSum=0.928;DP=173;Dels=0.00;FS=3.569;HRun=1;HaplotypeScore=2.6548;MQ=55;MQ0=0;MQRankSum=0.803;QD=11.12;ReadPosRankSum=0.870;SB=-1263.18 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,87:173:99:1953,0,1873:55:99:0.503 chr2 208977135 rs35960349 A G 2070.93 PASS BaseQRankSum=-0.763;DP=211;Dels=0.00;FS=0.522;HRun=0;HaplotypeScore=21.3757;MQ=53;MQ0=3;MQRankSum=-3.059;QD=9.81;ReadPosRankSum=0.221;SB=-1360.50 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,104:211:99:2101,0,2640:53:99:0.493 chr2 208986637 rs2305430 T C 1587.81 PASS DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3371;MQ=54;MQ0=0;QD=28.35;SB=-827.86;TI=NM_006891;GI=CRYGD;FC=Synonymous_R95R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:56:99:1621,120,0:54:99:1.000 chr2 208986658 rs75156162 G C 273.50 PASS BaseQRankSum=-0.086;DP=30;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=1.248;QD=9.12;ReadPosRankSum=1.549;SB=-152.70;TI=NM_006891;GI=CRYGD;FC=Missense_H88Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,11:30:99:303,0,436:57:99:0.367 chr2 208989037 rs2242074;rs61737586 A G 2475.79 PASS BaseQRankSum=0.548;DP=214;Dels=0.00;FS=1.092;HRun=0;HaplotypeScore=5.3865;MQ=53;MQ0=8;MQRankSum=0.267;QD=11.57;ReadPosRankSum=1.728;SB=-1351.15;TI=NM_006891;GI=CRYGD;FC=Synonymous_Y17Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,107:214:99:2506,0,2682:53:99:0.502 chr2 209007559 rs796287 T G 1461.46 PASS BaseQRankSum=2.157;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8936;MQ=54;MQ0=0;MQRankSum=1.312;QD=11.69;ReadPosRankSum=2.029;SB=-861.15;TI=NM_005210;GI=CRYGB;FC=Missense_I111L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,60:125:99:1491,0,1610:54:99:0.480 chr2 209010558 rs2854723 A G 198.61 PASS BaseQRankSum=0.827;DP=25;Dels=0.00;FS=2.066;HRun=3;HaplotypeScore=5.6797;MQ=56;MQ0=0;MQRankSum=-0.092;QD=7.94;ReadPosRankSum=-1.133;SB=-21.95;TI=NM_005210;GI=CRYGB;FC=Synonymous_P64P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,8:25:99:229,0,446:56:99:0.333 chr2 209108317 rs34218846 C T 1086.15 PASS BaseQRankSum=-0.216;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8928;MQ=51;MQ0=0;MQRankSum=0.953;QD=8.49;ReadPosRankSum=0.725;SB=-809.91;TI=NM_005896;GI=IDH1;FC=Missense_V178I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,52:128:99:1116,0,1786:51:99:0.406 chr2 209113192 rs11554137 G A 991.50 PASS BaseQRankSum=1.214;DP=94;Dels=0.00;FS=1.696;HRun=0;HaplotypeScore=7.2036;MQ=54;MQ0=0;MQRankSum=-0.903;QD=10.55;ReadPosRankSum=-1.548;SB=-605.10;TI=NM_005896;GI=IDH1;FC=Synonymous_G105G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,43:94:99:1021,0,1281:54:99:0.457 chr2 209184980 rs10932258 G A 4130.02 PASS DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.08;SB=-2430.88;TI=NM_015040;GI=PIKFYVE;FC=Missense_S696N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,142:142:99:4130,295,0:55:99:1.000 chr2 209184999 rs10932259 C T 4352.47 PASS DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=28.26;SB=-2908.47;TI=NM_015040;GI=PIKFYVE;FC=Synonymous_P702P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,154:154:99:4352,310,0:54:99:1.000 chr2 209190330 rs2363468 T C 4854.97 PASS DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9265;MQ=57;MQ0=0;QD=30.16;SB=-2912.86;TI=NM_015040;GI=PIKFYVE;FC=Missense_L932S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,161:161:99:4855,352,0:57:99:1.000 chr2 209190519 rs893254 A T 5422.50 PASS DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=57;MQ0=0;QD=33.06;SB=-2727.03;TI=NM_015040;GI=PIKFYVE;FC=Missense_Q995L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,164:164:99:5422,403,0:57:99:1.000 chr2 209190528 rs893253 C G 6125.29 PASS DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=32.41;SB=-3209.87;TI=NM_015040;GI=PIKFYVE;FC=Missense_T998S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,189:189:99:6125,457,0:57:99:1.000 chr2 209190632 rs999890 T G 3410.28 PASS BaseQRankSum=2.625;DP=308;Dels=0.00;FS=0.428;HRun=0;HaplotypeScore=14.6154;MQ=55;MQ0=0;MQRankSum=1.802;QD=11.07;ReadPosRankSum=0.360;SB=-1811.41;TI=NM_015040;GI=PIKFYVE;FC=Missense_S1033A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:168,138:308:99:3410,0,4420:55:99:0.451 chr2 209190649 rs999891 A G 3306.83 PASS BaseQRankSum=2.091;DP=322;Dels=0.00;FS=3.098;HRun=1;HaplotypeScore=12.8558;MQ=55;MQ0=0;MQRankSum=3.761;QD=10.27;ReadPosRankSum=0.418;SB=-2079.81;TI=NM_015040;GI=PIKFYVE;FC=Synonymous_R1038R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:180,142:322:99:3307,0,4641:55:99:0.441 chr2 209191082 rs1529979 C A 706.78 SB BaseQRankSum=1.561;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=1.387;QD=35.34;ReadPosRankSum=0.173;SB=-0.01;TI=NM_015040;GI=PIKFYVE;FC=Missense_Q1183K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,19:20:57.18:740,57,0:56:57:0.950 chr2 209191099 rs1529978 T C 705.18 SB;LowDP DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=37.11;SB=-0.01;TI=NM_015040;GI=PIKFYVE;FC=Synonymous_N1188N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:19:57.18:738,57,0:56:57:1.000 chr2 209209827 rs2304544 G A 2974.33 PASS DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=52;MQ0=0;QD=30.66;SB=-1488.07;TI=NM_015040;GI=PIKFYVE;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:3007,220,0:52:99:1.000 chr2 209212707 rs2304545 G A 561.14 PASS BaseQRankSum=1.831;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.824;QD=10.79;ReadPosRankSum=-0.385;SB=-370.91;TI=NM_015040;GI=PIKFYVE;FC=Synonymous_T1778T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,25:52:99:591,0,599:53:99:0.481 chr2 209214770 rs2118297 A G 1737.09 PASS DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=54;MQ0=0;QD=29.95;SB=-1070.53;TI=NM_015040;GI=PIKFYVE;FC=Synonymous_T1799T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:58:99:1770,129,0:54:99:1.000 chr2 209215586 rs994697 A G 2261.45 PASS DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=30.15;SB=-1016.82;TI=NM_015040;GI=PIKFYVE;FC=Synonymous_E1842E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2294,166,0:55:99:1.000 chr2 210559865 rs35927101 G A 2960.50 PASS BaseQRankSum=1.029;DP=219;Dels=0.00;FS=0.508;HRun=0;HaplotypeScore=15.9873;MQ=58;MQ0=0;MQRankSum=0.489;QD=13.52;ReadPosRankSum=-0.279;SB=-1729.10;TI=NM_001039538,NM_031845,NM_002374,NM_031847;GI=MAP2,MAP2,MAP2,MAP2;FC=Silent,Silent,Missense_G991R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,117:219:99:2990,0,2529:58:99:0.539 chr2 210745681 rs2370838 C A 1887.57 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=26.97;SB=-1248.42;TI=NM_182587,NM_032504;GI=UNC80,UNC80;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,70:70:99:1921,138,0:59:99:1.000 chr2 210783333 . G A 1439.18 PASS BaseQRankSum=1.594;DP=110;Dels=0.00;FS=3.567;HRun=0;HaplotypeScore=7.0979;MQ=50;MQ0=0;MQRankSum=-1.420;QD=13.08;ReadPosRankSum=-0.531;SB=-1003.16;TI=NM_182587,NM_032504;GI=UNC80,UNC80;FC=Synonymous_P1692P,Synonymous_P1697P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,60:110:99:1469,0,1195:50:99:0.545 chr2 210843383 rs2075117 G A 4518.40 PASS DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2823;MQ=50;MQ0=0;QD=25.67;SB=-3348.59;TI=NM_182587,NM_032504;GI=UNC80,UNC80;FC=Synonymous_Q2952Q,Synonymous_Q2957Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,176:176:99:4518,319,0:50:99:1.000 chr2 211085491 rs61731470 G A 639.64 PASS BaseQRankSum=1.121;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=0.707;QD=12.54;ReadPosRankSum=1.630;SB=-238.11;TI=NM_001608;GI=ACADL;FC=Missense_T38I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,25:51:99:670,0,759:59:99:0.490 chr2 211456637 rs1047883 A G 5028.44 PASS BaseQRankSum=1.635;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.5066;MQ=55;MQ0=0;MQRankSum=1.655;QD=27.94;ReadPosRankSum=-0.648;SB=-2926.39;TI=NM_001122633,NM_001875;GI=CPS1,CPS1;FC=Missense_T350A,Missense_T344A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,178:180:99:5028,343,0:55:99:0.994 chr2 211456639 rs2229589 C T 4883.88 PASS BaseQRankSum=2.073;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.5066;MQ=55;MQ0=0;MQRankSum=2.380;QD=27.75;ReadPosRankSum=-0.161;SB=-2926.23;TI=NM_001122633,NM_001875;GI=CPS1,CPS1;FC=Synonymous_T350T,Synonymous_T344T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,174:176:99:4884,307,0:55:99:0.989 chr2 211481257 rs2287599 C G 2347.44 PASS DP=86;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4704;MQ=55;MQ0=0;QD=27.30;SB=-1201.05;TI=NM_001122633,NM_001875,NM_001122634;GI=CPS1,CPS1,CPS1;FC=Synonymous_G899G,Synonymous_G893G,Synonymous_G442G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2380,169,0:55:99:1.000 chr2 211540507 rs1047891 C A 2054.93 PASS BaseQRankSum=1.505;DP=124;Dels=0.00;FS=0.698;HRun=1;HaplotypeScore=3.6821;MQ=56;MQ0=0;MQRankSum=-0.379;QD=16.57;ReadPosRankSum=0.313;SB=-1081.60;TI=NM_001122633,NM_001875,NM_001122634;GI=CPS1,CPS1,CPS1;FC=Missense_T1412N,Missense_T1406N,Missense_T955N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,74:124:99:2085,0,1386:56:99:0.597 chr2 212251864 rs3748962 T C 1808.12 PASS BaseQRankSum=2.297;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5181;MQ=53;MQ0=0;MQRankSum=2.270;QD=12.05;ReadPosRankSum=1.492;SB=-1028.07;TI=NM_005235,NM_001042599;GI=ERBB4,ERBB4;FC=Synonymous_V1065V,Synonymous_V1049V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,75:150:99:1838,0,1808:53:99:0.500 chr2 212578379 . TA T 100.77 R8;LowDP BaseQRankSum=0.311;DP=18;FS=1.778;HRun=14;HaplotypeScore=60.7683;MQ=53;MQ0=0;MQRankSum=0.133;QD=5.60;ReadPosRankSum=1.288;SB=-57.90;TI=NM_005235,NM_001042599;GI=ERBB4,ERBB4;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,6:18:99:140,0,113:53:99:0.462 chr2 214182100 rs10183630 A T 1815.56 PASS BaseQRankSum=-0.397;DP=149;Dels=0.00;FS=3.110;HRun=0;HaplotypeScore=9.4484;MQ=58;MQ0=0;MQRankSum=1.122;QD=12.18;ReadPosRankSum=0.047;SB=-919.30;TI=NM_001025436,NM_024532;GI=SPAG16,SPAG16;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,73:149:99:1846,0,2102:58:99:0.490 chr2 214228792 rs12469417 C T 1310.58 PASS DP=45;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.12;SB=-644.38;TI=NM_024532;GI=SPAG16;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,45:45:96.32:1344,96,0:55:96:1.000 chr2 214727221 rs2042791 A C 2638.89 PASS BaseQRankSum=2.588;DP=240;Dels=0.00;FS=2.900;HRun=4;HaplotypeScore=4.5737;MQ=55;MQ0=0;MQRankSum=1.831;QD=11.00;ReadPosRankSum=0.302;SB=-1469.42;TI=NM_024532;GI=SPAG16;FC=Missense_Q361H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:135,105:240:99:2669,0,3406:55:99:0.438 chr2 214794743 rs12623569 A C 2047.94 PASS BaseQRankSum=-0.618;DP=174;Dels=0.00;FS=6.525;HRun=0;HaplotypeScore=0.9159;MQ=56;MQ0=0;MQRankSum=-1.076;QD=11.77;ReadPosRankSum=-1.365;SB=-1014.95;TI=NM_024532;GI=SPAG16;FC=Missense_K425T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,83:174:99:2078,0,2539:56:99:0.477 chr2 215632255 rs2070094 C T 1309.36 PASS BaseQRankSum=1.003;DP=99;Dels=0.00;FS=0.767;HRun=0;HaplotypeScore=0.8941;MQ=49;MQ0=0;MQRankSum=-0.165;QD=13.23;ReadPosRankSum=2.968;SB=-753.63;TI=NM_000465;GI=BARD1;FC=Missense_V507M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,55:99:99:1339,0,1051:49:99:0.556 chr2 215632256 rs2070093 A G 1307.13 PASS BaseQRankSum=1.137;DP=99;Dels=0.00;FS=1.637;HRun=0;HaplotypeScore=1.7882;MQ=49;MQ0=0;MQRankSum=-0.489;QD=13.20;ReadPosRankSum=2.933;SB=-758.08;TI=NM_000465;GI=BARD1;FC=Synonymous_H506H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,55:99:99:1337,0,1014:49:99:0.556 chr2 215645464 rs2229571 C G 3428.53 PASS BaseQRankSum=-0.268;DP=207;Dels=0.00;FS=5.380;HRun=0;HaplotypeScore=3.6495;MQ=49;MQ0=0;MQRankSum=9.201;QD=16.56;ReadPosRankSum=1.570;SB=-1885.33;TI=NM_000465;GI=BARD1;FC=Missense_R378S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,133:207:99:3429,0,1852:49:99:0.643 chr2 215674224 rs1048108 G A 1582.54 PASS BaseQRankSum=1.548;DP=132;Dels=0.00;FS=3.167;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-0.654;QD=11.99;ReadPosRankSum=-0.002;SB=-885.09;TI=NM_000465;GI=BARD1;FC=Missense_P24S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,62:132:99:1613,0,1794:57:99:0.470 chr2 215820013 rs10498027 G A 1254.48 PASS BaseQRankSum=2.654;DP=126;Dels=0.00;FS=2.500;HRun=0;HaplotypeScore=2.7829;MQ=56;MQ0=0;MQRankSum=-0.334;QD=9.96;ReadPosRankSum=1.266;SB=-643.76;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Synonymous_Y1784Y,Synonymous_Y2102Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,52:126:99:1284,0,2118:56:99:0.413 chr2 215839570 rs16853022 C T 996.16 PASS BaseQRankSum=0.393;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=56;MQ0=0;MQRankSum=0.681;QD=10.60;ReadPosRankSum=0.953;SB=-750.98;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Synonymous_T1482T,Synonymous_T1800T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,47:94:99:1026,0,1096:56:99:0.500 chr2 215851303 rs34351934 A G 1855.97 PASS DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=30.43;SB=-1155.46;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Synonymous_L1058L,Synonymous_L1376L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1889,135,0:54:99:1.000 chr2 215854156 rs71428357 C T 1069.98 PASS BaseQRankSum=1.468;DP=99;Dels=0.00;FS=4.020;HRun=0;HaplotypeScore=5.3097;MQ=55;MQ0=0;MQRankSum=1.025;QD=10.81;ReadPosRankSum=0.834;SB=-413.78;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Synonymous_P924P,Synonymous_P1242P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,44:99:99:1100,0,1488:55:99:0.444 chr2 215876166 rs7560008 A T 4255.20 PASS DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=30.83;SB=-1623.29;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Missense_S459T,Missense_S777T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:138:99:4255,310,0:56:99:1.000 chr2 215876371 rs10198064 T C 1907.66 PASS DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=31.27;SB=-679.79;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Synonymous_A390A,Synonymous_A708A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1941,144,0:58:99:1.000 chr2 216211604 . A G 1631.03 PASS BaseQRankSum=2.286;DP=167;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6548;MQ=51;MQ0=0;MQRankSum=-1.141;QD=9.77;ReadPosRankSum=1.314;SB=-1161.12;TI=NM_004044;GI=ATIC;FC=Synonymous_G481G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,75:167:99:1661,0,2043:51:99:0.449 chr2 216235089 rs1250209 C T 2575.81 PASS DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;QD=25.01;SB=-1698.27;TI=NM_212478,NM_002026,NM_212482,NM_212476,NM_212474;GI=FN1,FN1,FN1,FN1,FN1;FC=Missense_V2114I,Missense_V2139I,Missense_V2261I,Missense_V2080I,Missense_V1960I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,103:103:99:2609,184,0:51:99:1.000 chr2 216249587 rs13652 C T 2450.71 PASS DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=30.26;SB=-1117.09;TI=NM_212478,NM_002026,NM_212482,NM_212476,NM_212474;GI=FN1,FN1,FN1,FN1,FN1;FC=Synonymous_E1484E,Synonymous_E1484E,Synonymous_E1575E,Synonymous_E1484E,Synonymous_E1484E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:81:99:2484,184,0:53:99:1.000 chr2 216269209 rs1053238 T G 2612.87 PASS BaseQRankSum=0.513;DP=108;Dels=0.00;FS=3.532;HRun=3;HaplotypeScore=2.7591;MQ=49;MQ0=0;MQRankSum=1.668;QD=24.19;ReadPosRankSum=-1.732;SB=-1764.46;TI=NM_212478,NM_002026,NM_212482,NM_212476,NM_212474;GI=FN1,FN1,FN1,FN1,FN1;FC=Synonymous_P1052P,Synonymous_P1052P,Synonymous_P1052P,Synonymous_P1052P,Synonymous_P1052P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,107:108:99:2646,159,0:49:99:0.991 chr2 216269254 rs7589580 T G 1566.61 PASS BaseQRankSum=2.371;DP=62;Dels=0.00;FS=3.540;HRun=1;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=0.657;QD=25.27;ReadPosRankSum=-0.657;SB=-995.09;TI=NM_212478,NM_002026,NM_212482,NM_212476,NM_212474;GI=FN1,FN1,FN1,FN1,FN1;FC=Synonymous_G1037G,Synonymous_G1037G,Synonymous_G1037G,Synonymous_G1037G,Synonymous_G1037G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,60:62:89.72:1600,90,0:53:90:0.968 chr2 216272900 rs2577301 T G 2779.62 PASS DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=51;MQ0=0;QD=27.80;SB=-1521.28;TI=NM_212478,NM_002026,NM_212482,NM_212476,NM_212474;GI=FN1,FN1,FN1,FN1,FN1;FC=Missense_T817P,Missense_T817P,Missense_T817P,Missense_T817P,Missense_T817P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:100:99:2813,205,0:51:99:1.000 chr2 216300482 rs1250259 T A 1229.62 PASS BaseQRankSum=1.421;DP=98;Dels=0.00;FS=6.503;HRun=0;HaplotypeScore=5.5862;MQ=57;MQ0=0;MQRankSum=1.272;QD=12.55;ReadPosRankSum=0.568;SB=-743.51;TI=NM_212478,NM_002026,NM_212482,NM_212476,NM_212474,NM_054034;GI=FN1,FN1,FN1,FN1,FN1,FN1;FC=Missense_Q15L,Missense_Q15L,Missense_Q15L,Missense_Q15L,Missense_Q15L,Missense_Q15L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,49:98:99:1260,0,1384:57:99:0.500 chr2 216904019 rs9288513 A T 1510.10 PASS BaseQRankSum=-0.009;DP=113;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7878;MQ=52;MQ0=0;MQRankSum=0.979;QD=13.36;ReadPosRankSum=0.973;SB=-1138.52;TI=NM_018441;GI=PECR;FC=Missense_F297L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,67:113:99:1540,0,1086:52:99:0.593 chr2 216908679 rs2303842 C T 1548.36 PASS BaseQRankSum=0.975;DP=141;Dels=0.00;FS=1.326;HRun=0;HaplotypeScore=1.7882;MQ=48;MQ0=0;MQRankSum=0.410;QD=10.98;ReadPosRankSum=3.178;SB=-996.19;TI=NM_018441;GI=PECR;FC=Synonymous_S258S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,69:141:99:1578,0,1643:48:99:0.489 chr2 217012901 rs207906 A G 4972.83 PASS DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.6401;MQ=57;MQ0=0;QD=28.10;SB=-3178.28;TI=NM_021141;GI=XRCC5;FC=Synonymous_T524T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,177:177:99:4973,355,0:57:99:1.000 chr2 217285060 . C G 564.22 PASS BaseQRankSum=-0.755;DP=47;Dels=0.00;FS=2.722;HRun=1;HaplotypeScore=1.8914;MQ=57;MQ0=0;MQRankSum=1.394;QD=12.00;ReadPosRankSum=-0.713;SB=-316.83;TI=NM_014140,NM_001127207;GI=SMARCAL1,SMARCAL1;FC=Missense_P301A,Missense_P301A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,24:47:99:594,0,600:57:99:0.511 chr2 217541495 . G A 870.56 PASS BaseQRankSum=0.182;DP=79;Dels=0.00;FS=0.908;HRun=2;HaplotypeScore=5.3026;MQ=49;MQ0=0;MQRankSum=-0.378;QD=11.02;ReadPosRankSum=-0.359;SB=-457.98;TI=NM_000599;GI=IGFBP5;FC=Synonymous_F266F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,37:79:99:901,0,1005:49:99:0.468 chr2 217541582 rs2160549 T C 2687.13 PASS DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=51;MQ0=0;QD=25.11;SB=-1885.09;TI=NM_000599;GI=IGFBP5;FC=Synonymous_K237K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:107:99:2720,193,0:51:99:1.000 chr2 219249013 rs2276631 C T 2577.60 PASS BaseQRankSum=2.036;DP=194;Dels=0.00;FS=1.145;HRun=2;HaplotypeScore=7.0704;MQ=55;MQ0=0;MQRankSum=0.193;QD=13.29;ReadPosRankSum=-1.200;SB=-1649.50;TI=NM_000578;GI=SLC11A1;FC=Synonymous_F66F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,112:194:99:2608,0,1869:55:99:0.577 chr2 219254622 rs2695342 A G 1928.65 PASS DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8561;MQ=57;MQ0=0;QD=29.22;SB=-878.73;TI=NM_000578;GI=SLC11A1;FC=Synonymous_A275A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:66:99:1962,141,0:57:99:1.000 chr2 219692790 rs5838710 A AG 2635.83 PASS DP=73;FS=0.000;HRun=3;HaplotypeScore=174.1849;MQ=60;MQ0=0;QD=36.11;SB=-848.43;TI=NM_017431;GI=PRKAG3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,70:73:99:2678,214,0:60:99:0.959 chr2 219694917 rs12328317 G A 2929.31 PASS BaseQRankSum=0.729;DP=236;Dels=0.00;FS=1.013;HRun=2;HaplotypeScore=12.8422;MQ=55;MQ0=0;MQRankSum=3.019;QD=12.41;ReadPosRankSum=0.658;SB=-1887.98;TI=NM_017431;GI=PRKAG3;FC=Synonymous_F139F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,120:236:99:2959,0,3026:55:99:0.513 chr2 219695487 rs692243 G C 529.47 PASS BaseQRankSum=0.441;DP=42;Dels=0.00;FS=4.675;HRun=1;HaplotypeScore=2.6274;MQ=56;MQ0=0;MQRankSum=1.801;QD=12.61;ReadPosRankSum=1.272;SB=-188.27;TI=NM_017431;GI=PRKAG3;FC=Missense_P71A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,20:42:99:559,0,520:56:99:0.476 chr2 219696485 rs60578863 G A 1223.88 PASS BaseQRankSum=1.413;DP=98;Dels=0.00;FS=2.684;HRun=0;HaplotypeScore=9.3711;MQ=52;MQ0=0;MQRankSum=0.787;QD=12.49;ReadPosRankSum=-0.986;SB=-754.32;TI=NM_017431;GI=PRKAG3;FC=Synonymous_P3P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,52:98:99:1254,0,1000:52:99:0.531 chr2 219846749 rs860573 G A 1084.47 PASS BaseQRankSum=-0.966;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4156;MQ=53;MQ0=0;MQRankSum=0.185;QD=12.19;ReadPosRankSum=-0.925;SB=-298.87;TI=NM_017521;GI=FEV;FC=Synonymous_G119G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,42:89:99:1114,0,1174:53:99:0.472 chr2 220083279 rs1109866 C T 1131.22 PASS BaseQRankSum=-0.866;DP=80;Dels=0.00;FS=1.852;HRun=0;HaplotypeScore=4.7849;MQ=52;MQ0=0;MQRankSum=0.488;QD=14.14;ReadPosRankSum=0.546;SB=-598.73;TI=NM_005689;GI=ABCB6;FC=Synonymous_L39L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,44:80:99:1161,0,802:52:99:0.550 chr2 220146651 rs3731897 G A 872.91 PASS BaseQRankSum=0.683;DP=60;Dels=0.00;FS=1.037;HRun=0;HaplotypeScore=4.5109;MQ=54;MQ0=0;MQRankSum=0.176;QD=14.55;ReadPosRankSum=-0.882;SB=-541.59;TI=NM_006736,NM_001039550;GI=DNAJB2,DNAJB2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,38:60:99:903,0,566:54:99:0.633 chr2 220283259 rs1318299 A G 167.78 LowGQ;SB;LowDP DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=27.96;SB=-0.01;TI=NM_001927;GI=DES;FC=Synonymous_P25P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:15.05:201,15,0:56:15:1.000 chr2 220283277 rs2017800 T C 443.49 SB;LowDP DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=34.11;SB=-0.01;TI=NM_001927;GI=DES;FC=Synonymous_S31S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,13:13:36.12:476,36,0:58:36:1.000 chr2 220285309 rs1058261 C T 1318.91 PASS BaseQRankSum=0.279;DP=126;Dels=0.00;FS=1.450;HRun=0;HaplotypeScore=11.7873;MQ=53;MQ0=0;MQRankSum=-0.136;QD=10.47;ReadPosRankSum=0.992;SB=-853.81;TI=NM_001927;GI=DES;FC=Synonymous_D276D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,59:126:99:1349,0,1625:53:99:0.472 chr2 220285666 rs12920 G C 1081.23 PASS BaseQRankSum=-0.254;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=53;MQ0=0;MQRankSum=3.662;QD=11.75;ReadPosRankSum=-0.363;SB=-605.03;TI=NM_001927;GI=DES;FC=Synonymous_L338L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,44:92:99:1111,0,1113:53:99:0.478 chr2 220286142 rs1058284 G A 859.22 PASS BaseQRankSum=0.110;DP=93;Dels=0.00;FS=4.019;HRun=0;HaplotypeScore=3.7552;MQ=56;MQ0=0;MQRankSum=0.274;QD=9.24;ReadPosRankSum=0.180;SB=-671.85;TI=NM_001927;GI=DES;FC=Synonymous_A368A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,43:93:99:889,0,1186:56:99:0.467 chr2 220419236 rs10932813 T C 2549.62 PASS DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3361;MQ=54;MQ0=0;QD=25.24;SB=-1787.38;TI=NM_015311;GI=OBSL1;FC=Synonymous_T1612T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:101:99:2583,187,0:54:99:1.000 chr2 220419339 rs10932814 T C 3442.63 PASS DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3097;MQ=50;MQ0=0;QD=26.48;SB=-2228.33;TI=NM_015311;GI=OBSL1;FC=Missense_Q1578R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:130:99:3443,247,0:50:99:1.000 chr2 220420956 rs10932816 A G 5429.04 PASS BaseQRankSum=0.259;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.0005;MQ=56;MQ0=0;MQRankSum=0.611;QD=27.70;ReadPosRankSum=-0.570;SB=-3242.44;TI=NM_015311,NM_001173431;GI=OBSL1,OBSL1;FC=Synonymous_D1465D,Synonymous_D1465D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,191:196:99:5429,353,0:56:99:0.985 chr2 220421417 rs1983210 C G 1593.84 PASS DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7539;MQ=59;MQ0=0;QD=32.53;SB=-422.24;TI=NM_015311,NM_001173431;GI=OBSL1,OBSL1;FC=Missense_E1365D,Missense_E1365D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1627,120,0:59:99:1.000 chr2 220430203 rs1039898 C T 1041.30 PASS BaseQRankSum=-0.522;DP=74;Dels=0.00;FS=2.570;HRun=1;HaplotypeScore=6.4806;MQ=58;MQ0=0;MQRankSum=0.913;QD=14.07;ReadPosRankSum=1.251;SB=-312.29;TI=NM_015311,NM_001173431,NM_001173408;GI=OBSL1,OBSL1,OBSL1;FC=Missense_R723K,Missense_R723K,Missense_R723K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,41:74:99:1071,0,937:58:99:0.554 chr2 220431631 rs1043537 G T 487.20 PASS BaseQRankSum=0.572;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=57;MQ0=0;MQRankSum=0.353;QD=11.33;ReadPosRankSum=-1.838;SB=-231.85;TI=NM_015311,NM_001173431,NM_001173408;GI=OBSL1,OBSL1,OBSL1;FC=Synonymous_A685A,Synonymous_A685A,Synonymous_A685A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,20:43:99:517,0,612:57:99:0.465 chr2 220432014 rs61732787 G A 771.96 PASS BaseQRankSum=1.504;DP=43;Dels=0.00;FS=7.317;HRun=2;HaplotypeScore=0.9998;MQ=60;MQ0=0;MQRankSum=-0.599;QD=17.95;ReadPosRankSum=0.061;SB=-158.08;TI=NM_015311,NM_001173431,NM_001173408;GI=OBSL1,OBSL1,OBSL1;FC=Synonymous_F606F,Synonymous_F606F,Synonymous_F606F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,24:43:99:802,0,626:60:99:0.558 chr2 220432957 rs35009641 G A 1810.63 PASS BaseQRankSum=-0.587;DP=204;Dels=0.00;FS=1.789;HRun=0;HaplotypeScore=4.5596;MQ=57;MQ0=0;MQRankSum=1.092;QD=8.88;ReadPosRankSum=0.265;SB=-986.42;TI=NM_015311,NM_001173431,NM_001173408;GI=OBSL1,OBSL1,OBSL1;FC=Missense_R368C,Missense_R368C,Missense_R368C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,86:204:99:1841,0,2910:57:99:0.422 chr2 220435034 rs10180675 A G 675.36 PASS BaseQRankSum=0.330;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9996;MQ=57;MQ0=0;MQRankSum=0.734;QD=14.37;ReadPosRankSum=1.649;SB=-137.24;TI=NM_015311,NM_001173431,NM_001173408;GI=OBSL1,OBSL1,OBSL1;FC=Synonymous_L307L,Synonymous_L307L,Synonymous_L307L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,24:47:99:705,0,676:57:99:0.511 chr2 220494118 rs597306 A C 2508.49 PASS DP=96;Dels=0.01;FS=0.000;HRun=7;HaplotypeScore=12.9831;MQ=56;MQ0=0;QD=26.13;SB=-1338.56;TI=NM_201574,NM_005070;GI=SLC4A3,SLC4A3;FC=Missense_H157P,Missense_H157P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:2541,190,0:56:99:1.000 chr2 220500423 rs589767 A G 2523.46 PASS DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=57;MQ0=0;QD=34.57;SB=-545.44;TI=NM_201574,NM_005070;GI=SLC4A3,SLC4A3;FC=Synonymous_E694E,Synonymous_E667E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2556,199,0:57:99:1.000 chr2 220500426 rs639214 A G 2500.62 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=57;MQ0=0;QD=34.26;SB=-578.54;TI=NM_201574,NM_005070;GI=SLC4A3,SLC4A3;FC=Synonymous_A695A,Synonymous_A668A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:73:99:2534,196,0:57:99:1.000 chr2 220502367 rs635311 A C 3313.38 PASS DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=30.12;SB=-1703.99;TI=NM_201574,NM_005070;GI=SLC4A3,SLC4A3;FC=Missense_D894A,Missense_D867A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:3313,244,0:56:99:1.000 chr2 220505265 rs684428 T C 5519.21 PASS DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5082;MQ=51;MQ0=0;QD=26.92;SB=-3802.24;TI=NM_201574,NM_005070;GI=SLC4A3,SLC4A3;FC=Synonymous_L1158L,Synonymous_L1131L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,205:205:99:5519,397,0:51:99:1.000 chr2 223066919 rs2855268 C G 215.40 SB;LowDP BaseQRankSum=-0.101;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-2.424;QD=16.57;ReadPosRankSum=0.312;SB=-0.01;TI=NM_181461,NM_181458,NM_181459,NM_001127366,NM_181460,NM_181457;GI=PAX3,PAX3,PAX3,PAX3,PAX3,PAX3;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,7:13:99:245,0,204:60:99:0.538 chr2 223161889 rs12623857 A G 3233.06 PASS DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.6789;MQ=56;MQ0=0;QD=29.66;SB=-1504.62;TI=NM_181461,NM_181458,NM_181459,NM_001127366,NM_181460,NM_181457,NM_013942,NM_000438;GI=PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3,PAX3;FC=Synonymous_G43G,Synonymous_G43G,Synonymous_G43G,Synonymous_G43G,Synonymous_G43G,Synonymous_G43G,Synonymous_G43G,Synonymous_G43G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:109:99:3268,241,0:56:99:1.000 chr2 223917629 rs3795886 C T 1571.21 PASS BaseQRankSum=-1.327;DP=103;Dels=0.00;FS=0.793;HRun=0;HaplotypeScore=7.8620;MQ=57;MQ0=0;MQRankSum=-0.759;QD=15.25;ReadPosRankSum=-2.010;SB=-637.99;TI=NM_080671;GI=KCNE4;FC=Synonymous_G27G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,60:103:99:1601,0,1099:57:99:0.583 chr2 223917812 rs10201907 T C 925.10 PASS BaseQRankSum=-0.422;DP=55;Dels=0.00;FS=3.138;HRun=2;HaplotypeScore=10.7687;MQ=57;MQ0=0;MQRankSum=1.175;QD=16.82;ReadPosRankSum=2.252;SB=-127.65;TI=NM_080671;GI=KCNE4;FC=Synonymous_P88P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,30:55:99:955,0,664:57:99:0.566 chr2 223917983 rs12621643 T G 529.38 PASS BaseQRankSum=2.059;DP=62;Dels=0.00;FS=2.197;HRun=1;HaplotypeScore=3.7491;MQ=57;MQ0=0;MQRankSum=0.994;QD=8.54;ReadPosRankSum=-0.838;SB=-391.72;TI=NM_080671;GI=KCNE4;FC=Missense_D145E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,27:62:99:559,0,865:57:99:0.435 chr2 227872995 rs2228555 T C 1345.41 PASS BaseQRankSum=1.342;DP=110;Dels=0.00;FS=0.713;HRun=0;HaplotypeScore=0.8667;MQ=54;MQ0=0;MQRankSum=2.861;QD=12.23;ReadPosRankSum=0.601;SB=-935.17;TI=NM_000092;GI=COL4A4;FC=Synonymous_V1516V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,56:110:99:1375,0,1357:54:99:0.509 chr2 227886773 rs3752895 A G 1646.71 PASS BaseQRankSum=2.614;DP=120;Dels=0.00;FS=1.475;HRun=4;HaplotypeScore=12.1408;MQ=53;MQ0=0;MQRankSum=3.207;QD=13.72;ReadPosRankSum=1.115;SB=-1016.85;TI=NM_000092;GI=COL4A4;FC=Missense_S1403P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,68:120:99:1677,0,1185:53:99:0.567 chr2 227892619 rs3817490 C T 1041.68 PASS BaseQRankSum=0.175;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.483;QD=13.89;ReadPosRankSum=0.992;SB=-408.04;TI=NM_000092;GI=COL4A4;FC=Synonymous_P1360P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,39:75:99:1072,0,976:56:99:0.520 chr2 227892720 rs2229813 C T 1142.83 PASS BaseQRankSum=-0.671;DP=84;Dels=0.00;FS=1.837;HRun=1;HaplotypeScore=14.5401;MQ=58;MQ0=0;MQRankSum=1.316;QD=13.61;ReadPosRankSum=-0.318;SB=-685.72;TI=NM_000092;GI=COL4A4;FC=Missense_V1327M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,49:84:99:1173,0,739:58:99:0.583 chr2 227896652 rs13423714 C G 1534.22 PASS BaseQRankSum=1.385;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2038;MQ=54;MQ0=0;MQRankSum=2.303;QD=13.23;ReadPosRankSum=-0.512;SB=-981.64;TI=NM_000092;GI=COL4A4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,65:116:99:1564,0,1157:54:99:0.560 chr2 227896886 rs2229812 C T 1932.37 PASS BaseQRankSum=0.568;DP=128;Dels=0.00;FS=1.460;HRun=3;HaplotypeScore=11.6636;MQ=54;MQ0=0;MQRankSum=2.058;QD=15.10;ReadPosRankSum=-1.930;SB=-1199.03;TI=NM_000092;GI=COL4A4;FC=Synonymous_K1228K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,76:128:99:1962,0,1206:54:99:0.598 chr2 227896976 rs10203363 C T 1454.47 PASS BaseQRankSum=0.763;DP=91;Dels=0.00;FS=0.864;HRun=0;HaplotypeScore=5.6542;MQ=54;MQ0=0;MQRankSum=-0.265;QD=15.98;ReadPosRankSum=-2.508;SB=-627.81;TI=NM_000092;GI=COL4A4;FC=Synonymous_G1198G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,56:91:99:1484,0,923:54:99:0.615 chr2 227915832 rs1800517 G A 2714.19 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=53;MQ0=0;QD=28.87;SB=-1734.74;TI=NM_000092;GI=COL4A4;FC=Missense_P1004L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2747,199,0:53:99:1.000 chr2 227922321 rs3769641 A G 692.68 PASS BaseQRankSum=1.469;DP=84;Dels=0.00;FS=4.643;HRun=0;HaplotypeScore=3.7878;MQ=54;MQ0=0;MQRankSum=1.584;QD=8.25;ReadPosRankSum=-2.047;SB=-232.32;TI=NM_000092;GI=COL4A4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,28:84:99:723,0,1438:54:99:0.337 chr2 227946893 rs1800516 C G 990.44 PASS BaseQRankSum=0.332;DP=78;Dels=0.00;FS=4.486;HRun=0;HaplotypeScore=1.9996;MQ=58;MQ0=0;MQRankSum=-0.261;QD=12.70;ReadPosRankSum=0.693;SB=-541.42;TI=NM_000092;GI=COL4A4;FC=Missense_G545A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,43:78:99:1020,0,912:58:99:0.551 chr2 227954599 rs2229814 G A 4174.83 PASS BaseQRankSum=1.690;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=53;MQ0=0;MQRankSum=-1.435;QD=25.46;ReadPosRankSum=0.499;SB=-3039.89;TI=NM_000092;GI=COL4A4;FC=Missense_P482S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,162:164:99:4175,298,0:53:99:0.994 chr2 228102723 rs13424243 G C 716.84 PASS BaseQRankSum=-0.644;DP=61;Dels=0.00;FS=3.697;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=-0.137;QD=11.75;ReadPosRankSum=-0.543;SB=-453.21;TI=NM_000091;GI=COL4A3;FC=Missense_G43R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,33:61:99:747,0,799:55:99:0.541 chr2 228111435 rs10178458 T C 1860.71 PASS DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=25.49;SB=-1190.03;TI=NM_000091;GI=COL4A3;FC=Missense_L141P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:1894,132,0:54:99:1.000 chr2 228113175 rs6436669 A G 3738.41 PASS DP=130;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=15.2919;MQ=53;MQ0=0;QD=28.76;SB=-2253.39;TI=NM_000091;GI=COL4A3;FC=Missense_E162G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3738,268,0:53:99:1.000 chr2 228121101 rs55703767 G T 704.31 PASS BaseQRankSum=2.864;DP=52;Dels=0.00;FS=8.800;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.967;QD=13.54;ReadPosRankSum=-0.485;SB=-393.55;TI=NM_000091;GI=COL4A3;FC=Missense_D326Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,26:52:99:734,0,738:55:99:0.500 chr2 228128540 rs10205042 C T 762.92 PASS BaseQRankSum=0.445;DP=56;Dels=0.00;FS=1.048;HRun=1;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=1.854;QD=13.62;ReadPosRankSum=-1.434;SB=-513.69;TI=NM_000091;GI=COL4A3;FC=Synonymous_L399L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,34:56:99:793,0,558:52:99:0.607 chr2 228221725 rs74713223 A G 1077.67 PASS BaseQRankSum=0.550;DP=80;Dels=0.00;FS=0.840;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=-1.052;QD=13.47;ReadPosRankSum=-0.164;SB=-662.06;TI=NM_020194;GI=MFF;FC=Synonymous_L307L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,43:80:99:1108,0,824:55:99:0.538 chr2 228560800 rs11334205 GA G 1538.88 PASS DP=52;FS=0.000;HRun=8;HaplotypeScore=55.0463;MQ=53;MQ0=0;QD=29.59;SB=-471.51;TI=NM_025243;GI=SLC19A3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,47:52:99:1581,141,0:53:99:0.904 chr2 230632268 rs6687 G A 1309.89 PASS BaseQRankSum=-0.425;DP=122;Dels=0.00;FS=0.689;HRun=1;HaplotypeScore=1.8938;MQ=53;MQ0=0;MQRankSum=-0.049;QD=10.74;ReadPosRankSum=1.064;SB=-751.62;TI=NM_004238;GI=TRIP12;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,54:122:99:1340,0,1666:53:99:0.443 chr2 230668858 rs13018957 T C 4773.91 PASS DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=54;MQ0=0;QD=29.47;SB=-2809.68;TI=NM_004238;GI=TRIP12;FC=Synonymous_T837T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,162:162:99:4774,346,0:54:99:1.000 chr2 231042276 rs1135791 A G 1249.64 PASS BaseQRankSum=1.484;DP=101;Dels=0.00;FS=2.919;HRun=0;HaplotypeScore=1.8939;MQ=54;MQ0=0;MQRankSum=0.024;QD=12.37;ReadPosRankSum=-0.411;SB=-547.56;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_M523T,Missense_M523T,Missense_M523T,Missense_M529T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,50:101:99:1280,0,1361:54:99:0.495 chr2 231050715 rs3948464 A G 3063.19 PASS DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=54;MQ0=0;QD=28.10;SB=-1736.87;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_L425S,Missense_L425S,Missense_L425S,Missense_L431S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:109:99:3096,223,0:54:99:1.000 chr2 231072709 rs1365776 C T 1124.62 PASS BaseQRankSum=1.186;DP=89;Dels=0.00;FS=4.225;HRun=1;HaplotypeScore=6.5784;MQ=55;MQ0=0;MQRankSum=0.833;QD=12.64;ReadPosRankSum=1.916;SB=-423.12;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_G299R,Missense_G299R,Missense_G299R,Missense_G305R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,44:89:99:1155,0,1275:55:99:0.494 chr2 231077725 rs1129411 A G 1022.76 PASS DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=35.27;SB=-80.66;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_W112R,Missense_W112R,Missense_W112R,Missense_W118R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:78.26:1056,78,0:60:78:1.000 chr2 231331896 rs1050224 G A 4298.76 PASS DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=25.90;SB=-3201.64;TI=NM_003113,NM_001080391;GI=SP100,SP100;FC=Synonymous_S419S,Synonymous_S419S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,166:166:99:4299,304,0:53:99:1.000 chr2 231333763 rs12724 A G 2211.04 PASS DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=52;MQ0=0;QD=27.64;SB=-1305.63;TI=NM_003113,NM_001080391;GI=SP100,SP100;FC=Missense_M433V,Missense_M433V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2244,166,0:52:99:1.000 chr2 231363252 rs34979917 TA T 128.25 R8 BaseQRankSum=-1.325;DP=51;FS=0.000;HRun=13;HaplotypeScore=58.2033;MQ=55;MQ0=0;MQRankSum=0.306;QD=2.51;ReadPosRankSum=0.691;SB=-57.22;TI=NM_003113,NM_001080391;GI=SP100,SP100;FC=Splicing,Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,11:51:99:167,0,735:55:99:0.234 chr2 231406680 rs836237 T C 3654.07 PASS DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=49;MQ0=0;QD=27.27;SB=-2439.11;TI=NM_001080391;GI=SP100;FC=Missense_M826T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:134:99:3654,262,0:49:99:1.000 chr2 231775297 rs1992186 T G 555.73 PASS BaseQRankSum=0.187;DP=46;Dels=0.00;FS=1.154;HRun=1;HaplotypeScore=0.8667;MQ=58;MQ0=0;MQRankSum=2.298;QD=12.08;ReadPosRankSum=-1.286;SB=-297.85;TI=NM_005683;GI=GPR55;FC=Synonymous_L127L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,22:46:99:586,0,604:58:99:0.478 chr2 233385396 rs1550094 G A 580.07 PASS BaseQRankSum=0.058;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=53;MQ0=0;MQRankSum=0.116;QD=11.60;ReadPosRankSum=-1.863;SB=-297.14;TI=NM_001195129;GI=LOC646960;FC=Missense_A30T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,25:50:99:610,0,639:53:99:0.500 chr2 233388813 rs2741299 T G 2052.78 PASS DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0682;MQ=56;MQ0=0;QD=30.19;SB=-1153.29;TI=NM_001195129;GI=LOC646960;FC=Synonymous_P417P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,67:68:99:2086,156,0:56:99:1.000 chr2 233389918 rs2853447 A G 771.06 PASS BaseQRankSum=0.621;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2436;MQ=57;MQ0=0;MQRankSum=-0.947;QD=12.85;ReadPosRankSum=-1.391;SB=-195.62;TI=NM_001195129;GI=LOC646960;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,29:60:99:801,0,899:57:99:0.483 chr2 233390937 rs2245601 A G 1336.78 PASS BaseQRankSum=2.306;DP=104;Dels=0.00;FS=4.978;HRun=1;HaplotypeScore=12.6789;MQ=54;MQ0=0;MQRankSum=-0.465;QD=12.85;ReadPosRankSum=1.363;SB=-617.40;TI=NM_000751;GI=CHRND;FC=Synonymous_P4P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,50:104:99:1367,0,1361:54:99:0.485 chr2 233400074 rs2767 A G 1784.45 PASS BaseQRankSum=0.513;DP=117;Dels=0.00;FS=0.700;HRun=1;HaplotypeScore=5.5552;MQ=57;MQ0=0;MQRankSum=-0.984;QD=15.25;ReadPosRankSum=0.585;SB=-978.07;TI=NM_000751;GI=CHRND;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,69:117:99:1814,0,1315:57:99:0.590 chr2 233400907 rs1004175 T C 4557.99 PASS BaseQRankSum=0.244;DP=302;Dels=0.00;FS=0.456;HRun=0;HaplotypeScore=8.2027;MQ=55;MQ0=0;MQRankSum=3.262;QD=15.09;ReadPosRankSum=0.793;SB=-1751.28 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:138,163:302:99:4558,0,3709:55:99:0.542 chr2 233401047 . A G 5226.63 PASS BaseQRankSum=0.208;DP=452;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=19.4109;MQ=55;MQ0=0;MQRankSum=3.245;QD=11.56;ReadPosRankSum=-0.180;SB=-3518.62 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:223,229:452:99:5227,0,4970:55:99:0.507 chr2 233599904 rs11555646 A C 562.42 PASS BaseQRankSum=2.399;DP=68;Dels=0.00;FS=2.048;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.128;QD=8.27;ReadPosRankSum=0.143;SB=-454.49;TI=NM_001103147,NM_001103146,NM_001103148,NM_015575;GI=GIGYF2,GIGYF2,GIGYF2,GIGYF2;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,28:68:99:592,0,1032:55:99:0.412 chr2 233633460 rs1801251 G A 87.98 SB;LowDP BaseQRankSum=0.536;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.289;QD=7.33;ReadPosRankSum=-1.239;SB=-0.01;TI=NM_001103147,NM_001103146,NM_001103148,NM_015575,NM_002242,NM_001172416,NM_001172417;GI=GIGYF2,GIGYF2,GIGYF2,GIGYF2,KCNJ13,KCNJ13,KCNJ13;FC=Silent,Silent,Silent,Silent,Missense_T175I,Silent,Missense_T95I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,4:12:99:118,0,275:56:88:0.333 chr2 233708806 rs3816334 A G 716.51 PASS BaseQRankSum=2.383;DP=62;Dels=0.00;FS=1.053;HRun=0;HaplotypeScore=2.6823;MQ=57;MQ0=0;MQRankSum=1.294;QD=11.56;ReadPosRankSum=-1.917;SB=-266.07;TI=NM_001103147,NM_001103146,NM_001103148,NM_015575;GI=GIGYF2,GIGYF2,GIGYF2,GIGYF2;FC=Synonymous_Q1001Q,Synonymous_Q980Q,Synonymous_Q974Q,Synonymous_Q980Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,28:62:99:747,0,834:57:99:0.452 chr2 233712049 rs2305137 G A 826.37 PASS BaseQRankSum=0.296;DP=55;Dels=0.00;FS=1.455;HRun=0;HaplotypeScore=3.6821;MQ=59;MQ0=0;MQRankSum=-1.800;QD=15.02;ReadPosRankSum=-0.008;SB=-172.23;TI=NM_001103147,NM_001103146,NM_001103148,NM_015575;GI=GIGYF2,GIGYF2,GIGYF2,GIGYF2;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,30:55:99:856,0,766:59:99:0.545 chr2 233712226 rs10555297 CACA C 7123.63 PASS BaseQRankSum=11.900;DP=264;FS=0.943;HRun=0;HaplotypeScore=793.6342;MQ=55;MQ0=0;MQRankSum=2.781;QD=26.98;ReadPosRankSum=2.385;SB=-3113.25;TI=NM_001103147,NM_001103146,NM_001103148,NM_015575;GI=GIGYF2,GIGYF2,GIGYF2,GIGYF2;FC=1AA_Deletion,1AA_Deletion,1AA_Deletion,1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:137,125:264:99:7124,0,7743:55:99:0.477 chr2 233712248 rs12328151 G A 2820.58 PASS BaseQRankSum=0.124;DP=247;Dels=0.00;FS=0.475;HRun=0;HaplotypeScore=13.1317;MQ=55;MQ0=0;MQRankSum=0.485;QD=11.42;ReadPosRankSum=0.097;SB=-1713.49;TI=NM_001103147,NM_001103146,NM_001103148,NM_015575;GI=GIGYF2,GIGYF2,GIGYF2,GIGYF2;FC=Synonymous_P1238P,Synonymous_P1217P,Synonymous_P1211P,Synonymous_P1217P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,123:247:99:2851,0,3105:55:99:0.498 chr2 233899126 rs2233391 C A 2786.86 PASS BaseQRankSum=1.470;DP=215;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1416;MQ=55;MQ0=0;MQRankSum=0.637;QD=12.96;ReadPosRankSum=1.288;SB=-1773.06;TI=NM_005383;GI=NEU2;FC=Missense_H168N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,109:215:99:2817,0,2873:55:99:0.507 chr2 234171812 rs13011156 A G 1132.13 PASS BaseQRankSum=1.121;DP=98;Dels=0.00;FS=1.653;HRun=0;HaplotypeScore=4.6818;MQ=52;MQ0=0;MQRankSum=-0.701;QD=11.55;ReadPosRankSum=-1.000;SB=-717.60;TI=NM_001190267,NM_030803,NM_198890,NM_001190266,NM_017974;GI=ATG16L1,ATG16L1,ATG16L1,ATG16L1,ATG16L1;FC=Silent,Synonymous_L82L,Silent,Silent,Synonymous_L82L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,52:98:99:1162,0,1250:52:99:0.531 chr2 234183368 rs2241880 A G 2871.42 PASS DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;QD=26.84;SB=-2043.43;TI=NM_001190267,NM_030803,NM_198890,NM_001190266,NM_017974;GI=ATG16L1,ATG16L1,ATG16L1,ATG16L1,ATG16L1;FC=Missense_T184A,Missense_T300A,Missense_T137A,Missense_T216A,Missense_T281A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:107:99:2904,205,0:50:99:1.000 chr2 234590616 rs7577677 C A 162.64 LowGQ;LowDP DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=32.53;SB=-40.40;TI=NM_019076,NM_019075,NM_021027,NM_019077;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7;FC=Silent,Silent,Silent,Synonymous_P11P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:15.05:195,15,0:55:15:1.000 chr2 234590970 rs17868323;rs76359435 T G 1098.48 PASS DP=35;Dels=0.03;FS=0.000;HRun=1;HaplotypeScore=2.8553;MQ=56;MQ0=0;QD=31.39;SB=-639.29;TI=NM_019076,NM_019075,NM_021027,NM_019077;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7;FC=Silent,Silent,Silent,Missense_N129K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:84.27:1131,84,0:56:84:1.000 chr2 234590974 rs17863778 C A 1050.90 PASS BaseQRankSum=1.529;DP=34;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.325;QD=30.91;ReadPosRankSum=1.529;SB=-524.51;TI=NM_019076,NM_019075,NM_021027,NM_019077;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7;FC=Silent,Silent,Silent,Synonymous_R131R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,33:34:58.63:1084,59,0:55:59:0.971 chr2 234590975 rs17868324;rs78725335 G A 1109.54 PASS DP=34;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=32.63;SB=-619.78;TI=NM_019076,NM_019075,NM_021027,NM_019077;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7;FC=Silent,Silent,Silent,Missense_R131Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:87.27:1143,87,0:55:87:1.000 chr2 234591205 rs11692021 T C 976.11 PASS DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=31.49;SB=-424.73;TI=NM_019076,NM_019075,NM_021027,NM_019077;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7;FC=Silent,Silent,Silent,Missense_W208R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,31:31:78.23:1009,78,0:54:78:1.000 chr2 234601669 rs6759892 T G 2947.81 PASS DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6248;MQ=54;MQ0=0;QD=30.08;SB=-1353.00;TI=NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6;FC=Silent,Silent,Silent,Silent,Silent,Missense_S7A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:98:99:2981,220,0:54:99:1.000 chr2 234601965 rs1105880 A G 7309.67 PASS BaseQRankSum=1.688;DP=238;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=55;MQ0=0;MQRankSum=-0.300;QD=30.71;ReadPosRankSum=-0.680;SB=-2904.13;TI=NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6;FC=Silent,Silent,Silent,Silent,Silent,Synonymous_L105L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,236:238:99:7310,536,0:55:99:0.996 chr2 234602191 rs2070959 A G 3678.15 PASS DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6789;MQ=56;MQ0=0;QD=33.44;SB=-1333.92;TI=NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6;FC=Silent,Silent,Silent,Silent,Silent,Missense_T181A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:3678,271,0:56:99:1.000 chr2 234602202 rs1105879 A C 3490.38 PASS DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8924;MQ=56;MQ0=0;QD=33.56;SB=-1103.04;TI=NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6;FC=Silent,Silent,Silent,Silent,Silent,Missense_R184S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:104:99:3490,259,0:56:99:1.000 chr2 234622429 rs2012734;rs79107898 T C 498.53 PASS DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5101;MQ=49;MQ0=3;QD=23.74;SB=-148.97;TI=NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5;FC=Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_D264D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:21:39.13:532,39,0:49:39:1.000 chr2 234627937 rs2011404 T C 846.00 PASS DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=35.25;SB=-317.81;TI=NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_C157C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:66.21:879,66,0:59:66:1.000 chr2 234637803 rs3821242 T C 543.66 PASS DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=2;QD=24.71;SB=-267.93;TI=NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_W11R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,22:22:42.14:577,42,0:52:42:1.000 chr2 234637853 rs6706232 G A 464.36 LowDP DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=24.44;SB=-307.23;TI=NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_E27E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:19:36.12:497,36,0:53:36:1.000 chr2 234637912 rs6431625 T C 528.45 LowDP DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=29.36;SB=-267.60;TI=NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V47A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,18:18:42.13:561,42,0:57:42:1.000 chr2 234638249 rs7574296 A G 1240.64 PASS DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8558;MQ=56;MQ0=0;QD=30.26;SB=-464.07;TI=NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_A159A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:93.31:1274,93,0:56:93:1.000 chr2 234638580 rs45449995 A G 270.88 PASS BaseQRankSum=0.693;DP=25;Dels=0.00;FS=2.031;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.749;QD=10.84;ReadPosRankSum=0.194;SB=-28.61;TI=NM_019076,NM_019075,NM_021027,NM_019077,NM_205862,NM_001072,NM_019078,NM_007120,NM_019093;GI=UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6,UGT1A5,UGT1A4,UGT1A3;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M270V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,10:25:99:301,0,462:58:99:0.400 chr2 238287629 . C T 3448.43 PASS BaseQRankSum=2.029;DP=261;Dels=0.00;FS=1.516;HRun=0;HaplotypeScore=3.6168;MQ=56;MQ0=0;MQRankSum=2.275;QD=13.21;ReadPosRankSum=0.007;SB=-1715.33;TI=NM_004369,NM_057166,NM_057167,NM_057165,NM_057164;GI=COL6A3,COL6A3,COL6A3,COL6A3,COL6A3;FC=Missense_G716D,Silent,Missense_G510D,Missense_G510D,Missense_G309D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:137,124:261:99:3448,0,3836:56:99:0.475 chr2 238427194 rs3751109 T C 1216.68 PASS BaseQRankSum=0.813;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3452;MQ=55;MQ0=0;MQRankSum=1.108;QD=12.94;ReadPosRankSum=0.155;SB=-500.72;TI=NM_024101,NM_001042467;GI=MLPH,MLPH;FC=Missense_L153P,Missense_L153P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,46:94:99:1247,0,1255:55:99:0.489 chr2 238427251 rs3751107 G A 1457.21 PASS BaseQRankSum=1.171;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9917;MQ=55;MQ0=0;MQRankSum=-0.439;QD=13.13;ReadPosRankSum=-0.758;SB=-804.84;TI=NM_024101,NM_001042467;GI=MLPH,MLPH;FC=Missense_G172D,Missense_G172D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,56:111:99:1487,0,1365:55:99:0.505 chr2 238434434 rs11883500 C T 614.53 PASS BaseQRankSum=0.052;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.519;QD=11.38;ReadPosRankSum=-0.156;SB=-287.22;TI=NM_024101,NM_001042467;GI=MLPH,MLPH;FC=Missense_T289I,Missense_T289I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,27:54:99:645,0,724:57:99:0.500 chr2 238443226 rs2292884 A G 665.34 PASS BaseQRankSum=1.779;DP=64;Dels=0.00;FS=2.056;HRun=0;HaplotypeScore=0.8941;MQ=49;MQ0=0;MQRankSum=-0.947;QD=10.40;ReadPosRankSum=1.175;SB=-470.78;TI=NM_024101,NM_001042467;GI=MLPH,MLPH;FC=Missense_H347R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,32:64:99:695,0,760:49:99:0.500 chr2 238449107 rs2271809 A G 2022.51 PASS BaseQRankSum=1.863;DP=217;Dels=0.00;FS=1.066;HRun=1;HaplotypeScore=3.8769;MQ=54;MQ0=0;MQRankSum=2.460;QD=9.32;ReadPosRankSum=2.087;SB=-1445.96;TI=NM_024101,NM_001042467;GI=MLPH,MLPH;FC=Synonymous_E407E,Synonymous_E379E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,98:217:99:2053,0,2807:54:99:0.452 chr2 239162038 rs78832829 A G 809.16 PASS BaseQRankSum=1.044;DP=52;Dels=0.00;FS=8.293;HRun=1;HaplotypeScore=5.4518;MQ=55;MQ0=0;MQRankSum=1.958;QD=15.56;ReadPosRankSum=0.205;SB=-416.22;TI=NM_022817;GI=PER2;FC=Missense_F876L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,31:52:99:839,0,481:55:99:0.596 chr2 239229372 rs13398676 C A 1223.79 PASS DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=24.00;SB=-854.75;TI=NM_015650,NM_001139490;GI=TRAF3IP1,TRAF3IP1;FC=Synonymous_T23T,Synonymous_T23T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:87.29:1257,87,0:53:87:1.000 chr2 239237953 rs12464423 G T 38.48 LowDP BaseQRankSum=0.536;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;MQRankSum=-0.289;QD=3.21;ReadPosRankSum=-1.239;SB=-62.60;TI=NM_015650,NM_001139490;GI=TRAF3IP1,TRAF3IP1;FC=Missense_K295N,Missense_K295N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,4:12:68.47:68,0,184:50:38:0.333 chr2 240003870 rs1063639 G A 2176.28 PASS BaseQRankSum=2.617;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5232;MQ=54;MQ0=0;MQRankSum=1.549;QD=13.86;ReadPosRankSum=0.768;SB=-1387.41;TI=NM_006037;GI=HDAC4;FC=Synonymous_P855P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,90:157:99:2206,0,1498:54:99:0.573 chr2 240011717 rs61752234 T C 908.99 PASS BaseQRankSum=1.396;DP=84;Dels=0.00;FS=2.847;HRun=4;HaplotypeScore=2.5929;MQ=51;MQ0=0;MQRankSum=2.121;QD=10.82;ReadPosRankSum=0.304;SB=-567.73;TI=NM_006037;GI=HDAC4;FC=Synonymous_T787T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,41:84:99:939,0,940:51:99:0.488 chr2 240029736 rs7585225 T C 5071.90 PASS DP=174;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=57;MQ0=0;QD=29.15;SB=-2718.34;TI=NM_006037;GI=HDAC4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,174:174:99:5072,367,0:57:99:1.000 chr2 240055931 rs10207474 T C 2857.22 PASS BaseQRankSum=1.149;DP=244;Dels=0.00;FS=0.471;HRun=0;HaplotypeScore=8.3260;MQ=51;MQ0=0;MQRankSum=-0.333;QD=11.71;ReadPosRankSum=-3.353;SB=-2132.50;TI=NM_006037;GI=HDAC4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,133:244:99:2887,0,2641:51:99:0.545 chr2 240066417 rs2290087 A G 8414.35 PASS DP=277;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3752;MQ=55;MQ0=0;QD=30.38;SB=-3916.61;TI=NM_006037;GI=HDAC4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,276:277:99:8414,611,0:55:99:1.000 chr2 240900607 . TG T 1031.23 PASS BaseQRankSum=-3.237;DP=87;FS=0.834;HRun=5;HaplotypeScore=49.0184;MQ=54;MQ0=0;MQRankSum=0.799;QD=11.85;ReadPosRankSum=-1.317;SB=-527.93;TI=NM_004544;GI=NDUFA10;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,35:87:99:1070,0,1576:54:99:0.402 chr2 240946766 rs13848 T C 2043.04 PASS BaseQRankSum=1.875;DP=195;Dels=0.00;FS=0.532;HRun=0;HaplotypeScore=9.6782;MQ=57;MQ0=0;MQRankSum=0.612;QD=10.48;ReadPosRankSum=-0.482;SB=-1343.85;TI=NM_004544;GI=NDUFA10;FC=Synonymous_Q257Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,90:195:99:2073,0,2643:57:99:0.462 chr2 240961728 rs2083411 T C 2234.74 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=53;MQ0=0;QD=27.59;SB=-1278.25;TI=NM_004544;GI=NDUFA10;FC=Synonymous_K35K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2268,163,0:53:99:1.000 chr2 240964695 . C T 275.60 LowDP BaseQRankSum=0.591;DP=18;Dels=0.00;FS=6.245;HRun=0;HaplotypeScore=0.0000;MQ=42;MQ0=0;MQRankSum=1.971;QD=15.31;ReadPosRankSum=1.971;SB=-227.77;TI=NM_004544;GI=NDUFA10;FC=Synonymous_L8L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,13:18:99:306,0,120:42:99:0.722 chr2 241537421 rs3749166 G A 1045.64 PASS BaseQRankSum=1.377;DP=91;Dels=0.00;FS=5.445;HRun=0;HaplotypeScore=1.7608;MQ=57;MQ0=0;MQRankSum=2.036;QD=11.49;ReadPosRankSum=-0.147;SB=-735.18;TI=NM_023083,NM_023085;GI=CAPN10,CAPN10;FC=Synonymous_A620A,Synonymous_A465A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,46:91:99:1076,0,1270:57:99:0.505 chr2 241538074 rs2975766 A G 4314.98 PASS DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8640;MQ=55;MQ0=0;QD=27.84;SB=-2664.54;TI=NM_023083,NM_023085;GI=CAPN10,CAPN10;FC=Missense_I666V,Missense_I511V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4315,307,0:55:99:1.000 chr2 241696840 . ATCC A 2000.15 R8 DP=47;FS=0.000;HRun=0;HaplotypeScore=46.3844;MQ=59;MQ0=0;QD=42.56;SB=-771.15;TI=NM_004321;GI=KIF1A;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:7,37:47:99:2042,126,0:59:99:0.841 chr2 241700676 rs35945835 G A 3142.48 PASS BaseQRankSum=2.560;DP=277;Dels=0.00;FS=0.931;HRun=0;HaplotypeScore=26.4381;MQ=56;MQ0=0;MQRankSum=3.073;QD=11.34;ReadPosRankSum=1.319;SB=-2076.42;TI=NM_004321;GI=KIF1A;FC=Synonymous_A736A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,135:277:99:3172,0,3539:56:99:0.489 chr2 241713646 rs1063353 A G 2753.30 PASS DP=103;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=26.73;SB=-1708.08;TI=NM_004321;GI=KIF1A;FC=Synonymous_L331L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,103:103:99:2786,199,0:50:99:1.000 chr2 241727459 . G C 245.91 SB BaseQRankSum=-2.985;DP=50;Dels=0.02;FS=26.668;HRun=6;HaplotypeScore=70.1464;MQ=42;MQ0=0;MQRankSum=-3.006;QD=4.92;ReadPosRankSum=0.738;SB=-0.01;TI=NM_004321;GI=KIF1A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,21:49:99:276,0,562:42:99:0.447 chr2 241727461 . T C 128.42 SB BaseQRankSum=-1.906;DP=51;Dels=0.02;FS=19.248;HRun=1;HaplotypeScore=79.7124;MQ=42;MQ0=0;MQRankSum=-2.630;QD=2.52;ReadPosRankSum=1.416;SB=-0.01;TI=NM_004321;GI=KIF1A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,18:50:99:158,0,568:42:99:0.375 chr2 241727475 . A G 32.37 SB BaseQRankSum=-3.687;DP=60;Dels=0.00;FS=8.669;HRun=3;HaplotypeScore=73.2818;MQ=44;MQ0=0;MQRankSum=-2.872;QD=0.54;ReadPosRankSum=0.563;SB=-0.01;TI=NM_004321;GI=KIF1A;FC=Missense_I119T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,13:60:62.36:62,0,939:44:32:0.232 chr2 241727627 . C A 2597.79 PASS BaseQRankSum=0.788;DP=224;Dels=0.00;FS=3.029;HRun=1;HaplotypeScore=10.7030;MQ=52;MQ0=0;MQRankSum=2.859;QD=11.60;ReadPosRankSum=1.994;SB=-1694.97;TI=NM_004321;GI=KIF1A;FC=Synonymous_A68A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,111:224:99:2628,0,2614:52:99:0.500 chr2 241808314 rs34116584 C T 1896.98 PASS BaseQRankSum=-1.651;DP=156;Dels=0.00;FS=1.281;HRun=0;HaplotypeScore=10.7381;MQ=55;MQ0=0;MQRankSum=0.310;QD=12.16;ReadPosRankSum=-1.056;SB=-1121.90;TI=NM_000030;GI=AGXT;FC=Missense_P11L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,82:156:99:1927,0,1749:55:99:0.529 chr2 241808685 rs35698882 C T 2025.73 PASS BaseQRankSum=1.448;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=53;MQ0=0;MQRankSum=1.810;QD=10.66;ReadPosRankSum=-0.484;SB=-1454.35;TI=NM_000030;GI=AGXT;FC=Synonymous_A88A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,92:190:99:2056,0,2183:53:99:0.484 chr2 241817516 rs4426527 A G 3712.80 PASS BaseQRankSum=1.589;DP=260;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5624;MQ=54;MQ0=0;MQRankSum=2.927;QD=14.28;ReadPosRankSum=-0.355;SB=-2727.56;TI=NM_000030;GI=AGXT;FC=Missense_I340M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,165:260:99:3713,0,2098:54:99:0.635 chr2 242072280 rs11684830 G A 415.65 PASS BaseQRankSum=1.611;DP=38;Dels=0.00;FS=1.392;HRun=2;HaplotypeScore=4.6542;MQ=58;MQ0=0;MQRankSum=0.429;QD=10.94;ReadPosRankSum=-0.902;SB=-207.77;TI=NM_015148;GI=PASK;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,16:38:99:446,0,568:58:99:0.421 chr2 242077496 rs1470414 C T 643.63 PASS BaseQRankSum=-1.285;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9987;MQ=56;MQ0=0;MQRankSum=-0.040;QD=11.29;ReadPosRankSum=-0.849;SB=-259.57;TI=NM_015148;GI=PASK;FC=Missense_V250I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,24:57:99:674,0,909:56:99:0.421 chr2 242082262 rs6709462 T C 1565.00 PASS BaseQRankSum=0.611;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5404;MQ=54;MQ0=0;MQRankSum=1.422;QD=13.61;ReadPosRankSum=0.881;SB=-861.16;TI=NM_015148;GI=PASK;FC=Synonymous_T62T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,64:115:99:1595,0,1240:54:99:0.557 chr2 242129524 rs34069570 G A 2322.03 PASS BaseQRankSum=0.468;DP=200;Dels=0.00;FS=6.012;HRun=1;HaplotypeScore=17.3048;MQ=51;MQ0=0;MQRankSum=1.664;QD=11.61;ReadPosRankSum=-0.439;SB=-1685.95;TI=NM_001001666,NM_001001891;GI=ANO7,ANO7;FC=Missense_D70N,Missense_D70N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,104:200:99:2352,0,2251:51:99:0.520 chr2 242141719 rs2074840 C T 1964.24 PASS BaseQRankSum=-1.641;DP=162;Dels=0.00;FS=0.628;HRun=0;HaplotypeScore=2.7798;MQ=55;MQ0=0;MQRankSum=1.377;QD=12.12;ReadPosRankSum=-2.325;SB=-766.23;TI=NM_001001891;GI=ANO7;FC=Synonymous_D295D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,81:162:99:1994,0,2244:55:99:0.500 chr2 242142737 rs1179530 T C 3283.12 PASS BaseQRankSum=1.639;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6955;MQ=54;MQ0=0;MQRankSum=0.093;QD=29.31;ReadPosRankSum=-1.608;SB=-1318.26;TI=NM_001001891;GI=ANO7;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,111:112:99:3283,241,0:54:99:0.991 chr2 242148972 . G A 2059.79 PASS BaseQRankSum=-0.841;DP=214;Dels=0.00;FS=0.538;HRun=0;HaplotypeScore=11.9330;MQ=56;MQ0=0;MQRankSum=1.334;QD=9.63;ReadPosRankSum=0.026;SB=-935.22;TI=NM_001001891;GI=ANO7;FC=Synonymous_T481T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:128,86:214:99:2090,0,3371:56:99:0.402 chr2 242151585 rs7593101 C T 1184.33 PASS BaseQRankSum=0.785;DP=131;Dels=0.00;FS=1.400;HRun=1;HaplotypeScore=4.6818;MQ=51;MQ0=0;MQRankSum=1.864;QD=9.04;ReadPosRankSum=-1.616;SB=-794.06;TI=NM_001001891;GI=ANO7;FC=Synonymous_Y600Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,53:131:99:1214,0,1835:51:99:0.405 chr2 242157228 rs78605785 G T 912.27 PASS BaseQRankSum=0.281;DP=63;Dels=0.00;FS=2.395;HRun=0;HaplotypeScore=5.0964;MQ=54;MQ0=0;MQRankSum=0.353;QD=14.48;ReadPosRankSum=-1.233;SB=-525.32;TI=NM_001001891;GI=ANO7;FC=Synonymous_P754P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,41:63:99:942,0,539:54:99:0.651 chr2 242163359 rs7590653 G A 1594.98 PASS BaseQRankSum=1.037;DP=128;Dels=0.00;FS=0.677;HRun=1;HaplotypeScore=14.3793;MQ=55;MQ0=0;MQRankSum=2.773;QD=12.46;ReadPosRankSum=0.398;SB=-825.81;TI=NM_001001891;GI=ANO7;FC=Missense_E912K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,62:128:99:1625,0,1553:55:99:0.484 chr2 242176019 rs2305073 T C 153.22 PASS BaseQRankSum=0.485;DP=21;Dels=0.00;FS=2.046;HRun=0;HaplotypeScore=1.7987;MQ=56;MQ0=0;MQRankSum=-1.082;QD=7.30;ReadPosRankSum=0.560;SB=-24.97;TI=NM_203346,NM_005336;GI=HDLBP,HDLBP;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,7:21:99:183,0,394:56:99:0.333 chr2 242176188 rs2305071 G C 199.69 LowDP BaseQRankSum=0.212;DP=13;Dels=0.00;FS=2.920;HRun=0;HaplotypeScore=0.9159;MQ=57;MQ0=0;MQRankSum=-0.696;QD=15.36;ReadPosRankSum=1.670;SB=-30.98;TI=NM_203346,NM_005336;GI=HDLBP,HDLBP;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,8:13:99:230,0,158:57:99:0.615 chr2 242179134 rs10153800 G A 2454.81 PASS BaseQRankSum=-0.985;DP=191;Dels=0.00;FS=1.811;HRun=0;HaplotypeScore=8.2623;MQ=56;MQ0=0;MQRankSum=0.880;QD=12.85;ReadPosRankSum=-0.780;SB=-1354.43;TI=NM_203346,NM_005336;GI=HDLBP,HDLBP;FC=Synonymous_G831G,Synonymous_G831G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,101:191:99:2485,0,2393:56:99:0.529 chr2 242192848 rs7578199 T C 1213.62 PASS BaseQRankSum=3.873;DP=132;Dels=0.00;FS=2.210;HRun=0;HaplotypeScore=0.8667;MQ=52;MQ0=0;MQRankSum=1.948;QD=9.19;ReadPosRankSum=2.407;SB=-846.38;TI=NM_203346,NM_005336;GI=HDLBP,HDLBP;FC=Missense_N418S,Missense_N418S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,57:132:99:1244,0,1850:52:99:0.432 chr2 242203916 rs11891776 A C 3380.00 PASS DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.48;SB=-2238.09;TI=NM_203346,NM_005336;GI=HDLBP,HDLBP;FC=Missense_S61A,Missense_S61A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:3380,241,0:52:99:1.000 chr2 242674803 rs77940364 G A 1469.75 PASS BaseQRankSum=-0.888;DP=123;Dels=0.00;FS=0.710;HRun=0;HaplotypeScore=4.3191;MQ=55;MQ0=0;MQRankSum=2.129;QD=11.95;ReadPosRankSum=1.244;SB=-612.01;TI=NM_152783;GI=D2HGDH;FC=Missense_R55Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,55:123:99:1500,0,1586:55:99:0.447 chr2 242684115 rs4234097 T C 107.00 SB;LowDP BaseQRankSum=-0.365;DP=10;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=1.133;QD=10.70;ReadPosRankSum=1.568;SB=-0.01;TI=NM_152783;GI=D2HGDH;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,4:10:99:137,0,109:54:99:0.400 chr2 242690675 rs1106639 G A 1530.66 PASS BaseQRankSum=-1.701;DP=104;Dels=0.00;FS=0.926;HRun=0;HaplotypeScore=3.7603;MQ=56;MQ0=0;MQRankSum=0.257;QD=14.72;ReadPosRankSum=-0.277;SB=-315.91;TI=NM_152783;GI=D2HGDH;FC=Missense_V338I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,54:104:99:1561,0,1400:56:99:0.519 chr2 242793273 rs2227981 A G 1244.72 PASS BaseQRankSum=1.143;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.8105;MQ=56;MQ0=0;MQRankSum=1.331;QD=9.29;ReadPosRankSum=0.438;SB=-908.13;TI=NM_005018;GI=PDCD1;FC=Synonymous_A268A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,58:134:99:1275,0,1837:56:99:0.433 chr3 391100 rs13060847 A G 4659.83 PASS DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=58;MQ0=0;QD=31.07;SB=-2632.75;TI=NM_006614;GI=CHL1;FC=Missense_T303A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:4660,340,0:58:99:1.000 chr3 439963 rs6442827 A G 5885.23 PASS DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.28;SB=-3583.76;TI=NM_006614;GI=CHL1;FC=Missense_I1050V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,201:201:99:5885,424,0:56:99:1.000 chr3 440028 rs6771714 T C 6716.71 PASS DP=257;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4370;MQ=56;MQ0=0;QD=26.14;SB=-4213.07;TI=NM_006614;GI=CHL1;FC=Synonymous_N1071N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,257:257:99:6717,473,0:56:99:1.000 chr3 3081750 rs6802588 A T 1046.69 PASS BaseQRankSum=0.248;DP=61;Dels=0.00;FS=2.385;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=2.110;QD=17.16;ReadPosRankSum=-1.810;SB=-500.73;TI=NM_175613,NM_175612;GI=CNTN4,CNTN4;FC=Synonymous_R403R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,39:61:99:1077,0,542:56:99:0.639 chr3 3081825 rs339285 T C 2060.82 PASS BaseQRankSum=0.790;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8871;MQ=54;MQ0=0;MQRankSum=2.155;QD=13.65;ReadPosRankSum=1.124;SB=-1317.49;TI=NM_175613,NM_175612;GI=CNTN4,CNTN4;FC=Synonymous_D428D,Synonymous_D12D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,85:151:99:2091,0,1493:54:99:0.563 chr3 3197918 rs17027638 A G 1551.80 PASS BaseQRankSum=1.135;DP=125;Dels=0.00;FS=6.116;HRun=0;HaplotypeScore=4.6538;MQ=52;MQ0=0;MQRankSum=-0.972;QD=12.41;ReadPosRankSum=-1.036;SB=-839.63;TI=NM_016302,NM_001173482;GI=CRBN,CRBN;FC=Synonymous_Y245Y,Synonymous_Y244Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,66:125:99:1582,0,1583:52:99:0.528 chr3 3215954 rs1669321 A G 1331.65 PASS DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=35.99;SB=-201.32;TI=NM_016302,NM_001173482;GI=CRBN,CRBN;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,37:37:99:1365,102,0:58:99:1.000 chr3 4403817 rs2633851 T A 2322.69 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4121;MQ=56;MQ0=0;QD=27.01;SB=-1329.19;TI=NM_001164674,NM_001164675,NM_182760;GI=SUMF1,SUMF1,SUMF1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2356,169,0:56:99:1.000 chr3 4403818 rs35083095;rs71623163 T C 888.03 PASS BaseQRankSum=0.084;DP=86;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4121;MQ=56;MQ0=0;MQRankSum=0.189;QD=10.33;ReadPosRankSum=0.620;SB=-533.33;TI=NM_001164674,NM_001164675,NM_182760;GI=SUMF1,SUMF1,SUMF1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,43:86:99:918,0,1035:56:99:0.506 chr3 4403837 rs2633852 A G 2755.12 PASS DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=54;MQ0=0;QD=25.99;SB=-1700.01;TI=NM_001164674,NM_001164675,NM_182760;GI=SUMF1,SUMF1,SUMF1;FC=Synonymous_T347T,Synonymous_T352T,Synonymous_T372T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2788,199,0:54:99:1.000 chr3 4508742 rs2819590 C T 1163.47 PASS BaseQRankSum=0.621;DP=82;Dels=0.00;FS=1.956;HRun=1;HaplotypeScore=4.1952;MQ=59;MQ0=0;MQRankSum=0.811;QD=14.19;ReadPosRankSum=0.071;SB=-469.82;TI=NM_001164674,NM_001164675,NM_182760;GI=SUMF1,SUMF1,SUMF1;FC=Missense_S63N,Missense_S63N,Missense_S63N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,44:82:99:1193,0,914:59:99:0.543 chr3 4699936 rs2306869 G C 544.98 PASS BaseQRankSum=2.237;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=1.401;QD=10.09;ReadPosRankSum=0.670;SB=-403.93;TI=NM_001099952,NM_001168272,NM_002222;GI=ITPR1,ITPR1,ITPR1;FC=Synonymous_L375L,Synonymous_L360L,Synonymous_L360L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,24:54:99:575,0,738:52:99:0.444 chr3 4699967 rs2306868 C G 330.87 PASS BaseQRankSum=-0.491;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=1.435;QD=10.34;ReadPosRankSum=0.944;SB=-236.13;TI=NM_001099952,NM_001168272,NM_002222;GI=ITPR1,ITPR1,ITPR1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,15:32:99:361,0,441:54:99:0.469 chr3 4703937 rs7632000 C T 1850.43 PASS BaseQRankSum=1.623;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=0.752;QD=14.23;ReadPosRankSum=1.515;SB=-707.55;TI=NM_001099952,NM_001168272,NM_002222;GI=ITPR1,ITPR1,ITPR1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,72:130:99:1880,0,1675:55:99:0.554 chr3 4712413 rs2306875 G A 1595.25 PASS BaseQRankSum=-0.235;DP=111;Dels=0.00;FS=1.598;HRun=0;HaplotypeScore=5.4571;MQ=56;MQ0=0;MQRankSum=-0.036;QD=14.37;ReadPosRankSum=0.535;SB=-852.35;TI=NM_001099952,NM_001168272,NM_002222;GI=ITPR1,ITPR1,ITPR1;FC=Unknown_669,Unknown_654,Unknown_654;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,61:111:99:1625,0,1282:56:99:0.555 chr3 4716811 rs2306877 A C 1579.28 PASS BaseQRankSum=-0.180;DP=132;Dels=0.00;FS=1.373;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=-1.443;QD=11.96;ReadPosRankSum=-0.832;SB=-1136.46;TI=NM_001099952,NM_001168272,NM_002222;GI=ITPR1,ITPR1,ITPR1;FC=Synonymous_L886L,Synonymous_L871L,Synonymous_L871L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,70:132:99:1609,0,1414:51:99:0.530 chr3 4767262 rs7613447 T C 853.93 PASS BaseQRankSum=0.259;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8631;MQ=51;MQ0=0;MQRankSum=0.584;QD=12.38;ReadPosRankSum=-0.090;SB=-604.99;TI=NM_001099952,NM_001168272,NM_002222;GI=ITPR1,ITPR1,ITPR1;FC=Silent,Synonymous_T1708T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,37:69:99:884,0,671:51:99:0.536 chr3 4817057 rs6442905 T C 1705.30 PASS DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.50;SB=-1102.04;TI=NM_001099952,NM_001168272,NM_002222;GI=ITPR1,ITPR1,ITPR1;FC=Synonymous_N1989N,Synonymous_N2022N,Synonymous_N1974N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,62:62:99:1738,126,0:52:99:1.000 chr3 4842231 rs2291862 C T 2955.55 PASS BaseQRankSum=-0.456;DP=226;Dels=0.00;FS=1.026;HRun=1;HaplotypeScore=5.3645;MQ=54;MQ0=0;MQRankSum=3.138;QD=13.08;ReadPosRankSum=3.397;SB=-1947.54;TI=NM_001099952,NM_001168272,NM_002222;GI=ITPR1,ITPR1,ITPR1;FC=Synonymous_L2304L,Synonymous_L2337L,Synonymous_L2289L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,120:226:99:2986,0,2494:54:99:0.531 chr3 4856180 rs711631 T C 1791.91 PASS DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5215;MQ=48;MQ0=0;QD=28.00;SB=-1013.41;TI=NM_001099952,NM_001168272,NM_002222;GI=ITPR1,ITPR1,ITPR1;FC=Synonymous_T2497T,Synonymous_T2530T,Synonymous_T2482T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1825,135,0:48:99:1.000 chr3 4856234 rs901854 G A 504.30 PASS BaseQRankSum=-1.082;DP=38;Dels=0.00;FS=1.377;HRun=2;HaplotypeScore=5.3371;MQ=53;MQ0=0;MQRankSum=0.381;QD=13.27;ReadPosRankSum=0.046;SB=-254.16;TI=NM_001099952,NM_001168272,NM_002222;GI=ITPR1,ITPR1,ITPR1;FC=Synonymous_K2515K,Synonymous_K2548K,Synonymous_K2500K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,20:38:99:534,0,384:53:99:0.541 chr3 6903297 rs3749380 C T 5491.99 PASS BaseQRankSum=-0.524;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0598;MQ=55;MQ0=0;MQRankSum=1.680;QD=29.53;ReadPosRankSum=1.653;SB=-3296.43;TI=NM_000844,NM_181874;GI=GRM7,GRM7;FC=Synonymous_N74N,Synonymous_N74N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,183:186:99:5492,365,0:55:99:0.989 chr3 6903601 rs342034 A G 3826.72 PASS DP=122;Dels=0.01;FS=0.000;HRun=3;HaplotypeScore=3.5665;MQ=56;MQ0=0;QD=31.37;SB=-1259.65;TI=NM_000844,NM_181874;GI=GRM7,GRM7;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:121:99:3827,283,0:56:99:1.000 chr3 7620168 rs34373930 A G 2392.62 PASS BaseQRankSum=2.324;DP=184;Dels=0.00;FS=1.857;HRun=0;HaplotypeScore=4.5761;MQ=55;MQ0=0;MQRankSum=0.500;QD=13.00;ReadPosRankSum=0.295;SB=-1154.44;TI=NM_000844,NM_181874;GI=GRM7,GRM7;FC=Synonymous_L525L,Synonymous_L525L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,92:184:99:2423,0,2529:55:99:0.500 chr3 7620789 rs1485175 T C 8097.38 PASS DP=262;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=56;MQ0=0;QD=30.91;SB=-4736.32;TI=NM_000844,NM_181874;GI=GRM7,GRM7;FC=Synonymous_Y732Y,Synonymous_Y732Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,262:262:99:8097,593,0:56:99:1.000 chr3 7620828 rs1485174 G A 2996.75 PASS BaseQRankSum=0.644;DP=226;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6537;MQ=57;MQ0=0;MQRankSum=1.119;QD=13.26;ReadPosRankSum=0.507;SB=-1773.18;TI=NM_000844,NM_181874;GI=GRM7,GRM7;FC=Synonymous_G745G,Synonymous_G745G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,112:226:99:3027,0,3158:57:99:0.498 chr3 8775661 rs1008642 C T 671.04 PASS BaseQRankSum=2.238;DP=83;Dels=0.00;FS=1.817;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;MQRankSum=-2.154;QD=8.08;ReadPosRankSum=0.675;SB=-446.85;TI=NM_033337,NM_001234;GI=CAV3,CAV3;FC=Synonymous_N33N,Synonymous_N33N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,33:83:99:701,0,1164:50:99:0.398 chr3 8809184 rs237902 G A 431.45 PASS BaseQRankSum=0.518;DP=27;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-0.469;QD=15.98;ReadPosRankSum=-1.258;SB=-180.89;TI=NM_000916;GI=OXTR;FC=Synonymous_N230N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,16:27:99:461,0,263:58:99:0.593 chr3 8809703 rs2228485 G A 982.66 PASS DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=32.76;SB=-156.21;TI=NM_000916;GI=OXTR;FC=Synonymous_N57N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,30:30:75.25:1016,75,0:57:75:1.000 chr3 9908935 rs17222536 G A 2069.38 PASS BaseQRankSum=-0.005;DP=235;Dels=0.00;FS=1.633;HRun=0;HaplotypeScore=6.3313;MQ=51;MQ0=0;MQRankSum=2.623;QD=8.81;ReadPosRankSum=-1.181;SB=-1368.93;TI=NM_001199623,NM_022094,NM_001199551,NM_001199552;GI=CIDEC,CIDEC,CIDEC,CIDEC;FC=Synonymous_H213H,Synonymous_H200H,Synonymous_H210H,Synonymous_H200H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:144,91:235:99:2099,0,3371:51:99:0.387 chr3 9918861 rs456168 C A 2106.26 PASS BaseQRankSum=1.046;DP=186;Dels=0.00;FS=4.209;HRun=1;HaplotypeScore=5.6185;MQ=56;MQ0=0;MQRankSum=0.485;QD=11.32;ReadPosRankSum=-0.948;SB=-1514.62;TI=NM_001199623,NM_022094,NM_001199551,NM_001199552;GI=CIDEC,CIDEC,CIDEC,CIDEC;FC=Synonymous_L45L,Synonymous_L32L,Synonymous_L32L,Synonymous_L32L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,95:186:99:2136,0,2024:56:99:0.511 chr3 9976159 rs279552 A G 4938.86 PASS BaseQRankSum=1.654;DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.2232;MQ=53;MQ0=0;MQRankSum=1.479;QD=27.59;ReadPosRankSum=1.323;SB=-2485.10;TI=NM_015513,NM_001077415,NM_001031717;GI=CRELD1,CRELD1,CRELD1;FC=Missense_M13V,Missense_M13V,Missense_M13V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,177:179:99:4939,361,0:53:99:0.994 chr3 10088299 rs73126214 C T 236.27 PASS BaseQRankSum=1.283;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46;MQ0=0;MQRankSum=-4.532;QD=2.88;ReadPosRankSum=-1.507;SB=-124.37;TI=NM_033084,NM_001018115;GI=FANCD2,FANCD2;FC=Synonymous_S390S,Synonymous_S390S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,18:82:99:266,0,1609:46:99:0.220 chr3 10088308 rs72492998 T C 233.27 PASS BaseQRankSum=2.337;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=46;MQ0=0;MQRankSum=-4.370;QD=2.81;ReadPosRankSum=-0.481;SB=-127.37;TI=NM_033084,NM_001018115;GI=FANCD2,FANCD2;FC=Synonymous_T393T,Synonymous_T393T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,18:83:99:263,0,1616:46:99:0.217 chr3 10088343 rs73126218 A G 301.05 PASS BaseQRankSum=0.271;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=44;MQ0=2;MQRankSum=-4.627;QD=3.31;ReadPosRankSum=-0.033;SB=-170.69;TI=NM_033084,NM_001018115;GI=FANCD2,FANCD2;FC=Missense_N405S,Missense_N405S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,22:91:99:331,0,1794:44:99:0.242 chr3 10142949 rs3172417 C T 1127.88 PASS DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48;MQ0=0;QD=26.23;SB=-737.03;TI=NM_001018115,NM_173472;GI=FANCD2,C3orf24;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,43:43:84.27:1161,84,0:48:84:1.000 chr3 10885920 rs2304725 T C 2391.59 PASS DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.14;SB=-1357.85;TI=NM_014229;GI=SLC6A11;FC=Synonymous_S215S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2425,175,0:54:99:1.000 chr3 10975745 rs2272399 C T 3295.86 PASS DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=27.02;SB=-2204.13;TI=NM_014229;GI=SLC6A11;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3296,235,0:53:99:1.000 chr3 11596302 rs2305295 T C 3956.23 PASS DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4324;MQ=52;MQ0=0;QD=27.67;SB=-2632.12;TI=NM_006395,NM_001144912,NM_001136031;GI=ATG7,ATG7,ATG7;FC=Synonymous_D699D,Synonymous_D619D,Synonymous_D672D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:143:99:3956,283,0:52:99:1.000 chr3 12475557 rs3856806 C T 919.62 PASS BaseQRankSum=0.496;DP=114;Dels=0.00;FS=7.924;HRun=0;HaplotypeScore=0.9998;MQ=53;MQ0=0;MQRankSum=2.582;QD=8.07;ReadPosRankSum=0.863;SB=-342.45;TI=NM_138712,NM_005037,NM_138711,NM_015869;GI=PPARG,PPARG,PPARG,PPARG;FC=Synonymous_H449H,Synonymous_H449H,Synonymous_H449H,Synonymous_H477H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,38:114:99:950,0,1746:53:99:0.333 chr3 13896140 rs3762719 A G 2544.60 PASS BaseQRankSum=3.197;DP=202;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5993;MQ=57;MQ0=0;MQRankSum=2.980;QD=12.60;ReadPosRankSum=0.255;SB=-1595.96;TI=NM_004625;GI=WNT7A;FC=Synonymous_S153S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,101:202:99:2575,0,2541:57:99:0.500 chr3 13896284 rs12639607 C T 1219.09 PASS BaseQRankSum=0.137;DP=90;Dels=0.00;FS=0.909;HRun=0;HaplotypeScore=1.7333;MQ=56;MQ0=0;MQRankSum=1.929;QD=13.55;ReadPosRankSum=-1.880;SB=-434.80;TI=NM_004625;GI=WNT7A;FC=Synonymous_A105A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,45:90:99:1249,0,1198:56:99:0.500 chr3 14174427 rs4685076 A T 1891.83 PASS BaseQRankSum=-0.299;DP=167;Dels=0.00;FS=0.582;HRun=0;HaplotypeScore=7.2035;MQ=56;MQ0=0;MQRankSum=-0.147;QD=11.33;ReadPosRankSum=-2.108;SB=-1087.22;TI=NM_024334;GI=TMEM43;FC=Missense_K168N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,78:167:99:1922,0,2120:56:99:0.470 chr3 14175262 rs2340917 T C 916.97 PASS BaseQRankSum=0.014;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.233;QD=11.05;ReadPosRankSum=0.151;SB=-555.03;TI=NM_024334;GI=TMEM43;FC=Missense_M179T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,39:83:99:947,0,1055:52:99:0.470 chr3 14186757 rs1126547 C G 1815.01 PASS DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=30.76;SB=-627.29;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1848,135,0:55:99:1.000 chr3 14187449 rs2228001 G T 848.57 PASS BaseQRankSum=-0.615;DP=57;Dels=0.00;FS=5.894;HRun=1;HaplotypeScore=2.8863;MQ=58;MQ0=0;MQRankSum=0.854;QD=14.89;ReadPosRankSum=0.279;SB=-47.49;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Missense_Q939K,Missense_Q902K,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,28:57:99:879,0,902:58:99:0.491 chr3 14190237 rs2279017 T G 1258.29 PASS BaseQRankSum=3.822;DP=98;Dels=0.00;FS=0.759;HRun=1;HaplotypeScore=6.4697;MQ=58;MQ0=0;MQRankSum=1.368;QD=12.84;ReadPosRankSum=0.307;SB=-729.12;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,47:98:99:1288,0,1474:58:99:0.485 chr3 14193889 rs2227998 C T 824.48 PASS BaseQRankSum=0.079;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4383;MQ=47;MQ0=0;MQRankSum=-0.146;QD=8.68;ReadPosRankSum=3.091;SB=-498.15;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Synonymous_R687R,Synonymous_R650R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,42:95:99:854,0,1125:47:99:0.442 chr3 14197987 rs2958057 A T 4826.51 PASS DP=165;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=9.3420;MQ=53;MQ0=0;QD=29.25;SB=-3042.35;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Synonymous_A627A,Synonymous_A590A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,164:165:99:4826,349,0:53:99:1.000 chr3 14220095 rs2607775 C G 1124.03 PASS BaseQRankSum=0.636;DP=81;Dels=0.00;FS=1.884;HRun=1;HaplotypeScore=5.1168;MQ=54;MQ0=0;MQRankSum=-0.665;QD=13.88;ReadPosRankSum=-1.555;SB=-770.56;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,47:81:99:1154,0,779:54:99:0.580 chr3 16636093 rs35729175 TA T 136.43 R8 BaseQRankSum=0.348;DP=33;FS=0.000;HRun=14;HaplotypeScore=101.3269;MQ=54;MQ0=0;MQRankSum=0.209;QD=4.13;ReadPosRankSum=0.627;SB=-39.94;TI=NM_001190811,NM_001351;GI=DAZL,DAZL;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,9:33:99:175,0,273:54:99:0.321 chr3 27763427 rs1874198 G GCGGCGC 583.60 LowDP BaseQRankSum=-3.127;DP=17;FS=1.957;HRun=0;HaplotypeScore=22.8592;MQ=56;MQ0=0;MQRankSum=0.625;QD=34.33;ReadPosRankSum=-0.722;SB=-253.13;TI=NM_005442;GI=EOMES;FC=2AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,7:17:99:623,0,773:56:99:0.438 chr3 30713911 . C T 5.92 LowGQX;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.804;QD=2.96;ReadPosRankSum=0.804;SB=-0.01;TI=NM_001024847,NM_003242;GI=TGFBR2,TGFBR2;FC=Synonymous_D437D,Synonymous_D412D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:34.63:35,0,35:60:6:0.500 chr3 33055721 rs4302331 A G 1599.84 PASS DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5563;MQ=54;MQ0=0;QD=29.09;SB=-698.81;TI=NM_001079811,NM_000404,NM_001135602;GI=GLB1,GLB1,GLB1;FC=Missense_C491R,Missense_C521R,Missense_C390R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1633,123,0:54:99:1.000 chr3 33138544 rs7614776 A G 1155.59 PASS DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=25.68;SB=-841.76;TI=NM_000404,NM_001135602;GI=GLB1,GLB1;FC=Synonymous_L12L,Synonymous_L12L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,45:45:84.28:1189,84,0:51:84:1.000 chr3 33155782 rs11558338 G A 1400.65 PASS BaseQRankSum=0.473;DP=94;Dels=0.00;FS=2.890;HRun=0;HaplotypeScore=2.5584;MQ=55;MQ0=0;MQRankSum=1.153;QD=14.90;ReadPosRankSum=-1.637;SB=-743.28;TI=NM_006371;GI=CRTAP;FC=Synonymous_L71L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,55:94:99:1431,0,837:55:99:0.591 chr3 33161898 rs4076086 C T 1517.28 PASS BaseQRankSum=2.922;DP=135;Dels=0.00;FS=0.660;HRun=0;HaplotypeScore=12.9631;MQ=55;MQ0=0;MQRankSum=0.611;QD=11.24;ReadPosRankSum=1.519;SB=-842.09;TI=NM_006371;GI=CRTAP;FC=Synonymous_D178D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,63:135:99:1547,0,1800:55:99:0.467 chr3 37053568 rs1799977 A G 838.56 PASS BaseQRankSum=1.532;DP=67;Dels=0.00;FS=0.981;HRun=0;HaplotypeScore=4.7736;MQ=58;MQ0=0;MQRankSum=-0.107;QD=12.52;ReadPosRankSum=-1.847;SB=-323.12;TI=NM_000249,NM_001167619,NM_001167618,NM_001167617;GI=MLH1,MLH1,MLH1,MLH1;FC=Missense_I219V,Silent,Silent,Missense_I121V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,30:67:99:869,0,952:58:99:0.448 chr3 38350479 rs818819 T C 4445.02 PASS DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=55;MQ0=0;QD=28.31;SB=-2462.52;TI=NM_004803;GI=SLC22A14;FC=Synonymous_H270H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,157:157:99:4445,322,0:55:99:1.000 chr3 38350519 rs818818 G A 5964.13 PASS BaseQRankSum=1.389;DP=233;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5484;MQ=54;MQ0=0;MQRankSum=0.493;QD=25.60;ReadPosRankSum=0.627;SB=-4154.45;TI=NM_004803;GI=SLC22A14;FC=Missense_V284M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,231:233:99:5964,390,0:54:99:0.996 chr3 38350543 rs818817 A G 6639.63 PASS BaseQRankSum=-0.466;DP=260;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4891;MQ=52;MQ0=0;MQRankSum=-1.332;QD=25.54;ReadPosRankSum=-0.386;SB=-4516.17;TI=NM_004803;GI=SLC22A14;FC=Missense_S292G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,259:260:99:6640,432,0:52:99:0.996 chr3 38355225 rs73064822 G A 1723.04 PASS BaseQRankSum=0.390;DP=130;Dels=0.00;FS=2.532;HRun=0;HaplotypeScore=19.1564;MQ=45;MQ0=0;MQRankSum=2.911;QD=13.25;ReadPosRankSum=-0.866;SB=-476.10;TI=NM_004803;GI=SLC22A14;FC=Missense_V391I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,60:130:99:1753,0,1722:45:99:0.465 chr3 38357817 rs2070492 C T 1515.68 PASS BaseQRankSum=0.307;DP=109;Dels=0.00;FS=5.894;HRun=0;HaplotypeScore=4.5623;MQ=57;MQ0=0;MQRankSum=0.398;QD=13.91;ReadPosRankSum=1.127;SB=-564.77;TI=NM_004803;GI=SLC22A14;FC=Missense_A512V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,58:109:99:1546,0,1536:57:99:0.532 chr3 38519424 rs2070489 A G 474.15 PASS BaseQRankSum=0.808;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3238;MQ=55;MQ0=0;MQRankSum=0.527;QD=7.08;ReadPosRankSum=1.515;SB=-337.35;TI=NM_001106;GI=ACVR2B;FC=Synonymous_E111E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,22:67:99:504,0,1098:55:99:0.328 chr3 38524742 rs1046048 C T 1187.65 PASS BaseQRankSum=1.547;DP=140;Dels=0.00;FS=5.264;HRun=0;HaplotypeScore=3.7603;MQ=49;MQ0=0;MQRankSum=-0.621;QD=8.48;ReadPosRankSum=-0.840;SB=-817.02;TI=NM_001106;GI=ACVR2B;FC=Synonymous_N486N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,60:140:99:1218,0,1737:49:99:0.429 chr3 38622467 rs7430407 T C 1417.81 PASS DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=58;MQ0=0;QD=33.76;SB=-318.90;TI=NM_198056,NM_000335,NM_001099405,NM_001099404,NM_001160160,NM_001160161;GI=SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A;FC=Synonymous_E1061E,Synonymous_E1061E,Synonymous_E1061E,Synonymous_E1061E,Synonymous_E1061E,Synonymous_E1061E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:42:99:1451,108,0:58:99:1.000 chr3 38674712 rs6599230 T C 2117.68 PASS BaseQRankSum=0.482;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3641;MQ=57;MQ0=0;MQRankSum=0.103;QD=16.04;ReadPosRankSum=-2.525;SB=-1197.31;TI=NM_198056,NM_000335,NM_001099405,NM_001099404,NM_001160160,NM_001160161;GI=SCN5A,SCN5A,SCN5A,SCN5A,SCN5A,SCN5A;FC=Synonymous_A29A,Synonymous_A29A,Synonymous_A29A,Synonymous_A29A,Synonymous_A29A,Synonymous_A29A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,72:132:99:2148,0,1669:57:99:0.545 chr3 38739574 rs6599241 T C 2296.40 PASS DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=52;MQ0=0;QD=30.22;SB=-1230.22;TI=NM_006514;GI=SCN10A;FC=Missense_M1713V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2329,169,0:52:99:1.000 chr3 38739845 rs6599242 A G 683.05 PASS DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.05;SB=-241.27;TI=NM_006514;GI=SCN10A;FC=Synonymous_S1622S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,22:22:54.16:716,54,0:56:54:1.000 chr3 38766675 rs6795970 A G 4166.61 PASS BaseQRankSum=0.474;DP=301;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=11.9413;MQ=56;MQ0=0;MQRankSum=1.564;QD=13.84;ReadPosRankSum=-2.110;SB=-2517.44;TI=NM_006514;GI=SCN10A;FC=Missense_V1073A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:138,163:301:99:4167,0,3646:56:99:0.542 chr3 38768247 rs59468016 G A 1811.52 PASS BaseQRankSum=1.586;DP=131;Dels=0.00;FS=0.662;HRun=0;HaplotypeScore=5.4413;MQ=56;MQ0=0;MQRankSum=1.590;QD=13.83;ReadPosRankSum=1.853;SB=-878.38;TI=NM_006514;GI=SCN10A;FC=Synonymous_G979G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,66:131:99:1842,0,1590:56:99:0.504 chr3 38768300 rs57326399 T C 1765.47 PASS BaseQRankSum=0.412;DP=119;Dels=0.00;FS=1.470;HRun=0;HaplotypeScore=3.6817;MQ=55;MQ0=0;MQRankSum=1.220;QD=14.84;ReadPosRankSum=0.837;SB=-943.29;TI=NM_006514;GI=SCN10A;FC=Missense_I962V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,61:119:99:1795,0,1540:55:99:0.513 chr3 38784029 rs6599250 T C 1321.57 PASS BaseQRankSum=1.249;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9149;MQ=53;MQ0=0;MQRankSum=-0.970;QD=11.59;ReadPosRankSum=-0.896;SB=-443.95;TI=NM_006514;GI=SCN10A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,52:114:99:1352,0,1641:53:99:0.456 chr3 38793989 rs7617919 G A 1472.27 PASS BaseQRankSum=-0.048;DP=105;Dels=0.00;FS=2.660;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=1.144;QD=14.02;ReadPosRankSum=-0.841;SB=-772.96;TI=NM_006514;GI=SCN10A;FC=Synonymous_L492L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,58:105:99:1502,0,1139:54:99:0.552 chr3 38798171 rs62244070 C T 2065.91 PASS BaseQRankSum=3.347;DP=137;Dels=0.00;FS=1.514;HRun=1;HaplotypeScore=7.4690;MQ=55;MQ0=0;MQRankSum=0.774;QD=15.08;ReadPosRankSum=1.026;SB=-816.97;TI=NM_006514;GI=SCN10A;FC=Synonymous_E428E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,77:137:99:2096,0,1485:55:99:0.562 chr3 38835457 rs34314583 G A 2227.54 PASS BaseQRankSum=-0.612;DP=197;Dels=0.00;FS=0.538;HRun=3;HaplotypeScore=5.4702;MQ=55;MQ0=0;MQRankSum=-1.678;QD=11.31;ReadPosRankSum=-1.243;SB=-1217.36;TI=NM_006514;GI=SCN10A;FC=Synonymous_R15R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,93:197:99:2258,0,2748:55:99:0.472 chr3 39307162 rs3732378 G A 795.64 PASS BaseQRankSum=0.918;DP=57;Dels=0.00;FS=1.026;HRun=0;HaplotypeScore=6.5706;MQ=57;MQ0=0;MQRankSum=1.173;QD=13.96;ReadPosRankSum=-1.141;SB=-429.53;TI=NM_001337,NM_001171172,NM_001171171,NM_001171174;GI=CX3CR1,CX3CR1,CX3CR1,CX3CR1;FC=Missense_T280M,Missense_T280M,Missense_T280M,Missense_T312M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,28:57:99:826,0,852:57:99:0.491 chr3 39307256 rs3732379 C T 1328.84 PASS DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6557;MQ=57;MQ0=0;QD=33.22;SB=-614.49;TI=NM_001337,NM_001171172,NM_001171171,NM_001171174;GI=CX3CR1,CX3CR1,CX3CR1,CX3CR1;FC=Missense_V249I,Missense_V249I,Missense_V249I,Missense_V281I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:40:99:1362,105,0:57:99:1.000 chr3 39323163 rs11715522 A C 1487.95 PASS BaseQRankSum=2.891;DP=128;Dels=0.00;FS=4.300;HRun=0;HaplotypeScore=5.4290;MQ=51;MQ0=0;MQRankSum=0.127;QD=11.62;ReadPosRankSum=0.074;SB=-1046.88;TI=NM_001171174;GI=CX3CR1;FC=Missense_F8L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,68:128:99:1518,0,1373:51:99:0.531 chr3 39431081 rs2270770;rs11542886 G A 1691.58 PASS BaseQRankSum=-0.508;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7495;MQ=53;MQ0=0;MQRankSum=1.095;QD=14.71;ReadPosRankSum=-2.833;SB=-1142.65;TI=NM_017875;GI=SLC25A38;FC=Synonymous_L55L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,75:115:99:1722,0,956:53:99:0.652 chr3 42305131 rs754635 C G 2451.62 PASS DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=58;MQ0=0;QD=31.03;SB=-585.07;TI=NM_001174138,NM_000729;GI=CCK,CCK;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2485,190,0:58:99:1.000 chr3 43121559 rs604033 C T 1548.45 PASS DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1094;MQ=56;MQ0=0;QD=29.22;SB=-722.33;TI=NM_032806;GI=C3orf39;FC=Synonymous_P455P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:53:99:1581,117,0:56:99:1.000 chr3 43414318 rs6441771 A G 3708.46 PASS DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=52;MQ0=0;QD=28.53;SB=-1987.05;TI=NM_018075;GI=ANO10;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:3708,268,0:52:99:1.000 chr3 43602803 rs3772165 C T 2589.48 PASS DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=28.15;SB=-1697.55;TI=NM_018075;GI=ANO10;FC=Missense_R462Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2622,190,0:55:99:1.000 chr3 43607136 rs7616708 T C 1313.00 PASS DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6207;MQ=52;MQ0=0;QD=28.54;SB=-639.22;TI=NM_018075;GI=ANO10;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:99:1346,102,0:52:99:1.000 chr3 45527218 rs7610357 T C 1340.98 PASS DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=51;MQ0=0;QD=27.94;SB=-705.56;TI=NM_015340;GI=LARS2;FC=Synonymous_L351L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:99:1374,99,0:51:99:1.000 chr3 45533224 rs2128361 G A 4611.06 PASS DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6415;MQ=53;MQ0=0;QD=28.46;SB=-3020.45;TI=NM_015340;GI=LARS2;FC=Synonymous_A485A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,162:162:99:4611,331,0:53:99:1.000 chr3 45557707 rs11549809 G A 2383.28 PASS BaseQRankSum=0.730;DP=167;Dels=0.00;FS=1.966;HRun=1;HaplotypeScore=2.7605;MQ=53;MQ0=0;MQRankSum=1.381;QD=14.27;ReadPosRankSum=0.154;SB=-1386.15;TI=NM_015340;GI=LARS2;FC=Synonymous_T661T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,96:167:99:2413,0,1922:53:99:0.575 chr3 45559519 rs2170549 T C 6001.63 PASS DP=209;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4050;MQ=56;MQ0=0;QD=28.72;SB=-3178.48;TI=NM_015340;GI=LARS2;FC=Synonymous_A723A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,209:209:99:6002,430,0:56:99:1.000 chr3 45565554 rs267220 A G 3195.79 PASS DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;QD=28.79;SB=-1988.90;TI=NM_015340;GI=LARS2;FC=Synonymous_V786V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,111:111:99:3229,232,0:52:99:1.000 chr3 45813993 rs2276858 G A 860.05 PASS BaseQRankSum=-0.475;DP=63;Dels=0.00;FS=2.309;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=1.576;QD=13.65;ReadPosRankSum=0.227;SB=-355.61;TI=NM_020208,NM_022405;GI=SLC6A20,SLC6A20;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,33:63:99:890,0,870:55:99:0.524 chr3 45817418 rs758386 A G 5863.11 PASS DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3483;MQ=53;MQ0=0;QD=28.32;SB=-3997.59;TI=NM_020208,NM_022405;GI=SLC6A20,SLC6A20;FC=Synonymous_C139C,Synonymous_C139C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,207:207:99:5863,424,0:53:99:1.000 chr3 45996761 rs1463680 G A 3026.34 PASS DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8939;MQ=53;MQ0=0;QD=26.78;SB=-1883.77;TI=NM_024513;GI=FYCO1;FC=Synonymous_L1308L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3059,217,0:53:99:1.000 chr3 46007823 rs13079478 G T 54.09 LowDP BaseQRankSum=0.061;DP=16;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.061;QD=3.38;ReadPosRankSum=-0.788;SB=-31.63;TI=NM_024513;GI=FYCO1;FC=Missense_N1001K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,4:16:84.08:84,0,369:60:54:0.250 chr3 46007825 rs13059238;rs71622515 T C 56.94 LowDP BaseQRankSum=1.880;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.182;QD=3.56;ReadPosRankSum=-0.667;SB=-31.62;TI=NM_024513;GI=FYCO1;FC=Missense_N1001D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,4:16:86.93:87,0,364:60:57:0.250 chr3 46008087 rs13079869 G A 1916.97 PASS BaseQRankSum=2.237;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=54;MQ0=0;MQRankSum=1.388;QD=11.69;ReadPosRankSum=2.191;SB=-835.88;TI=NM_024513;GI=FYCO1;FC=Synonymous_C913C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,78:164:99:1947,0,2367:54:99:0.476 chr3 46008790 rs3796375 G A 1827.24 PASS BaseQRankSum=-0.240;DP=128;Dels=0.00;FS=2.269;HRun=0;HaplotypeScore=4.5658;MQ=55;MQ0=0;MQRankSum=-0.197;QD=14.28;ReadPosRankSum=0.523;SB=-1039.06;TI=NM_024513;GI=FYCO1;FC=Missense_A679V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,71:128:99:1857,0,1599:55:99:0.555 chr3 46009487 rs33910087 G A 3774.49 PASS BaseQRankSum=1.738;DP=284;Dels=0.00;FS=8.485;HRun=0;HaplotypeScore=6.5148;MQ=56;MQ0=0;MQRankSum=1.664;QD=13.29;ReadPosRankSum=-0.096;SB=-2155.71;TI=NM_024513;GI=FYCO1;FC=Missense_R447C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:140,144:284:99:3774,0,3859:56:99:0.507 chr3 46009864 rs3733100 C G 4956.92 PASS BaseQRankSum=1.708;DP=142;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.5681;MQ=58;MQ0=0;MQRankSum=-1.511;QD=34.91;ReadPosRankSum=-0.700;SB=-1882.48;TI=NM_024513;GI=FYCO1;FC=Missense_G321A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,140:142:99:4957,376,0:58:99:0.993 chr3 46010007 rs13071283 T C 3219.44 PASS BaseQRankSum=0.353;DP=238;Dels=0.00;FS=2.936;HRun=0;HaplotypeScore=8.0412;MQ=54;MQ0=0;MQRankSum=2.361;QD=13.53;ReadPosRankSum=1.188;SB=-1804.17;TI=NM_024513;GI=FYCO1;FC=Synonymous_Q273Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,122:238:99:3249,0,2865:54:99:0.513 chr3 46010077 rs4683158 C T 6131.53 PASS DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2312;MQ=56;MQ0=0;QD=30.20;SB=-3494.07;TI=NM_024513;GI=FYCO1;FC=Missense_R250Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,202:203:99:6132,448,0:56:99:1.000 chr3 46021218 rs4682801 G T 1139.23 PASS BaseQRankSum=1.650;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=1.650;QD=27.12;ReadPosRankSum=1.155;SB=-781.95;TI=NM_024513;GI=FYCO1;FC=Synonymous_R89R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,41:42:84.27:1172,84,0:57:84:0.976 chr3 46306700 rs4987053 T C 238.32 PASS BaseQRankSum=0.434;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=2.580;QD=7.69;ReadPosRankSum=-1.837;SB=-129.48;TI=NM_001837,NM_001164680,NM_178328,NM_178329;GI=CCR3,CCR3,CCR3,CCR3;FC=Synonymous_Y17Y,Synonymous_Y35Y,Synonymous_Y38Y,Synonymous_Y17Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,11:31:99:268,0,553:56:99:0.355 chr3 46399798 rs1799865 T C 2126.60 PASS BaseQRankSum=0.675;DP=189;Dels=0.00;FS=4.742;HRun=0;HaplotypeScore=8.3292;MQ=56;MQ0=0;MQRankSum=1.709;QD=11.25;ReadPosRankSum=-0.084;SB=-677.26;TI=NM_001123396,NM_001123041;GI=CCR2,CCR2;FC=Synonymous_N260N,Synonymous_N260N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,83:189:99:2157,0,3060:56:99:0.441 chr3 46449978 rs11266744 A C 7082.56 PASS BaseQRankSum=1.649;DP=250;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2206;MQ=54;MQ0=0;MQRankSum=0.374;QD=28.33;ReadPosRankSum=-0.679;SB=-4750.69;TI=NM_003965,NM_001130910;GI=CCRL2,CCRL2;FC=Synonymous_G136G,Synonymous_G148G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,249:250:99:7083,509,0:54:99:0.996 chr3 46450070 rs3204849 T A 4158.38 PASS DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9664;MQ=56;MQ0=0;QD=34.65;SB=-1921.01;TI=NM_003965,NM_001130910;GI=CCRL2,CCRL2;FC=Missense_F167Y,Missense_F179Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:120:99:4158,310,0:56:99:1.000 chr3 46480801 rs9110 A G 2392.82 PASS BaseQRankSum=-0.559;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.8496;MQ=56;MQ0=0;MQRankSum=1.111;QD=12.73;ReadPosRankSum=1.551;SB=-986.82;TI=NM_001199149,NM_002343;GI=LTF,LTF;FC=Synonymous_L588L,Synonymous_L632L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,96:188:99:2423,0,2355:56:99:0.511 chr3 46480958 rs2073495 C G 2053.91 PASS BaseQRankSum=0.378;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=56;MQ0=0;MQRankSum=-0.564;QD=13.60;ReadPosRankSum=1.450;SB=-904.33;TI=NM_001199149,NM_002343;GI=LTF,LTF;FC=Missense_E535D,Missense_E579D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,78:151:99:2084,0,1905:56:99:0.517 chr3 46482980 rs17285324 A T 800.94 PASS BaseQRankSum=-0.334;DP=82;Dels=0.00;FS=0.839;HRun=1;HaplotypeScore=5.5758;MQ=52;MQ0=0;MQRankSum=2.574;QD=9.77;ReadPosRankSum=0.824;SB=-546.49;TI=NM_001199149,NM_002343;GI=LTF,LTF;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,34:82:99:831,0,1178:52:99:0.415 chr3 46484964 rs1042073 G A 3396.55 PASS DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8640;MQ=53;MQ0=0;QD=28.30;SB=-2106.98;TI=NM_001199149,NM_002343;GI=LTF,LTF;FC=Synonymous_N497N,Synonymous_N541N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:120:99:3397,244,0:53:99:1.000 chr3 46488854 rs2239692 T C 2752.98 PASS DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.5423;MQ=50;MQ0=0;QD=25.49;SB=-2070.70;TI=NM_001199149,NM_002343;GI=LTF,LTF;FC=Synonymous_G372G,Synonymous_G416G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:108:99:2786,199,0:50:99:1.000 chr3 46490366 rs2230895 G A 4879.94 PASS BaseQRankSum=1.580;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7818;MQ=53;MQ0=0;MQRankSum=-0.933;QD=26.81;ReadPosRankSum=0.324;SB=-3019.06;TI=NM_001199149,NM_002343;GI=LTF,LTF;FC=Synonymous_I356I,Synonymous_I400I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,181:182:99:4880,317,0:53:99:0.995 chr3 46490474 rs2230894 G A 6208.77 PASS BaseQRankSum=-1.457;DP=239;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5872;MQ=53;MQ0=0;MQRankSum=-1.703;QD=25.98;ReadPosRankSum=-1.239;SB=-4385.26;TI=NM_001199149,NM_002343;GI=LTF,LTF;FC=Synonymous_V320V,Synonymous_V364V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,238:239:99:6209,408,0:53:99:0.996 chr3 46501213 rs1126478 T C 2584.36 PASS DP=96;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=8.5830;MQ=52;MQ0=0;QD=26.92;SB=-1705.43;TI=NM_001199149,NM_002343;GI=LTF,LTF;FC=Missense_K3R,Missense_K47R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:2617,187,0:52:99:1.000 chr3 46501268 rs1126477 C T 2584.49 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.49;SB=-1539.45;TI=NM_001199149,NM_002343;GI=LTF,LTF;FC=Silent,Missense_A29T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2617,187,0:53:99:1.000 chr3 46501284 rs10662431 C CCTT 3565.33 PASS DP=65;FS=0.000;HRun=0;HaplotypeScore=475.9966;MQ=56;MQ0=0;QD=54.85;SB=-1327.74;TI=NM_001199149,NM_002343;GI=LTF,LTF;FC=Noncoding,1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:6,57:65:99:3565,178,0:56:99:0.905 chr3 46620614 rs11130097 T C 1637.20 PASS BaseQRankSum=0.038;DP=128;Dels=0.00;FS=0.705;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=1.806;QD=12.79;ReadPosRankSum=0.810;SB=-776.11;TI=NM_001174136,NM_003212;GI=TDGF1,TDGF1;FC=Missense_V6A,Missense_V22A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,65:128:99:1667,0,1501:55:99:0.508 chr3 46713457 rs7625303 C G 1683.37 PASS BaseQRankSum=0.567;DP=140;Dels=0.00;FS=1.356;HRun=1;HaplotypeScore=4.4430;MQ=54;MQ0=0;MQRankSum=1.221;QD=12.02;ReadPosRankSum=0.704;SB=-990.86;TI=NM_182775,NM_001190707,NM_147129,NR_033815;GI=ALS2CL,ALS2CL,ALS2CL,ALS2CL;FC=Synonymous_T214T,Synonymous_T867T,Synonymous_T867T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,69:140:99:1713,0,1877:54:99:0.493 chr3 46729757 rs7642448 C G 2214.45 PASS BaseQRankSum=1.755;DP=164;Dels=0.00;FS=5.500;HRun=0;HaplotypeScore=14.7842;MQ=55;MQ0=0;MQRankSum=2.781;QD=13.50;ReadPosRankSum=0.544;SB=-535.72;TI=NM_001190707,NM_147129,NR_033815;GI=ALS2CL,ALS2CL,ALS2CL;FC=Missense_E45Q,Missense_E45Q,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,80:164:99:2244,0,2221:55:99:0.488 chr3 46751073 . TAAG T 608.79 R8 BaseQRankSum=0.196;DP=32;FS=3.696;HRun=0;HaplotypeScore=21.8868;MQ=56;MQ0=0;MQRankSum=0.633;QD=19.02;ReadPosRankSum=-0.502;SB=-130.14;TI=NM_147196;GI=TMIE;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,14:32:99:648,0,633:56:99:0.452 chr3 46939575 . C A 1550.27 PASS BaseQRankSum=-1.278;DP=112;Dels=0.00;FS=2.501;HRun=0;HaplotypeScore=3.6814;MQ=55;MQ0=0;MQRankSum=0.975;QD=13.84;ReadPosRankSum=-0.428;SB=-856.67;TI=NM_000316,NM_001184744;GI=PTH1R,PTH1R;FC=Synonymous_R146R,Synonymous_R146R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,58:112:99:1580,0,1442:55:99:0.518 chr3 46944274 rs1138518 T C 1080.79 PASS BaseQRankSum=0.974;DP=103;Dels=0.00;FS=1.620;HRun=0;HaplotypeScore=4.6269;MQ=52;MQ0=0;MQRankSum=0.466;QD=10.49;ReadPosRankSum=1.667;SB=-789.25;TI=NM_000316,NM_001184744;GI=PTH1R,PTH1R;FC=Synonymous_N463N,Synonymous_N463N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,49:103:99:1111,0,1308:52:99:0.476 chr3 47036756 rs11720139 C G 2867.39 PASS BaseQRankSum=0.487;DP=205;Dels=0.00;FS=4.289;HRun=1;HaplotypeScore=13.6531;MQ=57;MQ0=0;MQRankSum=0.543;QD=13.99;ReadPosRankSum=-1.332;SB=-1319.28;TI=NM_015175;GI=NBEAL2;FC=Missense_R511G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,106:205:99:2897,0,2862:57:99:0.517 chr3 47043538 rs2305634 C T 3789.44 PASS BaseQRankSum=0.716;DP=324;Dels=0.00;FS=1.865;HRun=2;HaplotypeScore=24.8604;MQ=56;MQ0=0;MQRankSum=0.676;QD=11.70;ReadPosRankSum=2.290;SB=-2499.10;TI=NM_015175;GI=NBEAL2;FC=Synonymous_S1637S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:160,163:324:99:3789,0,3863:56:99:0.505 chr3 47043622 rs2305635 G A 3380.87 PASS BaseQRankSum=0.115;DP=225;Dels=0.00;FS=1.737;HRun=0;HaplotypeScore=15.3040;MQ=56;MQ0=0;MQRankSum=0.177;QD=15.03;ReadPosRankSum=-0.135;SB=-1475.65;TI=NM_015175;GI=NBEAL2;FC=Synonymous_V1665V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,120:225:99:3381,0,2801:56:99:0.536 chr3 47045739 rs1079276 C G 1240.23 PASS BaseQRankSum=2.461;DP=114;Dels=0.00;FS=8.703;HRun=0;HaplotypeScore=5.3432;MQ=53;MQ0=0;MQRankSum=-0.310;QD=10.88;ReadPosRankSum=-1.914;SB=-609.64;TI=NM_015175;GI=NBEAL2;FC=Synonymous_P2018P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,52:114:99:1270,0,1509:53:99:0.456 chr3 47125385 rs4082155 G A 867.78 PASS BaseQRankSum=0.059;DP=60;Dels=0.00;FS=2.346;HRun=0;HaplotypeScore=7.5637;MQ=57;MQ0=0;MQRankSum=0.133;QD=14.46;ReadPosRankSum=-0.680;SB=-407.39;TI=NM_014159;GI=SETD2;FC=Missense_P1962L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,31:60:99:898,0,792:57:99:0.517 chr3 47162661 rs6767907 A G 1948.99 PASS BaseQRankSum=4.694;DP=166;Dels=0.00;FS=1.230;HRun=1;HaplotypeScore=12.3395;MQ=58;MQ0=0;MQRankSum=1.103;QD=11.74;ReadPosRankSum=0.308;SB=-1098.78;TI=NM_014159;GI=SETD2;FC=Synonymous_N1155N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,72:166:99:1979,0,2737:58:99:0.434 chr3 47459679 rs12487736 C T 1966.41 PASS BaseQRankSum=-0.048;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5213;MQ=53;MQ0=0;MQRankSum=0.375;QD=11.85;ReadPosRankSum=-1.893;SB=-985.19;TI=NM_012235;GI=SCAP;FC=Missense_V798I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,85:166:99:1996,0,2072:53:99:0.512 chr3 47462200 rs900690 T C 3678.69 PASS DP=131;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8899;MQ=56;MQ0=0;QD=28.08;SB=-2109.71;TI=NM_012235;GI=SCAP;FC=Synonymous_G469G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3679,268,0:56:99:1.000 chr3 47467597 . C T 1973.90 PASS BaseQRankSum=-0.284;DP=186;Dels=0.00;FS=4.255;HRun=0;HaplotypeScore=4.5761;MQ=55;MQ0=0;MQRankSum=3.005;QD=10.61;ReadPosRankSum=1.523;SB=-1306.89;TI=NM_012235;GI=SCAP;FC=Missense_R267Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,87:186:99:2004,0,2484:55:99:0.468 chr3 48508585 rs11797 C T 3316.27 PASS BaseQRankSum=1.009;DP=267;Dels=0.00;FS=5.891;HRun=0;HaplotypeScore=16.5079;MQ=54;MQ0=0;MQRankSum=-0.340;QD=12.42;ReadPosRankSum=-0.818;SB=-1548.13;TI=NM_033629,NM_016381;GI=TREX1,TREX1;FC=Synonymous_Y177Y,Synonymous_Y232Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,125:267:99:3316,0,3558:54:99:0.470 chr3 48617213 rs2854400 A G 1412.82 PASS BaseQRankSum=0.673;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0629;MQ=54;MQ0=0;MQRankSum=0.058;QD=9.42;ReadPosRankSum=1.593;SB=-900.82;TI=NM_000094;GI=COL7A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,59:150:99:1443,0,2189:54:99:0.393 chr3 48625266 rs1264194 T C 6634.48 PASS BaseQRankSum=-1.338;DP=243;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5487;MQ=53;MQ0=0;MQRankSum=1.126;QD=27.30;ReadPosRankSum=1.753;SB=-4506.03;TI=NM_000094;GI=COL7A1;FC=Synonymous_P939P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,241:243:99:6634,437,0:53:99:0.992 chr3 48628014 rs2228561 G A 1138.89 PASS BaseQRankSum=2.084;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=1.887;QD=16.51;ReadPosRankSum=-1.887;SB=-722.99;TI=NM_000094;GI=COL7A1;FC=Missense_P595L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,42:69:99:1169,0,645:57:99:0.609 chr3 48672836 . G A 726.32 PASS BaseQRankSum=0.845;DP=53;Dels=0.00;FS=2.477;HRun=2;HaplotypeScore=2.7605;MQ=55;MQ0=0;MQRankSum=2.962;QD=13.70;ReadPosRankSum=-1.023;SB=-266.66;TI=NM_134426,NM_022911,NM_134263;GI=SLC26A6,SLC26A6,SLC26A6;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,27:53:99:756,0,712:55:99:0.509 chr3 49158763 rs74951356 C T 1337.74 PASS BaseQRankSum=-0.276;DP=119;Dels=0.00;FS=0.725;HRun=0;HaplotypeScore=19.3834;MQ=55;MQ0=0;MQRankSum=1.938;QD=11.24;ReadPosRankSum=-0.303;SB=-567.22;TI=NM_002292;GI=LAMB2;FC=Missense_A1765T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,54:119:99:1368,0,1440:55:99:0.462 chr3 49395673 rs17838762 GGCCGCC G 1774.40 PASS DP=47;FS=0.000;HRun=0;HaplotypeScore=68.0580;MQ=36;MQ0=0;QD=37.75;SB=-657.78;TI=NM_000581,NM_201397;GI=GPX1,GPX1;FC=2AA_Deletion,2AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:7,40:28:72.25:1816,72,0:36:72:0.851 chr3 49548008 rs2131107 C G 3881.78 PASS DP=142;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=6.4545;MQ=54;MQ0=0;QD=27.34;SB=-2313.25;TI=NM_001177643,NM_001177634,NM_001177638,NM_001177636,NM_001177642,NM_001177637,NM_001177644,NM_004393,NM_001177640,NM_001177641,NM_001177639,NM_001165928,NM_001177635;GI=DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1,DAG1;FC=Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W,Missense_S14W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,142:142:99:3882,283,0:54:99:1.000 chr3 49723735 . C G 170.44 PASS BaseQRankSum=0.116;DP=137;Dels=0.01;FS=2.359;HRun=0;HaplotypeScore=122.6191;MQ=35;MQ0=24;MQRankSum=-1.035;QD=1.24;ReadPosRankSum=3.912;SB=-72.08;TI=NM_020998;GI=MST1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,35:136:99:200,0,2104:35:99:0.261 chr3 49723784 rs9713651;rs77898053 C A 3697.29 PASS BaseQRankSum=1.514;DP=235;Dels=0.00;FS=18.779;HRun=0;HaplotypeScore=35.2402;MQ=39;MQ0=44;MQRankSum=4.834;QD=15.73;ReadPosRankSum=-1.434;SB=-1961.42;TI=NM_020998;GI=MST1;FC=Synonymous_P326P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,147:235:99:3697,0,625:39:99:0.628 chr3 49723823 rs7431215 A G 694.46 PASS BaseQRankSum=-0.502;DP=292;Dels=0.00;FS=25.044;HRun=1;HaplotypeScore=27.2389;MQ=41;MQ0=44;MQRankSum=-5.260;QD=2.38;ReadPosRankSum=-2.357;SB=-61.79;TI=NM_020998;GI=MST1;FC=Synonymous_T313T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:199,93:292:99:724,0,4755:41:99:0.318 chr3 49724808 rs3020779 T C 6137.17 PASS DP=215;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.1009;MQ=53;MQ0=0;QD=28.54;SB=-3451.12;TI=NM_020998;GI=MST1;FC=Synonymous_P153P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,213:215:99:6137,448,0:53:99:1.000 chr3 49726028 rs62262685 T C 1418.13 PASS BaseQRankSum=2.271;DP=184;Dels=0.00;FS=5.664;HRun=0;HaplotypeScore=6.5970;MQ=47;MQ0=7;MQRankSum=-6.616;QD=7.71;ReadPosRankSum=2.852;SB=-829.23;TI=NM_020998;GI=MST1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,87:184:99:1448,0,2581:47:99:0.473 chr3 49726070 rs62262686 G A 1355.89 PASS BaseQRankSum=1.282;DP=212;Dels=0.00;FS=12.625;HRun=0;HaplotypeScore=8.2583;MQ=45;MQ0=30;MQRankSum=-6.232;QD=6.40;ReadPosRankSum=-1.734;SB=-518.03;TI=NM_020998;GI=MST1;FC=Missense_P19S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,87:212:99:1386,0,2819:45:99:0.410 chr3 49924940 rs1062633 T C 4887.97 PASS DP=155;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.54;SB=-2890.98;TI=NM_002447;GI=MST1R;FC=Missense_R1335G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4888,358,0:56:99:1.000 chr3 49928691 rs7433231 T C 5171.34 PASS DP=183;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3097;MQ=52;MQ0=0;QD=28.26;SB=-2823.41;TI=NM_002447;GI=MST1R;FC=Missense_S1195G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,183:183:99:5171,373,0:52:99:1.000 chr3 49936102 rs2230590 T C 6556.76 PASS BaseQRankSum=1.212;DP=233;Dels=0.00;FS=3.512;HRun=0;HaplotypeScore=9.0383;MQ=55;MQ0=0;MQRankSum=-1.093;QD=28.14;ReadPosRankSum=1.658;SB=-3949.04;TI=NM_002447;GI=MST1R;FC=Missense_Q523R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,232:233:99:6557,444,0:55:99:0.996 chr3 49940078 rs2230593 C T 1125.79 PASS BaseQRankSum=1.544;DP=79;Dels=0.00;FS=3.109;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=1.927;QD=14.25;ReadPosRankSum=-0.534;SB=-591.01;TI=NM_002447;GI=MST1R;FC=Missense_R322Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,40:79:99:1156,0,996:53:99:0.506 chr3 50369546 rs2073498 C A 1799.59 PASS BaseQRankSum=-0.120;DP=158;Dels=0.00;FS=0.597;HRun=0;HaplotypeScore=2.7776;MQ=54;MQ0=0;MQRankSum=1.574;QD=11.39;ReadPosRankSum=-1.031;SB=-1125.88;TI=NM_170713,NM_170712,NM_007182,NM_170714;GI=RASSF1,RASSF1,RASSF1,RASSF1;FC=Missense_A63S,Silent,Missense_A133S,Missense_A137S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,78:158:99:1830,0,1967:54:99:0.494 chr3 50645793 rs77555465 C G 1894.82 PASS BaseQRankSum=1.983;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4941;MQ=55;MQ0=0;MQRankSum=1.190;QD=12.55;ReadPosRankSum=1.223;SB=-1154.72;TI=NM_145071,NM_013324;GI=CISH,CISH;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,78:151:99:1925,0,1835:55:99:0.517 chr3 51273773 rs1480361 T C 1883.97 PASS DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=28.55;SB=-1078.96;TI=NM_004947;GI=DOCK3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:66:99:1917,138,0:52:99:1.000 chr3 52256697 rs352140 C T 923.17 PASS BaseQRankSum=-0.059;DP=74;Dels=0.00;FS=0.891;HRun=0;HaplotypeScore=2.7714;MQ=57;MQ0=0;MQRankSum=1.476;QD=12.48;ReadPosRankSum=1.152;SB=-459.26;TI=NM_017442;GI=TLR9;FC=Synonymous_P545P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,36:74:99:953,0,1019:57:99:0.486 chr3 52325759 rs2276834 A G 578.57 PASS BaseQRankSum=-1.918;DP=52;Dels=0.00;FS=6.106;HRun=1;HaplotypeScore=4.4430;MQ=53;MQ0=0;MQRankSum=0.578;QD=11.13;ReadPosRankSum=0.321;SB=-415.44;TI=NM_001144951,NM_145262,NR_026701,NR_026702,NR_026700,NR_026699;GI=GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK,GLYCTK;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,28:52:99:609,0,663:53:99:0.538 chr3 52820981 rs678 A T 320.33 PASS BaseQRankSum=1.490;DP=43;Dels=0.00;FS=1.430;HRun=0;HaplotypeScore=0.9989;MQ=56;MQ0=0;MQRankSum=-0.635;QD=7.45;ReadPosRankSum=-0.117;SB=-87.56;TI=NM_002215,NM_001166434,NM_001166435,NM_001166436;GI=ITIH1,ITIH1,ITIH1,ITIH1;FC=Missense_E585V,Missense_E443V,Missense_E297V,Missense_E297V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,14:43:99:350,0,695:56:99:0.326 chr3 52821011 rs1042779 A G 514.26 PASS BaseQRankSum=-0.360;DP=64;Dels=0.00;FS=1.067;HRun=1;HaplotypeScore=7.2361;MQ=55;MQ0=0;MQRankSum=-0.799;QD=8.04;ReadPosRankSum=-0.756;SB=-205.05;TI=NM_002215,NM_001166434,NM_001166435,NM_001166436;GI=ITIH1,ITIH1,ITIH1,ITIH1;FC=Missense_Q595R,Missense_Q453R,Missense_Q307R,Missense_Q307R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,22:64:99:544,0,1062:55:99:0.344 chr3 52821992 rs68094128 CT C 949.02 PASS BaseQRankSum=2.652;DP=85;FS=0.000;HRun=1;HaplotypeScore=87.3275;MQ=56;MQ0=0;MQRankSum=2.689;QD=11.16;ReadPosRankSum=0.607;SB=-489.76;TI=NM_002215,NM_001166434,NM_001166435,NM_001166436;GI=ITIH1,ITIH1,ITIH1,ITIH1;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,30:85:99:988,0,2186:56:99:0.353 chr3 52825528 rs1075653 T C 921.27 PASS BaseQRankSum=1.447;DP=77;Dels=0.00;FS=0.992;HRun=1;HaplotypeScore=4.4704;MQ=55;MQ0=0;MQRankSum=-0.110;QD=11.96;ReadPosRankSum=-0.183;SB=-344.12;TI=NM_002215,NM_001166434,NM_001166435,NM_001166436;GI=ITIH1,ITIH1,ITIH1,ITIH1;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,34:77:99:951,0,1153:55:99:0.447 chr3 52825585 rs9324 T C 938.64 PASS BaseQRankSum=0.996;DP=112;Dels=0.00;FS=0.803;HRun=1;HaplotypeScore=10.2712;MQ=55;MQ0=0;MQRankSum=0.635;QD=8.38;ReadPosRankSum=1.686;SB=-331.29;TI=NM_002215,NM_001166434,NM_001166435,NM_001166436;GI=ITIH1,ITIH1,ITIH1,ITIH1;FC=Synonymous_S849S,Synonymous_S707S,Synonymous_S561S,Synonymous_S561S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,39:112:99:969,0,1893:55:99:0.348 chr3 52833805 rs3617 C A 4084.07 PASS BaseQRankSum=0.682;DP=275;Dels=0.00;FS=5.740;HRun=2;HaplotypeScore=7.2584;MQ=56;MQ0=0;MQRankSum=1.665;QD=14.85;ReadPosRankSum=0.688;SB=-2893.95;TI=NM_002217;GI=ITIH3;FC=Missense_Q315K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,168:275:99:4084,0,2462:56:99:0.611 chr3 52852060 rs2245538 T C 2369.22 PASS BaseQRankSum=1.879;DP=302;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=16.4997;MQ=51;MQ0=0;MQRankSum=-0.986;QD=7.85;ReadPosRankSum=0.169;SB=-1551.85;TI=NM_002218,NM_001166449;GI=ITIH4,ITIH4;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:188,114:302:99:2399,0,4365:51:99:0.377 chr3 52852538 rs4687657 G T 752.82 PASS BaseQRankSum=-0.445;DP=70;Dels=0.00;FS=2.080;HRun=1;HaplotypeScore=8.2781;MQ=55;MQ0=0;MQRankSum=2.000;QD=10.75;ReadPosRankSum=0.516;SB=-405.08;TI=NM_002218,NM_001166449;GI=ITIH4,ITIH4;FC=Missense_P698T,Missense_P668T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,30:70:99:783,0,1072:55:99:0.429 chr3 52860936 rs2276817 C T 1807.94 PASS BaseQRankSum=1.813;DP=142;Dels=0.00;FS=3.047;HRun=0;HaplotypeScore=9.0649;MQ=54;MQ0=0;MQRankSum=-0.295;QD=12.73;ReadPosRankSum=0.072;SB=-1019.45;TI=NM_002218,NM_001166449;GI=ITIH4,ITIH4;FC=Synonymous_V130V,Synonymous_V130V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,69:142:99:1838,0,2041:54:99:0.489 chr3 52861211 rs13072536 A T 1113.86 PASS BaseQRankSum=4.562;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7877;MQ=52;MQ0=0;MQRankSum=1.764;QD=10.13;ReadPosRankSum=-0.882;SB=-768.90;TI=NM_002218,NM_001166449;GI=ITIH4,ITIH4;FC=Missense_I85N,Missense_I85N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,47:110:99:1144,0,1470:52:99:0.427 chr3 52864584 rs2071042 A G 1995.18 PASS BaseQRankSum=-1.652;DP=160;Dels=0.00;FS=1.988;HRun=1;HaplotypeScore=11.0136;MQ=51;MQ0=0;MQRankSum=1.584;QD=12.47;ReadPosRankSum=-0.234;SB=-1292.59;TI=NM_002218,NM_001166449;GI=ITIH4,ITIH4;FC=Synonymous_T25T,Synonymous_T25T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,84:160:99:2025,0,1608:51:99:0.525 chr3 53125922 rs11242 T C 2966.48 PASS BaseQRankSum=-0.078;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4702;MQ=53;MQ0=0;MQRankSum=-0.296;QD=26.73;ReadPosRankSum=0.577;SB=-1720.00;TI=NM_052859;GI=RFT1;FC=Synonymous_T541T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,110:111:99:2999,182,0:53:99:0.991 chr3 53700550 rs2250736 T C 6435.26 PASS DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=29.12;SB=-4163.78;TI=NM_001128839,NM_001128840,NM_000720;GI=CACNA1D,CACNA1D,CACNA1D;FC=Synonymous_D368D,Synonymous_D368D,Synonymous_D368D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,221:221:99:6435,467,0:54:99:1.000 chr3 53769479 rs1045958 C T 1111.36 PASS BaseQRankSum=-0.975;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.894;QD=14.07;ReadPosRankSum=-1.005;SB=-767.42;TI=NM_001128839,NM_001128840,NM_000720;GI=CACNA1D,CACNA1D,CACNA1D;FC=Synonymous_S900S,Synonymous_S900S,Synonymous_S920S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,49:79:99:1141,0,665:54:99:0.620 chr3 53856653 rs2241808 C T 4618.22 PASS BaseQRankSum=-0.042;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9095;MQ=55;MQ0=0;MQRankSum=-0.626;QD=27.82;ReadPosRankSum=-1.482;SB=-2768.65;TI=NM_018397;GI=CHDH;FC=Synonymous_A240A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,165:166:99:4618,296,0:55:99:0.994 chr3 53857803 rs12676 A C 4558.68 PASS DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.7083;MQ=56;MQ0=0;QD=26.82;SB=-2915.53;TI=NM_018397;GI=CHDH;FC=Missense_L78R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,169:170:99:4559,331,0:56:99:1.000 chr3 53857856 . C T 2207.00 PASS BaseQRankSum=2.271;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0603;MQ=56;MQ0=0;MQRankSum=0.878;QD=13.88;ReadPosRankSum=0.071;SB=-1256.51;TI=NM_018397;GI=CHDH;FC=Synonymous_T60T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,83:159:99:2237,0,2029:56:99:0.522 chr3 53883722 rs1025689 C G 4810.16 PASS BaseQRankSum=1.403;DP=179;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.7316;MQ=54;MQ0=0;MQRankSum=1.693;QD=26.87;ReadPosRankSum=-0.706;SB=-2615.01;TI=NM_018725;GI=IL17RB;FC=Synonymous_P42P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,178:179:99:4810,313,0:54:99:0.994 chr3 54798258 rs3732748 G A 1691.08 PASS DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3365;MQ=53;MQ0=0;QD=26.42;SB=-1168.04;TI=NM_018398;GI=CACNA2D3;FC=Synonymous_Q420Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1724,126,0:53:99:1.000 chr3 58112440 rs2362903 A G 1470.55 PASS BaseQRankSum=-0.092;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7865;MQ=56;MQ0=0;MQRankSum=0.174;QD=12.05;ReadPosRankSum=0.020;SB=-908.81;TI=NM_001164319,NM_001164318,NM_001164317,NM_001457;GI=FLNB,FLNB,FLNB,FLNB;FC=Synonymous_A1391A,Synonymous_A1391A,Synonymous_A1391A,Synonymous_A1391A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,61:122:99:1501,0,1905:56:99:0.500 chr3 58196639 rs2292677 C T 1082.53 PASS BaseQRankSum=0.476;DP=91;Dels=0.00;FS=1.911;HRun=0;HaplotypeScore=0.8667;MQ=56;MQ0=0;MQRankSum=1.219;QD=11.90;ReadPosRankSum=-1.043;SB=-433.49;TI=NM_004944;GI=DNASE1L3;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,40:91:99:1113,0,1440:56:99:0.440 chr3 58413405 rs1126737 T C 368.42 PASS BaseQRankSum=0.206;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1474;MQ=55;MQ0=0;MQRankSum=2.271;QD=17.54;ReadPosRankSum=1.280;SB=-74.09;TI=NR_033384,NM_000925,NM_001173468;GI=PDHB,PDHB,PDHB;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,16:21:73.96:398,0,74:55:74:0.762 chr3 58413465 rs7231 G C 2747.34 PASS DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=56;MQ0=0;QD=31.58;SB=-989.16;TI=NR_033384,NM_000925,NM_001173468;GI=PDHB,PDHB,PDHB;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2780,208,0:56:99:1.000 chr3 58413662 rs7230 G A 1965.65 PASS BaseQRankSum=1.828;DP=143;Dels=0.00;FS=2.967;HRun=0;HaplotypeScore=6.3643;MQ=57;MQ0=0;MQRankSum=1.121;QD=13.75;ReadPosRankSum=-1.157;SB=-1082.63;TI=NR_033384,NM_000925,NM_001173468;GI=PDHB,PDHB,PDHB;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,74:143:99:1996,0,1940:57:99:0.517 chr3 58416538 rs4264746 T C 4581.32 PASS DP=154;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.4156;MQ=54;MQ0=0;QD=29.75;SB=-2723.86;TI=NR_033384,NM_000925,NM_001173468;GI=PDHB,PDHB,PDHB;FC=Silent,Synonymous_R145R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,153:154:99:4581,334,0:54:99:1.000 chr3 62358427 rs75941837 C A 758.98 PASS BaseQRankSum=-0.974;DP=86;Dels=0.00;FS=4.202;HRun=1;HaplotypeScore=3.6264;MQ=56;MQ0=0;MQRankSum=1.615;QD=8.83;ReadPosRankSum=0.541;SB=-557.04;TI=NM_018008;GI=FEZF2;FC=Synonymous_T39T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,40:86:99:789,0,1087:56:99:0.465 chr3 63898343 . A C 10.43 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=37;MQ0=0;QD=10.43;SB=-0.01;TI=NM_000333,NM_001177387;GI=ATXN7,ATXN7;FC=Synonymous_A23A,Synonymous_A23A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:40,3,0:37:3:1.000 chr3 63898347 . G C 10.43 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=37;MQ0=0;QD=10.43;SB=-0.01;TI=NM_000333,NM_001177387;GI=ATXN7,ATXN7;FC=Missense_A25P,Missense_A25P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:40,3,0:37:3:1.000 chr3 63967900 rs1053338 A G 1787.27 PASS BaseQRankSum=0.898;DP=159;Dels=0.00;FS=0.588;HRun=0;HaplotypeScore=5.4493;MQ=52;MQ0=0;MQRankSum=1.929;QD=11.24;ReadPosRankSum=1.605;SB=-1200.93;TI=NM_000333,NM_001177387,NM_001128149;GI=ATXN7,ATXN7,ATXN7;FC=Missense_K264R,Missense_K264R,Missense_K119R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,76:159:99:1817,0,1964:52:99:0.478 chr3 63982082 rs3774729 G A 260.66 PASS BaseQRankSum=1.505;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=56;MQ0=0;MQRankSum=0.173;QD=9.65;ReadPosRankSum=0.271;SB=-31.63;TI=NM_000333,NM_001177387,NM_001128149;GI=ATXN7,ATXN7,ATXN7;FC=Missense_V862M,Missense_V862M,Missense_V717M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,11:27:99:291,0,488:56:99:0.407 chr3 64133350 rs27673 A G 5829.69 PASS DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3036;MQ=54;MQ0=0;QD=30.36;SB=-2893.22;TI=NM_198859;GI=PRICKLE2;FC=Synonymous_D272D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,192:192:99:5830,421,0:54:99:1.000 chr3 64142859 rs17720698 C T 1203.11 PASS BaseQRankSum=0.734;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6816;MQ=54;MQ0=0;MQRankSum=0.029;QD=12.28;ReadPosRankSum=0.627;SB=-370.40;TI=NM_198859;GI=PRICKLE2;FC=Synonymous_P193P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,45:98:99:1233,0,1478:54:99:0.459 chr3 64145759 rs2306380 T C 2086.09 PASS BaseQRankSum=0.428;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9407;MQ=55;MQ0=0;MQRankSum=-0.964;QD=13.29;ReadPosRankSum=0.782;SB=-905.18;TI=NM_198859;GI=PRICKLE2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,77:157:99:2116,0,2047:55:99:0.497 chr3 69112658 . C CA 102.79 R8 BaseQRankSum=-1.371;DP=29;FS=1.585;HRun=14;HaplotypeScore=126.4217;MQ=51;MQ0=0;MQRankSum=0.067;QD=3.54;ReadPosRankSum=-0.787;SB=-18.00;TI=NM_198195,NM_003968;GI=UBA3,UBA3;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,7:29:99:142,0,234:51:99:0.304 chr3 69151152 rs10489 C A 4239.94 PASS DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=56;MQ0=0;QD=29.04;SB=-2680.13;TI=NM_006407;GI=ARL6IP5;FC=Synonymous_I113I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:4240,307,0:56:99:1.000 chr3 78676467 rs7636043 A G 1579.09 PASS DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.79;SB=-792.24;TI=NM_133631,NM_001145845,NM_002941;GI=ROBO1,ROBO1,ROBO1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1612,117,0:55:99:1.000 chr3 78700901 rs6795556 G T 1541.92 PASS BaseQRankSum=-1.429;DP=106;Dels=0.00;FS=1.619;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=2.150;QD=14.55;ReadPosRankSum=-0.626;SB=-642.41;TI=NM_133631,NM_001145845,NM_002941;GI=ROBO1,ROBO1,ROBO1;FC=Synonymous_T895T,Synonymous_T895T,Synonymous_T931T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,55:106:99:1572,0,1401:54:99:0.519 chr3 81643167 rs2172397 T C 1945.88 PASS DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=28.20;SB=-1100.46;TI=NM_000158;GI=GBE1;FC=Missense_I334V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:1979,141,0:56:99:1.000 chr3 81810516 rs9820490 C A 300.81 LowDP BaseQRankSum=1.586;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=-0.566;QD=18.80;ReadPosRankSum=1.473;SB=-70.99;TI=NM_000158;GI=GBE1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,11:16:99:331,0,128:55:99:0.688 chr3 87295049 rs11540913 T C 1198.19 PASS DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=35.24;SB=-161.95;TI=NM_014043;GI=CHMP2B;FC=Synonymous_T104T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:93.30:1231,93,0:59:93:1.000 chr3 89498428 rs1398197 G A 1039.10 PASS BaseQRankSum=0.699;DP=98;Dels=0.00;FS=1.650;HRun=2;HaplotypeScore=2.9992;MQ=51;MQ0=1;MQRankSum=1.040;QD=10.60;ReadPosRankSum=0.663;SB=-710.32;TI=NM_005233;GI=EPHA3;FC=Synonymous_K800K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,45:98:99:1069,0,1256:51:99:0.459 chr3 89521664 rs17801309 G A 1678.82 PASS BaseQRankSum=0.797;DP=176;Dels=0.00;FS=1.212;HRun=0;HaplotypeScore=5.7692;MQ=53;MQ0=0;MQRankSum=0.667;QD=9.54;ReadPosRankSum=1.382;SB=-1071.99;TI=NM_005233;GI=EPHA3;FC=Missense_R914H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,69:176:99:1709,0,2720:53:99:0.392 chr3 89521693 rs35124509 T C 5606.69 PASS DP=193;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=53;MQ0=0;QD=29.05;SB=-3208.90;TI=NM_005233;GI=EPHA3;FC=Missense_W924R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,193:193:99:5607,409,0:53:99:1.000 chr3 93593119 rs6123 T C 1593.40 PASS BaseQRankSum=2.000;DP=129;Dels=0.00;FS=0.656;HRun=0;HaplotypeScore=3.6821;MQ=53;MQ0=0;MQRankSum=-0.483;QD=12.35;ReadPosRankSum=0.737;SB=-1012.98;TI=NM_000313;GI=PROS1;FC=Synonymous_P667P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,65:129:99:1623,0,1498:53:99:0.504 chr3 98304467 rs1729995 T C 2463.97 PASS BaseQRankSum=3.008;DP=208;Dels=0.00;FS=3.138;HRun=0;HaplotypeScore=11.0892;MQ=54;MQ0=0;MQRankSum=0.584;QD=11.85;ReadPosRankSum=0.587;SB=-1682.56;TI=NM_000097;GI=CPOX;FC=Synonymous_E330E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,108:208:99:2494,0,2533:54:99:0.519 chr3 100473505 rs10936352 C T 1081.45 PASS BaseQRankSum=-1.367;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3051;MQ=48;MQ0=0;MQRankSum=-0.385;QD=8.38;ReadPosRankSum=0.298;SB=-848.61;TI=NM_015429;GI=ABI3BP;FC=Synonymous_P916P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,55:129:99:1111,0,1660:48:99:0.430 chr3 100570787 . TAA T 94.54 LowVariantFreq;R8 BaseQRankSum=-1.030;DP=55;FS=2.579;HRun=14;HaplotypeScore=338.2565;MQ=46;MQ0=0;MQRankSum=0.466;QD=1.72;ReadPosRankSum=0.792;SB=-39.42;TI=NM_015429;GI=ABI3BP;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,5:55:99:133,0,979:46:95:0.122 chr3 100617668 rs34999788 G T 1292.11 PASS BaseQRankSum=0.240;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3361;MQ=53;MQ0=0;MQRankSum=1.202;QD=10.95;ReadPosRankSum=-1.877;SB=-870.40;TI=NM_015429;GI=ABI3BP;FC=Synonymous_S140S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,54:118:99:1322,0,1552:53:99:0.458 chr3 100617680 rs2245370 C T 1545.79 PASS BaseQRankSum=1.328;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=53;MQ0=0;MQRankSum=-0.791;QD=13.21;ReadPosRankSum=1.481;SB=-1015.71;TI=NM_015429;GI=ABI3BP;FC=Synonymous_S136S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,64:117:99:1576,0,1296:53:99:0.547 chr3 100712249 rs3732895 T C 2105.24 PASS BaseQRankSum=1.787;DP=166;Dels=0.00;FS=2.786;HRun=0;HaplotypeScore=5.6734;MQ=50;MQ0=0;MQRankSum=-1.934;QD=12.68;ReadPosRankSum=-1.303;SB=-1489.24;TI=NM_015429;GI=ABI3BP;FC=Missense_M1V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,96:166:99:2135,0,1549:50:99:0.578 chr3 100949842 rs348867 G A 2513.34 PASS DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9998;MQ=53;MQ0=0;QD=27.93;SB=-1355.81;TI=NM_016247;GI=IMPG2;FC=Synonymous_L1127L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2546,184,0:53:99:1.000 chr3 100963154 rs571391 G A 6987.27 PASS DP=219;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9570;MQ=58;MQ0=0;QD=31.91;SB=-3653.71;TI=NM_016247;GI=IMPG2;FC=Missense_T674I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,219:219:99:6987,521,0:58:99:1.000 chr3 100994497 rs533852 C T 3615.61 PASS DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=53;MQ0=0;QD=27.81;SB=-2147.31;TI=NM_016247;GI=IMPG2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:3616,256,0:53:99:1.000 chr3 105238901 rs2291376 T C 633.08 LowGQ BaseQRankSum=1.528;DP=27;Dels=0.00;FS=3.010;HRun=5;HaplotypeScore=1.8332;MQ=56;MQ0=0;MQRankSum=0.509;QD=23.45;ReadPosRankSum=-1.157;SB=-437.87;TI=NM_001627;GI=ALCAM;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,25:27:20.73:666,21,0:56:21:0.926 chr3 105260518 rs579565 G A 891.55 PASS BaseQRankSum=0.219;DP=103;Dels=0.00;FS=2.665;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.286;QD=8.66;ReadPosRankSum=0.111;SB=-453.89;TI=NM_001627;GI=ALCAM;FC=Synonymous_L300L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,41:103:99:922,0,1365:52:99:0.398 chr3 105260596 rs599278 T C 2412.35 PASS DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7878;MQ=53;MQ0=0;QD=26.51;SB=-1696.94;TI=NM_001627;GI=ALCAM;FC=Synonymous_A326A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2445,172,0:53:99:1.000 chr3 105264176 rs34926152 G T 966.70 PASS BaseQRankSum=-1.358;DP=73;Dels=0.00;FS=3.246;HRun=1;HaplotypeScore=9.9356;MQ=52;MQ0=0;MQRankSum=0.919;QD=13.24;ReadPosRankSum=-2.565;SB=-647.85;TI=NM_001627;GI=ALCAM;FC=Missense_M367I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,44:73:99:997,0,739:52:99:0.603 chr3 105421304 . C A 7.82 LowGQX;SB;LowDP BaseQRankSum=-1.109;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0676;MQ=48;MQ0=0;MQRankSum=-1.849;QD=0.65;ReadPosRankSum=1.479;SB=-0.01;TI=NM_170662;GI=CBLB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,3:12:37.03:37,0,200:48:8:0.250 chr3 105421313 . C A 41.74 SB;LowDP BaseQRankSum=0.361;DP=9;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=12.0307;MQ=43;MQ0=0;MQRankSum=-1.652;QD=4.64;ReadPosRankSum=0.361;SB=-0.01;TI=NM_170662;GI=CBLB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,5:9:58.02:72,0,58:43:42:0.556 chr3 105422844 rs2305037 C T 782.23 PASS DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=31.29;SB=-398.61;TI=NM_170662;GI=CBLB;FC=Synonymous_T527T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,25:25:60.20:815,60,0:59:60:1.000 chr3 108102586 rs7426463 T A 66.75 SB BaseQRankSum=0.524;DP=22;Dels=0.00;FS=9.859;HRun=15;HaplotypeScore=23.7930;MQ=49;MQ0=0;MQRankSum=0.436;QD=3.03;ReadPosRankSum=-1.658;SB=-0.01;TI=NM_014981;GI=MYH15;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,5:22:96.75:97,0,332:49:67:0.250 chr3 108102586 . T TA 142.70 R8 BaseQRankSum=-0.619;DP=22;FS=4.947;HRun=15;HaplotypeScore=170.5554;MQ=49;MQ0=0;MQRankSum=-0.536;QD=6.49;ReadPosRankSum=0.124;SB=-29.53;TI=NM_014981;GI=MYH15;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,7:22:56.19:182,0,56:49:56:0.350 chr3 108107925 rs7616341 C A 1592.62 PASS BaseQRankSum=1.295;DP=123;Dels=0.00;FS=0.669;HRun=2;HaplotypeScore=8.2579;MQ=56;MQ0=0;MQRankSum=0.335;QD=12.95;ReadPosRankSum=0.028;SB=-1149.03;TI=NM_014981;GI=MYH15;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,70:123:99:1623,0,1362:56:99:0.569 chr3 108117694 rs13087507 G A 382.06 PASS BaseQRankSum=2.203;DP=46;Dels=0.00;FS=1.204;HRun=1;HaplotypeScore=2.8936;MQ=58;MQ0=0;MQRankSum=0.469;QD=8.31;ReadPosRankSum=0.867;SB=-192.73;TI=NM_014981;GI=MYH15;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,15:46:99:412,0,922:58:99:0.326 chr3 108147728 rs3900940 T C 1364.15 PASS BaseQRankSum=1.994;DP=118;Dels=0.00;FS=4.534;HRun=1;HaplotypeScore=5.6802;MQ=53;MQ0=0;MQRankSum=2.360;QD=11.56;ReadPosRankSum=1.585;SB=-911.89;TI=NM_014981;GI=MYH15;FC=Missense_T1125A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,58:118:99:1394,0,1482:53:99:0.492 chr3 108158574 rs3996040 C T 4777.09 PASS DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;QD=30.82;SB=-2547.85;TI=NM_014981;GI=MYH15;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4777,349,0:54:99:1.000 chr3 108179219 rs11303627 CA C 228.91 R8 BaseQRankSum=0.556;DP=25;FS=0.000;HRun=13;HaplotypeScore=47.9654;MQ=55;MQ0=0;MQRankSum=-1.890;QD=9.16;ReadPosRankSum=-1.594;SB=-134.55;TI=NM_014981;GI=MYH15;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,11:25:91.23:268,0,91:55:91:0.647 chr3 108188993 rs9868484 G A 4493.65 PASS DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=29.37;SB=-2795.40;TI=NM_014981;GI=MYH15;FC=Missense_H504Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,152:153:99:4494,322,0:53:99:1.000 chr3 108189627 rs4299484 C T 1093.93 PASS BaseQRankSum=0.361;DP=104;Dels=0.00;FS=0.734;HRun=0;HaplotypeScore=1.7882;MQ=50;MQ0=0;MQRankSum=1.758;QD=10.52;ReadPosRankSum=-2.264;SB=-656.46;TI=NM_014981;GI=MYH15;FC=Missense_R454Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,45:104:99:1124,0,1454:50:99:0.433 chr3 108224685 . CA C 110.71 R8 BaseQRankSum=-0.211;DP=62;FS=2.476;HRun=15;HaplotypeScore=170.2209;MQ=52;MQ0=0;MQRankSum=1.789;QD=1.79;ReadPosRankSum=-0.853;SB=-52.98;TI=NM_014981;GI=MYH15;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,9:62:99:150,0,585:52:99:0.209 chr3 108229437 . G GA 413.50 R8 BaseQRankSum=1.273;DP=49;FS=0.000;HRun=11;HaplotypeScore=106.8518;MQ=57;MQ0=0;MQRankSum=-0.362;QD=8.44;ReadPosRankSum=-0.693;SB=-201.20;TI=NM_014981;GI=MYH15;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,17:49:99:453,0,456:57:99:0.405 chr3 111356083 rs1533270 G C 2349.01 PASS DP=94;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.7882;MQ=52;MQ0=0;QD=24.99;SB=-1569.01;TI=NM_198196,NM_005816;GI=CD96,CD96;FC=Synonymous_P470P,Synonymous_P454P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:94:99:2382,169,0:52:99:1.000 chr3 112185025 rs9288952 G A 4726.90 PASS DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=31.51;SB=-1928.81;TI=NM_181780,NM_001085357;GI=BTLA,BTLA;FC=Missense_P267L,Missense_P219L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:4727,343,0:53:99:1.000 chr3 112190137 rs2931761 G T 1686.09 PASS DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=25.55;SB=-1245.22;TI=NM_181780,NM_001085357;GI=BTLA,BTLA;FC=Missense_R157S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:66:99:1719,120,0:51:99:1.000 chr3 113858350 rs2251177 C T 2814.28 PASS DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.9842;MQ=55;MQ0=0;QD=28.14;SB=-1409.95;TI=NM_000796,NM_033663;GI=DRD3,DRD3;FC=Synonymous_Q240Q,Synonymous_Q240Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:100:99:2847,211,0:55:99:1.000 chr3 113890815 rs6280 C T 1469.66 PASS BaseQRankSum=0.010;DP=105;Dels=0.00;FS=4.898;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=1.439;QD=14.00;ReadPosRankSum=0.593;SB=-684.67;TI=NM_000796,NM_033663;GI=DRD3,DRD3;FC=Missense_G9S,Missense_G9S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,54:105:99:1500,0,1342:54:99:0.514 chr3 113955820 rs3732780 G C 35.77 SB;LowDP BaseQRankSum=1.026;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.000;QD=8.94;ReadPosRankSum=0.000;SB=-0.01;TI=NM_007136;GI=ZNF80;FC=Synonymous_S34S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:63.55:66,0,64:60:36:0.500 chr3 119109837 rs78837524 G A 503.59 PASS BaseQRankSum=-0.061;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8662;MQ=55;MQ0=0;MQRankSum=1.077;QD=15.74;ReadPosRankSum=1.362;SB=-353.70;TI=NM_020754;GI=ARHGAP31;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,22:32:99:534,0,200:55:99:0.688 chr3 119118104 rs4688001 A G 2691.98 PASS BaseQRankSum=1.697;DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=0.208;QD=26.92;ReadPosRankSum=1.178;SB=-1879.48;TI=NM_020754;GI=ARHGAP31;FC=Synonymous_V355V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,99:100:99:2725,196,0:52:99:0.990 chr3 119128628 rs1463139 A G 140.13 SB;LowDP BaseQRankSum=0.466;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.466;QD=12.74;ReadPosRankSum=0.143;SB=-0.01;TI=NM_020754;GI=ARHGAP31;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,5:11:99:170,0,205:60:99:0.455 chr3 119128634 rs1463138 T C 132.05 SB;LowDP BaseQRankSum=-0.851;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.470;QD=13.20;ReadPosRankSum=-0.336;SB=-0.01;TI=NM_020754;GI=ARHGAP31;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,5:10:99:162,0,170:60:99:0.500 chr3 119133183 rs3732413 G A 3294.74 PASS BaseQRankSum=2.753;DP=248;Dels=0.00;FS=2.182;HRun=0;HaplotypeScore=14.5783;MQ=56;MQ0=0;MQRankSum=0.808;QD=13.29;ReadPosRankSum=0.680;SB=-1639.84;TI=NM_020754;GI=ARHGAP31;FC=Missense_G803S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,124:248:99:3295,0,3105:56:99:0.502 chr3 119533910 rs4058490 T C 4065.65 PASS DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6762;MQ=51;MQ0=0;QD=28.23;SB=-2425.23;TI=NM_033013,NM_003889,NM_022002;GI=NR1I2,NR1I2,NR1I2;FC=Synonymous_N256N,Synonymous_N293N,Synonymous_N332N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,144:144:99:4066,292,0:51:99:1.000 chr3 120389316 rs2255543 T A 1022.64 PASS BaseQRankSum=-0.130;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=56;MQ0=0;MQRankSum=2.402;QD=10.76;ReadPosRankSum=-0.168;SB=-737.09;TI=NM_000187;GI=HGD;FC=Missense_Q80H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,46:95:99:1053,0,1162:56:99:0.484 chr3 121350966 rs9869984 C G 3496.67 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5367;MQ=51;MQ0=0;QD=30.14;SB=-1554.87;TI=NM_005335;GI=HCLS1;FC=Missense_V436L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3497,262,0:51:99:1.000 chr3 121351315 . G GGGCTCAGGCTCA 3323.00 PASS DP=56;FS=0.000;HRun=0;HaplotypeScore=70.5538;MQ=40;MQ0=0;QD=59.34;SB=-560.77;TI=NM_005335;GI=HCLS1;FC=4AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:28,26:56:84.27:3323,84,0:40:84:0.481 chr3 121353254 rs2070179 T C 3446.04 PASS DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5487;MQ=54;MQ0=0;QD=30.23;SB=-1767.72;TI=NM_005335;GI=HCLS1;FC=Missense_T235A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:114:99:3446,259,0:54:99:1.000 chr3 121354583 rs3772126 G A 3359.95 PASS DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8614;MQ=53;MQ0=0;QD=26.88;SB=-2017.11;TI=NM_005335;GI=HCLS1;FC=Synonymous_A230A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3360,241,0:53:99:1.000 chr3 121825197 rs2681417 G A 9706.34 PASS DP=319;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3863;MQ=56;MQ0=0;QD=30.43;SB=-5185.84;TI=NM_175862,NM_006889;GI=CD86,CD86;FC=Missense_V185I,Missense_V179I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,319:319:99:9706,704,0:56:99:1.000 chr3 122003045 rs2036400 G C 5045.28 PASS DP=137;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=6.3794;MQ=57;MQ0=0;QD=36.83;SB=-1166.06;TI=NM_000388,NM_001178065;GI=CASR,CASR;FC=Synonymous_P748P,Synonymous_P758P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:5045,388,0:57:99:1.000 chr3 122003832 rs1801726 G C 4248.16 PASS DP=135;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=7.3817;MQ=56;MQ0=0;QD=31.47;SB=-1978.86;TI=NM_000388,NM_001178065;GI=CASR,CASR;FC=Missense_E1011Q,Missense_E1021Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:134:99:4248,316,0:56:99:1.000 chr3 122056432 rs17589 C T 4947.81 PASS BaseQRankSum=1.692;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5761;MQ=55;MQ0=0;MQRankSum=-0.302;QD=28.77;ReadPosRankSum=0.947;SB=-2760.64;TI=NM_005213;GI=CSTA;FC=Synonymous_Y35Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,171:172:99:4948,355,0:55:99:0.994 chr3 122186188 rs4678193 C T 2379.69 PASS DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7798;MQ=53;MQ0=0;QD=29.02;SB=-1042.87;TI=NM_002264,NR_026698;GI=KPNA1,KPNA1;FC=Missense_S73N,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2413,175,0:53:99:1.000 chr3 123018963 rs4482616 A G 3415.52 PASS BaseQRankSum=1.516;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=55;MQ0=0;MQRankSum=0.668;QD=29.44;ReadPosRankSum=-0.265;SB=-1176.80;TI=NM_001199642,NM_183357;GI=ADCY5,ADCY5;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,114:116:99:3416,188,0:55:99:0.983 chr3 123167249 rs4678027 G A 574.33 PASS DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=27.35;SB=-347.59;TI=NM_183357;GI=ADCY5;FC=Synonymous_G48G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,21:21:45.14:607,45,0:60:45:1.000 chr3 123411589 rs40305 G A 616.06 PASS BaseQRankSum=1.595;DP=53;Dels=0.00;FS=1.073;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.650;QD=11.62;ReadPosRankSum=-0.330;SB=-293.33;TI=NM_053025,NM_053027,NM_053026,NM_053028;GI=MYLK,MYLK,MYLK,MYLK;FC=Synonymous_T1186T,Synonymous_T1186T,Synonymous_T1117T,Synonymous_T1117T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,25:53:99:646,0,623:54:99:0.472 chr3 123418913 rs865358 G A 1325.45 SB DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=37.87;SB=-0.01;TI=NM_053025,NM_053027,NM_053026,NM_053028;GI=MYLK,MYLK,MYLK,MYLK;FC=Synonymous_N1134N,Synonymous_N1134N,Synonymous_N1065N,Synonymous_N1065N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:35:99:1358,102,0:60:99:1.000 chr3 123440967 rs820355 G A 420.76 LowDP DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=24.75;SB=-201.96;TI=NM_053025,NM_053027,NM_053026,NM_053028;GI=MYLK,MYLK,MYLK,MYLK;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,17:17:33.10:454,33,0:57:33:1.000 chr3 123451773 rs9833275 G C 1407.28 PASS DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.72;SB=-628.49;TI=NM_053025,NM_053027,NM_053026,NM_053028;GI=MYLK,MYLK,MYLK,MYLK;FC=Missense_L496V,Missense_L496V,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1440,105,0:54:99:1.000 chr3 123452838 rs4678047 G A 4892.92 PASS BaseQRankSum=2.762;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3853;MQ=56;MQ0=0;MQRankSum=0.238;QD=28.28;ReadPosRankSum=1.076;SB=-2009.18;TI=NM_053025,NM_053027,NM_053026,NM_053028;GI=MYLK,MYLK,MYLK,MYLK;FC=Synonymous_T335T,Synonymous_T335T,Synonymous_T335T,Synonymous_T335T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,170:173:99:4893,367,0:56:99:0.983 chr3 123457893 rs9840993 G A 1043.01 PASS DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=31.61;SB=-354.80;TI=NM_053025,NM_053027,NM_053026,NM_053028;GI=MYLK,MYLK,MYLK,MYLK;FC=Missense_P147S,Missense_P147S,Missense_P147S,Missense_P147S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:81.26:1076,81,0:57:81:1.000 chr3 123634046 rs2700373 G A 5394.62 PASS BaseQRankSum=1.110;DP=167;Dels=0.00;FS=3.144;HRun=0;HaplotypeScore=5.4702;MQ=56;MQ0=0;MQRankSum=0.778;QD=32.30;ReadPosRankSum=0.716;SB=-3104.06;TI=NM_022757;GI=CCDC14;FC=Synonymous_S773S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,166:167:99:5395,365,0:56:99:0.994 chr3 123665902 rs17310144 T G 1685.17 PASS BaseQRankSum=2.033;DP=141;Dels=0.00;FS=1.379;HRun=1;HaplotypeScore=7.4540;MQ=56;MQ0=0;MQRankSum=-1.579;QD=11.95;ReadPosRankSum=-0.010;SB=-903.06;TI=NM_022757;GI=CCDC14;FC=Missense_T324P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,67:141:99:1715,0,2151:56:99:0.475 chr3 123988039 rs2272486 T C 6174.29 PASS DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=30.27;SB=-3640.85;TI=NM_003947,NM_001024660;GI=KALRN,KALRN;FC=Synonymous_H300H,Synonymous_H300H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,204:204:99:6174,445,0:56:99:1.000 chr3 124044949 rs2289778 C T 6835.25 PASS BaseQRankSum=1.717;DP=232;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.8006;MQ=55;MQ0=0;MQRankSum=1.657;QD=29.46;ReadPosRankSum=0.314;SB=-3783.98;TI=NM_003947,NM_001024660;GI=KALRN,KALRN;FC=Synonymous_F403F,Synonymous_F403F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,231:232:99:6835,497,0:55:99:0.996 chr3 124048764 rs2276740 C T 1568.91 PASS BaseQRankSum=1.970;DP=158;Dels=0.00;FS=0.597;HRun=0;HaplotypeScore=2.7878;MQ=51;MQ0=0;MQRankSum=0.708;QD=9.93;ReadPosRankSum=-0.227;SB=-1170.58;TI=NM_003947,NM_001024660;GI=KALRN,KALRN;FC=Synonymous_S445S,Synonymous_S445S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,73:158:99:1599,0,1910:51:99:0.462 chr3 124351316 rs1708303 G A 5932.56 PASS DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1858;MQ=56;MQ0=0;QD=31.90;SB=-2837.85;TI=NM_001024660,NM_007064;GI=KALRN,KALRN;FC=Synonymous_V1742V,Synonymous_V45V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,186:186:99:5933,439,0:56:99:1.000 chr3 124351424 rs1660038 T C 5861.05 PASS BaseQRankSum=1.610;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.5893;MQ=55;MQ0=0;MQRankSum=1.593;QD=29.45;ReadPosRankSum=-1.332;SB=-3722.10;TI=NM_001024660,NM_007064;GI=KALRN,KALRN;FC=Synonymous_L1778L,Synonymous_L81L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,198:199:99:5861,430,0:55:99:0.995 chr3 124352728 rs652863 G A 2469.77 PASS BaseQRankSum=1.605;DP=185;Dels=0.00;FS=1.827;HRun=0;HaplotypeScore=12.2298;MQ=55;MQ0=0;MQRankSum=-0.647;QD=13.35;ReadPosRankSum=0.076;SB=-1294.42;TI=NM_001024660,NM_007064;GI=KALRN,KALRN;FC=Synonymous_P1831P,Synonymous_P134P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,93:185:99:2500,0,2166:55:99:0.503 chr3 124369650 rs2291988 T C 1655.16 PASS BaseQRankSum=-0.779;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6818;MQ=60;MQ0=0;MQRankSum=-0.027;QD=10.68;ReadPosRankSum=0.596;SB=-869.97;TI=NM_001024660,NM_007064;GI=KALRN,KALRN;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,69:155:99:1685,0,2292:60:99:0.445 chr3 124376653 rs106520 G A 2524.39 PASS BaseQRankSum=1.706;DP=168;Dels=0.00;FS=1.330;HRun=1;HaplotypeScore=5.4428;MQ=57;MQ0=0;MQRankSum=0.869;QD=15.03;ReadPosRankSum=-2.133;SB=-895.47;TI=NM_001024660,NM_007064;GI=KALRN,KALRN;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,91:168:99:2554,0,2092:57:99:0.542 chr3 124379817 rs333289 T C 2118.39 PASS DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=25.83;SB=-1473.40;TI=NM_001024660,NM_007064;GI=KALRN,KALRN;FC=Synonymous_I2087I,Synonymous_I390I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2151,153,0:52:99:1.000 chr3 124449209 rs2279198 A G 516.16 SB BaseQRankSum=2.061;DP=62;Dels=0.00;FS=8.399;HRun=3;HaplotypeScore=0.9997;MQ=59;MQ0=0;MQRankSum=-0.397;QD=8.33;ReadPosRankSum=-0.641;SB=-9.92 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,19:62:99:546,0,1131:59:99:0.306 chr3 124449291 rs1139538 A G 1254.62 PASS BaseQRankSum=1.467;DP=112;Dels=0.00;FS=7.430;HRun=0;HaplotypeScore=2.7094;MQ=58;MQ0=0;MQRankSum=-0.260;QD=11.20;ReadPosRankSum=-2.027;SB=-652.25;TI=NM_000373,NR_033434,NR_033437;GI=UMPS,UMPS,UMPS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,52:112:99:1285,0,1550:58:99:0.464 chr3 124462986 rs3836305 CT C 7884.15 PASS BaseQRankSum=-0.147;DP=366;FS=8.517;HRun=1;HaplotypeScore=116.8965;MQ=56;MQ0=0;MQRankSum=-0.549;QD=21.54;ReadPosRankSum=-2.206;SB=-3341.20;TI=NM_000373,NR_033434,NR_033437;GI=UMPS,UMPS,UMPS;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:167,199:366:99:7884,0,6476:56:99:0.544 chr3 124464215 . AT ATT,A 977.71 PASS BaseQRankSum=0.037;DP=100;FS=4.261;HaplotypeScore=397.8609;MQ=49;MQ0=0;MQRankSum=-0.887;QD=9.78;ReadPosRankSum=0.604;SB=-410.91;TI=NM_000373,NR_033434,NR_033437;GI=UMPS,UMPS,UMPS;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:25,5,44:100:99:1056,910,1534,127,0,380:49:99:0.662 chr3 124467069 rs593292 T G 3640.09 PASS DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;QD=27.16;SB=-1933.97;TI=NM_000373,NR_033434,NR_033437;GI=UMPS,UMPS,UMPS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:134:99:3640,259,0:54:99:1.000 chr3 124467554 rs75775614 C T 206.45 LowDP BaseQRankSum=0.811;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=58;MQ0=0;MQRankSum=-0.101;QD=15.88;ReadPosRankSum=-2.281;SB=-60.15;TI=NM_000373,NR_033434,NR_033437;GI=UMPS,UMPS,UMPS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,7:13:99:236,0,129:58:99:0.538 chr3 124646594 rs4679392 A G 672.36 PASS BaseQRankSum=2.689;DP=53;Dels=0.00;FS=4.035;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=1.153;QD=12.69;ReadPosRankSum=0.545;SB=-246.98;TI=NM_033049;GI=MUC13;FC=Missense_I99T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,24:53:99:702,0,763:54:99:0.453 chr3 124646705 rs10630030 A AAAG 1964.57 PASS DP=34;FS=0.000;HRun=0;HaplotypeScore=47.6815;MQ=51;MQ0=0;QD=57.78;SB=-997.24;TI=NM_033049;GI=MUC13;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,32:34:99:2007,102,0:51:99:0.970 chr3 124646837 rs4679394 G A 408.98 PASS BaseQRankSum=0.903;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=55;MQ0=0;MQRankSum=-2.220;QD=15.15;ReadPosRankSum=-1.586;SB=-98.41;TI=NM_033049;GI=MUC13;FC=Unknown_18;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,15:27:99:439,0,282:55:99:0.556 chr3 126202257 rs1687477 G A 2603.53 PASS BaseQRankSum=-1.029;DP=212;Dels=0.00;FS=1.070;HRun=0;HaplotypeScore=11.6741;MQ=54;MQ0=0;MQRankSum=1.877;QD=12.28;ReadPosRankSum=1.108;SB=-1696.73;TI=NM_001165974,NM_144639;GI=UROC1,UROC1;FC=Synonymous_A675A,Synonymous_A615A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,115:212:99:2634,0,2229:54:99:0.542 chr3 126219627 rs34025926 G A 2322.75 PASS BaseQRankSum=1.595;DP=223;Dels=0.00;FS=3.812;HRun=0;HaplotypeScore=11.1098;MQ=51;MQ0=0;MQRankSum=0.263;QD=10.42;ReadPosRankSum=0.051;SB=-1622.06;TI=NM_001165974,NM_144639;GI=UROC1,UROC1;FC=Synonymous_G412G,Synonymous_G352G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,104:223:99:2353,0,2764:51:99:0.466 chr3 128204951 rs2335052 C T 952.61 PASS BaseQRankSum=-0.542;DP=103;Dels=0.00;FS=0.780;HRun=1;HaplotypeScore=3.6987;MQ=55;MQ0=0;MQRankSum=0.091;QD=9.25;ReadPosRankSum=-0.226;SB=-485.71;TI=NM_001145662,NM_001145661,NM_032638;GI=GATA2,GATA2,GATA2;FC=Missense_A164T,Missense_A164T,Missense_A164T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,41:103:99:983,0,1858:55:99:0.398 chr3 128205860 rs1573858 G C 457.54 LowDP DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=35.20;SB=-40.65;TI=NM_001145662,NM_001145661,NM_032638;GI=GATA2,GATA2,GATA2;FC=Synonymous_P5P,Synonymous_P5P,Synonymous_P5P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,13:13:36.12:491,36,0:60:36:1.000 chr3 128598469 rs62783861 CGT C 882.26 PASS BaseQRankSum=-0.551;DP=62;FS=3.399;HRun=0;HaplotypeScore=78.0517;MQ=57;MQ0=0;MQRankSum=2.392;QD=14.23;ReadPosRankSum=0.475;SB=-67.69;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,24:62:99:921,0,1431:57:99:0.387 chr3 128614185 rs1680778 A C 2270.89 PASS BaseQRankSum=2.633;DP=241;Dels=0.00;FS=1.014;HRun=0;HaplotypeScore=5.4678;MQ=51;MQ0=0;MQRankSum=2.108;QD=9.42;ReadPosRankSum=-1.381;SB=-1484.78;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Silent,Synonymous_R127R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:138,103:241:99:2301,0,3155:51:99:0.427 chr3 128627021 rs1683787 A G 3277.72 PASS BaseQRankSum=0.238;DP=258;Dels=0.00;FS=0.996;HRun=1;HaplotypeScore=7.3805;MQ=54;MQ0=0;MQRankSum=3.100;QD=12.70;ReadPosRankSum=2.027;SB=-1722.51;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,136:258:99:3278,0,2874:54:99:0.531 chr3 128627933 rs876755 C T 1599.94 PASS BaseQRankSum=0.809;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7863;MQ=52;MQ0=0;MQRankSum=1.538;QD=13.22;ReadPosRankSum=-0.211;SB=-1070.60;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Silent,Synonymous_P492P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,66:121:99:1630,0,1232:52:99:0.545 chr3 128890350 rs4303883 G A 1349.71 PASS DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=32.14;SB=-458.16;TI=NM_001127193,NM_001127195,NM_001127194,NM_003418,NM_001127196,NM_001127192;GI=CNBP,CNBP,CNBP,CNBP,CNBP,CNBP;FC=Synonymous_D52D,Synonymous_D45D,Synonymous_D45D,Synonymous_D52D,Synonymous_D45D,Synonymous_D52D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:99:1383,102,0:57:99:1.000 chr3 129152089 rs140696 G A 449.66 PASS BaseQRankSum=0.987;DP=44;Dels=0.00;FS=1.154;HRun=0;HaplotypeScore=1.7882;MQ=51;MQ0=0;MQRankSum=-1.527;QD=10.22;ReadPosRankSum=0.775;SB=-343.63;TI=NM_003925;GI=MBD4;FC=Unknown_471;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,23:44:99:480,0,537:51:99:0.523 chr3 129202387 . G T 3392.30 PASS BaseQRankSum=2.977;DP=250;Dels=0.00;FS=2.889;HRun=0;HaplotypeScore=15.3531;MQ=55;MQ0=0;MQRankSum=4.448;QD=13.57;ReadPosRankSum=-2.657;SB=-1616.12;TI=NM_018262,NM_052990,NM_052985,NM_052989;GI=IFT122,IFT122,IFT122,IFT122;FC=Synonymous_S512S,Synonymous_S460S,Synonymous_S622S,Synonymous_S571S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,131:250:99:3392,0,2755:55:99:0.524 chr3 129210977 rs2285354 G C 1820.07 PASS BaseQRankSum=-0.879;DP=159;Dels=0.00;FS=5.733;HRun=2;HaplotypeScore=6.4411;MQ=53;MQ0=0;MQRankSum=1.310;QD=11.45;ReadPosRankSum=-0.012;SB=-1038.51;TI=NM_018262,NM_052990,NM_052985,NM_052989;GI=IFT122,IFT122,IFT122,IFT122;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,74:159:99:1850,0,2048:53:99:0.465 chr3 129237990 . C T 3087.52 PASS BaseQRankSum=1.208;DP=284;Dels=0.00;FS=1.433;HRun=1;HaplotypeScore=4.4156;MQ=56;MQ0=0;MQRankSum=2.331;QD=10.87;ReadPosRankSum=-2.869;SB=-2140.95;TI=NM_018262,NM_052990,NM_052985,NM_052989;GI=IFT122,IFT122,IFT122,IFT122;FC=Synonymous_I1085I,Synonymous_I1034I,Synonymous_I1195I,Synonymous_I1144I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:150,134:284:99:3118,0,3398:56:99:0.472 chr3 129275206 rs11920311 C T 1622.95 PASS BaseQRankSum=0.438;DP=135;Dels=0.00;FS=2.194;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=0.658;QD=12.02;ReadPosRankSum=-1.855;SB=-981.21;TI=NM_015103;GI=PLXND1;FC=Synonymous_Q1909Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,68:135:99:1653,0,1735:54:99:0.504 chr3 129279570 rs2170774 T C 644.93 PASS BaseQRankSum=1.093;DP=62;Dels=0.00;FS=2.093;HRun=0;HaplotypeScore=0.8667;MQ=51;MQ0=0;MQRankSum=0.454;QD=10.40;ReadPosRankSum=0.866;SB=-389.32;TI=NM_015103;GI=PLXND1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,27:62:99:675,0,896:51:99:0.435 chr3 129281980 rs2713625 C T 4020.31 PASS DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4051;MQ=57;MQ0=0;QD=30.69;SB=-2223.14;TI=NM_015103;GI=PLXND1;FC=Missense_S1542N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:4020,298,0:57:99:1.000 chr3 129284818 rs2625973 A C 2049.38 PASS BaseQRankSum=0.671;DP=211;Dels=0.00;FS=4.896;HRun=0;HaplotypeScore=9.2030;MQ=53;MQ0=0;MQRankSum=0.869;QD=9.71;ReadPosRankSum=0.726;SB=-1334.77;TI=NM_015103;GI=PLXND1;FC=Missense_L1412V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,96:211:99:2079,0,2528:53:99:0.459 chr3 129286413 rs2245285 G C 1805.63 PASS BaseQRankSum=3.210;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3863;MQ=54;MQ0=0;MQRankSum=1.088;QD=9.76;ReadPosRankSum=-1.216;SB=-1052.88;TI=NM_015103;GI=PLXND1;FC=Synonymous_L1336L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,78:185:99:1836,0,2643:54:99:0.422 chr3 129286531 rs2245281 C A 1280.44 PASS BaseQRankSum=1.343;DP=126;Dels=0.00;FS=11.681;HRun=0;HaplotypeScore=4.4704;MQ=56;MQ0=0;MQRankSum=1.372;QD=10.16;ReadPosRankSum=1.323;SB=-690.13;TI=NM_015103;GI=PLXND1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,55:126:99:1310,0,1894:56:99:0.437 chr3 129286635 rs2245278 G A 1834.56 PASS BaseQRankSum=0.999;DP=131;Dels=0.01;FS=0.700;HRun=2;HaplotypeScore=9.9284;MQ=56;MQ0=0;MQRankSum=1.211;QD=14.00;ReadPosRankSum=0.235;SB=-911.08;TI=NM_015103;GI=PLXND1;FC=Synonymous_F1293F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,73:130:99:1865,0,1517:56:99:0.562 chr3 129291751 rs2244708 T C 2276.06 PASS BaseQRankSum=2.146;DP=156;Dels=0.00;FS=2.954;HRun=0;HaplotypeScore=8.4180;MQ=52;MQ0=0;MQRankSum=-0.773;QD=14.59;ReadPosRankSum=-0.978;SB=-1171.30;TI=NM_015103;GI=PLXND1;FC=Synonymous_P957P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,92:156:99:2306,0,1679:52:99:0.590 chr3 129293183 rs2625962 T C 2889.27 PASS DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.8994;MQ=57;MQ0=0;QD=27.00;SB=-1280.62;TI=NM_015103;GI=PLXND1;FC=Missense_H894R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:107:99:2922,217,0:57:99:1.000 chr3 129293256 rs2255703 T C 2798.76 PASS BaseQRankSum=-0.859;DP=251;Dels=0.00;FS=0.969;HRun=0;HaplotypeScore=10.5503;MQ=51;MQ0=0;MQRankSum=-0.733;QD=11.15;ReadPosRankSum=-1.242;SB=-2247.14;TI=NM_015103;GI=PLXND1;FC=Missense_M870V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,135:251:99:2829,0,2513:51:99:0.538 chr3 129297223 rs1110168 C G 2054.14 PASS BaseQRankSum=1.024;DP=195;Dels=0.00;FS=4.269;HRun=1;HaplotypeScore=15.7572;MQ=56;MQ0=0;MQRankSum=3.892;QD=10.53;ReadPosRankSum=-1.545;SB=-1199.59;TI=NM_015103;GI=PLXND1;FC=Synonymous_T765T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,78:195:99:2084,0,3011:56:99:0.400 chr3 129324193 rs7619850 A G 883.18 PASS DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1734;MQ=41;MQ0=0;QD=27.60;SB=-498.76;TI=NM_015103;GI=PLXND1;FC=Synonymous_C430C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,32:32:72.19:916,72,0:41:72:1.000 chr3 129946918 rs4574337 T C 4483.15 PASS DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=57;MQ0=0;QD=32.25;SB=-2475.34;TI=NR_027898;GI=COL6A4P2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,139:139:99:4483,334,0:57:99:1.000 chr3 129953447 rs13082730 A G 2870.81 PASS DP=101;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.42;SB=-1819.45;TI=NR_027898;GI=COL6A4P2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2904,208,0:53:99:1.000 chr3 129969817 rs6777871 A G 6296.50 PASS DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6806;MQ=57;MQ0=0;QD=32.29;SB=-3575.33;TI=NR_027898;GI=COL6A4P2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,195:195:99:6296,463,0:57:99:1.000 chr3 129979845 rs896821 T C 2561.51 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.25;SB=-1684.56;TI=NR_027898;GI=COL6A4P2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2595,187,0:52:99:1.000 chr3 129982989 rs9829531 CG C 2450.15 PASS BaseQRankSum=8.176;DP=139;FS=0.633;HRun=1;HaplotypeScore=400.5679;MQ=55;MQ0=0;MQRankSum=-0.697;QD=17.63;ReadPosRankSum=-0.532;SB=-1217.21;TI=NR_027898;GI=COL6A4P2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,66:139:99:2489,0,2356:55:99:0.475 chr3 129982997 rs63280461 CT C 2323.88 PASS BaseQRankSum=9.215;DP=144;FS=0.000;HRun=1;HaplotypeScore=408.8899;MQ=55;MQ0=0;MQRankSum=-0.386;QD=16.14;ReadPosRankSum=0.789;SB=-1130.01;TI=NR_027898;GI=COL6A4P2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,64:144:99:2363,0,2622:55:99:0.448 chr3 129986513 . C T 98.32 SB BaseQRankSum=-1.090;DP=34;Dels=0.03;FS=35.549;HRun=19;HaplotypeScore=40.2465;MQ=40;MQ0=1;MQRankSum=0.210;QD=2.89;ReadPosRankSum=-2.934;SB=-0.01;TI=NR_027898;GI=COL6A4P2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,9:33:99:128,0,587:40:98:0.273 chr3 129986513 . C CTTT 415.31 R8 BaseQRankSum=0.049;DP=34;FS=0.000;HRun=19;HaplotypeScore=283.1136;MQ=40;MQ0=1;MQRankSum=-0.639;QD=12.21;ReadPosRankSum=-1.820;SB=-204.78;TI=NR_027898;GI=COL6A4P2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,12:33:99:454,0,130:40:99:0.480 chr3 129987881 rs7625211 C T 5571.83 PASS DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2586;MQ=55;MQ0=0;QD=30.95;SB=-2519.02;TI=NR_027898;GI=COL6A4P2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,180:180:99:5572,409,0:55:99:1.000 chr3 129988590 rs6806458 A T 6090.52 PASS DP=196;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.07;SB=-2563.13;TI=NR_027898;GI=COL6A4P2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,196:196:99:6091,448,0:56:99:1.000 chr3 129988637 rs6439224 T C 6554.10 PASS DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7865;MQ=54;MQ0=0;QD=30.63;SB=-3013.37;TI=NR_027898;GI=COL6A4P2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,214:214:99:6554,482,0:54:99:1.000 chr3 129990413 rs4688871 A C 4982.75 PASS DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=34.60;SB=-2301.40;TI=NR_027898;GI=COL6A4P2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,144:144:99:4983,373,0:58:99:1.000 chr3 129991663 rs1453254 C T 6444.80 PASS DP=211;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.6526;MQ=54;MQ0=0;QD=30.54;SB=-3902.86;TI=NR_027898;GI=COL6A4P2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,210:211:99:6445,476,0:54:99:1.000 chr3 129992123 rs61733464 G A 3024.58 PASS BaseQRankSum=1.265;DP=240;Dels=0.00;FS=5.755;HRun=1;HaplotypeScore=6.2586;MQ=57;MQ0=0;MQRankSum=0.778;QD=12.60;ReadPosRankSum=-0.473;SB=-1539.55;TI=NR_027898;GI=COL6A4P2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:115,124:240:99:3055,0,3102:57:99:0.519 chr3 130104088 . C T 1202.96 PASS BaseQRankSum=0.233;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.6367;MQ=57;MQ0=0;MQRankSum=-0.576;QD=13.83;ReadPosRankSum=-0.136;SB=-545.39;TI=NR_022012,NM_153264;GI=COL6A5,COL6A5;FC=Silent,Missense_A581V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,41:87:99:1233,0,1216:57:99:0.482 chr3 130116696 rs12488457 A C 9623.74 PASS BaseQRankSum=2.400;DP=349;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.9114;MQ=53;MQ0=0;MQRankSum=-0.701;QD=27.58;ReadPosRankSum=-1.279;SB=-6096.34;TI=NR_022012,NM_153264;GI=COL6A5,COL6A5;FC=Silent,Missense_T1280P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,346:349:99:9624,682,0:53:99:0.994 chr3 130116966 . G T 27.42 LowVariantFreq;SB BaseQRankSum=-2.126;DP=42;Dels=0.00;FS=13.519;HRun=2;HaplotypeScore=43.5130;MQ=37;MQ0=0;MQRankSum=-0.776;QD=0.65;ReadPosRankSum=-2.194;SB=-0.01;TI=NR_022012,NM_153264;GI=COL6A5,COL6A5;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,7:42:57.41:57,0,855:37:27:0.167 chr3 130124491 rs10934940 G A 2181.85 PASS DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=52;MQ0=0;QD=26.61;SB=-1466.52;TI=NR_022012,NM_153264;GI=COL6A5,COL6A5;FC=Silent,Synonymous_A1447A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2215,160,0:52:99:1.000 chr3 130124989 rs4688761 C T 3979.72 PASS DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=56;MQ0=0;QD=32.89;SB=-1962.71;TI=NR_022012,NM_153264;GI=COL6A5,COL6A5;FC=Silent,Synonymous_D1465D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3980,295,0:56:99:1.000 chr3 130125116 rs1497312 G C 4331.03 PASS BaseQRankSum=1.640;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3176;MQ=54;MQ0=0;MQRankSum=1.686;QD=28.68;ReadPosRankSum=-0.254;SB=-2386.33;TI=NR_022012,NM_153264;GI=COL6A5,COL6A5;FC=Silent,Missense_C1477S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,149:151:99:4331,319,0:54:99:0.993 chr3 130134492 rs16827497 T C 1305.54 PASS DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.08;SB=-622.04;TI=NR_022012,NM_153264;GI=COL6A5,COL6A5;FC=Silent,Missense_S1589P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:99:1339,99,0:56:99:1.000 chr3 130162395 rs9883988 A G 2121.35 PASS DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=26.85;SB=-1535.59;TI=NR_022012,NM_153264;GI=COL6A5,COL6A5;FC=Silent,Missense_Q2188R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2154,154,0:53:99:1.000 chr3 130174334 rs819085 G A 2682.45 PASS DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=30.83;SB=-1148.95;TI=NR_022012,NM_153264;GI=COL6A5,COL6A5;FC=Silent,Missense_G2205D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2715,202,0:54:99:1.000 chr3 130187817 rs322113 T C 7058.15 PASS DP=232;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.6208;MQ=56;MQ0=0;QD=30.42;SB=-3619.99;TI=NR_022012,NM_153264;GI=COL6A5,COL6A5;FC=Silent,Synonymous_I2323I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,232:232:99:7058,512,0:56:99:1.000 chr3 130447530 . T TA 167.74 R8 BaseQRankSum=0.119;DP=26;FS=0.000;HRun=16;HaplotypeScore=88.2606;MQ=52;MQ0=0;MQRankSum=-0.239;QD=6.45;ReadPosRankSum=-0.656;SB=-35.35;TI=NM_014602;GI=PIK3R4;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,11:25:88.91:207,0,89:52:89:0.550 chr3 132401600 rs6794496 C T 2065.43 PASS BaseQRankSum=3.467;DP=155;Dels=0.00;FS=4.793;HRun=0;HaplotypeScore=5.5485;MQ=54;MQ0=0;MQRankSum=1.830;QD=13.33;ReadPosRankSum=1.841;SB=-1442.39;TI=NM_153240;GI=NPHP3;FC=Synonymous_L1253L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,87:155:99:2095,0,1660:54:99:0.561 chr3 133167363 rs2276737 G A 683.00 PASS BaseQRankSum=-0.062;DP=53;Dels=0.00;FS=2.316;HRun=0;HaplotypeScore=5.5934;MQ=55;MQ0=0;MQRankSum=-0.560;QD=12.89;ReadPosRankSum=1.219;SB=-399.68;TI=NM_003571;GI=BFSP2;FC=Synonymous_A201A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,27:53:99:713,0,580:55:99:0.509 chr3 133329943 rs1444601 G A 1247.44 PASS BaseQRankSum=0.486;DP=105;Dels=0.00;FS=2.540;HRun=2;HaplotypeScore=3.7878;MQ=54;MQ0=0;MQRankSum=2.647;QD=11.88;ReadPosRankSum=-0.505;SB=-936.84;TI=NM_007027;GI=TOPBP1;FC=Synonymous_L1360L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,57:105:99:1277,0,1052:54:99:0.543 chr3 133356790 rs17301766 G A 1430.22 PASS BaseQRankSum=2.325;DP=121;Dels=0.00;FS=1.456;HRun=1;HaplotypeScore=7.3475;MQ=51;MQ0=0;MQRankSum=0.383;QD=11.82;ReadPosRankSum=0.724;SB=-934.97;TI=NM_007027;GI=TOPBP1;FC=Missense_S817L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,61:121:99:1460,0,1496:51:99:0.508 chr3 133362154 rs17301889 A G 2788.60 PASS BaseQRankSum=2.066;DP=226;Dels=0.00;FS=1.034;HRun=2;HaplotypeScore=4.7851;MQ=55;MQ0=0;MQRankSum=-0.039;QD=12.34;ReadPosRankSum=0.771;SB=-2002.78;TI=NM_007027;GI=TOPBP1;FC=Synonymous_V637V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,121:226:99:2819,0,2524:55:99:0.535 chr3 133368362 rs3192149 T G 2091.78 PASS BaseQRankSum=2.681;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=1.071;QD=11.56;ReadPosRankSum=2.187;SB=-1363.92;TI=NM_007027;GI=TOPBP1;FC=Missense_K457Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,88:181:99:2122,0,2464:58:99:0.486 chr3 133465283 rs1130459 A G 871.17 PASS BaseQRankSum=0.870;DP=87;Dels=0.00;FS=0.820;HRun=1;HaplotypeScore=6.9811;MQ=52;MQ0=0;MQRankSum=1.069;QD=10.01;ReadPosRankSum=1.588;SB=-472.17;TI=NM_001063;GI=TF;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,35:87:99:901,0,1278:52:99:0.402 chr3 133485133 rs2692696 A G 3480.07 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=30.00;SB=-2167.05;TI=NM_001063;GI=TF;FC=Missense_I448V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3480,250,0:53:99:1.000 chr3 133486958 rs8649 G C 2095.48 PASS BaseQRankSum=1.980;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5486;MQ=53;MQ0=0;MQRankSum=0.723;QD=12.18;ReadPosRankSum=1.051;SB=-1156.65;TI=NM_001063;GI=TF;FC=Synonymous_L524L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,83:172:99:2125,0,2370:53:99:0.483 chr3 133666209 rs34550074 C T 2512.40 PASS BaseQRankSum=-1.411;DP=233;Dels=0.00;FS=1.013;HRun=2;HaplotypeScore=14.6385;MQ=53;MQ0=0;MQRankSum=2.057;QD=10.78;ReadPosRankSum=-0.579;SB=-1908.96;TI=NM_005630;GI=SLCO2A1;FC=Missense_A396T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,119:233:99:2542,0,2723:53:99:0.513 chr3 133670073 rs6767412 T C 956.08 PASS BaseQRankSum=2.501;DP=79;Dels=0.00;FS=1.888;HRun=1;HaplotypeScore=2.8271;MQ=51;MQ0=0;MQRankSum=-0.987;QD=12.10;ReadPosRankSum=-0.366;SB=-685.15;TI=NM_005630;GI=SLCO2A1;FC=Synonymous_R280R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,42:79:99:986,0,864:51:99:0.538 chr3 133692497 rs4634113 A G 578.28 LowDP DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.44;SB=-187.72;TI=NM_005630;GI=SLCO2A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:19:45.15:611,45,0:57:45:1.000 chr3 133877113 rs56088702 A G 1428.69 PASS BaseQRankSum=1.274;DP=127;Dels=0.00;FS=1.454;HRun=1;HaplotypeScore=4.5979;MQ=56;MQ0=0;MQRankSum=1.356;QD=11.25;ReadPosRankSum=0.312;SB=-706.46;TI=NM_001005861,NM_002958;GI=RYK,RYK;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,59:127:99:1459,0,1570:56:99:0.465 chr3 134266321 rs11927068 A G 900.31 PASS BaseQRankSum=1.463;DP=46;Dels=0.00;FS=3.105;HRun=0;HaplotypeScore=5.8595;MQ=55;MQ0=0;MQRankSum=0.288;QD=19.57;ReadPosRankSum=1.138;SB=-505.90;TI=NM_001042383,NM_001042384,NM_001042400,NM_025180;GI=CEP63,CEP63,CEP63,CEP63;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,34:46:99:930,0,270:55:99:0.739 chr3 134277195 rs35934324 A AT 386.01 PASS BaseQRankSum=-1.474;DP=35;FS=0.000;HRun=6;HaplotypeScore=68.9153;MQ=59;MQ0=0;MQRankSum=-0.381;QD=11.03;ReadPosRankSum=-0.116;SB=-158.70;TI=NM_001042383,NM_001042384,NM_001042400,NM_025180;GI=CEP63,CEP63,CEP63,CEP63;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,15:35:99:425,0,566:59:99:0.429 chr3 134278270 rs1127826 C T 144.58 PASS BaseQRankSum=0.076;DP=20;Dels=0.00;FS=13.024;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.760;QD=7.23;ReadPosRankSum=0.988;SB=-114.15;TI=NM_001042383,NM_001042384,NM_001042400,NM_025180;GI=CEP63,CEP63,CEP63,CEP63;FC=Silent,Silent,Silent,Missense_S651L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,9:20:99:175,0,349:60:99:0.450 chr3 136573440 rs9827648 A G 1642.81 PASS BaseQRankSum=1.213;DP=130;Dels=0.00;FS=0.723;HRun=2;HaplotypeScore=7.2021;MQ=56;MQ0=0;MQRankSum=0.359;QD=12.64;ReadPosRankSum=-0.210;SB=-607.24;TI=NM_001097600,NM_001097599,NM_025246;GI=TMEM22,TMEM22,TMEM22;FC=Synonymous_G46G,Synonymous_G46G,Synonymous_G46G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,61:130:99:1673,0,1862:56:99:0.469 chr3 136574501 rs1052618 A G 1017.80 PASS BaseQRankSum=0.985;DP=79;Dels=0.00;FS=1.223;HRun=1;HaplotypeScore=3.6821;MQ=58;MQ0=0;MQRankSum=-1.649;QD=12.88;ReadPosRankSum=0.302;SB=-198.49;TI=NM_001097600,NM_001097599,NM_025246;GI=TMEM22,TMEM22,TMEM22;FC=Missense_K400R,Missense_K400R,Missense_K400R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,34:79:99:1048,0,1345:58:99:0.430 chr3 136574521 rs1052620 C T 1005.88 PASS BaseQRankSum=1.849;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5641;MQ=59;MQ0=0;MQRankSum=0.043;QD=13.59;ReadPosRankSum=-1.316;SB=-131.30;TI=NM_001097600,NM_001097599,NM_025246;GI=TMEM22,TMEM22,TMEM22;FC=Synonymous_L407L,Synonymous_L407L,Synonymous_L407L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,33:74:99:1036,0,1272:59:99:0.446 chr3 137843106 rs2170309 T C 2143.91 PASS DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=30.20;SB=-942.35;TI=NM_016161;GI=A4GNT;FC=Synonymous_X341X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:2177,160,0:56:99:1.000 chr3 137843476 rs2246945 G T 2579.07 PASS DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7838;MQ=56;MQ0=0;QD=32.24;SB=-1527.57;TI=NM_016161;GI=A4GNT;FC=Missense_A218D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2612,193,0:56:99:1.000 chr3 137850003 rs2724691 A G 3273.92 PASS DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8930;MQ=55;MQ0=0;QD=30.31;SB=-1340.87;TI=NM_016161;GI=A4GNT;FC=Synonymous_C32C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:3274,238,0:55:99:1.000 chr3 138433568 rs497900 C T 1329.64 PASS BaseQRankSum=1.634;DP=99;Dels=0.00;FS=0.748;HRun=0;HaplotypeScore=8.2953;MQ=54;MQ0=0;MQRankSum=1.015;QD=13.43;ReadPosRankSum=0.601;SB=-912.17;TI=NM_006219;GI=PIK3CB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,54:99:99:1360,0,1129:54:99:0.545 chr3 138664611 . C T 3.53 LowGQX;SB;LowDP BaseQRankSum=0.727;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=-0.727;QD=0.88;ReadPosRankSum=-0.727;SB=-0.01;TI=NM_023067;GI=FOXL2;FC=Synonymous_P318P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,1:4:30.98:31,0,75:55:4:0.250 chr3 138664612 . G C 3.53 LowGQX;SB;LowDP BaseQRankSum=0.727;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=-0.727;QD=0.88;ReadPosRankSum=-0.727;SB=-0.01;TI=NM_023067;GI=FOXL2;FC=Missense_P318R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,1:4:30.98:31,0,75:55:4:0.250 chr3 140167536 rs2081803 A G 3163.35 PASS BaseQRankSum=2.406;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5596;MQ=56;MQ0=0;MQRankSum=2.318;QD=28.24;ReadPosRankSum=1.439;SB=-1906.39;TI=NM_022131;GI=CLSTN2;FC=Synonymous_Q321Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,110:112:99:3196,232,0:56:99:0.982 chr3 140178485 rs7632885 G A 3524.63 PASS DP=119;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=8.3691;MQ=55;MQ0=0;QD=29.62;SB=-1958.23;TI=NM_022131;GI=CLSTN2;FC=Missense_V366I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,119:119:99:3525,262,0:55:99:1.000 chr3 140281723 rs11714465 C T 4332.70 PASS BaseQRankSum=1.622;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=51;MQ0=0;MQRankSum=1.710;QD=27.60;ReadPosRankSum=-1.688;SB=-2656.27;TI=NM_022131;GI=CLSTN2;FC=Synonymous_S761S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,156:157:99:4333,310,0:51:99:0.994 chr3 140282861 rs10804675 C T 6904.01 PASS DP=245;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1232;MQ=54;MQ0=0;QD=28.18;SB=-4588.29;TI=NM_022131;GI=CLSTN2;FC=Synonymous_V847V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,244:245:99:6904,500,0:54:99:1.000 chr3 142168331 rs1802904 C T 5637.71 PASS DP=201;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=28.05;SB=-3796.61;TI=NM_001184;GI=ATR;FC=Synonymous_Q2625Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,201:201:99:5638,400,0:52:99:1.000 chr3 143293012 rs6763202 A G 796.38 PASS BaseQRankSum=0.351;DP=71;Dels=0.00;FS=0.896;HRun=0;HaplotypeScore=2.6548;MQ=56;MQ0=0;MQRankSum=1.489;QD=11.22;ReadPosRankSum=-1.570;SB=-537.73;TI=NM_173653;GI=SLC9A9;FC=Synonymous_C306C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,35:71:99:826,0,809:56:99:0.493 chr3 145838895 rs4681297 C T 1479.68 PASS BaseQRankSum=0.220;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-0.472;QD=26.90;ReadPosRankSum=-1.669;SB=-881.42;TI=NM_000935,NM_182943;GI=PLOD2,PLOD2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,54:55:73.73:1513,74,0:58:74:0.982 chr3 148459395 rs5182 C T 1741.54 PASS BaseQRankSum=-2.113;DP=145;Dels=0.00;FS=1.335;HRun=1;HaplotypeScore=9.1959;MQ=57;MQ0=0;MQRankSum=0.404;QD=12.01;ReadPosRankSum=0.105;SB=-840.00;TI=NM_004835,NM_031850,NM_000685,NM_009585,NM_032049;GI=AGTR1,AGTR1,AGTR1,AGTR1,AGTR1;FC=Synonymous_L191L,Synonymous_L191L,Synonymous_L191L,Synonymous_L191L,Synonymous_L191L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,65:145:99:1772,0,2318:57:99:0.448 chr3 148727133 rs4938 G A 895.39 PASS BaseQRankSum=-0.711;DP=89;Dels=0.00;FS=0.810;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=0.376;QD=10.06;ReadPosRankSum=1.154;SB=-590.20;TI=NM_001184721,NM_004130,NM_001184720;GI=GYG1,GYG1,GYG1;FC=Synonymous_P184P,Synonymous_P184P,Synonymous_P184P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,41:89:99:925,0,1078:51:99:0.466 chr3 148872987 rs6440589 G A 908.55 PASS BaseQRankSum=1.773;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.647;QD=11.95;ReadPosRankSum=0.794;SB=-294.38;TI=NM_032383;GI=HPS3;FC=Synonymous_Q498Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,32:76:99:939,0,1148:54:99:0.421 chr3 148880229 rs67649453 CAG C 2048.56 PASS BaseQRankSum=-0.341;DP=84;FS=2.982;HRun=0;HaplotypeScore=31.1634;MQ=60;MQ0=0;MQRankSum=0.726;QD=24.39;ReadPosRankSum=-0.404;SB=-674.43;TI=NM_032383;GI=HPS3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,45:84:99:2088,0,1792:60:99:0.536 chr3 148885779 rs11426099 A AT 288.45 R8 BaseQRankSum=1.878;DP=31;FS=0.000;HRun=10;HaplotypeScore=55.9707;MQ=59;MQ0=0;MQRankSum=-0.613;QD=9.30;ReadPosRankSum=-0.613;SB=-132.20;TI=NM_032383;GI=HPS3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,15:31:99:327,0,378:59:99:0.484 chr3 148916235 rs701753;rs74732447 T A 7549.03 PASS BaseQRankSum=1.603;DP=250;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.8744;MQ=52;MQ0=8;MQRankSum=1.446;QD=30.20;ReadPosRankSum=-0.487;SB=-3550.85;TI=NM_000096;GI=CP;FC=Missense_E544D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,249:250:99:7549,569,0:52:99:0.996 chr3 148924064 rs34624984 G A 1879.63 PASS BaseQRankSum=0.875;DP=188;Dels=0.00;FS=0.541;HRun=0;HaplotypeScore=5.3097;MQ=54;MQ0=0;MQRankSum=-1.004;QD=10.00;ReadPosRankSum=0.244;SB=-1429.78;TI=NM_000096;GI=CP;FC=Missense_R367C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,89:188:99:1910,0,2543:54:99:0.473 chr3 150645351 rs4680058 G A 990.03 PASS BaseQRankSum=0.093;DP=109;Dels=0.00;FS=1.642;HRun=1;HaplotypeScore=5.6581;MQ=58;MQ0=0;MQRankSum=0.909;QD=9.08;ReadPosRankSum=2.153;SB=-561.50;TI=NM_052995,NM_174878,NM_001195794;GI=CLRN1,CLRN1,CLRN1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,42:109:99:1020,0,1617:58:99:0.393 chr3 150645408 rs1456138 G A 826.86 PASS BaseQRankSum=0.586;DP=73;Dels=0.00;FS=0.977;HRun=2;HaplotypeScore=9.8744;MQ=59;MQ0=0;MQRankSum=-0.340;QD=11.33;ReadPosRankSum=0.006;SB=-364.34;TI=NM_052995,NM_174878,NM_001195794;GI=CLRN1,CLRN1,CLRN1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,31:73:99:857,0,1290:59:99:0.425 chr3 150645446 rs75841411 C T 149.49 LowVariantFreq;SB BaseQRankSum=-0.839;DP=143;Dels=0.00;FS=14.203;HRun=0;HaplotypeScore=15.8824;MQ=54;MQ0=0;MQRankSum=1.695;QD=1.05;ReadPosRankSum=-0.492;SB=-0.01;TI=NM_052995,NM_174878,NM_001195794;GI=CLRN1,CLRN1,CLRN1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,14:143:99:179,0,3862:54:99:0.098 chr3 150645448 . T C 109.93 LowVariantFreq;SB BaseQRankSum=0.337;DP=164;Dels=0.00;FS=21.322;HRun=0;HaplotypeScore=15.8824;MQ=54;MQ0=0;MQRankSum=2.048;QD=0.67;ReadPosRankSum=-0.799;SB=-0.01;TI=NM_052995,NM_174878,NM_001195794;GI=CLRN1,CLRN1,CLRN1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:149,15:164:99:140,0,4489:54:99:0.091 chr3 150663334 rs10935822 T C 3382.63 PASS BaseQRankSum=2.001;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4754;MQ=51;MQ0=0;MQRankSum=0.303;QD=26.85;ReadPosRankSum=0.478;SB=-2243.88;TI=NM_174878,NM_001195794;GI=CLRN1,CLRN1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,124:126:99:3383,208,0:51:99:0.984 chr3 150663450 rs6806039 T C 2127.43 PASS DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=28.37;SB=-1350.97;TI=NM_174878,NM_001195794;GI=CLRN1,CLRN1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2160,157,0:58:99:1.000 chr3 150690439 rs3796242 T A 2130.24 PASS BaseQRankSum=-0.484;DP=229;Dels=0.00;FS=2.351;HRun=1;HaplotypeScore=8.2009;MQ=57;MQ0=0;MQRankSum=-0.185;QD=9.30;ReadPosRankSum=0.531;SB=-1116.39;TI=NM_174878,NM_001195794;GI=CLRN1,CLRN1;FC=Synonymous_A19A,Synonymous_A19A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:133,96:229:99:2160,0,3784:57:99:0.419 chr3 150690566 rs3796240 T C 2363.53 PASS BaseQRankSum=2.179;DP=174;Dels=0.00;FS=6.362;HRun=2;HaplotypeScore=8.2189;MQ=57;MQ0=0;MQRankSum=0.588;QD=13.58;ReadPosRankSum=-1.241;SB=-590.05;TI=NM_174878,NM_001195794,NR_024066;GI=CLRN1,CLRN1,CLRN1OS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,84:174:99:2394,0,2386:57:99:0.486 chr3 151056598 rs6809699 A C 398.78 SB;LowDP DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=33.23;SB=-0.01;TI=NM_053002,NM_176876,NM_022788;GI=MED12L,P2RY12,P2RY12;FC=Silent,Synonymous_G12G,Synonymous_G12G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,12:12:36.09:432,36,0:58:36:1.000 chr3 151056616 rs6785930 G A 145.51 SB;LowDP BaseQRankSum=0.729;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.159;QD=16.17;ReadPosRankSum=0.361;SB=-0.01;TI=NM_053002,NM_176876,NM_022788;GI=MED12L,P2RY12,P2RY12;FC=Silent,Synonymous_N6N,Synonymous_N6N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,5:9:99:176,0,128:57:99:0.556 chr3 151463421 rs1972977 G T 4128.49 PASS DP=140;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.49;SB=-2655.32;TI=NR_031678,NM_207365;GI=MIR548H2,AADACL2;FC=Silent,Missense_A186S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,140:140:99:4128,298,0:56:99:1.000 chr3 151545601 rs1803155 G A 1204.29 PASS DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=38.85;SB=-551.78;TI=NM_001086;GI=AADAC;FC=Missense_V281I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,31:31:93.30:1237,93,0:59:93:1.000 chr3 154018887 rs9438 G C 1703.21 PASS BaseQRankSum=2.091;DP=133;Dels=0.00;FS=1.410;HRun=0;HaplotypeScore=4.4704;MQ=54;MQ0=0;MQRankSum=2.983;QD=12.81;ReadPosRankSum=1.500;SB=-1005.52;TI=NM_020865,NM_001114397;GI=DHX36,DHX36;FC=Missense_S416C,Missense_S416C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,66:133:99:1733,0,1618:54:99:0.500 chr3 154866453 rs1436633 T C 823.86 PASS BaseQRankSum=-1.182;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=2.410;QD=14.20;ReadPosRankSum=1.400;SB=-336.98;TI=NM_000902,NM_007287,NM_007288,NM_007289;GI=MME,MME,MME,MME;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,29:58:99:854,0,699:56:99:0.500 chr3 155571275 rs3804769 T C 2018.92 PASS BaseQRankSum=0.232;DP=147;Dels=0.00;FS=5.033;HRun=1;HaplotypeScore=5.3371;MQ=55;MQ0=0;MQRankSum=1.083;QD=13.73;ReadPosRankSum=-0.150;SB=-1214.69;TI=NM_004733,NM_001190992;GI=SLC33A1,SLC33A1;FC=Missense_D171G,Missense_D171G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,81:147:99:2049,0,1780:55:99:0.555 chr3 158362441 rs1864507 T C 660.52 PASS BaseQRankSum=-2.315;DP=61;Dels=0.00;FS=7.136;HRun=1;HaplotypeScore=4.3262;MQ=57;MQ0=0;MQRankSum=0.296;QD=10.83;ReadPosRankSum=0.469;SB=-437.39;TI=NM_024996;GI=GFM1;FC=Synonymous_A6A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,30:61:99:691,0,851:57:99:0.492 chr3 158366900 rs2303909 G A 1558.99 PASS BaseQRankSum=-0.323;DP=108;Dels=0.00;FS=12.718;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=-0.052;QD=14.44;ReadPosRankSum=0.243;SB=-745.23;TI=NM_024996;GI=GFM1;FC=Missense_V215I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,58:108:99:1589,0,1306:55:99:0.537 chr3 158409262 rs1047355 C T 840.32 PASS BaseQRankSum=-0.074;DP=91;Dels=0.00;FS=0.803;HRun=2;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.254;QD=9.23;ReadPosRankSum=-0.541;SB=-594.75;TI=NM_024996;GI=GFM1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,37:91:99:870,0,1326:53:99:0.411 chr3 159976432 . G GA 440.86 R8 BaseQRankSum=2.014;DP=66;FS=0.000;HRun=10;HaplotypeScore=86.4659;MQ=58;MQ0=0;MQRankSum=0.584;QD=6.68;ReadPosRankSum=-1.332;SB=-187.41;TI=NM_001190242,NM_020800,NM_001190241;GI=IFT80,IFT80,IFT80;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,23:66:99:480,0,842:58:99:0.404 chr3 159997061 rs6778728 T A 901.78 PASS BaseQRankSum=2.251;DP=68;Dels=0.00;FS=3.784;HRun=0;HaplotypeScore=2.9856;MQ=57;MQ0=0;MQRankSum=0.031;QD=13.26;ReadPosRankSum=1.159;SB=-219.98;TI=NM_001190242,NM_020800,NM_001190241;GI=IFT80,IFT80,IFT80;FC=Missense_T449S,Missense_T586S,Missense_T449S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,34:68:99:932,0,903:57:99:0.500 chr3 164714532 rs4855271 C T 2576.04 PASS DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=32.20;SB=-1363.81;TI=NM_001041;GI=SI;FC=Missense_M1523I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2609,193,0:58:99:1.000 chr3 164748665 . C A 18.09 SB;LowDP BaseQRankSum=1.067;DP=8;Dels=0.00;FS=0.000;HRun=13;HaplotypeScore=4.6394;MQ=44;MQ0=0;MQRankSum=-0.572;QD=2.26;ReadPosRankSum=0.572;SB=-0.01;TI=NM_001041;GI=SI;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,2:8:48.02:48,0,90:44:18:0.250 chr3 164764719 rs9838509 C A 2117.83 PASS BaseQRankSum=0.466;DP=164;Dels=0.00;FS=2.111;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=0.400;QD=12.91;ReadPosRankSum=2.324;SB=-828.65;TI=NM_001041;GI=SI;FC=Synonymous_A599A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,84:164:99:2148,0,2023:51:99:0.512 chr3 164773057 rs9290257 G A 2135.82 PASS BaseQRankSum=3.563;DP=183;Dels=0.00;FS=2.678;HRun=0;HaplotypeScore=1.8888;MQ=53;MQ0=0;MQRankSum=1.342;QD=11.67;ReadPosRankSum=0.130;SB=-1198.56;TI=NM_001041;GI=SI;FC=Synonymous_N479N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,88:183:99:2166,0,2498:53:99:0.481 chr3 164783165 rs9283633 T C 1953.48 PASS BaseQRankSum=2.204;DP=192;Dels=0.00;FS=3.952;HRun=0;HaplotypeScore=6.3369;MQ=53;MQ0=0;MQRankSum=0.831;QD=10.17;ReadPosRankSum=0.767;SB=-507.10;TI=NM_001041;GI=SI;FC=Missense_T231A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,75:192:99:1983,0,3083:53:99:0.391 chr3 164786629 rs11313475 TA T 389.95 PASS BaseQRankSum=-0.237;DP=49;FS=2.617;HRun=8;HaplotypeScore=49.3750;MQ=59;MQ0=0;MQRankSum=0.647;QD=7.96;ReadPosRankSum=-0.280;SB=-184.80;TI=NM_001041;GI=SI;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,17:49:99:429,0,839:59:99:0.354 chr3 164793758 rs9290264 C A 1642.06 PASS BaseQRankSum=0.389;DP=155;Dels=0.00;FS=1.267;HRun=2;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=0.439;QD=10.59;ReadPosRankSum=-0.518;SB=-1162.41;TI=NM_001041;GI=SI;FC=Missense_V15F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,74:155:99:1672,0,2017:57:99:0.477 chr3 167508198 rs61750375 G A 577.88 PASS BaseQRankSum=0.265;DP=46;Dels=0.00;FS=2.721;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=2.029;QD=12.56;ReadPosRankSum=0.309;SB=-353.63;TI=NM_001122752,NM_005025;GI=SERPINI1,SERPINI1;FC=Missense_V97I,Missense_V97I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,25:46:99:608,0,486:60:99:0.543 chr3 170715683 . G GT 35.89 R8;SB BaseQRankSum=1.175;DP=24;FS=0.000;HRun=10;HaplotypeScore=34.3071;MQ=57;MQ0=0;MQRankSum=1.332;QD=1.50;ReadPosRankSum=-1.175;SB=-0.00;TI=NM_000340;GI=SLC2A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,5:23:74.92:75,0,395:57:36:0.227 chr3 172165727 rs572169 C T 1880.06 PASS DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7879;MQ=59;MQ0=0;QD=35.47;SB=-805.09;TI=NM_198407,NM_004122;GI=GHSR,GHSR;FC=Synonymous_R159R,Synonymous_R159R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1913,147,0:59:99:1.000 chr3 172166033 rs495225 G A 4614.35 PASS DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2227;MQ=55;MQ0=0;QD=30.97;SB=-2518.67;TI=NM_198407,NM_004122;GI=GHSR,GHSR;FC=Synonymous_G57G,Synonymous_G57G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:149:99:4614,340,0:55:99:1.000 chr3 172835082 rs16846616 C T 3407.17 PASS BaseQRankSum=-0.878;DP=274;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2985;MQ=55;MQ0=0;MQRankSum=2.183;QD=12.43;ReadPosRankSum=-0.768;SB=-2169.88;TI=NM_031955;GI=SPATA16;FC=Missense_G147E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,138:274:99:3407,0,3440:55:99:0.504 chr3 172835125 rs1515442 T C 3185.70 PASS BaseQRankSum=0.857;DP=270;Dels=0.00;FS=0.931;HRun=0;HaplotypeScore=6.4699;MQ=54;MQ0=0;MQRankSum=-0.609;QD=11.80;ReadPosRankSum=0.277;SB=-2075.88;TI=NM_031955;GI=SPATA16;FC=Missense_M133V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:140,130:270:99:3216,0,3722:54:99:0.481 chr3 172835290 rs1515441 C T 2425.04 PASS BaseQRankSum=3.294;DP=202;Dels=0.00;FS=5.044;HRun=1;HaplotypeScore=5.4571;MQ=57;MQ0=0;MQRankSum=2.384;QD=12.01;ReadPosRankSum=0.433;SB=-1458.18;TI=NM_031955;GI=SPATA16;FC=Missense_E78K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,99:202:99:2455,0,2796:57:99:0.490 chr3 173997153 rs7646919 G A 2572.24 PASS BaseQRankSum=-2.003;DP=200;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=9.1392;MQ=55;MQ0=0;MQRankSum=-0.745;QD=12.86;ReadPosRankSum=1.112;SB=-1606.17;TI=NM_014932;GI=NLGN1;FC=Synonymous_K454K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,102:200:99:2602,0,2600:55:99:0.513 chr3 176756230 rs77478951 G A 984.42 PASS BaseQRankSum=0.899;DP=70;Dels=0.00;FS=6.513;HRun=3;HaplotypeScore=3.8288;MQ=55;MQ0=0;MQRankSum=2.459;QD=14.06;ReadPosRankSum=1.892;SB=-667.87;TI=NM_024665;GI=TBL1XR1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,39:70:99:1014,0,825:55:99:0.557 chr3 176765269 rs3749234 T C 1793.97 PASS BaseQRankSum=0.466;DP=113;Dels=0.00;FS=0.740;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-1.100;QD=15.88;ReadPosRankSum=1.205;SB=-916.19;TI=NM_024665;GI=TBL1XR1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,68:113:99:1824,0,1218:58:99:0.602 chr3 178968660 rs1170672 T C 1277.78 PASS BaseQRankSum=-0.246;DP=130;Dels=0.00;FS=2.273;HRun=1;HaplotypeScore=6.3581;MQ=51;MQ0=0;MQRankSum=1.296;QD=9.83;ReadPosRankSum=-0.351;SB=-735.60;TI=NR_028135,NM_001163677,NM_014407,NM_171830,NM_171829,NM_171828;GI=KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3,KCNMB3;FC=Silent,Missense_D42G,Missense_D44G,Missense_D40G,Missense_D22G,Missense_D42G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,54:130:99:1308,0,1820:51:99:0.419 chr3 180334623 rs7612917 C T 902.49 PASS BaseQRankSum=2.738;DP=77;Dels=0.00;FS=0.854;HRun=1;HaplotypeScore=1.8100;MQ=56;MQ0=0;MQRankSum=1.412;QD=11.72;ReadPosRankSum=-0.393;SB=-498.41;TI=NM_181426;GI=CCDC39;FC=Synonymous_V799V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,37:77:99:932,0,1104:56:99:0.481 chr3 180365956 rs6769457 G A 1277.66 PASS BaseQRankSum=-0.062;DP=81;Dels=0.00;FS=4.389;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=3.180;QD=15.77;ReadPosRankSum=0.348;SB=-546.84;TI=NM_181426;GI=CCDC39;FC=Synonymous_S453S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,46:81:99:1308,0,771:54:99:0.568 chr3 180702240 rs1051411 C T 3178.62 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6746;MQ=58;MQ0=0;QD=34.93;SB=-1417.92;TI=NM_001190233,NR_033722,NR_033721,NM_145261,NR_033723;GI=DNAJC19,DNAJC19,DNAJC19,DNAJC19,DNAJC19;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:3212,241,0:58:99:1.000 chr3 182755209 rs2270968 T G 379.14 PASS BaseQRankSum=-0.133;DP=57;Dels=0.00;FS=2.561;HRun=1;HaplotypeScore=1.7608;MQ=52;MQ0=0;MQRankSum=1.323;QD=6.65;ReadPosRankSum=-0.311;SB=-163.71;TI=NM_020166;GI=MCCC1;FC=Missense_H464P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,16:57:99:409,0,1003:52:99:0.281 chr3 182790249 rs7622479 G A 2741.10 PASS DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=26.36;SB=-1731.43;TI=NM_020166;GI=MCCC1;FC=Synonymous_L132L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:104:99:2774,196,0:55:99:1.000 chr3 182925404 rs6804951 T C 1859.25 PASS BaseQRankSum=0.583;DP=151;Dels=0.00;FS=8.392;HRun=1;HaplotypeScore=5.3645;MQ=55;MQ0=0;MQRankSum=0.017;QD=12.31;ReadPosRankSum=-0.289;SB=-876.99;TI=NM_015078;GI=MCF2L2;FC=Missense_T902A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,73:151:99:1889,0,2082:55:99:0.483 chr3 183027542 rs7639705 T G 1616.33 PASS BaseQRankSum=0.701;DP=149;Dels=0.00;FS=1.311;HRun=0;HaplotypeScore=4.5658;MQ=54;MQ0=0;MQRankSum=1.806;QD=10.85;ReadPosRankSum=2.304;SB=-946.44;TI=NM_015078;GI=MCF2L2;FC=Missense_I359L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,72:149:99:1646,0,1753:54:99:0.483 chr3 183558402 rs3732581 C G 357.44 PASS BaseQRankSum=0.683;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6770;MQ=53;MQ0=0;MQRankSum=-0.774;QD=7.77;ReadPosRankSum=-0.660;SB=-248.64;TI=NM_001037639,NM_018622;GI=PARL,PARL;FC=Missense_V212L,Missense_V262L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,17:46:99:387,0,799:53:99:0.370 chr3 183560195 rs13091 A G 1603.81 PASS BaseQRankSum=0.893;DP=120;Dels=0.00;FS=1.506;HRun=0;HaplotypeScore=2.7776;MQ=52;MQ0=0;MQRankSum=-0.429;QD=13.37;ReadPosRankSum=0.397;SB=-1272.58;TI=NM_001037639,NM_018622;GI=PARL,PARL;FC=Silent,Synonymous_H216H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,74:120:99:1634,0,1105:52:99:0.617 chr3 183774762 rs6766410 C A 616.05 PASS BaseQRankSum=1.263;DP=50;Dels=0.02;FS=0.000;HRun=2;HaplotypeScore=19.3965;MQ=58;MQ0=0;MQRankSum=0.374;QD=12.32;ReadPosRankSum=-1.020;SB=-422.63;TI=NM_130770;GI=HTR3C;FC=Missense_N163K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,28:49:99:646,0,471:58:99:0.571 chr3 183778010 rs6807362 G C 2707.02 PASS DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4701;MQ=55;MQ0=0;QD=25.78;SB=-1746.25;TI=NM_130770;GI=HTR3C;FC=Missense_G405A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:105:99:2740,196,0:55:99:1.000 chr3 183818221 rs5855015 AG A 1584.17 PASS BaseQRankSum=0.117;DP=83;FS=7.039;HRun=3;HaplotypeScore=46.5176;MQ=57;MQ0=0;MQRankSum=1.004;QD=19.09;ReadPosRankSum=1.546;SB=-509.39;TI=NM_182589;GI=HTR3E;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,46:83:99:1623,0,1217:57:99:0.554 chr3 183818416 rs7627615 G A 4119.72 PASS BaseQRankSum=2.334;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1558;MQ=53;MQ0=0;MQRankSum=0.602;QD=27.65;ReadPosRankSum=0.074;SB=-2071.16;TI=NM_182589;GI=HTR3E;FC=Missense_A86T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,147:149:99:4120,274,0:53:99:0.987 chr3 183823576 rs4912524 T C 2003.94 PASS BaseQRankSum=1.675;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6371;MQ=57;MQ0=0;MQRankSum=1.675;QD=33.40;ReadPosRankSum=-1.328;SB=-601.68;TI=NM_182589;GI=HTR3E;FC=Synonymous_S263S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,59:60:99:2037,150,0:57:99:0.983 chr3 183861243 rs843358 A G 1152.06 PASS BaseQRankSum=1.558;DP=110;Dels=0.00;FS=1.557;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;MQRankSum=0.731;QD=10.47;ReadPosRankSum=1.133;SB=-780.49;TI=NM_003907;GI=EIF2B5;FC=Missense_I587V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,51:110:99:1182,0,1334:50:99:0.464 chr3 184037533 rs13319149 A G 5156.06 PASS DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.5951;MQ=54;MQ0=0;QD=27.57;SB=-3294.97;TI=NM_198244,NM_198241,NM_001194947,NM_198242,NM_001194946,NM_182917;GI=EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1;FC=Missense_T74A,Missense_T161A,Missense_T168A,Silent,Missense_T168A,Missense_T161A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,186:187:99:5156,373,0:54:99:1.000 chr3 184039666 rs2178403 A G 3454.97 PASS DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6443;MQ=53;MQ0=0;QD=31.41;SB=-1578.03;TI=NM_198244,NM_198241,NM_001194947,NM_198242,NM_001194946,NM_182917,NM_004953;GI=EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1;FC=Missense_M345V,Missense_M432V,Missense_M439V,Missense_M268V,Missense_M439V,Missense_M432V,Missense_M236V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:3455,253,0:53:99:1.000 chr3 184045799 rs939317 A G 1146.74 PASS DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.18;SB=-410.90;TI=NM_198244,NM_198241,NM_001194947,NM_198242,NM_001194946,NM_182917,NM_004953;GI=EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1,EIF4G1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,38:38:87.27:1180,87,0:57:87:1.000 chr3 184071063 rs9820367 G C 2121.89 PASS BaseQRankSum=0.214;DP=175;Dels=0.00;FS=2.647;HRun=0;HaplotypeScore=11.7870;MQ=56;MQ0=0;MQRankSum=-0.178;QD=12.13;ReadPosRankSum=-1.817;SB=-1295.71;TI=NM_001171089,NM_001171088,NM_004366,NM_001171087;GI=CLCN2,CLCN2,CLCN2,CLCN2;FC=Missense_T668S,Missense_T624S,Missense_T668S,Missense_T651S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,84:175:99:2152,0,2268:56:99:0.480 chr3 184075047 rs2228291 A G 3272.72 PASS DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8049;MQ=53;MQ0=0;QD=27.97;SB=-2140.81;TI=NM_001171089,NM_001171088,NM_004366,NM_001171087;GI=CLCN2,CLCN2,CLCN2,CLCN2;FC=Synonymous_I302I,Synonymous_I258I,Synonymous_I302I,Synonymous_I302I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:117:99:3273,241,0:53:99:1.000 chr3 186337713 rs4917 T C 2794.14 PASS DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=27.66;SB=-1622.21;TI=NM_001622;GI=AHSG;FC=Missense_M248T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2827,202,0:50:99:1.000 chr3 186338382 rs4918 G C 3922.85 PASS DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4870;MQ=56;MQ0=0;QD=31.89;SB=-2163.95;TI=NM_001622;GI=AHSG;FC=Missense_S256T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:123:99:3923,289,0:56:99:1.000 chr3 186338425 rs1071592 A C 5128.39 PASS DP=170;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.7668;MQ=56;MQ0=0;QD=30.17;SB=-3004.56;TI=NM_001622;GI=AHSG;FC=Synonymous_T270T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:170:99:5128,376,0:56:99:1.000 chr3 186390627 rs9898 C T 1093.38 PASS BaseQRankSum=-0.243;DP=137;Dels=0.00;FS=0.668;HRun=0;HaplotypeScore=0.9894;MQ=52;MQ0=0;MQRankSum=0.524;QD=7.98;ReadPosRankSum=1.104;SB=-557.18;TI=NM_000412;GI=HRG;FC=Missense_P204S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,47:137:99:1123,0,2239:52:99:0.343 chr3 186395113 rs2228243 A G 4011.78 PASS BaseQRankSum=0.745;DP=323;Dels=0.00;FS=1.337;HRun=0;HaplotypeScore=10.5437;MQ=55;MQ0=0;MQRankSum=2.385;QD=12.42;ReadPosRankSum=1.695;SB=-2552.49;TI=NM_000412;GI=HRG;FC=Missense_H340R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:151,172:323:99:4012,0,3435:55:99:0.533 chr3 186395180 rs7629680 T C 6152.55 PASS BaseQRankSum=1.046;DP=207;Dels=0.00;FS=4.922;HRun=0;HaplotypeScore=9.4930;MQ=57;MQ0=0;MQRankSum=1.715;QD=29.72;ReadPosRankSum=0.695;SB=-2543.05;TI=NM_000412;GI=HRG;FC=Synonymous_H362H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,206:207:99:6153,424,0:57:99:0.995 chr3 186395572 rs1042464 A T 2149.50 PASS BaseQRankSum=2.358;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8914;MQ=57;MQ0=0;MQRankSum=0.298;QD=13.52;ReadPosRankSum=1.194;SB=-1189.45;TI=NM_000412;GI=HRG;FC=Missense_N493I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,78:159:99:2179,0,2037:57:99:0.491 chr3 186440243 rs1469859 G A 3133.26 PASS DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5287;MQ=53;MQ0=0;QD=27.98;SB=-2193.09;TI=NM_001102416,NM_000893,NM_001166451;GI=KNG1,KNG1,KNG1;FC=Synonymous_T108T,Synonymous_T108T,Synonymous_T108T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:3166,229,0:53:99:1.000 chr3 186443018 rs1656922 T C 2464.57 PASS DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4050;MQ=54;MQ0=0;QD=26.79;SB=-1758.69;TI=NM_001102416,NM_000893,NM_001166451;GI=KNG1,KNG1,KNG1;FC=Missense_M178T,Missense_M178T,Missense_M178T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2498,178,0:54:99:1.000 chr3 186445048 . G A 962.76 PASS BaseQRankSum=-1.400;DP=82;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.686;QD=11.74;ReadPosRankSum=-0.983;SB=-566.55;TI=NM_001102416,NM_000893,NM_001166451;GI=KNG1,KNG1,KNG1;FC=Missense_R196Q,Missense_R196Q,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,41:82:99:993,0,1016:57:99:0.500 chr3 186459927 rs710446 T C 2790.58 PASS BaseQRankSum=-0.315;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8933;MQ=56;MQ0=0;MQRankSum=-1.081;QD=31.01;ReadPosRankSum=0.397;SB=-1537.47;TI=NM_001102416,NM_000893,NM_001166451;GI=KNG1,KNG1,KNG1;FC=Missense_I581T,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,88:90:99:2824,172,0:56:99:0.978 chr3 186570892 rs2241766 T G 2191.07 PASS BaseQRankSum=1.276;DP=77;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.1094;MQ=57;MQ0=0;MQRankSum=-0.729;QD=28.46;ReadPosRankSum=0.547;SB=-797.95;TI=NM_001177800,NM_004797;GI=ADIPOQ,ADIPOQ;FC=Synonymous_G15G,Synonymous_G15G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,75:77:99:2224,145,0:57:99:0.987 chr3 188327461 rs1059380 C T 1319.16 PASS BaseQRankSum=0.038;DP=135;Dels=0.00;FS=4.356;HRun=0;HaplotypeScore=3.5489;MQ=56;MQ0=0;MQRankSum=1.677;QD=9.77;ReadPosRankSum=2.655;SB=-829.38;TI=NM_001167672,NM_005578,NM_001167671;GI=LPP,LPP,LPP;FC=Silent,Synonymous_D314D,Synonymous_D314D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,56:135:99:1349,0,2099:56:99:0.415 chr3 188590446 rs1136644 A G 812.20 PASS BaseQRankSum=-0.417;DP=80;Dels=0.00;FS=5.850;HRun=1;HaplotypeScore=8.0793;MQ=53;MQ0=0;MQRankSum=0.078;QD=10.15;ReadPosRankSum=-0.533;SB=-489.83;TI=NM_001167672,NM_005578,NM_001167671;GI=LPP,LPP,LPP;FC=Synonymous_R388R,Synonymous_R535R,Synonymous_R535R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,35:80:99:842,0,1205:53:99:0.438 chr3 190030680 rs9869263 A G 1558.04 PASS BaseQRankSum=0.916;DP=166;Dels=0.00;FS=2.000;HRun=0;HaplotypeScore=9.3427;MQ=55;MQ0=0;MQRankSum=3.269;QD=9.39;ReadPosRankSum=0.817;SB=-963.27;TI=NM_021101;GI=CLDN1;FC=Synonymous_G123G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,65:166:99:1588,0,2494:55:99:0.392 chr3 191074873 rs188384 C G 598.21 PASS BaseQRankSum=0.165;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.837;QD=8.67;ReadPosRankSum=-1.680;SB=-381.27;TI=NM_178335,NM_174908;GI=CCDC50,CCDC50;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,28:69:99:628,0,1070:53:99:0.406 chr3 191075902 rs11542549 C T 1877.15 PASS BaseQRankSum=1.632;DP=125;Dels=0.00;FS=2.530;HRun=1;HaplotypeScore=4.6683;MQ=56;MQ0=0;MQRankSum=-1.313;QD=15.02;ReadPosRankSum=1.234;SB=-667.44;TI=NM_178335,NM_174908;GI=CCDC50,CCDC50;FC=Synonymous_R76R,Synonymous_R76R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,71:125:99:1907,0,1403:56:99:0.568 chr3 191087740 rs35380043 A T 1234.83 PASS BaseQRankSum=2.263;DP=115;Dels=0.00;FS=3.455;HRun=2;HaplotypeScore=2.6548;MQ=56;MQ0=0;MQRankSum=1.144;QD=10.74;ReadPosRankSum=0.171;SB=-965.77;TI=NM_178335,NM_174908;GI=CCDC50,CCDC50;FC=Missense_L121F,Missense_L121F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,58:115:99:1265,0,1318:56:99:0.504 chr3 191093053 rs2028572 T C 1465.70 PASS BaseQRankSum=0.066;DP=87;Dels=0.00;FS=1.976;HRun=0;HaplotypeScore=3.7876;MQ=58;MQ0=0;MQRankSum=0.468;QD=16.85;ReadPosRankSum=-0.975;SB=-635.97;TI=NM_178335,NM_174908;GI=CCDC50,CCDC50;FC=Synonymous_H217H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,54:87:99:1496,0,958:58:99:0.621 chr3 191093175 rs2028574 T A 2694.88 PASS BaseQRankSum=1.844;DP=221;Dels=0.00;FS=2.303;HRun=1;HaplotypeScore=5.4571;MQ=55;MQ0=0;MQRankSum=2.501;QD=12.19;ReadPosRankSum=-2.023;SB=-1723.81;TI=NM_178335,NM_174908;GI=CCDC50,CCDC50;FC=Missense_I258N,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,111:221:99:2725,0,2662:55:99:0.502 chr3 191093310 rs4677728 A G 1567.57 PASS BaseQRankSum=0.016;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5939;MQ=58;MQ0=0;MQRankSum=0.328;QD=17.42;ReadPosRankSum=-1.378;SB=-195.83;TI=NM_178335,NM_174908;GI=CCDC50,CCDC50;FC=Missense_K303R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,53:90:99:1598,0,1101:58:99:0.589 chr3 191093384 rs4677729 A G 486.06 SB BaseQRankSum=1.843;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9892;MQ=59;MQ0=0;MQRankSum=0.138;QD=17.36;ReadPosRankSum=1.935;SB=-0.01;TI=NM_178335,NM_174908;GI=CCDC50,CCDC50;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,15:28:99:516,0,387:59:99:0.536 chr3 191097966 rs293813 T C 547.78 PASS BaseQRankSum=-0.740;DP=51;Dels=0.00;FS=11.262;HRun=0;HaplotypeScore=10.8314;MQ=53;MQ0=0;MQRankSum=0.195;QD=10.74;ReadPosRankSum=-1.012;SB=-137.36;TI=NM_178335,NM_174908;GI=CCDC50,CCDC50;FC=Missense_M332T,Missense_M156T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,23:51:99:578,0,753:53:99:0.460 chr3 191098731 rs211043 G A 330.32 PASS BaseQRankSum=0.290;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=1.564;QD=13.76;ReadPosRankSum=0.174;SB=-103.25;TI=NM_178335,NM_174908;GI=CCDC50,CCDC50;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,13:24:99:360,0,317:58:99:0.542 chr3 191100561 rs364519 C A 1283.21 PASS BaseQRankSum=-1.215;DP=102;Dels=0.00;FS=1.608;HRun=2;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=2.319;QD=12.58;ReadPosRankSum=1.342;SB=-831.85;TI=NM_178335,NM_174908;GI=CCDC50,CCDC50;FC=Synonymous_S423S,Synonymous_S247S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,52:102:99:1313,0,1203:54:99:0.510 chr3 191107358 . C T 709.18 PASS BaseQRankSum=0.684;DP=92;Dels=0.00;FS=1.733;HRun=0;HaplotypeScore=1.8939;MQ=49;MQ0=0;MQRankSum=-0.124;QD=7.71;ReadPosRankSum=2.484;SB=-541.96;TI=NM_178335,NM_174908;GI=CCDC50,CCDC50;FC=Missense_R466W,Missense_R290W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,36:92:99:739,0,1280:49:99:0.391 chr3 193174782 rs9879227 T C 888.08 PASS BaseQRankSum=1.685;DP=71;Dels=0.00;FS=0.984;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=0.719;QD=12.51;ReadPosRankSum=-0.558;SB=-415.04;TI=NM_032279;GI=ATP13A4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,35:71:99:918,0,959:56:99:0.493 chr3 193183817 rs3796181 A G 442.92 PASS BaseQRankSum=0.570;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.380;QD=12.30;ReadPosRankSum=1.204;SB=-244.12;TI=NM_032279;GI=ATP13A4;FC=Synonymous_S423S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,19:36:99:473,0,457:60:99:0.528 chr3 193209178 rs6788448 T C 689.84 PASS BaseQRankSum=0.571;DP=52;Dels=0.00;FS=4.332;HRun=0;HaplotypeScore=1.9996;MQ=56;MQ0=0;MQRankSum=-2.100;QD=13.27;ReadPosRankSum=-1.271;SB=-356.10;TI=NM_032279;GI=ATP13A4;FC=Missense_I181M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,29:52:99:720,0,733:56:99:0.558 chr3 193210768 rs2130407 A G 1236.13 PASS BaseQRankSum=2.306;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=57;MQ0=0;MQRankSum=0.938;QD=13.15;ReadPosRankSum=1.119;SB=-508.78;TI=NM_032279;GI=ATP13A4;FC=Synonymous_L157L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,47:94:99:1266,0,1358:57:99:0.500 chr3 193334991 rs7624750 G A 3047.13 PASS BaseQRankSum=-0.257;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7874;MQ=54;MQ0=0;MQRankSum=1.823;QD=27.70;ReadPosRankSum=2.137;SB=-2011.20;TI=NM_130831,NM_130833,NM_130837,NM_130834,NM_015560,NM_130836,NM_130832,NM_130835;GI=OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1;FC=Silent,Silent,Missense_S158N,Missense_S158N,Missense_S158N,Missense_S158N,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,108:110:99:3080,187,0:54:99:0.982 chr3 193355074 rs166850 T C 4707.55 PASS DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.21;SB=-3009.83;TI=NM_130831,NM_130833,NM_130837,NM_130834,NM_015560,NM_130836,NM_130832,NM_130835;GI=OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,173:173:99:4708,334,0:54:99:1.000 chr3 193374964 rs9851685 T C 6160.96 PASS DP=222;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=56;MQ0=0;QD=27.75;SB=-3748.27;TI=NM_130831,NM_130833,NM_130837,NM_130834,NM_015560,NM_130836,NM_130832,NM_130835;GI=OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1,OPA1;FC=Synonymous_A667A,Synonymous_A704A,Synonymous_A758A,Synonymous_A721A,Synonymous_A703A,Synonymous_A740A,Synonymous_A685A,Synonymous_A722A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,222:222:99:6161,439,0:56:99:1.000 chr3 195477791 rs2291652 G A 1323.20 PASS BaseQRankSum=1.280;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=46;MQ0=0;MQRankSum=0.264;QD=11.12;ReadPosRankSum=0.854;SB=-801.96;TI=NM_018406,NM_004532,NM_138297;GI=MUC4,MUC4,MUC4;FC=Synonymous_I5280I,Synonymous_I1044I,Synonymous_I993I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,56:119:99:1353,0,1448:46:99:0.471 chr3 195479237 rs67175307 C T 3474.25 PASS BaseQRankSum=-0.244;DP=128;Dels=0.00;FS=3.748;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=-0.866;QD=27.14;ReadPosRankSum=-0.298;SB=-2064.07;TI=NM_018406,NM_004532,NM_138297;GI=MUC4,MUC4,MUC4;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,127:128:99:3474,212,0:51:99:0.992 chr3 195479256 rs2258447 T C 3956.00 PASS DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=27.47;SB=-2466.53;TI=NM_018406,NM_004532,NM_138297;GI=MUC4,MUC4,MUC4;FC=Synonymous_E5190E,Synonymous_E954E,Synonymous_E903E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,144:144:99:3956,283,0:50:99:1.000 chr3 195489009 rs2246901 C A 2200.23 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1203;MQ=53;MQ0=0;QD=26.19;SB=-1296.27;TI=NM_018406,NM_004532,NM_138297;GI=MUC4,MUC4,MUC4;FC=Missense_A4821S,Missense_A585S,Missense_A534S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2233,166,0:53:99:1.000 chr3 195489067 rs2246980 C G 2320.52 PASS DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4085;MQ=55;MQ0=0;QD=27.30;SB=-1494.87;TI=NM_018406,NM_004532,NM_138297;GI=MUC4,MUC4,MUC4;FC=Synonymous_S4801S,Synonymous_S565S,Synonymous_S514S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2354,169,0:55:99:1.000 chr3 195490309 rs74507812 C T 1268.01 PASS BaseQRankSum=1.529;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.4069;MQ=55;MQ0=0;MQRankSum=1.742;QD=12.94;ReadPosRankSum=0.732;SB=-369.03;TI=NM_018406,NM_004532,NM_138297;GI=MUC4,MUC4,MUC4;FC=Missense_V4750I,Missense_V514I,Missense_V463I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,47:98:99:1298,0,1394:55:99:0.480 chr3 195495916 rs2550240 G C 4106.43 PASS DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8139;MQ=53;MQ0=0;QD=26.84;SB=-2454.97;TI=NM_018406,NM_004532,NM_138297;GI=MUC4,MUC4,MUC4;FC=Missense_N4502K,Missense_N266K,Missense_N215K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,153:153:99:4106,298,0:53:99:1.000 chr3 195497174 rs2259102 C G 3911.32 PASS DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5981;MQ=52;MQ0=0;QD=27.16;SB=-2495.86;TI=NM_018406,NM_004532,NM_138297;GI=MUC4,MUC4,MUC4;FC=Missense_M4437I,Missense_M201I,Missense_M150I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:144:99:3911,277,0:52:99:1.000 chr3 195501149 rs2259292 C T 3757.56 PASS DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2638;MQ=55;MQ0=0;QD=26.46;SB=-2335.80;TI=NM_018406,NM_004532,NM_138297;GI=MUC4,MUC4,MUC4;FC=Missense_G4324D,Missense_G88D,Missense_G37D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,142:142:99:3758,271,0:55:99:1.000 chr3 195798258 rs480760 T C 1732.10 PASS DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=28.87;SB=-1158.28;TI=NM_003234,NM_001128148;GI=TFRC,TFRC;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:1765,126,0:52:99:1.000 chr3 195800811 rs3817672 C T 1241.26 PASS BaseQRankSum=3.538;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7602;MQ=55;MQ0=0;MQRankSum=-0.586;QD=11.08;ReadPosRankSum=0.662;SB=-732.21;TI=NM_003234,NM_001128148;GI=TFRC,TFRC;FC=Missense_G142S,Missense_G142S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,52:112:99:1271,0,1510:55:99:0.464 chr3 196054439 rs6785339 T G 2143.27 PASS BaseQRankSum=1.614;DP=159;Dels=0.00;FS=1.316;HRun=1;HaplotypeScore=5.5211;MQ=54;MQ0=0;MQRankSum=0.181;QD=13.48;ReadPosRankSum=-1.569;SB=-875.05;TI=NM_138461;GI=TM4SF19;FC=Missense_Q8P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,81:159:99:2173,0,2041:54:99:0.509 chr3 196199204 rs3796129 G T 2084.83 PASS BaseQRankSum=2.421;DP=175;Dels=0.00;FS=1.209;HRun=1;HaplotypeScore=2.8937;MQ=58;MQ0=0;MQRankSum=0.202;QD=11.91;ReadPosRankSum=0.367;SB=-1179.18;TI=NM_152617;GI=RNF168;FC=Missense_P401Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,79:175:99:2115,0,2595:58:99:0.451 chr3 196742290 rs9855410 T C 2526.46 PASS BaseQRankSum=0.899;DP=212;Dels=0.00;FS=3.894;HRun=1;HaplotypeScore=16.9375;MQ=52;MQ0=0;MQRankSum=1.657;QD=11.92;ReadPosRankSum=1.064;SB=-1704.76;TI=NM_005929;GI=MFI2;FC=Synonymous_P393P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,114:212:99:2556,0,2150:52:99:0.540 chr3 196742395 rs41284049 G A 656.48 PASS BaseQRankSum=2.342;DP=54;Dels=0.00;FS=2.549;HRun=0;HaplotypeScore=6.5164;MQ=56;MQ0=0;MQRankSum=2.776;QD=12.16;ReadPosRankSum=1.076;SB=-184.62;TI=NM_005929;GI=MFI2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,25:54:99:686,0,737:56:99:0.463 chr3 196743130 rs6779362 T C 1927.60 PASS BaseQRankSum=1.824;DP=209;Dels=0.00;FS=1.735;HRun=0;HaplotypeScore=6.3345;MQ=54;MQ0=0;MQRankSum=1.550;QD=9.22;ReadPosRankSum=1.862;SB=-1285.30;TI=NM_005929;GI=MFI2;FC=Synonymous_T337T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,85:209:99:1958,0,2887:54:99:0.407 chr3 196746629 rs1056664 T C 1532.40 PASS BaseQRankSum=1.188;DP=125;Dels=0.00;FS=1.405;HRun=1;HaplotypeScore=5.5934;MQ=52;MQ0=0;MQRankSum=0.175;QD=12.26;ReadPosRankSum=-0.797;SB=-1041.17;TI=NM_005929,NM_033316;GI=MFI2,MFI2;FC=Silent,Synonymous_E252E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,63:125:99:1562,0,1604:52:99:0.504 chr4 647889 . T C 2294.14 PASS BaseQRankSum=0.551;DP=175;Dels=0.00;FS=2.884;HRun=1;HaplotypeScore=8.2283;MQ=56;MQ0=0;MQRankSum=0.933;QD=13.11;ReadPosRankSum=0.452;SB=-786.94;TI=NM_001145291,NM_000283,NM_001145292;GI=PDE6B,PDE6B,PDE6B;FC=Synonymous_S291S,Synonymous_S291S,Synonymous_S12S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,85:175:99:2324,0,2395:56:99:0.486 chr4 648643 rs10902758 G A 1779.46 PASS DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=54;MQ0=0;QD=26.17;SB=-1147.22;TI=NM_001145291,NM_000283,NM_001145292;GI=PDE6B,PDE6B,PDE6B;FC=Missense_V320I,Missense_V320I,Missense_V41I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,67:68:99:1812,129,0:54:99:1.000 chr4 843695 rs8093 A G 4322.54 PASS BaseQRankSum=0.638;DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.2646;MQ=51;MQ0=0;MQRankSum=1.276;QD=28.44;ReadPosRankSum=-0.365;SB=-2744.15;TI=NM_005255;GI=GAK;FC=Synonymous_A1273A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,151:152:99:4323,293,0:51:99:0.993 chr4 845772 rs10031922 T C 3569.95 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;QD=30.78;SB=-1705.90;TI=NM_005255;GI=GAK;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3570,262,0:58:99:1.000 chr4 858941 rs1026738 T C 5258.84 PASS DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6395;MQ=58;MQ0=0;QD=32.26;SB=-2457.09;TI=NM_005255;GI=GAK;FC=Synonymous_A1045A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,163:163:99:5259,397,0:58:99:1.000 chr4 860146 rs2306248 A G 638.22 PASS BaseQRankSum=1.404;DP=87;Dels=0.00;FS=0.908;HRun=0;HaplotypeScore=5.6493;MQ=57;MQ0=0;MQRankSum=1.567;QD=7.34;ReadPosRankSum=1.413;SB=-266.40;TI=NM_005255;GI=GAK;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,28:87:99:668,0,1581:57:99:0.322 chr4 860192 rs1064207 A G 1083.59 PASS BaseQRankSum=2.424;DP=129;Dels=0.00;FS=2.315;HRun=0;HaplotypeScore=4.5860;MQ=54;MQ0=0;MQRankSum=1.372;QD=8.40;ReadPosRankSum=-0.295;SB=-623.86;TI=NM_005255;GI=GAK;FC=Synonymous_S1001S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,48:129:99:1114,0,1963:54:99:0.372 chr4 980896 rs11248061 C A 393.39 PASS BaseQRankSum=-2.314;DP=45;Dels=0.00;FS=1.242;HRun=0;HaplotypeScore=4.3604;MQ=53;MQ0=0;MQRankSum=1.229;QD=8.74;ReadPosRankSum=2.169;SB=-195.20;TI=NM_134425,NM_000203;GI=SLC26A1,IDUA;FC=Silent,Synonymous_A8A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,17:45:99:423,0,683:53:99:0.386 chr4 980932 rs10902762 G A 554.36 PASS BaseQRankSum=-1.012;DP=40;Dels=0.00;FS=2.694;HRun=0;HaplotypeScore=1.8924;MQ=56;MQ0=0;MQRankSum=-1.669;QD=13.86;ReadPosRankSum=-0.766;SB=-355.89;TI=NM_134425,NM_000203;GI=SLC26A1,IDUA;FC=Silent,Synonymous_A20A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,23:40:99:584,0,504:56:99:0.575 chr4 980971 rs10794537 T G 1562.71 PASS DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.94;SB=-1020.04;TI=NM_134425,NM_000203;GI=SLC26A1,IDUA;FC=Silent,Missense_H33Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1596,117,0:53:99:1.000 chr4 982852 rs3796621 G A 2019.44 PASS BaseQRankSum=0.004;DP=152;Dels=0.00;FS=0.627;HRun=0;HaplotypeScore=10.1610;MQ=57;MQ0=0;MQRankSum=0.800;QD=13.29;ReadPosRankSum=-1.165;SB=-907.56;TI=NM_134425,NM_000203,NM_022042,NM_213613;GI=SLC26A1,IDUA,SLC26A1,SLC26A1;FC=Silent,Silent,Synonymous_A625A,Synonymous_A625A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,77:152:99:2049,0,2038:57:99:0.507 chr4 983060 rs3796622 T C 2591.51 PASS BaseQRankSum=0.667;DP=215;Dels=0.00;FS=2.376;HRun=1;HaplotypeScore=16.3831;MQ=52;MQ0=0;MQRankSum=0.398;QD=12.05;ReadPosRankSum=1.485;SB=-1683.65;TI=NM_134425,NM_000203,NM_022042,NM_213613;GI=SLC26A1,IDUA,SLC26A1,SLC26A1;FC=Silent,Silent,Missense_Q556R,Missense_Q556R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,111:215:99:2622,0,2493:52:99:0.519 chr4 983809 rs4690221 C T 1969.69 PASS BaseQRankSum=1.380;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=57;MQ0=0;MQRankSum=2.303;QD=13.22;ReadPosRankSum=-0.959;SB=-952.39;TI=NM_134425,NM_000203,NM_022042,NM_213613;GI=SLC26A1,IDUA,SLC26A1,SLC26A1;FC=Silent,Silent,Synonymous_S306S,Synonymous_S306S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,74:149:99:2000,0,2008:57:99:0.497 chr4 984979 . G A 1775.50 PASS BaseQRankSum=0.518;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7554;MQ=56;MQ0=0;MQRankSum=0.761;QD=14.20;ReadPosRankSum=-1.108;SB=-829.89;TI=NM_134425,NM_000203,NM_022042,NM_213613;GI=SLC26A1,IDUA,SLC26A1,SLC26A1;FC=Synonymous_C171C,Silent,Synonymous_C171C,Synonymous_C171C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,68:125:99:1805,0,1652:56:99:0.544 chr4 994414 rs3755955 G A 1207.04 PASS BaseQRankSum=1.068;DP=90;Dels=0.00;FS=1.781;HRun=0;HaplotypeScore=3.6443;MQ=55;MQ0=1;MQRankSum=0.367;QD=13.41;ReadPosRankSum=-1.876;SB=-617.67;TI=NM_000203;GI=IDUA;FC=Missense_R105Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,50:90:99:1237,0,1047:55:99:0.556 chr4 995305 rs6815946 T C 1935.73 PASS BaseQRankSum=3.270;DP=186;Dels=0.00;FS=4.295;HRun=0;HaplotypeScore=3.5489;MQ=53;MQ0=0;MQRankSum=1.911;QD=10.41;ReadPosRankSum=1.578;SB=-1235.31;TI=NM_000203;GI=IDUA;FC=Synonymous_N181N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,85:186:99:1966,0,2298:53:99:0.457 chr4 995459 rs6848974 C T 667.15 PASS BaseQRankSum=0.498;DP=44;Dels=0.00;FS=4.506;HRun=0;HaplotypeScore=3.5594;MQ=57;MQ0=0;MQRankSum=-1.689;QD=15.16;ReadPosRankSum=-1.373;SB=-286.91;TI=NM_000203;GI=IDUA;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,22:44:99:697,0,666:57:99:0.512 chr4 995919 rs6830825 G C 1186.45 PASS BaseQRankSum=-0.204;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0563;MQ=55;MQ0=0;MQRankSum=-0.095;QD=10.41;ReadPosRankSum=0.766;SB=-560.70;TI=NM_000203;GI=IDUA;FC=Synonymous_A314A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,48:114:99:1216,0,1643:55:99:0.421 chr4 996165 rs6831280 G A 877.95 PASS BaseQRankSum=0.959;DP=75;Dels=0.00;FS=6.073;HRun=0;HaplotypeScore=5.2875;MQ=51;MQ0=0;MQRankSum=0.123;QD=11.71;ReadPosRankSum=-1.269;SB=-570.63;TI=NM_000203;GI=IDUA;FC=Missense_A361T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,43:75:99:908,0,810:51:99:0.573 chr4 996248 rs6836258 G C 371.32 PASS BaseQRankSum=1.161;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2132;MQ=57;MQ0=0;MQRankSum=-0.166;QD=12.38;ReadPosRankSum=-0.456;SB=-193.19;TI=NM_000203;GI=IDUA;FC=Synonymous_T388T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,15:30:99:401,0,408:57:99:0.500 chr4 996560 . C G 191.33 LowDP BaseQRankSum=1.107;DP=17;Dels=0.00;FS=8.383;HRun=1;HaplotypeScore=2.4964;MQ=54;MQ0=0;MQRankSum=-0.144;QD=11.25;ReadPosRankSum=-0.048;SB=-21.96;TI=NM_000203;GI=IDUA;FC=Synonymous_T410T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,8:17:99:221,0,285:54:99:0.471 chr4 996690 rs73066479 G A 218.95 PASS BaseQRankSum=0.532;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8434;MQ=57;MQ0=0;MQRankSum=0.304;QD=9.95;ReadPosRankSum=-0.152;SB=-117.27;TI=NM_000203;GI=IDUA;FC=Missense_V454I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,11:22:99:249,0,267:57:99:0.550 chr4 996888 . C T 507.41 PASS BaseQRankSum=0.081;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7511;MQ=53;MQ0=0;MQRankSum=1.086;QD=9.40;ReadPosRankSum=0.045;SB=-340.33;TI=NM_000203;GI=IDUA;FC=Synonymous_R489R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,23:54:99:537,0,679:53:99:0.434 chr4 1006333 rs4647942 G A 503.46 PASS BaseQRankSum=-0.291;DP=51;Dels=0.00;FS=4.144;HRun=0;HaplotypeScore=5.6622;MQ=53;MQ0=0;MQRankSum=0.834;QD=9.87;ReadPosRankSum=-0.679;SB=-331.23;TI=NM_001004356,NM_001004358,NM_021923;GI=FGFRL1,FGFRL1,FGFRL1;FC=Synonymous_P20P,Synonymous_P20P,Synonymous_P20P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,25:51:99:533,0,559:53:99:0.500 chr4 1017672 . C T 2373.75 PASS BaseQRankSum=-0.741;DP=183;Dels=0.00;FS=5.351;HRun=0;HaplotypeScore=9.2694;MQ=56;MQ0=0;MQRankSum=-0.738;QD=12.97;ReadPosRankSum=-0.617;SB=-1451.65;TI=NM_001004356,NM_001004358,NM_021923;GI=FGFRL1,FGFRL1,FGFRL1;FC=Synonymous_S167S,Synonymous_S167S,Synonymous_S167S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,95:183:99:2404,0,2191:56:99:0.522 chr4 1018705 rs4647930 C A 1028.00 PASS BaseQRankSum=-1.746;DP=85;Dels=0.00;FS=3.127;HRun=1;HaplotypeScore=14.7799;MQ=54;MQ0=0;MQRankSum=-0.937;QD=12.09;ReadPosRankSum=-1.508;SB=-330.68;TI=NM_001004356,NM_001004358,NM_021923;GI=FGFRL1,FGFRL1,FGFRL1;FC=Missense_P362Q,Missense_P362Q,Missense_P362Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,41:85:99:1058,0,1201:54:99:0.482 chr4 1343405 rs2276903 T C 3511.48 PASS DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7218;MQ=58;MQ0=0;QD=29.02;SB=-2243.12;TI=NM_020894;GI=KIAA1530;FC=Synonymous_I64I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:121:99:3511,253,0:58:99:1.000 chr4 1349029 rs2276904 G A 1116.71 PASS BaseQRankSum=1.023;DP=103;Dels=0.00;FS=2.623;HRun=0;HaplotypeScore=12.1298;MQ=54;MQ0=0;MQRankSum=2.122;QD=10.84;ReadPosRankSum=1.407;SB=-710.30;TI=NM_020894;GI=KIAA1530;FC=Missense_R391H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,47:103:99:1147,0,1370:54:99:0.456 chr4 1374695 rs28614045 C A 1546.65 PASS BaseQRankSum=0.038;DP=113;Dels=0.00;FS=1.534;HRun=1;HaplotypeScore=3.5144;MQ=53;MQ0=0;MQRankSum=-0.130;QD=13.69;ReadPosRankSum=1.835;SB=-1049.72;TI=NM_020894;GI=KIAA1530;FC=Synonymous_R594R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,63:113:99:1577,0,1242:53:99:0.558 chr4 1374774 rs28522910 C T 1043.56 PASS BaseQRankSum=0.579;DP=94;Dels=0.00;FS=1.738;HRun=0;HaplotypeScore=5.4050;MQ=53;MQ0=0;MQRankSum=2.848;QD=11.10;ReadPosRankSum=0.987;SB=-474.38;TI=NM_020894;GI=KIAA1530;FC=Missense_P620L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,46:94:99:1074,0,1171:53:99:0.489 chr4 1377615 rs9996817 A G 444.44 PASS BaseQRankSum=-1.473;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8857;MQ=58;MQ0=0;MQRankSum=0.460;QD=10.10;ReadPosRankSum=1.025;SB=-299.16;TI=NM_020894;GI=KIAA1530;FC=Synonymous_S641S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,20:44:99:474,0,605:58:99:0.455 chr4 1801542 rs3135868 A G 469.18 PASS BaseQRankSum=0.450;DP=43;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.256;QD=10.91;ReadPosRankSum=-0.645;SB=-222.67;TI=NM_000142,NM_001163213,NM_022965;GI=FGFR3,FGFR3,FGFR3;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,20:43:99:499,0,606:54:99:0.465 chr4 1803251 rs2305181 T C 1567.19 PASS BaseQRankSum=1.780;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.9685;MQ=57;MQ0=0;MQRankSum=-0.624;QD=13.28;ReadPosRankSum=0.919;SB=-894.39;TI=NM_000142,NM_001163213,NM_022965;GI=FGFR3,FGFR3,FGFR3;FC=Synonymous_I201I,Synonymous_I201I,Synonymous_I201I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,60:118:99:1597,0,1562:57:99:0.513 chr4 1803704 rs2234909 T C 257.55 PASS BaseQRankSum=0.627;DP=53;Dels=0.00;FS=9.792;HRun=0;HaplotypeScore=3.5489;MQ=50;MQ0=0;MQRankSum=1.902;QD=4.86;ReadPosRankSum=-0.138;SB=-18.25;TI=NM_000142,NM_001163213,NM_022965;GI=FGFR3,FGFR3,FGFR3;FC=Synonymous_N294N,Synonymous_N294N,Synonymous_N294N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,12:53:99:288,0,958:50:99:0.226 chr4 1807894 rs7688609 G A 954.68 PASS BaseQRankSum=-1.865;DP=72;Dels=0.00;FS=1.933;HRun=1;HaplotypeScore=9.2530;MQ=58;MQ0=0;MQRankSum=-0.283;QD=13.26;ReadPosRankSum=1.548;SB=-623.03;TI=NM_000142,NM_001163213,NM_022965;GI=FGFR3,FGFR3,FGFR3;FC=Synonymous_T651T,Synonymous_T653T,Synonymous_T539T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,39:72:99:985,0,962:58:99:0.542 chr4 1818594 rs9328763 C T 5248.55 PASS DP=193;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.7608;MQ=56;MQ0=0;QD=27.19;SB=-3587.87;TI=NM_012318;GI=LETM1;FC=Synonymous_K597K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,193:193:99:5249,376,0:56:99:1.000 chr4 1834666 . T C 1732.44 PASS BaseQRankSum=1.562;DP=154;Dels=0.00;FS=5.433;HRun=0;HaplotypeScore=6.8928;MQ=53;MQ0=0;MQRankSum=1.773;QD=11.25;ReadPosRankSum=-0.013;SB=-801.19;TI=NM_012318;GI=LETM1;FC=Synonymous_E295E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,70:154:99:1762,0,2250:53:99:0.455 chr4 1838309 rs11933185 G A 719.66 PASS BaseQRankSum=0.655;DP=63;Dels=0.00;FS=5.509;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=2.227;QD=11.42;ReadPosRankSum=0.393;SB=-242.41;TI=NM_012318;GI=LETM1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,29:63:99:750,0,764:55:99:0.460 chr4 1843324 . C T 447.68 PASS BaseQRankSum=0.942;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.380;QD=8.29;ReadPosRankSum=-1.214;SB=-271.88;TI=NM_012318;GI=LETM1;FC=Missense_R115H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,19:54:99:478,0,975:57:99:0.352 chr4 1857638 . G A 195.53 LowDP BaseQRankSum=-0.702;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=53;MQ0=0;MQRankSum=2.353;QD=10.29;ReadPosRankSum=-0.784;SB=-164.20;TI=NM_012318;GI=LETM1;FC=Missense_P14S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,11:19:99:226,0,214:53:99:0.579 chr4 1976712 rs73069117 C T 2085.29 PASS BaseQRankSum=0.798;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.8118;MQ=54;MQ0=0;MQRankSum=1.658;QD=11.03;ReadPosRankSum=0.092;SB=-1324.07;TI=NM_001042424,NM_133330,NM_133331,NM_133335;GI=WHSC1,WHSC1,WHSC1,WHSC1;FC=Synonymous_A1165A,Synonymous_A1165A,Synonymous_A1165A,Synonymous_A1165A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,89:189:99:2115,0,2348:54:99:0.471 chr4 2010831 rs231189 G C 2451.16 PASS BaseQRankSum=0.397;DP=83;Dels=0.00;FS=4.461;HRun=3;HaplotypeScore=6.7719;MQ=57;MQ0=0;MQRankSum=0.522;QD=29.53;ReadPosRankSum=0.605;SB=-1086.20;TI=NM_005663;GI=WHSC2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,82:83:99:2484,153,0:57:99:0.988 chr4 2010973 rs398377 T G 2605.06 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7602;MQ=59;MQ0=0;QD=30.29;SB=-1503.02 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2638,193,0:59:99:1.000 chr4 2826400 rs3213501 T C 1917.25 PASS BaseQRankSum=0.460;DP=152;Dels=0.00;FS=3.843;HRun=0;HaplotypeScore=13.0272;MQ=51;MQ0=0;MQRankSum=2.959;QD=12.61;ReadPosRankSum=-0.586;SB=-1191.86;TI=NM_001122681,NM_001145855,NM_001145856,NM_003023;GI=SH3BP2,SH3BP2,SH3BP2,SH3BP2;FC=Synonymous_H100H,Synonymous_H128H,Synonymous_H157H,Synonymous_H100H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,82:152:99:1947,0,1555:51:99:0.539 chr4 2831383 rs231399 T G 643.85 PASS BaseQRankSum=-0.183;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=17.9417;MQ=51;MQ0=0;MQRankSum=1.157;QD=9.91;ReadPosRankSum=1.198;SB=-361.52;TI=NM_001122681,NM_001145855,NM_001145856,NM_003023;GI=SH3BP2,SH3BP2,SH3BP2,SH3BP2;FC=Synonymous_A250A,Synonymous_A278A,Synonymous_A307A,Synonymous_A250A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,28:65:99:674,0,962:51:99:0.438 chr4 2990499 rs2960306 G T 1392.84 PASS BaseQRankSum=0.596;DP=173;Dels=0.00;FS=3.665;HRun=1;HaplotypeScore=2.8888;MQ=51;MQ0=0;MQRankSum=0.052;QD=8.05;ReadPosRankSum=-0.750;SB=-832.90;TI=NM_001004056,NM_001004057,NM_182982;GI=GRK4,GRK4,GRK4;FC=Missense_R33L,Missense_R65L,Missense_R65L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,64:173:99:1423,0,2563:51:99:0.370 chr4 2993980 rs2515941 T C 1038.12 PASS BaseQRankSum=-0.054;DP=124;Dels=0.00;FS=1.491;HRun=0;HaplotypeScore=4.4704;MQ=52;MQ0=0;MQRankSum=1.575;QD=8.37;ReadPosRankSum=-0.494;SB=-528.20;TI=NM_001004056,NM_001004057,NM_182982;GI=GRK4,GRK4,GRK4;FC=Synonymous_D68D,Synonymous_D100D,Synonymous_D100D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,46:124:99:1068,0,1870:52:99:0.371 chr4 3006043 rs1024323 C T 1415.62 PASS BaseQRankSum=2.788;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5216;MQ=52;MQ0=0;MQRankSum=0.567;QD=10.72;ReadPosRankSum=-1.477;SB=-973.83;TI=NM_001004056,NM_001004057,NM_182982;GI=GRK4,GRK4,GRK4;FC=Missense_A110V,Missense_A142V,Missense_A142V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,66:132:99:1446,0,1548:52:99:0.500 chr4 3015553 rs1140085 G A 1002.38 PASS BaseQRankSum=-0.933;DP=59;Dels=0.00;FS=1.176;HRun=0;HaplotypeScore=6.2586;MQ=55;MQ0=0;MQRankSum=0.306;QD=16.99;ReadPosRankSum=-0.666;SB=-307.60;TI=NM_001004056,NM_001004057,NM_182982;GI=GRK4,GRK4,GRK4;FC=Missense_V215I,Missense_V247I,Missense_V247I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,37:59:99:1032,0,533:55:99:0.627 chr4 3039150 rs1801058 T C 2030.26 PASS BaseQRankSum=3.865;DP=147;Dels=0.00;FS=6.224;HRun=0;HaplotypeScore=10.9899;MQ=51;MQ0=0;MQRankSum=0.356;QD=13.81;ReadPosRankSum=1.275;SB=-1331.60;TI=NM_001004056,NM_001004057,NM_182982;GI=GRK4,GRK4,GRK4;FC=Missense_V454A,Missense_V486A,Missense_V486A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,81:147:99:2060,0,1593:51:99:0.551 chr4 3076657 rs9993357 G A 136.72 PASS BaseQRankSum=-0.377;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=24.7865;MQ=48;MQ0=0;MQRankSum=-1.341;QD=4.27;ReadPosRankSum=-3.143;SB=-87.29;TI=NM_002111;GI=HTT;FC=Synonymous_Q35Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,9:32:99:167,0,644:48:99:0.281 chr4 3076662 rs61792465 A C 61.44 SB BaseQRankSum=-0.364;DP=29;Dels=0.03;FS=2.287;HRun=1;HaplotypeScore=29.5699;MQ=48;MQ0=0;MQRankSum=-2.548;QD=2.12;ReadPosRankSum=-0.196;SB=-8.10;TI=NM_002111;GI=HTT;FC=Missense_Q37P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,6:28:91.43:91,0,604:48:61:0.214 chr4 3076663 rs473915 A G 34.12 LowVariantFreq;SB BaseQRankSum=1.904;DP=29;Dels=0.03;FS=6.038;HRun=0;HaplotypeScore=29.5699;MQ=48;MQ0=0;MQRankSum=-1.904;QD=1.18;ReadPosRankSum=-2.466;SB=-0.01;TI=NM_002111;GI=HTT;FC=Synonymous_Q37Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,5:28:64.11:64,0,544:48:34:0.185 chr4 3076665 rs61792466 A C 32.66 PASS BaseQRankSum=0.204;DP=28;Dels=0.04;FS=2.205;HRun=1;HaplotypeScore=24.6239;MQ=48;MQ0=0;MQRankSum=-3.179;QD=1.17;ReadPosRankSum=-0.321;SB=-19.05;TI=NM_002111;GI=HTT;FC=Missense_Q38P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,6:27:62.65:63,0,501:48:33:0.222 chr4 3076672 rs76533208 A G 71.53 PASS BaseQRankSum=0.751;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.8971;MQ=48;MQ0=0;MQRankSum=-3.411;QD=2.75;ReadPosRankSum=-0.462;SB=-53.86;TI=NM_002111;GI=HTT;FC=Synonymous_P40P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,7:26:99:102,0,506:48:72:0.269 chr4 3162056 rs363099 C T 1636.92 PASS BaseQRankSum=0.645;DP=141;Dels=0.00;FS=6.199;HRun=1;HaplotypeScore=1.7882;MQ=50;MQ0=0;MQRankSum=1.668;QD=11.61;ReadPosRankSum=1.726;SB=-1016.49;TI=NM_002111;GI=HTT;FC=Synonymous_L1267L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,69:141:99:1667,0,1694:50:99:0.489 chr4 3180021 rs363096 T C 1112.60 PASS BaseQRankSum=-0.276;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=1.837;QD=15.45;ReadPosRankSum=0.172;SB=-550.69;TI=NM_002111;GI=HTT;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,43:72:99:1143,0,715:58:99:0.597 chr4 3213832 rs362336 G A 1737.04 PASS BaseQRankSum=1.440;DP=169;Dels=0.00;FS=0.573;HRun=1;HaplotypeScore=4.5485;MQ=55;MQ0=0;MQRankSum=-0.481;QD=10.28;ReadPosRankSum=0.172;SB=-1281.06;TI=NM_002111;GI=HTT;FC=Synonymous_E2197E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,78:169:99:1767,0,2036:55:99:0.462 chr4 3215835 rs362331 T C 2381.92 PASS BaseQRankSum=-0.497;DP=194;Dels=0.00;FS=3.558;HRun=1;HaplotypeScore=6.4359;MQ=52;MQ0=0;MQRankSum=1.389;QD=12.28;ReadPosRankSum=0.579;SB=-838.47;TI=NM_002111;GI=HTT;FC=Missense_Y2309H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,91:194:99:2412,0,2617:52:99:0.469 chr4 3219613 rs2857790 A C 2134.06 PASS DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4081;MQ=55;MQ0=0;QD=28.08;SB=-1174.39;TI=NM_002111;GI=HTT;FC=Synonymous_L2392L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2167,157,0:55:99:1.000 chr4 3227419 rs362273 A G 1217.19 PASS BaseQRankSum=-0.153;DP=107;Dels=0.00;FS=1.559;HRun=0;HaplotypeScore=2.6823;MQ=52;MQ0=0;MQRankSum=-0.733;QD=11.38;ReadPosRankSum=-0.090;SB=-916.62;TI=NM_002111;GI=HTT;FC=Synonymous_L2599L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,56:107:99:1247,0,1229:52:99:0.523 chr4 3234980 rs362272 G A 2322.76 PASS BaseQRankSum=2.711;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2991;MQ=56;MQ0=0;MQRankSum=2.411;QD=11.67;ReadPosRankSum=1.134;SB=-1614.74;TI=NM_002111;GI=HTT;FC=Missense_V2786I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,100:199:99:2353,0,2664:56:99:0.508 chr4 3475252 rs4325970 T C 5256.75 PASS DP=177;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1186;MQ=55;MQ0=0;QD=29.70;SB=-3238.36;TI=NM_001164673,NM_173660;GI=DOK7,DOK7;FC=Synonymous_L74L,Synonymous_L74L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,177:177:99:5257,382,0:55:99:1.000 chr4 3494680 . C T 1246.43 PASS BaseQRankSum=0.237;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1225;MQ=58;MQ0=0;MQRankSum=0.573;QD=11.65;ReadPosRankSum=2.346;SB=-537.75;TI=NM_001164673,NM_173660;GI=DOK7,DOK7;FC=Silent,Missense_R323C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,44:107:99:1276,0,1849:58:99:0.411 chr4 3514695 rs6789 A G 1276.51 PASS BaseQRankSum=2.351;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3878;MQ=52;MQ0=0;MQRankSum=1.430;QD=11.60;ReadPosRankSum=0.287;SB=-862.80;TI=NM_002337;GI=LRPAP1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,53:110:99:1307,0,1290:52:99:0.482 chr4 4861974 rs34165410 C T 357.71 PASS BaseQRankSum=0.822;DP=34;Dels=0.00;FS=1.410;HRun=0;HaplotypeScore=1.9865;MQ=51;MQ0=0;MQRankSum=0.927;QD=10.52;ReadPosRankSum=-0.577;SB=-139.47;TI=NM_002448;GI=MSX1;FC=Synonymous_G116G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,14:34:99:388,0,499:51:99:0.412 chr4 4864876 rs8670 C T 50.05 LowGQX;LowGQ;SB;LowDP DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=25.02;SB=-0.01;TI=NM_002448;GI=MSX1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,2:2:6.02:81,6,0:60:6:1.000 chr4 5570221 rs12511039 G A 834.11 PASS BaseQRankSum=1.802;DP=61;Dels=0.00;FS=1.053;HRun=0;HaplotypeScore=4.5383;MQ=55;MQ0=0;MQRankSum=1.064;QD=13.67;ReadPosRankSum=1.961;SB=-365.25;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Synonymous_H1169H,Synonymous_H1089H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,33:61:99:864,0,710:55:99:0.541 chr4 5624670 rs730469 T C 1006.68 PASS BaseQRankSum=0.200;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3049;MQ=56;MQ0=0;MQRankSum=-0.303;QD=15.25;ReadPosRankSum=0.483;SB=-100.56;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Missense_T699A,Missense_T619A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,36:66:99:1037,0,924:56:99:0.545 chr4 5630470 rs35103377 TA T 645.26 R8 BaseQRankSum=0.376;DP=43;FS=0.000;HRun=11;HaplotypeScore=48.3477;MQ=58;MQ0=0;MQRankSum=-0.765;QD=15.01;ReadPosRankSum=0.920;SB=-282.15;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,27:43:99:684,0,247:58:99:0.675 chr4 5642274 rs13131655 T C 413.96 PASS BaseQRankSum=-0.020;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=2.163;QD=13.35;ReadPosRankSum=0.099;SB=-30.29;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Synonymous_E479E,Synonymous_E399E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,14:31:99:444,0,561:59:99:0.452 chr4 5713125 . G A 4.58 LowGQX;LowDP BaseQRankSum=-1.231;DP=5;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=-1.231;QD=0.92;ReadPosRankSum=-0.358;SB=-15.64;TI=NM_153717;GI=EVC;FC=Synonymous_A6A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,2:5:32.72:33,0,107:52:5:0.400 chr4 5713164 . C A 14.65 LowGQX;LowGQ;LowDP DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=37;MQ0=0;QD=7.32;SB=-26.68;TI=NM_153717;GI=EVC;FC=Missense_D19E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,2:2:3.01:44,3,0:37:3:1.000 chr4 5743509 rs6446393 C T 2484.86 PASS DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=31.06;SB=-1037.93;TI=NM_153717;GI=EVC;FC=Synonymous_L257L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2518,184,0:55:99:1.000 chr4 5743512 rs6414624 T C 2394.08 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8920;MQ=55;MQ0=0;QD=31.09;SB=-964.29;TI=NM_153717;GI=EVC;FC=Missense_Y258H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2427,178,0:55:99:1.000 chr4 5747072 rs2286343 C T 2531.77 PASS DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=52;MQ0=0;QD=28.77;SB=-1350.70;TI=NM_153717;GI=EVC;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2565,187,0:52:99:1.000 chr4 5747079 rs55955937 G T 1147.40 PASS BaseQRankSum=1.896;DP=80;Dels=0.00;FS=4.583;HRun=0;HaplotypeScore=0.9998;MQ=52;MQ0=0;MQRankSum=0.078;QD=14.34;ReadPosRankSum=-0.401;SB=-551.28;TI=NM_153717;GI=EVC;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,47:80:99:1177,0,782:52:99:0.588 chr4 5749961 rs4688962 G C 1892.90 PASS BaseQRankSum=0.496;DP=158;Dels=0.00;FS=5.045;HRun=0;HaplotypeScore=4.4704;MQ=54;MQ0=0;MQRankSum=-1.751;QD=11.98;ReadPosRankSum=-0.941;SB=-789.99;TI=NM_153717;GI=EVC;FC=Synonymous_L342L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,80:158:99:1923,0,2185:54:99:0.506 chr4 5755542 rs2302075 C A 3111.32 PASS BaseQRankSum=0.577;DP=266;Dels=0.00;FS=4.226;HRun=1;HaplotypeScore=11.7072;MQ=55;MQ0=0;MQRankSum=0.330;QD=11.70;ReadPosRankSum=-0.970;SB=-1850.79;TI=NM_153717;GI=EVC;FC=Missense_T449K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,123:266:99:3141,0,3488:55:99:0.466 chr4 5795412 rs11737221 C T 1825.21 PASS BaseQRankSum=1.531;DP=167;Dels=0.00;FS=1.218;HRun=0;HaplotypeScore=6.3876;MQ=52;MQ0=0;MQRankSum=1.136;QD=10.93;ReadPosRankSum=-0.196;SB=-1503.03;TI=NM_153717;GI=EVC;FC=Synonymous_G618G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,90:167:99:1855,0,1692:52:99:0.542 chr4 5803669 rs1031919 T C 1207.03 PASS DP=43;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=28.07;SB=-443.86;TI=NM_153717;GI=EVC;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:43:90.30:1240,90,0:57:90:1.000 chr4 5803829 rs3214940 AC A 862.63 PASS BaseQRankSum=1.712;DP=87;FS=0.000;HRun=7;HaplotypeScore=131.5707;MQ=52;MQ0=0;MQRankSum=-1.272;QD=9.92;ReadPosRankSum=-1.932;SB=-432.99;TI=NM_153717;GI=EVC;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,31:87:99:902,0,886:52:99:0.360 chr4 6292915 rs10010131 A G 307.17 PASS BaseQRankSum=-0.066;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=55;MQ0=0;MQRankSum=0.854;QD=13.96;ReadPosRankSum=1.313;SB=-34.00;TI=NM_001145853,NM_006005;GI=WFS1,WFS1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,11:22:99:337,0,343:55:99:0.500 chr4 6293696 rs1801213 C G 2670.75 PASS BaseQRankSum=2.991;DP=213;Dels=0.00;FS=4.822;HRun=1;HaplotypeScore=5.5485;MQ=55;MQ0=0;MQRankSum=1.803;QD=12.54;ReadPosRankSum=1.672;SB=-1851.71;TI=NM_001145853,NM_006005;GI=WFS1,WFS1;FC=Synonymous_R228R,Synonymous_R228R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,113:213:99:2701,0,2245:55:99:0.531 chr4 6302519 rs1801212 G A 2926.06 PASS BaseQRankSum=0.932;DP=252;Dels=0.00;FS=0.480;HRun=0;HaplotypeScore=8.2204;MQ=55;MQ0=0;MQRankSum=5.680;QD=11.61;ReadPosRankSum=1.217;SB=-1475.42;TI=NM_001145853,NM_006005;GI=WFS1,WFS1;FC=Missense_V333I,Missense_V333I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,123:252:99:2956,0,3203:55:99:0.488 chr4 6302707 rs1801206 C T 2421.64 PASS BaseQRankSum=0.651;DP=183;Dels=0.00;FS=1.877;HRun=1;HaplotypeScore=12.8790;MQ=57;MQ0=0;MQRankSum=-1.157;QD=13.23;ReadPosRankSum=0.653;SB=-1293.51;TI=NM_001145853,NM_006005;GI=WFS1,WFS1;FC=Synonymous_V395V,Synonymous_V395V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,98:183:99:2452,0,2250:57:99:0.536 chr4 6303022 rs1801214 C T 3896.77 PASS BaseQRankSum=1.418;DP=294;Dels=0.00;FS=2.556;HRun=0;HaplotypeScore=14.5476;MQ=56;MQ0=0;MQRankSum=0.617;QD=13.25;ReadPosRankSum=-2.484;SB=-2439.54;TI=NM_001145853,NM_006005;GI=WFS1,WFS1;FC=Synonymous_N500N,Synonymous_N500N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:140,154:294:99:3897,0,3332:56:99:0.524 chr4 6303354 rs734312 G A 2677.04 PASS BaseQRankSum=0.831;DP=146;Dels=0.00;FS=7.853;HRun=0;HaplotypeScore=7.3361;MQ=58;MQ0=0;MQRankSum=0.987;QD=18.34;ReadPosRankSum=-3.053;SB=-1272.18;TI=NM_001145853,NM_006005;GI=WFS1,WFS1;FC=Missense_R611H,Missense_R611H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,93:146:99:2707,0,1399:58:99:0.641 chr4 6303955 rs1046314 G A 947.06 PASS BaseQRankSum=-0.310;DP=63;Dels=0.00;FS=1.003;HRun=2;HaplotypeScore=3.5144;MQ=59;MQ0=0;MQRankSum=0.544;QD=15.03;ReadPosRankSum=2.966;SB=-287.42;TI=NM_001145853,NM_006005;GI=WFS1,WFS1;FC=Synonymous_K811K,Synonymous_K811K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,30:63:99:977,0,1007:59:99:0.476 chr4 6304087 rs1046316 A G 1404.10 PASS BaseQRankSum=1.603;DP=111;Dels=0.00;FS=1.551;HRun=0;HaplotypeScore=3.5981;MQ=54;MQ0=0;MQRankSum=0.723;QD=12.65;ReadPosRankSum=0.812;SB=-679.96;TI=NM_001145853,NM_006005;GI=WFS1,WFS1;FC=Synonymous_S855S,Synonymous_S855S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,53:111:99:1434,0,1498:54:99:0.477 chr4 8594572 rs76756393 G C 310.27 PASS BaseQRankSum=0.055;DP=33;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=4.7279;MQ=54;MQ0=0;MQRankSum=0.419;QD=9.40;ReadPosRankSum=0.091;SB=-172.28;TI=NM_001014447,NM_003652,NM_001014448;GI=CPZ,CPZ,CPZ;FC=Synonymous_P4P,Synonymous_P4P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,14:33:99:340,0,504:54:99:0.424 chr4 8594574 rs2302583 T C 465.92 PASS BaseQRankSum=2.094;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7810;MQ=54;MQ0=0;MQRankSum=0.674;QD=14.12;ReadPosRankSum=-0.200;SB=-271.82;TI=NM_001014447,NM_003652,NM_001014448;GI=CPZ,CPZ,CPZ;FC=Missense_L5P,Missense_L5P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,19:33:99:496,0,311:54:99:0.576 chr4 8594577 rs34964084 C T 468.03 PASS BaseQRankSum=-0.192;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7810;MQ=54;MQ0=0;MQRankSum=1.172;QD=13.77;ReadPosRankSum=-0.542;SB=-262.73;TI=NM_001014447,NM_003652,NM_001014448;GI=CPZ,CPZ,CPZ;FC=Missense_P6L,Missense_P6L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,20:34:99:498,0,346:54:99:0.588 chr4 8594616 rs79736750 G C 753.08 PASS BaseQRankSum=1.040;DP=62;Dels=0.00;FS=3.494;HRun=3;HaplotypeScore=4.3882;MQ=50;MQ0=0;MQRankSum=-2.624;QD=12.15;ReadPosRankSum=-1.209;SB=-449.70;TI=NM_001014447,NM_003652,NM_001014448;GI=CPZ,CPZ,CPZ;FC=Missense_R19P,Missense_R19P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,34:62:99:783,0,675:50:99:0.548 chr4 8602884 rs4301095 T C 6023.47 PASS BaseQRankSum=1.590;DP=219;Dels=0.00;FS=3.734;HRun=0;HaplotypeScore=5.3705;MQ=53;MQ0=0;MQRankSum=0.277;QD=27.50;ReadPosRankSum=-1.432;SB=-3492.46;TI=NM_001014447,NM_003652,NM_001014448;GI=CPZ,CPZ,CPZ;FC=Synonymous_S52S,Synonymous_S41S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,218:219:99:6023,409,0:53:99:0.995 chr4 8602935 rs4431213 A G 6650.75 PASS DP=232;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.2243;MQ=54;MQ0=0;QD=28.67;SB=-4203.91;TI=NM_001014447,NM_003652,NM_001014448;GI=CPZ,CPZ,CPZ;FC=Synonymous_S69S,Synonymous_S58S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,232:232:99:6651,479,0:54:99:1.000 chr4 8603117 rs35993494 A T 1477.20 PASS BaseQRankSum=-0.237;DP=133;Dels=0.00;FS=8.118;HRun=0;HaplotypeScore=8.6538;MQ=56;MQ0=0;MQRankSum=-0.043;QD=11.11;ReadPosRankSum=-0.606;SB=-644.90;TI=NM_001014447,NM_003652,NM_001014448;GI=CPZ,CPZ,CPZ;FC=Missense_Q130L,Missense_Q119L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,63:133:99:1507,0,1785:56:99:0.474 chr4 8605818 rs6852001 C T 3805.55 PASS BaseQRankSum=-0.035;DP=299;Dels=0.00;FS=0.423;HRun=0;HaplotypeScore=9.0760;MQ=55;MQ0=0;MQRankSum=2.012;QD=12.73;ReadPosRankSum=-0.398;SB=-2247.54;TI=NM_001014447,NM_003652,NM_001014448;GI=CPZ,CPZ,CPZ;FC=Synonymous_C204C,Synonymous_C193C,Synonymous_C67C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:152,147:299:99:3806,0,3924:55:99:0.492 chr4 8616096 rs1131140 T C 660.88 PASS BaseQRankSum=1.347;DP=64;Dels=0.00;FS=3.495;HRun=0;HaplotypeScore=2.7776;MQ=52;MQ0=0;MQRankSum=2.253;QD=10.33;ReadPosRankSum=-1.401;SB=-438.03;TI=NM_001014447,NM_003652,NM_001014448;GI=CPZ,CPZ,CPZ;FC=Synonymous_D458D,Synonymous_D447D,Synonymous_D321D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,28:64:99:691,0,841:52:99:0.438 chr4 8616179 rs7378066 T C 2960.15 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=50;MQ0=0;QD=25.74;SB=-2114.46;TI=NM_001014447,NM_003652,NM_001014448;GI=CPZ,CPZ,CPZ;FC=Missense_I486T,Missense_I475T,Missense_I349T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:115:99:2993,214,0:50:99:1.000 chr4 8621194 rs28514374 A G 5066.66 PASS DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.6283;MQ=58;MQ0=0;QD=32.48;SB=-1834.17;TI=NM_001014447,NM_003652,NM_001014448;GI=CPZ,CPZ,CPZ;FC=Synonymous_P603P,Synonymous_P592P,Synonymous_P466P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,156:156:99:5067,376,0:58:99:1.000 chr4 8869587 rs13303225 T C 244.32 LowGQ;LowDP DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.54;SB=-38.58;TI=NM_018942;GI=HMX1;FC=Synonymous_A293A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,8:8:21.07:277,21,0:57:21:1.000 chr4 8872977 rs61745347 C T 515.33 PASS BaseQRankSum=0.084;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=-1.970;QD=16.10;ReadPosRankSum=1.006;SB=-321.58;TI=NM_018942;GI=HMX1;FC=Missense_G122S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,23:32:99:545,0,193:53:99:0.719 chr4 9784631 rs6283 C T 5214.49 PASS BaseQRankSum=0.934;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8974;MQ=55;MQ0=2;MQRankSum=2.267;QD=29.46;ReadPosRankSum=2.393;SB=-2657.00;TI=NM_000798;GI=DRD5;FC=Synonymous_P326P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,173:177:99:5214,347,0:55:99:0.977 chr4 9909923 rs2280205 G A 2102.80 PASS BaseQRankSum=-0.496;DP=184;Dels=0.00;FS=6.243;HRun=0;HaplotypeScore=8.9135;MQ=56;MQ0=0;MQRankSum=0.355;QD=11.43;ReadPosRankSum=-0.995;SB=-1503.89;TI=NM_020041,NM_001001290;GI=SLC2A9,SLC2A9;FC=Missense_P350L,Missense_P321L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,97:184:99:2133,0,2070:56:99:0.527 chr4 9922167 rs16890979 C T 1462.21 PASS BaseQRankSum=1.914;DP=110;Dels=0.00;FS=9.773;HRun=0;HaplotypeScore=4.5210;MQ=58;MQ0=0;MQRankSum=1.100;QD=13.29;ReadPosRankSum=-1.202;SB=-921.45;TI=NM_020041,NM_001001290;GI=SLC2A9,SLC2A9;FC=Missense_V282I,Missense_V253I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,62:110:99:1492,0,1252:58:99:0.564 chr4 9982330 rs13125646 A G 5386.60 PASS DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7779;MQ=53;MQ0=0;QD=27.48;SB=-2776.50;TI=NM_020041,NM_001001290;GI=SLC2A9,SLC2A9;FC=Synonymous_L189L,Synonymous_L160L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,196:196:99:5387,385,0:53:99:1.000 chr4 9998440 rs10939650 C T 886.33 PASS DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.54;SB=-504.66;TI=NM_020041,NM_001001290;GI=SLC2A9,SLC2A9;FC=Synonymous_T125T,Synonymous_T96T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,30:30:66.22:919,66,0:55:66:1.000 chr4 9998493 rs13113918 A G 1601.09 PASS DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=26.68;SB=-1099.09;TI=NM_020041,NM_001001290;GI=SLC2A9,SLC2A9;FC=Synonymous_L108L,Synonymous_L79L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:1634,117,0:54:99:1.000 chr4 10022981 rs2276961 C T 1905.70 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=26.11;SB=-1345.52;TI=NM_020041,NM_001001290;GI=SLC2A9,SLC2A9;FC=Missense_G25R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:1939,138,0:51:99:1.000 chr4 10502937 rs2903960 T G 7118.54 PASS DP=246;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.7616;MQ=56;MQ0=0;QD=28.94;SB=-3758.34;TI=NM_052964;GI=CLNK;FC=Synonymous_I361I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,246:246:99:7119,518,0:56:99:1.000 chr4 15568992 rs13121363 T C 1246.93 PASS BaseQRankSum=0.574;DP=105;Dels=0.00;FS=2.545;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.791;QD=11.88;ReadPosRankSum=-0.394;SB=-805.28;TI=NM_001080522;GI=CC2D2A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,52:105:99:1277,0,1336:55:99:0.495 chr4 15569018 rs73125627 G A 1514.53 PASS BaseQRankSum=2.069;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8936;MQ=54;MQ0=0;MQRankSum=-0.688;QD=13.06;ReadPosRankSum=1.721;SB=-904.50;TI=NM_001080522;GI=CC2D2A;FC=Synonymous_S1067S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,60:116:99:1545,0,1340:54:99:0.517 chr4 15717321 rs3213710 G A 907.71 PASS BaseQRankSum=-1.193;DP=114;Dels=0.00;FS=6.385;HRun=0;HaplotypeScore=6.4151;MQ=55;MQ0=0;MQRankSum=1.013;QD=7.96;ReadPosRankSum=0.971;SB=-420.39;TI=NM_004334;GI=BST1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,38:114:99:938,0,1958:55:99:0.333 chr4 15937731 rs2072313 T C 3064.70 PASS DP=103;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7225;MQ=55;MQ0=0;QD=29.75;SB=-1809.75;TI=NM_005130;GI=FGFBP1;FC=Synonymous_K175K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:103:99:3098,226,0:55:99:1.000 chr4 15982166 rs6449209 A G 1287.60 PASS BaseQRankSum=-1.161;DP=48;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.1944;MQ=46;MQ0=0;MQRankSum=-1.728;QD=26.82;ReadPosRankSum=1.212;SB=-544.85;TI=NM_001145849,NM_001145850,NM_001145851,NM_001145852,NM_006017,NM_001145847,NM_001145848;GI=PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,46:48:69.56:1321,70,0:46:70:0.958 chr4 16037352 rs2078622 C T 689.12 PASS BaseQRankSum=2.451;DP=69;Dels=0.00;FS=3.363;HRun=3;HaplotypeScore=5.3645;MQ=55;MQ0=0;MQRankSum=0.514;QD=9.99;ReadPosRankSum=1.967;SB=-385.86;TI=NM_001145849,NM_001145850,NM_001145851,NM_001145852,NM_006017,NM_001145847,NM_001145848;GI=PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,30:69:99:719,0,870:55:99:0.435 chr4 16040617 rs76963591 C T 530.14 PASS BaseQRankSum=1.533;DP=52;Dels=0.00;FS=4.121;HRun=1;HaplotypeScore=3.7876;MQ=56;MQ0=0;MQRankSum=1.401;QD=10.20;ReadPosRankSum=0.461;SB=-180.84;TI=NM_001145849,NM_001145850,NM_001145851,NM_001145852,NM_006017,NM_001145847,NM_001145848;GI=PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1;FC=Synonymous_L76L,Synonymous_L76L,Synonymous_L76L,Synonymous_L76L,Synonymous_L76L,Synonymous_L76L,Synonymous_L76L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,20:52:99:560,0,808:56:99:0.385 chr4 17503382 rs2597775 C T 1944.38 PASS DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7670;MQ=53;MQ0=0;QD=27.01;SB=-1066.95;TI=NM_000320;GI=QDPR;FC=Synonymous_L132L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:1977,141,0:53:99:1.000 chr4 17513582 rs2518608 G A 666.93 PASS BaseQRankSum=-0.489;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1787;MQ=51;MQ0=0;MQRankSum=-0.425;QD=11.70;ReadPosRankSum=-2.411;SB=-454.58;TI=NM_000320;GI=QDPR;FC=Synonymous_A32A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,31:57:99:697,0,535:51:99:0.544 chr4 20751278 rs2322688 A G 891.27 PASS BaseQRankSum=0.391;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=2.046;QD=12.38;ReadPosRankSum=1.422;SB=-605.94;TI=NM_147181,NM_025221,NM_147183,NM_001035004,NM_001035003,NM_147182;GI=KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,40:72:99:921,0,654:52:99:0.556 chr4 20852166 rs3765121 A G 2157.45 PASS DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3536;MQ=57;MQ0=0;QD=28.77;SB=-1083.69;TI=NM_147181,NM_025221,NM_147183,NM_001035004,NM_001035003,NM_147182;GI=KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4;FC=Synonymous_N42N,Synonymous_N76N,Synonymous_N75N,Synonymous_N34N,Synonymous_N71N,Synonymous_N34N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2190,160,0:57:99:1.000 chr4 20852244 rs3765122 A G 2862.82 PASS DP=101;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6548;MQ=56;MQ0=0;QD=28.34;SB=-1350.32;TI=NM_147181,NM_025221,NM_147183,NM_001035004,NM_001035003,NM_147182;GI=KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4;FC=Synonymous_P16P,Synonymous_P50P,Synonymous_P49P,Synonymous_P8P,Synonymous_P45P,Synonymous_P8P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2896,211,0:56:99:1.000 chr4 22820504 rs358231 A T 1920.94 PASS BaseQRankSum=1.944;DP=173;Dels=0.00;FS=1.191;HRun=0;HaplotypeScore=4.4936;MQ=55;MQ0=0;MQRankSum=1.158;QD=11.10;ReadPosRankSum=-0.794;SB=-1202.35;TI=NM_020973,NM_001128432;GI=GBA3,GBA3;FC=Missense_X456Y,Missense_X149Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,76:173:99:1951,0,2383:55:99:0.442 chr4 23815522 rs3755863 C T 2533.12 PASS BaseQRankSum=0.989;DP=163;Dels=0.00;FS=14.018;HRun=0;HaplotypeScore=6.7867;MQ=57;MQ0=0;MQRankSum=1.218;QD=15.54;ReadPosRankSum=-0.573;SB=-1252.82;TI=NM_013261;GI=PPARGC1A;FC=Synonymous_T528T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,86:163:99:2563,0,2172:57:99:0.528 chr4 23815662 rs8192678 C T 3181.91 PASS BaseQRankSum=1.075;DP=226;Dels=0.00;FS=8.914;HRun=0;HaplotypeScore=14.2911;MQ=56;MQ0=0;MQRankSum=3.785;QD=14.08;ReadPosRankSum=-2.026;SB=-1857.52;TI=NM_013261;GI=PPARGC1A;FC=Missense_G482S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,117:226:99:3212,0,2884:56:99:0.520 chr4 23815924 rs2970847 T C 7013.60 PASS DP=223;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7878;MQ=55;MQ0=0;QD=31.45;SB=-4271.73;TI=NM_013261;GI=PPARGC1A;FC=Synonymous_T394T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,223:223:99:7014,518,0:55:99:1.000 chr4 24801315 rs2536512 G A 3793.74 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7168;MQ=56;MQ0=0;QD=32.99;SB=-1647.68;TI=NM_003102;GI=SOD3;FC=Missense_A58T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:115:99:3794,283,0:56:99:1.000 chr4 25160732 rs34423002 T TA 151.65 R8 BaseQRankSum=0.332;DP=46;FS=0.000;HRun=15;HaplotypeScore=91.8843;MQ=56;MQ0=0;MQRankSum=0.678;QD=3.30;ReadPosRankSum=-0.476;SB=-61.10;TI=NM_016955;GI=SEPSECS;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,12:46:99:191,0,363:56:99:0.333 chr4 25678199 rs6448389 A G 1135.80 PASS BaseQRankSum=2.269;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=25.3218;MQ=57;MQ0=0;MQRankSum=3.003;QD=8.87;ReadPosRankSum=-0.192;SB=-660.79;TI=NM_006424,NM_001177998,NM_001177999;GI=SLC34A2,SLC34A2,SLC34A2;FC=Missense_D634G,Missense_D633G,Missense_D633G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,47:128:99:1166,0,2207:57:99:0.370 chr4 26491117 rs1800855 A T 942.04 PASS BaseQRankSum=1.180;DP=73;Dels=0.00;FS=10.262;HRun=0;HaplotypeScore=1.9992;MQ=54;MQ0=0;MQRankSum=-2.322;QD=12.90;ReadPosRankSum=-0.914;SB=-676.63;TI=NM_000730;GI=CCKAR;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,40:73:99:972,0,899:54:99:0.548 chr4 37903756 rs2279027 T C 3505.09 PASS DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=56;MQ0=0;QD=31.02;SB=-1642.48;TI=NM_015173;GI=TBC1D1;FC=Missense_S14P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3505,256,0:56:99:1.000 chr4 37904082 rs2279026 T C 2045.15 PASS BaseQRankSum=1.043;DP=176;Dels=0.00;FS=1.217;HRun=1;HaplotypeScore=12.1113;MQ=54;MQ0=0;MQRankSum=3.751;QD=11.62;ReadPosRankSum=-0.543;SB=-1059.76;TI=NM_015173;GI=TBC1D1;FC=Synonymous_A122A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,86:176:99:2075,0,2110:54:99:0.489 chr4 37904089 rs35859249 C T 2087.99 PASS BaseQRankSum=1.910;DP=168;Dels=0.00;FS=3.698;HRun=0;HaplotypeScore=13.0951;MQ=54;MQ0=0;MQRankSum=2.547;QD=12.43;ReadPosRankSum=-0.648;SB=-970.51;TI=NM_015173;GI=TBC1D1;FC=Missense_R125W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,81:168:99:2118,0,2025:54:99:0.485 chr4 38016395 rs10501 T G 4461.19 PASS DP=135;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=9.1079;MQ=58;MQ0=0;QD=33.05;SB=-2174.17;TI=NM_015173;GI=TBC1D1;FC=Missense_V228G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:134:99:4461,337,0:58:99:1.000 chr4 38029452 . G C 1055.72 PASS BaseQRankSum=1.468;DP=94;Dels=0.00;FS=1.716;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=0.575;QD=11.23;ReadPosRankSum=1.022;SB=-755.48;TI=NM_015173;GI=TBC1D1;FC=Synonymous_L418L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,49:94:99:1086,0,1029:55:99:0.521 chr4 38774785 rs10776482 A G 1537.95 PASS BaseQRankSum=1.597;DP=128;Dels=0.00;FS=0.683;HRun=0;HaplotypeScore=1.7882;MQ=51;MQ0=0;MQRankSum=1.130;QD=12.02;ReadPosRankSum=-2.860;SB=-744.04;TI=NM_001195108,NM_001017388,NM_001195107,NM_001195106,NM_030956;GI=TLR10,TLR10,TLR10,TLR10,TLR10;FC=Synonymous_D795D,Synonymous_D809D,Synonymous_D809D,Synonymous_D809D,Synonymous_D809D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,63:128:99:1568,0,1630:51:99:0.492 chr4 38774889 rs4129009 T C 1872.52 PASS BaseQRankSum=1.591;DP=142;Dels=0.00;FS=2.127;HRun=0;HaplotypeScore=7.4624;MQ=55;MQ0=0;MQRankSum=2.048;QD=13.19;ReadPosRankSum=-2.375;SB=-1025.69;TI=NM_001195108,NM_001017388,NM_001195107,NM_001195106,NM_030956;GI=TLR10,TLR10,TLR10,TLR10,TLR10;FC=Missense_I761V,Missense_I775V,Missense_I775V,Missense_I775V,Missense_I775V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,74:142:99:1903,0,1745:55:99:0.521 chr4 38775040 rs10776483 A G 1732.36 PASS BaseQRankSum=1.369;DP=119;Dels=0.00;FS=1.467;HRun=0;HaplotypeScore=8.3211;MQ=58;MQ0=0;MQRankSum=-0.162;QD=14.56;ReadPosRankSum=0.237;SB=-843.95;TI=NM_001195108,NM_001017388,NM_001195107,NM_001195106,NM_030956;GI=TLR10,TLR10,TLR10,TLR10,TLR10;FC=Synonymous_H710H,Synonymous_H724H,Synonymous_H724H,Synonymous_H724H,Synonymous_H724H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,60:119:99:1762,0,1669:58:99:0.504 chr4 38776107 rs11096955 T G 2535.09 PASS BaseQRankSum=2.552;DP=149;Dels=0.00;FS=1.326;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=2.475;QD=17.01;ReadPosRankSum=0.425;SB=-1193.31;TI=NM_001195108,NM_001017388,NM_001195107,NM_001195106,NM_030956;GI=TLR10,TLR10,TLR10,TLR10,TLR10;FC=Missense_I355L,Missense_I369L,Missense_I369L,Missense_I369L,Missense_I369L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,81:149:99:2565,0,1938:58:99:0.544 chr4 38776180 rs11096956 C A 1930.31 PASS BaseQRankSum=3.653;DP=127;Dels=0.00;FS=1.456;HRun=0;HaplotypeScore=4.5429;MQ=59;MQ0=0;MQRankSum=0.702;QD=15.20;ReadPosRankSum=0.321;SB=-849.72;TI=NM_001195108,NM_001017388,NM_001195107,NM_001195106,NM_030956;GI=TLR10,TLR10,TLR10,TLR10,TLR10;FC=Synonymous_P330P,Synonymous_P344P,Synonymous_P344P,Synonymous_P344P,Synonymous_P344P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,63:127:99:1960,0,1852:59:99:0.496 chr4 38776491 rs11096957 T G 2702.85 PASS BaseQRankSum=1.009;DP=188;Dels=0.00;FS=0.576;HRun=0;HaplotypeScore=3.5764;MQ=58;MQ0=0;MQRankSum=0.543;QD=14.38;ReadPosRankSum=-2.366;SB=-1020.76;TI=NM_001195108,NM_001017388,NM_001195107,NM_001195106,NM_030956;GI=TLR10,TLR10,TLR10,TLR10,TLR10;FC=Missense_N227H,Missense_N241H,Missense_N241H,Missense_N241H,Missense_N241H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,96:188:99:2733,0,2540:58:99:0.511 chr4 38798648 rs5743618;rs76798247 C A 2849.04 PASS BaseQRankSum=1.582;DP=223;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.9902;MQ=54;MQ0=3;MQRankSum=1.458;QD=12.78;ReadPosRankSum=0.164;SB=-1364.50;TI=NM_003263;GI=TLR1;FC=Missense_S602I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,104:223:99:2879,0,2878:54:99:0.468 chr4 38798935 rs5743614;rs55731057 C T 1999.03 PASS BaseQRankSum=2.368;DP=231;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6770;MQ=37;MQ0=54;MQRankSum=1.051;QD=8.65;ReadPosRankSum=0.234;SB=-913.80;TI=NM_003263;GI=TLR1;FC=Synonymous_S506S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:130,101:231:99:2029,0,2479:37:99:0.437 chr4 38799710 rs4833095 T C 416.46 PASS BaseQRankSum=-0.355;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-0.420;QD=18.11;ReadPosRankSum=-0.613;SB=-166.59;TI=NM_003263;GI=TLR1;FC=Missense_N248S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,15:23:99:446,0,234:57:99:0.652 chr4 38830350 rs5743810 A G 2042.07 PASS BaseQRankSum=-0.458;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0466;MQ=55;MQ0=0;MQRankSum=1.382;QD=13.99;ReadPosRankSum=-1.523;SB=-909.08;TI=NM_006068;GI=TLR6;FC=Missense_S249P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,73:146:99:2072,0,2030:55:99:0.500 chr4 39409381 . A T 3.53 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=-0.736;QD=1.18;ReadPosRankSum=0.736;SB=-0.01;TI=NM_175737;GI=KLB;FC=Missense_H271L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:30.98:31,0,69:53:4:0.333 chr4 39409382 . C T 3.53 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=-0.736;QD=1.18;ReadPosRankSum=0.736;SB=-0.01;TI=NM_175737;GI=KLB;FC=Synonymous_H271H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:30.98:31,0,69:53:4:0.333 chr4 39448542 rs7685429 C G 3182.96 PASS DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.6830;MQ=57;MQ0=0;QD=33.50;SB=-1403.53;TI=NM_175737;GI=KLB;FC=Synonymous_P732P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:3216,238,0:57:99:1.000 chr4 39450229 rs4975017 C A 6917.23 PASS BaseQRankSum=0.097;DP=250;Dels=0.00;FS=3.470;HRun=1;HaplotypeScore=8.3614;MQ=56;MQ0=0;MQRankSum=-0.485;QD=27.67;ReadPosRankSum=-1.718;SB=-4403.08;TI=NM_175737;GI=KLB;FC=Missense_Q1020K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,249:250:99:6917,459,0:56:99:0.996 chr4 39472935 . A T 10.58 LowVariantFreq;SB BaseQRankSum=-2.671;DP=60;Dels=0.00;FS=20.660;HRun=1;HaplotypeScore=23.2439;MQ=42;MQ0=0;MQRankSum=-2.596;QD=0.18;ReadPosRankSum=-1.442;SB=-0.01;TI=NM_006859,NM_194451;GI=LIAS,LIAS;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,6:60:40.18:40,0,1283:42:11:0.102 chr4 40045025 rs73229741 T C 473.28 PASS BaseQRankSum=1.838;DP=37;Dels=0.00;FS=1.608;HRun=0;HaplotypeScore=3.6821;MQ=57;MQ0=0;MQRankSum=0.471;QD=12.79;ReadPosRankSum=0.137;SB=-140.88;TI=NR_027277;GI=LOC344967;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,19:37:99:503,0,533:57:99:0.514 chr4 40045727 rs1704151 T G 575.75 LowDP DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=33.87;SB=-121.94;TI=NR_027277;GI=LOC344967;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,17:17:45.15:609,45,0:60:45:1.000 chr4 40058762 rs937967 G T 279.26 LowGQ;LowDP DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=56;MQ0=0;QD=25.39;SB=-155.28;TI=NR_027277,NM_018177;GI=LOC344967,N4BP2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,11:11:24.07:312,24,0:56:24:1.000 chr4 40337523 rs56241474 C T 1780.78 PASS BaseQRankSum=-0.551;DP=138;Dels=0.00;FS=0.632;HRun=1;HaplotypeScore=1.8939;MQ=54;MQ0=0;MQRankSum=4.052;QD=12.90;ReadPosRankSum=0.735;SB=-1230.53;TI=NM_017581;GI=CHRNA9;FC=Synonymous_I13I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,75:138:99:1811,0,1505:54:99:0.543 chr4 40337908 rs10022491 T C 5264.12 PASS DP=183;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=28.77;SB=-2938.77;TI=NM_017581;GI=CHRNA9;FC=Synonymous_S43S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,183:183:99:5264,379,0:54:99:1.000 chr4 40337944 rs56159866 C T 1905.43 PASS BaseQRankSum=0.616;DP=162;Dels=0.00;FS=1.290;HRun=1;HaplotypeScore=4.4430;MQ=53;MQ0=0;MQRankSum=1.109;QD=11.76;ReadPosRankSum=-1.509;SB=-933.27;TI=NM_017581;GI=CHRNA9;FC=Synonymous_V55V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,76:162:99:1935,0,2187:53:99:0.469 chr4 40356041 rs55633891 C T 1662.52 PASS BaseQRankSum=1.104;DP=179;Dels=0.00;FS=1.192;HRun=0;HaplotypeScore=0.9998;MQ=53;MQ0=0;MQRankSum=0.606;QD=9.29;ReadPosRankSum=0.394;SB=-1006.07;TI=NM_017581;GI=CHRNA9;FC=Missense_A315V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,71:179:99:1693,0,2904:53:99:0.397 chr4 40356422 rs10009228 A G 3421.88 PASS BaseQRankSum=2.251;DP=252;Dels=0.00;FS=4.307;HRun=0;HaplotypeScore=18.3135;MQ=55;MQ0=0;MQRankSum=0.474;QD=13.58;ReadPosRankSum=0.553;SB=-1711.10;TI=NM_017581;GI=CHRNA9;FC=Missense_N442S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,127:252:99:3422,0,2980:55:99:0.504 chr4 40810747 rs2261167 A G 971.99 PASS BaseQRankSum=-1.096;DP=66;Dels=0.00;FS=2.157;HRun=0;HaplotypeScore=4.5711;MQ=56;MQ0=0;MQRankSum=0.201;QD=14.73;ReadPosRankSum=-1.953;SB=-429.50;TI=NM_024677;GI=NSUN7;FC=Missense_K650E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,38:66:99:1002,0,777:56:99:0.576 chr4 41259633 rs5030732 C A 632.64 PASS BaseQRankSum=0.241;DP=54;Dels=0.00;FS=1.051;HRun=0;HaplotypeScore=0.9998;MQ=54;MQ0=0;MQRankSum=-1.220;QD=11.72;ReadPosRankSum=-1.327;SB=-424.23;TI=NM_004181;GI=UCHL1;FC=Missense_S18Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,28:54:99:663,0,530:54:99:0.528 chr4 41747899 rs17885864 G T 1521.59 PASS BaseQRankSum=1.593;DP=113;Dels=0.00;FS=5.160;HRun=0;HaplotypeScore=4.6347;MQ=51;MQ0=0;MQRankSum=1.072;QD=13.47;ReadPosRankSum=-0.055;SB=-710.17;TI=NM_003924;GI=PHOX2B;FC=Synonymous_P290P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,63:113:99:1552,0,1324:51:99:0.558 chr4 41748007 rs17884724 T G 4.52 LowGQX;LowDP BaseQRankSum=-1.380;DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=-1.380;QD=0.75;ReadPosRankSum=-0.720;SB=-16.68;TI=NM_003924;GI=PHOX2B;FC=Synonymous_A254A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,2:6:32.62:33,0,111:53:5:0.333 chr4 42895308 rs78136490 G A 165.89 SB;LowDP BaseQRankSum=2.062;DP=15;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.237;QD=11.06;ReadPosRankSum=-0.648;SB=-0.01;TI=NM_001080476;GI=GRXCR1;FC=Missense_E9K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,6:15:99:196,0,299:57:99:0.400 chr4 42965019 . C T 1462.10 PASS BaseQRankSum=0.430;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=0.364;QD=12.60;ReadPosRankSum=0.813;SB=-976.84;TI=NM_001080476;GI=GRXCR1;FC=Synonymous_N165N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,64:116:99:1492,0,1286:56:99:0.552 chr4 42965159 rs10213360 A C 436.88 SB BaseQRankSum=-0.312;DP=30;Dels=0.00;FS=3.142;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=1.309;QD=14.56;ReadPosRankSum=-1.143;SB=-0.01;TI=NM_001080476;GI=GRXCR1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,14:30:99:467,0,518:59:99:0.467 chr4 47584046 rs1058793 G A 1499.14 PASS BaseQRankSum=0.171;DP=165;Dels=0.00;FS=2.069;HRun=0;HaplotypeScore=8.0194;MQ=53;MQ0=0;MQRankSum=3.769;QD=9.09;ReadPosRankSum=-0.082;SB=-706.49;TI=NM_020453;GI=ATP10D;FC=Missense_V1240I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,59:165:99:1529,0,2396:53:99:0.360 chr4 47589203 rs1316874 G A 1349.83 PASS BaseQRankSum=-0.748;DP=112;Dels=0.00;FS=1.607;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.376;QD=12.05;ReadPosRankSum=-0.911;SB=-727.29;TI=NM_020453;GI=ATP10D;FC=Synonymous_T1307T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,58:112:99:1380,0,1402:53:99:0.518 chr4 47667064 rs11934749 T C 3984.49 PASS DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=31.62;SB=-1431.12;TI=NM_006587;GI=CORIN;FC=Missense_H525R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:3984,289,0:53:99:1.000 chr4 47682174 rs10517195 A G 5920.55 PASS BaseQRankSum=0.026;DP=234;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6538;MQ=53;MQ0=0;MQRankSum=0.146;QD=25.30;ReadPosRankSum=0.361;SB=-4260.89;TI=NM_006587;GI=CORIN;FC=Synonymous_S372S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,231:234:99:5921,348,0:53:99:0.987 chr4 47746602 . TA T 118.01 R8 BaseQRankSum=1.022;DP=42;FS=1.406;HRun=13;HaplotypeScore=105.7848;MQ=56;MQ0=0;MQRankSum=-0.905;QD=2.81;ReadPosRankSum=-0.963;SB=-50.62;TI=NM_006587;GI=CORIN;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,9:42:99:157,0,443:56:99:0.281 chr4 47839929 rs2289433 C T 1800.81 PASS DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5929;MQ=51;MQ0=0;QD=26.48;SB=-1217.56;TI=NM_006587;GI=CORIN;FC=Missense_C13Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:1834,132,0:51:99:1.000 chr4 47973110 rs7693648 G A 2200.67 PASS DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=34.9474;MQ=54;MQ0=0;QD=29.74;SB=-821.24;TI=NM_001142564,NM_000087;GI=CNGA1,CNGA1;FC=Missense_S3F,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:74:99:2234,168,0:54:99:1.000 chr4 47973119 . TA T 298.61 R8 BaseQRankSum=0.254;DP=72;FS=4.105;HRun=12;HaplotypeScore=363.8519;MQ=53;MQ0=0;MQRankSum=0.761;QD=4.15;ReadPosRankSum=1.411;SB=-141.55;TI=NM_001142564,NM_000087;GI=CNGA1,CNGA1;FC=Splicing,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,19:72:99:338,0,1075:53:99:0.279 chr4 54310281 rs11723755 T G 1170.37 PASS BaseQRankSum=0.589;DP=109;Dels=0.00;FS=3.548;HRun=0;HaplotypeScore=5.3645;MQ=53;MQ0=0;MQRankSum=0.046;QD=10.74;ReadPosRankSum=-2.219;SB=-605.52;TI=NM_030917,NM_001134937,NM_001134938;GI=FIP1L1,FIP1L1,FIP1L1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,48:109:99:1200,0,1578:53:99:0.440 chr4 55130078 rs2229307 T C 65.49 LowDP BaseQRankSum=-0.896;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-1.769;QD=5.95;ReadPosRankSum=-1.398;SB=-34.63;TI=NM_006206;GI=PDGFRA;FC=Synonymous_N204N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,4:11:95.48:95,0,221:60:65:0.364 chr4 55133726 rs4358459 T G 1732.27 PASS BaseQRankSum=1.432;DP=140;Dels=0.00;FS=1.413;HRun=2;HaplotypeScore=4.6703;MQ=56;MQ0=0;MQRankSum=3.120;QD=12.37;ReadPosRankSum=0.810;SB=-680.09;TI=NM_006206;GI=PDGFRA;FC=Synonymous_G313G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,63:140:99:1762,0,2056:56:99:0.453 chr4 55139771 rs35597368 T C 1322.26 PASS BaseQRankSum=0.596;DP=117;Dels=0.00;FS=0.703;HRun=3;HaplotypeScore=8.0363;MQ=55;MQ0=0;MQRankSum=1.579;QD=11.30;ReadPosRankSum=-0.199;SB=-786.42;TI=NM_006206;GI=PDGFRA;FC=Missense_S478P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,59:117:99:1352,0,1265:55:99:0.509 chr4 55141055 rs1873778 A G 1948.97 PASS DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.25;SB=-1294.23;TI=NM_006206;GI=PDGFRA;FC=Synonymous_P567P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:1982,141,0:57:99:1.000 chr4 55143577 rs10028020 G A 1093.12 PASS BaseQRankSum=1.600;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7840;MQ=54;MQ0=0;MQRankSum=2.060;QD=10.12;ReadPosRankSum=-0.513;SB=-691.46;TI=NM_006206;GI=PDGFRA;FC=Synonymous_A603A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,46:108:99:1123,0,1494:54:99:0.426 chr4 55152040 rs2228230 C T 873.59 PASS BaseQRankSum=-0.196;DP=65;Dels=0.00;FS=1.036;HRun=1;HaplotypeScore=2.7880;MQ=53;MQ0=0;MQRankSum=0.506;QD=13.44;ReadPosRankSum=-2.083;SB=-454.70;TI=NM_006206;GI=PDGFRA;FC=Synonymous_V824V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,40:65:99:904,0,491:53:99:0.615 chr4 55161391 rs7685117 T C 2277.45 PASS DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=49;MQ0=0;QD=26.18;SB=-1519.71;TI=NM_006206;GI=PDGFRA;FC=Synonymous_D1074D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2310,163,0:49:99:1.000 chr4 55968053 rs7655964 A C 4405.32 PASS BaseQRankSum=1.234;DP=158;Dels=0.03;FS=3.586;HRun=0;HaplotypeScore=13.1450;MQ=55;MQ0=0;MQRankSum=0.691;QD=27.88;ReadPosRankSum=1.211;SB=-2543.80;TI=NM_002253;GI=KDR;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,152:154:99:4405,286,0:55:99:0.993 chr4 56262374 rs1128141 A G 1222.74 PASS DP=40;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9159;MQ=56;MQ0=0;QD=30.57;SB=-731.84;TI=NM_018475;GI=TMEM165;FC=Synonymous_P6P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:40:93.30:1256,93,0:56:93:1.000 chr4 56291620 rs35154686 CAA C 2369.34 PASS BaseQRankSum=0.124;DP=83;FS=0.000;HRun=2;HaplotypeScore=62.0283;MQ=55;MQ0=0;MQRankSum=-0.383;QD=28.55;ReadPosRankSum=1.019;SB=-1056.19;TI=NM_018475;GI=TMEM165;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,48:83:99:2408,0,1694:55:99:0.578 chr4 56309992 rs3736544 A G 6875.09 PASS BaseQRankSum=1.253;DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3310;MQ=56;MQ0=0;MQRankSum=0.062;QD=30.69;ReadPosRankSum=-0.572;SB=-3231.95;TI=NM_004898;GI=CLOCK;FC=Synonymous_N588N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,223:224:99:6875,466,0:56:99:0.996 chr4 56471433 rs1873091 A G 1165.62 PASS BaseQRankSum=1.768;DP=128;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=0.900;QD=9.11;ReadPosRankSum=1.836;SB=-656.24;TI=NM_006681;GI=NMU;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,52:128:99:1196,0,1652:53:99:0.406 chr4 56475338 rs3805383 G A 923.68 PASS BaseQRankSum=-0.056;DP=107;Dels=0.00;FS=5.443;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.757;QD=8.63;ReadPosRankSum=-1.863;SB=-281.68;TI=NM_006681;GI=NMU;FC=Synonymous_N76N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,36:107:99:954,0,1804:53:99:0.336 chr4 56502307 rs3828555 G T 366.79 PASS BaseQRankSum=0.512;DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-0.561;QD=13.58;ReadPosRankSum=-0.659;SB=-207.31;TI=NM_006681;GI=NMU;FC=Missense_A18E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,15:27:99:397,0,299:58:99:0.556 chr4 57273840 rs11538098 C G 984.10 PASS BaseQRankSum=1.827;DP=115;Dels=0.00;FS=3.584;HRun=1;HaplotypeScore=3.7913;MQ=52;MQ0=0;MQRankSum=0.531;QD=8.56;ReadPosRankSum=0.956;SB=-589.21;TI=NM_002703;GI=PPAT;FC=Synonymous_S57S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,42:115:99:1014,0,1731:52:99:0.365 chr4 57333822 rs12513091 G T 528.88 PASS BaseQRankSum=-0.008;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5845;MQ=59;MQ0=0;MQRankSum=0.621;QD=9.44;ReadPosRankSum=0.720;SB=-239.28;TI=NM_006947;GI=SRP72;FC=Synonymous_G7G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,24:56:99:559,0,744:59:99:0.429 chr4 57344588 . A G 1073.23 PASS BaseQRankSum=0.982;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1368;MQ=56;MQ0=0;MQRankSum=1.876;QD=11.54;ReadPosRankSum=-1.006;SB=-362.89;TI=NM_006947;GI=SRP72;FC=Missense_H229R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,43:93:99:1103,0,1317:56:99:0.462 chr4 57906986 rs3755906 A T 1834.75 PASS BaseQRankSum=2.475;DP=171;Dels=0.00;FS=0.561;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=0.020;QD=10.73;ReadPosRankSum=-0.258;SB=-1326.59;TI=NM_001553;GI=IGFBP7;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,80:171:99:1865,0,2025:51:99:0.468 chr4 57976487 rs11573021 G A 169.70 PASS BaseQRankSum=-0.107;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3135;MQ=51;MQ0=0;MQRankSum=0.604;QD=8.08;ReadPosRankSum=-0.746;SB=-61.96;TI=NM_001553,NR_034081;GI=IGFBP7,LOC255130;FC=Missense_L11F,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,9:21:99:200,0,258:51:99:0.429 chr4 66280171 rs2305351 C T 2279.09 PASS BaseQRankSum=-1.481;DP=172;Dels=0.00;FS=0.599;HRun=0;HaplotypeScore=10.4671;MQ=54;MQ0=0;MQRankSum=0.503;QD=13.25;ReadPosRankSum=-0.620;SB=-1094.75;TI=NM_182472,NM_004439;GI=EPHA5,EPHA5;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,94:172:99:2309,0,1985:54:99:0.547 chr4 66509085 rs33932471 T G 582.13 PASS BaseQRankSum=1.757;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=51;MQ0=0;MQRankSum=-1.039;QD=4.51;ReadPosRankSum=-0.408;SB=-439.37;TI=NM_182472,NM_004439;GI=EPHA5,EPHA5;FC=Missense_N81T,Missense_N81T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,33:129:99:612,0,2161:51:99:0.256 chr4 68784774 rs353163 T C 2216.98 PASS BaseQRankSum=3.095;DP=172;Dels=0.00;FS=1.247;HRun=1;HaplotypeScore=2.6548;MQ=55;MQ0=0;MQRankSum=0.040;QD=12.89;ReadPosRankSum=-1.126;SB=-1179.65;TI=NM_182606,NM_001114387;GI=TMPRSS11A,TMPRSS11A;FC=Missense_Q293R,Missense_Q290R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,91:172:99:2247,0,2042:55:99:0.529 chr4 68810246 rs1370840 G A 393.00 PASS BaseQRankSum=0.486;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-0.378;QD=11.91;ReadPosRankSum=-0.955;SB=-265.27;TI=NM_182606,NM_001114387;GI=TMPRSS11A,TMPRSS11A;FC=Synonymous_T81T,Synonymous_T81T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,16:33:99:423,0,515:57:99:0.485 chr4 68812283 rs11930532 C T 695.04 PASS BaseQRankSum=1.275;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8936;MQ=48;MQ0=0;MQRankSum=-0.369;QD=8.08;ReadPosRankSum=0.941;SB=-528.04;TI=NM_182606,NM_001114387;GI=TMPRSS11A,TMPRSS11A;FC=Synonymous_V6V,Synonymous_V6V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,35:86:99:725,0,1234:48:99:0.407 chr4 68829109 rs977728 C T 716.69 PASS BaseQRankSum=2.310;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=48;MQ0=0;MQRankSum=0.609;QD=7.39;ReadPosRankSum=-0.647;SB=-494.49;TI=NM_182606,NM_001114387;GI=TMPRSS11A,TMPRSS11A;FC=Missense_M1I,Missense_M1I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,34:97:99:747,0,1444:48:99:0.354 chr4 69416556 rs13102139;rs76661554 T C 1810.90 PASS BaseQRankSum=2.016;DP=242;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=49;MQ0=1;MQRankSum=-4.333;QD=7.48;ReadPosRankSum=-0.756;SB=-944.29;TI=NM_001077,NM_001076;GI=UGT2B17,UGT2B15;FC=Synonymous_A384A,Synonymous_A384A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:164,78:242:99:1841,0,4005:49:99:0.322 chr4 69417570 rs28374627;rs76593659 A G 1524.66 PASS BaseQRankSum=-0.908;DP=119;Dels=0.00;FS=7.440;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=3;MQRankSum=0.364;QD=12.81;ReadPosRankSum=-0.430;SB=-497.61;TI=NM_001077,NM_001076;GI=UGT2B17,UGT2B15;FC=Synonymous_Y355Y,Synonymous_Y355Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,55:119:99:1555,0,1865:56:99:0.462 chr4 69433714 rs34664906 C T 7818.45 PASS BaseQRankSum=-1.765;DP=257;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.9796;MQ=56;MQ0=0;MQRankSum=-2.063;QD=30.42;ReadPosRankSum=-0.125;SB=-4485.96;TI=NM_001077,NM_001076;GI=UGT2B17,UGT2B15;FC=Synonymous_E163E,Synonymous_E163E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,253:257:99:7818,501,0:56:99:0.988 chr4 69512847 rs4148269 T G 6302.39 PASS DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7808;MQ=58;MQ0=1;QD=31.36;SB=-3675.96;TI=NM_001076;GI=UGT2B15;FC=Missense_K523T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,201:201:99:6302,461,0:58:99:1.000 chr4 69536084 rs1902023 A C 3385.25 PASS BaseQRankSum=1.157;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7739;MQ=58;MQ0=0;MQRankSum=1.568;QD=15.97;ReadPosRankSum=0.672;SB=-2075.03;TI=NM_001076;GI=UGT2B15;FC=Missense_Y85D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,126:212:99:3385,0,2253:58:99:0.594 chr4 69687987 rs2942857 C A 1074.10 PASS DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=54;MQ0=0;QD=31.59;SB=-355.26;TI=NM_001144767,NM_001075;GI=UGT2B10,UGT2B10;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:84.26:1107,84,0:54:84:1.000 chr4 69875627 rs2331627 G A 2537.80 PASS DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.86;SB=-1204.93;TI=NM_001144767,NM_001075;GI=UGT2B10,UGT2B10;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2571,187,0:55:99:1.000 chr4 69964271 rs28365062 A G 1922.49 PASS DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0908;MQ=55;MQ0=0;QD=31.01;SB=-459.56;TI=NM_001074;GI=UGT2B7;FC=Synonymous_T245T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:62:99:1955,153,0:55:99:1.000 chr4 69964337 rs7438284 A T 3427.92 PASS BaseQRankSum=-0.827;DP=111;Dels=0.00;FS=4.000;HRun=1;HaplotypeScore=2.6823;MQ=53;MQ0=0;MQRankSum=1.638;QD=30.88;ReadPosRankSum=1.482;SB=-1592.19;TI=NM_001074;GI=UGT2B7;FC=Synonymous_P267P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,110:111:99:3428,228,0:53:99:0.991 chr4 69964338 rs7439366 T C 3471.73 PASS BaseQRankSum=0.475;DP=113;Dels=0.00;FS=3.921;HRun=0;HaplotypeScore=2.6823;MQ=52;MQ0=0;MQRankSum=1.456;QD=30.72;ReadPosRankSum=1.303;SB=-1644.29;TI=NM_001074;GI=UGT2B7;FC=Missense_Y268H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,112:113:99:3472,228,0:52:99:0.991 chr4 69972949 rs4292394;rs76973289 C G 2628.86 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=27.97;SB=-1674.01;TI=NM_001074;GI=UGT2B7;FC=Synonymous_L353L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2662,190,0:55:99:1.000 chr4 69972952 rs4348159 C T 2664.58 PASS DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.05;SB=-1664.03;TI=NM_001074;GI=UGT2B7;FC=Synonymous_Y354Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:2698,193,0:55:99:1.000 chr4 70146230 rs13139691 G A 4082.70 PASS DP=138;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=56;MQ0=1;QD=29.58;SB=-1747.29;TI=NM_053039;GI=UGT2B28;FC=Synonymous_K4K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:138:99:4083,295,0:56:99:1.000 chr4 70146704 rs7689398 G A 1717.21 PASS BaseQRankSum=-1.258;DP=126;Dels=0.00;FS=0.997;HRun=0;HaplotypeScore=7.4698;MQ=59;MQ0=0;MQRankSum=-0.105;QD=13.63;ReadPosRankSum=0.984;SB=-312.73;TI=NM_053039;GI=UGT2B28;FC=Synonymous_A162A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,60:126:99:1747,0,2139:59:99:0.476 chr4 70156313 rs4235127;rs78893064;rs79553409 T A 1426.05 PASS BaseQRankSum=1.327;DP=128;Dels=0.00;FS=2.533;HRun=0;HaplotypeScore=5.5759;MQ=49;MQ0=10;MQRankSum=-3.512;QD=11.14;ReadPosRankSum=2.136;SB=-526.69;TI=NM_053039;GI=UGT2B28;FC=Missense_L365H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,65:128:99:1456,0,1557:49:99:0.508 chr4 70156392 rs10013145;rs76451955 A G 1665.21 PASS BaseQRankSum=-0.175;DP=171;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6545;MQ=46;MQ0=21;MQRankSum=-7.675;QD=9.74;ReadPosRankSum=3.102;SB=-1004.09;TI=NM_053039;GI=UGT2B28;FC=Synonymous_V391V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,91:171:99:1695,0,1900:46:99:0.532 chr4 70160277 rs6843900;rs78792884 T G 2445.75 PASS BaseQRankSum=-1.102;DP=180;Dels=0.00;FS=3.562;HRun=0;HaplotypeScore=2.6823;MQ=52;MQ0=3;MQRankSum=5.721;QD=13.59;ReadPosRankSum=0.502;SB=-1594.60;TI=NM_053039;GI=UGT2B28;FC=Missense_I447R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,102:180:99:2476,0,1743:52:99:0.567 chr4 70160309 rs6828191 C G 2817.98 PASS BaseQRankSum=-0.936;DP=200;Dels=0.00;FS=1.833;HRun=1;HaplotypeScore=11.1439;MQ=52;MQ0=4;MQRankSum=5.946;QD=14.09;ReadPosRankSum=1.240;SB=-1988.38;TI=NM_053039;GI=UGT2B28;FC=Missense_H458D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,121:200:99:2848,0,1683:52:99:0.605 chr4 70160338 rs72552703 G C 1153.95 PASS BaseQRankSum=2.727;DP=168;Dels=0.00;FS=0.621;HRun=0;HaplotypeScore=5.4688;MQ=52;MQ0=2;MQRankSum=-4.445;QD=6.87;ReadPosRankSum=-0.265;SB=-712.29;TI=NM_053039;GI=UGT2B28;FC=Synonymous_V467V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,58:168:99:1184,0,2835:52:99:0.345 chr4 70160342 rs72552704 T C 1059.27 PASS BaseQRankSum=1.610;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=52;MQ0=2;MQRankSum=-4.909;QD=6.62;ReadPosRankSum=0.524;SB=-555.17;TI=NM_053039;GI=UGT2B28;FC=Missense_C469R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,53:160:99:1089,0,2960:52:99:0.331 chr4 70160343 rs72552705 G C 1025.15 PASS BaseQRankSum=0.844;DP=157;Dels=0.00;FS=1.412;HRun=2;HaplotypeScore=4.4704;MQ=52;MQ0=2;MQRankSum=-5.104;QD=6.53;ReadPosRankSum=0.542;SB=-489.04;TI=NM_053039;GI=UGT2B28;FC=Missense_C469S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,52:157:99:1055,0,2877:52:99:0.331 chr4 70462042 rs4148301 C T 1579.45 PASS BaseQRankSum=-0.097;DP=129;Dels=0.00;FS=0.663;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=0.073;QD=12.24;ReadPosRankSum=-1.048;SB=-827.49;TI=NM_006798,NM_001105677;GI=UGT2A1,UGT2A2;FC=Missense_G308R,Missense_G309R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,66:129:99:1609,0,1637:55:99:0.512 chr4 70501536 . T A 17.18 SB;LowDP BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=29;MQ0=0;MQRankSum=-1.026;QD=4.30;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_006798,NM_001105677;GI=UGT2A1,UGT2A2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:47.09:47,0,55:29:17:0.500 chr4 70501545 rs28560191 C A 101.24 LowGQ;SB;LowDP DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7258;MQ=29;MQ0=0;QD=25.31;SB=-0.01;TI=NM_006798,NM_001105677;GI=UGT2A1,UGT2A2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,4:4:12.03:134,12,0:29:12:1.000 chr4 70513139 rs1347046 C T 7489.79 PASS DP=250;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4704;MQ=56;MQ0=0;QD=29.96;SB=-4110.51;TI=NM_006798;GI=UGT2A1;FC=Missense_R75K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,249:250:99:7490,542,0:56:99:1.000 chr4 70898907 rs1849937 C T 2324.97 PASS BaseQRankSum=1.578;DP=184;Dels=0.00;FS=2.573;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=2.431;QD=12.64;ReadPosRankSum=-0.213;SB=-1347.25;TI=NM_000200;GI=HTN3;FC=Synonymous_G42G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,91:184:99:2355,0,2400:55:99:0.495 chr4 71347240 . T C 22.32 LowVariantFreq BaseQRankSum=-1.201;DP=24;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=13.9708;MQ=48;MQ0=0;MQRankSum=0.581;QD=0.93;ReadPosRankSum=-1.743;SB=-12.38;TI=NM_001145006,NM_001145007,NM_152291;GI=MUC7,MUC7,MUC7;FC=Missense_V260A,Missense_V260A,Missense_V260A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,4:24:52.29:52,0,419:48:22:0.167 chr4 71347363 . A C 8.13 LowGQX;LowVariantFreq;SB BaseQRankSum=0.320;DP=23;Dels=0.00;FS=9.565;HRun=1;HaplotypeScore=4.5498;MQ=52;MQ0=0;MQRankSum=-2.602;QD=0.35;ReadPosRankSum=0.320;SB=-0.01;TI=NM_001145006,NM_001145007,NM_152291;GI=MUC7,MUC7,MUC7;FC=Missense_Q301P,Missense_Q301P,Missense_Q301P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,3:23:37.40:37,0,512:52:8:0.130 chr4 72352703 . G A 738.93 PASS BaseQRankSum=1.640;DP=80;Dels=0.00;FS=0.878;HRun=1;HaplotypeScore=1.8888;MQ=51;MQ0=0;MQRankSum=-0.667;QD=9.24;ReadPosRankSum=0.511;SB=-451.12;TI=NM_001134742,NM_001098484,NM_003759;GI=SLC4A4,SLC4A4,SLC4A4;FC=Missense_E648K,Missense_E648K,Missense_E604K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,34:80:99:769,0,1053:51:99:0.425 chr4 72425863 rs1453458 C T 4174.74 PASS DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4404;MQ=56;MQ0=0;QD=30.25;SB=-2528.01;TI=NM_001134742,NM_001098484,NM_003759;GI=SLC4A4,SLC4A4,SLC4A4;FC=Synonymous_H997H,Synonymous_H997H,Synonymous_H953H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:138:99:4175,307,0:56:99:1.000 chr4 72433545 rs1062677 A C 2478.57 PASS BaseQRankSum=1.199;DP=166;Dels=0.00;FS=7.523;HRun=0;HaplotypeScore=20.0663;MQ=56;MQ0=0;MQRankSum=0.771;QD=14.93;ReadPosRankSum=0.520;SB=-1436.90;TI=NM_001134742,NM_001098484,NM_003759;GI=SLC4A4,SLC4A4,SLC4A4;FC=Missense_I1074L,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,101:166:99:2509,0,1529:56:99:0.612 chr4 72618296 rs9016 T C 4462.36 PASS DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=52;MQ0=0;QD=26.88;SB=-3081.23;TI=NM_000583;GI=GC;FC=Missense_H445R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,166:166:99:4462,316,0:52:99:1.000 chr4 72618334 rs7041 A C 1547.41 PASS BaseQRankSum=2.770;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7878;MQ=53;MQ0=0;MQRankSum=3.434;QD=13.34;ReadPosRankSum=0.058;SB=-786.62;TI=NM_000583;GI=GC;FC=Missense_D432E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,62:116:99:1577,0,1267:53:99:0.534 chr4 72649774 rs3733359 G A 941.80 PASS BaseQRankSum=-1.996;DP=103;Dels=0.00;FS=4.972;HRun=0;HaplotypeScore=3.5981;MQ=52;MQ0=0;MQRankSum=0.839;QD=9.14;ReadPosRankSum=-0.612;SB=-553.69;TI=NM_000583;GI=GC;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,43:103:99:972,0,1388:52:99:0.417 chr4 74302870 rs16849384 T C 970.95 PASS DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=26.97;SB=-686.46;TI=NM_001134;GI=AFP;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,36:36:72.23:1004,72,0:56:72:1.000 chr4 74310844 rs2298839 A G 1385.02 PASS BaseQRankSum=-0.573;DP=131;Dels=0.00;FS=2.244;HRun=1;HaplotypeScore=3.5707;MQ=54;MQ0=0;MQRankSum=2.495;QD=10.57;ReadPosRankSum=1.205;SB=-897.80;TI=NM_001134;GI=AFP;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,57:131:99:1415,0,1651:54:99:0.435 chr4 74313169 rs7667494 T C 1644.44 PASS DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=28.85;SB=-971.04;TI=NM_001134;GI=AFP;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:57:99:1677,126,0:56:99:1.000 chr4 74318330 rs4235117 A G 1411.74 PASS DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=26.64;SB=-920.91;TI=NM_001134;GI=AFP;FC=Synonymous_T547T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1445,102,0:57:99:1.000 chr4 74863997 rs425535 T C 5409.17 PASS BaseQRankSum=1.714;DP=190;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=13.0902;MQ=56;MQ0=0;MQRankSum=1.659;QD=28.47;ReadPosRankSum=0.766;SB=-3523.44;TI=NM_002994;GI=CXCL5;FC=Synonymous_Q56Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,189:190:99:5409,391,0:56:99:0.995 chr4 77631425 rs3821979 T A 758.89 PASS BaseQRankSum=-0.637;DP=65;Dels=0.00;FS=2.136;HRun=0;HaplotypeScore=1.8664;MQ=54;MQ0=0;MQRankSum=1.596;QD=11.68;ReadPosRankSum=2.042;SB=-450.10;TI=NM_020859;GI=SHROOM3;FC=Missense_L147H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,34:65:99:789,0,725:54:99:0.523 chr4 77660162 rs344140 G C 6229.53 PASS DP=223;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.0057;MQ=54;MQ0=0;QD=27.94;SB=-4206.72;TI=NM_020859;GI=SHROOM3;FC=Missense_G279A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,223:223:99:6230,448,0:54:99:1.000 chr4 77675505 rs3733242 C T 969.06 PASS DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.69;SB=-437.54;TI=NM_020859;GI=SHROOM3;FC=Missense_P1290L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:35:72.24:1002,72,0:53:72:1.000 chr4 79186171 rs2867014 G A 1533.52 PASS DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;QD=25.56;SB=-1143.68;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:1567,111,0:50:99:1.000 chr4 79205699 rs12504081 T A 484.85 PASS BaseQRankSum=-0.219;DP=38;Dels=0.00;FS=1.569;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=1.418;QD=12.76;ReadPosRankSum=-2.207;SB=-92.17;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_L466I,Missense_L466I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,18:38:99:515,0,565:56:99:0.474 chr4 79238649 rs345514 T C 4972.19 PASS DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0979;MQ=54;MQ0=0;QD=28.25;SB=-3465.35;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Synonymous_H649H,Synonymous_H649H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,176:176:99:4972,358,0:54:99:1.000 chr4 79240063 rs345513 A G 884.14 PASS BaseQRankSum=3.911;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8653;MQ=52;MQ0=0;MQRankSum=2.033;QD=8.42;ReadPosRankSum=0.384;SB=-652.74;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_D687G,Missense_D687G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,41:105:99:914,0,1551:52:99:0.390 chr4 79284694 rs6835769 C T 5317.97 PASS DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=50;MQ0=0;QD=26.86;SB=-3378.96;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_A817V,Missense_A817V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,198:198:99:5318,376,0:50:99:1.000 chr4 79300899 rs35774552 T C 3015.00 PASS BaseQRankSum=2.349;DP=239;Dels=0.00;FS=8.140;HRun=1;HaplotypeScore=4.5939;MQ=55;MQ0=0;MQRankSum=-1.242;QD=12.62;ReadPosRankSum=-0.600;SB=-1775.07;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Synonymous_S1104S,Synonymous_S1104S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:115,124:239:99:3045,0,3257:55:99:0.519 chr4 79300993 rs12512164 G A 7710.68 PASS DP=246;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.2418;MQ=55;MQ0=0;QD=31.34;SB=-4181.57;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_E1136K,Missense_E1136K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,246:246:99:7711,566,0:55:99:1.000 chr4 79372930 rs753752 C T 1298.35 PASS DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=27.62;SB=-675.67;TI=NM_025074;GI=FRAS1;FC=Synonymous_H2156H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:96.32:1331,96,0:54:96:1.000 chr4 79385719 rs6851427 G A 4930.70 PASS BaseQRankSum=1.551;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2774;MQ=55;MQ0=0;MQRankSum=0.262;QD=28.67;ReadPosRankSum=0.141;SB=-2778.03;TI=NM_025074;GI=FRAS1;FC=Synonymous_A2337A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,171:172:99:4931,330,0:55:99:0.994 chr4 79387464 rs7684722 A G 5065.90 PASS BaseQRankSum=1.693;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2924;MQ=53;MQ0=0;MQRankSum=0.493;QD=28.30;ReadPosRankSum=0.726;SB=-3198.97;TI=NM_025074;GI=FRAS1;FC=Missense_K2378E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,178:179:99:5066,367,0:53:99:0.994 chr4 79391256 rs7664505 T C 964.16 PASS DP=28;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=34.43;SB=-270.27;TI=NM_025074;GI=FRAS1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,28:28:75.24:997,75,0:59:75:1.000 chr4 79400868 rs11098194 C T 726.49 SB;LowDP DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=38.24;SB=-0.01;TI=NM_025074;GI=FRAS1;FC=Synonymous_D2813D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:19:57.19:759,57,0:60:57:1.000 chr4 79833182 . C T 159.63 LowDP BaseQRankSum=-0.634;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-1.122;QD=9.39;ReadPosRankSum=0.927;SB=-50.66;TI=NM_198892;GI=BMP2K;FC=Nonsense_Q1161X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,7:17:99:190,0,291:58:99:0.412 chr4 80905990 rs12647691 C G 1060.76 PASS BaseQRankSum=-1.074;DP=112;Dels=0.04;FS=0.758;HRun=4;HaplotypeScore=35.7205;MQ=53;MQ0=0;MQRankSum=1.569;QD=9.47;ReadPosRankSum=1.387;SB=-575.23;TI=NM_058172,NM_001145794;GI=ANTXR2,ANTXR2;FC=Missense_A357P,Missense_A357P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,48:107:99:1091,0,1472:53:99:0.449 chr4 84191031 rs6535454 A G 3197.08 PASS BaseQRankSum=-1.039;DP=100;Dels=0.00;FS=3.565;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-0.727;QD=31.97;ReadPosRankSum=0.589;SB=-1661.69;TI=NM_015697;GI=COQ2;FC=Synonymous_D298D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,99:100:99:3230,206,0:56:99:0.990 chr4 84205872 rs6818847 C A 1408.90 PASS DP=50;Dels=0.06;FS=0.000;HRun=1;HaplotypeScore=10.8054;MQ=54;MQ0=0;QD=28.18;SB=-641.93;TI=NM_015697;GI=COQ2;FC=Missense_V66L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:99:1442,108,0:54:99:1.000 chr4 84364751 rs7665103 A G 1757.71 PASS BaseQRankSum=0.606;DP=116;Dels=0.00;FS=2.485;HRun=0;HaplotypeScore=5.4987;MQ=55;MQ0=0;MQRankSum=-0.880;QD=15.15;ReadPosRankSum=0.514;SB=-1073.29;TI=NM_133636;GI=HELQ;FC=Synonymous_I494I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,73:116:99:1788,0,1112:55:99:0.629 chr4 84370091 rs13141136 A G 1362.01 PASS BaseQRankSum=0.151;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3612;MQ=56;MQ0=0;MQRankSum=0.487;QD=15.48;ReadPosRankSum=-1.033;SB=-582.39;TI=NM_133636;GI=HELQ;FC=Synonymous_L346L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,49:88:99:1392,0,1134:56:99:0.557 chr4 84370124 rs11348140 TA T 343.29 R8 BaseQRankSum=1.891;DP=34;FS=6.488;HRun=11;HaplotypeScore=87.9179;MQ=59;MQ0=0;MQRankSum=-0.919;QD=10.10;ReadPosRankSum=0.810;SB=-37.67;TI=NM_133636;GI=HELQ;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,16:34:99:382,0,280:59:99:0.533 chr4 84374480 rs1494961 C T 1029.59 PASS BaseQRankSum=1.242;DP=65;Dels=0.00;FS=7.076;HRun=1;HaplotypeScore=4.5761;MQ=59;MQ0=0;MQRankSum=0.141;QD=15.84;ReadPosRankSum=1.766;SB=-22.59;TI=NM_133636;GI=HELQ;FC=Missense_V306I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,32:65:99:1060,0,984:59:99:0.500 chr4 84376697 . G A 1715.76 PASS BaseQRankSum=-2.133;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=56;MQ0=0;MQRankSum=1.200;QD=12.71;ReadPosRankSum=0.099;SB=-946.16;TI=NM_133636;GI=HELQ;FC=Synonymous_N50N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,61:135:99:1746,0,1981:56:99:0.452 chr4 84376743 rs6831595 A T 3613.13 PASS DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.6714;MQ=55;MQ0=0;QD=30.62;SB=-1488.22;TI=NM_133636;GI=HELQ;FC=Missense_V35E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:118:99:3613,277,0:55:99:1.000 chr4 85762385 rs2046402 T C 633.26 PASS BaseQRankSum=2.385;DP=58;Dels=0.00;FS=3.683;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.949;QD=10.92;ReadPosRankSum=0.920;SB=-430.81;TI=NM_014991;GI=WDFY3;FC=Synonymous_L112L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,27:58:99:663,0,838:57:99:0.466 chr4 86844835 rs6824722 A G 834.10 PASS BaseQRankSum=0.293;DP=73;Dels=0.00;FS=8.176;HRun=0;HaplotypeScore=3.6770;MQ=54;MQ0=0;MQRankSum=2.321;QD=11.43;ReadPosRankSum=-0.586;SB=-373.67;TI=NM_001025616,NM_001042669;GI=ARHGAP24,ARHGAP24;FC=Synonymous_E101E,Synonymous_E6E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,35:73:99:864,0,882:54:99:0.486 chr4 86915848 rs10003909 T C 4481.23 PASS DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=53;MQ0=0;QD=26.52;SB=-2951.05;TI=NM_001025616,NM_001042669,NM_031305;GI=ARHGAP24,ARHGAP24,ARHGAP24;FC=Synonymous_N347N,Synonymous_N252N,Synonymous_N254N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,169:169:99:4481,316,0:53:99:1.000 chr4 86915923 rs11547776 G A 4199.95 PASS BaseQRankSum=-0.436;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.2450;MQ=53;MQ0=0;MQRankSum=-1.915;QD=30.43;ReadPosRankSum=0.526;SB=-2297.44;TI=NM_001025616,NM_001042669,NM_031305;GI=ARHGAP24,ARHGAP24,ARHGAP24;FC=Synonymous_R372R,Synonymous_R277R,Synonymous_R279R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,136:138:99:4200,241,0:53:99:0.986 chr4 87684031 rs710832 A G 2362.78 PASS BaseQRankSum=0.274;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4243;MQ=55;MQ0=0;MQRankSum=-0.381;QD=14.41;ReadPosRankSum=-0.203;SB=-1358.83;TI=NM_080683,NM_080684,NM_080685,NM_006264;GI=PTPN13,PTPN13,PTPN13,PTPN13;FC=Synonymous_P1235P,Synonymous_P1044P,Synonymous_P1235P,Synonymous_P1216P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,94:164:99:2393,0,1716:55:99:0.577 chr4 88732531 rs4693878 T C 246.55 LowGQ;LowDP DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=27.39;SB=-109.24;TI=NM_004967;GI=IBSP;FC=Synonymous_N141N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,9:9:21.06:279,21,0:56:21:1.000 chr4 88732746 rs13144371 A G 123.84 LowGQ;LowDP DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=30.96;SB=-40.19;TI=NM_004967;GI=IBSP;FC=Missense_D213G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,4:4:12.04:156,12,0:60:12:1.000 chr4 88732911 rs1054628 C T 76.25 SB;LowDP BaseQRankSum=0.406;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=1.537;QD=12.71;ReadPosRankSum=0.406;SB=-0.01;TI=NM_004967;GI=IBSP;FC=Missense_A268V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,3:6:70.37:106,0,70:60:70:0.500 chr4 88732918 rs1054629 A T 40.35 LowDP BaseQRankSum=-0.406;DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.406;QD=6.73;ReadPosRankSum=-0.406;SB=-37.80;TI=NM_004967;GI=IBSP;FC=Missense_E270D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,3:6:70.34:70,0,106:60:40:0.500 chr4 88898941 rs11728697 C T 1564.85 PASS BaseQRankSum=-1.040;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8244;MQ=49;MQ0=0;MQRankSum=-0.752;QD=11.42;ReadPosRankSum=0.997;SB=-1127.48;TI=NM_001040060,NM_001040058,NM_000582;GI=SPP1,SPP1,SPP1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,71:137:99:1595,0,1470:49:99:0.518 chr4 88902692 rs4754 T C 2344.70 PASS BaseQRankSum=2.577;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3305;MQ=54;MQ0=0;MQRankSum=2.953;QD=11.49;ReadPosRankSum=-1.446;SB=-1380.32;TI=NM_001040060,NM_001040058,NM_000582;GI=SPP1,SPP1,SPP1;FC=Synonymous_D67D,Synonymous_D94D,Synonymous_D80D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,94:204:99:2375,0,2866:54:99:0.463 chr4 88902851 rs35382133 T C 2405.50 PASS BaseQRankSum=4.199;DP=185;Dels=0.00;FS=1.209;HRun=2;HaplotypeScore=3.6821;MQ=56;MQ0=0;MQRankSum=1.625;QD=13.00;ReadPosRankSum=-0.902;SB=-1068.00;TI=NM_001040060,NM_001040058,NM_000582;GI=SPP1,SPP1,SPP1;FC=Synonymous_T120T,Synonymous_T147T,Synonymous_T133T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,95:185:99:2435,0,2192:56:99:0.514 chr4 88903853 rs1126616 C T 2241.59 PASS BaseQRankSum=0.447;DP=167;Dels=0.00;FS=1.950;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=3.417;QD=13.42;ReadPosRankSum=-2.366;SB=-1146.66;TI=NM_001040060,NM_001040058,NM_000582;GI=SPP1,SPP1,SPP1;FC=Synonymous_A223A,Synonymous_A250A,Synonymous_A236A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,80:167:99:2272,0,2351:56:99:0.479 chr4 88928988 . G A 68.03 LowDP BaseQRankSum=0.956;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.956;QD=8.50;ReadPosRankSum=-0.684;SB=-34.63;TI=NM_000297;GI=PKD2;FC=Missense_A35T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,3:8:98.02:98,0,136:52:68:0.375 chr4 88928989 . C A 68.03 LowDP BaseQRankSum=0.322;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.684;QD=8.50;ReadPosRankSum=-0.322;SB=-34.63;TI=NM_000297;GI=PKD2;FC=Missense_A35D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,3:8:98.02:98,0,138:52:68:0.375 chr4 89052323 rs2231142 G T 2121.31 PASS BaseQRankSum=1.425;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=54;MQ0=0;MQRankSum=1.932;QD=12.78;ReadPosRankSum=0.446;SB=-1410.80;TI=NM_004827;GI=ABCG2;FC=Missense_Q141K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,85:166:99:2151,0,1806:54:99:0.512 chr4 95212070 . C CT 1211.96 PASS BaseQRankSum=-1.097;DP=99;FS=1.660;HRun=2;HaplotypeScore=52.8482;MQ=57;MQ0=0;MQRankSum=0.908;QD=12.24;ReadPosRankSum=0.040;SB=-518.48;TI=NM_001128430,NM_001128429,NM_020159;GI=SMARCAD1,SMARCAD1,SMARCAD1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,38:99:99:1251,0,2142:57:99:0.388 chr4 95506842 rs11097431 G A 3353.23 PASS BaseQRankSum=0.097;DP=298;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0973;MQ=52;MQ0=0;MQRankSum=0.784;QD=11.25;ReadPosRankSum=0.151;SB=-2059.79;TI=NM_001011515,NM_001011516,NM_001011513,NR_024179,NM_006457;GI=PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5;FC=Synonymous_Q176Q,Synonymous_Q156Q,Synonymous_Q170Q,Silent,Synonymous_Q279Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:153,145:298:99:3353,0,3452:52:99:0.487 chr4 95508130 . A T 25.75 SB BaseQRankSum=-2.025;DP=29;Dels=0.00;FS=12.884;HRun=3;HaplotypeScore=20.4484;MQ=46;MQ0=0;MQRankSum=0.220;QD=0.89;ReadPosRankSum=-0.317;SB=-0.01;TI=NM_001011515,NM_001011516,NM_001011513,NR_024179,NM_006457;GI=PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,8:29:55.73:56,0,431:46:26:0.276 chr4 95531417 rs10017461 A G 1999.90 PASS DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.25;SB=-724.89;TI=NM_001011513,NR_024179,NM_006457;GI=PDLIM5,PDLIM5,PDLIM5;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:2033,150,0:56:99:1.000 chr4 95539267 rs966845 G A 5051.01 PASS DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=49;MQ0=0;QD=25.90;SB=-3479.19;TI=NM_001011513,NR_024179,NM_006457;GI=PDLIM5,PDLIM5,PDLIM5;FC=Missense_A236T,Silent,Missense_A345T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,195:195:99:5051,355,0:49:99:1.000 chr4 95561459 rs7690296 A G 2503.90 PASS BaseQRankSum=-0.155;DP=211;Dels=0.00;FS=0.510;HRun=0;HaplotypeScore=9.3423;MQ=50;MQ0=0;MQRankSum=0.850;QD=11.87;ReadPosRankSum=0.430;SB=-1645.78;TI=NM_001011513,NR_024179,NM_006457;GI=PDLIM5,PDLIM5,PDLIM5;FC=Missense_T272A,Silent,Missense_T381A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,110:211:99:2534,0,2526:50:99:0.521 chr4 95578588 rs13107595 G A 1591.90 PASS DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=26.10;SB=-1165.51;TI=NM_001011513,NR_024179,NM_006457;GI=PDLIM5,PDLIM5,PDLIM5;FC=Missense_S383N,Silent,Missense_S492N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1625,114,0:57:99:1.000 chr4 95585225 rs1056772 A G 179.27 PASS BaseQRankSum=0.304;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=-0.304;QD=8.96;ReadPosRankSum=-0.836;SB=-130.57;TI=NM_001011513,NR_024179,NM_006457;GI=PDLIM5,PDLIM5,PDLIM5;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,9:20:99:209,0,262:55:99:0.450 chr4 96106322 rs2289043 A G 3641.02 PASS DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=29.60;SB=-2016.83;TI=NM_003728;GI=UNC5C;FC=Missense_M721T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:3641,262,0:54:99:1.000 chr4 96123981 rs3733212 C T 3809.25 PASS DP=125;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.5436;MQ=58;MQ0=0;QD=30.47;SB=-2108.25;TI=NM_003728;GI=UNC5C;FC=Synonymous_A679A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3809,277,0:58:99:1.000 chr4 96127869 rs2276322 T G 4476.99 PASS BaseQRankSum=1.692;DP=173;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=8.8717;MQ=52;MQ0=0;MQRankSum=0.350;QD=25.88;ReadPosRankSum=0.851;SB=-3276.42;TI=NM_003728;GI=UNC5C;FC=Synonymous_P604P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,172:173:99:4477,322,0:52:99:0.994 chr4 96166270 rs35120448 C T 2578.78 PASS BaseQRankSum=1.225;DP=197;Dels=0.00;FS=0.529;HRun=0;HaplotypeScore=3.5215;MQ=55;MQ0=0;MQRankSum=3.148;QD=13.09;ReadPosRankSum=0.624;SB=-1874.34;TI=NM_003728;GI=UNC5C;FC=Synonymous_T267T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,112:197:99:2609,0,1989:55:99:0.569 chr4 96256616 rs4699423 A G 1256.78 PASS BaseQRankSum=2.019;DP=127;Dels=0.00;FS=0.687;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=3.858;QD=9.90;ReadPosRankSum=0.829;SB=-606.27;TI=NM_003728;GI=UNC5C;FC=Synonymous_S97S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,51:127:99:1287,0,1861:55:99:0.402 chr4 96256673 rs1843018 G A 3464.69 PASS BaseQRankSum=0.340;DP=112;Dels=0.00;FS=3.254;HRun=0;HaplotypeScore=4.5487;MQ=58;MQ0=0;MQRankSum=0.526;QD=30.93;ReadPosRankSum=-0.031;SB=-2036.80;TI=NM_003728;GI=UNC5C;FC=Synonymous_P78P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,111:112:99:3465,221,0:58:99:0.991 chr4 99850126 rs11723037 A G 1795.44 PASS BaseQRankSum=1.229;DP=134;Dels=0.00;FS=2.212;HRun=4;HaplotypeScore=8.8586;MQ=53;MQ0=0;MQRankSum=3.295;QD=13.40;ReadPosRankSum=-1.015;SB=-1180.00;TI=NM_001130678,NM_001130679,NM_001968;GI=EIF4E,EIF4E,EIF4E;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,72:134:99:1825,0,1523:53:99:0.537 chr4 100045616 rs1126673 C T 2026.30 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.95;SB=-1389.80;TI=NM_000670;GI=ADH4;FC=Missense_V374I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,70:70:99:2059,147,0:55:99:1.000 chr4 100048414 rs1126671 T C 2348.92 PASS DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;QD=27.00;SB=-1613.59;TI=NM_000670;GI=ADH4;FC=Missense_I309V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2382,172,0:50:99:1.000 chr4 100048506 rs6836440 G A 1254.52 PASS DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.27;SB=-783.81;TI=NM_000670;GI=ADH4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:93.30:1288,93,0:53:93:1.000 chr4 100052733 rs1126670 C A 3930.66 PASS DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=30.71;SB=-2031.85;TI=NM_000670;GI=ADH4;FC=Synonymous_P255P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:128:99:3931,286,0:54:99:1.000 chr4 100057718 . TA T 2484.33 PASS BaseQRankSum=0.205;DP=125;FS=0.664;HRun=1;HaplotypeScore=49.8786;MQ=55;MQ0=0;MQRankSum=1.632;QD=19.87;ReadPosRankSum=0.709;SB=-1222.05;TI=NM_000670;GI=ADH4;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,64:125:99:2523,0,2355:55:99:0.512 chr4 100062819 rs2032349 A G 1820.72 PASS DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7861;MQ=52;MQ0=0;QD=28.90;SB=-1156.87;TI=NM_000670;GI=ADH4;FC=Synonymous_S45S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1854,135,0:52:99:1.000 chr4 100235053 rs1789882 A G 3879.42 PASS DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.2936;MQ=48;MQ0=13;QD=26.94;SB=-1591.18;TI=NM_000668;GI=ADH1B;FC=Synonymous_I251I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:8,136:144:99:3879,283,0:48:99:0.944 chr4 100239319 rs1229984 T C 1594.41 PASS DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=29.53;SB=-836.91;TI=NM_000668;GI=ADH1B;FC=Missense_H48R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1627,120,0:56:99:1.000 chr4 100266133 rs2241894 T C 2067.36 PASS BaseQRankSum=-0.727;DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7829;MQ=54;MQ0=2;MQRankSum=1.835;QD=12.76;ReadPosRankSum=-0.356;SB=-1361.24;TI=NM_000669;GI=ADH1C;FC=Synonymous_T151T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,92:162:99:2097,0,1743:54:99:0.568 chr4 100268190 rs283413 A C 1753.51 PASS DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=30.23;SB=-885.54;TI=NM_000669;GI=ADH1C;FC=Missense_X78G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1787,132,0:54:99:1.000 chr4 100504664 rs3816873 T C 916.42 PASS BaseQRankSum=0.066;DP=69;Dels=0.00;FS=1.998;HRun=2;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.150;QD=13.28;ReadPosRankSum=0.643;SB=-467.50;TI=NM_000253;GI=MTTP;FC=Missense_I128T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,36:69:99:946,0,813:54:99:0.522 chr4 102751276 rs10516486 C T 1860.03 PASS BaseQRankSum=0.668;DP=151;Dels=0.00;FS=1.302;HRun=1;HaplotypeScore=2.8886;MQ=53;MQ0=0;MQRankSum=1.182;QD=12.32;ReadPosRankSum=1.156;SB=-1004.36;TI=NM_001127507,NM_017935,NM_001083907;GI=BANK1,BANK1,BANK1;FC=Silent,Synonymous_L128L,Synonymous_L98L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,73:151:99:1890,0,1942:53:99:0.483 chr4 102816467 rs62321738 C G 897.09 PASS BaseQRankSum=1.306;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5759;MQ=58;MQ0=0;MQRankSum=1.810;QD=14.24;ReadPosRankSum=-0.844;SB=-207.13;TI=NM_001127507,NM_017935,NM_001083907;GI=BANK1,BANK1,BANK1;FC=Missense_S170R,Missense_S303R,Missense_S273R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,31:63:99:927,0,822:58:99:0.508 chr4 102946347 rs2035604 A G 135.71 LowDP BaseQRankSum=-1.200;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-0.935;QD=10.44;ReadPosRankSum=-0.101;SB=-40.65;TI=NM_001127507,NM_017935,NM_001083907;GI=BANK1,BANK1,BANK1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,7:13:99:166,0,200:56:99:0.538 chr4 102965043 rs3113676 T C 3770.08 PASS DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.72;SB=-2556.03;TI=NM_001127507,NM_017935,NM_001083907;GI=BANK1,BANK1,BANK1;FC=Missense_C517R,Missense_C650R,Missense_C620R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,136:136:99:3770,268,0:54:99:1.000 chr4 103514658 rs1609993 T C 1929.58 PASS DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=52;MQ0=0;QD=28.38;SB=-1340.65;TI=NM_003998,NM_001165412;GI=NFKB1,NFKB1;FC=Synonymous_A381A,Synonymous_A380A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:1963,141,0:52:99:1.000 chr4 103553447 rs10719111 GA G 385.03 R8 BaseQRankSum=-1.196;DP=55;FS=0.000;HRun=11;HaplotypeScore=117.3901;MQ=57;MQ0=0;MQRankSum=0.909;QD=7.00;ReadPosRankSum=-0.871;SB=-44.05;TI=NM_005908;GI=MANBA;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,19:55:99:424,0,654:57:99:0.358 chr4 103555992 rs2272697 A G 946.35 PASS BaseQRankSum=1.486;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1248;MQ=54;MQ0=0;MQRankSum=1.513;QD=9.28;ReadPosRankSum=-0.187;SB=-513.59;TI=NM_005908;GI=MANBA;FC=Synonymous_L790L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,42:102:99:976,0,1447:54:99:0.412 chr4 103557077 rs2866413 G A 1186.70 PASS BaseQRankSum=-0.101;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=3.029;QD=13.96;ReadPosRankSum=1.715;SB=-709.19;TI=NM_005908;GI=MANBA;FC=Missense_T701M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,46:85:99:1217,0,992:55:99:0.541 chr4 103611845 rs227368 C T 599.27 PASS BaseQRankSum=-0.213;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=57;MQ0=0;MQRankSum=1.820;QD=10.70;ReadPosRankSum=1.312;SB=-417.26;TI=NM_005908;GI=MANBA;FC=Missense_V253I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,29:56:99:629,0,683:57:99:0.518 chr4 103645082 rs6857760 C T 1976.50 PASS BaseQRankSum=1.443;DP=183;Dels=0.00;FS=1.886;HRun=0;HaplotypeScore=7.3755;MQ=56;MQ0=0;MQRankSum=2.270;QD=10.80;ReadPosRankSum=0.876;SB=-1147.29;TI=NM_005908;GI=MANBA;FC=Synonymous_T105T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,78:183:99:2006,0,2870:56:99:0.426 chr4 107845794 rs17037102 C T 2732.54 PASS BaseQRankSum=-0.079;DP=228;Dels=0.00;FS=2.253;HRun=0;HaplotypeScore=5.5758;MQ=52;MQ0=0;MQRankSum=-1.597;QD=11.98;ReadPosRankSum=-4.182;SB=-1995.67;TI=NM_014421;GI=DKK2;FC=Missense_R146Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,123:228:99:2763,0,2520:52:99:0.539 chr4 108931039 rs4956145 T C 1549.21 PASS DP=58;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=52;MQ0=0;QD=26.71;SB=-1013.72;TI=NM_001184705,NM_005327;GI=HADH,HADH;FC=Missense_L86P,Missense_L86P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1582,117,0:52:99:1.000 chr4 109669319 . TA T 900.12 R8 BaseQRankSum=0.731;DP=82;FS=0.000;HRun=12;HaplotypeScore=117.4402;MQ=55;MQ0=0;MQRankSum=0.590;QD=10.98;ReadPosRankSum=1.435;SB=-201.69;TI=NR_027475,NM_031279,NM_001146590,NM_001146627,NR_027474;GI=AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,36:81:99:939,0,328:55:99:0.537 chr4 109674116 rs1377210 A G 1665.37 PASS BaseQRankSum=2.533;DP=143;Dels=0.00;FS=5.151;HRun=1;HaplotypeScore=2.6548;MQ=56;MQ0=0;MQRankSum=0.476;QD=11.65;ReadPosRankSum=0.314;SB=-819.53;TI=NR_027475,NM_031279,NM_001146590,NM_001146627,NR_027474;GI=AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1;FC=Silent,Missense_S185P,Missense_S179P,Missense_S213P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,66:143:99:1695,0,2081:56:99:0.462 chr4 109745336 rs7689008 T G 1172.14 PASS BaseQRankSum=0.338;DP=111;Dels=0.00;FS=1.562;HRun=0;HaplotypeScore=6.4697;MQ=53;MQ0=0;MQRankSum=0.109;QD=10.56;ReadPosRankSum=-1.353;SB=-745.59;TI=NM_198721,NM_032518;GI=COL25A1,COL25A1;FC=Synonymous_G613G,Synonymous_G613G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,47:111:99:1202,0,1534:53:99:0.427 chr4 109841743 rs17596705 C T 655.55 PASS BaseQRankSum=2.520;DP=79;Dels=0.00;FS=1.874;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-0.701;QD=8.30;ReadPosRankSum=0.681;SB=-525.47;TI=NM_198721,NM_032518;GI=COL25A1,COL25A1;FC=Synonymous_P242P,Synonymous_P242P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,33:79:99:686,0,1058:53:99:0.418 chr4 109863370 rs17531474 C T 733.09 PASS BaseQRankSum=0.690;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;MQRankSum=-3.402;QD=9.40;ReadPosRankSum=0.340;SB=-588.04;TI=NM_198721,NM_032518;GI=COL25A1,COL25A1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,37:78:99:763,0,973:50:99:0.474 chr4 109895718 . GA G 1180.09 PASS BaseQRankSum=0.516;DP=75;FS=1.943;HRun=7;HaplotypeScore=32.6330;MQ=53;MQ0=0;MQRankSum=-0.782;QD=15.73;ReadPosRankSum=0.452;SB=-511.79;TI=NM_198721,NM_032518;GI=COL25A1,COL25A1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,41:75:99:1219,0,930:53:99:0.547 chr4 110678925 rs11098044 T C 3131.11 PASS DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5436;MQ=35;MQ0=0;QD=31.95;SB=-1446.32;TI=NM_000204;GI=CFI;FC=Missense_T300A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:98:99:3164,274,0:35:99:1.000 chr4 110757158 . A G 549.23 PASS BaseQRankSum=-0.465;DP=39;Dels=0.00;FS=4.657;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=1.761;QD=14.08;ReadPosRankSum=0.380;SB=-235.73;TI=NM_006583;GI=RRH;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,21:39:99:579,0,393:58:99:0.538 chr4 110758769 rs4698795 A G 444.14 PASS BaseQRankSum=-0.323;DP=39;Dels=0.00;FS=1.360;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-0.407;QD=11.39;ReadPosRankSum=0.801;SB=-159.55;TI=NM_006583;GI=RRH;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,19:39:99:474,0,552:57:99:0.487 chr4 110765361 rs7681770 T G 3881.91 PASS DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9786;MQ=56;MQ0=0;QD=30.81;SB=-1753.91;TI=NM_006583;GI=RRH;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:3882,283,0:56:99:1.000 chr4 110866442 rs4698756 G A 846.24 PASS BaseQRankSum=0.078;DP=76;Dels=0.00;FS=0.919;HRun=0;HaplotypeScore=2.9993;MQ=54;MQ0=0;MQRankSum=-1.273;QD=11.13;ReadPosRankSum=-1.834;SB=-477.22;TI=NM_001178130,NM_001178131,NM_001963;GI=EGF,EGF,EGF;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,38:76:99:876,0,976:54:99:0.500 chr4 110883121 rs11568943 G A 978.66 PASS BaseQRankSum=2.971;DP=95;Dels=0.00;FS=1.695;HRun=1;HaplotypeScore=6.3478;MQ=55;MQ0=0;MQRankSum=3.518;QD=10.30;ReadPosRankSum=1.982;SB=-550.39;TI=NM_001178130,NM_001178131,NM_001963;GI=EGF,EGF,EGF;FC=Missense_R431K,Missense_R389K,Missense_R431K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,42:95:99:1009,0,1340:55:99:0.442 chr4 110897315 rs11568993 C T 1389.30 PASS BaseQRankSum=2.790;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8937;MQ=53;MQ0=0;MQRankSum=-0.540;QD=12.52;ReadPosRankSum=0.381;SB=-875.19;TI=NM_001178130,NM_001178131,NM_001963;GI=EGF,EGF,EGF;FC=Synonymous_C659C,Synonymous_C617C,Synonymous_C659C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,58:111:99:1419,0,1327:53:99:0.523 chr4 110901198 rs2237051 G A 2789.31 PASS DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.62;SB=-1586.76;TI=NM_001178130,NM_001178131,NM_001963;GI=EGF,EGF,EGF;FC=Missense_M708I,Missense_M666I,Missense_M708I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2822,202,0:54:99:1.000 chr4 110902111 rs11569017 A T 893.29 PASS BaseQRankSum=0.699;DP=71;Dels=0.00;FS=3.329;HRun=1;HaplotypeScore=2.6823;MQ=52;MQ0=0;MQRankSum=-1.485;QD=12.58;ReadPosRankSum=0.595;SB=-500.16;TI=NM_001178130,NM_001178131,NM_001963;GI=EGF,EGF,EGF;FC=Missense_D784V,Missense_D742V,Missense_D784V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,39:71:99:923,0,752:52:99:0.549 chr4 110914427 rs4698803 A T 2678.79 PASS DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=53;MQ0=0;QD=25.51;SB=-1663.65;TI=NM_001178130,NM_001178131,NM_001963;GI=EGF,EGF,EGF;FC=Silent,Missense_E878V,Missense_E920V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:2712,193,0:53:99:1.000 chr4 114257201 rs3736575 C T 517.39 PASS BaseQRankSum=-2.009;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=0.889;QD=12.03;ReadPosRankSum=-0.718;SB=-237.53;TI=NM_001127493,NM_001148,NM_020977;GI=ANK2,ANK2,ANK2;FC=Synonymous_R1184R,Synonymous_R1193R,Synonymous_R1193R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,23:43:99:547,0,497:56:99:0.535 chr4 114276884 rs3733615 A G 2325.76 PASS BaseQRankSum=3.551;DP=188;Dels=0.00;FS=1.138;HRun=1;HaplotypeScore=4.5405;MQ=54;MQ0=0;MQRankSum=0.941;QD=12.37;ReadPosRankSum=0.107;SB=-1501.28;TI=NM_001127493,NM_001148,NM_020977;GI=ANK2,ANK2,ANK2;FC=Silent,Synonymous_Q2370Q,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,91:188:99:2356,0,2480:54:99:0.484 chr4 114278277 rs3733617 C T 2858.95 PASS BaseQRankSum=3.010;DP=245;Dels=0.00;FS=2.422;HRun=1;HaplotypeScore=20.0371;MQ=56;MQ0=0;MQRankSum=3.339;QD=11.67;ReadPosRankSum=-0.532;SB=-1178.37;TI=NM_001127493,NM_001148,NM_020977;GI=ANK2,ANK2,ANK2;FC=Silent,Missense_P2835S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,109:245:99:2889,0,3692:56:99:0.445 chr4 114294308 rs2293324 T C 2205.50 PASS BaseQRankSum=0.395;DP=166;Dels=0.00;FS=4.589;HRun=0;HaplotypeScore=5.3880;MQ=52;MQ0=0;MQRankSum=2.979;QD=13.29;ReadPosRankSum=2.788;SB=-1252.00;TI=NM_001127493,NM_001148,NM_020977;GI=ANK2,ANK2,ANK2;FC=Synonymous_H1797H,Synonymous_H3891H,Synonymous_H1806H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,89:166:99:2235,0,1833:52:99:0.536 chr4 119237348 rs2292597 T C 2088.77 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=56;MQ0=0;QD=27.13;SB=-1392.59;TI=NM_003619;GI=PRSS12;FC=Synonymous_Q427Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2122,150,0:56:99:1.000 chr4 119273712 rs13119545 C G 1041.50 PASS BaseQRankSum=1.320;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=58;MQ0=0;MQRankSum=1.650;QD=24.80;ReadPosRankSum=1.650;SB=-721.81;TI=NM_003619;GI=PRSS12;FC=Missense_R55T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,41:42:47.83:1075,48,0:58:48:0.976 chr4 120240802 . CATA C 1050.66 R8 BaseQRankSum=-0.494;DP=79;FS=4.492;HRun=0;HaplotypeScore=55.2994;MQ=54;MQ0=0;MQRankSum=-0.183;QD=13.30;ReadPosRankSum=-1.795;SB=-211.25;TI=NM_000134;GI=FABP2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,23:79:99:1090,0,1144:54:99:0.315 chr4 120241902 rs1799883 T C 2037.52 PASS BaseQRankSum=3.232;DP=165;Dels=0.00;FS=0.578;HRun=0;HaplotypeScore=2.7880;MQ=57;MQ0=0;MQRankSum=0.145;QD=12.35;ReadPosRankSum=-0.670;SB=-1269.33;TI=NM_000134;GI=FABP2;FC=Missense_T55A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,84:165:99:2068,0,2012:57:99:0.509 chr4 120983259 rs2908989 T C 2239.36 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=27.65;SB=-1520.69;TI=NM_002358;GI=MAD2L1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2272,163,0:56:99:1.000 chr4 122590883 rs71599153 T TA 423.55 R8 BaseQRankSum=1.268;DP=84;FS=16.826;HRun=15;HaplotypeScore=442.6292;MQ=47;MQ0=0;MQRankSum=0.682;QD=5.04;ReadPosRankSum=0.761;SB=-246.33;TI=NM_001154;GI=ANXA5;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,23:84:99:463,0,420:47:99:0.390 chr4 122741807 rs769243 C T 1734.92 PASS BaseQRankSum=1.360;DP=137;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=0.640;QD=12.66;ReadPosRankSum=-1.532;SB=-1175.97;TI=NM_001237;GI=CCNA2;FC=Synonymous_Q228Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,72:137:99:1765,0,1676:55:99:0.526 chr4 122742217 rs769242 T C 4956.70 PASS DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6706;MQ=48;MQ0=0;QD=27.54;SB=-2908.35;TI=NM_001237;GI=CCNA2;FC=Missense_I163V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,179:180:99:4957,352,0:48:99:1.000 chr4 122824052 rs11732666 C T 2092.81 PASS BaseQRankSum=2.184;DP=131;Dels=0.00;FS=2.483;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=0.361;QD=15.98;ReadPosRankSum=0.458;SB=-883.22;TI=NM_003305,NM_001130698;GI=TRPC3,TRPC3;FC=Synonymous_R733R,Synonymous_R806R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,75:131:99:2123,0,1547:55:99:0.573 chr4 123377482 rs2069763 C A 2050.82 PASS BaseQRankSum=-0.291;DP=169;Dels=0.00;FS=1.980;HRun=1;HaplotypeScore=9.1522;MQ=56;MQ0=0;MQRankSum=3.287;QD=12.14;ReadPosRankSum=0.656;SB=-1162.51;TI=NM_000586;GI=IL2;FC=Synonymous_L38L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,85:169:99:2081,0,2199:56:99:0.503 chr4 123536963 rs4833837 G A 2734.20 PASS BaseQRankSum=0.199;DP=197;Dels=0.00;FS=0.546;HRun=3;HaplotypeScore=2.6766;MQ=56;MQ0=0;MQRankSum=0.212;QD=13.88;ReadPosRankSum=-0.345;SB=-1257.57;TI=NM_021803;GI=IL21;FC=Synonymous_C78C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,106:197:99:2764,0,2328:56:99:0.538 chr4 123664204 rs309370 G A 4891.74 PASS BaseQRankSum=1.855;DP=356;Dels=0.00;FS=6.242;HRun=0;HaplotypeScore=9.2230;MQ=56;MQ0=0;MQRankSum=1.538;QD=13.74;ReadPosRankSum=0.040;SB=-2359.14;TI=NM_001178007,NM_152618;GI=BBS12,BBS12;FC=Missense_R386Q,Missense_R386Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:177,179:356:99:4892,0,4732:56:99:0.503 chr4 123664445 rs2292493 C T 2114.25 PASS BaseQRankSum=3.141;DP=193;Dels=0.00;FS=1.175;HRun=0;HaplotypeScore=10.0273;MQ=58;MQ0=0;MQRankSum=3.229;QD=10.95;ReadPosRankSum=-0.640;SB=-958.68;TI=NM_001178007,NM_152618;GI=BBS12,BBS12;FC=Synonymous_G466G,Synonymous_G466G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:115,76:193:99:2144,0,3260:58:99:0.398 chr4 123748086 rs1449683 C T 310.49 PASS BaseQRankSum=0.460;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-0.328;QD=14.11;ReadPosRankSum=-1.116;SB=-34.63;TI=NM_002006;GI=FGF2;FC=Synonymous_S52S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,11:22:99:340,0,303:58:99:0.500 chr4 123748186 . C G 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_002006;GI=FGF2;FC=Missense_R86G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chr4 123748201 . G A 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_002006;GI=FGF2;FC=Missense_G91R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chr4 123838758 rs12648093 A G 5166.60 PASS DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.3733;MQ=54;MQ0=0;QD=30.04;SB=-2956.48;TI=NM_007083,NM_198041;GI=NUDT6,NUDT6;FC=Missense_C114R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,171:172:99:5167,373,0:54:99:1.000 chr4 123843716 rs13134412 T C 5534.89 PASS DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7521;MQ=56;MQ0=0;QD=28.38;SB=-3192.10;TI=NM_007083,NM_198041;GI=NUDT6,NUDT6;FC=Synonymous_P4P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,194:195:99:5535,397,0:56:99:1.000 chr4 135121066 rs11099273 T G 1223.74 PASS BaseQRankSum=0.130;DP=92;Dels=0.00;FS=0.810;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.028;QD=13.30;ReadPosRankSum=1.209;SB=-732.85;TI=NM_001114734;GI=PABPC4L;FC=Missense_H428P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,52:92:99:1254,0,917:53:99:0.565 chr4 135121368 rs2044116 G T 1664.83 PASS BaseQRankSum=1.885;DP=132;Dels=0.00;FS=2.250;HRun=0;HaplotypeScore=5.6538;MQ=58;MQ0=0;MQRankSum=2.875;QD=12.61;ReadPosRankSum=0.569;SB=-905.19;TI=NM_001114734;GI=PABPC4L;FC=Synonymous_V327V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,56:132:99:1695,0,2128:58:99:0.424 chr4 135121601 rs10009368 C T 3047.03 PASS BaseQRankSum=0.827;DP=203;Dels=0.00;FS=3.210;HRun=0;HaplotypeScore=9.0026;MQ=58;MQ0=0;MQRankSum=2.016;QD=15.01;ReadPosRankSum=-0.174;SB=-1909.48;TI=NM_001114734;GI=PABPC4L;FC=Missense_V250I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,114:203:99:3077,0,2287:58:99:0.564 chr4 138449683 rs10018837 A G 4556.59 PASS BaseQRankSum=1.686;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=55;MQ0=0;MQRankSum=0.723;QD=30.18;ReadPosRankSum=-1.640;SB=-2615.44;TI=NM_019035;GI=PCDH18;FC=Synonymous_L897L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,150:151:99:4557,331,0:55:99:0.993 chr4 144618610 rs1034494 G C 3583.63 PASS DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4430;MQ=57;MQ0=0;QD=32.00;SB=-1873.96;TI=NM_001168235;GI=FREM3;FC=Missense_F1073L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:3584,262,0:57:99:1.000 chr4 144801662 rs28721877;rs71620737 C G,T 7245.84 PASS DP=289;Dels=0.00;FS=0.000;HaplotypeScore=5.4283;MQ=51;MQ0=16;QD=25.07;SB=-4596.22;TI=NM_198682,NM_002102;GI=GYPE,GYPE;FC=Unknown_13,Unknown_13;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:0,97,192:289:99:7246,5050,4882,2196,0,1804:51:99:1.000 chr4 144801671 rs71612487 A C 1721.89 PASS BaseQRankSum=2.687;DP=292;Dels=0.00;FS=2.903;HRun=0;HaplotypeScore=9.0046;MQ=51;MQ0=16;MQRankSum=-6.245;QD=5.90;ReadPosRankSum=1.463;SB=-1166.08;TI=NM_198682,NM_002102;GI=GYPE,GYPE;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:197,94:292:99:1752,0,4867:51:99:0.323 chr4 145041686 rs4867;rs17849972;rs71620736 A G 431.20 SB;LowDP DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=35;MQ0=5;QD=22.69;SB=-0.01;TI=NM_002099;GI=GYPA;FC=Synonymous_T31T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:19:36.11:464,36,0:35:36:1.000 chr4 145041707 rs7658293;rs79675765 C A 418.25 PASS DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=31;MQ0=6;QD=20.91;SB=-100.29;TI=NM_002099;GI=GYPA;FC=Missense_E24D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,19:20:36.11:451,36,0:31:36:0.950 chr4 145041708 rs7687256;rs74855447 T C 463.53 PASS DP=22;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=31;MQ0=6;QD=21.07;SB=-66.87;TI=NM_002099;GI=GYPA;FC=Missense_E24G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,21:22:39.12:497,39,0:31:39:0.955 chr4 145041720 rs7682260;rs71612486 A G 605.24 PASS DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=30;MQ0=10;QD=19.52;SB=-294.21;TI=NM_002099;GI=GYPA;FC=Missense_L20S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,30:31:51.15:638,51,0:30:51:0.968 chr4 145041741 rs4449373;rs71620737;rs79488525 T G 863.84 PASS BaseQRankSum=0.915;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=35;MQ0=16;MQRankSum=2.013;QD=17.28;ReadPosRankSum=1.281;SB=-503.49;TI=NM_002099;GI=GYPA;FC=Unknown_13;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:8,42:50:31.73:897,32,0:35:32:0.840 chr4 145041750 rs45468202;rs71612487 A C 1175.94 PASS BaseQRankSum=0.079;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37;MQ0=17;MQRankSum=2.135;QD=18.37;ReadPosRankSum=0.237;SB=-751.52;TI=NM_002099;GI=GYPA;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:9,55:64:52.80:1209,53,0:37:53:0.859 chr4 146567172 . G A 993.93 PASS BaseQRankSum=1.130;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=2.776;QD=12.12;ReadPosRankSum=1.167;SB=-608.21;TI=NM_172250;GI=MMAA;FC=Synonymous_E199E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,38:82:99:1024,0,1091:52:99:0.463 chr4 146572227 rs11721553 G A 1530.71 PASS BaseQRankSum=-0.986;DP=128;Dels=0.00;FS=1.515;HRun=0;HaplotypeScore=5.6590;MQ=56;MQ0=0;MQRankSum=-0.141;QD=11.96;ReadPosRankSum=-1.024;SB=-590.08;TI=NM_172250;GI=MMAA;FC=Synonymous_S249S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,60:128:99:1561,0,1841:56:99:0.469 chr4 148461037 rs5333 T C 1292.66 PASS BaseQRankSum=0.437;DP=112;Dels=0.00;FS=0.720;HRun=0;HaplotypeScore=7.4538;MQ=51;MQ0=0;MQRankSum=2.247;QD=11.54;ReadPosRankSum=1.036;SB=-807.89;TI=NM_001166055,NR_028596,NM_001957;GI=EDNRA,EDNRA,EDNRA;FC=Synonymous_H214H,Silent,Synonymous_H323H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,57:112:99:1323,0,1240:51:99:0.509 chr4 148461073 rs5334 G A 707.12 PASS BaseQRankSum=-0.572;DP=72;Dels=0.00;FS=1.992;HRun=1;HaplotypeScore=5.6797;MQ=53;MQ0=0;MQRankSum=1.150;QD=9.82;ReadPosRankSum=2.374;SB=-406.58;TI=NM_001166055,NR_028596,NM_001957;GI=EDNRA,EDNRA,EDNRA;FC=Synonymous_E226E,Silent,Synonymous_E335E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,32:72:99:737,0,1002:53:99:0.444 chr4 148589682 . A T 682.66 PASS BaseQRankSum=0.528;DP=85;Dels=0.00;FS=3.025;HRun=1;HaplotypeScore=1.9992;MQ=53;MQ0=0;MQRankSum=-0.221;QD=8.03;ReadPosRankSum=2.809;SB=-453.55;TI=NM_138364;GI=PRMT10;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,33:85:99:713,0,1346:53:99:0.388 chr4 149075964 . C G 29.52 SB;LowDP BaseQRankSum=-2.496;DP=18;Dels=0.00;FS=2.846;HRun=5;HaplotypeScore=12.2111;MQ=52;MQ0=0;MQRankSum=-1.858;QD=1.64;ReadPosRankSum=0.478;SB=-0.01;TI=NM_001166104,NM_000901;GI=NR3C2,NR3C2;FC=Silent,Synonymous_P701P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,4:18:59.51:60,0,446:52:30:0.222 chr4 149075970 . T G 11.91 SB;LowDP BaseQRankSum=-1.221;DP=19;Dels=0.05;FS=2.769;HRun=5;HaplotypeScore=18.4449;MQ=50;MQ0=0;MQRankSum=-0.159;QD=0.63;ReadPosRankSum=0.478;SB=-0.01;TI=NM_001166104,NM_000901;GI=NR3C2,NR3C2;FC=Silent,Synonymous_P699P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,4:18:41.61:42,0,421:50:12:0.222 chr4 149356516 rs5525 A G 2519.30 PASS BaseQRankSum=0.344;DP=223;Dels=0.00;FS=0.510;HRun=0;HaplotypeScore=11.1730;MQ=56;MQ0=0;MQRankSum=3.531;QD=11.30;ReadPosRankSum=-0.202;SB=-1297.46;TI=NM_001166104,NM_000901;GI=NR3C2,NR3C2;FC=Synonymous_D499D,Synonymous_D499D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,99:223:99:2549,0,3449:56:99:0.444 chr4 149357038 . C T 1775.73 PASS BaseQRankSum=2.926;DP=159;Dels=0.00;FS=0.599;HRun=0;HaplotypeScore=12.6570;MQ=52;MQ0=0;MQRankSum=1.628;QD=11.17;ReadPosRankSum=1.590;SB=-1048.53;TI=NM_001166104,NM_000901;GI=NR3C2,NR3C2;FC=Synonymous_P325P,Synonymous_P325P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,72:159:99:1806,0,2170:52:99:0.453 chr4 149357475 rs5522 C T 1957.70 PASS BaseQRankSum=1.524;DP=154;Dels=0.00;FS=0.625;HRun=0;HaplotypeScore=16.3559;MQ=54;MQ0=0;MQRankSum=-0.443;QD=12.71;ReadPosRankSum=-0.593;SB=-912.43;TI=NM_001166104,NM_000901;GI=NR3C2,NR3C2;FC=Missense_V180I,Missense_V180I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,78:154:99:1988,0,2202:54:99:0.510 chr4 149358014 rs2070951 G C 91.63 SB;LowDP BaseQRankSum=0.244;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=58;MQ0=0;MQRankSum=-1.000;QD=7.64;ReadPosRankSum=0.380;SB=-0.01;TI=NM_001166104,NM_000901;GI=NR3C2,NR3C2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,5:12:99:122,0,251:58:92:0.417 chr4 155507590 rs6050 T C 2221.28 PASS BaseQRankSum=0.619;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=30.9310;MQ=54;MQ0=0;MQRankSum=0.077;QD=13.07;ReadPosRankSum=0.358;SB=-1344.23;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Missense_T331A,Missense_T331A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,90:170:99:2251,0,1909:54:99:0.533 chr4 156135676 rs1047214 C T 7893.87 PASS BaseQRankSum=1.718;DP=247;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.2737;MQ=55;MQ0=0;MQRankSum=-1.394;QD=31.96;ReadPosRankSum=0.563;SB=-4663.85;TI=NM_000910;GI=NPY2R;FC=Synonymous_I195I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,245:247:99:7894,584,0:55:99:0.996 chr4 156136027 rs2880415 C T 2094.68 PASS DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=37.41;SB=-651.60;TI=NM_000910;GI=NPY2R;FC=Synonymous_I312I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:2128,166,0:59:99:1.000 chr4 158043559 rs41280501 C T 703.14 PASS BaseQRankSum=1.494;DP=50;Dels=0.00;FS=2.656;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-1.848;QD=14.06;ReadPosRankSum=-3.243;SB=-343.81;TI=NM_001166061,NM_000824,NM_001166060;GI=GLRB,GLRB,GLRB;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,29:50:99:733,0,579:58:99:0.580 chr4 158065038 rs12507409 T C 6376.59 PASS DP=228;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.5220;MQ=54;MQ0=0;QD=27.97;SB=-4335.19;TI=NM_001166061,NM_000824,NM_001166060;GI=GLRB,GLRB,GLRB;FC=Synonymous_T277T,Synonymous_T277T,Synonymous_T277T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,227:228:99:6377,460,0:54:99:1.000 chr4 159601676 rs11559290 C T 1785.15 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9992;MQ=51;MQ0=0;QD=27.89;SB=-1118.07;TI=NM_004453;GI=ETFDH;FC=Missense_T31I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1818,129,0:51:99:1.000 chr4 164246489 rs5578 T G 2317.74 PASS BaseQRankSum=1.085;DP=140;Dels=0.00;FS=7.069;HRun=0;HaplotypeScore=3.7239;MQ=57;MQ0=0;MQRankSum=-0.184;QD=16.56;ReadPosRankSum=0.958;SB=-723.48;TI=NM_000909;GI=NPY1R;FC=Missense_K374T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,82:140:99:2348,0,1715:57:99:0.586 chr4 166300365 . A G 24.86 SB;LowDP BaseQRankSum=0.000;DP=4;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=47;MQ0=0;MQRankSum=-1.026;QD=6.21;ReadPosRankSum=0.000;SB=-0.01;TI=NM_001873;GI=CPE;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:54.84:55,0,55:47:25:0.500 chr4 166929209 . C T 161.94 LowDP BaseQRankSum=0.910;DP=14;Dels=0.00;FS=3.358;HRun=1;HaplotypeScore=0.8667;MQ=56;MQ0=0;MQRankSum=-1.524;QD=11.57;ReadPosRankSum=0.421;SB=-63.69;TI=NM_012464;GI=TLL1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,7:14:99:192,0,231:56:99:0.500 chr4 167012381 rs2654492 G A 1876.43 PASS DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.43;SB=-1385.72;TI=NM_012464;GI=TLL1;FC=Synonymous_L848L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:1909,135,0:53:99:1.000 chr4 167012480 rs2646914 T C 831.67 PASS DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=33.27;SB=-243.24;TI=NM_012464;GI=TLL1;FC=Synonymous_A881A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,25:25:63.21:865,63,0:58:63:1.000 chr4 169432841 rs1806729 G A 2436.16 PASS BaseQRankSum=1.376;DP=214;Dels=0.00;FS=4.776;HRun=4;HaplotypeScore=13.8452;MQ=55;MQ0=0;MQRankSum=2.110;QD=11.38;ReadPosRankSum=2.026;SB=-1702.82;TI=NM_016081,NM_001166108;GI=PALLD,PALLD;FC=Synonymous_K62K,Synonymous_K62K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,103:214:99:2466,0,2600:55:99:0.484 chr4 169433326 . T C 598.05 PASS BaseQRankSum=2.741;DP=57;Dels=0.00;FS=4.015;HRun=0;HaplotypeScore=4.6818;MQ=55;MQ0=0;MQRankSum=-1.033;QD=10.49;ReadPosRankSum=-0.024;SB=-315.55;TI=NM_016081,NM_001166108;GI=PALLD,PALLD;FC=Missense_M224T,Missense_M224T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,23:57:99:628,0,1075:55:99:0.404 chr4 169433327 rs7671781 G A 536.50 PASS BaseQRankSum=0.847;DP=56;Dels=0.00;FS=4.072;HRun=0;HaplotypeScore=4.6818;MQ=55;MQ0=0;MQRankSum=-0.713;QD=9.58;ReadPosRankSum=0.361;SB=-278.52;TI=NM_016081,NM_001166108;GI=PALLD,PALLD;FC=Missense_M224I,Missense_M224I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,22:56:99:566,0,1025:55:99:0.393 chr4 169433333 rs7673220 C T 601.83 PASS BaseQRankSum=0.061;DP=55;Dels=0.00;FS=7.905;HRun=0;HaplotypeScore=4.6818;MQ=54;MQ0=0;MQRankSum=-2.637;QD=10.94;ReadPosRankSum=-0.270;SB=-255.71;TI=NM_016081,NM_001166108;GI=PALLD,PALLD;FC=Synonymous_D226D,Synonymous_D226D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,24:55:99:632,0,934:54:99:0.444 chr4 169799448 rs62333013 A G 2555.90 PASS DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5761;MQ=54;MQ0=0;QD=29.04;SB=-1202.72;TI=NM_016081,NM_001166108,NM_001166109,NM_001166110;GI=PALLD,PALLD,PALLD,PALLD;FC=Silent,Silent,Silent,Missense_S136G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2589,193,0:54:99:1.000 chr4 170428901 rs33933790 C T 714.29 PASS BaseQRankSum=0.898;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=1.791;QD=9.28;ReadPosRankSum=0.877;SB=-425.88;TI=NM_012224,NM_001199399,NM_001199400,NM_001199398,NM_001199397;GI=NEK1,NEK1,NEK1,NEK1,NEK1;FC=Missense_A598T,Missense_A529T,Missense_A554T,Missense_A582T,Missense_A626T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,30:77:99:744,0,1012:52:99:0.395 chr4 170482883 rs56064008 A G 1859.14 PASS BaseQRankSum=3.265;DP=111;Dels=0.00;FS=5.125;HRun=0;HaplotypeScore=6.2586;MQ=54;MQ0=0;MQRankSum=1.551;QD=16.75;ReadPosRankSum=-0.608;SB=-1060.36;TI=NM_012224,NM_001199399,NM_001199400,NM_001199398,NM_001199397;GI=NEK1,NEK1,NEK1,NEK1,NEK1;FC=Synonymous_I382I,Synonymous_I382I,Synonymous_I382I,Synonymous_I382I,Synonymous_I382I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,74:111:99:1889,0,940:54:99:0.673 chr4 170506703 rs55679731 A G 715.70 PASS BaseQRankSum=0.818;DP=50;Dels=0.00;FS=2.612;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-0.350;QD=14.31;ReadPosRankSum=0.584;SB=-237.41;TI=NM_012224,NM_001199399,NM_001199400,NM_001199398,NM_001199397;GI=NEK1,NEK1,NEK1,NEK1,NEK1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,27:50:99:746,0,593:58:99:0.540 chr4 178352679 rs1061814 T G 1581.86 PASS DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=57;MQ0=0;QD=35.15;SB=-603.65;TI=NM_000027,NM_001171988,NR_033655;GI=AGA,AGA,AGA;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,45:45:99:1615,120,0:57:99:1.000 chr4 178359960 rs2228119 G C 2674.40 PASS DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=29.07;SB=-1755.45;TI=NM_000027,NM_001171988,NR_033655;GI=AGA,AGA,AGA;FC=Missense_T149S,Missense_T149S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2707,196,0:57:99:1.000 chr4 183815688 rs4742 A G 1194.70 PASS BaseQRankSum=1.490;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=51;MQ0=0;MQRankSum=-1.419;QD=9.48;ReadPosRankSum=1.505;SB=-770.33;TI=NM_001921,NM_001012732;GI=DCTD,DCTD;FC=Synonymous_V105V,Synonymous_V116V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,50:126:99:1225,0,1696:51:99:0.403 chr4 185340725 rs71591640 GA G 75.41 LowGQ;R8 BaseQRankSum=0.505;DP=21;FS=11.139;HRun=20;HaplotypeScore=74.8987;MQ=40;MQ0=0;MQRankSum=0.361;QD=3.59;ReadPosRankSum=1.804;SB=-30.67;TI=NM_002199;GI=IRF2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,5:21:10.84:114,0,11:40:11:0.333 chr4 185553098 rs2705897 T G 3515.83 PASS DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6770;MQ=54;MQ0=0;QD=30.05;SB=-1614.20;TI=NM_004346,NM_032991;GI=CASP3,CASP3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,117:117:99:3516,259,0:54:99:1.000 chr4 186423637 rs4635850 G A 823.75 PASS BaseQRankSum=-2.028;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.218;QD=14.45;ReadPosRankSum=-0.978;SB=-484.73;TI=NM_001114107,NM_014476;GI=PDLIM3,PDLIM3;FC=Unknown_254,Unknown_302;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,33:57:99:854,0,589:54:99:0.579 chr4 187004074 rs3775291 C T 2509.36 PASS BaseQRankSum=0.467;DP=167;Dels=0.00;FS=0.566;HRun=1;HaplotypeScore=7.4647;MQ=57;MQ0=0;MQRankSum=-0.983;QD=15.03;ReadPosRankSum=-0.082;SB=-1490.00;TI=NM_003265;GI=TLR3;FC=Missense_L412F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,89:167:99:2539,0,2309:57:99:0.533 chr4 187005865 rs73873710 C T 2932.99 PASS BaseQRankSum=1.324;DP=270;Dels=0.00;FS=1.470;HRun=4;HaplotypeScore=15.6045;MQ=53;MQ0=0;MQRankSum=0.917;QD=10.86;ReadPosRankSum=0.148;SB=-2017.47;TI=NM_003265;GI=TLR3;FC=Synonymous_F851F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:146,124:270:99:2963,0,3566:53:99:0.459 chr4 187113041 rs1055138 C G 226.91 PASS BaseQRankSum=1.098;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=52;MQ0=0;MQRankSum=-0.970;QD=6.13;ReadPosRankSum=0.652;SB=-156.33;TI=NM_207352;GI=CYP4V2;FC=Missense_L22V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,13:37:99:257,0,604:52:99:0.351 chr4 187115777 rs62350517 G C 814.75 PASS BaseQRankSum=1.388;DP=47;Dels=0.00;FS=2.034;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=-1.237;QD=17.34;ReadPosRankSum=-0.807;SB=-108.62;TI=NM_207352;GI=CYP4V2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,27:47:99:845,0,635:58:99:0.574 chr4 187122355 rs3736456 T C 751.26 PASS BaseQRankSum=2.712;DP=74;Dels=0.00;FS=1.969;HRun=0;HaplotypeScore=3.7874;MQ=52;MQ0=0;MQRankSum=2.351;QD=10.15;ReadPosRankSum=2.701;SB=-395.95;TI=NM_207352;GI=CYP4V2;FC=Synonymous_C282C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,33:74:99:781,0,916:52:99:0.458 chr4 187158034 rs3733402 G A 1396.68 PASS BaseQRankSum=0.797;DP=137;Dels=0.00;FS=1.355;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.103;QD=10.19;ReadPosRankSum=-1.034;SB=-969.75;TI=NM_000892;GI=KLKB1;FC=Missense_S143N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,63:137:99:1427,0,1662:53:99:0.460 chr4 187178473 rs4253325 G A 665.14 PASS BaseQRankSum=-1.593;DP=77;Dels=0.00;FS=1.970;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;MQRankSum=1.824;QD=8.64;ReadPosRankSum=0.657;SB=-402.90;TI=NM_000892;GI=KLKB1;FC=Missense_R560Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,29:77:99:695,0,1072:50:99:0.377 chr4 187179210 rs925453 T C 585.18 LowGQX;LowGQ BaseQRankSum=-0.857;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.742;QD=26.60;ReadPosRankSum=-1.770;SB=-219.51;TI=NM_000892;GI=KLKB1;FC=Synonymous_N587N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,20:22:6.40:617,6,0:58:6:0.909 chr4 190874234 . C T 478.56 LowVariantFreq BaseQRankSum=1.895;DP=182;Dels=0.00;FS=5.254;HRun=0;HaplotypeScore=19.4257;MQ=40;MQ0=3;MQRankSum=-2.392;QD=2.63;ReadPosRankSum=0.698;SB=-112.96;TI=NM_004477;GI=FRG1;FC=Missense_P91S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:150,32:182:99:509,0,3153:40:99:0.176 chr4 190874255 rs1138717;rs17425201;rs75162394;rs79054915 A T 151.90 LowVariantFreq BaseQRankSum=0.897;DP=166;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=26.6404;MQ=40;MQ0=3;MQRankSum=-0.189;QD=0.92;ReadPosRankSum=1.611;SB=-41.48;TI=NM_004477;GI=FRG1;FC=Missense_T98S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:146,20:166:99:182,0,3534:40:99:0.120 chr4 190874256 rs4608320;rs71244243;rs74684310 C T 794.32 PASS BaseQRankSum=1.497;DP=164;Dels=0.00;FS=4.943;HRun=0;HaplotypeScore=26.6404;MQ=40;MQ0=3;MQRankSum=-4.824;QD=4.84;ReadPosRankSum=3.103;SB=-196.00;TI=NM_004477;GI=FRG1;FC=Missense_T98M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:115,49:164:99:824,0,2865:40:99:0.299 chr4 190874281 . G T 140.22 LowVariantFreq BaseQRankSum=1.389;DP=153;Dels=0.00;FS=2.495;HRun=1;HaplotypeScore=29.8796;MQ=40;MQ0=2;MQRankSum=-1.916;QD=0.92;ReadPosRankSum=-0.278;SB=-77.99;TI=NM_004477;GI=FRG1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:134,19:153:99:170,0,3393:40:99:0.124 chr4 190874290 . T A 259.35 LowVariantFreq BaseQRankSum=3.299;DP=143;Dels=0.00;FS=2.327;HRun=1;HaplotypeScore=28.8813;MQ=40;MQ0=1;MQRankSum=0.742;QD=1.81;ReadPosRankSum=0.683;SB=-126.46;TI=NM_004477;GI=FRG1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,20:143:99:289,0,3059:40:99:0.140 chr4 190876192 rs71223387 A C 6.12 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.373;DP=17;Dels=0.00;FS=10.792;HRun=0;HaplotypeScore=5.8531;MQ=47;MQ0=0;MQRankSum=-0.671;QD=0.36;ReadPosRankSum=-1.267;SB=-0.01;TI=NM_004477;GI=FRG1;FC=Unknown_106;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,2:17:34.90:35,0,455:47:6:0.118 chr4 190876195 rs7684300 C T 235.63 LowDP BaseQRankSum=0.722;DP=17;Dels=0.00;FS=5.119;HRun=1;HaplotypeScore=7.8263;MQ=47;MQ0=0;MQRankSum=-0.914;QD=13.86;ReadPosRankSum=-1.588;SB=-134.74;TI=NM_004477;GI=FRG1;FC=Synonymous_I107I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,9:17:99:266,0,225:47:99:0.529 chr4 190876204 rs3207892;rs35805244 G A 411.24 PASS BaseQRankSum=0.245;DP=23;Dels=0.00;FS=4.738;HRun=2;HaplotypeScore=4.8273;MQ=47;MQ0=0;MQRankSum=-1.015;QD=17.88;ReadPosRankSum=-2.345;SB=-268.03;TI=NM_004477;GI=FRG1;FC=Synonymous_K110K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,17:23:99:441,0,153:47:99:0.739 chr4 190876242 rs1061653 G A 468.22 PASS BaseQRankSum=1.045;DP=29;Dels=0.00;FS=6.805;HRun=1;HaplotypeScore=2.7798;MQ=48;MQ0=0;MQRankSum=-0.892;QD=16.15;ReadPosRankSum=-2.166;SB=-268.46;TI=NM_004477;GI=FRG1;FC=Missense_G123E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,22:29:99:498,0,154:48:99:0.759 chr4 190876256 . C T 4.37 LowGQX;LowVariantFreq BaseQRankSum=0.474;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8871;MQ=48;MQ0=0;MQRankSum=-0.032;QD=0.15;ReadPosRankSum=1.297;SB=-35.54;TI=NM_004477;GI=FRG1;FC=Missense_R128C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,4:29:32.38:32,0,620:48:4:0.138 chr4 190878597 rs62345290;rs73598383 C T 289.94 PASS BaseQRankSum=0.804;DP=28;Dels=0.00;FS=1.643;HRun=0;HaplotypeScore=2.7834;MQ=40;MQ0=3;MQRankSum=-2.136;QD=10.35;ReadPosRankSum=1.026;SB=-99.59;TI=NM_004477;GI=FRG1;FC=Synonymous_C159C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,18:28:99:320,0,261:40:99:0.643 chr4 190878661 rs62345291 A T 176.58 PASS BaseQRankSum=-1.104;DP=31;Dels=0.00;FS=1.748;HRun=1;HaplotypeScore=3.9384;MQ=39;MQ0=6;MQRankSum=-0.255;QD=5.70;ReadPosRankSum=0.142;SB=-47.28;TI=NM_004477;GI=FRG1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,12:31:99:207,0,386:39:99:0.387 chr4 190882973 rs78181874 A G 213.45 PASS BaseQRankSum=-1.256;DP=61;Dels=0.00;FS=5.874;HRun=0;HaplotypeScore=0.8941;MQ=38;MQ0=19;MQRankSum=-5.176;QD=3.50;ReadPosRankSum=4.741;SB=-39.51;TI=NM_004477;GI=FRG1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,36:61:99:243,0,642:38:99:0.590 chr4 190883026 . G T 164.97 LowVariantFreq BaseQRankSum=-0.307;DP=99;Dels=0.00;FS=11.103;HRun=0;HaplotypeScore=1.9157;MQ=33;MQ0=46;MQRankSum=-2.808;QD=1.67;ReadPosRankSum=0.671;SB=-14.69;TI=NM_004477;GI=FRG1;FC=Missense_D227Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,13:99:99:195,0,876:33:99:0.131 chr4 190883051 rs75206851 G A 142.44 PASS BaseQRankSum=-0.014;DP=88;Dels=0.00;FS=11.336;HRun=0;HaplotypeScore=0.8941;MQ=33;MQ0=45;MQRankSum=-4.134;QD=1.62;ReadPosRankSum=-3.465;SB=-18.25;TI=NM_004477;GI=FRG1;FC=Missense_R235Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,56:88:99:172,0,809:33:99:0.636 chr4 190883073 . G A 114.95 LowVariantFreq;SB BaseQRankSum=-0.593;DP=79;Dels=0.00;FS=10.708;HRun=1;HaplotypeScore=5.7875;MQ=36;MQ0=35;MQRankSum=-3.515;QD=1.46;ReadPosRankSum=-1.141;SB=-0.01;TI=NM_004477;GI=FRG1;FC=Synonymous_E242E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,12:79:99:145,0,944:36:99:0.152 chr5 230980 rs2288461 A G 6276.72 PASS DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=54;MQ0=0;QD=28.27;SB=-3235.73;TI=NM_004168;GI=SDHA;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,222:222:99:6277,451,0:54:99:1.000 chr5 231111 rs1126417 T C 4011.12 PASS DP=132;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.6274;MQ=55;MQ0=0;QD=30.39;SB=-1778.85;TI=NM_004168;GI=SDHA;FC=Synonymous_P297P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:132:99:4011,295,0:55:99:1.000 chr5 422955 rs2292596 C G 3147.42 PASS BaseQRankSum=1.765;DP=219;Dels=0.00;FS=4.840;HRun=1;HaplotypeScore=7.3942;MQ=55;MQ0=0;MQRankSum=-0.875;QD=14.37;ReadPosRankSum=0.016;SB=-1710.10;TI=NM_020731;GI=AHRR;FC=Missense_P189A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,128:219:99:3177,0,1991:55:99:0.584 chr5 434722 rs34453673 G C 2642.39 PASS BaseQRankSum=2.920;DP=171;Dels=0.00;FS=1.212;HRun=0;HaplotypeScore=11.9956;MQ=54;MQ0=0;MQRankSum=3.277;QD=15.45;ReadPosRankSum=0.182;SB=-1467.36;TI=NM_020731;GI=AHRR;FC=Missense_D645H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,94:171:99:2672,0,1936:54:99:0.550 chr5 1208964 rs60992377 T C 862.23 PASS BaseQRankSum=-2.066;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9843;MQ=55;MQ0=0;MQRankSum=-1.673;QD=9.27;ReadPosRankSum=-1.273;SB=-469.07;TI=NM_001003841;GI=SLC6A19;FC=Synonymous_G102G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,41:93:99:892,0,1346:55:99:0.446 chr5 1213668 rs7732589 G A 1299.22 PASS BaseQRankSum=1.200;DP=136;Dels=0.00;FS=1.363;HRun=0;HaplotypeScore=3.6443;MQ=50;MQ0=0;MQRankSum=-0.585;QD=9.55;ReadPosRankSum=0.192;SB=-963.76;TI=NM_001003841;GI=SLC6A19;FC=Missense_V252I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,63:136:99:1329,0,1733:50:99:0.463 chr5 1216775 rs4975629 A G 3810.96 PASS DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7572;MQ=56;MQ0=0;QD=31.76;SB=-2256.71;TI=NM_001003841;GI=SLC6A19;FC=Synonymous_T330T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:120:99:3811,283,0:56:99:1.000 chr5 1225613 rs7704058 G A 5263.23 PASS DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6337;MQ=55;MQ0=0;QD=28.00;SB=-2504.43;TI=NM_182632;GI=SLC6A18;FC=Synonymous_P7P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,188:188:99:5263,379,0:55:99:1.000 chr5 1225626 rs7728667 T A 5513.66 PASS DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5213;MQ=55;MQ0=0;QD=27.85;SB=-3090.67;TI=NM_182632;GI=SLC6A18;FC=Missense_C12S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,198:198:99:5514,397,0:55:99:1.000 chr5 1225687 rs7705355 C T 6178.63 PASS DP=228;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=54;MQ0=0;QD=27.10;SB=-4311.29;TI=NM_182632;GI=SLC6A18;FC=Missense_T32I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,228:228:99:6179,448,0:54:99:1.000 chr5 1225688 rs7728814 T C 6181.92 PASS DP=228;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9734;MQ=54;MQ0=0;QD=27.11;SB=-4299.96;TI=NM_182632;GI=SLC6A18;FC=Synonymous_T32T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,228:228:99:6182,448,0:54:99:1.000 chr5 1225703 rs7724858 A G 6129.86 PASS DP=223;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7067;MQ=53;MQ0=0;QD=27.49;SB=-3679.26;TI=NM_182632;GI=SLC6A18;FC=Synonymous_G37G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,223:223:99:6130,442,0:53:99:1.000 chr5 1240757 rs7447815 C G 1316.03 PASS BaseQRankSum=0.475;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.5712;MQ=51;MQ0=0;MQRankSum=0.228;QD=12.65;ReadPosRankSum=-0.013;SB=-831.46;TI=NM_182632;GI=SLC6A18;FC=Nonsense_Y319X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,55:104:99:1346,0,1115:51:99:0.529 chr5 1244425 rs4073918 C T 7735.50 PASS DP=297;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8902;MQ=52;MQ0=0;QD=26.05;SB=-5527.26;TI=NM_182632;GI=SLC6A18;FC=Missense_P478L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,297:297:99:7735,563,0:52:99:1.000 chr5 1443199 rs6350 G A 1217.18 PASS BaseQRankSum=0.935;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=53;MQ0=0;MQRankSum=1.666;QD=10.23;ReadPosRankSum=1.298;SB=-880.17;TI=NM_001044;GI=SLC6A3;FC=Synonymous_N38N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,55:119:99:1247,0,1583:53:99:0.462 chr5 1880865 rs4975753 T C 725.14 PASS BaseQRankSum=0.807;DP=67;Dels=0.00;FS=3.520;HRun=1;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=2.676;QD=10.82;ReadPosRankSum=-1.112;SB=-247.64;TI=NM_016358;GI=IRX4;FC=Synonymous_P127P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,28:67:99:755,0,940:51:99:0.418 chr5 1881916 rs2307118 A C 387.04 PASS BaseQRankSum=2.157;DP=30;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.6821;MQ=53;MQ0=0;MQRankSum=-0.083;QD=12.90;ReadPosRankSum=0.166;SB=-101.97;TI=NM_016358;GI=IRX4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,15:30:99:417,0,364:53:99:0.500 chr5 1882129 rs2232374 T G 145.25 LowDP BaseQRankSum=-0.049;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58;MQ0=0;MQRankSum=0.634;QD=8.54;ReadPosRankSum=2.879;SB=-49.46;TI=NM_016358;GI=IRX4;FC=Synonymous_G30G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,7:17:99:175,0,251:58:99:0.412 chr5 5146335 rs2086310 C G 5875.63 PASS DP=198;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.0802;MQ=57;MQ0=0;QD=29.67;SB=-3196.13;TI=NM_139056;GI=ADAMTS16;FC=Missense_P90A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,198:198:99:5876,427,0:57:99:1.000 chr5 5146377 rs1019747 T C 2051.90 PASS BaseQRankSum=1.524;DP=204;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=11.6764;MQ=56;MQ0=0;MQRankSum=0.109;QD=10.06;ReadPosRankSum=-1.050;SB=-1196.62;TI=NM_139056;GI=ADAMTS16;FC=Missense_S104P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,88:204:99:2082,0,2913:56:99:0.431 chr5 5146395 rs1863968 A G 2967.20 PASS BaseQRankSum=3.584;DP=203;Dels=0.00;FS=1.098;HRun=0;HaplotypeScore=15.6613;MQ=56;MQ0=0;MQRankSum=0.081;QD=14.62;ReadPosRankSum=1.075;SB=-1641.55;TI=NM_139056;GI=ADAMTS16;FC=Missense_M110V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,114:203:99:2997,0,2143:56:99:0.562 chr5 5200281 rs6555335 C T 2719.94 PASS DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=51;MQ0=0;QD=26.41;SB=-1796.90;TI=NM_139056;GI=ADAMTS16;FC=Synonymous_C450C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,103:103:99:2753,199,0:51:99:1.000 chr5 5239921 rs11742341 C T 2146.49 PASS BaseQRankSum=1.157;DP=184;Dels=0.00;FS=1.144;HRun=0;HaplotypeScore=12.3389;MQ=56;MQ0=0;MQRankSum=0.589;QD=11.67;ReadPosRankSum=-0.475;SB=-1426.40;TI=NM_139056;GI=ADAMTS16;FC=Synonymous_T802T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,88:184:99:2176,0,2216:56:99:0.478 chr5 5240002 rs11742370 C A 2354.22 PASS BaseQRankSum=0.270;DP=199;Dels=0.00;FS=4.102;HRun=0;HaplotypeScore=7.4422;MQ=52;MQ0=0;MQRankSum=2.047;QD=11.83;ReadPosRankSum=0.489;SB=-1490.21;TI=NM_139056;GI=ADAMTS16;FC=Synonymous_I829I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,101:199:99:2384,0,2412:52:99:0.508 chr5 6600150 rs3822434 G A 966.19 PASS BaseQRankSum=0.735;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8936;MQ=59;MQ0=0;MQRankSum=0.493;QD=16.95;ReadPosRankSum=-1.705;SB=-239.76;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Synonymous_D731D,Synonymous_D696D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,33:57:99:996,0,642:59:99:0.579 chr5 6605532 rs2303707 C A 1174.58 PASS BaseQRankSum=1.304;DP=98;Dels=0.00;FS=1.649;HRun=2;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=-0.446;QD=11.99;ReadPosRankSum=0.225;SB=-897.25;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,54:98:99:1205,0,1039:55:99:0.551 chr5 6623354 . C T 420.69 PASS BaseQRankSum=-1.012;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=47;MQ0=0;MQRankSum=1.750;QD=8.76;ReadPosRankSum=1.455;SB=-166.48;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Synonymous_L170L,Synonymous_L135L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,19:48:99:451,0,778:47:99:0.396 chr5 6632875 rs10076470 G A 1576.16 PASS BaseQRankSum=0.000;DP=120;Dels=0.00;FS=8.851;HRun=2;HaplotypeScore=9.8573;MQ=56;MQ0=0;MQRankSum=3.947;QD=13.13;ReadPosRankSum=3.295;SB=-877.39;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,63:120:99:1606,0,1360:56:99:0.525 chr5 6633042 rs10062086 C T 987.65 PASS BaseQRankSum=-0.059;DP=57;Dels=0.00;FS=2.515;HRun=1;HaplotypeScore=6.9740;MQ=52;MQ0=0;MQRankSum=1.143;QD=17.33;ReadPosRankSum=-0.669;SB=-492.92;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Synonymous_E17E,Synonymous_E17E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,38:57:99:1018,0,464:52:99:0.667 chr5 6748659 rs274681 T C 1599.13 PASS BaseQRankSum=1.361;DP=149;Dels=0.00;FS=0.617;HRun=1;HaplotypeScore=9.2547;MQ=49;MQ0=0;MQRankSum=0.877;QD=10.73;ReadPosRankSum=0.649;SB=-1065.28;TI=NM_006999,NM_001171805,NM_001171806;GI=PAPD7,PAPD7,PAPD7;FC=Synonymous_A264A,Synonymous_A264A,Synonymous_A84A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,69:149:99:1629,0,1745:49:99:0.463 chr5 7870973 rs1801394 A G 1301.87 PASS BaseQRankSum=1.638;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48;MQ0=0;MQRankSum=-0.007;QD=10.41;ReadPosRankSum=-0.216;SB=-894.84;TI=NM_024010,NM_002454;GI=MTRR,MTRR;FC=Missense_I49M,Missense_I22M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,57:125:99:1332,0,1633:48:99:0.456 chr5 7878179 rs1532268 C T 1400.23 PASS BaseQRankSum=0.901;DP=95;Dels=0.00;FS=4.967;HRun=1;HaplotypeScore=4.5761;MQ=57;MQ0=0;MQRankSum=-0.901;QD=14.74;ReadPosRankSum=1.756;SB=-89.23;TI=NM_024010,NM_002454;GI=MTRR,MTRR;FC=Missense_S202L,Missense_S175L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,45:95:99:1430,0,1435:57:99:0.479 chr5 7878192 rs161870 T C 1626.78 PASS BaseQRankSum=0.882;DP=114;Dels=0.00;FS=0.888;HRun=0;HaplotypeScore=2.6548;MQ=57;MQ0=0;MQRankSum=0.638;QD=14.27;ReadPosRankSum=-0.809;SB=-455.98;TI=NM_024010,NM_002454;GI=MTRR,MTRR;FC=Synonymous_L206L,Synonymous_L179L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,60:114:99:1657,0,1547:57:99:0.526 chr5 7885959 rs162036 A G 1197.42 PASS BaseQRankSum=-0.853;DP=119;Dels=0.00;FS=3.393;HRun=1;HaplotypeScore=2.8936;MQ=51;MQ0=0;MQRankSum=-1.465;QD=10.06;ReadPosRankSum=-1.071;SB=-739.87;TI=NM_024010,NM_002454;GI=MTRR,MTRR;FC=Missense_K377R,Missense_K350R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,58:119:99:1227,0,1412:51:99:0.487 chr5 7897191 rs10380 C T 1109.75 PASS BaseQRankSum=-0.444;DP=122;Dels=0.00;FS=1.472;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.486;QD=9.10;ReadPosRankSum=-1.515;SB=-706.81;TI=NM_024010,NM_002454;GI=MTRR,MTRR;FC=Missense_H622Y,Missense_H595Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,49:122:99:1140,0,1837:54:99:0.402 chr5 7897283 rs12347 G A 1209.50 PASS BaseQRankSum=0.069;DP=97;Dels=0.00;FS=8.692;HRun=0;HaplotypeScore=4.4648;MQ=54;MQ0=0;MQRankSum=1.728;QD=12.47;ReadPosRankSum=-0.489;SB=-806.76;TI=NM_024010,NM_002454;GI=MTRR,MTRR;FC=Synonymous_V652V,Synonymous_V625V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,53:97:99:1239,0,1053:54:99:0.546 chr5 7897319 rs1802059 G A 719.08 PASS BaseQRankSum=0.336;DP=56;Dels=0.00;FS=1.274;HRun=1;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=0.057;QD=12.84;ReadPosRankSum=-0.352;SB=-154.77;TI=NM_024010,NM_002454;GI=MTRR,MTRR;FC=Synonymous_A664A,Synonymous_A637A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,28:56:99:749,0,803:56:99:0.500 chr5 10250443 rs2578618;rs11557651 T C 1429.77 PASS DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=26.98;SB=-980.18;TI=NM_012073;GI=CCT5;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1463,105,0:55:99:1.000 chr5 10254817 rs2578617 A G 2315.95 PASS DP=76;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=30.47;SB=-936.21;TI=NM_012073;GI=CCT5;FC=Synonymous_G66G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2349,175,0:54:99:1.000 chr5 10256161 rs1042392 T C 1706.74 PASS DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=25.86;SB=-1142.10;TI=NM_012073;GI=CCT5;FC=Synonymous_R142R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:66:99:1740,123,0:51:99:1.000 chr5 10262740 rs2578642 C A 890.01 PASS DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4250;MQ=53;MQ0=0;QD=26.18;SB=-495.53;TI=NM_012073;GI=CCT5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:66.22:923,66,0:53:66:1.000 chr5 13701525 rs3734111 T C 2152.47 PASS BaseQRankSum=0.580;DP=170;Dels=0.00;FS=0.587;HRun=0;HaplotypeScore=8.3535;MQ=55;MQ0=0;MQRankSum=1.033;QD=12.66;ReadPosRankSum=1.492;SB=-1083.31;TI=NM_001369;GI=DNAH5;FC=Synonymous_T4453T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,86:170:99:2182,0,2212:55:99:0.509 chr5 13701536 rs3734110 T C 1955.08 PASS BaseQRankSum=0.828;DP=148;Dels=0.00;FS=0.633;HRun=2;HaplotypeScore=15.4306;MQ=55;MQ0=0;MQRankSum=2.122;QD=13.21;ReadPosRankSum=1.653;SB=-974.45;TI=NM_001369;GI=DNAH5;FC=Missense_I4450V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,76:148:99:1985,0,1994:55:99:0.517 chr5 13714740 rs30175 G A 447.68 PASS BaseQRankSum=0.015;DP=39;Dels=0.00;FS=1.317;HRun=1;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=1.096;QD=11.48;ReadPosRankSum=0.015;SB=-307.45;TI=NM_001369;GI=DNAH5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,20:39:99:478,0,452:52:99:0.526 chr5 13719022 rs30169 T G 1785.65 PASS BaseQRankSum=0.339;DP=148;Dels=0.00;FS=4.150;HRun=1;HaplotypeScore=5.4103;MQ=56;MQ0=0;MQRankSum=-0.525;QD=12.07;ReadPosRankSum=-1.866;SB=-974.45;TI=NM_001369;GI=DNAH5;FC=Synonymous_G4156G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,75:148:99:1816,0,1825:56:99:0.510 chr5 13719089 rs30168 G A 2022.33 PASS BaseQRankSum=2.081;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3478;MQ=54;MQ0=0;MQRankSum=1.487;QD=10.53;ReadPosRankSum=1.948;SB=-1448.07;TI=NM_001369;GI=DNAH5;FC=Missense_A4134V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,90:192:99:2052,0,2488:54:99:0.469 chr5 13754394 rs2401809 C T 1602.37 PASS BaseQRankSum=0.888;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=53;MQ0=0;MQRankSum=-0.978;QD=14.31;ReadPosRankSum=-1.371;SB=-1046.10;TI=NM_001369;GI=DNAH5;FC=Synonymous_T3491T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,71:112:99:1632,0,1000:53:99:0.634 chr5 13762972 rs6554812 T C 1730.40 PASS DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.84;SB=-1042.57;TI=NM_001369;GI=DNAH5;FC=Synonymous_E3380E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:1763,126,0:57:99:1.000 chr5 13842022 . G A 3.41 LowGQX;SB BaseQRankSum=-3.031;DP=24;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=26.8649;MQ=46;MQ0=0;MQRankSum=-2.848;QD=0.14;ReadPosRankSum=3.399;SB=-0.01;TI=NM_001369;GI=DNAH5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,8:24:30.76:31,0,346:46:3:0.333 chr5 13882841 rs10057007 A G 1745.93 PASS BaseQRankSum=0.373;DP=106;Dels=0.00;FS=2.654;HRun=1;HaplotypeScore=2.8095;MQ=55;MQ0=0;MQRankSum=1.802;QD=16.47;ReadPosRankSum=-0.733;SB=-849.97;TI=NM_001369;GI=DNAH5;FC=Synonymous_L1086L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,63:106:99:1776,0,1103:55:99:0.594 chr5 13886244 . CAAA C 366.38 LowVariantFreq;R8 BaseQRankSum=-0.073;DP=36;FS=2.020;HRun=19;HaplotypeScore=145.1379;MQ=48;MQ0=1;MQRankSum=-1.537;QD=10.18;ReadPosRankSum=0.561;SB=-56.06;TI=NM_001369;GI=DNAH5;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,5:35:99:405,0,310:48:99:0.185 chr5 13900345 rs1445823 A G 793.46 PASS DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=31.74;SB=-440.22;TI=NM_001369;GI=DNAH5;FC=Synonymous_D743D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,25:25:60.20:826,60,0:57:60:1.000 chr5 13902220 rs1530498 T C 1131.87 PASS BaseQRankSum=0.086;DP=111;Dels=0.00;FS=0.709;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=-0.269;QD=10.20;ReadPosRankSum=0.434;SB=-765.31;TI=NM_001369;GI=DNAH5;FC=Missense_T558A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,53:111:99:1162,0,1533:54:99:0.477 chr5 13913885 rs3213936 A G 2491.89 PASS BaseQRankSum=1.049;DP=190;Dels=0.00;FS=0.553;HRun=0;HaplotypeScore=10.0359;MQ=53;MQ0=0;MQRankSum=0.656;QD=13.12;ReadPosRankSum=0.197;SB=-1138.39;TI=NM_001369;GI=DNAH5;FC=Synonymous_I501I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,94:190:99:2522,0,2453:53:99:0.495 chr5 13931340 rs1530496 C T 1348.36 PASS DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.31;SB=-599.77;TI=NM_001369;GI=DNAH5;FC=Missense_G24E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:99:1381,102,0:55:99:1.000 chr5 13944512 rs339445 A C 5741.05 PASS DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=51;MQ0=0;QD=28.14;SB=-3923.85;TI=NM_001369;GI=DNAH5;FC=Missense_H12Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,204:204:99:5741,412,0:51:99:1.000 chr5 14388797 . G GT 101.67 R8 BaseQRankSum=-0.079;DP=45;FS=9.674;HRun=18;HaplotypeScore=154.6584;MQ=47;MQ0=0;MQRankSum=1.024;QD=2.26;ReadPosRankSum=-0.525;SB=-74.14;TI=NM_007118;GI=TRIO;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,9:45:99:141,0,249:47:99:0.300 chr5 14389469 rs7715916 C T 933.28 PASS BaseQRankSum=0.474;DP=62;Dels=0.00;FS=5.099;HRun=2;HaplotypeScore=0.9159;MQ=58;MQ0=0;MQRankSum=0.785;QD=15.05;ReadPosRankSum=-0.163;SB=-464.98;TI=NM_007118;GI=TRIO;FC=Synonymous_I1340I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,34:62:99:963,0,691:58:99:0.548 chr5 14397238 rs30774 T C 1195.42 PASS BaseQRankSum=1.712;DP=93;Dels=0.00;FS=1.728;HRun=0;HaplotypeScore=0.9894;MQ=54;MQ0=0;MQRankSum=0.050;QD=12.85;ReadPosRankSum=1.774;SB=-655.04;TI=NM_007118;GI=TRIO;FC=Synonymous_D1466D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,49:93:99:1225,0,1100:54:99:0.527 chr5 14420027 rs30612 A C 2503.58 PASS DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2310;MQ=56;MQ0=0;QD=30.91;SB=-1296.20;TI=NM_007118;GI=TRIO;FC=Synonymous_T1700T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2537,187,0:56:99:1.000 chr5 14461168 rs55812347 A G 1581.71 PASS BaseQRankSum=1.712;DP=155;Dels=0.00;FS=1.291;HRun=0;HaplotypeScore=3.6271;MQ=53;MQ0=0;MQRankSum=1.809;QD=10.20;ReadPosRankSum=0.308;SB=-987.20;TI=NM_007118;GI=TRIO;FC=Synonymous_A1748A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,69:155:99:1612,0,2084:53:99:0.445 chr5 14487662 . G A 40.22 SB;LowDP BaseQRankSum=0.546;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47;MQ0=0;MQRankSum=-1.214;QD=4.02;ReadPosRankSum=-2.166;SB=-0.01;TI=NM_007118;GI=TRIO;FC=Missense_G2309S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,3:10:70.21:70,0,232:47:40:0.300 chr5 14487665 . G T 40.22 SB;LowDP BaseQRankSum=-0.731;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47;MQ0=0;MQRankSum=-1.818;QD=4.02;ReadPosRankSum=-2.166;SB=-0.01;TI=NM_007118;GI=TRIO;FC=Missense_G2310C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,3:10:70.21:70,0,232:47:40:0.300 chr5 14487673 . G C 26.47 SB;LowDP BaseQRankSum=-0.370;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=-1.849;QD=2.21;ReadPosRankSum=-1.479;SB=-0.01;TI=NM_007118;GI=TRIO;FC=Synonymous_G2312G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,3:12:56.45:56,0,298:50:26:0.250 chr5 21752050 rs6451992 A G 8395.29 PASS DP=298;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.5486;MQ=52;MQ0=0;QD=28.17;SB=-4631.41;TI=NM_004061;GI=CDH12;FC=Synonymous_D727D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,297:298:99:8395,617,0:52:99:1.000 chr5 21752056 rs6451993 A G 8516.47 PASS DP=291;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.5797;MQ=52;MQ0=0;QD=29.27;SB=-4686.74;TI=NM_004061;GI=CDH12;FC=Synonymous_D725D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,291:291:99:8516,617,0:52:99:1.000 chr5 23527052 . C T 13.37 SB;LowDP BaseQRankSum=-0.354;DP=13;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=4.5517;MQ=34;MQ0=2;MQRankSum=0.118;QD=1.03;ReadPosRankSum=-1.768;SB=0.02;TI=NM_020227;GI=PRDM9;FC=Missense_R619W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,4:13:43.16:43,0,96:34:13:0.308 chr5 23527239 rs6875787 C G 44.53 LowDP BaseQRankSum=0.421;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7680;MQ=28;MQ0=1;MQRankSum=0.421;QD=4.45;ReadPosRankSum=-0.421;SB=-27.39;TI=NM_020227;GI=PRDM9;FC=Missense_T681S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,4:10:51.22:75,0,51:28:45:0.444 chr5 23527559 . A G 77.85 LowDP BaseQRankSum=-1.670;DP=15;Dels=0.00;FS=2.632;HRun=0;HaplotypeScore=9.4276;MQ=43;MQ0=1;MQRankSum=-1.855;QD=5.19;ReadPosRankSum=-0.271;SB=-15.38;TI=NM_020227;GI=PRDM9;FC=Missense_K788E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,5:15:99:108,0,239:43:78:0.357 chr5 23527640 . A G 4.82 LowGQX;SB;LowDP BaseQRankSum=-1.109;DP=15;Dels=0.00;FS=4.260;HRun=0;HaplotypeScore=22.3708;MQ=40;MQ0=1;MQRankSum=-1.479;QD=0.32;ReadPosRankSum=0.370;SB=-0.01;TI=NM_020227;GI=PRDM9;FC=Missense_N815D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,4:15:33.08:33,0,204:40:5:0.308 chr5 23527721 . C A 7.62 LowGQX;SB;LowDP BaseQRankSum=-1.739;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8821;MQ=46;MQ0=0;MQRankSum=-0.685;QD=0.45;ReadPosRankSum=-1.634;SB=-0.01;TI=NM_020227;GI=PRDM9;FC=Missense_R842S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,5:17:36.79:37,0,259:46:8:0.294 chr5 23527724 . A G 26.42 LowVariantFreq;SB;LowDP BaseQRankSum=-0.189;DP=17;Dels=0.00;FS=6.803;HRun=0;HaplotypeScore=6.8804;MQ=46;MQ0=0;MQRankSum=-1.953;QD=1.55;ReadPosRankSum=0.693;SB=-0.01;TI=NM_020227;GI=PRDM9;FC=Missense_N843D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,3:17:56.40:56,0,344:46:26:0.176 chr5 23527777 . C T 27.16 LowDP BaseQRankSum=1.377;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7186;MQ=49;MQ0=0;MQRankSum=-1.377;QD=2.47;ReadPosRankSum=1.708;SB=-24.28;TI=NM_020227;GI=PRDM9;FC=Synonymous_Y860Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,3:11:57.15:57,0,170:49:27:0.273 chr5 31435975 . CA C 80.26 LowVariantFreq;R8 BaseQRankSum=-0.584;DP=60;FS=2.356;HRun=11;HaplotypeScore=149.3445;MQ=54;MQ0=0;MQRankSum=1.753;QD=1.34;ReadPosRankSum=2.478;SB=-13.15;TI=NM_001100412,NM_013235;GI=DROSHA,DROSHA;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,10:60:99:119,0,1051:54:80:0.189 chr5 31515657 rs55656741 G A 916.84 PASS BaseQRankSum=0.819;DP=97;Dels=0.00;FS=0.765;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.482;QD=9.45;ReadPosRankSum=1.139;SB=-662.59;TI=NM_001100412,NM_013235;GI=DROSHA,DROSHA;FC=Silent,Missense_S321L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,42:97:99:947,0,1455:55:99:0.433 chr5 31526566 . T G 79.33 SB BaseQRankSum=-3.349;DP=67;Dels=0.00;FS=26.630;HRun=2;HaplotypeScore=84.6560;MQ=39;MQ0=0;MQRankSum=-3.537;QD=1.18;ReadPosRankSum=1.906;SB=-0.01;TI=NM_001100412,NM_013235;GI=DROSHA,DROSHA;FC=Synonymous_P158P,Synonymous_P158P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,14:67:99:109,0,1089:39:79:0.212 chr5 31526569 . A G 251.38 SB BaseQRankSum=-3.410;DP=70;Dels=0.01;FS=40.320;HRun=5;HaplotypeScore=75.4010;MQ=39;MQ0=0;MQRankSum=-3.410;QD=3.59;ReadPosRankSum=1.741;SB=-0.01;TI=NM_001100412,NM_013235;GI=DROSHA,DROSHA;FC=Synonymous_P157P,Synonymous_P157P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,21:69:99:281,0,1081:39:99:0.304 chr5 31526575 . C G 89.75 SB BaseQRankSum=-1.770;DP=60;Dels=0.00;FS=20.801;HRun=5;HaplotypeScore=65.4601;MQ=37;MQ0=0;MQRankSum=-3.002;QD=1.50;ReadPosRankSum=0.762;SB=-0.01;TI=NM_001100412,NM_013235;GI=DROSHA,DROSHA;FC=Synonymous_P155P,Synonymous_P155P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,11:60:99:120,0,944:37:90:0.212 chr5 33951693 rs16891982 C G 2583.62 PASS DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=51;MQ0=0;QD=25.58;SB=-1775.83;TI=NM_016180,NM_001012509;GI=SLC45A2,SLC45A2;FC=Missense_L374F,Missense_L374F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2617,187,0:51:99:1.000 chr5 33954511 rs2287949 T C 2871.83 PASS DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=28.16;SB=-1715.35;TI=NM_016180,NM_001012509;GI=SLC45A2,SLC45A2;FC=Synonymous_T329T,Synonymous_T329T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:102:99:2905,208,0:55:99:1.000 chr5 33989518 rs2278008 C T 5505.56 PASS BaseQRankSum=0.041;DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6765;MQ=60;MQ0=0;MQRankSum=0.835;QD=32.39;ReadPosRankSum=1.365;SB=-3076.52;TI=NM_014324,NM_001167595,NM_203382;GI=AMACR,AMACR,AMACR;FC=Missense_E277K,Missense_E277K,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,169:170:99:5506,366,0:60:99:0.994 chr5 33998768 rs34677 C A 650.51 PASS BaseQRankSum=2.154;DP=75;Dels=0.00;FS=0.932;HRun=2;HaplotypeScore=2.7547;MQ=54;MQ0=0;MQRankSum=2.789;QD=8.67;ReadPosRankSum=0.340;SB=-333.56;TI=NM_014324,NM_001167595,NM_203382,NM_001167597,NM_001167596,NM_001167598;GI=AMACR,AMACR,AMACR,AMACR,AMACR,AMACR;FC=Missense_Q239H,Missense_Q239H,Missense_V186F,Missense_V186F,Missense_Q239H,Missense_Q239H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,26:75:99:681,0,1340:54:99:0.347 chr5 33998883 rs2287939 A G 5518.85 PASS DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=53;MQ0=0;QD=29.20;SB=-2961.28;TI=NM_014324,NM_001167595,NM_203382,NM_001167597,NM_001167596,NM_001167598;GI=AMACR,AMACR,AMACR,AMACR,AMACR,AMACR;FC=Missense_L201S,Missense_L201S,Synonymous_I147I,Synonymous_I147I,Missense_L201S,Missense_L201S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,189:189:99:5519,394,0:53:99:1.000 chr5 34004707 rs10941112 C T 1245.26 PASS BaseQRankSum=0.191;DP=149;Dels=0.00;FS=0.628;HRun=0;HaplotypeScore=4.6703;MQ=51;MQ0=0;MQRankSum=1.518;QD=8.36;ReadPosRankSum=-0.202;SB=-831.40;TI=NM_014324,NM_001167595,NM_203382,NM_001167597,NM_001167596,NM_001167598;GI=AMACR,AMACR,AMACR,AMACR,AMACR,AMACR;FC=Missense_G175D,Missense_G175D,Silent,Silent,Missense_G175D,Missense_G175D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,58:149:99:1275,0,2191:51:99:0.392 chr5 34008100 rs3195676 C T 748.01 PASS BaseQRankSum=-0.642;DP=76;Dels=0.00;FS=0.874;HRun=0;HaplotypeScore=5.4537;MQ=49;MQ0=0;MQRankSum=0.413;QD=9.84;ReadPosRankSum=-0.392;SB=-515.68;TI=NM_014324,NM_001167595,NM_203382,NM_001167597,NM_001167596,NM_001167598;GI=AMACR,AMACR,AMACR,AMACR,AMACR,AMACR;FC=Missense_V9M,Missense_V9M,Missense_V9M,Missense_V9M,Missense_V9M,Missense_V9M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,34:76:99:778,0,1019:49:99:0.447 chr5 34998877 rs16899974 C A 934.02 PASS BaseQRankSum=0.568;DP=84;Dels=0.00;FS=0.828;HRun=1;HaplotypeScore=4.4704;MQ=54;MQ0=0;MQRankSum=0.874;QD=11.12;ReadPosRankSum=1.225;SB=-560.52;TI=NM_031900;GI=AGXT2;FC=Missense_V498L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,37:84:99:964,0,1301:54:99:0.440 chr5 35010138 rs466067 A G 3013.57 PASS DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=27.65;SB=-1659.92;TI=NM_031900;GI=AGXT2;FC=Synonymous_G435G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:109:99:3047,217,0:55:99:1.000 chr5 35033605 rs180749 G A 3047.52 PASS DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=55;MQ0=0;QD=29.02;SB=-1377.70;TI=NM_031900;GI=AGXT2;FC=Missense_T212I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:105:99:3081,229,0:55:99:1.000 chr5 35039437 rs2279651 A G 1874.46 PASS DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7502;MQ=58;MQ0=0;QD=34.08;SB=-685.58;TI=NM_031900;GI=AGXT2;FC=Synonymous_H118H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1907,141,0:58:99:1.000 chr5 35039486 rs37370 C T 3184.27 PASS BaseQRankSum=1.663;DP=100;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.5761;MQ=57;MQ0=0;MQRankSum=0.277;QD=31.84;ReadPosRankSum=-1.074;SB=-1811.03;TI=NM_031900;GI=AGXT2;FC=Missense_S102N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,99:100:99:3217,238,0:57:99:0.990 chr5 35861068 rs1494558 T C 2142.72 PASS BaseQRankSum=1.357;DP=174;Dels=0.00;FS=0.566;HRun=1;HaplotypeScore=12.0835;MQ=56;MQ0=0;MQRankSum=1.189;QD=12.31;ReadPosRankSum=2.516;SB=-1248.36;TI=NM_002185;GI=IL7R;FC=Missense_I66T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,87:174:99:2173,0,2282:56:99:0.500 chr5 35871190 rs1494555 G A 2862.79 PASS BaseQRankSum=1.958;DP=233;Dels=0.00;FS=0.487;HRun=0;HaplotypeScore=12.1921;MQ=56;MQ0=0;MQRankSum=0.177;QD=12.29;ReadPosRankSum=-2.147;SB=-1591.29;TI=NM_002185;GI=IL7R;FC=Missense_V138I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,118:233:99:2893,0,2883:56:99:0.509 chr5 35871273 rs2228141 C T 3036.05 PASS BaseQRankSum=0.934;DP=233;Dels=0.00;FS=4.765;HRun=0;HaplotypeScore=3.6717;MQ=55;MQ0=0;MQRankSum=2.931;QD=13.03;ReadPosRankSum=1.483;SB=-1630.45;TI=NM_002185;GI=IL7R;FC=Synonymous_H165H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,123:233:99:3066,0,2939:55:99:0.528 chr5 35876251 rs41270321 A C 1540.10 PASS BaseQRankSum=1.434;DP=153;Dels=0.00;FS=2.037;HRun=1;HaplotypeScore=8.4235;MQ=57;MQ0=0;MQRankSum=1.678;QD=10.07;ReadPosRankSum=0.275;SB=-959.45;TI=NM_002185;GI=IL7R;FC=Missense_N348T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,65:153:99:1570,0,2293:57:99:0.425 chr5 36677083 rs2032892 G C 2025.13 PASS BaseQRankSum=0.109;DP=148;Dels=0.00;FS=1.391;HRun=0;HaplotypeScore=2.7605;MQ=54;MQ0=0;MQRankSum=2.469;QD=13.68;ReadPosRankSum=1.705;SB=-922.69;TI=NM_004172,NM_001166695;GI=SLC1A3,SLC1A3;FC=Missense_E219D,Missense_E219D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,76:148:99:2055,0,1867:54:99:0.514 chr5 37169568 . C A 5.92 LowGQX;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.804;QD=2.96;ReadPosRankSum=0.804;SB=-0.01;TI=NM_023073;GI=C5orf42;FC=Synonymous_S2186S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:34.63:35,0,35:60:6:0.500 chr5 37196028 rs72736758 C T 782.80 PASS BaseQRankSum=0.391;DP=92;Dels=0.00;FS=2.872;HRun=0;HaplotypeScore=1.7882;MQ=50;MQ0=0;MQRankSum=1.848;QD=8.51;ReadPosRankSum=0.619;SB=-422.33;TI=NM_023073;GI=C5orf42;FC=Missense_G1248D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,33:92:99:813,0,1384:50:99:0.359 chr5 37294473 rs1045908 T C 3374.02 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=29.09;SB=-2140.51;TI=NM_004298,NM_153485;GI=NUP155,NUP155;FC=Synonymous_L1237L,Synonymous_L1296L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3374,244,0:53:99:1.000 chr5 37309371 rs3835198 TAGA T 3909.28 PASS BaseQRankSum=-0.304;DP=78;FS=0.000;HRun=0;HaplotypeScore=62.3238;MQ=60;MQ0=0;MQRankSum=0.368;QD=50.12;ReadPosRankSum=-1.169;SB=-1905.43;TI=NM_004298,NM_153485;GI=NUP155,NUP155;FC=Splicing,Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,75:78:99:3909,113,0:60:99:0.962 chr5 37341352 rs13172306 T C 630.41 LowDP DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=35.02;SB=-80.66;TI=NM_004298,NM_153485;GI=NUP155,NUP155;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,18:18:51.16:663,51,0:60:51:1.000 chr5 37364443 rs217852 C T 2437.99 PASS DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=53;MQ0=0;QD=27.09;SB=-1541.16;TI=NM_004298,NM_153485;GI=NUP155,NUP155;FC=Synonymous_L8L,Synonymous_L67L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:90:99:2471,175,0:53:99:1.000 chr5 38528951 . GACAC G,GAC 2177.57 LowVariantFreq;R8 BaseQRankSum=-1.403;DP=145;FS=0.000;HaplotypeScore=193.4238;MQ=51;MQ0=1;MQRankSum=-1.278;QD=15.02;ReadPosRankSum=1.696;SB=-666.30;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:87,7,0:144:99:2256,1635,1890,360,0,254:51:99:0.074 chr5 39342308 rs476569 C T 1782.27 PASS BaseQRankSum=0.872;DP=135;Dels=0.00;FS=2.357;HRun=0;HaplotypeScore=4.4704;MQ=55;MQ0=0;MQRankSum=-0.196;QD=13.20;ReadPosRankSum=-1.040;SB=-883.32;TI=NM_001737;GI=C9;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,73:135:99:1812,0,1615:55:99:0.541 chr5 39364554 rs700233 G A 2094.03 PASS DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=26.85;SB=-1537.19;TI=NM_001737;GI=C9;FC=Missense_R5W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2127,150,0:53:99:1.000 chr5 40949997 rs1450656 C T 1361.53 PASS BaseQRankSum=1.805;DP=96;Dels=0.00;FS=4.225;HRun=4;HaplotypeScore=6.4532;MQ=57;MQ0=0;MQRankSum=1.046;QD=14.18;ReadPosRankSum=-1.812;SB=-642.38;TI=NM_000587;GI=C7;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,53:96:99:1392,0,1153:57:99:0.552 chr5 40955561 rs1063499 G C 1887.50 PASS BaseQRankSum=0.061;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=55;MQ0=0;MQRankSum=1.756;QD=13.58;ReadPosRankSum=-0.892;SB=-1164.97;TI=NM_000587;GI=C7;FC=Missense_S389T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,77:139:99:1917,0,1455:55:99:0.554 chr5 41158863 rs6866352 G A 3294.59 PASS DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=27.23;SB=-2111.66;TI=NM_000065,NM_001115131;GI=C6,C6;FC=Synonymous_D627D,Synonymous_D627D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3295,232,0:51:99:1.000 chr5 41199959 rs1801033 G T 2358.27 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.42;SB=-1147.20;TI=NM_000065,NM_001115131;GI=C6,C6;FC=Missense_A119E,Missense_A119E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2391,172,0:53:99:1.000 chr5 42700044 rs6179 A G 3411.43 PASS BaseQRankSum=0.656;DP=132;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=0.210;QD=25.84;ReadPosRankSum=-1.365;SB=-2583.43;TI=NM_000163;GI=GHR;FC=Synonymous_G186G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,131:132:99:3411,203,0:53:99:0.992 chr5 42719239 rs6180 A C 2898.05 PASS BaseQRankSum=1.057;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7541;MQ=55;MQ0=0;MQRankSum=-1.082;QD=29.27;ReadPosRankSum=-1.629;SB=-1447.39;TI=NM_000163;GI=GHR;FC=Missense_I544L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,97:99:99:2931,178,0:55:99:0.980 chr5 42800866 rs28919926 G A 1074.16 PASS BaseQRankSum=2.641;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4699;MQ=55;MQ0=0;MQRankSum=-0.365;QD=11.07;ReadPosRankSum=0.054;SB=-564.83;TI=NM_001134848,NM_005410,NM_001093726,NM_001085486;GI=CCDC152,SEPP1,SEPP1,SEPP1;FC=Silent,Missense_R368C,Missense_R398C,Missense_R368C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,46:97:99:1104,0,1382:55:99:0.474 chr5 42801179 . C T 3282.67 PASS BaseQRankSum=2.233;DP=231;Dels=0.00;FS=2.281;HRun=0;HaplotypeScore=7.3089;MQ=53;MQ0=0;MQRankSum=1.010;QD=14.21;ReadPosRankSum=1.850;SB=-1837.82;TI=NM_001134848,NM_005410,NM_001093726,NM_001085486;GI=CCDC152,SEPP1,SEPP1,SEPP1;FC=Silent,Missense_M263I,Missense_M293I,Missense_M263I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,121:231:99:3283,0,2810:53:99:0.526 chr5 45396654 . G A 3034.97 PASS BaseQRankSum=2.784;DP=253;Dels=0.00;FS=0.460;HRun=1;HaplotypeScore=13.4277;MQ=54;MQ0=0;MQRankSum=1.042;QD=12.00;ReadPosRankSum=-0.622;SB=-2081.35;TI=NM_021072;GI=HCN1;FC=Synonymous_V390V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,134:253:99:3065,0,2689:54:99:0.530 chr5 50685505 rs2303751 A G 173.02 LowDP BaseQRankSum=0.543;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9916;MQ=57;MQ0=0;MQRankSum=-0.543;QD=9.61;ReadPosRankSum=-0.725;SB=-63.40;TI=NM_002202;GI=ISL1;FC=Synonymous_P168P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,7:18:99:203,0,288:57:99:0.389 chr5 52344610 rs1421933 A G 562.71 PASS BaseQRankSum=-0.952;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-1.049;QD=19.40;ReadPosRankSum=-0.854;SB=-359.56;TI=NM_002203;GI=ITGA2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,21:29:99:593,0,182:54:99:0.724 chr5 52358761 . TA T 113.52 R8 BaseQRankSum=0.338;DP=41;FS=6.066;HRun=13;HaplotypeScore=77.9362;MQ=57;MQ0=0;MQRankSum=-2.633;QD=2.77;ReadPosRankSum=-0.544;SB=-67.89;TI=NM_002203;GI=ITGA2;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,10:41:99:153,0,570:57:99:0.270 chr5 52856504 rs2279516 G C 1769.95 PASS DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=32.78;SB=-871.25;TI=NM_002495;GI=NDUFS4;FC=Synonymous_V4V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1803,132,0:57:99:1.000 chr5 52942083 rs31304 A C 6136.27 PASS BaseQRankSum=1.594;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.3023;MQ=56;MQ0=0;MQRankSum=-1.250;QD=30.53;ReadPosRankSum=-1.370;SB=-3060.14;TI=NM_002495;GI=NDUFS4;FC=Synonymous_G66G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,200:201:99:6136,451,0:56:99:0.995 chr5 52942197 rs31303 A G 6079.00 PASS DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=17.4310;MQ=56;MQ0=0;QD=31.17;SB=-3260.52;TI=NM_002495;GI=NDUFS4;FC=Synonymous_R104R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,195:195:99:6079,448,0:56:99:1.000 chr5 55155402 rs1009639 C T 6705.81 PASS DP=222;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1192;MQ=53;MQ0=0;QD=30.21;SB=-4133.43;TI=NM_139017;GI=IL31RA;FC=Synonymous_P43P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,222:222:99:6706,485,0:53:99:1.000 chr5 55204187 rs9632389 T G 1430.82 PASS BaseQRankSum=1.430;DP=134;Dels=0.00;FS=5.306;HRun=3;HaplotypeScore=6.3304;MQ=53;MQ0=0;MQRankSum=0.260;QD=10.68;ReadPosRankSum=1.242;SB=-796.19;TI=NM_139017;GI=IL31RA;FC=Synonymous_G483G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,59:134:99:1461,0,1655:53:99:0.440 chr5 56111751 rs28710284 G C 382.13 LowDP DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=57;MQ0=0;QD=27.29;SB=-196.01;TI=NM_005921;GI=MAP3K1;FC=Synonymous_A117A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,14:14:33.08:415,33,0:57:33:1.000 chr5 56152416 rs832567 C A 740.60 PASS BaseQRankSum=1.399;DP=52;Dels=0.00;FS=1.101;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=2.406;QD=14.24;ReadPosRankSum=0.261;SB=-512.34;TI=NM_005921;GI=MAP3K1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,31:52:99:771,0,534:54:99:0.596 chr5 56161787 rs832575 G A 2288.73 PASS DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=26.93;SB=-1651.52;TI=NM_005921;GI=MAP3K1;FC=Synonymous_T428T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2322,166,0:52:99:1.000 chr5 56177443 rs702689 G A 940.51 PASS BaseQRankSum=0.623;DP=48;Dels=0.00;FS=1.249;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.252;QD=19.59;ReadPosRankSum=-0.601;SB=-351.23;TI=NM_005921;GI=MAP3K1;FC=Missense_D806N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,32:48:99:971,0,476:57:99:0.667 chr5 56177743 rs832582 G A 6802.48 PASS DP=213;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3643;MQ=56;MQ0=0;QD=31.94;SB=-3519.53;TI=NM_005921;GI=MAP3K1;FC=Missense_V906I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,213:213:99:6802,506,0:56:99:1.000 chr5 56177848 rs34869245 TCAA T 9413.42 PASS DP=235;FS=0.000;HRun=0;HaplotypeScore=481.2471;MQ=55;MQ0=0;QD=40.06;SB=-4235.38;TI=NM_005921;GI=MAP3K1;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:52,175:235:99:9413,557,0:55:99:0.771 chr5 56178217 rs832583 A C 5483.98 PASS BaseQRankSum=0.219;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1209;MQ=58;MQ0=0;MQRankSum=0.614;QD=31.52;ReadPosRankSum=-0.191;SB=-3265.99;TI=NM_005921;GI=MAP3K1;FC=Synonymous_R1064R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,172:174:99:5484,369,0:58:99:0.989 chr5 56180480 rs3736430 A G 898.86 PASS BaseQRankSum=1.351;DP=73;Dels=0.00;FS=0.891;HRun=0;HaplotypeScore=1.9995;MQ=57;MQ0=0;MQRankSum=-0.628;QD=12.31;ReadPosRankSum=-0.717;SB=-699.34;TI=NM_005921;GI=MAP3K1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,41:73:99:929,0,822:57:99:0.562 chr5 58286625 rs1553114 C T 895.09 PASS DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6802;MQ=55;MQ0=0;QD=27.12;SB=-550.63;TI=NM_001197223,NM_001197222,NM_001197221,NM_001197220,NM_001197219,NM_006203,NM_001197218,NM_001104631,NM_001165899;GI=PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:66.22:928,66,0:55:66:1.000 chr5 58286737 . GA G 148.03 R8 BaseQRankSum=-1.973;DP=31;FS=1.441;HRun=13;HaplotypeScore=132.5028;MQ=55;MQ0=0;MQRankSum=0.395;QD=4.78;ReadPosRankSum=0.162;SB=-77.85;TI=NM_001197223,NM_001197222,NM_001197221,NM_001197220,NM_001197219,NM_006203,NM_001197218,NM_001104631,NM_001165899;GI=PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D,PDE4D;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,9:31:99:187,0,306:55:99:0.333 chr5 60170512 . TA T 33.62 LowVariantFreq;R8 BaseQRankSum=-1.758;DP=40;FS=3.086;HRun=12;HaplotypeScore=121.6512;MQ=52;MQ0=0;MQRankSum=0.222;QD=0.84;ReadPosRankSum=0.563;SB=-28.98;TI=NM_000082;GI=ERCC8;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,6:40:72.63:73,0,549:52:34:0.182 chr5 60241142 rs158921;rs79660491 G A 2355.34 PASS BaseQRankSum=-0.425;DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=53;MQ0=7;MQRankSum=3.185;QD=25.60;ReadPosRankSum=1.276;SB=-1410.46;TI=NM_174889;GI=NDUFAF2;FC=Synonymous_K20K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:9,83:92:99:2388,133,0:53:99:0.902 chr5 66195774 rs7711116 T C 1016.70 PASS BaseQRankSum=-0.772;DP=76;Dels=0.00;FS=1.927;HRun=0;HaplotypeScore=3.5489;MQ=50;MQ0=0;MQRankSum=0.233;QD=13.38;ReadPosRankSum=-2.420;SB=-662.45;TI=NM_198828,NM_001164664,NM_015183;GI=MAST4,MAST4,MAST4;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,45:76:99:1047,0,703:50:99:0.592 chr5 66427774 . A T 1009.68 PASS BaseQRankSum=-0.575;DP=75;Dels=0.00;FS=0.908;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.035;QD=13.46;ReadPosRankSum=-0.707;SB=-740.35;TI=NM_001164664,NM_015183;GI=MAST4,MAST4;FC=Synonymous_P696P,Synonymous_P507P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,47:75:99:1040,0,726:55:99:0.627 chr5 66459878 rs1705399 G C 3471.67 PASS DP=101;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5330;MQ=58;MQ0=0;QD=34.37;SB=-1955.27;TI=NM_001164664,NM_015183;GI=MAST4,MAST4;FC=Missense_R1624P,Missense_R1435P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:101:99:3472,259,0:58:99:1.000 chr5 67575548 rs61749601 T C 757.56 PASS BaseQRankSum=0.509;DP=61;Dels=0.00;FS=3.658;HRun=0;HaplotypeScore=1.8914;MQ=52;MQ0=0;MQRankSum=1.631;QD=12.42;ReadPosRankSum=-0.834;SB=-544.89;TI=NM_181523;GI=PIK3R1;FC=Synonymous_I207I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,37:61:99:788,0,561:52:99:0.607 chr5 68412048 rs34215592 A AT 3876.73 PASS DP=106;FS=0.000;HRun=2;HaplotypeScore=181.2662;MQ=57;MQ0=0;QD=36.57;SB=-894.76;TI=NM_022902;GI=SLC30A5;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,94:106:99:3877,289,0:57:99:0.979 chr5 68417643 rs164578 C T 2009.05 PASS BaseQRankSum=2.087;DP=160;Dels=0.00;FS=1.256;HRun=0;HaplotypeScore=4.5758;MQ=51;MQ0=0;MQRankSum=0.054;QD=12.56;ReadPosRankSum=-0.171;SB=-1397.94;TI=NM_022902;GI=SLC30A5;FC=Synonymous_H564H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,85:160:99:2039,0,1658:51:99:0.535 chr5 68419054 rs164572 A T 2170.16 PASS BaseQRankSum=2.164;DP=181;Dels=0.00;FS=1.163;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=1.335;QD=11.99;ReadPosRankSum=-1.338;SB=-1384.68;TI=NM_022902;GI=SLC30A5;FC=Synonymous_T600T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,92:181:99:2200,0,2139:54:99:0.508 chr5 68531253 rs2972388 C T 954.43 PASS BaseQRankSum=2.583;DP=97;Dels=0.00;FS=1.703;HRun=0;HaplotypeScore=1.8914;MQ=55;MQ0=0;MQRankSum=0.743;QD=9.84;ReadPosRankSum=1.053;SB=-466.11;TI=NM_001799;GI=CDK7;FC=Synonymous_N33N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,38:97:99:984,0,1525:55:99:0.392 chr5 68715605 . C A 5.46 LowGQX;LowGQ;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.804;QD=2.73;ReadPosRankSum=0.804;SB=-0.01;TI=NM_001038603;GI=MARVELD2;FC=Missense_N131K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:24.57:34,0,25:60:5:0.500 chr5 68720419 rs299099 T G 3287.01 PASS BaseQRankSum=1.644;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2144;MQ=55;MQ0=0;MQRankSum=-0.264;QD=27.86;ReadPosRankSum=0.822;SB=-1827.89;TI=NM_001038603;GI=MARVELD2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,117:118:99:3287,217,0:55:99:0.992 chr5 70308251 rs28409706 C T 3019.34 PASS DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5436;MQ=54;MQ0=0;QD=30.81;SB=-1862.53;TI=NM_022892,NM_004536;GI=NAIP,NAIP;FC=Silent,Synonymous_A164A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:98:99:3052,226,0:54:99:1.000 chr5 70308554 . C A 2832.95 PASS BaseQRankSum=0.210;DP=204;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4095;MQ=52;MQ0=0;MQRankSum=1.150;QD=13.89;ReadPosRankSum=0.131;SB=-1536.26;TI=NM_022892,NM_004536;GI=NAIP,NAIP;FC=Silent,Missense_R63S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,111:204:99:2863,0,2298:52:99:0.544 chr5 70945075 rs10064079 A G 999.59 PASS DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.30;SB=-668.76;TI=NM_022132;GI=MCCC2;FC=Synonymous_A456A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,38:38:72.24:1033,72,0:53:72:1.000 chr5 73981270 rs820878 T C 2977.12 PASS BaseQRankSum=1.592;DP=99;Dels=0.00;FS=4.025;HRun=0;HaplotypeScore=16.3327;MQ=54;MQ0=0;MQRankSum=1.417;QD=30.07;ReadPosRankSum=-0.892;SB=-1426.13;TI=NM_000521;GI=HEXB;FC=Missense_L62S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,98:99:99:3010,207,0:54:99:0.990 chr5 75923285 rs2431351 C T 1994.72 PASS DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=32.17;SB=-885.64;TI=NM_006633;GI=IQGAP2;FC=Synonymous_A524A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,62:62:99:2028,156,0:50:99:1.000 chr5 75923294 rs2431352 T G 1952.86 PASS DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=32.01;SB=-921.12;TI=NM_006633;GI=IQGAP2;FC=Missense_D527E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1986,150,0:50:99:1.000 chr5 75923307 rs2909888 A G 1516.01 PASS DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=32.96;SB=-713.16;TI=NM_006633;GI=IQGAP2;FC=Missense_K532E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:99:1549,117,0:53:99:1.000 chr5 75932869 rs2910819 C T 2263.84 PASS BaseQRankSum=-0.115;DP=90;Dels=0.00;FS=3.931;HRun=0;HaplotypeScore=0.9998;MQ=50;MQ0=0;MQRankSum=-0.693;QD=25.15;ReadPosRankSum=-0.231;SB=-1346.79;TI=NM_006633;GI=IQGAP2;FC=Synonymous_D597D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,89:90:99:2297,128,0:50:99:0.989 chr5 75932965 rs2455230 G C 2605.61 PASS BaseQRankSum=1.834;DP=100;Dels=0.00;FS=7.099;HRun=0;HaplotypeScore=1.8938;MQ=55;MQ0=0;MQRankSum=-0.037;QD=26.06;ReadPosRankSum=0.283;SB=-1614.58;TI=NM_006633;GI=IQGAP2;FC=Missense_L629F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,98:100:99:2639,129,0:55:99:0.980 chr5 75948650 rs2431363 A G 4791.66 PASS DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;QD=30.14;SB=-2799.29;TI=NM_006633;GI=IQGAP2;FC=Missense_I724V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,159:159:99:4792,346,0:52:99:1.000 chr5 75960865 rs253093 T C 1685.07 PASS DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=31.20;SB=-508.54;TI=NM_006633;GI=IQGAP2;FC=Synonymous_H848H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1718,126,0:58:99:1.000 chr5 76128521 rs616235 G A 164.11 LowGQ;LowDP DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=32.82;SB=-39.76;TI=NM_005242;GI=F2RL1;FC=Missense_S30N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:15.05:197,15,0:60:15:1.000 chr5 76129053 rs631465 T C 243.52 LowGQ;LowDP DP=8;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=60;MQ0=0;QD=30.44;SB=-79.90;TI=NM_005242;GI=F2RL1;FC=Synonymous_I207I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,8:8:21.07:276,21,0:60:21:1.000 chr5 76342479 . C A 3.13 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.537;DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.3265;MQ=58;MQ0=0;MQRankSum=-0.967;QD=0.26;ReadPosRankSum=1.182;SB=-0.01;TI=NM_018046;GI=AGGF1;FC=Missense_T393N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:30.22:30,0,359:58:3:0.167 chr5 76359024 rs34400049 C A 1509.78 PASS DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.96;SB=-912.02;TI=NM_018046;GI=AGGF1;FC=Missense_P698T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1543,114,0:52:99:1.000 chr5 76704849 rs186753 T C 1567.92 PASS DP=55;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.51;SB=-785.63;TI=NM_001029853,NM_001029854,NM_001029852,NM_003719,NM_001029851;GI=PDE8B,PDE8B,PDE8B,PDE8B,PDE8B;FC=Synonymous_P479P,Synonymous_P452P,Silent,Synonymous_P499P,Synonymous_P402P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1601,114,0:57:99:1.000 chr5 76708987 rs335614 A G 4930.49 PASS DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2478;MQ=53;MQ0=0;QD=27.54;SB=-3296.99;TI=NM_001029853,NM_001029854,NM_001029852,NM_003719,NM_001029851;GI=PDE8B,PDE8B,PDE8B,PDE8B,PDE8B;FC=Synonymous_E568E,Synonymous_E541E,Synonymous_E533E,Synonymous_E588E,Synonymous_E491E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,179:179:99:4930,352,0:53:99:1.000 chr5 77412011 rs42360 A G 4082.92 PASS DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=30.02;SB=-1831.57;TI=NM_003664;GI=AP3B1;FC=Synonymous_A672A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,136:136:99:4083,298,0:55:99:1.000 chr5 77425028 rs6453373 A T 2523.13 PASS DP=90;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=28.03;SB=-1628.13;TI=NM_003664;GI=AP3B1;FC=Missense_V585E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2556,184,0:54:99:1.000 chr5 77473165 rs4532349 A G 1122.06 PASS BaseQRankSum=2.383;DP=108;Dels=0.00;FS=4.725;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=2.186;QD=10.39;ReadPosRankSum=1.784;SB=-620.30;TI=NM_003664;GI=AP3B1;FC=Synonymous_N346N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,48:108:99:1152,0,1457:56:99:0.444 chr5 78181477 rs1065757 C T 2864.25 PASS DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9913;MQ=55;MQ0=0;QD=28.08;SB=-1564.53;TI=NM_000046,NM_198709;GI=ARSB,ARSB;FC=Missense_V358M,Missense_V358M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:102:99:2897,208,0:55:99:1.000 chr5 78181577 rs72762973 T C 1040.68 PASS BaseQRankSum=1.459;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=1.878;QD=11.69;ReadPosRankSum=1.796;SB=-573.54;TI=NM_000046,NM_198709;GI=ARSB,ARSB;FC=Synonymous_G324G,Synonymous_G324G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,42:89:99:1071,0,1065:56:99:0.472 chr5 78340257 rs248385 C G 2407.57 PASS DP=82;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=51;MQ0=0;QD=29.36;SB=-1471.13;TI=NM_013391;GI=DMGDH;FC=Synonymous_L288L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2441,181,0:51:99:1.000 chr5 78340286 rs532964 A G 2461.55 PASS DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3863;MQ=53;MQ0=0;QD=29.30;SB=-1257.34;TI=NM_013391;GI=DMGDH;FC=Missense_S279P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2495,184,0:53:99:1.000 chr5 78351636 rs2253262 A C 3713.23 PASS DP=123;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9997;MQ=56;MQ0=0;QD=30.19;SB=-1519.31;TI=NM_013391;GI=DMGDH;FC=Synonymous_G124G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:3713,271,0:56:99:1.000 chr5 79950781 rs1650697 A G 322.57 PASS BaseQRankSum=1.741;DP=28;Dels=0.00;FS=2.124;HRun=0;HaplotypeScore=3.4525;MQ=54;MQ0=0;MQRankSum=0.534;QD=11.52;ReadPosRankSum=-0.023;SB=-28.61;TI=NM_000791,NM_002439;GI=DHFR,MSH3;FC=Silent,Missense_I79V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,12:28:99:353,0,422:54:99:0.429 chr5 80149981 rs184967 A G 1242.92 PASS DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48;MQ0=0;QD=25.89;SB=-823.22;TI=NM_002439;GI=MSH3;FC=Missense_Q949R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:90.30:1276,90,0:48:90:1.000 chr5 80168937 rs26279 G A 4282.62 PASS DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=31.03;SB=-2659.92;TI=NM_002439;GI=MSH3;FC=Missense_A1045T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:138:99:4283,313,0:55:99:1.000 chr5 82786194 rs12332199 T C 1043.61 PASS BaseQRankSum=2.046;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6214;MQ=57;MQ0=0;MQRankSum=1.296;QD=15.35;ReadPosRankSum=0.129;SB=-205.06;TI=NM_001164098,NM_001164097,NM_004385,NM_001126336;GI=VCAN,VCAN,VCAN,VCAN;FC=Synonymous_T116T,Synonymous_T116T,Synonymous_T116T,Synonymous_T116T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,36:68:99:1074,0,881:57:99:0.529 chr5 82789647 rs4470745 A G 1361.83 PASS BaseQRankSum=1.224;DP=128;Dels=0.00;FS=0.658;HRun=2;HaplotypeScore=6.3363;MQ=56;MQ0=0;MQRankSum=1.214;QD=10.64;ReadPosRankSum=1.300;SB=-827.27;TI=NM_001164098,NM_001164097,NM_004385,NM_001126336;GI=VCAN,VCAN,VCAN,VCAN;FC=Synonymous_V215V,Synonymous_V215V,Synonymous_V215V,Synonymous_V215V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,59:128:99:1392,0,1759:56:99:0.461 chr5 82833145 rs2548541 G A 10058.91 PASS DP=344;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.5173;MQ=56;MQ0=0;QD=29.24;SB=-5497.82;TI=NM_001164098,NM_001164097,NM_004385,NM_001126336;GI=VCAN,VCAN,VCAN,VCAN;FC=Silent,Synonymous_Q454Q,Synonymous_Q1441Q,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,343:344:99:10059,728,0:56:99:1.000 chr5 82833369 rs309559 A G 3674.85 PASS BaseQRankSum=1.225;DP=233;Dels=0.00;FS=2.939;HRun=0;HaplotypeScore=14.0249;MQ=57;MQ0=0;MQRankSum=0.683;QD=15.77;ReadPosRankSum=0.455;SB=-2071.34;TI=NM_001164098,NM_001164097,NM_004385,NM_001126336;GI=VCAN,VCAN,VCAN,VCAN;FC=Silent,Missense_K529R,Missense_K1516R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,129:233:99:3675,0,2967:57:99:0.556 chr5 82833391 rs16900528 A G 3802.40 PASS BaseQRankSum=0.316;DP=242;Dels=0.00;FS=2.212;HRun=1;HaplotypeScore=13.1395;MQ=58;MQ0=0;MQRankSum=0.941;QD=15.71;ReadPosRankSum=1.224;SB=-1952.98;TI=NM_001164098,NM_001164097,NM_004385,NM_001126336;GI=VCAN,VCAN,VCAN,VCAN;FC=Silent,Synonymous_T536T,Synonymous_T1523T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,132:242:99:3802,0,3065:58:99:0.545 chr5 82834630 rs309557 T C 4640.20 PASS BaseQRankSum=3.161;DP=414;Dels=0.00;FS=3.173;HRun=0;HaplotypeScore=11.6449;MQ=58;MQ0=0;MQRankSum=2.452;QD=11.21;ReadPosRankSum=-0.707;SB=-2726.34;TI=NM_001164098,NM_001164097,NM_004385,NM_001126336;GI=VCAN,VCAN,VCAN,VCAN;FC=Silent,Synonymous_G949G,Synonymous_G1936G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:228,186:414:99:4640,0,5645:58:99:0.449 chr5 82835545 rs160279 A G 3200.92 PASS BaseQRankSum=0.685;DP=250;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.3848;MQ=56;MQ0=0;MQRankSum=2.027;QD=12.80;ReadPosRankSum=-0.786;SB=-1808.56;TI=NM_001164098,NM_001164097,NM_004385,NM_001126336;GI=VCAN,VCAN,VCAN,VCAN;FC=Silent,Synonymous_R1254R,Synonymous_R2241R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,128:250:99:3231,0,2853:56:99:0.512 chr5 82835724 rs160278 T A 2527.49 PASS BaseQRankSum=0.944;DP=182;Dels=0.00;FS=2.625;HRun=0;HaplotypeScore=7.3637;MQ=54;MQ0=0;MQRankSum=0.636;QD=13.89;ReadPosRankSum=-1.783;SB=-1621.90;TI=NM_001164098,NM_001164097,NM_004385,NM_001126336;GI=VCAN,VCAN,VCAN,VCAN;FC=Silent,Missense_F1314Y,Missense_F2301Y,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,99:182:99:2557,0,2157:54:99:0.544 chr5 82841476 rs695103 T C 880.48 PASS BaseQRankSum=0.625;DP=52;Dels=0.00;FS=4.738;HRun=0;HaplotypeScore=3.7603;MQ=55;MQ0=0;MQRankSum=0.163;QD=16.93;ReadPosRankSum=1.202;SB=-355.00;TI=NM_001164098,NM_001164097,NM_004385,NM_001126336;GI=VCAN,VCAN,VCAN,VCAN;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,34:52:99:910,0,495:55:99:0.654 chr5 82875800 rs308365 C T 1319.49 PASS DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=31.42;SB=-444.55;TI=NM_001164098,NM_001164097,NM_004385,NM_001126336;GI=VCAN,VCAN,VCAN,VCAN;FC=Unknown_1540,Unknown_2307,Unknown_3294,Unknown_553;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:99:1352,99,0:57:99:1.000 chr5 89914925 rs41311333 T G 657.23 PASS BaseQRankSum=-0.030;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.256;QD=13.41;ReadPosRankSum=-1.337;SB=-437.69;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_L127R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,27:49:99:687,0,633:55:99:0.551 chr5 89923411 . G A 1987.10 PASS BaseQRankSum=1.793;DP=157;Dels=0.00;FS=0.642;HRun=0;HaplotypeScore=2.7605;MQ=56;MQ0=0;MQRankSum=3.481;QD=12.66;ReadPosRankSum=2.288;SB=-820.26;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_P352P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,80:157:99:2017,0,2035:56:99:0.510 chr5 89938587 rs2366773 C T 892.20 PASS BaseQRankSum=1.931;DP=69;Dels=0.00;FS=3.329;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=0.199;QD=12.93;ReadPosRankSum=1.113;SB=-506.47;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,37:69:99:922,0,788:56:99:0.536 chr5 89943571 rs2366777 G T 488.28 PASS BaseQRankSum=-0.054;DP=33;Dels=0.00;FS=1.830;HRun=2;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-0.450;QD=14.80;ReadPosRankSum=-0.847;SB=-138.04;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_L1093F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,17:33:99:518,0,513:58:99:0.515 chr5 89953849 rs17543819 C T 2598.84 PASS BaseQRankSum=3.285;DP=230;Dels=0.00;FS=1.612;HRun=0;HaplotypeScore=10.0057;MQ=58;MQ0=0;MQRankSum=-1.190;QD=11.30;ReadPosRankSum=0.379;SB=-1565.62;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_P1502P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,101:230:99:2629,0,3571:58:99:0.439 chr5 89979518 rs17544552 C T 2259.90 PASS BaseQRankSum=3.523;DP=176;Dels=0.00;FS=1.907;HRun=0;HaplotypeScore=5.5730;MQ=55;MQ0=0;MQRankSum=2.590;QD=12.84;ReadPosRankSum=2.360;SB=-1068.12;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_T1927M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,85:176:99:2290,0,2378:55:99:0.483 chr5 89979589 rs4916684 G A 3158.18 PASS BaseQRankSum=0.579;DP=215;Dels=0.00;FS=0.510;HRun=1;HaplotypeScore=11.5571;MQ=57;MQ0=0;MQRankSum=1.044;QD=14.69;ReadPosRankSum=-2.140;SB=-1627.20;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_V1951I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,119:215:99:3188,0,2376:57:99:0.553 chr5 89990324 rs1878878 A G 3680.37 PASS BaseQRankSum=0.302;DP=280;Dels=0.00;FS=2.097;HRun=0;HaplotypeScore=9.1520;MQ=52;MQ0=0;MQRankSum=1.867;QD=13.14;ReadPosRankSum=-1.384;SB=-1588.94;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_N2584S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,143:280:99:3680,0,3549:52:99:0.513 chr5 89990379 . C G 2945.02 PASS BaseQRankSum=1.566;DP=240;Dels=0.00;FS=1.667;HRun=0;HaplotypeScore=13.1072;MQ=52;MQ0=0;MQRankSum=0.403;QD=12.27;ReadPosRankSum=1.545;SB=-1238.68;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_P2602P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,117:240:99:2975,0,3031:52:99:0.494 chr5 90002220 rs71614763 C CT 229.06 R8 BaseQRankSum=1.550;DP=49;FS=2.834;HRun=12;HaplotypeScore=171.7037;MQ=55;MQ0=0;MQRankSum=0.275;QD=4.67;ReadPosRankSum=1.506;SB=-98.98;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,13:49:99:268,0,501:55:99:0.333 chr5 90024735 rs2366928 G A 389.34 PASS BaseQRankSum=0.960;DP=37;Dels=0.00;FS=5.639;HRun=4;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=0.076;QD=10.52;ReadPosRankSum=-0.899;SB=-251.42;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_E3471K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,17:37:99:419,0,577:59:99:0.459 chr5 90052372 rs2438349 C T 942.14 PASS BaseQRankSum=-1.965;DP=90;Dels=0.00;FS=1.741;HRun=0;HaplotypeScore=0.0000;MQ=49;MQ0=0;MQRankSum=0.456;QD=10.47;ReadPosRankSum=-1.538;SB=-650.30;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_P3894P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,44:90:99:972,0,1031:49:99:0.489 chr5 90079820 rs17554631 A G 3582.65 PASS BaseQRankSum=1.070;DP=136;Dels=0.00;FS=3.604;HRun=0;HaplotypeScore=9.3112;MQ=53;MQ0=0;MQRankSum=-1.554;QD=26.34;ReadPosRankSum=1.146;SB=-2239.84;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_T4533T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,135:136:99:3583,219,0:53:99:0.993 chr5 90107108 rs2438374 A G 1467.38 PASS DP=46;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=31.90;SB=-481.01;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_E5344G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:99:1500,114,0:54:99:1.000 chr5 90119324 rs2438378 G A 6072.27 PASS DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5761;MQ=56;MQ0=0;QD=29.33;SB=-3311.76;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_V5427M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,207:207:99:6072,439,0:56:99:1.000 chr5 90151589 rs2247870 G A 928.75 PASS DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=30.96;SB=-586.90;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_V5876I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,30:30:72.23:962,72,0:58:72:1.000 chr5 90449031 rs7726023 T C 567.80 PASS BaseQRankSum=-0.204;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7878;MQ=55;MQ0=0;MQRankSum=2.049;QD=11.36;ReadPosRankSum=-1.194;SB=-408.70;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,26:50:99:598,0,493:55:99:0.520 chr5 92920856 . C A 9.30 LowGQX;LowGQ;LowDP BaseQRankSum=1.231;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=32;MQ0=0;MQRankSum=1.231;QD=1.86;ReadPosRankSum=0.358;SB=-30.97;TI=NM_005654;GI=NR2F1;FC=Missense_Q43K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,2:5:27.42:39,0,27:32:9:0.400 chr5 94826655 rs2303650 C A 1082.48 PASS BaseQRankSum=0.288;DP=106;Dels=0.00;FS=0.729;HRun=0;HaplotypeScore=1.8835;MQ=50;MQ0=0;MQRankSum=-0.737;QD=10.21;ReadPosRankSum=-1.554;SB=-814.20;TI=NM_014639;GI=TTC37;FC=Missense_R1296S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,50:106:99:1112,0,1400:50:99:0.472 chr5 94833109 rs10055673 C T 976.36 PASS BaseQRankSum=1.508;DP=83;Dels=0.00;FS=0.860;HRun=0;HaplotypeScore=4.6544;MQ=54;MQ0=0;MQRankSum=0.360;QD=11.76;ReadPosRankSum=-0.305;SB=-550.35;TI=NM_014639;GI=TTC37;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,40:83:99:1006,0,1146:54:99:0.482 chr5 94861118 rs17084873 G C 1353.69 PASS BaseQRankSum=1.898;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=50;MQ0=0;MQRankSum=0.484;QD=15.38;ReadPosRankSum=2.147;SB=-867.92;TI=NM_014639;GI=TTC37;FC=Missense_L437V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,54:88:99:1384,0,761:50:99:0.614 chr5 95733112 rs6233 A G 3112.83 PASS BaseQRankSum=3.073;DP=251;Dels=0.00;FS=2.819;HRun=0;HaplotypeScore=5.3645;MQ=53;MQ0=0;MQRankSum=1.942;QD=12.40;ReadPosRankSum=0.867;SB=-2214.00;TI=NM_001177876,NM_001177875,NM_000439;GI=PCSK1,PCSK1,PCSK1;FC=Synonymous_N240N,Synonymous_N503N,Synonymous_N550N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,131:251:99:3143,0,2675:53:99:0.524 chr5 96093352 . A T 21.78 LowVariantFreq;SB BaseQRankSum=-3.208;DP=43;Dels=0.00;FS=8.402;HRun=1;HaplotypeScore=69.0499;MQ=44;MQ0=0;MQRankSum=-3.142;QD=0.51;ReadPosRankSum=1.628;SB=-0.01;TI=NM_001190442,NM_001042440,NM_173060,NR_033798;GI=CAST,CAST,CAST,CAST;FC=Synonymous_S513S,Synonymous_S568S,Synonymous_S504S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,8:43:51.74:52,0,884:44:22:0.195 chr5 96093356 . C T 10.25 SB BaseQRankSum=-3.512;DP=43;Dels=0.00;FS=8.669;HRun=2;HaplotypeScore=55.7696;MQ=44;MQ0=0;MQRankSum=-3.165;QD=0.24;ReadPosRankSum=2.410;SB=-0.01;TI=NM_001190442,NM_001042440,NM_173060,NR_033798;GI=CAST,CAST,CAST,CAST;FC=Missense_L515F,Missense_L570F,Missense_L506F,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,9:43:39.81:40,0,874:44:10:0.220 chr5 96116808 rs17481856 G A 882.21 PASS BaseQRankSum=0.985;DP=66;Dels=0.00;FS=4.981;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.097;QD=13.37;ReadPosRankSum=0.560;SB=-406.94;TI=NM_016442,NM_001040458,NM_001198541;GI=ERAP1,ERAP1,ERAP1;FC=Synonymous_L848L,Synonymous_L848L,Synonymous_L848L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,36:66:99:912,0,740:57:99:0.545 chr5 96127833 rs3213809 G A 2053.10 PASS BaseQRankSum=-1.235;DP=187;Dels=0.00;FS=1.931;HRun=0;HaplotypeScore=7.2418;MQ=54;MQ0=0;MQRankSum=3.318;QD=10.98;ReadPosRankSum=2.009;SB=-1047.09;TI=NM_016442,NM_001040458,NM_001198541;GI=ERAP1,ERAP1,ERAP1;FC=Synonymous_H417H,Synonymous_H417H,Synonymous_H417H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,89:187:99:2083,0,2659:54:99:0.476 chr5 96127905 rs27640 T C 1522.26 PASS BaseQRankSum=0.186;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5456;MQ=57;MQ0=0;MQRankSum=2.030;QD=10.01;ReadPosRankSum=-1.355;SB=-913.76;TI=NM_016442,NM_001040458,NM_001198541;GI=ERAP1,ERAP1,ERAP1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,62:152:99:1552,0,2343:57:99:0.408 chr5 96129512 rs27434 A G 693.37 PASS BaseQRankSum=0.738;DP=53;Dels=0.00;FS=4.058;HRun=1;HaplotypeScore=2.9991;MQ=57;MQ0=0;MQRankSum=2.126;QD=13.08;ReadPosRankSum=0.774;SB=-379.95;TI=NM_016442,NM_001040458,NM_001198541;GI=ERAP1,ERAP1,ERAP1;FC=Synonymous_A356A,Synonymous_A356A,Synonymous_A356A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,27:53:99:723,0,764:57:99:0.509 chr5 96139250 rs26653 C G 585.81 PASS BaseQRankSum=0.471;DP=36;Dels=0.00;FS=1.972;HRun=5;HaplotypeScore=0.9159;MQ=57;MQ0=0;MQRankSum=0.081;QD=16.27;ReadPosRankSum=1.444;SB=-105.72;TI=NM_016442,NM_001040458,NM_001198541;GI=ERAP1,ERAP1,ERAP1;FC=Missense_R127P,Missense_R127P,Missense_R127P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,22:36:99:616,0,414:57:99:0.611 chr5 96139595 rs72773968 G A 857.60 PASS BaseQRankSum=-0.926;DP=49;Dels=0.00;FS=1.567;HRun=0;HaplotypeScore=3.9727;MQ=58;MQ0=0;MQRankSum=-0.295;QD=17.50;ReadPosRankSum=-1.353;SB=-136.54;TI=NM_016442,NM_001040458,NM_001198541;GI=ERAP1,ERAP1,ERAP1;FC=Missense_T12I,Missense_T12I,Missense_T12I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,29:49:99:888,0,500:58:99:0.592 chr5 96231000 rs2549782 G T 3342.73 PASS DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7227;MQ=50;MQ0=0;QD=27.63;SB=-2294.56;TI=NM_001130140,NM_022350;GI=ERAP2,ERAP2;FC=Missense_K392N,Missense_K392N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3343,244,0:50:99:1.000 chr5 96232142 rs2548538 T A 1590.29 PASS DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7776;MQ=51;MQ0=0;QD=30.01;SB=-975.54;TI=NM_001130140,NM_022350;GI=ERAP2,ERAP2;FC=Synonymous_P435P,Synonymous_P435P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1623,123,0:51:99:1.000 chr5 96235896 rs2248374 A G 4568.54 PASS DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7829;MQ=52;MQ0=0;QD=27.36;SB=-2515.62;TI=NM_001130140,NM_022350;GI=ERAP2,ERAP2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:167:99:4569,325,0:52:99:1.000 chr5 96237326 rs2287988 G A 4851.61 PASS BaseQRankSum=-0.040;DP=175;Dels=0.00;FS=2.420;HRun=1;HaplotypeScore=9.9812;MQ=53;MQ0=0;MQRankSum=-1.305;QD=27.72;ReadPosRankSum=-2.236;SB=-2753.27;TI=NM_001130140,NM_022350;GI=ERAP2,ERAP2;FC=Synonymous_Q563Q,Synonymous_Q563Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,172:175:99:4852,276,0:53:99:0.983 chr5 96245343 rs2549796 C T 5006.77 PASS BaseQRankSum=0.812;DP=187;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=54;MQ0=0;MQRankSum=-1.842;QD=26.77;ReadPosRankSum=1.129;SB=-3220.94;TI=NM_001130140,NM_022350;GI=ERAP2,ERAP2;FC=Synonymous_G743G,Synonymous_G743G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,184:187:99:5007,319,0:54:99:0.989 chr5 96245439 rs1056893 C T 4797.10 PASS BaseQRankSum=0.405;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8884;MQ=53;MQ0=0;MQRankSum=-0.652;QD=31.15;ReadPosRankSum=-0.697;SB=-2773.91;TI=NM_001130140,NM_022350;GI=ERAP2,ERAP2;FC=Synonymous_S775S,Synonymous_S775S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,153:154:99:4797,318,0:53:99:0.994 chr5 96249115 rs2255546 C T 2612.19 PASS DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=29.35;SB=-1348.44;TI=NM_001130140,NM_022350;GI=ERAP2,ERAP2;FC=Synonymous_L871L,Synonymous_L871L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2645,190,0:57:99:1.000 chr5 110439509 rs11241095 A G 1017.18 PASS BaseQRankSum=1.344;DP=90;Dels=0.00;FS=0.778;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=3.160;QD=11.30;ReadPosRankSum=0.391;SB=-675.07;TI=NM_139281;GI=WDR36;FC=Missense_I264V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,44:90:99:1047,0,1118:53:99:0.489 chr5 110456704 rs13186912 A T 729.25 PASS BaseQRankSum=-0.850;DP=54;Dels=0.00;FS=4.032;HRun=1;HaplotypeScore=0.9998;MQ=59;MQ0=0;MQRankSum=-0.312;QD=13.50;ReadPosRankSum=1.561;SB=-422.57;TI=NM_139281;GI=WDR36;FC=Synonymous_V727V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,29:54:99:759,0,675:59:99:0.537 chr5 110784822 rs2116824 A G 1418.46 PASS BaseQRankSum=-1.291;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=-0.787;QD=25.79;ReadPosRankSum=-1.354;SB=-950.17;TI=NM_001744;GI=CAMK4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,54:55:67.71:1451,68,0:56:68:0.982 chr5 110819753 rs25925 G C 3201.17 PASS BaseQRankSum=0.308;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4820;MQ=56;MQ0=0;MQRankSum=-0.599;QD=29.92;ReadPosRankSum=0.858;SB=-1352.94;TI=NM_001744;GI=CAMK4;FC=Synonymous_S337S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,106:107:99:3234,203,0:56:99:0.991 chr5 112162854 rs2229992 T C 1340.25 PASS DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=54;MQ0=0;QD=27.35;SB=-899.44;TI=NM_001127511,NM_001127510,NM_000038;GI=APC,APC,APC;FC=Synonymous_Y468Y,Synonymous_Y486Y,Synonymous_Y486Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1373,99,0:54:99:1.000 chr5 112164561 rs351771 G A 1684.06 PASS DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.04;SB=-1067.05;TI=NM_001127511,NM_001127510,NM_000038;GI=APC,APC,APC;FC=Synonymous_A527A,Synonymous_A545A,Synonymous_A545A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1717,123,0:56:99:1.000 chr5 112175770 rs41115 G A 3987.82 PASS DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=58;MQ0=0;QD=33.80;SB=-1875.23;TI=NM_001127511,NM_001127510,NM_000038;GI=APC,APC,APC;FC=Synonymous_T1475T,Synonymous_T1493T,Synonymous_T1493T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,118:118:99:3988,298,0:58:99:1.000 chr5 112176325 rs42427 G A 4356.26 PASS DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9970;MQ=56;MQ0=0;QD=29.84;SB=-2298.85;TI=NM_001127511,NM_001127510,NM_000038;GI=APC,APC,APC;FC=Synonymous_G1660G,Synonymous_G1678G,Synonymous_G1678G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:4356,322,0:56:99:1.000 chr5 112176559 rs866006 T G 6294.60 PASS DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6709;MQ=56;MQ0=0;QD=29.83;SB=-4056.98;TI=NM_001127511,NM_001127510,NM_000038;GI=APC,APC,APC;FC=Synonymous_S1738S,Synonymous_S1756S,Synonymous_S1756S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,211:211:99:6295,454,0:56:99:1.000 chr5 112176756 rs459552 T A 6164.07 PASS DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8163;MQ=56;MQ0=0;QD=29.63;SB=-3872.92;TI=NM_001127511,NM_001127510,NM_000038;GI=APC,APC,APC;FC=Missense_V1804D,Missense_V1822D,Missense_V1822D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,208:208:99:6164,448,0:56:99:1.000 chr5 112177171 rs465899 G A 7982.19 PASS DP=271;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.1028;MQ=57;MQ0=0;QD=29.45;SB=-5271.71;TI=NM_001127511,NM_001127510,NM_000038;GI=APC,APC,APC;FC=Synonymous_P1942P,Synonymous_P1960P,Synonymous_P1960P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,270:271:99:7982,575,0:57:99:1.000 chr5 112178795 rs2229995 G A 2559.22 PASS BaseQRankSum=2.654;DP=232;Dels=0.00;FS=6.576;HRun=0;HaplotypeScore=12.8907;MQ=51;MQ0=0;MQRankSum=-1.864;QD=11.03;ReadPosRankSum=-2.560;SB=-1484.97;TI=NM_001127511,NM_001127510,NM_000038;GI=APC,APC,APC;FC=Missense_G2484S,Missense_G2502S,Missense_G2502S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:128,104:232:99:2589,0,3272:51:99:0.448 chr5 118484804 rs7734532 G A 2311.06 PASS BaseQRankSum=0.777;DP=208;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5628;MQ=53;MQ0=0;MQRankSum=2.410;QD=11.11;ReadPosRankSum=-1.022;SB=-1486.46;TI=NM_005509;GI=DMXL1;FC=Synonymous_E1094E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,95:208:99:2341,0,2896:53:99:0.457 chr5 121413208 rs1800449 C T 2091.57 PASS BaseQRankSum=2.164;DP=213;Dels=0.00;FS=4.049;HRun=0;HaplotypeScore=8.3872;MQ=54;MQ0=0;MQRankSum=1.372;QD=9.82;ReadPosRankSum=-0.220;SB=-980.14;TI=NM_002317;GI=LOX;FC=Missense_R158Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,88:213:99:2122,0,3212:54:99:0.413 chr5 121413456 rs2278226 G C 389.89 PASS BaseQRankSum=-0.885;DP=45;Dels=0.00;FS=4.519;HRun=1;HaplotypeScore=5.7215;MQ=54;MQ0=0;MQRankSum=-0.517;QD=8.66;ReadPosRankSum=-0.747;SB=-270.59;TI=NM_002317;GI=LOX;FC=Synonymous_A75A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,19:45:99:420,0,790:54:99:0.422 chr5 121786403 rs28937592 C T 2745.68 PASS BaseQRankSum=0.358;DP=211;Dels=0.00;FS=5.914;HRun=0;HaplotypeScore=11.6636;MQ=57;MQ0=0;MQRankSum=0.265;QD=13.01;ReadPosRankSum=0.252;SB=-1428.08;TI=NM_005460;GI=SNCAIP;FC=Missense_R621C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,101:211:99:2776,0,3088:57:99:0.479 chr5 126667126 rs10519949 T C 800.15 PASS BaseQRankSum=0.580;DP=64;Dels=0.00;FS=3.539;HRun=0;HaplotypeScore=8.3521;MQ=52;MQ0=0;MQRankSum=2.090;QD=12.50;ReadPosRankSum=-0.486;SB=-321.45;TI=NM_032446;GI=MEGF10;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,29:64:99:830,0,821:52:99:0.453 chr5 126674869 rs12654455 G A 1438.66 PASS BaseQRankSum=3.060;DP=125;Dels=0.00;FS=0.661;HRun=1;HaplotypeScore=3.6789;MQ=50;MQ0=0;MQRankSum=-1.277;QD=11.51;ReadPosRankSum=-0.284;SB=-975.56;TI=NM_032446;GI=MEGF10;FC=Synonymous_T58T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,64:125:99:1469,0,1478:50:99:0.512 chr5 126732399 rs3812055 G A 1356.71 PASS BaseQRankSum=1.242;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=2.374;QD=11.03;ReadPosRankSum=0.744;SB=-888.71;TI=NM_032446;GI=MEGF10;FC=Synonymous_Q196Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,56:123:99:1387,0,1643:55:99:0.455 chr5 126734365 rs6595769 C T 791.02 PASS BaseQRankSum=-0.061;DP=90;Dels=0.00;FS=2.897;HRun=1;HaplotypeScore=9.3579;MQ=52;MQ0=0;MQRankSum=0.061;QD=8.79;ReadPosRankSum=-0.378;SB=-594.74;TI=NM_032446;GI=MEGF10;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,40:90:99:821,0,1233:52:99:0.444 chr5 126746277 rs31483 C T 3520.37 PASS DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=28.86;SB=-1675.47;TI=NM_032446;GI=MEGF10;FC=Synonymous_L372L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3520,253,0:55:99:1.000 chr5 126769146 rs11950427 T C 2458.52 PASS BaseQRankSum=-0.244;DP=229;Dels=0.00;FS=1.027;HRun=4;HaplotypeScore=12.6412;MQ=56;MQ0=0;MQRankSum=2.153;QD=10.74;ReadPosRankSum=0.763;SB=-1648.77;TI=NM_032446;GI=MEGF10;FC=Synonymous_P595P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,105:229:99:2489,0,2979:56:99:0.461 chr5 126791256 rs56157640 G A 2133.23 PASS BaseQRankSum=4.882;DP=176;Dels=0.00;FS=1.878;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.274;QD=12.12;ReadPosRankSum=1.401;SB=-1340.13;TI=NM_032446;GI=MEGF10;FC=Synonymous_E1063E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,90:176:99:2163,0,2127:54:99:0.511 chr5 126792974 rs3812052 T A 1437.11 PASS BaseQRankSum=1.793;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2418;MQ=54;MQ0=0;MQRankSum=1.559;QD=11.32;ReadPosRankSum=1.486;SB=-985.15;TI=NM_032446;GI=MEGF10;FC=Synonymous_G1129G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,62:127:99:1467,0,1460:54:99:0.492 chr5 127614472 rs190450 A G 2239.00 PASS BaseQRankSum=0.411;DP=243;Dels=0.00;FS=2.870;HRun=0;HaplotypeScore=6.5375;MQ=54;MQ0=0;MQRankSum=2.889;QD=9.21;ReadPosRankSum=1.091;SB=-1577.32;TI=NM_001999;GI=FBN2;FC=Synonymous_S2400S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:140,103:243:99:2269,0,3165:54:99:0.424 chr5 127640783 rs60746914 G A 851.18 PASS BaseQRankSum=-0.218;DP=66;Dels=0.00;FS=4.895;HRun=7;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-1.028;QD=12.90;ReadPosRankSum=-0.051;SB=-487.03;TI=NM_001999;GI=FBN2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,35:66:99:881,0,754:58:99:0.530 chr5 127685135 rs154001 C T 1756.91 PASS BaseQRankSum=0.539;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8937;MQ=51;MQ0=0;MQRankSum=1.669;QD=10.46;ReadPosRankSum=-0.089;SB=-1360.49;TI=NM_001999;GI=FBN2;FC=Missense_V965I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,83:168:99:1787,0,1867:51:99:0.494 chr5 131396478 rs40401 C T 1202.97 PASS DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=29.34;SB=-718.22;TI=NM_000588;GI=IL3;FC=Missense_P27S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:90.30:1236,90,0:58:90:1.000 chr5 131411460 rs25882 T C 718.80 PASS BaseQRankSum=0.040;DP=72;Dels=0.00;FS=1.945;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.814;QD=9.98;ReadPosRankSum=-1.230;SB=-409.99;TI=NM_000758;GI=CSF2;FC=Missense_I117T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,28:72:99:749,0,1088:57:99:0.389 chr5 131667548 rs2304081 G A 1555.27 PASS BaseQRankSum=-0.038;DP=112;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6717;MQ=54;MQ0=0;MQRankSum=0.297;QD=13.89;ReadPosRankSum=-1.761;SB=-1005.70;TI=NM_003059;GI=SLC22A4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,64:112:99:1585,0,1181:54:99:0.571 chr5 131705949 rs2631365;rs61742215 T C 1800.86 PASS DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0704;MQ=56;MQ0=0;QD=31.05;SB=-1003.90;TI=NM_003060;GI=SLC22A5;FC=Synonymous_L95L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1834,135,0:56:99:1.000 chr5 131719999 rs4551059 A G 2049.77 PASS DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.08;SB=-1065.01;TI=NM_003060;GI=SLC22A5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2083,150,0:57:99:1.000 chr5 131721174 rs274558 A G 2961.60 PASS DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7591;MQ=49;MQ0=0;QD=26.44;SB=-2048.32;TI=NM_003060;GI=SLC22A5;FC=Synonymous_L269L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:2995,214,0:49:99:1.000 chr5 131822055 rs9282762 T C 2339.52 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.20;SB=-1586.84;TI=NM_002198;GI=IRF1;FC=Synonymous_P185P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2373,172,0:54:99:1.000 chr5 131822072 rs2070724 A G 2033.76 PASS DP=73;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.86;SB=-1320.18;TI=NM_002198;GI=IRF1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2067,150,0:53:99:1.000 chr5 131995964 rs20541 A G 2090.63 PASS DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=56;MQ0=0;QD=32.16;SB=-1192.86;TI=NM_002188;GI=IL13;FC=Missense_Q144R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:2124,157,0:56:99:1.000 chr5 132009787 rs2243251 A G 1211.06 PASS BaseQRankSum=-0.408;DP=134;Dels=0.00;FS=5.373;HRun=1;HaplotypeScore=2.8937;MQ=53;MQ0=0;MQRankSum=1.031;QD=9.04;ReadPosRankSum=0.668;SB=-740.65;TI=NM_172348,NM_000589;GI=IL4,IL4;FC=Synonymous_L15L,Synonymous_L15L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,59:134:99:1241,0,1729:53:99:0.440 chr5 132018169 rs2243290 C A 1020.23 PASS BaseQRankSum=2.533;DP=71;Dels=0.00;FS=6.425;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=1.866;QD=14.37;ReadPosRankSum=-1.105;SB=-546.38;TI=NM_172348,NM_000589;GI=IL4,IL4;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,42:71:99:1050,0,664:56:99:0.592 chr5 132198100 rs10491279 C T 2899.28 PASS BaseQRankSum=2.028;DP=244;Dels=0.00;FS=4.044;HRun=1;HaplotypeScore=8.1251;MQ=56;MQ0=0;MQRankSum=3.516;QD=11.88;ReadPosRankSum=0.490;SB=-903.31;TI=NM_005260;GI=GDF9;FC=Synonymous_E182E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,108:244:99:2929,0,3623:56:99:0.443 chr5 132198199 rs254286 G A 1677.38 PASS BaseQRankSum=1.694;DP=98;Dels=0.00;FS=0.918;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=-1.499;QD=17.12;ReadPosRankSum=-0.612;SB=-607.22;TI=NM_005260;GI=GDF9;FC=Synonymous_T149T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,62:98:99:1707,0,950:56:99:0.639 chr5 133948372 . G A 30.49 SB;LowDP BaseQRankSum=-1.214;DP=10;Dels=0.00;FS=15.563;HRun=40;HaplotypeScore=0.0000;MQ=38;MQ0=0;MQRankSum=-1.580;QD=3.05;ReadPosRankSum=-2.166;SB=-2.04;TI=NM_016103,NM_001033503;GI=SAR1B,SAR1B;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,3:10:60.48:60,0,224:38:30:0.300 chr5 133956668 rs11558540 G A 1971.38 PASS BaseQRankSum=1.113;DP=160;Dels=0.00;FS=5.659;HRun=1;HaplotypeScore=2.9993;MQ=49;MQ0=0;MQRankSum=-1.223;QD=12.32;ReadPosRankSum=-0.618;SB=-1349.16;TI=NM_016103,NM_001033503;GI=SAR1B,SAR1B;FC=Synonymous_L45L,Synonymous_L45L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,83:160:99:2001,0,1912:49:99:0.519 chr5 134343799 rs177252 A G 1525.43 PASS BaseQRankSum=1.906;DP=152;Dels=0.00;FS=2.086;HRun=1;HaplotypeScore=6.5675;MQ=54;MQ0=0;MQRankSum=1.805;QD=10.04;ReadPosRankSum=1.716;SB=-965.71;TI=NM_178019;GI=CATSPER3;FC=Synonymous_A215A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,72:152:99:1555,0,1787:54:99:0.477 chr5 134364518 rs479632 C G 1186.24 PASS BaseQRankSum=-0.004;DP=87;Dels=0.00;FS=5.865;HRun=2;HaplotypeScore=13.2610;MQ=53;MQ0=0;MQRankSum=1.378;QD=13.63;ReadPosRankSum=-0.168;SB=-142.39;TI=NM_002653;GI=PITX1;FC=Missense_G299A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,42:87:99:1216,0,1162:53:99:0.488 chr5 134364996 rs1131611 G T 102.49 SB;LowDP BaseQRankSum=0.365;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.568;QD=10.25;ReadPosRankSum=-0.365;SB=-0.01;TI=NM_002653;GI=PITX1;FC=Synonymous_R140R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,4:10:99:132,0,198:55:99:0.400 chr5 135382989 rs1442 G C 899.44 PASS BaseQRankSum=2.106;DP=76;Dels=0.00;FS=3.195;HRun=1;HaplotypeScore=2.8661;MQ=55;MQ0=0;MQRankSum=0.010;QD=11.83;ReadPosRankSum=1.237;SB=-704.77;TI=NM_000358;GI=TGFBI;FC=Synonymous_L217L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,43:76:99:929,0,833:55:99:0.566 chr5 136969793 rs2301708 C T 1724.45 PASS BaseQRankSum=1.067;DP=140;Dels=0.00;FS=0.636;HRun=1;HaplotypeScore=8.0194;MQ=50;MQ0=0;MQRankSum=-2.435;QD=12.32;ReadPosRankSum=-0.616;SB=-1296.01;TI=NM_017415;GI=KLHL3;FC=Synonymous_E461E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,80:140:99:1754,0,1516:50:99:0.576 chr5 137013350 . CA C 26.70 LowVariantFreq;R8 BaseQRankSum=0.931;DP=39;FS=3.005;HRun=14;HaplotypeScore=154.6715;MQ=51;MQ0=0;MQRankSum=1.091;QD=0.68;ReadPosRankSum=-0.545;SB=-15.65;TI=NM_017415;GI=KLHL3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,5:39:65.39:65,0,470:51:27:0.167 chr5 137028029 rs2905608 T C 6779.57 PASS BaseQRankSum=0.832;DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3821;MQ=53;MQ0=0;MQRankSum=-1.656;QD=29.87;ReadPosRankSum=-1.427;SB=-3167.76;TI=NM_017415;GI=KLHL3;FC=Synonymous_A157A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,226:227:99:6780,456,0:53:99:0.996 chr5 137206560 rs41431944 A C 1935.38 PASS DP=75;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=25.81;SB=-1234.50;TI=NM_006790,NM_001135940;GI=MYOT,MYOT;FC=Missense_K74Q,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:1968,141,0:57:99:1.000 chr5 138609678 . AT A 197.56 R8 BaseQRankSum=0.388;DP=84;FS=3.808;HRun=15;HaplotypeScore=212.7808;MQ=49;MQ0=0;MQRankSum=0.506;QD=2.35;ReadPosRankSum=-1.282;SB=-35.45;TI=NR_003141,NR_036536,NM_199189,NM_001194954,NR_036535;GI=SNHG4,SNHG4,MATR3,MATR3,MATR3;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,15:84:99:237,0,750:49:99:0.234 chr5 138713959 rs6596474 A C 4021.04 PASS DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.2392;MQ=53;MQ0=0;QD=27.54;SB=-2760.33;TI=NM_152685,NM_005847;GI=SLC23A1,SLC23A1;FC=Missense_S425A,Missense_S421A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:4021,292,0:53:99:1.000 chr5 138718896 . G C 190.26 SB BaseQRankSum=-0.384;DP=65;Dels=0.02;FS=39.341;HRun=5;HaplotypeScore=30.8008;MQ=43;MQ0=0;MQRankSum=-3.855;QD=2.93;ReadPosRankSum=-5.306;SB=-0.01;TI=NM_152685,NM_005847;GI=SLC23A1,SLC23A1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,13:64:99:220,0,1395:43:99:0.203 chr5 139940233 rs250431 G A 1567.65 PASS BaseQRankSum=-0.797;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=0.112;QD=12.06;ReadPosRankSum=-1.919;SB=-901.85;TI=NM_133172,NM_133174,NM_133173,NM_006051;GI=APBB3,APBB3,APBB3,APBB3;FC=Synonymous_H346H,Synonymous_H339H,Synonymous_H341H,Synonymous_H348H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,67:130:99:1598,0,1492:55:99:0.515 chr5 139941228 rs250430 A G 5020.44 PASS DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5639;MQ=52;MQ0=0;QD=27.43;SB=-3458.05;TI=NM_133172,NM_133174,NM_133173,NM_006051;GI=APBB3,APBB3,APBB3,APBB3;FC=Missense_C236R,Missense_C229R,Missense_C231R,Missense_C238R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,182:183:99:5020,361,0:52:99:1.000 chr5 139941318 rs171632 A G 1605.29 PASS BaseQRankSum=-1.096;DP=114;Dels=0.00;FS=1.574;HRun=1;HaplotypeScore=9.0026;MQ=54;MQ0=0;MQRankSum=-0.846;QD=14.08;ReadPosRankSum=-1.867;SB=-1002.55;TI=NM_133172,NM_133174,NM_133173,NM_006051;GI=APBB3,APBB3,APBB3,APBB3;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,69:114:99:1635,0,1064:54:99:0.605 chr5 140011468 rs4914 C G 1581.25 PASS BaseQRankSum=0.987;DP=149;Dels=0.00;FS=3.979;HRun=1;HaplotypeScore=11.9312;MQ=51;MQ0=0;MQRankSum=0.521;QD=10.61;ReadPosRankSum=0.206;SB=-781.22;TI=NM_000591,NM_001174105,NM_001040021,NM_001174104;GI=CD14,CD14,CD14,CD14;FC=Synonymous_L367L,Synonymous_L367L,Synonymous_L367L,Synonymous_L367L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,68:149:99:1611,0,1988:51:99:0.459 chr5 140027216 rs778593 T C 6458.88 PASS DP=198;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9958;MQ=56;MQ0=0;QD=32.62;SB=-1895.30;TI=NM_002488,NM_001185012,NR_033697;GI=NDUFA2,NDUFA2,NDUFA2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,197:198:99:6459,476,0:56:99:1.000 chr5 140027304 rs778594 T C 1913.32 PASS DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2528;MQ=58;MQ0=0;QD=34.17;SB=-242.60;TI=NM_002488,NM_001185012,NR_033697;GI=NDUFA2,NDUFA2,NDUFA2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:56:99:1946,147,0:58:99:1.000 chr5 140052271 rs2563333 A G 2986.57 PASS DP=103;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4512;MQ=56;MQ0=0;QD=29.00;SB=-1757.71;TI=NM_194249;GI=DND1;FC=Synonymous_H121H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:103:99:3020,223,0:56:99:1.000 chr5 140054257 rs58302597 C T 1073.76 PASS BaseQRankSum=-0.567;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4149;MQ=56;MQ0=0;MQRankSum=0.454;QD=11.93;ReadPosRankSum=0.843;SB=-564.14;TI=NM_002109;GI=HARS;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,49:90:99:1104,0,1150:56:99:0.544 chr5 140236950 rs251362 C G 5774.72 PASS DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4080;MQ=56;MQ0=0;QD=30.08;SB=-3513.43;TI=NM_018900,NM_031411,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860;GI=PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S439R,Missense_S439R,Missense_S439R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,190:192:99:5775,424,0:56:99:1.000 chr5 140237109 rs251363 T G 5754.29 PASS DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.0110;MQ=55;MQ0=0;QD=29.06;SB=-3053.03;TI=NM_018900,NM_031411,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860;GI=PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_S492S,Synonymous_S492S,Synonymous_S492S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,197:197:99:5754,424,0:55:99:1.000 chr5 140237387 rs251364 T G 2578.88 PASS DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5215;MQ=56;MQ0=0;QD=31.07;SB=-854.24;TI=NM_018900,NM_031411,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860;GI=PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V585G,Missense_V585G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2612,196,0:56:99:1.000 chr5 140237548 rs630162 A G 1535.08 PASS DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3811;MQ=57;MQ0=0;QD=30.10;SB=-762.69;TI=NM_018900,NM_031411,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_031859,NM_018901,NM_031860;GI=PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA10;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T639A,Missense_T639A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:99:1568,117,0:57:99:1.000 chr5 140263290 rs251380 T G 5984.46 PASS DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6504;MQ=57;MQ0=0;QD=31.17;SB=-3051.81;TI=NM_018900,NM_031411,NM_018905,NM_018906,NM_018907,NM_018908,NM_031849,NM_018909,NM_018910,NM_018911,NM_031857,NM_018901,NM_031860,NM_018902,NM_018903,NM_031865,NM_018904;GI=PCDHA1,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA13;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_A479A,Synonymous_A479A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,192:192:99:5984,448,0:57:99:1.000 chr5 140502343 rs3733698 C T 2840.04 PASS BaseQRankSum=3.500;DP=203;Dels=0.00;FS=6.123;HRun=0;HaplotypeScore=9.2419;MQ=55;MQ0=0;MQRankSum=2.267;QD=13.99;ReadPosRankSum=2.188;SB=-1454.54;TI=NM_018938;GI=PCDHB4;FC=Missense_P255S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,103:203:99:2870,0,2520:55:99:0.507 chr5 140502344 rs3733697 C T 2823.43 PASS BaseQRankSum=3.672;DP=210;Dels=0.00;FS=5.022;HRun=0;HaplotypeScore=10.1360;MQ=55;MQ0=0;MQRankSum=0.539;QD=13.44;ReadPosRankSum=2.000;SB=-1473.91;TI=NM_018938;GI=PCDHB4;FC=Missense_P255L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,106:210:99:2853,0,2652:55:99:0.505 chr5 140503237 rs246669;rs61741192;rs78271884 A G 1515.62 PASS BaseQRankSum=2.854;DP=139;Dels=0.00;FS=1.492;HRun=0;HaplotypeScore=10.6684;MQ=52;MQ0=2;MQRankSum=-2.027;QD=10.90;ReadPosRankSum=-0.097;SB=-715.99;TI=NM_018938;GI=PCDHB4;FC=Missense_T553A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,68:139:99:1546,0,1899:52:99:0.489 chr5 140907261 . G A 58.77 SB BaseQRankSum=-1.720;DP=35;Dels=0.00;FS=9.874;HRun=3;HaplotypeScore=72.9140;MQ=44;MQ0=0;MQRankSum=-1.581;QD=1.68;ReadPosRankSum=0.539;SB=-0.01;TI=NM_005219,NM_001079812;GI=DIAPH1,DIAPH1;FC=Missense_S1051F,Missense_S1042F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,12:35:88.76:89,0,417:44:59:0.343 chr5 140907266 . TA T 44.38 R8;SB BaseQRankSum=0.099;DP=35;FS=0.000;HRun=23;HaplotypeScore=267.1022;MQ=45;MQ0=0;MQRankSum=0.536;QD=1.27;ReadPosRankSum=-1.211;SB=-4.50;TI=NM_005219,NM_001079812;GI=DIAPH1,DIAPH1;FC=Splicing,Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,5:35:83.41:83,0,159:45:44:0.200 chr5 146460691 rs17524553 T A 1244.12 PASS BaseQRankSum=2.204;DP=91;Dels=0.00;FS=0.794;HRun=0;HaplotypeScore=2.6548;MQ=56;MQ0=0;MQRankSum=1.283;QD=13.67;ReadPosRankSum=0.647;SB=-744.15;TI=NM_181677,NM_181678;GI=PPP2R2B,PPP2R2B;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,44:91:99:1274,0,1193:56:99:0.484 chr5 146619206 rs4705132 G C 1141.58 PASS BaseQRankSum=1.013;DP=101;Dels=0.00;FS=0.749;HRun=1;HaplotypeScore=3.8703;MQ=53;MQ0=0;MQRankSum=-0.038;QD=11.30;ReadPosRankSum=-0.303;SB=-635.46;TI=NM_145001,NM_001112724;GI=STK32A,STK32A;FC=Synonymous_A3A,Synonymous_A3A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,46:101:99:1172,0,1229:53:99:0.455 chr5 147475386 rs6892205 A G 2261.16 PASS BaseQRankSum=-0.797;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8665;MQ=57;MQ0=0;MQRankSum=1.759;QD=27.58;ReadPosRankSum=0.947;SB=-1502.68;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Missense_Q267R,Missense_Q267R,Missense_Q267R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,80:82:99:2294,127,0:57:99:0.976 chr5 147477551 rs34482796 C T 1071.63 PASS DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=28.96;SB=-636.72;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Missense_A335V,Missense_A335V,Missense_A335V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,37:37:81.26:1105,81,0:54:81:1.000 chr5 147480007 rs2303062 A G 2141.77 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=29.34;SB=-1315.03;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2175,157,0:54:99:1.000 chr5 147480027 rs2303063 G A 2386.48 PASS DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.41;SB=-1433.64;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Missense_S368N,Missense_S368N,Missense_S368N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2419,175,0:53:99:1.000 chr5 147480112 rs2303065 T C 1535.79 PASS DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.92;SB=-824.32;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Synonymous_H396H,Synonymous_H396H,Synonymous_H396H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1569,114,0:53:99:1.000 chr5 147480955 rs2303067 A G 2305.44 PASS DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=27.12;SB=-1474.68;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Missense_K420E,Missense_K420E,Missense_K420E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2338,166,0:55:99:1.000 chr5 147481430 rs6896303 A G 1941.58 PASS DP=69;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=28.14;SB=-1039.69;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Synonymous_G463G,Synonymous_G463G,Synonymous_G463G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:1975,141,0:51:99:1.000 chr5 147486677 rs880687 C A 3557.34 PASS DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7581;MQ=52;MQ0=0;QD=26.95;SB=-2238.05;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Synonymous_G519G,Synonymous_G519G,Synonymous_G519G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:132:99:3557,256,0:52:99:1.000 chr5 147488367 rs2303071 C T 1646.97 PASS DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.41;SB=-688.01;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Synonymous_V553V,Synonymous_V553V,Synonymous_V553V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:1680,120,0:56:99:1.000 chr5 147498019 rs3777134 G A 2649.53 PASS BaseQRankSum=1.335;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.541;QD=27.60;ReadPosRankSum=-0.902;SB=-1795.68;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Missense_R711Q,Missense_R711Q,Missense_R711Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,95:96:99:2683,160,0:54:99:0.990 chr5 147499616 rs17704908 C T 4843.80 PASS DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0345;MQ=54;MQ0=0;QD=28.66;SB=-3018.05;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Synonymous_L786L,Synonymous_L786L,Synonymous_L786L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,168:169:99:4844,352,0:54:99:1.000 chr5 147499670 rs33920397 C T 5336.32 PASS DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7530;MQ=54;MQ0=0;QD=30.67;SB=-2862.76;TI=NM_001127699,NM_006846,NM_001127698;GI=SPINK5,SPINK5,SPINK5;FC=Synonymous_G804G,Synonymous_G804G,Synonymous_G804G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,174:174:99:5336,394,0:54:99:1.000 chr5 147505116 rs3764930 G A 2278.74 PASS BaseQRankSum=-0.890;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=0.655;QD=30.79;ReadPosRankSum=-0.140;SB=-1400.07;TI=NM_006846,NM_001127698;GI=SPINK5,SPINK5;FC=Silent,Synonymous_A923A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,73:74:99:2312,134,0:55:99:0.986 chr5 147510866 rs2400478 T C 3222.65 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8271;MQ=54;MQ0=0;QD=28.02;SB=-1688.72;TI=NM_006846,NM_001127698;GI=SPINK5,SPINK5;FC=Synonymous_G1003G,Synonymous_G1033G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:115:99:3256,235,0:54:99:1.000 chr5 148206473 rs1042714 G C 2377.91 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1004;MQ=55;MQ0=0;QD=27.65;SB=-1274.86;TI=NM_000024;GI=ADRB2;FC=Missense_E27Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2411,175,0:55:99:1.000 chr5 148206646 rs1042717 G A 6630.40 PASS BaseQRankSum=-0.810;DP=218;Dels=0.00;FS=4.334;HRun=0;HaplotypeScore=10.9082;MQ=55;MQ0=0;MQRankSum=-0.667;QD=30.41;ReadPosRankSum=0.524;SB=-3093.25;TI=NM_000024;GI=ADRB2;FC=Synonymous_L84L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,217:218:99:6630,453,0:55:99:0.995 chr5 148206917 rs1042718 C A 6024.12 PASS BaseQRankSum=1.695;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.4056;MQ=56;MQ0=0;MQRankSum=1.659;QD=31.87;ReadPosRankSum=-0.174;SB=-3319.86;TI=NM_000024;GI=ADRB2;FC=Synonymous_R175R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,188:189:99:6024,445,0:56:99:0.995 chr5 148207447 rs1042719 G C 4479.14 PASS DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6796;MQ=58;MQ0=0;QD=32.46;SB=-1020.88;TI=NM_000024;GI=ADRB2;FC=Synonymous_G351G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:138:99:4479,337,0:58:99:1.000 chr5 148207633 rs1042720 G A 321.19 LowGQ;LowDP DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=32.12;SB=-40.65;TI=NM_000024;GI=ADRB2;FC=Synonymous_L413L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,10:10:27.09:354,27,0:58:27:1.000 chr5 148386525 rs6871030 T G 1155.23 PASS BaseQRankSum=1.543;DP=111;Dels=0.00;FS=7.348;HRun=2;HaplotypeScore=5.7728;MQ=49;MQ0=0;MQRankSum=-2.068;QD=10.41;ReadPosRankSum=0.994;SB=-923.83;TI=NM_024577;GI=SH3TC2;FC=Synonymous_P1198P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,57:111:99:1185,0,1315:49:99:0.514 chr5 148407708 rs1432794 A C 9297.26 PASS BaseQRankSum=0.962;DP=306;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.8855;MQ=57;MQ0=0;MQRankSum=-1.370;QD=30.38;ReadPosRankSum=-1.381;SB=-5178.92;TI=NM_024577;GI=SH3TC2;FC=Synonymous_R529R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,305:306:99:9297,650,0:57:99:0.997 chr5 148407893 rs6875902 C A 2826.03 PASS BaseQRankSum=1.445;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9354;MQ=54;MQ0=0;MQRankSum=0.452;QD=12.96;ReadPosRankSum=-2.492;SB=-1252.82;TI=NM_024577;GI=SH3TC2;FC=Missense_A468S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,116:218:99:2856,0,2616:54:99:0.535 chr5 148408101 rs1432793 A G 451.01 PASS BaseQRankSum=-0.227;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=0.453;QD=14.09;ReadPosRankSum=0.529;SB=-194.05;TI=NM_024577;GI=SH3TC2;FC=Synonymous_G398G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,15:32:99:481,0,573:59:99:0.469 chr5 149212430 rs45520937 G A 2043.20 PASS BaseQRankSum=0.066;DP=142;Dels=0.00;FS=0.652;HRun=0;HaplotypeScore=10.4069;MQ=56;MQ0=0;MQRankSum=2.446;QD=14.39;ReadPosRankSum=0.153;SB=-1170.05;TI=NM_133263,NM_001172698,NM_001172699;GI=PPARGC1B,PPARGC1B,PPARGC1B;FC=Missense_R265Q,Missense_R226Q,Missense_R201Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,83:142:99:2073,0,1560:56:99:0.585 chr5 149212510 rs11959820 C A 2577.18 PASS BaseQRankSum=1.332;DP=195;Dels=0.00;FS=1.771;HRun=1;HaplotypeScore=2.6823;MQ=53;MQ0=0;MQRankSum=3.187;QD=13.22;ReadPosRankSum=1.872;SB=-1555.56;TI=NM_133263,NM_001172698,NM_001172699;GI=PPARGC1B,PPARGC1B,PPARGC1B;FC=Missense_R292S,Missense_R253S,Missense_R228S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,100:195:99:2607,0,2449:53:99:0.513 chr5 149216256 rs45588534 C T 1924.51 PASS BaseQRankSum=0.791;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3377;MQ=55;MQ0=0;MQRankSum=0.352;QD=12.75;ReadPosRankSum=1.182;SB=-849.13;TI=NM_133263,NM_001172698,NM_001172699;GI=PPARGC1B,PPARGC1B,PPARGC1B;FC=Synonymous_G746G,Synonymous_G707G,Synonymous_G682G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,74:151:99:1954,0,2070:55:99:0.490 chr5 149216304 rs45543631 C T 1655.68 PASS BaseQRankSum=1.410;DP=117;Dels=0.00;FS=0.713;HRun=0;HaplotypeScore=3.6257;MQ=55;MQ0=0;MQRankSum=1.426;QD=14.15;ReadPosRankSum=0.140;SB=-864.97;TI=NM_133263,NM_001172698,NM_001172699;GI=PPARGC1B,PPARGC1B,PPARGC1B;FC=Synonymous_A762A,Synonymous_A723A,Synonymous_A698A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,64:117:99:1686,0,1394:55:99:0.547 chr5 149242788 rs4705390 G A 991.52 PASS BaseQRankSum=-1.806;DP=95;Dels=0.00;FS=0.808;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=2.135;QD=10.44;ReadPosRankSum=-2.994;SB=-570.94;TI=NM_000440;GI=PDE6A;FC=Synonymous_D800D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,43:95:99:1022,0,1184:54:99:0.453 chr5 149245754 rs17110644 A G 1163.54 PASS BaseQRankSum=1.043;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7554;MQ=53;MQ0=0;MQRankSum=-1.147;QD=13.37;ReadPosRankSum=-1.372;SB=-881.42;TI=NM_000440;GI=PDE6A;FC=Synonymous_F779F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,52:87:99:1194,0,938:53:99:0.598 chr5 149265875 rs61733360 G A 1162.70 PASS BaseQRankSum=0.831;DP=146;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7776;MQ=52;MQ0=0;MQRankSum=1.189;QD=7.96;ReadPosRankSum=0.328;SB=-826.35;TI=NM_000440;GI=PDE6A;FC=Synonymous_F597F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,56:146:99:1193,0,2038:52:99:0.384 chr5 149323772 rs2277926 G A 1195.38 PASS BaseQRankSum=-1.019;DP=75;Dels=0.00;FS=4.840;HRun=0;HaplotypeScore=3.7589;MQ=56;MQ0=0;MQRankSum=1.083;QD=15.94;ReadPosRankSum=0.101;SB=-280.25;TI=NM_000440;GI=PDE6A;FC=Synonymous_N155N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,42:75:99:1225,0,989:56:99:0.560 chr5 149323906 rs2277925 T G 3921.01 PASS BaseQRankSum=1.549;DP=287;Dels=0.00;FS=2.072;HRun=2;HaplotypeScore=7.0704;MQ=55;MQ0=0;MQRankSum=0.265;QD=13.66;ReadPosRankSum=0.624;SB=-1671.11;TI=NM_000440;GI=PDE6A;FC=Synonymous_R111R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:139,148:287:99:3921,0,3479:55:99:0.516 chr5 149360877 rs30832 T C 8982.96 PASS DP=273;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5154;MQ=55;MQ0=0;QD=32.90;SB=-4856.62;TI=NM_000112;GI=SLC26A2;FC=Missense_I574T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,273:273:99:8983,662,0:55:99:1.000 chr5 149361221 rs3776070 A T 1050.51 PASS BaseQRankSum=-0.092;DP=114;Dels=0.00;FS=3.598;HRun=0;HaplotypeScore=7.6783;MQ=55;MQ0=0;MQRankSum=2.539;QD=9.22;ReadPosRankSum=0.662;SB=-632.42;TI=NM_000112;GI=SLC26A2;FC=Missense_T689S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,47:114:99:1081,0,1642:55:99:0.412 chr5 149457678 rs2228422 G A 1287.44 PASS BaseQRankSum=0.193;DP=106;Dels=0.00;FS=1.612;HRun=0;HaplotypeScore=2.8847;MQ=54;MQ0=0;MQRankSum=-0.180;QD=12.15;ReadPosRankSum=-0.698;SB=-755.39;TI=NM_005211;GI=CSF1R;FC=Synonymous_T242T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,54:106:99:1317,0,1098:54:99:0.509 chr5 149754991 rs2071238 C T 1136.33 PASS BaseQRankSum=0.087;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7853;MQ=57;MQ0=0;MQRankSum=1.586;QD=13.69;ReadPosRankSum=1.650;SB=-571.91;TI=NM_001008657,NM_001135245,NM_001135244,NM_000356,NM_001135243,NM_001195141;GI=TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1;FC=Synonymous_P526P,Synonymous_P449P,Synonymous_P526P,Synonymous_P449P,Synonymous_P526P,Synonymous_P526P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,45:83:99:1166,0,873:57:99:0.542 chr5 149755421 rs2071239 A G 1411.10 PASS BaseQRankSum=2.447;DP=139;Dels=0.00;FS=5.248;HRun=0;HaplotypeScore=2.7605;MQ=52;MQ0=0;MQRankSum=-0.933;QD=10.15;ReadPosRankSum=-2.371;SB=-691.84;TI=NM_001008657,NM_001135245,NM_001135244,NM_000356,NM_001135243,NM_001195141;GI=TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1;FC=Synonymous_S614S,Synonymous_S537S,Synonymous_S614S,Synonymous_S537S,Synonymous_S614S,Synonymous_S614S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,60:139:99:1441,0,1968:52:99:0.432 chr5 149755845 rs34796297 A G 2374.61 PASS BaseQRankSum=1.092;DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=57;MQ0=0;MQRankSum=2.830;QD=10.99;ReadPosRankSum=-0.572;SB=-1140.22;TI=NM_001008657,NM_001135245,NM_001135244,NM_000356,NM_001135243,NM_001195141;GI=TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1;FC=Synonymous_E698E,Synonymous_E621E,Synonymous_E698E,Synonymous_E621E,Synonymous_E698E,Synonymous_E698E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,97:216:99:2405,0,2990:57:99:0.451 chr5 149759096 rs7713638 T C 2818.64 PASS BaseQRankSum=1.272;DP=223;Dels=0.00;FS=4.643;HRun=0;HaplotypeScore=8.8860;MQ=56;MQ0=0;MQRankSum=-0.213;QD=12.64;ReadPosRankSum=0.512;SB=-1490.77;TI=NM_001008657,NM_001135245,NM_001135244,NM_000356,NM_001135243,NM_001195141;GI=TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1;FC=Missense_V887A,Missense_V810A,Missense_V887A,Missense_V810A,Missense_V887A,Missense_V887A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,110:223:99:2849,0,3062:56:99:0.493 chr5 149759201 . C T 3087.67 PASS BaseQRankSum=2.107;DP=259;Dels=0.00;FS=4.232;HRun=2;HaplotypeScore=9.3962;MQ=54;MQ0=0;MQRankSum=2.389;QD=11.92;ReadPosRankSum=1.326;SB=-1988.98;TI=NM_001008657,NM_001135245,NM_001135244,NM_000356,NM_001135243,NM_001195141;GI=TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1;FC=Missense_S922L,Missense_S845L,Missense_S922L,Missense_S845L,Missense_S922L,Missense_S922L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:130,128:259:99:3118,0,3302:54:99:0.496 chr5 149763305 rs7715100 A G 1304.08 PASS BaseQRankSum=1.050;DP=136;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6443;MQ=51;MQ0=0;MQRankSum=0.382;QD=9.59;ReadPosRankSum=1.311;SB=-719.68;TI=NM_001008657,NM_001135245,NM_001135244,NM_000356,NM_001135243,NM_001195141;GI=TCOF1,TCOF1,TCOF1,TCOF1,TCOF1,TCOF1;FC=Missense_Q955R,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,56:136:99:1334,0,2013:51:99:0.412 chr5 149772344 . G A 1155.13 PASS BaseQRankSum=0.712;DP=86;Dels=0.00;FS=4.237;HRun=0;HaplotypeScore=0.9989;MQ=55;MQ0=0;MQRankSum=1.116;QD=13.43;ReadPosRankSum=1.327;SB=-854.29;TI=NM_001135245,NM_001135244,NM_000356,NM_001135243,NM_001195141;GI=TCOF1,TCOF1,TCOF1,TCOF1,TCOF1;FC=Synonymous_A1121A,Synonymous_A1160A,Synonymous_A1120A,Synonymous_A1197A,Synonymous_A1159A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,51:86:99:1185,0,842:55:99:0.593 chr5 149776113 . G A 1428.48 PASS BaseQRankSum=-1.345;DP=146;Dels=0.00;FS=5.129;HRun=0;HaplotypeScore=5.5211;MQ=58;MQ0=0;MQRankSum=0.158;QD=9.78;ReadPosRankSum=0.024;SB=-683.43;TI=NM_001135245,NM_001135244,NM_000356,NM_001135243,NM_001195141;GI=TCOF1,TCOF1,TCOF1,TCOF1,TCOF1;FC=Synonymous_S1274S,Synonymous_S1313S,Synonymous_S1273S,Synonymous_S1350S,Synonymous_S1312S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,55:146:99:1458,0,2521:58:99:0.377 chr5 149776232 rs15251 C T 2017.26 PASS BaseQRankSum=0.494;DP=158;Dels=0.00;FS=1.331;HRun=0;HaplotypeScore=8.2400;MQ=56;MQ0=0;MQRankSum=-0.191;QD=12.77;ReadPosRankSum=-1.478;SB=-818.07;TI=NM_001135245,NM_001135244,NM_000356,NM_001135243,NM_001195141;GI=TCOF1,TCOF1,TCOF1,TCOF1,TCOF1;FC=Missense_A1314V,Missense_A1353V,Missense_A1313V,Missense_A1390V,Missense_A1352V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,81:158:99:2047,0,1887:56:99:0.513 chr5 149907533 rs2273235 T G 1954.88 PASS BaseQRankSum=2.355;DP=183;Dels=0.00;FS=6.431;HRun=0;HaplotypeScore=11.2068;MQ=54;MQ0=0;MQRankSum=-0.349;QD=10.68;ReadPosRankSum=-0.346;SB=-1327.73;TI=NM_001543;GI=NDST1;FC=Synonymous_V227V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,89:183:99:1985,0,2133:54:99:0.494 chr5 149907602 rs2273234 A G 1625.34 PASS BaseQRankSum=-0.028;DP=136;Dels=0.00;FS=6.617;HRun=0;HaplotypeScore=7.1954;MQ=55;MQ0=0;MQRankSum=-0.081;QD=11.95;ReadPosRankSum=-0.128;SB=-1082.01;TI=NM_001543;GI=NDST1;FC=Synonymous_P250P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,70:136:99:1655,0,1813:55:99:0.515 chr5 149919739 rs1290147 G C 2121.72 PASS DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2038;MQ=53;MQ0=0;QD=27.55;SB=-1421.68;TI=NM_001543;GI=NDST1;FC=Synonymous_T554T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:77:99:2155,154,0:53:99:1.000 chr5 149998128 rs6579797 G A 1658.24 PASS BaseQRankSum=0.678;DP=109;Dels=0.00;FS=0.723;HRun=1;HaplotypeScore=5.3371;MQ=57;MQ0=0;MQRankSum=0.126;QD=15.21;ReadPosRankSum=0.230;SB=-1068.19;TI=NM_001166208,NM_001166209;GI=SYNPO,SYNPO;FC=Missense_D67N,Missense_D67N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,63:109:99:1688,0,1148:57:99:0.578 chr5 150227998 rs10065172 C T 2778.93 PASS BaseQRankSum=0.915;DP=228;Dels=0.00;FS=0.487;HRun=1;HaplotypeScore=9.2740;MQ=59;MQ0=0;MQRankSum=0.428;QD=12.19;ReadPosRankSum=-0.788;SB=-1856.00;TI=NM_001145805;GI=IRGM;FC=Synonymous_L105L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,117:228:99:2809,0,2801:59:99:0.515 chr5 150639409 rs153477 A G 744.57 PASS BaseQRankSum=1.554;DP=58;Dels=0.00;FS=2.250;HRun=0;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=0.518;QD=12.84;ReadPosRankSum=0.581;SB=-560.49;TI=NM_001167607,NM_000405;GI=GM2A,GM2A;FC=Missense_I59V,Missense_I59V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,33:58:99:775,0,558:55:99:0.569 chr5 150639439 rs153478 A G 1298.25 PASS DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=56;MQ0=0;QD=26.49;SB=-866.49;TI=NM_001167607,NM_000405;GI=GM2A,GM2A;FC=Missense_M69V,Missense_M69V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:96.31:1331,96,0:56:96:1.000 chr5 150647012 rs1048723 A G 892.24 PASS BaseQRankSum=0.421;DP=60;Dels=0.00;FS=3.510;HRun=0;HaplotypeScore=3.7874;MQ=58;MQ0=0;MQRankSum=0.968;QD=14.87;ReadPosRankSum=1.116;SB=-390.73;TI=NM_001167607,NM_000405;GI=GM2A,GM2A;FC=Silent,Synonymous_X194X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,30:60:99:922,0,931:58:99:0.500 chr5 150647156 rs9324686 T C 1795.88 PASS BaseQRankSum=2.942;DP=169;Dels=0.00;FS=0.572;HRun=0;HaplotypeScore=3.7212;MQ=51;MQ0=0;MQRankSum=-0.729;QD=10.63;ReadPosRankSum=2.061;SB=-1168.32;TI=NM_001167607,NM_000405;GI=GM2A,GM2A;FC=Synonymous_I172I,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,80:169:99:1826,0,2047:51:99:0.473 chr5 150696447 rs369907 C T 1842.77 PASS BaseQRankSum=2.132;DP=173;Dels=0.00;FS=0.569;HRun=1;HaplotypeScore=4.6664;MQ=51;MQ0=0;MQRankSum=2.887;QD=10.65;ReadPosRankSum=0.773;SB=-1183.28;TI=NM_181776;GI=SLC36A2;FC=Synonymous_Q461Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,81:173:99:1873,0,2035:51:99:0.471 chr5 150696496 rs10042608 G A 1889.07 PASS BaseQRankSum=-0.037;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3537;MQ=53;MQ0=0;MQRankSum=1.804;QD=10.21;ReadPosRankSum=1.378;SB=-1321.00;TI=NM_181776;GI=SLC36A2;FC=Missense_A445V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,89:185:99:1919,0,2166:53:99:0.481 chr5 150696540 rs431240;rs41399749 C T 1714.24 PASS BaseQRankSum=1.280;DP=133;Dels=0.00;FS=1.387;HRun=0;HaplotypeScore=2.8861;MQ=55;MQ0=0;MQRankSum=1.104;QD=12.89;ReadPosRankSum=0.499;SB=-1099.05;TI=NM_181776;GI=SLC36A2;FC=Synonymous_T430T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,72:133:99:1744,0,1435:55:99:0.541 chr5 150723806 rs192192 G A 3875.74 PASS DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=50;MQ0=0;QD=26.91;SB=-2561.27;TI=NM_181776;GI=SLC36A2;FC=Synonymous_L63L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,144:144:99:3876,277,0:50:99:1.000 chr5 153857383 . C G 31.12 SB BaseQRankSum=-2.575;DP=46;Dels=0.00;FS=16.561;HRun=3;HaplotypeScore=36.8091;MQ=54;MQ0=0;MQRankSum=-0.911;QD=0.68;ReadPosRankSum=-3.050;SB=-0.01;TI=NM_004821;GI=HAND1;FC=Synonymous_P62P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,11:46:61.11:61,0,679:54:31:0.244 chr5 156479424 rs1553317 A C 458.08 LowDP DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49;MQ0=0;QD=26.95;SB=-119.24;TI=NM_001099414,NM_012206,NM_001173393;GI=HAVCR1,HAVCR1,HAVCR1;FC=Synonymous_T207T,Synonymous_T207T,Synonymous_T207T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,17:17:39.11:491,39,0:49:39:1.000 chr5 156479509 rs1553316 A G 366.65 LowDP DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45;MQ0=0;QD=33.33;SB=-158.35;TI=NM_001099414,NM_012206,NM_001173393;GI=HAVCR1,HAVCR1,HAVCR1;FC=Missense_L179P,Missense_L179P,Missense_L179P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,11:11:33.10:400,33,0:45:33:1.000 chr5 156479557 . GTTGGAACAGTCGTCA G 1396.61 LowDP DP=11;FS=0.000;HRun=0;HaplotypeScore=40.5335;MQ=41;MQ0=0;QD=126.96;SB=-220.77;TI=NM_001099414,NM_012206,NM_001173393;GI=HAVCR1,HAVCR1,HAVCR1;FC=5AA_Deletion,5AA_Deletion,5AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,10:11:30.10:1439,30,0:41:30:0.909 chr5 156482459 rs1809941 G T 4058.56 PASS BaseQRankSum=1.707;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7714;MQ=54;MQ0=0;MQRankSum=0.511;QD=29.20;ReadPosRankSum=-1.034;SB=-2469.92;TI=NM_001099414,NM_012206,NM_001173393;GI=HAVCR1,HAVCR1,HAVCR1;FC=Synonymous_S44S,Synonymous_S44S,Synonymous_S44S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,138:139:99:4059,292,0:54:99:0.993 chr5 156899869 rs4704870 T C 6605.92 PASS BaseQRankSum=1.595;DP=229;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=26.2219;MQ=55;MQ0=0;MQRankSum=0.349;QD=28.85;ReadPosRankSum=-1.170;SB=-3144.73;TI=NM_001099287,NM_001172292;GI=NIPAL4,NIPAL4;FC=Synonymous_V434V,Synonymous_V415V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,227:229:99:6606,494,0:55:99:0.996 chr5 156899925 rs61743233 C T 2988.73 PASS BaseQRankSum=2.817;DP=219;Dels=0.00;FS=3.093;HRun=1;HaplotypeScore=12.6230;MQ=53;MQ0=0;MQRankSum=1.814;QD=13.65;ReadPosRankSum=-0.298;SB=-1371.89;TI=NM_001099287,NM_001172292;GI=NIPAL4,NIPAL4;FC=Missense_S453L,Missense_S434L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,111:219:99:3019,0,2666:53:99:0.507 chr5 156936364 rs1422795 T C 2772.92 PASS BaseQRankSum=-0.978;DP=223;Dels=0.00;FS=3.787;HRun=1;HaplotypeScore=7.3159;MQ=53;MQ0=0;MQRankSum=1.592;QD=12.43;ReadPosRankSum=-0.081;SB=-1973.97;TI=NM_033274;GI=ADAM19;FC=Missense_S284G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,125:223:99:2803,0,2354:53:99:0.561 chr5 159659273 rs1130435 C T 289.95 LowDP BaseQRankSum=0.755;DP=18;Dels=0.00;FS=5.614;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.133;QD=16.11;ReadPosRankSum=2.088;SB=-27.97;TI=NM_001130958,NM_001040442,NM_001445;GI=FABP6,FABP6,FABP6;FC=Missense_T128M,Missense_T128M,Missense_T79M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,10:18:99:320,0,171:54:99:0.556 chr5 161113004 rs13188991 G A 933.03 PASS BaseQRankSum=0.449;DP=81;Dels=0.00;FS=1.834;HRun=0;HaplotypeScore=1.9981;MQ=53;MQ0=0;MQRankSum=-0.316;QD=11.52;ReadPosRankSum=0.486;SB=-653.46;TI=NM_000811;GI=GABRA6;FC=Synonymous_S3S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,41:81:99:963,0,1043:53:99:0.506 chr5 161117338 . G A 607.26 PASS BaseQRankSum=0.353;DP=46;Dels=0.00;FS=2.512;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-0.397;QD=13.20;ReadPosRankSum=-0.684;SB=-425.64;TI=NM_000811;GI=GABRA6;FC=Missense_V269I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,25:46:99:637,0,563:56:99:0.543 chr5 161119071 rs12522663 G T 2857.94 PASS BaseQRankSum=1.699;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=1.471;QD=26.71;ReadPosRankSum=1.405;SB=-1806.92;TI=NM_000811;GI=GABRA6;FC=Synonymous_A317A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,105:107:99:2891,208,0:51:99:0.991 chr5 161119125 rs13184586 C G 955.45 PASS BaseQRankSum=-0.428;DP=85;Dels=0.00;FS=0.832;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=0.163;QD=11.24;ReadPosRankSum=-0.445;SB=-578.55;TI=NM_000811;GI=GABRA6;FC=Synonymous_A335A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,39:85:99:985,0,1111:53:99:0.459 chr5 161128627 rs34907804 C T 3106.60 PASS BaseQRankSum=0.441;DP=276;Dels=0.00;FS=3.378;HRun=0;HaplotypeScore=5.4427;MQ=57;MQ0=0;MQRankSum=1.363;QD=11.26;ReadPosRankSum=0.929;SB=-1809.75;TI=NM_000811;GI=GABRA6;FC=Missense_P404S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:151,124:276:99:3137,0,3991:57:99:0.451 chr5 161128761 rs4277944 C G 5082.46 PASS DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=30.25;SB=-3049.47;TI=NM_000811;GI=GABRA6;FC=Synonymous_V448V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,168:168:99:5082,370,0:55:99:1.000 chr5 161281245 rs35166395 T C 699.95 PASS BaseQRankSum=0.892;DP=63;Dels=0.00;FS=3.586;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=1.335;QD=11.11;ReadPosRankSum=-1.985;SB=-428.92;TI=NM_000806,NM_001127643,NM_001127644,NM_001127645,NM_001127646,NM_001127647,NM_001127648;GI=GABRA1,GABRA1,GABRA1,GABRA1,GABRA1,GABRA1,GABRA1;FC=Synonymous_G52G,Synonymous_G52G,Synonymous_G52G,Synonymous_G52G,Synonymous_G52G,Synonymous_G52G,Synonymous_G52G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,28:63:99:730,0,947:52:99:0.444 chr5 161529571 rs211035 A G 2784.97 PASS DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=54;MQ0=0;QD=27.57;SB=-1773.69;TI=NM_198903,NM_000816,NM_198904;GI=GABRG2,GABRG2,GABRG2;FC=Missense_I215V,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2818,202,0:54:99:1.000 chr5 167835539 rs17551608 C T 2550.83 PASS BaseQRankSum=0.078;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3619;MQ=54;MQ0=0;MQRankSum=1.319;QD=12.32;ReadPosRankSum=0.138;SB=-1634.27;TI=NM_001161661,NM_015238,NM_001161662;GI=WWC1,WWC1,WWC1;FC=Missense_R250C,Missense_R250C,Missense_R250C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,104:207:99:2581,0,2484:54:99:0.502 chr5 167850748 rs12054944 A G 2623.09 PASS BaseQRankSum=0.789;DP=214;Dels=0.00;FS=3.896;HRun=2;HaplotypeScore=16.9443;MQ=57;MQ0=0;MQRankSum=1.652;QD=12.26;ReadPosRankSum=-1.227;SB=-1590.76;TI=NM_001161661,NM_015238,NM_001161662;GI=WWC1,WWC1,WWC1;FC=Synonymous_S495S,Synonymous_S495S,Synonymous_S495S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,100:214:99:2653,0,2747:57:99:0.467 chr5 167881029 . TGGA T 7182.99 PASS DP=154;FS=0.000;HRun=0;HaplotypeScore=77.6521;MQ=55;MQ0=0;QD=46.64;SB=-3475.86;TI=NM_001161661,NM_015238,NM_001161662;GI=WWC1,WWC1,WWC1;FC=1AA_Deletion,1AA_Deletion,1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:23,130:154:99:7183,400,0:55:99:0.850 chr5 168098235 rs2277933 A G 3979.40 PASS DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3129;MQ=54;MQ0=0;QD=29.05;SB=-2550.64;TI=NM_003062;GI=SLIT3;FC=Synonymous_D1365D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:3979,289,0:54:99:1.000 chr5 168098463 rs292486 A G 5041.55 PASS DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.5920;MQ=54;MQ0=0;QD=27.70;SB=-2869.39;TI=NM_003062;GI=SLIT3;FC=Synonymous_S1289S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,182:182:99:5042,367,0:54:99:1.000 chr5 168123313 rs1864954 A G 4626.57 PASS DP=184;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=50;MQ0=0;QD=25.14;SB=-3405.01;TI=NM_003062;GI=SLIT3;FC=Synonymous_C1022C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,184:184:99:4627,325,0:50:99:1.000 chr5 168176517 rs2304035 A G 5691.82 PASS DP=187;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.0704;MQ=54;MQ0=0;QD=30.44;SB=-2635.08;TI=NM_003062;GI=SLIT3;FC=Synonymous_I699I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,187:187:99:5692,415,0:54:99:1.000 chr5 168180081 rs10036727 C T 2119.53 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8771;MQ=51;MQ0=0;QD=25.23;SB=-1444.26;TI=NM_003062;GI=SLIT3;FC=Missense_G618S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:84:99:2153,154,0:51:99:1.000 chr5 168201252 . G A 1310.45 PASS BaseQRankSum=2.459;DP=90;Dels=0.00;FS=3.003;HRun=1;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=0.104;QD=14.56;ReadPosRankSum=1.402;SB=-846.58;TI=NM_003062;GI=SLIT3;FC=Missense_S428F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,56:90:99:1340,0,812:51:99:0.622 chr5 168212951 rs891921 A G 4342.00 PASS DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8888;MQ=51;MQ0=0;QD=26.32;SB=-2999.80;TI=NM_003062;GI=SLIT3;FC=Missense_V371A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,165:165:99:4342,304,0:51:99:1.000 chr5 168233474 rs3797715 G A 675.39 PASS BaseQRankSum=0.346;DP=83;Dels=0.00;FS=7.674;HRun=2;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=1.313;QD=8.14;ReadPosRankSum=1.237;SB=-315.80;TI=NM_003062;GI=SLIT3;FC=Synonymous_N304N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,30:83:99:705,0,1299:55:99:0.361 chr5 168671698 rs10063591 A T 928.70 PASS BaseQRankSum=-0.850;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8919;MQ=53;MQ0=0;MQRankSum=1.334;QD=10.80;ReadPosRankSum=0.594;SB=-641.09;TI=NM_003062;GI=SLIT3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,40:86:99:959,0,1039:53:99:0.471 chr5 169535522 rs10063424 T C 2560.98 PASS BaseQRankSum=2.041;DP=221;Dels=0.00;FS=0.496;HRun=0;HaplotypeScore=9.8101;MQ=54;MQ0=0;MQRankSum=2.856;QD=11.59;ReadPosRankSum=-0.656;SB=-1487.82;TI=NM_144769,NM_012188;GI=FOXI1,FOXI1;FC=Synonymous_Y253Y,Synonymous_Y348Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,101:221:99:2591,0,2930:54:99:0.457 chr5 171480055 rs4569891 G A 1131.88 PASS BaseQRankSum=-0.019;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6814;MQ=54;MQ0=0;MQRankSum=0.630;QD=10.68;ReadPosRankSum=0.579;SB=-564.14;TI=NM_005990;GI=STK10;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,47:106:99:1162,0,1489:54:99:0.443 chr5 171481606 rs10155597 A G 864.54 PASS BaseQRankSum=0.737;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4581;MQ=52;MQ0=0;MQRankSum=1.595;QD=11.53;ReadPosRankSum=1.171;SB=-437.22;TI=NM_005990;GI=STK10;FC=Synonymous_C873C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,37:75:99:895,0,946:52:99:0.493 chr5 171481667 rs56066852 G A 1387.40 PASS BaseQRankSum=-0.062;DP=139;Dels=0.00;FS=0.632;HRun=1;HaplotypeScore=6.4426;MQ=51;MQ0=0;MQRankSum=0.765;QD=9.98;ReadPosRankSum=1.494;SB=-1007.18;TI=NM_005990;GI=STK10;FC=Missense_S853L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,66:139:99:1417,0,1541:51:99:0.478 chr5 171533629 rs2306963 A G 2634.43 PASS DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6269;MQ=56;MQ0=0;QD=29.27;SB=-1024.99;TI=NM_005990;GI=STK10;FC=Synonymous_S261S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2667,196,0:56:99:1.000 chr5 171533656 rs2306962 C T 4532.42 PASS DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1753;MQ=55;MQ0=0;QD=28.15;SB=-2221.99;TI=NM_005990;GI=STK10;FC=Synonymous_S252S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,161:161:99:4532,325,0:55:99:1.000 chr5 171785892 rs2569232 A G 2154.65 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.78;SB=-848.35;TI=NM_001017995;GI=SH3PXD2B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,70:70:99:2188,160,0:57:99:1.000 chr5 174156168 rs4242182 T C 1070.40 PASS DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58;MQ0=0;QD=36.91;SB=-39.32;TI=NM_002449;GI=MSX2;FC=Missense_M129T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:84.27:1103,84,0:58:84:1.000 chr5 174868840 rs155417 T C 3915.65 PASS DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6806;MQ=55;MQ0=0;QD=30.35;SB=-1872.62;TI=NM_000794;GI=DRD1;FC=Synonymous_S421S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:129:99:3916,286,0:55:99:1.000 chr5 176056529 rs4868669 A G 1077.63 PASS DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7950;MQ=53;MQ0=0;QD=23.95;SB=-670.01;TI=NM_003085,NM_001001502;GI=SNCB,SNCB;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:45:84.24:1111,84,0:53:84:1.000 chr5 176081907 rs11267007 C T 789.91 PASS BaseQRankSum=-0.576;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=52;MQ0=0;MQRankSum=2.515;QD=9.08;ReadPosRankSum=-0.091;SB=-464.04;TI=NM_012171,NM_001006616,NM_130465;GI=TSPAN17,TSPAN17,TSPAN17;FC=Synonymous_C156C,Synonymous_C156C,Synonymous_C156C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,35:87:99:820,0,1247:52:99:0.402 chr5 176370402 rs13360277 A G 819.56 PASS BaseQRankSum=-0.512;DP=71;Dels=0.00;FS=0.977;HRun=0;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=-0.316;QD=11.54;ReadPosRankSum=-0.477;SB=-381.29;TI=NM_016290,NM_001199297,NM_001199298;GI=UIMC1,UIMC1,UIMC1;FC=Missense_C511R,Missense_C511R,Missense_C511R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,35:71:99:850,0,963:59:99:0.493 chr5 176378574 rs365132 G T 1865.72 PASS DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=28.27;SB=-1259.81;TI=NM_016290,NM_001199297,NM_001199298;GI=UIMC1,UIMC1,UIMC1;FC=Synonymous_T448T,Synonymous_T448T,Synonymous_T448T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:66:99:1899,138,0:58:99:1.000 chr5 176382995 rs3733876 G A 815.98 PASS BaseQRankSum=1.202;DP=87;Dels=0.00;FS=0.834;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=1.021;QD=9.38;ReadPosRankSum=2.064;SB=-565.63;TI=NM_016290,NM_001199297,NM_001199298;GI=UIMC1,UIMC1,UIMC1;FC=Missense_P435L,Missense_P435L,Missense_P435L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,36:87:99:846,0,1193:53:99:0.414 chr5 176402401 rs1700490 G A 2402.80 PASS DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=56;MQ0=0;QD=30.42;SB=-1236.62;TI=NM_016290,NM_001199297,NM_001199298;GI=UIMC1,UIMC1,UIMC1;FC=Synonymous_I76I,Synonymous_I76I,Synonymous_I76I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2436,178,0:56:99:1.000 chr5 176516631 rs1966265 G A 898.61 PASS BaseQRankSum=-0.196;DP=97;Dels=0.00;FS=0.781;HRun=0;HaplotypeScore=4.5721;MQ=50;MQ0=0;MQRankSum=0.388;QD=9.26;ReadPosRankSum=1.946;SB=-649.56;TI=NM_213647,NM_002011,NM_022963;GI=FGFR4,FGFR4,FGFR4;FC=Missense_V10I,Missense_V10I,Missense_V10I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,42:97:99:929,0,1239:50:99:0.438 chr5 176517461 rs446382 T G 3400.84 PASS DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5215;MQ=54;MQ0=0;QD=29.32;SB=-1452.08;TI=NM_213647,NM_002011,NM_022963;GI=FGFR4,FGFR4,FGFR4;FC=Synonymous_R54R,Synonymous_R54R,Synonymous_R54R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:116:99:3401,253,0:54:99:1.000 chr5 176517797 rs376618 C T 5829.25 PASS DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0873;MQ=55;MQ0=0;QD=30.05;SB=-3473.82;TI=NM_213647,NM_002011,NM_022963;GI=FGFR4,FGFR4,FGFR4;FC=Missense_P136L,Missense_P136L,Missense_P136L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,192:194:99:5829,427,0:55:99:1.000 chr5 176518784 rs452885 C T 3974.53 PASS DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7776;MQ=55;MQ0=0;QD=27.60;SB=-2475.57;TI=NM_213647,NM_002011,NM_022963;GI=FGFR4,FGFR4,FGFR4;FC=Synonymous_R234R,Synonymous_R234R,Synonymous_R234R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,144:144:99:3975,283,0:55:99:1.000 chr5 176522728 rs42409 C T 1137.12 PASS BaseQRankSum=-2.426;DP=131;Dels=0.00;FS=4.564;HRun=0;HaplotypeScore=4.7872;MQ=53;MQ0=0;MQRankSum=2.239;QD=8.68;ReadPosRankSum=-1.260;SB=-442.90;TI=NM_213647,NM_002011,NM_022963;GI=FGFR4,FGFR4,FGFR4;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,47:131:99:1167,0,2331:53:99:0.359 chr5 176523597 rs31776 A G 6166.08 PASS DP=219;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5010;MQ=53;MQ0=0;QD=28.16;SB=-3925.32;TI=NM_213647,NM_002011,NM_022963;GI=FGFR4,FGFR4,FGFR4;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,219:219:99:6166,445,0:53:99:1.000 chr5 176636882 rs1363405 C T 2350.86 PASS BaseQRankSum=0.966;DP=185;Dels=0.00;FS=6.362;HRun=0;HaplotypeScore=8.3260;MQ=57;MQ0=0;MQRankSum=0.632;QD=12.71;ReadPosRankSum=-0.756;SB=-1325.01;TI=NM_172349,NM_022455;GI=NSD1,NSD1;FC=Synonymous_C225C,Synonymous_C494C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,85:185:99:2381,0,2695:57:99:0.459 chr5 176639105 rs28932181 T C 2506.62 PASS BaseQRankSum=2.459;DP=235;Dels=0.00;FS=0.479;HRun=0;HaplotypeScore=6.3055;MQ=53;MQ0=0;MQRankSum=2.271;QD=10.67;ReadPosRankSum=1.835;SB=-1703.34;TI=NM_172349,NM_022455;GI=NSD1,NSD1;FC=Synonymous_N966N,Synonymous_N1235N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,113:235:99:2537,0,2888:53:99:0.481 chr5 176721119 rs35848863 G A 4124.55 PASS BaseQRankSum=1.210;DP=323;Dels=0.00;FS=6.105;HRun=0;HaplotypeScore=16.1679;MQ=56;MQ0=0;MQRankSum=0.904;QD=12.77;ReadPosRankSum=0.768;SB=-2464.61;TI=NM_172349,NM_022455;GI=NSD1,NSD1;FC=Missense_M1981I,Missense_M2250I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:145,177:323:99:4125,0,3765:56:99:0.550 chr5 176721151 rs34165241 T C 3740.08 PASS BaseQRankSum=2.680;DP=253;Dels=0.00;FS=9.054;HRun=0;HaplotypeScore=15.2682;MQ=57;MQ0=0;MQRankSum=1.369;QD=14.78;ReadPosRankSum=-0.146;SB=-2343.24;TI=NM_172349,NM_022455;GI=NSD1,NSD1;FC=Missense_M1992T,Missense_M2261T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,141:253:99:3740,0,3006:57:99:0.557 chr5 176721198 rs28580074 T C 6993.65 PASS DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.7895;MQ=58;MQ0=0;QD=34.12;SB=-3498.81;TI=NM_172349,NM_022455;GI=NSD1,NSD1;FC=Synonymous_L2008L,Synonymous_L2277L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,205:205:99:6994,524,0:58:99:1.000 chr5 176722005 rs78247455 G A 742.50 PASS BaseQRankSum=1.666;DP=84;Dels=0.00;FS=3.167;HRun=0;HaplotypeScore=7.4232;MQ=57;MQ0=0;MQRankSum=1.778;QD=8.84;ReadPosRankSum=-0.266;SB=-347.88;TI=NM_172349,NM_022455;GI=NSD1,NSD1;FC=Missense_A2277T,Missense_A2546T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,30:84:99:772,0,1453:57:99:0.357 chr5 176814851 . G A 820.67 PASS BaseQRankSum=0.257;DP=67;Dels=0.00;FS=0.958;HRun=0;HaplotypeScore=15.4239;MQ=45;MQ0=0;MQRankSum=0.107;QD=12.25;ReadPosRankSum=0.483;SB=-381.96;TI=NM_001167579,NM_003052;GI=SLC34A1,SLC34A1;FC=Synonymous_A207A,Synonymous_A207A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,32:67:99:851,0,893:45:99:0.478 chr5 176814878 . A G 4.67 LowGQX;LowVariantFreq;SB BaseQRankSum=-2.648;DP=43;Dels=0.00;FS=23.441;HRun=6;HaplotypeScore=28.3051;MQ=41;MQ0=0;MQRankSum=-2.517;QD=0.11;ReadPosRankSum=-0.181;SB=-0.01;TI=NM_001167579,NM_003052;GI=SLC34A1,SLC34A1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,7:43:32.85:33,0,913:41:5:0.163 chr5 176814885 . C G 31.33 SB BaseQRankSum=-3.269;DP=45;Dels=0.04;FS=30.430;HRun=6;HaplotypeScore=37.0500;MQ=40;MQ0=0;MQRankSum=-2.463;QD=0.70;ReadPosRankSum=-1.836;SB=-0.01;TI=NM_001167579,NM_003052;GI=SLC34A1,SLC34A1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,9:43:61.32:61,0,881:40:31:0.209 chr5 176815124 rs5030873 T C 1811.53 PASS BaseQRankSum=1.410;DP=137;Dels=0.00;FS=1.354;HRun=0;HaplotypeScore=7.3573;MQ=53;MQ0=0;MQRankSum=0.793;QD=13.22;ReadPosRankSum=-1.367;SB=-1075.69;TI=NM_001167579,NM_003052;GI=SLC34A1,SLC34A1;FC=Synonymous_H258H,Synonymous_H258H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,74:137:99:1842,0,1426:53:99:0.540 chr5 176830627 rs17876032 G A 2120.33 PASS BaseQRankSum=1.594;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4367;MQ=54;MQ0=0;MQRankSum=-0.531;QD=27.54;ReadPosRankSum=-0.162;SB=-1038.57;TI=NM_000505;GI=F12;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,74:77:99:2153,162,0:54:99:0.987 chr5 176831826 rs17876030 C G 5222.95 PASS DP=180;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6475;MQ=55;MQ0=0;QD=29.02;SB=-3251.25;TI=NM_000505;GI=F12;FC=Missense_A207P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,180:180:99:5223,382,0:55:99:1.000 chr5 176836532 rs1801020 A G 2315.82 PASS BaseQRankSum=1.573;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=53;MQ0=0;MQRankSum=1.175;QD=26.62;ReadPosRankSum=0.458;SB=-1444.51;TI=NM_000505;GI=F12;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,86:87:99:2349,169,0:53:99:0.989 chr5 177031348 rs11537644 T C 2579.73 PASS BaseQRankSum=1.232;DP=176;Dels=0.00;FS=5.768;HRun=0;HaplotypeScore=12.7842;MQ=57;MQ0=0;MQRankSum=1.856;QD=14.66;ReadPosRankSum=0.281;SB=-963.86;TI=NM_007255;GI=B4GALT7;FC=Synonymous_R73R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,91:176:99:2610,0,2242:57:99:0.517 chr5 177035964 rs729459 T C 2466.11 PASS DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=29.01;SB=-1467.75;TI=NM_007255;GI=B4GALT7;FC=Synonymous_H259H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2499,181,0:53:99:1.000 chr5 177419967 rs1800197 C T 2045.20 PASS BaseQRankSum=3.221;DP=158;Dels=0.00;FS=3.866;HRun=0;HaplotypeScore=17.9301;MQ=51;MQ0=0;MQRankSum=-1.768;QD=12.94;ReadPosRankSum=3.407;SB=-1526.67;TI=NM_006261;GI=PROP1;FC=Missense_A142T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,92:158:99:2075,0,1550:51:99:0.582 chr5 177422823 rs4072924 C T 700.94 PASS BaseQRankSum=-0.311;DP=65;Dels=0.00;FS=7.828;HRun=1;HaplotypeScore=0.9998;MQ=54;MQ0=0;MQRankSum=0.298;QD=10.78;ReadPosRankSum=1.278;SB=-341.02;TI=NM_006261;GI=PROP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,28:65:99:731,0,1121:54:99:0.431 chr5 177422876 rs7445271 T C 3470.83 PASS DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7798;MQ=56;MQ0=0;QD=28.92;SB=-1784.92;TI=NM_006261;GI=PROP1;FC=Missense_N20S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:120:99:3471,250,0:56:99:1.000 chr5 177422908 rs1135320 A G 1820.11 PASS BaseQRankSum=0.277;DP=141;Dels=0.00;FS=2.158;HRun=1;HaplotypeScore=6.3643;MQ=56;MQ0=0;MQRankSum=4.326;QD=12.91;ReadPosRankSum=2.861;SB=-1173.88;TI=NM_006261;GI=PROP1;FC=Synonymous_A9A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,80:141:99:1850,0,1366:56:99:0.567 chr5 177580828 . C A 696.87 PASS BaseQRankSum=0.145;DP=45;Dels=0.00;FS=4.777;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=-0.265;QD=15.49;ReadPosRankSum=1.543;SB=-398.71;TI=NM_017838,NM_001034833;GI=NHP2,NHP2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,27:45:99:727,0,478:56:99:0.614 chr5 178409927 rs17078874 G A 2013.93 PASS BaseQRankSum=1.961;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3089;MQ=54;MQ0=0;MQRankSum=0.121;QD=11.13;ReadPosRankSum=-1.447;SB=-1310.43;TI=NM_000843;GI=GRM6;FC=Missense_A807V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,87:181:99:2044,0,2209:54:99:0.481 chr5 178410151 rs2071247 C T 1704.68 PASS BaseQRankSum=0.531;DP=157;Dels=0.00;FS=5.811;HRun=0;HaplotypeScore=0.8667;MQ=52;MQ0=0;MQRankSum=2.150;QD=10.86;ReadPosRankSum=0.418;SB=-1077.40;TI=NM_000843;GI=GRM6;FC=Synonymous_T732T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,71:157:99:1735,0,2199:52:99:0.452 chr5 178413947 rs11746675 T C 2002.94 PASS BaseQRankSum=2.353;DP=209;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.9315;MQ=54;MQ0=0;MQRankSum=2.311;QD=9.58;ReadPosRankSum=-1.274;SB=-1244.33;TI=NM_000843;GI=GRM6;FC=Synonymous_G464G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,90:209:99:2033,0,2697:54:99:0.431 chr5 178415937 rs2067011 A G 3013.49 PASS BaseQRankSum=1.356;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.2450;MQ=55;MQ0=0;MQRankSum=1.782;QD=14.08;ReadPosRankSum=-0.076;SB=-1762.03;TI=NM_000843;GI=GRM6;FC=Synonymous_N451N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,121:214:99:3043,0,2028:55:99:0.565 chr5 178415982 rs4701014 A G 7335.58 PASS DP=270;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.8752;MQ=53;MQ0=0;QD=27.17;SB=-5126.70;TI=NM_000843;GI=GRM6;FC=Synonymous_T436T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,270:270:99:7336,527,0:53:99:1.000 chr5 178416063 rs2645339 G A 2751.24 PASS BaseQRankSum=3.283;DP=222;Dels=0.00;FS=3.116;HRun=0;HaplotypeScore=8.7693;MQ=53;MQ0=0;MQRankSum=2.069;QD=12.39;ReadPosRankSum=-0.155;SB=-1272.12;TI=NM_000843;GI=GRM6;FC=Synonymous_Y409Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,110:222:99:2781,0,2695:53:99:0.498 chr5 178416288 rs2071246 G A 2514.62 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7541;MQ=52;MQ0=0;QD=27.63;SB=-1604.21;TI=NM_000843;GI=GRM6;FC=Synonymous_D377D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2548,190,0:52:99:1.000 chr5 178421770 rs2645329 T G 832.18 PASS BaseQRankSum=2.750;DP=58;Dels=0.00;FS=1.105;HRun=1;HaplotypeScore=8.3567;MQ=54;MQ0=0;MQRankSum=0.525;QD=14.35;ReadPosRankSum=-1.081;SB=-386.69;TI=NM_000843;GI=GRM6;FC=Missense_Q59P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,35:58:99:862,0,445:54:99:0.603 chr5 178634619 rs423552 C T 1723.85 PASS BaseQRankSum=2.429;DP=155;Dels=0.00;FS=1.265;HRun=0;HaplotypeScore=2.7260;MQ=51;MQ0=0;MQRankSum=-0.754;QD=11.12;ReadPosRankSum=0.002;SB=-1202.12;TI=NM_014244,NM_021599;GI=ADAMTS2,ADAMTS2;FC=Synonymous_A262A,Synonymous_A262A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,80:155:99:1754,0,1683:51:99:0.516 chr5 178634672 rs398829 C T 879.63 PASS BaseQRankSum=0.371;DP=67;Dels=0.00;FS=2.091;HRun=0;HaplotypeScore=0.8667;MQ=55;MQ0=0;MQRankSum=2.647;QD=13.13;ReadPosRankSum=0.962;SB=-543.16;TI=NM_014244,NM_021599;GI=ADAMTS2,ADAMTS2;FC=Missense_V245I,Missense_V245I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,36:67:99:910,0,747:55:99:0.537 chr5 179260153 rs4935 C T 921.13 PASS BaseQRankSum=1.848;DP=89;Dels=0.00;FS=1.755;HRun=0;HaplotypeScore=3.5489;MQ=52;MQ0=0;MQRankSum=1.461;QD=10.35;ReadPosRankSum=-0.465;SB=-647.28;TI=NM_001142298,NM_001142299,NM_003900;GI=SQSTM1,SQSTM1,SQSTM1;FC=Synonymous_D208D,Synonymous_D208D,Synonymous_D292D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,41:89:99:951,0,1244:52:99:0.461 chr5 179260213 rs4797 G A 663.26 PASS BaseQRankSum=1.713;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=57;MQ0=0;MQRankSum=2.205;QD=13.01;ReadPosRankSum=0.350;SB=-231.21;TI=NM_001142298,NM_001142299,NM_003900;GI=SQSTM1,SQSTM1,SQSTM1;FC=Synonymous_R228R,Synonymous_R228R,Synonymous_R312R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,23:51:99:693,0,719:57:99:0.451 chr5 179729519 rs1035411 A G 2118.33 PASS BaseQRankSum=1.879;DP=192;Dels=0.00;FS=3.287;HRun=0;HaplotypeScore=11.9045;MQ=51;MQ0=0;MQRankSum=1.703;QD=11.03;ReadPosRankSum=-1.070;SB=-1358.05;TI=NM_005110;GI=GFPT2;FC=Synonymous_I636I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,94:192:99:2148,0,2184:51:99:0.492 chr5 179734312 rs3763131 T C 1893.95 PASS BaseQRankSum=0.682;DP=168;Dels=0.00;FS=2.740;HRun=0;HaplotypeScore=10.0627;MQ=51;MQ0=0;MQRankSum=-2.168;QD=11.27;ReadPosRankSum=-1.498;SB=-1225.85;TI=NM_005110;GI=GFPT2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,87:168:99:1924,0,1952:51:99:0.518 chr5 179740827 rs2303007 T C 1147.93 PASS BaseQRankSum=2.538;DP=152;Dels=0.00;FS=3.140;HRun=1;HaplotypeScore=9.7661;MQ=51;MQ0=0;MQRankSum=0.096;QD=7.55;ReadPosRankSum=0.679;SB=-565.13;TI=NM_005110;GI=GFPT2;FC=Missense_I471V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,55:152:99:1178,0,2172:51:99:0.362 chr5 180046344 rs448012 G C 2245.98 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2203;MQ=43;MQ0=0;QD=27.06;SB=-1230.25;TI=NM_182925,NM_002020;GI=FLT4,FLT4;FC=Missense_H890Q,Missense_H890Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:83:99:2279,175,0:43:99:1.000 chr5 180218668 rs634501 A G 4068.87 PASS DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=57;MQ0=0;QD=27.68;SB=-2422.45;TI=NM_002406,NM_001114619,NM_001114620,NM_001114618,NM_001114617;GI=MGAT1,MGAT1,MGAT1,MGAT1,MGAT1;FC=Missense_L435P,Missense_L435P,Missense_L435P,Missense_L435P,Missense_L435P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,147:147:99:4069,298,0:57:99:1.000 chr6 656143 rs1211554 C A 1260.61 PASS BaseQRankSum=-1.135;DP=156;Dels=0.00;FS=0.610;HRun=0;HaplotypeScore=8.1577;MQ=55;MQ0=0;MQRankSum=1.780;QD=8.08;ReadPosRankSum=-2.077;SB=-963.16;TI=NM_018303,NM_148959;GI=EXOC2,HUS1B;FC=Silent,Missense_D268Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,62:156:99:1291,0,2262:55:99:0.397 chr6 656343 rs17136239 T C 3059.01 PASS BaseQRankSum=3.413;DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6717;MQ=53;MQ0=0;MQRankSum=1.936;QD=13.48;ReadPosRankSum=1.150;SB=-1906.29;TI=NM_018303,NM_148959;GI=EXOC2,HUS1B;FC=Silent,Missense_Q201R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,119:227:99:3089,0,2671:53:99:0.524 chr6 656810 rs61748571 A G 870.16 PASS BaseQRankSum=1.559;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5305;MQ=58;MQ0=0;MQRankSum=0.960;QD=11.16;ReadPosRankSum=-0.178;SB=-339.61;TI=NM_018303,NM_148959;GI=EXOC2,HUS1B;FC=Silent,Synonymous_G45G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,32:78:99:900,0,1241:58:99:0.410 chr6 1391085 . G GGGC 415.64 PASS BaseQRankSum=0.985;DP=22;FS=1.740;HRun=0;HaplotypeScore=34.6478;MQ=60;MQ0=0;MQRankSum=1.839;QD=18.89;ReadPosRankSum=-1.051;SB=-181.23;TI=NM_001452;GI=FOXF2;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,10:22:99:455,0,484:60:99:0.476 chr6 2955802 rs2295769 T C 1287.89 PASS BaseQRankSum=-2.366;DP=108;Dels=0.00;FS=0.729;HRun=2;HaplotypeScore=3.8095;MQ=51;MQ0=0;MQRankSum=1.481;QD=11.92;ReadPosRankSum=-1.106;SB=-740.96;TI=NM_004568,NM_001195291;GI=SERPINB6,SERPINB6;FC=Missense_M90V,Missense_M90V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,53:108:99:1318,0,1371:51:99:0.491 chr6 3010390 rs1143684 C T 5121.75 PASS DP=180;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=52;MQ0=0;QD=28.45;SB=-3208.78;TI=NM_000904;GI=NQO2;FC=Missense_L47F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,180:180:99:5122,370,0:52:99:1.000 chr6 3015790 rs1049115 A G 1922.84 PASS DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=28.28;SB=-1244.92;TI=NM_000904;GI=NQO2;FC=Synonymous_P110P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:1956,141,0:52:99:1.000 chr6 5369409 rs17851782 G A 513.83 PASS BaseQRankSum=0.776;DP=38;Dels=0.00;FS=5.092;HRun=2;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=-0.776;QD=13.52;ReadPosRankSum=-1.344;SB=-390.17;TI=NM_006567;GI=FARS2;FC=Synonymous_K202K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,23:38:99:544,0,410:55:99:0.605 chr6 6152137 rs5988 C G 1707.23 PASS BaseQRankSum=3.193;DP=156;Dels=0.00;FS=5.869;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=0.483;QD=10.94;ReadPosRankSum=-0.305;SB=-1061.10;TI=NM_000129;GI=F13A1;FC=Missense_E652Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,73:156:99:1737,0,1780:52:99:0.468 chr6 7563983 rs2806234 T G 2729.80 PASS DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=28.14;SB=-1638.92;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_A247A,Synonymous_A247A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:2763,199,0:55:99:1.000 chr6 7572262 rs2076304 A G 1098.61 PASS DP=33;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=33.29;SB=-276.04;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_G697G,Synonymous_G697G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:84.27:1132,84,0:58:84:1.000 chr6 7576527 rs1016835 G A 373.41 PASS BaseQRankSum=-0.455;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7876;MQ=55;MQ0=0;MQRankSum=-1.039;QD=6.55;ReadPosRankSum=0.094;SB=-207.90;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Unknown_877,Unknown_877;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,18:57:99:403,0,968:55:99:0.316 chr6 7577260 rs2064217 C T 912.70 PASS BaseQRankSum=1.268;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8938;MQ=56;MQ0=0;MQRankSum=1.216;QD=12.01;ReadPosRankSum=-1.923;SB=-483.94;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_C954C,Synonymous_C954C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,39:76:99:943,0,922:56:99:0.513 chr6 7580958 rs2076299 A G 5044.49 PASS BaseQRankSum=1.225;DP=372;Dels=0.00;FS=0.380;HRun=0;HaplotypeScore=18.4817;MQ=56;MQ0=0;MQRankSum=2.149;QD=13.56;ReadPosRankSum=1.988;SB=-2749.44;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Missense_Y1512C,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:175,197:372:99:5044,0,4347:56:99:0.530 chr6 7581636 rs6929069 G A 543.96 PASS BaseQRankSum=0.117;DP=38;Dels=0.00;FS=1.805;HRun=2;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.781;QD=14.31;ReadPosRankSum=0.701;SB=-106.26;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Missense_R1738Q,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,19:38:99:574,0,561:55:99:0.500 chr6 7585967 rs2744380 G C 646.27 PASS BaseQRankSum=1.814;DP=44;Dels=0.00;FS=4.549;HRun=0;HaplotypeScore=3.5215;MQ=58;MQ0=0;MQRankSum=0.134;QD=14.69;ReadPosRankSum=1.084;SB=-25.60;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_G2824G,Synonymous_G2225G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,20:44:99:676,0,706:58:99:0.465 chr6 10398707 rs3734391 G A 1315.79 PASS BaseQRankSum=0.632;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7307;MQ=55;MQ0=0;MQRankSum=-0.291;QD=13.85;ReadPosRankSum=-0.019;SB=-803.74;TI=NM_001032280,NM_003220,NM_001042425;GI=TFAP2A,TFAP2A,TFAP2A;FC=Synonymous_N413N,Synonymous_N419N,Synonymous_N415N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,56:95:99:1346,0,961:55:99:0.589 chr6 10410434 . T G 143.02 SB BaseQRankSum=-1.319;DP=50;Dels=0.00;FS=12.708;HRun=6;HaplotypeScore=46.7399;MQ=47;MQ0=0;MQRankSum=-2.927;QD=2.86;ReadPosRankSum=-1.595;SB=-0.01;TI=NM_001032280,NM_003220,NM_001042425;GI=TFAP2A,TFAP2A,TFAP2A;FC=Synonymous_P54P,Synonymous_P60P,Synonymous_P56P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,11:50:99:173,0,984:47:99:0.234 chr6 10410442 . A G 9.40 LowGQX;LowVariantFreq;SB BaseQRankSum=-2.314;DP=43;Dels=0.02;FS=10.590;HRun=1;HaplotypeScore=75.5252;MQ=42;MQ0=0;MQRankSum=-2.563;QD=0.22;ReadPosRankSum=-0.427;SB=-0.01;TI=NM_001032280,NM_003220,NM_001042425;GI=TFAP2A,TFAP2A,TFAP2A;FC=Missense_F52L,Missense_F58L,Missense_F54L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,7:42:38.86:39,0,785:42:9:0.175 chr6 10410446 . T G 46.43 LowVariantFreq;SB BaseQRankSum=-1.440;DP=46;Dels=0.00;FS=17.527;HRun=5;HaplotypeScore=80.0615;MQ=43;MQ0=0;MQRankSum=-2.538;QD=1.01;ReadPosRankSum=-0.134;SB=-0.01;TI=NM_001032280,NM_003220,NM_001042425;GI=TFAP2A,TFAP2A,TFAP2A;FC=Synonymous_P50P,Synonymous_P56P,Synonymous_P52P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,8:46:76.42:76,0,767:43:46:0.178 chr6 10410460 . C G 11.64 SB BaseQRankSum=-2.157;DP=46;Dels=0.04;FS=10.193;HRun=2;HaplotypeScore=110.3897;MQ=39;MQ0=0;MQRankSum=-2.992;QD=0.25;ReadPosRankSum=-0.598;SB=-0.01;TI=NM_001032280,NM_003220,NM_001042425;GI=TFAP2A,TFAP2A,TFAP2A;FC=Missense_D46H,Missense_D52H,Missense_D48H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,11:44:41.32:41,0,625:39:12:0.256 chr6 10410463 . C G 23.04 LowVariantFreq;SB BaseQRankSum=-0.259;DP=49;Dels=0.00;FS=18.524;HRun=2;HaplotypeScore=96.4416;MQ=39;MQ0=0;MQRankSum=-3.032;QD=0.47;ReadPosRankSum=0.407;SB=-0.01;TI=NM_001032280,NM_003220,NM_001042425;GI=TFAP2A,TFAP2A,TFAP2A;FC=Missense_A45P,Missense_A51P,Missense_A47P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,5:49:53.01:53,0,651:39:23:0.114 chr6 10587038 rs539351 C G 3190.93 PASS DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=32.23;SB=-944.65;TI=NM_145649,NM_001491,NM_145655;GI=GCNT2,GCNT2,GCNT2;FC=Silent,Silent,Missense_D272E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,99:99:99:3224,235,0:56:99:1.000 chr6 10587056 rs71548508 A G 1120.01 PASS BaseQRankSum=2.333;DP=84;Dels=0.00;FS=5.099;HRun=0;HaplotypeScore=1.9891;MQ=56;MQ0=0;MQRankSum=1.214;QD=13.33;ReadPosRankSum=0.739;SB=-221.15;TI=NM_145649,NM_001491,NM_145655;GI=GCNT2,GCNT2,GCNT2;FC=Silent,Silent,Synonymous_L278L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,40:84:99:1150,0,1168:56:99:0.476 chr6 10764727 rs126405 A G 2004.51 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=54;MQ0=0;QD=27.46;SB=-1039.29;TI=NM_005906;GI=MAK;FC=Synonymous_H610H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2038,147,0:54:99:1.000 chr6 11185533 rs1050775 G A 1596.67 PASS BaseQRankSum=-0.547;DP=124;Dels=0.00;FS=0.692;HRun=0;HaplotypeScore=3.5215;MQ=57;MQ0=0;MQRankSum=1.842;QD=12.88;ReadPosRankSum=1.797;SB=-794.33;TI=NM_006403,NM_001142393;GI=NEDD9,NEDD9;FC=Synonymous_T789T,Synonymous_T789T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,62:124:99:1627,0,1632:57:99:0.500 chr6 11190626 rs941982 A G 6801.69 PASS DP=219;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.1905;MQ=58;MQ0=0;QD=31.06;SB=-3677.37;TI=NM_006403,NM_001142393;GI=NEDD9,NEDD9;FC=Synonymous_V492V,Synonymous_V492V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,219:219:99:6802,506,0:58:99:1.000 chr6 11192575 rs1465131 C T 1365.12 PASS DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8939;MQ=53;MQ0=0;QD=24.82;SB=-976.84;TI=NM_006403,NM_001142393;GI=NEDD9,NEDD9;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1398,99,0:53:99:1.000 chr6 12294258 rs5369 A G 6273.97 PASS DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8295;MQ=57;MQ0=0;QD=30.16;SB=-3393.37;TI=NM_001955,NM_001168319;GI=EDN1,EDN1;FC=Synonymous_E106E,Synonymous_E105E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,206:208:99:6274,460,0:57:99:1.000 chr6 13592135 rs3734674 C T 1894.33 PASS BaseQRankSum=0.320;DP=166;Dels=0.00;FS=0.618;HRun=0;HaplotypeScore=9.0335;MQ=56;MQ0=0;MQRankSum=0.724;QD=11.41;ReadPosRankSum=1.122;SB=-841.94;TI=NM_031244,NM_001193267,NM_012241;GI=SIRT5,SIRT5,SIRT5;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,79:166:99:1924,0,2231:56:99:0.476 chr6 13599303 rs3757261 C T 1942.13 PASS BaseQRankSum=-2.299;DP=172;Dels=0.00;FS=4.426;HRun=0;HaplotypeScore=8.4136;MQ=56;MQ0=0;MQRankSum=-0.813;QD=11.29;ReadPosRankSum=-0.452;SB=-1147.95;TI=NM_031244,NM_001193267,NM_012241;GI=SIRT5,SIRT5,SIRT5;FC=Synonymous_H219H,Synonymous_H201H,Synonymous_H219H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,84:172:99:1972,0,1946:56:99:0.488 chr6 15523793 rs5874516 C CT 155.32 LowVariantFreq;R8 BaseQRankSum=0.893;DP=44;FS=0.000;HRun=14;HaplotypeScore=225.2328;MQ=54;MQ0=1;MQRankSum=0.383;QD=3.53;ReadPosRankSum=-0.099;SB=-17.61;TI=NM_032122;GI=DTNBP1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,6:43:99:194,0,144:54:99:0.167 chr6 15523807 rs34782642 T TA 702.91 PASS BaseQRankSum=-1.229;DP=47;FS=0.000;HRun=1;HaplotypeScore=178.7803;MQ=55;MQ0=1;MQRankSum=1.086;QD=14.96;ReadPosRankSum=-2.566;SB=-66.75;TI=NM_032122,NM_183040,NR_036448;GI=DTNBP1,DTNBP1,DTNBP1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,19:46:99:742,0,304:55:99:0.432 chr6 15593319 . GA G 85.48 LowVariantFreq;R8 BaseQRankSum=0.454;DP=61;FS=1.312;HRun=14;HaplotypeScore=233.6775;MQ=53;MQ0=0;MQRankSum=-0.918;QD=1.40;ReadPosRankSum=0.732;SB=-41.70;TI=NM_032122,NM_183040,NR_036448;GI=DTNBP1,DTNBP1,DTNBP1;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,9:61:99:125,0,734:53:85:0.176 chr6 16145325 rs9370867 A G 1318.08 PASS DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=32.95;SB=-659.84;TI=NM_013262;GI=MYLIP;FC=Missense_N342S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:40:99:1351,99,0:55:99:1.000 chr6 16145473 rs1060901 C T 866.04 PASS BaseQRankSum=1.703;DP=63;Dels=0.00;FS=3.528;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.476;QD=13.75;ReadPosRankSum=0.531;SB=-436.75;TI=NM_013262;GI=MYLIP;FC=Synonymous_C391C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,34:63:99:896,0,708:53:99:0.540 chr6 16327330 rs2075974 T C 2885.06 PASS BaseQRankSum=0.512;DP=224;Dels=0.00;FS=3.011;HRun=1;HaplotypeScore=15.9568;MQ=54;MQ0=0;MQRankSum=2.095;QD=12.88;ReadPosRankSum=-0.620;SB=-1733.25;TI=NM_000332,NM_001128164;GI=ATXN1,ATXN1;FC=Synonymous_E404E,Synonymous_E404E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,116:224:99:2915,0,2653:54:99:0.520 chr6 16327615 rs179990 A G 3011.95 PASS BaseQRankSum=0.374;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.5931;MQ=56;MQ0=0;MQRankSum=1.698;QD=29.24;ReadPosRankSum=1.562;SB=-1536.83;TI=NM_000332,NM_001128164;GI=ATXN1,ATXN1;FC=Synonymous_A309A,Synonymous_A309A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,101:103:99:3045,207,0:56:99:0.990 chr6 16327900 . C A 205.63 LowVariantFreq;SB BaseQRankSum=0.347;DP=184;Dels=0.00;FS=73.524;HRun=0;HaplotypeScore=109.3740;MQ=54;MQ0=0;MQRankSum=1.236;QD=1.12;ReadPosRankSum=-6.423;SB=-0.01;TI=NM_000332,NM_001128164;GI=ATXN1,ATXN1;FC=Missense_Q214H,Missense_Q214H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:159,25:184:99:236,0,4457:54:99:0.136 chr6 16327906 . C A 624.79 PASS BaseQRankSum=-0.028;DP=188;Dels=0.00;FS=36.002;HRun=0;HaplotypeScore=152.1483;MQ=53;MQ0=0;MQRankSum=-0.077;QD=3.32;ReadPosRankSum=-5.949;SB=-59.93;TI=NM_000332,NM_001128164;GI=ATXN1,ATXN1;FC=Missense_Q212H,Missense_Q212H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:147,40:188:99:655,0,3914:53:99:0.214 chr6 16327909 rs59310777 A C 1242.60 PASS BaseQRankSum=1.098;DP=187;Dels=0.01;FS=2.880;HRun=0;HaplotypeScore=175.8283;MQ=53;MQ0=0;MQRankSum=1.805;QD=6.64;ReadPosRankSum=-6.043;SB=-858.94;TI=NM_000332,NM_001128164;GI=ATXN1,ATXN1;FC=Missense_H211Q,Missense_H211Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,64:186:99:1273,0,2975:53:99:0.346 chr6 16327912 . C A 1149.72 PASS BaseQRankSum=-0.747;DP=195;Dels=0.00;FS=5.913;HRun=0;HaplotypeScore=147.1490;MQ=53;MQ0=0;MQRankSum=3.262;QD=5.90;ReadPosRankSum=-5.631;SB=-758.39;TI=NM_000332,NM_001128164;GI=ATXN1,ATXN1;FC=Missense_Q210H,Missense_Q210H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:132,62:195:99:1180,0,3268:53:99:0.320 chr6 16327915 rs11969612 A C 1464.41 PASS BaseQRankSum=1.132;DP=196;Dels=0.02;FS=5.712;HRun=0;HaplotypeScore=110.7711;MQ=53;MQ0=0;MQRankSum=0.653;QD=7.47;ReadPosRankSum=-6.059;SB=-824.56;TI=NM_000332,NM_001128164;GI=ATXN1,ATXN1;FC=Missense_H209Q,Missense_H209Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,69:192:99:1494,0,3039:53:99:0.361 chr6 16327918 rs28555263 C A 289.91 LowVariantFreq;SB BaseQRankSum=-0.798;DP=197;Dels=0.00;FS=32.277;HRun=0;HaplotypeScore=86.0172;MQ=53;MQ0=0;MQRankSum=2.997;QD=1.47;ReadPosRankSum=-3.308;SB=-0.01;TI=NM_000332,NM_001128164;GI=ATXN1,ATXN1;FC=Missense_Q208H,Missense_Q208H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:164,33:197:99:320,0,4346:53:99:0.168 chr6 18122526 . A G 1626.61 PASS BaseQRankSum=1.074;DP=107;Dels=0.00;FS=2.656;HRun=1;HaplotypeScore=5.5589;MQ=56;MQ0=0;MQRankSum=-2.304;QD=15.20;ReadPosRankSum=-0.424;SB=-694.04;TI=NM_198586;GI=NHLRC1;FC=Synonymous_H104H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,60:107:99:1657,0,1245:56:99:0.566 chr6 18139214 rs2842934;rs56622291 G A 575.76 PASS BaseQRankSum=0.187;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=1.363;QD=9.29;ReadPosRankSum=-0.732;SB=-350.54;TI=NM_000367;GI=TPMT;FC=Synonymous_I158I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,25:62:99:606,0,1007:54:99:0.403 chr6 24174955 rs9358755 G C 1730.25 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=24.72;SB=-1330.24;TI=NM_016356,NM_001195610;GI=DCDC2,DCDC2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,70:70:99:1763,123,0:54:99:1.000 chr6 24291203 rs2274305 T C 1929.02 PASS BaseQRankSum=0.929;DP=162;Dels=0.00;FS=3.659;HRun=1;HaplotypeScore=4.7821;MQ=54;MQ0=0;MQRankSum=3.800;QD=11.91;ReadPosRankSum=2.848;SB=-960.08;TI=NM_016356,NM_001195610;GI=DCDC2,DCDC2;FC=Missense_S221G,Missense_S221G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,73:162:99:1959,0,2294:54:99:0.451 chr6 24503590 rs2760118 C T 1101.52 PASS BaseQRankSum=1.815;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6818;MQ=56;MQ0=0;MQRankSum=0.004;QD=12.10;ReadPosRankSum=1.243;SB=-541.34;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Missense_H180Y,Missense_H180Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,44:91:99:1132,0,1222:56:99:0.484 chr6 24505221 rs2817220 G A 349.71 PASS BaseQRankSum=1.155;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7267;MQ=57;MQ0=0;MQRankSum=2.022;QD=9.71;ReadPosRankSum=-0.513;SB=-159.76;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,15:36:99:380,0,509:57:99:0.417 chr6 24551664 rs807534 T C 750.13 PASS BaseQRankSum=1.311;DP=70;Dels=0.00;FS=0.959;HRun=0;HaplotypeScore=2.8937;MQ=57;MQ0=0;MQRankSum=2.408;QD=10.72;ReadPosRankSum=-0.858;SB=-324.08;TI=NM_001168376,NM_001168375,NM_001168374,NM_001168377,NM_014809;GI=KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319;FC=Missense_Y968C,Missense_Y1013C,Missense_Y1004C,Silent,Missense_Y1013C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,29:70:99:780,0,1094:57:99:0.414 chr6 24551729 rs807535 T C 858.27 PASS BaseQRankSum=1.379;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9890;MQ=55;MQ0=0;MQRankSum=2.649;QD=7.73;ReadPosRankSum=2.706;SB=-479.42;TI=NM_001168376,NM_001168375,NM_001168374,NM_001168377,NM_014809;GI=KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319;FC=Synonymous_K946K,Synonymous_K991K,Synonymous_K982K,Silent,Synonymous_K991K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,37:111:99:888,0,1730:55:99:0.333 chr6 24559281 rs807541 A G 789.77 PASS BaseQRankSum=-1.054;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8936;MQ=52;MQ0=0;MQRankSum=0.193;QD=11.79;ReadPosRankSum=2.004;SB=-507.18;TI=NM_001168376,NM_001168375,NM_001168374,NM_001168377,NM_014809;GI=KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319;FC=Synonymous_A853A,Synonymous_A898A,Synonymous_A889A,Synonymous_A898A,Synonymous_A898A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,35:67:99:820,0,728:52:99:0.530 chr6 24580185 rs11449343 C CA 1247.61 PASS BaseQRankSum=0.548;DP=105;FS=0.000;HRun=8;HaplotypeScore=75.2702;MQ=56;MQ0=0;MQRankSum=4.086;QD=11.88;ReadPosRankSum=0.631;SB=-541.68;TI=NM_001168376,NM_001168375,NM_001168374,NM_001168377,NM_014809;GI=KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,51:105:99:1287,0,1374:56:99:0.490 chr6 24596478 rs4576240 T G 1964.64 PASS DP=60;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2752;MQ=57;MQ0=0;QD=32.74;SB=-776.37;TI=NM_001168376,NM_001168375,NM_001168374,NM_001168377,NM_014809;GI=KIAA0319,KIAA0319,KIAA0319,KIAA0319,KIAA0319;FC=Missense_T97P,Missense_T142P,Missense_T133P,Missense_T142P,Missense_T142P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:1998,150,0:57:99:1.000 chr6 25813150 rs1165196 G A 10257.58 PASS DP=355;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=28.89;SB=-5621.63;TI=NM_005074;GI=SLC17A1;FC=Missense_T269I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,355:355:99:10258,734,0:53:99:1.000 chr6 25849620 rs942379 A G 2062.14 PASS DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.64;SB=-1434.48;TI=NM_001098486,NM_006632;GI=SLC17A3,SLC17A3;FC=Synonymous_S448S,Synonymous_S370S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:2095,150,0:54:99:1.000 chr6 25862466 rs1165165 C T 635.09 PASS BaseQRankSum=-0.410;DP=49;Dels=0.00;FS=1.121;HRun=0;HaplotypeScore=4.6818;MQ=55;MQ0=0;MQRankSum=1.730;QD=12.96;ReadPosRankSum=-0.410;SB=-399.54;TI=NM_001098486,NM_006632;GI=SLC17A3,SLC17A3;FC=Missense_A100T,Missense_A100T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,25:49:99:665,0,603:55:99:0.510 chr6 26091336 rs2071303 T C 1174.84 PASS DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=35.60;SB=-235.33;TI=NM_139011,NM_139007,NM_139004,NM_000410,NM_139006,NM_139010,NM_139003,NM_139008,NM_139009;GI=HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE,HFE;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:93.30:1208,93,0:59:93:1.000 chr6 26468319 rs3734541 C T 384.11 PASS BaseQRankSum=0.800;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-0.160;QD=8.93;ReadPosRankSum=1.416;SB=-231.44;TI=NM_007049,NM_078476,NM_001197234,NM_001197233;GI=BTN2A1,BTN2A1,BTN2A1,BTN2A1;FC=Synonymous_L376L,Silent,Silent,Synonymous_L315L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,18:43:99:414,0,626:57:99:0.419 chr6 28264692 rs3800325 C G 997.63 PASS BaseQRankSum=1.273;DP=104;Dels=0.00;FS=1.589;HRun=0;HaplotypeScore=2.8771;MQ=52;MQ0=0;MQRankSum=-0.998;QD=9.59;ReadPosRankSum=-1.574;SB=-626.95;TI=NM_032507,NM_001184743;GI=PGBD1,PGBD1;FC=Missense_Q248E,Missense_Q248E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,46:104:99:1028,0,1462:52:99:0.442 chr6 28264717 rs3800326 C T 542.86 PASS BaseQRankSum=1.903;DP=73;Dels=0.00;FS=0.937;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=-0.280;QD=7.44;ReadPosRankSum=0.748;SB=-355.51;TI=NM_032507,NM_001184743;GI=PGBD1,PGBD1;FC=Missense_P256L,Missense_P256L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,27:73:99:573,0,1289:54:99:0.370 chr6 28268497 rs2281043 C T 860.31 PASS BaseQRankSum=1.194;DP=69;Dels=0.00;FS=3.305;HRun=0;HaplotypeScore=3.6796;MQ=56;MQ0=0;MQRankSum=1.758;QD=12.47;ReadPosRankSum=-0.234;SB=-484.81;TI=NM_032507,NM_001184743;GI=PGBD1,PGBD1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,34:69:99:890,0,845:56:99:0.493 chr6 28269663 rs1997660 A G 759.75 PASS BaseQRankSum=-0.037;DP=44;Dels=0.00;FS=7.593;HRun=0;HaplotypeScore=5.4662;MQ=59;MQ0=0;MQRankSum=1.724;QD=17.27;ReadPosRankSum=0.599;SB=-329.70;TI=NM_032507,NM_001184743;GI=PGBD1,PGBD1;FC=Missense_I678V,Missense_I678V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,24:44:99:790,0,580:59:99:0.558 chr6 28270047 rs6456811 C G 2187.38 PASS BaseQRankSum=1.022;DP=183;Dels=0.00;FS=0.551;HRun=0;HaplotypeScore=3.6812;MQ=53;MQ0=0;MQRankSum=-0.963;QD=11.95;ReadPosRankSum=-2.934;SB=-1400.81;TI=NM_032507,NM_001184743;GI=PGBD1,PGBD1;FC=Missense_H806D,Missense_H806D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,97:183:99:2217,0,1919:53:99:0.530 chr6 29523676 rs8337 C G 1974.60 PASS BaseQRankSum=0.609;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=0.284;QD=12.82;ReadPosRankSum=1.491;SB=-847.04;TI=NM_006398;GI=UBD;FC=Missense_C160S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,76:154:99:2005,0,2147:56:99:0.494 chr6 29625001 rs3130250 A G 2740.39 PASS DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5423;MQ=50;MQ0=0;QD=26.35;SB=-1806.98;TI=NM_206810,NM_206814,NM_206812,NM_206809,NM_001008228,NM_206811,NM_001170418,NM_002433,NM_001008229;GI=MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG;FC=Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S,Synonymous_S5S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:104:99:2773,199,0:50:99:1.000 chr6 29634003 rs2857766 G C 1234.04 PASS BaseQRankSum=2.105;DP=109;Dels=0.00;FS=0.726;HRun=0;HaplotypeScore=2.8909;MQ=51;MQ0=0;MQRankSum=-1.775;QD=11.32;ReadPosRankSum=-1.332;SB=-819.63;TI=NM_206810,NM_206814,NM_206812,NM_206809,NM_001008228,NM_206811,NM_001170418,NM_002433,NM_001008229;GI=MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG;FC=Missense_V171L,Missense_V55L,Missense_V171L,Missense_V171L,Missense_V171L,Missense_V171L,Missense_V55L,Missense_V171L,Missense_V171L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,56:109:99:1264,0,1075:51:99:0.523 chr6 29634012 rs3130253 A G 2293.81 PASS BaseQRankSum=1.694;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6791;MQ=52;MQ0=0;MQRankSum=1.694;QD=25.21;ReadPosRankSum=-0.933;SB=-1493.60;TI=NM_206810,NM_206814,NM_206812,NM_206809,NM_001008228,NM_206811,NM_001170418,NM_002433,NM_001008229;GI=MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG,MOG;FC=Missense_I174V,Missense_I58V,Missense_I174V,Missense_I174V,Missense_I174V,Missense_I174V,Missense_I58V,Missense_I174V,Missense_I174V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,90:91:99:2327,163,0:52:99:0.989 chr6 29795636 rs1630223 G A 972.31 PASS BaseQRankSum=2.317;DP=75;Dels=0.00;FS=0.883;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=2.063;QD=12.96;ReadPosRankSum=0.949;SB=-580.55;TI=NM_002127;GI=HLA-G;FC=Synonymous_A5A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,36:75:99:1002,0,903:53:99:0.480 chr6 29795657 rs1630185 G A 944.62 PASS BaseQRankSum=1.983;DP=72;Dels=0.00;FS=0.927;HRun=0;HaplotypeScore=2.8661;MQ=54;MQ0=0;MQRankSum=-0.056;QD=13.12;ReadPosRankSum=1.769;SB=-553.31;TI=NM_002127;GI=HLA-G;FC=Synonymous_L12L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,35:72:99:975,0,893:54:99:0.486 chr6 29795993 rs1130355 G A 2200.86 PASS BaseQRankSum=-0.573;DP=164;Dels=0.00;FS=1.251;HRun=0;HaplotypeScore=15.5629;MQ=56;MQ0=0;MQRankSum=0.885;QD=13.42;ReadPosRankSum=0.556;SB=-989.55;TI=NM_002127;GI=HLA-G;FC=Synonymous_P81P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,82:164:99:2231,0,2001:56:99:0.503 chr6 29796103 rs1626038 T C 1254.36 PASS BaseQRankSum=1.119;DP=83;Dels=0.00;FS=3.116;HRun=2;HaplotypeScore=5.5151;MQ=54;MQ0=0;MQRankSum=-0.727;QD=15.11;ReadPosRankSum=-1.568;SB=-748.98;TI=NM_002127;GI=HLA-G;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,51:83:99:1284,0,880:54:99:0.622 chr6 29796327 rs1130356 C T 1357.69 PASS BaseQRankSum=2.175;DP=98;Dels=0.00;FS=2.705;HRun=0;HaplotypeScore=10.0186;MQ=54;MQ0=0;MQRankSum=-0.053;QD=13.85;ReadPosRankSum=0.751;SB=-789.27;TI=NM_002127;GI=HLA-G;FC=Synonymous_H117H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,52:98:99:1388,0,1195:54:99:0.531 chr6 29797639 rs1049033 C T 1034.89 PASS BaseQRankSum=-0.949;DP=102;Dels=0.00;FS=6.351;HRun=0;HaplotypeScore=3.6806;MQ=55;MQ0=0;MQRankSum=-0.186;QD=10.15;ReadPosRankSum=0.017;SB=-551.16;TI=NM_002127;GI=HLA-G;FC=Synonymous_G314G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,44:102:99:1065,0,1294:55:99:0.431 chr6 29797696 rs1130363 A G 702.78 PASS BaseQRankSum=-0.628;DP=89;Dels=0.00;FS=3.000;HRun=1;HaplotypeScore=4.8772;MQ=54;MQ0=0;MQRankSum=1.526;QD=7.90;ReadPosRankSum=0.919;SB=-324.89;TI=NM_002127;GI=HLA-G;FC=Synonymous_R333R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,32:89:99:733,0,1362:54:99:0.360 chr6 29910358 rs1143146;rs77016084;rs79473346 C G 785.86 PASS BaseQRankSum=2.559;DP=88;Dels=0.00;FS=2.988;HRun=0;HaplotypeScore=1.7262;MQ=49;MQ0=0;MQRankSum=-1.066;QD=8.93;ReadPosRankSum=1.223;SB=-388.67;TI=NM_002116;GI=HLA-A;FC=Missense_L10V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,31:88:99:816,0,1452:49:99:0.352 chr6 29910378 rs41546314;rs74524559;rs78573734 C T 788.78 PASS BaseQRankSum=0.964;DP=89;Dels=0.00;FS=0.845;HRun=0;HaplotypeScore=2.6823;MQ=47;MQ0=0;MQRankSum=-1.542;QD=8.86;ReadPosRankSum=0.055;SB=-421.49;TI=NM_002116;GI=HLA-A;FC=Synonymous_A16A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,33:89:99:819,0,1420:47:99:0.371 chr6 29910527 rs17879990 C T 997.74 PASS BaseQRankSum=1.957;DP=84;Dels=0.00;FS=12.227;HRun=0;HaplotypeScore=4.6309;MQ=43;MQ0=0;MQRankSum=-4.447;QD=11.88;ReadPosRankSum=0.488;SB=-515.57;TI=NM_002116;GI=HLA-A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,40:84:99:1028,0,1317:43:99:0.476 chr6 29910538 rs1136657;rs74579140;rs75043149;rs80316590 C T 1092.05 PASS BaseQRankSum=1.269;DP=87;Dels=0.00;FS=8.068;HRun=0;HaplotypeScore=8.0802;MQ=42;MQ0=0;MQRankSum=-2.313;QD=12.55;ReadPosRankSum=0.250;SB=-548.82;TI=NM_002116;GI=HLA-A;FC=Synonymous_S26S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,43:87:99:1122,0,1245:42:99:0.494 chr6 29910558 rs2075684;rs75436713;rs76217816;rs80321556 T C 1475.30 PASS BaseQRankSum=1.056;DP=128;Dels=0.00;FS=14.845;HRun=1;HaplotypeScore=17.3577;MQ=44;MQ0=0;MQRankSum=0.411;QD=11.53;ReadPosRankSum=2.225;SB=-451.74;TI=NM_002116;GI=HLA-A;FC=Missense_F33S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,54:128:99:1505,0,1735:44:99:0.435 chr6 29910581 rs1059423 C A 1577.28 PASS BaseQRankSum=0.849;DP=151;Dels=0.00;FS=6.620;HRun=0;HaplotypeScore=7.0073;MQ=44;MQ0=0;MQRankSum=0.221;QD=10.45;ReadPosRankSum=0.141;SB=-800.64;TI=NM_002116;GI=HLA-A;FC=Missense_R41S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,63:151:99:1607,0,2199:44:99:0.420 chr6 29910583 rs1059426 C T 1607.37 PASS BaseQRankSum=1.569;DP=154;Dels=0.00;FS=6.460;HRun=0;HaplotypeScore=7.9014;MQ=44;MQ0=0;MQRankSum=-0.004;QD=10.44;ReadPosRankSum=0.239;SB=-788.91;TI=NM_002116;GI=HLA-A;FC=Synonymous_R41R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,63:154:99:1637,0,2372:44:99:0.409 chr6 29910586 rs12721672 G A 1713.95 PASS BaseQRankSum=0.787;DP=163;Dels=0.00;FS=4.018;HRun=0;HaplotypeScore=6.1027;MQ=44;MQ0=0;MQRankSum=-0.216;QD=10.52;ReadPosRankSum=-1.345;SB=-913.47;TI=NM_002116;GI=HLA-A;FC=Synonymous_G42G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,72:163:99:1744,0,2306:44:99:0.442 chr6 29910604 rs12721675;rs74506695 C A 5215.40 PASS BaseQRankSum=-0.678;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7404;MQ=45;MQ0=0;MQRankSum=0.105;QD=28.19;ReadPosRankSum=0.012;SB=-2472.19;TI=NM_002116;GI=HLA-A;FC=Synonymous_A48A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:6,179:185:99:5215,285,0:45:99:0.968 chr6 29910663 rs707910;rs74655243 G A 2266.07 PASS BaseQRankSum=1.545;DP=194;Dels=0.00;FS=3.480;HRun=1;HaplotypeScore=12.6761;MQ=46;MQ0=0;MQRankSum=1.230;QD=11.68;ReadPosRankSum=2.578;SB=-1027.26;TI=NM_002116;GI=HLA-A;FC=Missense_R68K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,95:194:99:2296,0,2509:46:99:0.490 chr6 29910700 rs1059452;rs78625613;rs79810254 G T 1650.09 PASS BaseQRankSum=-0.884;DP=158;Dels=0.00;FS=9.179;HRun=0;HaplotypeScore=12.1812;MQ=45;MQ0=0;MQRankSum=-0.475;QD=10.44;ReadPosRankSum=-3.394;SB=-833.19;TI=NM_002116;GI=HLA-A;FC=Synonymous_G80G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,71:158:99:1680,0,2271:45:99:0.449 chr6 29910716 rs1059455;rs74452350 C G 815.88 PASS BaseQRankSum=0.550;DP=113;Dels=0.00;FS=8.858;HRun=0;HaplotypeScore=6.5314;MQ=45;MQ0=0;MQRankSum=-0.587;QD=7.22;ReadPosRankSum=1.816;SB=-498.25;TI=NM_002116;GI=HLA-A;FC=Missense_Q86E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,38:113:99:846,0,2000:45:99:0.339 chr6 29910717 rs1064588;rs74446775 A G 800.36 PASS BaseQRankSum=0.267;DP=112;Dels=0.00;FS=13.171;HRun=2;HaplotypeScore=8.2576;MQ=44;MQ0=0;MQRankSum=-1.195;QD=7.15;ReadPosRankSum=1.754;SB=-470.78;TI=NM_002116;GI=HLA-A;FC=Missense_Q86R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,38:112:99:830,0,1946:44:99:0.339 chr6 29910730 rs1059460;rs76523677 T A 931.37 PASS BaseQRankSum=1.037;DP=110;Dels=0.00;FS=1.825;HRun=2;HaplotypeScore=10.1481;MQ=44;MQ0=0;MQRankSum=-1.824;QD=8.47;ReadPosRankSum=1.111;SB=-371.95;TI=NM_002116;GI=HLA-A;FC=Missense_N90K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,42:110:99:961,0,1767:44:99:0.382 chr6 29910731 rs79361534 G A 1624.13 PASS BaseQRankSum=0.551;DP=111;Dels=0.00;FS=1.872;HRun=0;HaplotypeScore=9.1548;MQ=44;MQ0=0;MQRankSum=2.432;QD=14.63;ReadPosRankSum=-0.686;SB=-511.39;TI=NM_002116;GI=HLA-A;FC=Missense_V91M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,67:111:99:1654,0,1036:44:99:0.609 chr6 29910742 rs1059463;rs72657642;rs78073371;rs78306866 G C 3103.65 PASS DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7818;MQ=43;MQ0=0;QD=29.56;SB=-980.18;TI=NM_002116;GI=HLA-A;FC=Missense_Q94H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:3137,261,0:43:99:1.000 chr6 29910752 rs1136683;rs74979578;rs75646802 G C 948.72 PASS BaseQRankSum=-0.381;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8955;MQ=40;MQ0=0;MQRankSum=0.105;QD=13.00;ReadPosRankSum=-1.386;SB=-326.88;TI=NM_002116;GI=HLA-A;FC=Missense_D98H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,38:73:99:979,0,901:40:99:0.521 chr6 29910759 rs1071742 T C 793.90 PASS BaseQRankSum=0.165;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2295;MQ=40;MQ0=0;MQRankSum=-0.506;QD=11.18;ReadPosRankSum=1.082;SB=-193.68;TI=NM_002116;GI=HLA-A;FC=Missense_V100A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,33:71:99:824,0,966:40:99:0.471 chr6 29910761 rs1136688 G A 918.41 PASS BaseQRankSum=-0.747;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4413;MQ=40;MQ0=0;MQRankSum=0.069;QD=12.25;ReadPosRankSum=0.789;SB=-259.13;TI=NM_002116;GI=HLA-A;FC=Missense_D101N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,37:75:99:948,0,930:40:99:0.493 chr6 29910801 rs1136692;rs80246530 C A 867.62 PASS BaseQRankSum=0.707;DP=58;Dels=0.00;FS=1.260;HRun=0;HaplotypeScore=3.6282;MQ=41;MQ0=0;MQRankSum=0.094;QD=14.96;ReadPosRankSum=-1.994;SB=-272.28;TI=NM_002116;GI=HLA-A;FC=Missense_A114D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,33:58:99:898,0,562:41:99:0.569 chr6 29911893 rs9260172 C T 432.76 PASS BaseQRankSum=1.316;DP=76;Dels=0.00;FS=0.980;HRun=0;HaplotypeScore=3.8313;MQ=49;MQ0=0;MQRankSum=-1.150;QD=5.69;ReadPosRankSum=-1.338;SB=-323.97;TI=NM_002116;GI=HLA-A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,25:76:99:463,0,1180:49:99:0.329 chr6 29912028 rs60304108;rs66729206 AG A 267.70 SB BaseQRankSum=2.802;DP=58;FS=12.436;HRun=2;HaplotypeScore=94.6607;MQ=22;MQ0=26;MQRankSum=1.444;QD=4.62;ReadPosRankSum=1.330;SB=-0.00;TI=NM_002116;GI=HLA-A;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,28:25:99:307,0,603:22:99:0.483 chr6 29912030 rs59581768 G C 222.18 SB BaseQRankSum=1.174;DP=58;Dels=0.00;FS=12.436;HRun=0;HaplotypeScore=1.9849;MQ=22;MQ0=26;MQRankSum=2.179;QD=3.83;ReadPosRankSum=1.509;SB=-0.01;TI=NM_002116;GI=HLA-A;FC=Missense_D251H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,28:58:99:252,0,413:22:99:0.491 chr6 29912042 rs60318678;rs74996856;rs80073174 G A 17.46 SB BaseQRankSum=-1.303;DP=53;Dels=0.00;FS=2.625;HRun=0;HaplotypeScore=0.0000;MQ=20;MQ0=22;MQRankSum=1.971;QD=0.33;ReadPosRankSum=1.971;SB=-0.01;TI=NM_002116;GI=HLA-A;FC=Missense_V255M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,13:53:47.37:47,0,568:20:17:0.245 chr6 29912108 rs2231095;rs75766454 G C 228.14 PASS BaseQRankSum=-1.476;DP=36;Dels=0.00;FS=18.257;HRun=0;HaplotypeScore=1.7262;MQ=28;MQ0=5;MQRankSum=-1.226;QD=6.34;ReadPosRankSum=0.395;SB=-37.92;TI=NM_002116;GI=HLA-A;FC=Missense_E277Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,18:36:99:258,0,401:28:99:0.514 chr6 29912147 rs1059686;rs78896137 C T 341.16 PASS BaseQRankSum=0.544;DP=30;Dels=0.00;FS=13.262;HRun=1;HaplotypeScore=4.8874;MQ=33;MQ0=0;MQRankSum=-0.460;QD=11.37;ReadPosRankSum=1.967;SB=-49.95;TI=NM_002116;GI=HLA-A;FC=Synonymous_L290L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,17:30:99:371,0,301:33:99:0.567 chr6 29912280 rs1136903;rs77430870 T C 453.71 PASS BaseQRankSum=-0.405;DP=22;Dels=0.00;FS=1.999;HRun=1;HaplotypeScore=0.9989;MQ=47;MQ0=0;MQRankSum=-2.617;QD=20.62;ReadPosRankSum=-0.405;SB=-156.89;TI=NM_002116;GI=HLA-A;FC=Missense_L300P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,16:22:99:484,0,114:47:99:0.727 chr6 29912333 rs3179982;rs79377647 C T 606.18 PASS BaseQRankSum=-0.300;DP=28;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8212;MQ=45;MQ0=0;MQRankSum=-2.039;QD=21.65;ReadPosRankSum=0.420;SB=-234.06;TI=NM_002116;GI=HLA-A;FC=Missense_L318F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,23:28:97.52:636,0,98:45:98:0.821 chr6 29912368 rs1141891;rs77107686 C T 476.76 PASS BaseQRankSum=1.658;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=46;MQ0=0;MQRankSum=-1.658;QD=22.70;ReadPosRankSum=-0.452;SB=-168.83;TI=NM_002116;GI=HLA-A;FC=Synonymous_A329A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,18:21:34.20:507,0,34:46:34:0.857 chr6 29912398 . A G 391.83 PASS BaseQRankSum=2.182;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2717;MQ=44;MQ0=0;MQRankSum=0.262;QD=19.59;ReadPosRankSum=0.000;SB=-96.18;TI=NM_002116;GI=HLA-A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,15:20:70.04:422,0,70:44:70:0.750 chr6 29912830 rs2571381;rs74908252;rs80249310 T C 2722.55 PASS DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9973;MQ=49;MQ0=3;QD=28.66;SB=-1276.75;TI=NM_002116;GI=HLA-A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:2756,211,0:49:99:1.000 chr6 29912852 rs1137296;rs75562132 T C 1351.26 PASS BaseQRankSum=0.169;DP=110;Dels=0.00;FS=0.788;HRun=0;HaplotypeScore=2.6548;MQ=49;MQ0=6;MQRankSum=-4.680;QD=12.28;ReadPosRankSum=1.934;SB=-695.19;TI=NM_002116;GI=HLA-A;FC=Synonymous_S343S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,63:110:99:1381,0,1244:49:99:0.578 chr6 29912856 rs2231119;rs76774052 A T 1356.44 PASS BaseQRankSum=0.602;DP=112;Dels=0.00;FS=1.688;HRun=0;HaplotypeScore=2.6548;MQ=49;MQ0=6;MQRankSum=-4.074;QD=12.11;ReadPosRankSum=2.300;SB=-693.76;TI=NM_002116;GI=HLA-A;FC=Missense_T345S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,63:112:99:1386,0,1329:49:99:0.563 chr6 29913042 rs14288;rs2231121;rs76103396 C T 2571.48 PASS DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=32.14;SB=-1184.98;TI=NM_002116;GI=HLA-A;FC=Synonymous_S359S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2604,199,0:51:99:1.000 chr6 29913067 rs3823342;rs78585098;rs79221405 T C 797.09 PASS BaseQRankSum=0.582;DP=77;Dels=0.00;FS=0.895;HRun=1;HaplotypeScore=6.3629;MQ=51;MQ0=0;MQRankSum=-0.705;QD=10.35;ReadPosRankSum=-0.787;SB=-439.77;TI=NM_002116;GI=HLA-A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,33:77:99:827,0,1240:51:99:0.429 chr6 30457732 rs1059510 T C 2551.67 PASS DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.5466;MQ=57;MQ0=0;QD=34.02;SB=-419.21;TI=NM_005516;GI=HLA-E;FC=Synonymous_N98N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:75:99:2585,199,0:57:99:1.000 chr6 30458064 rs1264457 G A 2211.07 PASS BaseQRankSum=0.351;DP=153;Dels=0.00;FS=5.458;HRun=0;HaplotypeScore=11.4572;MQ=56;MQ0=0;MQRankSum=1.968;QD=14.45;ReadPosRankSum=0.979;SB=-687.10;TI=NM_005516;GI=HLA-E;FC=Missense_G128R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,81:153:99:2241,0,1875:56:99:0.533 chr6 30458933 rs11548296 G C 1442.37 PASS BaseQRankSum=0.674;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4156;MQ=51;MQ0=0;MQRankSum=3.229;QD=12.65;ReadPosRankSum=2.227;SB=-889.63;TI=NM_005516;GI=HLA-E;FC=Synonymous_V210V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,62:114:99:1472,0,1103:51:99:0.544 chr6 31083797 rs66485631 ACTT A 826.95 SB;LowDP DP=15;FS=0.000;HRun=0;HaplotypeScore=92.9340;MQ=53;MQ0=0;QD=55.13;SB=-0.00;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,13:15:45.15:869,45,0:53:45:0.867 chr6 31083813 rs3130981 T C 605.69 SB;LowDP DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=51;MQ0=0;QD=35.63;SB=-0.01;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Missense_N527D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,17:17:51.16:639,51,0:51:51:1.000 chr6 31084075 rs3130982 G C 5699.09 PASS DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4702;MQ=53;MQ0=0;QD=28.93;SB=-3206.04;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Synonymous_S439S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,197:197:99:5699,418,0:53:99:1.000 chr6 31084163 rs3132554 A G 6434.76 PASS DP=219;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.4418;MQ=53;MQ0=0;QD=29.38;SB=-3769.76;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Missense_L410S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,218:219:99:6435,473,0:53:99:1.000 chr6 31084288 rs1042126 T C 3202.79 PASS BaseQRankSum=-0.715;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=59;MQ0=0;MQRankSum=0.979;QD=34.81;ReadPosRankSum=1.356;SB=-1396.87;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Synonymous_A368A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,91:92:99:3236,209,0:59:99:0.989 chr6 31084435 rs1062470 G A 7451.14 PASS BaseQRankSum=0.109;DP=271;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0047;MQ=52;MQ0=0;MQRankSum=0.364;QD=27.49;ReadPosRankSum=1.259;SB=-4976.98;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Synonymous_Y319Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,270:271:99:7451,501,0:52:99:0.996 chr6 31084684 rs3094215 G A 4982.63 PASS DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7249;MQ=57;MQ0=0;QD=31.74;SB=-2071.48;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Synonymous_S236S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,156:157:99:4983,367,0:57:99:1.000 chr6 31084787 rs707913 A G 4034.26 PASS BaseQRankSum=0.549;DP=336;Dels=0.00;FS=2.379;HRun=0;HaplotypeScore=14.8160;MQ=55;MQ0=0;MQRankSum=2.072;QD=12.01;ReadPosRankSum=-0.710;SB=-2479.87;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Missense_F202S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:168,168:336:99:4034,0,3987:55:99:0.500 chr6 31084792 rs3130983 C T 9309.76 PASS DP=337;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.0280;MQ=55;MQ0=0;QD=27.63;SB=-5588.74;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Synonymous_Q200Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,336:337:99:9310,674,0:55:99:1.000 chr6 31084964 rs3130984 T C 4468.50 PASS DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7979;MQ=59;MQ0=0;QD=33.35;SB=-1187.91;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Missense_N143S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:134:99:4468,334,0:59:99:1.000 chr6 31085200 rs3132553 A G 1300.41 PASS DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3030;MQ=55;MQ0=0;QD=28.90;SB=-595.43;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Synonymous_G64G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:45:99:1333,99,0:55:99:1.000 chr6 31085269 rs3132552 A G 940.11 PASS DP=34;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.65;SB=-397.47;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Synonymous_P41P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:72.23:973,72,0:53:72:1.000 chr6 31088202 rs2302399 A G 2234.84 PASS DP=84;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5215;MQ=52;MQ0=0;QD=26.61;SB=-1603.98;TI=NM_014068,NM_001264;GI=PSORS1C1,CDSN;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2268,163,0:52:99:1.000 chr6 31110391 rs1576 G C 1344.11 PASS BaseQRankSum=1.319;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=56;MQ0=0;MQRankSum=2.748;QD=12.56;ReadPosRankSum=2.311;SB=-837.23;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Missense_S829C,Missense_S865C,Missense_S776C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,56:107:99:1374,0,1269:56:99:0.523 chr6 31110786 rs12364 T A 703.63 PASS BaseQRankSum=1.322;DP=74;Dels=0.00;FS=2.081;HRun=1;HaplotypeScore=5.6647;MQ=54;MQ0=0;MQRankSum=0.893;QD=9.51;ReadPosRankSum=0.396;SB=-449.32;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Synonymous_A779A,Synonymous_A815A,Synonymous_A726A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,33:74:99:734,0,975:54:99:0.458 chr6 31111180 rs130073 T C 1647.14 PASS DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=31.08;SB=-474.98;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Synonymous_L690L,Synonymous_L726L,Synonymous_L637L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1680,123,0:55:99:1.000 chr6 31112737 rs130079 C A 2089.72 PASS BaseQRankSum=1.638;DP=143;Dels=0.00;FS=2.173;HRun=0;HaplotypeScore=7.5415;MQ=56;MQ0=0;MQRankSum=-1.192;QD=14.61;ReadPosRankSum=0.301;SB=-1300.95;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Missense_G628C,Missense_G664C,Missense_G575C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,83:143:99:2120,0,1608:56:99:0.580 chr6 31113030 rs3132539 A G 3369.53 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5431;MQ=54;MQ0=0;QD=29.82;SB=-1967.55;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Synonymous_L561L,Synonymous_L597L,Synonymous_L508L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3370,253,0:54:99:1.000 chr6 31113052 rs3094225 G A 3031.35 PASS DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=55;MQ0=0;QD=31.58;SB=-1567.42;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Synonymous_D553D,Synonymous_D589D,Synonymous_D500D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:96:99:3064,232,0:55:99:1.000 chr6 31113083 rs1265076;rs75364078 G A 819.92 PASS BaseQRankSum=0.834;DP=65;Dels=0.00;FS=3.442;HRun=0;HaplotypeScore=4.4156;MQ=57;MQ0=0;MQRankSum=2.187;QD=12.61;ReadPosRankSum=0.650;SB=-405.73;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,31:65:99:850,0,973:57:99:0.477 chr6 31113275 rs886401 A G 2353.20 PASS DP=80;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.5489;MQ=56;MQ0=0;QD=29.42;SB=-1425.76;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2386,175,0:56:99:1.000 chr6 31113276 rs76129635 G A 2231.68 PASS DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=56;MQ0=0;QD=27.90;SB=-1456.78;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2265,169,0:56:99:1.000 chr6 31116210 rs130071 G A 2285.87 PASS BaseQRankSum=1.949;DP=217;Dels=0.00;FS=1.082;HRun=1;HaplotypeScore=18.8138;MQ=55;MQ0=0;MQRankSum=0.882;QD=10.53;ReadPosRankSum=-1.997;SB=-1574.40;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Synonymous_L482L,Synonymous_L518L,Synonymous_L429L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,104:217:99:2316,0,2513:55:99:0.479 chr6 31116220 rs130070 G A 2314.95 PASS BaseQRankSum=-2.074;DP=200;Dels=0.00;FS=1.791;HRun=0;HaplotypeScore=15.3929;MQ=54;MQ0=0;MQRankSum=2.574;QD=11.57;ReadPosRankSum=0.327;SB=-1480.43;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Synonymous_A478A,Synonymous_A514A,Synonymous_A425A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,104:200:99:2345,0,2240:54:99:0.523 chr6 31116246 rs130068 G A 2202.11 PASS BaseQRankSum=1.854;DP=200;Dels=0.00;FS=1.116;HRun=1;HaplotypeScore=11.4860;MQ=54;MQ0=0;MQRankSum=2.760;QD=11.01;ReadPosRankSum=3.272;SB=-1261.05;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Missense_R470W,Missense_R506W,Missense_R417W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,93:200:99:2232,0,2478:54:99:0.465 chr6 31118565 rs130078 C G 5000.54 PASS BaseQRankSum=-0.140;DP=187;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.2631;MQ=53;MQ0=0;MQRankSum=-1.526;QD=26.74;ReadPosRankSum=0.328;SB=-3204.10;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Synonymous_V310V,Synonymous_V346V,Synonymous_V257V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,184:187:99:5001,324,0:53:99:0.995 chr6 31122315 rs130066 G C 2585.19 PASS BaseQRankSum=2.706;DP=233;Dels=0.00;FS=6.443;HRun=1;HaplotypeScore=13.8513;MQ=54;MQ0=0;MQRankSum=0.676;QD=11.10;ReadPosRankSum=0.332;SB=-1772.44;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Missense_S217R,Missense_S253R,Missense_S164R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,111:233:99:2615,0,2958:54:99:0.476 chr6 31122330 rs130077 G A 2758.82 PASS BaseQRankSum=0.600;DP=219;Dels=0.00;FS=1.673;HRun=2;HaplotypeScore=20.7856;MQ=54;MQ0=0;MQRankSum=0.038;QD=12.60;ReadPosRankSum=-0.083;SB=-1587.65;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Synonymous_N212N,Synonymous_N248N,Synonymous_N159N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,111:219:99:2789,0,2666:54:99:0.512 chr6 31122482 rs130076 G A 2056.84 PASS BaseQRankSum=-0.486;DP=163;Dels=0.00;FS=3.773;HRun=0;HaplotypeScore=14.1220;MQ=56;MQ0=0;MQRankSum=2.203;QD=12.62;ReadPosRankSum=1.317;SB=-1073.23;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Missense_R162W,Missense_R198W,Missense_R109W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,79:163:99:2087,0,2138:56:99:0.485 chr6 31122500 rs130065 G A 2096.03 PASS BaseQRankSum=-0.465;DP=152;Dels=0.00;FS=5.124;HRun=0;HaplotypeScore=7.2815;MQ=55;MQ0=0;MQRankSum=3.887;QD=13.79;ReadPosRankSum=-0.867;SB=-1048.53;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Missense_R156W,Missense_R192W,Missense_R103W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,79:152:99:2126,0,1909:55:99:0.520 chr6 31124849 rs3130453 C T 1129.31 PASS BaseQRankSum=2.092;DP=96;Dels=0.00;FS=4.028;HRun=1;HaplotypeScore=11.7880;MQ=55;MQ0=0;MQRankSum=1.854;QD=11.76;ReadPosRankSum=-0.472;SB=-409.57;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Nonsense_W78X,Nonsense_W78X,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,40:96:99:1159,0,1627:55:99:0.417 chr6 31125158 rs743401 C T 1008.55 PASS BaseQRankSum=1.253;DP=102;Dels=0.00;FS=2.635;HRun=1;HaplotypeScore=2.7880;MQ=52;MQ0=0;MQRankSum=-0.883;QD=9.89;ReadPosRankSum=-0.869;SB=-548.53;TI=NM_001105563,NM_001105564,NM_019052;GI=CCHCR1,CCHCR1,CCHCR1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,43:102:99:1039,0,1566:52:99:0.426 chr6 31132414 rs1061118;rs17197178 G A 725.39 PASS DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=28;MQ0=22;QD=16.12;SB=-88.77;TI=NM_001173531,NM_203289,NM_002701;GI=POU5F1,POU5F1,POU5F1;FC=Synonymous_S179S,Synonymous_S179S,Synonymous_S349S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:13,32:45:63.17:758,63,0:28:63:0.711 chr6 31132649 rs2394882 A C 1426.50 PASS DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=57;MQ0=0;QD=35.66;SB=-115.22;TI=NM_001173531,NM_203289,NM_002701;GI=POU5F1,POU5F1,POU5F1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,39:40:99:1460,111,0:57:99:1.000 chr6 31138107 rs1062630 G A 374.68 PASS BaseQRankSum=1.880;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8938;MQ=54;MQ0=0;MQRankSum=-0.302;QD=13.38;ReadPosRankSum=0.720;SB=-211.17;TI=NM_002701;GI=POU5F1;FC=Synonymous_G97G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,16:28:99:405,0,362:54:99:0.571 chr6 31138377 rs2077010 C T 855.28 PASS BaseQRankSum=-0.800;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.382;QD=11.11;ReadPosRankSum=-0.545;SB=-409.55;TI=NM_002701;GI=POU5F1;FC=Synonymous_S7S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,37:77:99:885,0,922:56:99:0.481 chr6 31237124 rs1130838;rs75268046 T C 932.27 PASS BaseQRankSum=1.158;DP=67;Dels=0.00;FS=6.817;HRun=0;HaplotypeScore=8.1042;MQ=51;MQ0=0;MQRankSum=-2.259;QD=13.91;ReadPosRankSum=2.069;SB=-510.38;TI=NM_002117;GI=HLA-C;FC=Missense_T363A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,38:67:99:962,0,826:51:99:0.567 chr6 31237162 rs35708511;rs76207830 C G 1168.63 PASS BaseQRankSum=2.024;DP=77;Dels=0.00;FS=6.677;HRun=1;HaplotypeScore=11.8201;MQ=51;MQ0=0;MQRankSum=-0.731;QD=15.18;ReadPosRankSum=1.162;SB=-550.70;TI=NM_002117;GI=HLA-C;FC=Unknown_350;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,48:77:99:1199,0,689:51:99:0.623 chr6 31237786 rs41556617 A T 365.04 LowVariantFreq BaseQRankSum=-1.730;DP=111;Dels=0.00;FS=5.077;HRun=0;HaplotypeScore=8.2958;MQ=50;MQ0=0;MQRankSum=-5.996;QD=3.29;ReadPosRankSum=-5.720;SB=-92.41;TI=NM_002117;GI=HLA-C;FC=Synonymous_L324L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,20:111:99:395,0,2249:50:99:0.180 chr6 31237802 rs1050147;rs17413387 A G 389.27 LowVariantFreq BaseQRankSum=-0.904;DP=113;Dels=0.00;FS=0.926;HRun=0;HaplotypeScore=6.2038;MQ=50;MQ0=0;MQRankSum=-6.182;QD=3.44;ReadPosRankSum=-3.288;SB=-150.75;TI=NM_002117;GI=HLA-C;FC=Missense_V319A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,21:113:99:419,0,2343:50:99:0.186 chr6 31237833 rs1050180;rs76089826 T C 415.37 PASS BaseQRankSum=1.044;DP=94;Dels=0.00;FS=0.952;HRun=0;HaplotypeScore=5.4689;MQ=50;MQ0=0;MQRankSum=-5.955;QD=4.42;ReadPosRankSum=-0.890;SB=-205.91;TI=NM_002117;GI=HLA-C;FC=Missense_M309V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,21:94:99:445,0,1944:50:99:0.223 chr6 31239802 rs1050451;rs75527385 C G 1457.77 PASS BaseQRankSum=2.905;DP=110;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.4579;MQ=50;MQ0=2;MQRankSum=-2.880;QD=13.25;ReadPosRankSum=0.757;SB=-776.03;TI=NM_002117;GI=HLA-C;FC=Missense_G16A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,59:110:99:1488,0,1274:50:99:0.536 chr6 31239821 rs2308527;rs74572194 G T 1272.76 PASS BaseQRankSum=-0.148;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5395;MQ=50;MQ0=0;MQRankSum=-2.191;QD=12.73;ReadPosRankSum=-0.459;SB=-582.15;TI=NM_002117;GI=HLA-C;FC=Missense_L10I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,52:100:99:1303,0,1157:50:99:0.520 chr6 31239827 rs2308525;rs79267658 C T 1062.34 PASS BaseQRankSum=0.928;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6622;MQ=50;MQ0=0;MQRankSum=-2.810;QD=12.35;ReadPosRankSum=-0.734;SB=-509.70;TI=NM_002117;GI=HLA-C;FC=Missense_A8T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,41:86:99:1092,0,1047:50:99:0.482 chr6 31239855 rs7767581;rs79318845;rs80232934 C G 1116.40 PASS BaseQRankSum=0.673;DP=79;Dels=0.00;FS=3.544;HRun=0;HaplotypeScore=6.4579;MQ=50;MQ0=0;MQRankSum=-2.147;QD=14.13;ReadPosRankSum=-0.673;SB=-273.96;TI=NM_002117;GI=HLA-C;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,42:79:99:1146,0,930:50:99:0.532 chr6 31322303 rs2308655 C G 496.83 PASS BaseQRankSum=0.637;DP=50;Dels=0.00;FS=6.285;HRun=1;HaplotypeScore=4.5383;MQ=51;MQ0=0;MQRankSum=0.051;QD=9.94;ReadPosRankSum=0.536;SB=-117.39;TI=NM_005514;GI=HLA-B;FC=Unknown_349;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,18:50:99:527,0,833:51:99:0.360 chr6 31322402 rs2442718 C T 801.50 PASS BaseQRankSum=0.423;DP=70;Dels=0.00;FS=0.930;HRun=0;HaplotypeScore=9.4535;MQ=53;MQ0=0;MQRankSum=-0.916;QD=11.45;ReadPosRankSum=-0.987;SB=-515.70;TI=NM_005514;GI=HLA-B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,35:70:99:831,0,960:53:99:0.500 chr6 31322888 rs1140546 A G 3005.08 PASS DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1193;MQ=48;MQ0=1;QD=29.75;SB=-1212.03;TI=NM_005514;GI=HLA-B;FC=Synonymous_S336S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:3038,238,0:48:99:1.000 chr6 31322911 rs1051488 C T 1171.44 PASS BaseQRankSum=1.526;DP=105;Dels=0.00;FS=0.772;HRun=0;HaplotypeScore=18.8156;MQ=47;MQ0=1;MQRankSum=-1.406;QD=11.16;ReadPosRankSum=0.542;SB=-603.58;TI=NM_005514;GI=HLA-B;FC=Missense_A329T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,45:105:99:1201,0,1431:47:99:0.433 chr6 31322980 rs1131500;rs78997485 C T 931.64 PASS BaseQRankSum=0.246;DP=94;Dels=0.00;FS=0.795;HRun=0;HaplotypeScore=7.1405;MQ=47;MQ0=0;MQRankSum=-3.960;QD=9.91;ReadPosRankSum=0.982;SB=-546.01;TI=NM_005514;GI=HLA-B;FC=Missense_V306I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,39:94:99:962,0,1363:47:99:0.415 chr6 31322996 rs2074496;rs78935041 C T 821.31 PASS BaseQRankSum=1.671;DP=83;Dels=0.00;FS=3.044;HRun=0;HaplotypeScore=7.1109;MQ=49;MQ0=0;MQRankSum=-4.274;QD=9.90;ReadPosRankSum=1.097;SB=-419.98;TI=NM_005514;GI=HLA-B;FC=Synonymous_P300P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,34:83:99:851,0,1233:49:99:0.410 chr6 31323233 rs709052;rs79799369 A G 2145.27 PASS DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=55;MQ0=3;QD=27.86;SB=-1358.37;TI=NM_005514;GI=HLA-B;FC=Synonymous_T252T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2178,163,0:55:99:1.000 chr6 31323296 rs1050747;rs61746961 A G 3422.61 PASS DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8897;MQ=51;MQ0=3;QD=25.93;SB=-2010.21;TI=NM_005514;GI=HLA-B;FC=Synonymous_G231G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:132:99:3423,247,0:51:99:1.000 chr6 31323321 rs1050723 G A 1704.55 PASS BaseQRankSum=1.561;DP=133;Dels=0.00;FS=1.433;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=3;MQRankSum=3.097;QD=12.82;ReadPosRankSum=2.539;SB=-1112.63;TI=NM_005514;GI=HLA-B;FC=Missense_A223V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,76:133:99:1735,0,1168:50:99:0.571 chr6 31323353 rs2257269;rs76407054 G A 2607.78 PASS BaseQRankSum=0.984;DP=108;Dels=0.00;FS=4.172;HRun=0;HaplotypeScore=0.9894;MQ=50;MQ0=2;MQRankSum=3.383;QD=24.15;ReadPosRankSum=3.308;SB=-1384.33;TI=NM_005514;GI=HLA-B;FC=Synonymous_H212H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:7,101:108:86.22:2641,86,0:50:86:0.935 chr6 31324887 rs1131165 G C 13.74 LowVariantFreq;SB;LowDP BaseQRankSum=1.211;DP=16;Dels=0.00;FS=8.751;HRun=0;HaplotypeScore=0.0000;MQ=27;MQ0=0;MQRankSum=0.135;QD=0.86;ReadPosRankSum=2.422;SB=-0.01;TI=NM_005514;GI=HLA-B;FC=Missense_L17V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,3:16:43.55:44,0,308:27:14:0.188 chr6 31324888 rs1131163 G T 13.75 LowVariantFreq;SB;LowDP BaseQRankSum=1.211;DP=16;Dels=0.00;FS=8.751;HRun=0;HaplotypeScore=0.0000;MQ=27;MQ0=0;MQRankSum=0.538;QD=0.86;ReadPosRankSum=2.556;SB=-0.01;TI=NM_005514;GI=HLA-B;FC=Synonymous_A16A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,3:16:43.55:44,0,305:27:14:0.188 chr6 31324892 rs1131159 G C 10.91 LowVariantFreq;SB;LowDP BaseQRankSum=1.883;DP=16;Dels=0.00;FS=7.404;HRun=2;HaplotypeScore=0.0000;MQ=27;MQ0=0;MQRankSum=0.135;QD=0.68;ReadPosRankSum=2.556;SB=-0.01;TI=NM_005514;GI=HLA-B;FC=Missense_A15G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,3:16:40.54:41,0,343:27:11:0.188 chr6 31324895 rs1131156 G C 10.91 LowVariantFreq;SB;LowDP BaseQRankSum=2.153;DP=16;Dels=0.00;FS=7.404;HRun=2;HaplotypeScore=0.0000;MQ=27;MQ0=0;MQRankSum=-0.404;QD=0.68;ReadPosRankSum=2.556;SB=-0.01;TI=NM_005514;GI=HLA-B;FC=Missense_S14W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,3:16:40.54:41,0,340:27:11:0.188 chr6 31324911 rs1050462 C G 25.57 SB;LowDP BaseQRankSum=0.566;DP=11;Dels=0.00;FS=3.680;HRun=2;HaplotypeScore=0.0000;MQ=27;MQ0=0;MQRankSum=-0.382;QD=2.32;ReadPosRankSum=2.262;SB=-3.70;TI=NM_005514;GI=HLA-B;FC=Missense_V9L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,3:11:55.55:56,0,209:27:26:0.273 chr6 31324921 rs1050459 C T 116.23 LowDP BaseQRankSum=-1.001;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=27;MQ0=0;MQRankSum=0.248;QD=12.91;ReadPosRankSum=-1.422;SB=-69.18;TI=NM_005514;GI=HLA-B;FC=Synonymous_A5A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,6:9:61.56:146,0,62:27:62:0.667 chr6 31324925 rs1050458 A G 154.02 LowGQ;LowDP DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=23;MQ0=0;QD=22.00;SB=-64.55;TI=NM_005514;GI=HLA-B;FC=Missense_M4T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,7:7:20.95:187,21,0:23:21:1.000 chr6 31324931 rs79940021 A C 154.02 LowGQ;LowDP DP=7;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=23;MQ0=0;QD=22.00;SB=-64.55;TI=NM_005514;GI=HLA-B;FC=Missense_L2R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,7:7:20.95:187,21,0:23:21:1.000 chr6 31371430 rs2844519 T C 1213.75 PASS DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=54;MQ0=0;QD=30.34;SB=-521.07;TI=NM_000247,NM_001177519;GI=MICA,MICA;FC=Synonymous_F7F,Synonymous_F7F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:40:93.30:1247,93,0:54:93:1.000 chr6 31378956 rs1051790 C G 1610.78 PASS BaseQRankSum=-0.401;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6522;MQ=56;MQ0=0;MQRankSum=-0.340;QD=13.89;ReadPosRankSum=-0.490;SB=-938.84;TI=NM_000247,NM_001177519;GI=MICA,MICA;FC=Missense_L145V,Missense_L145V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,62:116:99:1641,0,1439:56:99:0.534 chr6 31379115 rs1131896 G A 1737.97 PASS BaseQRankSum=1.123;DP=118;Dels=0.00;FS=3.429;HRun=0;HaplotypeScore=5.3863;MQ=52;MQ0=0;MQRankSum=-2.072;QD=14.73;ReadPosRankSum=-1.255;SB=-1205.01;TI=NM_000247,NM_001177519;GI=MICA,MICA;FC=Missense_G198S,Missense_G198S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,72:118:99:1768,0,1179:52:99:0.610 chr6 31379134 rs1131897 C G 1262.07 PASS BaseQRankSum=-0.276;DP=84;Dels=0.00;FS=0.827;HRun=0;HaplotypeScore=4.7643;MQ=53;MQ0=0;MQRankSum=-1.993;QD=15.02;ReadPosRankSum=-1.098;SB=-802.51;TI=NM_000247,NM_001177519;GI=MICA,MICA;FC=Missense_T204R,Missense_T204R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,48:84:99:1292,0,926:53:99:0.571 chr6 31379141 rs2256026 C G 1075.97 PASS BaseQRankSum=0.720;DP=75;Dels=0.00;FS=0.896;HRun=1;HaplotypeScore=3.7749;MQ=53;MQ0=0;MQRankSum=-2.172;QD=14.35;ReadPosRankSum=-1.681;SB=-693.80;TI=NM_000247,NM_001177519;GI=MICA,MICA;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,42:75:99:1106,0,863:53:99:0.560 chr6 31379817 rs1140700;rs61736348;rs77704394 T C 700.74 PASS BaseQRankSum=1.183;DP=60;Dels=0.00;FS=0.997;HRun=0;HaplotypeScore=2.6823;MQ=49;MQ0=0;MQRankSum=-2.308;QD=11.68;ReadPosRankSum=-0.814;SB=-346.25;TI=NM_000247,NM_001177519;GI=MICA,MICA;FC=Missense_I236T,Missense_I236T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,29:60:99:731,0,789:49:99:0.483 chr6 31379931 rs1063635;rs75835277 G A 210.54 PASS BaseQRankSum=0.810;DP=20;Dels=0.00;FS=2.199;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-1.119;QD=10.53;ReadPosRankSum=1.504;SB=-18.39;TI=NM_000247,NM_001177519;GI=MICA,MICA;FC=Missense_R274Q,Missense_R274Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,8:20:99:241,0,385:58:99:0.400 chr6 31380161 rs41293539 G GCT 3920.57 PASS BaseQRankSum=0.086;DP=153;FS=1.280;HRun=0;HaplotypeScore=127.2070;MQ=58;MQ0=0;MQRankSum=1.478;QD=25.62;ReadPosRankSum=-1.152;SB=-1846.37;TI=NM_000247,NM_001177519;GI=MICA,MICA;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,80:153:99:3921,0,3447:58:99:0.523 chr6 31382911 rs1882 A G 669.93 PASS BaseQRankSum=2.387;DP=51;Dels=0.00;FS=1.102;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=1.569;QD=13.14;ReadPosRankSum=-1.113;SB=-406.88;TI=NM_000247,NM_001177519;GI=MICA,MICA;FC=Missense_H384R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,29:51:99:700,0,538:50:99:0.569 chr6 31432125 rs2284178 C T 166.89 LowDP BaseQRankSum=0.241;DP=17;Dels=0.00;FS=2.081;HRun=0;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=-0.337;QD=9.82;ReadPosRankSum=-1.780;SB=-85.88;TI=NM_006674;GI=HCP5;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,8:17:99:197,0,236:59:99:0.471 chr6 31473546 rs3131639 A G 637.45 PASS BaseQRankSum=1.558;DP=48;Dels=0.00;FS=1.119;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.972;QD=13.28;ReadPosRankSum=-2.123;SB=-418.93;TI=NM_005931;GI=MICB;FC=Missense_N75D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,28:48:99:667,0,515:57:99:0.583 chr6 31477681 rs1065076 A G 830.70 PASS BaseQRankSum=-0.033;DP=74;Dels=0.00;FS=4.576;HRun=0;HaplotypeScore=3.6820;MQ=53;MQ0=0;MQRankSum=1.533;QD=11.23;ReadPosRankSum=0.076;SB=-530.75;TI=NM_005931;GI=MICB;FC=Missense_T383A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,33:74:99:861,0,1050:53:99:0.446 chr6 31506624 rs1129640 T C 1919.23 PASS BaseQRankSum=2.836;DP=158;Dels=0.00;FS=1.247;HRun=0;HaplotypeScore=3.7774;MQ=49;MQ0=0;MQRankSum=0.412;QD=12.15;ReadPosRankSum=-0.621;SB=-1236.59;TI=NM_004640,NM_080598;GI=BAT1,BAT1;FC=Synonymous_V116V,Synonymous_V116V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,80:158:99:1949,0,1714:49:99:0.506 chr6 31525912 rs3130062 C T 3834.34 PASS DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3149;MQ=56;MQ0=0;QD=29.72;SB=-2087.93;TI=NM_001144963,NM_001144962,NM_001144961,NM_005007;GI=NFKBIL1,NFKBIL1,NFKBIL1,NFKBIL1;FC=Missense_R186C,Missense_R201C,Missense_R209C,Missense_R224C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3834,283,0:56:99:1.000 chr6 31540784 rs1041981 C A 1497.07 PASS BaseQRankSum=0.731;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5468;MQ=52;MQ0=0;MQRankSum=-0.774;QD=11.79;ReadPosRankSum=-2.597;SB=-927.91;TI=NM_001159740,NM_000595;GI=LTA,LTA;FC=Missense_T60N,Missense_T60N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,63:127:99:1527,0,1598:52:99:0.496 chr6 31594628 rs3130071 T A 2733.65 PASS DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=28.48;SB=-1540.24;TI=NM_004638,NM_080686;GI=PRRC2A,PRRC2A;FC=Synonymous_G354G,Synonymous_G354G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:96:99:2767,205,0:53:99:1.000 chr6 31595882 rs1046080 C A 2419.37 PASS BaseQRankSum=-1.232;DP=229;Dels=0.00;FS=2.399;HRun=1;HaplotypeScore=32.5598;MQ=54;MQ0=0;MQRankSum=2.637;QD=10.56;ReadPosRankSum=-0.933;SB=-1130.86;TI=NM_004638,NM_080686;GI=PRRC2A,PRRC2A;FC=Missense_T544K,Missense_T544K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:128,101:229:99:2449,0,3133:54:99:0.441 chr6 31599162 . C A 2333.72 PASS BaseQRankSum=2.849;DP=198;Dels=0.00;FS=3.279;HRun=0;HaplotypeScore=15.4148;MQ=55;MQ0=0;MQRankSum=1.101;QD=11.79;ReadPosRankSum=-0.329;SB=-1410.69;TI=NM_004638,NM_080686;GI=PRRC2A,PRRC2A;FC=Synonymous_R904R,Synonymous_R904R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,101:198:99:2364,0,2355:55:99:0.513 chr6 31599594 rs10947220 A G 545.11 PASS BaseQRankSum=0.648;DP=46;Dels=0.00;FS=2.648;HRun=4;HaplotypeScore=11.5668;MQ=54;MQ0=0;MQRankSum=-0.353;QD=11.85;ReadPosRankSum=-0.148;SB=-352.25;TI=NM_004638,NM_080686;GI=PRRC2A,PRRC2A;FC=Synonymous_G1048G,Synonymous_G1048G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,24:46:99:575,0,574:54:99:0.533 chr6 31601344 rs2272593 T C 2517.67 PASS BaseQRankSum=-0.983;DP=219;Dels=0.00;FS=1.664;HRun=1;HaplotypeScore=7.2544;MQ=56;MQ0=0;MQRankSum=2.491;QD=11.50;ReadPosRankSum=-0.839;SB=-1539.84;TI=NM_004638,NM_080686;GI=PRRC2A,PRRC2A;FC=Missense_L1503P,Missense_L1503P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,106:219:99:2548,0,2826:56:99:0.486 chr6 31603045 rs35201773 A G 1697.12 PASS BaseQRankSum=2.215;DP=111;Dels=0.00;FS=0.775;HRun=1;HaplotypeScore=8.2204;MQ=55;MQ0=0;MQRankSum=-1.047;QD=15.29;ReadPosRankSum=-1.339;SB=-979.63;TI=NM_004638,NM_080686;GI=PRRC2A,PRRC2A;FC=Missense_D1766G,Missense_D1766G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,70:111:99:1727,0,913:55:99:0.636 chr6 31603189 rs11538264 G A 1671.41 PASS BaseQRankSum=1.282;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4532;MQ=56;MQ0=0;MQRankSum=-0.085;QD=11.14;ReadPosRankSum=2.463;SB=-811.20;TI=NM_004638,NM_080686;GI=PRRC2A,PRRC2A;FC=Missense_V1774M,Missense_V1774M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,66:150:99:1701,0,2343:56:99:0.440 chr6 31604044 rs3132453 T G 5916.01 PASS BaseQRankSum=1.679;DP=197;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.1471;MQ=56;MQ0=0;MQRankSum=1.679;QD=30.03;ReadPosRankSum=1.485;SB=-2726.06;TI=NM_004638,NM_080686;GI=PRRC2A,PRRC2A;FC=Missense_L1895V,Missense_L1895V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,195:197:99:5916,439,0:56:99:0.995 chr6 31611746 rs7770976 G A 773.39 PASS BaseQRankSum=0.424;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7523;MQ=53;MQ0=0;MQRankSum=1.763;QD=9.79;ReadPosRankSum=0.804;SB=-503.01;TI=NM_001098534,NM_004639,NM_080703,NM_080702,NM_001199697,NM_001199698;GI=BAG6,BAG6,BAG6,BAG6,BAG6,BAG6;FC=Synonymous_A523A,Synonymous_A529A,Synonymous_A523A,Synonymous_A523A,Synonymous_A522A,Synonymous_A523A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,32:79:99:803,0,1179:53:99:0.405 chr6 31615514 rs10484558 T C 1906.48 PASS BaseQRankSum=0.453;DP=144;Dels=0.00;FS=4.051;HRun=0;HaplotypeScore=13.8027;MQ=55;MQ0=0;MQRankSum=0.370;QD=13.24;ReadPosRankSum=-0.709;SB=-1091.92;TI=NM_001098534,NM_004639,NM_080703,NM_080702,NM_001199697,NM_001199698;GI=BAG6,BAG6,BAG6,BAG6,BAG6,BAG6;FC=Synonymous_T214T,Synonymous_T220T,Synonymous_T214T,Synonymous_T214T,Synonymous_T214T,Synonymous_T214T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,72:144:99:1936,0,2004:55:99:0.500 chr6 31625507 rs707922 G T 1469.49 PASS BaseQRankSum=0.893;DP=103;Dels=0.00;FS=2.701;HRun=0;HaplotypeScore=6.3318;MQ=55;MQ0=0;MQRankSum=2.872;QD=14.27;ReadPosRankSum=2.438;SB=-819.57;TI=NM_019101;GI=APOM;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,60:103:99:1499,0,1027:55:99:0.583 chr6 31630241 rs7992 C T 589.65 PASS BaseQRankSum=1.034;DP=31;Dels=0.00;FS=1.744;HRun=0;HaplotypeScore=1.7882;MQ=59;MQ0=0;MQRankSum=0.953;QD=19.02;ReadPosRankSum=-1.237;SB=-178.68;TI=NM_033177,NM_001199240,NM_001199239,NM_001199238,NM_001199237;GI=GPANK1,GPANK1,GPANK1,GPANK1,GPANK1;FC=Synonymous_R291R,Synonymous_R291R,Synonymous_R291R,Synonymous_R291R,Synonymous_R291R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,19:31:99:620,0,381:59:99:0.613 chr6 31631907 rs928814 G A 1460.75 PASS BaseQRankSum=0.612;DP=85;Dels=0.00;FS=1.887;HRun=1;HaplotypeScore=4.7396;MQ=55;MQ0=0;MQRankSum=0.860;QD=17.19;ReadPosRankSum=-0.943;SB=-755.14;TI=NM_033177,NM_001199240,NM_001199239,NM_001199238,NM_001199237;GI=GPANK1,GPANK1,GPANK1,GPANK1,GPANK1;FC=Synonymous_L117L,Synonymous_L117L,Synonymous_L117L,Synonymous_L117L,Synonymous_L117L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,55:85:99:1491,0,642:55:99:0.647 chr6 31632088 rs35499542 G C 316.27 PASS BaseQRankSum=-0.320;DP=52;Dels=0.00;FS=1.317;HRun=0;HaplotypeScore=5.4428;MQ=58;MQ0=0;MQRankSum=1.062;QD=6.08;ReadPosRankSum=1.599;SB=-135.08;TI=NM_033177,NM_001199240,NM_001199239,NM_001199238,NM_001199237;GI=GPANK1,GPANK1,GPANK1,GPANK1,GPANK1;FC=Missense_D56E,Missense_D56E,Missense_D56E,Missense_D56E,Missense_D56E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,14:52:99:346,0,1088:58:99:0.269 chr6 31709045 rs28381349 C T 1179.08 PASS BaseQRankSum=1.590;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4045;MQ=50;MQ0=0;MQRankSum=0.481;QD=10.43;ReadPosRankSum=1.811;SB=-729.28;TI=NM_172165,NM_172166,NM_002441,NM_025259;GI=MSH5,MSH5,MSH5,MSH5;FC=Missense_L85F,Missense_L85F,Missense_L85F,Missense_L85F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,52:113:99:1209,0,1326:50:99:0.464 chr6 31729359 rs707938;rs80093443 A G 3631.39 PASS DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3300;MQ=52;MQ0=0;QD=27.93;SB=-2236.29;TI=NM_172165,NM_172166,NM_002441,NM_025259;GI=MSH5,MSH5,MSH5,MSH5;FC=Synonymous_Q717Q,Synonymous_Q716Q,Synonymous_Q716Q,Synonymous_Q734Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:3631,259,0:52:99:1.000 chr6 31729925 rs1802127 C T 1991.68 PASS BaseQRankSum=1.163;DP=146;Dels=0.00;FS=0.628;HRun=0;HaplotypeScore=8.0968;MQ=51;MQ0=0;MQRankSum=1.717;QD=13.64;ReadPosRankSum=-0.963;SB=-1280.61;TI=NM_172165,NM_172166,NM_002441,NM_025259;GI=MSH5,MSH5,MSH5,MSH5;FC=Missense_P787S,Missense_P786S,Missense_P786S,Missense_P774S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,82:146:99:2022,0,1407:51:99:0.566 chr6 31778272 rs2227956 G A 740.79 PASS BaseQRankSum=1.595;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.456;QD=29.63;ReadPosRankSum=-0.208;SB=-280.59;TI=NM_005527;GI=HSPA1L;FC=Missense_T493M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,24:25:57.18:774,57,0:55:57:0.960 chr6 31783755 rs1043620;rs28491949 T C 5.06 LowGQX;LowGQ;SB;LowDP DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=12;MQ0=5;QD=0.84;SB=-0.01;TI=NM_005345;GI=HSPA1A;FC=Synonymous_I74I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:3.01:33,3,0:12:3:1.000 chr6 31785228 rs506770;rs33998554 G C 336.94 LowDP DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=38;MQ0=1;QD=22.46;SB=-220.46;TI=NM_005345;GI=HSPA1A;FC=Synonymous_A565A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,15:15:30.07:370,30,0:38:30:1.000 chr6 31797587 rs539689;rs61730067 C G 72.84 SB;LowDP BaseQRankSum=-1.050;DP=19;Dels=0.00;FS=2.754;HRun=2;HaplotypeScore=2.7440;MQ=48;MQ0=0;MQRankSum=0.150;QD=3.83;ReadPosRankSum=1.350;SB=-0.01;TI=NM_005346;GI=HSPA1B;FC=Synonymous_G620G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,4:19:99:103,0,411:48:73:0.211 chr6 31855703 . G A 638.58 PASS BaseQRankSum=1.278;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=56;MQ0=0;MQRankSum=-1.376;QD=14.85;ReadPosRankSum=0.256;SB=-352.69;TI=NM_025256,NM_006709;GI=EHMT2,EHMT2;FC=Missense_P560L,Missense_P594L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,23:43:99:669,0,585:56:99:0.535 chr6 31860337 rs535586 T C 3505.76 PASS DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=59;MQ0=0;QD=28.97;SB=-2333.88;TI=NM_025256,NM_006709;GI=EHMT2,EHMT2;FC=Synonymous_S237S,Synonymous_S237S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3506,253,0:59:99:1.000 chr6 31864304 rs659445 G A 3711.70 PASS DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7331;MQ=55;MQ0=0;QD=31.46;SB=-1783.13;TI=NM_025256,NM_006709;GI=EHMT2,EHMT2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,118:118:99:3712,277,0:55:99:1.000 chr6 31903804 rs9332739 G C 1089.54 PASS BaseQRankSum=-1.162;DP=84;Dels=0.00;FS=1.846;HRun=0;HaplotypeScore=8.1525;MQ=55;MQ0=0;MQRankSum=1.018;QD=12.97;ReadPosRankSum=-0.378;SB=-717.93;TI=NM_001178063,NM_001145903,NM_000063;GI=C2,C2,C2;FC=Silent,Missense_E186D,Missense_E318D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,47:84:99:1120,0,928:55:99:0.560 chr6 31905130 rs1042663 G A 1415.19 PASS BaseQRankSum=0.315;DP=109;Dels=0.00;FS=0.713;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;MQRankSum=-0.554;QD=12.98;ReadPosRankSum=-0.652;SB=-987.27;TI=NM_001178063,NM_001145903,NM_000063;GI=C2,C2,C2;FC=Synonymous_A127A,Synonymous_A209A,Synonymous_A341A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,62:109:99:1445,0,1072:50:99:0.569 chr6 31914024 rs4151667 T A 2232.06 PASS BaseQRankSum=0.948;DP=170;Dels=0.00;FS=4.987;HRun=0;HaplotypeScore=7.2299;MQ=55;MQ0=0;MQRankSum=-1.185;QD=13.13;ReadPosRankSum=-3.376;SB=-1050.76;TI=NM_001710;GI=CFB;FC=Missense_L9H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,87:170:99:2262,0,2281:55:99:0.512 chr6 31914180 rs641153 G A 2349.25 PASS BaseQRankSum=2.746;DP=181;Dels=0.00;FS=1.927;HRun=0;HaplotypeScore=8.2321;MQ=56;MQ0=0;MQRankSum=1.679;QD=12.98;ReadPosRankSum=0.078;SB=-994.83;TI=NM_001710;GI=CFB;FC=Missense_R32Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,88:181:99:2379,0,2320:56:99:0.486 chr6 31914935 rs1048709 A G 3155.18 PASS BaseQRankSum=1.645;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0596;MQ=56;MQ0=0;MQRankSum=1.703;QD=26.51;ReadPosRankSum=0.393;SB=-2168.07;TI=NM_001710;GI=CFB;FC=Synonymous_R150R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,118:119:99:3188,229,0:56:99:0.992 chr6 31915144 rs4151669 G A 1735.12 PASS BaseQRankSum=3.552;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8700;MQ=55;MQ0=0;MQRankSum=-1.556;QD=13.77;ReadPosRankSum=0.578;SB=-996.67;TI=NM_001710;GI=CFB;FC=Synonymous_P168P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,69:126:99:1765,0,1430:55:99:0.552 chr6 31928306 rs438999 A G 2023.95 PASS BaseQRankSum=-0.570;DP=145;Dels=0.00;FS=1.375;HRun=1;HaplotypeScore=6.7460;MQ=53;MQ0=0;MQRankSum=1.491;QD=13.96;ReadPosRankSum=1.093;SB=-1179.06;TI=NM_006929;GI=SKIV2L;FC=Missense_Q151R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,86:145:99:2054,0,1405:53:99:0.593 chr6 31929014 rs437179 A C 3208.41 PASS BaseQRankSum=0.238;DP=102;Dels=0.00;FS=3.329;HRun=0;HaplotypeScore=2.8912;MQ=58;MQ0=0;MQRankSum=0.883;QD=31.45;ReadPosRankSum=-1.494;SB=-1683.60;TI=NM_006929;GI=SKIV2L;FC=Missense_M214L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,101:102:99:3241,210,0:58:99:0.990 chr6 31936668 rs410851 T C 5380.42 PASS BaseQRankSum=1.711;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7253;MQ=56;MQ0=0;MQRankSum=1.648;QD=32.81;ReadPosRankSum=0.127;SB=-2886.76;TI=NM_006929;GI=SKIV2L;FC=Synonymous_Y1067Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,163:164:99:5380,400,0:56:99:0.994 chr6 31936679 rs449643 C T 1959.88 PASS BaseQRankSum=-0.118;DP=182;Dels=0.00;FS=6.554;HRun=0;HaplotypeScore=10.7136;MQ=56;MQ0=0;MQRankSum=-0.081;QD=10.77;ReadPosRankSum=-0.218;SB=-1128.91;TI=NM_006929;GI=SKIV2L;FC=Missense_A1071V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,76:182:99:1990,0,2916:56:99:0.418 chr6 31948421 rs35227293 TCTC T 2015.10 PASS BaseQRankSum=-7.129;DP=102;FS=0.000;HRun=0;HaplotypeScore=212.9809;MQ=50;MQ0=3;MQRankSum=3.401;QD=19.76;ReadPosRankSum=0.699;SB=-529.78;TI=NR_026717,NM_004197,NM_032454;GI=STK19,STK19,STK19;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,41:97:99:2054,0,2709:50:99:0.406 chr6 31948448 rs616634 A G 1383.97 PASS BaseQRankSum=-0.460;DP=104;Dels=0.00;FS=3.937;HRun=1;HaplotypeScore=4.7793;MQ=49;MQ0=3;MQRankSum=-3.285;QD=13.31;ReadPosRankSum=0.460;SB=-446.92;TI=NR_026717,NM_004197,NM_032454;GI=STK19,STK19,STK19;FC=Silent,Missense_S307G,Missense_S311G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,57:104:99:1414,0,1332:49:99:0.548 chr6 31964228 rs17855807;rs17874654 A G 1530.50 PASS BaseQRankSum=1.282;DP=228;Dels=0.00;FS=5.101;HRun=0;HaplotypeScore=12.9710;MQ=41;MQ0=1;MQRankSum=-1.382;QD=6.71;ReadPosRankSum=-2.879;SB=-976.10;TI=NM_007293,NM_001002029;GI=C4A,C4B;FC=Missense_N1176S,Missense_N1176S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:151,77:228:99:1560,0,3644:41:99:0.338 chr6 31964785 rs9501603 T G 35.63 LowGQX;LowGQ;SB;LowDP DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=25;MQ0=0;QD=11.88;SB=-0.01;TI=NM_007293,NM_001002029;GI=C4A,C4B;FC=Missense_S1286A,Missense_S1286A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,3:3:6.02:67,6,0:25:6:1.000 chr6 31974589 rs72502600 G C 307.83 PASS BaseQRankSum=2.819;DP=43;Dels=0.00;FS=2.755;HRun=0;HaplotypeScore=2.6548;MQ=47;MQ0=0;MQRankSum=-4.173;QD=7.16;ReadPosRankSum=0.899;SB=-163.12;TI=NM_000500,NM_001128590;GI=CYP21A2,CYP21A2;FC=Missense_G182R,Missense_G152R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,18:43:99:338,0,608:47:99:0.419 chr6 31974849 rs9501393;rs75179681 C G 190.31 LowGQ;LowDP DP=7;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.19;SB=-103.96;TI=NM_000500,NM_001128590;GI=CYP21A2,CYP21A2;FC=Missense_R235G,Missense_R205G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,7:7:18.04:223,18,0:54:18:1.000 chr6 31975113 rs6472;rs62402680;rs77333558 G C 196.21 LowGQ;LowDP DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=38;MQ0=0;QD=19.62;SB=-140.74;TI=NM_000500,NM_001128590;GI=CYP21A2,CYP21A2;FC=Missense_E266D,Missense_E236D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,10:10:18.05:229,18,0:38:18:1.000 chr6 31975151 rs6471;rs41315836 T G 294.27 LowGQ;LowDP DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42;MQ0=0;QD=21.02;SB=-227.44;TI=NM_000500,NM_001128590;GI=CYP21A2,CYP21A2;FC=Missense_L279R,Missense_L249R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,14:14:24.08:327,24,0:42:24:1.000 chr6 31975577 rs7769409 T C 5.06 LowGQX;LowGQ;SB;LowDP DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=23;MQ0=0;QD=2.53;SB=-0.01;TI=NM_000500,NM_001128590;GI=CYP21A2,CYP21A2;FC=Synonymous_C354C,Synonymous_C324C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,2:2:3.01:33,3,0:23:3:1.000 chr6 31976916 rs4959083 C T 5.06 LowGQX;LowGQ;SB;LowDP DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=7;MQ0=14;QD=0.34;SB=-0.01;TI=NR_001284,NM_032470;GI=TNXA,TNXB;FC=Silent,Synonymous_Q576Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:11,4:15:3.01:33,3,0:7:3:0.267 chr6 31976926 rs4959084 C T 5.06 LowGQX;LowGQ;SB;LowDP DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=7;MQ0=14;QD=0.34;SB=-0.01;TI=NR_001284,NM_032470;GI=TNXA,TNXB;FC=Silent,Missense_G573E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:11,4:15:3.01:33,3,0:7:3:0.267 chr6 31977528 rs4959086;rs76310711 C G 899.43 PASS BaseQRankSum=-1.733;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=43;MQ0=2;MQRankSum=-0.809;QD=28.11;ReadPosRankSum=1.155;SB=-530.83;TI=NR_001284,NM_032470;GI=TNXA,TNXB;FC=Silent,Missense_G460R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,31:32:34.60:932,35,0:43:35:0.969 chr6 31977552 rs6457479;rs77471377 C G 844.98 PASS DP=27;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41;MQ0=2;QD=31.30;SB=-257.78;TI=NR_001284,NM_032470;GI=TNXA,TNXB;FC=Silent,Missense_G452R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,27:27:69.21:878,69,0:41:69:1.000 chr6 31977838 rs7742632 G T 5.06 LowGQX;LowGQ;SB BaseQRankSum=0.804;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=7;MQ0=18;MQRankSum=0.804;QD=0.25;ReadPosRankSum=0.804;SB=-0.01;TI=NR_001284,NM_032470;GI=TNXA,TNXB;FC=Silent,Missense_A387D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:13,6:20:3.01:33,3,0:7:3:0.316 chr6 31978470 rs2734313;rs41316164 G C 371.88 SB DP=184;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=8;MQ0=173;QD=2.02;SB=-0.01;TI=NR_001284,NM_032470;GI=TNXA,TNXB;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:78,106:184:33.10:405,33,0:8:33:0.576 chr6 31996524 rs406658;rs56116673 C A 1212.48 PASS DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=39;MQ0=10;QD=20.90;SB=-870.65;TI=NM_007293,NM_001002029;GI=C4A,C4B;FC=Synonymous_G1095G,Synonymous_G1095G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:9,49:58:90.29:1245,90,0:39:90:0.845 chr6 32006317 rs6468;rs33986168;rs75038829;rs76349952 C T 5984.05 PASS DP=218;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3882;MQ=47;MQ0=2;QD=27.45;SB=-2922.76;TI=NM_001128590,NM_000500;GI=CYP21A2,CYP21A2;FC=Synonymous_L40L,Synonymous_L40L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,217:218:99:5984,442,0:47:99:0.995 chr6 32006337 rs6464;rs33947354;rs74766221;rs75910251 C A 1913.53 PASS BaseQRankSum=1.725;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2761;MQ=43;MQ0=7;MQRankSum=1.057;QD=10.12;ReadPosRankSum=0.815;SB=-725.84;TI=NM_001128590,NM_000500;GI=CYP21A2,CYP21A2;FC=Synonymous_P46P,Synonymous_P46P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,85:189:99:1944,0,2402:43:99:0.452 chr6 32007315 rs1040311 T C 9.97 LowVariantFreq;SB BaseQRankSum=0.924;DP=46;Dels=0.00;FS=2.156;HRun=1;HaplotypeScore=4.8483;MQ=46;MQ0=4;MQRankSum=-2.908;QD=0.22;ReadPosRankSum=-0.473;SB=-0.01;TI=NM_001128590,NM_000500;GI=CYP21A2,CYP21A2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,8:46:39.50:40,0,1003:46:10:0.182 chr6 32007849 rs6472;rs77333558 G C 70.57 PASS BaseQRankSum=0.710;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=47;MQ0=2;MQRankSum=-3.187;QD=1.96;ReadPosRankSum=2.172;SB=-46.91;TI=NM_001128590,NM_000500;GI=CYP21A2,CYP21A2;FC=Missense_S239T,Missense_S269T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,10:36:99:101,0,602:47:71:0.278 chr6 32007974 . C A 562.52 PASS BaseQRankSum=1.826;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=0.802;QD=16.07;ReadPosRankSum=0.290;SB=-278.35;TI=NM_001128590,NM_000500;GI=CYP21A2,CYP21A2;FC=Missense_H281N,Missense_H311N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,22:35:99:593,0,295:53:99:0.629 chr6 32009688 . C T 4.97 LowGQX;LowVariantFreq;LowGQ;SB;LowDP BaseQRankSum=0.804;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=11;MQ0=16;MQRankSum=0.804;QD=0.28;ReadPosRankSum=0.804;SB=-0.01;TI=NM_032470,NM_019105;GI=TNXB,TNXB;FC=Missense_G594S,Missense_G4163S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,1:18:27.42:33,0,27:11:5:0.056 chr6 32011204 rs2734313;rs28361047 G C 121.73 SB BaseQRankSum=2.793;DP=193;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=8;MQ0=181;MQRankSum=0.135;QD=0.63;ReadPosRankSum=-0.529;SB=-0.01;TI=NM_032470,NM_019105;GI=TNXB,TNXB;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,107:193:99:152,0,180:8:99:0.554 chr6 32012987 rs62402693 A G 1002.31 PASS BaseQRankSum=1.701;DP=98;Dels=0.00;FS=1.376;HRun=1;HaplotypeScore=11.7558;MQ=45;MQ0=2;MQRankSum=0.276;QD=10.23;ReadPosRankSum=1.067;SB=-68.92;TI=NM_032470,NM_019105;GI=TNXB,TNXB;FC=Missense_S4P,Missense_S3573P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,41:98:99:1032,0,1421:45:99:0.418 chr6 32017163 rs9267795 C A 1687.17 PASS BaseQRankSum=3.316;DP=161;Dels=0.00;FS=2.855;HRun=0;HaplotypeScore=5.3097;MQ=53;MQ0=0;MQRankSum=0.344;QD=10.48;ReadPosRankSum=2.237;SB=-1107.07;TI=NM_019105;GI=TNXB;FC=Missense_G3212V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,74:161:99:1717,0,2074:53:99:0.460 chr6 32046853 rs61998168 G A 266.44 SB BaseQRankSum=-0.200;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=57;MQ0=0;MQRankSum=0.868;QD=12.11;ReadPosRankSum=-1.068;SB=-0.01;TI=NM_019105;GI=TNXB;FC=Synonymous_H1444H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,9:22:99:296,0,377:57:99:0.409 chr6 32046944 rs9267799 C T 1296.67 PASS BaseQRankSum=1.357;DP=90;Dels=0.00;FS=4.344;HRun=0;HaplotypeScore=2.6548;MQ=53;MQ0=0;MQRankSum=1.556;QD=14.41;ReadPosRankSum=-0.737;SB=-766.55;TI=NM_019105;GI=TNXB;FC=Missense_R1414Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,55:90:99:1327,0,870:53:99:0.611 chr6 32151994 rs1800684 A T 2739.21 PASS DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5751;MQ=53;MQ0=0;QD=28.83;SB=-1462.93;TI=NM_172197,NM_001136;GI=AGER,AGER;FC=Synonymous_A2A,Synonymous_A2A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:95:99:2772,202,0:53:99:1.000 chr6 32168996 rs8192573 C G 1090.22 PASS BaseQRankSum=0.505;DP=119;Dels=0.00;FS=2.427;HRun=3;HaplotypeScore=0.8667;MQ=53;MQ0=0;MQRankSum=1.342;QD=9.16;ReadPosRankSum=-0.208;SB=-690.37;TI=NM_004557;GI=NOTCH4;FC=Missense_R1346P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,49:119:99:1120,0,1715:53:99:0.412 chr6 32172065 rs1044506 T G 6153.98 PASS DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5463;MQ=55;MQ0=0;QD=29.59;SB=-3227.90;TI=NM_004557;GI=NOTCH4;FC=Synonymous_G989G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,208:208:99:6154,445,0:55:99:1.000 chr6 32180241 rs206019 C T 613.53 PASS BaseQRankSum=1.833;DP=39;Dels=0.00;FS=1.309;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=0.505;QD=15.73;ReadPosRankSum=-0.419;SB=-259.30;TI=NM_004557;GI=NOTCH4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,24:39:99:644,0,427:54:99:0.615 chr6 32190390 rs915894 T G 1078.67 PASS BaseQRankSum=0.874;DP=66;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.0926;MQ=52;MQ0=0;MQRankSum=0.039;QD=16.34;ReadPosRankSum=-0.417;SB=-467.29;TI=NM_004557;GI=NOTCH4;FC=Missense_K117Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,39:66:99:1109,0,647:52:99:0.591 chr6 32190406 rs443198 A G 998.21 PASS BaseQRankSum=-0.279;DP=70;Dels=0.00;FS=0.932;HRun=0;HaplotypeScore=10.0626;MQ=53;MQ0=0;MQRankSum=1.584;QD=14.26;ReadPosRankSum=-0.113;SB=-482.82;TI=NM_004557;GI=NOTCH4;FC=Synonymous_G111G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,40:70:99:1028,0,756:53:99:0.571 chr6 32190484 rs8192569 G A 980.51 PASS BaseQRankSum=0.138;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2312;MQ=54;MQ0=0;MQRankSum=1.373;QD=12.73;ReadPosRankSum=1.812;SB=-568.51;TI=NM_004557;GI=NOTCH4;FC=Synonymous_P85P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,36:77:99:1011,0,987:54:99:0.468 chr6 32190871 rs2854049 T A 910.84 PASS BaseQRankSum=1.447;DP=75;Dels=0.00;FS=0.890;HRun=0;HaplotypeScore=7.1463;MQ=54;MQ0=0;MQRankSum=1.139;QD=12.14;ReadPosRankSum=0.758;SB=-532.71;TI=NM_004557;GI=NOTCH4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,37:75:99:941,0,853:54:99:0.493 chr6 32363816 rs2076530 T C 905.15 PASS BaseQRankSum=1.714;DP=56;Dels=0.00;FS=1.214;HRun=1;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=-1.002;QD=16.16;ReadPosRankSum=-2.045;SB=-240.48;TI=NM_019602;GI=BTNL2;FC=Unknown_360;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,32:56:99:935,0,638:58:99:0.571 chr6 32363844 rs9268480 C T 852.41 PASS BaseQRankSum=0.579;DP=84;Dels=0.00;FS=1.854;HRun=1;HaplotypeScore=4.6535;MQ=56;MQ0=0;MQRankSum=0.287;QD=10.15;ReadPosRankSum=1.280;SB=-401.58;TI=NM_019602;GI=BTNL2;FC=Synonymous_Q350Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,34:84:99:882,0,1163:56:99:0.405 chr6 32363955 rs2076529 T C 1898.15 PASS BaseQRankSum=1.311;DP=194;Dels=0.00;FS=5.083;HRun=0;HaplotypeScore=4.8450;MQ=50;MQ0=0;MQRankSum=-0.162;QD=9.78;ReadPosRankSum=2.461;SB=-1184.19;TI=NM_019602;GI=BTNL2;FC=Synonymous_V313V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,87:194:99:1928,0,2721:50:99:0.448 chr6 32370835 rs2076523 T C 404.99 PASS BaseQRankSum=0.293;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.697;QD=7.79;ReadPosRankSum=0.273;SB=-210.74;TI=NM_019602;GI=BTNL2;FC=Missense_K196E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,17:52:99:435,0,800:55:99:0.327 chr6 32410987 rs3135391 A G 3298.77 PASS DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=50;MQ0=0;QD=26.60;SB=-2020.36;TI=NM_019111;GI=HLA-DRA;FC=Synonymous_T118T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,124:124:99:3299,232,0:50:99:1.000 chr6 32411035 rs8084 A C 3380.93 PASS DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6817;MQ=52;MQ0=0;QD=26.62;SB=-2117.35;TI=NM_019111;GI=HLA-DRA;FC=Synonymous_I134I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:3381,238,0:52:99:1.000 chr6 32411523 rs2239804 T C 2771.66 PASS BaseQRankSum=0.986;DP=199;Dels=0.00;FS=2.470;HRun=0;HaplotypeScore=11.0875;MQ=53;MQ0=0;MQRankSum=2.349;QD=13.93;ReadPosRankSum=-1.278;SB=-1736.70;TI=NM_019111;GI=HLA-DRA;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,107:199:99:2802,0,2229:53:99:0.538 chr6 32411646 rs7192 T G 4057.91 PASS DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4156;MQ=55;MQ0=0;QD=28.18;SB=-2625.50;TI=NM_019111;GI=HLA-DRA;FC=Missense_L242V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,144:144:99:4058,295,0:55:99:1.000 chr6 32486391 . A G 86.00 LowGQ;SB;LowDP DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=18;MQ0=4;QD=10.75;SB=-0.01;TI=NM_002125;GI=HLA-DRB5;FC=Synonymous_F235F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,5:8:12.02:118,12,0:18:12:0.625 chr6 32486437 rs1136905 T C 86.00 LowGQ;SB;LowDP DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=22;MQ0=1;QD=17.20;SB=-0.01;TI=NM_002125;GI=HLA-DRB5;FC=Missense_Q220R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:12.02:118,12,0:22:12:1.000 chr6 32486447 . G A 86.00 LowGQ;SB;LowDP DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=22;MQ0=1;QD=17.20;SB=-0.01;TI=NM_002125;GI=HLA-DRB5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:12.02:118,12,0:22:12:1.000 chr6 32487170 rs1136633;rs17423930 G A 21.56 PASS BaseQRankSum=1.422;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8904;MQ=26;MQ0=5;MQRankSum=-1.648;QD=0.60;ReadPosRankSum=0.113;SB=-22.36;TI=NM_002125;GI=HLA-DRB5;FC=Missense_T210M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,11:36:51.52:52,0,405:26:22:0.306 chr6 32487174 rs1059699 C G 349.38 PASS BaseQRankSum=-0.817;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.8398;MQ=26;MQ0=5;MQRankSum=0.107;QD=9.71;ReadPosRankSum=1.102;SB=-107.76;TI=NM_002125;GI=HLA-DRB5;FC=Missense_V209L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,24:36:43.78:379,0,44:26:44:0.774 chr6 32487214 rs16822974;rs73405154;rs75673486 T C 653.56 PASS DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=24;MQ0=14;QD=12.57;SB=-198.93;TI=NM_002125;GI=HLA-DRB5;FC=Synonymous_R195R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:63.08:687,63,0:24:63:1.000 chr6 32487268 rs75732937 A G 879.25 PASS DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=27;MQ0=14;QD=12.21;SB=-501.06;TI=NM_002125;GI=HLA-DRB5;FC=Synonymous_I177I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:75.14:912,75,0:27:75:1.000 chr6 32487277 rs74198961;rs80350444 T C 7.32 LowGQX;LowVariantFreq;SB BaseQRankSum=0.883;DP=72;Dels=0.00;FS=8.813;HRun=2;HaplotypeScore=2.7714;MQ=28;MQ0=12;MQRankSum=-0.134;QD=0.10;ReadPosRankSum=1.498;SB=-0.01;TI=NM_002125;GI=HLA-DRB5;FC=Synonymous_T174T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,9:72:36.43:36,0,755:28:7:0.125 chr6 32487294 rs75709987 C T 737.06 PASS BaseQRankSum=0.381;DP=78;Dels=0.00;FS=2.000;HRun=0;HaplotypeScore=3.6655;MQ=28;MQ0=13;MQRankSum=0.649;QD=9.45;ReadPosRankSum=-3.187;SB=-473.63;TI=NM_002125;GI=HLA-DRB5;FC=Missense_A169T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,57:78:99:767,0,114:28:99:0.731 chr6 32487309 rs3200405;rs41545016 T C 909.65 PASS DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=28;MQ0=11;QD=13.99;SB=-443.01;TI=NM_002125;GI=HLA-DRB5;FC=Missense_S164G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:72.18:943,72,0:28:72:1.000 chr6 32487390 rs77180119 T G 408.07 PASS DP=31;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=26;MQ0=4;QD=13.16;SB=-267.71;TI=NM_002125;GI=HLA-DRB5;FC=Missense_T137P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,31:31:33.09:441,33,0:26:33:1.000 chr6 32487398 . C T 245.88 LowGQ DP=24;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=25;MQ0=1;QD=10.24;SB=-187.69;TI=NM_002125;GI=HLA-DRB5;FC=Missense_R134K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:21.06:279,21,0:25:21:1.000 chr6 32489671 . A G 8.81 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.118;DP=12;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=0.9958;MQ=26;MQ0=1;MQRankSum=-1.296;QD=0.73;ReadPosRankSum=-2.003;SB=-0.01;TI=NM_002125;GI=HLA-DRB5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:38.19:38,0,172:26:9:0.167 chr6 32489674 . A G 8.81 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.354;DP=12;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=0.9958;MQ=26;MQ0=1;MQRankSum=-0.825;QD=0.73;ReadPosRankSum=-2.003;SB=-0.01;TI=NM_002125;GI=HLA-DRB5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:38.19:38,0,187:26:9:0.167 chr6 32489675 . T C 8.81 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.354;DP=12;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=0.9958;MQ=26;MQ0=1;MQRankSum=-2.239;QD=0.73;ReadPosRankSum=-2.239;SB=-0.01;TI=NM_002125;GI=HLA-DRB5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:38.19:38,0,187:26:9:0.167 chr6 32489707 rs41559714 A C 58.80 LowDP BaseQRankSum=-0.791;DP=18;Dels=0.00;FS=2.077;HRun=2;HaplotypeScore=0.0000;MQ=35;MQ0=1;MQRankSum=-2.793;QD=3.27;ReadPosRankSum=-1.318;SB=-32.18;TI=NM_002125;GI=HLA-DRB5;FC=Synonymous_G115G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,6:18:88.79:89,0,253:35:59:0.333 chr6 32489708 rs41556512 C A 58.80 LowDP BaseQRankSum=-0.474;DP=18;Dels=0.00;FS=2.077;HRun=1;HaplotypeScore=0.0000;MQ=35;MQ0=1;MQRankSum=-2.583;QD=3.27;ReadPosRankSum=-2.161;SB=-32.18;TI=NM_002125;GI=HLA-DRB5;FC=Missense_G115V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,6:18:88.79:89,0,253:35:59:0.333 chr6 32489749 rs1064594 G A 87.12 LowGQX;LowGQ;LowDP DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=35;MQ0=0;QD=17.42;SB=-75.27;TI=NM_002125;GI=HLA-DRB5;FC=Synonymous_R101R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:9.03:119,9,0:35:9:1.000 chr6 32489791 rs41550412 A G 8.20 LowGQX;LowDP BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=26;MQ0=0;MQRankSum=-1.026;QD=2.05;ReadPosRankSum=-1.026;SB=-18.67;TI=NM_002125;GI=HLA-DRB5;FC=Synonymous_A87A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:37.48:37,0,39:26:8:0.500 chr6 32489794 rs1059350 G A 8.20 LowGQX;LowDP BaseQRankSum=0.000;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=26;MQ0=0;MQRankSum=-1.026;QD=2.05;ReadPosRankSum=-1.026;SB=-18.67;TI=NM_002125;GI=HLA-DRB5;FC=Synonymous_D86D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:37.48:37,0,39:26:8:0.500 chr6 32489822 . C T 9.29 LowGQX;LowDP BaseQRankSum=0.000;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=26;MQ0=0;MQRankSum=1.026;QD=2.32;ReadPosRankSum=-1.026;SB=-21.64;TI=NM_002125;GI=HLA-DRB5;FC=Missense_R77Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:37.48:39,0,37:26:9:0.500 chr6 32489835 . C G 9.27 LowGQX;LowDP BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=26;MQ0=0;MQRankSum=1.026;QD=2.32;ReadPosRankSum=-1.026;SB=-21.64;TI=NM_002125;GI=HLA-DRB5;FC=Missense_V73L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:37.48:39,0,37:26:9:0.500 chr6 32489846 . A T 13.70 LowGQX;LowGQ;LowDP DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=20;MQ0=0;QD=6.85;SB=-24.68;TI=NM_002125;GI=HLA-DRB5;FC=Missense_F69Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,2:2:3.01:43,3,0:20:3:1.000 chr6 32546866 rs9269693 T C 277.94 LowGQ;LowDP DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=32;MQ0=0;QD=21.38;SB=-194.85;TI=NM_002124;GI=HLA-DRB1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,13:13:27:311,27,0:32:27:1.000 chr6 32548032 rs17887154 T G 10.52 SB;LowDP BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9468;MQ=24;MQ0=0;MQRankSum=0.358;QD=2.10;ReadPosRankSum=0.358;SB=-0.01;TI=NM_002124;GI=HLA-DRB1;FC=Missense_Q260P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,2:5:40.11:40,0,70:24:11:0.400 chr6 32548544 . T G 86.79 LowVariantFreq;SB BaseQRankSum=2.985;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8878;MQ=36;MQ0=2;MQRankSum=-3.806;QD=0.68;ReadPosRankSum=1.711;SB=-0.01;TI=NM_002124;GI=HLA-DRB1;FC=Missense_I248L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,17:127:99:117,0,2520:36:87:0.134 chr6 32548545 . G A 122.46 LowVariantFreq;SB BaseQRankSum=1.883;DP=126;Dels=0.00;FS=1.579;HRun=2;HaplotypeScore=4.8878;MQ=37;MQ0=2;MQRankSum=-3.720;QD=0.97;ReadPosRankSum=1.841;SB=-0.01;TI=NM_002124;GI=HLA-DRB1;FC=Synonymous_F247F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,18:126:99:152,0,2400:37:99:0.143 chr6 32548581 . A G 783.56 PASS BaseQRankSum=1.757;DP=123;Dels=0.00;FS=1.764;HRun=0;HaplotypeScore=1.7333;MQ=36;MQ0=8;MQRankSum=1.242;QD=6.37;ReadPosRankSum=0.949;SB=-450.05;TI=NM_002124;GI=HLA-DRB1;FC=Synonymous_F235F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,37:123:99:814,0,1634:36:99:0.301 chr6 32548628 rs34624872 G A 4.37 LowGQX;LowVariantFreq;SB BaseQRankSum=1.678;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9583;MQ=32;MQ0=2;MQRankSum=-1.605;QD=0.10;ReadPosRankSum=0.977;SB=-0.01;TI=NM_002124;GI=HLA-DRB1;FC=Missense_R220W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,6:43:32.38:32,0,866:32:4:0.140 chr6 32548641 . A T 6.05 LowGQX;LowVariantFreq BaseQRankSum=1.614;DP=32;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=9.7447;MQ=29;MQ0=2;MQRankSum=-0.223;QD=0.19;ReadPosRankSum=-1.113;SB=-16.04;TI=NM_002124;GI=HLA-DRB1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,5:32:34.80:35,0,588:29:6:0.156 chr6 32548643 . G A 115.00 PASS BaseQRankSum=0.272;DP=32;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.7331;MQ=29;MQ0=2;MQRankSum=-0.950;QD=3.59;ReadPosRankSum=-0.091;SB=-78.81;TI=NM_002124;GI=HLA-DRB1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,9:32:99:145,0,477:29:99:0.281 chr6 32551875 . G A 125.97 LowGQ;LowDP DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=26;MQ0=0;QD=21.00;SB=-55.33;TI=NM_002124;GI=HLA-DRB1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:12.04:158,12,0:26:12:1.000 chr6 32551911 rs17882028 C A 26.17 PASS BaseQRankSum=2.126;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=28;MQ0=0;MQRankSum=0.331;QD=1.31;ReadPosRankSum=-2.693;SB=-26.19;TI=NM_002124;GI=HLA-DRB1;FC=Synonymous_V115V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,4:20:56.15:56,0,348:28:26:0.200 chr6 32551912 rs17885482 A C 26.17 PASS BaseQRankSum=1.087;DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=28;MQ0=0;MQRankSum=0.709;QD=1.31;ReadPosRankSum=-2.693;SB=-26.18;TI=NM_002124;GI=HLA-DRB1;FC=Missense_V115G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,4:20:56.15:56,0,349:28:26:0.200 chr6 32551928 rs29029549 G A 318.79 PASS BaseQRankSum=1.370;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=28;MQ0=0;MQRankSum=-0.898;QD=15.94;ReadPosRankSum=-0.803;SB=-197.15;TI=NM_002124;GI=HLA-DRB1;FC=Missense_H110Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,16:20:56.15:349,0,56:28:56:0.800 chr6 32551948 rs17886882 G T 130.25 LowDP BaseQRankSum=-1.468;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=25;MQ0=0;MQRankSum=-1.134;QD=10.85;ReadPosRankSum=1.239;SB=-98.51;TI=NM_002124;GI=HLA-DRB1;FC=Missense_A103E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,8:12:71.19:160,0,71:25:71:0.667 chr6 32551957 rs9269942;rs16822853 G C,T 148.09 LowDP DP=10;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MQ=25;MQ0=0;QD=14.81;SB=-132.99;TI=NM_002124;GI=HLA-DRB1;FC=Missense_A100G/Missense_A100E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:0,6,4:10:74.20:208,83,74,125,0,119:25:74:1.000 chr6 32551958 rs1064592 C T 190.40 LowGQ;LowDP DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=25;MQ0=0;QD=19.04;SB=-148.12;TI=NM_002124;GI=HLA-DRB1;FC=Missense_A100T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,10:10:15.05:223,15,0:25:15:1.000 chr6 32551960 rs17884070 T C 85.83 LowDP BaseQRankSum=-0.869;DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=24;MQ0=0;MQRankSum=1.378;QD=7.15;ReadPosRankSum=2.843;SB=-70.84;TI=NM_002124;GI=HLA-DRB1;FC=Missense_Q99R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,6:12:99:116,0,115:24:86:0.500 chr6 32551970 rs17886918 T G 189.86 LowGQ;LowDP DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=24;MQ0=0;QD=18.99;SB=-143.18;TI=NM_002124;GI=HLA-DRB1;FC=Missense_I96L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,10:10:15.05:223,15,0:24:15:1.000 chr6 32551995 rs17853229 A G 168.53 LowDP BaseQRankSum=-0.271;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=23;MQ0=2;MQRankSum=0.597;QD=9.36;ReadPosRankSum=-1.247;SB=-119.15;TI=NM_002124;GI=HLA-DRB1;FC=Synonymous_A87A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,12:18:99:199,0,110:23:99:0.667 chr6 32551998 rs17853228 G A 210.14 PASS BaseQRankSum=-0.702;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=23;MQ0=2;MQRankSum=-1.452;QD=10.51;ReadPosRankSum=-0.140;SB=-145.76;TI=NM_002124;GI=HLA-DRB1;FC=Synonymous_D86D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,14:20:99:240,0,107:23:99:0.700 chr6 32552029 rs17884945 A T 413.03 PASS DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=25;MQ0=4;QD=17.21;SB=-312.06;TI=NM_002124;GI=HLA-DRB1;FC=Missense_F76Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:30.10:446,30,0:25:30:1.000 chr6 32552059 rs17883134 G T 457.80 PASS DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=25;MQ0=4;QD=18.31;SB=-287.38;TI=NM_002124;GI=HLA-DRB1;FC=Missense_S66Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,25:25:36.11:491,36,0:25:36:1.000 chr6 32552067 rs1059348;rs17882603 C T 457.80 PASS DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=28;MQ0=0;QD=21.80;SB=-285.17;TI=NM_002124;GI=HLA-DRB1;FC=Synonymous_Q63Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,21:21:36.11:491,36,0:28:36:1.000 chr6 32552072 rs17879995 T G 457.80 PASS DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=28;MQ0=0;QD=21.80;SB=-287.38;TI=NM_002124;GI=HLA-DRB1;FC=Missense_N62H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,21:21:36.11:491,36,0:28:36:1.000 chr6 32552112 rs1136763;rs17886488 A G 108.05 LowGQ;LowDP DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=24;MQ0=0;QD=18.01;SB=-80.46;TI=NM_002124;GI=HLA-DRB1;FC=Synonymous_N48N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:12.01:141,12,0:24:12:1.000 chr6 32605257 rs1047989;rs74705834;rs75555135;rs78329561;rs79948038 C A 1306.92 PASS BaseQRankSum=1.235;DP=117;Dels=0.00;FS=7.699;HRun=0;HaplotypeScore=3.5489;MQ=44;MQ0=0;MQRankSum=-4.714;QD=11.17;ReadPosRankSum=-0.237;SB=-425.30;TI=NM_002122;GI=HLA-DQA1;FC=Missense_L8M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,57:117:99:1337,0,1507:44:99:0.487 chr6 32605274 rs1130034;rs78211461;rs80318326 T C 1275.59 PASS BaseQRankSum=1.221;DP=120;Dels=0.00;FS=6.278;HRun=1;HaplotypeScore=0.8941;MQ=44;MQ0=0;MQRankSum=-5.312;QD=10.63;ReadPosRankSum=0.050;SB=-417.94;TI=NM_002122;GI=HLA-DQA1;FC=Synonymous_A13A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,58:120:99:1306,0,1501:44:99:0.483 chr6 32605284 rs12722039 G A 1585.80 PASS BaseQRankSum=2.054;DP=121;Dels=0.00;FS=6.201;HRun=0;HaplotypeScore=2.6823;MQ=45;MQ0=0;MQRankSum=5.896;QD=13.11;ReadPosRankSum=-0.844;SB=-906.40;TI=NM_002122;GI=HLA-DQA1;FC=Missense_V17M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,64:121:99:1616,0,1386:45:99:0.529 chr6 32605295 rs1129735;rs9272433;rs76100559 C T 1270.57 PASS BaseQRankSum=1.241;DP=139;Dels=0.00;FS=5.747;HRun=1;HaplotypeScore=4.5498;MQ=45;MQ0=0;MQRankSum=-4.908;QD=9.14;ReadPosRankSum=2.746;SB=-439.03;TI=NM_002122;GI=HLA-DQA1;FC=Synonymous_P20P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,57:139:99:1301,0,1922:45:99:0.413 chr6 32605309 rs12722042;rs76453354 A G 1903.14 PASS BaseQRankSum=0.512;DP=146;Dels=0.00;FS=7.867;HRun=1;HaplotypeScore=1.7882;MQ=44;MQ0=0;MQRankSum=5.324;QD=13.04;ReadPosRankSum=-0.728;SB=-1257.54;TI=NM_002122;GI=HLA-DQA1;FC=Missense_D25G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,81:146:99:1933,0,1488:44:99:0.555 chr6 32609173 rs10093 C G 3784.45 PASS DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=31.54;SB=-2030.89;TI=NM_002122;GI=HLA-DQA1;FC=Missense_Q57E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:120:99:3784,280,0:56:99:1.000 chr6 32629129 rs1130432;rs17412893 T C 2763.66 PASS BaseQRankSum=-0.435;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8874;MQ=51;MQ0=0;MQRankSum=2.400;QD=27.92;ReadPosRankSum=2.226;SB=-1537.78;TI=NM_002123;GI=HLA-DQB1;FC=Missense_Q256R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,97:99:99:2797,169,0:51:99:0.980 chr6 32629155 rs17412886;rs77960343 C A 2714.55 PASS DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6756;MQ=53;MQ0=0;QD=27.99;SB=-1872.07;TI=NM_002123;GI=HLA-DQB1;FC=Synonymous_L247L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:2748,202,0:53:99:1.000 chr6 32629240 rs9273671 G A 1104.32 PASS BaseQRankSum=-0.311;DP=39;Dels=0.00;FS=6.532;HRun=3;HaplotypeScore=38.4808;MQ=55;MQ0=0;MQRankSum=1.644;QD=28.32;ReadPosRankSum=1.644;SB=-248.46;TI=NM_002123;GI=HLA-DQB1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,38:39:63.66:1137,64,0:55:64:0.974 chr6 32632578 rs1140322 T G 17.11 SB;LowDP BaseQRankSum=2.054;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=32;MQ0=0;MQRankSum=-2.054;QD=1.90;ReadPosRankSum=0.573;SB=-0.01;TI=NM_002123;GI=HLA-DQB1;FC=Synonymous_R126R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,3:9:47.01:47,0,112:32:17:0.333 chr6 32632581 rs1140321 T G 17.11 SB;LowDP BaseQRankSum=1.422;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=32;MQ0=0;MQRankSum=-2.054;QD=1.90;ReadPosRankSum=0.573;SB=-0.01;TI=NM_002123;GI=HLA-DQB1;FC=Synonymous_R125R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,3:9:47.01:47,0,116:32:17:0.333 chr6 32632587 rs1130397 A G 83.35 LowDP BaseQRankSum=-2.383;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=31;MQ0=0;MQRankSum=2.383;QD=8.34;ReadPosRankSum=-0.741;SB=-96.69;TI=NM_002123;GI=HLA-DQB1;FC=Synonymous_L123L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,6:10:65.69:113,0,66:31:66:0.600 chr6 32632589 rs1140320 A G 35.70 SB;LowDP BaseQRankSum=2.383;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=31;MQ0=0;MQRankSum=-2.383;QD=3.57;ReadPosRankSum=0.741;SB=-0.01;TI=NM_002123;GI=HLA-DQB1;FC=Missense_I122T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,4:10:65.69:66,0,113:31:36:0.400 chr6 32632592 rs1140319 C G 38.71 SB;LowDP BaseQRankSum=0.421;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;MQRankSum=-2.017;QD=4.84;ReadPosRankSum=0.000;SB=-0.01;TI=NM_002123;GI=HLA-DQB1;FC=Missense_G121A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,4:8:68.71:69,0,72:29:39:0.500 chr6 32632593 rs1140318 C T 38.71 SB;LowDP BaseQRankSum=0.922;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;MQRankSum=-2.017;QD=4.84;ReadPosRankSum=0.000;SB=-0.01;TI=NM_002123;GI=HLA-DQB1;FC=Missense_G121R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,4:8:68.71:69,0,72:29:39:0.500 chr6 32632598 rs17412833 A T 41.60 LowDP BaseQRankSum=-1.368;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;MQRankSum=2.017;QD=5.20;ReadPosRankSum=0.000;SB=-63.32;TI=NM_002123;GI=HLA-DQB1;FC=Missense_F119Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,4:8:68.71:72,0,69:29:42:0.500 chr6 32632599 rs9274379 A G 38.71 SB;LowDP BaseQRankSum=2.017;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;MQRankSum=-2.017;QD=4.84;ReadPosRankSum=0.000;SB=-0.01;TI=NM_002123;GI=HLA-DQB1;FC=Missense_F119L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,4:8:68.71:69,0,72:29:39:0.500 chr6 32632601 rs9274380 G T 38.71 SB;LowDP BaseQRankSum=1.638;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;MQRankSum=-2.017;QD=4.84;ReadPosRankSum=0.421;SB=-0.01;TI=NM_002123;GI=HLA-DQB1;FC=Missense_A118E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,4:8:68.71:69,0,72:29:39:0.500 chr6 32632605 rs1140317 C A 38.71 SB;LowDP BaseQRankSum=1.638;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29;MQ0=0;MQRankSum=-2.017;QD=4.84;ReadPosRankSum=0.922;SB=-0.01;TI=NM_002123;GI=HLA-DQB1;FC=Missense_V117L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,4:8:68.71:69,0,72:29:39:0.500 chr6 32632608 rs1140316 C G 80.47 LowDP BaseQRankSum=0.741;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=31;MQ0=0;MQRankSum=-1.133;QD=8.05;ReadPosRankSum=0.741;SB=-30.98;TI=NM_002123;GI=HLA-DQB1;FC=Missense_E116Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,6:10:68.59:110,0,69:31:69:0.600 chr6 32632628 rs1130392 G C 32.58 LowDP BaseQRankSum=-1.466;DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=29;MQ0=0;MQRankSum=2.237;QD=2.51;ReadPosRankSum=-2.855;SB=-47.82;TI=NM_002123;GI=HLA-DQB1;FC=Missense_T109R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,4:13:62.57:63,0,179:29:33:0.308 chr6 32632650 rs1130386 C T 151.73 LowGQ;LowDP BaseQRankSum=0.589;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=28;MQ0=0;MQRankSum=-1.296;QD=13.79;ReadPosRankSum=2.003;SB=-60.54;TI=NM_002123;GI=HLA-DQB1;FC=Missense_G102R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,9:11:20.81:182,0,21:28:21:0.818 chr6 32632687 rs1140314 A G 135.28 LowDP BaseQRankSum=-0.442;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=26;MQ0=0;MQRankSum=-2.737;QD=7.52;ReadPosRankSum=0.618;SB=-14.59;TI=NM_002123;GI=HLA-DQB1;FC=Synonymous_D89D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,9:18:99:165,0,169:26:99:0.500 chr6 32632688 rs1071637 T A 139.48 LowDP BaseQRankSum=-0.353;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=26;MQ0=0;MQRankSum=3.091;QD=7.75;ReadPosRankSum=-0.442;SB=-124.23;TI=NM_002123;GI=HLA-DQB1;FC=Missense_D89V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,9:18:99:169,0,165:26:99:0.500 chr6 32632694 rs1130380 C G 97.92 LowDP BaseQRankSum=-0.635;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=27;MQ0=0;MQRankSum=-2.435;QD=6.12;ReadPosRankSum=1.270;SB=-14.59;TI=NM_002123;GI=HLA-DQB1;FC=Missense_R87P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,7:16:99:128,0,175:27:98:0.438 chr6 32632700 rs1140313 T A 97.92 LowDP BaseQRankSum=0.318;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=27;MQ0=0;MQRankSum=-3.281;QD=6.12;ReadPosRankSum=-1.164;SB=-14.59;TI=NM_002123;GI=HLA-DQB1;FC=Missense_Q85L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,7:16:99:128,0,173:27:98:0.438 chr6 32632711 rs1049074 C T 145.44 LowDP BaseQRankSum=0.847;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=27;MQ0=0;MQRankSum=2.646;QD=9.09;ReadPosRankSum=3.070;SB=-123.54;TI=NM_002123;GI=HLA-DQB1;FC=Synonymous_A81A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,9:16:99:175,0,128:27:99:0.563 chr6 32632714 rs3210148 G C 336.32 LowDP DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=27;MQ0=0;QD=21.02;SB=-168.89;TI=NM_002123;GI=HLA-DQB1;FC=Synonymous_R80R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,16:16:32.99:369,33,0:27:33:1.000 chr6 32632724 rs1049083 C T 155.88 PASS BaseQRankSum=-1.681;DP=22;Dels=0.00;FS=2.331;HRun=0;HaplotypeScore=0.0000;MQ=26;MQ0=0;MQRankSum=-2.934;QD=7.09;ReadPosRankSum=-3.330;SB=-27.26;TI=NM_002123;GI=HLA-DQB1;FC=Missense_G77E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,10:22:99:186,0,235:26:99:0.455 chr6 32632744 rs1049082 C T 321.25 PASS BaseQRankSum=0.318;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=26;MQ0=0;MQRankSum=-1.884;QD=10.71;ReadPosRankSum=-2.900;SB=-189.41;TI=NM_002123;GI=HLA-DQB1;FC=Synonymous_A70A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,18:30:99:351,0,193:26:99:0.600 chr6 32632745 rs1063318 G A 189.71 PASS BaseQRankSum=-0.106;DP=30;Dels=0.00;FS=1.603;HRun=0;HaplotypeScore=0.0000;MQ=26;MQ0=0;MQRankSum=2.265;QD=6.32;ReadPosRankSum=2.307;SB=-149.86;TI=NM_002123;GI=HLA-DQB1;FC=Missense_A70V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,12:30:99:220,0,348:26:99:0.400 chr6 32632770 rs1049069;rs77080306 A G 58.56 PASS BaseQRankSum=-1.708;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=25;MQ0=0;MQRankSum=1.372;QD=2.09;ReadPosRankSum=-0.868;SB=-43.93;TI=NM_002123;GI=HLA-DQB1;FC=Missense_Y62H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,6:28:88.55:89,0,441:25:59:0.214 chr6 32632781 rs1049066 A T 535.36 PASS DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=25;MQ0=0;QD=18.46;SB=-347.16;TI=NM_002123;GI=HLA-DQB1;FC=Missense_L58H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,26:29:50.96:568,51,0:25:51:1.000 chr6 32632782 rs12722115 G A 557.07 PASS DP=29;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=25;MQ0=0;QD=19.21;SB=-346.25;TI=NM_002123;GI=HLA-DQB1;FC=Missense_L58F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,26:29:53.94:590,54,0:25:54:1.000 chr6 32632820 rs1130375 C G 601.53 PASS DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=26;MQ0=0;QD=21.48;SB=-400.33;TI=NM_002123;GI=HLA-DQB1;FC=Missense_G45A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,28:28:56.95:635,57,0:26:57:1.000 chr6 32632832 rs9274407;rs77051381;rs78476585 A T 512.22 PASS DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=25;MQ0=0;QD=21.34;SB=-328.49;TI=NM_002123;GI=HLA-DQB1;FC=Missense_F41Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:50.93:545,51,0:25:51:1.000 chr6 32797809 rs2228396 C T 1857.12 PASS BaseQRankSum=2.898;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3545;MQ=52;MQ0=0;MQRankSum=1.781;QD=9.98;ReadPosRankSum=1.369;SB=-1251.78;TI=NM_018833,NM_000544;GI=TAP2,TAP2;FC=Missense_A565T,Missense_A565T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,80:186:99:1887,0,2554:52:99:0.430 chr6 32797876 rs241436 A G 1835.06 PASS BaseQRankSum=0.409;DP=139;Dels=0.00;FS=4.078;HRun=3;HaplotypeScore=9.2922;MQ=56;MQ0=0;MQRankSum=0.113;QD=13.20;ReadPosRankSum=1.620;SB=-1221.00;TI=NM_018833,NM_000544;GI=TAP2,TAP2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,76:139:99:1865,0,1524:56:99:0.551 chr6 32800224 rs2228397 C A 920.60 PASS BaseQRankSum=1.969;DP=96;Dels=0.00;FS=1.683;HRun=0;HaplotypeScore=6.6539;MQ=52;MQ0=0;MQRankSum=1.850;QD=9.59;ReadPosRankSum=-1.134;SB=-527.88;TI=NM_018833,NM_000544;GI=TAP2,TAP2;FC=Synonymous_G386G,Synonymous_G386G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,39:96:99:951,0,1400:52:99:0.406 chr6 32800412 rs1800454 C T 799.69 PASS BaseQRankSum=1.988;DP=70;Dels=0.00;FS=0.912;HRun=0;HaplotypeScore=2.7879;MQ=54;MQ0=0;MQRankSum=0.635;QD=11.42;ReadPosRankSum=0.624;SB=-476.73;TI=NM_018833,NM_000544;GI=TAP2,TAP2;FC=Missense_V379I,Missense_V379I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,33:70:99:830,0,943:54:99:0.471 chr6 32805789 rs2229526 G T 974.59 PASS BaseQRankSum=2.628;DP=85;Dels=0.00;FS=5.726;HRun=0;HaplotypeScore=5.2752;MQ=54;MQ0=0;MQRankSum=1.528;QD=11.47;ReadPosRankSum=0.806;SB=-456.86;TI=NM_018833,NM_000544;GI=TAP2,TAP2;FC=Synonymous_P74P,Synonymous_P74P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,40:85:99:1005,0,1096:54:99:0.471 chr6 32806007 rs61736918 G A 47.67 SB;LowDP BaseQRankSum=-0.715;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=1.931;QD=4.33;ReadPosRankSum=-0.566;SB=-0.01;TI=NM_018833,NM_000544;GI=TAP2,TAP2;FC=Missense_R2W,Missense_R2W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,3:11:77.67:78,0,288:60:48:0.273 chr6 32810443 rs9276810 G A 843.00 PASS BaseQRankSum=0.878;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5485;MQ=55;MQ0=0;MQRankSum=1.190;QD=10.16;ReadPosRankSum=-0.473;SB=-516.93;TI=NM_148919,NM_004159;GI=PSMB8,PSMB8;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,36:83:99:873,0,1112:55:99:0.434 chr6 32818774 rs1057141 T C 1223.64 PASS BaseQRankSum=0.196;DP=120;Dels=0.00;FS=0.694;HRun=1;HaplotypeScore=3.7396;MQ=54;MQ0=0;MQRankSum=-1.649;QD=10.20;ReadPosRankSum=-0.951;SB=-751.82;TI=NM_000593;GI=TAP1;FC=Missense_I393V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,53:120:99:1254,0,1653:54:99:0.442 chr6 32904981 rs1042337 G A 3233.06 PASS DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=49;MQ0=0;QD=25.66;SB=-2502.52;TI=NM_002118;GI=HLA-DMB;FC=Missense_T197I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:3265,229,0:49:99:1.000 chr6 32975257 rs365066 C T 1821.98 PASS BaseQRankSum=-1.645;DP=131;Dels=0.00;FS=2.233;HRun=0;HaplotypeScore=7.8567;MQ=57;MQ0=0;MQRankSum=-2.163;QD=13.91;ReadPosRankSum=1.020;SB=-1130.27;TI=NM_002119;GI=HLA-DOA;FC=Synonymous_L148L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,72:131:99:1852,0,1446:57:99:0.550 chr6 32975896 rs364950 A G 1675.68 PASS BaseQRankSum=0.623;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3762;MQ=57;MQ0=0;MQRankSum=-0.073;QD=11.10;ReadPosRankSum=-1.123;SB=-1091.76;TI=NM_002119;GI=HLA-DOA;FC=Synonymous_G75G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,72:151:99:1706,0,1911:57:99:0.480 chr6 32977315 rs403414 A G 2233.39 PASS BaseQRankSum=-0.761;DP=191;Dels=0.00;FS=3.360;HRun=0;HaplotypeScore=3.7991;MQ=51;MQ0=0;MQRankSum=1.316;QD=11.69;ReadPosRankSum=-0.648;SB=-1207.96;TI=NM_002119;GI=HLA-DOA;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,94:191:99:2263,0,2207:51:99:0.492 chr6 33048457 rs1126504;rs77274677 C G 201.23 PASS BaseQRankSum=2.115;DP=56;Dels=0.00;FS=1.409;HRun=0;HaplotypeScore=3.6770;MQ=52;MQ0=0;MQRankSum=-3.966;QD=3.59;ReadPosRankSum=2.914;SB=-96.77;TI=NM_002121;GI=HLA-DPB1;FC=Missense_L37V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,11:56:99:231,0,1235:52:99:0.200 chr6 33048459 rs1126506;rs75052275 T G 199.36 LowVariantFreq BaseQRankSum=0.701;DP=56;Dels=0.00;FS=3.007;HRun=0;HaplotypeScore=3.6770;MQ=52;MQ0=0;MQRankSum=-3.588;QD=3.56;ReadPosRankSum=2.928;SB=-99.77;TI=NM_002121;GI=HLA-DPB1;FC=Synonymous_L37L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,11:56:99:229,0,1241:52:99:0.196 chr6 33048460 rs12722013 T C 185.06 LowVariantFreq BaseQRankSum=-1.897;DP=56;Dels=0.00;FS=1.393;HRun=0;HaplotypeScore=3.6770;MQ=52;MQ0=0;MQRankSum=-3.547;QD=3.30;ReadPosRankSum=2.887;SB=-89.38;TI=NM_002121;GI=HLA-DPB1;FC=Missense_F38L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,11:56:99:215,0,1282:52:99:0.196 chr6 33048461 rs1126509;rs75846523 T A 192.14 LowVariantFreq BaseQRankSum=-1.072;DP=56;Dels=0.00;FS=1.381;HRun=0;HaplotypeScore=4.5711;MQ=52;MQ0=0;MQRankSum=-3.485;QD=3.43;ReadPosRankSum=2.743;SB=-90.68;TI=NM_002121;GI=HLA-DPB1;FC=Missense_F38Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,11:56:99:222,0,1246:52:99:0.196 chr6 33048466 rs1126511 G T 259.86 PASS BaseQRankSum=0.261;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=52;MQ0=0;MQRankSum=-3.058;QD=4.48;ReadPosRankSum=1.473;SB=-97.63;TI=NM_002121;GI=HLA-DPB1;FC=Nonsense_G40X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,13:58:99:290,0,1196:52:99:0.224 chr6 33048467 rs1126513;rs78726154 G T 222.78 PASS BaseQRankSum=1.382;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=52;MQ0=0;MQRankSum=-3.643;QD=3.71;ReadPosRankSum=1.615;SB=-98.35;TI=NM_002121;GI=HLA-DPB1;FC=Missense_G40V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,13:60:99:253,0,1322:52:99:0.217 chr6 33048542 rs1042121;rs77225213 C T 3591.49 PASS BaseQRankSum=-0.203;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.5444;MQ=49;MQ0=0;MQRankSum=2.256;QD=28.28;ReadPosRankSum=2.140;SB=-2127.47;TI=NM_002121;GI=HLA-DPB1;FC=Missense_A65V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,125:127:99:3591,238,0:49:99:0.984 chr6 33048599 rs707958;rs75493717;rs79440159 C A 3233.06 PASS DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.2936;MQ=48;MQ0=0;QD=26.94;SB=-2034.21;TI=NM_002121;GI=HLA-DPB1;FC=Missense_A84D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:120:99:3266,253,0:48:99:1.000 chr6 33048602 rs1042131 C A 2984.83 PASS BaseQRankSum=1.748;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.2143;MQ=48;MQ0=0;MQRankSum=1.163;QD=26.65;ReadPosRankSum=1.163;SB=-1708.39;TI=NM_002121;GI=HLA-DPB1;FC=Missense_A85E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,107:112:99:3018,199,0:48:99:0.964 chr6 33048606 rs1042133 G C 1025.01 PASS BaseQRankSum=-0.237;DP=107;Dels=0.00;FS=2.623;HRun=0;HaplotypeScore=9.1443;MQ=48;MQ0=0;MQRankSum=-4.427;QD=9.58;ReadPosRankSum=0.066;SB=-584.60;TI=NM_002121;GI=HLA-DPB1;FC=Missense_E86D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,45:107:99:1055,0,1525:48:99:0.421 chr6 33048640 rs1042140;rs76170062 A G 2576.25 PASS BaseQRankSum=1.653;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8833;MQ=51;MQ0=0;MQRankSum=1.535;QD=29.28;ReadPosRankSum=-1.575;SB=-1224.60;TI=NM_002121;GI=HLA-DPB1;FC=Missense_K98E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,87:88:99:2609,182,0:51:99:0.989 chr6 33048686 rs1042169;rs76513735 G A 369.07 PASS BaseQRankSum=-0.410;DP=48;Dels=0.00;FS=5.622;HRun=0;HaplotypeScore=0.9983;MQ=54;MQ0=0;MQRankSum=-2.587;QD=7.69;ReadPosRankSum=-0.690;SB=-144.58;TI=NM_002121;GI=HLA-DPB1;FC=Missense_G113D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,17:48:99:399,0,1000:54:99:0.354 chr6 33048689 rs9277354 G A 311.94 PASS BaseQRankSum=1.664;DP=46;Dels=0.00;FS=6.128;HRun=0;HaplotypeScore=0.9983;MQ=54;MQ0=0;MQRankSum=-2.320;QD=6.78;ReadPosRankSum=0.164;SB=-156.19;TI=NM_002121;GI=HLA-DPB1;FC=Missense_G114E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,15:46:99:342,0,999:54:99:0.326 chr6 33048691 rs9277355 C G 317.96 PASS BaseQRankSum=0.656;DP=46;Dels=0.00;FS=9.060;HRun=3;HaplotypeScore=0.9983;MQ=54;MQ0=0;MQRankSum=-2.296;QD=6.91;ReadPosRankSum=0.164;SB=-159.21;TI=NM_002121;GI=HLA-DPB1;FC=Missense_P115A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,15:46:99:348,0,932:54:99:0.326 chr6 33048694 rs9277356;rs74644530 A G 284.52 PASS BaseQRankSum=-1.172;DP=44;Dels=0.00;FS=10.833;HRun=0;HaplotypeScore=0.9983;MQ=54;MQ0=0;MQRankSum=-1.121;QD=6.47;ReadPosRankSum=0.139;SB=-155.64;TI=NM_002121;GI=HLA-DPB1;FC=Missense_M116V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,14:44:99:315,0,955:54:99:0.318 chr6 33095615 rs3117014;rs77477192 T C 3214.09 PASS DP=94;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.6548;MQ=56;MQ0=0;QD=34.19;SB=-616.76;TI=NR_001435;GI=HLA-DPB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:3247,244,0:56:99:1.000 chr6 33095636 rs3117013;rs75469702 A G 3894.61 PASS BaseQRankSum=0.933;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3094;MQ=56;MQ0=0;MQRankSum=1.022;QD=33.29;ReadPosRankSum=1.022;SB=-1139.41;TI=NR_001435;GI=HLA-DPB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,116:117:99:3895,259,0:56:99:0.991 chr6 33095647 rs9277761;rs74928798 G C 2101.05 PASS BaseQRankSum=2.017;DP=134;Dels=0.00;FS=0.731;HRun=1;HaplotypeScore=6.5199;MQ=55;MQ0=0;MQRankSum=-0.605;QD=15.68;ReadPosRankSum=-2.192;SB=-723.58;TI=NR_001435;GI=HLA-DPB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,75:134:99:2131,0,1576:55:99:0.560 chr6 33095684 rs3117012 A G 5510.37 PASS BaseQRankSum=0.457;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1234;MQ=55;MQ0=0;MQRankSum=-0.857;QD=30.28;ReadPosRankSum=-1.313;SB=-2579.99;TI=NR_001435;GI=HLA-DPB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,181:182:99:5510,372,0:55:99:0.995 chr6 33095737 rs9277762;rs61997239 G A 6990.12 PASS BaseQRankSum=-0.048;DP=261;Dels=0.00;FS=3.153;HRun=0;HaplotypeScore=11.1545;MQ=54;MQ0=4;MQRankSum=0.034;QD=26.78;ReadPosRankSum=0.075;SB=-4629.88;TI=NR_001435;GI=HLA-DPB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,252:261:99:6990,471,0:54:99:0.981 chr6 33095748 rs9277763 C G 6942.49 PASS BaseQRankSum=1.023;DP=253;Dels=0.00;FS=3.517;HRun=0;HaplotypeScore=17.1847;MQ=53;MQ0=4;MQRankSum=0.522;QD=27.44;ReadPosRankSum=0.772;SB=-4177.32;TI=NR_001435;GI=HLA-DPB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,248:253:99:6942,472,0:53:99:0.980 chr6 33095801 rs3129273 C T 6330.51 PASS BaseQRankSum=2.356;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1697;MQ=54;MQ0=0;MQRankSum=-0.298;QD=30.15;ReadPosRankSum=-0.064;SB=-2839.54;TI=NR_001435;GI=HLA-DPB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,208:210:99:6331,469,0:54:99:0.990 chr6 33095836 rs3117011 G A 5496.92 PASS BaseQRankSum=2.276;DP=184;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.1439;MQ=54;MQ0=0;MQRankSum=1.435;QD=29.87;ReadPosRankSum=-0.127;SB=-2151.87;TI=NR_001435;GI=HLA-DPB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,182:184:99:5497,365,0:54:99:0.989 chr6 33096422 rs61746265 G C 677.18 PASS BaseQRankSum=-1.340;DP=62;Dels=0.00;FS=2.235;HRun=0;HaplotypeScore=4.8930;MQ=49;MQ0=0;MQRankSum=0.141;QD=10.92;ReadPosRankSum=-2.539;SB=-295.12;TI=NR_001435;GI=HLA-DPB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,29:62:99:707,0,738:49:99:0.468 chr6 33096426 rs3129272 C T 702.75 PASS BaseQRankSum=2.044;DP=63;Dels=0.00;FS=2.238;HRun=2;HaplotypeScore=4.8930;MQ=49;MQ0=0;MQRankSum=0.145;QD=11.15;ReadPosRankSum=2.677;SB=-447.64;TI=NR_001435;GI=HLA-DPB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,33:63:99:733,0,734:49:99:0.524 chr6 33096514 rs3117007 G C 1020.89 PASS DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=30.03;SB=-590.85;TI=NR_001435;GI=HLA-DPB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:78.25:1054,78,0:55:78:1.000 chr6 33132114 . C T 1905.42 PASS BaseQRankSum=1.585;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9893;MQ=52;MQ0=0;MQRankSum=0.400;QD=11.69;ReadPosRankSum=2.043;SB=-1306.32;TI=NM_080681,NM_080680,NM_080679;GI=COL11A2,COL11A2,COL11A2;FC=Missense_R1581H,Missense_R1667H,Missense_R1560H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,80:163:99:1935,0,1924:52:99:0.491 chr6 33136310 rs2229784 G T 1705.55 PASS BaseQRankSum=1.776;DP=169;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=11.3242;MQ=54;MQ0=0;MQRankSum=2.194;QD=10.09;ReadPosRankSum=-0.591;SB=-994.49;TI=NM_080681,NM_080680,NM_080679;GI=COL11A2,COL11A2,COL11A2;FC=Missense_P1230T,Missense_P1316T,Missense_P1209T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,74:169:99:1736,0,2304:54:99:0.438 chr6 33138677 rs1799911 G A 1601.22 PASS BaseQRankSum=0.147;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3084;MQ=52;MQ0=0;MQRankSum=0.608;QD=9.88;ReadPosRankSum=-0.359;SB=-1049.34;TI=NM_080681,NM_080680,NM_080679;GI=COL11A2,COL11A2,COL11A2;FC=Synonymous_P1042P,Synonymous_P1128P,Synonymous_P1021P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,72:162:99:1631,0,1950:52:99:0.444 chr6 33138955 rs2855437 G A 2915.85 PASS BaseQRankSum=2.204;DP=232;Dels=0.00;FS=2.971;HRun=2;HaplotypeScore=5.3645;MQ=56;MQ0=0;MQRankSum=1.291;QD=12.57;ReadPosRankSum=-2.090;SB=-1902.22;TI=NM_080681,NM_080680,NM_080679;GI=COL11A2,COL11A2,COL11A2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,126:232:99:2946,0,2595:56:99:0.543 chr6 33139328 rs1799910 C T 1586.86 PASS BaseQRankSum=-0.798;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4678;MQ=55;MQ0=0;MQRankSum=0.681;QD=14.56;ReadPosRankSum=0.059;SB=-762.84;TI=NM_080681,NM_080680,NM_080679;GI=COL11A2,COL11A2,COL11A2;FC=Synonymous_P972P,Synonymous_P1058P,Synonymous_P951P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,58:109:99:1617,0,1250:55:99:0.537 chr6 33141161 rs2229785 A G 3962.19 PASS BaseQRankSum=-0.982;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7268;MQ=54;MQ0=0;MQRankSum=-0.310;QD=29.57;ReadPosRankSum=0.026;SB=-2214.46;TI=NM_080681,NM_080680,NM_080679;GI=COL11A2,COL11A2,COL11A2;FC=Synonymous_D814D,Synonymous_D900D,Synonymous_D793D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,133:134:99:3962,257,0:54:99:0.993 chr6 33141475 rs970901 C T 275.24 PASS BaseQRankSum=-1.510;DP=22;Dels=0.00;FS=10.650;HRun=1;HaplotypeScore=1.7882;MQ=47;MQ0=0;MQRankSum=1.248;QD=12.51;ReadPosRankSum=1.248;SB=-67.21;TI=NM_080681,NM_080680,NM_080679;GI=COL11A2,COL11A2,COL11A2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,11:22:99:305,0,339:47:99:0.500 chr6 33144243 rs1799908 T A 467.17 PASS BaseQRankSum=1.568;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=56;MQ0=0;MQRankSum=0.419;QD=8.98;ReadPosRankSum=1.003;SB=-284.14;TI=NM_080681,NM_080680,NM_080679;GI=COL11A2,COL11A2,COL11A2;FC=Synonymous_G626G,Synonymous_G712G,Synonymous_G605G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,19:52:99:497,0,878:56:99:0.373 chr6 33147589 rs3129201 T G 2252.50 PASS DP=84;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7183;MQ=51;MQ0=0;QD=26.82;SB=-1536.53;TI=NM_080681,NM_080680,NM_080679;GI=COL11A2,COL11A2,COL11A2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2286,166,0:51:99:1.000 chr6 33152835 rs1799907 A T 1898.44 PASS BaseQRankSum=-1.634;DP=190;Dels=0.00;FS=0.534;HRun=0;HaplotypeScore=4.4430;MQ=53;MQ0=0;MQRankSum=-0.222;QD=9.99;ReadPosRankSum=-1.946;SB=-1344.56;TI=NM_080681,NM_080680,NM_080679;GI=COL11A2,COL11A2,COL11A2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,89:190:99:1928,0,2361:53:99:0.468 chr6 33153528 rs9277934 C T 755.72 PASS BaseQRankSum=-1.704;DP=64;Dels=0.00;FS=5.557;HRun=1;HaplotypeScore=20.8935;MQ=46;MQ0=0;MQRankSum=1.004;QD=11.81;ReadPosRankSum=0.365;SB=-416.37;TI=NM_080681,NM_080680,NM_080679;GI=COL11A2,COL11A2,COL11A2;FC=Silent,Missense_E276K,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,38:64:99:786,0,564:46:99:0.623 chr6 33272855 rs2071888 G C 6615.65 PASS DP=248;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3364;MQ=54;MQ0=0;QD=26.68;SB=-4376.54;TI=NM_003190,NM_172209,NM_172208;GI=TAPBP,TAPBP,TAPBP;FC=Missense_T260R,Missense_T173R,Missense_T260R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,248:248:99:6616,473,0:54:99:1.000 chr6 33405818 . C G 7.25 LowGQX;LowVariantFreq;SB BaseQRankSum=-2.566;DP=83;Dels=0.01;FS=64.669;HRun=3;HaplotypeScore=30.4569;MQ=50;MQ0=0;MQRankSum=-3.367;QD=0.09;ReadPosRankSum=-3.115;SB=-0.01;TI=NM_006772;GI=SYNGAP1;FC=Missense_S379W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,9:82:36.34:36,0,2323:50:7:0.110 chr6 33405822 . A G 81.42 LowVariantFreq;SB BaseQRankSum=-4.677;DP=88;Dels=0.02;FS=87.983;HRun=5;HaplotypeScore=25.6413;MQ=49;MQ0=0;MQRankSum=-4.097;QD=0.93;ReadPosRankSum=-4.336;SB=-0.01;TI=NM_006772;GI=SYNGAP1;FC=Synonymous_G380G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,15:86:99:111,0,2219:49:81:0.174 chr6 33405828 . A G 146.00 SB BaseQRankSum=-4.674;DP=86;Dels=0.00;FS=100.601;HRun=5;HaplotypeScore=39.0371;MQ=49;MQ0=0;MQRankSum=-4.910;QD=1.70;ReadPosRankSum=-4.437;SB=-0.01;TI=NM_006772;GI=SYNGAP1;FC=Synonymous_G382G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,18:86:99:176,0,2138:49:99:0.212 chr6 33405836 . C G 25.78 LowVariantFreq;SB BaseQRankSum=-4.513;DP=99;Dels=0.00;FS=88.858;HRun=6;HaplotypeScore=45.7619;MQ=49;MQ0=0;MQRankSum=-4.091;QD=0.26;ReadPosRankSum=-2.618;SB=-0.01;TI=NM_006772;GI=SYNGAP1;FC=Missense_S385W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,17:99:55.77:56,0,2368:49:26:0.173 chr6 33419629 . A C 132.30 SB BaseQRankSum=-4.161;DP=100;Dels=0.00;FS=95.158;HRun=5;HaplotypeScore=30.0842;MQ=47;MQ0=0;MQRankSum=-1.346;QD=1.32;ReadPosRankSum=-3.133;SB=-0.01;TI=NM_006772;GI=SYNGAP1;FC=Synonymous_P1326P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,20:100:99:162,0,2224:47:99:0.202 chr6 33626900 . A G 26.47 LowVariantFreq;SB BaseQRankSum=-4.716;DP=105;Dels=0.01;FS=70.020;HRun=5;HaplotypeScore=37.6376;MQ=44;MQ0=0;MQRankSum=-3.050;QD=0.25;ReadPosRankSum=0.599;SB=-0.01;TI=NM_002224;GI=ITPR3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,16:104:56.45:56,0,2559:44:26:0.154 chr6 33636907 rs2077163 C T 1892.25 PASS DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;QD=31.02;SB=-990.93;TI=NM_002224;GI=ITPR3;FC=Synonymous_H721H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1925,141,0:51:99:1.000 chr6 33638180 rs2229634 C T 2425.46 PASS BaseQRankSum=0.349;DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6477;MQ=53;MQ0=0;MQRankSum=4.059;QD=12.63;ReadPosRankSum=-0.279;SB=-1428.86;TI=NM_002224;GI=ITPR3;FC=Synonymous_G756G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,98:192:99:2455,0,2143:53:99:0.510 chr6 33641379 rs1803831 T C 2082.88 PASS DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2929;MQ=50;MQ0=0;QD=26.37;SB=-1503.35;TI=NM_002224;GI=ITPR3;FC=Synonymous_N980N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2116,153,0:50:99:1.000 chr6 33646328 rs2274195 T C 4472.89 PASS BaseQRankSum=1.519;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=29.7247;MQ=52;MQ0=0;MQRankSum=1.020;QD=30.22;ReadPosRankSum=-1.376;SB=-2036.33;TI=NM_002224;GI=ITPR3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,145:148:99:4473,349,0:52:99:0.993 chr6 33647651 rs4713654 A G 2469.95 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5213;MQ=54;MQ0=0;QD=28.72;SB=-1166.70;TI=NM_002224;GI=ITPR3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:86:99:2503,184,0:54:99:1.000 chr6 33647853 . C T 1667.36 PASS BaseQRankSum=2.051;DP=136;Dels=0.00;FS=3.254;HRun=0;HaplotypeScore=1.9995;MQ=54;MQ0=0;MQRankSum=1.436;QD=12.26;ReadPosRankSum=0.759;SB=-640.78;TI=NM_002224;GI=ITPR3;FC=Synonymous_S1389S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,63:136:99:1697,0,1854:54:99:0.463 chr6 33648103 . C T 723.96 PASS BaseQRankSum=0.120;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=0.328;QD=12.70;ReadPosRankSum=-1.143;SB=-427.54;TI=NM_002224;GI=ITPR3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,30:57:99:754,0,647:54:99:0.526 chr6 33648228 rs2229638 C T 2114.24 PASS DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=52;MQ0=0;QD=29.36;SB=-1135.43;TI=NM_002224;GI=ITPR3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:72:99:2147,160,0:52:99:1.000 chr6 33653448 rs749338 C T 1615.19 PASS BaseQRankSum=1.989;DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8936;MQ=55;MQ0=0;MQRankSum=-0.326;QD=14.82;ReadPosRankSum=-0.807;SB=-830.89;TI=NM_002224;GI=ITPR3;FC=Synonymous_G1837G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,60:109:99:1645,0,1306:55:99:0.550 chr6 33659472 rs2229642 C G 2387.50 PASS DP=89;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8938;MQ=52;MQ0=0;QD=26.83;SB=-1508.16;TI=NM_002224;GI=ITPR3;FC=Missense_L2436V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2421,175,0:52:99:1.000 chr6 33660597 rs2229643 C T 386.66 PASS BaseQRankSum=-0.384;DP=42;Dels=0.00;FS=2.680;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.692;QD=9.21;ReadPosRankSum=-0.615;SB=-177.31;TI=NM_002224;GI=ITPR3;FC=Synonymous_I2517I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,17:42:99:417,0,603:56:99:0.405 chr6 34791027 rs7774697 A G 2394.36 PASS BaseQRankSum=1.338;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=1.014;QD=24.43;ReadPosRankSum=0.925;SB=-1432.59;TI=NM_017754;GI=UHRF1BP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,94:98:94.07:2427,94,0:52:94:0.959 chr6 34803947 rs4259246 C T 523.94 LowDP DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=29.11;SB=-121.30;TI=NM_017754;GI=UHRF1BP1;FC=Synonymous_A285A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,17:18:42.13:557,42,0:57:42:1.000 chr6 34824636 rs11755393 A G 3750.42 PASS DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5215;MQ=52;MQ0=0;QD=29.30;SB=-2153.98;TI=NM_017754;GI=UHRF1BP1;FC=Missense_Q454R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:128:99:3750,271,0:52:99:1.000 chr6 34825662 rs16894959 T C 1584.41 PASS BaseQRankSum=0.272;DP=119;Dels=0.00;FS=0.682;HRun=1;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=0.509;QD=13.31;ReadPosRankSum=-0.450;SB=-1002.17;TI=NM_017754;GI=UHRF1BP1;FC=Synonymous_L579L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,62:119:99:1614,0,1615:56:99:0.525 chr6 34827085 rs9469913 A T 1405.52 PASS DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=58;MQ0=0;QD=35.14;SB=-766.23;TI=NM_017754;GI=UHRF1BP1;FC=Missense_Q984H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:40:99:1439,108,0:58:99:1.000 chr6 34831866 rs3734264 G A 3851.98 PASS DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0466;MQ=54;MQ0=0;QD=27.51;SB=-2719.00;TI=NM_017754;GI=UHRF1BP1;FC=Synonymous_T1101T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,140:140:99:3852,277,0:54:99:1.000 chr6 34839644 rs34672415 G A 1731.65 PASS BaseQRankSum=0.657;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0192;MQ=52;MQ0=0;MQRankSum=2.899;QD=15.06;ReadPosRankSum=-0.044;SB=-1255.81;TI=NM_017754;GI=UHRF1BP1;FC=Missense_R1380K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,74:115:99:1762,0,788:52:99:0.643 chr6 34949607 rs2293242 C T 1607.40 PASS BaseQRankSum=-1.591;DP=156;Dels=0.00;FS=1.279;HRun=0;HaplotypeScore=5.9097;MQ=55;MQ0=0;MQRankSum=1.024;QD=10.30;ReadPosRankSum=1.664;SB=-1031.03;TI=NM_015245;GI=ANKS1A;FC=Synonymous_Y192Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,70:156:99:1637,0,1915:55:99:0.458 chr6 35027927 rs820085 T C 1556.13 PASS DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=28.82;SB=-1004.23;TI=NM_015245;GI=ANKS1A;FC=Missense_L694S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1589,117,0:53:99:1.000 chr6 35050506 rs2177382 G A 2521.56 PASS BaseQRankSum=1.512;DP=203;Dels=0.00;FS=1.760;HRun=1;HaplotypeScore=17.8667;MQ=54;MQ0=0;MQRankSum=2.501;QD=12.42;ReadPosRankSum=0.130;SB=-1457.97;TI=NM_015245;GI=ANKS1A;FC=Synonymous_P916P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,104:203:99:2552,0,2464:54:99:0.512 chr6 35391787 rs2076167 C T 1087.75 PASS BaseQRankSum=0.624;DP=88;Dels=0.00;FS=0.818;HRun=0;HaplotypeScore=5.6733;MQ=53;MQ0=0;MQRankSum=1.697;QD=12.36;ReadPosRankSum=-1.068;SB=-744.01;TI=NM_177435,NM_001171819,NM_001171820,NM_006238,NM_001171818;GI=PPARD,PPARD,PPARD,PPARD,PPARD;FC=Synonymous_N163N,Synonymous_N124N,Synonymous_N65N,Synonymous_N163N,Synonymous_N163N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,48:88:99:1118,0,876:53:99:0.545 chr6 35423662 rs4713867 A C 2592.23 PASS DP=92;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.2991;MQ=54;MQ0=0;QD=28.18;SB=-1301.57;TI=NM_021922;GI=FANCE;FC=Synonymous_P129P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2625,193,0:54:99:1.000 chr6 35423886 rs7761870 C T 2071.17 PASS BaseQRankSum=1.622;DP=194;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=55;MQ0=0;MQRankSum=2.765;QD=10.68;ReadPosRankSum=1.794;SB=-1385.21;TI=NM_021922;GI=FANCE;FC=Missense_S204L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,91:194:99:2101,0,2544:55:99:0.469 chr6 35430686 rs9462088 G A 1360.96 PASS BaseQRankSum=0.457;DP=83;Dels=0.00;FS=0.914;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=0.608;QD=16.40;ReadPosRankSum=-1.321;SB=-956.30;TI=NM_021922;GI=FANCE;FC=Missense_A502T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,59:83:99:1391,0,455:52:99:0.711 chr6 35467891 rs41270076 C T 2512.07 PASS BaseQRankSum=3.140;DP=206;Dels=0.00;FS=1.723;HRun=0;HaplotypeScore=6.4258;MQ=53;MQ0=0;MQRankSum=0.823;QD=12.19;ReadPosRankSum=0.251;SB=-2037.23;TI=NM_003322;GI=TULP1;FC=Synonymous_T454T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,119:206:99:2542,0,2071:53:99:0.578 chr6 35477025 rs2064318 C G 3228.29 PASS DP=119;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=11.2367;MQ=52;MQ0=0;QD=27.13;SB=-2217.61;TI=NM_003322;GI=TULP1;FC=Missense_K261N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,118:118:99:3261,235,0:52:99:1.000 chr6 35479574 rs7764472 G C 888.46 PASS DP=25;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.6520;MQ=60;MQ0=0;QD=35.54;SB=-40.65;TI=NM_003322;GI=TULP1;FC=Missense_T67R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:25:72.22:921,72,0:60:72:1.000 chr6 35765068 rs3748050 T C 2842.51 PASS BaseQRankSum=2.506;DP=273;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.7907;MQ=52;MQ0=0;MQRankSum=1.660;QD=10.41;ReadPosRankSum=1.836;SB=-2034.79;TI=NM_001832;GI=CLPS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:142,128:273:99:2873,0,3149:52:99:0.474 chr6 36260858 rs2239795 C T 2453.55 PASS DP=77;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=31.86;SB=-1302.92;TI=NM_173676,NM_001145716,NM_001145717;GI=PNPLA1,PNPLA1,PNPLA1;FC=Synonymous_F58F,Synonymous_F58F,Synonymous_F153F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2487,184,0:57:99:1.000 chr6 36275458 rs4713956 T C 991.26 PASS BaseQRankSum=-0.478;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.9406;MQ=56;MQ0=0;MQRankSum=1.014;QD=8.77;ReadPosRankSum=-2.571;SB=-605.54;TI=NM_173676,NM_001145716,NM_001145717;GI=PNPLA1,PNPLA1,PNPLA1;FC=Missense_S427P,Missense_S436P,Missense_S522P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,47:113:99:1021,0,1542:56:99:0.420 chr6 38670837 rs1049346 G A 561.03 PASS BaseQRankSum=0.011;DP=48;Dels=0.00;FS=1.174;HRun=0;HaplotypeScore=2.8937;MQ=59;MQ0=0;MQRankSum=0.423;QD=11.69;ReadPosRankSum=0.011;SB=-232.89;TI=NM_006708;GI=GLO1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,19:48:99:591,0,764:59:99:0.404 chr6 39033602 rs6918287 A G 2274.05 PASS DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=52;MQ0=0;QD=27.73;SB=-1555.79;TI=NM_002062;GI=GLP1R;FC=Synonymous_E133E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:82:99:2307,166,0:52:99:1.000 chr6 39325078 rs20455 A G 2144.74 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=25.53;SB=-1564.10;TI=NM_145027;GI=KIF6;FC=Missense_W719R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2178,156,0:51:99:1.000 chr6 39563863 rs7738892 C T 1185.62 PASS BaseQRankSum=-0.646;DP=179;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6464;MQ=52;MQ0=0;MQRankSum=-0.756;QD=6.62;ReadPosRankSum=1.005;SB=-663.89;TI=NM_145027;GI=KIF6;FC=Synonymous_K271K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,59:179:99:1216,0,3081:52:99:0.330 chr6 39874058 . C G 1043.58 PASS BaseQRankSum=0.269;DP=94;Dels=0.00;FS=2.831;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.343;QD=11.10;ReadPosRankSum=0.115;SB=-575.93;TI=NM_005943,NR_033233,NM_001075098;GI=MOCS1,MOCS1,MOCS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,39:94:99:1074,0,1414:55:99:0.415 chr6 42162388 rs3749921 A G 1230.17 PASS BaseQRankSum=-0.258;DP=104;Dels=0.00;FS=3.732;HRun=0;HaplotypeScore=5.7870;MQ=51;MQ0=0;MQRankSum=0.192;QD=11.83;ReadPosRankSum=0.401;SB=-546.18;TI=NM_002098;GI=GUCA1B;FC=Synonymous_Y57Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,48:104:99:1260,0,1300:51:99:0.462 chr6 42196127 rs11751765 C T 2797.92 PASS BaseQRankSum=1.380;DP=278;Dels=0.00;FS=4.100;HRun=1;HaplotypeScore=6.4598;MQ=53;MQ0=0;MQRankSum=2.004;QD=10.06;ReadPosRankSum=0.354;SB=-1523.79;TI=NM_033502;GI=TRERF1;FC=Missense_D1187N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:155,123:278:99:2828,0,3830:53:99:0.442 chr6 42666061 rs434102 T C 2492.61 PASS DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.70;SB=-1266.86;TI=NM_000322;GI=PRPH2;FC=Missense_D338G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2526,184,0:54:99:1.000 chr6 42666145 rs425876 C T 3071.39 PASS DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=26.71;SB=-2231.33;TI=NM_000322;GI=PRPH2;FC=Missense_R310K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3104,223,0:53:99:1.000 chr6 42666164 rs390659 G C 2938.22 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7474;MQ=53;MQ0=0;QD=27.72;SB=-1852.39;TI=NM_000322;GI=PRPH2;FC=Missense_Q304E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2971,214,0:53:99:1.000 chr6 42689755 rs7764439 A G 7590.74 PASS BaseQRankSum=1.419;DP=256;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4142;MQ=55;MQ0=0;MQRankSum=-1.405;QD=29.65;ReadPosRankSum=-0.521;SB=-4216.87;TI=NM_000322;GI=PRPH2;FC=Synonymous_V106V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,252:256:99:7591,476,0:55:99:0.984 chr6 42906384 rs9471969 G T 1368.83 PASS BaseQRankSum=-1.933;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7597;MQ=54;MQ0=0;MQRankSum=-0.508;QD=9.78;ReadPosRankSum=1.076;SB=-818.50;TI=NM_006586;GI=CNPY3;FC=Missense_S231I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,61:140:99:1399,0,1714:54:99:0.436 chr6 42932200 rs1129187 G T 1849.78 PASS BaseQRankSum=0.868;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6936;MQ=55;MQ0=0;MQRankSum=-1.026;QD=14.45;ReadPosRankSum=-1.654;SB=-778.50;TI=NM_000287;GI=PEX6;FC=Missense_P939Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,71:128:99:1880,0,1418:55:99:0.555 chr6 42932202 rs1129186 C T 1795.62 PASS BaseQRankSum=-0.635;DP=122;Dels=0.00;FS=1.575;HRun=1;HaplotypeScore=4.6936;MQ=55;MQ0=0;MQRankSum=-0.155;QD=14.72;ReadPosRankSum=-1.849;SB=-758.85;TI=NM_000287;GI=PEX6;FC=Synonymous_E938E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,69:122:99:1826,0,1377:55:99:0.566 chr6 42942779 rs9986447 A G 1387.25 PASS BaseQRankSum=1.744;DP=82;Dels=0.00;FS=0.961;HRun=0;HaplotypeScore=4.6759;MQ=56;MQ0=0;MQRankSum=0.252;QD=16.92;ReadPosRankSum=-0.670;SB=-447.49;TI=NM_000287;GI=PEX6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,50:82:99:1417,0,766:56:99:0.610 chr6 42946490 rs9462858 C A 916.44 PASS BaseQRankSum=1.801;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.8130;MQ=57;MQ0=0;MQRankSum=1.161;QD=13.68;ReadPosRankSum=2.567;SB=-329.63;TI=NM_000287;GI=PEX6;FC=Synonymous_V133V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,32:67:99:946,0,953:57:99:0.478 chr6 43005551 . C T 2351.03 PASS BaseQRankSum=-1.135;DP=218;Dels=0.00;FS=1.674;HRun=1;HaplotypeScore=9.1158;MQ=52;MQ0=0;MQRankSum=-1.150;QD=10.78;ReadPosRankSum=1.880;SB=-1549.46;TI=NM_014780,NM_001168370;GI=CUL7,CUL7;FC=Missense_E1658K,Missense_E1742K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,105:218:99:2381,0,2741:52:99:0.482 chr6 43014298 rs9394939 T C 3436.77 PASS DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=54;MQ0=0;QD=27.06;SB=-2397.12;TI=NM_014780,NM_001168370;GI=CUL7,CUL7;FC=Synonymous_Q813Q,Synonymous_Q897Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:127:99:3437,250,0:54:99:1.000 chr6 43014299 rs9381231 T C 3491.44 PASS DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=54;MQ0=0;QD=27.49;SB=-2380.68;TI=NM_014780,NM_001168370;GI=CUL7,CUL7;FC=Missense_Q813R,Missense_Q897R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:3491,250,0:54:99:1.000 chr6 43109751 rs6905948 G A 7215.38 PASS DP=256;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4576;MQ=52;MQ0=0;QD=28.19;SB=-4480.78;TI=NM_002821,NM_152881,NM_152882,NM_152880;GI=PTK7,PTK7,PTK7,PTK7;FC=Synonymous_G617G,Synonymous_G487G,Synonymous_G617G,Synonymous_G577G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,256:256:99:7215,527,0:52:99:1.000 chr6 44247951 rs484757 T G 6919.87 PASS DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.7497;MQ=56;MQ0=0;QD=30.89;SB=-3007.94;TI=NM_182539;GI=TCTE1;FC=Synonymous_I491I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,224:224:99:6920,509,0:56:99:1.000 chr6 44250165 rs516582 A G 2697.04 PASS BaseQRankSum=1.605;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=0.127;QD=32.89;ReadPosRankSum=-1.267;SB=-1362.04;TI=NM_182539;GI=TCTE1;FC=Synonymous_G326G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,81:82:99:2730,208,0:58:99:0.988 chr6 44253749 rs324143 A G 6459.60 PASS DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.2074;MQ=54;MQ0=0;QD=27.49;SB=-3872.59;TI=NM_182539;GI=TCTE1;FC=Synonymous_R266R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,235:235:99:6460,466,0:54:99:1.000 chr6 44255459 rs324146 G A 3662.19 PASS DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.53;SB=-2397.56;TI=NM_182539;GI=TCTE1;FC=Missense_P35L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,124:124:99:3662,265,0:55:99:1.000 chr6 44268371 rs325008 T C 3639.08 PASS DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6781;MQ=52;MQ0=0;QD=25.45;SB=-2644.48;TI=NM_020745;GI=AARS2;FC=Synonymous_S957S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:143:99:3639,259,0:52:99:1.000 chr6 44269193 rs498512 C T 4615.19 PASS DP=160;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=28.84;SB=-2643.91;TI=NM_020745;GI=AARS2;FC=Synonymous_K869K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,160:160:99:4615,331,0:54:99:1.000 chr6 44275011 rs324136 T C 5474.95 PASS DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1236;MQ=53;MQ0=0;QD=28.37;SB=-3707.84;TI=NM_020745;GI=AARS2;FC=Missense_I339V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,193:193:99:5475,400,0:53:99:1.000 chr6 45390511 rs6921145 G A 593.22 PASS BaseQRankSum=0.717;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7300;MQ=55;MQ0=0;MQRankSum=0.762;QD=12.90;ReadPosRankSum=1.081;SB=-366.68;TI=NM_001024630,NM_001015051,NM_004348;GI=RUNX2,RUNX2,RUNX2;FC=Synonymous_A80A,Synonymous_A80A,Synonymous_A66A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,24:46:99:623,0,593:55:99:0.533 chr6 46672943 rs1051931 A G 2234.39 PASS BaseQRankSum=-0.198;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.346;QD=31.92;ReadPosRankSum=-0.198;SB=-904.06;TI=NM_005084,NM_001168357;GI=PLA2G7,PLA2G7;FC=Missense_V379A,Missense_V379A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,69:70:99:2267,131,0:57:99:0.986 chr6 47563692 rs2039503 C T 5217.96 PASS BaseQRankSum=1.529;DP=171;Dels=0.00;FS=3.440;HRun=1;HaplotypeScore=3.8881;MQ=55;MQ0=0;MQRankSum=1.692;QD=30.51;ReadPosRankSum=1.712;SB=-2994.03;TI=NM_012120;GI=CD2AP;FC=Synonymous_L402L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,170:171:99:5218,354,0:55:99:0.994 chr6 50791584 rs71687472 CACAA C 2944.40 SB DP=51;FS=0.000;HRun=0;HaplotypeScore=191.5431;MQ=55;MQ0=0;QD=57.73;SB=-0.00;TI=NM_003221;GI=TFAP2B;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:6,44:51:99:2986,148,0:55:99:0.880 chr6 51483961 rs9381994 T C 1746.88 PASS BaseQRankSum=1.309;DP=146;Dels=0.00;FS=9.173;HRun=0;HaplotypeScore=7.0979;MQ=56;MQ0=0;MQRankSum=0.710;QD=11.96;ReadPosRankSum=0.816;SB=-1125.47;TI=NM_138694;GI=PKHD1;FC=Missense_Q4048R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,74:146:99:1777,0,2073:56:99:0.507 chr6 51491884 rs4715227 T C 923.53 PASS BaseQRankSum=0.817;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=2.414;QD=11.40;ReadPosRankSum=0.534;SB=-648.55;TI=NM_138694;GI=PKHD1;FC=Missense_Q3899R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,41:81:99:954,0,873:54:99:0.506 chr6 51524403 rs34460237 G A 3268.42 PASS BaseQRankSum=2.836;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.9574;MQ=57;MQ0=0;MQRankSum=3.813;QD=16.42;ReadPosRankSum=0.732;SB=-1820.91;TI=NM_138694;GI=PKHD1;FC=Synonymous_H3507H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,113:199:99:3268,0,2329:57:99:0.568 chr6 51732807 rs12210295 C T 5028.84 PASS DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=56;MQ0=0;QD=28.90;SB=-2940.59;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_G2529G,Synonymous_G2529G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,174:174:99:5029,364,0:56:99:1.000 chr6 51875250 rs2435322 A C 3228.29 PASS DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2464;MQ=54;MQ0=0;QD=29.89;SB=-1861.03;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Missense_L1870V,Missense_L1870V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:3261,241,0:54:99:1.000 chr6 51910905 rs62406032 T C 2043.66 PASS BaseQRankSum=1.765;DP=183;Dels=0.00;FS=1.868;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=1.058;QD=11.17;ReadPosRankSum=0.239;SB=-1317.84;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Missense_N830S,Missense_N830S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,89:183:99:2074,0,2154:52:99:0.489 chr6 51917968 rs4715271 T G 865.28 PASS BaseQRankSum=1.380;DP=85;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=8.0926;MQ=53;MQ0=0;MQRankSum=-1.371;QD=10.18;ReadPosRankSum=1.107;SB=-623.51;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_P682P,Synonymous_P682P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,39:85:99:895,0,1114:53:99:0.459 chr6 51921703 rs62406036 A G 1394.01 PASS BaseQRankSum=0.809;DP=86;Dels=0.00;FS=1.931;HRun=0;HaplotypeScore=5.4103;MQ=55;MQ0=0;MQRankSum=-0.478;QD=16.21;ReadPosRankSum=-1.514;SB=-694.07;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_N529N,Synonymous_N529N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,54:86:99:1424,0,824:55:99:0.628 chr6 51923409 rs4715272 A T 407.94 SB BaseQRankSum=0.686;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7876;MQ=60;MQ0=0;MQRankSum=0.312;QD=13.16;ReadPosRankSum=0.811;SB=-0.01;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,14:31:99:438,0,498:60:99:0.467 chr6 51924774 rs1896976 A G 4405.23 PASS DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5756;MQ=52;MQ0=0;QD=28.42;SB=-2855.35;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_D395D,Synonymous_D395D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4405,313,0:52:99:1.000 chr6 51930886 . TA T 178.28 R8 BaseQRankSum=1.297;DP=84;FS=10.450;HRun=14;HaplotypeScore=183.2827;MQ=56;MQ0=0;MQRankSum=0.691;QD=2.12;ReadPosRankSum=0.174;SB=-72.16;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,14:84:99:217,0,969:56:99:0.209 chr6 51947257 rs6901799 G A 3961.63 PASS BaseQRankSum=3.205;DP=353;Dels=0.00;FS=2.280;HRun=1;HaplotypeScore=22.8162;MQ=55;MQ0=0;MQRankSum=2.987;QD=11.22;ReadPosRankSum=2.928;SB=-2737.43;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_L72L,Synonymous_L72L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:182,171:353:99:3962,0,4342:55:99:0.484 chr6 52303399 rs9349626 A G 341.72 SB BaseQRankSum=1.248;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-0.066;QD=15.53;ReadPosRankSum=1.051;SB=-0.01;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,11:22:99:372,0,365:58:99:0.500 chr6 52318373 rs15598 T A 1161.62 PASS BaseQRankSum=-1.876;DP=79;Dels=0.00;FS=0.874;HRun=0;HaplotypeScore=5.3097;MQ=53;MQ0=0;MQRankSum=-0.441;QD=14.70;ReadPosRankSum=-0.550;SB=-606.65;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,45:79:99:1192,0,979:53:99:0.570 chr6 52318420 . CA C 130.47 R8 BaseQRankSum=-0.710;DP=67;FS=1.206;HRun=17;HaplotypeScore=321.3810;MQ=52;MQ0=0;MQRankSum=2.950;QD=1.95;ReadPosRankSum=-1.479;SB=-40.19;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,12:67:99:170,0,521:52:99:0.222 chr6 52357260 rs7757370 C A 8529.71 PASS DP=253;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=56;MQ0=0;QD=33.71;SB=-4391.24;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,253:253:99:8530,626,0:56:99:1.000 chr6 52358020 rs6926242 A T 5586.61 PASS DP=191;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=29.25;SB=-3036.55;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,190:191:99:5587,409,0:53:99:1.000 chr6 52358319 rs4455668 G A 1683.65 PASS DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=56;MQ0=0;QD=32.38;SB=-385.70;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:99:1717,132,0:56:99:1.000 chr6 52358453 rs35994917 C CA 953.96 R8 BaseQRankSum=2.840;DP=126;FS=2.980;HRun=11;HaplotypeScore=394.7030;MQ=55;MQ0=0;MQRankSum=1.051;QD=7.57;ReadPosRankSum=0.519;SB=-249.63;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,42:126:99:993,0,1331:55:99:0.389 chr6 52358619 . ATC A 5759.05 PASS BaseQRankSum=-13.623;DP=300;FS=0.878;HRun=0;HaplotypeScore=777.6441;MQ=53;MQ0=0;MQRankSum=1.618;QD=19.20;ReadPosRankSum=-3.052;SB=-2740.19;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:178,122:300:99:5759,0,7550:53:99:0.407 chr6 52358629 rs2397092 C A 4376.74 PASS BaseQRankSum=3.038;DP=317;Dels=0.00;FS=0.410;HRun=0;HaplotypeScore=253.8995;MQ=53;MQ0=0;MQRankSum=1.392;QD=13.81;ReadPosRankSum=3.271;SB=-2839.03;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:147,170:317:99:4377,0,3709:53:99:0.536 chr6 52358887 rs77236493 T TCA 13665.43 PASS DP=262;FS=0.000;HRun=0;HaplotypeScore=143.0414;MQ=58;MQ0=0;QD=52.16;SB=-6790.85;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:21,240:262:99:13665,783,0:58:99:0.920 chr6 52360111 rs9367485 C G 2496.60 PASS BaseQRankSum=0.406;DP=191;Dels=0.00;FS=0.536;HRun=0;HaplotypeScore=8.4672;MQ=57;MQ0=0;MQRankSum=0.351;QD=13.07;ReadPosRankSum=-1.716;SB=-1223.19;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,88:191:99:2527,0,2709:57:99:0.461 chr6 52360283 rs3789772 T A 2609.65 PASS BaseQRankSum=1.355;DP=232;Dels=0.00;FS=6.282;HRun=1;HaplotypeScore=7.1527;MQ=56;MQ0=0;MQRankSum=1.134;QD=11.25;ReadPosRankSum=1.378;SB=-1696.84;TI=NM_018100,NR_033327,NM_001172420;GI=EFHC1,EFHC1,EFHC1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,108:232:99:2640,0,3371:56:99:0.468 chr6 52360594 . C A 3.90 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=42;MQ0=0;MQRankSum=0.736;QD=1.30;ReadPosRankSum=0.736;SB=-0.01 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:31.62:32,0,54:42:4:0.333 chr6 52615415 rs6577 T G 718.63 PASS BaseQRankSum=-0.303;DP=101;Dels=0.00;FS=2.754;HRun=0;HaplotypeScore=3.6821;MQ=54;MQ0=0;MQRankSum=2.273;QD=7.12;ReadPosRankSum=0.988;SB=-481.20;TI=NM_000846;GI=GSTA2;FC=Missense_E210A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,35:101:99:749,0,1559:54:99:0.347 chr6 52617731 rs2180314 C G 2559.31 PASS BaseQRankSum=-0.659;DP=199;Dels=0.00;FS=1.122;HRun=0;HaplotypeScore=5.5735;MQ=57;MQ0=0;MQRankSum=0.097;QD=12.86;ReadPosRankSum=-0.006;SB=-1418.91;TI=NM_000846;GI=GSTA2;FC=Missense_S112T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,97:199:99:2589,0,2719:57:99:0.487 chr6 52878637 rs2297211 T C 1202.66 PASS BaseQRankSum=0.935;DP=106;Dels=0.00;FS=0.720;HRun=0;HaplotypeScore=2.6274;MQ=51;MQ0=0;MQRankSum=-1.403;QD=11.35;ReadPosRankSum=-2.129;SB=-798.60;TI=NM_014920,NM_016513;GI=ICK,ICK;FC=Synonymous_P325P,Synonymous_P325P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,53:106:99:1233,0,1235:51:99:0.500 chr6 54186147 rs1058768 T C 3543.69 PASS DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=27.90;SB=-2382.93;TI=NM_014464;GI=TINAG;FC=Missense_S158P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:3544,250,0:50:99:1.000 chr6 54212210 . C T 2967.19 PASS BaseQRankSum=2.812;DP=293;Dels=0.00;FS=0.911;HRun=0;HaplotypeScore=11.1854;MQ=53;MQ0=0;MQRankSum=2.654;QD=10.13;ReadPosRankSum=3.759;SB=-1658.70;TI=NM_014464;GI=TINAG;FC=Missense_T265M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:173,120:293:99:2997,0,4158:53:99:0.410 chr6 55142337 rs2653349 A G 5325.11 PASS DP=171;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=52;MQ0=0;QD=31.14;SB=-3078.23;TI=NM_001526;GI=HCRTR2;FC=Missense_I308V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,171:171:99:5325,400,0:52:99:1.000 chr6 55639028 rs41271330 G A 526.86 PASS BaseQRankSum=-1.838;DP=34;Dels=0.00;FS=1.713;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-1.977;QD=15.50;ReadPosRankSum=-1.249;SB=-97.53;TI=NM_021073;GI=BMP5;FC=Synonymous_N282N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,19:34:99:557,0,448:57:99:0.559 chr6 55739553 rs3734444 A G 2173.10 PASS BaseQRankSum=1.471;DP=145;Dels=0.00;FS=0.661;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=3.069;QD=14.99;ReadPosRankSum=-1.757;SB=-1058.34;TI=NM_021073;GI=BMP5;FC=Synonymous_S37S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,86:145:99:2203,0,1316:54:99:0.593 chr6 56327856 . C T 875.20 PASS BaseQRankSum=1.527;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8933;MQ=55;MQ0=0;MQRankSum=-1.597;QD=11.22;ReadPosRankSum=-2.994;SB=-392.20;TI=NM_015548;GI=DST;FC=Synonymous_V5039V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,35:78:99:905,0,1043:55:99:0.449 chr6 56417282 rs4715630 C T 8308.69 PASS BaseQRankSum=0.398;DP=283;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1162;MQ=56;MQ0=0;MQRankSum=1.585;QD=29.36;ReadPosRankSum=-0.361;SB=-5463.43;TI=NM_015548;GI=DST;FC=Missense_M2813I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,282:283:99:8309,571,0:56:99:0.996 chr6 56417545 rs4715631 T C 3211.45 PASS BaseQRankSum=1.029;DP=253;Dels=0.00;FS=5.078;HRun=0;HaplotypeScore=4.6583;MQ=56;MQ0=0;MQRankSum=0.881;QD=12.69;ReadPosRankSum=-2.044;SB=-2053.75;TI=NM_015548;GI=DST;FC=Missense_T2726A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:126,126:253:99:3241,0,3712:56:99:0.500 chr6 56420158 rs62621210 C T 693.40 SB BaseQRankSum=-0.284;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59;MQ0=0;MQRankSum=0.035;QD=20.39;ReadPosRankSum=0.319;SB=-0.01;TI=NM_015548;GI=DST;FC=Missense_V2418I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,21:34:99:723,0,388:59:99:0.618 chr6 56420538 rs11756977 C T 997.78 PASS BaseQRankSum=-0.356;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=59;MQ0=0;MQRankSum=0.452;QD=19.19;ReadPosRankSum=-1.510;SB=-207.37;TI=NM_015548;GI=DST;FC=Missense_R2291H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,34:52:99:1028,0,478:59:99:0.654 chr6 56422322 . AG A 846.55 PASS BaseQRankSum=3.207;DP=67;FS=4.806;HRun=1;HaplotypeScore=86.2563;MQ=58;MQ0=0;MQRankSum=1.061;QD=12.64;ReadPosRankSum=1.111;SB=-322.86;TI=NM_015548;GI=DST;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,22:67:99:886,0,1254:58:99:0.328 chr6 56426931 rs9367689 C T 942.29 PASS BaseQRankSum=0.446;DP=62;Dels=0.00;FS=2.232;HRun=1;HaplotypeScore=1.9996;MQ=52;MQ0=0;MQRankSum=-2.484;QD=15.20;ReadPosRankSum=-1.725;SB=-701.71;TI=NM_015548;GI=DST;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,41:62:99:972,0,503:52:99:0.661 chr6 56480500 . T C 2247.97 PASS BaseQRankSum=2.525;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5670;MQ=57;MQ0=0;MQRankSum=-0.358;QD=12.63;ReadPosRankSum=0.804;SB=-1219.67;TI=NM_015548,NM_001723;GI=DST,DST;FC=Silent,Missense_I2589V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,85:178:99:2278,0,2768:57:99:0.478 chr6 56481632 . T C 1257.58 PASS BaseQRankSum=0.180;DP=101;Dels=0.00;FS=8.003;HRun=1;HaplotypeScore=4.6818;MQ=54;MQ0=0;MQRankSum=-0.425;QD=12.45;ReadPosRankSum=0.880;SB=-546.01;TI=NM_015548,NM_001723;GI=DST,DST;FC=Silent,Synonymous_A2211A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,50:101:99:1288,0,1422:54:99:0.495 chr6 56482801 rs6459166 C G 938.05 PASS BaseQRankSum=1.623;DP=61;Dels=0.00;FS=5.221;HRun=0;HaplotypeScore=1.8835;MQ=57;MQ0=0;MQRankSum=0.065;QD=15.38;ReadPosRankSum=-0.325;SB=-92.15;TI=NM_015548,NM_001723;GI=DST,DST;FC=Silent,Missense_V2011L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,31:61:99:968,0,881:57:99:0.508 chr6 56484758 rs2230862 C T 2661.56 PASS BaseQRankSum=-0.821;DP=222;Dels=0.00;FS=1.705;HRun=2;HaplotypeScore=6.3643;MQ=53;MQ0=0;MQRankSum=3.461;QD=11.99;ReadPosRankSum=1.047;SB=-1186.32;TI=NM_015548,NM_001723;GI=DST,DST;FC=Silent,Synonymous_K1358K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,100:222:99:2692,0,3328:53:99:0.452 chr6 56494071 . A G 605.07 PASS BaseQRankSum=0.311;DP=41;Dels=0.00;FS=4.613;HRun=0;HaplotypeScore=2.6823;MQ=59;MQ0=0;MQRankSum=-0.690;QD=14.76;ReadPosRankSum=-0.528;SB=-444.81;TI=NM_015548,NM_001723;GI=DST,DST;FC=Synonymous_N947N,Synonymous_N947N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,26:41:99:635,0,432:59:99:0.634 chr6 56505063 rs2144407 A G 1024.30 PASS BaseQRankSum=2.974;DP=73;Dels=0.00;FS=7.803;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.314;QD=14.03;ReadPosRankSum=-1.307;SB=-551.04;TI=NM_015548,NM_001723;GI=DST,DST;FC=Synonymous_L253L,Synonymous_L253L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,36:73:99:1054,0,1045:57:99:0.493 chr6 56507489 rs1024196 A G 1673.31 PASS BaseQRankSum=2.176;DP=133;Dels=0.00;FS=1.371;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=-1.243;QD=12.58;ReadPosRankSum=-1.784;SB=-1142.00;TI=NM_015548,NM_001723;GI=DST,DST;FC=Missense_L33S,Missense_L33S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,71:133:99:1703,0,1416:51:99:0.534 chr6 57055354 rs1040461 C T 1001.00 PASS BaseQRankSum=0.798;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7722;MQ=54;MQ0=0;MQRankSum=1.369;QD=11.00;ReadPosRankSum=0.417;SB=-734.55;TI=NM_183227,NM_016277;GI=RAB23,RAB23;FC=Missense_G207S,Missense_G207S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,45:91:99:1031,0,1105:54:99:0.495 chr6 64498055 rs66462731 T A 1967.71 PASS BaseQRankSum=0.763;DP=156;Dels=0.00;FS=1.275;HRun=0;HaplotypeScore=6.2586;MQ=54;MQ0=0;MQRankSum=1.468;QD=12.61;ReadPosRankSum=-1.149;SB=-1181.46;TI=NM_001142800;GI=EYS;FC=Missense_S2556C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,75:156:99:1998,0,2099:54:99:0.481 chr6 65016977 rs35395170 TGA T 1229.26 R8 BaseQRankSum=1.266;DP=74;FS=2.261;HRun=0;HaplotypeScore=93.5198;MQ=53;MQ0=0;MQRankSum=0.130;QD=16.61;ReadPosRankSum=1.266;SB=-575.45;TI=NM_001142800;GI=EYS;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,30:74:99:1268,0,723:53:99:0.441 chr6 65149185 rs9353806 T A 1134.27 PASS BaseQRankSum=0.905;DP=98;Dels=0.00;FS=0.759;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=2.652;QD=11.57;ReadPosRankSum=-0.178;SB=-738.87;TI=NM_001142800;GI=EYS;FC=Missense_N1902I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,45:98:99:1164,0,1248:58:99:0.459 chr6 65300143 rs16895517 G C 1171.29 PASS BaseQRankSum=0.084;DP=74;Dels=0.00;FS=5.700;HRun=0;HaplotypeScore=7.3601;MQ=59;MQ0=0;MQRankSum=0.999;QD=15.83;ReadPosRankSum=0.530;SB=-406.86;TI=NM_001142800;GI=EYS;FC=Missense_L1873V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,42:74:99:1201,0,904:59:99:0.575 chr6 65301167 rs62415825 C T 2642.68 PASS BaseQRankSum=1.193;DP=198;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.9029;MQ=57;MQ0=0;MQRankSum=2.865;QD=13.35;ReadPosRankSum=2.659;SB=-1181.01;TI=NM_001142800;GI=EYS;FC=Synonymous_E1531E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,94:198:99:2673,0,3072:57:99:0.475 chr6 65301211 rs62415826 T C 2961.33 PASS BaseQRankSum=3.469;DP=209;Dels=0.00;FS=3.116;HRun=1;HaplotypeScore=18.2669;MQ=56;MQ0=0;MQRankSum=1.374;QD=14.17;ReadPosRankSum=-0.013;SB=-1699.20;TI=NM_001142800;GI=EYS;FC=Missense_S1517G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,104:209:99:2991,0,2951:56:99:0.498 chr6 65301217 rs62415827 G A 3087.78 PASS BaseQRankSum=3.563;DP=226;Dels=0.00;FS=4.620;HRun=0;HaplotypeScore=17.2736;MQ=55;MQ0=0;MQRankSum=2.106;QD=13.66;ReadPosRankSum=0.247;SB=-1767.20;TI=NM_001142800;GI=EYS;FC=Missense_R1515W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,110:226:99:3118,0,3194:55:99:0.487 chr6 65301408 rs62415828 A G 2190.24 PASS BaseQRankSum=2.600;DP=195;Dels=0.00;FS=1.183;HRun=0;HaplotypeScore=9.0362;MQ=54;MQ0=0;MQRankSum=1.711;QD=11.23;ReadPosRankSum=2.050;SB=-876.70;TI=NM_001142800;GI=EYS;FC=Missense_I1451T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,82:195:99:2220,0,3187:54:99:0.421 chr6 65301504 rs624851 A G 3465.78 PASS BaseQRankSum=1.630;DP=114;Dels=0.00;FS=6.221;HRun=0;HaplotypeScore=13.6020;MQ=56;MQ0=0;MQRankSum=-0.248;QD=30.40;ReadPosRankSum=-0.550;SB=-1982.64;TI=NM_001142800;GI=EYS;FC=Missense_L1419S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,112:114:99:3466,198,0:56:99:0.982 chr6 65301679 rs17403955 T C 774.81 PASS BaseQRankSum=-0.549;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8933;MQ=58;MQ0=0;MQRankSum=-0.594;QD=8.91;ReadPosRankSum=-1.942;SB=-374.80;TI=NM_001142800;GI=EYS;FC=Missense_I1361V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,30:87:99:805,0,1635:58:99:0.345 chr6 65301734 rs12663619 G A 829.77 PASS BaseQRankSum=1.662;DP=92;Dels=0.00;FS=0.898;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=-0.692;QD=9.02;ReadPosRankSum=0.441;SB=-361.31;TI=NM_001142800;GI=EYS;FC=Synonymous_S1342S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,34:92:99:860,0,1669:54:99:0.370 chr6 65301787 rs12663622 G C 645.64 PASS BaseQRankSum=0.912;DP=66;Dels=0.00;FS=1.030;HRun=0;HaplotypeScore=1.9995;MQ=56;MQ0=0;MQRankSum=1.581;QD=9.78;ReadPosRankSum=0.295;SB=-290.00;TI=NM_001142800;GI=EYS;FC=Missense_Q1325E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,26:66:99:676,0,1148:56:99:0.394 chr6 65301824 rs12662610 T C 331.03 PASS BaseQRankSum=1.050;DP=33;Dels=0.00;FS=5.596;HRun=0;HaplotypeScore=0.9159;MQ=59;MQ0=0;MQRankSum=0.239;QD=10.03;ReadPosRankSum=0.276;SB=-108.62;TI=NM_001142800;GI=EYS;FC=Synonymous_T1312T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,13:33:99:361,0,650:59:99:0.394 chr6 65301854 rs12663916 G A 305.35 PASS BaseQRankSum=0.591;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8936;MQ=60;MQ0=0;MQRankSum=-1.116;QD=13.88;ReadPosRankSum=-0.919;SB=-40.65;TI=NM_001142800;GI=EYS;FC=Synonymous_H1302H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,11:22:99:335,0,370:60:99:0.500 chr6 65303100 rs17404123 T C 1757.28 PASS BaseQRankSum=2.472;DP=126;Dels=0.00;FS=9.906;HRun=0;HaplotypeScore=8.9135;MQ=53;MQ0=0;MQRankSum=-3.394;QD=13.95;ReadPosRankSum=-3.813;SB=-1086.54;TI=NM_001142800;GI=EYS;FC=Missense_I1263V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,72:126:99:1787,0,1381:53:99:0.571 chr6 65622463 rs9294631 A G 6583.72 PASS BaseQRankSum=-0.895;DP=236;Dels=0.00;FS=3.125;HRun=2;HaplotypeScore=9.2483;MQ=53;MQ0=0;MQRankSum=-1.527;QD=27.90;ReadPosRankSum=-0.558;SB=-4399.11;TI=NM_001142800;GI=EYS;FC=Missense_L852P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,235:236:99:6584,438,0:53:99:0.996 chr6 66005857 rs17411795 T A 1455.10 PASS BaseQRankSum=0.456;DP=122;Dels=0.00;FS=0.689;HRun=0;HaplotypeScore=1.7882;MQ=48;MQ0=0;MQRankSum=-0.712;QD=11.93;ReadPosRankSum=0.430;SB=-920.74;TI=NM_001142800;GI=EYS;FC=Missense_E641V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,63:122:99:1485,0,1347:48:99:0.516 chr6 66063513 rs1936439 G A 5244.87 PASS DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=29.63;SB=-3042.30;TI=NM_001142800,NM_001142801,NM_198283;GI=EYS,EYS,EYS;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,177:177:99:5245,376,0:55:99:1.000 chr6 66112409 rs974110 A G 5189.32 PASS BaseQRankSum=1.712;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=55;MQ0=0;MQRankSum=1.712;QD=29.65;ReadPosRankSum=-0.604;SB=-3099.32;TI=NM_001142800,NM_001142801,NM_198283;GI=EYS,EYS,EYS;FC=Synonymous_N382N,Synonymous_N382N,Synonymous_N382N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,174:175:99:5189,373,0:55:99:0.994 chr6 70981794 rs16868869 A G 707.98 PASS BaseQRankSum=1.136;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7581;MQ=51;MQ0=0;MQRankSum=-1.059;QD=9.70;ReadPosRankSum=2.034;SB=-456.31;TI=NM_078485,NM_001851;GI=COL9A1,COL9A1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,33:73:99:738,0,928:51:99:0.452 chr6 72889472 rs2249021 A G 3173.08 PASS BaseQRankSum=0.524;DP=249;Dels=0.00;FS=2.822;HRun=0;HaplotypeScore=5.4920;MQ=53;MQ0=0;MQRankSum=-1.445;QD=12.74;ReadPosRankSum=-0.161;SB=-2110.64;TI=NM_014989;GI=RIMS1;FC=Synonymous_L222L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,132:249:99:3203,0,2798:53:99:0.530 chr6 72892257 rs2463730 A G 1676.53 PASS DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8857;MQ=56;MQ0=0;QD=28.42;SB=-785.56;TI=NM_014989;GI=RIMS1;FC=Synonymous_L361L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1710,123,0:56:99:1.000 chr6 72892383 . G A 358.19 LowDP BaseQRankSum=-0.099;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58;MQ0=0;MQRankSum=-0.296;QD=27.55;ReadPosRankSum=-0.099;SB=-140.28;TI=NM_014989;GI=RIMS1;FC=Synonymous_A403A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,11:13:41.53:388,0,42:58:42:0.846 chr6 73102442 rs79168210 C T 1592.08 PASS BaseQRankSum=2.225;DP=125;Dels=0.00;FS=4.428;HRun=2;HaplotypeScore=10.1430;MQ=56;MQ0=0;MQRankSum=0.521;QD=12.74;ReadPosRankSum=0.887;SB=-860.98;TI=NM_014989,NM_001168408,NM_001168407,NM_001168409,NM_001168410,NM_001168411;GI=RIMS1,RIMS1,RIMS1,RIMS1,RIMS1,RIMS1;FC=Synonymous_F1516F,Synonymous_F641F,Synonymous_F836F,Synonymous_F584F,Synonymous_F650F,Synonymous_F43F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,64:125:99:1622,0,1581:56:99:0.512 chr6 73102522 . AT A 1198.48 R8 BaseQRankSum=1.765;DP=106;FS=0.000;HRun=10;HaplotypeScore=132.2256;MQ=54;MQ0=0;MQRankSum=-0.467;QD=11.31;ReadPosRankSum=-1.182;SB=-567.73;TI=NM_014989,NM_001168408,NM_001168407,NM_001168409,NM_001168410,NM_001168411;GI=RIMS1,RIMS1,RIMS1,RIMS1,RIMS1,RIMS1;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,50:106:99:1238,0,1139:54:99:0.500 chr6 74189574 rs7766570 G A 2665.06 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=28.35;SB=-1627.17;TI=NM_001123226,NM_133645,NM_012123;GI=MTO1,MTO1,MTO1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2698,193,0:55:99:1.000 chr6 74190448 rs2036039 T C 1345.77 PASS BaseQRankSum=-1.707;DP=139;Dels=0.00;FS=4.171;HRun=2;HaplotypeScore=0.0000;MQ=48;MQ0=0;MQRankSum=1.061;QD=9.68;ReadPosRankSum=-1.167;SB=-690.85;TI=NM_001123226,NM_133645,NM_012123;GI=MTO1,MTO1,MTO1;FC=Synonymous_L394L,Synonymous_L419L,Synonymous_L394L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,60:139:99:1376,0,1802:48:99:0.432 chr6 74348142 rs3757112 T C 1275.89 PASS BaseQRankSum=2.115;DP=137;Dels=0.00;FS=0.646;HRun=0;HaplotypeScore=3.7603;MQ=52;MQ0=0;MQRankSum=1.496;QD=9.31;ReadPosRankSum=-0.155;SB=-961.41;TI=NM_012434;GI=SLC17A5;FC=Synonymous_S202S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,58:137:99:1306,0,1738:52:99:0.423 chr6 74466377 rs6453696 C T 828.88 PASS BaseQRankSum=0.914;DP=86;Dels=0.00;FS=4.247;HRun=1;HaplotypeScore=3.5764;MQ=53;MQ0=0;MQRankSum=0.517;QD=9.64;ReadPosRankSum=0.587;SB=-395.40;TI=NM_001159588,NM_001159587,NM_133493;GI=CD109,CD109,CD109;FC=Synonymous_Y138Y,Synonymous_Y215Y,Synonymous_Y215Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,34:86:99:859,0,1379:53:99:0.395 chr6 74493432 rs10455097 A C 793.15 PASS BaseQRankSum=-1.888;DP=62;Dels=0.00;FS=3.524;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=0.912;QD=12.79;ReadPosRankSum=-0.728;SB=-500.35;TI=NM_001159588,NM_001159587,NM_133493;GI=CD109,CD109,CD109;FC=Missense_Y626S,Missense_Y703S,Missense_Y703S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,34:62:99:823,0,649:54:99:0.548 chr6 74497009 rs2351528 A G 1604.28 PASS BaseQRankSum=1.832;DP=144;Dels=0.00;FS=0.616;HRun=0;HaplotypeScore=8.0468;MQ=54;MQ0=0;MQRankSum=1.644;QD=11.14;ReadPosRankSum=0.884;SB=-1151.39;TI=NM_001159588,NM_001159587,NM_133493;GI=CD109,CD109,CD109;FC=Missense_N720S,Missense_N797S,Missense_N797S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,69:144:99:1634,0,1864:54:99:0.479 chr6 74497152 rs5023688 G A 698.99 PASS BaseQRankSum=1.935;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=58;MQ0=0;MQRankSum=1.533;QD=10.75;ReadPosRankSum=0.998;SB=-344.12;TI=NM_001159588,NM_001159587,NM_133493;GI=CD109,CD109,CD109;FC=Missense_V768I,Missense_V845I,Missense_V845I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,26:65:99:729,0,1071:58:99:0.400 chr6 74521947 rs2917862 C T 1829.29 PASS BaseQRankSum=1.638;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5758;MQ=55;MQ0=0;MQRankSum=-0.300;QD=16.05;ReadPosRankSum=-0.818;SB=-870.85;TI=NM_001159588,NM_001159587,NM_133493;GI=CD109,CD109,CD109;FC=Missense_T1164M,Missense_T1224M,Missense_T1241M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,70:114:99:1859,0,1091:55:99:0.614 chr6 74533192 rs2917887 T G 3745.82 PASS DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2206;MQ=54;MQ0=0;QD=31.22;SB=-2137.51;TI=NM_001159588,NM_001159587,NM_133493;GI=CD109,CD109,CD109;FC=Synonymous_A1314A,Synonymous_A1374A,Synonymous_A1391A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,119:120:99:3746,274,0:54:99:1.000 chr6 75797302 rs970547 C T 3442.82 PASS DP=129;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8646;MQ=53;MQ0=0;QD=26.69;SB=-2464.18;TI=NM_004370,NM_080645;GI=COL12A1,COL12A1;FC=Missense_G3058S,Missense_G1894S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3443,244,0:53:99:1.000 chr6 75841722 rs594012 A T 3330.96 PASS DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=49;MQ0=0;QD=27.30;SB=-2307.44;TI=NM_004370,NM_080645;GI=COL12A1,COL12A1;FC=Synonymous_A1957A,Synonymous_A793A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3331,238,0:49:99:1.000 chr6 75890933 . TA TAA,T 367.65 PASS BaseQRankSum=0.727;DP=44;FS=0.000;HaplotypeScore=61.4902;MQ=56;MQ0=0;MQRankSum=1.471;QD=8.36;ReadPosRankSum=1.302;SB=-137.95;TI=NM_004370,NM_080645;GI=COL12A1,COL12A1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:13,1,11:44:99:446,185,405,205,0,458:56:99:0.480 chr6 75950109 . TA TAA,T 234.14 PASS BaseQRankSum=0.071;DP=41;FS=4.599;HaplotypeScore=198.6947;MQ=43;MQ0=0;MQRankSum=-0.071;QD=5.71;ReadPosRankSum=0.118;SB=-140.50;TI=NM_001865,NR_029466;GI=COX7A2,COX7A2;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:12,2,9:41:99:312,190,371,122,0,269:43:99:0.478 chr6 78171941 rs6297 C T 3914.71 PASS DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=56;MQ0=0;QD=28.16;SB=-2361.08 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,139:139:99:3915,283,0:56:99:1.000 chr6 78172260 rs6296 C G 2652.30 PASS BaseQRankSum=1.870;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2804;MQ=56;MQ0=0;MQRankSum=2.330;QD=15.51;ReadPosRankSum=0.872;SB=-1421.55;TI=NM_000863;GI=HTR1B;FC=Synonymous_V287V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,97:171:99:2682,0,1834:56:99:0.571 chr6 78172992 rs6298 G A 1618.77 PASS BaseQRankSum=0.272;DP=145;Dels=0.00;FS=0.624;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=2.524;QD=11.16;ReadPosRankSum=0.379;SB=-1013.58;TI=NM_000863;GI=HTR1B;FC=Synonymous_S43S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,67:145:99:1649,0,2029:56:99:0.462 chr6 79657391 rs1984195 G A 3554.77 PASS BaseQRankSum=-0.437;DP=307;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.1421;MQ=53;MQ0=0;MQRankSum=-0.672;QD=11.58;ReadPosRankSum=0.830;SB=-2378.45;TI=NM_017934;GI=PHIP;FC=Synonymous_V1385V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:153,151:307:99:3555,0,3641:53:99:0.497 chr6 79679577 rs7742431 A G 1765.78 PASS BaseQRankSum=1.909;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.828;QD=16.35;ReadPosRankSum=-0.130;SB=-588.92;TI=NM_017934;GI=PHIP;FC=Synonymous_D1060D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,61:108:99:1796,0,1349:55:99:0.565 chr6 79692751 rs11547228 G A 1365.92 PASS BaseQRankSum=0.946;DP=86;Dels=0.00;FS=0.918;HRun=0;HaplotypeScore=1.8835;MQ=56;MQ0=0;MQRankSum=0.121;QD=15.88;ReadPosRankSum=0.468;SB=-398.12;TI=NM_017934;GI=PHIP;FC=Missense_T874I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,47:86:99:1396,0,959:56:99:0.547 chr6 79708000 rs7747479 A C 2619.44 PASS DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=25.68;SB=-1959.66;TI=NM_017934;GI=PHIP;FC=Missense_V663G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:102:99:2652,187,0:50:99:1.000 chr6 80228541 rs2655655 A G 3227.04 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5757;MQ=53;MQ0=0;QD=28.56;SB=-2152.81;TI=NM_181714,NM_001122769;GI=LCA5,LCA5;FC=Missense_L24S,Missense_L24S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3260,235,0:53:99:1.000 chr6 80626375 rs3812153 T C 1436.52 PASS BaseQRankSum=0.153;DP=89;Dels=0.00;FS=3.068;HRun=0;HaplotypeScore=0.8667;MQ=59;MQ0=0;MQRankSum=0.343;QD=16.14;ReadPosRankSum=0.781;SB=-477.88;TI=NM_022726;GI=ELOVL4;FC=Missense_M299V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,50:89:99:1467,0,1033:59:99:0.562 chr6 86199233 rs2229523 A G 4232.82 PASS DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=55;MQ0=0;QD=29.39;SB=-2671.25;TI=NM_002526;GI=NT5E;FC=Missense_T376A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,144:144:99:4233,304,0:55:99:1.000 chr6 86387031 . TAA T 2314.59 PASS BaseQRankSum=-0.882;DP=108;FS=0.719;HRun=4;HaplotypeScore=266.2336;MQ=52;MQ0=0;MQRankSum=-1.910;QD=21.43;ReadPosRankSum=-0.452;SB=-1164.11;TI=NR_003038,NR_002743;GI=SNHG5,SNORD50A;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,53:108:99:2354,0,2375:52:99:0.495 chr6 87796233 rs2011192 G A 2035.40 PASS BaseQRankSum=-0.209;DP=160;Dels=0.00;FS=3.101;HRun=0;HaplotypeScore=5.4427;MQ=57;MQ0=0;MQRankSum=0.854;QD=12.72;ReadPosRankSum=-1.020;SB=-970.54;TI=NM_000735;GI=CGA;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,84:160:99:2065,0,2094:57:99:0.528 chr6 89981413 rs282117 T C 2014.48 PASS BaseQRankSum=0.311;DP=189;Dels=0.00;FS=3.326;HRun=0;HaplotypeScore=1.7608;MQ=51;MQ0=0;MQRankSum=1.729;QD=10.66;ReadPosRankSum=3.922;SB=-1312.40;TI=NM_002043;GI=GABRR2;FC=Synonymous_V108V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,93:189:99:2044,0,2096:51:99:0.495 chr6 90362783 rs4707557 A C 2940.46 PASS BaseQRankSum=2.394;DP=250;Dels=0.00;FS=0.979;HRun=1;HaplotypeScore=9.8850;MQ=55;MQ0=0;MQRankSum=1.155;QD=11.76;ReadPosRankSum=0.098;SB=-1941.44;TI=NM_014611;GI=MDN1;FC=Missense_N5251K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,121:250:99:2970,0,3052:55:99:0.484 chr6 90371202 rs9444701 G A 2211.33 PASS DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.99;SB=-1361.83;TI=NM_014611;GI=MDN1;FC=Synonymous_L4887L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2244,160,0:52:99:1.000 chr6 90371215 . T C 876.75 PASS BaseQRankSum=3.965;DP=80;Dels=0.00;FS=0.848;HRun=1;HaplotypeScore=1.8937;MQ=52;MQ0=0;MQRankSum=0.882;QD=10.96;ReadPosRankSum=0.294;SB=-582.27;TI=NM_014611;GI=MDN1;FC=Missense_D4883G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,38:80:99:907,0,1018:52:99:0.475 chr6 90390443 rs9353689 C A 5990.32 PASS BaseQRankSum=0.443;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6791;MQ=55;MQ0=0;MQRankSum=-0.454;QD=28.66;ReadPosRankSum=-0.891;SB=-3582.06;TI=NM_014611;GI=MDN1;FC=Missense_A4044S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,206:209:99:5990,395,0:55:99:0.990 chr6 90402482 rs9294445 G A 4489.52 PASS DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=55;MQ0=0;QD=32.53;SB=-1984.47;TI=NM_014611;GI=MDN1;FC=Missense_H3423Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:138:99:4490,331,0:55:99:1.000 chr6 90402840 rs9351212 C G 3924.52 PASS DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=30.90;SB=-2047.69;TI=NM_014611;GI=MDN1;FC=Synonymous_L3303L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:3925,289,0:56:99:1.000 chr6 90408742 rs12530146 C T 2113.60 PASS BaseQRankSum=2.807;DP=168;Dels=0.01;FS=0.573;HRun=3;HaplotypeScore=18.1790;MQ=56;MQ0=0;MQRankSum=1.039;QD=12.58;ReadPosRankSum=0.764;SB=-1432.61;TI=NM_014611;GI=MDN1;FC=Missense_E3004K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,86:167:99:2144,0,1907:56:99:0.518 chr6 90418262 rs2026634 C T 2145.53 PASS DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=28.99;SB=-1355.96;TI=NM_014611;GI=MDN1;FC=Synonymous_T2617T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:74:99:2179,157,0:52:99:1.000 chr6 90448092 rs4140446 C T 3124.52 PASS DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3074;MQ=58;MQ0=0;QD=32.89;SB=-869.92;TI=NM_014611;GI=MDN1;FC=Missense_S1559N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:3158,235,0:58:99:1.000 chr6 90455084 rs9359861 A G 3290.65 PASS DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1737;MQ=53;MQ0=0;QD=29.92;SB=-1507.71;TI=NM_014611;GI=MDN1;FC=Synonymous_H1362H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:3291,244,0:53:99:1.000 chr6 90459454 rs4053618 G A 2076.40 PASS DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=57;MQ0=0;QD=29.25;SB=-1343.49;TI=NM_014611;GI=MDN1;FC=Synonymous_A1141A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:2109,154,0:57:99:1.000 chr6 93967851 rs345730 C T 2073.36 PASS BaseQRankSum=0.810;DP=156;Dels=0.00;FS=2.926;HRun=2;HaplotypeScore=7.3299;MQ=55;MQ0=0;MQRankSum=0.557;QD=13.29;ReadPosRankSum=0.260;SB=-1059.54;TI=NM_004440;GI=EPHA7;FC=Synonymous_P692P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,87:156:99:2103,0,1515:55:99:0.558 chr6 93982124 rs345713 A G 1274.55 PASS BaseQRankSum=1.692;DP=108;Dels=0.00;FS=1.578;HRun=0;HaplotypeScore=5.6816;MQ=55;MQ0=0;MQRankSum=0.781;QD=11.80;ReadPosRankSum=-1.735;SB=-952.14;TI=NM_004440;GI=EPHA7;FC=Synonymous_S447S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,61:108:99:1305,0,1115:55:99:0.565 chr6 94067981 rs164544 C T 674.75 PASS BaseQRankSum=0.439;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.799;QD=14.67;ReadPosRankSum=1.317;SB=-311.25;TI=NM_004440;GI=EPHA7;FC=Synonymous_A327A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,28:46:99:705,0,416:57:99:0.609 chr6 97339088 rs11402 C T 2004.97 PASS DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.85;SB=-1122.56;TI=NM_014165;GI=NDUFAF4;FC=Synonymous_Q140Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:2038,147,0:52:99:1.000 chr6 97339275 . C CA 544.78 R8 BaseQRankSum=-1.231;DP=34;FS=0.000;HRun=10;HaplotypeScore=49.3423;MQ=60;MQ0=0;MQRankSum=0.866;QD=16.02;ReadPosRankSum=-2.006;SB=-96.12;TI=NM_014165;GI=NDUFAF4;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,24:34:72.10:584,0,72:60:72:0.750 chr6 100964147 rs240780 G C 1678.72 PASS DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.52;SB=-1120.68;TI=NM_006828;GI=ASCC3;FC=Missense_S1995C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1712,123,0:53:99:1.000 chr6 101166095 rs41288423 G A 1672.34 PASS BaseQRankSum=0.395;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=0.456;QD=29.34;ReadPosRankSum=0.760;SB=-750.85;TI=NM_006828;GI=ASCC3;FC=Synonymous_L645L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,56:57:91.78:1705,92,0:54:92:0.982 chr6 101215223 rs11345864 TA T 2648.09 R8 BaseQRankSum=-1.501;DP=94;FS=0.000;HRun=10;HaplotypeScore=448.6854;MQ=50;MQ0=0;MQRankSum=-1.116;QD=28.17;ReadPosRankSum=0.346;SB=-1015.23;TI=NM_006828;GI=ASCC3;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,88:94:99:2690,241,0:50:99:0.957 chr6 101312097 rs846791 C T 6754.85 PASS DP=241;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3382;MQ=56;MQ0=0;QD=28.03;SB=-3870.20;TI=NM_006828,NM_022091;GI=ASCC3,ASCC3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,241:241:99:6755,485,0:56:99:1.000 chr6 102376517 rs2243355 G A 2367.45 PASS BaseQRankSum=-0.483;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8731;MQ=57;MQ0=0;MQRankSum=-1.370;QD=27.53;ReadPosRankSum=-0.806;SB=-1138.54;TI=NM_175768,NM_001166247,NM_021956;GI=GRIK2,GRIK2,GRIK2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,85:86:99:2400,140,0:57:99:0.988 chr6 105244526 rs6918700 A T 1500.65 PASS BaseQRankSum=0.599;DP=107;Dels=0.00;FS=0.729;HRun=1;HaplotypeScore=2.7041;MQ=55;MQ0=0;MQRankSum=0.618;QD=14.02;ReadPosRankSum=0.637;SB=-941.92;TI=NM_020771;GI=HACE1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,60:107:99:1531,0,1024:55:99:0.561 chr6 105300250 rs9499992 A G 925.37 PASS BaseQRankSum=-0.405;DP=77;Dels=0.00;FS=0.858;HRun=1;HaplotypeScore=1.7608;MQ=59;MQ0=0;MQRankSum=-0.559;QD=12.02;ReadPosRankSum=-0.621;SB=-683.52;TI=NM_020771;GI=HACE1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,43:77:99:955,0,893:59:99:0.558 chr6 105307435 rs2499655 G A 534.30 PASS BaseQRankSum=1.010;DP=44;Dels=0.00;FS=2.614;HRun=0;HaplotypeScore=0.8667;MQ=51;MQ0=0;MQRankSum=-0.188;QD=12.14;ReadPosRankSum=2.585;SB=-230.81;TI=NM_020771;GI=HACE1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,21:44:99:564,0,571:51:99:0.477 chr6 107955437 . G C 13.31 SB BaseQRankSum=-2.605;DP=56;Dels=0.00;FS=8.255;HRun=6;HaplotypeScore=58.9702;MQ=48;MQ0=0;MQRankSum=-0.149;QD=0.24;ReadPosRankSum=-0.604;SB=-0.01;TI=NM_018013;GI=SOBP;FC=Synonymous_P463P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,13:56:43.10:43,0,969:48:13:0.236 chr6 107956095 rs9486659 A G 386.87 LowDP DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=25.79;SB=-201.32;TI=NM_018013;GI=SOBP;FC=Missense_S683G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,15:15:30.10:420,30,0:50:30:1.000 chr6 108197874 . C A 119.87 SB BaseQRankSum=0.722;DP=38;Dels=0.08;FS=28.843;HRun=19;HaplotypeScore=26.5813;MQ=47;MQ0=0;MQRankSum=-0.845;QD=3.15;ReadPosRankSum=-1.588;SB=-0.01;TI=NM_007214;GI=SEC63;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,7:35:99:150,0,678:47:99:0.200 chr6 108197874 . CA C 5.53 LowGQX;LowVariantFreq;R8 BaseQRankSum=-0.775;DP=38;FS=0.000;HRun=19;HaplotypeScore=190.3571;MQ=47;MQ0=0;MQRankSum=1.833;QD=0.15;ReadPosRankSum=-0.094;SB=-15.45;TI=NM_007214;GI=SEC63;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,5:38:43.13:43,0,217:47:6:0.156 chr6 108222727 . T TA 52.47 LowVariantFreq;R8 BaseQRankSum=1.438;DP=73;FS=2.105;HRun=12;HaplotypeScore=110.1920;MQ=55;MQ0=0;MQRankSum=1.738;QD=0.72;ReadPosRankSum=-0.113;SB=-39.16;TI=NM_007214;GI=SEC63;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,10:73:91.50:92,0,1083:55:52:0.169 chr6 108233929 rs675117 G A 2748.55 PASS DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=54;MQ0=0;QD=26.68;SB=-2017.04;TI=NM_007214;GI=SEC63;FC=Synonymous_N188N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,103:103:99:2782,199,0:54:99:1.000 chr6 111695073 rs455645 C T 5919.59 PASS DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=56;MQ0=0;QD=33.83;SB=-3456.71;TI=NM_002912;GI=REV3L;FC=Synonymous_S1495S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,175:175:99:5920,433,0:56:99:1.000 chr6 111695268 rs455732 C T 5687.02 PASS DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=57;MQ0=0;QD=35.32;SB=-3081.09;TI=NM_002912;GI=REV3L;FC=Synonymous_V1430V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,161:161:99:5687,424,0:57:99:1.000 chr6 111695887 rs462779 G A 5398.95 PASS DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=31.95;SB=-3277.66;TI=NM_002912;GI=REV3L;FC=Missense_T1224I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,169:169:99:5399,397,0:58:99:1.000 chr6 111696257 rs461646 G A 3106.65 PASS DP=94;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=9.3234;MQ=54;MQ0=0;QD=33.05;SB=-1642.05;TI=NM_002912;GI=REV3L;FC=Synonymous_L1101L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:93:99:3140,232,0:54:99:1.000 chr6 111696852 rs458486 T C 4475.42 PASS DP=151;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9983;MQ=55;MQ0=0;QD=29.64;SB=-2387.58;TI=NM_002912;GI=REV3L;FC=Synonymous_G902G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,151:151:99:4475,325,0:55:99:1.000 chr6 111901453 rs1043730 G T 4912.69 PASS DP=173;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6443;MQ=54;MQ0=0;QD=28.40;SB=-3341.83;TI=NR_034108,NR_034109,NR_028338,NM_147686,NM_001164281;GI=LOC643749,LOC643749,TRAF3IP2,TRAF3IP2,TRAF3IP2;FC=Silent,Silent,Silent,Missense_H323Q,Missense_H323Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,173:173:99:4913,352,0:54:99:1.000 chr6 112382313 rs1230345 G T 1613.84 PASS BaseQRankSum=-2.364;DP=146;Dels=0.00;FS=2.087;HRun=0;HaplotypeScore=2.6548;MQ=55;MQ0=0;MQRankSum=0.351;QD=11.05;ReadPosRankSum=0.648;SB=-950.31;TI=NM_003880,NM_198239;GI=WISP3,WISP3;FC=Missense_Q56H,Missense_Q74H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,70:146:99:1644,0,1759:55:99:0.479 chr6 112435273 rs3734289 A C 2658.74 PASS BaseQRankSum=1.145;DP=237;Dels=0.00;FS=1.593;HRun=1;HaplotypeScore=6.4700;MQ=55;MQ0=0;MQRankSum=0.913;QD=11.22;ReadPosRankSum=1.595;SB=-1591.86;TI=NM_001105207,NM_001105206,NM_002290;GI=LAMA4,LAMA4,LAMA4;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:127,110:237:99:2689,0,3090:55:99:0.464 chr6 112435912 rs1050353 A T 1145.34 PASS BaseQRankSum=-0.573;DP=116;Dels=0.00;FS=2.433;HRun=1;HaplotypeScore=3.8799;MQ=50;MQ0=0;MQRankSum=1.763;QD=9.87;ReadPosRankSum=-0.350;SB=-675.07;TI=NM_001105207,NM_001105206,NM_002290;GI=LAMA4,LAMA4,LAMA4;FC=Synonymous_V1713V,Synonymous_V1720V,Synonymous_V1713V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,51:116:99:1175,0,1524:50:99:0.440 chr6 112457383 rs1050349 G C 1393.46 PASS BaseQRankSum=2.483;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7595;MQ=55;MQ0=0;MQRankSum=1.143;QD=9.61;ReadPosRankSum=0.810;SB=-864.81;TI=NM_001105207,NM_001105206,NM_002290;GI=LAMA4,LAMA4,LAMA4;FC=Missense_P1112R,Missense_P1119R,Missense_P1112R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,56:145:99:1423,0,2355:55:99:0.386 chr6 112457390 rs2032567 C T 1279.07 PASS BaseQRankSum=0.557;DP=147;Dels=0.00;FS=0.643;HRun=0;HaplotypeScore=3.7595;MQ=55;MQ0=0;MQRankSum=1.187;QD=8.70;ReadPosRankSum=1.332;SB=-779.05;TI=NM_001105207,NM_001105206,NM_002290;GI=LAMA4,LAMA4,LAMA4;FC=Missense_G1110S,Missense_G1117S,Missense_G1110S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,54:147:99:1309,0,2455:55:99:0.367 chr6 112493872 rs1050348 A G 795.95 PASS BaseQRankSum=1.806;DP=104;Dels=0.00;FS=0.777;HRun=1;HaplotypeScore=0.9947;MQ=54;MQ0=0;MQRankSum=1.962;QD=7.65;ReadPosRankSum=1.073;SB=-517.89;TI=NM_001105207,NM_001105206,NM_002290;GI=LAMA4,LAMA4,LAMA4;FC=Missense_Y491H,Missense_Y498H,Missense_Y491H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,37:104:99:826,0,1481:54:99:0.356 chr6 112508769 rs9387061 T G 1837.25 PASS DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=56;MQ0=0;QD=27.84;SB=-1253.06;TI=NM_001105207,NM_001105206,NM_002290;GI=LAMA4,LAMA4,LAMA4;FC=Synonymous_A276A,Synonymous_A283A,Synonymous_A276A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:66:99:1870,135,0:56:99:1.000 chr6 112508770 rs9400522 G T 1872.44 PASS DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=56;MQ0=0;QD=28.37;SB=-1251.54;TI=NM_001105207,NM_001105206,NM_002290;GI=LAMA4,LAMA4,LAMA4;FC=Missense_A276E,Missense_A283E,Missense_A276E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:66:99:1905,138,0:56:99:1.000 chr6 112512905 rs2072021 G A 358.52 PASS BaseQRankSum=1.353;DP=34;Dels=0.00;FS=1.456;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=1.769;QD=10.54;ReadPosRankSum=-0.936;SB=-128.20;TI=NM_001105207,NM_001105206,NM_002290;GI=LAMA4,LAMA4,LAMA4;FC=Synonymous_T217T,Synonymous_T217T,Synonymous_T217T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,15:34:99:389,0,478:54:99:0.441 chr6 116264354 rs550480 C A 1215.51 PASS BaseQRankSum=1.173;DP=95;Dels=0.00;FS=4.291;HRun=1;HaplotypeScore=13.3135;MQ=55;MQ0=0;MQRankSum=1.084;QD=12.79;ReadPosRankSum=-1.471;SB=-572.47;TI=NM_002031;GI=FRK;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,46:95:99:1246,0,1368:55:99:0.484 chr6 116325142 rs3756772 C T 906.52 PASS BaseQRankSum=1.057;DP=80;Dels=0.00;FS=0.871;HRun=0;HaplotypeScore=2.6274;MQ=55;MQ0=0;MQRankSum=0.252;QD=11.33;ReadPosRankSum=-0.417;SB=-471.76;TI=NM_002031;GI=FRK;FC=Missense_G122R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,35:80:99:937,0,1220:55:99:0.438 chr6 116441229 . T TGGG 793.91 SB;LowDP DP=14;FS=0.000;HRun=1;HaplotypeScore=15.2745;MQ=54;MQ0=0;QD=56.71;SB=-0.00;TI=NM_152729,NM_000493;GI=NT5DC1,COL10A1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,13:14:42.12:836,42,0:54:42:0.929 chr6 116446576 rs1064583 A G 1462.17 PASS BaseQRankSum=0.900;DP=154;Dels=0.00;FS=0.607;HRun=0;HaplotypeScore=1.8835;MQ=53;MQ0=0;MQRankSum=2.469;QD=9.49;ReadPosRankSum=1.274;SB=-1006.15;TI=NM_152729,NM_000493;GI=NT5DC1,COL10A1;FC=Silent,Missense_M27T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,64:154:99:1492,0,2040:53:99:0.416 chr6 116600465 rs78371471 T TCAC 5481.33 PASS BaseQRankSum=-2.471;DP=244;FS=0.000;HRun=0;HaplotypeScore=234.1434;MQ=54;MQ0=0;MQRankSum=1.582;QD=22.46;ReadPosRankSum=-1.322;SB=-2696.62;TI=NM_003309;GI=TSPYL1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:133,110:244:99:5481,0,4837:54:99:0.453 chr6 116600774 rs3749895 C G 599.50 PASS BaseQRankSum=1.863;DP=43;Dels=0.00;FS=1.478;HRun=2;HaplotypeScore=2.8317;MQ=57;MQ0=0;MQRankSum=0.548;QD=13.94;ReadPosRankSum=1.571;SB=-164.20;TI=NM_003309;GI=TSPYL1;FC=Missense_A74P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,20:43:99:629,0,667:57:99:0.465 chr6 116600810 rs3828743 G A 734.16 PASS BaseQRankSum=0.958;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6986;MQ=58;MQ0=0;MQRankSum=-0.219;QD=18.35;ReadPosRankSum=-1.122;SB=-174.82;TI=NM_003309;GI=TSPYL1;FC=Missense_P62S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,23:40:99:764,0,436:58:99:0.575 chr6 116950833 rs784133 T C 746.83 PASS BaseQRankSum=-0.129;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8857;MQ=57;MQ0=0;MQRankSum=1.282;QD=10.67;ReadPosRankSum=-0.777;SB=-448.33;TI=NM_001161664,NM_001010892;GI=RSPH4A,RSPH4A;FC=Silent,Missense_L589P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,33:70:99:777,0,859:57:99:0.471 chr6 116951678 rs9488991 A C 996.14 PASS BaseQRankSum=1.417;DP=80;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.6817;MQ=48;MQ0=0;MQRankSum=0.691;QD=12.45;ReadPosRankSum=-2.229;SB=-589.58;TI=NM_001161664,NM_001010892;GI=RSPH4A,RSPH4A;FC=Synonymous_P581P,Missense_N627H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,44:80:99:1026,0,836:48:99:0.550 chr6 117243260 rs7764347 T C 612.91 PASS BaseQRankSum=2.207;DP=67;Dels=0.00;FS=0.989;HRun=1;HaplotypeScore=1.8835;MQ=49;MQ0=0;MQRankSum=-1.190;QD=9.15;ReadPosRankSum=0.920;SB=-281.04;TI=NM_173560;GI=RFX6;FC=Synonymous_T461T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,26:67:99:643,0,983:49:99:0.388 chr6 117244374 rs7770158 T C 856.28 PASS BaseQRankSum=-0.296;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9993;MQ=56;MQ0=0;MQRankSum=1.330;QD=13.38;ReadPosRankSum=0.605;SB=-341.59;TI=NM_173560;GI=RFX6;FC=Synonymous_N514N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,33:64:99:886,0,788:56:99:0.516 chr6 117246719 rs4946206 C T 3941.94 PASS BaseQRankSum=-1.705;DP=312;Dels=0.00;FS=0.422;HRun=0;HaplotypeScore=10.1056;MQ=55;MQ0=0;MQRankSum=2.646;QD=12.63;ReadPosRankSum=0.477;SB=-2122.68;TI=NM_173560;GI=RFX6;FC=Synonymous_H594H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:149,163:312:99:3942,0,3761:55:99:0.522 chr6 117248218 rs611349 T C 26.97 LowDP BaseQRankSum=-2.166;DP=10;Dels=0.00;FS=5.229;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.296;QD=2.70;ReadPosRankSum=0.546;SB=-37.93;TI=NM_173560;GI=RFX6;FC=Synonymous_G638G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,3:10:56.96:57,0,257:60:27:0.300 chr6 117252672 rs631089 C A 124.08 PASS BaseQRankSum=0.544;DP=32;Dels=0.00;FS=1.651;HRun=1;HaplotypeScore=0.9159;MQ=56;MQ0=0;MQRankSum=0.892;QD=3.88;ReadPosRankSum=-0.413;SB=-102.79;TI=NM_173560;GI=RFX6;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,8:32:99:154,0,571:56:99:0.250 chr6 117665231 rs35841892 T C 1859.69 PASS BaseQRankSum=0.639;DP=136;Dels=0.00;FS=1.352;HRun=1;HaplotypeScore=4.7824;MQ=58;MQ0=0;MQRankSum=0.508;QD=13.67;ReadPosRankSum=0.341;SB=-1200.91;TI=NM_002944;GI=ROS1;FC=Missense_R1506G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,75:136:99:1890,0,1641:58:99:0.551 chr6 117724379 rs2243380 C T 1414.76 PASS BaseQRankSum=1.210;DP=96;Dels=0.00;FS=5.401;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=-0.249;QD=14.74;ReadPosRankSum=-0.249;SB=-462.82;TI=NM_002944;GI=ROS1;FC=Missense_R167Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,49:96:99:1445,0,1285:55:99:0.516 chr6 117725578 rs2243378 T A 3147.94 PASS DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=25.80;SB=-2062.19;TI=NM_002944;GI=ROS1;FC=Synonymous_L101L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3181,226,0:54:99:1.000 chr6 118886961 rs3734382 G T 2670.88 PASS BaseQRankSum=1.658;DP=220;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7872;MQ=56;MQ0=0;MQRankSum=1.600;QD=12.14;ReadPosRankSum=1.152;SB=-1641.03;TI=NM_001042475,NM_001178035,NM_206921;GI=C6orf204,C6orf204,C6orf204;FC=Missense_P251T,Missense_P254T,Missense_P251T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,101:220:99:2701,0,3133:56:99:0.459 chr6 118887303 rs3734381 T C 2299.50 PASS BaseQRankSum=2.034;DP=205;Dels=0.00;FS=1.730;HRun=1;HaplotypeScore=4.5142;MQ=57;MQ0=0;MQRankSum=1.793;QD=11.22;ReadPosRankSum=1.667;SB=-1301.93;TI=NM_001042475,NM_001178035,NM_206921;GI=C6orf204,C6orf204,C6orf204;FC=Missense_S137G,Missense_S140G,Missense_S137G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,91:205:99:2329,0,2782:57:99:0.444 chr6 118973953 rs9489486 A G 1448.58 PASS BaseQRankSum=0.342;DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5423;MQ=55;MQ0=0;MQRankSum=1.458;QD=10.13;ReadPosRankSum=0.900;SB=-745.23;TI=NM_001178035;GI=C6orf204;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,59:143:99:1479,0,2381:55:99:0.413 chr6 123581789 . G GA 172.83 R8 BaseQRankSum=-3.021;DP=22;FS=2.128;HRun=15;HaplotypeScore=148.5721;MQ=47;MQ0=0;MQRankSum=0.485;QD=7.86;ReadPosRankSum=-1.679;SB=-102.73;TI=NM_006073;GI=TRDN;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,12:22:47.55:212,0,48:47:48:0.632 chr6 123594510 . T TA 561.32 PASS BaseQRankSum=0.957;DP=39;FS=0.000;HRun=4;HaplotypeScore=38.5900;MQ=59;MQ0=0;MQRankSum=0.957;QD=14.39;ReadPosRankSum=-0.228;SB=-254.50;TI=NM_006073;GI=TRDN;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,19:39:99:600,0,572:59:99:0.500 chr6 123658825 rs9401658 G T 1534.73 PASS BaseQRankSum=-0.693;DP=152;Dels=0.00;FS=1.294;HRun=0;HaplotypeScore=5.4599;MQ=54;MQ0=0;MQRankSum=0.468;QD=10.10;ReadPosRankSum=-0.936;SB=-1140.36;TI=NM_006073;GI=TRDN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,75:152:99:1565,0,1644:54:99:0.493 chr6 123687288 rs2873479 A C 2824.80 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=55;MQ0=0;QD=26.65;SB=-2038.68;TI=NM_006073;GI=TRDN;FC=Missense_I438S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2858,202,0:55:99:1.000 chr6 123696766 rs17737379 G T 1381.37 PASS BaseQRankSum=-0.819;DP=88;Dels=0.00;FS=1.755;HRun=3;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.277;QD=15.70;ReadPosRankSum=0.946;SB=-894.35;TI=NM_006073;GI=TRDN;FC=Missense_D419E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,52:88:99:1411,0,925:55:99:0.591 chr6 123833457 rs6902416 G C 185.31 PASS BaseQRankSum=0.613;DP=31;Dels=0.00;FS=3.779;HRun=0;HaplotypeScore=3.8254;MQ=52;MQ0=0;MQRankSum=2.092;QD=5.98;ReadPosRankSum=1.078;SB=-47.55;TI=NM_006073;GI=TRDN;FC=Missense_L201V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,10:31:99:215,0,598:52:99:0.323 chr6 123869607 rs9490809 G C 2297.31 PASS BaseQRankSum=0.619;DP=182;Dels=0.00;FS=2.629;HRun=0;HaplotypeScore=3.6820;MQ=52;MQ0=0;MQRankSum=1.752;QD=12.62;ReadPosRankSum=-0.866;SB=-1601.04;TI=NM_006073;GI=TRDN;FC=Missense_T128S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,103:182:99:2327,0,1804:52:99:0.566 chr6 128388799 rs35030557 G T 4506.35 PASS DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0493;MQ=54;MQ0=0;QD=28.89;SB=-2711.10;TI=NM_002844,NM_001135648;GI=PTPRK,PTPRK;FC=Synonymous_L674L,Synonymous_L674L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,156:156:99:4506,331,0:54:99:1.000 chr6 128403745 rs17828130 A G 6815.10 PASS BaseQRankSum=-0.438;DP=255;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2312;MQ=51;MQ0=0;MQRankSum=-1.660;QD=26.73;ReadPosRankSum=-1.092;SB=-4761.97;TI=NM_002844,NM_001135648;GI=PTPRK,PTPRK;FC=Synonymous_V538V,Synonymous_V538V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,253:255:99:6815,449,0:51:99:0.992 chr6 129381026 rs4404787 C A 6402.43 PASS BaseQRankSum=1.717;DP=226;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3613;MQ=54;MQ0=0;MQRankSum=-0.996;QD=28.33;ReadPosRankSum=0.015;SB=-4253.88;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_T127T,Synonymous_T127T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,225:226:99:6402,461,0:54:99:0.996 chr6 129571330 rs3816665 G A 762.00 PASS BaseQRankSum=0.732;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9993;MQ=49;MQ0=0;MQRankSum=-1.000;QD=11.91;ReadPosRankSum=-0.410;SB=-445.03;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Missense_R619H,Missense_R619H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,32:64:99:792,0,728:49:99:0.500 chr6 129612808 rs1027199 A G 2251.37 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=54;MQ0=0;QD=27.79;SB=-1354.57;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_Q933Q,Synonymous_Q933Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2284,163,0:54:99:1.000 chr6 129670537 . C A 9.09 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=0.091;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-1.369;QD=0.65;ReadPosRankSum=0.456;SB=-0.01;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,2:14:38.51:39,0,442:60:9:0.143 chr6 129691132 rs17057184 C G 1057.00 PASS BaseQRankSum=-0.242;DP=106;Dels=0.00;FS=0.769;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=1.282;QD=9.97;ReadPosRankSum=2.509;SB=-472.64;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_T1652T,Synonymous_T1652T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,42:106:99:1087,0,1711:56:99:0.396 chr6 129722389 rs3749877 A G 987.47 PASS BaseQRankSum=-0.209;DP=75;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=1.8899;MQ=52;MQ0=0;MQRankSum=-0.852;QD=13.17;ReadPosRankSum=0.948;SB=-721.77;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_E1822E,Synonymous_E1822E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,43:75:99:1017,0,814:52:99:0.573 chr6 129722425 rs3749878 G A 984.61 PASS BaseQRankSum=0.000;DP=68;Dels=0.00;FS=2.026;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.577;QD=14.48;ReadPosRankSum=1.228;SB=-675.85;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_E1834E,Synonymous_E1834E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,41:68:99:1015,0,628:54:99:0.603 chr6 129762112 rs2297738 G A 884.35 PASS BaseQRankSum=2.412;DP=86;Dels=0.00;FS=0.803;HRun=2;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=1.856;QD=10.28;ReadPosRankSum=0.009;SB=-588.97;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_T2079T,Synonymous_T2079T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,39:86:99:914,0,1054:54:99:0.453 chr6 129807714 rs2229850 G A 1520.32 PASS DP=59;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=25.77;SB=-1157.58;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_P2611P,Synonymous_P2615P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:59:99:1553,108,0:54:99:1.000 chr6 131948816 . T TAA 381.70 R8 BaseQRankSum=0.859;DP=48;FS=6.825;HRun=14;HaplotypeScore=175.0308;MQ=56;MQ0=0;MQRankSum=0.152;QD=7.95;ReadPosRankSum=-1.162;SB=-209.55;TI=NM_015979,NM_004830;GI=MED23,MED23;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,12:48:99:421,0,466:56:99:0.333 chr6 132168997 rs7773477 G T 1092.34 PASS BaseQRankSum=0.697;DP=108;Dels=0.00;FS=5.893;HRun=1;HaplotypeScore=34.0410;MQ=49;MQ0=0;MQRankSum=-1.364;QD=10.11;ReadPosRankSum=2.172;SB=-516.40;TI=NM_006208;GI=ENPP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,49:108:99:1122,0,1563:49:99:0.454 chr6 132172368 rs1044498 A C 1267.52 PASS BaseQRankSum=-0.363;DP=84;Dels=0.00;FS=0.941;HRun=1;HaplotypeScore=4.7771;MQ=54;MQ0=0;MQRankSum=1.461;QD=15.09;ReadPosRankSum=1.016;SB=-482.14;TI=NM_006208;GI=ENPP1;FC=Missense_K173Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,49:84:99:1298,0,903:54:99:0.583 chr6 132271952 rs7451102 G C 2495.02 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48;MQ0=0;QD=29.70;SB=-1033.73;TI=NM_001901;GI=CTGF;FC=Missense_H83D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2528,187,0:48:99:1.000 chr6 132271959 rs12206231 T G 2432.01 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=48;MQ0=0;QD=29.30;SB=-1016.00;TI=NM_001901;GI=CTGF;FC=Synonymous_L80L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2465,184,0:48:99:1.000 chr6 132271980 rs6934749 T G 1389.55 PASS DP=49;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=28.36;SB=-620.23;TI=NM_001901;GI=CTGF;FC=Synonymous_P73P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1423,105,0:50:99:1.000 chr6 132859609 rs2842899 T A 3268.13 PASS BaseQRankSum=0.435;DP=306;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5764;MQ=53;MQ0=0;MQRankSum=1.020;QD=10.68;ReadPosRankSum=0.893;SB=-2114.79;TI=NM_175057;GI=TAAR9;FC=Missense_X61K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:161,145:306:99:3268,0,4237:53:99:0.474 chr6 132892253 rs8192624 G A 2779.35 PASS BaseQRankSum=1.993;DP=202;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2259;MQ=56;MQ0=0;MQRankSum=1.561;QD=13.76;ReadPosRankSum=2.255;SB=-1360.34;TI=NM_175067;GI=TAAR6;FC=Missense_V265I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,103:202:99:2809,0,2537:56:99:0.512 chr6 133015271 rs2272996 T C 1266.28 PASS BaseQRankSum=0.679;DP=108;Dels=0.00;FS=6.172;HRun=0;HaplotypeScore=5.8813;MQ=58;MQ0=0;MQRankSum=-0.156;QD=11.72;ReadPosRankSum=0.168;SB=-593.60;TI=NM_004666;GI=VNN1;FC=Missense_N131S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,45:108:99:1296,0,1959:58:99:0.417 chr6 133789728 rs9493627 G A 774.55 PASS BaseQRankSum=1.314;DP=63;Dels=0.00;FS=3.640;HRun=0;HaplotypeScore=3.8893;MQ=53;MQ0=0;MQRankSum=1.768;QD=12.29;ReadPosRankSum=0.681;SB=-287.46;TI=NM_004100,NM_172105,NM_172103;GI=EYA4,EYA4,EYA4;FC=Missense_G277S,Missense_G277S,Missense_G254S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,30:63:99:805,0,802:53:99:0.476 chr6 134493397 rs1057293 G A 1451.35 PASS BaseQRankSum=-0.112;DP=154;Dels=0.00;FS=2.061;HRun=2;HaplotypeScore=5.2752;MQ=52;MQ0=0;MQRankSum=-0.952;QD=9.42;ReadPosRankSum=0.709;SB=-835.57;TI=NM_005627,NM_001143678,NM_001143677,NM_001143676;GI=SGK1,SGK1,SGK1,SGK1;FC=Synonymous_D240D,Synonymous_D254D,Synonymous_D268D,Synonymous_D335D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,66:154:99:1481,0,2118:52:99:0.431 chr6 134494708 . GA G 210.38 R8 BaseQRankSum=0.022;DP=67;FS=0.000;HRun=13;HaplotypeScore=110.3383;MQ=56;MQ0=0;MQRankSum=0.051;QD=3.14;ReadPosRankSum=-0.081;SB=-105.60;TI=NM_005627,NM_001143678,NM_001143677,NM_001143676;GI=SGK1,SGK1,SGK1,SGK1;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,15:67:99:249,0,802:56:99:0.263 chr6 135286438 . CA C 321.49 R8 BaseQRankSum=-0.210;DP=50;FS=2.424;HRun=12;HaplotypeScore=121.0453;MQ=53;MQ0=0;MQRankSum=0.731;QD=6.43;ReadPosRankSum=0.270;SB=-163.96;TI=NM_006620,NM_001145158;GI=HBS1L,HBS1L;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,15:50:99:361,0,499:53:99:0.375 chr6 135287533 rs13064 A G 1005.82 PASS BaseQRankSum=0.942;DP=81;Dels=0.00;FS=0.826;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=0.270;QD=12.42;ReadPosRankSum=-0.478;SB=-717.66;TI=NM_006620,NM_001145158;GI=HBS1L,HBS1L;FC=Synonymous_F659F,Synonymous_F617F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,43:81:99:1036,0,867:52:99:0.531 chr6 135358567 rs7742542 T G 2103.63 PASS BaseQRankSum=0.952;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=58;MQ0=0;MQRankSum=0.799;QD=12.60;ReadPosRankSum=0.456;SB=-1253.03;TI=NM_006620,NM_001145158,NM_001145207;GI=HBS1L,HBS1L,HBS1L;FC=Silent,Silent,Missense_E343A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,83:167:99:2134,0,2165:58:99:0.497 chr6 137323213 rs1342642 G A 2843.14 PASS BaseQRankSum=0.924;DP=211;Dels=0.00;FS=2.401;HRun=1;HaplotypeScore=14.3257;MQ=56;MQ0=0;MQRankSum=1.038;QD=13.47;ReadPosRankSum=3.350;SB=-1534.29;TI=NM_014432;GI=IL20RA;FC=Missense_L382F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,110:211:99:2873,0,2488:56:99:0.524 chr6 137325847 rs1555498 C T 1769.33 PASS DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=26.02;SB=-1284.35;TI=NM_014432;GI=IL20RA;FC=Missense_V259I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:1802,132,0:50:99:1.000 chr6 137325901 . TAA T,TA 629.24 R8 BaseQRankSum=0.116;DP=33;FS=0.000;HaplotypeScore=164.3508;MQ=53;MQ0=0;MQRankSum=-0.116;QD=19.07;ReadPosRankSum=-0.693;SB=-243.77;TI=NM_014432;GI=IL20RA;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:7,14,0:33:99:707,245,234,331,0,270:53:99:0.667 chr6 137519780 rs3799488 T C 71.04 SB;LowDP BaseQRankSum=0.988;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.406;QD=11.84;ReadPosRankSum=-0.406;SB=-0.01;TI=NM_000416;GI=IFNGR1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,3:6:99:101,0,100:60:71:0.500 chr6 137540370 rs7749390 A G 397.33 PASS BaseQRankSum=-0.889;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9512;MQ=56;MQ0=0;MQRankSum=0.799;QD=8.64;ReadPosRankSum=1.407;SB=-247.53;TI=NM_000416;GI=IFNGR1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,18:46:99:427,0,676:56:99:0.391 chr6 144326129 rs1474882 A T 788.40 PASS BaseQRankSum=0.111;DP=52;Dels=0.00;FS=2.735;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=0.774;QD=15.16;ReadPosRankSum=2.690;SB=-318.27;TI=NM_002656,NM_001080953,NM_001080956,NM_001080952,NM_006718,NM_001080954,NM_001080955,NM_001080951,NR_002768;GI=PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,HYMAI;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,29:52:99:818,0,675:55:99:0.558 chr6 144327712 . CT C 329.88 LowVariantFreq;R8 BaseQRankSum=0.143;DP=180;FS=2.051;HRun=13;HaplotypeScore=479.6051;MQ=51;MQ0=0;MQRankSum=2.799;QD=1.83;ReadPosRankSum=0.614;SB=-159.70;TI=NM_002656,NM_001080953,NM_001080956,NM_001080952,NM_006718,NM_001080954,NM_001080955,NM_001080951,NR_002768;GI=PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,PLAGL1,HYMAI;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,29:180:99:369,0,2430:51:99:0.193 chr6 144758799 rs4895642 A G 205.88 PASS BaseQRankSum=0.110;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-1.523;QD=5.42;ReadPosRankSum=1.335;SB=-174.49;TI=NM_007124;GI=UTRN;FC=Synonymous_E386E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,12:38:99:236,0,619:56:99:0.316 chr6 144820385 rs41285039 C T 1584.25 PASS BaseQRankSum=0.780;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=2.738;QD=13.90;ReadPosRankSum=1.490;SB=-741.95;TI=NM_007124;GI=UTRN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,60:114:99:1614,0,1336:57:99:0.526 chr6 144820425 rs35303759 A C 2156.93 PASS BaseQRankSum=0.240;DP=157;Dels=0.00;FS=5.997;HRun=1;HaplotypeScore=4.4922;MQ=55;MQ0=0;MQRankSum=1.922;QD=13.74;ReadPosRankSum=0.458;SB=-936.70;TI=NM_007124;GI=UTRN;FC=Synonymous_A1542A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,79:157:99:2187,0,1890:55:99:0.503 chr6 144820481 rs35042870 C G 2251.57 PASS BaseQRankSum=0.222;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8833;MQ=55;MQ0=0;MQRankSum=2.389;QD=12.79;ReadPosRankSum=-0.802;SB=-1475.74;TI=NM_007124;GI=UTRN;FC=Missense_S1561C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,91:176:99:2282,0,2020:55:99:0.517 chr6 144835040 rs66905872 T C 466.17 PASS BaseQRankSum=0.856;DP=36;Dels=0.00;FS=1.331;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=-0.380;QD=12.95;ReadPosRankSum=-0.539;SB=-276.04;TI=NM_007124;GI=UTRN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,17:36:99:496,0,447:55:99:0.472 chr6 145051594 rs4305737 G A 331.27 PASS BaseQRankSum=-1.105;DP=38;Dels=0.00;FS=1.310;HRun=1;HaplotypeScore=2.6274;MQ=53;MQ0=0;MQRankSum=2.133;QD=8.72;ReadPosRankSum=-0.257;SB=-213.71;TI=NM_007124;GI=UTRN;FC=Synonymous_E2637E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,14:38:99:361,0,558:53:99:0.368 chr6 146007332 rs35230590 C T 1808.04 PASS BaseQRankSum=2.998;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5760;MQ=47;MQ0=0;MQRankSum=0.360;QD=11.97;ReadPosRankSum=0.092;SB=-1292.99;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Synonymous_G134G,Synonymous_G134G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,82:151:99:1838,0,1508:47:99:0.543 chr6 146056476 rs2235482 G C 247.41 PASS BaseQRankSum=-1.643;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4820;MQ=51;MQ0=0;MQRankSum=-0.713;QD=10.31;ReadPosRankSum=0.651;SB=-159.41;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Synonymous_A53A,Synonymous_A53A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,13:24:99:277,0,243:51:99:0.565 chr6 146480740 . TTC T 240.46 R8;SB BaseQRankSum=1.713;DP=25;FS=0.000;HRun=0;HaplotypeScore=101.1428;MQ=56;MQ0=0;MQRankSum=0.623;QD=9.62;ReadPosRankSum=0.778;SB=-0.00;TI=NM_000838,NM_001114329;GI=GRM1,GRM1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,6:25:73.44:279,0,73:56:73:0.286 chr6 146755140 rs2942 G A 3925.35 PASS BaseQRankSum=3.839;DP=352;Dels=0.00;FS=0.813;HRun=2;HaplotypeScore=9.1874;MQ=53;MQ0=0;MQRankSum=-1.010;QD=11.15;ReadPosRankSum=0.749;SB=-2759.75;TI=NM_000838,NM_001114329;GI=GRM1,GRM1;FC=Synonymous_K931K,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:179,173:352:99:3925,0,4164:53:99:0.491 chr6 146755324 rs6923492 T C 1071.60 PASS BaseQRankSum=1.760;DP=68;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.5220;MQ=58;MQ0=0;MQRankSum=-1.417;QD=15.76;ReadPosRankSum=-0.006;SB=-121.24;TI=NM_000838,NM_001114329;GI=GRM1,GRM1;FC=Missense_S993P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,34:68:99:1102,0,1112:58:99:0.500 chr6 146755515 rs6923864 T G 964.60 PASS BaseQRankSum=-0.210;DP=72;Dels=0.00;FS=6.264;HRun=2;HaplotypeScore=7.2954;MQ=56;MQ0=0;MQRankSum=1.456;QD=13.40;ReadPosRankSum=-0.085;SB=-112.76;TI=NM_000838,NM_001114329;GI=GRM1,GRM1;FC=Synonymous_G1056G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,32:72:99:995,0,1166:56:99:0.444 chr6 146755560 rs1047006 T G 954.27 PASS BaseQRankSum=1.198;DP=86;Dels=0.00;FS=4.405;HRun=0;HaplotypeScore=9.3856;MQ=57;MQ0=0;MQRankSum=0.703;QD=11.10;ReadPosRankSum=1.012;SB=-325.01;TI=NM_000838,NM_001114329;GI=GRM1,GRM1;FC=Synonymous_P1071P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,38:86:99:984,0,1183:57:99:0.447 chr6 146755842 rs9373491 C A 1646.37 PASS BaseQRankSum=3.701;DP=113;Dels=0.00;FS=2.693;HRun=0;HaplotypeScore=11.9099;MQ=55;MQ0=0;MQRankSum=-0.291;QD=14.57;ReadPosRankSum=0.985;SB=-546.44;TI=NM_000838,NM_001114329;GI=GRM1,GRM1;FC=Synonymous_P1165P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,59:113:99:1676,0,1341:55:99:0.527 chr6 147635413 rs1039084 A G 1772.31 PASS BaseQRankSum=2.303;DP=130;Dels=0.00;FS=0.673;HRun=0;HaplotypeScore=6.3640;MQ=54;MQ0=0;MQRankSum=0.777;QD=13.63;ReadPosRankSum=1.183;SB=-1018.01;TI=NM_001127715,NM_139244;GI=STXBP5,STXBP5;FC=Missense_N436S,Missense_N436S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,76:130:99:1802,0,1293:54:99:0.585 chr6 147680359 rs9390459 A G 1974.46 PASS BaseQRankSum=3.663;DP=218;Dels=0.00;FS=1.695;HRun=0;HaplotypeScore=7.1527;MQ=57;MQ0=0;MQRankSum=-1.230;QD=9.06;ReadPosRankSum=-1.248;SB=-1466.13;TI=NM_001127715,NM_139244;GI=STXBP5,STXBP5;FC=Synonymous_L815L,Synonymous_L779L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,94:218:99:2004,0,3025:57:99:0.431 chr6 149700491 rs3734296 G A 128.57 PASS BaseQRankSum=1.518;DP=21;Dels=0.00;FS=2.057;HRun=0;HaplotypeScore=2.6823;MQ=57;MQ0=0;MQRankSum=2.297;QD=6.12;ReadPosRankSum=-1.051;SB=-21.96;TI=NM_015093;GI=TAB2;FC=Synonymous_V480V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,6:21:99:159,0,387:57:99:0.286 chr6 149721690 rs237025 G A 1094.64 PASS BaseQRankSum=0.118;DP=111;Dels=0.00;FS=3.684;HRun=1;HaplotypeScore=7.3663;MQ=56;MQ0=0;MQRankSum=-0.214;QD=9.86;ReadPosRankSum=-0.654;SB=-493.94;TI=NM_015093,NM_001002255;GI=TAB2,SUMO4;FC=Silent,Missense_V55M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,44:111:99:1125,0,1691:56:99:0.396 chr6 149730846 rs652921 G A 474.96 PASS BaseQRankSum=0.643;DP=24;Dels=0.00;FS=1.718;HRun=0;HaplotypeScore=1.7882;MQ=59;MQ0=0;MQRankSum=0.459;QD=19.79;ReadPosRankSum=-0.459;SB=-213.78;TI=NM_015093;GI=TAB2;FC=Synonymous_R691R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,16:24:99:505,0,224:59:99:0.667 chr6 150114745 rs4816 G A 1505.10 PASS BaseQRankSum=0.792;DP=107;Dels=0.00;FS=0.731;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=0.655;QD=14.07;ReadPosRankSum=1.845;SB=-966.68;TI=NM_005389;GI=PCMT1;FC=Missense_V178I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,59:107:99:1535,0,1105:55:99:0.551 chr6 150341260 rs3798765 C T 107.40 SB BaseQRankSum=-0.024;DP=172;Dels=0.00;FS=6.803;HRun=1;HaplotypeScore=0.8667;MQ=9;MQ0=145;MQRankSum=-0.704;QD=0.62;ReadPosRankSum=-1.189;SB=-0.01 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,54:172:99:137,0,203:9:99:0.314 chr6 150342232 rs2282236;rs61730071 G A 852.33 PASS BaseQRankSum=2.091;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=1.162;QD=10.15;ReadPosRankSum=1.481;SB=-415.76;TI=NM_130900;GI=RAET1L;FC=Missense_T147I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,34:84:99:882,0,1351:54:99:0.405 chr6 150343211 rs912565;rs3734727;rs75277407 A G 337.84 PASS DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=12;MQ0=44;QD=4.97;SB=-142.87;TI=NM_130900;GI=RAET1L;FC=Missense_M85T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:38.99:371,39,0:12:39:1.000 chr6 150346532 rs1543547 T C 984.48 PASS BaseQRankSum=0.087;DP=77;Dels=0.00;FS=1.970;HRun=2;HaplotypeScore=4.6358;MQ=53;MQ0=0;MQRankSum=1.749;QD=12.79;ReadPosRankSum=-0.698;SB=-419.65;TI=NM_130900;GI=RAET1L;FC=Missense_R26G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,40:77:99:1014,0,993:53:99:0.519 chr6 150716696 rs612421 T C 5964.50 PASS BaseQRankSum=1.698;DP=203;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8936;MQ=56;MQ0=0;MQRankSum=0.213;QD=29.38;ReadPosRankSum=-1.613;SB=-3784.00;TI=NM_001164695,NM_001164694,NM_203395;GI=IYD,IYD,IYD;FC=Silent,Missense_C265R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,202:203:99:5964,430,0:56:99:0.995 chr6 151187104 . A G 5.92 LowGQX;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.804;QD=2.96;ReadPosRankSum=0.804;SB=-0.01;TI=NM_015440;GI=MTHFD1L;FC=Missense_Q49R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:31.78:35,0,32:60:6:0.500 chr6 151247439 rs803455 A G 3330.41 PASS DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=32.65;SB=-1165.26;TI=NM_015440;GI=MTHFD1L;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:102:99:3330,244,0:57:99:1.000 chr6 151336739 rs509474 C G 767.69 PASS BaseQRankSum=0.134;DP=62;Dels=0.00;FS=3.556;HRun=1;HaplotypeScore=0.8667;MQ=58;MQ0=0;MQRankSum=-0.615;QD=12.38;ReadPosRankSum=-1.605;SB=-351.99;TI=NM_015440;GI=MTHFD1L;FC=Synonymous_S832S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,28:62:99:798,0,812:58:99:0.452 chr6 151859314 rs4870034 A G 850.47 PASS BaseQRankSum=-0.087;DP=83;Dels=0.00;FS=5.833;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=2.505;QD=10.25;ReadPosRankSum=1.474;SB=-464.24;TI=NM_025059;GI=C6orf97;FC=Synonymous_E107E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,39:83:99:880,0,1162:56:99:0.470 chr6 151894505 rs953767 T C 557.28 PASS BaseQRankSum=-1.137;DP=41;Dels=0.00;FS=4.886;HRun=1;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-0.458;QD=13.59;ReadPosRankSum=-1.033;SB=-285.17;TI=NM_025059;GI=C6orf97;FC=Missense_F324S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,22:41:99:587,0,558:58:99:0.537 chr6 151914421 rs9383930 A G 3918.58 PASS DP=131;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5215;MQ=56;MQ0=0;QD=29.91;SB=-2030.59;TI=NM_025059;GI=C6orf97;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:131:99:3919,289,0:56:99:1.000 chr6 151936677 rs6929137 G A 916.61 PASS BaseQRankSum=-1.494;DP=69;Dels=0.00;FS=4.738;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-1.470;QD=13.28;ReadPosRankSum=-2.214;SB=-542.37;TI=NM_025059;GI=C6orf97;FC=Missense_V604I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,35:69:99:947,0,1089:58:99:0.507 chr6 151939181 rs3734804 G A 5035.96 PASS DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1327;MQ=55;MQ0=0;QD=27.67;SB=-3237.88;TI=NM_025059;GI=C6orf97;FC=Missense_V683I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,181:182:99:5036,361,0:55:99:1.000 chr6 152129077 rs2077647 T C 2192.75 PASS BaseQRankSum=4.901;DP=190;Dels=0.00;FS=7.466;HRun=1;HaplotypeScore=5.4363;MQ=53;MQ0=0;MQRankSum=2.340;QD=11.54;ReadPosRankSum=2.617;SB=-1461.33;TI=NM_001122742,NM_001122741,NM_001122740,NM_000125;GI=ESR1,ESR1,ESR1,ESR1;FC=Synonymous_S10S,Synonymous_S10S,Synonymous_S10S,Synonymous_S10S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,92:190:99:2223,0,2360:53:99:0.484 chr6 152129308 rs746432 G C 3053.97 PASS BaseQRankSum=1.153;DP=224;Dels=0.00;FS=3.849;HRun=1;HaplotypeScore=15.4285;MQ=57;MQ0=0;MQRankSum=1.018;QD=13.63;ReadPosRankSum=-0.182;SB=-1801.29;TI=NM_001122742,NM_001122741,NM_001122740,NM_000125;GI=ESR1,ESR1,ESR1,ESR1;FC=Synonymous_A87A,Synonymous_A87A,Synonymous_A87A,Synonymous_A87A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,121:224:99:3084,0,2530:57:99:0.543 chr6 152201875 rs4986934 T C 2095.95 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=55;MQ0=0;QD=24.95;SB=-1375.94;TI=NM_001122742,NM_001122741,NM_001122740,NM_000125;GI=ESR1,ESR1,ESR1,ESR1;FC=Synonymous_R243R,Synonymous_R243R,Synonymous_R243R,Synonymous_R243R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2129,150,0:55:99:1.000 chr6 152265522 rs1801132 G C 3112.17 PASS DP=114;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=2.6823;MQ=52;MQ0=0;QD=27.30;SB=-1659.41;TI=NM_001122742,NM_001122741,NM_001122740,NM_000125;GI=ESR1,ESR1,ESR1,ESR1;FC=Synonymous_P325P,Synonymous_P325P,Synonymous_P325P,Synonymous_P325P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:114:99:3145,223,0:52:99:1.000 chr6 152453291 rs35591210 G A 1299.77 PASS BaseQRankSum=1.725;DP=90;Dels=0.00;FS=1.819;HRun=0;HaplotypeScore=4.4704;MQ=55;MQ0=0;MQRankSum=-0.594;QD=14.44;ReadPosRankSum=0.812;SB=-779.74;TI=NM_133650,NM_015293,NM_033071,NM_182961;GI=SYNE1,SYNE1,SYNE1,SYNE1;FC=Missense_T872I,Missense_T3211I,Missense_T8639I,Missense_T8687I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,57:90:99:1330,0,732:55:99:0.633 chr6 152464839 rs2256135 A G 1627.23 PASS BaseQRankSum=5.115;DP=144;Dels=0.00;FS=1.313;HRun=0;HaplotypeScore=5.7766;MQ=52;MQ0=0;MQRankSum=1.188;QD=11.30;ReadPosRankSum=1.192;SB=-1038.23;TI=NM_133650,NM_015293,NM_033071,NM_182961;GI=SYNE1,SYNE1,SYNE1,SYNE1;FC=Synonymous_R531R,Synonymous_R2870R,Synonymous_R8298R,Synonymous_R8346R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,69:144:99:1657,0,1692:52:99:0.479 chr6 152529260 rs3798756 G A 1900.40 PASS BaseQRankSum=-0.417;DP=155;Dels=0.00;FS=3.796;HRun=1;HaplotypeScore=6.6724;MQ=54;MQ0=0;MQRankSum=0.707;QD=12.26;ReadPosRankSum=-1.215;SB=-1128.36;TI=NM_015293,NM_033071,NM_182961;GI=SYNE1,SYNE1,SYNE1;FC=Synonymous_I2081I,Synonymous_I7486I,Synonymous_I7557I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,79:155:99:1930,0,1900:54:99:0.510 chr6 152540278 rs2147377 A C 3511.34 PASS DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4678;MQ=52;MQ0=0;QD=26.80;SB=-2146.82;TI=NM_015293,NM_033071,NM_182961;GI=SYNE1,SYNE1,SYNE1;FC=Missense_F1826V,Missense_F7231V,Missense_F7302V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3511,247,0:52:99:1.000 chr6 152615200 rs12664753 G A 1406.17 PASS BaseQRankSum=0.173;DP=119;Dels=0.00;FS=2.498;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-1.518;QD=11.82;ReadPosRankSum=-1.029;SB=-729.34;TI=NM_015293,NM_033071,NM_182961;GI=SYNE1,SYNE1,SYNE1;FC=Synonymous_H439H,Synonymous_H5844H,Synonymous_H5915H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,58:119:99:1436,0,1607:57:99:0.487 chr6 152629772 . G GA 72.70 R8 BaseQRankSum=-0.201;DP=36;FS=0.000;HRun=14;HaplotypeScore=130.3317;MQ=53;MQ0=0;MQRankSum=1.114;QD=2.02;ReadPosRankSum=-0.895;SB=-43.85;TI=NM_015293,NM_033071,NM_182961;GI=SYNE1,SYNE1,SYNE1;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,9:36:99:112,0,449:53:73:0.281 chr6 152647681 rs2306916 A T 964.28 PASS BaseQRankSum=2.444;DP=82;Dels=0.00;FS=0.834;HRun=2;HaplotypeScore=2.6548;MQ=53;MQ0=0;MQRankSum=2.509;QD=11.76;ReadPosRankSum=-0.032;SB=-663.01;TI=NM_033071,NM_182961;GI=SYNE1,SYNE1;FC=Missense_L4944M,Missense_L5015M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,42:82:99:994,0,909:53:99:0.512 chr6 152652034 rs6911096 A T 3890.24 PASS BaseQRankSum=0.333;DP=289;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=12.6748;MQ=56;MQ0=0;MQRankSum=1.086;QD=13.46;ReadPosRankSum=-0.733;SB=-1686.66;TI=NM_033071,NM_182961;GI=SYNE1,SYNE1;FC=Missense_S4525T,Missense_S4596T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:148,141:289:99:3890,0,4209:56:99:0.488 chr6 152658142 rs9479297 T C 538.08 PASS BaseQRankSum=0.316;DP=51;Dels=0.00;FS=4.610;HRun=1;HaplotypeScore=1.7882;MQ=59;MQ0=0;MQRankSum=0.718;QD=10.55;ReadPosRankSum=-0.316;SB=-119.17;TI=NM_033071,NM_182961;GI=SYNE1,SYNE1;FC=Missense_K4050R,Missense_K4121R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,21:51:99:568,0,829:59:99:0.412 chr6 152660451 rs71575926 G A 732.12 PASS BaseQRankSum=0.359;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=-0.808;QD=10.61;ReadPosRankSum=0.626;SB=-291.38;TI=NM_033071,NM_182961;GI=SYNE1,SYNE1;FC=Synonymous_L4021L,Synonymous_L4092L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,29:69:99:762,0,1028:52:99:0.420 chr6 152708310 rs214950 G A 3385.11 PASS BaseQRankSum=2.214;DP=248;Dels=0.00;FS=8.433;HRun=0;HaplotypeScore=6.5647;MQ=55;MQ0=0;MQRankSum=0.207;QD=13.65;ReadPosRankSum=-0.381;SB=-2086.34;TI=NM_033071,NM_182961;GI=SYNE1,SYNE1;FC=Missense_A2802V,Missense_A2795V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,143:248:99:3385,0,2539:55:99:0.579 chr6 152772264 rs214976 A G 2972.43 PASS DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.02;SB=-1953.63;TI=NM_033071,NM_182961;GI=SYNE1,SYNE1;FC=Missense_V1042A,Missense_V1035A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:3005,217,0:52:99:1.000 chr6 152809527 rs9397106 A T 2547.56 PASS DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=31.84;SB=-1334.23;TI=NM_033071,NM_182961;GI=SYNE1,SYNE1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2581,187,0:58:99:1.000 chr6 154414446 rs540825 A T 81.02 LowDP BaseQRankSum=0.720;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=60;MQ0=0;MQRankSum=0.720;QD=13.50;ReadPosRankSum=0.000;SB=-40.65;TI=NM_001145279,NM_001145280,NM_001145281,NM_001008505,NM_001145286,NM_001145285,NM_001145283,NM_001145282,NM_000914,NM_001008503,NM_001145284,NM_001145287;GI=OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1;FC=Silent,Silent,Silent,Missense_Q402H,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,4:6:66.24:111,0,66:60:66:0.667 chr6 154428666 rs677830 C T 222.93 LowDP BaseQRankSum=-0.978;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.696;QD=17.15;ReadPosRankSum=0.437;SB=-33.30;TI=NM_001145279,NM_001145280,NM_001145281,NM_001145286,NM_001145285,NM_001145283,NM_001145282,NM_000914,NM_001008503,NM_001145284,NM_001145287;GI=OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1;FC=Silent,Silent,Silent,Nonsense_Q411X,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,8:13:99:253,0,133:57:99:0.615 chr6 154428702 rs650245 A G 303.83 LowDP BaseQRankSum=1.775;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3539;MQ=56;MQ0=0;MQRankSum=-0.930;QD=21.70;ReadPosRankSum=-1.099;SB=-71.63;TI=NM_001145279,NM_001145280,NM_001145281,NM_001145286,NM_001145285,NM_001145283,NM_001145282,NM_000914,NM_001008503,NM_001145284,NM_001145287;GI=OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1,OPRM1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,10:14:73.18:334,0,73:56:73:0.769 chr6 155606325 rs324356 C T 1135.04 PASS BaseQRankSum=0.277;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=-0.128;QD=11.58;ReadPosRankSum=0.804;SB=-730.61;TI=NM_016020;GI=TFB1M;FC=Synonymous_T211T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,47:98:99:1165,0,1194:53:99:0.480 chr6 157405930 rs3734441 G A 1539.03 PASS BaseQRankSum=1.540;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.1167;MQ=54;MQ0=0;MQRankSum=0.868;QD=11.75;ReadPosRankSum=-0.288;SB=-1075.74;TI=NM_020732,NM_017519;GI=ARID1B,ARID1B;FC=Synonymous_A724A,Synonymous_A711A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,67:131:99:1569,0,1605:54:99:0.511 chr6 157519938 . A G 2013.06 PASS BaseQRankSum=4.387;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3089;MQ=56;MQ0=0;MQRankSum=-0.015;QD=9.63;ReadPosRankSum=0.596;SB=-1298.70;TI=NM_020732,NM_017519;GI=ARID1B,ARID1B;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,86:209:99:2043,0,2915:56:99:0.411 chr6 159178345 rs901363 C T 2826.65 PASS BaseQRankSum=3.592;DP=258;Dels=0.00;FS=5.018;HRun=2;HaplotypeScore=7.4033;MQ=51;MQ0=0;MQRankSum=0.558;QD=10.96;ReadPosRankSum=1.742;SB=-1881.42;TI=NM_001009991;GI=SYTL3;FC=Missense_P346S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:137,120:258:99:2857,0,3251:51:99:0.467 chr6 159184462 rs2291387 A G 3168.70 PASS BaseQRankSum=1.441;DP=214;Dels=0.00;FS=0.517;HRun=0;HaplotypeScore=8.3588;MQ=57;MQ0=0;MQRankSum=0.884;QD=14.81;ReadPosRankSum=2.222;SB=-1672.58;TI=NM_001009991;GI=SYTL3;FC=Synonymous_S480S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,124:214:99:3199,0,2242:57:99:0.579 chr6 159185563 rs3123101 T A 1358.14 PASS BaseQRankSum=1.265;DP=126;Dels=0.00;FS=1.422;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=2.009;QD=10.78;ReadPosRankSum=0.012;SB=-929.15;TI=NM_001009991;GI=SYTL3;FC=Missense_L519Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,58:126:99:1388,0,1589:52:99:0.460 chr6 160113872 rs4880 A G 1387.53 PASS BaseQRankSum=3.200;DP=98;Dels=0.00;FS=6.666;HRun=0;HaplotypeScore=5.3371;MQ=56;MQ0=0;MQRankSum=0.637;QD=14.16;ReadPosRankSum=-0.075;SB=-596.19;TI=NM_001024465,NM_001024466,NM_000636;GI=SOD2,SOD2,SOD2;FC=Missense_V16A,Missense_V16A,Missense_V16A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,52:98:99:1418,0,1155:56:99:0.531 chr6 160114168 rs5746094 T C 499.90 PASS BaseQRankSum=-1.734;DP=41;Dels=0.00;FS=2.636;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.404;QD=12.19;ReadPosRankSum=0.170;SB=-259.18;TI=NM_001024465,NM_001024466,NM_000636;GI=SOD2,SOD2,SOD2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,20:41:99:530,0,505:54:99:0.488 chr6 160196343 rs25683 A G 1043.46 PASS BaseQRankSum=-0.458;DP=105;Dels=0.00;FS=0.771;HRun=0;HaplotypeScore=0.9159;MQ=53;MQ0=0;MQRankSum=0.484;QD=9.94;ReadPosRankSum=-0.815;SB=-473.64;TI=NM_005891;GI=ACAT2;FC=Missense_K211R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,44:105:99:1073,0,1545:53:99:0.419 chr6 160198359 rs3464 C T 2449.62 PASS BaseQRankSum=0.482;DP=209;Dels=0.00;FS=1.076;HRun=1;HaplotypeScore=4.4430;MQ=53;MQ0=0;MQRankSum=1.662;QD=11.72;ReadPosRankSum=-1.378;SB=-1644.96;TI=NM_005891;GI=ACAT2;FC=Synonymous_V261V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,106:209:99:2480,0,2473:53:99:0.507 chr6 160198395 rs3465 G A 2816.62 PASS BaseQRankSum=2.672;DP=241;Dels=0.00;FS=0.475;HRun=0;HaplotypeScore=7.1527;MQ=52;MQ0=0;MQRankSum=-0.005;QD=11.69;ReadPosRankSum=-1.245;SB=-1911.66;TI=NM_005891;GI=ACAT2;FC=Synonymous_G273G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,118:241:99:2847,0,2918:52:99:0.490 chr6 160199687 rs15982 T C 2760.43 PASS DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2071;MQ=53;MQ0=0;QD=25.80;SB=-1919.59;TI=NM_005891,NM_030752,NM_001008897;GI=ACAT2,TCP1,TCP1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:107:99:2793,205,0:53:99:1.000 chr6 160468278 rs998075 A G 6426.25 PASS DP=229;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.5882;MQ=54;MQ0=0;QD=28.06;SB=-3495.57;TI=NM_000876;GI=IGF2R;FC=Synonymous_T713T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,229:229:99:6426,461,0:54:99:1.000 chr6 160494409 rs629849 A G 4068.46 PASS DP=149;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.6461;MQ=55;MQ0=0;QD=27.31;SB=-2726.81;TI=NM_000876;GI=IGF2R;FC=Missense_R1619G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,147:149:99:4068,289,0:55:99:1.000 chr6 160505199 rs614754 C G 246.61 LowGQ;LowDP DP=10;Dels=0.20;FS=0.000;HRun=1;HaplotypeScore=1.9330;MQ=60;MQ0=0;QD=24.66;SB=-40.65;TI=NM_000876;GI=IGF2R;FC=Synonymous_L2017L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,8:8:21.07:280,21,0:60:21:1.000 chr6 160524773 rs2297370 T A 2043.15 PASS BaseQRankSum=2.373;DP=173;Dels=0.00;FS=1.888;HRun=1;HaplotypeScore=9.2675;MQ=53;MQ0=0;MQRankSum=0.185;QD=11.81;ReadPosRankSum=2.091;SB=-1357.99;TI=NM_000876;GI=IGF2R;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,88:173:99:2073,0,1820:53:99:0.512 chr6 160543080 rs35888596 G A 2815.97 PASS BaseQRankSum=-0.542;DP=260;Dels=0.00;FS=0.461;HRun=0;HaplotypeScore=18.3127;MQ=54;MQ0=0;MQRankSum=2.306;QD=10.83;ReadPosRankSum=-0.858;SB=-1746.52;TI=NM_153187,NM_003057;GI=SLC22A1,SLC22A1;FC=Missense_G38D,Missense_G38D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,124:260:99:2846,0,3078:54:99:0.477 chr6 160543123 rs1867351 T C 2737.36 PASS BaseQRankSum=1.154;DP=228;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.6814;MQ=53;MQ0=0;MQRankSum=0.505;QD=12.01;ReadPosRankSum=-0.879;SB=-1425.09;TI=NM_153187,NM_003057;GI=SLC22A1,SLC22A1;FC=Synonymous_S52S,Synonymous_S52S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,116:228:99:2767,0,2820:53:99:0.509 chr6 160551204 rs683369 G C 4086.93 PASS DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=52;MQ0=0;QD=27.07;SB=-2965.10;TI=NM_153187,NM_003057;GI=SLC22A1,SLC22A1;FC=Missense_L160F,Missense_L160F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,151:151:99:4087,289,0:52:99:1.000 chr6 160557569 rs7762846 C T 1520.42 PASS BaseQRankSum=1.836;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.7476;MQ=53;MQ0=0;MQRankSum=0.878;QD=11.61;ReadPosRankSum=-0.716;SB=-1051.57;TI=NM_153187,NM_003057;GI=SLC22A1,SLC22A1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,68:131:99:1550,0,1406:53:99:0.519 chr6 160560845 rs628031 A G 1781.19 PASS DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7865;MQ=48;MQ0=0;QD=30.71;SB=-660.16;TI=NM_153187,NM_003057;GI=SLC22A1,SLC22A1;FC=Missense_M408V,Missense_M408V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1814,147,0:48:99:1.000 chr6 160560897 . CTGGTAAGT C 1952.83 PASS DP=31;FS=0.000;HRun=0;HaplotypeScore=126.9669;MQ=39;MQ0=0;QD=62.99;SB=-629.36;TI=NM_153187,NM_003057;GI=SLC22A1,SLC22A1;FC=Splicing,Splicing;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:10,21:31:63.21:1995,63,0:39:63:0.677 chr6 160645832 rs316003 C T 3449.72 PASS DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.94;SB=-1294.72;TI=NM_003058;GI=SLC22A2;FC=Synonymous_V502V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:3450,256,0:56:99:1.000 chr6 160670282 rs316019 A C 4783.74 PASS DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=27.81;SB=-2920.91;TI=NM_003058;GI=SLC22A2;FC=Missense_S270A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,172:172:99:4784,343,0:55:99:1.000 chr6 160679400 rs624249 C A 1785.92 PASS DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=57;MQ0=0;QD=31.89;SB=-559.17;TI=NM_003058;GI=SLC22A2;FC=Synonymous_T130T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:56:99:1819,138,0:57:99:1.000 chr6 160769811 rs668871 C T 3422.03 PASS DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4330;MQ=54;MQ0=0;QD=31.11;SB=-1913.54;TI=NM_021977;GI=SLC22A3;FC=Synonymous_R120R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:3422,256,0:54:99:1.000 chr6 160969629 rs1801693 A G 67.08 LowDP BaseQRankSum=0.197;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=1.084;QD=3.73;ReadPosRankSum=1.281;SB=-56.58;TI=NM_005577;GI=LPA;FC=Missense_M1679T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,5:18:97.08:97,0,313:51:67:0.278 chr6 161132146 rs4757 C T 2094.93 PASS BaseQRankSum=0.523;DP=185;Dels=0.00;FS=3.516;HRun=1;HaplotypeScore=3.7866;MQ=53;MQ0=2;MQRankSum=2.306;QD=11.32;ReadPosRankSum=-1.291;SB=-1448.20;TI=NM_001168338,NM_000301;GI=PLG,PLG;FC=Synonymous_N110N,Synonymous_N110N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,100:185:99:2125,0,1960:53:99:0.541 chr6 161139857 rs13231 A G 1728.78 PASS BaseQRankSum=2.654;DP=143;Dels=0.00;FS=1.319;HRun=0;HaplotypeScore=7.3263;MQ=53;MQ0=0;MQRankSum=3.030;QD=12.09;ReadPosRankSum=-0.847;SB=-1012.62;TI=NM_000301;GI=PLG;FC=Synonymous_Q361Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,68:143:99:1759,0,1735:53:99:0.476 chr6 161143608 rs4252120 T C 1226.95 PASS BaseQRankSum=-0.942;DP=96;Dels=0.00;FS=2.712;HRun=0;HaplotypeScore=3.5764;MQ=57;MQ0=0;MQRankSum=-0.913;QD=12.78;ReadPosRankSum=1.265;SB=-817.36;TI=NM_000301;GI=PLG;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,50:96:99:1257,0,1165:57:99:0.521 chr6 161152240 rs4252125 G A 2576.98 PASS BaseQRankSum=1.573;DP=180;Dels=0.00;FS=5.336;HRun=1;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=1.309;QD=14.32;ReadPosRankSum=-0.313;SB=-1311.78;TI=NM_000301;GI=PLG;FC=Missense_D472N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,97:180:99:2607,0,2275:56:99:0.539 chr6 161160094 . T C 656.95 PASS BaseQRankSum=-0.256;DP=63;Dels=0.00;FS=2.218;HRun=0;HaplotypeScore=2.6823;MQ=57;MQ0=0;MQRankSum=0.436;QD=10.43;ReadPosRankSum=0.131;SB=-393.20;TI=NM_000301;GI=PLG;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,28:63:99:687,0,1001:57:99:0.444 chr6 161173946 rs11060 T G 2329.49 PASS BaseQRankSum=1.757;DP=242;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=43;MQ0=21;MQRankSum=0.475;QD=9.63;ReadPosRankSum=3.083;SB=-1078.24;TI=NM_000301;GI=PLG;FC=Synonymous_G762G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,120:242:99:2359,0,2989:43:99:0.496 chr6 163836376 rs2757578 C T 460.25 PASS BaseQRankSum=0.305;DP=44;Dels=0.00;FS=2.549;HRun=1;HaplotypeScore=2.5929;MQ=55;MQ0=0;MQRankSum=0.705;QD=10.46;ReadPosRankSum=-0.235;SB=-333.73;TI=NM_006775,NM_206854,NM_206855,NM_206853;GI=QKI,QKI,QKI,QKI;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,23:44:99:490,0,443:55:99:0.523 chr6 165832227 rs220740 C T 2478.86 PASS BaseQRankSum=-0.233;DP=211;Dels=0.00;FS=3.097;HRun=0;HaplotypeScore=6.2821;MQ=57;MQ0=0;MQRankSum=2.194;QD=11.75;ReadPosRankSum=-0.003;SB=-1640.89;TI=NM_001130690,NM_006661;GI=PDE10A,PDE10A;FC=Synonymous_A298A,Synonymous_A288A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,103:211:99:2509,0,2521:57:99:0.488 chr6 166572005 rs3816300 T C 725.42 PASS BaseQRankSum=-0.460;DP=47;Dels=0.00;FS=4.871;HRun=0;HaplotypeScore=2.7478;MQ=56;MQ0=0;MQRankSum=-0.096;QD=15.43;ReadPosRankSum=-0.802;SB=-152.61;TI=NM_003181;GI=T;FC=Missense_N369S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,26:47:99:755,0,491:56:99:0.553 chr6 166572045 rs3127328 C T 315.01 PASS BaseQRankSum=1.569;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.231;QD=12.12;ReadPosRankSum=-0.334;SB=-67.29;TI=NM_003181;GI=T;FC=Missense_G356S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,12:26:99:345,0,427:57:99:0.462 chr6 167369650 rs12193095 G A 830.17 PASS BaseQRankSum=-0.447;DP=110;Dels=0.00;FS=1.598;HRun=0;HaplotypeScore=1.8939;MQ=52;MQ0=0;MQRankSum=-1.421;QD=7.55;ReadPosRankSum=-0.551;SB=-625.83;TI=NM_003730;GI=RNASET2;FC=Synonymous_R7R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,43:110:99:860,0,1928:52:99:0.391 chr6 167550042 rs2071171 C T 4742.78 PASS DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6717;MQ=56;MQ0=0;QD=30.60;SB=-2818.50;TI=NM_004367,NM_031409;GI=CCR6,CCR6;FC=Synonymous_T108T,Synonymous_T108T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4743,349,0:56:99:1.000 chr6 167709702 rs2235197 G A 1613.53 PASS BaseQRankSum=0.616;DP=128;Dels=0.00;FS=2.309;HRun=0;HaplotypeScore=7.2705;MQ=54;MQ0=0;MQRankSum=0.431;QD=12.61;ReadPosRankSum=-0.392;SB=-1155.30;TI=NM_001143947,NM_018974;GI=UNC93A,UNC93A;FC=Nonsense_W151X,Nonsense_W151X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,72:128:99:1644,0,1327:54:99:0.567 chr6 169617934 rs67397239 GA G 1254.23 R8 BaseQRankSum=-1.953;DP=83;FS=0.842;HRun=10;HaplotypeScore=99.4148;MQ=51;MQ0=0;MQRankSum=-0.566;QD=15.11;ReadPosRankSum=-0.366;SB=-644.39;TI=NM_003247;GI=THBS2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,49:83:99:1293,0,670:51:99:0.598 chr6 169629783 rs6422747 G A 1121.88 PASS BaseQRankSum=1.344;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-0.026;QD=23.87;ReadPosRankSum=0.870;SB=-833.42;TI=NM_003247;GI=THBS2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,45:47:42.52:1155,43,0:57:43:0.957 chr6 169632219 rs35935937 G A 2700.29 PASS BaseQRankSum=-0.203;DP=204;Dels=0.00;FS=1.758;HRun=0;HaplotypeScore=3.6522;MQ=53;MQ0=0;MQRankSum=1.612;QD=13.24;ReadPosRankSum=0.158;SB=-1823.73;TI=NM_003247;GI=THBS2;FC=Synonymous_G669G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,114:204:99:2730,0,2146:53:99:0.562 chr6 169634896 rs34987335 G A 1252.09 PASS BaseQRankSum=-0.665;DP=102;Dels=0.00;FS=2.596;HRun=0;HaplotypeScore=6.5732;MQ=48;MQ0=0;MQRankSum=0.020;QD=12.28;ReadPosRankSum=2.108;SB=-754.63;TI=NM_003247;GI=THBS2;FC=Synonymous_Y528Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,55:102:99:1282,0,1009:48:99:0.539 chr6 169637763 rs9766671 G C 2622.15 PASS BaseQRankSum=1.357;DP=269;Dels=0.00;FS=1.509;HRun=0;HaplotypeScore=23.7835;MQ=54;MQ0=0;MQRankSum=-1.474;QD=9.75;ReadPosRankSum=-2.715;SB=-1653.51;TI=NM_003247;GI=THBS2;FC=Synonymous_S419S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:153,115:268:99:2652,0,3607:54:99:0.429 chr6 169648767 rs12178180 G A 305.52 PASS BaseQRankSum=-0.992;DP=34;Dels=0.00;FS=1.363;HRun=0;HaplotypeScore=4.5210;MQ=56;MQ0=0;MQRankSum=0.142;QD=8.99;ReadPosRankSum=-1.382;SB=-172.85;TI=NM_003247;GI=THBS2;FC=Synonymous_N118N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,13:34:99:336,0,640:56:99:0.382 chr7 286402 . A G 973.96 PASS BaseQRankSum=0.642;DP=69;Dels=0.00;FS=1.987;HRun=0;HaplotypeScore=1.7882;MQ=47;MQ0=0;MQRankSum=1.790;QD=14.12;ReadPosRankSum=0.202;SB=-585.55;TI=NM_020223;GI=FAM20C;FC=Synonymous_T295T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,41:69:99:1004,0,714:47:99:0.594 chr7 296739 rs36156504 G A 1499.42 PASS BaseQRankSum=2.438;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9990;MQ=53;MQ0=0;MQRankSum=1.960;QD=11.81;ReadPosRankSum=-1.589;SB=-920.17;TI=NM_020223;GI=FAM20C;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,64:127:99:1529,0,1538:53:99:0.504 chr7 299850 rs36170987 G T 1139.83 PASS BaseQRankSum=0.529;DP=104;Dels=0.00;FS=2.651;HRun=1;HaplotypeScore=2.5310;MQ=53;MQ0=0;MQRankSum=1.986;QD=10.96;ReadPosRankSum=-0.954;SB=-655.31;TI=NM_020223;GI=FAM20C;FC=Synonymous_V553V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,47:104:99:1170,0,1390:53:99:0.452 chr7 299881 rs36139924 A G 749.26 PASS BaseQRankSum=2.007;DP=73;Dels=0.00;FS=1.974;HRun=2;HaplotypeScore=1.7608;MQ=54;MQ0=0;MQRankSum=2.841;QD=10.26;ReadPosRankSum=-0.506;SB=-474.09;TI=NM_020223;GI=FAM20C;FC=Missense_N564D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,32:73:99:779,0,1027:54:99:0.438 chr7 766708 . G A 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_001164760,NM_001164759,NM_001164758,NM_017802;GI=PRKAR1B,PRKAR1B,PRKAR1B,HEATR2;FC=Silent,Silent,Silent,Synonymous_L117L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chr7 766720 . C T 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_001164760,NM_001164759,NM_001164758,NM_017802;GI=PRKAR1B,PRKAR1B,PRKAR1B,HEATR2;FC=Silent,Silent,Silent,Synonymous_L121L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chr7 766734 . C G 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_001164760,NM_001164759,NM_001164758,NM_017802;GI=PRKAR1B,PRKAR1B,PRKAR1B,HEATR2;FC=Silent,Silent,Silent,Missense_A126G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chr7 780980 rs6943337 T G 3045.02 PASS DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=26.71;SB=-2130.78;TI=NM_017802;GI=HEATR2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:114:99:3078,223,0:55:99:1.000 chr7 810219 rs4720951 T C 4448.23 PASS DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.7334;MQ=53;MQ0=0;QD=27.63;SB=-2860.61;TI=NM_017802;GI=HEATR2;FC=Missense_V632A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,160:161:99:4448,322,0:53:99:1.000 chr7 814788 rs3922641 G A 6898.51 PASS DP=251;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.9917;MQ=55;MQ0=0;QD=27.48;SB=-3933.08;TI=NM_017802;GI=HEATR2;FC=Missense_R743K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,249:251:99:6899,497,0:55:99:1.000 chr7 1023013 rs2272375 C T 1482.11 PASS BaseQRankSum=0.448;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7565;MQ=56;MQ0=0;MQRankSum=1.848;QD=17.04;ReadPosRankSum=0.997;SB=-666.32;TI=NM_017781;GI=CYP2W1;FC=Synonymous_L56L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,56:87:99:1512,0,826:56:99:0.644 chr7 1024581 rs3824081 T C 697.66 PASS BaseQRankSum=1.083;DP=38;Dels=0.00;FS=6.589;HRun=2;HaplotypeScore=5.3097;MQ=55;MQ0=0;MQRankSum=0.298;QD=18.36;ReadPosRankSum=0.738;SB=-307.46;TI=NM_017781;GI=CYP2W1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,26:38:99:728,0,369:55:99:0.684 chr7 2552881 rs34637446 A AGATG 2963.03 PASS BaseQRankSum=-2.227;DP=131;FS=0.000;HRun=0;HaplotypeScore=154.0770;MQ=57;MQ0=0;MQRankSum=1.940;QD=22.62;ReadPosRankSum=0.818;SB=-1298.79;TI=NM_001166355;GI=LFNG;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,54:131:99:3002,0,2558:57:99:0.415 chr7 2559581 . C A 14.91 LowGQX;LowGQ;LowDP DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37;MQ0=0;QD=7.46;SB=-33.44;TI=NM_001166355,NM_002304,NM_001040167,NM_001040168;GI=LFNG,LFNG,LFNG,LFNG;FC=Silent,Silent,Missense_P29Q,Missense_P29Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,2:2:3.01:45,3,0:37:3:1.000 chr7 5330355 rs73051947 G T 38.94 LowVariantFreq;SB BaseQRankSum=1.980;DP=60;Dels=0.00;FS=7.622;HRun=1;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=-4.283;QD=0.65;ReadPosRankSum=-1.911;SB=-0.01;TI=NM_153247,NM_001040661;GI=SLC29A4,SLC29A4;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,7:60:68.94:69,0,1462:51:39:0.117 chr7 5330370 . C G 17.93 LowVariantFreq;SB BaseQRankSum=1.257;DP=76;Dels=0.00;FS=10.550;HRun=1;HaplotypeScore=3.7869;MQ=51;MQ0=0;MQRankSum=-4.347;QD=0.24;ReadPosRankSum=0.269;SB=-0.01;TI=NM_153247,NM_001040661;GI=SLC29A4,SLC29A4;FC=Missense_D59E,Missense_D59E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,7:76:47.86:48,0,1792:51:18:0.092 chr7 5330383 . G A 14.99 LowVariantFreq;SB BaseQRankSum=2.045;DP=78;Dels=0.00;FS=13.576;HRun=1;HaplotypeScore=3.8926;MQ=50;MQ0=0;MQRankSum=-4.353;QD=0.19;ReadPosRankSum=0.787;SB=-0.01;TI=NM_153247,NM_001040661;GI=SLC29A4,SLC29A4;FC=Missense_D64N,Missense_D64N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,7:78:44.85:45,0,1829:50:15:0.090 chr7 6013049 rs1802683 C G 1022.20 PASS BaseQRankSum=2.473;DP=279;Dels=0.00;FS=2.055;HRun=0;HaplotypeScore=8.1250;MQ=28;MQ0=140;MQRankSum=-0.105;QD=3.66;ReadPosRankSum=-1.188;SB=-230.13;TI=NM_000535,NR_003085;GI=PMS2,PMS2;FC=Missense_G857A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:196,83:279:99:1052,0,2642:28:99:0.297 chr7 6026775 rs2228006;rs41534544 T C 2291.00 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59;MQ0=0;QD=35.80;SB=-431.00;TI=NM_000535,NR_003085;GI=PMS2,PMS2;FC=Missense_K541E,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:2324,175,0:59:99:1.000 chr7 6036980 rs1805319;rs2228005 G C 2171.23 PASS DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7876;MQ=47;MQ0=0;QD=30.16;SB=-1223.36;TI=NM_000535,NR_003085;GI=PMS2,PMS2;FC=Synonymous_S260S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:72:99:2204,172,0:47:99:1.000 chr7 6037057 . GA G 67.27 R8 BaseQRankSum=0.076;DP=65;FS=1.003;HRun=17;HaplotypeScore=407.7127;MQ=49;MQ0=0;MQRankSum=0.062;QD=1.03;ReadPosRankSum=0.200;SB=-19.58;TI=NM_000535,NR_003085;GI=PMS2,PMS2;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,10:65:99:106,0,625:49:67:0.227 chr7 8009077 . C A 47.47 LowDP BaseQRankSum=-1.754;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=36;MQ0=0;MQRankSum=0.550;QD=6.78;ReadPosRankSum=1.754;SB=-58.40;TI=NM_138426;GI=GLCCI1;FC=Synonymous_P32P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,4:7:66.17:77,0,66:36:47:0.571 chr7 8125964 rs929509 C T 3918.97 PASS DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=55;MQ0=0;QD=30.15;SB=-2281.24;TI=NM_138426;GI=GLCCI1;FC=Synonymous_S480S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:130:99:3919,286,0:55:99:1.000 chr7 11509561 rs2285744 G C 1299.58 PASS BaseQRankSum=1.200;DP=102;Dels=0.00;FS=1.616;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=-1.167;QD=12.74;ReadPosRankSum=1.227;SB=-798.53;TI=NM_015204;GI=THSD7A;FC=Missense_D771E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,56:102:99:1330,0,1207:50:99:0.549 chr7 11581121 rs47 T C 2124.93 PASS BaseQRankSum=1.633;DP=191;Dels=0.00;FS=5.096;HRun=0;HaplotypeScore=5.6438;MQ=54;MQ0=0;MQRankSum=-1.812;QD=11.13;ReadPosRankSum=-1.675;SB=-1304.48;TI=NM_015204;GI=THSD7A;FC=Missense_N583D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,87:191:99:2155,0,2540:54:99:0.455 chr7 11581134 rs2074603 T C 1731.60 PASS BaseQRankSum=0.974;DP=177;Dels=0.00;FS=5.524;HRun=1;HaplotypeScore=4.5979;MQ=55;MQ0=0;MQRankSum=1.519;QD=9.78;ReadPosRankSum=0.049;SB=-1028.87;TI=NM_015204;GI=THSD7A;FC=Synonymous_A578A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,71:177:99:1762,0,2711:55:99:0.401 chr7 17379110 rs2066853 G A 2456.88 PASS BaseQRankSum=0.735;DP=199;Dels=0.00;FS=1.905;HRun=1;HaplotypeScore=7.5584;MQ=57;MQ0=0;MQRankSum=0.745;QD=12.35;ReadPosRankSum=-0.175;SB=-811.07;TI=NM_001621;GI=AHR;FC=Missense_R554K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,85:199:99:2487,0,3259:57:99:0.427 chr7 18993870 rs2389998 C T 776.70 PASS BaseQRankSum=1.141;DP=68;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.761;QD=11.42;ReadPosRankSum=-0.135;SB=-541.11;TI=NM_178423,NM_058176,NM_178425;GI=HDAC9,HDAC9,HDAC9;FC=Silent,Synonymous_F1010F,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,33:68:99:807,0,871:57:99:0.485 chr7 20824614 rs34908430 C T 355.90 PASS BaseQRankSum=1.602;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.207;QD=11.12;ReadPosRankSum=-0.433;SB=-237.55;TI=NM_198956,NM_182700;GI=SP8,SP8;FC=Synonymous_S256S,Synonymous_S274S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,16:32:99:386,0,394:57:99:0.500 chr7 20824946 . C G 7.61 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-1.985;DP=16;Dels=0.00;FS=3.233;HRun=1;HaplotypeScore=2.4964;MQ=57;MQ0=0;MQRankSum=-2.302;QD=0.48;ReadPosRankSum=-2.302;SB=-0.01;TI=NM_198956,NM_182700;GI=SP8,SP8;FC=Missense_G146R,Missense_G164R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,2:16:36.77:37,0,317:57:8:0.125 chr7 20824952 . C T 3.55 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-1.191;DP=16;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=8.2955;MQ=57;MQ0=0;MQRankSum=-2.302;QD=0.22;ReadPosRankSum=-2.302;SB=-0.01;TI=NM_198956,NM_182700;GI=SP8,SP8;FC=Missense_G144S,Missense_G162S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,2:16:31.01:31,0,301:57:4:0.125 chr7 20824958 . C G 10.22 LowVariantFreq;SB;LowDP BaseQRankSum=-1.369;DP=16;Dels=0.13;FS=3.358;HRun=1;HaplotypeScore=8.2955;MQ=57;MQ0=0;MQRankSum=-2.282;QD=0.64;ReadPosRankSum=-1.917;SB=-0.01;TI=NM_198956,NM_182700;GI=SP8,SP8;FC=Missense_G142R,Missense_G160R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,2:14:39.78:40,0,278:57:10:0.143 chr7 20824967 . C A 7.61 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.425;DP=15;Dels=0.00;FS=3.256;HRun=0;HaplotypeScore=5.7990;MQ=57;MQ0=0;MQRankSum=-2.293;QD=0.51;ReadPosRankSum=-2.293;SB=-0.01;TI=NM_198956,NM_182700;GI=SP8,SP8;FC=Missense_G139C,Missense_G157C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,2:15:36.77:37,0,307:57:8:0.133 chr7 21582963 rs2285943 G T 845.32 PASS BaseQRankSum=-0.667;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.9513;MQ=59;MQ0=0;MQRankSum=-0.841;QD=12.25;ReadPosRankSum=-1.726;SB=-111.85;TI=NM_003777;GI=DNAH11;FC=Nonsense_E34X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,28:69:99:875,0,1189:59:99:0.412 chr7 21582964 rs2285944 A T 742.29 PASS BaseQRankSum=1.357;DP=67;Dels=0.00;FS=6.289;HRun=0;HaplotypeScore=17.9513;MQ=59;MQ0=0;MQRankSum=-0.148;QD=11.08;ReadPosRankSum=-1.396;SB=-19.59;TI=NM_003777;GI=DNAH11;FC=Missense_E34V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,26:67:99:772,0,1223:59:99:0.388 chr7 21599233 rs10950854 C T 1300.27 PASS BaseQRankSum=1.139;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=57;MQ0=0;MQRankSum=1.949;QD=14.29;ReadPosRankSum=1.425;SB=-617.66;TI=NM_003777;GI=DNAH11;FC=Synonymous_N235N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,45:91:99:1330,0,1275:57:99:0.495 chr7 21628197 rs12670130 A G 902.03 PASS BaseQRankSum=3.371;DP=93;Dels=0.00;FS=0.789;HRun=1;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=-0.566;QD=9.70;ReadPosRankSum=-0.574;SB=-642.64;TI=NM_003777;GI=DNAH11;FC=Missense_Q639R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,43:93:99:932,0,1316:53:99:0.462 chr7 21628237 rs6963535 C T 2497.38 PASS DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=30.09;SB=-1016.02;TI=NM_003777;GI=DNAH11;FC=Synonymous_F652F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2530,184,0:53:99:1.000 chr7 21628242 rs62441683 C G 721.50 PASS BaseQRankSum=2.082;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=-1.096;QD=8.91;ReadPosRankSum=0.623;SB=-329.11;TI=NM_003777;GI=DNAH11;FC=Missense_S654C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,32:81:99:751,0,1277:53:99:0.395 chr7 21630982 rs4615458 A G 903.93 PASS BaseQRankSum=-0.200;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=50;MQ0=0;MQRankSum=-1.337;QD=10.39;ReadPosRankSum=-2.110;SB=-675.99;TI=NM_003777;GI=DNAH11;FC=Synonymous_A818A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,43:87:99:934,0,1067:50:99:0.494 chr7 21640361 rs10269582 T C 1765.81 PASS BaseQRankSum=0.899;DP=116;Dels=0.00;FS=0.919;HRun=1;HaplotypeScore=7.2751;MQ=55;MQ0=0;MQRankSum=0.650;QD=15.22;ReadPosRankSum=-1.309;SB=-316.56;TI=NM_003777;GI=DNAH11;FC=Missense_V1023A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,62:116:99:1796,0,1473:55:99:0.534 chr7 21640405 rs10224537 A G 4719.89 PASS DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5658;MQ=56;MQ0=0;QD=30.26;SB=-1671.43;TI=NM_003777;GI=DNAH11;FC=Missense_T1038A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,156:156:99:4720,346,0:56:99:1.000 chr7 21640618 rs17745898 C G 1916.81 PASS BaseQRankSum=2.656;DP=161;Dels=0.00;FS=0.589;HRun=0;HaplotypeScore=6.5765;MQ=56;MQ0=0;MQRankSum=1.939;QD=11.91;ReadPosRankSum=1.171;SB=-1036.33;TI=NM_003777;GI=DNAH11;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,67:161:99:1947,0,2636:56:99:0.416 chr7 21641218 rs3827657 G A 3533.33 PASS DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5356;MQ=59;MQ0=0;QD=34.98;SB=-499.88;TI=NM_003777;GI=DNAH11;FC=Synonymous_Q1210Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:3533,262,0:59:99:1.000 chr7 21659645 rs56029521 T C 2387.12 PASS BaseQRankSum=-1.153;DP=86;Dels=0.00;FS=2.465;HRun=2;HaplotypeScore=6.2586;MQ=56;MQ0=0;MQRankSum=1.789;QD=27.76;ReadPosRankSum=-1.177;SB=-1187.00;TI=NM_003777;GI=DNAH11;FC=Synonymous_I1488I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,83:86:99:2420,104,0:56:99:0.965 chr7 21765452 rs12536928 C T 2526.03 PASS BaseQRankSum=0.225;DP=205;Dels=0.00;FS=7.112;HRun=2;HaplotypeScore=5.4428;MQ=57;MQ0=0;MQRankSum=1.063;QD=12.32;ReadPosRankSum=0.164;SB=-1482.63;TI=NM_003777;GI=DNAH11;FC=Nonsense_Q2438X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,101:205:99:2556,0,2644:57:99:0.495 chr7 21765497 rs11768670 G A 2439.77 PASS BaseQRankSum=-0.410;DP=199;Dels=0.00;FS=5.218;HRun=0;HaplotypeScore=7.9097;MQ=57;MQ0=0;MQRankSum=2.284;QD=12.26;ReadPosRankSum=-0.047;SB=-1301.42;TI=NM_003777;GI=DNAH11;FC=Missense_A2453T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,95:199:99:2470,0,2683:57:99:0.480 chr7 21775443 rs2072221 G A 985.71 PASS DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=31.80;SB=-281.97;TI=NM_003777;GI=DNAH11;FC=Missense_D2550N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,31:31:75.22:1019,75,0:54:75:1.000 chr7 21778449 rs1109806 C T 1211.38 PASS BaseQRankSum=0.660;DP=96;Dels=0.00;FS=1.892;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=0.997;QD=12.62;ReadPosRankSum=-1.422;SB=-486.96;TI=NM_003777;GI=DNAH11;FC=Missense_H2600Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,47:96:99:1241,0,1318:57:99:0.490 chr7 21779278 rs9639393 A G 2943.82 PASS BaseQRankSum=1.724;DP=213;Dels=0.00;FS=1.099;HRun=0;HaplotypeScore=3.7876;MQ=53;MQ0=0;MQRankSum=2.802;QD=13.82;ReadPosRankSum=1.016;SB=-1464.69;TI=NM_003777;GI=DNAH11;FC=Synonymous_Q2641Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,112:213:99:2974,0,2388:53:99:0.526 chr7 21856151 rs2214326 G A 1478.37 PASS BaseQRankSum=0.629;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6080;MQ=56;MQ0=0;MQRankSum=1.686;QD=13.08;ReadPosRankSum=0.744;SB=-854.31;TI=NM_003777;GI=DNAH11;FC=Missense_R3474H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,58:113:99:1508,0,1314:56:99:0.513 chr7 21892074 . G T 14.72 SB BaseQRankSum=-1.820;DP=33;Dels=0.00;FS=9.863;HRun=5;HaplotypeScore=48.3311;MQ=40;MQ0=0;MQRankSum=-0.868;QD=0.45;ReadPosRankSum=-2.715;SB=-0.01;TI=NM_003777;GI=DNAH11;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,6:33:44.56:45,0,512:40:15:0.214 chr7 21893993 rs4722064 G T 852.14 PASS BaseQRankSum=-1.806;DP=74;Dels=0.00;FS=3.317;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.808;QD=11.52;ReadPosRankSum=0.635;SB=-310.17;TI=NM_003777;GI=DNAH11;FC=Missense_S3715I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,34:74:99:882,0,887:53:99:0.459 chr7 21901566 rs4722067 T C 5008.12 PASS DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.7965;MQ=54;MQ0=0;QD=30.17;SB=-2916.30;TI=NM_003777;GI=DNAH11;FC=Missense_C3774R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,166:166:99:5008,367,0:54:99:1.000 chr7 21924014 rs6461613 A G 3046.34 PASS BaseQRankSum=3.895;DP=189;Dels=0.00;FS=5.528;HRun=0;HaplotypeScore=8.2290;MQ=58;MQ0=0;MQRankSum=-0.693;QD=16.12;ReadPosRankSum=1.904;SB=-1433.36;TI=NM_003777;GI=DNAH11;FC=Missense_H4172R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,119:189:99:3076,0,1765:58:99:0.630 chr7 21939032 rs56333627 C A 527.84 PASS BaseQRankSum=2.056;DP=55;Dels=0.00;FS=1.107;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.384;QD=9.60;ReadPosRankSum=0.503;SB=-305.93;TI=NM_003777;GI=DNAH11;FC=Missense_L4384I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,23:55:99:558,0,752:57:99:0.418 chr7 23015831 rs3735231 T C 302.01 PASS BaseQRankSum=1.361;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6778;MQ=55;MQ0=0;MQRankSum=-0.278;QD=7.74;ReadPosRankSum=-0.395;SB=-122.20;TI=NM_032581;GI=FAM126A;FC=Synonymous_S208S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,14:39:99:332,0,658:55:99:0.359 chr7 23164701 rs15775 C T 836.53 PASS BaseQRankSum=1.333;DP=88;Dels=0.00;FS=1.757;HRun=1;HaplotypeScore=2.8936;MQ=53;MQ0=0;MQRankSum=1.110;QD=9.51;ReadPosRankSum=-1.333;SB=-482.45;TI=NM_001172428,NR_033329,NM_001031710,NR_033328,NM_018846;GI=KLHL7,KLHL7,KLHL7,KLHL7,KLHL7;FC=Synonymous_L118L,Silent,Synonymous_L118L,Silent,Synonymous_L70L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,34:88:99:867,0,1278:53:99:0.386 chr7 24325009 rs5573 G A 5688.61 PASS BaseQRankSum=1.697;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1122;MQ=53;MQ0=0;MQRankSum=1.697;QD=28.73;ReadPosRankSum=-0.962;SB=-3417.22;TI=NM_000905;GI=NPY;FC=Synonymous_S50S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,197:198:99:5689,412,0:53:99:0.995 chr7 24329133 rs5574 C T 1863.90 PASS DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=25.19;SB=-1372.54;TI=NM_000905;GI=NPY;FC=Synonymous_S68S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:74:99:1897,135,0:55:99:1.000 chr7 24703298 rs1053962 G A 2615.16 PASS BaseQRankSum=0.918;DP=189;Dels=0.00;FS=8.696;HRun=1;HaplotypeScore=4.4704;MQ=54;MQ0=0;MQRankSum=-0.093;QD=13.84;ReadPosRankSum=1.458;SB=-1740.84;TI=NM_016447;GI=MPP6;FC=Synonymous_E247E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,108:189:99:2645,0,2024:54:99:0.571 chr7 24758795 rs876305 T C 1986.64 PASS BaseQRankSum=1.451;DP=162;Dels=0.00;FS=0.580;HRun=2;HaplotypeScore=2.7880;MQ=54;MQ0=0;MQRankSum=0.624;QD=12.26;ReadPosRankSum=-0.661;SB=-1444.06;TI=NM_001127453,NM_004403,NM_001127454;GI=DFNA5,DFNA5,DFNA5;FC=Synonymous_E149E,Synonymous_E149E,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,88:162:99:2017,0,1735:54:99:0.543 chr7 27135314 rs10951154 C T 934.51 PASS BaseQRankSum=-0.828;DP=90;Dels=0.00;FS=0.826;HRun=0;HaplotypeScore=11.5107;MQ=57;MQ0=0;MQRankSum=0.484;QD=10.38;ReadPosRankSum=0.992;SB=-445.25;TI=NM_005522,NM_153620;GI=HOXA1,HOXA1;FC=Missense_R73H,Missense_R73H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,37:90:99:965,0,1309:57:99:0.411 chr7 27169093 rs2158218 T G 545.15 PASS BaseQRankSum=1.917;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60;MQ0=0;MQRankSum=1.683;QD=15.58;ReadPosRankSum=-0.350;SB=-175.51;TI=NM_002141;GI=HOXA4;FC=Synonymous_R238R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,20:35:99:575,0,362:60:99:0.571 chr7 27170145 rs6944345 T G 370.42 PASS BaseQRankSum=-0.415;DP=30;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.4870;MQ=57;MQ0=0;MQRankSum=0.249;QD=12.35;ReadPosRankSum=1.742;SB=-62.76;TI=NM_002141;GI=HOXA4;FC=Missense_T70P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,15:30:99:400,0,417:57:99:0.500 chr7 27210581 rs77547662;rs78784861 C A 298.36 LowVariantFreq BaseQRankSum=1.806;DP=277;Dels=0.00;FS=11.432;HRun=10;HaplotypeScore=56.1761;MQ=53;MQ0=0;MQRankSum=-2.078;QD=1.08;ReadPosRankSum=-0.552;SB=-110.44;TI=NM_018951,NM_153715;GI=HOXA10,HOXA10;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:241,36:277:99:328,0,6306:53:99:0.130 chr7 27239292 . G A 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_000522;GI=HOXA13;FC=Synonymous_S135S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chr7 27239512 . G A 5.92 LowGQX;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.804;QD=2.96;ReadPosRankSum=0.804;SB=-0.01;TI=NM_000522;GI=HOXA13;FC=Missense_A62V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:34.63:35,0,35:60:6:0.500 chr7 28996220 rs1006521 G A 503.21 PASS BaseQRankSum=0.464;DP=39;Dels=0.00;FS=3.053;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=-0.604;QD=12.90;ReadPosRankSum=1.335;SB=-232.80;TI=NM_014817;GI=TRIL;FC=Synonymous_A481A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,19:39:99:533,0,639:58:99:0.487 chr7 28996944 rs740250 T C 1979.09 PASS BaseQRankSum=1.352;DP=135;Dels=0.00;FS=3.205;HRun=0;HaplotypeScore=11.7565;MQ=56;MQ0=0;MQRankSum=3.365;QD=14.66;ReadPosRankSum=0.185;SB=-1026.79;TI=NM_014817;GI=TRIL;FC=Missense_N240S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,70:135:99:2009,0,1698:56:99:0.522 chr7 28997497 rs67715783 GC G 9399.80 PASS DP=225;FS=0.000;HRun=2;HaplotypeScore=235.1574;MQ=53;MQ0=0;QD=41.78;SB=-4529.47;TI=NM_014817;GI=TRIL;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,220:225:99:9400,668,0:53:99:0.978 chr7 28997596 rs79480773 G GC 5924.93 PASS DP=144;FS=0.000;HRun=1;HaplotypeScore=251.4723;MQ=54;MQ0=0;QD=41.15;SB=-1750.25;TI=NM_014817;GI=TRIL;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:15,129:144:99:5925,427,0:54:99:0.896 chr7 30634530 . G A 3.08 LowGQX;LowVariantFreq;SB BaseQRankSum=0.709;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=55;MQ0=0;MQRankSum=-0.273;QD=0.13;ReadPosRankSum=0.818;SB=-0.01;TI=NM_002047;GI=GARS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,2:23:30.12:30,0,575:55:3:0.087 chr7 30791848 rs4723010 G A 3390.29 PASS BaseQRankSum=0.449;DP=251;Dels=0.00;FS=0.465;HRun=1;HaplotypeScore=5.6816;MQ=55;MQ0=0;MQRankSum=2.094;QD=13.51;ReadPosRankSum=-2.163;SB=-2194.34;TI=NM_006774,NM_001199219,NR_037598;GI=INMT,INMT,INMT-FAM188B;FC=Missense_D28N,Missense_D28N,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,139:251:99:3390,0,2568:55:99:0.554 chr7 30795119 rs34640571 G A 978.14 PASS BaseQRankSum=0.266;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6504;MQ=56;MQ0=0;MQRankSum=0.912;QD=13.59;ReadPosRankSum=-1.683;SB=-619.75;TI=NM_006774,NM_001199219,NR_037598;GI=INMT,INMT,INMT-FAM188B;FC=Synonymous_P148P,Synonymous_P147P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,40:72:99:1008,0,828:56:99:0.556 chr7 30795288 rs2302339 A G 2765.40 PASS BaseQRankSum=2.479;DP=233;Dels=0.00;FS=1.020;HRun=0;HaplotypeScore=9.9204;MQ=52;MQ0=0;MQRankSum=1.805;QD=11.87;ReadPosRankSum=-0.158;SB=-1701.36;TI=NM_006774,NM_001199219,NR_037598;GI=INMT,INMT,INMT-FAM188B;FC=Missense_M205V,Missense_M204V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,117:233:99:2795,0,2677:52:99:0.502 chr7 30795331 rs2302340 A G 2427.32 PASS BaseQRankSum=3.078;DP=210;Dels=0.00;FS=2.372;HRun=2;HaplotypeScore=6.3644;MQ=54;MQ0=0;MQRankSum=2.219;QD=11.56;ReadPosRankSum=-2.185;SB=-1598.02;TI=NM_006774,NM_001199219,NR_037598;GI=INMT,INMT,INMT-FAM188B;FC=Missense_E219G,Missense_E218G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,103:210:99:2457,0,2431:54:99:0.490 chr7 30795436 rs4720015 T G 6787.33 PASS DP=255;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8019;MQ=51;MQ0=0;QD=26.62;SB=-4476.41;TI=NM_006774,NM_001199219,NR_037598;GI=INMT,INMT,INMT-FAM188B;FC=Missense_F254C,Missense_F253C,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,255:255:99:6787,485,0:51:99:1.000 chr7 33060946 rs3750117 A G 1116.52 PASS BaseQRankSum=0.870;DP=97;Dels=0.00;FS=11.734;HRun=0;HaplotypeScore=0.9995;MQ=53;MQ0=0;MQRankSum=0.920;QD=11.51;ReadPosRankSum=-0.119;SB=-546.94;TI=NM_001166118,NM_016489,NR_029372,NM_001002010;GI=NT5C3,NT5C3,NT5C3,NT5C3;FC=Synonymous_Y80Y,Synonymous_Y92Y,Silent,Synonymous_Y131Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,47:97:99:1147,0,1235:53:99:0.485 chr7 33136983 rs6462460 G A 1769.44 PASS DP=61;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=29.01;SB=-1117.50;TI=NM_203288;GI=RP9;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1802,129,0:55:99:1.000 chr7 33397476 rs34218557 G A 703.44 PASS BaseQRankSum=0.184;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7874;MQ=58;MQ0=0;MQRankSum=1.290;QD=12.34;ReadPosRankSum=0.088;SB=-381.98;TI=NM_001033605,NM_001033604,NM_198428,NM_014451;GI=BBS9,BBS9,BBS9,BBS9;FC=Missense_R516Q,Missense_R486Q,Missense_R521Q,Missense_R481Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,31:57:99:733,0,684:58:99:0.544 chr7 33545175 . C T 2082.70 PASS BaseQRankSum=-0.593;DP=187;Dels=0.00;FS=2.599;HRun=0;HaplotypeScore=12.1698;MQ=54;MQ0=0;MQRankSum=2.127;QD=11.14;ReadPosRankSum=0.519;SB=-1361.77;TI=NM_001033605,NM_001033604,NM_198428,NM_014451;GI=BBS9,BBS9,BBS9,BBS9;FC=Missense_A734V,Missense_A704V,Missense_A739V,Missense_A699V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,86:187:99:2113,0,2529:54:99:0.465 chr7 34009946 rs10265207 C T 2375.05 PASS BaseQRankSum=-1.299;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=49;MQ0=0;MQRankSum=-1.516;QD=24.74;ReadPosRankSum=-1.516;SB=-1769.28;TI=NM_133468;GI=BMPER;FC=Synonymous_G136G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,95:96:99:2408,137,0:49:99:0.990 chr7 34192762 rs6968741 G C 4012.32 PASS DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=28.66;SB=-2148.19;TI=NM_133468;GI=BMPER;FC=Synonymous_T645T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,140:140:99:4012,289,0:51:99:1.000 chr7 34818113 rs324981 A T 1037.37 PASS BaseQRankSum=0.746;DP=82;Dels=0.00;FS=0.831;HRun=2;HaplotypeScore=2.6274;MQ=51;MQ0=0;MQRankSum=-0.623;QD=12.65;ReadPosRankSum=1.544;SB=-731.02;TI=NM_207172,NM_207173,NR_015356;GI=NPSR1,NPSR1,AAA1;FC=Missense_N107I,Missense_N107I,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,45:82:99:1067,0,909:51:99:0.556 chr7 34851393 rs9655357 C G 2497.36 PASS BaseQRankSum=2.162;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5213;MQ=49;MQ0=0;MQRankSum=1.294;QD=16.01;ReadPosRankSum=1.220;SB=-1849.41;TI=NM_207172,NM_207173,NR_015356;GI=NPSR1,NPSR1,AAA1;FC=Synonymous_L132L,Synonymous_L132L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,108:155:99:2527,0,966:49:99:0.697 chr7 34874038 rs727162 C G 2115.25 PASS BaseQRankSum=1.109;DP=171;Dels=0.00;FS=0.566;HRun=1;HaplotypeScore=6.3329;MQ=53;MQ0=0;MQRankSum=-0.231;QD=12.37;ReadPosRankSum=-0.268;SB=-1484.17;TI=NM_207172,NM_207173;GI=NPSR1,NPSR1;FC=Missense_S241R,Missense_S241R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,93:171:99:2145,0,1931:53:99:0.544 chr7 35293193 rs336283 A G 3586.76 PASS DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=55;MQ0=0;QD=29.16;SB=-2144.29;TI=NM_001077653,NM_001166220;GI=TBX20,TBX20;FC=Synonymous_S13S,Synonymous_S13S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:3587,259,0:55:99:1.000 chr7 36552729 . A AT 5511.54 PASS DP=146;FS=0.000;HRun=3;HaplotypeScore=307.4126;MQ=49;MQ0=0;QD=37.75;SB=-2514.46;TI=NM_001177507,NM_001177506,NM_001637;GI=AOAH,AOAH,AOAH;FC=Noncoding,Frameshift,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,139:146:99:5512,424,0:49:99:0.965 chr7 36552790 . G GT 3837.78 PASS DP=133;FS=0.000;HRun=2;HaplotypeScore=441.6646;MQ=47;MQ0=0;QD=28.86;SB=-1690.96;TI=NM_001177507,NM_001177506,NM_001637;GI=AOAH,AOAH,AOAH;FC=Noncoding,Frameshift,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:8,91:133:99:3838,286,0:47:99:0.919 chr7 36763646 rs11546522 C T 450.93 PASS BaseQRankSum=-1.416;DP=53;Dels=0.00;FS=1.047;HRun=2;HaplotypeScore=0.0000;MQ=45;MQ0=0;MQRankSum=-1.612;QD=8.51;ReadPosRankSum=0.829;SB=-393.46;TI=NM_001177507,NM_001177506,NM_001637;GI=AOAH,AOAH,AOAH;FC=Synonymous_S36S,Synonymous_S36S,Synonymous_S36S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,25:53:99:481,0,709:45:99:0.472 chr7 36763688 rs2228411 C T 874.25 PASS BaseQRankSum=0.688;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=46;MQ0=0;MQRankSum=-1.063;QD=10.93;ReadPosRankSum=-0.188;SB=-609.90;TI=NM_001177507,NM_001177506,NM_001637;GI=AOAH,AOAH,AOAH;FC=Synonymous_S22S,Synonymous_S22S,Synonymous_S22S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,40:80:99:904,0,919:46:99:0.500 chr7 37890267 rs2722372 G A 2610.55 PASS DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=29.67;SB=-1468.08;TI=NM_016616;GI=TXNDC3;FC=Missense_R43K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2644,190,0:55:99:1.000 chr7 37890316 rs2598044 C T 2701.46 PASS DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.05;SB=-1853.78;TI=NM_016616;GI=TXNDC3;FC=Synonymous_D59D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:93:99:2734,196,0:56:99:1.000 chr7 37896896 rs3213976 G A 1106.18 PASS BaseQRankSum=1.248;DP=88;Dels=0.00;FS=2.832;HRun=1;HaplotypeScore=1.8939;MQ=53;MQ0=0;MQRankSum=1.940;QD=12.57;ReadPosRankSum=0.171;SB=-584.07;TI=NM_016616;GI=TXNDC3;FC=Synonymous_V73V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,44:88:99:1136,0,1078:53:99:0.500 chr7 37907304 rs10250905 T C 3591.80 PASS BaseQRankSum=0.434;DP=229;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5758;MQ=56;MQ0=0;MQRankSum=0.031;QD=15.68;ReadPosRankSum=0.745;SB=-1285.82;TI=NM_016616;GI=TXNDC3;FC=Missense_C208R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,131:229:99:3592,0,2551:56:99:0.572 chr7 37916455 rs62001868 A G 888.46 PASS BaseQRankSum=0.195;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=2.119;QD=12.01;ReadPosRankSum=1.719;SB=-464.62;TI=NM_016616;GI=TXNDC3;FC=Synonymous_R280R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,37:74:99:918,0,926:53:99:0.500 chr7 37924737 rs1530822 T G 1045.20 PASS BaseQRankSum=-0.537;DP=77;Dels=0.00;FS=0.876;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=-1.130;QD=13.57;ReadPosRankSum=-0.353;SB=-569.98;TI=NM_016616;GI=TXNDC3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,42:77:99:1075,0,787:53:99:0.545 chr7 37936530 rs3213975 T C 2383.91 PASS BaseQRankSum=1.795;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4399;MQ=54;MQ0=0;MQRankSum=-0.077;QD=11.14;ReadPosRankSum=-0.374;SB=-1280.83;TI=NM_016616;GI=TXNDC3;FC=Synonymous_L535L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,96:214:99:2414,0,2978:54:99:0.449 chr7 39379325 rs2074936 C T 551.31 PASS BaseQRankSum=-0.517;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8845;MQ=56;MQ0=0;MQRankSum=0.577;QD=14.51;ReadPosRankSum=-0.340;SB=-131.26;TI=NM_001166018,NM_007252;GI=POU6F2,POU6F2;FC=Missense_P199L,Missense_P199L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,22:38:99:581,0,414:56:99:0.579 chr7 39472669 rs2302125 C T 577.66 PASS BaseQRankSum=1.329;DP=61;Dels=0.00;FS=16.050;HRun=2;HaplotypeScore=0.9998;MQ=56;MQ0=0;MQRankSum=1.029;QD=9.47;ReadPosRankSum=1.269;SB=-51.06;TI=NM_001166018,NM_007252;GI=POU6F2,POU6F2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,22:61:99:608,0,895:56:99:0.361 chr7 39472708 rs2302123 A G 828.59 PASS BaseQRankSum=-0.845;DP=88;Dels=0.00;FS=4.351;HRun=3;HaplotypeScore=7.3040;MQ=55;MQ0=0;MQRankSum=0.854;QD=9.42;ReadPosRankSum=-1.826;SB=-339.63;TI=NM_001166018,NM_007252;GI=POU6F2,POU6F2;FC=Synonymous_P353P,Synonymous_P353P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,37:88:99:859,0,1170:55:99:0.420 chr7 39472846 rs2302122 G A 1202.03 PASS BaseQRankSum=0.514;DP=75;Dels=0.00;FS=3.278;HRun=1;HaplotypeScore=5.7872;MQ=54;MQ0=0;MQRankSum=-0.438;QD=16.03;ReadPosRankSum=-1.130;SB=-510.24;TI=NM_001166018,NM_007252;GI=POU6F2,POU6F2;FC=Synonymous_Q399Q,Synonymous_Q399Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,45:75:99:1232,0,676:54:99:0.600 chr7 40314243 rs4637704 A G 936.66 PASS BaseQRankSum=1.195;DP=95;Dels=0.00;FS=0.785;HRun=0;HaplotypeScore=4.7824;MQ=52;MQ0=0;MQRankSum=0.761;QD=9.86;ReadPosRankSum=-1.120;SB=-579.94;TI=NM_001193311,NM_024728,NM_001193313,NM_001193312;GI=C7orf10,C7orf10,C7orf10,C7orf10;FC=Synonymous_L243L,Synonymous_L206L,Synonymous_L243L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,42:95:99:967,0,1182:52:99:0.442 chr7 40899967 rs2010706 G C 1266.41 PASS BaseQRankSum=2.964;DP=122;Dels=0.01;FS=0.000;HRun=5;HaplotypeScore=7.5897;MQ=48;MQ0=0;MQRankSum=-1.465;QD=10.38;ReadPosRankSum=-2.108;SB=-857.69;TI=NM_001193311,NM_024728,NM_001193313,NM_001193312;GI=C7orf10,C7orf10,C7orf10,C7orf10;FC=Synonymous_P435P,Synonymous_P398P,Synonymous_P409P,Synonymous_P361P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,58:121:99:1296,0,1406:48:99:0.487 chr7 42004129 . G T 2422.66 PASS BaseQRankSum=0.513;DP=196;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=28.1039;MQ=57;MQ0=0;MQRankSum=0.198;QD=12.36;ReadPosRankSum=0.344;SB=-855.48;TI=NM_000168;GI=GLI3;FC=Missense_D1514E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,94:196:99:2453,0,2794:57:99:0.480 chr7 42005678 rs929387 G A 460.04 PASS BaseQRankSum=0.775;DP=39;Dels=0.00;FS=1.288;HRun=0;HaplotypeScore=4.2846;MQ=55;MQ0=0;MQRankSum=-0.662;QD=11.80;ReadPosRankSum=-0.408;SB=-208.94;TI=NM_000168;GI=GLI3;FC=Missense_P998L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,18:39:99:490,0,567:55:99:0.462 chr7 42064852 rs846273 C G 2415.28 PASS BaseQRankSum=1.622;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.0194;MQ=54;MQ0=0;MQRankSum=-0.700;QD=25.69;ReadPosRankSum=-0.516;SB=-1528.86;TI=NM_000168;GI=GLI3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,93:94:99:2448,175,0:54:99:0.989 chr7 42088222 rs846266 T C 1294.41 PASS BaseQRankSum=2.392;DP=124;Dels=0.00;FS=1.448;HRun=0;HaplotypeScore=7.0156;MQ=52;MQ0=0;MQRankSum=1.197;QD=10.44;ReadPosRankSum=1.091;SB=-801.35;TI=NM_000168;GI=GLI3;FC=Missense_T183A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,59:124:99:1324,0,1466:52:99:0.480 chr7 43810764 rs699512 G A 2550.67 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=28.66;SB=-1530.48;TI=NM_000712;GI=BLVRA;FC=Missense_A3T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2584,187,0:56:99:1.000 chr7 43846603 rs7738 A G 1228.81 PASS BaseQRankSum=0.786;DP=98;Dels=0.00;FS=6.647;HRun=2;HaplotypeScore=1.9971;MQ=58;MQ0=0;MQRankSum=-0.334;QD=12.54;ReadPosRankSum=0.427;SB=-181.77;TI=NM_000712;GI=BLVRA;FC=Synonymous_G220G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,42:98:99:1259,0,1527:58:99:0.429 chr7 44555406 rs10264715 G A 1151.36 PASS BaseQRankSum=0.755;DP=96;Dels=0.00;FS=2.745;HRun=0;HaplotypeScore=2.9807;MQ=54;MQ0=0;MQRankSum=0.674;QD=11.99;ReadPosRankSum=-1.180;SB=-686.91;TI=NM_001101648,NM_013389;GI=NPC1L1,NPC1L1;FC=Synonymous_Y1264Y,Synonymous_Y1291Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,47:96:99:1181,0,1164:54:99:0.490 chr7 44555573 rs217428 T G 716.56 PASS BaseQRankSum=2.922;DP=54;Dels=0.02;FS=1.070;HRun=6;HaplotypeScore=8.3123;MQ=59;MQ0=0;MQRankSum=0.652;QD=13.27;ReadPosRankSum=-0.849;SB=-378.06;TI=NM_001101648,NM_013389;GI=NPC1L1,NPC1L1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,29:53:99:747,0,671:59:99:0.547 chr7 44558268 . CA C 56.43 LowVariantFreq;R8 BaseQRankSum=-1.462;DP=47;FS=0.000;HRun=15;HaplotypeScore=162.1111;MQ=51;MQ0=1;MQRankSum=0.988;QD=1.20;ReadPosRankSum=0.543;SB=-43.76;TI=NM_001101648,NM_013389;GI=NPC1L1,NPC1L1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,7:46:95.46:95,0,511:51:56:0.184 chr7 44579180 rs2072183 G C 1589.78 PASS BaseQRankSum=-0.003;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.8898;MQ=55;MQ0=0;MQRankSum=1.358;QD=12.93;ReadPosRankSum=-3.331;SB=-864.43;TI=NM_001101648,NM_013389;GI=NPC1L1,NPC1L1;FC=Synonymous_L272L,Synonymous_L272L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,61:123:99:1620,0,1545:55:99:0.496 chr7 45113170 rs2289367 G A 2114.08 PASS BaseQRankSum=0.369;DP=175;Dels=0.00;FS=1.255;HRun=0;HaplotypeScore=17.3147;MQ=55;MQ0=0;MQRankSum=2.144;QD=12.08;ReadPosRankSum=-1.144;SB=-1034.50;TI=NR_030770,NM_031443,NM_001167935,NM_001167934,NM_001029835;GI=CCM2,CCM2,CCM2,CCM2,CCM2;FC=Silent,Synonymous_T305T,Synonymous_T214T,Synonymous_T247T,Synonymous_T326T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,83:175:99:2144,0,2312:55:99:0.480 chr7 45115773 rs7804 T C 776.55 PASS BaseQRankSum=-1.093;DP=98;Dels=0.00;FS=1.736;HRun=0;HaplotypeScore=8.6070;MQ=54;MQ0=0;MQRankSum=0.312;QD=7.92;ReadPosRankSum=-0.545;SB=-416.79;TI=NR_030770,NM_031443,NM_001167935,NM_001167934,NM_001029835;GI=CCM2,CCM2,CCM2,CCM2,CCM2;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,35:98:99:807,0,1575:54:99:0.361 chr7 45960645 rs2854746 G C 827.77 PASS BaseQRankSum=2.046;DP=53;Dels=0.00;FS=8.687;HRun=3;HaplotypeScore=5.1950;MQ=52;MQ0=0;MQRankSum=-2.835;QD=15.62;ReadPosRankSum=0.193;SB=-456.37;TI=NM_001013398,NM_000598;GI=IGFBP3,IGFBP3;FC=Missense_A32G,Missense_A32G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,33:53:99:858,0,521:52:99:0.623 chr7 47323456 rs3750164 A G 2725.48 PASS BaseQRankSum=2.324;DP=201;Dels=0.00;FS=2.534;HRun=0;HaplotypeScore=7.2938;MQ=56;MQ0=0;MQRankSum=0.890;QD=13.56;ReadPosRankSum=-0.716;SB=-1648.92;TI=NM_022748;GI=TNS3;FC=Synonymous_N1312N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,114:201:99:2755,0,2027:56:99:0.567 chr7 47343083 rs3807589 C T 2936.99 PASS BaseQRankSum=-0.093;DP=261;Dels=0.00;FS=12.096;HRun=1;HaplotypeScore=7.3493;MQ=54;MQ0=0;MQRankSum=0.605;QD=11.25;ReadPosRankSum=0.518;SB=-1671.92;TI=NM_022748;GI=TNS3;FC=Synonymous_E974E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:135,126:261:99:2967,0,3242:54:99:0.483 chr7 47408029 rs2255744 A G 1250.99 PASS BaseQRankSum=-0.540;DP=95;Dels=0.00;FS=0.772;HRun=0;HaplotypeScore=2.8660;MQ=54;MQ0=0;MQRankSum=0.384;QD=13.17;ReadPosRankSum=-0.198;SB=-747.19;TI=NM_022748;GI=TNS3;FC=Synonymous_G738G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,50:95:99:1281,0,1088:54:99:0.526 chr7 47408974 rs1534136 T A 3155.29 PASS BaseQRankSum=1.652;DP=242;Dels=0.00;FS=1.590;HRun=0;HaplotypeScore=20.3925;MQ=57;MQ0=0;MQRankSum=0.247;QD=13.04;ReadPosRankSum=0.313;SB=-1713.99;TI=NM_022748;GI=TNS3;FC=Synonymous_A423A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,124:242:99:3185,0,3248:57:99:0.512 chr7 47840310 . C G 1739.77 PASS BaseQRankSum=-0.197;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3848;MQ=56;MQ0=0;MQRankSum=1.306;QD=11.08;ReadPosRankSum=0.336;SB=-1061.09;TI=NM_138295,NM_025031;GI=PKD1L1,C7orf69;FC=Missense_Q2710H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,72:157:99:1770,0,2004:56:99:0.462 chr7 47872845 rs921634 A G 2459.83 PASS BaseQRankSum=0.934;DP=191;Dels=0.00;FS=1.818;HRun=2;HaplotypeScore=6.5300;MQ=55;MQ0=0;MQRankSum=2.520;QD=12.88;ReadPosRankSum=-1.049;SB=-1364.60;TI=NM_138295;GI=PKD1L1;FC=Synonymous_P2060P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,103:191:99:2490,0,2066:55:99:0.539 chr7 47913560 rs78833972 G T 1006.27 PASS BaseQRankSum=1.465;DP=90;Dels=0.00;FS=1.705;HRun=0;HaplotypeScore=1.7882;MQ=48;MQ0=0;MQRankSum=-0.593;QD=11.18;ReadPosRankSum=-0.044;SB=-628.61;TI=NM_138295;GI=PKD1L1;FC=Missense_P1278Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,44:90:99:1036,0,1090:48:99:0.489 chr7 47913579 rs1470859 T C 2102.69 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=49;MQ0=0;QD=27.31;SB=-1369.62;TI=NM_138295;GI=PKD1L1;FC=Missense_K1272E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2136,153,0:49:99:1.000 chr7 47913580 rs73105162 G A 855.50 PASS BaseQRankSum=1.544;DP=77;Dels=0.00;FS=0.859;HRun=0;HaplotypeScore=1.7882;MQ=49;MQ0=0;MQRankSum=-0.443;QD=11.11;ReadPosRankSum=-2.165;SB=-538.79;TI=NM_138295;GI=PKD1L1;FC=Synonymous_G1271G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,38:77:99:885,0,942:49:99:0.494 chr7 47913615 rs17131867 G A 566.60 PASS BaseQRankSum=0.911;DP=61;Dels=0.00;FS=2.151;HRun=1;HaplotypeScore=3.6819;MQ=51;MQ0=0;MQRankSum=-0.284;QD=9.29;ReadPosRankSum=0.372;SB=-354.02;TI=NM_138295;GI=PKD1L1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,26:61:99:597,0,840:51:99:0.426 chr7 47920345 rs62447081 G A 1709.04 PASS BaseQRankSum=2.976;DP=170;Dels=0.00;FS=0.569;HRun=0;HaplotypeScore=0.8941;MQ=49;MQ0=0;MQRankSum=1.014;QD=10.05;ReadPosRankSum=-0.171;SB=-1388.19;TI=NM_138295;GI=PKD1L1;FC=Synonymous_Y1167Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,85:170:99:1739,0,2117:49:99:0.503 chr7 47925331 rs10274334 C G 1525.68 PASS BaseQRankSum=2.535;DP=163;Dels=0.00;FS=11.646;HRun=2;HaplotypeScore=20.0653;MQ=54;MQ0=0;MQRankSum=2.969;QD=9.36;ReadPosRankSum=1.644;SB=-975.35;TI=NM_138295;GI=PKD1L1;FC=Missense_R1053P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,65:163:99:1556,0,2429:54:99:0.401 chr7 48285485 rs1880738 C T 2436.58 PASS BaseQRankSum=3.151;DP=233;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.5787;MQ=57;MQ0=0;MQRankSum=-0.409;QD=10.46;ReadPosRankSum=0.334;SB=-1537.33;TI=NM_152701;GI=ABCA13;FC=Missense_P506L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:132,101:233:99:2467,0,3507:57:99:0.433 chr7 48287840 rs2361519 G A 669.12 PASS BaseQRankSum=0.798;DP=52;Dels=0.00;FS=2.464;HRun=0;HaplotypeScore=0.9998;MQ=56;MQ0=0;MQRankSum=1.111;QD=12.87;ReadPosRankSum=0.211;SB=-385.60;TI=NM_152701;GI=ABCA13;FC=Missense_R555H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,28:52:99:699,0,605:56:99:0.538 chr7 48311563 rs17712293 T G 2499.18 PASS BaseQRankSum=1.236;DP=181;Dels=0.00;FS=0.583;HRun=0;HaplotypeScore=4.6767;MQ=57;MQ0=0;MQRankSum=1.330;QD=13.81;ReadPosRankSum=-0.439;SB=-1070.46;TI=NM_152701;GI=ABCA13;FC=Missense_I767S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,93:181:99:2529,0,2243:57:99:0.514 chr7 48312674 rs1358066 G A 3734.28 PASS BaseQRankSum=-0.196;DP=266;Dels=0.00;FS=2.053;HRun=0;HaplotypeScore=1.8939;MQ=56;MQ0=0;MQRankSum=0.613;QD=14.04;ReadPosRankSum=-0.794;SB=-2230.48;TI=NM_152701;GI=ABCA13;FC=Synonymous_V1137V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,141:266:99:3734,0,3317:56:99:0.530 chr7 48313949 rs6583483 C T 1497.40 PASS BaseQRankSum=1.439;DP=112;Dels=0.00;FS=4.716;HRun=3;HaplotypeScore=7.2584;MQ=56;MQ0=0;MQRankSum=1.305;QD=13.37;ReadPosRankSum=0.490;SB=-829.26;TI=NM_152701;GI=ABCA13;FC=Synonymous_Y1562Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,53:112:99:1527,0,1711:56:99:0.473 chr7 48314279 rs6955212 G A 4443.67 PASS BaseQRankSum=1.191;DP=357;Dels=0.00;FS=4.849;HRun=2;HaplotypeScore=8.1251;MQ=55;MQ0=0;MQRankSum=3.059;QD=12.45;ReadPosRankSum=-0.763;SB=-1920.11;TI=NM_152701;GI=ABCA13;FC=Synonymous_K1672K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:194,163:357:99:4444,0,5202:55:99:0.457 chr7 48315796 rs1880736 C A 1864.02 PASS DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4377;MQ=56;MQ0=0;QD=31.59;SB=-973.53;TI=NM_152701;GI=ABCA13;FC=Missense_A2178E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:59:99:1897,144,0:56:99:1.000 chr7 48318811 rs2222648 C T 8554.38 PASS DP=261;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=57;MQ0=0;QD=32.78;SB=-3914.16;TI=NM_152701;GI=ABCA13;FC=Missense_R2674W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,261:261:99:8554,629,0:57:99:1.000 chr7 48336844 rs6583546 C T 1555.25 PASS BaseQRankSum=0.901;DP=59;Dels=0.00;FS=2.982;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=-0.565;QD=26.36;ReadPosRankSum=0.398;SB=-998.45;TI=NM_152701;GI=ABCA13;FC=Synonymous_L3045L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,57:59:46.45:1588,46,0:54:46:0.966 chr7 48427501 rs61737756 G A 1455.09 PASS BaseQRankSum=3.076;DP=128;Dels=0.00;FS=1.436;HRun=0;HaplotypeScore=2.6823;MQ=52;MQ0=0;MQRankSum=1.122;QD=11.37;ReadPosRankSum=0.536;SB=-955.76;TI=NM_152701;GI=ABCA13;FC=Synonymous_R3806R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,64:128:99:1485,0,1413:52:99:0.500 chr7 48428715 rs17132289 A T 2537.21 PASS BaseQRankSum=2.799;DP=184;Dels=0.00;FS=1.833;HRun=1;HaplotypeScore=2.7829;MQ=52;MQ0=0;MQRankSum=1.253;QD=13.79;ReadPosRankSum=-0.137;SB=-1717.41;TI=NM_152701;GI=ABCA13;FC=Missense_Y3851F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,105:184:99:2567,0,1866:52:99:0.571 chr7 48450157 rs17548783 T C 3276.26 PASS DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=50;MQ0=0;QD=26.00;SB=-2486.89;TI=NM_152701;GI=ABCA13;FC=Synonymous_A4037A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:3276,229,0:50:99:1.000 chr7 48451939 rs1865195 T C 795.40 PASS BaseQRankSum=-1.894;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=-0.303;QD=8.84;ReadPosRankSum=-0.377;SB=-552.58;TI=NM_152701;GI=ABCA13;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,37:90:99:825,0,1149:58:99:0.411 chr7 48467355 rs13233421 T C 1158.40 PASS BaseQRankSum=1.621;DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4422;MQ=52;MQ0=0;MQRankSum=3.329;QD=11.70;ReadPosRankSum=0.347;SB=-799.59;TI=NM_152701;GI=ABCA13;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,48:99:99:1188,0,1187:52:99:0.485 chr7 48506566 rs4917152 A G 693.92 PASS BaseQRankSum=1.203;DP=73;Dels=0.00;FS=1.933;HRun=0;HaplotypeScore=4.7855;MQ=54;MQ0=0;MQRankSum=1.546;QD=9.51;ReadPosRankSum=-2.089;SB=-441.27;TI=NM_152701;GI=ABCA13;FC=Missense_N4277D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,33:73:99:724,0,952:54:99:0.452 chr7 48506642 rs4917153 A G 814.79 PASS BaseQRankSum=0.999;DP=83;Dels=0.00;FS=1.782;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-2.194;QD=9.82;ReadPosRankSum=-0.105;SB=-550.16;TI=NM_152701;GI=ABCA13;FC=Unknown_4302;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,39:83:99:845,0,1152:52:99:0.470 chr7 48522769 . A AT 994.30 PASS BaseQRankSum=-2.177;DP=66;FS=0.976;HRun=7;HaplotypeScore=256.9311;MQ=57;MQ0=0;MQRankSum=1.072;QD=15.07;ReadPosRankSum=-1.444;SB=-384.73;TI=NM_152701;GI=ABCA13;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,37:66:99:1033,0,714:57:99:0.561 chr7 48545976 rs6583448 A G 1712.51 PASS DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=27.18;SB=-1247.04;TI=NM_152701;GI=ABCA13;FC=Missense_K4446E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1746,123,0:56:99:1.000 chr7 48634295 rs55974693 C A 1507.64 PASS BaseQRankSum=-0.117;DP=141;Dels=0.00;FS=7.637;HRun=0;HaplotypeScore=3.5489;MQ=53;MQ0=0;MQRankSum=0.859;QD=10.69;ReadPosRankSum=-1.303;SB=-760.06;TI=NM_152701;GI=ABCA13;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,63:141:99:1538,0,1830:53:99:0.450 chr7 50023122 rs988392 C T 774.84 PASS BaseQRankSum=0.147;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7014;MQ=59;MQ0=0;MQRankSum=-1.238;QD=14.09;ReadPosRankSum=-0.441;SB=-244.76;TI=NM_001159878,NM_007009;GI=ZPBP,ZPBP;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,28:55:99:805,0,674:59:99:0.519 chr7 50611735 rs6264 T C 5064.02 PASS BaseQRankSum=0.969;DP=168;Dels=0.00;FS=3.277;HRun=0;HaplotypeScore=4.7924;MQ=55;MQ0=0;MQRankSum=0.742;QD=30.14;ReadPosRankSum=-0.598;SB=-3073.12;TI=NM_000790,NM_001082971;GI=DDC,DDC;FC=Missense_M17V,Missense_M17V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,167:168:99:5064,336,0:55:99:0.994 chr7 50673029 rs4947710 T C 3064.08 PASS DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7396;MQ=51;MQ0=0;QD=27.60;SB=-1719.35;TI=NM_001001550,NM_005311,NM_001001549,NM_001001555;GI=GRB10,GRB10,GRB10,GRB10;FC=Synonymous_A391A,Synonymous_A449A,Synonymous_A403A,Synonymous_A391A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,111:111:99:3097,223,0:51:99:1.000 chr7 50742180 rs1800504 C T 1392.78 PASS BaseQRankSum=1.532;DP=116;Dels=0.00;FS=0.699;HRun=1;HaplotypeScore=2.8662;MQ=56;MQ0=0;MQRankSum=1.012;QD=12.01;ReadPosRankSum=-1.952;SB=-974.51;TI=NM_001001550,NM_005311,NM_001001549,NM_001001555;GI=GRB10,GRB10,GRB10,GRB10;FC=Synonymous_P47P,Synonymous_P105P,Synonymous_P105P,Synonymous_P47P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,61:116:99:1423,0,1454:56:99:0.526 chr7 55214348 rs2072454 C T 1136.38 PASS BaseQRankSum=0.222;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=52;MQ0=0;MQRankSum=-0.828;QD=9.88;ReadPosRankSum=0.530;SB=-732.96;TI=NM_201283,NM_201282,NM_201284,NM_005228;GI=EGFR,EGFR,EGFR,EGFR;FC=Synonymous_N158N,Synonymous_N158N,Synonymous_N158N,Synonymous_N158N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,53:115:99:1166,0,1426:52:99:0.461 chr7 55229255 rs2227983 G A 4125.15 PASS DP=158;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=54;MQ0=0;QD=26.11;SB=-3001.45;TI=NM_201282,NM_201284,NM_005228;GI=EGFR,EGFR,EGFR;FC=Missense_R521K,Missense_R521K,Missense_R521K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,158:158:99:4125,292,0:54:99:1.000 chr7 55238874 rs17337023 T A 2013.46 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=27.58;SB=-1266.10;TI=NM_005228;GI=EGFR;FC=Synonymous_T629T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2046,147,0:55:99:1.000 chr7 55249063 rs1050171 G A 1061.00 PASS BaseQRankSum=2.868;DP=98;Dels=0.00;FS=0.768;HRun=1;HaplotypeScore=2.8937;MQ=53;MQ0=0;MQRankSum=0.309;QD=10.83;ReadPosRankSum=-0.728;SB=-719.00;TI=NM_005228;GI=EGFR;FC=Synonymous_Q787Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,48:98:99:1091,0,1264:53:99:0.490 chr7 55266417 rs1140475 T C 3570.86 PASS DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=29.27;SB=-1927.63;TI=NM_005228;GI=EGFR;FC=Synonymous_T903T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3571,256,0:55:99:1.000 chr7 56088780 rs75497420 G A 152.68 LowVariantFreq;SB BaseQRankSum=0.008;DP=68;Dels=0.00;FS=15.242;HRun=0;HaplotypeScore=4.8931;MQ=51;MQ0=0;MQRankSum=-3.451;QD=2.25;ReadPosRankSum=-0.764;SB=-2.73;TI=NM_004577;GI=PSPH;FC=Synonymous_D42D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,12:68:99:183,0,1573:51:99:0.176 chr7 56088786 rs78053553 A T 214.95 LowVariantFreq;SB BaseQRankSum=0.932;DP=73;Dels=0.00;FS=18.241;HRun=0;HaplotypeScore=6.8780;MQ=50;MQ0=0;MQRankSum=-4.056;QD=2.94;ReadPosRankSum=-0.806;SB=-0.01;TI=NM_004577;GI=PSPH;FC=Synonymous_V40V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,14:73:99:245,0,1642:50:99:0.192 chr7 56088789 rs78178409 G A 218.65 LowVariantFreq;SB BaseQRankSum=0.164;DP=73;Dels=0.00;FS=18.176;HRun=0;HaplotypeScore=5.9840;MQ=50;MQ0=0;MQRankSum=-3.991;QD=3.00;ReadPosRankSum=-0.719;SB=-0.01;TI=NM_004577;GI=PSPH;FC=Synonymous_G39G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,14:73:99:249,0,1606:50:99:0.194 chr7 56088811 rs78599516 T C 178.11 LowVariantFreq;SB BaseQRankSum=-0.584;DP=79;Dels=0.00;FS=15.041;HRun=1;HaplotypeScore=0.8667;MQ=49;MQ0=0;MQRankSum=-3.627;QD=2.25;ReadPosRankSum=1.432;SB=-0.01;TI=NM_004577;GI=PSPH;FC=Missense_D32G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,14:79:99:208,0,1783:49:99:0.177 chr7 56088825 rs74445297 T A 255.63 LowVariantFreq;SB BaseQRankSum=0.876;DP=98;Dels=0.00;FS=17.424;HRun=0;HaplotypeScore=0.0000;MQ=47;MQ0=0;MQRankSum=-3.317;QD=2.61;ReadPosRankSum=1.197;SB=-9.96;TI=NM_004577;GI=PSPH;FC=Missense_R27S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,18:98:99:286,0,2162:47:99:0.184 chr7 65425894 rs9530 A G 513.43 PASS BaseQRankSum=-0.913;DP=37;Dels=0.00;FS=3.746;HRun=2;HaplotypeScore=4.4704;MQ=53;MQ0=0;MQRankSum=0.294;QD=13.88;ReadPosRankSum=0.727;SB=-216.50;TI=NM_000181;GI=GUSB;FC=Missense_L649P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,22:37:99:543,0,420:53:99:0.595 chr7 65426054 . CA C 99.01 R8 BaseQRankSum=-1.099;DP=38;FS=3.463;HRun=14;HaplotypeScore=207.5584;MQ=53;MQ0=0;MQRankSum=1.099;QD=2.61;ReadPosRankSum=-1.169;SB=-64.58;TI=NM_000181;GI=GUSB;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,7:38:99:138,0,354:53:99:0.212 chr7 66098384 rs3764904 G A 2434.76 PASS BaseQRankSum=-1.284;DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3589;MQ=51;MQ0=0;MQRankSum=-1.063;QD=11.76;ReadPosRankSum=-1.289;SB=-1713.20;TI=NM_001167961,NM_153033;GI=KCTD7,KCTD7;FC=Synonymous_T89T,Synonymous_T89T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,109:207:99:2465,0,2191:51:99:0.527 chr7 70252185 rs2293500 A G 3043.09 PASS DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=53;MQ0=0;QD=27.66;SB=-2018.58;TI=NM_001127231,NM_015570;GI=AUTS2,AUTS2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:3076,223,0:53:99:1.000 chr7 72754645 rs56301507 G A 2037.68 PASS BaseQRankSum=1.952;DP=181;Dels=0.00;FS=1.859;HRun=0;HaplotypeScore=0.8667;MQ=53;MQ0=0;MQRankSum=3.531;QD=11.26;ReadPosRankSum=0.087;SB=-1158.19;TI=NM_001135211,NM_003602;GI=FKBP6,FKBP6;FC=Synonymous_L193L,Synonymous_L198L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,87:181:99:2068,0,2144:53:99:0.481 chr7 73011060 rs41271232 C T 1674.75 PASS BaseQRankSum=-2.741;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=25.0800;MQ=55;MQ0=0;MQRankSum=0.299;QD=11.79;ReadPosRankSum=-1.191;SB=-799.91;TI=NM_032952,NM_032951,NM_032954,NM_032953;GI=MLXIPL,MLXIPL,MLXIPL,MLXIPL;FC=Synonymous_P577P,Synonymous_P577P,Synonymous_P577P,Synonymous_P577P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,70:142:99:1705,0,1783:55:99:0.511 chr7 73012051 rs73702541 G T 289.82 PASS BaseQRankSum=2.275;DP=22;Dels=0.00;FS=2.197;HRun=0;HaplotypeScore=1.8332;MQ=58;MQ0=0;MQRankSum=0.099;QD=13.17;ReadPosRankSum=-0.363;SB=-109.26;TI=NM_032952,NM_032951,NM_032954,NM_032953;GI=MLXIPL,MLXIPL,MLXIPL,MLXIPL;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,12:22:99:320,0,254:58:99:0.545 chr7 73020301 rs799157 T C 3184.51 PASS DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=51;MQ0=0;QD=27.45;SB=-2139.04;TI=NM_032952,NM_032951,NM_032954,NM_032953;GI=MLXIPL,MLXIPL,MLXIPL,MLXIPL;FC=Synonymous_S253S,Synonymous_S253S,Synonymous_S253S,Synonymous_S253S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3218,229,0:51:99:1.000 chr7 73122923 rs2228607 A G 1030.60 PASS BaseQRankSum=2.031;DP=101;Dels=0.00;FS=0.809;HRun=0;HaplotypeScore=9.9633;MQ=54;MQ0=0;MQRankSum=-0.781;QD=10.20;ReadPosRankSum=1.753;SB=-437.72;TI=NM_001165903,NM_004603;GI=STX1A,STX1A;FC=Synonymous_D68D,Synonymous_D68D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,44:101:99:1061,0,1316:54:99:0.440 chr7 74212311 rs2529318;rs59530780 G T 2700.71 PASS DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7748;MQ=28;MQ0=27;QD=20.46;SB=-1264.95;TI=NM_173537;GI=GTF2IRD2;FC=Missense_H514N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:132:99:2734,255,0:28:99:1.000 chr7 75137097 rs62477735 A G 20.17 LowGQX;LowGQ;SB BaseQRankSum=0.742;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=8;MQ0=26;MQRankSum=-0.742;QD=0.61;ReadPosRankSum=-0.742;SB=-0.01;TI=NR_028059;GI=PMS2P3;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:11,22:33:6:51,6,0:8:6:0.667 chr7 75145411 rs794378;rs79642876 T C 1482.93 PASS DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=37;MQ0=15;QD=20.60;SB=-903.64;TI=NR_028059;GI=PMS2P3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,69:72:99:1516,114,0:37:99:0.958 chr7 75145495 rs794377;rs75799888 G A 2075.10 PASS BaseQRankSum=1.919;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5658;MQ=38;MQ0=23;MQRankSum=0.546;QD=20.34;ReadPosRankSum=-0.140;SB=-1296.60;TI=NR_028059;GI=PMS2P3;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:8,94:102:99:2108,123,0:38:99:0.922 chr7 75189032 . T C 83.26 SB BaseQRankSum=-3.889;DP=53;Dels=0.00;FS=38.628;HRun=1;HaplotypeScore=81.1890;MQ=45;MQ0=0;MQRankSum=-2.507;QD=1.57;ReadPosRankSum=-1.867;SB=-0.01;TI=NM_005338;GI=HIP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,14:53:99:113,0,1141:45:83:0.269 chr7 75401418 rs2240478 G A 1811.22 PASS BaseQRankSum=-0.734;DP=145;Dels=0.00;FS=1.351;HRun=0;HaplotypeScore=7.2036;MQ=54;MQ0=0;MQRankSum=1.934;QD=12.49;ReadPosRankSum=2.358;SB=-1025.54;TI=NM_006072;GI=CCL26;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,76:145:99:1841,0,1668:54:99:0.524 chr7 75609677 rs1135612 A G 1051.19 PASS BaseQRankSum=0.085;DP=101;Dels=0.00;FS=5.142;HRun=1;HaplotypeScore=4.7777;MQ=54;MQ0=0;MQRankSum=-0.214;QD=10.41;ReadPosRankSum=0.037;SB=-793.86;TI=NM_000941;GI=POR;FC=Synonymous_P129P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,49:101:99:1081,0,1252:54:99:0.485 chr7 75614953 rs2228104 T C 8696.06 PASS DP=287;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.3618;MQ=55;MQ0=0;QD=30.30;SB=-3436.13;TI=NM_000941;GI=POR;FC=Synonymous_A485A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,286:287:99:8696,635,0:55:99:1.000 chr7 75615287 rs1057870 G A 2492.60 PASS BaseQRankSum=2.759;DP=215;Dels=0.00;FS=5.740;HRun=0;HaplotypeScore=12.5161;MQ=55;MQ0=0;MQRankSum=1.548;QD=11.59;ReadPosRankSum=-0.291;SB=-1144.00;TI=NM_000941;GI=POR;FC=Synonymous_S572S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,94:215:99:2523,0,3420:55:99:0.437 chr7 77648671 rs13438302 G C 174.54 LowDP BaseQRankSum=-0.146;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58;MQ0=0;MQRankSum=1.220;QD=10.27;ReadPosRankSum=0.927;SB=-30.29;TI=NM_012301;GI=MAGI2;FC=Synonymous_P1443P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,7:17:99:205,0,291:58:99:0.412 chr7 77648731 rs2960452 C G 39.42 LowGQ;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.736;QD=13.14;ReadPosRankSum=0.736;SB=-0.01;TI=NM_012301;GI=MAGI2;FC=Synonymous_P1423P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,2:3:28.77:69,0,29:60:29:0.667 chr7 77649085 . C T 823.00 PASS BaseQRankSum=-1.743;DP=76;Dels=0.00;FS=0.952;HRun=2;HaplotypeScore=6.4029;MQ=53;MQ0=0;MQRankSum=1.836;QD=10.83;ReadPosRankSum=-1.399;SB=-316.43;TI=NM_012301;GI=MAGI2;FC=Synonymous_Q1305Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,36:76:99:853,0,941:53:99:0.474 chr7 77756580 rs2074641 T C 570.73 PASS BaseQRankSum=1.257;DP=33;Dels=0.00;FS=1.579;HRun=0;HaplotypeScore=0.8667;MQ=59;MQ0=0;MQRankSum=-0.200;QD=17.29;ReadPosRankSum=0.055;SB=-120.89;TI=NM_012301;GI=MAGI2;FC=Synonymous_L1119L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,19:33:99:601,0,320:59:99:0.576 chr7 77756724 rs7812015 C T 1140.53 PASS BaseQRankSum=2.532;DP=107;Dels=0.00;FS=2.552;HRun=0;HaplotypeScore=3.6789;MQ=54;MQ0=0;MQRankSum=1.408;QD=10.66;ReadPosRankSum=2.513;SB=-656.76;TI=NM_012301;GI=MAGI2;FC=Synonymous_S1071S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,50:107:99:1171,0,1264:54:99:0.467 chr7 80285850 rs3173798 T C 939.80 PASS BaseQRankSum=0.170;DP=62;Dels=0.00;FS=1.133;HRun=1;HaplotypeScore=3.5764;MQ=58;MQ0=0;MQRankSum=0.185;QD=15.16;ReadPosRankSum=-0.213;SB=-262.76;TI=NM_001001547,NM_000072,NM_001001548,NM_001127443,NM_001127444;GI=CD36,CD36,CD36,CD36,CD36;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,35:62:99:970,0,803:58:99:0.565 chr7 80290369 rs3211892 A G 4880.57 PASS DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=56;MQ0=0;QD=28.54;SB=-3285.66;TI=NM_001001547,NM_000072,NM_001001548,NM_001127443,NM_001127444;GI=CD36,CD36,CD36,CD36,CD36;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:171:99:4881,349,0:56:99:1.000 chr7 81346685 rs1800793 T C 3295.20 PASS BaseQRankSum=-0.006;DP=266;Dels=0.00;FS=4.375;HRun=0;HaplotypeScore=9.2420;MQ=55;MQ0=0;MQRankSum=1.916;QD=12.39;ReadPosRankSum=-0.624;SB=-1573.26;TI=NM_001010932,NM_000601;GI=HGF,HGF;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,125:266:99:3295,0,3790:55:99:0.470 chr7 81579832 . T TA 215.22 R8 BaseQRankSum=1.242;DP=48;FS=0.000;HRun=10;HaplotypeScore=104.3052;MQ=57;MQ0=0;MQRankSum=1.570;QD=4.48;ReadPosRankSum=-0.586;SB=-115.73;TI=NM_000722;GI=CACNA2D1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,14:48:99:254,0,750:57:99:0.304 chr7 81588636 rs1229502 G A 2483.02 PASS BaseQRankSum=1.286;DP=163;Dels=0.00;FS=0.602;HRun=0;HaplotypeScore=3.6464;MQ=53;MQ0=0;MQRankSum=1.262;QD=15.23;ReadPosRankSum=2.566;SB=-1221.79;TI=NM_000722;GI=CACNA2D1;FC=Synonymous_P1038P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,93:163:99:2513,0,1843:53:99:0.571 chr7 81634822 . GAA G 121.37 LowVariantFreq;R8 BaseQRankSum=0.033;DP=59;FS=1.035;HRun=14;HaplotypeScore=213.5278;MQ=50;MQ0=0;MQRankSum=0.494;QD=2.06;ReadPosRankSum=1.220;SB=-77.07;TI=NM_000722;GI=CACNA2D1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,8:59:99:160,0,1054:50:99:0.178 chr7 81641570 . GA G 86.96 LowVariantFreq;R8 BaseQRankSum=1.076;DP=110;FS=0.825;HRun=13;HaplotypeScore=286.9651;MQ=52;MQ0=0;MQRankSum=-1.721;QD=0.79;ReadPosRankSum=-0.356;SB=-46.99;TI=NM_000722;GI=CACNA2D1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,13:110:99:126,0,1434:52:87:0.144 chr7 81695842 rs72416976 TA T 122.82 R8 BaseQRankSum=0.353;DP=39;FS=1.374;HRun=16;HaplotypeScore=217.5787;MQ=48;MQ0=0;MQRankSum=1.636;QD=3.15;ReadPosRankSum=-0.417;SB=-64.73;TI=NM_000722;GI=CACNA2D1;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,6:38:99:162,0,271:48:99:0.222 chr7 83037751 rs2722985 C A 4028.36 PASS BaseQRankSum=2.220;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3608;MQ=50;MQ0=0;MQRankSum=1.139;QD=26.86;ReadPosRankSum=-0.090;SB=-2546.81;TI=NM_001178129,NM_012431;GI=SEMA3E,SEMA3E;FC=Synonymous_A141A,Synonymous_A201A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,148:150:99:4028,250,0:50:99:0.987 chr7 83590852 rs797821 T C 8628.97 PASS DP=276;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.3781;MQ=56;MQ0=0;QD=31.26;SB=-4981.62;TI=NM_006080;GI=SEMA3A;FC=Synonymous_T717T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,276:276:99:8629,632,0:56:99:1.000 chr7 83606518 rs701320 G A 1833.51 PASS DP=71;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=25.82;SB=-1260.58;TI=NM_006080;GI=SEMA3A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:1867,132,0:51:99:1.000 chr7 87082292 rs1202283 G A 957.33 PASS BaseQRankSum=1.007;DP=83;Dels=0.00;FS=1.790;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=2.101;QD=11.53;ReadPosRankSum=2.365;SB=-628.82;TI=NM_000443,NM_018850,NM_018849;GI=ABCB4,ABCB4,ABCB4;FC=Synonymous_N168N,Synonymous_N168N,Synonymous_N168N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,40:83:99:987,0,1023:53:99:0.482 chr7 87138645 rs1045642 A G 823.78 PASS BaseQRankSum=-1.157;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7829;MQ=54;MQ0=0;MQRankSum=-0.207;QD=8.67;ReadPosRankSum=-0.155;SB=-601.16;TI=NM_000927;GI=ABCB1;FC=Synonymous_I1145I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,40:95:99:854,0,1381:54:99:0.421 chr7 87160618 rs2032582 A C 2593.31 PASS BaseQRankSum=1.495;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7184;MQ=55;MQ0=0;MQRankSum=0.594;QD=15.08;ReadPosRankSum=-2.018;SB=-1203.41;TI=NM_000927;GI=ABCB1;FC=Missense_S893A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,102:172:99:2623,0,1608:55:99:0.593 chr7 87179601 rs1128503 A G 1417.65 PASS BaseQRankSum=-0.369;DP=88;Dels=0.00;FS=0.834;HRun=1;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=0.091;QD=16.11;ReadPosRankSum=0.551;SB=-850.90;TI=NM_000927;GI=ABCB1;FC=Synonymous_G412G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,56:88:99:1448,0,794:56:99:0.636 chr7 87229440 rs9282564 T C 496.29 PASS BaseQRankSum=0.757;DP=49;Dels=0.00;FS=11.330;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.068;QD=10.13;ReadPosRankSum=2.623;SB=-125.13;TI=NM_000927;GI=ABCB1;FC=Missense_N21D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,18:49:99:526,0,842:55:99:0.367 chr7 87229501 rs2214102 T C 1349.81 PASS DP=48;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.12;SB=-790.23;TI=NM_000927;GI=ABCB1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:99:1383,99,0:54:99:1.000 chr7 87913361 rs1981529 C T 2768.77 PASS BaseQRankSum=2.724;DP=191;Dels=0.00;FS=2.547;HRun=0;HaplotypeScore=4.4704;MQ=56;MQ0=0;MQRankSum=0.983;QD=14.50;ReadPosRankSum=-1.133;SB=-1740.79;TI=NM_024636;GI=STEAP4;FC=Missense_G75D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,105:191:99:2799,0,2307:56:99:0.550 chr7 90894459 . A ACCG 707.94 PASS BaseQRankSum=0.567;DP=38;FS=3.087;HRun=0;HaplotypeScore=46.1544;MQ=57;MQ0=0;MQRankSum=-0.966;QD=18.63;ReadPosRankSum=-1.272;SB=-178.54;TI=NM_003505;GI=FZD1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,16:38:99:747,0,992:57:99:0.432 chr7 91630620 rs6964587 G T 2709.80 PASS BaseQRankSum=-0.039;DP=228;Dels=0.00;FS=2.279;HRun=1;HaplotypeScore=2.9969;MQ=53;MQ0=0;MQRankSum=2.390;QD=11.89;ReadPosRankSum=0.164;SB=-1665.67;TI=NM_147185,NM_005751;GI=AKAP9,AKAP9;FC=Missense_M463I,Missense_M463I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,106:228:99:2740,0,2982:53:99:0.465 chr7 91632306 rs1989779 C T 1508.05 PASS DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=33.51;SB=-600.89;TI=NM_147185,NM_005751;GI=AKAP9,AKAP9;FC=Synonymous_T1025T,Synonymous_T1025T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,45:45:99:1541,114,0:57:99:1.000 chr7 91641928 rs13245393 A G 1968.88 PASS BaseQRankSum=1.166;DP=195;Dels=0.00;FS=0.577;HRun=0;HaplotypeScore=2.7554;MQ=55;MQ0=0;MQRankSum=1.050;QD=10.10;ReadPosRankSum=2.054;SB=-876.60;TI=NM_147185,NM_005751;GI=AKAP9,AKAP9;FC=Synonymous_E1168E,Synonymous_E1168E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,85:195:99:1999,0,3015:55:99:0.436 chr7 91652178 rs10644111 A AAAC 1767.72 PASS BaseQRankSum=-1.458;DP=69;FS=2.021;HRun=0;HaplotypeScore=37.1450;MQ=59;MQ0=0;MQRankSum=-0.006;QD=25.62;ReadPosRankSum=0.318;SB=-679.39;TI=NM_147185,NM_005751;GI=AKAP9,AKAP9;FC=1AA_Insertion,1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,33:69:99:1807,0,1867:59:99:0.485 chr7 91691601 rs10236397 C T 682.31 PASS BaseQRankSum=-0.308;DP=45;Dels=0.00;FS=1.256;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.080;QD=15.16;ReadPosRankSum=0.308;SB=-236.61;TI=NM_147185,NM_005751;GI=AKAP9,AKAP9;FC=Synonymous_G1926G,Synonymous_G1926G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,25:45:99:712,0,523:57:99:0.556 chr7 91707197 rs733957 C T 358.02 PASS BaseQRankSum=1.846;DP=26;Dels=0.00;FS=1.515;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.590;QD=13.77;ReadPosRankSum=1.641;SB=-134.86;TI=NM_147185,NM_005751;GI=AKAP9,AKAP9;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,13:26:99:388,0,348:57:99:0.500 chr7 91712698 rs6960867 A G 1369.47 PASS BaseQRankSum=1.368;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7829;MQ=56;MQ0=0;MQRankSum=1.795;QD=13.83;ReadPosRankSum=-0.178;SB=-812.14;TI=NM_147185,NM_005751;GI=AKAP9,AKAP9;FC=Missense_N2784S,Missense_N2792S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,50:99:99:1399,0,1231:56:99:0.505 chr7 91713972 rs10228334 C T 753.38 PASS BaseQRankSum=0.096;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=52;MQ0=0;MQRankSum=2.850;QD=10.32;ReadPosRankSum=0.448;SB=-451.17;TI=NM_147185,NM_005751;GI=AKAP9,AKAP9;FC=Synonymous_L2881L,Synonymous_L2889L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,32:73:99:783,0,1069:52:99:0.444 chr7 91714911 rs1063242 C T 2121.51 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=49;MQ0=0;QD=24.67;SB=-1505.57;TI=NM_147185,NM_005751;GI=AKAP9,AKAP9;FC=Missense_P2971S,Missense_P2979S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2155,151,0:49:99:1.000 chr7 91715662 rs28927678 C T 1000.57 PASS BaseQRankSum=0.604;DP=124;Dels=0.00;FS=0.676;HRun=1;HaplotypeScore=3.7602;MQ=51;MQ0=0;MQRankSum=1.067;QD=8.07;ReadPosRankSum=0.298;SB=-788.06;TI=NM_147185,NM_005751;GI=AKAP9,AKAP9;FC=Synonymous_L3041L,Synonymous_L3049L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,50:124:99:1031,0,1829:51:99:0.403 chr7 91726927 rs1063243 A C 755.48 PASS BaseQRankSum=0.007;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.935;QD=11.80;ReadPosRankSum=-0.518;SB=-339.46;TI=NM_147185,NM_005751;GI=AKAP9,AKAP9;FC=Synonymous_R3468R,Synonymous_R3476R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,34:64:99:785,0,812:57:99:0.531 chr7 92129161 rs5885806 CA C 177.17 R8 BaseQRankSum=0.215;DP=26;FS=7.144;HRun=12;HaplotypeScore=59.6594;MQ=58;MQ0=0;MQRankSum=1.077;QD=6.81;ReadPosRankSum=0.031;SB=-89.55;TI=NM_000466;GI=PEX1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,9:26:99:216,0,172:58:99:0.429 chr7 92131289 rs10278857 G T 1398.31 PASS DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=30.40;SB=-762.88;TI=NM_000466;GI=PEX1;FC=Synonymous_G777G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:99:1431,105,0:56:99:1.000 chr7 93116299 rs2301680 A G 1642.85 PASS DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=26.08;SB=-1151.30;TI=NM_001164738,NM_001164737,NM_001742;GI=CALCR,CALCR,CALCR;FC=Silent,Missense_S17P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1676,117,0:57:99:1.000 chr7 94039032 rs42519 C T 1167.61 PASS BaseQRankSum=0.579;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=53;MQ0=0;MQRankSum=-0.080;QD=15.36;ReadPosRankSum=-0.515;SB=-706.11;TI=NM_000089;GI=COL1A2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,46:76:99:1198,0,756:53:99:0.605 chr7 94043239 rs42524 C G 589.46 PASS BaseQRankSum=1.600;DP=71;Dels=0.00;FS=0.943;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=-1.720;QD=8.30;ReadPosRankSum=-2.008;SB=-414.42;TI=NM_000089;GI=COL1A2;FC=Missense_P549A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,28:71:99:619,0,1207:53:99:0.400 chr7 94227276 rs10247562 T G 61.46 SB;LowDP BaseQRankSum=0.000;DP=11;Dels=0.00;FS=6.264;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=0.566;QD=5.59;ReadPosRankSum=0.382;SB=-0.01;TI=NM_001099401,NM_003919,NM_001099400;GI=SGCE,SGCE,SGCE;FC=Missense_S432R,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,3:11:91.45:91,0,214:58:61:0.273 chr7 94227319 . TA T 77.78 R8;LowDP BaseQRankSum=-0.754;DP=17;FS=1.913;HRun=12;HaplotypeScore=60.7336;MQ=53;MQ0=0;MQRankSum=1.357;QD=4.58;ReadPosRankSum=0.955;SB=-53.91;TI=NM_001099401,NM_003919,NM_001099400;GI=SGCE,SGCE,SGCE;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,5:17:99:117,0,228:53:78:0.294 chr7 94937446 rs662 T C 2352.21 PASS BaseQRankSum=4.018;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8858;MQ=54;MQ0=0;MQRankSum=2.069;QD=11.88;ReadPosRankSum=0.990;SB=-1639.87;TI=NM_000446;GI=PON1;FC=Missense_Q192R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,99:198:99:2382,0,2409:54:99:0.500 chr7 95001555 rs1053275 C T 2536.56 PASS BaseQRankSum=-0.518;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=56;MQ0=0;MQRankSum=0.375;QD=26.15;ReadPosRankSum=1.161;SB=-1733.50;TI=NM_000940;GI=PON3;FC=Synonymous_A99A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,96:97:99:2570,146,0:56:99:0.990 chr7 95025600 rs13226149 G A 1248.36 PASS BaseQRankSum=0.629;DP=106;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7547;MQ=52;MQ0=0;MQRankSum=0.130;QD=11.78;ReadPosRankSum=1.716;SB=-851.57;TI=NM_000940;GI=PON3;FC=Synonymous_F21F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,54:106:99:1278,0,1190:52:99:0.509 chr7 95034775 rs7493 G C 898.55 PASS BaseQRankSum=1.426;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9929;MQ=56;MQ0=0;MQRankSum=-0.704;QD=12.66;ReadPosRankSum=0.914;SB=-590.13;TI=NM_000305,NM_001018161;GI=PON2,PON2;FC=Missense_S311C,Missense_S299C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,41:71:99:929,0,710:56:99:0.577 chr7 95041016 rs12026 G C 1879.24 PASS BaseQRankSum=-0.145;DP=127;Dels=0.00;FS=1.437;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=1.409;QD=14.80;ReadPosRankSum=-0.037;SB=-1296.94;TI=NM_000305,NM_001018161;GI=PON2,PON2;FC=Missense_A148G,Missense_A136G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,76:127:99:1909,0,1157:54:99:0.598 chr7 95800820 rs2301629 T C 808.93 PASS BaseQRankSum=0.356;DP=75;Dels=0.00;FS=3.226;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=1.428;QD=10.79;ReadPosRankSum=1.535;SB=-550.53;TI=NM_014251,NM_001160210,NR_027662;GI=SLC25A13,SLC25A13,SLC25A13;FC=Synonymous_L398L,Synonymous_L399L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,35:75:99:839,0,1073:54:99:0.467 chr7 95864108 rs6957975 T C 2027.68 PASS BaseQRankSum=0.880;DP=170;Dels=0.01;FS=7.376;HRun=1;HaplotypeScore=35.4719;MQ=53;MQ0=0;MQRankSum=3.939;QD=11.93;ReadPosRankSum=-2.527;SB=-623.33;TI=NM_014251,NM_001160210,NR_027662;GI=SLC25A13,SLC25A13,SLC25A13;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,76:169:99:2058,0,2433:53:99:0.450 chr7 96635420 . A AGCC 2955.97 R8 BaseQRankSum=-0.361;DP=160;FS=1.474;HRun=0;HaplotypeScore=188.1843;MQ=57;MQ0=0;MQRankSum=1.417;QD=18.47;ReadPosRankSum=-0.761;SB=-927.85;TI=NR_015448,NM_005222;GI=DLX6-AS1,DLX6;FC=Noncoding,1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,62:160:99:2995,0,3165:57:99:0.400 chr7 97488569 rs1049674 A T 2790.77 PASS BaseQRankSum=-0.898;DP=236;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7811;MQ=54;MQ0=0;MQRankSum=2.812;QD=11.83;ReadPosRankSum=0.923;SB=-1512.25;TI=NM_133436,NM_001178077,NM_001178076,NM_183356,NM_001673,NM_001178075;GI=ASNS,ASNS,ASNS,ASNS,ASNS,ASNS;FC=Missense_V210E,Missense_V127E,Missense_V127E,Missense_V210E,Missense_V210E,Missense_V189E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,115:236:99:2821,0,3184:54:99:0.487 chr7 98507846 . A C 150.67 SB BaseQRankSum=-0.103;DP=32;Dels=0.00;FS=38.516;HRun=4;HaplotypeScore=27.5871;MQ=43;MQ0=0;MQRankSum=-1.920;QD=4.71;ReadPosRankSum=-1.424;SB=-0.01;TI=NM_003496;GI=TRRAP;FC=Synonymous_P506P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,11:32:99:181,0,412:43:99:0.355 chr7 98507849 . T C 110.84 SB BaseQRankSum=-0.764;DP=33;Dels=0.03;FS=32.874;HRun=2;HaplotypeScore=25.0345;MQ=43;MQ0=0;MQRankSum=0.640;QD=3.36;ReadPosRankSum=-0.805;SB=-0.01;TI=NM_003496;GI=TRRAP;FC=Synonymous_P507P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,11:32:99:141,0,434:43:99:0.355 chr7 98507852 . A C 139.34 SB BaseQRankSum=-3.261;DP=33;Dels=0.00;FS=38.166;HRun=5;HaplotypeScore=13.7086;MQ=43;MQ0=0;MQRankSum=-0.882;QD=4.22;ReadPosRankSum=-0.806;SB=-0.01;TI=NM_003496;GI=TRRAP;FC=Synonymous_P508P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,13:33:99:169,0,501:43:99:0.406 chr7 98507858 . G C 197.05 SB BaseQRankSum=-0.392;DP=33;Dels=0.03;FS=60.766;HRun=5;HaplotypeScore=13.4478;MQ=42;MQ0=0;MQRankSum=-0.805;QD=5.97;ReadPosRankSum=-1.590;SB=-1.67;TI=NM_003496;GI=TRRAP;FC=Synonymous_P510P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,11:32:99:227,0,533:42:99:0.355 chr7 98507864 . A C 79.56 SB BaseQRankSum=-0.584;DP=38;Dels=0.03;FS=22.961;HRun=5;HaplotypeScore=10.7825;MQ=43;MQ0=0;MQRankSum=-3.239;QD=2.09;ReadPosRankSum=0.124;SB=-0.01;TI=NM_003496;GI=TRRAP;FC=Synonymous_P512P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,9:37:99:110,0,747:43:80:0.243 chr7 98507870 . A C 76.39 LowVariantFreq;SB BaseQRankSum=-2.931;DP=43;Dels=0.00;FS=18.478;HRun=5;HaplotypeScore=7.9599;MQ=45;MQ0=0;MQRankSum=-2.835;QD=1.78;ReadPosRankSum=-0.496;SB=-0.01;TI=NM_003496;GI=TRRAP;FC=Synonymous_P514P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,8:43:99:106,0,935:45:76:0.190 chr7 98507873 . T C 24.04 LowVariantFreq;SB BaseQRankSum=-2.943;DP=49;Dels=0.00;FS=17.164;HRun=2;HaplotypeScore=9.6242;MQ=46;MQ0=0;MQRankSum=-3.187;QD=0.49;ReadPosRankSum=0.198;SB=-0.01;TI=NM_003496;GI=TRRAP;FC=Synonymous_P515P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,6:49:54.01:54,0,1208:46:24:0.122 chr7 98558880 rs160384 G C 2635.39 PASS DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4704;MQ=49;MQ0=0;QD=28.34;SB=-1331.58;TI=NM_003496;GI=TRRAP;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:93:99:2668,196,0:49:99:1.000 chr7 99293475 rs2740565 T A 1100.07 PASS DP=41;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=26.83;SB=-598.92 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:81.27:1133,81,0:54:81:1.000 chr7 99306685 rs2257401 C G 3719.67 PASS DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=34.44;SB=-882.43;TI=NM_000765;GI=CYP3A7;FC=Missense_R409T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:3720,277,0:57:99:1.000 chr7 99521208 . G A 1323.24 PASS BaseQRankSum=2.538;DP=116;Dels=0.00;FS=2.412;HRun=0;HaplotypeScore=5.3645;MQ=53;MQ0=0;MQRankSum=-0.036;QD=11.41;ReadPosRankSum=-0.624;SB=-959.68;TI=NM_181538;GI=GJC3;FC=Missense_A267V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,59:116:99:1353,0,1332:53:99:0.513 chr7 99702947 rs41280968 G A 2523.41 PASS BaseQRankSum=1.310;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8283;MQ=56;MQ0=0;MQRankSum=2.994;QD=14.34;ReadPosRankSum=-1.328;SB=-1495.27;TI=NM_004722;GI=AP4M1;FC=Missense_R271H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,100:176:99:2553,0,1886:56:99:0.568 chr7 99703891 . C T 1907.57 PASS BaseQRankSum=0.721;DP=131;Dels=0.00;FS=3.322;HRun=1;HaplotypeScore=7.4257;MQ=51;MQ0=0;MQRankSum=1.448;QD=14.56;ReadPosRankSum=1.325;SB=-1327.00;TI=NM_004722;GI=AP4M1;FC=Synonymous_L334L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,82:131:99:1938,0,1131:51:99:0.626 chr7 100218631 rs41295942 C T 514.91 PASS BaseQRankSum=2.100;DP=65;Dels=0.00;FS=0.998;HRun=0;HaplotypeScore=1.8924;MQ=54;MQ0=0;MQRankSum=0.401;QD=7.92;ReadPosRankSum=-0.224;SB=-281.31;TI=NM_003227;GI=TFR2;FC=Missense_R752H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,24:65:99:545,0,1001:54:99:0.369 chr7 100225031 rs2075674 G A 1183.43 PASS BaseQRankSum=2.233;DP=84;Dels=0.00;FS=0.843;HRun=0;HaplotypeScore=5.3880;MQ=57;MQ0=0;MQRankSum=-0.679;QD=14.09;ReadPosRankSum=0.975;SB=-571.84;TI=NM_003227;GI=TFR2;FC=Synonymous_A617A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,46:84:99:1213,0,996:57:99:0.548 chr7 100371100 rs2734880 C A 2311.60 PASS BaseQRankSum=-1.758;DP=166;Dels=0.00;FS=3.674;HRun=0;HaplotypeScore=11.2311;MQ=55;MQ0=0;MQRankSum=2.238;QD=13.93;ReadPosRankSum=-1.502;SB=-1049.07;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Missense_A1873E,Missense_A1873E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,89:166:99:2342,0,1915:55:99:0.536 chr7 100371114 rs314298 C T 1620.50 PASS BaseQRankSum=-2.977;DP=135;Dels=0.00;FS=3.192;HRun=0;HaplotypeScore=8.4010;MQ=55;MQ0=0;MQRankSum=1.177;QD=12.00;ReadPosRankSum=-0.376;SB=-760.80;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Missense_P1878S,Missense_P1878S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,68:135:99:1650,0,1673:55:99:0.504 chr7 100371473 rs314299 C T 717.73 PASS BaseQRankSum=0.763;DP=91;Dels=0.00;FS=2.928;HRun=0;HaplotypeScore=12.5419;MQ=57;MQ0=0;MQRankSum=0.004;QD=7.89;ReadPosRankSum=-0.544;SB=-385.94;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Missense_R1922C,Missense_R1922C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,32:91:99:748,0,1480:57:99:0.356 chr7 100371474 rs78193191 G A 1442.35 PASS BaseQRankSum=0.519;DP=91;Dels=0.00;FS=4.303;HRun=0;HaplotypeScore=12.5419;MQ=57;MQ0=0;MQRankSum=2.487;QD=15.85;ReadPosRankSum=0.678;SB=-974.14;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Missense_R1922H,Missense_R1922H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,57:91:99:1472,0,724:57:99:0.633 chr7 100371476 . T TG 2338.31 PASS BaseQRankSum=-1.010;DP=91;FS=2.911;HRun=0;HaplotypeScore=404.9430;MQ=57;MQ0=0;MQRankSum=2.473;QD=25.70;ReadPosRankSum=0.495;SB=-1187.90;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,55:91:99:2377,0,1167:57:99:0.604 chr7 100373077 rs542137 C G 2660.47 PASS BaseQRankSum=1.216;DP=212;Dels=0.00;FS=0.508;HRun=0;HaplotypeScore=6.4918;MQ=56;MQ0=0;MQRankSum=0.022;QD=12.55;ReadPosRankSum=0.078;SB=-1677.09;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Missense_S1969C,Missense_S1969C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,109:212:99:2690,0,2542:56:99:0.514 chr7 100373367 rs539445 G C 3553.56 PASS BaseQRankSum=0.457;DP=305;Dels=0.00;FS=0.424;HRun=1;HaplotypeScore=4.5761;MQ=55;MQ0=0;MQRankSum=0.803;QD=11.65;ReadPosRankSum=-0.150;SB=-1977.97;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Missense_A2035P,Missense_A2035P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:160,145:305:99:3554,0,4179:55:99:0.475 chr7 100374087 rs314300 A G 510.29 PASS BaseQRankSum=-0.844;DP=59;Dels=0.00;FS=1.017;HRun=0;HaplotypeScore=3.6770;MQ=48;MQ0=0;MQRankSum=0.525;QD=8.65;ReadPosRankSum=-0.494;SB=-401.05;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Missense_M2073V,Missense_M2073V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,27:59:99:540,0,714:48:99:0.458 chr7 100377082 rs531503 T C 2235.17 PASS BaseQRankSum=0.299;DP=173;Dels=0.00;FS=1.260;HRun=2;HaplotypeScore=8.4328;MQ=54;MQ0=0;MQRankSum=1.715;QD=12.92;ReadPosRankSum=0.673;SB=-1040.85;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Missense_W2111R,Missense_W2111R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,89:173:99:2265,0,2097:54:99:0.514 chr7 100377373 rs482308 G A 1791.48 PASS BaseQRankSum=-1.117;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.6156;MQ=55;MQ0=0;MQRankSum=0.034;QD=14.22;ReadPosRankSum=-1.122;SB=-811.65;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,71:126:99:1821,0,1295:55:99:0.563 chr7 100386900 rs191137 T C 4699.26 PASS DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6766;MQ=54;MQ0=0;QD=29.19;SB=-2528.26;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Synonymous_C2429C,Synonymous_C2429C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,161:161:99:4699,337,0:54:99:1.000 chr7 100391581 rs314339 T C 3376.13 PASS BaseQRankSum=0.254;DP=265;Dels=0.00;FS=1.540;HRun=0;HaplotypeScore=10.9849;MQ=54;MQ0=0;MQRankSum=1.447;QD=12.74;ReadPosRankSum=-1.788;SB=-1581.91;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Silent,Synonymous_S2642S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:131,134:265:99:3376,0,3253:54:99:0.506 chr7 100391644 rs314340 T C 5688.49 PASS DP=174;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2717;MQ=58;MQ0=0;QD=32.69;SB=-3425.12;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,174:174:99:5688,415,0:58:99:1.000 chr7 100395003 rs314344 G C 1333.19 PASS BaseQRankSum=1.736;DP=106;Dels=0.00;FS=0.729;HRun=1;HaplotypeScore=5.5431;MQ=54;MQ0=0;MQRankSum=1.355;QD=12.58;ReadPosRankSum=1.691;SB=-879.48;TI=NM_173059,NM_003386;GI=ZAN,ZAN;FC=Missense_A2670P,Missense_A2761P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,58:106:99:1363,0,1138:54:99:0.547 chr7 100488658 rs1799806 G C 915.18 PASS BaseQRankSum=0.235;DP=70;Dels=0.00;FS=0.912;HRun=1;HaplotypeScore=2.8661;MQ=53;MQ0=0;MQRankSum=1.518;QD=13.07;ReadPosRankSum=0.553;SB=-430.27;TI=NM_015831,NM_000665;GI=ACHE,ACHE;FC=Missense_P592R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,33:70:99:945,0,873:53:99:0.471 chr7 100608370 rs73714276 A C 365.86 LowVariantFreq;SB BaseQRankSum=3.783;DP=163;Dels=0.00;FS=19.411;HRun=0;HaplotypeScore=8.3007;MQ=53;MQ0=0;MQRankSum=-4.962;QD=2.24;ReadPosRankSum=-0.988;SB=-0.01 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:138,25:163:99:396,0,3660:53:99:0.153 chr7 100608375 rs75592954 G A 347.44 LowVariantFreq;SB BaseQRankSum=1.489;DP=151;Dels=0.00;FS=21.223;HRun=1;HaplotypeScore=7.6453;MQ=54;MQ0=0;MQRankSum=-5.138;QD=2.30;ReadPosRankSum=-1.204;SB=-0.01 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:127,24:151:99:377,0,3393:54:99:0.159 chr7 100610069 rs10258821 C T 2423.84 PASS BaseQRankSum=1.569;DP=227;Dels=0.00;FS=1.055;HRun=0;HaplotypeScore=19.9970;MQ=53;MQ0=0;MQRankSum=3.841;QD=10.68;ReadPosRankSum=1.140;SB=-1546.99 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,101:227:99:2454,0,3148:53:99:0.447 chr7 103138517 rs2711885 C G 1186.21 PASS DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=34.89;SB=-443.91;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:90.30:1219,90,0:59:90:1.000 chr7 103155705 rs2229864 A G 781.82 PASS BaseQRankSum=1.967;DP=55;Dels=0.00;FS=1.105;HRun=0;HaplotypeScore=4.3608;MQ=54;MQ0=0;MQRankSum=1.039;QD=14.21;ReadPosRankSum=2.139;SB=-384.66;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Synonymous_H2682H,Synonymous_H2682H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,33:55:99:812,0,517:54:99:0.600 chr7 103155864 rs56345626 A G 1271.11 PASS BaseQRankSum=0.204;DP=92;Dels=0.00;FS=3.984;HRun=2;HaplotypeScore=1.7608;MQ=56;MQ0=0;MQRankSum=0.982;QD=13.82;ReadPosRankSum=-0.039;SB=-771.59;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Synonymous_P2629P,Synonymous_P2629P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,51:92:99:1301,0,994:56:99:0.554 chr7 103389954 rs607755 A G 1081.83 PASS BaseQRankSum=-0.145;DP=85;Dels=0.00;FS=7.282;HRun=0;HaplotypeScore=1.7608;MQ=52;MQ0=0;MQRankSum=1.130;QD=12.73;ReadPosRankSum=1.007;SB=-517.56;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,44:85:99:1112,0,911:52:99:0.518 chr7 104753240 . A C 18.56 SB;LowDP BaseQRankSum=0.057;DP=17;Dels=0.00;FS=7.404;HRun=5;HaplotypeScore=11.6590;MQ=49;MQ0=0;MQRankSum=-0.396;QD=1.09;ReadPosRankSum=0.283;SB=-0.01;TI=NM_018682,NM_182931;GI=MLL5,MLL5;FC=Synonymous_P1679P,Synonymous_P1679P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,4:17:48.50:48,0,201:49:19:0.235 chr7 104753246 . A C 36.77 SB;LowDP BaseQRankSum=0.536;DP=12;Dels=0.00;FS=17.482;HRun=5;HaplotypeScore=11.0698;MQ=50;MQ0=0;MQRankSum=-1.134;QD=3.06;ReadPosRankSum=-0.536;SB=-2.50;TI=NM_018682,NM_182931;GI=MLL5,MLL5;FC=Synonymous_P1681P,Synonymous_P1681P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,4:12:66.76:67,0,127:50:37:0.333 chr7 104753252 . T C 36.64 SB;LowDP BaseQRankSum=0.000;DP=11;Dels=0.00;FS=13.222;HRun=5;HaplotypeScore=15.8936;MQ=51;MQ0=0;MQRankSum=-1.034;QD=3.33;ReadPosRankSum=-0.597;SB=0.00;TI=NM_018682,NM_182931;GI=MLL5,MLL5;FC=Synonymous_P1683P,Synonymous_P1683P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,4:11:66.64:67,0,183:51:37:0.364 chr7 104753261 . T C 12.27 SB;LowDP BaseQRankSum=-1.495;DP=8;Dels=0.13;FS=3.680;HRun=2;HaplotypeScore=17.1709;MQ=51;MQ0=0;MQRankSum=-1.495;QD=1.53;ReadPosRankSum=0.198;SB=-0.01;TI=NM_018682,NM_182931;GI=MLL5,MLL5;FC=Synonymous_P1686P,Synonymous_P1686P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,2:7:41.99:42,0,174:51:12:0.286 chr7 105903904 rs2302559;rs11553095 T C 1306.27 PASS BaseQRankSum=-2.080;DP=165;Dels=0.00;FS=2.987;HRun=0;HaplotypeScore=1.7882;MQ=46;MQ0=8;MQRankSum=-5.620;QD=7.92;ReadPosRankSum=-1.705;SB=-702.34;TI=NM_005746;GI=NAMPT;FC=Synonymous_S301S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,69:165:99:1336,0,2442:46:99:0.418 chr7 106508978 rs849389 A G 5891.42 PASS DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.9419;MQ=56;MQ0=0;QD=31.01;SB=-3505.13;TI=NM_002649;GI=PIK3CG;FC=Synonymous_P324P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,189:190:99:5891,442,0:56:99:1.000 chr7 106508987 rs849390 T C 6514.62 PASS DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.3062;MQ=56;MQ0=0;QD=31.17;SB=-3617.32;TI=NM_002649;GI=PIK3CG;FC=Synonymous_D327D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,209:209:99:6515,487,0:56:99:1.000 chr7 106513011 rs1129293 C T 2526.87 PASS BaseQRankSum=1.374;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=1.878;QD=12.27;ReadPosRankSum=0.702;SB=-990.53;TI=NM_002649;GI=PIK3CG;FC=Synonymous_S675S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,97:206:99:2557,0,3053:54:99:0.471 chr7 107002806 rs2269970 A G 1360.91 PASS BaseQRankSum=0.501;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3640;MQ=54;MQ0=0;MQRankSum=0.778;QD=12.26;ReadPosRankSum=0.649;SB=-806.06;TI=NM_006348,NM_181733,NM_001161520;GI=COG5,COG5,COG5;FC=Missense_F330L,Missense_F330L,Missense_F330L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,56:111:99:1391,0,1166:54:99:0.519 chr7 107188719 rs2066735 G T 1385.32 PASS BaseQRankSum=3.572;DP=140;Dels=0.00;FS=4.055;HRun=1;HaplotypeScore=3.6820;MQ=55;MQ0=0;MQRankSum=0.626;QD=9.90;ReadPosRankSum=2.030;SB=-847.08;TI=NM_006348,NM_181733,NM_001161520;GI=COG5,COG5,COG5;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,61:140:99:1415,0,1927:55:99:0.436 chr7 107414419 rs41669 A G 3860.78 PASS DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1444;MQ=53;MQ0=0;QD=30.40;SB=-2103.88;TI=NM_000111;GI=SLC26A3;FC=Synonymous_L651L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:3861,283,0:53:99:1.000 chr7 107593989 rs20556 T C 1436.08 PASS BaseQRankSum=-0.352;DP=98;Dels=0.00;FS=3.968;HRun=1;HaplotypeScore=2.8936;MQ=53;MQ0=0;MQRankSum=1.890;QD=14.65;ReadPosRankSum=-0.082;SB=-542.98;TI=NM_002291;GI=LAMB1;FC=Missense_Q1022R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,52:98:99:1466,0,1175:53:99:0.531 chr7 107603431 rs2230156 A C 3710.95 PASS BaseQRankSum=2.024;DP=263;Dels=0.00;FS=0.974;HRun=1;HaplotypeScore=17.2608;MQ=52;MQ0=0;MQRankSum=1.937;QD=14.11;ReadPosRankSum=1.178;SB=-2554.06;TI=NM_002291;GI=LAMB1;FC=Synonymous_P592P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,158:263:99:3711,0,2337:52:99:0.601 chr7 111474749 . TA T 369.54 R8 BaseQRankSum=0.359;DP=100;FS=0.847;HRun=13;HaplotypeScore=263.9285;MQ=53;MQ0=1;MQRankSum=1.765;QD=3.70;ReadPosRankSum=1.614;SB=-155.79;TI=NM_014705;GI=DOCK4;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,22:99:99:409,0,1284:53:99:0.259 chr7 111512630 rs28593141 T C 1030.98 PASS BaseQRankSum=0.373;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=53;MQ0=0;MQRankSum=-0.834;QD=10.11;ReadPosRankSum=-1.965;SB=-610.25;TI=NM_014705;GI=DOCK4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,43:102:99:1061,0,1489:53:99:0.422 chr7 111541770 . G A 2618.53 PASS BaseQRankSum=2.596;DP=228;Dels=0.00;FS=0.485;HRun=0;HaplotypeScore=4.6815;MQ=52;MQ0=0;MQRankSum=3.074;QD=11.48;ReadPosRankSum=0.276;SB=-1723.15;TI=NM_014705;GI=DOCK4;FC=Missense_T427M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,109:228:99:2649,0,2522:52:99:0.480 chr7 112102355 rs2253962 T G 2069.90 PASS BaseQRankSum=1.059;DP=138;Dels=0.00;FS=0.663;HRun=0;HaplotypeScore=2.7605;MQ=54;MQ0=0;MQRankSum=1.780;QD=15.00;ReadPosRankSum=0.174;SB=-951.28;TI=NM_001197080,NM_001007245,NM_001550,NM_001197079;GI=IFRD1,IFRD1,IFRD1,IFRD1;FC=Synonymous_S226S,Synonymous_S276S,Synonymous_S276S,Synonymous_S226S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,78:138:99:2100,0,1511:54:99:0.565 chr7 112112279 rs2074796 G A 1455.62 PASS BaseQRankSum=0.287;DP=92;Dels=0.00;FS=2.967;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.728;QD=15.82;ReadPosRankSum=0.512;SB=-1008.93;TI=NM_001197080,NM_001007245,NM_001550,NM_001197079;GI=IFRD1,IFRD1,IFRD1,IFRD1;FC=Synonymous_R299R,Synonymous_R349R,Synonymous_R349R,Synonymous_R299R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,62:92:99:1486,0,660:55:99:0.674 chr7 113518434 rs1799999 C A 3700.64 PASS BaseQRankSum=1.821;DP=273;Dels=0.00;FS=6.091;HRun=0;HaplotypeScore=13.7694;MQ=57;MQ0=0;MQRankSum=-0.289;QD=13.56;ReadPosRankSum=0.213;SB=-1692.81;TI=NM_002711;GI=PPP1R3A;FC=Missense_D905Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,134:273:99:3701,0,4066:57:99:0.496 chr7 113518502 rs2974938 A T 10156.88 PASS BaseQRankSum=1.721;DP=317;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3927;MQ=58;MQ0=0;MQRankSum=-0.759;QD=32.04;ReadPosRankSum=1.415;SB=-4974.02;TI=NM_002711;GI=PPP1R3A;FC=Missense_L882H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,316:317:99:10157,752,0:58:99:0.997 chr7 113519719 rs2974944 A T 6417.56 PASS DP=204;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=3.5764;MQ=58;MQ0=0;QD=31.46;SB=-3651.94;TI=NM_002711;GI=PPP1R3A;FC=Missense_N476K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,204:204:99:6418,475,0:58:99:1.000 chr7 113519796 rs2974942 C T 5788.98 PASS DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.8551;MQ=56;MQ0=0;QD=32.89;SB=-2357.97;TI=NM_002711;GI=PPP1R3A;FC=Missense_V451M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,176:176:99:5789,436,0:56:99:1.000 chr7 114330184 . CTTT CT,C 934.77 LowVariantFreq;R8 BaseQRankSum=-0.128;DP=63;FS=2.204;HaplotypeScore=374.2332;MQ=49;MQ0=1;MQRankSum=0.310;QD=14.84;ReadPosRankSum=0.310;SB=-284.33;TI=NR_033766,NM_014491,NM_148900,NM_148898,NM_001172766,NR_033767;GI=FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:31,0,7:62:99:1013,194,175,348,0,446:49:99:0.184 chr7 114331998 rs75054333 G A 187.49 PASS BaseQRankSum=2.675;DP=37;Dels=0.00;FS=1.657;HRun=13;HaplotypeScore=23.9478;MQ=49;MQ0=0;MQRankSum=-0.424;QD=5.07;ReadPosRankSum=-0.978;SB=-93.41;TI=NR_033766,NM_014491,NM_148900,NM_148898,NM_001172766,NR_033767;GI=FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,8:37:99:217,0,566:49:99:0.216 chr7 114331998 rs71825908 GA G 410.01 R8 BaseQRankSum=-0.023;DP=37;FS=1.561;HRun=13;HaplotypeScore=241.1778;MQ=49;MQ0=0;MQRankSum=-0.564;QD=11.08;ReadPosRankSum=1.422;SB=-222.82;TI=NR_033766,NM_014491,NM_148900,NM_148898,NM_001172766,NR_033767;GI=FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,13:37:74.21:449,0,74:49:74:0.361 chr7 114332026 . C A 29.62 SB BaseQRankSum=-3.302;DP=37;Dels=0.00;FS=30.951;HRun=2;HaplotypeScore=19.3523;MQ=49;MQ0=0;MQRankSum=0.053;QD=0.80;ReadPosRankSum=-2.702;SB=-0.01;TI=NR_033766,NM_014491,NM_148900,NM_148898,NM_001172766,NR_033767;GI=FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,10:37:59.61:60,0,750:49:30:0.278 chr7 114332246 rs12705977 G T 5950.00 PASS DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5737;MQ=54;MQ0=0;QD=27.80;SB=-3957.48;TI=NR_033766,NM_014491,NM_148900,NM_148898,NM_001172766,NR_033767;GI=FOXP2,FOXP2,FOXP2,FOXP2,FOXP2,FOXP2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,214:214:99:5950,424,0:54:99:1.000 chr7 116339672 rs35775721 C T 2517.95 PASS BaseQRankSum=1.642;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4697;MQ=56;MQ0=0;MQRankSum=0.434;QD=12.05;ReadPosRankSum=-1.911;SB=-780.21;TI=NM_001127500,NM_000245;GI=MET,MET;FC=Synonymous_S178S,Synonymous_S178S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,91:209:99:2548,0,3402:56:99:0.438 chr7 116435768 rs41736 C T 2095.80 PASS BaseQRankSum=1.128;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4388;MQ=52;MQ0=0;MQRankSum=0.110;QD=11.84;ReadPosRankSum=0.084;SB=-1330.26;TI=NM_001127500,NM_000245;GI=MET,MET;FC=Synonymous_D1304D,Synonymous_D1286D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,89:177:99:2126,0,2107:52:99:0.503 chr7 116436022 rs2023748 G A 1586.39 PASS BaseQRankSum=2.521;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6522;MQ=55;MQ0=0;MQRankSum=3.284;QD=12.49;ReadPosRankSum=1.426;SB=-848.67;TI=NM_001127500,NM_000245;GI=MET,MET;FC=Synonymous_A1357A,Synonymous_A1339A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,61:127:99:1616,0,1732:55:99:0.480 chr7 116436097 rs41737 G A 1724.43 PASS BaseQRankSum=1.418;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5383;MQ=50;MQ0=0;MQRankSum=1.293;QD=11.57;ReadPosRankSum=-0.332;SB=-1056.75;TI=NM_001127500,NM_000245;GI=MET,MET;FC=Synonymous_P1382P,Synonymous_P1364P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,74:149:99:1754,0,1778:50:99:0.497 chr7 116811037 rs193562 T C 2680.23 PASS BaseQRankSum=-0.148;DP=271;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=1.142;QD=9.89;ReadPosRankSum=-0.722;SB=-1804.55;TI=NM_021908,NM_018412;GI=ST7,ST7;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:154,117:271:99:2710,0,3810:54:99:0.432 chr7 117250575 rs1800111 G C 692.91 PASS BaseQRankSum=0.702;DP=65;Dels=0.00;FS=3.468;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;MQRankSum=0.348;QD=10.66;ReadPosRankSum=-0.584;SB=-497.53;TI=NM_000492;GI=CFTR;FC=Missense_L997F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,33:65:99:723,0,748:50:99:0.508 chr7 120428799 rs41623 C A 1758.43 PASS BaseQRankSum=1.411;DP=114;Dels=0.00;FS=0.717;HRun=0;HaplotypeScore=6.3619;MQ=50;MQ0=0;MQRankSum=1.447;QD=15.42;ReadPosRankSum=1.554;SB=-1120.88;TI=NM_012338;GI=TSPAN12;FC=Synonymous_P255P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,71:114:99:1788,0,927:50:99:0.628 chr7 122635024 rs860170 C T 5764.84 PASS DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0868;MQ=55;MQ0=0;QD=29.41;SB=-2997.55;TI=NM_016945;GI=TAS2R16;FC=Missense_R222H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,196:196:99:5765,418,0:55:99:1.000 chr7 126086436 . G GA 278.76 R8 BaseQRankSum=1.858;DP=56;FS=0.000;HRun=10;HaplotypeScore=98.5915;MQ=57;MQ0=0;MQRankSum=1.172;QD=4.98;ReadPosRankSum=0.486;SB=-89.47;TI=NM_000845,NR_028041,NM_001127323;GI=GRM8,GRM8,GRM8;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,16:56:99:318,0,878:57:99:0.291 chr7 126882873 . G A 3005.00 PASS BaseQRankSum=3.616;DP=234;Dels=0.00;FS=2.997;HRun=2;HaplotypeScore=11.5683;MQ=54;MQ0=0;MQRankSum=2.795;QD=12.84;ReadPosRankSum=0.751;SB=-1387.55;TI=NM_000845,NR_028041,NM_001127323;GI=GRM8,GRM8,GRM8;FC=Missense_S129L,Silent,Missense_S129L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,114:234:99:3035,0,3074:54:99:0.487 chr7 127251188 rs712701 T G 4284.76 PASS DP=154;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2820;MQ=51;MQ0=0;QD=27.82;SB=-1973.97;TI=NM_006193;GI=PAX4;FC=Missense_H321P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,154:154:99:4285,310,0:51:99:1.000 chr7 127669857 rs3823994 A T 1276.32 PASS BaseQRankSum=1.044;DP=81;Dels=0.00;FS=4.387;HRun=0;HaplotypeScore=7.1932;MQ=57;MQ0=0;MQRankSum=0.052;QD=15.76;ReadPosRankSum=-0.691;SB=-550.65;TI=NM_014390,NM_022143;GI=SND1,LRRC4;FC=Silent,Synonymous_S279S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,46:81:99:1306,0,849:57:99:0.568 chr7 128415195 rs1799922 T G 2320.16 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=26.98;SB=-1641.46;TI=NM_001708;GI=OPN1SW;FC=Synonymous_G122G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2353,169,0:56:99:1.000 chr7 128487866 rs2249128 T C 4829.48 PASS DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=57;MQ0=0;QD=30.37;SB=-2599.75;TI=NM_001127487,NM_001458;GI=FLNC,FLNC;FC=Synonymous_D1468D,Synonymous_D1468D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,159:159:99:4829,355,0:57:99:1.000 chr7 128587351 . CACTCTGCAGCCGCCCACTCTGCGGCCGCCT C 19489.56 PASS BaseQRankSum=-0.803;DP=193;FS=4.378;HRun=0;HaplotypeScore=86.9111;MQ=44;MQ0=0;MQRankSum=-1.330;QD=100.98;ReadPosRankSum=0.151;SB=-3392.57;TI=NM_001098630,NM_001098629,NM_032643,NM_001098627;GI=IRF5,IRF5,IRF5,IRF5;FC=10AA_Deletion,10AA_Deletion,10AA_Deletion,10AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:52,136:193:99:19490,239,0:44:99:0.723 chr7 129962360 rs1569133 A G 4532.20 PASS DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3244;MQ=55;MQ0=0;QD=29.05;SB=-2770.48;TI=NM_001163446,NM_016352;GI=CPA4,CPA4;FC=Synonymous_A337A,Synonymous_A370A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,156:156:99:4532,328,0:55:99:1.000 chr7 130033630 rs1990790 C T 1803.81 PASS DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9877;MQ=56;MQ0=0;QD=34.69;SB=-380.66 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:99:1837,141,0:56:99:1.000 chr7 130034437 rs4728195 C G 3385.93 PASS DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4023;MQ=58;MQ0=0;QD=37.62;SB=-1237.64 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:3386,256,0:58:99:1.000 chr7 130034695 rs7793239 T C 8725.45 PASS BaseQRankSum=2.006;DP=288;Dels=0.00;FS=3.851;HRun=0;HaplotypeScore=10.9997;MQ=55;MQ0=0;MQRankSum=1.615;QD=30.30;ReadPosRankSum=0.533;SB=-4523.68 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,286:288:99:8725,606,0:55:99:0.993 chr7 130035205 rs11446021 G GA 8120.96 PASS BaseQRankSum=-0.515;DP=272;FS=0.000;HRun=8;HaplotypeScore=177.7122;MQ=60;MQ0=0;MQRankSum=1.127;QD=29.86;ReadPosRankSum=-0.333;SB=-3815.02 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,261:272:99:8121,771,0:60:99:0.981 chr7 130035721 . TA T 346.90 R8 BaseQRankSum=0.227;DP=71;FS=6.553;HRun=15;HaplotypeScore=341.6928;MQ=50;MQ0=0;MQRankSum=-1.486;QD=4.89;ReadPosRankSum=-0.616;SB=-138.48 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,18:71:99:386,0,503:50:99:0.340 chr7 130036691 rs73152868 C T 2920.99 PASS BaseQRankSum=-1.320;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6756;MQ=59;MQ0=0;MQRankSum=-0.660;QD=34.77;ReadPosRankSum=0.206;SB=-1488.40;TI=NM_018718;GI=TSGA14;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,83:84:99:2954,188,0:59:99:0.988 chr7 130036801 rs17133175 G A 3050.92 PASS DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=32.81;SB=-1202.59;TI=NM_018718;GI=TSGA14;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:93:99:3084,229,0:58:99:1.000 chr7 130036873 rs73152869 C A 3003.61 PASS DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=32.65;SB=-1477.03;TI=NM_018718;GI=TSGA14;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:3037,223,0:56:99:1.000 chr7 133580447 rs2042456 G A 997.43 PASS BaseQRankSum=2.775;DP=86;Dels=0.00;FS=0.826;HRun=2;HaplotypeScore=1.8100;MQ=51;MQ0=0;MQRankSum=-0.541;QD=11.60;ReadPosRankSum=1.165;SB=-665.45;TI=NM_021807;GI=EXOC4;FC=Synonymous_V610V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,46:86:99:1027,0,966:51:99:0.535 chr7 133749164 rs6953296 G A 932.59 PASS BaseQRankSum=-0.218;DP=125;Dels=0.00;FS=1.531;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=2.253;QD=7.46;ReadPosRankSum=-1.438;SB=-579.39;TI=NM_021807;GI=EXOC4;FC=Synonymous_Q936Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,41:125:99:963,0,2070:57:99:0.328 chr7 135047703 rs6969632 T C 1519.06 PASS DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.7375;MQ=50;MQ0=0;QD=27.13;SB=-635.28;TI=NM_001190847,NM_001190849,NM_013316,NM_001190850;GI=CNOT4,CNOT4,CNOT4,CNOT4;FC=Synonymous_T621T,Synonymous_T689T,Synonymous_T618T,Synonymous_T692T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:56:99:1552,120,0:50:99:1.000 chr7 135082953 rs77841106 G C 700.01 PASS BaseQRankSum=1.134;DP=71;Dels=0.00;FS=2.236;HRun=0;HaplotypeScore=3.6789;MQ=52;MQ0=0;MQRankSum=0.133;QD=9.86;ReadPosRankSum=0.905;SB=-214.33;TI=NM_001190847,NM_001190849,NM_013316,NM_001190850,NM_001190848,NM_001008225;GI=CNOT4,CNOT4,CNOT4,CNOT4,CNOT4,CNOT4;FC=Missense_L283V,Missense_L280V,Missense_L280V,Missense_L283V,Missense_L283V,Missense_L280V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,27:71:99:730,0,1107:52:99:0.386 chr7 135095270 rs2696877 A G 3529.30 PASS DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8932;MQ=52;MQ0=0;QD=27.57;SB=-2535.81;TI=NM_001190847,NM_001190849,NM_013316,NM_001190850,NM_001190848,NM_001008225;GI=CNOT4,CNOT4,CNOT4,CNOT4,CNOT4,CNOT4;FC=Synonymous_Y272Y,Silent,Silent,Synonymous_Y272Y,Synonymous_Y272Y,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:128:99:3529,250,0:52:99:1.000 chr7 136700809 rs34586275 T C 804.74 PASS BaseQRankSum=0.453;DP=87;Dels=0.00;FS=0.912;HRun=1;HaplotypeScore=20.6652;MQ=56;MQ0=0;MQRankSum=0.515;QD=9.25;ReadPosRankSum=-0.142;SB=-361.96;TI=NM_001006630,NM_001006627,NM_001006632,NM_001006631,NM_000739,NM_001006626,NM_001006629,NM_001006628;GI=CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2,CHRM2;FC=Synonymous_T399T,Synonymous_T399T,Synonymous_T399T,Synonymous_T399T,Synonymous_T399T,Synonymous_T399T,Synonymous_T399T,Synonymous_T399T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,33:87:99:835,0,1537:56:99:0.384 chr7 137801413 rs1872929 A C 2478.21 PASS BaseQRankSum=1.653;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7602;MQ=55;MQ0=0;MQRankSum=-0.472;QD=28.16;ReadPosRankSum=1.260;SB=-1200.26;TI=NM_001190906,NM_005989,NM_001190907;GI=AKR1D1,AKR1D1,AKR1D1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,87:88:99:2511,181,0:55:99:0.989 chr7 138417718 rs3807154 A G 1044.25 PASS BaseQRankSum=-0.716;DP=78;Dels=0.00;FS=3.164;HRun=0;HaplotypeScore=2.7523;MQ=53;MQ0=0;MQRankSum=2.006;QD=13.39;ReadPosRankSum=2.504;SB=-756.84;TI=NM_130841,NM_130840,NM_020632;GI=ATP6V0A4,ATP6V0A4,ATP6V0A4;FC=Synonymous_H604H,Synonymous_H604H,Synonymous_H604H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,46:78:99:1074,0,691:53:99:0.590 chr7 138418910 rs1026435 G A 905.90 PASS BaseQRankSum=-0.737;DP=73;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.8938;MQ=56;MQ0=0;MQRankSum=1.158;QD=12.41;ReadPosRankSum=0.748;SB=-359.51;TI=NM_130841,NM_130840,NM_020632;GI=ATP6V0A4,ATP6V0A4,ATP6V0A4;FC=Synonymous_F554F,Synonymous_F554F,Synonymous_F554F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,33:73:99:936,0,983:56:99:0.452 chr7 138434066 rs11324444 GA G 108.04 LowVariantFreq;R8 BaseQRankSum=0.025;DP=75;FS=2.753;HRun=14;HaplotypeScore=252.0614;MQ=49;MQ0=0;MQRankSum=-0.725;QD=1.44;ReadPosRankSum=1.132;SB=-41.87;TI=NM_130841,NM_130840,NM_020632;GI=ATP6V0A4,ATP6V0A4,ATP6V0A4;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,11:75:99:147,0,873:49:99:0.175 chr7 138455988 rs10258719 A G 676.21 PASS BaseQRankSum=-0.535;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=47;MQ0=0;MQRankSum=1.291;QD=9.52;ReadPosRankSum=0.907;SB=-451.07;TI=NM_130841,NM_130840,NM_020632;GI=ATP6V0A4,ATP6V0A4,ATP6V0A4;FC=Missense_V2A,Missense_V2A,Missense_V2A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,33:71:99:706,0,785:47:99:0.478 chr7 138732457 rs3735008 G A 1846.60 PASS BaseQRankSum=-0.768;DP=134;Dels=0.00;FS=5.533;HRun=2;HaplotypeScore=11.6684;MQ=54;MQ0=0;MQRankSum=2.835;QD=13.78;ReadPosRankSum=1.584;SB=-717.68;TI=NM_020119;GI=ZC3HAV1;FC=Synonymous_F864F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,70:134:99:1877,0,1664:54:99:0.522 chr7 138732497 rs3735007 G A 1496.01 PASS BaseQRankSum=-0.020;DP=102;Dels=0.00;FS=0.799;HRun=1;HaplotypeScore=1.8907;MQ=56;MQ0=0;MQRankSum=1.808;QD=14.67;ReadPosRankSum=0.114;SB=-590.14;TI=NM_020119;GI=ZC3HAV1;FC=Missense_T851I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,53:102:99:1526,0,1335:56:99:0.520 chr7 138740037 rs2297236 G C 775.75 PASS BaseQRankSum=1.548;DP=71;Dels=0.00;FS=1.942;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.722;QD=10.93;ReadPosRankSum=0.458;SB=-506.09;TI=NM_020119;GI=ZC3HAV1;FC=Missense_Q701E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,31:71:99:806,0,992:55:99:0.437 chr7 138916540 . T G 11.92 LowVariantFreq;SB;LowDP BaseQRankSum=-1.061;DP=11;Dels=0.00;FS=8.751;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=-1.768;QD=1.08;ReadPosRankSum=-2.239;SB=-0.01;TI=NM_173569;GI=UBN2;FC=Missense_L104V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,2:11:41.62:42,0,222:54:12:0.182 chr7 138916541 . T G 23.75 LowVariantFreq;SB;LowDP BaseQRankSum=-1.061;DP=11;Dels=0.00;FS=8.751;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=-1.768;QD=2.16;ReadPosRankSum=-2.239;SB=-0.01;TI=NM_173569;GI=UBN2;FC=Missense_L104W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,2:11:53.72:54,0,225:54:24:0.182 chr7 139653196 rs5768 A C 2892.20 PASS DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=26.29;SB=-1986.11;TI=NM_001166254,NM_001130966,NM_001061,NM_001166253,NM_030984,NR_029394;GI=TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1,TBXAS1;FC=Missense_E93D,Missense_E161D,Missense_E161D,Missense_E207D,Missense_E161D,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:2925,208,0:51:99:1.000 chr7 140434570 . T A 11.53 LowDP BaseQRankSum=-0.572;DP=8;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.9490;MQ=43;MQ0=0;MQRankSum=-1.589;QD=1.44;ReadPosRankSum=0.000;SB=-18.69;TI=NM_004333;GI=BRAF;FC=Missense_I710F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,2:8:41.21:41,0,91:43:12:0.250 chr7 141464765 rs2270009 C T 2078.24 PASS BaseQRankSum=0.822;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=59;MQ0=0;MQRankSum=1.328;QD=12.37;ReadPosRankSum=-1.053;SB=-926.89;TI=NM_016943;GI=TAS2R3;FC=Synonymous_G269G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,73:168:99:2108,0,2508:59:99:0.435 chr7 141672604 rs10246939 T C 1343.99 PASS BaseQRankSum=-0.301;DP=46;Dels=0.00;FS=3.405;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-1.055;QD=29.22;ReadPosRankSum=-1.506;SB=-762.78;TI=NM_176817;GI=TAS2R38;FC=Missense_I296V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,45:46:64.70:1377,65,0:58:65:0.978 chr7 141673345 rs713598 C G 1464.60 PASS BaseQRankSum=1.155;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7876;MQ=58;MQ0=0;MQRankSum=-1.283;QD=27.12;ReadPosRankSum=0.898;SB=-769.08;TI=NM_176817;GI=TAS2R38;FC=Missense_A49P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,53:54:74.36:1498,74,0:58:74:0.981 chr7 142197835 rs17280 C T 280.25 LowGQ;LowDP DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=35.03;SB=-31.52 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,8:8:24.08:313,24,0:60:24:1.000 chr7 142239973 . G C 1334.06 PASS BaseQRankSum=2.437;DP=132;Dels=0.00;FS=1.417;HRun=0;HaplotypeScore=4.9298;MQ=53;MQ0=0;MQRankSum=0.618;QD=10.11;ReadPosRankSum=-0.720;SB=-706.11 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,54:132:99:1364,0,2055:53:99:0.409 chr7 142460313 rs6666 T C 859.99 PASS BaseQRankSum=1.447;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.013;QD=15.64;ReadPosRankSum=-1.395;SB=-499.58;TI=NM_002769;GI=PRSS1;FC=Synonymous_D162D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,34:55:99:890,0,581:57:99:0.618 chr7 142460865 rs6667 T C 763.41 PASS BaseQRankSum=2.676;DP=56;Dels=0.00;FS=1.064;HRun=0;HaplotypeScore=3.7876;MQ=54;MQ0=0;MQRankSum=1.736;QD=13.63;ReadPosRankSum=-0.419;SB=-565.23;TI=NM_002769;GI=PRSS1;FC=Synonymous_N246N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,36:56:99:793,0,429:54:99:0.643 chr7 142481234 rs57725689 T C 751.98 PASS DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=51;MQ0=0;QD=30.08;SB=-314.76;TI=NR_001296,NM_002770;GI=TRY6,PRSS2;FC=Silent,Synonymous_Y88Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,25:25:57.19:785,57,0:51:57:1.000 chr7 142481330 . C A 3.90 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.736;QD=1.30;ReadPosRankSum=-0.736;SB=-0.01;TI=NR_001296,NM_002770;GI=TRY6,PRSS2;FC=Silent,Nonsense_C120X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:31.62:32,0,68:60:4:0.333 chr7 142481376 rs73740310 T A 42.84 LowGQX;LowGQ;SB;LowDP DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47;MQ0=0;QD=21.42;SB=-0.01;TI=NR_001296,NM_002770;GI=TRY6,PRSS2;FC=Silent,Missense_W136R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,2:2:6.02:74,6,0:47:6:1.000 chr7 142481807 rs4726591 C T 1496.96 PASS DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=26.26;SB=-884.32;TI=NR_001296;GI=TRY6;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:57:99:1530,108,0:55:99:1.000 chr7 142481867 rs59320698 C G 1642.03 PASS DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=27.83;SB=-1025.58;TI=NR_001296;GI=TRY6;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1675,120,0:55:99:1.000 chr7 142482217 . C T 29.42 SB;LowDP BaseQRankSum=0.372;DP=18;Dels=0.00;FS=2.884;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=-3.027;QD=1.63;ReadPosRankSum=-2.602;SB=-0.01;TI=NR_001296;GI=TRY6;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,4:18:59.41:59,0,469:54:29:0.222 chr7 142482237 . G C 96.83 SB BaseQRankSum=0.428;DP=22;Dels=0.00;FS=5.909;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=1;MQRankSum=-3.542;QD=4.40;ReadPosRankSum=-2.764;SB=-0.01;TI=NR_001296;GI=TRY6;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,7:22:99:127,0,470:52:97:0.318 chr7 142482245 . C G 93.82 SB BaseQRankSum=-0.662;DP=22;Dels=0.00;FS=5.746;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=1;MQRankSum=-3.542;QD=4.26;ReadPosRankSum=-2.297;SB=-0.01;TI=NR_001296;GI=TRY6;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,7:22:99:124,0,510:52:94:0.318 chr7 142482250 . T C 56.83 SB BaseQRankSum=-0.367;DP=26;Dels=0.00;FS=5.959;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=2;MQRankSum=-3.633;QD=2.19;ReadPosRankSum=-1.367;SB=-0.01;TI=NR_001296;GI=TRY6;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,8:26:86.82:87,0,510:52:57:0.308 chr7 142482291 . G A 84.80 SB BaseQRankSum=0.117;DP=35;Dels=0.00;FS=12.799;HRun=2;HaplotypeScore=0.0000;MQ=51;MQ0=2;MQRankSum=-3.617;QD=2.42;ReadPosRankSum=3.057;SB=-0.01;TI=NR_001296;GI=TRY6;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,8:35:99:115,0,648:51:85:0.229 chr7 142482292 . A C 84.79 SB BaseQRankSum=0.023;DP=35;Dels=0.00;FS=12.799;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=2;MQRankSum=-3.757;QD=2.42;ReadPosRankSum=3.151;SB=-0.01;TI=NR_001296;GI=TRY6;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,8:35:99:115,0,658:51:85:0.229 chr7 143017807 rs10282312 G T 2302.28 PASS BaseQRankSum=2.396;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=49;MQ0=0;MQRankSum=1.123;QD=25.30;ReadPosRankSum=-1.178;SB=-1643.05;TI=NM_000083;GI=CLCN1;FC=Missense_G118W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,89:91:99:2335,166,0:49:99:0.978 chr7 143036337 rs2272252 C T 3749.04 PASS DP=139;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=48;MQ0=0;QD=26.97;SB=-2406.74;TI=NM_000083;GI=CLCN1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,139:139:99:3749,265,0:48:99:1.000 chr7 143043240 rs13438232 C T 5775.97 PASS BaseQRankSum=2.047;DP=212;Dels=0.00;FS=3.485;HRun=2;HaplotypeScore=17.6971;MQ=52;MQ0=0;MQRankSum=0.474;QD=27.25;ReadPosRankSum=0.446;SB=-3440.78;TI=NM_000083;GI=CLCN1;FC=Missense_P727L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,209:212:99:5776,387,0:52:99:0.986 chr7 144095600 rs2699503 A G 849.42 PASS BaseQRankSum=1.195;DP=86;Dels=0.00;FS=0.879;HRun=3;HaplotypeScore=9.2965;MQ=56;MQ0=0;MQRankSum=-0.890;QD=9.88;ReadPosRankSum=-3.088;SB=-436.00;TI=NM_001080413;GI=NOBOX;FC=Missense_F400L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,37:86:99:879,0,1323:56:99:0.430 chr7 144096839 rs757388 A G 1448.23 PASS BaseQRankSum=-0.453;DP=97;Dels=0.00;FS=0.840;HRun=1;HaplotypeScore=6.3368;MQ=56;MQ0=0;MQRankSum=0.359;QD=14.93;ReadPosRankSum=1.351;SB=-523.55;TI=NM_001080413;GI=NOBOX;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,53:97:99:1478,0,985:56:99:0.546 chr7 144098992 rs727714 G A 1292.95 PASS BaseQRankSum=0.442;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7815;MQ=51;MQ0=0;MQRankSum=1.489;QD=12.43;ReadPosRankSum=0.173;SB=-950.66;TI=NM_001080413;GI=NOBOX;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,58:104:99:1323,0,1163:51:99:0.558 chr7 144107255 . A G 357.28 PASS BaseQRankSum=0.477;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=1.337;QD=5.03;ReadPosRankSum=-1.565;SB=-149.56 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,18:71:99:387,0,1362:55:99:0.257 chr7 146805228 rs35167289 T TG 856.09 PASS BaseQRankSum=-4.150;DP=36;FS=0.000;HRun=0;HaplotypeScore=22.8832;MQ=61;MQ0=0;MQRankSum=0.889;QD=23.78;ReadPosRankSum=-0.560;SB=-284.94;TI=NM_014141;GI=CNTNAP2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,22:36:99:895,0,359:61:99:0.611 chr7 147092861 rs34592169 G A 1342.81 PASS BaseQRankSum=1.493;DP=87;Dels=0.00;FS=3.063;HRun=1;HaplotypeScore=5.4571;MQ=54;MQ0=0;MQRankSum=-0.501;QD=15.43;ReadPosRankSum=-0.040;SB=-915.08;TI=NM_014141,NR_031690;GI=CNTNAP2,MIR548I4;FC=Synonymous_A553A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,56:87:99:1373,0,759:54:99:0.644 chr7 148106475 rs72268642 C CTT 3463.40 PASS BaseQRankSum=3.196;DP=82;FS=1.696;HRun=3;HaplotypeScore=714.1624;MQ=57;MQ0=0;MQRankSum=-0.757;QD=42.24;ReadPosRankSum=4.051;SB=-1713.39;TI=NM_014141;GI=CNTNAP2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:10,72:82:99:3463,154,0:57:99:0.878 chr7 148106477 rs72526742 C CTG 3559.87 PASS BaseQRankSum=2.486;DP=82;FS=2.106;HRun=0;HaplotypeScore=709.7146;MQ=57;MQ0=0;MQRankSum=0.657;QD=43.41;ReadPosRankSum=3.175;SB=-1770.77;TI=NM_014141;GI=CNTNAP2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:9,73:82:99:3560,203,0:57:99:0.890 chr7 148106490 rs9648691 G A 2423.55 PASS DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=56;MQ0=0;QD=29.56;SB=-1376.13;TI=NM_014141;GI=CNTNAP2;FC=Synonymous_A1241A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2457,181,0:56:99:1.000 chr7 148525904 rs2302427 C G 628.09 PASS BaseQRankSum=1.122;DP=66;Dels=0.00;FS=0.955;HRun=0;HaplotypeScore=1.8773;MQ=47;MQ0=0;MQRankSum=-1.870;QD=9.52;ReadPosRankSum=1.437;SB=-499.25;TI=NM_004456,NM_152998;GI=EZH2,EZH2;FC=Missense_D185H,Missense_D146H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,32:66:99:658,0,799:47:99:0.492 chr7 148543693 rs3214332 TA T 1117.91 R8 BaseQRankSum=3.283;DP=81;FS=2.069;HRun=11;HaplotypeScore=179.9491;MQ=58;MQ0=0;MQRankSum=1.611;QD=13.80;ReadPosRankSum=0.797;SB=-485.56;TI=NM_004456,NM_152998;GI=EZH2,EZH2;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,46:81:99:1157,0,496:58:99:0.622 chr7 150556002 rs1049748 T C 2470.89 PASS BaseQRankSum=0.645;DP=86;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5489;MQ=58;MQ0=0;MQRankSum=-0.564;QD=28.73;ReadPosRankSum=-0.765;SB=-1401.62;TI=NM_001091;GI=ABP1;FC=Synonymous_P574P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,85:86:99:2504,150,0:58:99:0.988 chr7 150556055 rs6943147 C G 2847.24 PASS DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=29.66;SB=-1584.65;TI=NM_001091;GI=ABP1;FC=Missense_T592R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,96:96:99:2880,214,0:54:99:1.000 chr7 150556056 rs6943420 G C 2767.06 PASS DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.53;SB=-1604.06;TI=NM_001091;GI=ABP1;FC=Synonymous_T592T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:2800,208,0:54:99:1.000 chr7 150645534 rs1805123 T G 872.71 PASS BaseQRankSum=1.476;DP=83;Dels=0.00;FS=0.881;HRun=0;HaplotypeScore=37.6261;MQ=46;MQ0=0;MQRankSum=0.418;QD=10.51;ReadPosRankSum=0.947;SB=-566.83;TI=NM_172057,NM_000238;GI=KCNH2,KCNH2;FC=Missense_K557T,Missense_K897T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,39:83:99:903,0,980:46:99:0.476 chr7 150648198 rs1137617 A G 555.82 SB BaseQRankSum=0.377;DP=31;Dels=0.00;FS=14.974;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.687;QD=17.93;ReadPosRankSum=1.647;SB=-0.01;TI=NM_172057,NM_000238,NM_172056;GI=KCNH2,KCNH2,KCNH2;FC=Synonymous_Y312Y,Synonymous_Y652Y,Synonymous_Y652Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,17:31:99:586,0,336:57:99:0.548 chr7 150695726 rs1549758 T C 3772.64 PASS DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5487;MQ=57;MQ0=0;QD=31.70;SB=-1617.96;TI=NM_000603,NM_001160111,NM_001160109,NM_001160110;GI=NOS3,NOS3,NOS3,NOS3;FC=Synonymous_D258D,Synonymous_D258D,Synonymous_D258D,Synonymous_D258D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,118:119:99:3773,277,0:57:99:1.000 chr7 150696111 rs1799983 T G 2050.73 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6381;MQ=55;MQ0=0;QD=29.30;SB=-1125.72;TI=NM_000603,NM_001160111,NM_001160109,NM_001160110;GI=NOS3,NOS3,NOS3,NOS3;FC=Missense_D298E,Missense_D298E,Missense_D298E,Missense_D298E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:70:99:2084,153,0:55:99:1.000 chr7 150700291 rs79467411 G A 816.99 PASS BaseQRankSum=1.057;DP=55;Dels=0.00;FS=5.429;HRun=0;HaplotypeScore=4.6818;MQ=54;MQ0=0;MQRankSum=0.902;QD=14.85;ReadPosRankSum=0.043;SB=-442.33;TI=NM_000603,NM_001160111,NM_001160109,NM_001160110;GI=NOS3,NOS3,NOS3,NOS3;FC=Silent,Missense_C602Y,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,33:55:99:847,0,496:54:99:0.600 chr7 150704250 rs2566514 C G 2835.70 PASS BaseQRankSum=1.785;DP=268;Dels=0.00;FS=0.456;HRun=1;HaplotypeScore=22.0129;MQ=55;MQ0=0;MQRankSum=2.265;QD=10.58;ReadPosRankSum=1.193;SB=-1630.01;TI=NM_000603;GI=NOS3;FC=Synonymous_A666A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:153,113:268:99:2866,0,3917:55:99:0.425 chr7 150706014 . G A 605.93 PASS BaseQRankSum=0.666;DP=64;Dels=0.00;FS=2.145;HRun=0;HaplotypeScore=2.8033;MQ=54;MQ0=0;MQRankSum=1.083;QD=9.47;ReadPosRankSum=0.706;SB=-442.78;TI=NM_000603;GI=NOS3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,30:64:99:636,0,914:54:99:0.469 chr7 150709571 rs7830 G T 1582.82 PASS BaseQRankSum=1.112;DP=144;Dels=0.00;FS=0.701;HRun=0;HaplotypeScore=6.4425;MQ=55;MQ0=0;MQRankSum=0.506;QD=10.99;ReadPosRankSum=-1.592;SB=-517.47;TI=NM_000603,NM_173681;GI=NOS3,ATG9B;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,62:144:99:1613,0,2228:55:99:0.431 chr7 150747937 rs11977275 C A 1943.60 PASS BaseQRankSum=1.435;DP=193;Dels=0.00;FS=6.490;HRun=1;HaplotypeScore=39.1341;MQ=56;MQ0=0;MQRankSum=-0.242;QD=10.07;ReadPosRankSum=-0.820;SB=-1172.74;TI=NM_020321,NM_020322,NM_004769;GI=ACCN3,ACCN3,ACCN3;FC=Synonymous_P302P,Synonymous_P302P,Synonymous_P302P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,80:193:99:1974,0,2982:56:99:0.415 chr7 150878260 rs2253592 C G 1442.28 PASS BaseQRankSum=1.075;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5758;MQ=57;MQ0=0;MQRankSum=1.137;QD=13.35;ReadPosRankSum=0.191;SB=-615.86;TI=NM_001142460,NM_001142459,NM_080871;GI=ASB10,ASB10,ASB10;FC=Synonymous_A290A,Synonymous_A290A,Synonymous_A275A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,55:108:99:1472,0,1333:57:99:0.509 chr7 151478453 . C T 192.42 PASS BaseQRankSum=-0.094;DP=24;Dels=0.00;FS=2.172;HRun=0;HaplotypeScore=5.1584;MQ=55;MQ0=0;MQRankSum=-0.094;QD=8.02;ReadPosRankSum=-1.228;SB=-24.96;TI=NM_001040633,NM_016203;GI=PRKAG2,PRKAG2;FC=Missense_R40Q,Missense_R84Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,9:24:99:222,0,361:55:99:0.391 chr7 151680072 rs6960270 T C 3715.71 PASS DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=29.49;SB=-1697.73;TI=NM_145292,NR_033169;GI=GALNTL5,GALNTL5;FC=Missense_C124R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:126:99:3716,268,0:56:99:1.000 chr7 151877127 rs13231116 G T 1318.89 PASS BaseQRankSum=1.439;DP=105;Dels=0.00;FS=3.622;HRun=1;HaplotypeScore=0.9998;MQ=56;MQ0=0;MQRankSum=0.939;QD=12.56;ReadPosRankSum=0.651;SB=-859.61;TI=NM_170606;GI=MLL3;FC=Missense_P2412T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,52:105:99:1349,0,1519:56:99:0.495 chr7 151927021 rs28522267;rs76778303 C A 302.71 PASS BaseQRankSum=1.244;DP=30;Dels=0.00;FS=13.752;HRun=1;HaplotypeScore=7.9595;MQ=44;MQ0=1;MQRankSum=-4.037;QD=10.09;ReadPosRankSum=2.990;SB=-160.67;TI=NM_170606;GI=MLL3;FC=Missense_C988F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,15:30:99:333,0,456:44:99:0.500 chr7 151927023 rs58528565 G C 5.82 LowGQX;LowVariantFreq BaseQRankSum=0.414;DP=35;Dels=0.00;FS=2.799;HRun=0;HaplotypeScore=7.9595;MQ=45;MQ0=1;MQRankSum=-1.793;QD=0.17;ReadPosRankSum=1.407;SB=-12.66;TI=NM_170606;GI=MLL3;FC=Nonsense_Y987X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,4:34:34.50:34,0,814:45:6:0.118 chr7 151927026 rs28439884;rs76745454;rs78654179 T C 174.92 PASS BaseQRankSum=0.621;DP=37;Dels=0.00;FS=11.991;HRun=0;HaplotypeScore=9.9328;MQ=44;MQ0=1;MQRankSum=-2.936;QD=4.73;ReadPosRankSum=2.701;SB=-104.61;TI=NM_170606;GI=MLL3;FC=Synonymous_P986P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,12:37:99:205,0,747:44:99:0.324 chr7 151932908 rs75329119;rs79288743 T C 647.49 PASS BaseQRankSum=0.318;DP=173;Dels=0.00;FS=13.709;HRun=0;HaplotypeScore=17.2383;MQ=40;MQ0=16;MQRankSum=-1.211;QD=3.74;ReadPosRankSum=5.088;SB=-289.22;TI=NM_170606;GI=MLL3;FC=Synonymous_L921L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,53:173:99:677,0,2665:40:99:0.306 chr7 151932945 . C T 4.60 LowGQX;LowVariantFreq;SB BaseQRankSum=-0.079;DP=188;Dels=0.00;FS=5.865;HRun=1;HaplotypeScore=26.3109;MQ=39;MQ0=22;MQRankSum=-2.930;QD=0.02;ReadPosRankSum=-0.791;SB=-0.01;TI=NM_170606;GI=MLL3;FC=Missense_R909K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:161,27:188:32.75:33,0,3535:39:5:0.144 chr7 151932965 rs78472109 C T 38.39 LowVariantFreq;SB BaseQRankSum=0.005;DP=197;Dels=0.00;FS=6.633;HRun=0;HaplotypeScore=22.8867;MQ=39;MQ0=21;MQRankSum=-3.300;QD=0.19;ReadPosRankSum=0.771;SB=-0.01;TI=NM_170606;GI=MLL3;FC=Synonymous_S902S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:166,31:197:68.38:68,0,3954:39:38:0.157 chr7 151935798 . G T 379.32 PASS BaseQRankSum=2.098;DP=91;Dels=0.00;FS=2.145;HRun=3;HaplotypeScore=1.8650;MQ=38;MQ0=7;MQRankSum=-2.493;QD=4.17;ReadPosRankSum=0.941;SB=-276.63;TI=NM_170606;GI=MLL3;FC=Synonymous_I882I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,29:91:99:409,0,1064:38:99:0.319 chr7 151935799 . A G 376.32 PASS BaseQRankSum=3.076;DP=91;Dels=0.00;FS=2.146;HRun=1;HaplotypeScore=1.8650;MQ=38;MQ0=7;MQRankSum=-2.427;QD=4.14;ReadPosRankSum=1.063;SB=-276.63;TI=NM_170606;GI=MLL3;FC=Missense_I882T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,29:91:99:406,0,1080:38:99:0.319 chr7 151935866 . G A 538.55 PASS BaseQRankSum=1.975;DP=117;Dels=0.00;FS=4.169;HRun=0;HaplotypeScore=5.3863;MQ=36;MQ0=8;MQRankSum=-2.633;QD=4.60;ReadPosRankSum=-1.470;SB=-362.94;TI=NM_170606;GI=MLL3;FC=Missense_P860S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,41:117:99:569,0,1500:36:99:0.350 chr7 151935871 . C A 474.02 PASS BaseQRankSum=1.536;DP=105;Dels=0.00;FS=4.451;HRun=1;HaplotypeScore=5.3863;MQ=37;MQ0=8;MQRankSum=-1.994;QD=4.51;ReadPosRankSum=-1.686;SB=-332.04;TI=NM_170606;GI=MLL3;FC=Missense_W858L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,37:105:99:504,0,1350:37:99:0.352 chr7 151935888 . T A 293.07 PASS BaseQRankSum=3.261;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4880;MQ=37;MQ0=7;MQRankSum=-3.116;QD=3.71;ReadPosRankSum=-1.365;SB=-120.47;TI=NM_170606;GI=MLL3;FC=Synonymous_T852T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,25:79:99:323,0,1150:37:99:0.316 chr7 151935906 . A G 69.50 PASS BaseQRankSum=-1.605;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=43;MQ0=4;MQRankSum=-2.981;QD=2.04;ReadPosRankSum=-0.841;SB=-48.92;TI=NM_170606;GI=MLL3;FC=Synonymous_A846A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,9:34:99:99,0,564:43:70:0.273 chr7 151962176 rs62478356;rs77659434 T A 26.69 LowVariantFreq BaseQRankSum=0.587;DP=40;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=37;MQ0=0;MQRankSum=-1.837;QD=0.67;ReadPosRankSum=-0.284;SB=-23.22;TI=NM_170606;GI=MLL3;FC=Synonymous_P377P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,6:40:56.67:57,0,655:37:27:0.150 chr7 151970856 rs10454320 T A 432.23 PASS BaseQRankSum=-1.014;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37;MQ0=14;MQRankSum=-3.042;QD=11.68;ReadPosRankSum=-1.906;SB=-269.52;TI=NM_170606;GI=MLL3;FC=Missense_T316S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,33:37:80.91:462,0,81:37:81:0.892 chr7 151970877 . G A 48.67 LowVariantFreq BaseQRankSum=0.932;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=38;MQ0=12;MQRankSum=-1.826;QD=1.39;ReadPosRankSum=-0.335;SB=-43.61;TI=NM_170606;GI=MLL3;FC=Missense_P309S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,6:35:78.67:79,0,512:38:49:0.171 chr7 151970931 rs56850341;rs74363400 G A 77.81 SB;LowDP BaseQRankSum=0.361;DP=17;Dels=0.00;FS=3.522;HRun=2;HaplotypeScore=0.8941;MQ=30;MQ0=8;MQRankSum=-0.361;QD=4.58;ReadPosRankSum=1.652;SB=-0.01;TI=NM_170606;GI=MLL3;FC=Missense_L291F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,12:17:99:108,0,142:30:78:0.706 chr7 152055766 . GA G 214.25 R8 BaseQRankSum=-2.101;DP=62;FS=2.626;HRun=13;HaplotypeScore=119.1167;MQ=52;MQ0=0;MQRankSum=-0.863;QD=3.46;ReadPosRankSum=-1.167;SB=-106.00;TI=NM_170606;GI=MLL3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,16:62:99:253,0,670:52:99:0.281 chr7 152346007 rs3218536 C T 1954.30 PASS BaseQRankSum=-0.730;DP=170;Dels=0.00;FS=1.940;HRun=0;HaplotypeScore=10.0970;MQ=56;MQ0=0;MQRankSum=1.878;QD=11.50;ReadPosRankSum=-0.749;SB=-1143.15;TI=NM_005431;GI=XRCC2;FC=Missense_R188H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,78:170:99:1984,0,2374:56:99:0.464 chr7 153750019 . C T 193.26 PASS BaseQRankSum=1.467;DP=22;Dels=0.00;FS=4.738;HRun=0;HaplotypeScore=0.9789;MQ=48;MQ0=0;MQRankSum=1.399;QD=8.78;ReadPosRankSum=-0.648;SB=-21.96;TI=NM_001039350,NM_130797;GI=DPP6,DPP6;FC=Silent,Synonymous_G38G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,8:22:99:223,0,331:48:99:0.364 chr7 154429560 rs11243339 C T 1562.15 PASS BaseQRankSum=1.169;DP=135;Dels=0.00;FS=1.388;HRun=0;HaplotypeScore=8.2581;MQ=52;MQ0=0;MQRankSum=-1.001;QD=11.57;ReadPosRankSum=1.292;SB=-1096.65;TI=NM_001039350,NM_130797,NM_001936;GI=DPP6,DPP6,DPP6;FC=Synonymous_Y155Y,Synonymous_Y219Y,Synonymous_Y157Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,69:135:99:1592,0,1711:52:99:0.511 chr7 154461112 rs3807218 A G 2178.62 PASS DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=28.67;SB=-938.09;TI=NM_001039350,NM_130797,NM_001936;GI=DPP6,DPP6,DPP6;FC=Synonymous_K177K,Synonymous_K241K,Synonymous_K179K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2212,160,0:57:99:1.000 chr7 154667628 rs2293353 A G 670.67 PASS BaseQRankSum=1.492;DP=62;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.181;QD=10.82;ReadPosRankSum=-2.327;SB=-393.97;TI=NM_001039350,NM_130797,NM_001936;GI=DPP6,DPP6,DPP6;FC=Synonymous_P568P,Synonymous_P632P,Synonymous_P570P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,28:62:99:701,0,839:55:99:0.452 chr7 154667643 rs2230064 G A 820.27 PASS BaseQRankSum=0.492;DP=83;Dels=0.00;FS=0.840;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=1.162;QD=9.88;ReadPosRankSum=-1.521;SB=-586.84;TI=NM_001039350,NM_130797,NM_001936;GI=DPP6,DPP6,DPP6;FC=Synonymous_V573V,Synonymous_V637V,Synonymous_V575V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,36:83:99:850,0,1143:52:99:0.434 chr7 154679447 rs940378 G A 3642.22 PASS DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=51;MQ0=0;QD=25.12;SB=-2592.95;TI=NM_001039350,NM_130797,NM_001936;GI=DPP6,DPP6,DPP6;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,145:145:99:3642,256,0:51:99:1.000 chr7 155255385 rs12674067 C T 186.39 SB BaseQRankSum=0.537;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7396;MQ=58;MQ0=0;MQRankSum=1.528;QD=9.32;ReadPosRankSum=0.950;SB=-0.01;TI=NM_001427;GI=EN2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,8:20:99:216,0,372:58:99:0.421 chr7 157000176 rs2301914 T C 2814.89 PASS BaseQRankSum=1.758;DP=204;Dels=0.00;FS=10.666;HRun=1;HaplotypeScore=17.7160;MQ=54;MQ0=0;MQRankSum=0.645;QD=13.80;ReadPosRankSum=1.358;SB=-2043.48;TI=NM_014671;GI=UBE3C;FC=Synonymous_Y501Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,120:204:99:2845,0,2202:54:99:0.588 chr7 158827326 rs2071624 G A 981.49 PASS BaseQRankSum=-0.333;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=-2.207;QD=10.33;ReadPosRankSum=-1.045;SB=-649.97;TI=NM_003382;GI=VIPR2;FC=Synonymous_N275N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,42:95:99:1011,0,1347:52:99:0.442 chr7 158851234 rs2098349 T G 4266.04 PASS DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9726;MQ=56;MQ0=0;QD=31.14;SB=-1930.19;TI=NM_003382;GI=VIPR2;FC=Synonymous_T131T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:4266,319,0:56:99:1.000 chr8 1514009 rs2301963 C A 2433.19 PASS BaseQRankSum=1.364;DP=173;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3820;MQ=56;MQ0=0;MQRankSum=0.836;QD=14.06;ReadPosRankSum=-2.794;SB=-1418.24;TI=NM_004745;GI=DLGAP2;FC=Missense_P384Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,99:173:99:2463,0,1865:56:99:0.572 chr8 1616718 rs2235112 A G 2880.71 PASS BaseQRankSum=2.519;DP=211;Dels=0.00;FS=4.066;HRun=0;HaplotypeScore=11.0020;MQ=53;MQ0=0;MQRankSum=0.629;QD=13.65;ReadPosRankSum=1.365;SB=-1675.79;TI=NM_004745;GI=DLGAP2;FC=Synonymous_E598E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,116:211:99:2911,0,2360:53:99:0.550 chr8 1806229 rs4875950 A C 659.24 PASS BaseQRankSum=-0.317;DP=85;Dels=0.00;FS=1.880;HRun=4;HaplotypeScore=4.6203;MQ=51;MQ0=0;MQRankSum=1.154;QD=7.76;ReadPosRankSum=0.372;SB=-315.30;TI=NM_014629;GI=ARHGEF10;FC=Synonymous_P47P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,30:85:99:689,0,1221:51:99:0.353 chr8 1857548 rs2294038 T C 877.73 PASS BaseQRankSum=1.034;DP=73;Dels=0.00;FS=4.554;HRun=0;HaplotypeScore=1.7262;MQ=55;MQ0=0;MQRankSum=-0.072;QD=12.02;ReadPosRankSum=-0.746;SB=-623.87;TI=NM_014629;GI=ARHGEF10;FC=Synonymous_Y685Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,39:73:99:908,0,790:55:99:0.534 chr8 1877480 rs17683288 T G 1132.34 PASS BaseQRankSum=2.333;DP=119;Dels=0.00;FS=0.689;HRun=0;HaplotypeScore=4.4704;MQ=52;MQ0=0;MQRankSum=-1.546;QD=9.52;ReadPosRankSum=-1.385;SB=-787.28;TI=NM_014629;GI=ARHGEF10;FC=Missense_S984A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,52:119:99:1162,0,1629:52:99:0.437 chr8 1905132 rs3735876 G A 2201.27 PASS BaseQRankSum=0.170;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.2189;MQ=56;MQ0=0;MQRankSum=-1.184;QD=12.80;ReadPosRankSum=-1.346;SB=-1212.76;TI=NM_014629;GI=ARHGEF10;FC=Synonymous_S1246S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,88:172:99:2231,0,2002:56:99:0.512 chr8 2796277 rs585000 C T 1452.13 PASS DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=59;MQ0=0;QD=36.30;SB=-160.62;TI=NM_033225;GI=CSMD1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:40:99:1485,111,0:59:99:1.000 chr8 2832139 rs667595 C G 4404.75 PASS DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7525;MQ=53;MQ0=0;QD=27.53;SB=-2739.33;TI=NM_033225;GI=CSMD1;FC=Synonymous_S2858S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,160:160:99:4405,313,0:53:99:1.000 chr8 2836180 . G C 3323.38 PASS BaseQRankSum=1.947;DP=217;Dels=0.00;FS=1.083;HRun=0;HaplotypeScore=8.1226;MQ=54;MQ0=0;MQRankSum=1.757;QD=15.32;ReadPosRankSum=0.188;SB=-2154.44;TI=NM_033225;GI=CSMD1;FC=Synonymous_T2840T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,133:217:99:3323,0,1977:54:99:0.619 chr8 2909992 rs6558702 G A 4153.02 PASS DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=30.31;SB=-1689.05;TI=NM_033225;GI=CSMD1;FC=Missense_T2551M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:4153,307,0:54:99:1.000 chr8 2910020 rs6558703 A G 5195.63 PASS DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=28.39;SB=-2853.09;TI=NM_033225;GI=CSMD1;FC=Synonymous_L2542L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,183:183:99:5196,379,0:53:99:1.000 chr8 3072107 rs73183587 G C 4102.92 PASS BaseQRankSum=1.742;DP=148;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=-0.259;QD=27.72;ReadPosRankSum=-1.034;SB=-2555.66;TI=NM_033225;GI=CSMD1;FC=Synonymous_G1593G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,145:148:99:4103,222,0:54:99:0.980 chr8 3076959 rs28455997 T C 2102.69 PASS DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=30.47;SB=-1228.88;TI=NM_033225;GI=CSMD1;FC=Missense_N1497S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:2136,157,0:52:99:1.000 chr8 3216809 . T C 592.48 PASS BaseQRankSum=-1.533;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=0.443;QD=10.22;ReadPosRankSum=-1.253;SB=-369.92;TI=NM_033225;GI=CSMD1;FC=Missense_I1057V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,28:58:99:622,0,605:54:99:0.483 chr8 3224561 rs4875703 T C 3996.27 PASS DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.6911;MQ=52;MQ0=0;QD=30.51;SB=-1426.72;TI=NM_033225;GI=CSMD1;FC=Synonymous_T1036T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3996,301,0:52:99:1.000 chr8 3226899 rs6984477 A T 1275.05 PASS DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=26.56;SB=-912.54;TI=NM_033225;GI=CSMD1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:93.31:1308,93,0:56:93:1.000 chr8 6272399 rs2305022 G T 2881.44 PASS DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=32.38;SB=-1212.39;TI=NM_001172575,NM_001172574,NM_024596;GI=MCPH1,MCPH1,MCPH1;FC=Synonymous_V76V,Synonymous_V76V,Synonymous_V76V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2914,217,0:56:99:1.000 chr8 6296550 rs2442513 G T 1169.96 PASS BaseQRankSum=-2.554;DP=104;Dels=0.00;FS=0.735;HRun=0;HaplotypeScore=5.4638;MQ=52;MQ0=0;MQRankSum=0.940;QD=11.25;ReadPosRankSum=-3.029;SB=-747.90;TI=NM_001172575,NM_001172574,NM_024596;GI=MCPH1,MCPH1,MCPH1;FC=Silent,Missense_R171S,Missense_R171S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,50:104:99:1200,0,1374:52:99:0.481 chr8 6302183 rs930557 G C 2809.13 PASS BaseQRankSum=0.929;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.6315;MQ=57;MQ0=0;MQRankSum=-0.164;QD=15.02;ReadPosRankSum=-0.664;SB=-1175.88;TI=NM_001172575,NM_001172574,NM_024596;GI=MCPH1,MCPH1,MCPH1;FC=Missense_D266H,Missense_D314H,Missense_D314H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,98:187:99:2839,0,2725:57:99:0.524 chr8 6302232 . A G 2413.99 PASS BaseQRankSum=2.518;DP=166;Dels=0.00;FS=1.957;HRun=0;HaplotypeScore=6.3944;MQ=57;MQ0=0;MQRankSum=-1.807;QD=14.54;ReadPosRankSum=0.732;SB=-1323.87;TI=NM_001172575,NM_001172574,NM_024596;GI=MCPH1,MCPH1,MCPH1;FC=Missense_Y282C,Missense_Y330C,Missense_Y330C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,81:166:99:2444,0,2452:57:99:0.491 chr8 6302418 rs2515569 A G 6080.48 PASS DP=190;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4428;MQ=58;MQ0=0;QD=32.00;SB=-3666.60;TI=NM_001172575,NM_001172574,NM_024596;GI=MCPH1,MCPH1,MCPH1;FC=Missense_D344G,Missense_D392G,Missense_D392G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,190:190:99:6080,451,0:58:99:1.000 chr8 6478986 rs2912010 C T 599.38 PASS BaseQRankSum=2.181;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=1.199;QD=13.32;ReadPosRankSum=-0.011;SB=-267.16;TI=NM_024596;GI=MCPH1;FC=Synonymous_S742S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,25:45:99:629,0,500:56:99:0.556 chr8 6479042 rs1057090 C T 933.78 PASS BaseQRankSum=1.334;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=52;MQ0=0;MQRankSum=0.627;QD=12.45;ReadPosRankSum=-1.473;SB=-589.87;TI=NM_024596;GI=MCPH1;FC=Missense_A761V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,43:75:99:964,0,782:52:99:0.573 chr8 6479178 rs2912016 C A 397.80 PASS BaseQRankSum=-1.157;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9996;MQ=59;MQ0=0;MQRankSum=0.807;QD=13.26;ReadPosRankSum=1.506;SB=-92.73;TI=NM_024596;GI=MCPH1;FC=Synonymous_A806A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,15:30:99:428,0,356:59:99:0.517 chr8 6500544 rs1057091 C T 1035.50 PASS BaseQRankSum=1.575;DP=134;Dels=0.00;FS=7.163;HRun=0;HaplotypeScore=6.6647;MQ=53;MQ0=0;MQRankSum=0.121;QD=7.73;ReadPosRankSum=1.874;SB=-410.26;TI=NM_024596;GI=MCPH1;FC=Missense_P828S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,44:134:99:1065,0,2120:53:99:0.328 chr8 8176221 rs13269488 C T 890.70 PASS BaseQRankSum=0.140;DP=80;Dels=0.00;FS=3.426;HRun=0;HaplotypeScore=5.5381;MQ=56;MQ0=0;MQRankSum=-0.853;QD=11.13;ReadPosRankSum=-0.178;SB=-291.06;TI=NM_001080826;GI=SGK223;FC=Missense_G1222S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,38:80:99:921,0,1103:56:99:0.475 chr8 8176554 rs12549973 C T 1939.82 PASS BaseQRankSum=-0.946;DP=185;Dels=0.00;FS=5.259;HRun=0;HaplotypeScore=4.5212;MQ=55;MQ0=0;MQRankSum=2.746;QD=10.49;ReadPosRankSum=0.684;SB=-1080.03;TI=NM_001080826;GI=SGK223;FC=Missense_A1111T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,86:185:99:1970,0,2162:55:99:0.465 chr8 8176825 rs6601691 A G 1115.50 PASS BaseQRankSum=1.027;DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.1418;MQ=55;MQ0=0;MQRankSum=0.641;QD=11.27;ReadPosRankSum=1.454;SB=-450.78;TI=NM_001080826;GI=SGK223;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,47:99:99:1145,0,1277:55:99:0.475 chr8 8234077 rs4840952 G C 2434.51 PASS BaseQRankSum=1.246;DP=203;Dels=0.00;FS=1.968;HRun=1;HaplotypeScore=22.5811;MQ=55;MQ0=0;MQRankSum=-0.351;QD=11.99;ReadPosRankSum=-1.848;SB=-712.69;TI=NM_001080826;GI=SGK223;FC=Synonymous_A614A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,91:203:99:2464,0,3110:55:99:0.450 chr8 8234192 rs4840953 G C 1199.93 PASS BaseQRankSum=-0.026;DP=75;Dels=0.00;FS=4.713;HRun=0;HaplotypeScore=3.6806;MQ=58;MQ0=0;MQRankSum=0.387;QD=16.00;ReadPosRankSum=0.705;SB=-530.23;TI=NM_001080826;GI=SGK223;FC=Missense_S576C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,38:75:99:1230,0,1126:58:99:0.507 chr8 8234218 rs41314930 C T 1192.96 PASS BaseQRankSum=1.125;DP=78;Dels=0.00;FS=3.130;HRun=0;HaplotypeScore=4.5320;MQ=57;MQ0=0;MQRankSum=0.845;QD=15.29;ReadPosRankSum=0.565;SB=-663.70;TI=NM_001080826;GI=SGK223;FC=Synonymous_P567P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,40:78:99:1223,0,1029:57:99:0.513 chr8 8234219 rs4840955 G A 1183.81 PASS BaseQRankSum=-0.220;DP=78;Dels=0.00;FS=3.105;HRun=0;HaplotypeScore=5.4261;MQ=57;MQ0=0;MQRankSum=0.310;QD=15.18;ReadPosRankSum=0.390;SB=-628.36;TI=NM_001080826;GI=SGK223;FC=Missense_P567L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,41:78:99:1214,0,1075:57:99:0.526 chr8 8234714 rs3896980 C T 2314.00 PASS BaseQRankSum=1.027;DP=168;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=8.4325;MQ=54;MQ0=0;MQRankSum=2.519;QD=13.77;ReadPosRankSum=-0.436;SB=-1509.20;TI=NM_001080826;GI=SGK223;FC=Missense_R402Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,94:168:99:2344,0,1871:54:99:0.560 chr8 8234868 . C CGCCGCT 6966.50 PASS BaseQRankSum=-1.615;DP=100;FS=0.000;HRun=0;HaplotypeScore=114.8907;MQ=55;MQ0=0;MQRankSum=1.226;QD=69.66;ReadPosRankSum=-0.487;SB=-3279.54;TI=NM_001080826;GI=SGK223;FC=2AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:17,80:100:99:6966,186,0:55:99:0.825 chr8 9414049 rs33945943 G A 2135.19 PASS BaseQRankSum=0.440;DP=169;Dels=0.00;FS=5.627;HRun=0;HaplotypeScore=5.4081;MQ=53;MQ0=0;MQRankSum=1.421;QD=12.63;ReadPosRankSum=1.977;SB=-1207.08;TI=NM_003747;GI=TNKS;FC=Synonymous_R200R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,88:169:99:2165,0,2046:53:99:0.524 chr8 9564437 rs7006985 A G 2110.83 PASS BaseQRankSum=1.288;DP=176;Dels=0.00;FS=2.655;HRun=0;HaplotypeScore=4.4704;MQ=53;MQ0=0;MQRankSum=3.318;QD=11.99;ReadPosRankSum=-0.330;SB=-1150.64;TI=NM_003747;GI=TNKS;FC=Synonymous_T462T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,85:176:99:2141,0,2251:53:99:0.486 chr8 9577940 rs6601360 T C 6840.83 PASS DP=261;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.5519;MQ=48;MQ0=0;QD=26.21;SB=-4379.12;TI=NM_003747;GI=TNKS;FC=Synonymous_G602G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,259:261:99:6841,485,0:48:99:1.000 chr8 10474042 rs4388421 T G 2844.62 PASS DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7880;MQ=55;MQ0=0;QD=27.09;SB=-1760.54;TI=NM_178857;GI=RP1L1;FC=Missense_H222P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:2878,208,0:55:99:1.000 chr8 11142389 rs34942523 C CG 3705.71 PASS DP=106;FS=0.000;HRun=5;HaplotypeScore=96.5468;MQ=60;MQ0=0;QD=34.96;SB=-1280.82;TI=NM_015458;GI=MTMR9;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,101:106:99:3706,316,0:60:99:0.962 chr8 11162496 rs2164272 A C 4915.18 PASS DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0141;MQ=54;MQ0=0;QD=28.41;SB=-2997.66;TI=NM_015458;GI=MTMR9;FC=Synonymous_L188L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,173:173:99:4915,361,0:54:99:1.000 chr8 11406593 rs3816668 T C 1032.61 PASS BaseQRankSum=-1.512;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=56;MQ0=0;MQRankSum=-0.529;QD=10.99;ReadPosRankSum=0.620;SB=-708.15;TI=NM_001715;GI=BLK;FC=Synonymous_S110S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,47:94:99:1063,0,1040:56:99:0.500 chr8 11414237 rs2306234 T C 1427.13 PASS BaseQRankSum=-1.124;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=55;MQ0=0;MQRankSum=0.857;QD=10.73;ReadPosRankSum=-1.612;SB=-842.73;TI=NM_001715;GI=BLK;FC=Synonymous_F281F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,60:133:99:1457,0,1730:55:99:0.451 chr8 11667179 rs8417 C T 4593.01 PASS BaseQRankSum=-1.355;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=-0.460;QD=31.03;ReadPosRankSum=-0.460;SB=-1482.63;TI=NM_004462;GI=FDFT1;FC=Synonymous_N67N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,146:148:99:4593,308,0:55:99:0.993 chr8 11683653 rs904011 T C 4738.13 PASS DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1466;MQ=54;MQ0=0;QD=29.99;SB=-2585.90;TI=NM_004462;GI=FDFT1;FC=Synonymous_L211L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,158:158:99:4738,346,0:54:99:1.000 chr8 11687938 rs1293313 G C 979.08 PASS DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;QD=27.97;SB=-482.00;TI=NM_004462;GI=FDFT1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:35:72.24:1012,72,0:50:72:1.000 chr8 11689119 rs9205 G C 6151.43 PASS DP=219;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=53;MQ0=0;QD=28.09;SB=-4129.82;TI=NM_004462;GI=FDFT1;FC=Synonymous_L324L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,219:219:99:6151,442,0:53:99:1.000 chr8 11705342 rs1736088 G C 1809.99 PASS BaseQRankSum=0.065;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=39;MQ0=0;MQRankSum=-2.234;QD=31.75;ReadPosRankSum=1.843;SB=-550.89;TI=NM_001908,NM_147783,NM_147780,NM_147781,NM_147782;GI=CTSB,CTSB,CTSB,CTSB,CTSB;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,55:57:99:1843,118,0:39:99:0.965 chr8 11706581 rs13332 T G 2358.22 PASS DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=52;MQ0=0;QD=27.11;SB=-1551.64;TI=NM_001908,NM_147783,NM_147780,NM_147781,NM_147782;GI=CTSB,CTSB,CTSB,CTSB,CTSB;FC=Synonymous_T140T,Synonymous_T140T,Synonymous_T140T,Synonymous_T140T,Synonymous_T140T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2391,169,0:52:99:1.000 chr8 11710888 rs12338 G C 2942.44 PASS DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=54;MQ0=0;QD=27.24;SB=-2135.14;TI=NM_001908,NM_147783,NM_147780,NM_147781,NM_147782;GI=CTSB,CTSB,CTSB,CTSB,CTSB;FC=Missense_L26V,Missense_L26V,Missense_L26V,Missense_L26V,Missense_L26V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:2975,211,0:54:99:1.000 chr8 15508200 rs1035972 T C 2336.31 PASS BaseQRankSum=1.487;DP=193;Dels=0.00;FS=1.848;HRun=0;HaplotypeScore=4.4430;MQ=55;MQ0=0;MQRankSum=2.132;QD=12.11;ReadPosRankSum=1.296;SB=-1311.45;TI=NM_006765,NM_178234;GI=TUSC3,TUSC3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,100:193:99:2366,0,2270:55:99:0.518 chr8 15978063 rs4338104 C T 2621.77 PASS BaseQRankSum=1.509;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=26.7916;MQ=47;MQ0=0;MQRankSum=1.099;QD=28.19;ReadPosRankSum=-0.354;SB=-1276.85;TI=NM_138716,NM_138715;GI=MSR1,MSR1;FC=Silent,Synonymous_R362R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,92:93:99:2655,192,0:47:99:0.989 chr8 16859398 rs10448135 C G 596.37 PASS DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=25.93;SB=-399.03;TI=NM_019851;GI=FGF20;FC=Synonymous_A48A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,23:23:45.15:629,45,0:57:45:1.000 chr8 17406183 rs737039 A G 2516.60 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;QD=30.32;SB=-1342.95;TI=NM_001008539,NM_003046,NM_001164771;GI=SLC7A2,SLC7A2,SLC7A2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2550,187,0:58:99:1.000 chr8 17419539 rs62622371 G A 3210.71 PASS BaseQRankSum=1.191;DP=289;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1200;MQ=51;MQ0=0;MQRankSum=1.038;QD=11.11;ReadPosRankSum=1.188;SB=-2213.13;TI=NM_001008539,NM_003046,NM_001164771;GI=SLC7A2,SLC7A2,SLC7A2;FC=Missense_A531T,Missense_A570T,Missense_A571T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:139,149:289:99:3241,0,3140:51:99:0.517 chr8 17503431 rs1043883 G C 1007.48 PASS BaseQRankSum=-0.037;DP=61;Dels=0.00;FS=2.741;HRun=0;HaplotypeScore=10.1187;MQ=56;MQ0=0;MQRankSum=-1.166;QD=16.52;ReadPosRankSum=-0.858;SB=-186.55;TI=NM_020749,NM_001001931,NM_001166393,NM_001001925,NM_001001924;GI=MTUS1,MTUS1,MTUS1,MTUS1,MTUS1;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,36:61:99:1037,0,658:56:99:0.590 chr8 17513414 rs12224 G A 2524.35 PASS BaseQRankSum=0.545;DP=192;Dels=0.00;FS=11.174;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=1.028;QD=13.15;ReadPosRankSum=-1.000;SB=-1597.56;TI=NM_020749,NM_001001931,NM_001166393,NM_001001925,NM_001001924;GI=MTUS1,MTUS1,MTUS1,MTUS1,MTUS1;FC=Synonymous_Y188Y,Synonymous_Y269Y,Synonymous_Y167Y,Synonymous_Y968Y,Synonymous_Y1022Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,100:192:99:2554,0,2555:55:99:0.521 chr8 17541999 rs2979792 T C 3221.92 PASS DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5047;MQ=53;MQ0=0;QD=30.40;SB=-1798.46;TI=NM_020749,NM_001001931,NM_001166393,NM_001001925,NM_001001924;GI=MTUS1,MTUS1,MTUS1,MTUS1,MTUS1;FC=Synonymous_T58T,Synonymous_T139T,Synonymous_T37T,Synonymous_T838T,Synonymous_T892T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:3255,238,0:53:99:1.000 chr8 17611886 rs2979788 G A 8376.82 PASS DP=270;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.03;SB=-4747.76;TI=NM_001001925,NM_001001924;GI=MTUS1,MTUS1;FC=Synonymous_P477P,Synonymous_P477P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,270:270:99:8377,617,0:56:99:1.000 chr8 17612456 rs11203910 C T 5267.51 PASS DP=170;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.4324;MQ=57;MQ0=0;QD=30.99;SB=-3280.10;TI=NM_001001925,NM_001001924;GI=MTUS1,MTUS1;FC=Synonymous_K287K,Synonymous_K287K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:170:99:5268,385,0:57:99:1.000 chr8 17612875 rs3739407 A G 7359.04 PASS DP=253;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6429;MQ=55;MQ0=0;QD=29.09;SB=-4238.55;TI=NM_001001925,NM_001001924;GI=MTUS1,MTUS1;FC=Missense_C148R,Missense_C148R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,253:253:99:7359,530,0:55:99:1.000 chr8 17796382 rs41364448;rs67012898 A G 5571.68 PASS BaseQRankSum=0.506;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3368;MQ=54;MQ0=0;MQRankSum=-0.820;QD=26.28;ReadPosRankSum=0.688;SB=-3547.11;TI=NM_006197;GI=PCM1;FC=Missense_N159S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,208:212:99:5572,363,0:54:99:0.995 chr8 17796383 . C T 5249.42 PASS BaseQRankSum=-0.779;DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2035;MQ=55;MQ0=0;MQRankSum=-0.181;QD=25.61;ReadPosRankSum=0.270;SB=-3343.41;TI=NM_006197;GI=PCM1;FC=Synonymous_N159N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,202:205:99:5249,306,0:55:99:0.985 chr8 17814915 rs208753 A G 2155.94 PASS DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=27.29;SB=-1217.58;TI=NM_006197;GI=PCM1;FC=Missense_M597V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2189,160,0:54:99:1.000 chr8 17819572 rs3780103 C T 1281.38 PASS DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=26.15;SB=-871.86;TI=NM_006197;GI=PCM1;FC=Synonymous_P784P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:93.30:1314,93,0:56:93:1.000 chr8 17820714 rs6991775 A T 1174.80 PASS BaseQRankSum=-2.269;DP=108;Dels=0.00;FS=2.986;HRun=1;HaplotypeScore=5.4428;MQ=55;MQ0=0;MQRankSum=3.505;QD=10.88;ReadPosRankSum=-1.130;SB=-258.07;TI=NM_006197;GI=PCM1;FC=Synonymous_L856L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,39:108:99:1205,0,1936:55:99:0.364 chr8 17827260 rs72589229 A AC 9158.19 PASS BaseQRankSum=0.175;DP=222;FS=0.000;HRun=1;HaplotypeScore=81.2611;MQ=59;MQ0=0;MQRankSum=1.144;QD=41.25;ReadPosRankSum=0.842;SB=-4498.44;TI=NM_006197;GI=PCM1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,216:222:99:9158,614,0:59:99:0.977 chr8 17918934 rs10103355 A G 4968.93 PASS DP=183;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2586;MQ=51;MQ0=0;QD=27.15;SB=-3282.52;TI=NM_177924,NM_004315,NM_001127505;GI=ASAH1,ASAH1,ASAH1;FC=Missense_V246A,Missense_V262A,Missense_V240A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,182:183:99:4969,355,0:51:99:1.000 chr8 18077007 rs10106882 G C 3638.05 PASS DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1471;MQ=55;MQ0=0;QD=28.87;SB=-1671.21;TI=NM_001160179,NM_001160175,NM_001160176,NM_001160171,NM_001160172,NM_000662,NM_001160170,NM_001160173;GI=NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1,NAT1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:3638,265,0:55:99:1.000 chr8 18257854 rs1801280 T C 1140.55 PASS BaseQRankSum=0.962;DP=110;Dels=0.00;FS=7.893;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.147;QD=10.37;ReadPosRankSum=0.631;SB=-410.58;TI=NM_000015;GI=NAT2;FC=Missense_I114T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,43:110:99:1171,0,2048:57:99:0.391 chr8 18257994 rs1799929 C T 1966.12 PASS BaseQRankSum=1.335;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6820;MQ=54;MQ0=0;MQRankSum=3.070;QD=10.80;ReadPosRankSum=0.266;SB=-1144.42;TI=NM_000015;GI=NAT2;FC=Synonymous_L161L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,75:182:99:1996,0,2886:54:99:0.412 chr8 18258316 rs1208 G A 1253.17 PASS BaseQRankSum=0.135;DP=121;Dels=0.00;FS=1.559;HRun=3;HaplotypeScore=4.6767;MQ=55;MQ0=0;MQRankSum=2.408;QD=10.36;ReadPosRankSum=1.582;SB=-506.90;TI=NM_000015;GI=NAT2;FC=Missense_R268K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,48:121:99:1283,0,1822:55:99:0.397 chr8 19315034 rs10888163 G T 470.33 SB BaseQRankSum=-0.700;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59;MQ0=0;MQRankSum=-1.954;QD=21.38;ReadPosRankSum=0.995;SB=-0.01;TI=NM_001130518,NM_018371,NR_024040;GI=CSGALNACT1,CSGALNACT1,CSGALNACT1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,16:22:99:500,0,177:59:99:0.727 chr8 19316086 rs12155539 G A 1051.91 PASS BaseQRankSum=-0.218;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1582;MQ=53;MQ0=0;MQRankSum=0.557;QD=10.52;ReadPosRankSum=0.280;SB=-597.48;TI=NM_001130518,NM_018371,NR_024040;GI=CSGALNACT1,CSGALNACT1,CSGALNACT1;FC=Synonymous_H234H,Synonymous_H234H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,46:100:99:1082,0,1371:53:99:0.460 chr8 19362768 rs7017776 C T 908.83 SB DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=37.87;SB=-0.01;TI=NM_001130518,NM_018371,NR_024040;GI=CSGALNACT1,CSGALNACT1,CSGALNACT1;FC=Missense_S193N,Missense_S193N,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:72.23:942,72,0:60:72:1.000 chr8 19363425 rs6984644 C T 1345.74 PASS BaseQRankSum=-1.172;DP=89;Dels=0.00;FS=1.845;HRun=0;HaplotypeScore=5.6791;MQ=53;MQ0=0;MQRankSum=-0.038;QD=15.12;ReadPosRankSum=-0.802;SB=-612.12;TI=NM_001130518,NM_018371,NR_024040;GI=CSGALNACT1,CSGALNACT1,CSGALNACT1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,54:89:99:1376,0,867:53:99:0.607 chr8 19540262 rs11204064 A G 521.37 PASS BaseQRankSum=0.070;DP=49;Dels=0.00;FS=16.911;HRun=1;HaplotypeScore=2.8661;MQ=57;MQ0=0;MQRankSum=-0.410;QD=10.64;ReadPosRankSum=0.870;SB=-361.93 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,24:49:99:551,0,795:57:99:0.490 chr8 19818436 rs316 C A 867.50 PASS BaseQRankSum=0.851;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=52;MQ0=0;MQRankSum=0.301;QD=11.27;ReadPosRankSum=0.667;SB=-631.79;TI=NM_000237;GI=LPL;FC=Synonymous_T388T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,39:77:99:897,0,941:52:99:0.506 chr8 19822830 rs4922115 G A 1553.80 PASS BaseQRankSum=0.546;DP=131;Dels=0.00;FS=3.211;HRun=2;HaplotypeScore=5.5569;MQ=55;MQ0=0;MQRankSum=1.305;QD=11.86;ReadPosRankSum=0.186;SB=-984.53;TI=NM_000237;GI=LPL;FC=Synonymous_A479A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,67:131:99:1584,0,1607:55:99:0.511 chr8 20036713 rs1390938 A G 2599.91 PASS BaseQRankSum=0.906;DP=178;Dels=0.00;FS=1.955;HRun=0;HaplotypeScore=9.9640;MQ=56;MQ0=0;MQRankSum=2.261;QD=14.61;ReadPosRankSum=-1.145;SB=-1100.18;TI=NM_001135691,NM_003053,NM_001142324,NM_001142325;GI=SLC18A1,SLC18A1,SLC18A1,SLC18A1;FC=Missense_I136T,Missense_I136T,Missense_I136T,Missense_I136T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,97:178:99:2630,0,1958:56:99:0.545 chr8 20036827 rs2270637 C G 2235.20 PASS BaseQRankSum=0.702;DP=197;Dels=0.00;FS=3.257;HRun=0;HaplotypeScore=8.2993;MQ=55;MQ0=0;MQRankSum=0.647;QD=11.35;ReadPosRankSum=0.396;SB=-1283.40;TI=NM_001135691,NM_003053,NM_001142324,NM_001142325;GI=SLC18A1,SLC18A1,SLC18A1,SLC18A1;FC=Missense_S98T,Missense_S98T,Missense_S98T,Missense_S98T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,83:197:99:2265,0,3056:55:99:0.421 chr8 21981154 . T C 90.16 SB;LowDP BaseQRankSum=-2.143;DP=15;Dels=0.00;FS=15.911;HRun=4;HaplotypeScore=12.8655;MQ=43;MQ0=0;MQRankSum=-1.776;QD=6.01;ReadPosRankSum=0.674;SB=-0.01;TI=NM_005144,NM_018411;GI=HR,HR;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,5:15:99:120,0,332:43:90:0.333 chr8 21981159 . T C 21.65 SB;LowDP BaseQRankSum=-2.607;DP=16;Dels=0.00;FS=12.601;HRun=2;HaplotypeScore=13.7339;MQ=44;MQ0=0;MQRankSum=-2.243;QD=1.35;ReadPosRankSum=0.061;SB=-0.01;TI=NM_005144,NM_018411;GI=HR,HR;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,4:16:51.61:52,0,348:44:22:0.250 chr8 22021037 rs4715 C A 1750.19 PASS BaseQRankSum=0.844;DP=155;Dels=0.00;FS=4.787;HRun=1;HaplotypeScore=11.8835;MQ=51;MQ0=1;MQRankSum=-1.188;QD=11.29;ReadPosRankSum=-1.072;SB=-1052.84;TI=NM_003018,NM_001172410,NM_001172357;GI=SFTPC,SFTPC,SFTPC;FC=Missense_T138N,Missense_T138N,Missense_T138N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,75:155:99:1780,0,1947:51:99:0.484 chr8 22021517 rs1124 G A 3457.30 PASS BaseQRankSum=0.816;DP=323;Dels=0.00;FS=0.855;HRun=1;HaplotypeScore=12.8752;MQ=54;MQ0=0;MQRankSum=1.114;QD=10.70;ReadPosRankSum=-0.736;SB=-2214.01;TI=NM_003018,NM_001172410,NM_001172357;GI=SFTPC,SFTPC,SFTPC;FC=Missense_S186N,Missense_S186N,Missense_S180N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:171,152:323:99:3457,0,4146:54:99:0.471 chr8 22054197 rs2229777 T C 2452.21 PASS BaseQRankSum=2.010;DP=190;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.4312;MQ=54;MQ0=0;MQRankSum=0.244;QD=12.91;ReadPosRankSum=-0.193;SB=-1162.96;TI=NM_001199,NR_033404,NR_033403,NM_006129;GI=BMP1,BMP1,BMP1,BMP1;FC=Synonymous_A590A,Silent,Silent,Synonymous_A590A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,103:190:99:2482,0,2109:54:99:0.542 chr8 22880162 rs1047275 G C 242.73 LowDP BaseQRankSum=1.200;DP=18;Dels=0.00;FS=2.077;HRun=0;HaplotypeScore=1.7333;MQ=57;MQ0=0;MQRankSum=0.666;QD=13.48;ReadPosRankSum=-1.377;SB=-106.26;TI=NR_027140,NM_147187,NM_003842;GI=TNFRSF10B,TNFRSF10B,TNFRSF10B;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,8:18:99:273,0,297:57:99:0.444 chr8 22886020 rs13265018 A G 4439.14 PASS DP=155;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=28.64;SB=-2665.73;TI=NR_027140,NM_147187,NM_003842;GI=TNFRSF10B,TNFRSF10B,TNFRSF10B;FC=Silent,Silent,Missense_V191A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4439,322,0:55:99:1.000 chr8 22926498 rs11135695 G A 3764.34 PASS DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.8477;MQ=53;MQ0=0;QD=27.88;SB=-2208.05;TI=NR_027140,NM_147187,NM_003842;GI=TNFRSF10B,TNFRSF10B,TNFRSF10B;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:135:99:3764,274,0:53:99:1.000 chr8 23049292 rs2230229 C T 859.53 PASS BaseQRankSum=0.050;DP=84;Dels=0.00;FS=2.977;HRun=2;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=-0.574;QD=10.23;ReadPosRankSum=-1.758;SB=-502.72;TI=NM_003844;GI=TNFRSF10A;FC=Missense_R441K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,36:84:99:890,0,1267:54:99:0.429 chr8 23058220 rs20576 T G 1991.74 PASS BaseQRankSum=-0.303;DP=149;Dels=0.00;FS=0.621;HRun=0;HaplotypeScore=7.3836;MQ=51;MQ0=0;MQRankSum=2.830;QD=13.37;ReadPosRankSum=1.784;SB=-1267.42;TI=NM_003844;GI=TNFRSF10A;FC=Missense_E228A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,82:149:99:2022,0,1601:51:99:0.550 chr8 23059324 rs20575 C G 1263.67 PASS BaseQRankSum=-0.314;DP=103;Dels=0.00;FS=1.577;HRun=0;HaplotypeScore=4.7035;MQ=52;MQ0=0;MQRankSum=0.638;QD=12.27;ReadPosRankSum=-0.691;SB=-820.92;TI=NM_003844;GI=TNFRSF10A;FC=Missense_R209T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,55:103:99:1294,0,1152:52:99:0.534 chr8 23060256 rs6557634 T C 1462.73 PASS BaseQRankSum=0.196;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9908;MQ=54;MQ0=0;MQRankSum=0.384;QD=12.61;ReadPosRankSum=1.422;SB=-938.92;TI=NM_003844;GI=TNFRSF10A;FC=Missense_H141R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,58:116:99:1493,0,1419:54:99:0.500 chr8 23167353 rs1063582 T G 2214.29 PASS BaseQRankSum=3.080;DP=158;Dels=0.00;FS=0.590;HRun=1;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=1.883;QD=14.01;ReadPosRankSum=-1.594;SB=-1327.54;TI=NM_002318;GI=LOXL2;FC=Missense_M570L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,85:158:99:2244,0,1802:52:99:0.538 chr8 23186007 rs1051146 T C 2571.00 PASS BaseQRankSum=0.534;DP=236;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.6605;MQ=54;MQ0=0;MQRankSum=2.050;QD=10.89;ReadPosRankSum=0.099;SB=-1719.94;TI=NM_002318;GI=LOXL2;FC=Synonymous_E346E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,117:236:99:2601,0,2791:54:99:0.496 chr8 23190941 rs1010156 T C 4607.38 PASS DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=56;MQ0=0;QD=31.56;SB=-1531.28;TI=NM_002318;GI=LOXL2;FC=Synonymous_S313S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,145:146:99:4607,340,0:56:99:1.000 chr8 24339679 rs13255694 G A 1715.32 PASS BaseQRankSum=-0.463;DP=158;Dels=0.00;FS=1.275;HRun=0;HaplotypeScore=2.8937;MQ=56;MQ0=0;MQRankSum=-0.749;QD=10.86;ReadPosRankSum=1.269;SB=-1067.20;TI=NM_003817;GI=ADAM7;FC=Missense_V244M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,72:158:99:1745,0,2085:56:99:0.456 chr8 24350715 rs12547971 G A 1642.14 PASS BaseQRankSum=0.823;DP=140;Dels=0.00;FS=0.636;HRun=0;HaplotypeScore=9.0026;MQ=55;MQ0=0;MQRankSum=0.953;QD=11.73;ReadPosRankSum=-1.549;SB=-1088.65;TI=NM_003817;GI=ADAM7;FC=Synonymous_A605A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,72:140:99:1672,0,1698:55:99:0.514 chr8 24356818 rs13259668 A C 1055.63 PASS BaseQRankSum=0.884;DP=113;Dels=0.00;FS=2.405;HRun=1;HaplotypeScore=3.6756;MQ=55;MQ0=0;MQRankSum=-0.377;QD=9.34;ReadPosRankSum=1.823;SB=-845.87;TI=NM_003817;GI=ADAM7;FC=Missense_N638H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,52:113:99:1086,0,1417:55:99:0.460 chr8 24359068 rs13277171 G A 769.02 PASS BaseQRankSum=2.110;DP=71;Dels=0.00;FS=6.440;HRun=0;HaplotypeScore=4.5463;MQ=55;MQ0=0;MQRankSum=0.696;QD=10.83;ReadPosRankSum=0.224;SB=-590.24;TI=NM_003817;GI=ADAM7;FC=Synonymous_L729L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,35:71:99:799,0,852:55:99:0.493 chr8 24774683 rs196864 C A 4337.12 PASS DP=161;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=51;MQ0=0;QD=26.94;SB=-2400.92;TI=NM_005382,NM_001105541;GI=NEFM,NEFM;FC=Missense_P439T,Missense_P63T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,161:161:99:4337,307,0:51:99:1.000 chr8 24811064 rs11340767 AG A 3089.30 PASS DP=97;FS=0.000;HRun=7;HaplotypeScore=73.9906;MQ=57;MQ0=0;QD=31.85;SB=-1479.58;TI=NM_006158;GI=NEFL;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:8,89:97:99:3131,268,0:57:99:0.918 chr8 25280800 rs6185 C G 4018.49 PASS DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=55;MQ0=0;QD=30.91;SB=-1989.03;TI=NM_001083111,NM_000825;GI=GNRH1,GNRH1;FC=Missense_W16S,Missense_W16S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:4018,289,0:55:99:1.000 chr8 26481771 rs327222 T C 6525.63 PASS BaseQRankSum=-0.268;DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=52;MQ0=0;MQRankSum=0.793;QD=26.85;ReadPosRankSum=1.439;SB=-4369.18;TI=NM_001197293,NM_001386;GI=DPYSL2,DPYSL2;FC=Synonymous_S247S,Synonymous_S142S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,241:243:99:6526,425,0:52:99:0.992 chr8 26510792 rs708621 T C 5624.56 PASS DP=201;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6548;MQ=53;MQ0=0;QD=27.98;SB=-3569.98;TI=NM_001197293,NM_001386;GI=DPYSL2,DPYSL2;FC=Synonymous_P607P,Synonymous_P502P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,201:201:99:5625,400,0:53:99:1.000 chr8 26606264 rs61759695 G A 1184.29 PASS BaseQRankSum=-0.415;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=95.7394;MQ=46;MQ0=0;MQRankSum=-0.734;QD=14.27;ReadPosRankSum=-0.306;SB=-297.97;TI=NM_033303;GI=ADRA1A;FC=Missense_T424M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,44:83:99:1214,0,934:46:99:0.530 chr8 26606267 . TAA T 462.64 R8 BaseQRankSum=1.709;DP=84;FS=1.055;HRun=20;HaplotypeScore=486.7654;MQ=47;MQ0=0;MQRankSum=-2.156;QD=5.51;ReadPosRankSum=-0.137;SB=-224.90;TI=NM_033303;GI=ADRA1A;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,12:84:99:502,0,408:47:99:0.235 chr8 26627672 rs2229126 T A 424.42 PASS BaseQRankSum=-0.485;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-1.231;QD=20.21;ReadPosRankSum=0.037;SB=-40.01;TI=NM_033303,NM_033302,NM_033304,NM_000680;GI=ADRA1A,ADRA1A,ADRA1A,ADRA1A;FC=Silent,Silent,Silent,Missense_E465D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,14:21:99:454,0,224:56:99:0.667 chr8 26628028 rs1048101 A G 8483.54 PASS DP=294;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.5678;MQ=51;MQ0=0;QD=28.86;SB=-5262.34;TI=NM_033303,NM_033302,NM_033304,NM_000680;GI=ADRA1A,ADRA1A,ADRA1A,ADRA1A;FC=Missense_C347R,Missense_C347R,Missense_C347R,Missense_C347R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,294:294:99:8484,611,0:51:99:1.000 chr8 27324822 rs891398 T C 1506.47 PASS BaseQRankSum=1.849;DP=139;Dels=0.00;FS=0.638;HRun=0;HaplotypeScore=2.8661;MQ=53;MQ0=0;MQRankSum=-0.678;QD=10.84;ReadPosRankSum=1.182;SB=-1045.56;TI=NM_000742;GI=CHRNA2;FC=Missense_T125A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,67:139:99:1536,0,1562:53:99:0.489 chr8 27454682 rs9331950 G A 4466.74 PASS BaseQRankSum=0.787;DP=321;Dels=0.00;FS=4.358;HRun=2;HaplotypeScore=7.0979;MQ=57;MQ0=0;MQRankSum=-0.037;QD=13.92;ReadPosRankSum=1.298;SB=-2335.82;TI=NM_203339,NM_001171138,NM_001831;GI=CLU,CLU,CLU;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:157,164:321:99:4467,0,4095:57:99:0.511 chr8 27462481 rs7982 A G 1179.66 PASS DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=56;MQ0=0;QD=32.77;SB=-358.19;TI=NM_203339,NM_001171138,NM_001831;GI=CLU,CLU,CLU;FC=Synonymous_H263H,Synonymous_H274H,Synonymous_H315H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,36:36:90.29:1213,90,0:56:90:1.000 chr8 27468862 rs9331888 C G 2302.37 PASS BaseQRankSum=2.291;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.0792;MQ=53;MQ0=0;MQRankSum=3.455;QD=12.31;ReadPosRankSum=0.245;SB=-1179.46;TI=NM_203339,NM_001171138,NM_001831;GI=CLU,CLU,CLU;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,91:187:99:2332,0,2194:53:99:0.489 chr8 28384712 rs2241802 A G 1281.82 PASS BaseQRankSum=2.868;DP=126;Dels=0.00;FS=1.459;HRun=1;HaplotypeScore=2.7855;MQ=55;MQ0=0;MQRankSum=-0.099;QD=10.17;ReadPosRankSum=2.893;SB=-708.04;TI=NM_017412,NM_145866;GI=FZD3,FZD3;FC=Synonymous_L145L,Synonymous_L145L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,51:126:99:1312,0,1935:55:99:0.405 chr8 30554006 rs8190996 G A 491.55 PASS BaseQRankSum=1.898;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7333;MQ=54;MQ0=0;MQRankSum=-0.730;QD=12.94;ReadPosRankSum=-1.168;SB=-133.05;TI=NM_001195102,NM_001195104,NM_000637,NM_001195103;GI=GSR,GSR,GSR,GSR;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,19:38:99:522,0,552:54:99:0.500 chr8 30567423 . TA T 60.56 R8 BaseQRankSum=-0.250;DP=28;FS=6.402;HRun=18;HaplotypeScore=135.9817;MQ=51;MQ0=0;MQRankSum=-0.083;QD=2.16;ReadPosRankSum=-0.416;SB=-14.10;TI=NM_001195102,NM_001195104,NM_000637,NM_001195103;GI=GSR,GSR,GSR,GSR;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,6:28:99:100,0,162:51:61:0.300 chr8 30924557 rs1800389 C T 1063.73 PASS BaseQRankSum=0.806;DP=92;Dels=0.00;FS=1.695;HRun=0;HaplotypeScore=2.8674;MQ=56;MQ0=0;MQRankSum=1.886;QD=11.56;ReadPosRankSum=1.997;SB=-734.34;TI=NM_000553;GI=WRN;FC=Synonymous_C171C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,47:92:99:1094,0,1080:56:99:0.516 chr8 30999122 rs3024239 C T 3104.56 PASS DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=29.57;SB=-1973.56;TI=NM_000553;GI=WRN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:3138,229,0:52:99:1.000 chr8 31024638 rs1801196 C T 3493.89 PASS BaseQRankSum=1.145;DP=293;Dels=0.00;FS=1.406;HRun=0;HaplotypeScore=4.6815;MQ=54;MQ0=0;MQRankSum=4.116;QD=11.92;ReadPosRankSum=-1.957;SB=-1898.86;TI=NM_000553;GI=WRN;FC=Synonymous_S1361S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:160,132:293:99:3494,0,4160:54:99:0.452 chr8 31024654 rs1346044 T C 4095.82 PASS BaseQRankSum=1.088;DP=311;Dels=0.00;FS=0.873;HRun=0;HaplotypeScore=5.6816;MQ=54;MQ0=0;MQRankSum=-1.558;QD=13.17;ReadPosRankSum=0.691;SB=-2385.62;TI=NM_000553;GI=WRN;FC=Missense_C1367R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:148,162:311:99:4096,0,3891:54:99:0.523 chr8 32453358 rs3924999 G A 1088.29 PASS BaseQRankSum=0.155;DP=96;Dels=0.00;FS=1.663;HRun=1;HaplotypeScore=2.8936;MQ=56;MQ0=0;MQRankSum=2.999;QD=11.34;ReadPosRankSum=1.466;SB=-619.68;TI=NM_013962,NM_001160002,NM_001160007,NM_004495,NM_001160005,NM_013958,NM_001160008,NM_013956,NM_013960,NM_013964,NM_013957,NM_001160004,NM_001159999,NM_001159995,NM_001160001;GI=NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1,NRG1;FC=Missense_R253Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q,Synonymous_P5P,Synonymous_P5P,Synonymous_P5P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,43:96:99:1118,0,1320:56:99:0.448 chr8 33369563 . C A 1953.59 PASS BaseQRankSum=3.017;DP=175;Dels=0.00;FS=2.753;HRun=0;HaplotypeScore=1.7608;MQ=53;MQ0=0;MQRankSum=-0.127;QD=11.16;ReadPosRankSum=-2.029;SB=-1158.54;TI=NM_025115,NM_001102401;GI=C8orf41,C8orf41;FC=Missense_G190V,Missense_G190V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,85:175:99:1984,0,2185:53:99:0.486 chr8 33369944 rs2304748 T C 2857.01 PASS BaseQRankSum=0.924;DP=240;Dels=0.00;FS=0.489;HRun=1;HaplotypeScore=12.7502;MQ=54;MQ0=0;MQRankSum=-0.200;QD=11.90;ReadPosRankSum=-3.066;SB=-1417.20;TI=NM_025115,NM_001102401;GI=C8orf41,C8orf41;FC=Missense_E63G,Missense_E63G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:128,111:240:99:2887,0,3119:54:99:0.464 chr8 33369994 rs3098657 A G 2398.09 PASS BaseQRankSum=2.557;DP=211;Dels=0.00;FS=1.097;HRun=0;HaplotypeScore=8.0599;MQ=54;MQ0=0;MQRankSum=1.013;QD=11.37;ReadPosRankSum=3.198;SB=-1131.83;TI=NM_025115,NM_001102401;GI=C8orf41,C8orf41;FC=Synonymous_N46N,Synonymous_N46N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,90:211:99:2428,0,3075:54:99:0.427 chr8 38005835 rs2229620 T C 1269.29 PASS DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.52;SB=-793.82;TI=NM_000349;GI=STAR;FC=Synonymous_L63L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,43:43:96.31:1302,96,0:56:96:1.000 chr8 38854660 . C A 749.68 PASS BaseQRankSum=0.496;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9660;MQ=53;MQ0=0;MQRankSum=2.655;QD=11.19;ReadPosRankSum=-0.421;SB=-382.96;TI=NR_027638,NR_027639,NR_027878,NM_003816;GI=ADAM9,ADAM9,ADAM9,ADAM9;FC=Silent,Silent,Silent,Synonymous_V26V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,32:67:99:780,0,899:53:99:0.478 chr8 38961550 rs4733973 G T 5161.68 PASS DP=151;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=6.3643;MQ=58;MQ0=0;QD=34.18;SB=-2680.48;TI=NR_027638,NR_027639,NR_027878,NM_003816;GI=ADAM9,ADAM9,ADAM9,ADAM9;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,151:151:99:5162,382,0:58:99:1.000 chr8 41519462 rs515071 A G 1590.32 PASS DP=53;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=30.01;SB=-680.85;TI=NM_001142445,NM_020478,NM_020480,NM_000037,NM_020475,NM_020476,NM_020477,NM_001142446;GI=ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1,ANK1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1623,117,0:58:99:1.000 chr8 41553928 rs504574 C G 628.27 PASS BaseQRankSum=2.282;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6544;MQ=55;MQ0=0;MQRankSum=-0.300;QD=9.52;ReadPosRankSum=0.639;SB=-278.99;TI=NM_000037,NM_020475,NM_020476,NM_020477,NM_001142446;GI=ANK1,ANK1,ANK1,ANK1,ANK1;FC=Synonymous_L971L,Synonymous_L971L,Synonymous_L971L,Synonymous_L971L,Synonymous_L1012L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,27:66:99:658,0,930:55:99:0.409 chr8 41566438 rs2304877 C T 2689.21 PASS BaseQRankSum=0.230;DP=236;Dels=0.00;FS=1.594;HRun=0;HaplotypeScore=4.5405;MQ=54;MQ0=0;MQRankSum=1.414;QD=11.39;ReadPosRankSum=0.535;SB=-1655.80;TI=NM_000037,NM_020475,NM_020476,NM_020477,NM_001142446;GI=ANK1,ANK1,ANK1,ANK1,ANK1;FC=Missense_R619H,Missense_R619H,Missense_R619H,Missense_R619H,Missense_R652H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,106:236:99:2719,0,3205:54:99:0.451 chr8 41571692 rs61753679 G T 1438.96 PASS BaseQRankSum=1.475;DP=103;Dels=0.00;FS=3.905;HRun=0;HaplotypeScore=2.8638;MQ=59;MQ0=0;MQRankSum=0.742;QD=13.97;ReadPosRankSum=0.346;SB=-456.41;TI=NM_000037,NM_020475,NM_020476,NM_020477,NM_001142446;GI=ANK1,ANK1,ANK1,ANK1,ANK1;FC=Synonymous_S594S,Synonymous_S594S,Synonymous_S594S,Synonymous_S594S,Synonymous_S627S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,50:103:99:1469,0,1598:59:99:0.485 chr8 41573182 rs61758865 G A 463.76 PASS BaseQRankSum=-0.345;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7878;MQ=55;MQ0=0;MQRankSum=1.354;QD=17.18;ReadPosRankSum=0.027;SB=-131.86;TI=NM_000037,NM_020475,NM_020476,NM_020477,NM_001142446;GI=ANK1,ANK1,ANK1,ANK1,ANK1;FC=Synonymous_A530A,Synonymous_A530A,Synonymous_A530A,Synonymous_A530A,Synonymous_A563A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,19:27:99:494,0,184:55:99:0.704 chr8 41580636 rs17661203 T C 960.64 PASS BaseQRankSum=1.382;DP=73;Dels=0.00;FS=3.100;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=0.479;QD=13.16;ReadPosRankSum=1.698;SB=-591.83;TI=NM_000037,NM_020475,NM_020476,NM_020477,NM_001142446;GI=ANK1,ANK1,ANK1,ANK1,ANK1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,38:73:99:991,0,848:56:99:0.528 chr8 41583441 rs6982971 T C 872.52 PASS BaseQRankSum=1.525;DP=67;Dels=0.00;FS=0.961;HRun=1;HaplotypeScore=1.8899;MQ=55;MQ0=0;MQRankSum=-0.709;QD=13.02;ReadPosRankSum=-0.471;SB=-478.42;TI=NM_000037,NM_020475,NM_020476,NM_020477,NM_001142446;GI=ANK1,ANK1,ANK1,ANK1,ANK1;FC=Synonymous_V150V,Synonymous_V150V,Synonymous_V150V,Synonymous_V150V,Synonymous_V183V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,35:67:99:903,0,770:55:99:0.522 chr8 42044954 rs1058720 G A 7609.27 PASS BaseQRankSum=-1.285;DP=271;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6815;MQ=54;MQ0=0;MQRankSum=-0.352;QD=28.08;ReadPosRankSum=0.185;SB=-5130.07;TI=NM_033011,NM_000930;GI=PLAT,PLAT;FC=Synonymous_D121D,Synonymous_D167D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,270:271:99:7609,513,0:54:99:0.996 chr8 42710363 . G T 31.07 LowVariantFreq;SB BaseQRankSum=-4.175;DP=108;Dels=0.00;FS=25.704;HRun=5;HaplotypeScore=102.5333;MQ=44;MQ0=0;MQRankSum=-3.491;QD=0.29;ReadPosRankSum=1.331;SB=-0.01;TI=NM_001160224,NM_001160223,NM_001160225,NR_027668,NM_030954,NR_027669;GI=RNF170,RNF170,RNF170,RNF170,RNF170,RNF170;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,18:108:61.06:61,0,2236:44:31:0.167 chr8 42710372 . CT C 242.14 R8 BaseQRankSum=-0.045;DP=85;FS=7.814;HRun=18;HaplotypeScore=650.0927;MQ=42;MQ0=0;MQRankSum=1.331;QD=2.85;ReadPosRankSum=0.023;SB=-73.22;TI=NM_001160224,NM_001160223,NM_001160225,NR_027668,NM_030954,NR_027669;GI=RNF170,RNF170,RNF170,RNF170,RNF170,RNF170;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,15:85:99:281,0,493:42:99:0.214 chr8 43054553 rs1126058 T C 3783.02 PASS DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=28.02;SB=-2385.89;TI=NM_152419;GI=HGSNAT;FC=Synonymous_Y583Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,135:135:99:3783,268,0:52:99:1.000 chr8 48805816 rs11411516 A AG 4862.86 PASS DP=119;FS=0.000;HRun=1;HaplotypeScore=75.4044;MQ=60;MQ0=0;QD=40.86;SB=-2067.76;TI=NM_006904,NM_001081640;GI=PRKDC,PRKDC;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,114:119:99:4863,346,0:60:99:0.991 chr8 48841708 rs8178046 G A 844.27 PASS BaseQRankSum=1.612;DP=92;Dels=0.00;FS=1.746;HRun=1;HaplotypeScore=0.9973;MQ=49;MQ0=0;MQRankSum=-1.100;QD=9.18;ReadPosRankSum=0.812;SB=-554.63;TI=NM_006904,NM_001081640;GI=PRKDC,PRKDC;FC=Missense_P695S,Missense_P695S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,36:92:99:874,0,1366:49:99:0.391 chr8 48846519 rs1231202 T C 1068.50 PASS DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=28.12;SB=-632.18;TI=NM_006904,NM_001081640;GI=PRKDC,PRKDC;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,38:38:78.26:1102,78,0:52:78:1.000 chr8 48885436 rs762679 T A 5239.41 PASS DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=27.15;SB=-3560.77;TI=NM_182746,NM_005914;GI=MCM4,MCM4;FC=Missense_L650M,Missense_L650M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,193:193:99:5239,373,0:54:99:1.000 chr8 53537316 rs1129660 A G 1201.85 PASS BaseQRankSum=-0.955;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6358;MQ=54;MQ0=0;MQRankSum=-0.803;QD=14.66;ReadPosRankSum=0.984;SB=-744.76;TI=NM_001083617,NM_014781;GI=RB1CC1,RB1CC1;FC=Synonymous_L1553L,Synonymous_L1556L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,50:82:99:1232,0,866:54:99:0.610 chr8 53543090 . T TA 42.62 R8 BaseQRankSum=1.995;DP=55;FS=0.000;HRun=15;HaplotypeScore=131.0577;MQ=51;MQ0=0;MQRankSum=1.850;QD=0.77;ReadPosRankSum=0.081;SB=-38.74;TI=NM_001083617,NM_014781;GI=RB1CC1,RB1CC1;FC=Splicing,Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,11:55:81.65:82,0,655:51:43:0.250 chr8 53555069 rs2305427 A G 1699.86 PASS BaseQRankSum=-1.390;DP=103;Dels=0.00;FS=0.761;HRun=0;HaplotypeScore=4.6714;MQ=57;MQ0=0;MQRankSum=0.857;QD=16.50;ReadPosRankSum=0.817;SB=-777.26;TI=NM_001083617,NM_014781;GI=RB1CC1,RB1CC1;FC=Synonymous_R1393R,Synonymous_R1393R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,59:103:99:1730,0,1256:57:99:0.573 chr8 53586706 rs17337252 A G 4647.63 PASS DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6153;MQ=57;MQ0=0;QD=32.50;SB=-2238.56;TI=NM_001083617,NM_014781;GI=RB1CC1,RB1CC1;FC=Missense_M234T,Missense_M234T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:143:99:4648,340,0:57:99:1.000 chr8 54142157 rs702764 T C 42.27 SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.736;QD=14.09;ReadPosRankSum=-0.736;SB=-0.01;TI=NM_000912;GI=OPRK1;FC=Synonymous_A281A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,2:3:30.98:72,0,31:60:31:0.667 chr8 54163582 . G A 3.90 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.736;QD=1.30;ReadPosRankSum=-0.736;SB=-0.01;TI=NM_000912;GI=OPRK1;FC=Nonsense_Q6X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:31.62:32,0,65:52:4:0.333 chr8 55539395 rs2293869 A T 3689.98 PASS BaseQRankSum=2.788;DP=289;Dels=0.00;FS=5.478;HRun=1;HaplotypeScore=10.1495;MQ=57;MQ0=0;MQRankSum=1.649;QD=12.77;ReadPosRankSum=0.266;SB=-1815.97;TI=NM_006269;GI=RP1;FC=Missense_N985Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:151,136:289:99:3690,0,3785:57:99:0.474 chr8 55542540 rs61739567 G A 2532.40 PASS BaseQRankSum=2.676;DP=147;Dels=0.00;FS=3.131;HRun=0;HaplotypeScore=10.1375;MQ=57;MQ0=0;MQRankSum=-0.152;QD=17.23;ReadPosRankSum=-3.668;SB=-1487.77;TI=NM_006269;GI=RP1;FC=Missense_C2033Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,95:147:99:2562,0,1390:57:99:0.646 chr8 56866452 rs2227980 G A 1554.51 PASS BaseQRankSum=-0.558;DP=145;Dels=0.00;FS=1.340;HRun=2;HaplotypeScore=4.7210;MQ=48;MQ0=0;MQRankSum=-1.566;QD=10.72;ReadPosRankSum=-0.201;SB=-890.84;TI=NM_002350,NM_001111097;GI=LYN,LYN;FC=Synonymous_K233K,Synonymous_K212K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,66:145:99:1585,0,1680:48:99:0.455 chr8 57353826 rs3839874 AG A 2165.93 PASS BaseQRankSum=-0.243;DP=117;FS=2.718;HRun=1;HaplotypeScore=53.5818;MQ=56;MQ0=0;MQRankSum=0.673;QD=18.51;ReadPosRankSum=-0.041;SB=-647.71;TI=NM_006211,NM_001135690;GI=PENK,PENK;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,58:117:99:2205,0,2329:56:99:0.496 chr8 61178574 rs7464181 T C 2442.67 PASS BaseQRankSum=1.519;DP=195;Dels=0.00;FS=6.071;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=2.866;QD=12.53;ReadPosRankSum=-0.653;SB=-1608.66;TI=NM_004056;GI=CA8;FC=Synonymous_E109E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,98:195:99:2473,0,2403:56:99:0.503 chr8 63976754 rs4501570 A G 4300.76 PASS DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7855;MQ=56;MQ0=0;QD=34.41;SB=-1020.67;TI=NM_000370;GI=TTPA;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:4301,319,0:56:99:1.000 chr8 63978658 rs5891887 TA T 2755.48 PASS DP=85;FS=0.000;HRun=8;HaplotypeScore=19.1917;MQ=51;MQ0=0;QD=32.42;SB=-1179.67;TI=NM_000370;GI=TTPA;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,83:85:99:2798,250,0:51:99:0.976 chr8 72111599 rs10103397 A G 1295.73 PASS BaseQRankSum=1.099;DP=131;Dels=0.00;FS=4.271;HRun=0;HaplotypeScore=7.2650;MQ=52;MQ0=0;MQRankSum=1.029;QD=9.89;ReadPosRankSum=0.775;SB=-938.27;TI=NM_172058,NM_172059,NM_172060,NM_000503;GI=EYA1,EYA1,EYA1,EYA1;FC=Synonymous_H585H,Synonymous_H550H,Synonymous_H552H,Synonymous_H585H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,59:131:99:1326,0,1677:52:99:0.450 chr8 72942210 rs3824151;rs77347465 G T 3655.85 PASS DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=49;MQ0=0;QD=26.11;SB=-2431.63;TI=NR_033652,NR_033651,NM_007332;GI=LOC100132891,LOC100132891,TRPA1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,140:140:99:3656,259,0:49:99:1.000 chr8 72946622 . TA T 212.87 R8 BaseQRankSum=-2.835;DP=68;FS=0.000;HRun=13;HaplotypeScore=93.2964;MQ=56;MQ0=0;MQRankSum=0.483;QD=3.13;ReadPosRankSum=-0.209;SB=-123.10;TI=NR_033652,NR_033651,NM_007332;GI=LOC100132891,LOC100132891,TRPA1;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,15:68:99:252,0,730:56:99:0.273 chr8 72966002 rs3735943 G A 2952.71 PASS DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6819;MQ=53;MQ0=0;QD=25.90;SB=-2161.16;TI=NR_033652,NR_033651,NM_007332;GI=LOC100132891,LOC100132891,TRPA1;FC=Silent,Silent,Synonymous_L544L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:114:99:2986,211,0:53:99:1.000 chr8 72975801 rs7819749 T G 4638.01 PASS DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=58;MQ0=0;QD=27.77;SB=-3068.43;TI=NM_007332;GI=TRPA1;FC=Missense_K186N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:167:99:4638,331,0:58:99:1.000 chr8 72981327 rs1811457 A G 3421.40 PASS BaseQRankSum=0.672;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0644;MQ=51;MQ0=0;MQRankSum=0.240;QD=27.15;ReadPosRankSum=1.504;SB=-1979.34;TI=NM_007332;GI=TRPA1;FC=Synonymous_N125N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,123:126:99:3421,208,0:51:99:0.976 chr8 72984041 rs16937976 C G 772.31 PASS BaseQRankSum=-1.675;DP=64;Dels=0.00;FS=3.541;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-0.814;QD=12.07;ReadPosRankSum=0.249;SB=-287.61;TI=NM_007332;GI=TRPA1;FC=Missense_R58T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,30:64:99:802,0,900:57:99:0.469 chr8 72987638 rs13268757 G A 568.07 PASS BaseQRankSum=1.128;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9947;MQ=54;MQ0=0;MQRankSum=0.071;QD=14.57;ReadPosRankSum=-0.128;SB=-304.10;TI=NM_007332;GI=TRPA1;FC=Missense_R3C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,23:39:99:598,0,331:54:99:0.590 chr8 74888494 rs2306486 C T 624.44 PASS BaseQRankSum=1.446;DP=58;Dels=0.00;FS=1.023;HRun=0;HaplotypeScore=6.6264;MQ=52;MQ0=0;MQRankSum=0.840;QD=10.77;ReadPosRankSum=-1.197;SB=-404.96;TI=NM_017866,NM_001040613,NR_033334;GI=TMEM70,TMEM70,TMEM70;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,29:58:99:654,0,665:52:99:0.500 chr8 74893880 rs7108 C T 2257.23 PASS BaseQRankSum=3.126;DP=168;Dels=0.00;FS=1.249;HRun=1;HaplotypeScore=5.4154;MQ=58;MQ0=0;MQRankSum=1.359;QD=13.44;ReadPosRankSum=1.120;SB=-985.92;TI=NM_017866,NM_001040613,NR_033334;GI=TMEM70,TMEM70,TMEM70;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,74:168:99:2287,0,2863:58:99:0.440 chr8 74894748 rs2291217 A G 3111.07 PASS BaseQRankSum=3.169;DP=278;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4683;MQ=59;MQ0=0;MQRankSum=-0.996;QD=11.19;ReadPosRankSum=-0.275;SB=-1687.06;TI=NM_017866,NM_001040613,NR_033334;GI=TMEM70,TMEM70,TMEM70;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:152,126:278:99:3141,0,3933:59:99:0.453 chr8 74917084 rs6472812 A G 4093.97 PASS DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5630;MQ=57;MQ0=0;QD=30.55;SB=-2037.56;TI=NM_015364,NM_001195797;GI=LY96,LY96;FC=Missense_R56G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:134:99:4094,301,0:57:99:1.000 chr8 75262798 rs7828201 G C 1931.73 PASS DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.41;SB=-1276.80;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Synonymous_S34S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,67:68:99:1965,141,0:54:99:1.000 chr8 75276959 rs1135715 A G 2739.61 PASS BaseQRankSum=0.602;DP=232;Dels=0.00;FS=2.941;HRun=0;HaplotypeScore=12.0411;MQ=56;MQ0=0;MQRankSum=2.150;QD=11.81;ReadPosRankSum=1.671;SB=-1839.58;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,112:232:99:2770,0,3373:56:99:0.483 chr8 75277399 rs7007283 A G 10926.74 PASS BaseQRankSum=1.681;DP=338;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=16.1615;MQ=56;MQ0=0;MQRankSum=-1.209;QD=32.33;ReadPosRankSum=-1.650;SB=-4770.90;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,337:338:99:10927,807,0:56:99:0.997 chr8 75277432 rs4737414 C G 4976.50 PASS BaseQRankSum=3.392;DP=404;Dels=0.00;FS=0.362;HRun=0;HaplotypeScore=11.0970;MQ=56;MQ0=0;MQRankSum=3.024;QD=12.32;ReadPosRankSum=0.965;SB=-2940.24;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:206,198:404:99:4976,0,5139:56:99:0.490 chr8 75278480 rs16938896 G T 2019.04 PASS BaseQRankSum=0.581;DP=159;Dels=0.00;FS=0.592;HRun=3;HaplotypeScore=12.1118;MQ=57;MQ0=0;MQRankSum=0.726;QD=12.70;ReadPosRankSum=0.057;SB=-1176.64;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,76:159:99:2049,0,2175:57:99:0.478 chr8 77690563 rs16939357 T C 2115.05 PASS BaseQRankSum=4.318;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4426;MQ=56;MQ0=0;MQRankSum=2.122;QD=14.59;ReadPosRankSum=1.367;SB=-1373.97;TI=NM_024721;GI=ZFHX4;FC=Synonymous_H1071H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,85:145:99:2145,0,1327:56:99:0.586 chr8 77745635 rs2733733 G A 1115.09 PASS BaseQRankSum=1.438;DP=94;Dels=0.00;FS=3.942;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.106;QD=11.86;ReadPosRankSum=-1.173;SB=-553.68;TI=NM_024721;GI=ZFHX4;FC=Synonymous_S1129S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,45:94:99:1145,0,1200:52:99:0.479 chr8 77754904 rs1825366 G A 507.89 PASS BaseQRankSum=1.322;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=0.086;QD=9.96;ReadPosRankSum=-0.770;SB=-331.38;TI=NM_024721;GI=ZFHX4;FC=Synonymous_E1136E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,22:51:99:538,0,676:53:99:0.431 chr8 77765301 . T A 52.71 LowVariantFreq;SB BaseQRankSum=0.857;DP=55;Dels=0.16;FS=17.681;HRun=0;HaplotypeScore=97.4829;MQ=47;MQ0=0;MQRankSum=0.458;QD=0.96;ReadPosRankSum=-2.849;SB=-0.01;TI=NM_024721;GI=ZFHX4;FC=Synonymous_P2048P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,5:46:82.70:83,0,809:47:53:0.122 chr8 77767797 rs16939379 C T 2824.92 PASS BaseQRankSum=2.963;DP=195;Dels=0.00;FS=2.486;HRun=0;HaplotypeScore=7.3075;MQ=55;MQ0=0;MQRankSum=1.253;QD=14.49;ReadPosRankSum=1.517;SB=-1596.86;TI=NM_024721;GI=ZFHX4;FC=Synonymous_G2880G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,99:195:99:2855,0,2453:55:99:0.508 chr8 77895865 rs10087163 A G 5644.87 PASS DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6816;MQ=58;MQ0=0;QD=30.68;SB=-3618.23;TI=NM_000318,NM_001079867,NM_001172087,NM_001172086;GI=PEX2,PEX2,PEX2,PEX2;FC=Missense_C184R,Missense_C184R,Missense_C184R,Missense_C184R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,184:184:99:5645,412,0:58:99:1.000 chr8 86389403 rs703 T C 6520.20 PASS BaseQRankSum=-1.157;DP=245;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.9082;MQ=52;MQ0=0;MQRankSum=-0.336;QD=26.61;ReadPosRankSum=0.766;SB=-4329.71;TI=NM_000067;GI=CA2;FC=Synonymous_L188L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,243:245:99:6520,428,0:52:99:0.992 chr8 87666251 rs4961206 T G 2412.43 PASS DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.78;SB=-1364.25;TI=NM_019098;GI=CNGB3;FC=Missense_T298P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2445,178,0:56:99:1.000 chr8 87679303 rs6471482 A C 2525.17 PASS BaseQRankSum=-0.194;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7605;MQ=52;MQ0=0;MQRankSum=1.983;QD=26.58;ReadPosRankSum=-0.765;SB=-1723.96;TI=NM_019098;GI=CNGB3;FC=Missense_C234W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,93:95:99:2558,145,0:52:99:0.979 chr8 87680406 rs71574292 G GA 366.14 R8 BaseQRankSum=1.717;DP=64;FS=12.260;HRun=11;HaplotypeScore=128.4910;MQ=55;MQ0=0;MQRankSum=0.381;QD=5.72;ReadPosRankSum=1.686;SB=-141.29;TI=NM_019098;GI=CNGB3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,21:64:99:405,0,783:55:99:0.356 chr8 90958422 rs1061302 T C 3106.51 PASS BaseQRankSum=0.745;DP=234;Dels=0.00;FS=10.594;HRun=0;HaplotypeScore=12.8908;MQ=55;MQ0=0;MQRankSum=1.936;QD=13.28;ReadPosRankSum=-0.020;SB=-1936.13;TI=NM_002485;GI=NBN;FC=Synonymous_P672P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,126:234:99:3137,0,2606:55:99:0.538 chr8 90958530 rs2308962 T C 2124.27 PASS BaseQRankSum=1.428;DP=139;Dels=0.00;FS=6.895;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=0.310;QD=15.28;ReadPosRankSum=-0.318;SB=-671.43;TI=NM_002485;GI=NBN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,74:139:99:2154,0,1817:55:99:0.536 chr8 90967711 rs709816 A G 687.12 PASS BaseQRankSum=1.239;DP=67;Dels=0.00;FS=0.972;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.693;QD=10.26;ReadPosRankSum=0.095;SB=-391.49;TI=NM_002485;GI=NBN;FC=Synonymous_D399D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,28:67:99:717,0,984:54:99:0.418 chr8 90990479 rs1805794 C G 770.31 PASS BaseQRankSum=2.354;DP=85;Dels=0.00;FS=2.965;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.594;QD=9.06;ReadPosRankSum=0.231;SB=-399.97;TI=NM_002485;GI=NBN;FC=Missense_E185Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,32:85:99:800,0,1184:54:99:0.376 chr8 90995019 rs1063045 C T 1226.69 PASS BaseQRankSum=1.040;DP=129;Dels=0.00;FS=1.418;HRun=1;HaplotypeScore=3.7874;MQ=54;MQ0=0;MQRankSum=0.451;QD=9.51;ReadPosRankSum=0.935;SB=-861.00;TI=NM_002485;GI=NBN;FC=Synonymous_L34L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,57:129:99:1257,0,1683:54:99:0.445 chr8 91064126 rs7162 G A 1310.75 PASS BaseQRankSum=2.514;DP=110;Dels=0.00;FS=0.708;HRun=2;HaplotypeScore=3.7878;MQ=56;MQ0=0;MQRankSum=-0.685;QD=11.92;ReadPosRankSum=0.111;SB=-852.80;TI=NM_001359;GI=DECR1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,54:110:99:1341,0,1286:56:99:0.491 chr8 94794620 rs3097427 C T 1860.98 PASS DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49;MQ0=0;QD=24.49;SB=-1413.88;TI=NM_001142301,NM_153704,NR_024522;GI=TMEM67,TMEM67,TMEM67;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:76:99:1894,132,0:49:99:1.000 chr8 94808165 rs3134031 A G 2183.62 PASS DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=29.11;SB=-1461.96;TI=NM_001142301,NM_153704,NR_024522;GI=TMEM67,TMEM67,TMEM67;FC=Missense_I523V,Missense_I604V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2217,160,0:51:99:1.000 chr8 94831346 rs3133973 G A 2516.30 PASS DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=30.32;SB=-1305.41;TI=NR_024522;GI=TMEM67;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2549,184,0:56:99:1.000 chr8 95419698 rs2291439 A G 1439.11 PASS BaseQRankSum=2.309;DP=102;Dels=0.00;FS=2.820;HRun=0;HaplotypeScore=2.8888;MQ=56;MQ0=0;MQRankSum=0.455;QD=14.11;ReadPosRankSum=-1.037;SB=-468.24;TI=NM_012415;GI=RAD54B;FC=Synonymous_N250N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,51:102:99:1469,0,1467:56:99:0.500 chr8 96047806 . T TA 143.20 R8 BaseQRankSum=0.561;DP=33;FS=1.574;HRun=13;HaplotypeScore=72.0248;MQ=57;MQ0=0;MQRankSum=0.854;QD=4.34;ReadPosRankSum=1.927;SB=-64.09;TI=NM_152416;GI=C8orf38;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,10:33:99:182,0,225:57:99:0.435 chr8 97239126 rs7827095 T C 7879.06 PASS DP=251;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5487;MQ=55;MQ0=0;QD=31.39;SB=-3129.88 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,251:251:99:7879,578,0:55:99:1.000 chr8 97239613 rs2292836 A C 8811.66 PASS BaseQRankSum=1.721;DP=308;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.2131;MQ=56;MQ0=0;MQRankSum=1.676;QD=28.61;ReadPosRankSum=1.293;SB=-4992.30;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,307:308:99:8812,638,0:56:99:0.997 chr8 97240129 rs10504961 C T 7387.44 PASS DP=221;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7829;MQ=58;MQ0=0;QD=33.43;SB=-3406.99;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,221:221:99:7387,545,0:58:99:1.000 chr8 97240847 rs13253635 A G 6111.61 PASS DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6545;MQ=58;MQ0=0;QD=33.77;SB=-2860.91;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,181:181:99:6112,451,0:58:99:1.000 chr8 97242124 rs7002575 G A 4305.21 PASS DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6689;MQ=54;MQ0=1;QD=33.90;SB=-1924.59;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:4305,328,0:54:99:1.000 chr8 97242133 rs35954659 ACT A 6882.55 PASS DP=127;FS=0.000;HRun=0;HaplotypeScore=563.8949;MQ=54;MQ0=1;QD=54.19;SB=-2737.17;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,125:125:99:6883,376,0:54:99:0.992 chr8 97242849 rs7836698 C T 6856.95 PASS DP=238;Dels=0.03;FS=0.000;HRun=5;HaplotypeScore=14.8574;MQ=55;MQ0=0;QD=28.81;SB=-3445.11;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,231:231:99:6857,494,0:55:99:1.000 chr8 97243720 rs2292835 G A 933.04 PASS DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=37.32;SB=-112.85;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,25:25:75.23:966,75,0:58:75:1.000 chr8 99153088 rs17184326 A C 1024.69 PASS BaseQRankSum=0.054;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=52;MQ0=0;MQRankSum=1.598;QD=11.64;ReadPosRankSum=-1.106;SB=-672.39;TI=NM_001145860,NM_001145861,NM_015029;GI=POP1,POP1,POP1;FC=Missense_K522N,Missense_K522N,Missense_K522N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,44:88:99:1055,0,993:52:99:0.500 chr8 99153126 rs28575522 C T 857.86 PASS BaseQRankSum=1.533;DP=65;Dels=0.00;FS=2.089;HRun=0;HaplotypeScore=2.9989;MQ=54;MQ0=0;MQRankSum=1.915;QD=13.20;ReadPosRankSum=-1.230;SB=-481.58;TI=NM_001145860,NM_001145861,NM_015029;GI=POP1,POP1,POP1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,35:65:99:888,0,612:54:99:0.538 chr8 100133706 rs7460625 T G 907.87 PASS DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=32.42;SB=-243.24;TI=NM_181661,NM_015243,NM_017890,NM_152564;GI=VPS13B,VPS13B,VPS13B,VPS13B;FC=Nonsense_Y413X,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,28:28:69.22:941,69,0:60:69:1.000 chr8 100493820 rs35543295 C T 640.39 PASS BaseQRankSum=-2.364;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8773;MQ=57;MQ0=0;MQRankSum=-0.253;QD=13.92;ReadPosRankSum=-1.374;SB=-304.79;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,22:46:99:670,0,506:57:99:0.478 chr8 100844603 . C T 34.40 SB;LowDP BaseQRankSum=-1.637;DP=17;Dels=0.00;FS=14.564;HRun=4;HaplotypeScore=26.7090;MQ=39;MQ0=0;MQRankSum=-1.152;QD=2.02;ReadPosRankSum=-0.910;SB=-0.01;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Missense_R3138C,Missense_R3113C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,4:17:64.39:64,0,260:39:34:0.250 chr8 102570910 . G A 3005.84 PASS BaseQRankSum=1.259;DP=260;Dels=0.00;FS=0.472;HRun=1;HaplotypeScore=7.1697;MQ=52;MQ0=0;MQRankSum=2.216;QD=11.56;ReadPosRankSum=0.275;SB=-1504.62;TI=NM_024915;GI=GRHL2;FC=Missense_R183Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:132,128:260:99:3036,0,3210:52:99:0.492 chr8 103220351 rs59015244 A G 1323.47 PASS DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=30.08;SB=-563.29;TI=NM_001172477,NM_001172478,NM_015713;GI=RRM2B,RRM2B,RRM2B;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:99:1356,99,0:53:99:1.000 chr8 103663912 rs11552577 T G 4609.00 PASS BaseQRankSum=0.291;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3641;MQ=56;MQ0=0;MQRankSum=1.187;QD=30.93;ReadPosRankSum=0.540;SB=-2819.99;TI=NM_001032282,NM_005655;GI=KLF10,KLF10;FC=Synonymous_T205T,Synonymous_T216T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,146:149:99:4609,302,0:56:99:0.986 chr8 104312341 rs3736047 A G 1426.71 PASS BaseQRankSum=1.528;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-0.320;QD=11.89;ReadPosRankSum=0.612;SB=-749.92;TI=NM_001164615,NM_001164616,NM_003506;GI=FZD6,FZD6,FZD6;FC=Synonymous_E2E,Silent,Synonymous_E2E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,52:120:99:1457,0,1798:57:99:0.433 chr8 104312432 rs827528 A G 4028.05 PASS BaseQRankSum=0.861;DP=348;Dels=0.00;FS=8.832;HRun=0;HaplotypeScore=7.4485;MQ=53;MQ0=0;MQRankSum=2.430;QD=11.57;ReadPosRankSum=1.665;SB=-2590.94;TI=NM_001164615,NM_001164616,NM_003506;GI=FZD6,FZD6,FZD6;FC=Missense_M33V,Missense_M1V,Missense_M33V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:177,170:348:99:4028,0,4115:53:99:0.490 chr8 104337096 rs3808554 A G 4622.86 PASS BaseQRankSum=1.248;DP=397;Dels=0.00;FS=1.646;HRun=2;HaplotypeScore=9.0871;MQ=56;MQ0=0;MQRankSum=4.280;QD=11.64;ReadPosRankSum=0.688;SB=-2922.12;TI=NM_001164615,NM_001164616,NM_003506;GI=FZD6,FZD6,FZD6;FC=Synonymous_L254L,Synonymous_L222L,Synonymous_L254L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:205,192:397:99:4623,0,4937:56:99:0.484 chr8 104337367 rs3808553 A C 2283.63 PASS BaseQRankSum=-1.994;DP=143;Dels=0.00;FS=0.621;HRun=0;HaplotypeScore=14.5510;MQ=58;MQ0=0;MQRankSum=1.294;QD=15.97;ReadPosRankSum=-0.091;SB=-1230.19;TI=NM_001164615,NM_001164616,NM_003506;GI=FZD6,FZD6,FZD6;FC=Missense_M345L,Missense_M313L,Missense_M345L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,77:143:99:2314,0,1868:58:99:0.538 chr8 104343686 rs1053917 G A 927.37 PASS BaseQRankSum=2.426;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-1.331;QD=11.31;ReadPosRankSum=-1.276;SB=-675.70;TI=NM_001164615,NM_001164616,NM_003506;GI=FZD6,FZD6,FZD6;FC=Synonymous_P690P,Synonymous_P658P,Synonymous_P690P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,42:82:99:957,0,976:57:99:0.512 chr8 104394744 rs3098233 T C 1219.33 PASS DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8924;MQ=51;MQ0=0;QD=26.51;SB=-887.13;TI=NM_138455;GI=CTHRC1;FC=Synonymous_G216G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:90.28:1252,90,0:51:90:1.000 chr8 104427359 rs3134295 A C 917.35 PASS BaseQRankSum=2.537;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6195;MQ=56;MQ0=0;MQRankSum=0.757;QD=12.92;ReadPosRankSum=2.375;SB=-358.99;TI=NM_030780,NM_015420;GI=SLC25A32,DCAF13;FC=Silent,Missense_R47S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,32:71:99:947,0,1082:56:99:0.451 chr8 105478933 rs2298840 G A 693.66 PASS BaseQRankSum=0.765;DP=72;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.9848;MQ=56;MQ0=0;MQRankSum=0.686;QD=9.63;ReadPosRankSum=-0.346;SB=-350.85;TI=NM_001385;GI=DPYS;FC=Synonymous_F72F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,32:72:99:724,0,1002:56:99:0.444 chr8 105479134 . C T 422.62 PASS BaseQRankSum=1.376;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8305;MQ=58;MQ0=0;MQRankSum=-0.029;QD=17.61;ReadPosRankSum=0.263;SB=-62.74;TI=NM_001385;GI=DPYS;FC=Synonymous_S5S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,14:24:99:453,0,307:58:99:0.583 chr8 105479149 rs2959023 A G 715.65 PASS DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=34.08;SB=-80.66;TI=NM_001385;GI=DPYS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,21:21:57.18:749,57,0:58:57:1.000 chr8 108306155 rs10505104 G C 871.46 PASS BaseQRankSum=1.551;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8939;MQ=49;MQ0=0;MQRankSum=-2.301;QD=9.58;ReadPosRankSum=-0.810;SB=-660.99;TI=NM_001146,NM_001199859;GI=ANGPT1,ANGPT1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,41:91:99:901,0,1135:49:99:0.451 chr8 108315599 . C CA 130.04 R8 BaseQRankSum=-1.323;DP=47;FS=1.413;HRun=15;HaplotypeScore=141.1019;MQ=54;MQ0=0;MQRankSum=1.449;QD=2.77;ReadPosRankSum=-2.129;SB=-26.85;TI=NM_001146,NM_001199859;GI=ANGPT1,ANGPT1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,14:46:99:169,0,466:54:99:0.341 chr8 108334162 . G T 1462.19 PASS BaseQRankSum=2.428;DP=157;Dels=0.00;FS=6.177;HRun=1;HaplotypeScore=1.8888;MQ=54;MQ0=0;MQRankSum=0.471;QD=9.31;ReadPosRankSum=1.937;SB=-582.92;TI=NM_001146,NM_001199859;GI=ANGPT1,ANGPT1;FC=Missense_T257K,Missense_T257K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,58:157:99:1492,0,2498:54:99:0.369 chr8 113237045 rs4876458 C T 1188.07 PASS BaseQRankSum=1.256;DP=113;Dels=0.00;FS=2.451;HRun=0;HaplotypeScore=4.7744;MQ=53;MQ0=0;MQRankSum=0.210;QD=10.51;ReadPosRankSum=-1.427;SB=-757.70;TI=NM_198124,NM_198123,NM_052900;GI=CSMD3,CSMD3,CSMD3;FC=Synonymous_A3653A,Synonymous_A3693A,Synonymous_A3524A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,52:113:99:1218,0,1259:53:99:0.468 chr8 113241088 rs1592624 T G 823.22 PASS BaseQRankSum=0.070;DP=94;Dels=0.00;FS=1.794;HRun=0;HaplotypeScore=6.4636;MQ=53;MQ0=0;MQRankSum=0.516;QD=8.76;ReadPosRankSum=0.493;SB=-368.99;TI=NM_198124,NM_198123,NM_052900;GI=CSMD3,CSMD3,CSMD3;FC=Missense_N3581H,Missense_N3621H,Missense_N3452H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,35:94:99:853,0,1641:53:99:0.372 chr8 113308243 rs4876462 A G 138.17 PASS BaseQRankSum=0.539;DP=30;Dels=0.00;FS=4.054;HRun=0;HaplotypeScore=1.8938;MQ=54;MQ0=0;MQRankSum=0.098;QD=4.61;ReadPosRankSum=-0.245;SB=-12.92;TI=NM_198124,NM_198123,NM_052900;GI=CSMD3,CSMD3,CSMD3;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,7:30:99:168,0,638:54:99:0.233 chr8 113504883 . C T 1059.53 PASS BaseQRankSum=-0.106;DP=112;Dels=0.00;FS=2.454;HRun=1;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=0.698;QD=9.46;ReadPosRankSum=-1.197;SB=-772.10;TI=NM_198124,NM_198123,NM_052900;GI=CSMD3,CSMD3,CSMD3;FC=Missense_G1665S,Missense_G1705S,Missense_G1601S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,49:112:99:1090,0,1486:53:99:0.438 chr8 113516208 . TG T 2185.89 PASS BaseQRankSum=0.022;DP=118;FS=0.000;HRun=1;HaplotypeScore=385.1184;MQ=50;MQ0=0;MQRankSum=0.498;QD=18.52;ReadPosRankSum=-1.509;SB=-1057.80;TI=NM_198124,NM_198123,NM_052900;GI=CSMD3,CSMD3,CSMD3;FC=Splicing,Splicing,Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:79,24:118:99:2228,259,0:50:99:0.233 chr8 114111197 rs61753741 T A 2717.41 PASS BaseQRankSum=3.986;DP=223;Dels=0.00;FS=1.037;HRun=5;HaplotypeScore=4.6818;MQ=55;MQ0=0;MQRankSum=0.390;QD=12.19;ReadPosRankSum=-2.334;SB=-1763.49;TI=NM_198124,NM_198123,NM_052900;GI=CSMD3,CSMD3,CSMD3;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,116:223:99:2747,0,2536:55:99:0.520 chr8 116635872 rs35329862 T TA 1208.97 PASS BaseQRankSum=0.073;DP=88;FS=1.796;HRun=1;HaplotypeScore=135.5148;MQ=56;MQ0=0;MQRankSum=1.064;QD=13.74;ReadPosRankSum=1.633;SB=-479.27;TI=NM_014112;GI=TRPS1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,35:88:99:1248,0,1876:56:99:0.407 chr8 117864952 . TA T 73.63 LowVariantFreq;R8 BaseQRankSum=0.993;DP=35;FS=3.794;HRun=14;HaplotypeScore=81.0526;MQ=54;MQ0=0;MQRankSum=-0.232;QD=2.10;ReadPosRankSum=-0.021;SB=-54.90;TI=NM_006265;GI=RAD21;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,6:35:99:113,0,371:54:74:0.194 chr8 118184783 rs13266634 C T 2027.65 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=27.78;SB=-1171.41;TI=NM_001172811,NM_001172815,NM_001172813,NM_173851,NM_001172814;GI=SLC30A8,SLC30A8,SLC30A8,SLC30A8,SLC30A8;FC=Missense_R276W,Missense_R276W,Missense_R276W,Missense_R325W,Missense_R276W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2061,150,0:55:99:1.000 chr8 118819578 rs7837891 C T 1753.21 PASS DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=59;MQ0=0;QD=30.23;SB=-1001.46;TI=NM_000127;GI=EXT1;FC=Synonymous_E587E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1786,129,0:59:99:1.000 chr8 118832020 rs17439693 G A 1769.84 PASS BaseQRankSum=1.599;DP=158;Dels=0.00;FS=2.830;HRun=1;HaplotypeScore=8.1161;MQ=53;MQ0=0;MQRankSum=1.290;QD=11.20;ReadPosRankSum=-0.725;SB=-1166.03;TI=NM_000127;GI=EXT1;FC=Synonymous_P477P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,78:158:99:1800,0,1912:53:99:0.497 chr8 118847782 rs11546829 G A 600.29 PASS BaseQRankSum=0.880;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7041;MQ=54;MQ0=0;MQRankSum=0.761;QD=10.00;ReadPosRankSum=1.752;SB=-476.09;TI=NM_000127;GI=EXT1;FC=Synonymous_C355C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,30:60:99:630,0,629:54:99:0.500 chr8 119941173 rs3134046 A G 775.57 PASS DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=35.25;SB=-70.27;TI=NM_002546;GI=TNFRSF11B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,22:22:60.20:809,60,0:59:60:1.000 chr8 124824826 rs1946586;rs77365932 G A 5604.99 PASS DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=54;MQ0=2;QD=30.46;SB=-3305.17;TI=NM_144963;GI=FAM91A1;FC=Missense_C800Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,182:184:99:5605,409,0:54:99:1.000 chr8 128428638 rs6998061;rs75641460;rs77932649 G A 3432.19 PASS BaseQRankSum=0.409;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=55;MQ0=0;MQRankSum=0.409;QD=31.20;ReadPosRankSum=0.976;SB=-1391.89;TI=NM_001159542;GI=POU5F1B;FC=Missense_G176E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,109:110:99:3432,219,0:55:99:0.991 chr8 128428795 rs6998254;rs62513968 G A 4473.75 PASS BaseQRankSum=0.569;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1251;MQ=56;MQ0=0;MQRankSum=0.237;QD=30.64;ReadPosRankSum=-0.973;SB=-2764.59;TI=NM_001159542;GI=POU5F1B;FC=Synonymous_Q228Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,145:146:99:4474,293,0:56:99:0.993 chr8 128428823 rs7002225;rs60346131 G C 4857.52 PASS BaseQRankSum=-1.176;DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5865;MQ=57;MQ0=0;MQRankSum=-0.299;QD=29.98;ReadPosRankSum=-1.390;SB=-2921.60;TI=NM_001159542;GI=POU5F1B;FC=Missense_E238Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,161:162:99:4858,324,0:57:99:0.994 chr8 128751201 rs2070582 G A 1541.19 PASS BaseQRankSum=0.643;DP=148;Dels=0.00;FS=2.166;HRun=0;HaplotypeScore=19.6448;MQ=54;MQ0=0;MQRankSum=2.065;QD=10.41;ReadPosRankSum=-1.892;SB=-718.38;TI=NM_002467;GI=MYC;FC=Synonymous_P246P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,61:148:99:1571,0,2228:54:99:0.421 chr8 128951805 rs2278176 C T 876.91 PASS BaseQRankSum=1.050;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=-0.110;QD=11.54;ReadPosRankSum=0.371;SB=-440.15;TI=NR_003367;GI=PVT1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,34:76:99:907,0,1149:58:99:0.447 chr8 129108823 rs11604 C T 1611.01 PASS BaseQRankSum=-0.680;DP=118;Dels=0.00;FS=0.698;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-0.203;QD=13.65;ReadPosRankSum=1.304;SB=-1017.63;TI=NR_003367;GI=PVT1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,66:118:99:1641,0,1277:52:99:0.559 chr8 129113373 rs10453 C T 1550.24 PASS BaseQRankSum=3.132;DP=112;Dels=0.00;FS=4.776;HRun=0;HaplotypeScore=29.5177;MQ=50;MQ0=0;MQRankSum=3.015;QD=13.84;ReadPosRankSum=-0.555;SB=-866.82;TI=NR_003367;GI=PVT1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,61:112:99:1580,0,1305:50:99:0.545 chr8 129113456 rs3901778 C T 5164.71 PASS DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.2004;MQ=49;MQ0=0;QD=29.85;SB=-2482.07;TI=NR_003367;GI=PVT1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,172:173:99:5165,391,0:49:99:1.000 chr8 129113507 rs3931279 G A 1904.85 PASS BaseQRankSum=0.959;DP=144;Dels=0.00;FS=1.393;HRun=0;HaplotypeScore=12.1501;MQ=51;MQ0=0;MQRankSum=-1.055;QD=13.23;ReadPosRankSum=2.599;SB=-1018.91 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,80:144:99:1935,0,1556:51:99:0.556 chr8 132982824 rs1051221 A G 6501.90 PASS DP=240;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6221;MQ=56;MQ0=0;QD=27.09;SB=-4562.74;TI=NM_015137;GI=EFR3A;FC=Missense_N365D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,239:240:99:6502,464,0:56:99:1.000 chr8 132998445 . T C 776.62 PASS BaseQRankSum=0.168;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=53;MQ0=0;MQRankSum=2.636;QD=9.96;ReadPosRankSum=-0.249;SB=-441.55;TI=NM_015137;GI=EFR3A;FC=Missense_I625T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,32:78:99:807,0,1119:53:99:0.410 chr8 133150176 . G A 1076.22 PASS BaseQRankSum=1.440;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2312;MQ=57;MQ0=0;MQRankSum=1.736;QD=10.25;ReadPosRankSum=-0.696;SB=-836.76;TI=NM_004519;GI=KCNQ3;FC=Synonymous_A552A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,50:105:99:1106,0,1196:57:99:0.476 chr8 133880436 . C T 1275.42 PASS BaseQRankSum=0.651;DP=121;Dels=0.00;FS=4.397;HRun=0;HaplotypeScore=6.4697;MQ=51;MQ0=0;MQRankSum=1.715;QD=10.54;ReadPosRankSum=1.767;SB=-922.21;TI=NM_003235;GI=TG;FC=Synonymous_Y48Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,58:121:99:1305,0,1463:51:99:0.479 chr8 133900252 rs180223 T G 1644.87 PASS DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7876;MQ=56;MQ0=0;QD=33.57;SB=-421.10;TI=NM_003235;GI=TG;FC=Missense_S734A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1678,126,0:56:99:1.000 chr8 133900386 rs2069550 T C 10531.85 PASS DP=380;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=15.8415;MQ=54;MQ0=0;QD=27.72;SB=-5790.84;TI=NM_003235;GI=TG;FC=Synonymous_P778P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,379:380:99:10532,758,0:54:99:1.000 chr8 133909974 rs853326 A G 6995.73 PASS DP=254;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1586;MQ=54;MQ0=1;QD=27.54;SB=-4026.10;TI=NM_003235;GI=TG;FC=Missense_M1028V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,253:254:99:6996,500,0:54:99:1.000 chr8 133920518 rs75865560 A G 1062.43 PASS BaseQRankSum=0.218;DP=128;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=-1.171;QD=8.30;ReadPosRankSum=1.442;SB=-817.76;TI=NM_003235;GI=TG;FC=Missense_D1312G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,53:128:99:1092,0,1725:52:99:0.414 chr8 133931748 rs853304 T C 884.39 PASS BaseQRankSum=-0.271;DP=78;Dels=0.00;FS=2.243;HRun=1;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=0.492;QD=11.34;ReadPosRankSum=-1.246;SB=-338.85;TI=NM_003235;GI=TG;FC=Synonymous_A1502A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,35:78:99:914,0,1247:59:99:0.449 chr8 133975283 rs2069561 G A 901.22 PASS BaseQRankSum=-0.472;DP=89;Dels=0.00;FS=2.782;HRun=4;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.406;QD=10.13;ReadPosRankSum=0.078;SB=-664.50;TI=NM_003235;GI=TG;FC=Missense_D1838N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,44:89:99:931,0,1080:54:99:0.494 chr8 133984058 rs2076740 C T 969.68 PASS BaseQRankSum=1.409;DP=89;Dels=0.00;FS=1.770;HRun=0;HaplotypeScore=2.8662;MQ=54;MQ0=0;MQRankSum=1.179;QD=10.90;ReadPosRankSum=1.212;SB=-521.02;TI=NM_003235;GI=TG;FC=Missense_R1999W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,42:89:99:1000,0,1109:54:99:0.472 chr8 134108453 rs2069568 C T 5735.86 PASS DP=187;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3097;MQ=56;MQ0=0;QD=30.67;SB=-3183.67;TI=NM_003235,NM_001045557,NM_001045556;GI=TG,SLA,SLA;FC=Synonymous_L2470L,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,187:187:99:5736,418,0:56:99:1.000 chr8 134125682 rs1133076 G A 2284.70 PASS DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0661;MQ=51;MQ0=0;QD=27.86;SB=-1070.48;TI=NM_003235;GI=TG;FC=Missense_R2530Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:82:99:2318,172,0:51:99:1.000 chr8 134144113 rs2294024 C T 5916.92 PASS DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.6742;MQ=55;MQ0=0;QD=30.98;SB=-3618.27;TI=NM_003235;GI=TG;FC=Synonymous_Y2640Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,191:191:99:5917,433,0:55:99:1.000 chr8 134292516 rs2272653 A G 1053.18 PASS BaseQRankSum=0.210;DP=98;Dels=0.00;FS=6.317;HRun=1;HaplotypeScore=2.7880;MQ=51;MQ0=0;MQRankSum=2.228;QD=10.75;ReadPosRankSum=0.657;SB=-753.34;TI=NM_006096,NM_001135242;GI=NDRG1,NDRG1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,50:98:99:1083,0,1120:51:99:0.510 chr8 135521970 rs11778717 G A 639.04 PASS BaseQRankSum=1.498;DP=75;Dels=0.00;FS=0.896;HRun=0;HaplotypeScore=2.9887;MQ=53;MQ0=0;MQRankSum=1.768;QD=8.52;ReadPosRankSum=0.849;SB=-416.65;TI=NM_001174158,NM_001029939,NM_001167583,NM_001174157,NM_020863;GI=ZFAT,ZFAT,ZFAT,ZFAT,ZFAT;FC=Silent,Synonymous_A1116A,Synonymous_A1116A,Synonymous_A1066A,Synonymous_A1128A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,30:75:99:669,0,1089:53:99:0.400 chr8 135614705 rs3739423 A G 2445.80 PASS BaseQRankSum=1.453;DP=167;Dels=0.00;FS=10.933;HRun=0;HaplotypeScore=6.2821;MQ=58;MQ0=0;MQRankSum=0.399;QD=14.65;ReadPosRankSum=-0.966;SB=-951.25;TI=NM_001174158,NM_001029939,NM_001167583,NM_001174157,NM_020863;GI=ZFAT,ZFAT,ZFAT,ZFAT,ZFAT;FC=Synonymous_R407R,Synonymous_R407R,Synonymous_R407R,Synonymous_R357R,Synonymous_R419R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,87:167:99:2476,0,2166:58:99:0.521 chr8 135725086 . A C 26.31 SB;LowDP BaseQRankSum=-1.858;DP=18;Dels=0.00;FS=2.769;HRun=2;HaplotypeScore=12.8824;MQ=44;MQ0=0;MQRankSum=-2.389;QD=1.46;ReadPosRankSum=1.752;SB=-0.01;TI=NM_001174157,NM_020863;GI=ZFAT,ZFAT;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,4:18:56.29:56,0,391:44:26:0.222 chr8 140630990 rs2615374 A G 2654.81 PASS BaseQRankSum=3.069;DP=217;Dels=0.00;FS=1.695;HRun=0;HaplotypeScore=9.8309;MQ=56;MQ0=0;MQRankSum=2.650;QD=12.23;ReadPosRankSum=-0.112;SB=-1379.39;TI=NM_016601;GI=KCNK9;FC=Synonymous_G212G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:115,102:217:99:2685,0,3026:56:99:0.470 chr8 141461062 rs3735803 G A 4296.69 PASS BaseQRankSum=1.671;DP=370;Dels=0.00;FS=1.231;HRun=1;HaplotypeScore=12.7124;MQ=54;MQ0=0;MQRankSum=1.606;QD=11.61;ReadPosRankSum=2.376;SB=-2953.68;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_N137N,Synonymous_N235N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:183,187:370:99:4297,0,4192:54:99:0.505 chr8 141461185 rs63648764 A G 3073.90 PASS BaseQRankSum=2.819;DP=227;Dels=0.00;FS=8.445;HRun=0;HaplotypeScore=10.2080;MQ=58;MQ0=0;MQRankSum=0.709;QD=13.54;ReadPosRankSum=1.229;SB=-1746.26;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_F96F,Synonymous_F194F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,109:227:99:3104,0,3210:58:99:0.480 chr8 141461266 rs3735801 A G 3912.04 PASS BaseQRankSum=1.704;DP=317;Dels=0.00;FS=0.409;HRun=0;HaplotypeScore=13.9714;MQ=55;MQ0=0;MQRankSum=0.408;QD=12.34;ReadPosRankSum=0.433;SB=-2370.63;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_G69G,Synonymous_G167G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:160,157:317:99:3912,0,4121:55:99:0.495 chr8 141551407 rs2293939 G A 2106.01 PASS BaseQRankSum=2.130;DP=149;Dels=0.00;FS=1.337;HRun=0;HaplotypeScore=7.8005;MQ=52;MQ0=0;MQRankSum=2.366;QD=14.13;ReadPosRankSum=1.300;SB=-1139.89;TI=NM_001164623,NM_012154;GI=EIF2C2,EIF2C2;FC=Synonymous_R630R,Synonymous_R630R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,80:149:99:2136,0,1691:52:99:0.537 chr8 141559358 rs2292781 G A 1860.56 PASS BaseQRankSum=0.193;DP=211;Dels=0.00;FS=4.191;HRun=0;HaplotypeScore=9.1958;MQ=54;MQ0=0;MQRankSum=3.250;QD=8.82;ReadPosRankSum=-1.079;SB=-884.75;TI=NM_001164623,NM_012154;GI=EIF2C2,EIF2C2;FC=Synonymous_A481A,Synonymous_A481A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:126,83:211:99:1891,0,3037:54:99:0.397 chr8 141561393 rs2292779 G C 362.37 PASS BaseQRankSum=0.929;DP=27;Dels=0.00;FS=1.690;HRun=0;HaplotypeScore=2.9968;MQ=57;MQ0=0;MQRankSum=0.239;QD=13.42;ReadPosRankSum=1.513;SB=-318.74;TI=NM_001164623,NM_012154;GI=EIF2C2,EIF2C2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,19:27:99:392,0,235:57:99:0.704 chr8 141566311 rs2271738 C T 1645.54 PASS BaseQRankSum=1.332;DP=151;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3534;MQ=54;MQ0=0;MQRankSum=2.375;QD=10.90;ReadPosRankSum=0.872;SB=-924.23;TI=NM_001164623,NM_012154;GI=EIF2C2,EIF2C2;FC=Synonymous_A367A,Synonymous_A367A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,70:151:99:1676,0,2139:54:99:0.467 chr8 141568622 rs2292778 G A 1834.73 PASS BaseQRankSum=1.755;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5756;MQ=51;MQ0=0;MQRankSum=-1.354;QD=12.65;ReadPosRankSum=-0.908;SB=-1304.08;TI=NM_001164623,NM_012154;GI=EIF2C2,EIF2C2;FC=Synonymous_R280R,Synonymous_R280R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,80:145:99:1865,0,1647:51:99:0.552 chr8 143746087 rs33951456 CCA C 8273.16 PASS DP=193;FS=0.000;HRun=0;HaplotypeScore=204.4742;MQ=56;MQ0=0;QD=42.87;SB=-3682.64;TI=NM_001077527,NM_003724;GI=JRK,JRK;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:16,176:192:99:8273,536,0:56:99:0.917 chr8 143763490 rs2978982 T C 5409.03 PASS DP=186;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.7620;MQ=55;MQ0=0;QD=29.08;SB=-2466.85;TI=NR_033343,NM_005672;GI=PSCA,PSCA;FC=Silent,Synonymous_A95A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,184:186:99:5409,394,0:55:99:1.000 chr8 143763547 rs1045531 C A 3076.47 PASS BaseQRankSum=2.237;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4106;MQ=56;MQ0=0;MQRankSum=2.260;QD=29.58;ReadPosRankSum=-1.006;SB=-990.52;TI=NR_033343,NM_005672;GI=PSCA,PSCA;FC=Silent,Synonymous_L114L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,102:104:99:3109,199,0:56:99:0.981 chr8 143995761 rs4536 C T 4296.30 PASS DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5658;MQ=50;MQ0=0;QD=25.57;SB=-3116.06;TI=NM_000498;GI=CYP11B2;FC=Synonymous_A291A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,168:168:99:4296,301,0:50:99:1.000 chr8 144295183 rs11538389 G T 2242.88 PASS DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.02;SB=-1512.32;TI=NM_178172;GI=GPIHBP1;FC=Missense_C14F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2276,163,0:54:99:1.000 chr8 144392368 rs2293925 G A 5994.37 PASS DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2938;MQ=56;MQ0=0;QD=30.12;SB=-2770.11;TI=NM_052963;GI=TOP1MT;FC=Missense_R525W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,198:199:99:5994,433,0:56:99:1.000 chr8 144399885 rs61401831 A C 1887.84 PASS DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6000;MQ=53;MQ0=0;QD=30.45;SB=-681.07;TI=NM_052963;GI=TOP1MT;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,62:62:99:1921,141,0:53:99:1.000 chr8 144399886 rs2272636 G T 1901.22 PASS DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5894;MQ=53;MQ0=0;QD=30.66;SB=-754.71;TI=NM_052963;GI=TOP1MT;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,62:62:99:1934,141,0:53:99:1.000 chr8 144522387 rs2272754 G T 1803.22 PASS BaseQRankSum=-1.269;DP=126;Dels=0.04;FS=3.570;HRun=1;HaplotypeScore=33.5617;MQ=55;MQ0=0;MQRankSum=-0.105;QD=14.31;ReadPosRankSum=0.692;SB=-1021.31;TI=NM_015117;GI=ZC3H3;FC=Nonsense_S880X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,77:121:99:1833,0,1113:55:99:0.636 chr8 144522388 rs2272753 A T 1821.74 PASS BaseQRankSum=0.432;DP=125;Dels=0.04;FS=6.264;HRun=0;HaplotypeScore=34.4558;MQ=55;MQ0=0;MQRankSum=0.317;QD=14.57;ReadPosRankSum=0.729;SB=-1104.16;TI=NM_015117;GI=ZC3H3;FC=Missense_S880T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,75:120:99:1852,0,1005:55:99:0.630 chr8 144620183 rs4874147 T C 3888.89 PASS DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4430;MQ=52;MQ0=0;QD=29.46;SB=-2109.53;TI=NM_015117;GI=ZC3H3;FC=Missense_S452G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:132:99:3889,283,0:52:99:1.000 chr8 144657269 rs2290417 G C 3874.55 PASS DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4101;MQ=58;MQ0=0;QD=31.00;SB=-1404.97;TI=NM_145201;GI=NAPRT1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3875,289,0:58:99:1.000 chr8 144658711 rs872935 G A 8086.58 PASS DP=262;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1251;MQ=56;MQ0=0;QD=30.86;SB=-4968.99;TI=NM_145201;GI=NAPRT1;FC=Synonymous_L305L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,262:262:99:8087,593,0:56:99:1.000 chr8 144688736 rs2242090 C G 3144.94 PASS DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6141;MQ=57;MQ0=0;QD=28.08;SB=-2001.31;TI=NM_023078;GI=PYCRL;FC=Missense_K162N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:3178,232,0:57:99:1.000 chr8 144808747 rs11136321 G A 3103.35 PASS BaseQRankSum=-1.775;DP=228;Dels=0.00;FS=3.845;HRun=1;HaplotypeScore=19.5770;MQ=57;MQ0=0;MQRankSum=0.219;QD=13.61;ReadPosRankSum=1.167;SB=-1329.18;TI=NM_198488;GI=FAM83H;FC=Synonymous_L962L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,112:228:99:3133,0,3003:57:99:0.496 chr8 144809804 rs13254035 G A 3074.48 PASS DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6766;MQ=54;MQ0=0;QD=27.70;SB=-1807.08;TI=NM_198488;GI=FAM83H;FC=Synonymous_Y609Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:111:99:3107,223,0:54:99:1.000 chr8 144810322 rs28573699 G A 1379.33 PASS BaseQRankSum=1.443;DP=103;Dels=0.00;FS=1.686;HRun=0;HaplotypeScore=3.7252;MQ=56;MQ0=0;MQRankSum=-0.090;QD=13.39;ReadPosRankSum=-0.342;SB=-740.15;TI=NM_198488;GI=FAM83H;FC=Missense_H437Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,57:103:99:1409,0,1118:56:99:0.553 chr8 144811338 rs9969600 C G 7220.96 PASS DP=247;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.5915;MQ=57;MQ0=0;QD=29.23;SB=-4505.99;TI=NM_198488;GI=FAM83H;FC=Missense_Q201H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,246:247:99:7221,524,0:57:99:1.000 chr8 144874554 rs6991873 T C 1067.49 PASS DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4229;MQ=54;MQ0=0;QD=35.58;SB=-255.10;TI=NM_182706,NM_015356;GI=SCRIB,SCRIB;FC=Synonymous_P1450P,Synonymous_P1450P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,30:30:87.27:1100,87,0:54:87:1.000 chr8 144885580 rs13281371 A G 2288.94 PASS DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3191;MQ=54;MQ0=0;QD=29.35;SB=-1155.07;TI=NM_182706,NM_015356;GI=SCRIB,SCRIB;FC=Synonymous_F1192F,Synonymous_F1192F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2322,175,0:54:99:1.000 chr8 144889172 rs10866915 A G 2739.98 PASS DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=51;MQ0=0;QD=26.10;SB=-1773.46;TI=NM_182706,NM_015356;GI=SCRIB,SCRIB;FC=Synonymous_T730T,Synonymous_T730T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:2773,199,0:51:99:1.000 chr8 144890873 rs10098508 A T 3578.40 PASS DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3366;MQ=55;MQ0=0;QD=30.85;SB=-1753.86;TI=NM_182706,NM_015356;GI=SCRIB,SCRIB;FC=Missense_V674E,Missense_V674E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3578,265,0:55:99:1.000 chr8 144894496 rs4875060 G A 3486.08 PASS DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4156;MQ=52;MQ0=0;QD=27.02;SB=-2372.66;TI=NM_182706,NM_015356;GI=SCRIB,SCRIB;FC=Synonymous_T282T,Synonymous_T282T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3486,247,0:52:99:1.000 chr8 144895018 rs75171224 C T 849.26 PASS BaseQRankSum=3.303;DP=80;Dels=0.00;FS=3.297;HRun=2;HaplotypeScore=6.2756;MQ=56;MQ0=0;MQRankSum=0.314;QD=10.62;ReadPosRankSum=1.359;SB=-409.30;TI=NM_182706,NM_015356;GI=SCRIB,SCRIB;FC=Synonymous_Q252Q,Synonymous_Q252Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,36:80:99:879,0,1154:56:99:0.450 chr8 144895553 rs13251492 G A 1086.73 PASS DP=33;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=32.93;SB=-382.47;TI=NM_182706,NM_015356;GI=SCRIB,SCRIB;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:84.26:1120,84,0:58:84:1.000 chr8 144990335 rs1065837 G A 529.93 PASS BaseQRankSum=0.633;DP=33;Dels=0.00;FS=2.301;HRun=0;HaplotypeScore=2.6766;MQ=56;MQ0=0;MQRankSum=-1.175;QD=16.06;ReadPosRankSum=0.452;SB=-31.00;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,18:33:99:560,0,415:56:99:0.545 chr8 144990528 rs7014582 A G 2589.51 PASS BaseQRankSum=1.962;DP=233;Dels=0.00;FS=2.971;HRun=1;HaplotypeScore=20.1522;MQ=55;MQ0=0;MQRankSum=0.925;QD=11.11;ReadPosRankSum=-0.581;SB=-1594.27;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A4487A,Synonymous_A4491A,Synonymous_A4487A,Synonymous_A4455A,Synonymous_A4624A,Synonymous_A4465A,Synonymous_A4473A,Synonymous_A4514A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,108:233:99:2620,0,2824:55:99:0.466 chr8 144991176 rs6558405 T C 1724.58 PASS BaseQRankSum=0.651;DP=106;Dels=0.00;FS=3.797;HRun=1;HaplotypeScore=5.4413;MQ=57;MQ0=0;MQRankSum=0.997;QD=16.27;ReadPosRankSum=1.940;SB=-1011.85;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_S4271S,Synonymous_S4275S,Synonymous_S4271S,Synonymous_S4239S,Synonymous_S4408S,Synonymous_S4249S,Synonymous_S4257S,Synonymous_S4298S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,62:106:99:1755,0,1189:57:99:0.585 chr8 144992103 rs6558406 T C 3217.50 PASS BaseQRankSum=1.275;DP=264;Dels=0.00;FS=0.951;HRun=1;HaplotypeScore=14.5342;MQ=57;MQ0=0;MQRankSum=1.279;QD=12.19;ReadPosRankSum=0.431;SB=-1854.06;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_T3962T,Synonymous_T3966T,Synonymous_T3962T,Synonymous_T3930T,Synonymous_T4099T,Synonymous_T3940T,Synonymous_T3948T,Synonymous_T3989T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:146,116:264:99:3247,0,4063:57:99:0.443 chr8 144992361 rs7822511 T C 1266.71 PASS BaseQRankSum=-1.002;DP=114;Dels=0.00;FS=2.578;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=1.402;QD=11.11;ReadPosRankSum=-1.070;SB=-612.86;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_P3876P,Synonymous_P3880P,Synonymous_P3876P,Synonymous_P3844P,Synonymous_P4013P,Synonymous_P3854P,Synonymous_P3862P,Synonymous_P3903P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,49:114:99:1297,0,2129:59:99:0.430 chr8 144992862 rs7819099 A G 2081.05 PASS BaseQRankSum=1.426;DP=173;Dels=0.00;FS=4.511;HRun=1;HaplotypeScore=5.7540;MQ=56;MQ0=0;MQRankSum=1.640;QD=12.03;ReadPosRankSum=-1.313;SB=-1133.22;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A3709A,Synonymous_A3713A,Synonymous_A3709A,Synonymous_A3677A,Synonymous_A3846A,Synonymous_A3687A,Synonymous_A3695A,Synonymous_A3736A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,84:173:99:2111,0,2408:56:99:0.488 chr8 144993324 rs6984820 C T 4129.88 PASS BaseQRankSum=0.470;DP=394;Dels=0.00;FS=3.865;HRun=0;HaplotypeScore=10.2595;MQ=53;MQ0=0;MQRankSum=2.660;QD=10.48;ReadPosRankSum=-4.083;SB=-2440.80;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_T3555T,Synonymous_T3559T,Synonymous_T3555T,Synonymous_T3523T,Synonymous_T3692T,Synonymous_T3533T,Synonymous_T3541T,Synonymous_T3582T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:227,165:394:99:4130,0,5875:53:99:0.421 chr8 144993377 rs6992333 A G 3866.58 PASS BaseQRankSum=-0.751;DP=368;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.7956;MQ=53;MQ0=0;MQRankSum=2.922;QD=10.51;ReadPosRankSum=1.473;SB=-2470.35;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_L3538L,Synonymous_L3542L,Synonymous_L3538L,Synonymous_L3506L,Synonymous_L3675L,Synonymous_L3516L,Synonymous_L3524L,Synonymous_L3565L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:202,166:368:99:3867,0,4960:53:99:0.451 chr8 144994638 . G A 1130.41 PASS BaseQRankSum=-0.101;DP=75;Dels=0.00;FS=6.045;HRun=2;HaplotypeScore=6.3691;MQ=58;MQ0=0;MQRankSum=0.906;QD=15.07;ReadPosRankSum=0.450;SB=-457.43;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_F3117F,Synonymous_F3121F,Synonymous_F3117F,Synonymous_F3085F,Synonymous_F3254F,Synonymous_F3095F,Synonymous_F3103F,Synonymous_F3144F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,37:75:99:1160,0,1175:58:99:0.493 chr8 144995494 rs6558407;rs76803079 C T 1982.80 PASS BaseQRankSum=0.734;DP=162;Dels=0.00;FS=0.649;HRun=0;HaplotypeScore=3.6271;MQ=54;MQ0=2;MQRankSum=-0.228;QD=12.24;ReadPosRankSum=0.132;SB=-706.51;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Missense_R2832H,Missense_R2836H,Missense_R2832H,Missense_R2800H,Missense_R2969H,Missense_R2810H,Missense_R2818H,Missense_R2859H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,74:162:99:2013,0,2419:54:99:0.457 chr8 144995736 rs11777402 G A 948.37 PASS BaseQRankSum=1.010;DP=55;Dels=0.00;FS=1.214;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=0.348;QD=17.24;ReadPosRankSum=-1.281;SB=-280.00;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_N2751N,Synonymous_N2755N,Synonymous_N2751N,Synonymous_N2719N,Synonymous_N2888N,Synonymous_N2729N,Synonymous_N2737N,Synonymous_N2778N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,31:55:99:978,0,689:58:99:0.564 chr8 144996029 rs7833924 A G 1297.57 PASS BaseQRankSum=0.170;DP=125;Dels=0.00;FS=2.310;HRun=1;HaplotypeScore=7.4399;MQ=55;MQ0=0;MQRankSum=0.225;QD=10.38;ReadPosRankSum=0.902;SB=-908.63;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Missense_S2654P,Missense_S2658P,Missense_S2654P,Missense_S2622P,Missense_S2791P,Missense_S2632P,Missense_S2640P,Missense_S2681P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,60:125:99:1328,0,1706:55:99:0.480 chr8 144996408 rs11778026 T G 948.12 PASS BaseQRankSum=1.550;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6522;MQ=57;MQ0=0;MQRankSum=1.684;QD=10.19;ReadPosRankSum=1.085;SB=-411.35;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A2527A,Synonymous_A2531A,Synonymous_A2527A,Synonymous_A2495A,Synonymous_A2664A,Synonymous_A2505A,Synonymous_A2513A,Synonymous_A2554A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,36:93:99:978,0,1472:57:99:0.387 chr8 144997656 rs7016416 C T 1877.21 PASS BaseQRankSum=0.426;DP=119;Dels=0.00;FS=2.648;HRun=0;HaplotypeScore=6.0962;MQ=58;MQ0=0;MQRankSum=0.287;QD=15.77;ReadPosRankSum=-0.747;SB=-595.22;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A2147A,Synonymous_A2151A,Synonymous_A2147A,Synonymous_A2115A,Synonymous_A2284A,Synonymous_A2125A,Synonymous_A2133A,Synonymous_A2174A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,67:119:99:1907,0,1405:58:99:0.563 chr8 144997927 rs7002002 G A 1459.81 PASS BaseQRankSum=1.061;DP=119;Dels=0.00;FS=3.516;HRun=0;HaplotypeScore=14.9836;MQ=55;MQ0=0;MQRankSum=2.300;QD=12.27;ReadPosRankSum=-0.423;SB=-645.53;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Missense_A2057V,Missense_A2061V,Missense_A2057V,Missense_A2025V,Missense_A2194V,Missense_A2035V,Missense_A2043V,Missense_A2084V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,56:119:99:1490,0,1447:55:99:0.479 chr8 144998169 rs1140522 C T 747.63 PASS BaseQRankSum=-1.138;DP=47;Dels=0.00;FS=14.747;HRun=0;HaplotypeScore=0.9998;MQ=55;MQ0=0;MQRankSum=-0.098;QD=15.91;ReadPosRankSum=-0.878;SB=-347.13;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A1976A,Synonymous_A1980A,Synonymous_A1976A,Synonymous_A1944A,Synonymous_A2113A,Synonymous_A1954A,Synonymous_A1962A,Synonymous_A2003A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,28:47:99:778,0,570:55:99:0.596 chr8 144998190 rs2857829 A G 694.93 PASS BaseQRankSum=2.160;DP=47;Dels=0.00;FS=17.021;HRun=1;HaplotypeScore=2.5929;MQ=56;MQ0=0;MQRankSum=1.032;QD=14.79;ReadPosRankSum=-1.522;SB=-212.75;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A1969A,Synonymous_A1973A,Synonymous_A1969A,Synonymous_A1937A,Synonymous_A2106A,Synonymous_A1947A,Synonymous_A1955A,Synonymous_A1996A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,23:47:99:725,0,721:56:99:0.489 chr8 144999417 rs55836855 C T 908.96 PASS BaseQRankSum=1.133;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7186;MQ=51;MQ0=0;MQRankSum=1.175;QD=10.33;ReadPosRankSum=-0.182;SB=-446.76;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A1560A,Synonymous_A1564A,Synonymous_A1560A,Synonymous_A1528A,Synonymous_A1697A,Synonymous_A1538A,Synonymous_A1546A,Synonymous_A1587A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,36:88:99:939,0,1295:51:99:0.409 chr8 144999621 rs55646585 C T 655.75 PASS BaseQRankSum=-1.413;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.6719;MQ=54;MQ0=0;MQRankSum=0.946;QD=7.13;ReadPosRankSum=0.692;SB=-316.49;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A1492A,Synonymous_A1496A,Synonymous_A1492A,Synonymous_A1460A,Synonymous_A1629A,Synonymous_A1470A,Synonymous_A1478A,Synonymous_A1519A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,28:92:99:686,0,1588:54:99:0.304 chr8 144999642 rs56117011 A C 678.28 PASS BaseQRankSum=-0.743;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1787;MQ=55;MQ0=0;MQRankSum=0.931;QD=7.89;ReadPosRankSum=-1.138;SB=-379.60;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A1485A,Synonymous_A1489A,Synonymous_A1485A,Synonymous_A1453A,Synonymous_A1622A,Synonymous_A1463A,Synonymous_A1471A,Synonymous_A1512A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,29:86:99:708,0,1256:55:99:0.345 chr8 144999684 rs35916068 A G 792.77 PASS BaseQRankSum=0.532;DP=96;Dels=0.00;FS=4.274;HRun=1;HaplotypeScore=5.6424;MQ=56;MQ0=0;MQRankSum=1.952;QD=8.26;ReadPosRankSum=-0.640;SB=-296.00;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A1471A,Synonymous_A1475A,Synonymous_A1471A,Synonymous_A1439A,Synonymous_A1608A,Synonymous_A1449A,Synonymous_A1457A,Synonymous_A1498A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,33:96:99:823,0,1638:56:99:0.344 chr8 145000056 rs7002152 T C 421.92 PASS BaseQRankSum=1.395;DP=40;Dels=0.00;FS=1.234;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.876;QD=10.55;ReadPosRankSum=1.231;SB=-192.94;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,17:40:99:452,0,511:56:99:0.425 chr8 145001031 rs55895668 T C 2267.77 PASS BaseQRankSum=-1.600;DP=176;Dels=0.00;FS=0.562;HRun=0;HaplotypeScore=6.2381;MQ=53;MQ0=0;MQRankSum=1.792;QD=12.89;ReadPosRankSum=3.091;SB=-1358.34;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Missense_H1322R,Missense_H1326R,Missense_H1322R,Missense_H1290R,Missense_H1459R,Missense_H1300R,Missense_H1308R,Missense_H1349R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,90:176:99:2298,0,2231:53:99:0.511 chr8 145001509 rs11136333 T C 1523.68 PASS BaseQRankSum=0.739;DP=97;Dels=0.00;FS=1.757;HRun=0;HaplotypeScore=14.4789;MQ=55;MQ0=0;MQRankSum=-0.753;QD=15.71;ReadPosRankSum=0.395;SB=-817.83;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,57:97:99:1554,0,977:55:99:0.594 chr8 145001588 rs11136334 C T 1135.15 PASS BaseQRankSum=-0.108;DP=69;Dels=0.00;FS=10.648;HRun=0;HaplotypeScore=8.1593;MQ=57;MQ0=0;MQRankSum=0.222;QD=16.45;ReadPosRankSum=-0.426;SB=-449.55;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Missense_R1249Q,Missense_R1253Q,Missense_R1249Q,Missense_R1217Q,Missense_R1386Q,Missense_R1227Q,Missense_R1235Q,Missense_R1276Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,39:69:99:1165,0,812:57:99:0.582 chr8 145001784 rs3135109 A G 786.94 PASS BaseQRankSum=0.908;DP=110;Dels=0.00;FS=2.676;HRun=0;HaplotypeScore=6.3898;MQ=55;MQ0=0;MQRankSum=1.619;QD=7.15;ReadPosRankSum=-0.097;SB=-442.52;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_L1184L,Synonymous_L1188L,Synonymous_L1184L,Synonymous_L1152L,Synonymous_L1321L,Synonymous_L1162L,Synonymous_L1170L,Synonymous_L1211L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,38:110:99:817,0,1869:55:99:0.345 chr8 145004546 rs11780911 G A 1741.21 PASS DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=33.48;SB=-702.83;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:99:1774,132,0:58:99:1.000 chr8 145007187 rs11136336 G A 3599.52 PASS BaseQRankSum=2.033;DP=326;Dels=0.00;FS=1.866;HRun=0;HaplotypeScore=16.7497;MQ=57;MQ0=0;MQRankSum=-0.599;QD=11.04;ReadPosRankSum=-0.239;SB=-2354.58;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Missense_A504V,Missense_A508V,Missense_A504V,Missense_A472V,Missense_A641V,Missense_A482V,Missense_A490V,Missense_A531V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:165,160:326:99:3600,0,3955:57:99:0.492 chr8 145008560 rs11783799 A G 2586.56 PASS BaseQRankSum=2.193;DP=238;Dels=0.00;FS=2.914;HRun=0;HaplotypeScore=8.8586;MQ=55;MQ0=0;MQRankSum=-2.567;QD=10.87;ReadPosRankSum=-0.463;SB=-1818.59;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_D365D,Synonymous_D369D,Synonymous_D365D,Synonymous_D333D,Synonymous_D502D,Synonymous_D343D,Synonymous_D351D,Synonymous_D392D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,118:238:99:2617,0,3084:55:99:0.498 chr8 145011204 rs6993938 A G 585.73 PASS BaseQRankSum=0.590;DP=87;Dels=0.00;FS=0.924;HRun=1;HaplotypeScore=3.6611;MQ=55;MQ0=0;MQRankSum=1.893;QD=6.73;ReadPosRankSum=-0.304;SB=-246.92;TI=NM_201384,NM_201383,NM_201382,NM_201381,NM_201380,NM_201379,NM_201378,NM_000445;GI=PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC,PLEC;FC=Synonymous_A126A,Synonymous_A130A,Synonymous_A126A,Synonymous_A94A,Synonymous_A263A,Synonymous_A104A,Synonymous_A112A,Synonymous_A153A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,25:87:99:616,0,1650:55:99:0.291 chr8 145639726 rs2272662 T C 1278.84 PASS BaseQRankSum=1.835;DP=107;Dels=0.00;FS=0.727;HRun=0;HaplotypeScore=2.6548;MQ=50;MQ0=0;MQRankSum=1.960;QD=11.95;ReadPosRankSum=-1.318;SB=-820.69;TI=NM_017767,NM_130849;GI=SLC39A4,SLC39A4;FC=Missense_T332A,Missense_T357A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,53:107:99:1309,0,1180:50:99:0.495 chr8 145640237 . G A 1539.18 PASS BaseQRankSum=3.691;DP=153;Dels=0.00;FS=7.550;HRun=1;HaplotypeScore=10.1040;MQ=52;MQ0=0;MQRankSum=3.586;QD=10.06;ReadPosRankSum=3.195;SB=-600.12;TI=NM_017767,NM_130849;GI=SLC39A4,SLC39A4;FC=Missense_S258L,Missense_S283L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,61:153:99:1569,0,2148:52:99:0.401 chr8 145640411 rs2977838 A G 5807.05 PASS DP=190;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.6889;MQ=56;MQ0=0;QD=30.56;SB=-3357.24;TI=NM_017767,NM_130849;GI=SLC39A4,SLC39A4;FC=Missense_W226R,Missense_W251R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,190:190:99:5807,421,0:56:99:1.000 chr8 145701136 . C A 5.92 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.736;QD=1.97;ReadPosRankSum=0.736;SB=-0.01;TI=NM_003923;GI=FOXH1;FC=Missense_G2W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:34.63:35,0,35:60:6:0.333 chr8 145737636 rs4925828 A G 3783.33 PASS DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0619;MQ=52;MQ0=0;QD=27.02;SB=-2528.98;TI=NM_004260;GI=RECQL4;FC=Missense_L1043P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,140:140:99:3783,274,0:52:99:1.000 chr8 145738767 rs11362176 CG C 7255.55 PASS DP=174;FS=0.000;HRun=2;HaplotypeScore=209.5413;MQ=50;MQ0=0;QD=41.70;SB=-3593.71;TI=NM_004260;GI=RECQL4;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,171:174:99:7256,518,0:50:99:0.994 chr8 145742514 rs2721190 A G 3067.72 PASS BaseQRankSum=1.672;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5707;MQ=52;MQ0=0;MQRankSum=1.583;QD=26.45;ReadPosRankSum=1.195;SB=-2011.09;TI=NM_004260;GI=RECQL4;FC=Missense_S92P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,115:116:99:3101,226,0:52:99:0.991 chr9 271638 rs506121 C T 1152.94 PASS BaseQRankSum=-0.059;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=56;MQ0=0;MQRankSum=2.231;QD=13.89;ReadPosRankSum=-0.041;SB=-651.15;TI=NM_203447;GI=DOCK8;FC=Missense_A22V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,44:83:99:1183,0,940:56:99:0.530 chr9 286491 rs3209441 G A 625.83 PASS BaseQRankSum=0.793;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5630;MQ=52;MQ0=0;MQRankSum=0.631;QD=9.78;ReadPosRankSum=0.658;SB=-438.96;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Missense_D63N,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,31:64:99:656,0,729:52:99:0.484 chr9 289590 . CT C 2613.94 PASS BaseQRankSum=-0.217;DP=168;FS=1.999;HRun=7;HaplotypeScore=138.3416;MQ=54;MQ0=0;MQRankSum=0.248;QD=15.56;ReadPosRankSum=2.514;SB=-1127.23;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,87:168:99:2653,0,1898:54:99:0.518 chr9 312124 rs2039045 T C 883.33 PASS BaseQRankSum=0.331;DP=78;Dels=0.00;FS=3.256;HRun=0;HaplotypeScore=4.7871;MQ=55;MQ0=0;MQRankSum=1.197;QD=11.32;ReadPosRankSum=1.136;SB=-386.40;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_N233N,Synonymous_N165N,Synonymous_N165N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,38:78:99:913,0,856:55:99:0.494 chr9 312134 rs11789099 G A 669.95 PASS BaseQRankSum=-0.612;DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2310;MQ=57;MQ0=0;MQRankSum=2.273;QD=10.15;ReadPosRankSum=0.818;SB=-300.86;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Missense_E237K,Missense_E169K,Missense_E169K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,30:66:99:700,0,920:57:99:0.455 chr9 334337 rs10970979 A G 567.69 PASS BaseQRankSum=0.855;DP=42;Dels=0.00;FS=5.391;HRun=0;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=0.201;QD=13.52;ReadPosRankSum=0.755;SB=-79.88;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Missense_N413S,Missense_N345S,Missense_N345S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,21:42:99:598,0,556:59:99:0.500 chr9 370244 rs913703 A G 2674.42 PASS BaseQRankSum=1.661;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6650;MQ=52;MQ0=0;MQRankSum=1.626;QD=27.29;ReadPosRankSum=-1.661;SB=-1633.88;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_K604K,Synonymous_K536K,Synonymous_K536K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,97:98:99:2707,174,0:52:99:0.990 chr9 377111 rs10814431 G C 2269.26 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6812;MQ=53;MQ0=0;QD=27.34;SB=-1231.22;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_L780L,Synonymous_L712L,Synonymous_L712L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2302,166,0:53:99:1.000 chr9 390512 rs2297075 C T 2343.19 PASS DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=30.04;SB=-775.12;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_T972T,Synonymous_T904T,Synonymous_T872T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2376,178,0:54:99:1.000 chr9 429719 rs7854035 T C 2684.21 PASS BaseQRankSum=1.664;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=1.698;QD=26.58;ReadPosRankSum=0.532;SB=-1894.33;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_F1497F,Synonymous_F1429F,Synonymous_F1397F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,100:101:99:2717,193,0:54:99:0.990 chr9 432330 rs7036567 C G 692.01 PASS BaseQRankSum=-0.010;DP=48;Dels=0.00;FS=7.144;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-0.691;QD=14.42;ReadPosRankSum=-0.546;SB=-125.19;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,24:48:99:722,0,504:56:99:0.500 chr9 433978 rs2360712 A G 707.78 PASS BaseQRankSum=0.349;DP=50;Dels=0.00;FS=4.620;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=3.027;QD=14.16;ReadPosRankSum=0.504;SB=-160.46;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,25:50:99:738,0,603:56:99:0.500 chr9 441952 rs1887957 G A 3791.75 PASS BaseQRankSum=0.192;DP=280;Dels=0.00;FS=0.913;HRun=1;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=1.396;QD=13.54;ReadPosRankSum=-0.072;SB=-2150.52;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_E1811E,Synonymous_E1743E,Synonymous_E1711E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:135,145:280:99:3792,0,3186:56:99:0.518 chr9 712137 rs912175 G C 625.75 PASS BaseQRankSum=-0.986;DP=79;Dels=0.00;FS=8.698;HRun=1;HaplotypeScore=4.5761;MQ=57;MQ0=0;MQRankSum=0.986;QD=7.92;ReadPosRankSum=-1.498;SB=-151.73;TI=NM_015158,NM_153186;GI=KANK1,KANK1;FC=Synonymous_L457L,Synonymous_L299L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,24:79:99:656,0,1638:57:99:0.304 chr9 712156 rs912174 T G 611.39 PASS BaseQRankSum=0.075;DP=83;Dels=0.00;FS=6.590;HRun=0;HaplotypeScore=2.7502;MQ=57;MQ0=0;MQRankSum=0.899;QD=7.37;ReadPosRankSum=-0.678;SB=-209.48;TI=NM_015158,NM_153186;GI=KANK1,KANK1;FC=Missense_S464A,Missense_S306A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,24:83:99:641,0,1727:57:99:0.289 chr9 732536 rs34832656 T C 2200.73 PASS BaseQRankSum=0.169;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5711;MQ=54;MQ0=0;MQRankSum=0.598;QD=12.58;ReadPosRankSum=0.345;SB=-1256.72;TI=NM_015158,NM_153186;GI=KANK1,KANK1;FC=Missense_I1055T,Missense_I897T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,88:175:99:2231,0,2307:54:99:0.503 chr9 740901 rs2296049 C T 1258.63 PASS BaseQRankSum=1.310;DP=104;Dels=0.00;FS=1.603;HRun=2;HaplotypeScore=3.6717;MQ=51;MQ0=0;MQRankSum=-0.156;QD=12.10;ReadPosRankSum=0.388;SB=-886.18;TI=NM_015158,NM_153186;GI=KANK1,KANK1;FC=Synonymous_F1221F,Synonymous_F1063F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,57:104:99:1289,0,1029:51:99:0.553 chr9 742342 rs10733535 A G 4194.41 PASS DP=151;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.9645;MQ=55;MQ0=0;QD=27.78;SB=-2690.25;TI=NM_015158,NM_153186;GI=KANK1,KANK1;FC=Synonymous_G1278G,Synonymous_G1120G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,151:151:99:4194,304,0:55:99:1.000 chr9 841971 rs3739583 T A 620.10 PASS BaseQRankSum=2.693;DP=69;Dels=0.00;FS=2.102;HRun=0;HaplotypeScore=2.5584;MQ=56;MQ0=0;MQRankSum=0.987;QD=8.99;ReadPosRankSum=0.103;SB=-407.52;TI=NM_021951;GI=DMRT1;FC=Missense_S45T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,30:69:99:650,0,997:56:99:0.435 chr9 967981 rs279895 G C 2134.69 PASS BaseQRankSum=1.504;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6381;MQ=56;MQ0=0;MQRankSum=1.595;QD=28.09;ReadPosRankSum=-0.729;SB=-1143.51;TI=NM_021951;GI=DMRT1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,75:76:99:2168,139,0:56:99:0.987 chr9 2029018 rs10964468 G A 1348.99 PASS BaseQRankSum=-0.235;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=0.045;QD=14.99;ReadPosRankSum=0.449;SB=-816.87;TI=NM_139045,NM_003070;GI=SMARCA2,SMARCA2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,54:90:99:1379,0,943:55:99:0.600 chr9 2029199 rs10964471 G A 2439.95 PASS BaseQRankSum=3.018;DP=175;Dels=0.00;FS=5.514;HRun=1;HaplotypeScore=6.2991;MQ=53;MQ0=0;MQRankSum=1.849;QD=13.94;ReadPosRankSum=-1.295;SB=-1577.39;TI=NM_139045,NM_003070;GI=SMARCA2,SMARCA2;FC=Synonymous_T59T,Synonymous_T59T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,100:175:99:2470,0,1801:53:99:0.575 chr9 2039776 . ACAG A 2043.57 R8 BaseQRankSum=-0.364;DP=111;FS=3.501;HRun=0;HaplotypeScore=121.3383;MQ=60;MQ0=0;MQRankSum=0.894;QD=18.41;ReadPosRankSum=-0.843;SB=-563.92;TI=NM_139045,NM_003070;GI=SMARCA2,SMARCA2;FC=1AA_Deletion,1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,45:111:99:2083,0,1564:60:99:0.429 chr9 2651962 rs6145 G T 790.03 PASS BaseQRankSum=0.349;DP=65;Dels=0.00;FS=3.408;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=2.573;QD=12.15;ReadPosRankSum=-1.191;SB=-509.39;TI=NM_003383,NM_001018056;GI=VLDLR,VLDLR;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,35:65:99:820,0,783:54:99:0.538 chr9 2718534 rs12237048 C G 3425.66 PASS BaseQRankSum=0.724;DP=301;Dels=0.00;FS=3.886;HRun=0;HaplotypeScore=18.2540;MQ=56;MQ0=0;MQRankSum=1.816;QD=11.38;ReadPosRankSum=-0.216;SB=-2147.44;TI=NM_133497;GI=KCNV2;FC=Synonymous_A265A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:160,141:301:99:3426,0,3857:56:99:0.468 chr9 4118111 rs6415788 G T 334.37 LowDP DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5929;MQ=48;MQ0=0;QD=30.40;SB=-134.07;TI=NM_152629,NM_001042413;GI=GLIS3,GLIS3;FC=Missense_P301Q,Missense_P456Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,11:11:30.09:367,30,0:48:30:1.000 chr9 4118208 rs806052 A G 699.83 PASS DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=27.99;SB=-338.44;TI=NM_152629,NM_001042413;GI=GLIS3,GLIS3;FC=Missense_S269P,Missense_S424P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,25:25:54.17:733,54,0:57:54:1.000 chr9 4576680 rs301430 T C 1318.46 PASS BaseQRankSum=-0.205;DP=124;Dels=0.00;FS=0.675;HRun=1;HaplotypeScore=4.6817;MQ=49;MQ0=0;MQRankSum=-0.640;QD=10.63;ReadPosRankSum=-1.281;SB=-796.05;TI=NM_004170;GI=SLC1A1;FC=Synonymous_T370T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,59:124:99:1348,0,1518:49:99:0.476 chr9 5050706 rs10429491 C T 1135.22 PASS DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=27.69;SB=-747.32;TI=NM_004972;GI=JAK2;FC=Synonymous_H163H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:84.27:1168,84,0:51:84:1.000 chr9 5081780 rs2230724 G A 2436.51 PASS DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;QD=28.66;SB=-1594.36;TI=NM_004972;GI=JAK2;FC=Synonymous_L830L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2470,178,0:51:99:1.000 chr9 5720172 rs10758700 C G 511.15 PASS BaseQRankSum=1.062;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.196;QD=10.65;ReadPosRankSum=-2.134;SB=-371.95;TI=NM_001135920,NM_020829;GI=KIAA1432,KIAA1432;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,24:48:99:541,0,635:56:99:0.500 chr9 5732483 rs7850299 T C 643.47 PASS BaseQRankSum=1.780;DP=65;Dels=0.00;FS=5.141;HRun=0;HaplotypeScore=8.9135;MQ=54;MQ0=0;MQRankSum=1.268;QD=9.90;ReadPosRankSum=-0.121;SB=-316.30;TI=NM_001135920,NM_020829;GI=KIAA1432,KIAA1432;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,29:65:99:673,0,844:54:99:0.453 chr9 5738545 . C T 159.59 SB BaseQRankSum=-2.258;DP=45;Dels=0.07;FS=56.819;HRun=21;HaplotypeScore=85.3067;MQ=39;MQ0=0;MQRankSum=-1.668;QD=3.55;ReadPosRankSum=-3.409;SB=-2.98;TI=NM_001135920,NM_020829;GI=KIAA1432,KIAA1432;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,12:42:99:190,0,612:39:99:0.300 chr9 5738545 . CT C 91.47 LowVariantFreq;R8 BaseQRankSum=0.373;DP=45;FS=4.772;HRun=21;HaplotypeScore=307.8962;MQ=39;MQ0=0;MQRankSum=1.240;QD=2.03;ReadPosRankSum=0.036;SB=-48.30;TI=NM_001135920,NM_020829;GI=KIAA1432,KIAA1432;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,5:45:99:131,0,252:39:91:0.152 chr9 5762533 rs1543526 A C 1003.26 PASS BaseQRankSum=0.181;DP=78;Dels=0.00;FS=1.891;HRun=0;HaplotypeScore=2.6548;MQ=56;MQ0=0;MQRankSum=-0.010;QD=12.86;ReadPosRankSum=-0.723;SB=-660.88;TI=NM_001135920,NM_020829;GI=KIAA1432,KIAA1432;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,43:78:99:1033,0,772:56:99:0.551 chr9 5774225 rs3739648 T G 1876.62 PASS BaseQRankSum=-0.067;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=52;MQ0=0;MQRankSum=1.608;QD=11.58;ReadPosRankSum=0.174;SB=-1054.58;TI=NM_020829;GI=KIAA1432;FC=Synonymous_T1338T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,81:162:99:1907,0,1925:52:99:0.500 chr9 6984236 rs2296067 G A 1744.73 PASS BaseQRankSum=2.065;DP=128;Dels=0.00;FS=0.712;HRun=1;HaplotypeScore=11.1399;MQ=51;MQ0=0;MQRankSum=0.836;QD=13.63;ReadPosRankSum=-0.992;SB=-851.53;TI=NM_001146696,NM_001146695,NM_001146694,NM_015061;GI=KDM4C,KDM4C,KDM4C,KDM4C;FC=Missense_D418N,Missense_D396N,Missense_D396N,Missense_D396N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,73:128:99:1775,0,1311:51:99:0.575 chr9 7046901 rs1407856 C G 869.73 PASS BaseQRankSum=-1.333;DP=67;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=1.8606;MQ=57;MQ0=0;MQRankSum=-0.112;QD=12.98;ReadPosRankSum=-0.243;SB=-444.99;TI=NM_001146696,NM_001146695,NM_001146694,NM_015061;GI=KDM4C,KDM4C,KDM4C,KDM4C;FC=Missense_Q789E,Missense_Q767E,Missense_Q767E,Missense_Q767E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,34:66:99:900,0,772:57:99:0.523 chr9 7170006 rs7022348 G A 1059.84 PASS BaseQRankSum=0.015;DP=78;Dels=0.01;FS=0.880;HRun=7;HaplotypeScore=7.6156;MQ=58;MQ0=0;MQRankSum=0.494;QD=13.59;ReadPosRankSum=-0.382;SB=-510.30;TI=NM_001146694,NM_015061;GI=KDM4C,KDM4C;FC=Missense_S1037N,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,39:77:99:1090,0,1033:58:99:0.506 chr9 13112116 rs10809904 A G 5594.73 PASS BaseQRankSum=1.682;DP=207;Dels=0.00;FS=3.527;HRun=0;HaplotypeScore=5.6684;MQ=55;MQ0=0;MQRankSum=1.699;QD=27.03;ReadPosRankSum=0.628;SB=-3541.12;TI=NM_003829;GI=MPDZ;FC=Synonymous_I1848I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,206:207:99:5595,379,0:55:99:0.995 chr9 13206106 . TA T 55.03 LowVariantFreq;R8 BaseQRankSum=0.241;DP=46;FS=2.791;HRun=14;HaplotypeScore=212.3379;MQ=52;MQ0=0;MQRankSum=0.675;QD=1.20;ReadPosRankSum=-1.326;SB=-32.49;TI=NM_003829;GI=MPDZ;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,7:46:94.06:94,0,576:52:55:0.189 chr9 14722477 rs3747532 G C 2885.77 PASS BaseQRankSum=2.236;DP=199;Dels=0.00;FS=0.536;HRun=1;HaplotypeScore=7.5755;MQ=55;MQ0=0;MQRankSum=1.874;QD=14.50;ReadPosRankSum=-1.331;SB=-1443.11;TI=NM_005454;GI=CER1;FC=Missense_A65G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,106:199:99:2916,0,2451:55:99:0.533 chr9 14737506 rs10961689 T G 946.56 PASS BaseQRankSum=-0.187;DP=91;Dels=0.00;FS=0.779;HRun=1;HaplotypeScore=1.7608;MQ=53;MQ0=0;MQRankSum=1.997;QD=10.40;ReadPosRankSum=0.210;SB=-645.51;TI=NM_001177704,NM_144966;GI=FREM1,FREM1;FC=Missense_Q679P,Missense_Q2143P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,44:91:99:977,0,1185:53:99:0.484 chr9 14747412 rs4741426 A G 1065.81 PASS BaseQRankSum=3.292;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9046;MQ=53;MQ0=0;MQRankSum=0.797;QD=12.11;ReadPosRankSum=0.096;SB=-714.16;TI=NM_001177704,NM_144966;GI=FREM1,FREM1;FC=Synonymous_V489V,Synonymous_V1953V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,44:88:99:1096,0,1007:53:99:0.500 chr9 14775779 rs1874108 A G 35.81 LowDP BaseQRankSum=-0.925;DP=13;Dels=0.00;FS=6.532;HRun=0;HaplotypeScore=14.2531;MQ=54;MQ0=0;MQRankSum=1.479;QD=2.75;ReadPosRankSum=-2.589;SB=-17.82;TI=NM_001177704,NM_144966;GI=FREM1,FREM1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,3:13:65.80:66,0,254:54:36:0.250 chr9 14775853 rs1032474 A G 2234.86 PASS DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9995;MQ=52;MQ0=0;QD=27.94;SB=-1205.35;TI=NM_001177704,NM_144966;GI=FREM1,FREM1;FC=Synonymous_D133D,Synonymous_D1597D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2268,163,0:52:99:1.000 chr9 14784389 rs41265306 G A 717.92 PASS BaseQRankSum=-0.295;DP=58;Dels=0.00;FS=3.667;HRun=1;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=-0.233;QD=12.38;ReadPosRankSum=-0.607;SB=-400.19;TI=NM_144966;GI=FREM1;FC=Missense_T1474I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,29:58:99:748,0,715:59:99:0.500 chr9 14801738 rs16932300 G C 1714.46 PASS BaseQRankSum=1.007;DP=144;Dels=0.00;FS=1.318;HRun=1;HaplotypeScore=5.3097;MQ=55;MQ0=0;MQRankSum=3.757;QD=11.91;ReadPosRankSum=2.344;SB=-1325.44;TI=NM_144966;GI=FREM1;FC=Missense_S1202R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,81:144:99:1744,0,1515:55:99:0.563 chr9 14842557 rs1353223 T C 3652.08 PASS DP=131;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=27.88;SB=-2215.41;TI=NM_144966;GI=FREM1;FC=Missense_I499V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3652,268,0:57:99:1.000 chr9 19576949 rs2383101 T G 3662.12 PASS BaseQRankSum=2.267;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.6355;MQ=55;MQ0=0;MQRankSum=0.213;QD=30.02;ReadPosRankSum=0.823;SB=-1546.24;TI=NM_020344,NM_001193288;GI=SLC24A2,SLC24A2;FC=Synonymous_R401R,Synonymous_R384R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,119:122:99:3662,274,0:55:99:0.983 chr9 19622268 rs4977308 T C 1370.71 PASS BaseQRankSum=-0.987;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6272;MQ=56;MQ0=0;MQRankSum=0.513;QD=12.69;ReadPosRankSum=-0.679;SB=-761.14;TI=NM_020344,NM_001193288;GI=SLC24A2,SLC24A2;FC=Synonymous_P320P,Synonymous_P320P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,56:108:99:1401,0,1219:56:99:0.519 chr9 20354796 rs2301550 A G 905.21 PASS BaseQRankSum=0.776;DP=82;Dels=0.00;FS=0.825;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=1.846;QD=11.04;ReadPosRankSum=-0.367;SB=-569.28;TI=NM_004529;GI=MLLT3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,38:82:99:935,0,1041:52:99:0.463 chr9 20414376 rs1761445 A G 1641.18 PASS BaseQRankSum=2.073;DP=128;Dels=0.04;FS=2.807;HRun=0;HaplotypeScore=36.7865;MQ=56;MQ0=0;MQRankSum=0.797;QD=12.82;ReadPosRankSum=0.246;SB=-537.63;TI=NM_004529;GI=MLLT3;FC=Synonymous_S156S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,59:123:99:1671,0,1816:56:99:0.480 chr9 21206605 rs28368148 C G 792.21 PASS BaseQRankSum=0.069;DP=68;Dels=0.00;FS=2.021;HRun=0;HaplotypeScore=4.7674;MQ=55;MQ0=0;MQRankSum=1.776;QD=11.65;ReadPosRankSum=-0.559;SB=-514.41;TI=NM_002171;GI=IFNA10;FC=Missense_W164C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,32:68:99:822,0,928:55:99:0.478 chr9 21206743 rs28368147 G T 853.65 PASS BaseQRankSum=3.024;DP=125;Dels=0.00;FS=5.694;HRun=1;HaplotypeScore=1.7882;MQ=30;MQ0=29;MQRankSum=-4.753;QD=6.83;ReadPosRankSum=2.722;SB=-312.70;TI=NM_002171;GI=IFNA10;FC=Missense_D118E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,51:125:99:884,0,1310:30:99:0.408 chr9 21206916 rs28368145 T A 1944.61 PASS BaseQRankSum=1.922;DP=167;Dels=0.00;FS=5.875;HRun=1;HaplotypeScore=5.3371;MQ=44;MQ0=1;MQRankSum=-8.662;QD=11.64;ReadPosRankSum=0.007;SB=-1078.15;TI=NM_002171;GI=IFNA10;FC=Missense_I61F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,96:167:99:1975,0,1742:44:99:0.575 chr9 21206919 rs1062568;rs17840693;rs28368144 G C 1924.80 PASS BaseQRankSum=1.936;DP=164;Dels=0.00;FS=7.232;HRun=1;HaplotypeScore=4.4430;MQ=44;MQ0=1;MQRankSum=-8.511;QD=11.74;ReadPosRankSum=0.491;SB=-993.11;TI=NM_002171;GI=IFNA10;FC=Missense_R60G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,94:164:99:1955,0,1708:44:99:0.573 chr9 21207000 rs10113875 C G 1612.78 PASS BaseQRankSum=-0.310;DP=130;Dels=0.00;FS=2.633;HRun=0;HaplotypeScore=1.7882;MQ=45;MQ0=1;MQRankSum=-7.246;QD=12.41;ReadPosRankSum=-2.005;SB=-474.64;TI=NM_002171;GI=IFNA10;FC=Missense_G33R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,72:130:99:1643,0,1552:45:99:0.554 chr9 21207005 rs10113876;rs77265003 C G 1162.24 PASS BaseQRankSum=-0.149;DP=104;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=45;MQ0=1;MQRankSum=-6.481;QD=11.18;ReadPosRankSum=-2.090;SB=-387.71;TI=NM_002171;GI=IFNA10;FC=Missense_S31T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,55:104:99:1192,0,1316:45:99:0.529 chr9 21207031 rs10117060;rs78792716 T C 203.24 PASS BaseQRankSum=-0.797;DP=54;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=50;MQ0=1;MQRankSum=-4.610;QD=3.76;ReadPosRankSum=0.373;SB=-33.60;TI=NM_002171;GI=IFNA10;FC=Synonymous_L22L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,15:54:99:233,0,1193:50:99:0.278 chr9 21207037 rs10119910;rs76656219 A T 327.11 PASS BaseQRankSum=-2.316;DP=58;Dels=0.00;FS=3.285;HRun=0;HaplotypeScore=0.0000;MQ=48;MQ0=1;MQRankSum=-5.092;QD=5.64;ReadPosRankSum=-1.898;SB=-18.29;TI=NM_002171;GI=IFNA10;FC=Nonsense_C20X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,21:58:99:357,0,1098:48:99:0.362 chr9 21227622 rs3203582;rs9298814 A C 593.70 PASS BaseQRankSum=2.091;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=47;MQ0=1;MQRankSum=-5.667;QD=10.99;ReadPosRankSum=0.543;SB=-109.54;TI=NM_021268;GI=IFNA17;FC=Missense_I184R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,27:54:99:624,0,770:47:99:0.500 chr9 21227651 rs7025879 A G 612.74 PASS BaseQRankSum=0.977;DP=75;Dels=0.00;FS=1.042;HRun=1;HaplotypeScore=1.7882;MQ=48;MQ0=4;MQRankSum=-6.264;QD=8.17;ReadPosRankSum=1.784;SB=-172.19;TI=NM_021268;GI=IFNA17;FC=Synonymous_S174S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,33:75:99:643,0,1095:48:99:0.440 chr9 21228002 . A AT 3884.89 PASS BaseQRankSum=0.753;DP=216;FS=0.497;HRun=1;HaplotypeScore=192.5756;MQ=55;MQ0=0;MQRankSum=2.768;QD=17.99;ReadPosRankSum=-0.673;SB=-1915.49;TI=NM_021268;GI=IFNA17;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,107:216:99:3885,0,3963:55:99:0.495 chr9 21333254 rs41270133 T C 861.11 PASS BaseQRankSum=1.866;DP=83;Dels=0.00;FS=1.860;HRun=0;HaplotypeScore=5.5129;MQ=58;MQ0=0;MQRankSum=1.310;QD=10.37;ReadPosRankSum=-0.144;SB=-534.73;TI=NM_018847;GI=KLHL9;FC=Synonymous_Q535Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,34:83:99:891,0,1505:58:99:0.410 chr9 21816758 rs7023954 G A 1418.20 PASS BaseQRankSum=1.449;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=54;MQ0=0;MQRankSum=0.194;QD=11.92;ReadPosRankSum=-0.891;SB=-815.54;TI=NM_002451;GI=MTAP;FC=Missense_V56I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,58:119:99:1448,0,1489:54:99:0.487 chr9 22029445 rs10965215 G A 2378.52 PASS BaseQRankSum=1.713;DP=199;Dels=0.00;FS=1.108;HRun=1;HaplotypeScore=4.5711;MQ=56;MQ0=0;MQRankSum=0.524;QD=11.95;ReadPosRankSum=1.496;SB=-1565.27;TI=NR_003529;GI=CDKN2B-AS1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,99:199:99:2409,0,2449:56:99:0.503 chr9 22029547 rs564398 T C 2574.74 PASS BaseQRankSum=0.284;DP=214;Dels=0.00;FS=5.872;HRun=0;HaplotypeScore=9.1523;MQ=50;MQ0=0;MQRankSum=0.762;QD=12.03;ReadPosRankSum=-0.670;SB=-1439.74;TI=NR_003529;GI=CDKN2B-AS1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,105:214:99:2605,0,2868:50:99:0.493 chr9 22049130 rs10738605 C G 2255.64 PASS BaseQRankSum=-1.132;DP=154;Dels=0.00;FS=3.934;HRun=1;HaplotypeScore=6.5628;MQ=52;MQ0=0;MQRankSum=0.467;QD=14.65;ReadPosRankSum=-1.422;SB=-1270.41;TI=NR_003529;GI=CDKN2B-AS1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,91:154:99:2286,0,1394:52:99:0.591 chr9 22056295 rs7853090 T C 1199.65 PASS BaseQRankSum=1.318;DP=75;Dels=0.00;FS=0.995;HRun=1;HaplotypeScore=4.6358;MQ=56;MQ0=0;MQRankSum=0.678;QD=16.00;ReadPosRankSum=0.454;SB=-429.18;TI=NR_003529;GI=CDKN2B-AS1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,42:75:99:1230,0,823:56:99:0.560 chr9 22056359 rs7866783 A G 2507.53 PASS BaseQRankSum=0.282;DP=169;Dels=0.00;FS=1.409;HRun=0;HaplotypeScore=6.4961;MQ=55;MQ0=0;MQRankSum=1.720;QD=14.84;ReadPosRankSum=2.550;SB=-762.62;TI=NR_003529;GI=CDKN2B-AS1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,91:169:99:2538,0,2152:55:99:0.538 chr9 22065657 rs1333039 G C 1109.54 PASS BaseQRankSum=1.368;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3407;MQ=53;MQ0=0;MQRankSum=-0.239;QD=9.82;ReadPosRankSum=-0.579;SB=-728.73;TI=NR_003529;GI=CDKN2B-AS1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,52:113:99:1140,0,1406:53:99:0.460 chr9 22066363 rs4977755 T A 546.73 PASS BaseQRankSum=0.820;DP=61;Dels=0.00;FS=3.505;HRun=2;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=-3.013;QD=8.96;ReadPosRankSum=-1.808;SB=-347.99;TI=NR_003529;GI=CDKN2B-AS1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,27:61:99:577,0,781:54:99:0.443 chr9 22120786 . TATC T 8990.29 R8 DP=213;FS=0.000;HRun=0;HaplotypeScore=124.4747;MQ=56;MQ0=0;QD=42.21;SB=-3319.24;TI=NR_003529;GI=CDKN2B-AS1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:39,168:213:99:8990,544,0:56:99:0.812 chr9 27183463 rs682632 A C 2599.18 PASS DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=28.88;SB=-1453.48;TI=NM_000459;GI=TEK;FC=Missense_Q346P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2632,190,0:55:99:1.000 chr9 27202870 rs639225 A G 1114.48 PASS BaseQRankSum=0.105;DP=114;Dels=0.00;FS=0.721;HRun=1;HaplotypeScore=2.8097;MQ=53;MQ0=0;MQRankSum=0.435;QD=9.78;ReadPosRankSum=0.668;SB=-713.95;TI=NM_000459;GI=TEK;FC=Synonymous_S654S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,52:114:99:1144,0,1500:53:99:0.456 chr9 27205021 rs542913 G A 1122.33 PASS BaseQRankSum=-0.126;DP=101;Dels=0.00;FS=0.744;HRun=0;HaplotypeScore=3.5764;MQ=48;MQ0=0;MQRankSum=-1.381;QD=11.11;ReadPosRankSum=0.658;SB=-879.61;TI=NM_000459;GI=TEK;FC=Synonymous_R774R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,55:101:99:1152,0,1077:48:99:0.545 chr9 27213580 rs3737188 T C 922.26 PASS BaseQRankSum=0.389;DP=72;Dels=0.00;FS=6.449;HRun=0;HaplotypeScore=1.7608;MQ=56;MQ0=0;MQRankSum=-0.186;QD=12.81;ReadPosRankSum=-1.380;SB=-352.69;TI=NM_000459;GI=TEK;FC=Synonymous_Y992Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,36:72:99:952,0,916:56:99:0.500 chr9 27548431 . T A 95.95 SB BaseQRankSum=-1.144;DP=28;Dels=0.00;FS=41.590;HRun=2;HaplotypeScore=37.5494;MQ=39;MQ0=0;MQRankSum=-0.992;QD=3.43;ReadPosRankSum=-0.788;SB=0.04;TI=NM_018325;GI=C9orf72;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,8:28:99:126,0,505:39:96:0.286 chr9 32459450 rs3205166 T G 1641.03 PASS BaseQRankSum=2.387;DP=136;Dels=0.00;FS=0.639;HRun=2;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=3.365;QD=12.07;ReadPosRankSum=-0.362;SB=-1086.59;TI=NM_014314;GI=DDX58;FC=Synonymous_V800V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,73:136:99:1671,0,1358:53:99:0.537 chr9 32481500 . TA T 216.73 LowVariantFreq;R8 BaseQRankSum=-0.382;DP=147;FS=0.000;HRun=16;HaplotypeScore=570.4224;MQ=52;MQ0=0;MQRankSum=-0.112;QD=1.47;ReadPosRankSum=0.137;SB=-115.05;TI=NM_014314;GI=DDX58;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,23:147:99:256,0,1441:52:99:0.181 chr9 32485288 . C CA 1214.36 R8 BaseQRankSum=0.485;DP=75;FS=4.555;HRun=10;HaplotypeScore=178.8064;MQ=58;MQ0=0;MQRankSum=-1.679;QD=16.19;ReadPosRankSum=-0.470;SB=-429.11;TI=NM_014314;GI=DDX58;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,51:75:99:1253,0,179:58:99:0.729 chr9 32526146 rs10813831 G A 4344.70 PASS DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=52;MQ0=0;QD=28.96;SB=-2839.32;TI=NM_014314;GI=DDX58;FC=Missense_R7C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:4345,316,0:52:99:1.000 chr9 32541532 rs12348918 A G 6694.72 PASS BaseQRankSum=-0.823;DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5652;MQ=57;MQ0=0;MQRankSum=0.415;QD=30.29;ReadPosRankSum=1.105;SB=-2537.11;TI=NM_001195622,NM_005802;GI=TOPORS,TOPORS;FC=Synonymous_D932D,Synonymous_D997D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,220:221:99:6695,456,0:57:99:0.995 chr9 32974570 rs77633526 G GA 2253.05 R8 DP=83;FS=0.000;HRun=9;HaplotypeScore=77.1719;MQ=59;MQ0=0;QD=27.15;SB=-962.71;TI=NR_036579,NM_001195249,NR_036578,NM_001195254,NM_001195252,NR_036576,NR_036577,NM_001195251,NM_001195250,NM_175069,NM_001195248,NM_175073;GI=APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX,APTX;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:83:99:2295,242,0:59:99:1.000 chr9 33385235 . T G 130.95 SB BaseQRankSum=1.646;DP=155;Dels=0.00;FS=36.136;HRun=0;HaplotypeScore=4.4976;MQ=50;MQ0=16;MQRankSum=-5.679;QD=0.84;ReadPosRankSum=-0.221;SB=-0.01;TI=NM_001170;GI=AQP7;FC=Missense_Y266S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,31:155:99:161,0,3441:50:99:0.200 chr9 33385287 rs74557595 T C 843.08 PASS BaseQRankSum=0.999;DP=189;Dels=0.00;FS=0.747;HRun=0;HaplotypeScore=6.5805;MQ=47;MQ0=15;MQRankSum=-8.475;QD=4.46;ReadPosRankSum=-1.674;SB=-455.13;TI=NM_001170;GI=AQP7;FC=Missense_N249D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,65:189:99:873,0,3205:47:99:0.344 chr9 33386064 rs76143126 C G 41.99 LowVariantFreq;SB BaseQRankSum=-1.230;DP=115;Dels=0.00;FS=1.594;HRun=1;HaplotypeScore=6.4246;MQ=52;MQ0=0;MQRankSum=-4.725;QD=0.37;ReadPosRankSum=1.002;SB=-0.01;TI=NM_001170;GI=AQP7;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,12:115:71.99:72,0,2763:52:42:0.104 chr9 33386144 rs76209395 G A 16.62 LowVariantFreq;SB BaseQRankSum=1.606;DP=155;Dels=0.01;FS=1.429;HRun=1;HaplotypeScore=15.8759;MQ=51;MQ0=0;MQRankSum=-6.005;QD=0.11;ReadPosRankSum=-0.984;SB=-0.01;TI=NM_001170;GI=AQP7;FC=Synonymous_V152V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:140,14:154:46.52:47,0,3634:51:17:0.091 chr9 33386395 rs2484931 T C 2403.91 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3092;MQ=50;MQ0=0;QD=27.01;SB=-1486.92;TI=NM_001170;GI=AQP7;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2437,186,0:50:99:1.000 chr9 33386430 rs74589499 C T 44.80 LowVariantFreq;SB BaseQRankSum=2.490;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3095;MQ=46;MQ0=5;MQRankSum=-7.400;QD=0.30;ReadPosRankSum=-1.069;SB=-3.99;TI=NM_001170;GI=AQP7;FC=Synonymous_A126A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,29:149:74.79:75,0,2999:46:45:0.195 chr9 33386465 rs74668961 A G 703.46 PASS BaseQRankSum=2.484;DP=217;Dels=0.00;FS=5.983;HRun=1;HaplotypeScore=9.2348;MQ=45;MQ0=8;MQRankSum=-9.552;QD=3.24;ReadPosRankSum=-4.179;SB=-203.28;TI=NM_001170;GI=AQP7;FC=Missense_Y115H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:153,63:217:99:733,0,3681:45:99:0.292 chr9 33386469 rs78695486 C T 715.99 PASS BaseQRankSum=2.604;DP=215;Dels=0.00;FS=7.500;HRun=0;HaplotypeScore=10.1289;MQ=45;MQ0=8;MQRankSum=-9.139;QD=3.33;ReadPosRankSum=-3.690;SB=-179.58;TI=NM_001170;GI=AQP7;FC=Synonymous_P113P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:153,62:215:99:746,0,3700:45:99:0.288 chr9 33386510 rs77962308 C T 818.71 PASS BaseQRankSum=2.820;DP=192;Dels=0.00;FS=2.479;HRun=0;HaplotypeScore=8.8515;MQ=47;MQ0=7;MQRankSum=-8.122;QD=4.26;ReadPosRankSum=1.816;SB=-414.25;TI=NM_001170;GI=AQP7;FC=Missense_A100T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,69:192:99:849,0,2899:47:99:0.359 chr9 33386511 rs72707424 A G 807.31 PASS BaseQRankSum=1.076;DP=192;Dels=0.00;FS=2.519;HRun=0;HaplotypeScore=7.9574;MQ=47;MQ0=7;MQRankSum=-8.427;QD=4.20;ReadPosRankSum=2.406;SB=-388.38;TI=NM_001170;GI=AQP7;FC=Synonymous_F99F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,70:192:99:837,0,2954:47:99:0.365 chr9 33386526 rs79202054 G A 844.76 PASS BaseQRankSum=1.570;DP=156;Dels=0.00;FS=2.684;HRun=0;HaplotypeScore=4.3811;MQ=48;MQ0=6;MQRankSum=-8.268;QD=5.42;ReadPosRankSum=1.773;SB=-422.94;TI=NM_001170;GI=AQP7;FC=Synonymous_N94N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,68:156:99:875,0,2151:48:99:0.436 chr9 33395196 rs642636 A G 2818.88 PASS DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0879;MQ=53;MQ0=0;QD=27.10;SB=-1604.12;TI=NM_001170;GI=AQP7;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:104:99:2852,208,0:53:99:1.000 chr9 33442952 rs2228332 G A 3676.44 PASS DP=133;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4914;MQ=57;MQ0=0;QD=27.64;SB=-2540.10;TI=NM_004925;GI=AQP3;FC=Synonymous_F130F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:3676,265,0:57:99:1.000 chr9 33447424 rs591810 C G 1467.52 PASS DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=54;MQ0=0;QD=27.18;SB=-851.08;TI=NM_004925;GI=AQP3;FC=Synonymous_L35L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1501,111,0:54:99:1.000 chr9 34660864 rs11575580 C T 1477.92 PASS BaseQRankSum=-1.505;DP=115;Dels=0.00;FS=1.504;HRun=0;HaplotypeScore=7.3089;MQ=54;MQ0=0;MQRankSum=-1.105;QD=12.85;ReadPosRankSum=0.006;SB=-1040.02;TI=NM_001142784,NM_004512;GI=IL11RA,IL11RA;FC=Missense_R395W,Missense_R395W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,65:115:99:1508,0,1206:54:99:0.570 chr9 35060302 rs684562 T C 1118.19 PASS DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=30.22;SB=-282.56;TI=NM_007126;GI=VCP;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,37:37:84.28:1151,84,0:58:84:1.000 chr9 35061693 rs11272867 G GACAGTACACAA 4325.97 PASS DP=97;FS=0.000;HRun=0;HaplotypeScore=41.9999;MQ=48;MQ0=0;QD=44.60;SB=-1571.33;TI=NM_007126;GI=VCP;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:55,42:97:99:4326,129,0:48:99:0.433 chr9 35062972 rs514492 C T 3668.50 PASS DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9867;MQ=53;MQ0=0;QD=26.78;SB=-2706.02;TI=NM_007126;GI=VCP;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:3668,259,0:53:99:1.000 chr9 35074917 rs587118 T C 3121.13 PASS BaseQRankSum=1.581;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2566;MQ=53;MQ0=0;MQRankSum=1.672;QD=27.14;ReadPosRankSum=-1.371;SB=-1593.20;TI=NM_004629;GI=FANCG;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,114:115:99:3154,209,0:53:99:0.991 chr9 35075737 . G C 386.09 PASS BaseQRankSum=0.936;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.5948;MQ=50;MQ0=0;MQRankSum=0.549;QD=15.44;ReadPosRankSum=0.420;SB=-202.60;TI=NM_004629;GI=FANCG;FC=Synonymous_P386P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,15:25:99:416,0,165:50:99:0.652 chr9 35093020 rs568300 T C 3529.26 PASS BaseQRankSum=-2.040;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5487;MQ=55;MQ0=0;MQRankSum=1.691;QD=29.17;ReadPosRankSum=-1.978;SB=-1456.05;TI=NM_032634,NM_152850;GI=PIGO,PIGO;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,118:121:99:3529,223,0:55:99:0.983 chr9 35657838 rs7021642 G A 596.76 PASS BaseQRankSum=-0.372;DP=54;Dels=0.00;FS=5.636;HRun=0;HaplotypeScore=0.8667;MQ=55;MQ0=0;MQRankSum=-0.095;QD=11.05;ReadPosRankSum=-0.736;SB=-388.75;TI=NR_003051;GI=RMRP;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,26:54:99:627,0,777:55:99:0.481 chr9 35657859 rs7021463 C G 889.73 PASS BaseQRankSum=2.286;DP=90;Dels=0.00;FS=0.802;HRun=1;HaplotypeScore=11.0176;MQ=53;MQ0=0;MQRankSum=-0.824;QD=9.89;ReadPosRankSum=0.459;SB=-576.39;TI=NR_003051;GI=RMRP;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,40:90:99:920,0,1258:53:99:0.444 chr9 35658020 rs7024732 C T 172.69 PASS BaseQRankSum=0.249;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=59;MQ0=0;MQRankSum=1.386;QD=8.22;ReadPosRankSum=-0.959;SB=-66.25 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,9:21:99:203,0,363:59:99:0.429 chr9 35792423 rs2228580 T C 3.53 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.736;QD=1.18;ReadPosRankSum=0.736;SB=-0.01;TI=NM_003995;GI=NPR2;FC=Synonymous_L6L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:30.98:31,0,69:60:4:0.333 chr9 35802583 rs5812 C T 849.68 PASS BaseQRankSum=-0.331;DP=85;Dels=0.00;FS=0.877;HRun=1;HaplotypeScore=2.9920;MQ=57;MQ0=0;MQRankSum=2.272;QD=10.00;ReadPosRankSum=1.964;SB=-336.68;TI=NM_003995;GI=NPR2;FC=Synonymous_Y598Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,32:85:99:880,0,1608:57:99:0.376 chr9 36840623 rs3780135 G A 3350.56 PASS DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4430;MQ=57;MQ0=0;QD=28.64;SB=-2172.24;TI=NM_016734;GI=PAX5;FC=Synonymous_Y370Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,117:117:99:3351,247,0:57:99:1.000 chr9 37020622 rs2297105 A C 668.13 PASS BaseQRankSum=-0.291;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6820;MQ=57;MQ0=0;MQRankSum=0.231;QD=11.14;ReadPosRankSum=0.321;SB=-155.67;TI=NM_016734;GI=PAX5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,26:60:99:698,0,976:57:99:0.433 chr9 37426524 rs2736664 C T 2668.66 PASS DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=53;MQ0=0;QD=29.33;SB=-1386.23;TI=NM_012203;GI=GRHPR;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2702,196,0:53:99:1.000 chr9 37429814 rs309458 A G 1529.62 PASS DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=29.42;SB=-792.96;TI=NM_012203;GI=GRHPR;FC=Synonymous_A193A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:99:1563,114,0:58:99:1.000 chr9 37521777 rs35979885 G A 3590.46 PASS BaseQRankSum=1.237;DP=131;Dels=0.00;FS=6.114;HRun=0;HaplotypeScore=5.5660;MQ=53;MQ0=0;MQRankSum=-0.274;QD=27.41;ReadPosRankSum=-1.291;SB=-2293.59;TI=NM_012166;GI=FBXO10;FC=Synonymous_N663N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,127:131:99:3590,171,0:53:99:0.969 chr9 37537557 rs7044153 G A 6205.05 PASS DP=206;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0682;MQ=57;MQ0=0;QD=30.12;SB=-3667.29;TI=NM_012166;GI=FBXO10;FC=Synonymous_A323A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,205:206:99:6205,454,0:57:99:1.000 chr9 71650752 rs2481598 A G 1490.64 PASS DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5887;MQ=52;MQ0=0;QD=25.70;SB=-960.33;TI=NM_000144,NM_181425,NM_001161706;GI=FXN,FXN,FXN;FC=Synonymous_P18P,Synonymous_P18P,Synonymous_P18P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1524,108,0:52:99:1.000 chr9 71841018 rs17062695 A G 652.57 PASS BaseQRankSum=0.880;DP=51;Dels=0.00;FS=2.447;HRun=1;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=-2.300;QD=12.80;ReadPosRankSum=-0.293;SB=-408.19;TI=NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416;GI=TJP2,TJP2,TJP2,TJP2,TJP2,TJP2;FC=Synonymous_L356L,Synonymous_L379L,Synonymous_L379L,Synonymous_L379L,Synonymous_L383L,Synonymous_L410L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,28:51:99:683,0,439:51:99:0.549 chr9 71843023 rs2309428 C A 829.83 PASS BaseQRankSum=-0.044;DP=56;Dels=0.02;FS=0.000;HRun=1;HaplotypeScore=4.5154;MQ=54;MQ0=0;MQRankSum=-0.858;QD=14.82;ReadPosRankSum=-0.416;SB=-422.38;TI=NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416;GI=TJP2,TJP2,TJP2,TJP2,TJP2,TJP2;FC=Missense_D459E,Missense_D482E,Missense_D482E,Missense_D482E,Missense_D486E,Missense_D513E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,36:55:99:860,0,484:54:99:0.655 chr9 71862975 rs2282336 C T 536.76 PASS BaseQRankSum=-0.284;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=54;MQ0=0;MQRankSum=2.162;QD=15.79;ReadPosRankSum=0.815;SB=-308.33;TI=NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416;GI=TJP2,TJP2,TJP2,TJP2,TJP2,TJP2;FC=Synonymous_T882T,Synonymous_T905T,Synonymous_T905T,Synonymous_T905T,Synonymous_T909T,Synonymous_T936T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,21:34:99:567,0,301:54:99:0.618 chr9 71862987 rs2095876 G A 555.16 PASS BaseQRankSum=1.131;DP=42;Dels=0.00;FS=1.222;HRun=0;HaplotypeScore=0.8667;MQ=53;MQ0=0;MQRankSum=1.487;QD=13.22;ReadPosRankSum=0.979;SB=-380.49;TI=NM_001170414,NM_001170630,NM_004817,NM_201629,NM_001170415,NM_001170416;GI=TJP2,TJP2,TJP2,TJP2,TJP2,TJP2;FC=Synonymous_A886A,Synonymous_A909A,Synonymous_A909A,Synonymous_A909A,Synonymous_A913A,Synonymous_A940A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,24:42:99:585,0,385:53:99:0.571 chr9 71865988 rs41277907 C T 961.38 PASS BaseQRankSum=2.041;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7878;MQ=54;MQ0=0;MQRankSum=0.993;QD=10.92;ReadPosRankSum=1.270;SB=-573.17;TI=NM_001170414,NM_004817,NM_201629,NM_001170415,NM_001170416;GI=TJP2,TJP2,TJP2,TJP2,TJP2;FC=Silent,Missense_S1010F,Silent,Missense_S977F,Missense_S1041F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,40:88:99:991,0,1227:54:99:0.455 chr9 73150984 rs6560142 C T 2801.63 PASS BaseQRankSum=0.141;DP=98;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8667;MQ=59;MQ0=0;MQRankSum=1.414;QD=28.59;ReadPosRankSum=-0.954;SB=-1907.26;TI=NM_206946,NM_024971,NM_206947,NM_206944,NM_020952,NM_206945,NM_001007471;GI=TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3;FC=Missense_R1542Q,Missense_R1529Q,Missense_R1532Q,Missense_R1507Q,Missense_R1517Q,Missense_R1519Q,Missense_R1670Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,97:98:99:2835,170,0:59:99:0.990 chr9 73151715 rs7033976 C T 1925.05 PASS DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=33.19;SB=-789.01;TI=NM_206946,NM_024971,NM_206947,NM_206944,NM_020952,NM_206945,NM_001007471;GI=TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3;FC=Synonymous_L1298L,Synonymous_L1285L,Synonymous_L1288L,Synonymous_L1263L,Synonymous_L1273L,Synonymous_L1275L,Synonymous_L1426L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1958,147,0:57:99:1.000 chr9 73151970 rs3739776 C T 1572.04 PASS DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=32.75;SB=-638.63;TI=NM_206946,NM_024971,NM_206947,NM_206944,NM_020952,NM_206945,NM_001007471;GI=TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3;FC=Synonymous_S1213S,Synonymous_S1200S,Synonymous_S1203S,Synonymous_S1178S,Synonymous_S1188S,Synonymous_S1190S,Synonymous_S1341S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:99:1605,117,0:58:99:1.000 chr9 73240431 rs73451725 T G 491.37 PASS BaseQRankSum=0.596;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=1.732;QD=9.63;ReadPosRankSum=0.426;SB=-299.35;TI=NM_206946,NM_024971,NM_206947,NM_206944,NM_020952,NM_206945,NM_001007471;GI=TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3;FC=Silent,Synonymous_R392R,Silent,Silent,Silent,Synonymous_R392R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,23:51:99:521,0,709:54:99:0.451 chr9 73255554 rs12351775 G A 749.52 PASS BaseQRankSum=-0.506;DP=97;Dels=0.00;FS=0.776;HRun=0;HaplotypeScore=3.5489;MQ=49;MQ0=0;MQRankSum=1.097;QD=7.73;ReadPosRankSum=2.132;SB=-596.31;TI=NM_206946,NM_024971,NM_206947,NM_206944,NM_020952,NM_206945,NM_001007471;GI=TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3;FC=Synonymous_D328D,Synonymous_D303D,Synonymous_D328D,Synonymous_D303D,Synonymous_D303D,Synonymous_D303D,Synonymous_D456D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,38:97:99:780,0,1303:49:99:0.392 chr9 73458045 rs3833697 T TA 358.94 R8 BaseQRankSum=1.705;DP=61;FS=0.000;HRun=10;HaplotypeScore=91.9257;MQ=56;MQ0=0;MQRankSum=0.244;QD=5.88;ReadPosRankSum=-0.111;SB=-150.33;TI=NM_206946,NM_024971,NM_206947,NM_206944,NM_020952,NM_206945,NM_001007471,NM_001007470,NM_206948;GI=TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3;FC=Splicing,Splicing,Splicing,Splicing,Splicing,Splicing,Splicing,Splicing,Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,19:61:99:398,0,827:56:99:0.352 chr9 73461337 rs7862440 T A 1312.16 PASS BaseQRankSum=-0.038;DP=94;Dels=0.00;FS=0.943;HRun=0;HaplotypeScore=5.5759;MQ=57;MQ0=0;MQRankSum=-0.121;QD=13.96;ReadPosRankSum=-0.357;SB=-419.14;TI=NM_206946,NM_024971,NM_206947,NM_206944,NM_020952,NM_206945,NM_001007471,NM_001007470,NM_206948;GI=TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3;FC=Synonymous_A58A,Synonymous_A58A,Synonymous_A58A,Synonymous_A58A,Synonymous_A58A,Synonymous_A58A,Synonymous_A211A,Synonymous_A58A,Synonymous_A58A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,51:94:99:1342,0,1212:57:99:0.543 chr9 73479436 rs76606075 G A 7.08 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=7.08;SB=-0.01;TI=NM_206946,NM_024971,NM_206947,NM_206944,NM_020952,NM_206945,NM_001007471,NM_001007470,NM_206948;GI=TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3,TRPM3;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:36,3,0:60:3:1.000 chr9 74300311 rs36080695 T TA 152.41 R8 BaseQRankSum=-1.631;DP=42;FS=0.000;HRun=18;HaplotypeScore=187.7964;MQ=49;MQ0=0;MQRankSum=-1.177;QD=3.63;ReadPosRankSum=-1.755;SB=-53.59;TI=NM_001135820,NM_013390;GI=TMEM2,TMEM2;FC=Splicing,Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,7:42:67.25:191,0,67:49:67:0.212 chr9 74319576 rs25696 A T 2530.14 PASS BaseQRankSum=3.786;DP=198;Dels=0.00;FS=1.106;HRun=0;HaplotypeScore=3.7035;MQ=54;MQ0=0;MQRankSum=3.096;QD=12.78;ReadPosRankSum=1.003;SB=-1652.15;TI=NM_001135820,NM_013390;GI=TMEM2,TMEM2;FC=Synonymous_G980G,Synonymous_G1043G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,103:198:99:2560,0,2149:54:99:0.520 chr9 74319677 rs17057133 T C 2811.06 PASS BaseQRankSum=2.408;DP=246;Dels=0.00;FS=2.837;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=2.040;QD=11.43;ReadPosRankSum=1.285;SB=-1736.32;TI=NM_001135820,NM_013390;GI=TMEM2,TMEM2;FC=Missense_I947V,Missense_I1010V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:127,118:246:99:2841,0,2963:51:99:0.482 chr9 74349917 . CA C 125.83 R8 BaseQRankSum=0.791;DP=37;FS=0.000;HRun=14;HaplotypeScore=124.3029;MQ=58;MQ0=0;MQRankSum=0.892;QD=3.40;ReadPosRankSum=0.017;SB=-31.93;TI=NM_001135820,NM_013390;GI=TMEM2,TMEM2;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,6:37:99:165,0,353:58:99:0.214 chr9 75303653 rs2589615 C T 1919.11 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.99;SB=-1002.18;TI=NM_138691;GI=TMC1;FC=Synonymous_D15D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1952,141,0:55:99:1.000 chr9 75315438 rs1796993 G A 948.90 PASS BaseQRankSum=-0.954;DP=66;Dels=0.00;FS=2.202;HRun=2;HaplotypeScore=1.8888;MQ=52;MQ0=0;MQRankSum=-0.422;QD=14.38;ReadPosRankSum=-0.915;SB=-445.07;TI=NM_138691;GI=TMC1;FC=Missense_E81K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,38:66:99:979,0,672:52:99:0.576 chr9 75545882 rs13959 G A 891.30 PASS BaseQRankSum=-0.253;DP=125;Dels=0.00;FS=2.481;HRun=0;HaplotypeScore=5.9907;MQ=54;MQ0=0;MQRankSum=-0.988;QD=7.13;ReadPosRankSum=0.472;SB=-498.16;TI=NM_000689;GI=ALDH1A1;FC=Synonymous_S75S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,39:125:99:921,0,2098:54:99:0.312 chr9 77376647 rs2274924 T C 1625.18 PASS BaseQRankSum=0.616;DP=143;Dels=0.00;FS=2.104;HRun=0;HaplotypeScore=0.8941;MQ=49;MQ0=0;MQRankSum=-1.068;QD=11.36;ReadPosRankSum=0.365;SB=-1039.23;TI=NM_001177311,NM_001177310,NM_017662;GI=TRPM6,TRPM6,TRPM6;FC=Missense_K1579E,Missense_K1579E,Missense_K1584E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,70:143:99:1655,0,1814:49:99:0.490 chr9 77377410 rs3750425 C T 3995.60 PASS BaseQRankSum=0.763;DP=321;Dels=0.00;FS=8.433;HRun=1;HaplotypeScore=16.2645;MQ=55;MQ0=0;MQRankSum=0.795;QD=12.45;ReadPosRankSum=-0.395;SB=-2382.62;TI=NM_001177311,NM_001177310,NM_017662;GI=TRPM6,TRPM6,TRPM6;FC=Missense_V1388I,Missense_V1388I,Missense_V1393I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:162,158:321:99:3996,0,4251:55:99:0.494 chr9 77415284 rs7859201 A C 1561.48 PASS BaseQRankSum=1.167;DP=138;Dels=0.00;FS=2.195;HRun=0;HaplotypeScore=7.4145;MQ=50;MQ0=0;MQRankSum=-1.389;QD=11.32;ReadPosRankSum=0.038;SB=-886.83;TI=NM_001177311,NM_001177310,NM_017662;GI=TRPM6,TRPM6,TRPM6;FC=Synonymous_L703L,Synonymous_L703L,Synonymous_L708L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,67:138:99:1591,0,1663:50:99:0.486 chr9 80049298 rs1801258 C T 7627.97 PASS DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4644;MQ=56;MQ0=0;QD=32.46;SB=-4219.60;TI=NM_004297;GI=GNA14;FC=Synonymous_S150S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,235:235:99:7628,560,0:56:99:1.000 chr9 80919756 rs3739474 T G 3130.94 PASS DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4567;MQ=51;MQ0=0;QD=27.46;SB=-1933.08;TI=NM_058179,NM_021154;GI=PSAT1,PSAT1;FC=Synonymous_A99A,Synonymous_A99A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:114:99:3164,226,0:51:99:1.000 chr9 86617265 rs1982151 A G 1660.15 PASS BaseQRankSum=2.074;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=0.637;QD=12.03;ReadPosRankSum=-0.624;SB=-852.10;TI=NM_024945;GI=RMI1;FC=Missense_N455S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,59:138:99:1690,0,2103:55:99:0.428 chr9 86900926 rs7853758 G A 6033.29 PASS DP=206;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6717;MQ=54;MQ0=0;QD=29.29;SB=-3968.17;TI=NR_037638,NM_001199633,NM_022127;GI=SLC28A3,SLC28A3,SLC28A3;FC=Silent,Synonymous_L461L,Synonymous_L461L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,206:206:99:6033,436,0:54:99:1.000 chr9 86920236 rs7867504 T C 1818.39 PASS DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=27.98;SB=-1185.15;TI=NR_037638,NM_001199633,NM_022127;GI=SLC28A3,SLC28A3,SLC28A3;FC=Silent,Synonymous_T89T,Synonymous_T89T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:1851,135,0:52:99:1.000 chr9 90219920 rs36207428 G A 460.22 PASS BaseQRankSum=2.148;DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7604;MQ=58;MQ0=0;MQRankSum=0.863;QD=15.87;ReadPosRankSum=-0.598;SB=-106.90;TI=NM_004938;GI=DAPK1;FC=Synonymous_Q38Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,17:29:99:490,0,310:58:99:0.586 chr9 90258281 rs75446373 T A 3.60 LowGQX;LowVariantFreq;SB BaseQRankSum=-0.746;DP=26;Dels=0.00;FS=2.782;HRun=8;HaplotypeScore=8.6380;MQ=47;MQ0=0;MQRankSum=-1.457;QD=0.14;ReadPosRankSum=-1.741;SB=-0.01;TI=NM_004938;GI=DAPK1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,4:26:31.10:31,0,674:47:4:0.154 chr9 90265015 rs3818584 C T 1020.08 PASS BaseQRankSum=0.419;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.054;QD=13.60;ReadPosRankSum=-1.129;SB=-267.91;TI=NM_004938;GI=DAPK1;FC=Synonymous_D536D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,37:75:99:1050,0,987:55:99:0.493 chr9 90321149 . C T 2239.97 PASS BaseQRankSum=1.554;DP=168;Dels=0.00;FS=1.215;HRun=0;HaplotypeScore=10.0129;MQ=53;MQ0=0;MQRankSum=0.607;QD=13.33;ReadPosRankSum=-1.592;SB=-1402.53;TI=NM_004938;GI=DAPK1;FC=Missense_R1055W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,89:168:99:2270,0,1866:53:99:0.530 chr9 90322023 rs1056719 G A 4789.26 PASS DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0868;MQ=58;MQ0=0;QD=31.30;SB=-2816.66;TI=NM_004938;GI=DAPK1;FC=Missense_S1346N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:153:99:4789,352,0:58:99:1.000 chr9 90533746 rs531488;rs76333198 A G 364.51 SB;LowDP DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=26;MQ0=4;QD=21.44;SB=-0.01;TI=NM_001145124;GI=FAM75C1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,17:17:36.09:398,36,0:26:36:1.000 chr9 90534156 . T TTCTTGTCTCCCAGCGTCA 1891.90 PASS DP=24;FS=0.000;HRun=0;HaplotypeScore=15.6807;MQ=39;MQ0=0;QD=78.83;SB=-563.35;TI=NM_001145124;GI=FAM75C1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:16,7:24:36.12:1934,36,0:39:36:0.304 chr9 90537856 rs512437;rs79747501 A G 1364.45 PASS BaseQRankSum=-0.021;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=26;MQ0=11;MQRankSum=2.237;QD=19.77;ReadPosRankSum=0.064;SB=-585.54;TI=NM_001145124;GI=FAM75C1;FC=Missense_I1012V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,67:69:99:1397,126,0:26:99:0.971 chr9 90537892 rs512327 G C 676.76 PASS DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=19;MQ0=14;QD=13.54;SB=-186.74;TI=NM_001145124;GI=FAM75C1;FC=Missense_E1024Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:50:72.10:710,72,0:19:72:1.000 chr9 94118258 rs10991898 C T 1254.33 PASS BaseQRankSum=-2.078;DP=93;Dels=0.00;FS=9.430;HRun=0;HaplotypeScore=9.1341;MQ=54;MQ0=0;MQRankSum=0.961;QD=13.49;ReadPosRankSum=-0.867;SB=-272.98;TI=NM_001698;GI=AUH;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,45:93:99:1284,0,1163:54:99:0.489 chr9 94495608 rs10820900 T C 1706.27 PASS DP=63;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5707;MQ=56;MQ0=0;QD=27.08;SB=-888.90;TI=NM_004560;GI=ROR2;FC=Missense_T245A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:63:99:1739,126,0:56:99:1.000 chr9 95219597 rs4744132 G A 4595.10 PASS DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7687;MQ=55;MQ0=0;QD=28.72;SB=-2279.12;TI=NM_001012267,NM_017680,NM_001193335;GI=CENPP,ASPN,ASPN;FC=Silent,Synonymous_S372S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,160:160:99:4595,331,0:55:99:1.000 chr9 95237024 rs3832616 CTCA C 2043.86 R8 BaseQRankSum=0.368;DP=136;FS=6.671;HRun=0;HaplotypeScore=68.8391;MQ=57;MQ0=0;MQRankSum=1.456;QD=15.03;ReadPosRankSum=-0.399;SB=-952.62;TI=NM_001012267,NM_017680,NM_001193335;GI=CENPP,ASPN,ASPN;FC=Noncoding,1AA_Deletion,1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,46:136:99:2083,0,1782:57:99:0.343 chr9 95279986 . G A 1416.20 PASS BaseQRankSum=0.857;DP=140;Dels=0.00;FS=8.991;HRun=0;HaplotypeScore=9.0127;MQ=54;MQ0=0;MQRankSum=2.017;QD=10.12;ReadPosRankSum=-0.827;SB=-798.03;TI=NM_001012267,NM_001197296,NM_001393,NM_001197295;GI=CENPP,ECM2,ECM2,ECM2;FC=Silent,Missense_P155L,Missense_P155L,Missense_P155L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,59:140:99:1446,0,2011:54:99:0.421 chr9 95284982 rs10120210 T G 694.98 PASS BaseQRankSum=0.716;DP=71;Dels=0.00;FS=3.366;HRun=1;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=1.123;QD=9.79;ReadPosRankSum=1.077;SB=-472.66;TI=NM_001012267,NM_001197296,NM_001393,NM_001197295;GI=CENPP,ECM2,ECM2,ECM2;FC=Silent,Missense_Q56P,Missense_Q56P,Missense_Q56P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,30:71:99:725,0,1024:58:99:0.423 chr9 95778115 rs41273404 G C 1118.24 PASS BaseQRankSum=1.082;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7511;MQ=51;MQ0=0;MQRankSum=2.495;QD=9.56;ReadPosRankSum=-0.014;SB=-926.18;TI=NM_001083536,NM_033086;GI=FGD3,FGD3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,57:117:99:1148,0,1310:51:99:0.487 chr9 95780465 rs7048975 A G 3021.54 PASS DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=27.98;SB=-1988.36;TI=NM_001083536,NM_033086;GI=FGD3,FGD3;FC=Synonymous_T441T,Synonymous_T441T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:3055,217,0:50:99:1.000 chr9 96238578 rs10821135 C T 665.41 PASS BaseQRankSum=0.012;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-0.899;QD=9.51;ReadPosRankSum=-0.142;SB=-455.88;TI=NM_014612;GI=FAM120A;FC=Synonymous_H254H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,31:70:99:695,0,1103:53:99:0.443 chr9 96259883 . TA T 34.20 LowVariantFreq;R8 BaseQRankSum=0.484;DP=48;FS=0.000;HRun=11;HaplotypeScore=123.0314;MQ=53;MQ0=0;MQRankSum=1.203;QD=0.71;ReadPosRankSum=0.235;SB=-30.17;TI=NM_014612;GI=FAM120A;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,7:48:73.23:73,0,900:53:34:0.163 chr9 96407983 rs9695734 C T 4398.62 PASS BaseQRankSum=2.826;DP=375;Dels=0.00;FS=1.229;HRun=0;HaplotypeScore=16.9669;MQ=55;MQ0=0;MQRankSum=1.539;QD=11.73;ReadPosRankSum=-1.323;SB=-2796.78;TI=NM_005392;GI=PHF2;FC=Synonymous_T124T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:191,184:375:99:4399,0,4500:55:99:0.491 chr9 97365720 rs1769257 T C 3500.71 PASS BaseQRankSum=1.088;DP=305;Dels=0.00;FS=1.930;HRun=3;HaplotypeScore=10.7211;MQ=54;MQ0=0;MQRankSum=0.511;QD=11.48;ReadPosRankSum=0.623;SB=-2097.98;TI=NM_000507,NM_001127628;GI=FBP1,FBP1;FC=Synonymous_G320G,Synonymous_G320G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:156,149:305:99:3501,0,3525:54:99:0.489 chr9 97369149 rs1769259 C T 2856.48 PASS DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8100;MQ=54;MQ0=0;QD=28.56;SB=-1493.51;TI=NM_000507,NM_001127628;GI=FBP1,FBP1;FC=Missense_R218K,Missense_R218K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:100:99:2889,208,0:54:99:1.000 chr9 98229389 rs2066829 C G 415.22 SB BaseQRankSum=1.278;DP=25;Dels=0.00;FS=3.388;HRun=1;HaplotypeScore=0.9998;MQ=59;MQ0=0;MQRankSum=1.278;QD=16.61;ReadPosRankSum=1.713;SB=-0.01;TI=NM_001083607,NM_001083606,NM_001083604,NM_001083605,NM_000264,NM_001083603,NM_001083602;GI=PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,13:25:99:445,0,336:59:99:0.520 chr9 98238358 rs2066836 G A 610.13 PASS BaseQRankSum=-0.216;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2886;MQ=48;MQ0=0;MQRankSum=0.148;QD=8.47;ReadPosRankSum=0.967;SB=-428.65;TI=NM_001083607,NM_001083606,NM_001083604,NM_001083605,NM_000264,NM_001083603,NM_001083602;GI=PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1,PTCH1;FC=Synonymous_A411A,Synonymous_A411A,Synonymous_A411A,Synonymous_A411A,Synonymous_A562A,Synonymous_A561A,Synonymous_A496A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,31:72:99:640,0,865:48:99:0.431 chr9 100190780 rs1381532 A G 1768.60 PASS BaseQRankSum=-1.285;DP=132;Dels=0.00;FS=2.369;HRun=0;HaplotypeScore=1.8835;MQ=57;MQ0=0;MQRankSum=-0.811;QD=13.40;ReadPosRankSum=-0.683;SB=-714.18;TI=NM_014290;GI=TDRD7;FC=Synonymous_L11L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,69:132:99:1799,0,1705:57:99:0.523 chr9 100194406 rs2045732 T C 2136.96 PASS BaseQRankSum=1.241;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3643;MQ=56;MQ0=0;MQRankSum=0.103;QD=12.95;ReadPosRankSum=0.768;SB=-1317.90;TI=NM_014290;GI=TDRD7;FC=Missense_V150A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,85:165:99:2167,0,2016:56:99:0.515 chr9 100459578 rs1800975 T C 722.94 PASS BaseQRankSum=0.958;DP=63;Dels=0.00;FS=2.094;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=2.682;QD=11.48;ReadPosRankSum=0.862;SB=-455.63;TI=NR_027302,NM_000380;GI=XPA,XPA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,29:63:99:753,0,770:55:99:0.460 chr9 100616583 rs3021523 T C 1476.77 PASS DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=30.14;SB=-498.74;TI=NM_004473;GI=FOXE1;FC=Synonymous_L129L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:49:99:1510,111,0:56:99:1.000 chr9 100616700 . AGCCGCC A 443.88 LowGQ;R8;SB;LowDP DP=6;FS=0.000;HRun=0;HaplotypeScore=23.3398;MQ=36;MQ0=0;QD=73.98;SB=-0.00;TI=NM_004473;GI=FOXE1;FC=2AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:18.06:486,18,0:36:18:1.000 chr9 100616712 . C A 119.14 LowGQ;SB;LowDP BaseQRankSum=0.736;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=36;MQ0=0;MQRankSum=-0.736;QD=19.86;ReadPosRankSum=0.736;SB=-0.01;TI=NM_004473;GI=FOXE1;FC=Synonymous_A172A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,5:6:22.59:149,0,23:36:23:0.833 chr9 100617021 rs3021526 C T 18.41 SB;LowDP BaseQRankSum=-1.377;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=60;MQ0=0;MQRankSum=0.978;QD=1.67;ReadPosRankSum=0.382;SB=-0.01;TI=NM_004473;GI=FOXE1;FC=Synonymous_S275S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,3:11:48.34:48,0,293:60:18:0.273 chr9 101570053 . C A 6.77 LowGQX;LowDP BaseQRankSum=0.720;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48;MQ0=0;MQRankSum=-1.380;QD=0.97;ReadPosRankSum=1.380;SB=-30.98;TI=NM_024642;GI=GALNT12;FC=Missense_L25M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,2:7:35.74:36,0,81:48:7:0.333 chr9 101606425 rs35616709 C G 826.31 PASS BaseQRankSum=1.551;DP=85;Dels=0.00;FS=0.827;HRun=1;HaplotypeScore=3.8676;MQ=51;MQ0=0;MQRankSum=0.049;QD=9.72;ReadPosRankSum=0.323;SB=-530.19;TI=NM_024642;GI=GALNT12;FC=Synonymous_P464P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,38:85:99:856,0,1057:51:99:0.447 chr9 103015184 rs2245216 T C 905.70 PASS BaseQRankSum=-1.775;DP=62;Dels=0.00;FS=10.359;HRun=2;HaplotypeScore=5.5759;MQ=59;MQ0=0;MQRankSum=-0.304;QD=14.61;ReadPosRankSum=-0.700;SB=-276.07;TI=NM_183245,NM_014425;GI=INVS,INVS;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,34:62:99:936,0,909:59:99:0.548 chr9 103054951 rs2787374 T C 2217.62 PASS BaseQRankSum=0.459;DP=183;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=15.0387;MQ=56;MQ0=0;MQRankSum=-0.310;QD=12.12;ReadPosRankSum=-1.380;SB=-1338.82;TI=NM_183245,NM_014425;GI=INVS,INVS;FC=Silent,Synonymous_S804S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,87:183:99:2248,0,2417:56:99:0.478 chr9 104133628 rs1572983 C T 403.09 SB;LowDP DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=36.64;SB=-0.01;TI=NM_001127610,NM_001701;GI=BAAT,BAAT;FC=Missense_R20Q,Missense_R20Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,11:11:33.11:436,33,0:60:33:1.000 chr9 104385712 rs10989564 A G 796.26 PASS BaseQRankSum=1.197;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=2.430;QD=17.69;ReadPosRankSum=0.581;SB=-382.95;TI=NM_133445;GI=GRIN3A;FC=Synonymous_N834N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,29:45:99:826,0,388:55:99:0.644 chr9 104432873 rs942142 T G 5980.12 PASS BaseQRankSum=3.055;DP=438;Dels=0.00;FS=6.045;HRun=1;HaplotypeScore=8.2799;MQ=56;MQ0=0;MQRankSum=3.754;QD=13.65;ReadPosRankSum=0.789;SB=-3795.49;TI=NM_133445;GI=GRIN3A;FC=Synonymous_A607A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:202,236:438:99:5980,0,5050:56:99:0.539 chr9 104433034 rs10512285 A G 4122.97 PASS BaseQRankSum=1.385;DP=315;Dels=0.00;FS=12.988;HRun=0;HaplotypeScore=9.1982;MQ=54;MQ0=0;MQRankSum=1.588;QD=13.09;ReadPosRankSum=-2.948;SB=-1724.77;TI=NM_133445;GI=GRIN3A;FC=Synonymous_L554L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:162,152:315:99:4123,0,4033:54:99:0.484 chr9 104433235 rs76198691 C T 801.62 PASS BaseQRankSum=-0.908;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9672;MQ=57;MQ0=0;MQRankSum=-0.016;QD=10.41;ReadPosRankSum=-1.583;SB=-426.96;TI=NM_133445;GI=GRIN3A;FC=Missense_G487R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,29:77:99:832,0,1242:57:99:0.387 chr9 104433347 rs13284303 G A 982.78 PASS BaseQRankSum=0.517;DP=85;Dels=0.00;FS=1.803;HRun=1;HaplotypeScore=5.4701;MQ=55;MQ0=0;MQRankSum=1.002;QD=11.56;ReadPosRankSum=-1.523;SB=-576.55;TI=NM_133445;GI=GRIN3A;FC=Synonymous_I449I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,38:85:99:1013,0,1121:55:99:0.452 chr9 104449063 rs2506354 C T 3310.68 PASS BaseQRankSum=0.711;DP=270;Dels=0.00;FS=2.129;HRun=0;HaplotypeScore=17.4871;MQ=54;MQ0=0;MQRankSum=1.659;QD=12.26;ReadPosRankSum=0.596;SB=-1459.00;TI=NM_133445;GI=GRIN3A;FC=Synonymous_G373G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:143,126:270:99:3311,0,3513:54:99:0.468 chr9 104449294 rs33945236 G A 2376.55 PASS BaseQRankSum=-0.127;DP=197;Dels=0.00;FS=1.120;HRun=0;HaplotypeScore=1.8932;MQ=55;MQ0=0;MQRankSum=2.240;QD=12.06;ReadPosRankSum=-0.580;SB=-1295.49;TI=NM_133445;GI=GRIN3A;FC=Synonymous_N296N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,91:197:99:2407,0,2718:55:99:0.462 chr9 104499575 rs1337677 T C 997.43 SB DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=38.36;SB=-0.01;TI=NM_133445;GI=GRIN3A;FC=Synonymous_P229P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,26:26:78.25:1030,78,0:60:78:1.000 chr9 107556793 . T TAAA 762.02 LowGQ;R8 BaseQRankSum=0.075;DP=43;FS=0.000;HRun=18;HaplotypeScore=201.7355;MQ=48;MQ0=0;MQRankSum=-2.234;QD=17.72;ReadPosRankSum=0.628;SB=-185.14;TI=NM_005502;GI=ABCA1;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,20:43:22.35:801,0,22:48:22:0.606 chr9 107562804 rs2230808 T C 2567.45 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=28.85;SB=-1445.99;TI=NM_005502;GI=ABCA1;FC=Missense_K1587R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2600,187,0:56:99:1.000 chr9 107586753 rs2066714 T C 2287.41 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=27.23;SB=-1613.01;TI=NM_005502;GI=ABCA1;FC=Missense_I883M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2320,166,0:54:99:1.000 chr9 107588033 rs2066715 C T 2775.91 PASS DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=28.04;SB=-1858.12;TI=NM_005502;GI=ABCA1;FC=Missense_V825I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,99:99:99:2809,202,0:52:99:1.000 chr9 107591272 rs2853579 G T 3640.50 PASS DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0979;MQ=52;MQ0=0;QD=26.97;SB=-2468.84;TI=NM_005502;GI=ABCA1;FC=Synonymous_I680I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:135:99:3640,262,0:52:99:1.000 chr9 108366734 rs34787999 G A 777.27 PASS BaseQRankSum=1.754;DP=57;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=1.754;QD=13.64;ReadPosRankSum=1.514;SB=-408.91;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Missense_R203Q,Missense_R203Q,Missense_R203Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,31:57:99:807,0,657:58:99:0.544 chr9 108380355 rs17309806 C A 2201.87 PASS BaseQRankSum=0.621;DP=182;Dels=0.00;FS=1.843;HRun=3;HaplotypeScore=7.4261;MQ=58;MQ0=0;MQRankSum=-1.832;QD=12.10;ReadPosRankSum=-1.446;SB=-1571.12;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Synonymous_L342L,Synonymous_L342L,Synonymous_L342L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,94:182:99:2232,0,2096:58:99:0.516 chr9 111641806 rs79596285 G A 987.77 PASS BaseQRankSum=0.024;DP=82;Dels=0.00;FS=1.838;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=1.768;QD=12.05;ReadPosRankSum=0.246;SB=-631.39;TI=NM_003640;GI=IKBKAP;FC=Synonymous_D1164D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,42:82:99:1018,0,1008:53:99:0.525 chr9 111641825 rs1538660 G A 784.92 PASS BaseQRankSum=-0.424;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8857;MQ=56;MQ0=0;MQRankSum=-0.666;QD=12.26;ReadPosRankSum=-2.253;SB=-467.51;TI=NM_003640;GI=IKBKAP;FC=Missense_P1158L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,30:64:99:815,0,855:56:99:0.469 chr9 111644396 rs2275495 G A 959.61 PASS BaseQRankSum=0.087;DP=77;Dels=0.00;FS=0.874;HRun=2;HaplotypeScore=3.7876;MQ=54;MQ0=0;MQRankSum=2.350;QD=12.46;ReadPosRankSum=0.015;SB=-523.12;TI=NM_003640;GI=IKBKAP;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,40:77:99:990,0,898:54:99:0.519 chr9 111651620 rs3204145 A T 543.23 PASS BaseQRankSum=-0.498;DP=51;Dels=0.00;FS=4.076;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=0.107;QD=10.65;ReadPosRankSum=0.831;SB=-344.66;TI=NM_003640;GI=IKBKAP;FC=Missense_C1072S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,22:51:99:573,0,665:54:99:0.440 chr9 111659439 rs2230794 T C 2282.88 PASS BaseQRankSum=4.285;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3863;MQ=53;MQ0=0;MQRankSum=-0.419;QD=11.08;ReadPosRankSum=0.405;SB=-1365.86;TI=NM_003640;GI=IKBKAP;FC=Missense_I830M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,97:206:99:2313,0,2803:53:99:0.471 chr9 111659483 rs2230793 T G 2541.34 PASS BaseQRankSum=1.913;DP=248;Dels=0.00;FS=0.990;HRun=0;HaplotypeScore=7.2206;MQ=51;MQ0=0;MQRankSum=-2.448;QD=10.25;ReadPosRankSum=-1.751;SB=-1505.78;TI=NM_003640;GI=IKBKAP;FC=Missense_I816L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,112:248:99:2571,0,3292:51:99:0.452 chr9 111660851 rs2230792 C T 571.61 PASS BaseQRankSum=1.341;DP=77;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-0.555;QD=7.42;ReadPosRankSum=-0.587;SB=-308.69;TI=NM_003640;GI=IKBKAP;FC=Missense_G765E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,26:77:99:602,0,1324:52:99:0.338 chr9 111679872 rs12340246 G A 2021.66 PASS BaseQRankSum=1.301;DP=242;Dels=0.00;FS=0.483;HRun=1;HaplotypeScore=5.4678;MQ=50;MQ0=0;MQRankSum=1.110;QD=8.35;ReadPosRankSum=1.119;SB=-1299.48;TI=NM_003640;GI=IKBKAP;FC=Synonymous_L273L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:149,93:242:99:2052,0,3769:50:99:0.384 chr9 111688828 rs2230788 C T 900.26 PASS BaseQRankSum=0.674;DP=81;Dels=0.00;FS=0.845;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=1.328;QD=11.11;ReadPosRankSum=1.309;SB=-643.55;TI=NM_003640;GI=IKBKAP;FC=Synonymous_Q147Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,39:81:99:930,0,1050:54:99:0.488 chr9 112899361 rs4978872 A C 2281.23 PASS BaseQRankSum=1.316;DP=75;Dels=0.00;FS=3.582;HRun=0;HaplotypeScore=5.5094;MQ=57;MQ0=0;MQRankSum=0.208;QD=30.42;ReadPosRankSum=-0.346;SB=-1203.65;TI=NM_147150,NM_007203,NM_001004065,NM_001198656,NM_001136562;GI=PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2;FC=Missense_K513Q,Missense_K513Q,Missense_K371Q,Missense_K371Q,Missense_K282Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,74:75:99:2314,140,0:57:99:0.987 chr9 112900199 rs914358 T C 732.43 PASS BaseQRankSum=-0.625;DP=64;Dels=0.00;FS=3.817;HRun=0;HaplotypeScore=7.5030;MQ=57;MQ0=0;MQRankSum=1.760;QD=11.44;ReadPosRankSum=1.349;SB=-327.36;TI=NM_147150,NM_007203,NM_001004065,NM_001198656,NM_001136562;GI=PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2;FC=Missense_L792S,Missense_L792S,Missense_L650S,Missense_L650S,Missense_L561S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,27:64:99:762,0,1062:57:99:0.435 chr9 112900341 . G GGAAGCT 1398.76 PASS BaseQRankSum=-0.859;DP=44;FS=1.147;HRun=0;HaplotypeScore=56.0257;MQ=56;MQ0=0;MQRankSum=0.430;QD=31.79;ReadPosRankSum=-0.177;SB=-667.87;TI=NM_147150,NM_007203,NM_001004065,NM_001198656,NM_001136562;GI=PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2;FC=2AA_Insertion,2AA_Insertion,2AA_Insertion,2AA_Insertion,2AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,18:44:99:1438,0,1804:56:99:0.419 chr9 112900785 rs3739456 A G 202.52 PASS BaseQRankSum=0.759;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=54;MQ0=0;MQRankSum=0.915;QD=6.33;ReadPosRankSum=0.837;SB=-163.77;TI=NM_147150,NM_007203,NM_001004065,NM_001198656,NM_001136562;GI=PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2;FC=Synonymous_S987S,Synonymous_S987S,Synonymous_S845S,Synonymous_S845S,Synonymous_S756S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,12:32:99:233,0,568:54:99:0.375 chr9 113637854 rs3739709 G A 957.27 PASS BaseQRankSum=0.905;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.6908;MQ=58;MQ0=0;MQRankSum=0.340;QD=13.48;ReadPosRankSum=0.271;SB=-486.39;TI=NM_001401,NM_057159;GI=LPAR1,LPAR1;FC=Synonymous_R314R,Synonymous_R314R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,38:71:99:987,0,787:58:99:0.535 chr9 116152891 rs8177807 A G 2373.51 PASS BaseQRankSum=2.578;DP=184;Dels=0.00;FS=0.556;HRun=0;HaplotypeScore=10.1865;MQ=55;MQ0=0;MQRankSum=-0.990;QD=12.90;ReadPosRankSum=-0.127;SB=-1385.30;TI=NM_000031;GI=ALAD;FC=Synonymous_L155L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,93:184:99:2404,0,2225:55:99:0.508 chr9 116153900 rs1139488 A G 2288.64 PASS DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3377;MQ=57;MQ0=0;QD=28.61;SB=-1027.99;TI=NM_000031;GI=ALAD;FC=Synonymous_Y56Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2322,169,0:57:99:1.000 chr9 117166311 rs34963246 G A 2776.89 PASS BaseQRankSum=0.131;DP=203;Dels=0.00;FS=2.487;HRun=0;HaplotypeScore=5.3097;MQ=54;MQ0=0;MQRankSum=2.017;QD=13.68;ReadPosRankSum=-0.364;SB=-1400.62;TI=NM_001083885,NM_015404,NM_001173425;GI=DFNB31,DFNB31,DFNB31;FC=Synonymous_S378S,Synonymous_S761S,Synonymous_S760S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,111:203:99:2807,0,2257:54:99:0.547 chr9 117166338 rs6478078 G C 4335.94 PASS DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=29.30;SB=-2285.18;TI=NM_001083885,NM_015404,NM_001173425;GI=DFNB31,DFNB31,DFNB31;FC=Missense_H369Q,Missense_H752Q,Missense_H751Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:148:99:4336,319,0:54:99:1.000 chr9 117186677 rs4979387 A G 2427.09 PASS DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0153;MQ=53;MQ0=0;QD=26.38;SB=-1391.17;TI=NM_001083885,NM_015404,NM_001173425;GI=DFNB31,DFNB31,DFNB31;FC=Synonymous_G68G,Synonymous_G451G,Synonymous_G451G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2460,178,0:53:99:1.000 chr9 117188566 rs10817610 C T 7912.91 PASS BaseQRankSum=1.719;DP=265;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.4647;MQ=54;MQ0=0;MQRankSum=1.719;QD=29.86;ReadPosRankSum=-1.170;SB=-4705.65;TI=NM_001083885,NM_015404,NM_001173425;GI=DFNB31,DFNB31,DFNB31;FC=Silent,Missense_R364H,Missense_R364H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,264:265:99:7913,575,0:54:99:0.996 chr9 117266965 rs2297815 C T 256.55 PASS BaseQRankSum=-0.501;DP=20;Dels=0.00;FS=1.984;HRun=0;HaplotypeScore=2.9983;MQ=58;MQ0=0;MQRankSum=0.964;QD=12.83;ReadPosRankSum=0.193;SB=-179.56;TI=NM_015404,NM_001173425;GI=DFNB31,DFNB31;FC=Synonymous_V39V,Synonymous_V39V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,12:20:99:287,0,238:58:99:0.600 chr9 117552885 rs3810936 T C 726.73 PASS BaseQRankSum=0.394;DP=47;Dels=0.00;FS=4.283;HRun=0;HaplotypeScore=1.8939;MQ=57;MQ0=0;MQRankSum=-0.096;QD=15.46;ReadPosRankSum=-1.375;SB=-409.17;TI=NM_005118;GI=TNFSF15;FC=Synonymous_V201V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,25:47:99:757,0,645:57:99:0.532 chr9 117783551 rs35292274 TA T 84.58 R8 BaseQRankSum=-0.172;DP=41;FS=6.499;HRun=12;HaplotypeScore=157.8039;MQ=51;MQ0=0;MQRankSum=1.236;QD=2.06;ReadPosRankSum=2.232;SB=-30.75;TI=NM_002160;GI=TNC;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,8:40:99:124,0,501:51:85:0.216 chr9 117792583 rs13321 C G 791.45 PASS BaseQRankSum=-1.173;DP=99;Dels=0.00;FS=0.784;HRun=0;HaplotypeScore=4.5487;MQ=52;MQ0=0;MQRankSum=-0.645;QD=7.99;ReadPosRankSum=0.831;SB=-560.17;TI=NM_002160;GI=TNC;FC=Missense_E2008Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,40:99:99:821,0,1239:52:99:0.404 chr9 117819436 rs17819466 C T 2292.43 PASS BaseQRankSum=3.915;DP=193;Dels=0.00;FS=1.135;HRun=1;HaplotypeScore=15.5226;MQ=52;MQ0=0;MQRankSum=3.313;QD=11.88;ReadPosRankSum=1.447;SB=-1501.41;TI=NM_002160;GI=TNC;FC=Synonymous_T1525T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,102:193:99:2322,0,1990:52:99:0.528 chr9 117846570 rs2274836 C T 2523.07 PASS BaseQRankSum=2.104;DP=175;Dels=0.00;FS=1.250;HRun=1;HaplotypeScore=8.3952;MQ=55;MQ0=0;MQRankSum=1.177;QD=14.42;ReadPosRankSum=-0.655;SB=-1387.59;TI=NM_002160;GI=TNC;FC=Synonymous_E683E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,104:175:99:2553,0,1641:55:99:0.594 chr9 117846580 rs1061494 T C 1475.84 PASS BaseQRankSum=-0.605;DP=147;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.2925;MQ=56;MQ0=0;MQRankSum=0.726;QD=10.04;ReadPosRankSum=0.393;SB=-844.97;TI=NM_002160;GI=TNC;FC=Missense_Q680R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,63:147:99:1506,0,2193:56:99:0.429 chr9 117848394 rs1757095 T C 544.92 LowDP DP=18;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=30.27;SB=-238.32;TI=NM_002160;GI=TNC;FC=Missense_Q539R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,18:18:42.14:578,42,0:60:42:1.000 chr9 117849314 rs2992147 T C 413.22 PASS BaseQRankSum=0.689;DP=31;Dels=0.00;FS=1.515;HRun=0;HaplotypeScore=5.8857;MQ=59;MQ0=0;MQRankSum=0.603;QD=13.33;ReadPosRankSum=1.119;SB=-312.12;TI=NM_002160;GI=TNC;FC=Synonymous_V232V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,19:31:99:443,0,232:59:99:0.633 chr9 117853022 rs944510 C T 646.68 PASS BaseQRankSum=0.510;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6438;MQ=56;MQ0=0;MQRankSum=3.201;QD=9.95;ReadPosRankSum=1.285;SB=-357.22;TI=NM_002160;GI=TNC;FC=Synonymous_V92V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,24:65:99:677,0,995:56:99:0.369 chr9 118163563 rs2269700 C T 960.52 PASS BaseQRankSum=0.608;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=52;MQ0=0;MQRankSum=1.498;QD=10.56;ReadPosRankSum=0.624;SB=-680.68;TI=NM_017418;GI=DEC1;FC=Missense_A60V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,43:91:99:991,0,1168:52:99:0.473 chr9 119375808 . C A 3.90 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.736;QD=1.30;ReadPosRankSum=0.736;SB=-0.01;TI=NM_198186,NM_198187,NM_001184734,NM_198188,NM_014010,NM_001184735;GI=ASTN2,ASTN2,ASTN2,ASTN2,ASTN2,ASTN2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:31.62:32,0,72:60:4:0.333 chr9 119495697 rs7863560 T C 5500.40 PASS DP=185;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.5392;MQ=55;MQ0=0;QD=29.73;SB=-2717.10;TI=NM_014010;GI=ASTN2;FC=Synonymous_P783P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,185:185:99:5500,406,0:55:99:1.000 chr9 119770480 rs3761845 C T 3401.22 PASS BaseQRankSum=-0.934;DP=224;Dels=0.00;FS=3.902;HRun=0;HaplotypeScore=6.2929;MQ=54;MQ0=0;MQRankSum=1.445;QD=15.18;ReadPosRankSum=0.860;SB=-2021.68;TI=NM_014010;GI=ASTN2;FC=Synonymous_P443P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,136:224:99:3401,0,2090:54:99:0.607 chr9 120053776 rs7848630 T C 3686.10 PASS BaseQRankSum=0.675;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.0704;MQ=57;MQ0=0;MQRankSum=1.145;QD=31.24;ReadPosRankSum=-0.793;SB=-1343.33;TI=NM_014010;GI=ASTN2;FC=Synonymous_A153A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,117:118:99:3686,240,0:57:99:0.992 chr9 123170733 rs4837768 C G 3567.56 PASS DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7685;MQ=54;MQ0=0;QD=29.00;SB=-2106.55;TI=NM_018249,NM_001011649;GI=CDK5RAP2,CDK5RAP2;FC=Missense_V1540L,Missense_V1540L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:3568,256,0:54:99:1.000 chr9 123287276 . G A 1085.94 PASS BaseQRankSum=1.295;DP=102;Dels=0.00;FS=0.765;HRun=0;HaplotypeScore=6.2256;MQ=55;MQ0=0;MQRankSum=3.317;QD=10.65;ReadPosRankSum=0.452;SB=-718.96;TI=NM_018249,NM_001011649;GI=CDK5RAP2,CDK5RAP2;FC=Synonymous_T360T,Synonymous_T360T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,50:102:99:1116,0,1142:55:99:0.490 chr9 123291036 rs4836822 C G 3420.05 PASS BaseQRankSum=0.604;DP=129;Dels=0.00;FS=3.044;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-0.497;QD=26.51;ReadPosRankSum=1.222;SB=-2433.70;TI=NM_018249,NM_001011649;GI=CDK5RAP2,CDK5RAP2;FC=Missense_E289Q,Missense_E289Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,128:129:99:3420,206,0:52:99:0.992 chr9 123342259 rs932975 C A 1957.20 PASS DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49;MQ0=0;QD=27.18;SB=-1301.09;TI=NM_018249,NM_001011649;GI=CDK5RAP2,CDK5RAP2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:1990,144,0:49:99:1.000 chr9 123769200 rs17611 C T 3429.59 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4599;MQ=52;MQ0=0;QD=29.57;SB=-2007.86;TI=NM_001735;GI=C5;FC=Missense_V802I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3430,250,0:52:99:1.000 chr9 123780005 rs25681 G A 3157.09 PASS DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6821;MQ=53;MQ0=0;QD=31.26;SB=-1715.72;TI=NM_001735;GI=C5;FC=Synonymous_Y544Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:3190,235,0:53:99:1.000 chr9 124088806 . G A 2480.83 PASS BaseQRankSum=2.927;DP=157;Dels=0.00;FS=0.637;HRun=0;HaplotypeScore=14.8562;MQ=54;MQ0=0;MQRankSum=0.368;QD=15.80;ReadPosRankSum=-2.354;SB=-1166.59;TI=NM_001127665,NM_198252,NM_001127664,NM_001127663,NM_001127666,NM_001127662,NM_001127667,NM_000177;GI=GSN,GSN,GSN,GSN,GSN,GSN,GSN,GSN;FC=Missense_G478D,Missense_G478D,Missense_G478D,Missense_G478D,Missense_G489D,Missense_G478D,Missense_G489D,Missense_G529D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,98:157:99:2511,0,1357:54:99:0.624 chr9 124794020 rs61740840 G T 808.41 PASS BaseQRankSum=1.464;DP=83;Dels=0.00;FS=0.840;HRun=0;HaplotypeScore=1.8874;MQ=53;MQ0=0;MQRankSum=-0.014;QD=9.74;ReadPosRankSum=-0.616;SB=-604.88;TI=NM_001139442,NM_194252;GI=TTLL11,TTLL11;FC=Missense_F315L,Missense_F315L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,39:83:99:838,0,988:53:99:0.470 chr9 124855211 rs61742319 C T 983.14 PASS BaseQRankSum=1.595;DP=58;Dels=0.00;FS=1.235;HRun=0;HaplotypeScore=6.1301;MQ=57;MQ0=0;MQRankSum=0.841;QD=16.95;ReadPosRankSum=0.777;SB=-271.39;TI=NM_001139442,NM_194252;GI=TTLL11,TTLL11;FC=Missense_A163T,Missense_A163T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,36:58:99:1013,0,592:57:99:0.621 chr9 124914613 rs4679 C T 746.24 PASS BaseQRankSum=3.473;DP=68;Dels=0.00;FS=2.029;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-0.380;QD=10.97;ReadPosRankSum=0.147;SB=-467.58;TI=NM_014222;GI=NDUFA8;FC=Synonymous_E42E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,33:68:99:776,0,861:53:99:0.485 chr9 125133479 rs1236913 T C 3958.70 PASS DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=55;MQ0=0;QD=29.99;SB=-2213.88;TI=NM_000962,NM_080591;GI=PTGS1,PTGS1;FC=Missense_W8R,Missense_W8R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:132:99:3959,292,0:55:99:1.000 chr9 125143792 rs5788 C A 2309.30 PASS BaseQRankSum=1.446;DP=199;Dels=0.00;FS=1.780;HRun=2;HaplotypeScore=6.4493;MQ=54;MQ0=0;MQRankSum=1.557;QD=11.60;ReadPosRankSum=-0.646;SB=-1413.38;TI=NM_000962,NM_080591;GI=PTGS1,PTGS1;FC=Synonymous_G213G,Synonymous_G213G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,96:199:99:2339,0,2489:54:99:0.485 chr9 127245028 . G C 67.72 SB BaseQRankSum=-1.880;DP=23;Dels=0.04;FS=5.563;HRun=5;HaplotypeScore=18.7126;MQ=46;MQ0=0;MQRankSum=-2.986;QD=2.94;ReadPosRankSum=-2.101;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,6:22:97.71:98,0,409:46:68:0.273 chr9 129377855 rs1336980 G C 1363.41 PASS BaseQRankSum=1.654;DP=141;Dels=0.00;FS=0.643;HRun=1;HaplotypeScore=10.6175;MQ=55;MQ0=0;MQRankSum=-0.084;QD=9.67;ReadPosRankSum=1.654;SB=-911.13;TI=NM_001174146,NM_002316,NM_001174147;GI=LMX1B,LMX1B,LMX1B;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,59:141:99:1393,0,1879:55:99:0.421 chr9 130219669 rs2243906 C T 2447.03 PASS DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7670;MQ=54;MQ0=0;QD=25.76;SB=-1741.47;TI=NM_001005373,NM_001190723,NM_138361,NM_001005374;GI=LRSAM1,LRSAM1,LRSAM1,LRSAM1;FC=Synonymous_I83I,Synonymous_I83I,Synonymous_I83I,Synonymous_I83I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:2480,178,0:54:99:1.000 chr9 130242109 rs1539568 C T 673.55 PASS BaseQRankSum=0.458;DP=52;Dels=0.00;FS=2.665;HRun=0;HaplotypeScore=1.9987;MQ=56;MQ0=0;MQRankSum=1.831;QD=12.95;ReadPosRankSum=0.641;SB=-300.52;TI=NM_001005373,NM_001190723,NM_138361,NM_001005374;GI=LRSAM1,LRSAM1,LRSAM1,LRSAM1;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,27:52:99:704,0,740:56:99:0.519 chr9 130242166 rs1539567 A G 2288.10 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7541;MQ=56;MQ0=0;QD=25.14;SB=-1680.35;TI=NM_001005373,NM_001190723,NM_138361,NM_001005374;GI=LRSAM1,LRSAM1,LRSAM1,LRSAM1;FC=Missense_N318D,Missense_N318D,Missense_N318D,Missense_N318D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2321,163,0:56:99:1.000 chr9 130259618 rs2248822 A C 1181.76 PASS DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=26.86;SB=-759.90;TI=NM_001005373,NM_001190723,NM_138361,NM_001005374;GI=LRSAM1,LRSAM1,LRSAM1,LRSAM1;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:87.29:1215,87,0:54:87:1.000 chr9 130565267 rs10760502 A G 1097.25 PASS DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3631;MQ=53;MQ0=0;QD=26.12;SB=-709.82;TI=NM_004957;GI=FPGS;FC=Missense_I22V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:81.27:1130,81,0:53:81:1.000 chr9 130572117 . A G 33.12 LowVariantFreq;SB BaseQRankSum=-1.898;DP=24;Dels=0.00;FS=5.798;HRun=4;HaplotypeScore=23.5383;MQ=48;MQ0=0;MQRankSum=-2.440;QD=1.38;ReadPosRankSum=1.356;SB=-0.01;TI=NM_004957,NM_001018078;GI=FPGS,FPGS;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,4:24:63.11:63,0,481:48:33:0.167 chr9 130572123 rs7027767 A G 290.82 PASS BaseQRankSum=-0.181;DP=22;Dels=0.05;FS=5.008;HRun=3;HaplotypeScore=20.6842;MQ=47;MQ0=0;MQRankSum=-0.833;QD=13.22;ReadPosRankSum=-0.326;SB=-168.78;TI=NM_004957,NM_001018078;GI=FPGS,FPGS;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,13:21:99:321,0,181:47:99:0.619 chr9 130575615 . C T 1641.75 PASS BaseQRankSum=0.593;DP=126;Dels=0.00;FS=7.172;HRun=1;HaplotypeScore=2.8936;MQ=58;MQ0=0;MQRankSum=-1.110;QD=13.03;ReadPosRankSum=-0.256;SB=-889.08;TI=NM_004957,NM_001018078;GI=FPGS,FPGS;FC=Missense_S499F,Missense_S449F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,64:126:99:1672,0,1718:58:99:0.508 chr9 130630639 rs913986 A G 4006.16 PASS BaseQRankSum=-0.298;DP=157;Dels=0.00;FS=3.010;HRun=2;HaplotypeScore=2.7605;MQ=52;MQ0=0;MQRankSum=-0.011;QD=25.52;ReadPosRankSum=0.077;SB=-2926.62;TI=NM_000476;GI=AK1;FC=Synonymous_P159P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,156:157:99:4006,251,0:52:99:0.994 chr9 130883511 rs2040004 C T 7578.84 PASS DP=277;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3041;MQ=54;MQ0=0;QD=27.36;SB=-5388.21;TI=NM_025072,NR_027811,NR_027812;GI=PTGES2,PTGES2,PTGES2;FC=Synonymous_A349A,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,276:277:99:7579,539,0:54:99:1.000 chr9 130984755 rs3003609 C T 1504.06 PASS BaseQRankSum=0.488;DP=135;Dels=0.00;FS=3.152;HRun=2;HaplotypeScore=8.9643;MQ=53;MQ0=0;MQRankSum=1.816;QD=11.14;ReadPosRankSum=-2.054;SB=-866.91;TI=NM_004408,NM_001005336;GI=DNM1,DNM1;FC=Synonymous_F336F,Synonymous_F336F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,67:135:99:1534,0,1631:53:99:0.504 chr9 131085373 rs3003601 G C 3455.28 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4870;MQ=55;MQ0=0;QD=30.05;SB=-1492.97;TI=NM_016035;GI=COQ4;FC=Missense_G50A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3455,256,0:55:99:1.000 chr9 131284948 . A G 3.37 LowGQX;SB BaseQRankSum=-4.029;DP=54;Dels=0.00;FS=17.087;HRun=3;HaplotypeScore=41.7390;MQ=42;MQ0=0;MQRankSum=-2.704;QD=0.06;ReadPosRankSum=-1.227;SB=-0.01;TI=NM_001499,NM_001003722;GI=GLE1,GLE1;FC=Missense_E145G,Missense_E145G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,12:54:30.69:31,0,1028:42:3:0.231 chr9 131346218 rs10760566 A C 2480.99 PASS DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=29.89;SB=-1279.12;TI=NM_003127,NM_001195532,NM_001130438;GI=SPTAN1,SPTAN1,SPTAN1;FC=Synonymous_A721A,Synonymous_A721A,Synonymous_A721A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2514,184,0:53:99:1.000 chr9 131360750 rs2227864 C T 1755.75 PASS DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9106;MQ=56;MQ0=0;QD=27.87;SB=-795.09;TI=NM_003127,NM_001195532,NM_001130438;GI=SPTAN1,SPTAN1,SPTAN1;FC=Synonymous_L1162L,Synonymous_L1142L,Synonymous_L1162L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1789,132,0:56:99:1.000 chr9 131375701 rs1415568 A G 4262.85 PASS DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1354;MQ=52;MQ0=0;QD=26.81;SB=-2716.44;TI=NM_003127,NM_001195532,NM_001130438;GI=SPTAN1,SPTAN1,SPTAN1;FC=Synonymous_L1690L,Synonymous_L1670L,Synonymous_L1695L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,159:159:99:4263,304,0:52:99:1.000 chr9 131379967 rs2227862 C T 2492.58 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=52;MQ0=0;QD=28.01;SB=-1364.69;TI=NM_003127,NM_001195532,NM_001130438;GI=SPTAN1,SPTAN1,SPTAN1;FC=Synonymous_T1797T,Synonymous_T1777T,Synonymous_T1802T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2526,184,0:52:99:1.000 chr9 131479023 rs10739729 T C 423.39 LowDP DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=28.23;SB=-161.95;TI=NM_013355;GI=PKN3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,15:15:33.11:456,33,0:56:33:1.000 chr9 131670919 rs3750319 T C 1753.34 PASS DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3882;MQ=58;MQ0=0;QD=31.31;SB=-910.22;TI=NM_001127245,NM_019594,NM_001127244;GI=LRRC8A,LRRC8A,LRRC8A;FC=Synonymous_R492R,Synonymous_R492R,Synonymous_R492R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:56:99:1786,132,0:58:99:1.000 chr9 132585058 rs2296793 G A 2544.84 PASS BaseQRankSum=0.386;DP=200;Dels=0.00;FS=1.104;HRun=0;HaplotypeScore=5.3371;MQ=54;MQ0=0;MQRankSum=-0.847;QD=12.72;ReadPosRankSum=-0.692;SB=-1673.58;TI=NM_000113;GI=TOR1A;FC=Synonymous_A82A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,108:200:99:2575,0,2227:54:99:0.540 chr9 132988709 rs2277200 T G 6543.95 PASS BaseQRankSum=1.542;DP=255;Dels=0.00;FS=3.278;HRun=3;HaplotypeScore=9.3046;MQ=52;MQ0=0;MQRankSum=-0.958;QD=25.66;ReadPosRankSum=1.528;SB=-4574.20;TI=NM_014286,NM_001128826;GI=NCS1,NCS1;FC=Synonymous_G172G,Synonymous_G154G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,254:255:99:6544,433,0:52:99:0.996 chr9 133346226 rs10901072 C T 1702.96 PASS BaseQRankSum=-0.327;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4620;MQ=53;MQ0=0;MQRankSum=2.388;QD=10.08;ReadPosRankSum=1.092;SB=-1122.70;TI=NM_000050,NM_054012;GI=ASS1,ASS1;FC=Synonymous_H167H,Synonymous_H167H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,76:169:99:1733,0,2104:53:99:0.450 chr9 133884820 rs3739512 T G 773.11 PASS BaseQRankSum=-0.629;DP=99;Dels=0.00;FS=0.837;HRun=0;HaplotypeScore=7.2087;MQ=57;MQ0=0;MQRankSum=1.829;QD=7.81;ReadPosRankSum=-0.891;SB=-418.83;TI=NM_006059;GI=LAMC3;FC=Missense_H73Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,36:99:99:803,0,1638:57:99:0.364 chr9 133911598 rs2275132 A G 2184.52 PASS BaseQRankSum=1.483;DP=150;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.8287;MQ=57;MQ0=0;MQRankSum=-0.345;QD=14.56;ReadPosRankSum=2.282;SB=-1324.26;TI=NM_006059;GI=LAMC3;FC=Synonymous_A285A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,82:150:99:2215,0,1809:57:99:0.554 chr9 133927878 rs10901333 A G 1427.15 PASS BaseQRankSum=1.014;DP=139;Dels=0.00;FS=1.361;HRun=1;HaplotypeScore=5.6517;MQ=54;MQ0=0;MQRankSum=0.500;QD=10.27;ReadPosRankSum=0.420;SB=-967.08;TI=NM_006059;GI=LAMC3;FC=Unknown_544;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,66:139:99:1457,0,1835:54:99:0.475 chr9 133928345 rs12349966 C T 768.29 PASS BaseQRankSum=0.123;DP=70;Dels=0.00;FS=14.276;HRun=0;HaplotypeScore=1.9996;MQ=54;MQ0=0;MQRankSum=0.570;QD=10.98;ReadPosRankSum=-0.229;SB=-518.55;TI=NM_006059;GI=LAMC3;FC=Synonymous_S644S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,34:70:99:798,0,1010:54:99:0.486 chr9 133936571 rs3739510 C G 721.40 PASS BaseQRankSum=1.529;DP=52;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.6109;MQ=54;MQ0=0;MQRankSum=1.990;QD=13.87;ReadPosRankSum=1.253;SB=-346.66;TI=NM_006059;GI=LAMC3;FC=Missense_R770G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,29:52:99:751,0,572:54:99:0.558 chr9 133948049 rs2275140 A G 785.38 PASS BaseQRankSum=0.623;DP=78;Dels=0.00;FS=1.942;HRun=1;HaplotypeScore=4.4704;MQ=55;MQ0=0;MQRankSum=-0.942;QD=10.07;ReadPosRankSum=-2.826;SB=-464.71;TI=NM_006059;GI=LAMC3;FC=Missense_S1082G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,33:78:99:815,0,951:55:99:0.429 chr9 133951230 rs3818800 C T 2751.70 PASS BaseQRankSum=1.045;DP=224;Dels=0.00;FS=0.499;HRun=0;HaplotypeScore=15.5937;MQ=53;MQ0=0;MQRankSum=2.691;QD=12.28;ReadPosRankSum=2.230;SB=-1690.59;TI=NM_006059;GI=LAMC3;FC=Synonymous_T1169T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,114:224:99:2782,0,2556:53:99:0.516 chr9 134385190 . A G 1329.44 PASS BaseQRankSum=0.548;DP=102;Dels=0.00;FS=1.640;HRun=1;HaplotypeScore=9.9912;MQ=55;MQ0=0;MQRankSum=-0.371;QD=13.03;ReadPosRankSum=-1.202;SB=-836.70;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Synonymous_A200A,Synonymous_A200A,Synonymous_A83A,Synonymous_A200A,Synonymous_A146A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,54:102:99:1359,0,1210:55:99:0.535 chr9 134385436 rs2296949 A G 3654.62 PASS DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5377;MQ=54;MQ0=0;QD=27.27;SB=-2406.50;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Missense_Q251R,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:134:99:3655,262,0:54:99:1.000 chr9 134386744 rs10901065 T C 1176.99 PASS DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=51;MQ0=0;QD=28.02;SB=-674.60;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Synonymous_T314T,Synonymous_T292T,Synonymous_T175T,Synonymous_T292T,Synonymous_T238T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:87.29:1210,87,0:51:87:1.000 chr9 134387488 rs3739494 T C 3409.92 PASS DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6182;MQ=53;MQ0=0;QD=27.72;SB=-2418.84;TI=NM_007171,NM_001077365,NM_001136114,NM_001136113,NM_001077366;GI=POMT1,POMT1,POMT1,POMT1,POMT1;FC=Synonymous_D371D,Synonymous_D349D,Synonymous_D232D,Synonymous_D349D,Synonymous_D295D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:3410,244,0:53:99:1.000 chr9 135139901 rs1056899 T C 1795.43 PASS BaseQRankSum=2.463;DP=166;Dels=0.00;FS=7.621;HRun=0;HaplotypeScore=2.8653;MQ=58;MQ0=0;MQRankSum=1.424;QD=10.82;ReadPosRankSum=2.615;SB=-811.64;TI=NM_015046;GI=SETX;FC=Missense_I2587V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,66:166:99:1825,0,3099:58:99:0.398 chr9 135152543 rs34769225 TA T 329.14 R8 BaseQRankSum=-0.633;DP=90;FS=0.000;HRun=12;HaplotypeScore=198.9097;MQ=54;MQ0=0;MQRankSum=2.281;QD=3.66;ReadPosRankSum=-0.243;SB=-144.62;TI=NM_015046;GI=SETX;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,20:90:99:368,0,1140:54:99:0.274 chr9 135202829 rs543573 T C 9377.57 PASS DP=281;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4425;MQ=56;MQ0=0;QD=33.37;SB=-3819.20;TI=NM_015046;GI=SETX;FC=Missense_I1386V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,280:281:99:9378,692,0:56:99:1.000 chr9 135203231 rs1183768 C T 7842.91 PASS DP=265;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=4.4430;MQ=56;MQ0=0;QD=29.60;SB=-5082.00;TI=NM_015046;GI=SETX;FC=Missense_G1252R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,265:265:99:7843,560,0:56:99:1.000 chr9 135203409 rs1185193 A C 4903.03 PASS BaseQRankSum=1.684;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3304;MQ=57;MQ0=0;MQRankSum=-0.217;QD=34.05;ReadPosRankSum=-1.660;SB=-2608.48;TI=NM_015046;GI=SETX;FC=Missense_D1192E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,143:144:99:4903,367,0:57:99:0.993 chr9 135206460 rs9411449 A G 3965.22 PASS BaseQRankSum=-0.573;DP=131;Dels=0.00;FS=3.072;HRun=0;HaplotypeScore=8.4694;MQ=56;MQ0=0;MQRankSum=1.849;QD=30.27;ReadPosRankSum=-0.103;SB=-1396.17;TI=NM_015046;GI=SETX;FC=Synonymous_Y359Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,129:131:99:3965,253,0:56:99:0.985 chr9 135772717 rs4962081 G A 1576.63 PASS BaseQRankSum=-1.246;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9566;MQ=55;MQ0=0;MQRankSum=-1.723;QD=14.87;ReadPosRankSum=-0.579;SB=-950.88;TI=NM_000368,NM_001162426,NM_001162427;GI=TSC1,TSC1,TSC1;FC=Synonymous_A943A,Synonymous_A942A,Synonymous_A892A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,59:106:99:1607,0,1370:55:99:0.557 chr9 135773000 . G A 82.91 LowVariantFreq;SB BaseQRankSum=2.033;DP=35;Dels=0.00;FS=9.132;HRun=18;HaplotypeScore=43.6415;MQ=50;MQ0=0;MQRankSum=0.276;QD=2.37;ReadPosRankSum=-0.828;SB=-0.01;TI=NM_000368,NM_001162426,NM_001162427;GI=TSC1,TSC1,TSC1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,5:35:99:113,0,526:50:83:0.152 chr9 135773000 rs5901000 G GAA 350.37 R8 BaseQRankSum=0.565;DP=35;FS=0.000;HRun=18;HaplotypeScore=177.7916;MQ=50;MQ0=0;MQRankSum=-0.027;QD=10.01;ReadPosRankSum=-1.373;SB=-82.02;TI=NM_000368,NM_001162426,NM_001162427;GI=TSC1,TSC1,TSC1;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,14:35:73.29:389,0,73:50:73:0.538 chr9 135862092 . C A 970.12 PASS BaseQRankSum=-0.350;DP=104;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=1.677;QD=9.33;ReadPosRankSum=0.462;SB=-587.89;TI=NM_001135031,NM_004188;GI=GFI1B,GFI1B;FC=Missense_S9R,Missense_S9R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,43:104:99:1000,0,1498:51:99:0.413 chr9 135944524 rs4962092 C T 71.81 LowVariantFreq BaseQRankSum=0.612;DP=46;Dels=0.00;FS=2.021;HRun=0;HaplotypeScore=2.7776;MQ=25;MQ0=19;MQRankSum=0.671;QD=1.56;ReadPosRankSum=-1.254;SB=-15.97;TI=NM_001807;GI=CEL;FC=Synonymous_T391T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,9:46:99:102,0,465:25:72:0.196 chr9 135946599 rs488087 C T 1595.88 PASS BaseQRankSum=-1.285;DP=131;Dels=0.00;FS=2.952;HRun=0;HaplotypeScore=36.8232;MQ=52;MQ0=0;MQRankSum=2.454;QD=12.18;ReadPosRankSum=1.779;SB=-516.20;TI=NM_001807;GI=CEL;FC=Synonymous_P573P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,65:131:99:1626,0,1802:52:99:0.500 chr9 135946737 . G C 17.92 SB BaseQRankSum=-0.579;DP=26;Dels=0.00;FS=5.441;HRun=3;HaplotypeScore=25.3996;MQ=32;MQ0=6;MQRankSum=-0.964;QD=0.69;ReadPosRankSum=-0.733;SB=-3.63;TI=NM_001807;GI=CEL;FC=Synonymous_P619P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,8:26:47.85:48,0,208:32:18:0.308 chr9 135946770 . G C 37.53 SB BaseQRankSum=-1.653;DP=21;Dels=0.00;FS=3.979;HRun=3;HaplotypeScore=11.9364;MQ=22;MQ0=6;MQRankSum=1.408;QD=1.79;ReadPosRankSum=-1.531;SB=0.00;TI=NM_001807;GI=CEL;FC=Synonymous_P630P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,5:21:67.52:68,0,101:22:38:0.238 chr9 135946849 . T G 21.26 LowVariantFreq;SB BaseQRankSum=2.251;DP=24;Dels=0.00;FS=3.522;HRun=0;HaplotypeScore=4.4250;MQ=29;MQ0=5;MQRankSum=1.066;QD=0.89;ReadPosRankSum=-0.829;SB=-0.01;TI=NM_001807;GI=CEL;FC=Missense_S657A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,3:24:51.22:51,0,252:29:21:0.130 chr9 135946855 . G C 48.65 SB BaseQRankSum=0.786;DP=25;Dels=0.00;FS=13.424;HRun=8;HaplotypeScore=5.8930;MQ=29;MQ0=5;MQRankSum=0.524;QD=1.95;ReadPosRankSum=0.175;SB=-0.01;TI=NM_001807;GI=CEL;FC=Missense_A659P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,5:25:78.64:79,0,274:29:49:0.200 chr9 135946953 . C G 59.19 PASS BaseQRankSum=0.070;DP=22;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=34.9489;MQ=39;MQ0=0;MQRankSum=-0.705;QD=2.69;ReadPosRankSum=-0.282;SB=-53.03;TI=NM_001807;GI=CEL;FC=Synonymous_G691G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,7:22:89.19:89,0,395:39:59:0.318 chr9 135946954 . G GC 350.98 PASS BaseQRankSum=-2.750;DP=21;FS=5.927;HRun=8;HaplotypeScore=212.3638;MQ=39;MQ0=0;MQRankSum=-0.050;QD=16.71;ReadPosRankSum=-1.150;SB=-177.79;TI=NM_001807;GI=CEL;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,13:19:39.58:390,0,40:39:40:0.650 chr9 135974079 rs1062356 G C 2784.80 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=53;MQ0=0;QD=26.27;SB=-1842.15;TI=NM_006266,NM_001042368;GI=RALGDS,RALGDS;FC=Synonymous_L880L,Synonymous_L825L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2818,199,0:53:99:1.000 chr9 135974100 rs886017 G A 1266.46 PASS BaseQRankSum=0.172;DP=117;Dels=0.00;FS=0.685;HRun=0;HaplotypeScore=1.7608;MQ=54;MQ0=0;MQRankSum=1.170;QD=10.82;ReadPosRankSum=-0.183;SB=-938.38;TI=NM_006266,NM_001042368;GI=RALGDS,RALGDS;FC=Synonymous_T873T,Synonymous_T818T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,57:117:99:1296,0,1281:54:99:0.487 chr9 135982088 rs2073822 A C 1269.87 PASS BaseQRankSum=-0.128;DP=134;Dels=0.00;FS=4.204;HRun=1;HaplotypeScore=10.9340;MQ=51;MQ0=0;MQRankSum=0.546;QD=9.48;ReadPosRankSum=0.541;SB=-678.43;TI=NM_006266,NM_001042368;GI=RALGDS,RALGDS;FC=Synonymous_S487S,Synonymous_S432S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,58:134:99:1300,0,1812:51:99:0.433 chr9 135982142 . C T 983.61 PASS BaseQRankSum=-0.139;DP=102;Dels=0.00;FS=5.003;HRun=0;HaplotypeScore=4.4914;MQ=54;MQ0=0;MQRankSum=1.483;QD=9.64;ReadPosRankSum=-0.361;SB=-627.82;TI=NM_006266,NM_001042368;GI=RALGDS,RALGDS;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,44:102:99:1014,0,1403:54:99:0.431 chr9 135983504 rs2285375 T C 1485.40 PASS BaseQRankSum=-1.942;DP=116;Dels=0.00;FS=0.692;HRun=0;HaplotypeScore=5.3878;MQ=54;MQ0=0;MQRankSum=-0.290;QD=12.81;ReadPosRankSum=-2.423;SB=-948.77;TI=NM_006266,NM_001042368;GI=RALGDS,RALGDS;FC=Synonymous_A356A,Synonymous_A301A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,60:116:99:1515,0,1406:54:99:0.517 chr9 136037742 rs2073924 G A 1265.87 PASS BaseQRankSum=1.562;DP=121;Dels=0.00;FS=0.706;HRun=1;HaplotypeScore=7.8335;MQ=45;MQ0=0;MQRankSum=1.557;QD=10.46;ReadPosRankSum=1.110;SB=-846.43;TI=NM_021996;GI=GBGT1;FC=Missense_L20F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,65:121:99:1296,0,1191:45:99:0.537 chr9 136131056 rs56392308 CG C 2220.31 PASS BaseQRankSum=-6.204;DP=122;FS=0.726;HRun=3;HaplotypeScore=282.5121;MQ=55;MQ0=0;MQRankSum=2.133;QD=18.20;ReadPosRankSum=1.517;SB=-698.04;TI=NM_020469;GI=ABO;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,66:122:99:2259,0,1874:55:99:0.541 chr9 136131188 rs8176749 C T 2382.96 PASS BaseQRankSum=0.702;DP=210;Dels=0.00;FS=1.699;HRun=0;HaplotypeScore=8.4422;MQ=55;MQ0=0;MQRankSum=0.114;QD=11.35;ReadPosRankSum=0.043;SB=-1430.12;TI=NM_020469;GI=ABO;FC=Missense_C310Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,101:210:99:2413,0,2862:55:99:0.481 chr9 136131315 rs8176747 C G 1624.85 PASS BaseQRankSum=0.194;DP=120;Dels=0.00;FS=1.484;HRun=0;HaplotypeScore=9.1338;MQ=56;MQ0=0;MQRankSum=1.072;QD=13.54;ReadPosRankSum=-0.870;SB=-871.76;TI=NM_020469;GI=ABO;FC=Missense_G268R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,57:120:99:1655,0,1691:56:99:0.479 chr9 136131322 rs8176746 G T 1602.57 PASS BaseQRankSum=0.473;DP=120;Dels=0.00;FS=0.685;HRun=0;HaplotypeScore=6.2699;MQ=55;MQ0=0;MQRankSum=0.804;QD=13.35;ReadPosRankSum=-0.862;SB=-893.38;TI=NM_020469;GI=ABO;FC=Synonymous_T265T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,57:120:99:1633,0,1867:55:99:0.475 chr9 136131415 rs8176743 C T 1388.01 PASS BaseQRankSum=-1.083;DP=120;Dels=0.00;FS=3.429;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=1.329;QD=11.57;ReadPosRankSum=-0.174;SB=-799.05;TI=NM_020469;GI=ABO;FC=Synonymous_P234P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,53:120:99:1418,0,1986:56:99:0.445 chr9 136131461 rs8176741 G A 1610.63 PASS BaseQRankSum=1.707;DP=123;Dels=0.00;FS=0.683;HRun=0;HaplotypeScore=3.5215;MQ=56;MQ0=0;MQRankSum=0.782;QD=13.09;ReadPosRankSum=-1.009;SB=-1014.75;TI=NM_020469;GI=ABO;FC=Missense_T219M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,62:123:99:1641,0,1708:56:99:0.504 chr9 136131592 rs7853989 G C 1945.38 PASS BaseQRankSum=0.476;DP=148;Dels=0.00;FS=2.122;HRun=1;HaplotypeScore=14.6947;MQ=56;MQ0=0;MQRankSum=0.689;QD=13.14;ReadPosRankSum=0.592;SB=-1285.45;TI=NM_020469;GI=ABO;FC=Missense_C175W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,82:148:99:1975,0,1655:56:99:0.554 chr9 136131651 rs1053878 G A 1416.35 PASS BaseQRankSum=1.084;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7434;MQ=56;MQ0=0;MQRankSum=-0.335;QD=13.11;ReadPosRankSum=2.190;SB=-669.26;TI=NM_020469;GI=ABO;FC=Missense_R156W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,54:108:99:1446,0,1498:56:99:0.500 chr9 136132873 rs8176720 T C 1525.18 PASS BaseQRankSum=0.008;DP=119;Dels=0.00;FS=1.468;HRun=0;HaplotypeScore=3.7876;MQ=57;MQ0=0;MQRankSum=0.803;QD=12.82;ReadPosRankSum=0.003;SB=-1000.18;TI=NM_020469;GI=ABO;FC=Missense_H99R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,65:119:99:1555,0,1227:57:99:0.546 chr9 136132908 rs8176719 T TC 3998.79 PASS DP=88;FS=0.000;HRun=0;HaplotypeScore=328.0045;MQ=60;MQ0=0;QD=45.44;SB=-1818.05;TI=NM_020469;GI=ABO;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:3999,265,0:60:99:1.000 chr9 136133506 rs512770 A G 3308.31 PASS DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9675;MQ=51;MQ0=0;QD=27.57;SB=-2118.31;TI=NM_020469;GI=ABO;FC=Missense_S74P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:120:99:3308,244,0:51:99:1.000 chr9 136135237 rs549443 A G 3706.21 PASS DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48;MQ0=0;QD=28.95;SB=-2260.47;TI=NM_020469;GI=ABO;FC=Synonymous_H63H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:128:99:3706,283,0:48:99:1.000 chr9 136135238 rs549446 T C 3620.37 PASS DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48;MQ0=0;QD=28.28;SB=-2279.71;TI=NM_020469;GI=ABO;FC=Missense_H63R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:128:99:3620,277,0:48:99:1.000 chr9 136136770 rs688976 A C 4058.65 PASS DP=146;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.80;SB=-2627.26;TI=NM_020469;GI=ABO;FC=Missense_F36V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:4059,292,0:52:99:1.000 chr9 136301982 rs2301612 C G 4039.83 PASS BaseQRankSum=-1.617;DP=151;Dels=0.00;FS=3.485;HRun=1;HaplotypeScore=15.1448;MQ=49;MQ0=0;MQRankSum=-0.241;QD=26.75;ReadPosRankSum=-0.172;SB=-2469.20;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Missense_Q448E,Missense_Q417E,Missense_Q448E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,150:151:99:4040,269,0:49:99:0.993 chr9 136324239 rs1055432 C A 7043.10 PASS DP=232;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8095;MQ=54;MQ0=0;QD=30.36;SB=-3171.49;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Synonymous_T1351T,Synonymous_T1320T,Synonymous_T1407T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,232:232:99:7043,512,0:54:99:1.000 chr9 136412170 rs2073874 C T 504.88 PASS BaseQRankSum=-0.904;DP=37;Dels=0.00;FS=1.309;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.169;QD=13.65;ReadPosRankSum=-1.088;SB=-265.95;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_D258D,Synonymous_D258D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,21:37:99:535,0,452:57:99:0.568 chr9 136412236 rs2073875 A T 910.23 PASS BaseQRankSum=0.118;DP=72;Dels=0.00;FS=0.918;HRun=0;HaplotypeScore=3.5215;MQ=53;MQ0=0;MQRankSum=2.089;QD=12.64;ReadPosRankSum=2.100;SB=-496.74;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_A280A,Synonymous_A280A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,36:72:99:940,0,878:53:99:0.500 chr9 136412255 rs2073876 A C 1072.79 PASS BaseQRankSum=-0.116;DP=80;Dels=0.00;FS=0.861;HRun=1;HaplotypeScore=1.8888;MQ=52;MQ0=0;MQRankSum=2.789;QD=13.41;ReadPosRankSum=0.492;SB=-632.92;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_R287R,Synonymous_R287R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,43:80:99:1103,0,953:52:99:0.538 chr9 136412346 rs2073878 C T 589.81 PASS BaseQRankSum=-0.102;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8926;MQ=56;MQ0=0;MQRankSum=0.256;QD=14.04;ReadPosRankSum=0.026;SB=-337.46;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,25:42:99:620,0,419:56:99:0.595 chr9 136433778 rs11542920 G A 1284.96 PASS BaseQRankSum=0.546;DP=137;Dels=0.00;FS=0.650;HRun=0;HaplotypeScore=6.3287;MQ=48;MQ0=0;MQRankSum=0.511;QD=9.38;ReadPosRankSum=-0.176;SB=-798.32;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_S714S,Synonymous_S714S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,59:137:99:1315,0,1907:48:99:0.431 chr9 136434598 rs1064975 A G 1205.34 PASS BaseQRankSum=1.175;DP=117;Dels=0.00;FS=0.688;HRun=1;HaplotypeScore=5.3371;MQ=53;MQ0=0;MQRankSum=2.281;QD=10.30;ReadPosRankSum=1.055;SB=-839.57;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_V771V,Synonymous_V771V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,59:117:99:1235,0,1330:53:99:0.504 chr9 136434610 rs2301606 C G 1185.24 PASS BaseQRankSum=2.035;DP=121;Dels=0.00;FS=1.466;HRun=0;HaplotypeScore=5.4404;MQ=53;MQ0=0;MQRankSum=2.240;QD=9.80;ReadPosRankSum=0.974;SB=-884.49;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Synonymous_S775S,Synonymous_S775S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,58:121:99:1215,0,1375:53:99:0.483 chr9 136518097 rs77905 A G 3794.33 PASS BaseQRankSum=-0.008;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=54;MQ0=0;MQRankSum=0.434;QD=25.30;ReadPosRankSum=-0.811;SB=-2762.01;TI=NM_000787;GI=DBH;FC=Synonymous_T470T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,148:150:99:3794,226,0:54:99:0.987 chr9 136522187 rs1611131 A G 901.36 PASS BaseQRankSum=1.050;DP=58;Dels=0.00;FS=3.997;HRun=0;HaplotypeScore=4.6543;MQ=55;MQ0=0;MQRankSum=1.675;QD=15.54;ReadPosRankSum=0.377;SB=-448.13;TI=NM_000787;GI=DBH;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,36:58:99:931,0,476:55:99:0.621 chr9 136536679 rs129932 G A 3712.86 PASS BaseQRankSum=1.510;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.9566;MQ=51;MQ0=0;MQRankSum=0.319;QD=29.47;ReadPosRankSum=0.568;SB=-2080.95;TI=NM_001134707,NM_007101;GI=SARDH,SARDH;FC=Synonymous_I768I,Synonymous_I768I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,124:126:99:3713,253,0:51:99:0.992 chr9 136536793 rs2519123 C G 5123.03 PASS BaseQRankSum=-1.551;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6672;MQ=52;MQ0=0;MQRankSum=-0.462;QD=26.82;ReadPosRankSum=-0.027;SB=-3323.92;TI=NM_001134707,NM_007101;GI=SARDH,SARDH;FC=Synonymous_V730V,Synonymous_V730V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,190:191:99:5123,339,0:52:99:0.995 chr9 136555629 rs886016 T C 2148.41 PASS BaseQRankSum=0.646;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1579;MQ=55;MQ0=0;MQRankSum=2.250;QD=12.86;ReadPosRankSum=-1.270;SB=-1370.15;TI=NM_001134707,NM_007101;GI=SARDH,SARDH;FC=Missense_M648V,Missense_M648V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,87:167:99:2178,0,2028:55:99:0.521 chr9 136559460 rs2073817 C T 1759.32 PASS BaseQRankSum=0.495;DP=151;Dels=0.00;FS=1.317;HRun=0;HaplotypeScore=8.1298;MQ=53;MQ0=0;MQRankSum=1.198;QD=11.65;ReadPosRankSum=-0.909;SB=-1128.71;TI=NM_001134707,NM_007101;GI=SARDH,SARDH;FC=Missense_R614H,Missense_R614H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,74:151:99:1789,0,1598:53:99:0.497 chr9 136573412 rs2073815 G A 1188.14 PASS BaseQRankSum=-0.092;DP=106;Dels=0.00;FS=2.584;HRun=0;HaplotypeScore=2.6548;MQ=55;MQ0=0;MQRankSum=1.640;QD=11.21;ReadPosRankSum=-0.395;SB=-748.18;TI=NM_001134707,NM_007101;GI=SARDH,SARDH;FC=Synonymous_H489H,Synonymous_H489H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,52:106:99:1218,0,1288:55:99:0.491 chr9 136599146 rs573904 C T 2614.96 PASS BaseQRankSum=2.324;DP=217;Dels=0.00;FS=1.680;HRun=1;HaplotypeScore=27.4618;MQ=56;MQ0=0;MQRankSum=0.537;QD=12.05;ReadPosRankSum=0.369;SB=-1516.14;TI=NM_001134707,NM_007101;GI=SARDH,SARDH;FC=Synonymous_Q50Q,Synonymous_Q50Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,108:217:99:2645,0,2809:56:99:0.498 chr9 137619195 rs3124299 C T 2645.16 PASS BaseQRankSum=1.246;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=1.488;QD=12.66;ReadPosRankSum=0.056;SB=-1568.83;TI=NM_000093;GI=COL5A1;FC=Synonymous_T246T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,102:209:99:2675,0,2639:54:99:0.488 chr9 137630587 rs3128612 T C 1672.04 PASS BaseQRankSum=0.587;DP=116;Dels=0.00;FS=3.508;HRun=1;HaplotypeScore=6.2929;MQ=53;MQ0=0;MQRankSum=2.929;QD=14.41;ReadPosRankSum=-0.073;SB=-855.96;TI=NM_000093;GI=COL5A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,67:116:99:1702,0,1081:53:99:0.578 chr9 137690318 rs4240707 A T 764.81 PASS BaseQRankSum=1.233;DP=61;Dels=0.00;FS=2.178;HRun=0;HaplotypeScore=1.8939;MQ=54;MQ0=0;MQRankSum=1.623;QD=12.54;ReadPosRankSum=0.613;SB=-397.30;TI=NM_000093;GI=COL5A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,30:61:99:795,0,764:54:99:0.492 chr9 137708934 rs10858282 T G 1540.34 PASS BaseQRankSum=2.215;DP=123;Dels=0.00;FS=0.687;HRun=0;HaplotypeScore=5.2823;MQ=52;MQ0=0;MQRankSum=-0.315;QD=12.52;ReadPosRankSum=0.520;SB=-860.98;TI=NM_000093;GI=COL5A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,62:123:99:1570,0,1356:52:99:0.508 chr9 137772664 rs17514136 A G 1513.44 PASS BaseQRankSum=0.436;DP=144;Dels=0.00;FS=0.620;HRun=1;HaplotypeScore=8.2011;MQ=55;MQ0=0;MQRankSum=2.859;QD=10.51;ReadPosRankSum=0.840;SB=-1043.68;TI=NM_004108,NM_015837;GI=FCN2,FCN2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,69:144:99:1543,0,1843:55:99:0.479 chr9 137775139 rs3128624 A G 1006.34 PASS BaseQRankSum=1.797;DP=99;Dels=0.00;FS=2.605;HRun=2;HaplotypeScore=3.7759;MQ=53;MQ0=0;MQRankSum=1.517;QD=10.17;ReadPosRankSum=-0.627;SB=-749.28;TI=NM_004108,NM_015837;GI=FCN2,FCN2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,47:99:99:1036,0,1214:53:99:0.475 chr9 137775155 rs4520243 T C 858.31 PASS BaseQRankSum=0.178;DP=86;Dels=0.00;FS=0.823;HRun=0;HaplotypeScore=1.6643;MQ=53;MQ0=0;MQRankSum=0.578;QD=9.98;ReadPosRankSum=0.048;SB=-552.35;TI=NM_004108,NM_015837;GI=FCN2,FCN2;FC=Synonymous_R74R,Synonymous_R36R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,38:86:99:888,0,1085:53:99:0.442 chr9 137775212 rs7037264 G A 690.38 PASS BaseQRankSum=-1.537;DP=48;Dels=0.00;FS=2.785;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-0.972;QD=14.38;ReadPosRankSum=0.450;SB=-205.69;TI=NM_004108,NM_015837;GI=FCN2,FCN2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,28:48:99:720,0,479:56:99:0.583 chr9 137779026 rs17549193 C T 1154.80 PASS BaseQRankSum=3.266;DP=84;Dels=0.00;FS=4.366;HRun=0;HaplotypeScore=2.7798;MQ=58;MQ0=0;MQRankSum=1.208;QD=13.75;ReadPosRankSum=-0.447;SB=-424.40;TI=NM_004108,NM_015837;GI=FCN2,FCN2;FC=Missense_T236M,Missense_T198M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,43:84:99:1185,0,888:58:99:0.512 chr9 138586198 rs572335 G A 1135.84 PASS DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=51;MQ0=0;QD=27.70;SB=-692.92;TI=NM_001101677,NM_001012415;GI=SOHLH1,SOHLH1;FC=Silent,Synonymous_P327P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:84.28:1169,84,0:51:84:1.000 chr9 138586309 rs484524 A G 1589.76 PASS DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=25.64;SB=-1197.73;TI=NM_001101677,NM_001012415;GI=SOHLH1,SOHLH1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,62:62:99:1623,114,0:51:99:1.000 chr9 138586966 rs3119932 G A 3422.19 PASS DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3503;MQ=55;MQ0=0;QD=26.32;SB=-2332.08;TI=NM_001101677,NM_001012415;GI=SOHLH1,SOHLH1;FC=Missense_P269S,Missense_P269S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:3422,247,0:55:99:1.000 chr9 138586967 rs3119933;rs67947712 C A 3284.87 PASS BaseQRankSum=1.705;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5048;MQ=55;MQ0=0;MQRankSum=-0.641;QD=25.66;ReadPosRankSum=-1.596;SB=-2210.45;TI=NM_001101677,NM_001012415;GI=SOHLH1,SOHLH1;FC=Synonymous_G268G,Synonymous_G268G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,126:128:99:3285,235,0:55:99:0.992 chr9 138590928 rs471525 C T 2161.19 PASS DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3581;MQ=57;MQ0=0;QD=30.02;SB=-1321.94;TI=NM_001101677,NM_001012415;GI=SOHLH1,SOHLH1;FC=Missense_R37Q,Missense_R37Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:2194,163,0:57:99:1.000 chr9 138591266 rs559326 A G 1799.65 PASS DP=71;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.3070;MQ=55;MQ0=0;QD=25.35;SB=-1285.74;TI=NM_001101677,NM_001012415;GI=SOHLH1,SOHLH1;FC=Synonymous_P16P,Synonymous_P16P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:1833,129,0:55:99:1.000 chr9 139270901 rs61745672 G A 1063.90 PASS BaseQRankSum=0.076;DP=112;Dels=0.00;FS=0.718;HRun=1;HaplotypeScore=3.6821;MQ=55;MQ0=0;MQRankSum=2.252;QD=9.50;ReadPosRankSum=0.698;SB=-738.86;TI=NM_003086;GI=SNAPC4;FC=Synonymous_S1439S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,49:112:99:1094,0,1451:55:99:0.438 chr9 139273402 rs3812567 C T 1956.96 PASS DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=32.08;SB=-1064.95;TI=NM_003086;GI=SNAPC4;FC=Synonymous_A959A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1990,147,0:57:99:1.000 chr9 139276430 rs34850728 G A 3427.97 PASS BaseQRankSum=2.132;DP=273;Dels=0.00;FS=2.026;HRun=0;HaplotypeScore=5.5485;MQ=55;MQ0=0;MQRankSum=2.084;QD=12.56;ReadPosRankSum=-1.558;SB=-2057.60;TI=NM_003086;GI=SNAPC4;FC=Synonymous_H721H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:144,129:273:99:3428,0,3707:55:99:0.473 chr9 139333049 . GCCCT G 4360.69 PASS DP=69;FS=0.000;HRun=0;HaplotypeScore=78.0098;MQ=56;MQ0=0;QD=63.20;SB=-1665.81;TI=NM_019892;GI=INPP5E;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,67:69:99:4361,202,0:56:99:0.985 chr9 139391636 rs2229974 G A 8988.25 PASS BaseQRankSum=-0.184;DP=311;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7666;MQ=55;MQ0=0;MQRankSum=-0.317;QD=28.90;ReadPosRankSum=-0.050;SB=-4873.28;TI=NM_017617;GI=NOTCH1;FC=Synonymous_D2185D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,310:311:99:8988,612,0:55:99:0.997 chr9 139397707 rs10521 G A 701.39 PASS BaseQRankSum=0.393;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3262;MQ=50;MQ0=0;MQRankSum=-0.200;QD=10.47;ReadPosRankSum=-0.753;SB=-421.60;TI=NM_017617;GI=NOTCH1;FC=Synonymous_D1698D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,30:67:99:731,0,913:50:99:0.455 chr9 139402715 rs61751546 G A 2814.49 PASS BaseQRankSum=1.728;DP=170;Dels=0.00;FS=3.699;HRun=0;HaplotypeScore=4.4430;MQ=56;MQ0=0;MQRankSum=2.707;QD=16.56;ReadPosRankSum=0.906;SB=-1592.13;TI=NM_017617;GI=NOTCH1;FC=Synonymous_S1098S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,104:170:99:2844,0,1559:56:99:0.612 chr9 139405261 rs3125001 C T 863.77 PASS BaseQRankSum=-0.823;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8805;MQ=55;MQ0=0;MQRankSum=-0.483;QD=13.93;ReadPosRankSum=-2.343;SB=-382.60;TI=NM_017617;GI=NOTCH1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,35:62:99:894,0,767:55:99:0.565 chr9 139407932 rs2229971 A G 1309.95 PASS BaseQRankSum=1.975;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.0052;MQ=50;MQ0=0;MQRankSum=-0.321;QD=10.08;ReadPosRankSum=0.429;SB=-973.67;TI=NM_017617;GI=NOTCH1;FC=Synonymous_N755N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,63:130:99:1340,0,1603:50:99:0.485 chr9 139410424 rs3125006 A G 2455.42 PASS BaseQRankSum=0.761;DP=186;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.5446;MQ=52;MQ0=0;MQRankSum=2.591;QD=13.20;ReadPosRankSum=-1.602;SB=-1518.11;TI=NM_017617;GI=NOTCH1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,103:186:99:2485,0,1823:52:99:0.557 chr9 139412197 rs9411208 G A 615.88 PASS BaseQRankSum=1.062;DP=62;Dels=0.00;FS=1.017;HRun=1;HaplotypeScore=5.2000;MQ=56;MQ0=0;MQRankSum=0.689;QD=9.93;ReadPosRankSum=-0.847;SB=-283.81;TI=NM_017617;GI=NOTCH1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,25:62:99:646,0,918:56:99:0.403 chr9 139413908 rs2229975 C T 1453.45 PASS BaseQRankSum=3.789;DP=94;Dels=0.00;FS=1.882;HRun=0;HaplotypeScore=4.6540;MQ=54;MQ0=0;MQRankSum=-0.046;QD=15.46;ReadPosRankSum=-0.762;SB=-480.69;TI=NM_017617;GI=NOTCH1;FC=Synonymous_P284P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,53:94:99:1483,0,956:54:99:0.564 chr9 139418260 rs4489420 A G 1255.97 PASS BaseQRankSum=2.297;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2310;MQ=52;MQ0=0;MQRankSum=2.105;QD=9.89;ReadPosRankSum=-0.231;SB=-818.10;TI=NM_017617;GI=NOTCH1;FC=Synonymous_N104N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,55:127:99:1286,0,1621:52:99:0.437 chr9 139726239 rs2811748 A G 2328.82 PASS DP=94;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.5764;MQ=50;MQ0=0;QD=24.77;SB=-1661.92;TI=NM_001173989,NM_001173988,NM_024718;GI=C9orf86,C9orf86,C9orf86;FC=Synonymous_G175G,Synonymous_G175G,Synonymous_G175G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:94:99:2362,169,0:50:99:1.000 chr9 139731969 rs2811742 C T 2876.24 PASS BaseQRankSum=2.198;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=33.1007;MQ=52;MQ0=4;MQRankSum=-0.462;QD=31.26;ReadPosRankSum=0.042;SB=-599.00;TI=NM_001173988,NM_024718;GI=C9orf86,C9orf86;FC=Synonymous_A328A,Synonymous_A327A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:6,86:92:99:2909,232,0:52:99:0.935 chr9 139732331 rs2811741 G C 1982.00 PASS DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6611;MQ=55;MQ0=0;QD=28.72;SB=-1136.62;TI=NM_001173988,NM_024718;GI=C9orf86,C9orf86;FC=Missense_E383Q,Missense_E382Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:2015,147,0:55:99:1.000 chr9 139732462 rs2811740 C T 911.01 PASS BaseQRankSum=0.483;DP=75;Dels=0.00;FS=3.291;HRun=0;HaplotypeScore=8.6728;MQ=56;MQ0=0;MQRankSum=1.437;QD=12.15;ReadPosRankSum=-1.025;SB=-578.78;TI=NM_001173988,NM_024718;GI=C9orf86,C9orf86;FC=Synonymous_S426S,Synonymous_S425S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,40:75:99:941,0,842:56:99:0.541 chr9 139733747 . G A 1256.03 PASS BaseQRankSum=0.751;DP=109;Dels=0.00;FS=3.635;HRun=0;HaplotypeScore=4.7872;MQ=53;MQ0=0;MQRankSum=1.013;QD=11.52;ReadPosRankSum=0.508;SB=-563.87;TI=NM_001173988,NM_024718;GI=C9orf86,C9orf86;FC=Missense_G524S,Missense_G523S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,50:109:99:1286,0,1471:53:99:0.459 chr9 139734293 . G A 1204.79 PASS BaseQRankSum=-0.869;DP=108;Dels=0.00;FS=0.789;HRun=0;HaplotypeScore=3.5926;MQ=56;MQ0=0;MQRankSum=-1.271;QD=11.16;ReadPosRankSum=-0.603;SB=-481.18;TI=NM_001173988,NM_024718;GI=C9orf86,C9orf86;FC=Missense_G637R,Missense_G636R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,48:108:99:1235,0,1623:56:99:0.444 chr9 139872048 rs4880179 A G 4083.38 PASS DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3171;MQ=55;MQ0=0;QD=27.41;SB=-2516.73;TI=NM_000954;GI=PTGDS;FC=Synonymous_T6T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:149:99:4083,292,0:55:99:1.000 chr9 139904037 rs7048567 A G 3224.61 PASS DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2735;MQ=51;MQ0=0;QD=31.93;SB=-1467.27;TI=NM_001606,NM_212533;GI=ABCA2,ABCA2;FC=Missense_L2232S,Missense_L2262S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:3257,247,0:51:99:1.000 chr9 139905141 . G A 1879.26 PASS BaseQRankSum=0.946;DP=138;Dels=0.00;FS=3.314;HRun=0;HaplotypeScore=10.7988;MQ=48;MQ0=0;MQRankSum=-0.016;QD=13.62;ReadPosRankSum=0.355;SB=-1339.79;TI=NM_001606,NM_212533;GI=ABCA2,ABCA2;FC=Missense_P2037L,Missense_P2067L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,87:138:99:1909,0,1067:48:99:0.635 chr9 139906359 rs2271862 G A 7887.34 PASS BaseQRankSum=0.872;DP=278;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9001;MQ=54;MQ0=0;MQRankSum=-0.636;QD=28.37;ReadPosRankSum=-0.536;SB=-4766.66;TI=NM_001606,NM_212533;GI=ABCA2,ABCA2;FC=Missense_T1826I,Missense_T1856I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,277:278:99:7887,538,0:54:99:0.996 chr9 139908464 . C A 2107.05 PASS BaseQRankSum=1.571;DP=138;Dels=0.00;FS=3.436;HRun=1;HaplotypeScore=5.3026;MQ=57;MQ0=0;MQRankSum=1.298;QD=15.27;ReadPosRankSum=-1.025;SB=-653.00;TI=NM_001606,NM_212533;GI=ABCA2,ABCA2;FC=Synonymous_G1424G,Synonymous_G1454G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,72:138:99:2137,0,1719:57:99:0.522 chr9 139910837 . T G 958.74 PASS BaseQRankSum=0.521;DP=87;Dels=0.00;FS=0.829;HRun=1;HaplotypeScore=1.8600;MQ=58;MQ0=0;MQRankSum=0.745;QD=11.02;ReadPosRankSum=0.694;SB=-545.06;TI=NM_001606,NM_212533;GI=ABCA2,ABCA2;FC=Synonymous_T1005T,Synonymous_T1035T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,36:87:99:989,0,1267:58:99:0.414 chr9 139911983 rs12348881 T G 2122.86 PASS DP=81;Dels=0.02;FS=0.000;HRun=1;HaplotypeScore=4.8658;MQ=58;MQ0=0;QD=26.21;SB=-1177.83;TI=NM_001606,NM_212533;GI=ABCA2,ABCA2;FC=Missense_Q793P,Missense_Q823P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:79:99:2156,156,0:58:99:1.000 chr9 139912484 rs908832 A G 5980.98 PASS DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0629;MQ=53;MQ0=0;QD=31.48;SB=-3590.76;TI=NM_001606,NM_212533;GI=ABCA2,ABCA2;FC=Missense_M681T,Missense_M711T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,189:190:99:5981,445,0:53:99:1.000 chr9 139913239 rs908828 T G 4543.51 PASS DP=144;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.3537;MQ=52;MQ0=0;QD=31.55;SB=-1314.53;TI=NM_001606,NM_212533;GI=ABCA2,ABCA2;FC=Missense_T586P,Missense_T616P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:144:99:4544,343,0:52:99:1.000 chr9 139916833 rs35590326 T G 2969.56 PASS BaseQRankSum=1.776;DP=216;Dels=0.00;FS=8.743;HRun=1;HaplotypeScore=17.4683;MQ=55;MQ0=0;MQRankSum=1.430;QD=13.75;ReadPosRankSum=-0.714;SB=-889.10;TI=NM_001606,NM_212533;GI=ABCA2,ABCA2;FC=Missense_H181P,Missense_H211P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,112:216:99:3000,0,2553:55:99:0.521 chr9 139923265 rs4880189 A G 3916.89 PASS DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2065;MQ=58;MQ0=0;QD=29.90;SB=-2374.31;TI=NM_212533,NM_207511;GI=ABCA2,C9orf139;FC=Synonymous_A20A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3917,292,0:58:99:1.000 chr9 139925927 rs1139444 G C 1099.74 PASS BaseQRankSum=0.255;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.7581;MQ=58;MQ0=0;MQRankSum=-0.965;QD=14.10;ReadPosRankSum=-1.335;SB=-532.87;TI=NM_207511,NM_004479;GI=C9orf139,FUT7;FC=Silent,Synonymous_A88A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,38:78:99:1130,0,1021:58:99:0.487 chr9 139925983 . G A 1609.94 PASS BaseQRankSum=1.359;DP=114;Dels=0.00;FS=0.715;HRun=0;HaplotypeScore=6.3154;MQ=55;MQ0=0;MQRankSum=0.332;QD=14.12;ReadPosRankSum=-1.189;SB=-853.11;TI=NM_207511,NM_004479;GI=C9orf139,FUT7;FC=Silent,Missense_R70C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,60:114:99:1640,0,1492:55:99:0.526 chr9 139981627 rs968733 A G 3751.51 PASS DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2406;MQ=55;MQ0=0;QD=28.42;SB=-1790.71;TI=NM_016219;GI=MAN1B1;FC=Missense_N59S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:132:99:3752,274,0:55:99:1.000 chr9 140001978 rs12115325 C A 686.89 PASS BaseQRankSum=2.224;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8665;MQ=57;MQ0=0;MQRankSum=1.363;QD=11.08;ReadPosRankSum=1.478;SB=-278.46;TI=NM_016219;GI=MAN1B1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,25:62:99:717,0,1002:57:99:0.403 chr9 140002989 rs4880091 T C 3821.09 PASS BaseQRankSum=1.705;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2243;MQ=53;MQ0=0;MQRankSum=1.652;QD=29.62;ReadPosRankSum=0.926;SB=-2345.87;TI=NM_016219;GI=MAN1B1;FC=Synonymous_D682D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,128:129:99:3821,277,0:53:99:0.992 chr9 140003427 rs4567 A G 2203.10 PASS BaseQRankSum=0.028;DP=177;Dels=0.00;FS=2.712;HRun=1;HaplotypeScore=15.3248;MQ=50;MQ0=0;MQRankSum=2.472;QD=12.45;ReadPosRankSum=1.097;SB=-1066.45;TI=NM_016219;GI=MAN1B1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,87:177:99:2233,0,2185:50:99:0.497 chr9 140003640 rs7853336 G A 1343.58 PASS BaseQRankSum=1.179;DP=88;Dels=0.00;FS=3.011;HRun=1;HaplotypeScore=7.2046;MQ=54;MQ0=0;MQRankSum=1.932;QD=15.27;ReadPosRankSum=1.322;SB=-505.14 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,47:88:99:1374,0,972:54:99:0.534 chr9 140055876 rs10747050 G A 1646.32 PASS BaseQRankSum=2.235;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=24.5693;MQ=49;MQ0=0;MQRankSum=1.985;QD=24.94;ReadPosRankSum=1.985;SB=-772.56;TI=NM_001185091,NM_001185090,NM_007327,NM_000832,NM_021569;GI=GRIN1,GRIN1,GRIN1,GRIN1,GRIN1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,62:66:99:1679,114,0:49:99:0.954 chr9 140058266 . C T 922.75 PASS BaseQRankSum=-0.080;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.6837;MQ=57;MQ0=0;MQRankSum=0.742;QD=12.14;ReadPosRankSum=-1.606;SB=-469.39;TI=NM_001185091,NM_001185090,NM_007327,NM_000832,NM_021569;GI=GRIN1,GRIN1,GRIN1,GRIN1,GRIN1;FC=Synonymous_I854I,Synonymous_I854I,Synonymous_I833I,Synonymous_I833I,Synonymous_I833I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,42:76:99:953,0,897:57:99:0.560 chr9 140094605 rs9411313 C A 11.01 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=11.01;SB=-0.01;TI=NM_001128228;GI=TPRN;FC=Missense_A187S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:41,3,0:60:3:1.000 chr9 140100224 rs7032361 A G 708.36 PASS BaseQRankSum=0.785;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=54;MQ0=0;MQRankSum=0.471;QD=10.57;ReadPosRankSum=1.713;SB=-546.63;TI=NM_014434,NM_001144028,NM_001144026,NM_001144027;GI=NDOR1,NDOR1,NDOR1,NDOR1;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,35:67:99:738,0,818:54:99:0.522 chr9 140109477 rs55980756 T C 2055.94 PASS BaseQRankSum=1.097;DP=149;Dels=0.00;FS=0.611;HRun=0;HaplotypeScore=6.4569;MQ=57;MQ0=0;MQRankSum=0.891;QD=13.80;ReadPosRankSum=0.215;SB=-1168.06;TI=NM_014434,NM_001144028,NM_001144026,NM_001144027;GI=NDOR1,NDOR1,NDOR1,NDOR1;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,78:149:99:2086,0,2005:57:99:0.523 chr9 140110238 rs76182525 T C 1941.12 PASS BaseQRankSum=2.254;DP=151;Dels=0.00;FS=13.392;HRun=0;HaplotypeScore=4.5210;MQ=55;MQ0=0;MQRankSum=1.590;QD=12.86;ReadPosRankSum=1.665;SB=-982.72;TI=NM_014434,NM_001144028,NM_001144026,NM_001144027;GI=NDOR1,NDOR1,NDOR1,NDOR1;FC=Synonymous_R472R,Synonymous_R465R,Synonymous_R472R,Synonymous_R438R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,71:151:99:1971,0,2330:55:99:0.470 chr9 140128085 rs28407527 T C 1749.70 PASS BaseQRankSum=2.043;DP=143;Dels=0.00;FS=1.332;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=1.265;QD=12.24;ReadPosRankSum=0.885;SB=-1113.24;TI=NM_001177317,NM_001177316,NM_080877;GI=SLC34A3,SLC34A3,SLC34A3;FC=Synonymous_L253L,Synonymous_L253L,Synonymous_L253L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,77:143:99:1780,0,1414:51:99:0.538 chr9 140128707 . G A 350.35 PASS BaseQRankSum=-0.494;DP=36;Dels=0.00;FS=1.387;HRun=0;HaplotypeScore=2.7605;MQ=55;MQ0=0;MQRankSum=0.296;QD=9.73;ReadPosRankSum=0.099;SB=-144.38;TI=NM_001177317,NM_001177316,NM_080877;GI=SLC34A3,SLC34A3,SLC34A3;FC=Missense_V358M,Missense_V358M,Missense_V358M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,13:36:99:380,0,604:55:99:0.361 chr9 140128858 rs35535797 T A 1260.18 PASS BaseQRankSum=1.587;DP=78;Dels=0.00;FS=5.004;HRun=1;HaplotypeScore=5.4167;MQ=56;MQ0=0;MQRankSum=0.344;QD=16.16;ReadPosRankSum=-0.447;SB=-611.48;TI=NM_001177317,NM_001177316,NM_080877;GI=SLC34A3,SLC34A3,SLC34A3;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,48:78:99:1290,0,835:56:99:0.615 chr9 140130606 rs28542318 A T 2092.69 PASS DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6567;MQ=57;MQ0=0;QD=30.77;SB=-1072.65;TI=NM_001177317,NM_001177316,NM_080877;GI=SLC34A3,SLC34A3,SLC34A3;FC=Missense_E513V,Missense_E513V,Missense_E513V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:2126,162,0:57:99:1.000 chr9 140611436 rs3812497 T C 160.97 SB;LowDP BaseQRankSum=-0.597;DP=16;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.922;QD=10.06;ReadPosRankSum=-0.922;SB=-0.01;TI=NM_001145527,NM_024757;GI=EHMT1,EHMT1;FC=Synonymous_P148P,Synonymous_P148P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,6:16:99:191,0,319:60:99:0.375 chr9 140638416 rs1129767 G A 604.34 PASS BaseQRankSum=-0.741;DP=68;Dels=0.00;FS=3.371;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=1.414;QD=8.89;ReadPosRankSum=-0.280;SB=-375.80;TI=NM_001145527,NM_024757;GI=EHMT1,EHMT1;FC=Synonymous_S348S,Synonymous_S348S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,28:68:99:634,0,959:54:99:0.412 chr9 140638461 rs1129768 T C 503.17 PASS BaseQRankSum=0.156;DP=50;Dels=0.00;FS=1.088;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-1.012;QD=10.06;ReadPosRankSum=0.564;SB=-296.83;TI=NM_001145527,NM_024757;GI=EHMT1,EHMT1;FC=Synonymous_G363G,Synonymous_G363G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,23:50:99:533,0,710:56:99:0.460 chr10 294953 rs1017361 A G 2261.92 PASS DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4430;MQ=56;MQ0=0;QD=30.99;SB=-1059.46;TI=NM_212479,NM_001161482,NM_006624;GI=ZMYND11,ZMYND11,ZMYND11;FC=Synonymous_E536E,Synonymous_E537E,Synonymous_E537E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2295,169,0:56:99:1.000 chr10 323283 rs3740304 A G 2534.69 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=54;MQ0=0;QD=26.96;SB=-1389.54;TI=NM_014974;GI=DIP2C;FC=Synonymous_Y1551Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2568,184,0:54:99:1.000 chr10 395266 rs4880611 T C 2201.40 PASS DP=84;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7997;MQ=54;MQ0=0;QD=26.21;SB=-1390.79;TI=NM_014974;GI=DIP2C;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2234,157,0:54:99:1.000 chr10 429977 rs10904083 G A 1187.11 PASS DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=41;MQ0=0;QD=26.98;SB=-711.89;TI=NM_014974;GI=DIP2C;FC=Synonymous_G622G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:93.29:1220,93,0:41:93:1.000 chr10 445061 rs6560837 C T 2095.83 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3358;MQ=51;MQ0=0;QD=27.22;SB=-1125.92;TI=NM_014974;GI=DIP2C;FC=Synonymous_P416P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:77:99:2129,154,0:51:99:1.000 chr10 459940 rs4881274 G A 4924.93 PASS DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3865;MQ=54;MQ0=0;QD=28.63;SB=-2723.52;TI=NM_014974;GI=DIP2C;FC=Synonymous_L324L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,171:172:99:4925,358,0:54:99:1.000 chr10 3818894 . CAA C,CA 808.66 R8 BaseQRankSum=1.025;DP=65;FS=0.000;HaplotypeScore=152.0695;MQ=52;MQ0=0;MQRankSum=-1.333;QD=12.44;ReadPosRankSum=0.379;SB=-248.69;TI=NM_001300,NM_001160125,NR_027653,NM_001160124;GI=KLF6,KLF6,KLF6,KLF6;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:28,8,3:64:99:887,549,679,167,0,110:52:99:0.282 chr10 3819209 rs7005 C T 3470.30 PASS BaseQRankSum=2.902;DP=113;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=9.0667;MQ=54;MQ0=0;MQRankSum=0.902;QD=30.71;ReadPosRankSum=1.509;SB=-1872.37;TI=NM_001300,NM_001160125,NR_027653,NM_001160124;GI=KLF6,KLF6,KLF6,KLF6;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,110:113:99:3470,262,0:54:99:0.973 chr10 3820113 . G GTTT,GTT 5014.18 PASS BaseQRankSum=3.548;DP=157;FS=2.590;HaplotypeScore=615.7742;MQ=59;MQ0=0;MQRankSum=0.329;QD=31.94;ReadPosRankSum=4.385;SB=-1845.55;TI=NM_001300,NM_001160125,NR_027653,NM_001160124;GI=KLF6,KLF6,KLF6,KLF6;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:20,5,128:157:70.48:5014,693,326,436,0,70:59:70:0.869 chr10 3820114 rs72769402 G T 4556.68 PASS BaseQRankSum=0.663;DP=151;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=142.9442;MQ=60;MQ0=0;MQRankSum=1.058;QD=30.18;ReadPosRankSum=1.686;SB=-1829.28;TI=NM_001300,NM_001160125,NR_027653,NM_001160124;GI=KLF6,KLF6,KLF6,KLF6;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,148:151:99:4557,310,0:60:99:0.993 chr10 5041398 rs3207909;rs56259037 T C 511.10 PASS BaseQRankSum=0.417;DP=144;Dels=0.00;FS=1.302;HRun=0;HaplotypeScore=0.9983;MQ=17;MQ0=94;MQRankSum=-2.146;QD=3.55;ReadPosRankSum=0.748;SB=-199.95;TI=NM_001354,NM_205845;GI=AKR1C2,AKR1C2;FC=Synonymous_T147T,Synonymous_T147T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,92:144:99:541,0,654:17:99:0.639 chr10 5042784 rs13945 G A 414.82 PASS BaseQRankSum=0.088;DP=39;Dels=0.00;FS=3.360;HRun=1;HaplotypeScore=0.9998;MQ=54;MQ0=1;MQRankSum=-0.029;QD=10.64;ReadPosRankSum=-1.468;SB=-65.90;TI=NM_001354,NM_205845,NM_001135241;GI=AKR1C2,AKR1C2,AKR1C2;FC=Synonymous_D109D,Synonymous_D109D,Synonymous_D109D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,18:39:99:445,0,611:54:99:0.462 chr10 5138607 rs7741 G A 2650.14 PASS BaseQRankSum=1.619;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.4463;MQ=54;MQ0=0;MQRankSum=-0.979;QD=28.81;ReadPosRankSum=-1.017;SB=-1384.15;TI=NM_003739;GI=AKR1C3;FC=Synonymous_P30P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,91:92:99:2683,171,0:54:99:0.989 chr10 5139685 rs12387 G A 4895.16 PASS DP=166;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.4641;MQ=54;MQ0=0;QD=29.49;SB=-2919.69;TI=NM_003739;GI=AKR1C3;FC=Synonymous_K104K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,166:166:99:4895,355,0:54:99:1.000 chr10 5149703 rs3209896 G A 2368.11 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5356;MQ=53;MQ0=0;QD=26.61;SB=-1607.38;TI=NM_003739;GI=AKR1C3;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2401,172,0:53:99:1.000 chr10 5255025 rs4880718 A G 4472.60 PASS DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0426;MQ=56;MQ0=1;QD=27.95;SB=-2885.73;TI=NM_001818;GI=AKR1C4;FC=Missense_Q250R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,160:160:99:4473,328,0:56:99:1.000 chr10 5951025 rs595923 T C 2024.02 PASS BaseQRankSum=2.469;DP=183;Dels=0.00;FS=14.421;HRun=1;HaplotypeScore=14.8411;MQ=56;MQ0=0;MQRankSum=-0.348;QD=11.06;ReadPosRankSum=0.666;SB=-1406.92;TI=NM_178150,NM_032807;GI=FBXO18,FBXO18;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,87:183:99:2054,0,2377:56:99:0.481 chr10 5978411 rs646406 T C 3413.11 PASS BaseQRankSum=1.367;DP=231;Dels=0.00;FS=3.777;HRun=1;HaplotypeScore=9.8568;MQ=53;MQ0=0;MQRankSum=1.411;QD=14.78;ReadPosRankSum=0.297;SB=-2332.95;TI=NM_178150,NM_032807;GI=FBXO18,FBXO18;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,139:231:99:3413,0,2005:53:99:0.602 chr10 6067969 rs2228150 C T 386.89 PASS BaseQRankSum=-0.694;DP=34;Dels=0.00;FS=1.402;HRun=0;HaplotypeScore=4.5747;MQ=57;MQ0=0;MQRankSum=1.318;QD=11.38;ReadPosRankSum=-1.110;SB=-205.79;TI=NM_000417;GI=IL2RA;FC=Synonymous_P28P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,15:34:99:417,0,533:57:99:0.441 chr10 13151224 rs2234968 G A 726.63 PASS BaseQRankSum=-1.336;DP=61;Dels=0.00;FS=4.090;HRun=0;HaplotypeScore=5.5485;MQ=55;MQ0=0;MQRankSum=1.365;QD=11.91;ReadPosRankSum=0.397;SB=-384.24;TI=NM_001008212,NM_001008211,NM_001008213,NM_021980;GI=OPTN,OPTN,OPTN,OPTN;FC=Synonymous_T34T,Synonymous_T34T,Synonymous_T34T,Synonymous_T34T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,32:61:99:757,0,764:55:99:0.525 chr10 13158262 rs2244380 C T 2842.74 PASS DP=105;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=27.07;SB=-1982.94;TI=NM_001008212,NM_001008211,NM_001008213,NM_021980;GI=OPTN,OPTN,OPTN,OPTN;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:2876,205,0:54:99:1.000 chr10 13166076 rs523747 A G 4771.55 PASS DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7879;MQ=54;MQ0=0;QD=28.57;SB=-3002.78;TI=NM_001008212,NM_001008211,NM_001008213,NM_021980;GI=OPTN,OPTN,OPTN,OPTN;FC=Missense_K322E,Missense_K322E,Missense_K322E,Missense_K322E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:167:99:4772,343,0:54:99:1.000 chr10 13337588 rs1747682 G A 3327.39 PASS DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6557;MQ=54;MQ0=0;QD=26.62;SB=-2140.03;TI=NM_001037537,NM_006214;GI=PHYH,PHYH;FC=Silent,Synonymous_N51N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3327,235,0:54:99:1.000 chr10 14974843 rs35927251 G A 747.57 PASS BaseQRankSum=0.479;DP=50;Dels=0.00;FS=1.186;HRun=0;HaplotypeScore=3.7528;MQ=55;MQ0=0;MQRankSum=-1.885;QD=14.95;ReadPosRankSum=-2.076;SB=-349.44;TI=NM_022487,NM_001033858,NM_001033855,NM_001033857;GI=DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,30:50:99:778,0,477:55:99:0.625 chr10 14974905 rs12768894 T C 1633.29 PASS BaseQRankSum=0.265;DP=120;Dels=0.00;FS=1.506;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=1;MQRankSum=-1.567;QD=13.61;ReadPosRankSum=3.062;SB=-892.09;TI=NM_022487,NM_001033858,NM_001033855,NM_001033857;GI=DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C;FC=Missense_H128R,Missense_H123R,Missense_H243R,Missense_H123R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,67:120:99:1663,0,1334:50:99:0.558 chr10 14976414 rs7076862;rs75553163 G A 475.18 PASS BaseQRankSum=0.342;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.5398;MQ=45;MQ0=0;MQRankSum=0.886;QD=5.34;ReadPosRankSum=-1.195;SB=-264.27;TI=NM_022487,NM_001033858,NM_001033855,NM_001033857;GI=DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C;FC=Synonymous_L100L,Synonymous_L95L,Synonymous_L215L,Synonymous_L95L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,23:89:99:505,0,1531:45:99:0.258 chr10 15177280 rs17156338 T C 1820.45 PASS BaseQRankSum=0.493;DP=144;Dels=0.00;FS=3.964;HRun=0;HaplotypeScore=2.6548;MQ=51;MQ0=0;MQRankSum=-3.982;QD=12.64;ReadPosRankSum=0.334;SB=-1016.78;TI=NM_004808;GI=NMT2;FC=Synonymous_P128P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,72:144:99:1850,0,1877:51:99:0.500 chr10 16882518 rs703064;rs56059527 T C 797.50 PASS BaseQRankSum=-1.537;DP=80;Dels=0.00;FS=0.878;HRun=0;HaplotypeScore=1.9995;MQ=53;MQ0=2;MQRankSum=-0.789;QD=9.97;ReadPosRankSum=-1.315;SB=-408.33;TI=NM_001081;GI=CUBN;FC=Synonymous_T3281T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,35:80:99:827,0,1192:53:99:0.438 chr10 16943371 rs2796835 G C 2216.59 PASS DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5928;MQ=51;MQ0=0;QD=26.08;SB=-1250.25;TI=NM_001081;GI=CUBN;FC=Missense_S2717W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2250,163,0:51:99:1.000 chr10 16967401 rs1276712 C T 4484.98 PASS DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2983;MQ=57;MQ0=2;QD=30.72;SB=-2425.71;TI=NM_001081;GI=CUBN;FC=Missense_C2162Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:4485,331,0:57:99:1.000 chr10 16979661 rs1801234 T C 1306.00 PASS BaseQRankSum=3.126;DP=137;Dels=0.00;FS=0.644;HRun=3;HaplotypeScore=7.5753;MQ=53;MQ0=0;MQRankSum=2.148;QD=9.53;ReadPosRankSum=1.148;SB=-967.30;TI=NM_001081;GI=CUBN;FC=Synonymous_S1952S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,64:137:99:1336,0,1452:53:99:0.474 chr10 16982244 rs2271463 G T 214.46 PASS BaseQRankSum=1.397;DP=26;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=60;MQ0=0;MQRankSum=0.132;QD=8.25;ReadPosRankSum=0.553;SB=-129.49;TI=NM_001081;GI=CUBN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,10:26:99:244,0,368:60:99:0.385 chr10 17024503 rs1801231 G A 995.77 PASS BaseQRankSum=1.258;DP=113;Dels=0.00;FS=5.977;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.107;QD=8.81;ReadPosRankSum=0.706;SB=-760.80;TI=NM_001081;GI=CUBN;FC=Missense_P1559S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,48:113:99:1026,0,1600:54:99:0.425 chr10 17024615 rs1801229 A T 469.43 PASS BaseQRankSum=0.180;DP=67;Dels=0.00;FS=3.682;HRun=0;HaplotypeScore=1.8939;MQ=57;MQ0=0;MQRankSum=-1.756;QD=7.01;ReadPosRankSum=0.781;SB=-196.47;TI=NM_001081;GI=CUBN;FC=Synonymous_I1521I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,22:67:99:499,0,1171:57:99:0.328 chr10 17110595 rs10795440 G A 4351.11 PASS DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.0150;MQ=54;MQ0=0;QD=29.40;SB=-2569.51;TI=NM_001081;GI=CUBN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,147:148:99:4351,322,0:54:99:1.000 chr10 17113563 rs1801225 C T 1791.76 PASS DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5937;MQ=57;MQ0=0;QD=27.57;SB=-1137.34;TI=NM_001081;GI=CUBN;FC=Synonymous_S829S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:1825,132,0:57:99:1.000 chr10 17147521 rs1801224 G T 3090.78 PASS DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=54;MQ0=0;QD=26.19;SB=-2152.86;TI=NM_001081;GI=CUBN;FC=Missense_P389T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,118:118:99:3124,223,0:54:99:1.000 chr10 17156151 rs1801222 A G 1887.19 PASS DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7815;MQ=49;MQ0=0;QD=27.35;SB=-1158.67;TI=NM_001081;GI=CUBN;FC=Missense_F253S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:1920,138,0:49:99:1.000 chr10 17891705 rs1926736;rs34039386 A G 2710.54 PASS BaseQRankSum=2.177;DP=272;Dels=0.00;FS=0.447;HRun=1;HaplotypeScore=7.4546;MQ=49;MQ0=2;MQRankSum=1.972;QD=9.97;ReadPosRankSum=-0.158;SB=-1852.86;TI=NM_002438,NM_001009567;GI=MRC1,MRC1L1;FC=Missense_S396G,Missense_S396G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:140,132:272:99:2741,0,3152:49:99:0.485 chr10 18439811 . G T 23.51 LowVariantFreq;SB BaseQRankSum=0.953;DP=20;Dels=0.00;FS=9.622;HRun=1;HaplotypeScore=15.1683;MQ=43;MQ0=0;MQRankSum=-0.529;QD=1.18;ReadPosRankSum=-1.059;SB=-0.01;TI=NM_201596,NM_201597,NM_201593,NM_201572,NM_001167945,NM_201571;GI=CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,3:20:53.48:53,0,279:43:24:0.150 chr10 18828663 rs4747352 G T 135.87 LowGQ;SB;LowDP DP=6;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.4591;MQ=36;MQ0=0;QD=22.65;SB=-0.01;TI=NM_201596,NM_201597,NM_201593,NM_201572,NM_001167945,NM_201571,NM_000724,NM_201590,NM_201570;GI=CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:15.04:169,15,0:36:15:1.000 chr10 21108377 rs1006363 C T 2239.08 PASS DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6717;MQ=54;MQ0=0;QD=28.71;SB=-942.58;TI=NM_006393,NM_213569,NM_001173484;GI=NEBL,NEBL,NEBL;FC=Synonymous_R677R,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2272,166,0:54:99:1.000 chr10 21141469 rs703089 T C 1734.14 PASS DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6421;MQ=53;MQ0=0;QD=27.53;SB=-944.23;TI=NM_006393,NM_213569,NM_001173484;GI=NEBL,NEBL,NEBL;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1767,129,0:53:99:1.000 chr10 21461410 . GA G 229.15 R8 BaseQRankSum=3.478;DP=87;FS=2.973;HRun=14;HaplotypeScore=215.5830;MQ=51;MQ0=0;MQRankSum=0.871;QD=2.63;ReadPosRankSum=0.598;SB=-101.76;TI=NM_213569,NM_001173484;GI=NEBL,NEBL;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,16:87:99:268,0,1020:51:99:0.216 chr10 22839628 rs10828317 T C 1024.30 PASS BaseQRankSum=1.115;DP=84;Dels=0.00;FS=0.822;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=0.425;QD=12.19;ReadPosRankSum=2.046;SB=-592.93;TI=NM_005028;GI=PIP4K2A;FC=Missense_N251S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,40:84:99:1054,0,1038:54:99:0.476 chr10 23482635 rs7918487 T C 868.34 PASS BaseQRankSum=-1.949;DP=78;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=8.1898;MQ=57;MQ0=0;MQRankSum=0.291;QD=11.13;ReadPosRankSum=1.065;SB=-151.76;TI=NM_178161;GI=PTF1A;FC=Missense_S263P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,35:78:99:898,0,1254:57:99:0.449 chr10 26355992 rs3824699 A G 1657.96 PASS DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=54;MQ0=0;QD=26.32;SB=-1086.92;TI=NM_017433;GI=MYO3A;FC=Missense_I348V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1691,120,0:54:99:1.000 chr10 26357748 rs3817420 G A 3070.91 PASS DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;QD=27.92;SB=-2100.45;TI=NM_017433;GI=MYO3A;FC=Missense_V369I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:3104,223,0:50:99:1.000 chr10 26463130 rs1999240 C A 4859.69 PASS DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3509;MQ=56;MQ0=0;QD=30.76;SB=-1995.17;TI=NM_017433;GI=MYO3A;FC=Missense_R1313S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,157:158:99:4860,355,0:56:99:1.000 chr10 27333121 . TA T 70.18 LowVariantFreq;R8 BaseQRankSum=-1.261;DP=55;FS=1.320;HRun=12;HaplotypeScore=129.2930;MQ=55;MQ0=0;MQRankSum=0.581;QD=1.28;ReadPosRankSum=-0.493;SB=-25.63;TI=NM_014915;GI=ANKRD26;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,8:55:99:109,0,890:55:70:0.163 chr10 27389197 rs7897309 T C 1494.62 PASS DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6532;MQ=56;MQ0=0;QD=31.14;SB=-448.01;TI=NM_014915;GI=ANKRD26;FC=Missense_Q20R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:99:1528,117,0:56:99:1.000 chr10 27459670 rs1981296 C T 7719.54 PASS DP=252;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6495;MQ=56;MQ0=0;QD=30.63;SB=-4168.70;TI=NM_032844,NM_001172304,NM_001172303;GI=MASTL,MASTL,MASTL;FC=Synonymous_I594I,Synonymous_I594I,Synonymous_I594I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,252:252:99:7720,560,0:56:99:1.000 chr10 27475444 rs10741130 T C 2941.95 PASS BaseQRankSum=1.701;DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=1.639;QD=25.81;ReadPosRankSum=0.526;SB=-1928.60;TI=NM_032844,NM_001172304,NM_001172303;GI=MASTL,MASTL,MASTL;FC=Synonymous_T872T,Synonymous_T834T,Synonymous_T873T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,111:114:99:2975,211,0:56:99:0.991 chr10 27484746 rs788231 T C 2614.67 PASS DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=58;MQ0=0;QD=30.05;SB=-1336.10;TI=NM_145698,NM_001042473,NR_024150;GI=ACBD5,ACBD5,ACBD5;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2648,196,0:58:99:1.000 chr10 27485478 rs66697989 CGT C 7693.53 PASS BaseQRankSum=0.549;DP=164;FS=0.000;HRun=0;HaplotypeScore=54.4190;MQ=59;MQ0=0;MQRankSum=0.269;QD=46.91;ReadPosRankSum=-0.549;SB=-3247.20;TI=NM_145698,NM_001042473,NR_024150;GI=ACBD5,ACBD5,ACBD5;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,162:162:99:7694,436,0:59:99:0.988 chr10 27508758 rs10764690 T C 882.67 PASS BaseQRankSum=0.351;DP=65;Dels=0.00;FS=5.551;HRun=0;HaplotypeScore=2.7840;MQ=54;MQ0=0;MQRankSum=0.656;QD=13.58;ReadPosRankSum=-0.788;SB=-450.76;TI=NM_145698,NM_001042473,NR_024150;GI=ACBD5,ACBD5,ACBD5;FC=Synonymous_P173P,Synonymous_P138P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,37:65:99:913,0,792:54:99:0.569 chr10 27687225 rs2505323 A G 1965.83 PASS BaseQRankSum=0.693;DP=110;Dels=0.00;FS=1.977;HRun=1;HaplotypeScore=1.8100;MQ=55;MQ0=0;MQRankSum=-0.289;QD=17.87;ReadPosRankSum=-1.420;SB=-491.05;TI=NM_001034842;GI=PTCHD3;FC=Missense_X768Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,70:110:99:1996,0,1142:55:99:0.636 chr10 27687775 rs1638630 T C 7696.90 PASS DP=254;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;QD=30.30;SB=-4114.83;TI=NM_001034842;GI=PTCHD3;FC=Missense_I584M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,254:254:99:7697,554,0:56:99:1.000 chr10 27687965 rs2505327 A G 3233.06 PASS BaseQRankSum=3.687;DP=243;Dels=0.00;FS=2.259;HRun=0;HaplotypeScore=11.0543;MQ=55;MQ0=0;MQRankSum=1.686;QD=13.30;ReadPosRankSum=-0.508;SB=-1482.89;TI=NM_001034842;GI=PTCHD3;FC=Missense_M521T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,124:243:99:3264,0,2997:55:99:0.510 chr10 27687994 rs2484173 A G 3331.68 PASS BaseQRankSum=0.942;DP=251;Dels=0.00;FS=2.874;HRun=1;HaplotypeScore=5.5482;MQ=54;MQ0=0;MQRankSum=2.259;QD=13.27;ReadPosRankSum=0.653;SB=-1583.59;TI=NM_001034842;GI=PTCHD3;FC=Synonymous_S511S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,129:251:99:3332,0,2799:54:99:0.516 chr10 27688109 rs2429485 T C 2359.07 PASS BaseQRankSum=-0.510;DP=193;Dels=0.00;FS=2.528;HRun=1;HaplotypeScore=25.7733;MQ=48;MQ0=0;MQRankSum=1.039;QD=12.22;ReadPosRankSum=2.348;SB=-1476.35;TI=NM_001034842;GI=PTCHD3;FC=Missense_D473G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,99:193:99:2389,0,2204:48:99:0.518 chr10 27702169 rs6482625 C T 4486.49 PASS BaseQRankSum=4.418;DP=319;Dels=0.00;FS=2.463;HRun=0;HaplotypeScore=8.2305;MQ=55;MQ0=0;MQRankSum=1.084;QD=14.06;ReadPosRankSum=-1.507;SB=-2986.38;TI=NM_001034842;GI=PTCHD3;FC=Synonymous_V337V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,178:319:99:4486,0,3397:55:99:0.558 chr10 27702688 rs7087552 C T 3285.36 PASS BaseQRankSum=2.117;DP=229;Dels=0.00;FS=1.615;HRun=1;HaplotypeScore=3.7394;MQ=55;MQ0=0;MQRankSum=2.497;QD=14.35;ReadPosRankSum=-1.755;SB=-2052.08;TI=NM_001034842;GI=PTCHD3;FC=Synonymous_E164E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,129:229:99:3285,0,2490:55:99:0.563 chr10 27702725 rs6482626 A G 2751.71 PASS BaseQRankSum=2.394;DP=216;Dels=0.00;FS=0.503;HRun=1;HaplotypeScore=6.2546;MQ=56;MQ0=0;MQRankSum=2.608;QD=12.74;ReadPosRankSum=2.001;SB=-1876.90;TI=NM_001034842;GI=PTCHD3;FC=Missense_L152P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,116:216:99:2782,0,2380:56:99:0.537 chr10 27702726 rs11015753 G A 2366.03 PASS BaseQRankSum=1.807;DP=216;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2546;MQ=56;MQ0=0;MQRankSum=1.086;QD=10.95;ReadPosRankSum=-2.169;SB=-1551.28;TI=NM_001034842;GI=PTCHD3;FC=Synonymous_L152L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,100:216:99:2396,0,2692:56:99:0.463 chr10 27702744 rs11015754 A G 2201.14 PASS BaseQRankSum=0.791;DP=207;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=8.0644;MQ=56;MQ0=0;MQRankSum=-0.270;QD=10.63;ReadPosRankSum=-1.458;SB=-1355.49;TI=NM_001034842;GI=PTCHD3;FC=Synonymous_L146L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,91:207:99:2231,0,2814:56:99:0.440 chr10 27827541 rs2763306;rs56527804 A G 5374.24 PASS DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6546;MQ=58;MQ0=0;QD=35.83;SB=-2025.91;TI=NM_021252;GI=RAB18;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:5374,406,0:58:99:1.000 chr10 27830273 . CTT C,CT 2144.75 R8 BaseQRankSum=-0.761;DP=123;FS=2.714;HaplotypeScore=389.3691;MQ=54;MQ0=1;MQRankSum=0.173;QD=17.44;ReadPosRankSum=0.285;SB=-917.65 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:20,22,1:122:99:2223,1316,1518,484,0,360:54:99:0.535 chr10 27830433 rs11015861 G A 1499.20 PASS BaseQRankSum=1.296;DP=125;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.4588;MQ=55;MQ0=0;MQRankSum=0.102;QD=11.99;ReadPosRankSum=-0.260;SB=-750.87 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,57:125:99:1529,0,1691:55:99:0.456 chr10 27830564 . CT C 824.45 R8 BaseQRankSum=-1.252;DP=90;FS=2.067;HRun=13;HaplotypeScore=418.2040;MQ=50;MQ0=0;MQRankSum=-0.064;QD=9.16;ReadPosRankSum=-2.023;SB=-263.61 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,32:89:99:863,0,557:50:99:0.421 chr10 27830783 rs3832657 G GT 6240.36 PASS DP=145;FS=0.000;HRun=2;HaplotypeScore=495.0481;MQ=53;MQ0=0;QD=43.04;SB=-2905.03 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:11,130:145:99:6240,429,0:53:99:0.922 chr10 28378758 rs2997211 T C 2429.87 PASS DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.59;SB=-1382.36;TI=NM_173496;GI=MPP7;FC=Missense_K322R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2463,178,0:55:99:1.000 chr10 30316208 rs2185724 T C 1276.95 PASS DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=36.48;SB=-541.57;TI=NM_020848;GI=KIAA1462;FC=Missense_R957G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:35:99:1310,99,0:58:99:1.000 chr10 30316872 rs3739996 T C 1980.56 PASS DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=36.68;SB=-820.83;TI=NM_020848;GI=KIAA1462;FC=Synonymous_A735A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:2014,153,0:58:99:1.000 chr10 30317826 rs7920682 A G 392.96 LowDP DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=35.72;SB=-195.89;TI=NM_020848;GI=KIAA1462;FC=Synonymous_Y417Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,11:11:33.10:426,33,0:56:33:1.000 chr10 30317838 rs7920686 A G 317.12 LowGQ;LowDP DP=9;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=35.24;SB=-113.98;TI=NM_020848;GI=KIAA1462;FC=Synonymous_P413P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,9:9:27.09:350,27,0:55:27:1.000 chr10 30318345 rs11813359 C T 340.60 PASS BaseQRankSum=0.612;DP=34;Dels=0.00;FS=6.100;HRun=0;HaplotypeScore=2.7829;MQ=57;MQ0=0;MQRankSum=-1.067;QD=10.02;ReadPosRankSum=-0.682;SB=-50.56;TI=NM_020848;GI=KIAA1462;FC=Synonymous_T244T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,14:34:99:371,0,575:57:99:0.412 chr10 32311969 rs176924 A G 1230.60 PASS DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=30.01;SB=-659.17;TI=NM_004521;GI=KIF5B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:93.30:1264,93,0:56:93:1.000 chr10 43595968 rs1800858 A G 4514.78 PASS DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7581;MQ=54;MQ0=0;QD=28.22;SB=-2340.46;TI=NM_020630,NM_020975;GI=RET,RET;FC=Synonymous_A45A,Synonymous_A45A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,159:160:99:4515,325,0:54:99:1.000 chr10 43596179 rs2435351 G A 1791.70 PASS BaseQRankSum=-0.859;DP=123;Dels=0.00;FS=0.794;HRun=1;HaplotypeScore=13.5114;MQ=52;MQ0=0;MQRankSum=2.718;QD=14.57;ReadPosRankSum=2.009;SB=-524.25;TI=NM_020630,NM_020975;GI=RET,RET;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,65:123:99:1822,0,1449:52:99:0.528 chr10 43606687 rs1800860 A G 1355.38 PASS BaseQRankSum=1.470;DP=131;Dels=0.00;FS=0.804;HRun=0;HaplotypeScore=8.3364;MQ=57;MQ0=0;MQRankSum=0.793;QD=10.35;ReadPosRankSum=-0.877;SB=-380.19;TI=NM_020630,NM_020975;GI=RET,RET;FC=Synonymous_A432A,Synonymous_A432A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,52:131:99:1385,0,2327:57:99:0.397 chr10 43613843 rs1800861 G T 1061.23 PASS BaseQRankSum=0.452;DP=119;Dels=0.00;FS=0.701;HRun=1;HaplotypeScore=1.7608;MQ=54;MQ0=0;MQRankSum=1.465;QD=8.92;ReadPosRankSum=-0.929;SB=-638.67;TI=NM_020630,NM_020975;GI=RET,RET;FC=Synonymous_L769L,Synonymous_L769L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,48:119:99:1091,0,1530:54:99:0.403 chr10 43615094 rs1800862 C T 2139.67 PASS BaseQRankSum=-0.842;DP=212;Dels=0.00;FS=1.703;HRun=1;HaplotypeScore=17.0446;MQ=55;MQ0=0;MQRankSum=1.773;QD=10.09;ReadPosRankSum=-2.111;SB=-1392.04;TI=NM_020630,NM_020975;GI=RET,RET;FC=Synonymous_S836S,Synonymous_S836S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,94:212:99:2170,0,2726:55:99:0.448 chr10 45869748 rs4987105 C T 489.82 PASS BaseQRankSum=0.249;DP=55;Dels=0.00;FS=2.436;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=0.232;QD=8.91;ReadPosRankSum=-0.507;SB=-331.61;TI=NM_000698;GI=ALOX5;FC=Synonymous_T7T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,22:55:99:520,0,787:55:99:0.400 chr10 45939617 rs2229136 A G 2109.71 PASS BaseQRankSum=0.054;DP=164;Dels=0.00;FS=2.764;HRun=0;HaplotypeScore=2.8213;MQ=54;MQ0=0;MQRankSum=1.826;QD=12.86;ReadPosRankSum=-0.061;SB=-1305.12;TI=NM_000698;GI=ALOX5;FC=Synonymous_P576P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,86:164:99:2140,0,1940:54:99:0.524 chr10 48390041 rs2376635 C T 2748.72 PASS BaseQRankSum=1.359;DP=221;Dels=0.00;FS=1.040;HRun=0;HaplotypeScore=15.7173;MQ=55;MQ0=0;MQRankSum=1.779;QD=12.44;ReadPosRankSum=0.383;SB=-1650.85;TI=NM_002900;GI=RBP3;FC=Synonymous_T279T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,104:221:99:2779,0,3048:55:99:0.473 chr10 49933974 rs7072606 T C 3570.66 PASS BaseQRankSum=4.197;DP=263;Dels=0.00;FS=0.950;HRun=1;HaplotypeScore=9.8076;MQ=56;MQ0=0;MQRankSum=3.127;QD=13.58;ReadPosRankSum=-0.077;SB=-2328.58;TI=NM_020945;GI=WDFY4;FC=Missense_S214P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,139:263:99:3571,0,2963:56:99:0.529 chr10 49998824 rs10857644 C T 1232.72 PASS BaseQRankSum=1.330;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6437;MQ=55;MQ0=0;MQRankSum=-0.336;QD=11.31;ReadPosRankSum=-1.185;SB=-858.61;TI=NM_020945;GI=WDFY4;FC=Synonymous_G1373G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,55:109:99:1263,0,1295:55:99:0.505 chr10 50013402 rs2170132 T C 369.56 PASS BaseQRankSum=0.879;DP=63;Dels=0.00;FS=2.403;HRun=2;HaplotypeScore=3.6796;MQ=56;MQ0=0;MQRankSum=1.071;QD=5.87;ReadPosRankSum=1.262;SB=-248.21;TI=NM_020945;GI=WDFY4;FC=Missense_S1528P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,20:63:99:400,0,1070:56:99:0.317 chr10 50025396 rs7097397 G A 1976.35 PASS BaseQRankSum=0.358;DP=176;Dels=0.00;FS=2.632;HRun=1;HaplotypeScore=11.2254;MQ=52;MQ0=0;MQRankSum=0.885;QD=11.23;ReadPosRankSum=0.494;SB=-1480.53;TI=NM_020945;GI=WDFY4;FC=Missense_R1816Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,89:176:99:2006,0,2083:52:99:0.506 chr10 50038800 rs3747874 A G 467.83 PASS BaseQRankSum=0.352;DP=41;Dels=0.00;FS=2.755;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=1.317;QD=11.41;ReadPosRankSum=0.039;SB=-352.39;TI=NM_020945;GI=WDFY4;FC=Synonymous_Q2132Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,21:41:99:498,0,492:56:99:0.512 chr10 50040722 rs12761517 C A 2505.59 PASS BaseQRankSum=2.927;DP=180;Dels=0.00;FS=4.617;HRun=0;HaplotypeScore=9.2408;MQ=55;MQ0=0;MQRankSum=1.377;QD=13.92;ReadPosRankSum=1.354;SB=-996.02;TI=NM_020945;GI=WDFY4;FC=Synonymous_R2211R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,97:180:99:2536,0,1980:55:99:0.539 chr10 50109895 rs35423873 A C 1810.05 PASS BaseQRankSum=-0.468;DP=155;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.6464;MQ=52;MQ0=0;MQRankSum=2.798;QD=11.68;ReadPosRankSum=-1.905;SB=-866.62;TI=NM_020945;GI=WDFY4;FC=Missense_T2525P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,73:155:99:1840,0,2031:52:99:0.471 chr10 50109902 rs2663046 G A 4490.28 PASS DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8857;MQ=51;MQ0=0;QD=29.54;SB=-2108.73;TI=NM_020945;GI=WDFY4;FC=Missense_S2527N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,152:152:99:4490,325,0:51:99:1.000 chr10 50184949 rs2271565 C T 2356.82 PASS BaseQRankSum=0.757;DP=213;Dels=0.00;FS=9.000;HRun=1;HaplotypeScore=6.5652;MQ=54;MQ0=0;MQRankSum=0.246;QD=11.06;ReadPosRankSum=-0.533;SB=-1347.13;TI=NM_020945;GI=WDFY4;FC=Synonymous_C3072C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,100:213:99:2387,0,2429:54:99:0.472 chr10 50186415 rs2292584 C T 2806.50 PASS BaseQRankSum=0.781;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3363;MQ=56;MQ0=0;MQRankSum=-0.381;QD=26.48;ReadPosRankSum=-0.419;SB=-1630.53;TI=NM_020945;GI=WDFY4;FC=Missense_P3118L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,103:106:99:2840,132,0:56:99:0.972 chr10 50678317 rs4253211 C G 832.27 PASS BaseQRankSum=0.273;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=-0.079;QD=15.41;ReadPosRankSum=1.312;SB=-310.54;TI=NM_000124;GI=ERCC6;FC=Missense_R1230P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,32:54:99:862,0,604:58:99:0.593 chr10 50701156 rs4253132 G A 5981.63 PASS DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6725;MQ=56;MQ0=0;QD=29.32;SB=-3584.87;TI=NM_000124;GI=ERCC6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,204:204:99:5982,433,0:56:99:1.000 chr10 50732280 rs2228528 C T 3747.27 PASS BaseQRankSum=0.243;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7865;MQ=57;MQ0=0;MQRankSum=-0.638;QD=32.87;ReadPosRankSum=0.972;SB=-2060.10;TI=NM_000124,NM_170753;GI=ERCC6,PGBD3;FC=Missense_G399D,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,113:114:99:3747,248,0:57:99:0.991 chr10 50740600 rs4253013 C T 880.71 PASS BaseQRankSum=-0.514;DP=58;Dels=0.00;FS=4.344;HRun=0;HaplotypeScore=6.5208;MQ=57;MQ0=0;MQRankSum=1.481;QD=15.18;ReadPosRankSum=-0.530;SB=-344.41;TI=NM_000124;GI=ERCC6;FC=Synonymous_L137L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,31:58:99:911,0,816:57:99:0.534 chr10 50822226 rs7923716 T G 447.11 SB;LowDP DP=14;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.5929;MQ=51;MQ0=0;QD=31.94;SB=-0.01;TI=NM_020984,NM_020986,NM_020985,NM_001142934,NM_020549,NM_001142929,NM_001142933;GI=CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,14:14:39.12:480,39,0:51:39:1.000 chr10 50824117 rs1880676 G A 694.95 PASS BaseQRankSum=2.262;DP=80;Dels=0.00;FS=9.721;HRun=1;HaplotypeScore=2.6548;MQ=53;MQ0=0;MQRankSum=1.402;QD=8.69;ReadPosRankSum=2.173;SB=-281.64;TI=NM_020984,NM_020986,NM_020985,NM_001142934,NM_020549,NM_001142929,NM_001142933;GI=CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT;FC=Silent,Silent,Silent,Silent,Silent,Silent,Missense_D7N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,31:80:99:725,0,1205:53:99:0.388 chr10 50824619 rs3810950 G A 1658.39 PASS BaseQRankSum=-0.096;DP=162;Dels=0.00;FS=4.694;HRun=0;HaplotypeScore=4.6544;MQ=53;MQ0=0;MQRankSum=-0.982;QD=10.24;ReadPosRankSum=0.695;SB=-1089.82;TI=NM_020984,NM_020986,NM_020985,NM_001142934,NM_020549,NM_001142929,NM_001142933;GI=CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT;FC=Missense_A2T,Missense_A2T,Missense_A2T,Missense_A2T,Missense_A120T,Missense_A2T,Missense_A38T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,70:162:99:1688,0,2175:53:99:0.432 chr10 50856652 rs4838544 G A 3070.35 PASS DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1261;MQ=53;MQ0=0;QD=25.17;SB=-2235.16;TI=NM_020984,NM_020986,NM_020985,NM_001142934,NM_020549,NM_001142929,NM_001142933;GI=CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT;FC=Unknown_343,Unknown_343,Unknown_343,Unknown_343,Unknown_461,Unknown_343,Unknown_379;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3103,220,0:53:99:1.000 chr10 50863147 rs8178992 T C 635.55 PASS BaseQRankSum=0.488;DP=45;Dels=0.00;FS=1.223;HRun=1;HaplotypeScore=2.8934;MQ=56;MQ0=0;MQRankSum=2.032;QD=14.12;ReadPosRankSum=1.896;SB=-225.43;TI=NM_020984,NM_020986,NM_020985,NM_001142934,NM_020549,NM_001142929,NM_001142933;GI=CHAT,CHAT,CHAT,CHAT,CHAT,CHAT,CHAT;FC=Synonymous_H429H,Synonymous_H429H,Synonymous_H429H,Synonymous_H429H,Synonymous_H547H,Synonymous_H429H,Synonymous_H465H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,23:45:99:666,0,482:56:99:0.511 chr10 52002980 rs3739979 T G 1172.50 PASS BaseQRankSum=1.564;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7878;MQ=55;MQ0=0;MQRankSum=2.068;QD=11.84;ReadPosRankSum=2.411;SB=-811.12;TI=NM_019893,NM_001143974;GI=ASAH2,ASAH2;FC=Synonymous_S164S,Synonymous_S164S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,50:99:99:1202,0,1055:55:99:0.505 chr10 52005153 rs7097319 A G 784.81 PASS BaseQRankSum=-1.159;DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1944;MQ=51;MQ0=0;MQRankSum=1.422;QD=6.82;ReadPosRankSum=-0.078;SB=-427.96;TI=NM_019893,NM_001143974;GI=ASAH2,ASAH2;FC=Synonymous_A63A,Synonymous_A63A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,39:115:99:815,0,1890:51:99:0.342 chr10 54528266 rs930507 G C 3489.60 PASS DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1045;MQ=56;MQ0=0;QD=31.16;SB=-1646.26;TI=NM_000242;GI=MBL2;FC=Synonymous_L126L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:3490,259,0:56:99:1.000 chr10 55912942 rs61730754 C T 940.88 PASS BaseQRankSum=-1.775;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6410;MQ=50;MQ0=0;MQRankSum=1.939;QD=12.22;ReadPosRankSum=-0.957;SB=-640.76;TI=NM_001142771,NM_001142772,NM_001142770,NM_001142769,NM_001142766,NM_001142773,NM_001142764,NM_001142765,NM_001142763,NM_001142767,NM_033056,NM_001142768;GI=PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15;FC=Missense_A573T,Missense_A568T,Missense_A568T,Missense_A580T,Missense_A568T,Missense_A546T,Missense_A568T,Missense_A568T,Missense_A573T,Missense_A531T,Missense_A568T,Missense_A546T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,42:77:99:971,0,762:50:99:0.545 chr10 55955485 rs7921598 A G 853.74 PASS BaseQRankSum=-0.480;DP=52;Dels=0.00;FS=2.534;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-1.082;QD=16.42;ReadPosRankSum=-0.818;SB=-442.26;TI=NM_001142771,NM_001142772,NM_001142770,NM_001142769,NM_001142766,NM_001142773,NM_001142764,NM_001142765,NM_001142763,NM_001142767,NM_033056,NM_001142768;GI=PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15;FC=Synonymous_T426T,Synonymous_T421T,Synonymous_T421T,Synonymous_T426T,Synonymous_T421T,Synonymous_T399T,Synonymous_T421T,Synonymous_T421T,Synonymous_T426T,Synonymous_T384T,Synonymous_T421T,Synonymous_T399T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,32:52:99:884,0,476:57:99:0.615 chr10 55955610 rs10825269 C T 1510.00 PASS BaseQRankSum=0.408;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=0.433;QD=12.28;ReadPosRankSum=0.099;SB=-888.69;TI=NM_001142771,NM_001142772,NM_001142770,NM_001142769,NM_001142766,NM_001142773,NM_001142764,NM_001142765,NM_001142763,NM_001142767,NM_033056,NM_001142768;GI=PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15;FC=Missense_G385S,Missense_G380S,Missense_G380S,Missense_G385S,Missense_G380S,Missense_G358S,Missense_G380S,Missense_G380S,Missense_G385S,Missense_G343S,Missense_G380S,Missense_G358S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,64:123:99:1540,0,1402:54:99:0.520 chr10 56423968 rs11004439 A C 674.29 PASS BaseQRankSum=-2.968;DP=56;Dels=0.00;FS=2.366;HRun=0;HaplotypeScore=0.9995;MQ=53;MQ0=0;MQRankSum=2.066;QD=12.04;ReadPosRankSum=-0.066;SB=-252.91;TI=NM_001142771,NM_001142772,NM_001142770,NM_001142769,NM_001142766,NM_001142773,NM_001142764,NM_001142765,NM_001142763,NM_001142767,NM_033056,NM_001142768;GI=PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15,PCDH15;FC=Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,27:56:99:704,0,696:53:99:0.482 chr10 60573753 rs9416746 G T 6715.41 PASS DP=218;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.2569;MQ=58;MQ0=0;QD=30.80;SB=-2628.60;TI=NM_001080512;GI=BICC1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,217:218:99:6715,488,0:58:99:1.000 chr10 60577393 rs4344442 T C 5149.89 PASS DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4816;MQ=52;MQ0=0;QD=28.45;SB=-3316.46;TI=NM_001080512;GI=BICC1;FC=Synonymous_L869L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,181:181:99:5150,370,0:52:99:1.000 chr10 60588553 rs4948550 T C 3087.06 PASS DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=27.32;SB=-1866.06;TI=NM_001080512;GI=BICC1;FC=Missense_S943P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3120,223,0:55:99:1.000 chr10 61819556 rs12356776 G A 2889.62 PASS BaseQRankSum=1.698;DP=194;Dels=0.00;FS=6.176;HRun=0;HaplotypeScore=2.8931;MQ=57;MQ0=0;MQRankSum=0.529;QD=14.89;ReadPosRankSum=1.147;SB=-1366.86;TI=NM_001149,NM_020987;GI=ANK3,ANK3;FC=Synonymous_D789D,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,108:194:99:2920,0,2258:57:99:0.557 chr10 61832626 rs41274674 G A 2720.73 PASS BaseQRankSum=-2.168;DP=210;Dels=0.00;FS=3.126;HRun=0;HaplotypeScore=13.7073;MQ=56;MQ0=0;MQRankSum=2.891;QD=12.96;ReadPosRankSum=-0.210;SB=-1465.08;TI=NM_001149,NM_020987;GI=ANK3,ANK3;FC=Silent,Synonymous_S2671S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,100:210:99:2751,0,2805:56:99:0.476 chr10 61956386 rs34796699 GA G 106.60 R8 BaseQRankSum=-1.607;DP=39;FS=5.496;HRun=12;HaplotypeScore=140.9645;MQ=52;MQ0=0;MQRankSum=-0.037;QD=2.73;ReadPosRankSum=-0.621;SB=-31.50;TI=NM_020987;GI=ANK3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,9:39:99:146,0,541:52:99:0.250 chr10 61965625 rs2297979 A G 3579.62 PASS DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=53;MQ0=0;QD=27.33;SB=-2408.15;TI=NM_020987;GI=ANK3;FC=Synonymous_I406I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3580,256,0:53:99:1.000 chr10 64159333 rs3758490 G T 1717.83 PASS BaseQRankSum=-1.741;DP=146;Dels=0.00;FS=4.106;HRun=0;HaplotypeScore=6.2586;MQ=54;MQ0=0;MQRankSum=-0.069;QD=11.77;ReadPosRankSum=-0.304;SB=-704.30;TI=NM_014951,NM_199450,NM_199451;GI=ZNF365,ZNF365,ZNF365;FC=Missense_A337S,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,70:146:99:1748,0,1798:54:99:0.479 chr10 64415184 rs7076156 A G 276.66 LowGQ;SB;LowDP DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=34.58;SB=-0.01;TI=NM_199451,NM_199452;GI=ZNF365,ZNF365;FC=Silent,Missense_T62A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,8:8:24.07:310,24,0:60:24:1.000 chr10 64573771 rs224083 C T 6066.70 PASS DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.3468;MQ=55;MQ0=0;QD=27.33;SB=-3605.46;TI=NM_001136177,NM_001136179,NM_000399,NM_001136178;GI=EGR2,EGR2,EGR2,EGR2;FC=Synonymous_P209P,Synonymous_P159P,Synonymous_P209P,Synonymous_P209P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,220:222:99:6067,445,0:55:99:1.000 chr10 64927823 rs1935 C G 947.17 PASS BaseQRankSum=-0.234;DP=86;Dels=0.00;FS=2.965;HRun=0;HaplotypeScore=2.8936;MQ=53;MQ0=0;MQRankSum=2.195;QD=11.01;ReadPosRankSum=0.547;SB=-414.92;TI=NM_004241,NM_032776;GI=JMJD1C,JMJD1C;FC=Missense_E2298D,Missense_E2535D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,39:86:99:977,0,1252:53:99:0.453 chr10 64945364 rs3211105 G A 1713.31 PASS BaseQRankSum=1.216;DP=139;Dels=0.00;FS=0.659;HRun=1;HaplotypeScore=1.8835;MQ=52;MQ0=0;MQRankSum=2.413;QD=12.33;ReadPosRankSum=0.870;SB=-848.55;TI=NM_004241,NM_032776;GI=JMJD1C,JMJD1C;FC=Synonymous_D2026D,Synonymous_D2263D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,72:139:99:1743,0,1665:52:99:0.518 chr10 64967445 rs1904294 A T 6277.57 PASS DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1977;MQ=55;MQ0=0;QD=32.87;SB=-2918.14;TI=NM_004241,NM_032776;GI=JMJD1C,JMJD1C;FC=Synonymous_R1109R,Synonymous_R1328R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,190:191:99:6278,470,0:55:99:1.000 chr10 64974537 rs10761725 A T 1810.28 PASS BaseQRankSum=2.610;DP=154;Dels=0.00;FS=7.166;HRun=0;HaplotypeScore=7.2969;MQ=54;MQ0=0;MQRankSum=0.698;QD=11.76;ReadPosRankSum=-2.481;SB=-822.85;TI=NM_004241,NM_032776;GI=JMJD1C,JMJD1C;FC=Missense_S245T,Missense_S464T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,66:154:99:1840,0,2290:54:99:0.431 chr10 65225244 rs1061259 G C 1255.14 PASS BaseQRankSum=-0.380;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0072;MQ=55;MQ0=0;MQRankSum=-0.661;QD=16.09;ReadPosRankSum=0.391;SB=-692.86;TI=NM_032776,NR_027182;GI=JMJD1C,LOC84989;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,50:78:99:1285,0,780:55:99:0.641 chr10 65225245 rs10761770 A G 2401.59 PASS DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0072;MQ=55;MQ0=0;QD=30.79;SB=-1216.11;TI=NM_032776,NR_027182;GI=JMJD1C,LOC84989;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2435,181,0:55:99:1.000 chr10 69948844 rs10733838 T C 1822.90 PASS DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=57;MQ0=0;QD=28.93;SB=-911.55;TI=NM_032578;GI=MYPN;FC=Synonymous_V962V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1856,132,0:57:99:1.000 chr10 69970895 rs876489 G C 5538.78 PASS BaseQRankSum=-1.424;DP=423;Dels=0.00;FS=3.628;HRun=1;HaplotypeScore=16.7127;MQ=55;MQ0=0;MQRankSum=1.653;QD=13.09;ReadPosRankSum=-1.888;SB=-3203.93;TI=NM_032578;GI=MYPN;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:209,212:423:99:5539,0,5607:55:99:0.504 chr10 69971138 rs3217542 AG A 3090.99 PASS BaseQRankSum=0.383;DP=166;FS=0.580;HRun=1;HaplotypeScore=102.3919;MQ=56;MQ0=0;MQRankSum=1.620;QD=18.62;ReadPosRankSum=-0.870;SB=-1290.49;TI=NM_032578;GI=MYPN;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,80:166:99:3130,0,3293:56:99:0.488 chr10 69971585 rs881975 G A 877.58 PASS BaseQRankSum=2.078;DP=76;Dels=0.00;FS=3.136;HRun=0;HaplotypeScore=2.7876;MQ=55;MQ0=0;MQRankSum=2.525;QD=11.55;ReadPosRankSum=-0.457;SB=-432.85;TI=NM_032578;GI=MYPN;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,37:76:99:908,0,942:55:99:0.487 chr10 70332580 rs10823229 A G 2309.23 PASS BaseQRankSum=1.183;DP=143;Dels=0.00;FS=0.622;HRun=1;HaplotypeScore=2.6823;MQ=57;MQ0=0;MQRankSum=-0.354;QD=16.15;ReadPosRankSum=-1.551;SB=-1274.15;TI=NM_030625;GI=TET1;FC=Missense_D162G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,76:143:99:2339,0,1721:57:99:0.531 chr10 70405855 rs3998860 A G 5688.01 PASS DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=32.32;SB=-3325.55;TI=NM_030625;GI=TET1;FC=Missense_I1123M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,176:176:99:5688,421,0:55:99:1.000 chr10 70645376 rs10509305 A C 3789.72 PASS BaseQRankSum=0.366;DP=237;Dels=0.00;FS=1.020;HRun=0;HaplotypeScore=7.2036;MQ=56;MQ0=0;MQRankSum=1.988;QD=15.99;ReadPosRankSum=0.345;SB=-1906.47;TI=NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162;GI=STOX1,STOX1,STOX1,STOX1,STOX1;FC=Missense_E608D,Silent,Silent,Missense_E608D,Missense_E498D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,133:237:99:3790,0,2718:56:99:0.561 chr10 70645697 rs10509306 C T 2921.34 PASS BaseQRankSum=1.721;DP=250;Dels=0.00;FS=3.566;HRun=0;HaplotypeScore=15.3230;MQ=57;MQ0=0;MQRankSum=1.290;QD=11.69;ReadPosRankSum=-0.216;SB=-1501.64;TI=NM_152709,NM_001130160,NM_001130159,NM_001130161,NM_001130162;GI=STOX1,STOX1,STOX1,STOX1,STOX1;FC=Synonymous_N715N,Silent,Silent,Synonymous_N715N,Synonymous_N605N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:142,107:250:99:2951,0,3980:57:99:0.430 chr10 71060610 rs906220 A G 3361.34 PASS DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=56;MQ0=0;QD=27.11;SB=-2256.01;TI=NM_033497,NM_033498,NM_033500;GI=HK1,HK1,HK1;FC=Silent,Silent,Missense_H7R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,124:124:99:3361,241,0:56:99:1.000 chr10 71103597 rs1133189 C G 755.81 PASS BaseQRankSum=1.909;DP=78;Dels=0.00;FS=2.069;HRun=0;HaplotypeScore=1.7608;MQ=55;MQ0=0;MQRankSum=0.954;QD=9.69;ReadPosRankSum=0.311;SB=-412.34;TI=NM_033497,NM_033498,NM_033500,NM_033496,NM_000188;GI=HK1,HK1,HK1,HK1,HK1;FC=Synonymous_L30L,Synonymous_L30L,Synonymous_L14L,Synonymous_L25L,Synonymous_L26L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,35:78:99:786,0,1109:55:99:0.449 chr10 71142420 rs748235 G A 3600.90 PASS BaseQRankSum=1.705;DP=127;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=10.6607;MQ=53;MQ0=0;MQRankSum=1.678;QD=28.35;ReadPosRankSum=0.450;SB=-2248.28;TI=NM_033497,NM_033498,NM_033500,NM_033496,NM_000188;GI=HK1,HK1,HK1,HK1,HK1;FC=Synonymous_K485K,Synonymous_K485K,Synonymous_K469K,Synonymous_K480K,Synonymous_K481K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,126:127:99:3601,259,0:53:99:0.992 chr10 71332204 rs4536103 A G 337.19 SB BaseQRankSum=-1.797;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.875;QD=12.04;ReadPosRankSum=-0.967;SB=-0.01;TI=NM_020999;GI=NEUROG3;FC=Missense_F199S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,13:28:99:367,0,487:57:99:0.464 chr10 72195439 rs1904589 T C 5703.16 PASS BaseQRankSum=3.353;DP=429;Dels=0.00;FS=1.566;HRun=0;HaplotypeScore=12.4362;MQ=54;MQ0=0;MQRankSum=1.968;QD=13.29;ReadPosRankSum=0.723;SB=-3531.20;TI=NM_018055;GI=NODAL;FC=Missense_H165R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:211,217:429:99:5703,0,4968:54:99:0.507 chr10 72358577 rs885822 G A 4970.75 PASS DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6128;MQ=58;MQ0=0;QD=31.26;SB=-2648.68;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Synonymous_H300H,Synonymous_H300H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,159:159:99:4971,370,0:58:99:1.000 chr10 72358655 rs885821 G A 2631.38 PASS BaseQRankSum=0.836;DP=186;Dels=0.00;FS=1.246;HRun=0;HaplotypeScore=8.8586;MQ=53;MQ0=0;MQRankSum=0.817;QD=14.15;ReadPosRankSum=-0.226;SB=-937.98;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Synonymous_A274A,Synonymous_A274A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,95:186:99:2661,0,2396:53:99:0.511 chr10 73079004 rs72542481 C T 172.35 LowDP BaseQRankSum=0.572;DP=8;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=3.4525;MQ=60;MQ0=0;MQRankSum=0.000;QD=21.54;ReadPosRankSum=-1.589;SB=-54.95 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,6:8:54.51:202,0,55:60:55:0.750 chr10 73082563 rs2277257 A G 232.05 PASS BaseQRankSum=0.094;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=-0.598;QD=10.09;ReadPosRankSum=2.299;SB=-28.61;TI=NR_033414,NR_033413,NM_018344,NM_001174098;GI=SLC29A3,SLC29A3,SLC29A3,SLC29A3;FC=Silent,Silent,Missense_R37G,Missense_R37G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,9:23:99:262,0,393:59:99:0.391 chr10 73104056 rs2243540 A G 2576.55 PASS DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2823;MQ=53;MQ0=0;QD=28.31;SB=-1577.44;TI=NR_033414,NR_033413,NM_018344,NM_001174098;GI=SLC29A3,SLC29A3,SLC29A3,SLC29A3;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2610,190,0:53:99:1.000 chr10 73111408 rs780668 C T 4449.08 PASS DP=169;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.33;SB=-3208.93;TI=NR_033414,NR_033413,NM_018344,NM_001174098;GI=SLC29A3,SLC29A3,SLC29A3,SLC29A3;FC=Silent,Silent,Missense_S177F,Missense_S177F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,169:169:99:4449,313,0:53:99:1.000 chr10 73115941 rs2252997 T C 3576.51 PASS DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6000;MQ=50;MQ0=0;QD=26.89;SB=-2337.70;TI=NR_033414,NR_033413,NM_018344,NM_001174098;GI=SLC29A3,SLC29A3,SLC29A3,SLC29A3;FC=Silent,Silent,Synonymous_T257T,Synonymous_T257T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:3577,253,0:50:99:1.000 chr10 73115942 rs2252996 G A 3534.30 PASS DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6000;MQ=50;MQ0=0;QD=26.57;SB=-2300.20;TI=NR_033414,NR_033413,NM_018344,NM_001174098;GI=SLC29A3,SLC29A3,SLC29A3,SLC29A3;FC=Silent,Silent,Missense_V258I,Missense_V258I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:3534,250,0:50:99:1.000 chr10 73121913 rs2487068 A G 167.64 LowGQ;LowDP DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=33.53;SB=-40.40;TI=NR_033414,NR_033413,NM_018344,NM_001174098;GI=SLC29A3,SLC29A3,SLC29A3,SLC29A3;FC=Silent,Silent,Missense_I345V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:15.05:200,15,0:60:15:1.000 chr10 73121945 rs1084004 T C 133.58 LowGQ;LowDP DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=26.72;SB=-80.84;TI=NR_033414,NR_033413,NM_018344,NM_001174098;GI=SLC29A3,SLC29A3,SLC29A3,SLC29A3;FC=Silent,Silent,Synonymous_G355G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:12.04:166,12,0:60:12:1.000 chr10 73270906 rs3802720 T C 2391.48 PASS BaseQRankSum=0.933;DP=208;Dels=0.00;FS=0.521;HRun=0;HaplotypeScore=5.3097;MQ=54;MQ0=0;MQRankSum=-0.884;QD=11.50;ReadPosRankSum=1.090;SB=-1230.47;TI=NM_001171932,NM_052836,NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23,CDH23,CDH23;FC=Synonymous_V122V,Synonymous_V122V,Synonymous_V122V,Synonymous_V122V,Synonymous_V122V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,97:208:99:2421,0,2733:54:99:0.466 chr10 73455201 rs3752752 T C 3850.21 PASS DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3811;MQ=53;MQ0=0;QD=29.17;SB=-2232.50;TI=NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23;FC=Synonymous_N772N,Synonymous_N772N,Synonymous_N772N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:132:99:3850,280,0:53:99:1.000 chr10 73455273 rs3752751 T C 2043.19 PASS DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.61;SB=-999.11;TI=NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23;FC=Synonymous_D796D,Synonymous_D796D,Synonymous_D796D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:2076,153,0:55:99:1.000 chr10 73492079 rs1227065 A G 4893.12 PASS DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4537;MQ=50;MQ0=0;QD=26.31;SB=-3349.89;TI=NM_001171930,NM_022124,NM_001168390;GI=CDH23,CDH23,C10orf105;FC=Missense_N1351D,Missense_N1351D,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,186:186:99:4893,346,0:50:99:1.000 chr10 73501556 rs1227051 G A 2687.98 PASS DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4941;MQ=52;MQ0=0;QD=27.15;SB=-1909.82;TI=NM_022124;GI=CDH23;FC=Missense_A1575T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,99:99:99:2721,193,0:52:99:1.000 chr10 73544093 rs74145660 C G 985.48 PASS BaseQRankSum=2.775;DP=96;Dels=0.00;FS=3.881;HRun=1;HaplotypeScore=6.4131;MQ=50;MQ0=0;MQRankSum=-0.543;QD=10.27;ReadPosRankSum=-0.345;SB=-721.87;TI=NM_022124;GI=CDH23;FC=Missense_D1806E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,45:96:99:1015,0,1167:50:99:0.469 chr10 73550117 rs11592462 C G 1460.52 PASS BaseQRankSum=0.472;DP=126;Dels=0.00;FS=2.313;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=1.109;QD=11.59;ReadPosRankSum=0.427;SB=-916.32;TI=NM_022124;GI=CDH23;FC=Missense_T1999S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,65:126:99:1491,0,1317:51:99:0.520 chr10 75673101 rs2227564 T C 3925.93 PASS DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4156;MQ=52;MQ0=0;QD=26.89;SB=-2380.77;TI=NM_001001791,NM_002658,NM_001145031;GI=C10orf55,PLAU,PLAU;FC=Silent,Missense_L141P,Missense_L124P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:3926,280,0:52:99:1.000 chr10 75865065 rs767809 G A 1578.97 PASS BaseQRankSum=-0.416;DP=107;Dels=0.00;FS=1.889;HRun=1;HaplotypeScore=2.8935;MQ=58;MQ0=0;MQRankSum=-0.335;QD=14.76;ReadPosRankSum=-2.629;SB=-517.46;TI=NM_003373,NM_014000;GI=VCL,VCL;FC=Synonymous_P796P,Synonymous_P796P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,58:107:99:1609,0,1334:58:99:0.542 chr10 75871735 rs2131956 C G 1396.25 PASS BaseQRankSum=-0.163;DP=120;Dels=0.00;FS=0.718;HRun=2;HaplotypeScore=12.6627;MQ=56;MQ0=0;MQRankSum=-2.231;QD=11.64;ReadPosRankSum=-0.063;SB=-650.04;TI=NM_003373,NM_014000;GI=VCL,VCL;FC=Silent,Synonymous_G938G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,59:120:99:1426,0,1552:56:99:0.492 chr10 76781905 . GGAA G 1532.25 PASS BaseQRankSum=-2.056;DP=80;FS=2.137;HRun=0;HaplotypeScore=65.3655;MQ=58;MQ0=0;MQRankSum=-0.223;QD=19.15;ReadPosRankSum=-0.951;SB=-606.46;TI=NM_012330;GI=MYST4;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,35:80:99:1571,0,1575:58:99:0.438 chr10 78317048 . G T 58.30 LowGQX;LowGQ;LowDP DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=14.57;SB=-76.78;TI=NM_032024;GI=C10orf11;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,4:4:6.02:90,6,0:60:6:1.000 chr10 78944590 rs1131824 G A 982.68 PASS BaseQRankSum=0.067;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.6195;MQ=55;MQ0=0;MQRankSum=0.025;QD=11.17;ReadPosRankSum=0.109;SB=-476.42;TI=NM_001014797,NM_001161352,NM_002247,NM_001161353;GI=KCNMA1,KCNMA1,KCNMA1,KCNMA1;FC=Synonymous_F229F,Synonymous_F229F,Synonymous_F229F,Synonymous_F229F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,45:88:99:1013,0,1116:55:99:0.511 chr10 79566632 rs1058198 G A 1994.80 PASS BaseQRankSum=0.887;DP=172;Dels=0.00;FS=5.623;HRun=0;HaplotypeScore=21.0033;MQ=51;MQ0=0;MQRankSum=1.106;QD=11.60;ReadPosRankSum=2.702;SB=-1013.93;TI=NM_004747;GI=DLG5;FC=Synonymous_D1617D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,82:172:99:2025,0,2063:51:99:0.482 chr10 79576772 rs35837544 G A 1071.43 PASS BaseQRankSum=1.110;DP=90;Dels=0.00;FS=1.679;HRun=0;HaplotypeScore=5.2823;MQ=54;MQ0=0;MQRankSum=0.149;QD=11.90;ReadPosRankSum=-1.231;SB=-764.10;TI=NM_004747;GI=DLG5;FC=Synonymous_S1289S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,46:90:99:1101,0,1043:54:99:0.511 chr10 79584178 rs1248629 G C 1726.94 PASS BaseQRankSum=1.431;DP=187;Dels=0.00;FS=1.812;HRun=1;HaplotypeScore=5.5708;MQ=52;MQ0=0;MQRankSum=2.009;QD=9.23;ReadPosRankSum=0.665;SB=-1310.16;TI=NM_004747;GI=DLG5;FC=Synonymous_R782R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,82:187:99:1757,0,2429:52:99:0.441 chr10 79616605 rs1248696 T C 5250.88 PASS DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4648;MQ=54;MQ0=0;QD=26.93;SB=-3153.20;TI=NM_004747;GI=DLG5;FC=Missense_Q140R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,194:195:99:5251,379,0:54:99:1.000 chr10 79769647 rs34588967 C A 1637.22 PASS BaseQRankSum=0.476;DP=142;Dels=0.00;FS=2.147;HRun=0;HaplotypeScore=7.1253;MQ=51;MQ0=0;MQRankSum=0.345;QD=11.53;ReadPosRankSum=-2.162;SB=-1163.02;TI=NM_007055;GI=POLR3A;FC=Missense_R582L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,74:142:99:1667,0,1542:51:99:0.521 chr10 81317045 rs1965708 G T 1260.36 SB DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=37;MQ0=0;QD=38.19;SB=-0.01;TI=NM_001098668;GI=SFTPA2;FC=Missense_Q223K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:99:1293,99,0:37:99:1.000 chr10 81317292 rs1965707;rs61862719 G A 788.78 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7460;MQ=15;MQ0=83;QD=6.98;SB=-39.32;TI=NM_001098668;GI=SFTPA2;FC=Synonymous_S140S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:28,84:113:72.19:822,72,0:15:72:0.750 chr10 81319214 rs1059046;rs35576782 G T 1053.05 PASS BaseQRankSum=1.002;DP=133;Dels=0.00;FS=3.582;HRun=1;HaplotypeScore=10.0973;MQ=43;MQ0=6;MQRankSum=-7.057;QD=7.92;ReadPosRankSum=-0.737;SB=-523.48;TI=NM_001098668;GI=SFTPA2;FC=Missense_T9N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,59:133:99:1083,0,1754:43:99:0.450 chr10 81371698 rs4253512;rs72659390 C T 1316.98 PASS BaseQRankSum=1.862;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5340;MQ=48;MQ0=9;MQRankSum=5.083;QD=11.65;ReadPosRankSum=1.294;SB=-590.30;TI=NM_001164645,NM_001164644,NM_001164646,NM_001164647,NM_005411,NM_001093770;GI=SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1;FC=Silent,Synonymous_H39H,Silent,Synonymous_H39H,Synonymous_H39H,Synonymous_H54H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,56:113:99:1347,0,1112:48:99:0.496 chr10 81371729 rs1136450;rs11554795 C G 669.68 PASS BaseQRankSum=0.257;DP=83;Dels=0.00;FS=2.309;HRun=0;HaplotypeScore=2.6823;MQ=47;MQ0=5;MQRankSum=-5.265;QD=8.07;ReadPosRankSum=-1.768;SB=-226.45;TI=NM_001164645,NM_001164644,NM_001164646,NM_001164647,NM_005411,NM_001093770;GI=SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1;FC=Silent,Missense_L50V,Silent,Missense_L50V,Missense_L50V,Missense_L65V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,39:83:99:700,0,1223:47:99:0.470 chr10 81373542 rs3997777;rs61862719 C T 248.48 PASS BaseQRankSum=1.014;DP=166;Dels=0.00;FS=9.962;HRun=0;HaplotypeScore=2.8452;MQ=23;MQ0=74;MQRankSum=-0.967;QD=1.50;ReadPosRankSum=2.549;SB=-112.34;TI=NM_001164645,NM_001164644,NM_001164646,NM_001164647,NM_005411,NM_001093770;GI=SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1,SFTPA1;FC=Synonymous_S106S,Synonymous_S140S,Synonymous_S91S,Synonymous_S140S,Synonymous_S140S,Synonymous_S155S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,62:166:99:278,0,1586:23:99:0.373 chr10 81926702 rs1049550 G A 1409.67 PASS BaseQRankSum=0.666;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5776;MQ=56;MQ0=0;MQRankSum=2.997;QD=12.59;ReadPosRankSum=0.724;SB=-989.91;TI=NM_145869,NM_001157,NM_145868;GI=ANXA11,ANXA11,ANXA11;FC=Missense_R230C,Missense_R230C,Missense_R230C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,61:112:99:1440,0,1182:56:99:0.545 chr10 82033594 rs2993763 G A 1086.37 PASS BaseQRankSum=-0.649;DP=114;Dels=0.00;FS=9.035;HRun=0;HaplotypeScore=4.5383;MQ=57;MQ0=0;MQRankSum=2.441;QD=9.53;ReadPosRankSum=0.858;SB=-548.03;TI=NM_000429;GI=MAT1A;FC=Synonymous_Y377Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,45:114:99:1116,0,1725:57:99:0.395 chr10 82034842 rs10887711 A G 7401.39 PASS BaseQRankSum=0.344;DP=278;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0078;MQ=53;MQ0=0;MQRankSum=-1.695;QD=26.62;ReadPosRankSum=-1.182;SB=-4872.94;TI=NM_000429;GI=MAT1A;FC=Synonymous_A294A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,276:278:99:7401,498,0:53:99:0.996 chr10 82034854 rs10788546 T C 6996.17 PASS BaseQRankSum=-1.370;DP=259;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.8747;MQ=54;MQ0=0;MQRankSum=-0.779;QD=27.01;ReadPosRankSum=-1.396;SB=-4577.81;TI=NM_000429;GI=MAT1A;FC=Synonymous_V290V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,257:259:99:6996,468,0:54:99:0.996 chr10 82040052 rs1143694 A G 1952.42 PASS DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=56;MQ0=0;QD=27.12;SB=-1232.84;TI=NM_000429;GI=MAT1A;FC=Synonymous_A142A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:1985,141,0:56:99:1.000 chr10 82045354 rs10887721 G C 465.10 PASS BaseQRankSum=1.782;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=0.286;QD=15.50;ReadPosRankSum=-0.726;SB=-324.08;TI=NM_000429;GI=MAT1A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,20:30:99:495,0,228:53:99:0.667 chr10 85960395 rs4933975 A G 1179.86 PASS BaseQRankSum=0.603;DP=110;Dels=0.00;FS=0.718;HRun=1;HaplotypeScore=7.5466;MQ=51;MQ0=0;MQRankSum=-1.864;QD=10.73;ReadPosRankSum=-0.009;SB=-800.72;TI=NM_033100,NM_001171971;GI=CDHR1,CDHR1;FC=Synonymous_A159A,Synonymous_A159A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,54:110:99:1210,0,1329:51:99:0.495 chr10 85972043 rs10749482 A G 1296.10 PASS BaseQRankSum=0.305;DP=154;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7855;MQ=50;MQ0=0;MQRankSum=-0.158;QD=8.42;ReadPosRankSum=-0.151;SB=-955.84;TI=NM_033100,NM_001171971;GI=CDHR1,CDHR1;FC=Synonymous_E554E,Synonymous_E554E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,63:154:99:1326,0,2174:50:99:0.409 chr10 85974236 rs3814213 T C 702.06 PASS BaseQRankSum=0.264;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2778;MQ=57;MQ0=0;MQRankSum=-1.762;QD=11.32;ReadPosRankSum=-0.578;SB=-113.56;TI=NM_033100,NM_001171971;GI=CDHR1,CDHR1;FC=Synonymous_T813T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,26:62:99:732,0,1127:57:99:0.419 chr10 85974381 rs3814212 A G 222.94 LowDP BaseQRankSum=-1.381;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=54;MQ0=0;MQRankSum=-1.256;QD=17.15;ReadPosRankSum=-0.533;SB=-34.63;TI=NM_033100,NM_001171971;GI=CDHR1,CDHR1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,8:13:99:253,0,157:54:99:0.615 chr10 85978939 rs4244947 G A 1301.38 PASS BaseQRankSum=0.479;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=2.200;QD=11.22;ReadPosRankSum=1.005;SB=-708.89;TI=NM_001171971;GI=CDHR1;FC=Synonymous_L715L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,54:116:99:1331,0,1559:54:99:0.466 chr10 85978991 rs7895270 C T 1203.76 PASS BaseQRankSum=-0.867;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=1.238;QD=10.94;ReadPosRankSum=-0.060;SB=-850.62;TI=NM_001171971;GI=CDHR1;FC=Synonymous_L733L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,53:110:99:1234,0,1491:54:99:0.482 chr10 86004865 rs11200938 C T 767.15 PASS BaseQRankSum=0.317;DP=52;Dels=0.00;FS=1.076;HRun=1;HaplotypeScore=0.8667;MQ=53;MQ0=0;MQRankSum=0.541;QD=14.75;ReadPosRankSum=1.007;SB=-517.64;TI=NM_001012720,NM_002921,NM_001012722;GI=RGR,RGR,RGR;FC=Synonymous_L7L,Synonymous_L7L,Synonymous_L7L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,31:52:99:797,0,447:53:99:0.596 chr10 86004873 rs2279227 T C 704.83 PASS BaseQRankSum=-1.104;DP=53;Dels=0.00;FS=1.052;HRun=1;HaplotypeScore=2.6000;MQ=53;MQ0=0;MQRankSum=1.050;QD=13.30;ReadPosRankSum=1.570;SB=-460.91;TI=NM_001012720,NM_002921,NM_001012722;GI=RGR,RGR,RGR;FC=Synonymous_T9T,Synonymous_T9T,Synonymous_T9T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,30:53:99:735,0,495:53:99:0.566 chr10 86012713 rs1042454 C T 1591.64 PASS BaseQRankSum=0.440;DP=139;Dels=0.00;FS=2.175;HRun=0;HaplotypeScore=1.7882;MQ=51;MQ0=0;MQRankSum=0.310;QD=11.45;ReadPosRankSum=1.173;SB=-1042.36;TI=NM_001012720,NM_002921,NM_001012722;GI=RGR,RGR,RGR;FC=Synonymous_Y153Y,Synonymous_Y157Y,Synonymous_Y153Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,69:139:99:1622,0,1727:51:99:0.496 chr10 87898729 rs17106320 G A 2208.10 PASS BaseQRankSum=2.183;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4424;MQ=55;MQ0=0;MQRankSum=1.240;QD=10.18;ReadPosRankSum=-1.596;SB=-1385.82;TI=NM_017551;GI=GRID1;FC=Synonymous_D191D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,94:217:99:2238,0,3166:55:99:0.433 chr10 88419641 rs3740335 G A 101.07 LowDP BaseQRankSum=-0.825;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=-0.825;QD=9.19;ReadPosRankSum=-0.466;SB=-30.98;TI=NM_001030015,NM_033282;GI=OPN4,OPN4;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,5:11:99:131,0,109:50:99:0.455 chr10 88422116 rs1079610 C T 494.68 PASS BaseQRankSum=0.717;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-1.490;QD=10.99;ReadPosRankSum=1.308;SB=-381.01;TI=NM_001030015,NM_033282;GI=OPN4,OPN4;FC=Missense_T405I,Missense_T394I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,24:45:99:525,0,511:53:99:0.533 chr10 88476161 . T C 18.88 SB;LowDP BaseQRankSum=-0.922;DP=9;Dels=0.11;FS=0.000;HRun=2;HaplotypeScore=22.7149;MQ=36;MQ0=0;MQRankSum=-1.495;QD=2.10;ReadPosRankSum=1.495;SB=-0.01;TI=NM_001171610,NM_007078,NM_001080114;GI=LDB3,LDB3,LDB3;FC=Missense_Y442H,Missense_Y437H,Missense_Y327H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,2:8:48.81:49,0,134:36:19:0.286 chr10 88476182 . G C 9.83 SB;LowDP BaseQRankSum=-1.231;DP=7;Dels=0.29;FS=0.000;HRun=2;HaplotypeScore=18.6905;MQ=29;MQ0=0;MQRankSum=0.358;QD=1.40;ReadPosRankSum=1.231;SB=-0.01;TI=NM_001171610,NM_007078,NM_001080114;GI=LDB3,LDB3,LDB3;FC=Missense_A449P,Missense_A444P,Missense_A334P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,3:5:39.35:39,0,55:29:10:0.600 chr10 88476185 . T C 8.07 LowGQX;SB;LowDP BaseQRankSum=0.000;DP=7;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=13.9479;MQ=29;MQ0=0;MQRankSum=0.720;QD=1.15;ReadPosRankSum=1.380;SB=-0.01;TI=NM_001171610,NM_007078,NM_001080114;GI=LDB3,LDB3,LDB3;FC=Missense_Y450H,Missense_Y445H,Missense_Y335H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,2:7:37.33:37,0,55:29:8:0.333 chr10 88485931 rs45578640 C T 1154.78 PASS BaseQRankSum=0.258;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=1.125;QD=13.43;ReadPosRankSum=-1.676;SB=-686.22;TI=NM_001171610,NM_007078,NM_001080114;GI=LDB3,LDB3,LDB3;FC=Synonymous_C677C,Synonymous_C672C,Synonymous_C562C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,50:86:99:1185,0,950:52:99:0.581 chr10 89267957 rs3843597 C T 731.10 PASS BaseQRankSum=0.270;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=1.624;QD=9.88;ReadPosRankSum=1.404;SB=-392.93;TI=NM_004897,NM_001178117,NM_001178118;GI=MINPP1,MINPP1,MINPP1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,30:74:99:761,0,1107:53:99:0.405 chr10 90771829 rs2234978 T C 1983.46 PASS DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=55;MQ0=0;QD=31.48;SB=-1042.87;TI=NR_028034,NR_028035,NR_028033,NM_152872,NM_152871,NM_000043,NR_028036;GI=FAS,FAS,FAS,FAS,FAS,FAS,FAS;FC=Silent,Silent,Silent,Synonymous_T214T,Synonymous_T193T,Synonymous_T214T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:2016,147,0:55:99:1.000 chr10 91007360 rs1051338 T G 2259.51 PASS BaseQRankSum=1.303;DP=173;Dels=0.00;FS=7.726;HRun=3;HaplotypeScore=8.6734;MQ=50;MQ0=0;MQRankSum=-1.873;QD=13.06;ReadPosRankSum=1.239;SB=-1184.35;TI=NM_001127605,NM_000235;GI=LIPA,LIPA;FC=Missense_T16P,Missense_T16P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,94:173:99:2290,0,1727:50:99:0.543 chr10 92678740 rs72003210 AATAAATAAATATATATAT A 5433.66 PASS DP=44;FS=0.000;HRun=0;HaplotypeScore=192.4383;MQ=38;MQ0=0;QD=123.49;SB=-2675.30;TI=NM_014391;GI=ANKRD1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,42:44:99:5434,126,0:38:99:0.955 chr10 93390158 rs35530640 C T 3089.08 PASS BaseQRankSum=2.546;DP=243;Dels=0.00;FS=2.858;HRun=2;HaplotypeScore=8.8880;MQ=58;MQ0=0;MQRankSum=3.025;QD=12.71;ReadPosRankSum=-0.185;SB=-2062.68;TI=NM_005398;GI=PPP1R3C;FC=Synonymous_E160E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,127:243:99:3119,0,2950:58:99:0.523 chr10 93752074 . G GT 196.89 R8 BaseQRankSum=-1.075;DP=64;FS=2.577;HRun=15;HaplotypeScore=169.4786;MQ=51;MQ0=0;MQRankSum=0.388;QD=3.08;ReadPosRankSum=-1.917;SB=-86.84;TI=NM_003972;GI=BTAF1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,13:64:99:236,0,367:51:99:0.283 chr10 93786447 . A T 4.59 LowGQX;LowDP BaseQRankSum=1.380;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.720;QD=0.77;ReadPosRankSum=-0.720;SB=-31.62;TI=NM_003972;GI=BTAF1;FC=Missense_E1725V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,2:6:32.73:33,0,114:60:5:0.333 chr10 95395247 rs616522 A G 1026.43 PASS DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=33.11;SB=-347.30;TI=NM_006204;GI=PDE6C;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,31:31:78.26:1059,78,0:55:78:1.000 chr10 95405814 rs1409332 C A 710.49 PASS BaseQRankSum=1.760;DP=43;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=1.046;QD=16.52;ReadPosRankSum=2.597;SB=-178.52;TI=NM_006204;GI=PDE6C;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,25:43:99:740,0,492:59:99:0.581 chr10 95454681 rs2275438 G C 882.49 PASS BaseQRankSum=1.023;DP=98;Dels=0.00;FS=1.683;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=2.018;QD=9.00;ReadPosRankSum=2.816;SB=-540.25;TI=NM_145246;GI=FRA10AC1;FC=Missense_T78R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,39:98:99:912,0,1226:55:99:0.398 chr10 95458141 rs11187597 A G 1427.43 PASS BaseQRankSum=0.395;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=1.095;QD=16.04;ReadPosRankSum=0.212;SB=-774.68;TI=NM_145246;GI=FRA10AC1;FC=Synonymous_D30D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,52:89:99:1457,0,892:54:99:0.584 chr10 95459817 rs726817 C T 495.38 PASS BaseQRankSum=0.867;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9995;MQ=51;MQ0=0;MQRankSum=0.408;QD=6.61;ReadPosRankSum=2.097;SB=-338.57;TI=NM_145246;GI=FRA10AC1;FC=Missense_R16H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,23:75:99:525,0,1258:51:99:0.307 chr10 95552653 rs1111820 T C 1185.45 PASS DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=56;MQ0=0;QD=33.87;SB=-227.11;TI=NM_005097;GI=LGI1;FC=Synonymous_F219F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:35:90.29:1218,90,0:56:90:1.000 chr10 95791613 rs17109671 T C 2005.39 PASS BaseQRankSum=0.110;DP=137;Dels=0.00;FS=0.634;HRun=0;HaplotypeScore=4.4430;MQ=56;MQ0=0;MQRankSum=0.878;QD=14.64;ReadPosRankSum=-0.274;SB=-1222.44;TI=NM_016341;GI=PLCE1;FC=Synonymous_C270C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,73:137:99:2035,0,1715:56:99:0.533 chr10 95791763 rs17109674 G A 1943.85 PASS BaseQRankSum=2.080;DP=148;Dels=0.00;FS=0.632;HRun=1;HaplotypeScore=3.9023;MQ=57;MQ0=0;MQRankSum=1.179;QD=13.13;ReadPosRankSum=-0.539;SB=-1083.86;TI=NM_016341;GI=PLCE1;FC=Synonymous_E320E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,81:148:99:1974,0,1716:57:99:0.547 chr10 95892129 rs17508082 T A 784.40 PASS BaseQRankSum=1.345;DP=96;Dels=0.00;FS=1.687;HRun=0;HaplotypeScore=0.9947;MQ=51;MQ0=0;MQRankSum=0.753;QD=8.17;ReadPosRankSum=-1.622;SB=-545.92;TI=NM_016341,NM_001165979;GI=PLCE1,PLCE1;FC=Missense_S469T,Missense_S161T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,38:96:99:814,0,1366:51:99:0.396 chr10 95931087 rs17417407 G T 988.42 PASS BaseQRankSum=-0.409;DP=76;Dels=0.00;FS=1.943;HRun=0;HaplotypeScore=3.7579;MQ=51;MQ0=0;MQRankSum=0.464;QD=13.01;ReadPosRankSum=0.529;SB=-695.90;TI=NM_016341,NM_001165979;GI=PLCE1,PLCE1;FC=Missense_R548L,Missense_R240L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,42:76:99:1018,0,735:51:99:0.568 chr10 96039597 rs2274224 G C 923.44 PASS BaseQRankSum=-0.375;DP=93;Dels=0.00;FS=2.771;HRun=5;HaplotypeScore=1.7882;MQ=51;MQ0=0;MQRankSum=0.460;QD=9.93;ReadPosRankSum=-0.669;SB=-587.72;TI=NM_016341,NM_001165979,NR_033969;GI=PLCE1,PLCE1,LOC100128054;FC=Missense_R1575P,Missense_R1267P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,41:93:99:953,0,1293:51:99:0.441 chr10 96058298 rs3765524 C T 1147.07 PASS BaseQRankSum=0.094;DP=125;Dels=0.00;FS=0.686;HRun=0;HaplotypeScore=8.4310;MQ=56;MQ0=0;MQRankSum=0.306;QD=9.18;ReadPosRankSum=0.392;SB=-689.37;TI=NM_016341,NM_001165979;GI=PLCE1,PLCE1;FC=Missense_T1777I,Missense_T1469I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,49:125:99:1177,0,1890:56:99:0.392 chr10 96066341 rs2274223 A G 1313.49 PASS BaseQRankSum=1.414;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4363;MQ=50;MQ0=0;MQRankSum=-1.671;QD=9.19;ReadPosRankSum=1.972;SB=-909.86;TI=NM_016341,NM_001165979;GI=PLCE1,PLCE1;FC=Missense_H1927R,Missense_H1619R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,60:143:99:1343,0,1939:50:99:0.423 chr10 96076495 rs942676 C G 695.91 PASS BaseQRankSum=0.070;DP=49;Dels=0.00;FS=4.200;HRun=0;HaplotypeScore=3.9972;MQ=53;MQ0=0;MQRankSum=-1.719;QD=14.20;ReadPosRankSum=-3.106;SB=-290.59;TI=NM_016341,NM_001165979;GI=PLCE1,PLCE1;FC=Synonymous_V2108V,Synonymous_V1800V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,27:49:99:726,0,524:53:99:0.551 chr10 96818119 rs1058930;rs56489507 G C 902.18 PASS BaseQRankSum=0.111;DP=75;Dels=0.00;FS=1.925;HRun=1;HaplotypeScore=2.7880;MQ=54;MQ0=0;MQRankSum=1.596;QD=12.03;ReadPosRankSum=1.352;SB=-518.57;TI=NM_001198854,NM_001198853,NM_000770,NM_001198855;GI=CYP2C8,CYP2C8,CYP2C8,CYP2C8;FC=Missense_I162M,Missense_I194M,Missense_I264M,Missense_I194M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,36:75:99:932,0,977:54:99:0.480 chr10 96827119 rs11572078 T TA 813.79 PASS BaseQRankSum=2.565;DP=76;FS=0.880;HRun=7;HaplotypeScore=119.0845;MQ=59;MQ0=0;MQRankSum=-1.469;QD=10.71;ReadPosRankSum=-0.542;SB=-384.09;TI=NM_001198854,NM_001198853,NM_000770,NM_001198855;GI=CYP2C8,CYP2C8,CYP2C8,CYP2C8;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,33:76:99:853,0,1097:59:99:0.452 chr10 97106165 rs726176 T C 929.46 PASS BaseQRankSum=0.618;DP=64;Dels=0.00;FS=8.762;HRun=0;HaplotypeScore=2.7865;MQ=54;MQ0=0;MQRankSum=0.551;QD=14.52;ReadPosRankSum=-0.672;SB=-392.60;TI=NM_006434,NM_001034954,NM_001034956,NM_001034955,NM_001034957,NM_024991,NM_015385;GI=SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1;FC=Synonymous_L459L,Synonymous_L809L,Synonymous_L660L,Synonymous_L831L,Synonymous_L515L,Synonymous_L556L,Synonymous_L591L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,33:64:99:959,0,850:54:99:0.516 chr10 97127462 rs6583998 C A 328.65 PASS BaseQRankSum=0.531;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=3.538;QD=7.64;ReadPosRankSum=-0.194;SB=-202.46;TI=NM_006434,NM_001034954,NM_001034956,NM_001034955,NM_001034957,NM_024991,NM_015385;GI=SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,14:43:99:359,0,670:51:99:0.326 chr10 97141523 rs2274490 G A 971.10 PASS BaseQRankSum=-0.614;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5677;MQ=55;MQ0=0;MQRankSum=2.544;QD=10.79;ReadPosRankSum=0.889;SB=-651.97;TI=NM_006434,NM_001034954,NM_001034956,NM_001034955,NM_001034957,NM_024991,NM_015385;GI=SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1;FC=Synonymous_D314D,Synonymous_D524D,Synonymous_D409D,Synonymous_D546D,Synonymous_D314D,Synonymous_D355D,Synonymous_D446D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,43:90:99:1001,0,1174:55:99:0.478 chr10 97146882 . G GA 317.14 R8 BaseQRankSum=3.271;DP=41;FS=0.000;HRun=10;HaplotypeScore=91.9234;MQ=56;MQ0=0;MQRankSum=1.405;QD=7.74;ReadPosRankSum=0.433;SB=-172.01;TI=NM_006434,NM_001034954,NM_001034956,NM_001034955,NM_001034957,NM_024991,NM_015385;GI=SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,17:41:99:356,0,552:56:99:0.425 chr10 97192324 rs943542 A G 1495.68 PASS DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=56;MQ0=0;QD=28.22;SB=-867.66;TI=NM_006434,NM_001034954,NM_001034956,NM_001034955,NM_001034957,NM_024991,NM_015385;GI=SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1,SORBS1;FC=Missense_L29P,Missense_L61P,Missense_L61P,Missense_L61P,Missense_L29P,Missense_L61P,Missense_L29P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:53:99:1529,111,0:56:99:1.000 chr10 97602091 rs3181131 T C 730.59 PASS BaseQRankSum=-0.590;DP=56;Dels=0.00;FS=2.386;HRun=0;HaplotypeScore=1.8835;MQ=57;MQ0=0;MQRankSum=-0.262;QD=13.05;ReadPosRankSum=-1.853;SB=-287.09;TI=NM_001098175,NM_001164181,NM_001164178,NM_001164179,NM_001776,NM_001164182,NM_001164183;GI=ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1,ENTPD1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,29:56:99:761,0,692:57:99:0.518 chr10 99498234 rs3818876 G A 383.29 PASS BaseQRankSum=-0.417;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8937;MQ=59;MQ0=0;MQRankSum=0.950;QD=10.95;ReadPosRankSum=-0.583;SB=-103.89;TI=NM_001174120,NM_001174122,NM_001002262,NM_001174121,NM_144588,NM_001174119,NM_001002261;GI=ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,15:35:99:413,0,587:59:99:0.429 chr10 99504630 rs10882993 G T 5500.91 PASS BaseQRankSum=0.515;DP=205;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6556;MQ=56;MQ0=0;MQRankSum=0.921;QD=26.83;ReadPosRankSum=-1.732;SB=-3171.11;TI=NM_001174120,NM_001174122,NM_001002262,NM_001174121,NM_144588,NM_001174119,NM_001002261;GI=ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27;FC=Silent,Silent,Missense_G138V,Missense_G40V,Missense_G138V,Missense_G106V,Missense_G138V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,204:205:99:5501,357,0:56:99:0.995 chr10 100184062 rs2296433 C A 921.77 PASS BaseQRankSum=-1.258;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7880;MQ=54;MQ0=0;MQRankSum=2.355;QD=10.36;ReadPosRankSum=-0.111;SB=-462.47;TI=NM_000195;GI=HPS1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,40:89:99:952,0,1286:54:99:0.449 chr10 100184063 rs2296432 C G 978.72 PASS BaseQRankSum=-1.515;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=55;MQ0=0;MQRankSum=2.050;QD=10.87;ReadPosRankSum=-0.413;SB=-501.87;TI=NM_000195;GI=HPS1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,41:90:99:1009,0,1299:55:99:0.456 chr10 100219374 rs10883100 T A 1345.84 PASS BaseQRankSum=1.696;DP=139;Dels=0.01;FS=0.000;HRun=4;HaplotypeScore=8.1642;MQ=53;MQ0=0;MQRankSum=2.075;QD=9.68;ReadPosRankSum=1.335;SB=-926.74;TI=NM_001166245,NM_001166246,NM_001166244,NM_021828;GI=HPSE2,HPSE2,HPSE2,HPSE2;FC=Missense_Y467F,Silent,Missense_Y521F,Missense_Y579F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,58:137:99:1376,0,1758:53:99:0.426 chr10 101293035 rs41290504 C A 3043.91 PASS BaseQRankSum=1.697;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8823;MQ=58;MQ0=0;MQRankSum=-0.424;QD=30.75;ReadPosRankSum=-0.460;SB=-1879.29;TI=NM_145285;GI=NKX2-3;FC=Synonymous_A49A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,97:99:99:3077,229,0:58:99:0.990 chr10 101295260 . T C 12.51 SB;LowDP BaseQRankSum=0.358;DP=5;Dels=0.00;FS=10.000;HRun=1;HaplotypeScore=0.0000;MQ=49;MQ0=0;MQRankSum=-1.231;QD=2.50;ReadPosRankSum=-0.358;SB=-1.25;TI=NM_145285;GI=NKX2-3;FC=Missense_C293R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,2:5:42.25:42,0,104:49:13:0.400 chr10 101295261 . G T 12.51 SB;LowDP BaseQRankSum=-1.231;DP=5;Dels=0.00;FS=10.000;HRun=1;HaplotypeScore=0.0000;MQ=49;MQ0=0;MQRankSum=-1.231;QD=2.50;ReadPosRankSum=-0.358;SB=-1.25;TI=NM_145285;GI=NKX2-3;FC=Missense_C293F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,2:5:42.25:42,0,103:49:13:0.400 chr10 101295262 . T G 15.39 SB;LowDP BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=4.771;HRun=1;HaplotypeScore=0.0000;MQ=46;MQ0=0;MQRankSum=-1.026;QD=3.85;ReadPosRankSum=-1.026;SB=-1.25;TI=NM_145285;GI=NKX2-3;FC=Missense_C293W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:45.26:45,0,68:46:15:0.500 chr10 101473218 rs2231687 A G 3947.93 PASS DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8100;MQ=53;MQ0=0;QD=27.61;SB=-2631.96;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Missense_F374L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:143:99:3948,280,0:53:99:1.000 chr10 101544447 rs927344 A T 4281.91 PASS DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5658;MQ=51;MQ0=0;QD=25.64;SB=-3265.58;TI=NM_000392;GI=ABCC2;FC=Missense_Y39F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:167:99:4282,298,0:51:99:1.000 chr10 101563815 rs2273697 G A 1534.28 PASS BaseQRankSum=0.235;DP=111;Dels=0.00;FS=1.554;HRun=0;HaplotypeScore=4.8907;MQ=58;MQ0=0;MQRankSum=0.098;QD=13.82;ReadPosRankSum=-0.977;SB=-930.57;TI=NM_000392;GI=ABCC2;FC=Missense_V417I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,62:111:99:1564,0,1174:58:99:0.559 chr10 101841153 rs10883439 A G 1116.00 PASS DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=27.22;SB=-525.20;TI=NM_001308;GI=CPN1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:84.26:1149,84,0:55:84:1.000 chr10 101977883 rs2230804 C T 191.04 PASS BaseQRankSum=-0.232;DP=31;Dels=0.00;FS=1.609;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=-1.542;QD=6.16;ReadPosRankSum=-1.416;SB=-119.86;TI=NM_001278;GI=CHUK;FC=Missense_V268I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,10:31:99:221,0,522:55:99:0.323 chr10 102506070 rs4472867 G C 2447.86 PASS DP=95;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=47;MQ0=0;QD=25.77;SB=-1726.05;TI=NM_003990,NM_003987,NM_000278,NM_003988,NM_003989;GI=PAX2,PAX2,PAX2,PAX2,PAX2;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:2481,175,0:47:99:1.000 chr10 102743675 . A C 264.00 SB BaseQRankSum=-4.933;DP=129;Dels=0.00;FS=63.153;HRun=5;HaplotypeScore=64.7223;MQ=50;MQ0=0;MQRankSum=-4.038;QD=2.05;ReadPosRankSum=0.584;SB=-0.01;TI=NM_017893,NM_176792,NM_176793,NM_176794;GI=SEMA4G,MRPL43,MRPL43,MRPL43;FC=Synonymous_P773P,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,31:129:99:294,0,2573:50:99:0.242 chr10 102743678 . G C 22.94 SB BaseQRankSum=-6.211;DP=126;Dels=0.00;FS=45.608;HRun=5;HaplotypeScore=66.7287;MQ=50;MQ0=0;MQRankSum=-4.504;QD=0.18;ReadPosRankSum=1.564;SB=-0.01;TI=NM_017893,NM_176792,NM_176793,NM_176794;GI=SEMA4G,MRPL43,MRPL43,MRPL43;FC=Synonymous_P774P,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,28:126:52.92:53,0,2652:50:23:0.222 chr10 102743684 . A C 176.29 SB BaseQRankSum=-5.250;DP=132;Dels=0.00;FS=72.523;HRun=5;HaplotypeScore=86.7207;MQ=50;MQ0=0;MQRankSum=-3.119;QD=1.34;ReadPosRankSum=1.095;SB=-0.01;TI=NM_017893,NM_176792,NM_176793,NM_176794;GI=SEMA4G,MRPL43,MRPL43,MRPL43;FC=Synonymous_P776P,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,31:132:99:206,0,2805:50:99:0.235 chr10 102743687 . G C 87.77 SB BaseQRankSum=-6.002;DP=132;Dels=0.00;FS=60.810;HRun=2;HaplotypeScore=90.8920;MQ=50;MQ0=0;MQRankSum=-5.105;QD=0.66;ReadPosRankSum=1.680;SB=-0.01;TI=NM_017893,NM_176792,NM_176793,NM_176794;GI=SEMA4G,MRPL43,MRPL43,MRPL43;FC=Synonymous_P777P,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,31:132:99:118,0,2698:50:88:0.235 chr10 102743690 . A C 51.64 SB BaseQRankSum=-5.876;DP=131;Dels=0.00;FS=46.418;HRun=2;HaplotypeScore=96.1441;MQ=50;MQ0=0;MQRankSum=-4.219;QD=0.39;ReadPosRankSum=1.979;SB=-0.01;TI=NM_017893,NM_176792,NM_176793,NM_176794;GI=SEMA4G,MRPL43,MRPL43,MRPL43;FC=Synonymous_P778P,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,28:131:81.64:82,0,2783:50:52:0.214 chr10 102743693 . G C 9.26 LowGQX;LowVariantFreq;SB BaseQRankSum=-4.165;DP=131;Dels=0.00;FS=35.058;HRun=2;HaplotypeScore=160.1748;MQ=50;MQ0=0;MQRankSum=-4.350;QD=0.07;ReadPosRankSum=1.878;SB=-0.01;TI=NM_017893,NM_176792,NM_176793,NM_176794;GI=SEMA4G,MRPL43,MRPL43,MRPL43;FC=Synonymous_P779P,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,19:131:38.71:39,0,2859:50:9:0.146 chr10 102744331 rs11591349 A T 7397.41 PASS BaseQRankSum=0.816;DP=258;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.2512;MQ=56;MQ0=0;MQRankSum=-1.066;QD=28.67;ReadPosRankSum=0.379;SB=-3816.99;TI=NM_017893,NM_176792,NM_176793,NM_176794;GI=SEMA4G,MRPL43,MRPL43,MRPL43;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,254:258:99:7397,481,0:56:99:0.988 chr10 102770082 rs807023 T G 1567.44 PASS BaseQRankSum=1.933;DP=142;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=1.7608;MQ=54;MQ0=0;MQRankSum=1.765;QD=11.04;ReadPosRankSum=1.000;SB=-829.63;TI=NM_001195263;GI=PDZD7;FC=Missense_N855T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,66:142:99:1597,0,1682:54:99:0.465 chr10 102770293 . T TGCTGCG 1045.54 PASS BaseQRankSum=1.470;DP=57;FS=4.034;HRun=0;HaplotypeScore=115.8712;MQ=54;MQ0=0;MQRankSum=-1.319;QD=18.34;ReadPosRankSum=0.691;SB=-136.97;TI=NM_001195263;GI=PDZD7;FC=2AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,15:57:99:1085,0,1757:54:99:0.278 chr10 102770327 rs807022 A G 290.99 PASS BaseQRankSum=0.892;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2021;MQ=50;MQ0=0;MQRankSum=-3.754;QD=7.66;ReadPosRankSum=0.708;SB=-60.68;TI=NM_001195263;GI=PDZD7;FC=Synonymous_R773R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,13:38:99:321,0,755:50:99:0.342 chr10 102783678 rs6584410 T C 1290.20 PASS DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.5015;MQ=55;MQ0=0;QD=28.67;SB=-694.57;TI=NM_001195263,NM_024895;GI=PDZD7,PDZD7;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,45:45:99:1323,99,0:55:99:1.000 chr10 103567665 . GA G 356.47 R8 BaseQRankSum=-0.399;DP=77;FS=2.145;HRun=14;HaplotypeScore=267.5089;MQ=50;MQ0=0;MQRankSum=1.111;QD=4.63;ReadPosRankSum=-0.515;SB=-122.41;TI=NM_001142434,NM_012215;GI=MGEA5,MGEA5;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,18:77:99:396,0,607:50:99:0.273 chr10 103991381 rs2281983 G A 586.25 PASS BaseQRankSum=-1.007;DP=52;Dels=0.00;FS=4.971;HRun=1;HaplotypeScore=4.5849;MQ=55;MQ0=0;MQRankSum=2.555;QD=11.27;ReadPosRankSum=-1.492;SB=-83.76;TI=NM_005029;GI=PITX3;FC=Synonymous_I95I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,21:52:99:616,0,874:55:99:0.404 chr10 104596924 rs6163 C A 1702.44 PASS BaseQRankSum=1.361;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4154;MQ=53;MQ0=0;MQRankSum=0.894;QD=11.43;ReadPosRankSum=-1.494;SB=-1194.23;TI=NM_000102;GI=CYP17A1;FC=Synonymous_S65S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,75:149:99:1732,0,1642:53:99:0.503 chr10 104596981 rs6162 G A 1807.74 PASS BaseQRankSum=-1.839;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5213;MQ=52;MQ0=0;MQRankSum=1.001;QD=12.73;ReadPosRankSum=2.362;SB=-1192.10;TI=NM_000102;GI=CYP17A1;FC=Synonymous_H46H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,75:142:99:1838,0,1414:52:99:0.528 chr10 104638723 rs11191439 T C 1036.82 PASS BaseQRankSum=1.699;DP=62;Dels=0.00;FS=3.778;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=0.449;QD=16.72;ReadPosRankSum=-0.360;SB=-639.94;TI=NR_037644,NM_020682;GI=C10orf32-AS3MT,AS3MT;FC=Silent,Missense_C334R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,40:62:99:1067,0,493:55:99:0.645 chr10 104814162 rs2275271 T C 1226.07 PASS BaseQRankSum=1.153;DP=80;Dels=0.00;FS=3.161;HRun=0;HaplotypeScore=0.9997;MQ=56;MQ0=0;MQRankSum=-0.303;QD=15.33;ReadPosRankSum=-0.020;SB=-518.97;TI=NM_017649,NM_199076;GI=CNNM2,CNNM2;FC=Synonymous_S614S,Synonymous_S614S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,47:80:99:1256,0,769:56:99:0.588 chr10 105215016 rs2986016 A G 593.62 PASS BaseQRankSum=-0.126;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5453;MQ=58;MQ0=0;MQRankSum=2.906;QD=14.13;ReadPosRankSum=-0.809;SB=-140.25;TI=NM_001001412;GI=CALHM1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,23:42:99:624,0,581:58:99:0.548 chr10 105218252 rs2986017 A G 1326.02 PASS BaseQRankSum=-0.562;DP=110;Dels=0.00;FS=2.561;HRun=1;HaplotypeScore=7.1661;MQ=56;MQ0=0;MQRankSum=1.533;QD=12.05;ReadPosRankSum=0.707;SB=-728.01;TI=NM_001001412;GI=CALHM1;FC=Missense_L86P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,51:110:99:1356,0,1521:56:99:0.468 chr10 105218359 rs2986018 T C 1476.62 PASS BaseQRankSum=0.416;DP=116;Dels=0.00;FS=2.452;HRun=1;HaplotypeScore=7.9606;MQ=58;MQ0=0;MQRankSum=1.081;QD=12.73;ReadPosRankSum=0.682;SB=-654.45;TI=NM_001001412;GI=CALHM1;FC=Synonymous_A50A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,53:116:99:1507,0,1710:58:99:0.457 chr10 105218476 . G A 1615.84 PASS BaseQRankSum=2.503;DP=134;Dels=0.00;FS=5.390;HRun=2;HaplotypeScore=7.5697;MQ=54;MQ0=0;MQRankSum=2.250;QD=12.06;ReadPosRankSum=-1.960;SB=-858.16;TI=NM_001001412;GI=CALHM1;FC=Synonymous_F11F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,68:134:99:1646,0,1566:54:99:0.507 chr10 105796399 rs2274098 G C 1743.30 PASS DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=57;MQ0=0;QD=27.67;SB=-1041.15;TI=NM_000494;GI=COL17A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1776,126,0:57:99:1.000 chr10 105796819 rs2476958 A G 2477.61 PASS DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7863;MQ=52;MQ0=0;QD=27.23;SB=-1678.13;TI=NM_000494;GI=COL17A1;FC=Synonymous_I1087I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2511,181,0:52:99:1.000 chr10 105798872 rs2274100 T C 2263.35 PASS DP=73;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=54;MQ0=0;QD=31.00;SB=-1264.80;TI=NM_000494;GI=COL17A1;FC=Synonymous_P968P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2296,169,0:54:99:1.000 chr10 105799216 rs2296219 G T 3050.63 PASS BaseQRankSum=1.699;DP=107;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.0880;MQ=55;MQ0=0;MQRankSum=1.699;QD=28.51;ReadPosRankSum=0.784;SB=-1396.52;TI=NM_000494;GI=COL17A1;FC=Synonymous_P961P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,105:107:99:3084,223,0:55:99:0.991 chr10 105801253 rs4918079 G A 2293.61 PASS BaseQRankSum=2.388;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=-0.297;QD=10.52;ReadPosRankSum=1.346;SB=-1590.64;TI=NM_000494;GI=COL17A1;FC=Synonymous_R865R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,101:218:99:2324,0,2860:55:99:0.463 chr10 105810400 rs805722 T C 4432.92 PASS DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3643;MQ=55;MQ0=0;QD=29.95;SB=-2083.69;TI=NM_000494;GI=COL17A1;FC=Missense_M703V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:148:99:4433,325,0:55:99:1.000 chr10 105816916 rs805698 C T 674.12 SB;LowDP DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=37.45;SB=-0.01;TI=NM_000494;GI=COL17A1;FC=Missense_G428S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,18:18:54.17:707,54,0:59:54:1.000 chr10 105819956 rs805701 G A 4407.71 PASS DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=53;MQ0=0;QD=27.38;SB=-2991.99;TI=NM_000494;GI=COL17A1;FC=Synonymous_A354A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,161:161:99:4408,313,0:53:99:1.000 chr10 105824333 rs805708 G A 1655.39 PASS BaseQRankSum=0.764;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.098;QD=26.28;ReadPosRankSum=0.255;SB=-877.44;TI=NM_000494;GI=COL17A1;FC=Missense_T210M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,61:63:81.65:1688,82,0:54:82:0.968 chr10 106022789 rs4925 C A 1561.78 PASS BaseQRankSum=2.489;DP=158;Dels=0.00;FS=4.745;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.332;QD=9.88;ReadPosRankSum=0.783;SB=-1170.29;TI=NM_001191003,NM_001191002,NM_004832;GI=GSTO1,GSTO1,GSTO1;FC=Missense_A112D,Silent,Missense_A140D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,71:158:99:1592,0,2139:53:99:0.449 chr10 106039185 rs156697 A G 1658.84 PASS BaseQRankSum=2.223;DP=139;Dels=0.00;FS=1.348;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=2.197;QD=11.93;ReadPosRankSum=-1.903;SB=-1161.51;TI=NM_001191013,NM_183239,NM_001191015,NM_001191014;GI=GSTO2,GSTO2,GSTO2,GSTO2;FC=Silent,Missense_N142D,Silent,Missense_N114D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,69:139:99:1689,0,1618:53:99:0.500 chr10 108338917 rs11192966 T C 848.09 PASS BaseQRankSum=0.138;DP=70;Dels=0.00;FS=0.927;HRun=0;HaplotypeScore=8.2385;MQ=58;MQ0=0;MQRankSum=1.039;QD=12.12;ReadPosRankSum=1.183;SB=-423.20;TI=NM_052918,NM_001013031;GI=SORCS1,SORCS1;FC=Silent,Missense_N1155S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,33:70:99:878,0,955:58:99:0.478 chr10 108489848 . T C 2299.31 PASS BaseQRankSum=2.549;DP=205;Dels=0.00;FS=1.091;HRun=0;HaplotypeScore=8.0468;MQ=53;MQ0=0;MQRankSum=1.292;QD=11.22;ReadPosRankSum=0.091;SB=-1375.54;TI=NM_052918,NM_001013031;GI=SORCS1,SORCS1;FC=Synonymous_E328E,Synonymous_E328E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,101:205:99:2329,0,2342:53:99:0.493 chr10 112360315 . G GT 68.85 R8 BaseQRankSum=1.296;DP=38;FS=3.427;HRun=17;HaplotypeScore=135.7870;MQ=49;MQ0=0;MQRankSum=0.071;QD=1.81;ReadPosRankSum=0.212;SB=-58.24;TI=NM_005445;GI=SMC3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,8:38:99:108,0,184:49:69:0.348 chr10 112361870 rs2419565 A G 2822.82 PASS DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7547;MQ=54;MQ0=0;QD=28.80;SB=-1718.33;TI=NM_005445;GI=SMC3;FC=Synonymous_S1013S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:98:99:2856,205,0:54:99:1.000 chr10 112543134 rs61735272 T C 937.73 PASS BaseQRankSum=0.236;DP=107;Dels=0.00;FS=1.593;HRun=1;HaplotypeScore=4.4704;MQ=51;MQ0=0;MQRankSum=1.501;QD=8.76;ReadPosRankSum=-0.865;SB=-632.56;TI=NM_001134363;GI=RBM20;FC=Missense_L429P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,46:107:99:968,0,1384:51:99:0.430 chr10 112572458 rs1417635 G C 5349.46 PASS BaseQRankSum=0.602;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=54;MQ0=0;MQRankSum=-0.529;QD=28.16;ReadPosRankSum=1.021;SB=-2706.03;TI=NM_001134363;GI=RBM20;FC=Missense_W768S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,189:190:99:5349,354,0:54:99:0.995 chr10 112590810 rs7070640 G C 1393.04 PASS DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=30.28;SB=-723.75;TI=NM_001134363;GI=RBM20;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:99:1426,102,0:54:99:1.000 chr10 112595719 rs942077 G C 2477.18 PASS DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.15;SB=-1600.25;TI=NM_001134363;GI=RBM20;FC=Missense_E1223Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2510,181,0:57:99:1.000 chr10 114186624 rs2256368 G A 3706.29 PASS DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.96;SB=-2042.05;TI=NM_203379,NM_203380,NM_016234;GI=ACSL5,ACSL5,ACSL5;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:128:99:3706,268,0:53:99:1.000 chr10 115334124 rs3740530 C T 4678.15 PASS DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=50;MQ0=0;QD=25.70;SB=-3265.75;TI=NM_001177660,NM_004132;GI=HABP2,HABP2;FC=Synonymous_H35H,Synonymous_H61H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,182:182:99:4678,328,0:50:99:1.000 chr10 116931101 rs5788096 C CTT 5335.26 PASS DP=112;FS=0.000;HRun=1;HaplotypeScore=40.0792;MQ=58;MQ0=1;QD=47.64;SB=-2183.07;TI=NM_207303;GI=ATRNL1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,103:110:99:5335,307,0:58:99:0.990 chr10 117075175 rs1953758 G A 5548.00 PASS DP=212;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0409;MQ=54;MQ0=0;QD=26.17;SB=-3869.60;TI=NM_207303;GI=ATRNL1;FC=Missense_S989N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,212:212:99:5548,394,0:54:99:1.000 chr10 117228794 rs10885721 A G 3612.52 PASS DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=25.80;SB=-2616.98;TI=NM_207303;GI=ATRNL1;FC=Synonymous_T1203T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,140:140:99:3613,253,0:52:99:1.000 chr10 117486763 rs2254619 G T 4996.22 PASS BaseQRankSum=1.693;DP=178;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3030;MQ=57;MQ0=0;MQRankSum=-0.876;QD=28.07;ReadPosRankSum=0.545;SB=-3221.08;TI=NM_207303;GI=ATRNL1;FC=Synonymous_L1267L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,177:178:99:4996,358,0:57:99:0.994 chr10 117884950 rs2245020 G A 9202.60 PASS DP=327;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.5638;MQ=55;MQ0=0;QD=28.14;SB=-6288.27;TI=NM_145793,NM_001145453,NM_005264;GI=GFRA1,GFRA1,GFRA1;FC=Synonymous_N179N,Synonymous_N179N,Synonymous_N184N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,327:327:99:9203,665,0:55:99:1.000 chr10 118891992 . GA G 126.92 LowVariantFreq;R8 BaseQRankSum=0.879;DP=93;FS=4.496;HRun=12;HaplotypeScore=266.9390;MQ=55;MQ0=0;MQRankSum=-0.753;QD=1.36;ReadPosRankSum=0.015;SB=-69.96;TI=NM_199131;GI=VAX1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,14:93:99:166,0,1333:55:99:0.177 chr10 118969353 rs363360 C T 2114.53 PASS BaseQRankSum=2.971;DP=161;Dels=0.00;FS=0.584;HRun=0;HaplotypeScore=5.4816;MQ=55;MQ0=0;MQRankSum=1.686;QD=13.13;ReadPosRankSum=1.554;SB=-1217.29;TI=NM_181840;GI=KCNK18;FC=Missense_A233V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,79:161:99:2145,0,2175:55:99:0.491 chr10 120353910 rs1613448 T C 4001.23 PASS DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3466;MQ=58;MQ0=0;QD=30.78;SB=-2360.20;TI=NM_004248;GI=PRLHR;FC=Missense_I283V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:4001,295,0:58:99:1.000 chr10 121086097 rs17098707 A T 1719.72 PASS BaseQRankSum=0.461;DP=144;Dels=0.00;FS=0.619;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-1.963;QD=11.94;ReadPosRankSum=-0.160;SB=-1145.82;TI=NM_005308;GI=GRK5;FC=Missense_Q41L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,77:144:99:1750,0,1721:53:99:0.535 chr10 121140321 rs2275036 C T 2895.77 PASS BaseQRankSum=-0.306;DP=210;Dels=0.00;FS=4.902;HRun=1;HaplotypeScore=11.8177;MQ=56;MQ0=0;MQRankSum=1.331;QD=13.79;ReadPosRankSum=0.987;SB=-1381.08;TI=NM_005308;GI=GRK5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,112:210:99:2926,0,2531:56:99:0.536 chr10 121196264 rs2230348 C T 436.63 PASS BaseQRankSum=-2.420;DP=36;Dels=0.00;FS=5.023;HRun=0;HaplotypeScore=1.8938;MQ=57;MQ0=0;MQRankSum=1.503;QD=12.13;ReadPosRankSum=0.395;SB=-177.37;TI=NM_005308;GI=GRK5;FC=Synonymous_N280N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,18:36:99:467,0,469:57:99:0.500 chr10 121196335 rs2230349 G A 428.99 PASS BaseQRankSum=1.636;DP=25;Dels=0.00;FS=2.114;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.470;QD=17.16;ReadPosRankSum=2.247;SB=-146.90;TI=NM_005308;GI=GRK5;FC=Missense_R304H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,15:25:99:459,0,291:57:99:0.600 chr10 121436362 rs196295 A G 3276.63 PASS BaseQRankSum=1.452;DP=267;Dels=0.00;FS=3.404;HRun=0;HaplotypeScore=6.6491;MQ=56;MQ0=0;MQRankSum=3.528;QD=12.27;ReadPosRankSum=1.063;SB=-1737.42;TI=NM_004281;GI=BAG3;FC=Synonymous_V432V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:138,129:267:99:3277,0,3591:56:99:0.483 chr10 122624679 rs10886789 G A 1184.43 PASS BaseQRankSum=2.817;DP=79;Dels=0.00;FS=1.900;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.965;QD=14.99;ReadPosRankSum=-0.114;SB=-545.26;TI=NM_018117;GI=WDR11;FC=Synonymous_T278T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,45:79:99:1214,0,821:52:99:0.570 chr10 122645376 rs7899928 A T 1468.01 PASS BaseQRankSum=0.897;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5484;MQ=53;MQ0=0;MQRankSum=-0.014;QD=10.27;ReadPosRankSum=0.524;SB=-1010.34;TI=NM_018117;GI=WDR11;FC=Synonymous_A633A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,66:143:99:1498,0,1829:53:99:0.462 chr10 122649482 rs2289337 A G 1396.24 PASS BaseQRankSum=1.556;DP=134;Dels=0.00;FS=2.269;HRun=0;HaplotypeScore=2.6823;MQ=52;MQ0=0;MQRankSum=1.664;QD=10.42;ReadPosRankSum=2.050;SB=-685.59;TI=NM_018117;GI=WDR11;FC=Synonymous_A768A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,58:134:99:1426,0,1733:52:99:0.433 chr10 122663585 rs1652727 G A 1669.65 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=26.09;SB=-1181.02;TI=NM_018117;GI=WDR11;FC=Synonymous_L986L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:64:99:1703,120,0:54:99:1.000 chr10 123298158 rs1047100 T C 1095.38 PASS BaseQRankSum=0.805;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3371;MQ=53;MQ0=0;MQRankSum=-1.376;QD=8.43;ReadPosRankSum=-2.734;SB=-715.59;TI=NM_001144914,NM_001144916,NM_001144915,NM_000141,NM_001144918,NM_001144917,NM_022970,NM_001144913,NM_001144919;GI=FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2;FC=Synonymous_V232V,Synonymous_V117V,Synonymous_V143V,Synonymous_V232V,Synonymous_V117V,Synonymous_V232V,Synonymous_V232V,Synonymous_V232V,Synonymous_V143V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,48:130:99:1125,0,1816:53:99:0.375 chr10 123310871 rs755793 A G 1776.11 PASS BaseQRankSum=1.828;DP=143;Dels=0.00;FS=5.337;HRun=0;HaplotypeScore=4.7174;MQ=51;MQ0=0;MQRankSum=-2.385;QD=12.42;ReadPosRankSum=0.136;SB=-1142.42;TI=NM_001144914,NM_001144916,NM_001144915,NM_000141,NM_001144918,NM_001144917,NM_022970,NM_001144913,NM_001144919;GI=FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2,FGFR2;FC=Missense_M186T,Missense_M71T,Missense_M97T,Missense_M186T,Missense_M71T,Missense_M186T,Missense_M186T,Missense_M186T,Missense_M97T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,80:143:99:1806,0,1665:51:99:0.559 chr10 124214251 rs10490923 G A 1137.05 PASS BaseQRankSum=1.182;DP=88;Dels=0.00;FS=5.680;HRun=0;HaplotypeScore=4.5658;MQ=50;MQ0=0;MQRankSum=-0.748;QD=12.92;ReadPosRankSum=2.051;SB=-683.53;TI=NM_001099667;GI=ARMS2;FC=Missense_R3H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,46:88:99:1167,0,1051:50:99:0.523 chr10 124214448 rs10490924 G T 2133.63 PASS BaseQRankSum=2.276;DP=158;Dels=0.00;FS=0.600;HRun=1;HaplotypeScore=10.9250;MQ=53;MQ0=0;MQRankSum=0.048;QD=13.50;ReadPosRankSum=-0.597;SB=-1428.31;TI=NM_001099667;GI=ARMS2;FC=Missense_A69S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,89:158:99:2164,0,1621:53:99:0.567 chr10 124221270 rs1049331 C T 174.19 SB;LowDP BaseQRankSum=-0.248;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.422;QD=19.35;ReadPosRankSum=0.248;SB=-0.01;TI=NM_002775;GI=HTRA1;FC=Synonymous_A34A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,6:9:87.64:204,0,88:55:88:0.667 chr10 124221276 rs2293870 G T 167.00 SB;LowDP BaseQRankSum=0.573;DP=9;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=0.248;QD=18.56;ReadPosRankSum=0.248;SB=-0.01;TI=NM_002775;GI=HTRA1;FC=Synonymous_G36G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,6:9:87.66:197,0,88:55:88:0.667 chr10 124271589 rs2672586 G A 2596.96 PASS DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=25.97;SB=-1904.89;TI=NM_002775;GI=HTRA1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:100:99:2630,187,0:53:99:1.000 chr10 124329672 rs3740220 T C 2886.82 PASS DP=110;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=26.24;SB=-2014.42;TI=NM_007329,NM_004406,NM_017579;GI=DMBT1,DMBT1,DMBT1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:2920,211,0:51:99:1.000 chr10 124329673 rs3740221 C T 2848.65 PASS DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=25.90;SB=-1984.23;TI=NM_007329,NM_004406,NM_017579;GI=DMBT1,DMBT1,DMBT1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:2882,208,0:51:99:1.000 chr10 124329710 rs11523871 C A 3098.76 PASS DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;QD=27.18;SB=-2003.68;TI=NM_007329,NM_004406,NM_017579;GI=DMBT1,DMBT1,DMBT1;FC=Missense_P42T,Missense_P42T,Missense_P42T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:114:99:3132,229,0:50:99:1.000 chr10 124330427 rs3013236 C T 826.23 PASS DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=25.04;SB=-562.39;TI=NM_007329,NM_004406,NM_017579;GI=DMBT1,DMBT1,DMBT1;FC=Missense_S54L,Missense_S54L,Missense_S54L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:63.20:859,63,0:54:63:1.000 chr10 124331867 rs7084792 C T 1771.71 PASS BaseQRankSum=1.619;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6796;MQ=54;MQ0=0;MQRankSum=-0.540;QD=29.04;ReadPosRankSum=-0.199;SB=-995.18;TI=NM_007329,NM_004406,NM_017579;GI=DMBT1,DMBT1,DMBT1;FC=Synonymous_T75T,Synonymous_T75T,Synonymous_T75T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,60:61:99:1805,132,0:54:99:0.984 chr10 124339332 rs3013245 T C 569.42 PASS DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=28.47;SB=-360.30;TI=NM_007329,NM_004406,NM_017579;GI=DMBT1,DMBT1,DMBT1;FC=Synonymous_H306H,Synonymous_H306H,Synonymous_H306H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,20:20:45.14:602,45,0:56:45:1.000 chr10 124390721 rs72836136 T C 791.63 PASS BaseQRankSum=0.512;DP=64;Dels=0.00;FS=0.962;HRun=1;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=0.108;QD=12.37;ReadPosRankSum=-0.593;SB=-390.79;TI=NM_007329,NM_004406,NM_017579;GI=DMBT1,DMBT1,DMBT1;FC=Synonymous_T1961T,Synonymous_T1333T,Synonymous_T1951T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,29:64:99:822,0,871:58:99:0.453 chr10 124402677 rs1052715 A G 2166.66 PASS BaseQRankSum=2.533;DP=192;Dels=0.00;FS=4.257;HRun=0;HaplotypeScore=5.2823;MQ=52;MQ0=0;MQRankSum=1.816;QD=11.28;ReadPosRankSum=-0.327;SB=-1068.41;TI=NM_007329,NM_004406,NM_017579;GI=DMBT1,DMBT1,DMBT1;FC=Synonymous_P2335P,Synonymous_P1707P,Synonymous_P2325P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,88:192:99:2197,0,2549:52:99:0.461 chr10 124800853 rs1140591 C T 720.18 PASS BaseQRankSum=2.694;DP=42;Dels=0.00;FS=1.315;HRun=0;HaplotypeScore=0.9894;MQ=55;MQ0=0;MQRankSum=1.823;QD=17.15;ReadPosRankSum=-0.109;SB=-390.90;TI=NM_001609;GI=ACADSB;FC=Synonymous_H213H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,29:42:99:750,0,344:55:99:0.690 chr10 124812685 . AT A 1531.58 LowGQ;R8 BaseQRankSum=-1.455;DP=77;FS=0.000;HRun=12;HaplotypeScore=79.9228;MQ=57;MQ0=0;MQRankSum=1.290;QD=19.89;ReadPosRankSum=-1.174;SB=-617.76;TI=NM_001609;GI=ACADSB;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:7,63:77:13.45:1573,13,0:57:13:0.900 chr10 126089434 rs11461 G A 1331.59 PASS BaseQRankSum=0.785;DP=98;Dels=0.00;FS=2.957;HRun=0;HaplotypeScore=4.4704;MQ=56;MQ0=0;MQRankSum=1.922;QD=13.59;ReadPosRankSum=0.522;SB=-399.49;TI=NM_000274,NM_001171814;GI=OAT,OAT;FC=Synonymous_N378N,Synonymous_N240N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,48:98:99:1362,0,1246:56:99:0.490 chr10 127737930 rs2292692 G A 2696.41 PASS BaseQRankSum=1.206;DP=208;Dels=0.00;FS=0.515;HRun=0;HaplotypeScore=4.5761;MQ=55;MQ0=0;MQRankSum=3.461;QD=12.96;ReadPosRankSum=0.875;SB=-1751.21;TI=NM_003474,NM_021641;GI=ADAM12,ADAM12;FC=Synonymous_P606P,Synonymous_P606P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,110:208:99:2726,0,2396:55:99:0.531 chr10 127753478 rs1278279 G A 3286.99 PASS BaseQRankSum=0.759;DP=213;Dels=0.00;FS=2.433;HRun=0;HaplotypeScore=7.1253;MQ=54;MQ0=0;MQRankSum=4.588;QD=15.43;ReadPosRankSum=2.315;SB=-2014.66;TI=NM_003474,NM_021641;GI=ADAM12,ADAM12;FC=Synonymous_N505N,Synonymous_N505N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,129:213:99:3287,0,1938:54:99:0.608 chr10 128019025 rs3740199 C G 1448.10 PASS BaseQRankSum=1.625;DP=107;Dels=0.00;FS=0.720;HRun=0;HaplotypeScore=6.6814;MQ=51;MQ0=0;MQRankSum=0.611;QD=13.53;ReadPosRankSum=0.279;SB=-947.37;TI=NM_003474,NM_021641;GI=ADAM12,ADAM12;FC=Missense_G48R,Missense_G48R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,59:107:99:1478,0,1031:51:99:0.551 chr10 135043802 rs7092433 C A 160.30 LowGQ;LowDP DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.72;SB=-40.01;TI=NM_003577;GI=UTF1;FC=Synonymous_R4R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:15.04:193,15,0:53:15:1.000 chr10 135237003 rs4077586 G A 254.22 LowDP BaseQRankSum=0.370;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=-0.555;QD=21.18;ReadPosRankSum=-0.185;SB=-137.30;TI=NM_001012508;GI=SPRN;FC=Synonymous_G61G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,9:12:78.05:284,0,78:55:78:0.750 chr10 135237060 rs2480253 A G 670.73 LowDP DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=35.30;SB=-40.01;TI=NM_001012508;GI=SPRN;FC=Synonymous_G42G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:19:54.17:704,54,0:57:54:1.000 chr10 135237166 rs2492666 G A 1626.92 PASS BaseQRankSum=-3.270;DP=138;Dels=0.00;FS=0.657;HRun=0;HaplotypeScore=7.1779;MQ=55;MQ0=1;MQRankSum=0.489;QD=11.79;ReadPosRankSum=1.011;SB=-927.03;TI=NM_001012508;GI=SPRN;FC=Missense_T7M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,73:138:99:1657,0,1493:55:99:0.529 chr10 135237196 rs4838682 C T 1737.55 PASS BaseQRankSum=-1.673;DP=169;Dels=0.00;FS=1.245;HRun=1;HaplotypeScore=8.9796;MQ=53;MQ0=1;MQRankSum=1.790;QD=10.28;ReadPosRankSum=0.149;SB=-1176.61;TI=NM_001012508;GI=SPRN;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,81:169:99:1768,0,1901:53:99:0.485 chr10 135347397 rs915909 T C 2031.55 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.83;SB=-1214.53;TI=NM_000773;GI=CYP2E1;FC=Synonymous_I321I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2065,147,0:54:99:1.000 chr10 135351362 rs2515641 T C 1702.28 PASS BaseQRankSum=2.499;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=1.297;QD=12.16;ReadPosRankSum=-0.292;SB=-1142.15;TI=NM_000773;GI=CYP2E1;FC=Synonymous_F421F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,73:140:99:1732,0,1515:57:99:0.521 chr11 299411 rs57285449 C G 1006.58 PASS BaseQRankSum=1.448;DP=70;Dels=0.00;FS=4.866;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.639;QD=14.38;ReadPosRankSum=-1.267;SB=-639.45;TI=NM_001025295;GI=IFITM5;FC=Missense_G27A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,43:70:99:1037,0,556:53:99:0.614 chr11 320606 . G T 466.29 LowVariantFreq BaseQRankSum=2.914;DP=215;Dels=0.00;FS=1.501;HRun=0;HaplotypeScore=6.1981;MQ=48;MQ0=7;MQRankSum=-6.525;QD=2.17;ReadPosRankSum=0.597;SB=-131.04;TI=NM_021034;GI=IFITM3;FC=Missense_P70T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:176,39:215:99:496,0,4674:48:99:0.181 chr11 320649 rs11553885 G A 448.71 LowVariantFreq BaseQRankSum=0.823;DP=188;Dels=0.00;FS=1.586;HRun=0;HaplotypeScore=5.4661;MQ=49;MQ0=4;MQRankSum=-6.827;QD=2.39;ReadPosRankSum=4.691;SB=-124.11;TI=NM_021034;GI=IFITM3;FC=Synonymous_P55P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:152,36:188:99:479,0,4259:49:99:0.191 chr11 320772 rs12252;rs56190331 A G 1080.69 PASS BaseQRankSum=0.457;DP=104;Dels=0.00;FS=2.838;HRun=0;HaplotypeScore=6.6039;MQ=54;MQ0=0;MQRankSum=1.661;QD=10.39;ReadPosRankSum=0.365;SB=-505.86;TI=NM_021034;GI=IFITM3;FC=Synonymous_S14S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,44:104:99:1111,0,1750:54:99:0.423 chr11 320805 rs1136853 G T 949.44 PASS BaseQRankSum=2.668;DP=82;Dels=0.00;FS=2.036;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=1.004;QD=11.58;ReadPosRankSum=0.705;SB=-381.25;TI=NM_021034;GI=IFITM3;FC=Missense_H3Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,36:82:99:979,0,1338:55:99:0.439 chr11 534242 rs12628 A G 626.28 PASS BaseQRankSum=3.750;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=46;MQ0=0;MQRankSum=-0.477;QD=8.58;ReadPosRankSum=2.001;SB=-471.58;TI=NM_005343,NM_176795,NM_001130442;GI=HRAS,HRAS,HRAS;FC=Synonymous_H27H,Synonymous_H27H,Synonymous_H27H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,30:73:99:656,0,995:46:99:0.411 chr11 613208 rs1131665 T C 833.90 PASS BaseQRankSum=1.551;DP=45;Dels=0.00;FS=6.711;HRun=0;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=1.988;QD=18.53;ReadPosRankSum=0.954;SB=-421.58;TI=NM_004031,NM_001572,NM_004029;GI=IRF7,IRF7,IRF7;FC=Missense_Q425R,Missense_Q412R,Missense_Q383R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,26:45:99:864,0,622:59:99:0.578 chr11 613297 rs1061505 T G 629.11 PASS BaseQRankSum=1.610;DP=45;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=2.7605;MQ=59;MQ0=0;MQRankSum=0.011;QD=13.98;ReadPosRankSum=0.674;SB=-194.28;TI=NM_004031,NM_001572,NM_004029;GI=IRF7,IRF7,IRF7;FC=Synonymous_G395G,Synonymous_G382G,Synonymous_G353G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,20:45:99:659,0,751:59:99:0.444 chr11 614318 rs1061502 T C 882.94 PASS BaseQRankSum=2.628;DP=80;Dels=0.00;FS=3.087;HRun=0;HaplotypeScore=10.9615;MQ=56;MQ0=0;MQRankSum=1.920;QD=11.04;ReadPosRankSum=-0.582;SB=-461.01;TI=NM_004031,NM_001572,NM_004029;GI=IRF7,IRF7,IRF7;FC=Missense_K192E,Missense_K179E,Missense_K179E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,35:80:99:913,0,1165:56:99:0.438 chr11 614864 rs1061501 C T 6359.20 PASS DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2475;MQ=52;MQ0=0;QD=28.77;SB=-4177.01;TI=NM_004031,NM_001572,NM_004029;GI=IRF7,IRF7,IRF7;FC=Synonymous_R122R,Synonymous_R109R,Synonymous_R109R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,220:221:99:6359,466,0:52:99:1.000 chr11 615010 rs12290989 G T 1821.27 PASS BaseQRankSum=0.224;DP=167;Dels=0.00;FS=15.799;HRun=1;HaplotypeScore=5.2093;MQ=56;MQ0=0;MQRankSum=0.153;QD=10.91;ReadPosRankSum=0.482;SB=-789.60;TI=NM_004031,NM_001572,NM_004029;GI=IRF7,IRF7,IRF7;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,73:167:99:1851,0,2595:56:99:0.437 chr11 615011 rs12272434 A T 1853.30 PASS BaseQRankSum=-0.221;DP=167;Dels=0.00;FS=15.902;HRun=0;HaplotypeScore=4.3152;MQ=56;MQ0=0;MQRankSum=-1.604;QD=11.10;ReadPosRankSum=0.403;SB=-788.74;TI=NM_004031,NM_001572,NM_004029;GI=IRF7,IRF7,IRF7;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,73:167:99:1883,0,2512:56:99:0.440 chr11 640090 rs3889692 G C 4.75 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.752;DP=12;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.5596;MQ=41;MQ0=0;MQRankSum=-1.182;QD=0.40;ReadPosRankSum=2.041;SB=-8.58;TI=NM_000797;GI=DRD4;FC=Missense_A281P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:32.97:33,0,271:41:5:0.167 chr11 640099 rs34662058 A G 53.62 LowDP BaseQRankSum=-0.278;DP=12;Dels=0.00;FS=2.398;HRun=1;HaplotypeScore=9.0179;MQ=41;MQ0=0;MQRankSum=-0.278;QD=4.47;ReadPosRankSum=0.278;SB=-41.07;TI=NM_000797;GI=DRD4;FC=Missense_S284G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,4:12:83.61:84,0,204:41:54:0.364 chr11 640119 rs762502 C T 182.30 LowDP BaseQRankSum=-1.000;DP=13;Dels=0.00;FS=2.817;HRun=0;HaplotypeScore=2.5310;MQ=44;MQ0=1;MQRankSum=0.831;QD=14.02;ReadPosRankSum=0.380;SB=-24.41;TI=NM_000797;GI=DRD4;FC=Synonymous_C290C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,7:13:99:212,0,115:44:99:0.538 chr11 653968 rs7109335 T C 1048.61 PASS BaseQRankSum=1.359;DP=107;Dels=0.00;FS=6.253;HRun=0;HaplotypeScore=2.6274;MQ=50;MQ0=0;MQRankSum=2.570;QD=9.80;ReadPosRankSum=-1.233;SB=-657.71;TI=NM_021008;GI=DEAF1;FC=Synonymous_Q529Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,47:107:99:1079,0,1365:50:99:0.439 chr11 694957 . C A 10.73 LowVariantFreq;SB;LowDP BaseQRankSum=-1.532;DP=12;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=5.1076;MQ=54;MQ0=0;MQRankSum=0.354;QD=0.89;ReadPosRankSum=1.061;SB=-0.01;TI=NM_021008;GI=DEAF1;FC=Missense_A31S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,2:12:40.34:40,0,247:54:11:0.182 chr11 792692 . G C 1279.16 PASS BaseQRankSum=0.460;DP=94;Dels=0.00;FS=4.141;HRun=1;HaplotypeScore=18.3302;MQ=55;MQ0=0;MQRankSum=1.373;QD=13.61;ReadPosRankSum=0.247;SB=-640.69;TI=NM_024698,NM_001191060,NM_001191061;GI=SLC25A22,SLC25A22,SLC25A22;FC=Missense_L150V,Missense_L150V,Missense_L150V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,52:94:99:1309,0,930:55:99:0.553 chr11 823809 rs1135628 C G 3654.89 PASS BaseQRankSum=1.703;DP=119;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=27.9498;MQ=51;MQ0=0;MQRankSum=1.615;QD=30.71;ReadPosRankSum=1.673;SB=-2141.31;TI=NM_020376;GI=PNPLA2;FC=Synonymous_P291P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,117:119:99:3655,283,0:51:99:0.992 chr11 837582 rs1130663 G A 818.31 PASS BaseQRankSum=-0.593;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2011;MQ=55;MQ0=0;MQRankSum=0.553;QD=12.79;ReadPosRankSum=-0.027;SB=-465.51;TI=NM_004357,NM_139030,NM_001039490,NM_139029;GI=CD151,CD151,CD151,CD151;FC=Synonymous_G193G,Synonymous_G193G,Synonymous_G193G,Synonymous_G193G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,35:64:99:848,0,762:55:99:0.547 chr11 1013987 rs10902268 G A 3455.50 PASS BaseQRankSum=-0.013;DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6214;MQ=52;MQ0=0;MQRankSum=-1.517;QD=26.79;ReadPosRankSum=-0.175;SB=-2103.19;TI=NM_005961;GI=MUC6;FC=Missense_R2352W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,128:129:99:3455,215,0:52:99:0.992 chr11 1019375 rs9704308 C T 284.04 LowGQ;LowDP DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=28.40;SB=-40.01;TI=NM_005961;GI=MUC6;FC=Synonymous_A1310A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,10:10:24.08:317,24,0:60:24:1.000 chr11 1027174 rs79139625 G A 738.83 PASS BaseQRankSum=-0.615;DP=60;Dels=0.00;FS=15.378;HRun=1;HaplotypeScore=1.7333;MQ=58;MQ0=0;MQRankSum=0.945;QD=12.31;ReadPosRankSum=1.469;SB=-123.14;TI=NM_005961;GI=MUC6;FC=Synonymous_L751L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,25:60:99:769,0,1085:58:99:0.417 chr11 1027811 rs7481521 C T 6029.46 PASS BaseQRankSum=0.074;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7605;MQ=55;MQ0=0;MQRankSum=-1.240;QD=28.58;ReadPosRankSum=-1.125;SB=-4081.32;TI=NM_005961;GI=MUC6;FC=Missense_V619M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,210:211:99:6029,405,0:55:99:0.995 chr11 1081483 rs72655308 C T 2029.69 PASS BaseQRankSum=2.524;DP=217;Dels=0.00;FS=0.503;HRun=0;HaplotypeScore=16.4164;MQ=52;MQ0=0;MQRankSum=0.165;QD=9.35;ReadPosRankSum=-0.317;SB=-1451.22;TI=NM_002457;GI=MUC2;FC=Missense_R501W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,93:217:99:2060,0,3054:52:99:0.431 chr11 1090343 rs12221966 T C 1301.52 PASS BaseQRankSum=0.900;DP=127;Dels=0.00;FS=2.298;HRun=0;HaplotypeScore=9.1201;MQ=51;MQ0=0;MQRankSum=0.930;QD=10.25;ReadPosRankSum=2.184;SB=-831.65;TI=NM_002457;GI=MUC2;FC=Synonymous_C1213C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,62:127:99:1332,0,1541:51:99:0.492 chr11 1093710 rs7944723 C G 2252.41 PASS BaseQRankSum=2.243;DP=219;Dels=0.00;FS=0.507;HRun=0;HaplotypeScore=12.6718;MQ=49;MQ0=0;MQRankSum=1.154;QD=10.28;ReadPosRankSum=0.179;SB=-1539.75;TI=NM_002457;GI=MUC2;FC=Synonymous_P1839P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,101:219:99:2282,0,2852:49:99:0.461 chr11 1094690 rs10794291 C T 1478.81 PASS BaseQRankSum=0.920;DP=128;Dels=0.00;FS=1.417;HRun=0;HaplotypeScore=6.2038;MQ=50;MQ0=0;MQRankSum=-1.435;QD=11.55;ReadPosRankSum=0.777;SB=-992.39;TI=NM_002457;GI=MUC2;FC=Synonymous_T1922T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,65:128:99:1509,0,1650:50:99:0.508 chr11 1094753 rs10794292 A C 1920.81 PASS BaseQRankSum=1.026;DP=180;Dels=0.00;FS=1.878;HRun=4;HaplotypeScore=20.8863;MQ=51;MQ0=0;MQRankSum=1.825;QD=10.67;ReadPosRankSum=-1.222;SB=-1261.83;TI=NM_002457;GI=MUC2;FC=Synonymous_P1943P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,87:180:99:1951,0,2007:51:99:0.486 chr11 1096494 rs6421972 T C 1971.64 PASS BaseQRankSum=1.272;DP=156;Dels=0.01;FS=3.883;HRun=4;HaplotypeScore=9.2593;MQ=55;MQ0=0;MQRankSum=0.330;QD=12.64;ReadPosRankSum=-0.671;SB=-1217.53;TI=NM_002457;GI=MUC2;FC=Synonymous_C2169C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,83:154:99:2002,0,1811:55:99:0.539 chr11 1098637 rs12418069 A G 2203.14 PASS BaseQRankSum=0.162;DP=169;Dels=0.00;FS=4.615;HRun=0;HaplotypeScore=6.2221;MQ=54;MQ0=0;MQRankSum=2.739;QD=13.04;ReadPosRankSum=0.854;SB=-1060.12;TI=NM_002457;GI=MUC2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,88:169:99:2233,0,1903:54:99:0.521 chr11 1246941 rs2672785 A G 885.02 PASS BaseQRankSum=1.543;DP=73;Dels=0.00;FS=3.567;HRun=3;HaplotypeScore=18.2313;MQ=52;MQ0=0;MQRankSum=0.824;QD=12.12;ReadPosRankSum=-0.171;SB=-412.63;TI=NM_002458;GI=MUC5B;FC=Missense_E34G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,34:73:99:915,0,914:52:99:0.466 chr11 1247458 rs2075853 C T 740.45 PASS BaseQRankSum=0.937;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6152;MQ=54;MQ0=0;MQRankSum=0.664;QD=9.03;ReadPosRankSum=0.353;SB=-442.66;TI=NM_002458;GI=MUC5B;FC=Missense_R51W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,34:82:99:770,0,1192:54:99:0.415 chr11 1250488 rs2075859 C T 2173.21 PASS BaseQRankSum=0.552;DP=201;Dels=0.00;FS=1.750;HRun=0;HaplotypeScore=10.9658;MQ=51;MQ0=0;MQRankSum=-1.693;QD=10.81;ReadPosRankSum=-0.239;SB=-1542.67;TI=NM_002458;GI=MUC5B;FC=Synonymous_C355C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,101:201:99:2203,0,2282:51:99:0.505 chr11 1252708 rs2735709 G C 2983.41 PASS BaseQRankSum=1.863;DP=265;Dels=0.00;FS=4.932;HRun=0;HaplotypeScore=14.9730;MQ=55;MQ0=0;MQRankSum=0.720;QD=11.26;ReadPosRankSum=1.780;SB=-1950.74;TI=NM_002458;GI=MUC5B;FC=Synonymous_L532L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:138,125:265:99:3013,0,3210:55:99:0.475 chr11 1253401 rs12421917 C G 820.47 PASS BaseQRankSum=1.059;DP=105;Dels=0.01;FS=2.891;HRun=1;HaplotypeScore=5.5152;MQ=57;MQ0=0;MQRankSum=1.486;QD=7.81;ReadPosRankSum=-0.083;SB=-272.71;TI=NM_002458;GI=MUC5B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,35:104:99:850,0,1833:57:99:0.337 chr11 1253942 rs908229 T C 2702.06 PASS BaseQRankSum=3.013;DP=203;Dels=0.00;FS=0.526;HRun=0;HaplotypeScore=0.8667;MQ=52;MQ0=0;MQRankSum=-1.676;QD=13.31;ReadPosRankSum=-0.042;SB=-1645.46;TI=NM_002458;GI=MUC5B;FC=Synonymous_Y669Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,111:203:99:2732,0,2198:52:99:0.547 chr11 1255089 . CCCCTG C 1814.20 PASS BaseQRankSum=-0.887;DP=83;FS=2.212;HRun=0;HaplotypeScore=87.4514;MQ=50;MQ0=0;MQRankSum=-0.690;QD=21.86;ReadPosRankSum=2.054;SB=-691.37;TI=NM_002458;GI=MUC5B;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,30:83:99:1853,0,1670:50:99:0.361 chr11 1255773 rs7116614 C T 2458.98 PASS BaseQRankSum=1.598;DP=211;Dels=0.00;FS=0.517;HRun=0;HaplotypeScore=4.4374;MQ=51;MQ0=0;MQRankSum=0.757;QD=11.65;ReadPosRankSum=-1.783;SB=-1353.70;TI=NM_002458;GI=MUC5B;FC=Synonymous_C831C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,105:211:99:2489,0,2430:51:99:0.498 chr11 1432691 rs61868960 T C 3922.36 PASS DP=126;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.3371;MQ=55;MQ0=0;QD=31.13;SB=-2365.72;TI=NM_003957;GI=BRSK2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:3922,289,0:55:99:1.000 chr11 1462162 . AG A 1399.51 PASS BaseQRankSum=-0.842;DP=81;FS=3.034;HRun=2;HaplotypeScore=123.9119;MQ=54;MQ0=0;MQRankSum=1.352;QD=17.28;ReadPosRankSum=0.101;SB=-464.49;TI=NM_003957;GI=BRSK2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,40:81:99:1439,0,1415:54:99:0.500 chr11 1475706 rs55744154 A G 1262.73 PASS BaseQRankSum=0.547;DP=101;Dels=0.00;FS=1.695;HRun=0;HaplotypeScore=2.8936;MQ=56;MQ0=0;MQRankSum=0.540;QD=12.50;ReadPosRankSum=0.085;SB=-616.86;TI=NM_003957;GI=BRSK2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,50:101:99:1293,0,1360:56:99:0.495 chr11 1481930 rs4963048 A G 1829.36 PASS DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8329;MQ=48;MQ0=0;QD=25.77;SB=-710.56;TI=NM_003957;GI=BRSK2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:71:99:1862,144,0:48:99:1.000 chr11 1861760 rs907610 T C 4002.23 PASS DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3124;MQ=56;MQ0=0;QD=30.09;SB=-2286.69;TI=NM_003282,NM_001145829,NM_001145841;GI=TNNI2,TNNI2,TNNI2;FC=Synonymous_S20S,Synonymous_S20S,Synonymous_S20S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:4002,292,0:56:99:1.000 chr11 2016619 rs3741219 A G 3922.59 PASS DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=31.38;SB=-1307.08;TI=NR_002196;GI=H19;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3923,298,0:55:99:1.000 chr11 2016659 rs2839704 T C 7304.31 PASS DP=236;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7515;MQ=53;MQ0=0;QD=30.95;SB=-2625.94;TI=NR_002196;GI=H19;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,236:236:99:7304,545,0:53:99:1.000 chr11 2016662 rs2839703 T C 7470.38 PASS DP=235;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.6456;MQ=53;MQ0=0;QD=31.79;SB=-2846.82;TI=NR_002196;GI=H19;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,235:235:99:7470,551,0:53:99:1.000 chr11 2016924 rs10840159 A G 3320.84 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7257;MQ=58;MQ0=0;QD=37.31;SB=-242.55;TI=NR_002196;GI=H19;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:3321,256,0:58:99:1.000 chr11 2017017 rs2839702 A C 1690.36 PASS DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=37.56;SB=-671.15;TI=NR_002196;GI=H19;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,45:45:99:1723,135,0:57:99:1.000 chr11 2017110 rs2839701 C G 3358.09 PASS DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0430;MQ=55;MQ0=0;QD=30.53;SB=-1381.87;TI=NR_002196;GI=H19;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:3358,247,0:55:99:1.000 chr11 2018168 rs2067051 C T 6140.43 PASS BaseQRankSum=0.218;DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.5537;MQ=55;MQ0=0;MQRankSum=0.289;QD=29.52;ReadPosRankSum=0.655;SB=-2925.59;TI=NR_002196;GI=H19;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,206:208:99:6140,414,0:55:99:0.990 chr11 2018336 rs2075745 A T 3615.81 PASS BaseQRankSum=0.384;DP=113;Dels=0.00;FS=2.717;HRun=1;HaplotypeScore=2.7547;MQ=58;MQ0=0;MQRankSum=1.223;QD=32.00;ReadPosRankSum=1.009;SB=-915.90;TI=NR_002196;GI=H19;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,110:113:99:3616,197,0:58:99:0.973 chr11 2018449 rs2075744 A G 1939.61 PASS BaseQRankSum=2.015;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7547;MQ=53;MQ0=0;MQRankSum=1.470;QD=28.52;ReadPosRankSum=1.361;SB=-1170.54;TI=NR_002196;GI=H19;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,66:68:99:1973,109,0:53:99:0.971 chr11 2018853 rs2839698 G A 5976.75 PASS BaseQRankSum=1.657;DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.5011;MQ=56;MQ0=0;MQRankSum=1.713;QD=32.48;ReadPosRankSum=-1.054;SB=-1816.65;TI=NR_002196;GI=H19;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,183:184:99:5977,442,0:56:99:0.995 chr11 2182004 rs5506 A G 1307.91 PASS DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=27.83;SB=-618.54;TI=NR_003512,NM_001042376,NM_001185097,NM_000207,NM_001185098;GI=INS-IGF2,INS-IGF2,INS,INS,INS;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:96.32:1341,96,0:56:96:1.000 chr11 2187855 rs12419447 G C 2214.51 PASS DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4485;MQ=58;MQ0=0;QD=27.68;SB=-1515.76;TI=NM_199292,NM_199293,NM_000360;GI=TH,TH,TH;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2248,166,0:58:99:1.000 chr11 2188238 rs6357 C T 1791.91 PASS BaseQRankSum=2.695;DP=145;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.3262;MQ=54;MQ0=0;MQRankSum=3.451;QD=12.36;ReadPosRankSum=0.266;SB=-1139.39;TI=NM_199292,NM_199293,NM_000360;GI=TH,TH,TH;FC=Synonymous_K271K,Synonymous_K267K,Synonymous_K240K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,76:145:99:1822,0,1530:54:99:0.528 chr11 2190951 rs6356 C T 1084.09 PASS BaseQRankSum=1.269;DP=88;Dels=0.00;FS=0.803;HRun=0;HaplotypeScore=6.4080;MQ=57;MQ0=0;MQRankSum=1.912;QD=12.32;ReadPosRankSum=0.618;SB=-660.33;TI=NM_199292,NM_199293,NM_000360;GI=TH,TH,TH;FC=Missense_V112M,Missense_V108M,Missense_V81M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,43:88:99:1114,0,1257:57:99:0.489 chr11 2424684 rs2234283 A C 3686.40 PASS DP=107;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7262;MQ=55;MQ0=0;QD=34.45;SB=-2025.88;TI=NM_005706;GI=TSSC4;FC=Missense_H274P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:107:99:3686,274,0:55:99:1.000 chr11 2594192 . C T 719.91 PASS BaseQRankSum=-0.838;DP=62;Dels=0.00;FS=0.960;HRun=0;HaplotypeScore=0.9998;MQ=55;MQ0=0;MQRankSum=0.810;QD=11.61;ReadPosRankSum=0.331;SB=-396.14;TI=NM_000218,NM_181798;GI=KCNQ1,KCNQ1;FC=Synonymous_Y299Y,Synonymous_Y172Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,30:62:99:750,0,788:55:99:0.484 chr11 2869188 rs11601907 C T 4910.78 PASS BaseQRankSum=1.486;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.6094;MQ=52;MQ0=0;MQRankSum=1.377;QD=27.13;ReadPosRankSum=-0.455;SB=-2767.40;TI=NM_000218,NM_181798;GI=KCNQ1,KCNQ1;FC=Synonymous_Y662Y,Synonymous_Y535Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,179:181:99:4911,319,0:52:99:0.989 chr11 2869466 . C A 4.97 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.075;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7314;MQ=57;MQ0=0;MQRankSum=0.671;QD=0.29;ReadPosRankSum=1.863;SB=-0.01;TI=NM_000218,NM_181798;GI=KCNQ1,KCNQ1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,2:17:33.30:33,0,476:57:5:0.118 chr11 4103524 rs2304891 A G 1327.07 PASS BaseQRankSum=0.077;DP=121;Dels=0.00;FS=7.153;HRun=0;HaplotypeScore=2.7748;MQ=54;MQ0=0;MQRankSum=1.587;QD=10.97;ReadPosRankSum=-1.275;SB=-546.71;TI=NM_003156;GI=STIM1;FC=Synonymous_Q360Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,49:121:99:1357,0,1750:54:99:0.405 chr11 4141132 rs183484 C A 1072.20 PASS BaseQRankSum=1.403;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;MQRankSum=0.789;QD=10.83;ReadPosRankSum=3.896;SB=-647.66;TI=NM_001033;GI=RRM1;FC=Synonymous_R284R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,44:99:99:1102,0,1297:50:99:0.449 chr11 4159457 rs9937 A G 601.94 PASS BaseQRankSum=-1.726;DP=76;Dels=0.00;FS=0.909;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-0.402;QD=7.92;ReadPosRankSum=0.771;SB=-335.41;TI=NM_001033;GI=RRM1;FC=Synonymous_T741T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,27:76:99:632,0,1307:56:99:0.355 chr11 4159466 rs1042858 G A 538.73 PASS BaseQRankSum=1.208;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.384;QD=7.18;ReadPosRankSum=0.529;SB=-315.52;TI=NM_001033;GI=RRM1;FC=Synonymous_A744A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,26:75:99:569,0,1308:56:99:0.347 chr11 5248243 rs713040 A G 2892.91 PASS BaseQRankSum=1.131;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9829;MQ=56;MQ0=0;MQRankSum=-1.241;QD=25.60;ReadPosRankSum=-0.670;SB=-1764.67;TI=NM_000518;GI=HBB;FC=Synonymous_H3H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,110:113:99:2926,172,0:56:99:0.982 chr11 5270686 rs1061234 G A 274.31 SB;LowDP DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=21;MQ0=6;QD=17.14;SB=-0.01;TI=NM_000559;GI=HBG1;FC=Missense_T76I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,16:16:30.05:307,30,0:21:30:1.000 chr11 5686266 rs28381981 G A 2796.72 PASS BaseQRankSum=3.071;DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.8194;MQ=56;MQ0=0;MQRankSum=1.425;QD=12.65;ReadPosRankSum=0.459;SB=-1670.66;TI=NR_002777,NM_033093,NM_033092,NM_033034;GI=TRIM78P,TRIM5,TRIM5,TRIM5;FC=Silent,Silent,Silent,Missense_H419Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,104:221:99:2827,0,3089:56:99:0.473 chr11 5687320 . T TA 354.62 R8 BaseQRankSum=-0.715;DP=49;FS=0.000;HRun=17;HaplotypeScore=98.4128;MQ=56;MQ0=0;MQRankSum=1.774;QD=7.24;ReadPosRankSum=0.858;SB=-114.15;TI=NR_002777,NM_033093,NM_033092,NM_033034;GI=TRIM78P,TRIM5,TRIM5,TRIM5;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,24:49:31.07:394,0,31:56:31:0.727 chr11 5701281 rs3740996 G A 2472.23 PASS BaseQRankSum=1.598;DP=206;Dels=0.00;FS=7.983;HRun=0;HaplotypeScore=10.3290;MQ=52;MQ0=0;MQRankSum=0.929;QD=12.00;ReadPosRankSum=0.695;SB=-1435.94;TI=NM_033093,NM_033092,NM_033034;GI=TRIM5,TRIM5,TRIM5;FC=Missense_H43Y,Missense_H43Y,Missense_H43Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,102:206:99:2502,0,2414:52:99:0.495 chr11 5701409 rs3824949 G C 983.01 PASS BaseQRankSum=0.239;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=57;MQ0=0;MQRankSum=-0.082;QD=10.57;ReadPosRankSum=-0.867;SB=-286.23;TI=NM_033093,NM_033092,NM_033034;GI=TRIM5,TRIM5,TRIM5;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,37:93:99:1013,0,1466:57:99:0.398 chr11 5717762 rs10838543 T C 2248.19 PASS BaseQRankSum=-0.682;DP=187;Dels=0.00;FS=1.147;HRun=0;HaplotypeScore=9.1505;MQ=54;MQ0=0;MQRankSum=-1.225;QD=12.02;ReadPosRankSum=-0.372;SB=-1514.00;TI=NM_006074,NM_001199573;GI=TRIM22,TRIM22;FC=Synonymous_H100H,Synonymous_H100H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,94:187:99:2278,0,2263:54:99:0.503 chr11 5718517 rs7935564 G A 1051.52 PASS BaseQRankSum=1.234;DP=102;Dels=0.00;FS=0.738;HRun=1;HaplotypeScore=3.8917;MQ=50;MQ0=0;MQRankSum=0.057;QD=10.31;ReadPosRankSum=-0.709;SB=-697.24;TI=NM_006074,NM_001199573;GI=TRIM22,TRIM22;FC=Missense_D155N,Missense_D155N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,46:102:99:1082,0,1330:50:99:0.451 chr11 5719667 rs2291842 T C 1833.54 PASS BaseQRankSum=1.920;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=56;MQ0=0;MQRankSum=1.838;QD=11.83;ReadPosRankSum=1.952;SB=-1047.94;TI=NM_006074,NM_001199573;GI=TRIM22,TRIM22;FC=Synonymous_D214D,Synonymous_D210D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,78:155:99:1864,0,1878:56:99:0.503 chr11 5719750 rs1063303 G C 2065.25 PASS BaseQRankSum=2.128;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6817;MQ=54;MQ0=0;MQRankSum=1.098;QD=15.07;ReadPosRankSum=-0.137;SB=-888.15;TI=NM_006074,NM_001199573;GI=TRIM22,TRIM22;FC=Missense_R242T,Missense_R238T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,78:137:99:2095,0,1490:54:99:0.569 chr11 6411935 rs1050228 T C 2473.02 PASS BaseQRankSum=0.913;DP=188;Dels=0.00;FS=0.579;HRun=0;HaplotypeScore=344.1664;MQ=56;MQ0=0;MQRankSum=2.245;QD=13.15;ReadPosRankSum=0.375;SB=-1036.55;TI=NM_000543,NM_001007593;GI=SMPD1,SMPD1;FC=Missense_V36A,Missense_V36A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,95:188:99:2503,0,2327:56:99:0.522 chr11 6411935 rs71796847 TGCTGGC T 4893.90 PASS BaseQRankSum=-9.504;DP=188;FS=2.137;HRun=0;HaplotypeScore=460.0279;MQ=56;MQ0=0;MQRankSum=-1.119;QD=26.03;ReadPosRankSum=-0.519;SB=-2244.09;TI=NM_000543,NM_001007593;GI=SMPD1,SMPD1;FC=2AA_Deletion,2AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:133,53:188:99:4894,0,5050:56:99:0.285 chr11 6415463 rs1050239 G A 183.78 LowDP BaseQRankSum=1.568;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.633;QD=18.38;ReadPosRankSum=0.633;SB=-69.26;TI=NM_000543,NM_001007593;GI=SMPD1,SMPD1;FC=Missense_G508R,Missense_G507R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,6:10:99:214,0,132:60:99:0.600 chr11 6629665 rs1043388 C T 1472.19 PASS BaseQRankSum=2.318;DP=94;Dels=0.00;FS=1.709;HRun=0;HaplotypeScore=2.6548;MQ=54;MQ0=0;MQRankSum=1.471;QD=15.66;ReadPosRankSum=0.938;SB=-893.45;TI=NM_004517,NM_001014794,NM_001014795;GI=ILK,ILK,ILK;FC=Synonymous_H99H,Synonymous_H99H,Synonymous_H99H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,53:94:99:1502,0,1059:54:99:0.564 chr11 6630028 rs66487903 TC T 2604.37 PASS DP=71;FS=0.000;HRun=5;HaplotypeScore=58.1249;MQ=57;MQ0=0;QD=36.68;SB=-953.95;TI=NM_004517,NM_001014794,NM_001014795;GI=ILK,ILK,ILK;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,68:71:99:2646,208,0:57:99:0.958 chr11 6630833 rs1043390 G A 1808.98 PASS BaseQRankSum=0.869;DP=148;Dels=0.00;FS=2.062;HRun=0;HaplotypeScore=7.4185;MQ=51;MQ0=0;MQRankSum=0.715;QD=12.22;ReadPosRankSum=-0.040;SB=-1174.16;TI=NM_004517,NM_001014794,NM_001014795;GI=ILK,ILK,ILK;FC=Synonymous_P273P,Synonymous_P273P,Synonymous_P273P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,74:148:99:1839,0,1828:51:99:0.500 chr11 6631016 rs2292195 C T 1512.20 PASS BaseQRankSum=0.407;DP=121;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8888;MQ=55;MQ0=0;MQRankSum=-0.770;QD=12.50;ReadPosRankSum=-1.293;SB=-728.71;TI=NM_004517,NM_001014794,NM_001014795;GI=ILK,ILK,ILK;FC=Synonymous_A306A,Synonymous_A306A,Synonymous_A306A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,60:121:99:1542,0,1690:55:99:0.496 chr11 6637739 . ATT A,AT 782.06 R8 BaseQRankSum=-0.021;DP=63;FS=2.359;HaplotypeScore=212.6296;MQ=46;MQ0=0;MQRankSum=0.813;QD=12.41;ReadPosRankSum=-1.397;SB=-320.61;TI=NM_000391;GI=TPP1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:22,14,1:62:99:860,232,227,392,0,304:46:99:0.405 chr11 7059960 rs12801277 A C 8062.49 PASS DP=274;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=55;MQ0=0;QD=29.43;SB=-5311.69;TI=NM_176822;GI=NLRP14;FC=Missense_N48T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,273:273:99:8062,584,0:55:99:1.000 chr11 7063755 rs7123944 C T 3024.26 PASS DP=106;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.53;SB=-1781.33;TI=NM_176822;GI=NLRP14;FC=Synonymous_F166F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:3057,220,0:55:99:1.000 chr11 7071031 rs1552726 G A 5041.94 PASS DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.66;SB=-2905.69;TI=NM_176822;GI=NLRP14;FC=Synonymous_E751E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:170:99:5042,364,0:55:99:1.000 chr11 7110751 rs11041171 A G 696.50 PASS DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=30.28;SB=-207.34;TI=NM_014469;GI=RBMXL2;FC=Missense_T134A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,23:23:54.16:730,54,0:55:54:1.000 chr11 8435077 rs3751095 C T 4069.67 PASS BaseQRankSum=-0.594;DP=138;Dels=0.00;FS=3.042;HRun=0;HaplotypeScore=5.4918;MQ=55;MQ0=0;MQRankSum=-0.139;QD=29.49;ReadPosRankSum=-0.190;SB=-2622.83;TI=NM_030906;GI=STK33;FC=Missense_A437T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,136:138:99:4070,260,0:55:99:0.993 chr11 8435078 rs3751096 A C 4089.01 PASS BaseQRankSum=-1.533;DP=139;Dels=0.00;FS=3.042;HRun=1;HaplotypeScore=6.3859;MQ=55;MQ0=0;MQRankSum=0.760;QD=29.42;ReadPosRankSum=-0.212;SB=-2631.51;TI=NM_030906;GI=STK33;FC=Missense_D436E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,138:139:99:4089,263,0:55:99:0.993 chr11 8486310 rs1446464 C A 1120.20 PASS BaseQRankSum=-0.104;DP=111;Dels=0.00;FS=1.632;HRun=0;HaplotypeScore=8.1246;MQ=52;MQ0=0;MQRankSum=0.240;QD=10.09;ReadPosRankSum=-0.210;SB=-529.90;TI=NM_030906;GI=STK33;FC=Synonymous_A133A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,50:111:99:1150,0,1325:52:99:0.450 chr11 8486375 . G GA 135.21 LowVariantFreq;R8 BaseQRankSum=0.466;DP=60;FS=0.000;HRun=13;HaplotypeScore=182.2864;MQ=55;MQ0=0;MQRankSum=0.615;QD=2.25;ReadPosRankSum=-1.772;SB=-52.16;TI=NM_030906;GI=STK33;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,9:60:99:174,0,646:55:99:0.173 chr11 8751640 rs3812762 G C 1042.86 PASS BaseQRankSum=0.250;DP=78;Dels=0.00;FS=3.326;HRun=0;HaplotypeScore=9.9081;MQ=57;MQ0=0;MQRankSum=-0.941;QD=13.37;ReadPosRankSum=1.011;SB=-475.10;TI=NM_213618,NM_139157,NM_005418;GI=ST5,ST5,ST5;FC=Missense_D399E,Silent,Missense_D399E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,41:78:99:1073,0,1042:57:99:0.526 chr11 8752598 rs61751342 G C 1720.58 PASS BaseQRankSum=-0.329;DP=128;Dels=0.00;FS=0.683;HRun=0;HaplotypeScore=9.0071;MQ=58;MQ0=0;MQRankSum=0.095;QD=13.44;ReadPosRankSum=-0.062;SB=-857.45;TI=NM_213618,NM_139157,NM_005418;GI=ST5,ST5,ST5;FC=Missense_P80R,Silent,Missense_P80R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,67:128:99:1751,0,1595:58:99:0.523 chr11 9051475 rs3751057 G C 2367.13 PASS BaseQRankSum=3.652;DP=209;Dels=0.00;FS=0.511;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=3.201;QD=11.33;ReadPosRankSum=1.562;SB=-1581.14;TI=NM_001170690,NM_020974;GI=SCUBE2,SCUBE2;FC=Missense_T665S,Missense_T763S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,98:209:99:2397,0,2566:54:99:0.469 chr11 9052423 rs7395988 A C 7651.91 PASS DP=264;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5596;MQ=54;MQ0=0;QD=28.98;SB=-4710.02;TI=NM_001170690,NM_020974;GI=SCUBE2,SCUBE2;FC=Missense_H586Q,Missense_H684Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,264:264:99:7652,551,0:54:99:1.000 chr11 9068979 rs72550808 A G 376.66 PASS BaseQRankSum=1.621;DP=43;Dels=0.00;FS=1.328;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-0.415;QD=8.76;ReadPosRankSum=1.520;SB=-164.56;TI=NM_001170690,NM_020974;GI=SCUBE2,SCUBE2;FC=Synonymous_A487A,Synonymous_A642A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,16:43:99:407,0,732:56:99:0.372 chr11 9087533 rs2003906 A G 1538.90 PASS BaseQRankSum=-0.697;DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5981;MQ=52;MQ0=0;MQRankSum=-0.857;QD=24.82;ReadPosRankSum=-0.657;SB=-1024.29;TI=NM_001170690,NM_020974;GI=SCUBE2,SCUBE2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,60:62:72.62:1572,73,0:52:73:0.968 chr11 9112950 . C T 4.59 LowGQX;LowDP BaseQRankSum=0.198;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=54;MQ0=0;MQRankSum=0.922;QD=0.66;ReadPosRankSum=0.198;SB=-27.29;TI=NM_001170690,NM_020974;GI=SCUBE2,SCUBE2;FC=Synonymous_P42P,Synonymous_P42P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,2:7:32.73:33,0,115:54:5:0.286 chr11 9113002 rs60494098 A G 43.38 LowDP BaseQRankSum=0.406;DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9995;MQ=53;MQ0=0;MQRankSum=-1.537;QD=7.23;ReadPosRankSum=-1.537;SB=-30.98;TI=NM_001170690,NM_020974;GI=SCUBE2,SCUBE2;FC=Missense_L25P,Missense_L25P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,3:6:72.04:73,0,72:53:43:0.500 chr11 9113008 . GGCA G 218.38 LowGQ;LowDP DP=6;FS=0.000;HRun=0;HaplotypeScore=22.7824;MQ=53;MQ0=0;QD=36.40;SB=-103.36;TI=NM_001170690,NM_020974;GI=SCUBE2,SCUBE2;FC=1AA_Deletion,1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,5:6:15.05:260,15,0:53:15:0.833 chr11 9812236 rs2645029 G A 1290.66 PASS DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=28.06;SB=-806.83;TI=NR_036485,NM_030962;GI=LOC283104,SBF2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:46:96.31:1324,96,0:57:96:1.000 chr11 10014085 rs79470805 T C 2281.01 PASS BaseQRankSum=2.779;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=59;MQ0=0;MQRankSum=1.519;QD=13.03;ReadPosRankSum=-0.172;SB=-1540.92;TI=NM_030962;GI=SBF2;FC=Synonymous_A391A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,91:175:99:2311,0,1896:59:99:0.520 chr11 10521764 rs3741041 T C 796.94 PASS BaseQRankSum=0.094;DP=70;Dels=0.00;FS=3.392;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=3.188;QD=11.38;ReadPosRankSum=-0.129;SB=-503.32;TI=NM_001172431,NM_000480,NM_001025389,NM_001025390,NM_001172430;GI=AMPD3,AMPD3,AMPD3,AMPD3,AMPD3;FC=Synonymous_Y404Y,Synonymous_Y572Y,Synonymous_Y563Y,Synonymous_Y570Y,Synonymous_Y563Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,33:70:99:827,0,869:52:99:0.471 chr11 11292700 rs10831567 G C 1326.71 PASS DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=28.84;SB=-615.86;TI=NM_198516;GI=GALNTL4;FC=Synonymous_L605L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:99:1360,99,0:56:99:1.000 chr11 11348669 rs17435705 G A 1969.30 PASS BaseQRankSum=0.383;DP=172;Dels=0.00;FS=1.920;HRun=1;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=1.687;QD=11.45;ReadPosRankSum=2.384;SB=-1405.58;TI=NM_198516;GI=GALNTL4;FC=Synonymous_V492V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,91:172:99:1999,0,1875:52:99:0.529 chr11 11354346 rs901553 T C 1059.62 PASS BaseQRankSum=2.880;DP=115;Dels=0.00;FS=1.527;HRun=0;HaplotypeScore=2.7440;MQ=51;MQ0=0;MQRankSum=-0.561;QD=9.21;ReadPosRankSum=-2.175;SB=-733.61;TI=NM_198516;GI=GALNTL4;FC=Synonymous_A437A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,50:115:99:1090,0,1444:51:99:0.435 chr11 11373508 rs7948121;rs61740435 T C 1227.44 PASS DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45;MQ0=0;QD=25.05;SB=-217.52;TI=NM_198516,NR_002207;GI=GALNTL4,CSNK2A1P;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:96.30:1260,96,0:45:96:1.000 chr11 11373587 rs7945066 A G 2893.69 PASS DP=116;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4297;MQ=52;MQ0=0;QD=24.95;SB=-1848.33;TI=NM_198516,NR_002207;GI=GALNTL4,CSNK2A1P;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:116:99:2927,214,0:52:99:1.000 chr11 11373635 rs1056963 C T 3561.09 PASS DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8537;MQ=53;MQ0=0;QD=27.61;SB=-2256.97;TI=NM_198516,NR_002207;GI=GALNTL4,CSNK2A1P;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3561,262,0:53:99:1.000 chr11 11373808 rs1056951 T G 6535.10 PASS DP=231;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4702;MQ=56;MQ0=0;QD=28.29;SB=-3867.94;TI=NM_198516,NR_002207;GI=GALNTL4,CSNK2A1P;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,231:231:99:6535,470,0:56:99:1.000 chr11 11373925 rs4243927 A C 5731.24 PASS DP=187;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.2326;MQ=56;MQ0=0;QD=30.65;SB=-3353.74;TI=NM_198516,NR_002207;GI=GALNTL4,CSNK2A1P;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,187:187:99:5731,424,0:56:99:1.000 chr11 11373960 rs2071461 C T 2158.55 PASS BaseQRankSum=-0.571;DP=181;Dels=0.00;FS=6.364;HRun=0;HaplotypeScore=6.3539;MQ=56;MQ0=0;MQRankSum=0.657;QD=11.93;ReadPosRankSum=1.278;SB=-1143.17;TI=NM_198516,NR_002207;GI=GALNTL4,CSNK2A1P;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,82:181:99:2189,0,2519:56:99:0.453 chr11 11374016 rs2896586 T A 6192.06 PASS DP=201;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.1237;MQ=55;MQ0=0;QD=30.81;SB=-3619.38;TI=NM_198516,NR_002207;GI=GALNTL4,CSNK2A1P;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,200:201:99:6192,454,0:55:99:1.000 chr11 11374283 rs2896585;rs41359350 T G 5098.81 PASS BaseQRankSum=1.710;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2418;MQ=58;MQ0=0;MQRankSum=1.710;QD=32.48;ReadPosRankSum=-1.114;SB=-2705.68;TI=NM_198516,NR_002207;GI=GALNTL4,CSNK2A1P;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,156:157:99:5099,376,0:58:99:0.994 chr11 11986061 rs3206824 T C 4067.30 PASS DP=144;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.5215;MQ=52;MQ0=0;QD=28.25;SB=-2139.87;TI=NM_001018057,NM_015881,NM_013253;GI=DKK3,DKK3,DKK3;FC=Missense_R335G,Missense_R335G,Missense_R335G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,144:144:99:4067,295,0:52:99:1.000 chr11 12903443 rs2304733 C T 3478.80 PASS BaseQRankSum=0.962;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5447;MQ=51;MQ0=0;MQRankSum=-1.629;QD=25.77;ReadPosRankSum=0.167;SB=-2555.79;TI=NM_021961;GI=TEAD1;FC=Unknown_171;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,134:135:99:3479,213,0:51:99:0.993 chr11 14991539 rs5239 T C 4173.02 PASS DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7878;MQ=55;MQ0=0;QD=28.58;SB=-2491.28;TI=NM_001033953,NM_001033952,NM_001741;GI=CALCA,CALCA,CALCA;FC=Missense_N57D,Missense_N57D,Missense_N57D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:4173,301,0:55:99:1.000 chr11 15994395 . C T 2289.95 PASS BaseQRankSum=0.725;DP=165;Dels=0.00;FS=1.288;HRun=1;HaplotypeScore=8.9815;MQ=57;MQ0=0;MQRankSum=1.227;QD=13.88;ReadPosRankSum=0.409;SB=-948.78;TI=NM_001145819,NM_017508,NM_001145811,NM_033326;GI=SOX6,SOX6,SOX6,SOX6;FC=Missense_S829N,Missense_S792N,Missense_S789N,Missense_S796N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,83:165:99:2320,0,2182:57:99:0.503 chr11 16007743 . T C 197.16 PASS BaseQRankSum=-0.239;DP=27;Dels=0.00;FS=7.209;HRun=0;HaplotypeScore=2.6548;MQ=59;MQ0=0;MQRankSum=1.460;QD=7.30;ReadPosRankSum=0.717;SB=-13.57;TI=NM_001145819,NM_017508,NM_001145811,NM_033326;GI=SOX6,SOX6,SOX6,SOX6;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,8:27:99:227,0,422:59:99:0.296 chr11 16133413 rs4617548 A G 813.90 PASS BaseQRankSum=0.236;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7481;MQ=56;MQ0=0;MQRankSum=0.552;QD=9.14;ReadPosRankSum=0.071;SB=-478.07;TI=NM_001145819,NM_017508,NM_001145811,NM_033326;GI=SOX6,SOX6,SOX6,SOX6;FC=Synonymous_T291T,Synonymous_T281T,Synonymous_T278T,Synonymous_T278T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,38:89:99:844,0,1287:56:99:0.427 chr11 17434284 rs1805036 G A 1921.80 PASS BaseQRankSum=-0.162;DP=132;Dels=0.00;FS=0.688;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=-0.969;QD=14.56;ReadPosRankSum=1.457;SB=-1106.06;TI=NM_000352;GI=ABCC8;FC=Synonymous_L829L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,82:132:99:1952,0,1306:54:99:0.621 chr11 17436865 rs1801261 G A 805.24 PASS BaseQRankSum=-2.479;DP=68;Dels=0.00;FS=6.440;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=1.644;QD=11.84;ReadPosRankSum=-1.227;SB=-577.54;TI=NM_000352;GI=ABCC8;FC=Synonymous_T759T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,35:68:99:835,0,821:54:99:0.515 chr11 17452492 rs1799857 G A 656.58 PASS BaseQRankSum=0.539;DP=58;Dels=0.00;FS=5.844;HRun=0;HaplotypeScore=2.8805;MQ=58;MQ0=0;MQRankSum=-0.790;QD=11.32;ReadPosRankSum=0.555;SB=-386.73;TI=NM_000352;GI=ABCC8;FC=Synonymous_H562H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,26:58:99:687,0,924:58:99:0.448 chr11 17519742 rs1064074 C G 1171.34 PASS DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=29.28;SB=-674.42;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Missense_E819D,Missense_E519D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:40:87.29:1204,87,0:56:87:1.000 chr11 17526254 rs11462418 G GA 136.83 R8 BaseQRankSum=0.558;DP=65;FS=3.602;HRun=12;HaplotypeScore=132.0117;MQ=52;MQ0=0;MQRankSum=1.689;QD=2.11;ReadPosRankSum=1.138;SB=-43.78;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,14:65:99:176,0,1007:52:99:0.246 chr11 17542439 rs2240487 T C 1494.17 PASS DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=27.67;SB=-907.84;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Synonymous_P396P,Synonymous_P396P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1527,108,0:55:99:1.000 chr11 18047255 rs1799913 G T 588.09 PASS BaseQRankSum=-0.619;DP=60;Dels=0.00;FS=1.008;HRun=0;HaplotypeScore=0.9973;MQ=54;MQ0=0;MQRankSum=2.126;QD=9.80;ReadPosRankSum=-1.738;SB=-319.24;TI=NM_004179;GI=TPH1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,26:60:99:618,0,853:54:99:0.433 chr11 18267027 rs2468844 C T 3322.27 PASS DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5630;MQ=56;MQ0=0;QD=29.66;SB=-1730.50;TI=NM_001199744,NM_001127380,NM_030754;GI=SAA2-SAA4,SAA2,SAA2;FC=Silent,Silent,Missense_R89H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:3322,244,0:56:99:1.000 chr11 18267471 rs1136766;rs71469385 A G 2813.42 PASS BaseQRankSum=0.431;DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=26.1883;MQ=42;MQ0=8;MQRankSum=3.067;QD=15.63;ReadPosRankSum=-3.017;SB=-1259.74;TI=NM_001199744,NM_001127380,NM_030754;GI=SAA2-SAA4,SAA2,SAA2;FC=Synonymous_A72A,Synonymous_A72A,Synonymous_A72A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,121:180:99:2843,0,875:42:99:0.676 chr11 18290737 rs11024597 T G 801.63 PASS BaseQRankSum=-0.777;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6743;MQ=35;MQ0=47;MQRankSum=0.729;QD=6.17;ReadPosRankSum=-1.464;SB=-470.23;TI=NM_001178006,NM_199161,NM_000331;GI=SAA1,SAA1,SAA1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,48:130:99:832,0,1250:35:99:0.372 chr11 18290859 rs1136743;rs71469387 C T 177.06 PASS BaseQRankSum=-0.361;DP=55;Dels=0.00;FS=5.519;HRun=0;HaplotypeScore=4.4508;MQ=31;MQ0=9;MQRankSum=-0.386;QD=3.22;ReadPosRankSum=-0.515;SB=-37.14;TI=NM_001178006,NM_199161,NM_000331;GI=SAA1,SAA1,SAA1;FC=Missense_A70V,Missense_A70V,Missense_A70V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,12:55:99:207,0,1009:31:99:0.218 chr11 18290874 rs1136747;rs71469388 T C 181.96 PASS BaseQRankSum=0.323;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5802;MQ=35;MQ0=2;MQRankSum=-1.234;QD=3.57;ReadPosRankSum=-1.330;SB=-80.80;TI=NM_001178006,NM_199161,NM_000331;GI=SAA1,SAA1,SAA1;FC=Missense_V75A,Missense_V75A,Missense_V75A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,11:51:99:212,0,1087:35:99:0.216 chr11 18290880 rs1671926;rs28720026 C G 1537.67 PASS DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7825;MQ=35;MQ0=1;QD=30.75;SB=-692.75;TI=NM_001178006,NM_199161,NM_000331;GI=SAA1,SAA1,SAA1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:50:99:1571,132,0:35:99:1.000 chr11 18291321 rs12218 T C 2991.18 PASS BaseQRankSum=0.100;DP=251;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1251;MQ=57;MQ0=0;MQRankSum=0.405;QD=11.92;ReadPosRankSum=-2.568;SB=-1896.27;TI=NM_001178006,NM_199161,NM_000331;GI=SAA1,SAA1,SAA1;FC=Synonymous_A96A,Synonymous_A96A,Synonymous_A96A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:133,118:251:99:3021,0,3236:57:99:0.470 chr11 18327684 rs1140047 G T 3542.99 PASS BaseQRankSum=2.153;DP=316;Dels=0.00;FS=4.385;HRun=1;HaplotypeScore=13.5901;MQ=52;MQ0=0;MQRankSum=1.205;QD=11.21;ReadPosRankSum=0.363;SB=-2512.76;TI=NM_181508,NM_007216,NM_181507;GI=HPS5,HPS5,HPS5;FC=Synonymous_L160L,Synonymous_L160L,Synonymous_L274L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:162,154:316:99:3543,0,3889:52:99:0.487 chr11 18424451 rs5030621 C T 2568.70 PASS DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=6;QD=27.92;SB=-1311.41;TI=NM_001165416,NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165414;GI=LDHA,LDHA,LDHA,LDHA,LDHA,LDHA;FC=Synonymous_S161S,Synonymous_S161S,Synonymous_S161S,Silent,Synonymous_S103S,Synonymous_S190S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2602,193,0:50:99:1.000 chr11 18424487 rs4820 A G 2176.79 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=6;QD=29.82;SB=-764.67;TI=NM_001165416,NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165414;GI=LDHA,LDHA,LDHA,LDHA,LDHA,LDHA;FC=Synonymous_L173L,Synonymous_L173L,Synonymous_L173L,Silent,Synonymous_L115L,Synonymous_L202L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2210,166,0:50:99:1.000 chr11 18429450 rs3758681 A G 1577.30 PASS DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;QD=31.55;SB=-747.41;TI=NM_001165416,NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165414;GI=LDHA,LDHA,LDHA,LDHA,LDHA,LDHA;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:50:99:1610,120,0:58:99:1.000 chr11 18429467 rs3758682 T C 1647.21 PASS DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=32.30;SB=-752.22;TI=NM_001165416,NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165414;GI=LDHA,LDHA,LDHA,LDHA,LDHA,LDHA;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:99:1680,126,0:58:99:1.000 chr11 18429548 rs3758683 C G 1218.91 PASS DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=34.83;SB=-560.84;TI=NM_001165416,NM_005566,NM_001165415,NR_028500,NM_001135239,NM_001165414;GI=LDHA,LDHA,LDHA,LDHA,LDHA,LDHA;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:35:93.30:1252,93,0:58:93:1.000 chr11 19854088 rs6483617 G A 1231.90 PASS BaseQRankSum=0.903;DP=89;Dels=0.00;FS=0.803;HRun=1;HaplotypeScore=3.7878;MQ=53;MQ0=0;MQRankSum=0.778;QD=13.84;ReadPosRankSum=-1.011;SB=-849.38;TI=NM_001111018,NM_145117,NM_182964;GI=NAV2,NAV2,NAV2;FC=Missense_R45K,Missense_R109K,Missense_R109K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,52:89:99:1262,0,808:53:99:0.584 chr11 19901632 rs11025310 G A 2437.57 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6214;MQ=54;MQ0=0;QD=29.37;SB=-1095.56;TI=NM_001111018,NM_145117,NM_182964;GI=NAV2,NAV2,NAV2;FC=Synonymous_A179A,Synonymous_A243A,Synonymous_A243A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2471,184,0:54:99:1.000 chr11 19955500 rs1372989 A G 3039.93 PASS DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1815;MQ=57;MQ0=0;QD=32.00;SB=-1488.06;TI=NM_001111018,NM_145117,NM_182964;GI=NAV2,NAV2,NAV2;FC=Synonymous_K506K,Synonymous_K570K,Synonymous_K570K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:3073,232,0:57:99:1.000 chr11 19970507 rs12284679 C T 1052.06 PASS BaseQRankSum=0.735;DP=78;Dels=0.00;FS=3.164;HRun=0;HaplotypeScore=1.8932;MQ=58;MQ0=0;MQRankSum=0.395;QD=13.49;ReadPosRankSum=0.935;SB=-383.99;TI=NM_001111018,NM_145117,NM_182964;GI=NAV2,NAV2,NAV2;FC=Synonymous_D778D,Synonymous_D842D,Synonymous_D842D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,38:78:99:1082,0,1101:58:99:0.487 chr11 19970558 rs2585773 T C 3156.44 PASS DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5879;MQ=55;MQ0=0;QD=31.88;SB=-1874.47;TI=NM_001111018,NM_145117,NM_182964;GI=NAV2,NAV2,NAV2;FC=Synonymous_D795D,Synonymous_D859D,Synonymous_D859D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:99:99:3189,235,0:55:99:1.000 chr11 19970579 rs2707084 C T 3210.81 PASS DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4156;MQ=53;MQ0=0;QD=29.73;SB=-1993.50;TI=NM_001111018,NM_145117,NM_182964;GI=NAV2,NAV2,NAV2;FC=Synonymous_D802D,Synonymous_D866D,Synonymous_D866D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:108:99:3244,235,0:53:99:1.000 chr11 20065779 rs3802800 C G 1560.49 PASS DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=57;MQ0=0;QD=32.51;SB=-539.07;TI=NM_001111018,NM_145117,NM_182964,NM_001111019;GI=NAV2,NAV2,NAV2,NAV2;FC=Missense_P990A,Missense_P1054A,Missense_P1054A,Missense_P140A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:99:1593,120,0:57:99:1.000 chr11 20067064 rs7125647 C T 1869.88 PASS BaseQRankSum=-0.333;DP=141;Dels=0.00;FS=1.353;HRun=0;HaplotypeScore=13.7748;MQ=58;MQ0=0;MQRankSum=1.341;QD=13.26;ReadPosRankSum=0.765;SB=-1274.88;TI=NM_001111018,NM_145117,NM_182964,NM_001111019;GI=NAV2,NAV2,NAV2,NAV2;FC=Synonymous_D1186D,Synonymous_D1250D,Synonymous_D1250D,Synonymous_D336D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,77:141:99:1900,0,1413:58:99:0.554 chr11 20099112 rs4757028 A T 2580.28 PASS DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;QD=26.60;SB=-1747.81;TI=NM_001111018,NM_145117,NM_182964,NM_001111019;GI=NAV2,NAV2,NAV2,NAV2;FC=Synonymous_A1602A,Synonymous_A1666A,Synonymous_A1666A,Synonymous_A730A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:2613,187,0:50:99:1.000 chr11 20099541 rs6483642 C T 1807.74 PASS DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.17;SB=-717.53;TI=NM_001111018,NM_145117,NM_182964,NM_001111019;GI=NAV2,NAV2,NAV2,NAV2;FC=Synonymous_D1626D,Synonymous_D1690D,Synonymous_D1690D,Synonymous_D754D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1841,135,0:56:99:1.000 chr11 20101704 rs1867114 C T 1734.74 PASS DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=26.69;SB=-1144.86;TI=NM_001111018,NM_145117,NM_182964,NM_001111019;GI=NAV2,NAV2,NAV2,NAV2;FC=Synonymous_S1694S,Synonymous_S1758S,Synonymous_S1758S,Synonymous_S822S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:1768,126,0:51:99:1.000 chr11 20101744 rs1867115 C A 1026.80 PASS DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=26.33;SB=-703.65;TI=NM_001111018,NM_145117,NM_182964,NM_001111019;GI=NAV2,NAV2,NAV2,NAV2;FC=Synonymous_R1708R,Synonymous_R1772R,Synonymous_R1772R,Synonymous_R836R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,39:39:75.25:1060,75,0:56:75:1.000 chr11 20104669 rs2028570 G A 4455.73 PASS DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4023;MQ=56;MQ0=0;QD=28.75;SB=-3026.80;TI=NM_001111018,NM_145117,NM_182964,NM_001111019;GI=NAV2,NAV2,NAV2,NAV2;FC=Synonymous_P1750P,Synonymous_P1814P,Synonymous_P1817P,Synonymous_P878P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4456,322,0:56:99:1.000 chr11 20112492 rs1837971 G A 2560.88 PASS DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=24.62;SB=-1888.99;TI=NM_001111018,NM_145117,NM_182964,NM_001111019;GI=NAV2,NAV2,NAV2,NAV2;FC=Synonymous_T1796T,Synonymous_T1860T,Synonymous_T1863T,Synonymous_T924T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:104:99:2594,181,0:55:99:1.000 chr11 20124914 rs2243411 A C 8408.67 PASS DP=304;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.9541;MQ=52;MQ0=0;QD=27.66;SB=-5557.43;TI=NM_001111018,NM_145117,NM_182964,NM_001111019;GI=NAV2,NAV2,NAV2,NAV2;FC=Synonymous_G2113G,Synonymous_G2177G,Synonymous_G2180G,Synonymous_G1241G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,303:304:99:8409,608,0:52:99:1.000 chr11 20429454 rs10741836 T C 915.78 PASS DP=36;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=25.44;SB=-659.62;TI=NM_005788,NM_001145167,NM_001145166;GI=PRMT3,PRMT3,PRMT3;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:36:69.22:949,69,0:57:69:1.000 chr11 20529886 rs6483700 G A 5159.04 PASS DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6655;MQ=53;MQ0=0;QD=27.30;SB=-3003.33;TI=NM_005788,NM_001145167,NM_001145166;GI=PRMT3,PRMT3,PRMT3;FC=Missense_S508N,Missense_S431N,Missense_S446N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,189:189:99:5159,373,0:53:99:1.000 chr11 20623007 rs7109418 C T 5070.73 PASS BaseQRankSum=1.998;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1575;MQ=56;MQ0=0;MQRankSum=-1.321;QD=27.41;ReadPosRankSum=0.378;SB=-3092.57;TI=NM_004211;GI=SLC6A5;FC=Synonymous_S112S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,183:185:99:5071,332,0:56:99:0.989 chr11 20623023 rs2241941 C T 4967.27 PASS DP=178;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.7271;MQ=56;MQ0=0;QD=27.91;SB=-3379.57;TI=NM_004211;GI=SLC6A5;FC=Synonymous_L118L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,176:178:99:4967,358,0:56:99:1.000 chr11 20623042 rs1443548 T C 5272.94 PASS DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1341;MQ=54;MQ0=0;QD=27.75;SB=-3577.15;TI=NM_004211;GI=SLC6A5;FC=Missense_F124S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,190:190:99:5273,382,0:54:99:1.000 chr11 20623156 rs1443549 C G 1908.42 PASS DP=60;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=31.81;SB=-467.87;TI=NM_004211;GI=SLC6A5;FC=Missense_A162G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:1941,144,0:56:99:1.000 chr11 20639400 rs7925597 A G 2177.88 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.83;SB=-1340.57;TI=NM_004211;GI=SLC6A5;FC=Synonymous_S410S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2211,160,0:56:99:1.000 chr11 20673832 rs72932998 C A 1126.02 PASS DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=27.46;SB=-479.35;TI=NM_004211;GI=SLC6A5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:84.27:1159,84,0:57:84:1.000 chr11 20676417 rs1401793 C T 2409.05 PASS DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=26.77;SB=-1500.52;TI=NM_004211;GI=SLC6A5;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2442,175,0:50:99:1.000 chr11 20805335 rs2280363 C T 6103.86 PASS DP=220;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=27.74;SB=-4251.45;TI=NM_201551,NM_006157;GI=NELL1,NELL1;FC=Synonymous_S98S,Synonymous_S98S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,220:220:99:6104,433,0:53:99:1.000 chr11 21392487 rs4151056 C T 1656.27 PASS BaseQRankSum=0.884;DP=125;Dels=0.00;FS=1.438;HRun=0;HaplotypeScore=2.6548;MQ=55;MQ0=0;MQRankSum=0.914;QD=13.25;ReadPosRankSum=-0.614;SB=-1174.45;TI=NM_201551,NM_006157;GI=NELL1,NELL1;FC=Synonymous_C546C,Synonymous_C546C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,73:125:99:1686,0,1254:55:99:0.584 chr11 21581805 rs8176789 C T 6375.60 PASS DP=224;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.6402;MQ=56;MQ0=0;QD=28.46;SB=-3691.21;TI=NM_201551,NM_006157;GI=NELL1,NELL1;FC=Synonymous_G572G,Synonymous_G619G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,222:224:99:6376,463,0:56:99:1.000 chr11 22242729 rs4312063 T C 770.35 PASS BaseQRankSum=0.625;DP=80;Dels=0.00;FS=4.417;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=1.661;QD=9.63;ReadPosRankSum=0.323;SB=-380.89;TI=NM_213599,NM_001142649;GI=ANO5,ANO5;FC=Synonymous_D89D,Synonymous_D88D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,33:80:99:800,0,1245:53:99:0.413 chr11 22271870 rs7481951 A T 1427.67 PASS BaseQRankSum=1.472;DP=116;Dels=0.00;FS=4.551;HRun=2;HaplotypeScore=4.6153;MQ=56;MQ0=0;MQRankSum=1.610;QD=12.31;ReadPosRankSum=0.947;SB=-980.61;TI=NM_213599,NM_001142649;GI=ANO5,ANO5;FC=Missense_L322F,Missense_L321F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,58:116:99:1458,0,1385:56:99:0.500 chr11 27679662 rs2353512 T C 477.94 LowDP DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=36.76;SB=-81.30;TI=NR_033314,NR_002832,NR_033312,NR_033315,NR_033313,NM_170735,NM_001143816,NM_170734,NM_001709,NM_001143814,NM_001143813,NM_001143812,NM_001143809,NM_001143808,NM_001143810,NM_001143811,NM_170733,NM_001143807,NM_001143806,NM_001143805,NM_170732,NM_170731;GI=BDNF-AS1,BDNF-AS1,BDNF-AS1,BDNF-AS1,BDNF-AS1,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF;FC=Silent,Silent,Silent,Silent,Silent,Synonymous_A150A,Synonymous_A150A,Synonymous_A165A,Synonymous_A150A,Synonymous_A150A,Synonymous_A150A,Synonymous_A150A,Synonymous_A179A,Synonymous_A150A,Synonymous_A232A,Synonymous_A150A,Synonymous_A150A,Synonymous_A150A,Synonymous_A150A,Synonymous_A150A,Synonymous_A150A,Synonymous_A158A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,13:13:39.12:511,39,0:60:39:1.000 chr11 27720918 . AACTC A 4134.90 PASS BaseQRankSum=-0.032;DP=144;FS=2.956;HRun=0;HaplotypeScore=79.1768;MQ=54;MQ0=0;MQRankSum=1.582;QD=28.71;ReadPosRankSum=0.000;SB=-1875.83;TI=NM_170734,NM_001709,NM_001143814,NM_001143813,NM_001143812,NM_001143809,NM_001143808,NM_001143810,NM_001143811,NM_170733,NM_001143807,NM_001143806,NM_001143805,NM_170732,NM_170731;GI=BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF,BDNF;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,72:144:99:4135,0,4290:54:99:0.500 chr11 30255185 rs6169 C T 1901.83 PASS BaseQRankSum=-2.145;DP=215;Dels=0.00;FS=1.721;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=2.272;QD=8.85;ReadPosRankSum=-0.626;SB=-1116.87;TI=NM_001018080,NM_000510;GI=FSHB,FSHB;FC=Synonymous_Y76Y,Synonymous_Y76Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:133,82:215:99:1932,0,2953:52:99:0.381 chr11 31653956 rs4922872 C A 2701.26 PASS DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=29.36;SB=-1297.40;TI=NM_019040;GI=ELP4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:92:99:2734,199,0:54:99:1.000 chr11 32417945 rs16754 T C 595.60 PASS BaseQRankSum=-0.521;DP=58;Dels=0.00;FS=5.552;HRun=1;HaplotypeScore=4.6270;MQ=58;MQ0=0;MQRankSum=1.722;QD=10.27;ReadPosRankSum=-0.569;SB=-248.10;TI=NM_001198551,NM_001198552,NM_000378,NM_024426,NM_024424;GI=WT1,WT1,WT1,WT1,WT1;FC=Synonymous_R157R,Synonymous_R140R,Synonymous_R352R,Synonymous_R369R,Synonymous_R369R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,26:58:99:626,0,737:58:99:0.456 chr11 32456562 rs1799925 G A 158.40 SB;LowDP BaseQRankSum=2.061;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58;MQ0=0;MQRankSum=-0.395;QD=8.34;ReadPosRankSum=1.009;SB=-0.01;TI=NM_000378,NM_024426,NM_024424;GI=WT1,WT1,WT1;FC=Synonymous_P110P,Synonymous_P110P,Synonymous_P110P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,6:19:99:188,0,405:58:99:0.316 chr11 32459452 rs10835908 C G 868.00 PASS BaseQRankSum=2.213;DP=87;Dels=0.00;FS=0.882;HRun=1;HaplotypeScore=7.6537;MQ=56;MQ0=0;MQRankSum=0.952;QD=9.98;ReadPosRankSum=-0.622;SB=-404.28;TI=NR_023920;GI=WT1-AS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,38:87:99:898,0,1353:56:99:0.442 chr11 32459923 rs11031783 C A 1925.25 PASS BaseQRankSum=-0.917;DP=140;Dels=0.00;FS=0.636;HRun=0;HaplotypeScore=8.0428;MQ=57;MQ0=0;MQRankSum=0.525;QD=13.75;ReadPosRankSum=-0.363;SB=-1054.14;TI=NR_023920;GI=WT1-AS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,71:140:99:1955,0,1888:57:99:0.507 chr11 32460227 rs7120686 C T 4794.08 PASS BaseQRankSum=1.834;DP=297;Dels=0.00;FS=0.431;HRun=0;HaplotypeScore=12.7204;MQ=54;MQ0=0;MQRankSum=1.404;QD=16.14;ReadPosRankSum=0.201;SB=-2796.23;TI=NR_023920;GI=WT1-AS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,175:297:99:4794,0,3086:54:99:0.589 chr11 32460575 rs11031784 T C 1689.56 PASS BaseQRankSum=0.651;DP=153;Dels=0.00;FS=1.314;HRun=3;HaplotypeScore=1.7608;MQ=54;MQ0=0;MQRankSum=3.203;QD=11.04;ReadPosRankSum=1.828;SB=-776.88;TI=NR_023920;GI=WT1-AS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,69:153:99:1720,0,2308:54:99:0.451 chr11 32460676 rs34163689 C T 1040.46 PASS BaseQRankSum=0.918;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.5110;MQ=57;MQ0=0;MQRankSum=1.538;QD=11.19;ReadPosRankSum=1.007;SB=-420.92;TI=NR_023920;GI=WT1-AS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,35:93:99:1070,0,1603:57:99:0.385 chr11 32461025 . A AAG 4313.10 PASS BaseQRankSum=9.917;DP=224;FS=0.000;HRun=0;HaplotypeScore=882.0777;MQ=57;MQ0=0;MQRankSum=2.470;QD=19.25;ReadPosRankSum=0.031;SB=-2144.57;TI=NR_023920;GI=WT1-AS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,101:224:99:4313,0,5004:57:99:0.463 chr11 32461059 rs76286407 C A 2691.61 PASS BaseQRankSum=0.333;DP=253;Dels=0.00;FS=0.470;HRun=1;HaplotypeScore=17.0801;MQ=55;MQ0=0;MQRankSum=0.911;QD=10.64;ReadPosRankSum=-0.943;SB=-1609.44;TI=NR_023920;GI=WT1-AS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,117:253:99:2722,0,3339:55:99:0.462 chr11 32461090 rs7946086 A G 2460.25 PASS BaseQRankSum=-0.450;DP=238;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=21.4842;MQ=55;MQ0=0;MQRankSum=2.490;QD=10.34;ReadPosRankSum=-0.935;SB=-1305.40;TI=NR_023920;GI=WT1-AS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,107:238:99:2490,0,3138:55:99:0.453 chr11 32461611 . G T 10.62 LowDP BaseQRankSum=-0.762;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.9383;MQ=34;MQ0=0;MQRankSum=-0.762;QD=1.06;ReadPosRankSum=1.666;SB=-13.61;TI=NR_023920;GI=WT1-AS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,2:10:40.22:40,0,130:34:11:0.222 chr11 34938265 rs2956109 C T 490.30 PASS BaseQRankSum=0.617;DP=72;Dels=0.00;FS=3.480;HRun=0;HaplotypeScore=4.9989;MQ=57;MQ0=0;MQRankSum=0.214;QD=6.81;ReadPosRankSum=-0.801;SB=-253.16;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Silent,Synonymous_P21P,Synonymous_P21P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,22:72:99:520,0,1323:57:99:0.306 chr11 34969112 rs11539202 A G 1643.65 PASS BaseQRankSum=0.588;DP=96;Dels=0.00;FS=4.549;HRun=0;HaplotypeScore=2.7880;MQ=56;MQ0=0;MQRankSum=0.768;QD=17.12;ReadPosRankSum=1.922;SB=-648.90;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Missense_T86A,Missense_T101A,Missense_T101A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,58:96:99:1674,0,1017:56:99:0.604 chr11 34991727 rs497582 T C 2043.41 PASS BaseQRankSum=0.271;DP=177;Dels=0.00;FS=4.489;HRun=0;HaplotypeScore=8.1147;MQ=52;MQ0=0;MQRankSum=1.429;QD=11.54;ReadPosRankSum=-0.336;SB=-1239.40;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Synonymous_V271V,Synonymous_V286V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,84:177:99:2073,0,2354:52:99:0.477 chr11 35201842 rs1071695 C T 1070.96 PASS BaseQRankSum=1.661;DP=98;Dels=0.00;FS=0.757;HRun=0;HaplotypeScore=7.4314;MQ=52;MQ0=0;MQRankSum=1.640;QD=10.93;ReadPosRankSum=1.526;SB=-741.75;TI=NM_001001390,NM_000610,NM_001001389,NM_001001392,NM_001001391;GI=CD44,CD44,CD44,CD44,CD44;FC=Synonymous_H85H,Synonymous_H85H,Synonymous_H85H,Silent,Synonymous_H85H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,45:98:99:1101,0,1122:52:99:0.459 chr11 35226155 rs9666607 A G 748.42 PASS BaseQRankSum=0.657;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7549;MQ=53;MQ0=0;MQRankSum=1.085;QD=9.36;ReadPosRankSum=1.183;SB=-546.15;TI=NM_001001390,NM_000610,NM_001001389,NM_001001392,NM_001001391;GI=CD44,CD44,CD44,CD44,CD44;FC=Silent,Missense_K417R,Missense_K374R,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,34:80:99:778,0,1044:53:99:0.425 chr11 35229673 rs1467558 T C 3619.61 PASS DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=52;MQ0=0;QD=28.96;SB=-2057.15;TI=NM_001001390,NM_000610,NM_001001389,NM_001001392,NM_001001391;GI=CD44,CD44,CD44,CD44,CD44;FC=Missense_I230T,Missense_I479T,Missense_I436T,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,124:125:99:3620,262,0:52:99:1.000 chr11 35308369 rs1042113 T C 1817.34 PASS BaseQRankSum=0.761;DP=183;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5436;MQ=53;MQ0=0;MQRankSum=1.875;QD=9.93;ReadPosRankSum=1.225;SB=-990.50;TI=NM_004171,NM_001195728;GI=SLC1A2,SLC1A2;FC=Synonymous_V407V,Synonymous_V398V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,80:183:99:1847,0,2533:53:99:0.437 chr11 35323200 rs2273689 A G 878.02 PASS BaseQRankSum=0.541;DP=84;Dels=0.00;FS=1.852;HRun=2;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=-1.633;QD=10.45;ReadPosRankSum=0.094;SB=-597.72;TI=NM_004171,NM_001195728;GI=SLC1A2,SLC1A2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,42:84:99:908,0,1084:55:99:0.500 chr11 35327748 rs752949 C T 2322.20 PASS BaseQRankSum=1.243;DP=175;Dels=0.00;FS=0.569;HRun=0;HaplotypeScore=8.0425;MQ=54;MQ0=0;MQRankSum=3.353;QD=13.27;ReadPosRankSum=1.718;SB=-1484.01;TI=NM_004171,NM_001195728;GI=SLC1A2,SLC1A2;FC=Synonymous_P201P,Synonymous_P192P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,98:175:99:2352,0,1878:54:99:0.560 chr11 36518824 rs5030456 T TA 1058.91 PASS BaseQRankSum=-1.348;DP=40;FS=0.000;HRun=7;HaplotypeScore=36.8531;MQ=60;MQ0=0;MQRankSum=-1.155;QD=26.47;ReadPosRankSum=-1.155;SB=-97.28;TI=NM_145803,NM_004620;GI=TRAF6,TRAF6;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:6,34:40:74.58:1101,75,0:60:75:0.850 chr11 44089352 rs33952257 G A 2040.82 PASS BaseQRankSum=0.592;DP=179;Dels=0.00;FS=3.476;HRun=1;HaplotypeScore=10.4855;MQ=54;MQ0=0;MQRankSum=0.600;QD=11.40;ReadPosRankSum=-0.221;SB=-1351.38;TI=NM_001127219,NM_032592;GI=ACCS,ACCS;FC=Missense_D59N,Missense_D59N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,83:179:99:2071,0,2442:54:99:0.464 chr11 44096238 rs178521 G A 1109.77 PASS DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=47;MQ0=0;QD=27.07;SB=-572.24;TI=NM_001127219,NM_032592;GI=ACCS,ACCS;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:84.27:1143,84,0:47:84:1.000 chr11 44101118 rs7950395 C T 2027.94 PASS BaseQRankSum=1.159;DP=193;Dels=0.00;FS=1.128;HRun=1;HaplotypeScore=10.6629;MQ=49;MQ0=0;MQRankSum=2.213;QD=10.51;ReadPosRankSum=1.566;SB=-1503.25;TI=NM_001127219,NM_032592;GI=ACCS,ACCS;FC=Synonymous_L291L,Synonymous_L291L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,97:193:99:2058,0,2082:49:99:0.503 chr11 44104981 rs3107275 C T 917.39 PASS BaseQRankSum=-0.885;DP=68;Dels=0.00;FS=4.883;HRun=0;HaplotypeScore=6.3810;MQ=57;MQ0=0;MQRankSum=-1.186;QD=13.49;ReadPosRankSum=-0.370;SB=-433.70;TI=NM_001127219,NM_032592;GI=ACCS,ACCS;FC=Missense_P421L,Missense_P421L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,35:68:99:947,0,961:57:99:0.522 chr11 44286566 rs3802805 G A 2126.76 PASS BaseQRankSum=-1.769;DP=171;Dels=0.00;FS=0.581;HRun=0;HaplotypeScore=7.4056;MQ=54;MQ0=0;MQRankSum=0.664;QD=12.44;ReadPosRankSum=-2.261;SB=-1439.09;TI=NM_021926;GI=ALX4;FC=Synonymous_H358H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,91:171:99:2157,0,1917:54:99:0.532 chr11 44297054 rs10769028 T C 2488.22 PASS DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8835;MQ=53;MQ0=0;QD=27.05;SB=-1730.76;TI=NM_021926;GI=ALX4;FC=Synonymous_S207S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2521,178,0:53:99:1.000 chr11 44331309 rs12421995 G A 485.28 PASS BaseQRankSum=-0.044;DP=38;Dels=0.00;FS=7.162;HRun=0;HaplotypeScore=5.2225;MQ=57;MQ0=0;MQRankSum=1.434;QD=12.77;ReadPosRankSum=-0.783;SB=-291.05;TI=NM_021926;GI=ALX4;FC=Missense_P102S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,22:38:99:515,0,411:57:99:0.579 chr11 44331509 rs3824915 C G 1154.40 PASS BaseQRankSum=0.861;DP=103;Dels=0.00;FS=1.587;HRun=0;HaplotypeScore=7.3088;MQ=57;MQ0=0;MQRankSum=-0.023;QD=11.21;ReadPosRankSum=-0.241;SB=-731.22;TI=NM_021926;GI=ALX4;FC=Missense_R35T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,50:103:99:1184,0,1198:57:99:0.485 chr11 45935384 rs1132349 A G 3834.51 PASS DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=53;MQ0=0;QD=29.50;SB=-1697.30;TI=NM_057174,NM_004813;GI=PEX16,PEX16;FC=Synonymous_Y291Y,Synonymous_Y291Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:3835,277,0:53:99:1.000 chr11 45937267 rs10742772 C T 4585.07 PASS DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1211;MQ=54;MQ0=0;QD=27.62;SB=-3074.22;TI=NM_057174,NM_004813;GI=PEX16,PEX16;FC=Missense_V116I,Missense_V116I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,165:166:99:4585,328,0:54:99:1.000 chr11 45949534 rs939105 C T 5894.77 PASS DP=211;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.9565;MQ=56;MQ0=0;QD=27.94;SB=-3692.51;TI=NM_152312;GI=GYLTL1B;FC=Synonymous_F556F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,211:211:99:5895,424,0:56:99:1.000 chr11 46744925 rs2070852 G C 4279.04 PASS DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=57;MQ0=0;QD=31.01;SB=-2181.39;TI=NM_000506;GI=F2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:138:99:4279,313,0:57:99:1.000 chr11 46890165 rs3816614 C T 2898.74 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.35;SB=-1561.38;TI=NM_002334;GI=LRP4;FC=Missense_R1646Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2932,208,0:52:99:1.000 chr11 46893108 rs2306029 T C 2325.22 PASS DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.36;SB=-1292.11;TI=NM_002334;GI=LRP4;FC=Missense_S1554G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2358,169,0:54:99:1.000 chr11 46898771 rs6485702 T C 2933.95 PASS DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=28.76;SB=-1753.06;TI=NM_002334;GI=LRP4;FC=Missense_I1086V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:102:99:2967,217,0:55:99:1.000 chr11 46914583 rs10838631 T C 4379.41 PASS BaseQRankSum=1.684;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.5405;MQ=56;MQ0=0;MQRankSum=1.637;QD=30.20;ReadPosRankSum=0.753;SB=-2523.13;TI=NM_002334;GI=LRP4;FC=Synonymous_K546K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,144:145:99:4379,325,0:56:99:0.993 chr11 46914598 rs10769215 A G 4461.64 PASS DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6272;MQ=57;MQ0=0;QD=29.55;SB=-2923.86;TI=NM_002334;GI=LRP4;FC=Synonymous_D541D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,151:151:99:4462,322,0:57:99:1.000 chr11 47238522 rs326212 T C 1270.52 PASS DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7333;MQ=57;MQ0=0;QD=28.23;SB=-729.71;TI=NM_000107;GI=DDB2;FC=Synonymous_T126T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,45:45:93.31:1304,93,0:57:93:1.000 chr11 47298360 rs326214 G A 6404.51 PASS DP=223;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2312;MQ=54;MQ0=0;QD=28.72;SB=-3828.19;TI=NM_130470,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_130474,NM_001135943,NM_130475,NM_130476;GI=MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD;FC=Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E,Synonymous_E347E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,222:223:99:6405,470,0:54:99:1.000 chr11 47303275 rs326217 T C 1709.63 PASS BaseQRankSum=-0.283;DP=153;Dels=0.00;FS=2.880;HRun=0;HaplotypeScore=6.4425;MQ=52;MQ0=0;MQRankSum=1.046;QD=11.17;ReadPosRankSum=-2.294;SB=-1084.93;TI=NM_130470,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_130474,NM_001135943,NM_130475,NM_130476;GI=MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD;FC=Synonymous_N480N,Synonymous_N480N,Synonymous_N480N,Synonymous_N480N,Synonymous_N480N,Synonymous_N480N,Synonymous_N480N,Synonymous_N480N,Synonymous_N480N,Synonymous_N480N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,78:153:99:1740,0,1768:52:99:0.510 chr11 47306630 rs35233100 C T 1286.60 PASS BaseQRankSum=0.002;DP=129;Dels=0.00;FS=0.654;HRun=0;HaplotypeScore=4.4704;MQ=52;MQ0=0;MQRankSum=1.914;QD=9.97;ReadPosRankSum=1.292;SB=-866.63;TI=NM_130470,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_130474,NM_001135943,NM_130475,NM_130476;GI=MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD;FC=Nonsense_R766X,Silent,Nonsense_R766X,Nonsense_R766X,Silent,Silent,Silent,Silent,Nonsense_R766X,Nonsense_R766X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,57:129:99:1317,0,1710:52:99:0.442 chr11 47331116 rs1017594 T C 4437.15 PASS DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=53;MQ0=0;QD=29.58;SB=-2167.82;TI=NM_130470,NM_001135944,NM_130473,NM_003682,NM_130472,NM_130471,NM_130474,NM_001135943,NM_130475,NM_130476;GI=MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD,MADD;FC=Synonymous_L1312L,Synonymous_L1265L,Synonymous_L1332L,Synonymous_L1371L,Synonymous_L1269L,Synonymous_L1289L,Synonymous_L1269L,Synonymous_L1268L,Synonymous_L1371L,Synonymous_L1311L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:4437,319,0:53:99:1.000 chr11 47371484 rs11570050 AG A 2676.88 PASS DP=81;FS=0.000;HRun=4;HaplotypeScore=62.8936;MQ=59;MQ0=0;QD=33.05;SB=-907.00;TI=NM_000256;GI=MYBPC3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:12,69:81:99:2719,208,0:59:99:0.852 chr11 47431728 rs2010519 A G 1831.86 PASS DP=60;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=30.53;SB=-713.55;TI=NM_001128225,NM_152264;GI=SLC39A13,SLC39A13;FC=Missense_E28G,Missense_E28G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:1865,138,0:57:99:1.000 chr11 47434986 rs2293576 G A 818.16 PASS BaseQRankSum=0.680;DP=78;Dels=0.00;FS=1.893;HRun=0;HaplotypeScore=4.6540;MQ=53;MQ0=0;MQRankSum=1.781;QD=10.49;ReadPosRankSum=0.100;SB=-548.03;TI=NM_001128225,NM_152264;GI=SLC39A13,SLC39A13;FC=Synonymous_A191A,Synonymous_A191A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,37:78:99:848,0,1121:53:99:0.474 chr11 47435030 . G C 629.65 PASS BaseQRankSum=1.260;DP=59;Dels=0.00;FS=1.018;HRun=2;HaplotypeScore=1.8939;MQ=57;MQ0=0;MQRankSum=1.168;QD=10.67;ReadPosRankSum=1.137;SB=-351.26;TI=NM_001128225,NM_152264;GI=SLC39A13,SLC39A13;FC=Missense_G206A,Missense_G206A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,26:59:99:660,0,872:57:99:0.441 chr11 47460306 rs7126210 A G 6548.92 PASS DP=229;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.1683;MQ=53;MQ0=0;QD=28.60;SB=-3303.42;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Synonymous_P381P,Synonymous_P322P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,229:229:99:6549,482,0:53:99:1.000 chr11 47463483 rs68157323 AG A 5583.37 PASS DP=133;FS=0.000;HRun=3;HaplotypeScore=86.8214;MQ=49;MQ0=0;QD=41.98;SB=-1227.28;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,132:133:99:5583,397,0:49:99:0.992 chr11 47469439 rs7111873 A G 4313.87 PASS DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5759;MQ=56;MQ0=0;QD=28.95;SB=-2346.25;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Synonymous_Y152Y,Synonymous_Y152Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:149:99:4314,310,0:56:99:1.000 chr11 47640429 rs1064608 G C 1365.14 PASS BaseQRankSum=1.166;DP=97;Dels=0.00;FS=0.784;HRun=0;HaplotypeScore=1.8934;MQ=55;MQ0=0;MQRankSum=-0.848;QD=14.07;ReadPosRankSum=-2.010;SB=-578.14;TI=NM_014342;GI=MTCH2;FC=Missense_P290A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,50:97:99:1395,0,1125:55:99:0.515 chr11 48145247 rs2270992 T C 3640.52 PASS DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=57;MQ0=0;QD=29.12;SB=-1852.65;TI=NM_001098503,NM_002843;GI=PTPRJ,PTPRJ;FC=Synonymous_T233T,Synonymous_T233T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3641,265,0:57:99:1.000 chr11 48166267 rs4752904 G C 6846.90 PASS DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=55;MQ0=0;QD=30.16;SB=-3151.12;TI=NM_002843;GI=PTPRJ;FC=Missense_E872D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,227:227:99:6847,497,0:55:99:1.000 chr11 49208298 rs75655145 A G 1015.09 PASS BaseQRankSum=1.163;DP=108;Dels=0.00;FS=4.052;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=2;MQRankSum=2.084;QD=9.40;ReadPosRankSum=-0.058;SB=-509.95;TI=NM_001014986,NM_001193472,NM_004476,NM_001193471,NM_001193473;GI=FOLH1,FOLH1,FOLH1,FOLH1,FOLH1;FC=Synonymous_Y179Y,Synonymous_Y164Y,Synonymous_Y179Y,Synonymous_Y164Y,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,45:108:99:1045,0,1661:53:99:0.417 chr11 57004344 rs948847 G T 1303.63 PASS BaseQRankSum=0.778;DP=116;Dels=0.00;FS=3.702;HRun=2;HaplotypeScore=7.5891;MQ=57;MQ0=0;MQRankSum=2.852;QD=11.24;ReadPosRankSum=-0.767;SB=-657.68;TI=NR_027991,NM_005161;GI=APLNR,APLNR;FC=Silent,Synonymous_G45G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,52:116:99:1334,0,1711:57:99:0.452 chr11 57381989 rs4926 G A 2443.22 PASS BaseQRankSum=-0.039;DP=189;Dels=0.00;FS=3.499;HRun=0;HaplotypeScore=8.2307;MQ=56;MQ0=0;MQRankSum=1.968;QD=12.93;ReadPosRankSum=2.140;SB=-1059.72;TI=NM_000062,NM_001032295;GI=SERPING1,SERPING1;FC=Missense_V480M,Missense_V480M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,98:189:99:2473,0,2331:56:99:0.521 chr11 57563991 rs10896644 C T 456.44 PASS BaseQRankSum=-0.992;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=1.482;QD=11.41;ReadPosRankSum=1.264;SB=-293.17;TI=NR_037646,NM_001085458,NM_001331,NM_001085462,NM_001085463,NM_001085461,NM_001085459,NM_001085464,NM_001085469,NM_001085460,NM_001085467,NM_001085468,NM_001085466,NM_001085465;GI=TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1;FC=Silent,Synonymous_D161D,Synonymous_D161D,Synonymous_D161D,Synonymous_D60D,Synonymous_D161D,Synonymous_D161D,Synonymous_D60D,Synonymous_D60D,Synonymous_D161D,Synonymous_D60D,Synonymous_D60D,Synonymous_D60D,Synonymous_D60D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,18:40:99:486,0,507:56:99:0.450 chr11 57571232 rs11229137 C T 5522.18 PASS DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=29.06;SB=-3285.44;TI=NR_037646,NM_001085458,NM_001331,NM_001085462,NM_001085463,NM_001085461,NM_001085459,NM_001085464,NM_001085469,NM_001085460,NM_001085467,NM_001085468,NM_001085466,NM_001085465;GI=TMX2-CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1,CTNND1;FC=Silent,Synonymous_H520H,Synonymous_H520H,Synonymous_H520H,Synonymous_H419H,Synonymous_H520H,Synonymous_H520H,Synonymous_H419H,Synonymous_H419H,Synonymous_H520H,Synonymous_H419H,Synonymous_H419H,Synonymous_H419H,Synonymous_H419H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,190:190:99:5522,403,0:52:99:1.000 chr11 58391501 rs1800169 G A 74.05 SB;LowDP BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-1.231;QD=14.81;ReadPosRankSum=0.358;SB=-0.01;TI=NR_024091,NM_000614;GI=ZFP91-CNTF,CNTF;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,3:5:64.91:104,0,65:60:65:0.600 chr11 59940599 rs7232 T A 892.59 PASS BaseQRankSum=2.218;DP=89;Dels=0.00;FS=0.797;HRun=0;HaplotypeScore=3.5489;MQ=55;MQ0=0;MQRankSum=0.063;QD=10.03;ReadPosRankSum=-0.773;SB=-623.21;TI=NM_152851,NM_152852,NM_022349;GI=MS4A6A,MS4A6A,MS4A6A;FC=Missense_N150I,Missense_T185S,Missense_T185S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,42:89:99:923,0,1040:55:99:0.477 chr11 59945745 rs12453 T C 2352.39 PASS BaseQRankSum=0.869;DP=202;Dels=0.00;FS=4.068;HRun=0;HaplotypeScore=6.3592;MQ=53;MQ0=0;MQRankSum=3.838;QD=11.65;ReadPosRankSum=-0.464;SB=-1288.33;TI=NM_152851,NM_152852,NM_022349;GI=MS4A6A,MS4A6A,MS4A6A;FC=Synonymous_L109L,Synonymous_L109L,Synonymous_L109L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,96:202:99:2382,0,2369:53:99:0.475 chr11 59949058 rs61742546 A G 1474.51 PASS BaseQRankSum=-0.603;DP=118;Dels=0.00;FS=2.420;HRun=0;HaplotypeScore=1.8899;MQ=56;MQ0=0;MQRankSum=2.531;QD=12.50;ReadPosRankSum=0.113;SB=-889.84;TI=NM_152851,NM_152852,NM_022349;GI=MS4A6A,MS4A6A,MS4A6A;FC=Missense_I48T,Missense_I48T,Missense_I48T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,61:118:99:1504,0,1320:56:99:0.517 chr11 60102384 rs2304935 A G 936.10 PASS BaseQRankSum=3.275;DP=78;Dels=0.00;FS=4.416;HRun=0;HaplotypeScore=4.6815;MQ=54;MQ0=0;MQRankSum=1.487;QD=12.00;ReadPosRankSum=0.020;SB=-732.45;TI=NM_139249;GI=MS4A6E;FC=Missense_I6V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,43:78:99:966,0,939:54:99:0.551 chr11 60102396 rs2304934 A G 1030.47 PASS BaseQRankSum=1.770;DP=86;Dels=0.00;FS=2.898;HRun=1;HaplotypeScore=4.6815;MQ=52;MQ0=0;MQRankSum=0.625;QD=11.98;ReadPosRankSum=0.278;SB=-754.33;TI=NM_139249;GI=MS4A6E;FC=Missense_T10A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,47:86:99:1060,0,1066:52:99:0.547 chr11 60102507 rs2304933 G T 621.45 PASS BaseQRankSum=0.019;DP=66;Dels=0.00;FS=0.950;HRun=2;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-0.676;QD=9.42;ReadPosRankSum=-1.268;SB=-348.12;TI=NM_139249;GI=MS4A6E;FC=Missense_V47F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,30:66:99:651,0,940:56:99:0.455 chr11 60264947 rs2298552 C T 1233.64 PASS BaseQRankSum=1.592;DP=99;Dels=0.00;FS=2.644;HRun=0;HaplotypeScore=10.3575;MQ=58;MQ0=0;MQRankSum=1.088;QD=12.46;ReadPosRankSum=-1.018;SB=-778.74;TI=NM_017716,NM_001164470;GI=MS4A12,MS4A12;FC=Synonymous_Y52Y,Synonymous_Y52Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,50:99:99:1264,0,1278:58:99:0.505 chr11 60265002 rs2298553 C T 1631.90 PASS BaseQRankSum=-0.002;DP=134;Dels=0.00;FS=3.185;HRun=0;HaplotypeScore=5.5569;MQ=55;MQ0=0;MQRankSum=0.505;QD=12.18;ReadPosRankSum=-0.381;SB=-1021.36;TI=NM_017716,NM_001164470;GI=MS4A12,MS4A12;FC=Nonsense_Q71X,Nonsense_Q71X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,66:134:99:1662,0,1693:55:99:0.493 chr11 60619078 rs41465646 G A 3490.86 PASS BaseQRankSum=4.972;DP=229;Dels=0.00;FS=22.664;HRun=0;HaplotypeScore=10.1286;MQ=55;MQ0=0;MQRankSum=-1.726;QD=15.24;ReadPosRankSum=-1.306;SB=-2051.14;TI=NM_004778;GI=GPR44;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,127:229:99:3491,0,2779:55:99:0.557 chr11 60620585 rs2467642 A G 2566.84 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0454;MQ=56;MQ0=0;QD=30.56;SB=-1398.70;TI=NM_004778;GI=GPR44;FC=Missense_V204A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2600,196,0:56:99:1.000 chr11 60620590 rs2428461 C G 2607.33 PASS DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.9395;MQ=56;MQ0=0;QD=29.63;SB=-1406.74;TI=NM_004778;GI=GPR44;FC=Synonymous_R202R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2640,196,0:56:99:1.000 chr11 60882546 rs62641694 G A 814.80 PASS BaseQRankSum=-0.296;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=53;MQ0=0;MQRankSum=2.135;QD=9.16;ReadPosRankSum=-1.486;SB=-542.72;TI=NM_014207;GI=CD5;FC=Missense_R25Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,37:89:99:845,0,1216:53:99:0.416 chr11 60886913 rs2241002 C T 1286.08 PASS BaseQRankSum=-1.889;DP=109;Dels=0.00;FS=9.318;HRun=0;HaplotypeScore=4.7601;MQ=57;MQ0=0;MQRankSum=-1.058;QD=11.80;ReadPosRankSum=-0.929;SB=-738.22;TI=NM_014207;GI=CD5;FC=Missense_P224L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,51:109:99:1316,0,1625:57:99:0.472 chr11 60892606 rs637186 A G 3176.13 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4741;MQ=54;MQ0=0;QD=27.62;SB=-2173.00;TI=NM_014207;GI=CD5;FC=Missense_H461R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3209,232,0:54:99:1.000 chr11 60893235 rs2229177 C T 1032.95 PASS BaseQRankSum=-1.659;DP=90;Dels=0.00;FS=2.780;HRun=1;HaplotypeScore=2.8936;MQ=48;MQ0=0;MQRankSum=0.674;QD=11.48;ReadPosRankSum=0.182;SB=-647.75;TI=NM_014207;GI=CD5;FC=Missense_A471V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,46:90:99:1063,0,962:48:99:0.511 chr11 61165280 rs3741265 G A 2590.64 PASS BaseQRankSum=0.246;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=50;MQ0=0;MQRankSum=1.856;QD=12.70;ReadPosRankSum=1.036;SB=-1685.54;TI=NM_001173990,NM_001173991,NM_016499;GI=TMEM216,TMEM216,TMEM216;FC=Synonymous_P88P,Synonymous_P88P,Synonymous_P27P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,109:204:99:2621,0,2182:50:99:0.537 chr11 61165731 rs11382548 C CA 5260.69 PASS BaseQRankSum=12.386;DP=305;FS=1.997;HRun=0;HaplotypeScore=623.2481;MQ=57;MQ0=0;MQRankSum=5.496;QD=17.25;ReadPosRankSum=0.569;SB=-1764.82;TI=NM_001173990,NM_001173991,NM_016499;GI=TMEM216,TMEM216,TMEM216;FC=Noncoding,Splicing,Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:169,136:305:99:5261,0,6577:57:99:0.446 chr11 61165741 rs10897158 G C 4157.57 PASS BaseQRankSum=-0.004;DP=322;Dels=0.00;FS=3.184;HRun=0;HaplotypeScore=4.4704;MQ=56;MQ0=0;MQRankSum=2.952;QD=12.91;ReadPosRankSum=-0.905;SB=-1570.71;TI=NM_001173990,NM_001173991,NM_016499;GI=TMEM216,TMEM216,TMEM216;FC=Silent,Missense_R147T,Missense_R86T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:170,152:322:99:4158,0,4456:56:99:0.472 chr11 61719387 rs1800007 T C 1214.75 PASS BaseQRankSum=-0.328;DP=115;Dels=0.00;FS=3.441;HRun=1;HaplotypeScore=2.6548;MQ=53;MQ0=0;MQRankSum=-1.240;QD=10.56;ReadPosRankSum=1.509;SB=-856.11;TI=NM_001139443,NM_004183;GI=BEST1,BEST1;FC=Silent,Synonymous_L37L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,55:115:99:1245,0,1468:53:99:0.478 chr11 61730036 rs149698 G A 2632.77 PASS BaseQRankSum=-0.021;DP=181;Dels=0.00;FS=7.845;HRun=0;HaplotypeScore=6.3579;MQ=54;MQ0=0;MQRankSum=3.412;QD=14.55;ReadPosRankSum=3.088;SB=-1149.95;TI=NM_001139443,NM_004183;GI=BEST1,BEST1;FC=Synonymous_T410T,Synonymous_T470T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,98:181:99:2663,0,2026:54:99:0.541 chr11 62381106 rs1799959 G C 2799.91 PASS DP=90;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.2585;MQ=58;MQ0=0;QD=31.11;SB=-1543.79;TI=NM_000327;GI=ROM1;FC=Missense_G118A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2833,217,0:58:99:1.000 chr11 62381808 rs1801144 G C 1008.92 PASS BaseQRankSum=-1.104;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.7123;MQ=52;MQ0=0;MQRankSum=0.970;QD=11.47;ReadPosRankSum=1.046;SB=-644.08;TI=NM_000327;GI=ROM1;FC=Synonymous_R223R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,47:88:99:1039,0,908:52:99:0.534 chr11 62458275 rs6856 T C 2228.61 PASS BaseQRankSum=1.338;DP=174;Dels=0.00;FS=1.879;HRun=1;HaplotypeScore=9.2031;MQ=54;MQ0=0;MQRankSum=1.059;QD=12.81;ReadPosRankSum=1.890;SB=-1492.23;TI=NM_032667,NM_001122955,NM_001130702;GI=BSCL2,BSCL2,BSCL2;FC=Synonymous_E315E,Synonymous_E379E,Synonymous_E379E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,90:174:99:2259,0,2223:54:99:0.523 chr11 62469929 rs72929434 C A 752.30 PASS BaseQRankSum=1.628;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=49;MQ0=0;MQRankSum=1.233;QD=7.38;ReadPosRankSum=-0.254;SB=-495.45;TI=NM_032667,NM_001122955,NM_001130702;GI=BSCL2,BSCL2,BSCL2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,35:102:99:782,0,1604:49:99:0.343 chr11 62748861 . A G 180.84 SB BaseQRankSum=-3.300;DP=73;Dels=0.00;FS=24.036;HRun=3;HaplotypeScore=44.5459;MQ=40;MQ0=0;MQRankSum=-3.048;QD=2.48;ReadPosRankSum=-0.054;SB=-0.01;TI=NM_153277,NM_004790,NM_153276,NM_153278;GI=SLC22A6,SLC22A6,SLC22A6,SLC22A6;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,22:73:99:211,0,1282:40:99:0.301 chr11 62748863 rs11568611 C G 271.83 SB BaseQRankSum=-2.441;DP=65;Dels=0.00;FS=35.487;HRun=5;HaplotypeScore=43.2175;MQ=40;MQ0=0;MQRankSum=-3.411;QD=4.18;ReadPosRankSum=-0.123;SB=-0.01;TI=NM_153277,NM_004790,NM_153276,NM_153278;GI=SLC22A6,SLC22A6,SLC22A6,SLC22A6;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,20:65:99:302,0,1105:40:99:0.313 chr11 63175593 rs61742518 C T 1734.86 PASS BaseQRankSum=2.864;DP=200;Dels=0.00;FS=1.127;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=0.797;QD=8.67;ReadPosRankSum=1.340;SB=-1102.13;TI=NM_080866;GI=SLC22A9;FC=Missense_T433M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,79:200:99:1765,0,2864:55:99:0.395 chr11 64359154 . C T 660.83 PASS BaseQRankSum=0.074;DP=68;Dels=0.00;FS=2.143;HRun=0;HaplotypeScore=1.7608;MQ=51;MQ0=0;MQRankSum=1.823;QD=9.72;ReadPosRankSum=-0.955;SB=-260.18;TI=NM_144585,NM_153378;GI=SLC22A12,SLC22A12;FC=Synonymous_A42A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,29:68:99:691,0,1007:51:99:0.426 chr11 64359286 rs3825016 C T 4524.58 PASS DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0763;MQ=55;MQ0=0;QD=29.57;SB=-2572.42;TI=NM_144585,NM_153378;GI=SLC22A12,SLC22A12;FC=Synonymous_H86H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,152:153:99:4525,328,0:55:99:1.000 chr11 64360274 rs11231825 T C 3941.01 PASS DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.6811;MQ=52;MQ0=0;QD=27.18;SB=-2691.38;TI=NM_144585,NM_153378;GI=SLC22A12,SLC22A12;FC=Synonymous_H142H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,145:145:99:3941,283,0:52:99:1.000 chr11 64367325 rs1630320 A G 1342.95 PASS DP=54;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=24.87;SB=-974.50;TI=NM_144585,NM_153378;GI=SLC22A12,SLC22A12;FC=Synonymous_A416A,Synonymous_A195A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1376,99,0:55:99:1.000 chr11 64375462 . A G 4.78 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=0.397;DP=16;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=17.4742;MQ=47;MQ0=0;MQRankSum=-1.826;QD=0.30;ReadPosRankSum=1.985;SB=-0.01;TI=NM_138734,NM_015080,NM_138732;GI=NRXN2,NRXN2,NRXN2;FC=Missense_F403L,Missense_F1449L,Missense_F1379L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,2:16:33.02:33,0,249:47:5:0.125 chr11 64375466 . A G 3.04 LowGQX;SB;LowDP BaseQRankSum=-0.650;DP=15;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=16.5730;MQ=46;MQ0=0;MQRankSum=-1.516;QD=0.20;ReadPosRankSum=0.505;SB=-0.01;TI=NM_138734,NM_015080,NM_138732;GI=NRXN2,NRXN2,NRXN2;FC=Synonymous_P401P,Synonymous_P1447P,Synonymous_P1377P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,3:15:30.04:30,0,247:46:3:0.200 chr11 64375483 . A G 4.28 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=0.296;DP=13;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=7.3245;MQ=44;MQ0=0;MQRankSum=0.099;QD=0.33;ReadPosRankSum=-0.296;SB=-0.01;TI=NM_138734,NM_015080,NM_138732;GI=NRXN2,NRXN2,NRXN2;FC=Missense_F396L,Missense_F1442L,Missense_F1372L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,2:13:32.25:32,0,178:44:4:0.154 chr11 64418900 rs526338 G A 2217.81 PASS BaseQRankSum=1.689;DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6546;MQ=54;MQ0=0;MQRankSum=-1.083;QD=27.72;ReadPosRankSum=0.520;SB=-1369.95;TI=NM_015080,NM_138732;GI=NRXN2,NRXN2;FC=Synonymous_I915I,Synonymous_I875I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,79:80:99:2251,163,0:54:99:0.988 chr11 64480641 rs2518907 G A 1568.78 PASS DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5310;MQ=53;MQ0=0;QD=27.05;SB=-720.85;TI=NM_015080,NM_138732;GI=NRXN2,NRXN2;FC=Synonymous_G177G,Synonymous_G177G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:58:99:1602,117,0:53:99:1.000 chr11 64519958 . T C 1453.10 PASS BaseQRankSum=0.430;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4101;MQ=54;MQ0=0;MQRankSum=-1.159;QD=13.45;ReadPosRankSum=-0.268;SB=-931.83;TI=NM_001164716,NM_005609;GI=PYGM,PYGM;FC=Missense_I425V,Missense_I513V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,63:108:99:1483,0,1010:54:99:0.583 chr11 64572018 rs2959656 T C 2247.89 PASS DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6819;MQ=57;MQ0=0;QD=27.41;SB=-1231.86;TI=NM_130801,NM_130800,NM_000244,NM_130799,NM_130802,NM_130804,NM_130803;GI=MEN1,MEN1,MEN1,MEN1,MEN1,MEN1,MEN1;FC=Missense_T546A,Missense_T546A,Missense_T546A,Missense_T541A,Missense_T546A,Missense_T546A,Missense_T546A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2281,166,0:57:99:1.000 chr11 64572557 rs540012 A G 1443.91 PASS DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9996;MQ=52;MQ0=0;QD=26.74;SB=-998.21;TI=NM_130801,NM_130800,NM_000244,NM_130799,NM_130802,NM_130804,NM_130803;GI=MEN1,MEN1,MEN1,MEN1,MEN1,MEN1,MEN1;FC=Synonymous_H438H,Synonymous_H438H,Synonymous_H438H,Synonymous_H433H,Synonymous_H438H,Synonymous_H438H,Synonymous_H438H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1477,105,0:52:99:1.000 chr11 64572602 rs2071313 G A 825.81 PASS BaseQRankSum=1.985;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8555;MQ=51;MQ0=0;MQRankSum=-1.134;QD=9.18;ReadPosRankSum=2.179;SB=-650.89;TI=NM_130801,NM_130800,NM_000244,NM_130799,NM_130802,NM_130804,NM_130803;GI=MEN1,MEN1,MEN1,MEN1,MEN1,MEN1,MEN1;FC=Synonymous_D423D,Synonymous_D423D,Synonymous_D423D,Synonymous_D418D,Synonymous_D423D,Synonymous_D423D,Synonymous_D423D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,41:90:99:856,0,1013:51:99:0.456 chr11 65412467 rs2306364 G A 6115.21 PASS BaseQRankSum=1.847;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.7395;MQ=57;MQ0=0;MQRankSum=2.038;QD=29.12;ReadPosRankSum=-1.062;SB=-2693.06;TI=NM_006747,NM_153253;GI=SIPA1,SIPA1;FC=Synonymous_A342A,Synonymous_A342A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,207:210:99:6115,356,0:57:99:0.986 chr11 65415028 rs4930157 T G 650.29 PASS DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5658;MQ=57;MQ0=0;QD=27.10;SB=-371.98;TI=NM_006747,NM_153253;GI=SIPA1,SIPA1;FC=Synonymous_T735T,Synonymous_T735T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:51.16:683,51,0:57:51:1.000 chr11 65417434 rs746429 G A 5769.64 PASS DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8453;MQ=57;MQ0=0;QD=31.53;SB=-3236.96;TI=NM_006747,NM_153253;GI=SIPA1,SIPA1;FC=Synonymous_A920A,Synonymous_A920A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,183:183:99:5770,427,0:57:99:1.000 chr11 65636053 rs601314 T C 6680.59 PASS DP=237;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0428;MQ=53;MQ0=0;QD=28.19;SB=-3797.79;TI=NM_016938;GI=EFEMP2;FC=Missense_I259V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,236:237:99:6681,485,0:53:99:1.000 chr11 65638719 rs633800 G A 5289.78 PASS DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7525;MQ=53;MQ0=0;QD=26.32;SB=-3677.16;TI=NM_016938;GI=EFEMP2;FC=Synonymous_H92H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,200:201:99:5290,379,0:53:99:1.000 chr11 65640204 rs2303384 C T 1067.20 PASS DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=28.84;SB=-434.69;TI=NM_016938;GI=EFEMP2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,37:37:81.26:1100,81,0:52:81:1.000 chr11 65729571 . A G 29.18 LowVariantFreq;SB BaseQRankSum=-1.800;DP=28;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=10.4548;MQ=52;MQ0=0;MQRankSum=-3.419;QD=1.04;ReadPosRankSum=-1.740;SB=-0.01;TI=NM_005146;GI=SART1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,5:28:59.17:59,0,509:52:29:0.179 chr11 65733393 rs688862 C T 1276.76 PASS DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=31.14;SB=-542.84;TI=NM_005146;GI=SART1;FC=Synonymous_T258T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:96.31:1310,96,0:57:96:1.000 chr11 65787666 rs3829937 G A 3795.95 PASS BaseQRankSum=1.481;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5596;MQ=55;MQ0=0;MQRankSum=0.754;QD=30.61;ReadPosRankSum=-1.676;SB=-1498.44;TI=NM_053054;GI=CATSPER1;FC=Synonymous_A690A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,123:124:99:3796,252,0:55:99:0.992 chr11 65788072 rs3814747 C T 4549.63 PASS DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0194;MQ=51;MQ0=0;QD=27.24;SB=-3156.30;TI=NM_053054;GI=CATSPER1;FC=Missense_V652I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:167:99:4550,325,0:51:99:1.000 chr11 65810045 rs4565902 T G 536.32 LowDP DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=28.23;SB=-226.56;TI=NM_033036;GI=GAL3ST3;FC=Missense_E410A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:19:42.13:569,42,0:52:42:1.000 chr11 65810239 rs78578425 G A 1334.44 PASS DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7396;MQ=52;MQ0=0;QD=24.71;SB=-810.43;TI=NM_033036;GI=GAL3ST3;FC=Synonymous_A345A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:54:96.32:1367,96,0:52:96:1.000 chr11 65810749 rs7937692 T C 5526.52 PASS DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.4295;MQ=56;MQ0=0;QD=27.22;SB=-3779.51;TI=NM_033036;GI=GAL3ST3;FC=Synonymous_V175V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,201:203:99:5527,397,0:56:99:1.000 chr11 66131906 rs7125100 A G 460.21 SB;LowDP DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=35.40;SB=-0.01;TI=NM_001532;GI=SLC29A2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,13:13:39.12:493,39,0:52:39:1.000 chr11 66282095 rs2298806 G A 491.29 PASS BaseQRankSum=-0.640;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=51;MQ0=0;MQRankSum=1.676;QD=10.68;ReadPosRankSum=1.742;SB=-326.40;TI=NM_024649;GI=BBS1;FC=Synonymous_L126L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,21:46:99:521,0,594:51:99:0.457 chr11 66288733 rs10896125 G C 788.00 PASS BaseQRankSum=-0.101;DP=64;Dels=0.00;FS=2.154;HRun=0;HaplotypeScore=4.5818;MQ=56;MQ0=0;MQRankSum=-0.183;QD=12.31;ReadPosRankSum=-0.210;SB=-467.13;TI=NM_024649;GI=BBS1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,36:64:99:818,0,632:56:99:0.563 chr11 66297363 rs3816492 C T 2928.90 PASS BaseQRankSum=-0.851;DP=220;Dels=0.00;FS=5.620;HRun=1;HaplotypeScore=9.8844;MQ=53;MQ0=0;MQRankSum=-0.385;QD=13.31;ReadPosRankSum=-1.054;SB=-2007.45;TI=NM_024649;GI=BBS1;FC=Synonymous_L471L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,125:220:99:2959,0,2185:53:99:0.568 chr11 66299515 rs8432 A G 781.40 PASS BaseQRankSum=1.774;DP=95;Dels=0.00;FS=4.012;HRun=1;HaplotypeScore=3.7038;MQ=53;MQ0=0;MQRankSum=1.411;QD=8.23;ReadPosRankSum=0.087;SB=-484.19;TI=NM_024649;GI=BBS1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,39:95:99:811,0,1141:53:99:0.411 chr11 66327673 rs1671064 G A 1647.67 PASS BaseQRankSum=1.033;DP=142;Dels=0.00;FS=1.358;HRun=0;HaplotypeScore=5.5759;MQ=52;MQ0=0;MQRankSum=1.657;QD=11.60;ReadPosRankSum=-0.669;SB=-1056.46;TI=NM_001104;GI=ACTN3;FC=Missense_R523Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,73:142:99:1678,0,1662:52:99:0.514 chr11 66328095 rs1815739 T C 1073.29 PASS BaseQRankSum=-0.980;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5215;MQ=55;MQ0=0;MQRankSum=2.586;QD=11.54;ReadPosRankSum=-1.487;SB=-625.95;TI=NM_001104;GI=ACTN3;FC=Missense_X577R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,47:93:99:1103,0,1211:55:99:0.505 chr11 66328719 rs618838 T C 817.05 PASS BaseQRankSum=0.649;DP=56;Dels=0.00;FS=2.337;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=2.390;QD=14.59;ReadPosRankSum=-0.633;SB=-327.38;TI=NM_001104;GI=ACTN3;FC=Missense_C628R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,30:56:99:847,0,642:55:99:0.536 chr11 66329732 rs540874 A G 2084.48 PASS BaseQRankSum=2.071;DP=145;Dels=0.00;FS=4.044;HRun=1;HaplotypeScore=4.4430;MQ=53;MQ0=0;MQRankSum=1.197;QD=14.38;ReadPosRankSum=0.767;SB=-1309.11;TI=NM_001104;GI=ACTN3;FC=Missense_Q776R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,86:145:99:2114,0,1413:53:99:0.593 chr11 66330533 rs71457732 C T 3004.67 PASS BaseQRankSum=0.864;DP=278;Dels=0.00;FS=2.152;HRun=0;HaplotypeScore=12.4519;MQ=55;MQ0=0;MQRankSum=0.659;QD=10.81;ReadPosRankSum=-0.340;SB=-1205.87;TI=NM_001104;GI=ACTN3;FC=Missense_R859C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:158,120:278:99:3035,0,4026:55:99:0.432 chr11 66472274 rs4930388 T C 3288.13 PASS DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5285;MQ=57;MQ0=0;QD=32.24;SB=-1178.66;TI=NM_006946;GI=SPTBN2;FC=Missense_S825G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:102:99:3288,247,0:57:99:1.000 chr11 66481633 rs34775878 G A 987.59 PASS BaseQRankSum=0.871;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=52;MQ0=0;MQRankSum=-0.559;QD=9.23;ReadPosRankSum=1.839;SB=-794.76;TI=NM_006946;GI=SPTBN2;FC=Synonymous_N195N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,50:107:99:1018,0,1452:52:99:0.467 chr11 67257823 rs641081 C A 5359.82 PASS DP=178;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7879;MQ=56;MQ0=0;QD=30.11;SB=-3498.05;TI=NM_003977;GI=AIP;FC=Missense_Q228K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,178:178:99:5360,388,0:56:99:1.000 chr11 67258391 rs4930199 A G 2082.60 PASS DP=72;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7523;MQ=54;MQ0=0;QD=28.92;SB=-1238.21;TI=NM_003977;GI=AIP;FC=Missense_Q307R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:2116,153,0:54:99:1.000 chr11 67759316 rs4014596 C T 33.85 LowVariantFreq;SB BaseQRankSum=-0.771;DP=189;Dels=0.00;FS=2.083;HRun=0;HaplotypeScore=8.9105;MQ=50;MQ0=9;MQRankSum=-4.857;QD=0.18;ReadPosRankSum=-0.062;SB=-1.99;TI=NM_030930;GI=UNC93B1;FC=Synonymous_R498R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:168,21:189:63.84:64,0,4154:50:34:0.111 chr11 67765163 rs5792426 A AG 3415.81 PASS DP=82;FS=0.000;HRun=1;HaplotypeScore=52.3418;MQ=60;MQ0=0;QD=41.66;SB=-1244.42;TI=NM_030930;GI=UNC93B1;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,80:82:99:3416,246,0:60:99:0.976 chr11 67814979 rs2471829 G C 2175.75 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=28.26;SB=-1370.03;TI=NM_006019,NM_006053;GI=TCIRG1,TCIRG1;FC=Synonymous_L415L,Synonymous_L199L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2209,163,0:53:99:1.000 chr11 67941390 rs3832715 G GA 2837.15 R8 BaseQRankSum=2.154;DP=125;FS=0.000;HRun=9;HaplotypeScore=118.9904;MQ=59;MQ0=0;MQRankSum=1.230;QD=22.70;ReadPosRankSum=0.604;SB=-962.02;TI=NM_017635,NM_016028;GI=SUV420H1,SUV420H1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:22,99:125:99:2879,178,0:59:99:0.818 chr11 67957518 rs2512606 A T 1459.99 PASS DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.63;SB=-1001.98;TI=NM_017635,NM_016028;GI=SUV420H1,SUV420H1;FC=Missense_I9N,Missense_I9N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:99:1493,108,0:54:99:1.000 chr11 68133035 rs314776 T C 1070.60 PASS BaseQRankSum=0.950;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=1.055;QD=9.56;ReadPosRankSum=-0.220;SB=-654.31;TI=NM_002335;GI=LRP5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,48:112:99:1101,0,1502:52:99:0.429 chr11 68171013 rs545382 T C 1770.19 PASS BaseQRankSum=-0.554;DP=173;Dels=0.00;FS=0.570;HRun=0;HaplotypeScore=2.6274;MQ=53;MQ0=0;MQRankSum=2.747;QD=10.23;ReadPosRankSum=1.271;SB=-1179.96;TI=NM_002335;GI=LRP5;FC=Synonymous_F549F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,78:173:99:1800,0,2272:53:99:0.451 chr11 68192690 rs556442 G A 1666.86 PASS BaseQRankSum=1.253;DP=146;Dels=0.00;FS=6.055;HRun=0;HaplotypeScore=3.5489;MQ=55;MQ0=0;MQRankSum=3.825;QD=11.42;ReadPosRankSum=2.439;SB=-1082.31;TI=NM_002335;GI=LRP5;FC=Synonymous_V1119V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,67:146:99:1697,0,1954:55:99:0.459 chr11 68193582 . G A 326.64 PASS BaseQRankSum=-0.588;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7871;MQ=54;MQ0=0;MQRankSum=1.602;QD=10.21;ReadPosRankSum=-0.710;SB=-176.86;TI=NM_002335;GI=LRP5;FC=Synonymous_R1188R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,12:32:99:357,0,426:54:99:0.387 chr11 68201295 rs3736228 C T 907.67 PASS BaseQRankSum=1.171;DP=69;Dels=0.00;FS=5.229;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.604;QD=13.15;ReadPosRankSum=0.631;SB=-456.12;TI=NM_002335;GI=LRP5;FC=Missense_A1330V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,36:69:99:938,0,921:55:99:0.522 chr11 68549340 rs2228502 A G 3159.83 PASS BaseQRankSum=1.791;DP=259;Dels=0.00;FS=0.458;HRun=0;HaplotypeScore=14.7659;MQ=52;MQ0=0;MQRankSum=0.350;QD=12.20;ReadPosRankSum=0.242;SB=-2074.47;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Synonymous_F417F,Synonymous_F417F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,135:259:99:3190,0,2923:52:99:0.521 chr11 68552486 rs2305507 G A 1004.23 PASS BaseQRankSum=2.134;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3855;MQ=56;MQ0=0;MQRankSum=1.790;QD=12.25;ReadPosRankSum=0.321;SB=-646.56;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,44:82:99:1034,0,894:56:99:0.537 chr11 68671419 rs4930624 C T 1099.27 PASS BaseQRankSum=-1.027;DP=98;Dels=0.00;FS=5.121;HRun=0;HaplotypeScore=2.5655;MQ=55;MQ0=0;MQRankSum=-0.920;QD=11.22;ReadPosRankSum=-0.221;SB=-663.13;TI=NM_002180;GI=IGHMBP2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,45:98:99:1129,0,1299:55:99:0.459 chr11 68671477 rs1249463 T C 2701.41 PASS DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3772;MQ=57;MQ0=0;QD=27.85;SB=-1792.12;TI=NM_002180;GI=IGHMBP2;FC=Synonymous_L19L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:2734,199,0:57:99:1.000 chr11 68678962 rs560096 T C 2466.06 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.10;SB=-1763.12;TI=NM_002180;GI=IGHMBP2;FC=Missense_L201S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2499,178,0:53:99:1.000 chr11 68682402 rs10896380 A G 2400.75 PASS BaseQRankSum=0.981;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9676;MQ=54;MQ0=0;MQRankSum=0.172;QD=11.65;ReadPosRankSum=2.761;SB=-1423.56;TI=NM_002180;GI=IGHMBP2;FC=Missense_I275V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,106:206:99:2431,0,2397:54:99:0.515 chr11 68701948 rs11228413 C T 2064.08 PASS BaseQRankSum=0.819;DP=183;Dels=0.00;FS=3.358;HRun=1;HaplotypeScore=4.6817;MQ=53;MQ0=0;MQRankSum=-0.018;QD=11.28;ReadPosRankSum=-0.364;SB=-1537.20;TI=NM_002180;GI=IGHMBP2;FC=Synonymous_V518V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,92:183:99:2094,0,2058:53:99:0.503 chr11 68704028 rs2236654 C T 1165.27 PASS BaseQRankSum=0.816;DP=70;Dels=0.00;FS=16.144;HRun=0;HaplotypeScore=4.5383;MQ=59;MQ0=0;MQRankSum=-0.130;QD=16.65;ReadPosRankSum=0.272;SB=-449.97;TI=NM_002180;GI=IGHMBP2;FC=Missense_R694W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,39:70:99:1195,0,937:59:99:0.557 chr11 68705674 rs17612126 C A 1787.53 PASS BaseQRankSum=-0.009;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7798;MQ=54;MQ0=0;MQRankSum=1.037;QD=12.95;ReadPosRankSum=0.235;SB=-1056.87;TI=NM_002180;GI=IGHMBP2;FC=Missense_T879K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,73:138:99:1818,0,1600:54:99:0.529 chr11 68822739 rs1470892 T C 2385.98 PASS DP=78;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8319;MQ=54;MQ0=0;QD=30.59;SB=-1467.43;TI=NM_139075;GI=TPCN2;FC=Synonymous_A116A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2419,181,0:54:99:1.000 chr11 68825037 rs3750973 A C 1626.12 PASS BaseQRankSum=2.529;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=55;MQ0=0;MQRankSum=1.490;QD=12.91;ReadPosRankSum=0.637;SB=-1011.48;TI=NM_139075;GI=TPCN2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,69:126:99:1656,0,1257:55:99:0.548 chr11 68834968 rs6591368 T C 1980.93 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2618;MQ=52;MQ0=0;QD=25.73;SB=-1459.16;TI=NM_139075;GI=TPCN2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2014,144,0:52:99:1.000 chr11 68840397 rs1466221 T C 1537.66 PASS BaseQRankSum=-1.567;DP=146;Dels=0.00;FS=2.086;HRun=0;HaplotypeScore=5.3645;MQ=50;MQ0=0;MQRankSum=-0.876;QD=10.53;ReadPosRankSum=-1.382;SB=-912.71;TI=NM_139075;GI=TPCN2;FC=Synonymous_Y386Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,67:146:99:1568,0,1844:50:99:0.459 chr11 68840412 rs1466220 C G 1609.73 PASS BaseQRankSum=0.409;DP=177;Dels=0.00;FS=1.932;HRun=0;HaplotypeScore=3.5215;MQ=49;MQ0=0;MQRankSum=-1.384;QD=9.09;ReadPosRankSum=1.093;SB=-929.85;TI=NM_139075;GI=TPCN2;FC=Synonymous_L391L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,74:177:99:1640,0,2409:49:99:0.418 chr11 68851414 rs2376558 T C 1805.24 PASS BaseQRankSum=-0.223;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=-0.247;QD=12.71;ReadPosRankSum=-1.115;SB=-1200.51;TI=NM_139075;GI=TPCN2;FC=Missense_L564P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,76:142:99:1835,0,1472:54:99:0.535 chr11 68851466 rs896973 G T 1130.03 PASS BaseQRankSum=1.368;DP=78;Dels=0.00;FS=1.855;HRun=3;HaplotypeScore=4.5463;MQ=55;MQ0=0;MQRankSum=-0.486;QD=14.49;ReadPosRankSum=1.298;SB=-681.88;TI=NM_139075;GI=TPCN2;FC=Synonymous_A581A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,42:78:99:1160,0,910:55:99:0.538 chr11 68855363 rs3829241 G A 2745.79 PASS BaseQRankSum=1.001;DP=236;Dels=0.00;FS=1.012;HRun=0;HaplotypeScore=4.3882;MQ=54;MQ0=0;MQRankSum=1.959;QD=11.63;ReadPosRankSum=1.633;SB=-1878.03;TI=NM_139075;GI=TPCN2;FC=Missense_G734E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,121:236:99:2776,0,2458:54:99:0.515 chr11 69462910 rs9344 G A 652.08 PASS BaseQRankSum=-0.526;DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=1.162;QD=15.16;ReadPosRankSum=-0.697;SB=-294.70;TI=NM_053056;GI=CCND1;FC=Synonymous_P241P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,24:43:99:682,0,487:55:99:0.558 chr11 71146577 rs909217 G A 3200.09 PASS BaseQRankSum=0.920;DP=284;Dels=0.00;FS=4.779;HRun=0;HaplotypeScore=12.7603;MQ=57;MQ0=0;MQRankSum=2.418;QD=11.27;ReadPosRankSum=-1.406;SB=-1680.34;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_G424G,Synonymous_G424G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:149,135:284:99:3230,0,3733:57:99:0.475 chr11 71146691 rs760241 A G 8398.47 PASS DP=269;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.5954;MQ=55;MQ0=0;QD=31.22;SB=-3660.87;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_D386D,Synonymous_D386D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,268:269:99:8398,617,0:55:99:1.000 chr11 71152461 rs949177 A G 1721.27 PASS DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=30.74;SB=-673.18;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_N146N,Synonymous_N146N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:1754,129,0:56:99:1.000 chr11 71155153 rs1790334 A G 3792.43 PASS BaseQRankSum=1.707;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.2715;MQ=50;MQ0=0;MQRankSum=1.579;QD=27.89;ReadPosRankSum=-0.560;SB=-2214.45;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_T69T,Synonymous_T69T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,135:136:99:3792,274,0:50:99:0.993 chr11 71155171 rs1044482 C T 1132.97 PASS BaseQRankSum=0.622;DP=108;Dels=0.00;FS=0.760;HRun=1;HaplotypeScore=10.2423;MQ=50;MQ0=0;MQRankSum=-1.604;QD=10.49;ReadPosRankSum=1.135;SB=-590.66;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_Q63Q,Synonymous_Q63Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,49:108:99:1163,0,1482:50:99:0.458 chr11 73689104 rs660339 G A 869.82 PASS BaseQRankSum=1.002;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=55;MQ0=0;MQRankSum=-1.349;QD=15.53;ReadPosRankSum=-0.985;SB=-308.07;TI=NM_003355;GI=UCP2;FC=Missense_A55V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,32:56:99:900,0,641:55:99:0.571 chr11 73715542 rs2075577 G A 1002.69 PASS BaseQRankSum=1.998;DP=123;Dels=0.00;FS=0.708;HRun=0;HaplotypeScore=3.5997;MQ=51;MQ0=0;MQRankSum=-0.092;QD=8.15;ReadPosRankSum=-1.578;SB=-672.55;TI=NM_003356,NM_022803;GI=UCP3,UCP3;FC=Synonymous_Y210Y,Synonymous_Y210Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,45:123:99:1033,0,1746:51:99:0.366 chr11 74877004 rs3740839 G A 740.82 PASS BaseQRankSum=2.656;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5423;MQ=52;MQ0=0;MQRankSum=0.483;QD=9.15;ReadPosRankSum=0.608;SB=-465.25;TI=NM_001145212,NM_007256,NM_001145211;GI=SLCO2B1,SLCO2B1,SLCO2B1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,34:81:99:771,0,1143:52:99:0.420 chr11 74880357 rs75987864 G A 1499.18 PASS BaseQRankSum=-0.554;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.6224;MQ=56;MQ0=0;MQRankSum=-1.066;QD=9.99;ReadPosRankSum=-0.899;SB=-908.70;TI=NM_001145212,NM_007256,NM_001145211;GI=SLCO2B1,SLCO2B1,SLCO2B1;FC=Synonymous_Q52Q,Synonymous_Q196Q,Synonymous_Q174Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,65:150:99:1529,0,1914:56:99:0.433 chr11 74883577 rs12422149 G A 2709.07 PASS BaseQRankSum=0.154;DP=183;Dels=0.01;FS=5.696;HRun=3;HaplotypeScore=11.9687;MQ=58;MQ0=0;MQRankSum=1.381;QD=14.80;ReadPosRankSum=0.108;SB=-1125.35;TI=NM_001145212,NM_007256,NM_001145211;GI=SLCO2B1,SLCO2B1,SLCO2B1;FC=Missense_R168Q,Missense_R312Q,Missense_R290Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,106:182:99:2739,0,1792:58:99:0.586 chr11 74904362 rs1621378 T C 7536.17 PASS DP=258;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=55;MQ0=0;QD=29.21;SB=-3905.36;TI=NM_001145212,NM_007256,NM_001145211;GI=SLCO2B1,SLCO2B1,SLCO2B1;FC=Missense_I248T,Missense_I392T,Missense_I370T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,258:258:99:7536,548,0:55:99:1.000 chr11 75277628 rs584961 A G 5968.66 PASS DP=212;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.4815;MQ=55;MQ0=0;QD=28.15;SB=-4001.73;TI=NM_001235;GI=SERPINH1;FC=Synonymous_L78L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,212:212:99:5969,433,0:55:99:1.000 chr11 75277757 rs650241 C G 5012.51 PASS DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6195;MQ=57;MQ0=0;QD=31.13;SB=-2849.29;TI=NM_001235;GI=SERPINH1;FC=Synonymous_S121S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,161:161:99:5013,367,0:57:99:1.000 chr11 75279846 rs649257 C T 2450.58 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=51;MQ0=0;QD=28.50;SB=-1497.82;TI=NM_001235;GI=SERPINH1;FC=Synonymous_T231T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2484,181,0:51:99:1.000 chr11 75282882 rs585821 G A 4351.13 PASS DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6104;MQ=57;MQ0=0;QD=29.40;SB=-2120.58;TI=NM_001235;GI=SERPINH1;FC=Synonymous_L337L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:148:99:4351,313,0:57:99:1.000 chr11 75298699 . C T 32.59 LowVariantFreq;SB BaseQRankSum=-3.312;DP=73;Dels=0.00;FS=1.738;HRun=0;HaplotypeScore=7.4647;MQ=54;MQ0=0;MQRankSum=1.823;QD=0.45;ReadPosRankSum=0.960;SB=-0.01;TI=NM_033063;GI=MAP6;FC=Missense_G616D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,12:73:62.58:63,0,1351:54:33:0.164 chr11 75298797 rs1231128 A G 572.01 PASS BaseQRankSum=-1.101;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=57;MQ0=0;MQRankSum=-1.143;QD=11.92;ReadPosRankSum=-0.623;SB=-249.71;TI=NM_033063;GI=MAP6;FC=Synonymous_D583D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,21:48:99:602,0,692:57:99:0.438 chr11 75378674 rs12225010 A C 650.83 LowDP DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=34.25;SB=-307.17;TI=NM_033063,NM_207577;GI=MAP6,MAP6;FC=Missense_I247M,Missense_I247M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:19:51.17:684,51,0:58:51:1.000 chr11 76853783 rs1052030 T C 1511.97 PASS BaseQRankSum=-0.244;DP=141;Dels=0.00;FS=0.626;HRun=0;HaplotypeScore=6.2038;MQ=54;MQ0=0;MQRankSum=0.761;QD=10.72;ReadPosRankSum=-0.728;SB=-1136.32;TI=NM_001127179,NM_000260,NM_001127180;GI=MYO7A,MYO7A,MYO7A;FC=Missense_L16S,Missense_L16S,Missense_L16S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,72:141:99:1542,0,1516:54:99:0.514 chr11 76867135 rs12420129 C T 937.46 PASS BaseQRankSum=-1.681;DP=97;Dels=0.00;FS=3.914;HRun=1;HaplotypeScore=6.2312;MQ=54;MQ0=0;MQRankSum=1.158;QD=9.66;ReadPosRankSum=0.323;SB=-597.00;TI=NM_001127179,NM_000260,NM_001127180;GI=MYO7A,MYO7A,MYO7A;FC=Synonymous_I156I,Synonymous_I156I,Synonymous_I156I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,43:97:99:967,0,1375:54:99:0.443 chr11 76868372 rs762667 T C 1009.50 PASS BaseQRankSum=0.372;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=0.929;QD=8.41;ReadPosRankSum=1.760;SB=-735.66;TI=NM_001127179,NM_000260,NM_001127180;GI=MYO7A,MYO7A,MYO7A;FC=Synonymous_G261G,Synonymous_G261G,Synonymous_G261G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,48:120:99:1039,0,1779:51:99:0.400 chr11 76895770 . GGGAGGCGGGGACACCAGGGCCT G 6003.13 PASS BaseQRankSum=-1.196;DP=131;FS=0.715;HRun=0;HaplotypeScore=92.9110;MQ=53;MQ0=0;MQRankSum=-5.167;QD=45.83;ReadPosRankSum=-1.887;SB=-2687.25;TI=NM_001127179,NM_000260,NM_001127180;GI=MYO7A,MYO7A,MYO7A;FC=Frameshift,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,40:131:99:6003,0,19477:53:99:0.308 chr11 76910766 rs7927472 C T 1045.96 PASS BaseQRankSum=-0.171;DP=134;Dels=0.00;FS=2.311;HRun=0;HaplotypeScore=4.5747;MQ=55;MQ0=0;MQRankSum=1.979;QD=7.81;ReadPosRankSum=-0.568;SB=-750.29;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Synonymous_S1585S,Synonymous_S1547S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,52:134:99:1076,0,2021:55:99:0.388 chr11 76912636 rs2276288 A T 856.93 PASS BaseQRankSum=-0.039;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.241;QD=9.96;ReadPosRankSum=-0.775;SB=-449.16;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Missense_S1666C,Missense_S1628C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,36:86:99:887,0,1216:53:99:0.419 chr11 76917220 rs2276293 A G 1810.00 PASS BaseQRankSum=0.520;DP=123;Dels=0.00;FS=0.694;HRun=1;HaplotypeScore=10.6194;MQ=55;MQ0=0;MQRankSum=2.402;QD=14.72;ReadPosRankSum=-0.421;SB=-1187.26;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Synonymous_K1905K,Synonymous_K1867K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,77:123:99:1840,0,1004:55:99:0.626 chr11 76919468 rs1320703 A T 1790.40 PASS BaseQRankSum=1.814;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9321;MQ=55;MQ0=0;MQRankSum=0.648;QD=10.85;ReadPosRankSum=0.567;SB=-1055.94;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,77:165:99:1820,0,2040:55:99:0.467 chr11 76919478 rs948962 C A 1854.91 PASS BaseQRankSum=0.480;DP=176;Dels=0.00;FS=0.556;HRun=0;HaplotypeScore=2.7997;MQ=55;MQ0=0;MQRankSum=0.276;QD=10.54;ReadPosRankSum=-0.036;SB=-1286.90;TI=NM_000260,NM_001127180;GI=MYO7A,MYO7A;FC=Missense_L1954I,Missense_L1916I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,83:176:99:1885,0,2169:55:99:0.472 chr11 77790653 rs534418 T C 2818.67 PASS DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3643;MQ=57;MQ0=0;QD=29.36;SB=-1405.21;TI=NM_004549;GI=NDUFC2;FC=Synonymous_L46L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,96:96:99:2852,214,0:57:99:1.000 chr11 77790655 rs8875 G C 2914.62 PASS DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5321;MQ=57;MQ0=0;QD=30.05;SB=-1511.54;TI=NM_004549;GI=NDUFC2;FC=Missense_L46V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:2948,220,0:57:99:1.000 chr11 77813997 rs35218171 CA C 65.53 R8 BaseQRankSum=-0.477;DP=29;FS=1.510;HRun=18;HaplotypeScore=129.0065;MQ=55;MQ0=0;MQRankSum=-0.176;QD=2.26;ReadPosRankSum=0.678;SB=-48.48;TI=NM_024079,NM_001007027;GI=ALG8,ALG8;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,8:29:99:105,0,178:55:66:0.348 chr11 77825320 rs665278 T C 908.36 PASS DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=31.32;SB=-537.17;TI=NM_024079,NM_001007027;GI=ALG8,ALG8;FC=Missense_N222S,Missense_N222S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:72.22:941,72,0:55:72:1.000 chr11 77930345 rs2450122 T C 664.88 PASS BaseQRankSum=1.484;DP=75;Dels=0.00;FS=4.579;HRun=1;HaplotypeScore=2.6548;MQ=52;MQ0=0;MQRankSum=1.451;QD=8.87;ReadPosRankSum=1.173;SB=-472.35;TI=NM_012296,NM_080491;GI=GAB2,GAB2;FC=Synonymous_S630S,Synonymous_S668S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,32:75:99:695,0,1073:52:99:0.427 chr11 77936166 rs1385600 A G 1432.77 PASS BaseQRankSum=-0.405;DP=138;Dels=0.00;FS=0.641;HRun=0;HaplotypeScore=5.4153;MQ=50;MQ0=0;MQRankSum=2.474;QD=10.38;ReadPosRankSum=1.753;SB=-1004.25;TI=NM_012296,NM_080491;GI=GAB2,GAB2;FC=Synonymous_V392V,Synonymous_V430V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,65:138:99:1463,0,1655:50:99:0.471 chr11 77937800 rs2248407 G A 238.54 PASS BaseQRankSum=-1.457;DP=23;Dels=0.00;FS=1.740;HRun=2;HaplotypeScore=2.7714;MQ=53;MQ0=0;MQRankSum=1.023;QD=10.37;ReadPosRankSum=-0.899;SB=-118.78;TI=NM_012296,NM_080491;GI=GAB2,GAB2;FC=Synonymous_F268F,Synonymous_F306F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,10:23:99:269,0,353:53:99:0.435 chr11 78128775 rs11237488 C T 340.14 PASS BaseQRankSum=1.609;DP=33;Dels=0.00;FS=5.884;HRun=0;HaplotypeScore=0.0000;MQ=48;MQ0=0;MQRankSum=-1.067;QD=10.31;ReadPosRankSum=-1.573;SB=-86.92;TI=NM_080491;GI=GAB2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,15:33:99:370,0,351:48:99:0.455 chr11 78277277 rs10751296 A G 2387.20 PASS BaseQRankSum=-0.388;DP=205;Dels=0.00;FS=1.087;HRun=1;HaplotypeScore=2.7880;MQ=54;MQ0=0;MQRankSum=2.648;QD=11.64;ReadPosRankSum=1.890;SB=-1487.78;TI=NR_027479,NM_024678;GI=NARS2,NARS2;FC=Silent,Synonymous_Y138Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,95:205:99:2417,0,2801:54:99:0.463 chr11 78279790 rs10501429 T G 507.20 PASS BaseQRankSum=1.777;DP=56;Dels=0.00;FS=2.602;HRun=0;HaplotypeScore=7.2578;MQ=54;MQ0=0;MQRankSum=0.677;QD=9.06;ReadPosRankSum=-1.032;SB=-145.64;TI=NR_027479,NM_024678;GI=NARS2,NARS2;FC=Silent,Missense_N87T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,21:56:99:537,0,873:54:99:0.375 chr11 78372536 rs2277277 G A 1815.88 PASS BaseQRankSum=3.836;DP=137;Dels=0.00;FS=1.396;HRun=1;HaplotypeScore=2.6548;MQ=51;MQ0=0;MQRankSum=0.948;QD=13.25;ReadPosRankSum=-0.995;SB=-1262.81;TI=NM_001098816;GI=ODZ4;FC=Synonymous_L2503L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,79:137:99:1846,0,1288:51:99:0.577 chr11 85366762 rs2196168 A G 963.10 PASS BaseQRankSum=0.423;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.034;QD=12.51;ReadPosRankSum=0.239;SB=-569.35;TI=NM_032273;GI=TMEM126A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,38:77:99:993,0,1079:55:99:0.494 chr11 85692181 rs76719109 A C 582.38 PASS BaseQRankSum=0.177;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-0.486;QD=9.87;ReadPosRankSum=-0.748;SB=-278.76;TI=NM_007166,NM_001008660;GI=PICALM,PICALM;FC=Synonymous_A590A,Synonymous_A540A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,24:59:99:612,0,984:56:99:0.407 chr11 85725937 rs592297 C T 2389.97 PASS DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=57;MQ0=0;QD=29.51;SB=-1187.80;TI=NM_007166,NM_001008660;GI=PICALM,PICALM;FC=Synonymous_Q174Q,Synonymous_Q174Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2423,178,0:57:99:1.000 chr11 86749027 rs61906171 G C 660.76 PASS BaseQRankSum=2.136;DP=76;Dels=0.00;FS=0.923;HRun=1;HaplotypeScore=3.4596;MQ=55;MQ0=0;MQRankSum=0.941;QD=8.69;ReadPosRankSum=0.855;SB=-351.37;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,31:76:99:691,0,1027:55:99:0.413 chr11 87013438 rs2276102 G A 1639.01 PASS BaseQRankSum=2.624;DP=138;Dels=0.00;FS=2.184;HRun=0;HaplotypeScore=2.7829;MQ=56;MQ0=0;MQRankSum=0.885;QD=11.88;ReadPosRankSum=-0.260;SB=-1016.38;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Missense_G196R,Missense_G218R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,68:138:99:1669,0,1624:56:99:0.496 chr11 87036784 rs10898669 T C 2981.32 PASS BaseQRankSum=-0.350;DP=196;Dels=0.00;FS=3.390;HRun=0;HaplotypeScore=31.8939;MQ=56;MQ0=0;MQRankSum=-0.291;QD=15.21;ReadPosRankSum=-0.032;SB=-1298.95;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,104:196:99:3011,0,2466:56:99:0.539 chr11 87037129 . GT G 313.92 R8 BaseQRankSum=-1.378;DP=176;FS=4.534;HRun=14;HaplotypeScore=801.0868;MQ=49;MQ0=0;MQRankSum=-1.293;QD=1.78;ReadPosRankSum=-0.610;SB=-138.05;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,32:176:99:353,0,2247:49:99:0.227 chr11 87037202 rs12276145 T C 2237.99 PASS BaseQRankSum=1.700;DP=186;Dels=0.00;FS=3.768;HRun=0;HaplotypeScore=42.4289;MQ=50;MQ0=0;MQRankSum=-0.085;QD=12.03;ReadPosRankSum=1.638;SB=-777.51;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,85:186:99:2268,0,2523:50:99:0.464 chr11 87037565 rs7926724 T C 3478.26 PASS BaseQRankSum=0.906;DP=243;Dels=0.00;FS=0.486;HRun=1;HaplotypeScore=7.2533;MQ=55;MQ0=0;MQRankSum=1.427;QD=14.31;ReadPosRankSum=0.393;SB=-1711.47;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,128:243:99:3478,0,2999:55:99:0.529 chr11 87037680 rs12282551 A G 1950.43 PASS BaseQRankSum=3.458;DP=162;Dels=0.00;FS=8.260;HRun=0;HaplotypeScore=14.2636;MQ=55;MQ0=0;MQRankSum=2.426;QD=12.04;ReadPosRankSum=1.833;SB=-1115.05;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,71:162:99:1980,0,2409:55:99:0.441 chr11 87037743 rs10898670 G A 1325.20 PASS BaseQRankSum=0.457;DP=124;Dels=0.00;FS=0.678;HRun=1;HaplotypeScore=10.2827;MQ=56;MQ0=0;MQRankSum=2.971;QD=10.69;ReadPosRankSum=-1.716;SB=-685.90;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,51:124:99:1355,0,1908:56:99:0.411 chr11 87037953 . CTT C 744.27 R8 BaseQRankSum=-1.704;DP=76;FS=14.900;HRun=19;HaplotypeScore=532.7074;MQ=49;MQ0=0;MQRankSum=-0.722;QD=9.79;ReadPosRankSum=0.007;SB=-46.08;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,19:76:99:783,0,363:49:99:0.396 chr11 87039402 rs4480563 G A 3455.01 PASS BaseQRankSum=1.455;DP=233;Dels=0.00;FS=1.641;HRun=0;HaplotypeScore=12.8315;MQ=58;MQ0=0;MQRankSum=0.170;QD=14.83;ReadPosRankSum=0.821;SB=-1795.97;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,128:233:99:3455,0,2714:58:99:0.552 chr11 87039467 rs4644661 T G 3984.86 PASS BaseQRankSum=2.360;DP=273;Dels=0.00;FS=1.078;HRun=0;HaplotypeScore=12.8499;MQ=55;MQ0=0;MQRankSum=2.348;QD=14.60;ReadPosRankSum=-0.766;SB=-1261.44;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:132,141:273:99:3985,0,3758:55:99:0.516 chr11 87039532 rs4318005 C T 3269.62 PASS BaseQRankSum=0.765;DP=226;Dels=0.00;FS=0.503;HRun=5;HaplotypeScore=6.4917;MQ=53;MQ0=0;MQRankSum=1.390;QD=14.47;ReadPosRankSum=2.958;SB=-1453.60;TI=NM_001168724,NM_022918,NR_033149;GI=TMEM135,TMEM135,TMEM135;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,118:226:99:3270,0,2839:53:99:0.522 chr11 88045583 rs217086 A G 2386.34 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=26.22;SB=-1717.08;TI=NM_001814;GI=CTSC;FC=Missense_I153T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2419,172,0:52:99:1.000 chr11 88242024 rs2941563 T G 275.83 LowGQ;LowDP DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=27.58;SB=-154.51;TI=NM_001143831,NM_000842;GI=GRM5,GRM5;FC=Synonymous_G1125G,Synonymous_G1093G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,10:10:24.07:309,24,0:56:24:1.000 chr11 88242434 . C A 278.72 PASS BaseQRankSum=0.242;DP=30;Dels=0.00;FS=1.583;HRun=0;HaplotypeScore=4.6204;MQ=56;MQ0=0;MQRankSum=1.826;QD=9.29;ReadPosRankSum=0.726;SB=-114.42;TI=NM_001143831,NM_000842;GI=GRM5,GRM5;FC=Missense_G989W,Missense_G957W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,10:30:99:309,0,535:56:99:0.333 chr11 88911696 rs1042602 C A 1520.82 PASS BaseQRankSum=1.068;DP=109;Dels=0.00;FS=3.559;HRun=0;HaplotypeScore=5.4324;MQ=59;MQ0=0;MQRankSum=-0.463;QD=13.95;ReadPosRankSum=-1.740;SB=-958.97;TI=NM_000372;GI=TYR;FC=Missense_S192Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,59:109:99:1551,0,1201:59:99:0.546 chr11 92714764 . C T 2843.58 PASS BaseQRankSum=2.404;DP=204;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=22.2386;MQ=56;MQ0=0;MQRankSum=1.289;QD=13.94;ReadPosRankSum=-1.316;SB=-1890.43;TI=NM_005959;GI=MTNR1B;FC=Synonymous_I125I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,114:204:99:2874,0,2333:56:99:0.562 chr11 93517874 rs63618760 C G 1043.36 PASS BaseQRankSum=-0.037;DP=97;Dels=0.00;FS=0.779;HRun=3;HaplotypeScore=4.4594;MQ=56;MQ0=0;MQRankSum=1.886;QD=10.76;ReadPosRankSum=0.965;SB=-656.91;TI=NM_004268;GI=MED17;FC=Synonymous_G65G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,43:97:99:1073,0,1246:56:99:0.448 chr11 93517886 rs2848477 G C 1023.13 PASS BaseQRankSum=-1.177;DP=90;Dels=0.00;FS=0.803;HRun=0;HaplotypeScore=5.2041;MQ=56;MQ0=0;MQRankSum=1.047;QD=11.37;ReadPosRankSum=0.821;SB=-558.84;TI=NM_004268;GI=MED17;FC=Missense_E69D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,42:90:99:1053,0,1138:56:99:0.467 chr11 93529655 rs34057693 G A 1567.97 PASS BaseQRankSum=1.256;DP=141;Dels=0.00;FS=6.263;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=-1.042;QD=11.12;ReadPosRankSum=-2.185;SB=-1089.83;TI=NM_004268;GI=MED17;FC=Synonymous_P364P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,68:141:99:1598,0,1763:55:99:0.482 chr11 93534990 rs655699 G A 1744.27 PASS BaseQRankSum=2.215;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9409;MQ=56;MQ0=0;MQRankSum=-1.320;QD=12.03;ReadPosRankSum=0.228;SB=-1140.27;TI=NM_004268;GI=MED17;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,69:145:99:1774,0,2050:56:99:0.476 chr11 100998623 rs1379130 G A 5974.58 PASS BaseQRankSum=0.951;DP=195;Dels=0.00;FS=3.902;HRun=0;HaplotypeScore=16.4644;MQ=56;MQ0=0;MQRankSum=2.399;QD=30.64;ReadPosRankSum=1.606;SB=-3047.55;TI=NM_000926;GI=PGR;FC=Synonymous_G393G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,193:195:99:5975,409,0:56:99:0.990 chr11 101323770 rs12805398 C T 1800.96 PASS BaseQRankSum=-0.636;DP=160;Dels=0.00;FS=8.320;HRun=2;HaplotypeScore=15.5194;MQ=54;MQ0=0;MQRankSum=0.587;QD=11.26;ReadPosRankSum=2.153;SB=-983.22;TI=NM_004621;GI=TRPC6;FC=Synonymous_Q904Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,71:160:99:1831,0,2351:54:99:0.449 chr11 101347093 rs12366144 A G 2182.44 PASS BaseQRankSum=3.707;DP=191;Dels=0.00;FS=1.936;HRun=0;HaplotypeScore=6.5566;MQ=56;MQ0=0;MQRankSum=0.647;QD=11.43;ReadPosRankSum=0.825;SB=-1015.98;TI=NM_004621;GI=TRPC6;FC=Synonymous_N561N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,85:191:99:2212,0,2895:56:99:0.447 chr11 101359750 rs36111323 G A 1325.55 PASS BaseQRankSum=2.775;DP=127;Dels=0.00;FS=7.224;HRun=0;HaplotypeScore=2.7880;MQ=57;MQ0=0;MQRankSum=0.873;QD=10.44;ReadPosRankSum=-0.521;SB=-775.96;TI=NM_004621;GI=TRPC6;FC=Missense_A404V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,53:127:99:1356,0,1981:57:99:0.417 chr11 101454192 rs3802829 G A 697.82 PASS BaseQRankSum=0.518;DP=74;Dels=0.00;FS=2.203;HRun=1;HaplotypeScore=5.3899;MQ=56;MQ0=0;MQRankSum=1.644;QD=9.43;ReadPosRankSum=-0.206;SB=-202.70;TI=NM_004621;GI=TRPC6;FC=Missense_P15S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,28:74:99:728,0,1122:56:99:0.378 chr11 101771248 rs3858418 G A 3921.75 PASS DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8932;MQ=53;MQ0=0;QD=28.21;SB=-2317.64;TI=NM_178127;GI=ANGPTL5;FC=Missense_R192W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,139:139:99:3922,280,0:53:99:1.000 chr11 101832478 rs7926728 G T 6058.04 PASS BaseQRankSum=1.717;DP=229;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.3501;MQ=54;MQ0=0;MQRankSum=-0.492;QD=26.45;ReadPosRankSum=0.900;SB=-4467.10;TI=NM_020802;GI=KIAA1377;FC=Missense_G238C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,228:229:99:6058,427,0:54:99:0.996 chr11 101833644 rs7109233 C T 3763.33 PASS BaseQRankSum=1.701;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59;MQ0=0;MQRankSum=1.701;QD=34.21;ReadPosRankSum=1.071;SB=-1919.21;TI=NM_020802;GI=KIAA1377;FC=Synonymous_T626T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,109:110:99:3763,280,0:59:99:0.991 chr11 101857758 rs6590942 G A 3299.87 PASS DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=57;MQ0=0;QD=31.13;SB=-1654.92;TI=NM_020802;GI=KIAA1377;FC=Missense_S1077N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:3300,238,0:57:99:1.000 chr11 102477377 rs1784424 G T 1455.63 PASS BaseQRankSum=0.321;DP=55;Dels=0.02;FS=0.000;HRun=1;HaplotypeScore=10.2119;MQ=55;MQ0=0;MQRankSum=0.192;QD=26.47;ReadPosRankSum=0.192;SB=-953.83;TI=NM_004771;GI=MMP20;FC=Missense_T281N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,53:54:76.70:1489,77,0:55:77:0.981 chr11 102477395 rs1784423 A G 1271.98 PASS BaseQRankSum=-0.500;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3811;MQ=54;MQ0=0;MQRankSum=-1.193;QD=28.27;ReadPosRankSum=-0.577;SB=-689.99;TI=NM_004771;GI=MMP20;FC=Missense_V275A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,44:45:64.68:1305,65,0:54:65:0.978 chr11 102495998 rs2245803 T G 1968.90 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.76;SB=-748.92;TI=NM_004771;GI=MMP20;FC=Missense_K18T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:2002,144,0:57:99:1.000 chr11 102587062 rs3740938 G A 1355.28 PASS DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2831;MQ=50;MQ0=0;QD=25.57;SB=-905.32;TI=NM_002424;GI=MMP8;FC=Synonymous_L291L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1388,105,0:50:99:1.000 chr11 102650246 rs17860949 G A 3023.66 PASS BaseQRankSum=1.189;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8871;MQ=53;MQ0=0;MQRankSum=0.306;QD=29.64;ReadPosRankSum=-0.747;SB=-1561.66;TI=NM_002425;GI=MMP10;FC=Synonymous_H112H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,101:102:99:3057,189,0:53:99:0.990 chr11 102663476 rs17884110 A AG 935.07 PASS BaseQRankSum=3.404;DP=41;FS=0.000;HRun=1;HaplotypeScore=132.8080;MQ=59;MQ0=0;MQRankSum=-1.303;QD=22.81;ReadPosRankSum=2.031;SB=-395.59;TI=NM_002421,NM_001145938;GI=MMP1,MMP1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,27:41:99:974,0,423:59:99:0.659 chr11 102666316 rs470558 T C 4684.00 PASS BaseQRankSum=1.613;DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6213;MQ=54;MQ0=0;MQRankSum=-1.554;QD=26.77;ReadPosRankSum=1.495;SB=-3272.34;TI=NM_002421,NM_001145938;GI=MMP1,MMP1;FC=Synonymous_A216A,Synonymous_A150A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,174:175:99:4684,334,0:54:99:0.994 chr11 102668022 rs10488 C T 2718.64 PASS BaseQRankSum=1.244;DP=189;Dels=0.00;FS=5.256;HRun=2;HaplotypeScore=11.1072;MQ=55;MQ0=0;MQRankSum=0.087;QD=14.38;ReadPosRankSum=1.375;SB=-1603.07;TI=NM_002421,NM_001145938;GI=MMP1,MMP1;FC=Synonymous_G105G,Synonymous_G39G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,107:189:99:2749,0,2270:55:99:0.566 chr11 102709425 rs520540 A G 2591.90 PASS BaseQRankSum=0.428;DP=93;Dels=0.00;FS=3.256;HRun=1;HaplotypeScore=4.6544;MQ=56;MQ0=0;MQRankSum=0.689;QD=27.87;ReadPosRankSum=-0.577;SB=-1609.03;TI=NM_002422;GI=MMP3;FC=Synonymous_A362A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,92:93:99:2625,158,0:56:99:0.989 chr11 102713465 rs602128 A G 4086.79 PASS DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1048;MQ=54;MQ0=0;QD=31.93;SB=-2062.73;TI=NM_002422;GI=MMP3;FC=Synonymous_D96D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:128:99:4087,304,0:54:99:1.000 chr11 102713620 rs679620 T C 2995.66 PASS DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=55;MQ0=0;QD=28.80;SB=-1625.98;TI=NM_002422;GI=MMP3;FC=Missense_K45E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:104:99:3029,217,0:55:99:1.000 chr11 102738793 rs5794199 G GT 2167.39 PASS DP=58;FS=0.000;HRun=1;HaplotypeScore=214.7294;MQ=60;MQ0=0;QD=37.37;SB=-603.29;TI=NM_002426;GI=MMP12;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:58:99:2209,171,0:60:99:1.000 chr11 102738795 rs68192523 G T 1817.11 PASS DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60;MQ0=0;QD=33.65;SB=-567.77;TI=NM_002426;GI=MMP12;FC=Synonymous_T210T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1850,135,0:60:99:1.000 chr11 102822733 rs3819089 C T 694.35 PASS BaseQRankSum=2.062;DP=55;Dels=0.00;FS=3.786;HRun=0;HaplotypeScore=0.9998;MQ=54;MQ0=0;MQRankSum=-0.261;QD=12.62;ReadPosRankSum=-1.844;SB=-331.19;TI=NM_002427;GI=MMP13;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,28:55:99:724,0,675:54:99:0.509 chr11 102988504 rs12146610 A T 591.52 PASS BaseQRankSum=-0.328;DP=81;Dels=0.00;FS=4.421;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=-0.073;QD=7.30;ReadPosRankSum=-0.396;SB=-413.90;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_Q304L,Missense_Q304L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,30:81:99:622,0,1314:52:99:0.370 chr11 103029516 rs688906 A G 1097.61 PASS BaseQRankSum=-0.522;DP=94;Dels=0.00;FS=8.345;HRun=0;HaplotypeScore=2.7041;MQ=55;MQ0=0;MQRankSum=0.462;QD=11.68;ReadPosRankSum=-0.522;SB=-722.91;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_K1413R,Missense_K1413R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,45:94:99:1128,0,1446:55:99:0.479 chr11 103036743 rs72989738 C G 2710.30 PASS BaseQRankSum=2.113;DP=209;Dels=0.00;FS=2.373;HRun=0;HaplotypeScore=4.4430;MQ=54;MQ0=0;MQRankSum=2.291;QD=12.97;ReadPosRankSum=1.651;SB=-1457.40;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_N1576K,Missense_N1576K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,103:209:99:2740,0,2730:54:99:0.493 chr11 103047007 rs585692 C A 3165.48 PASS DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8914;MQ=56;MQ0=0;QD=31.34;SB=-1520.56;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_T1906T,Synonymous_T1906T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:3198,235,0:56:99:1.000 chr11 103057048 rs658804 A G 3651.15 PASS BaseQRankSum=1.241;DP=283;Dels=0.00;FS=0.450;HRun=1;HaplotypeScore=10.3793;MQ=54;MQ0=0;MQRankSum=2.950;QD=12.90;ReadPosRankSum=-0.604;SB=-1914.40;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_R2237R,Synonymous_R2237R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:135,148:283:99:3651,0,3330:54:99:0.523 chr11 103058126 rs586592 C T 951.88 PASS BaseQRankSum=0.353;DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9993;MQ=49;MQ0=0;MQRankSum=2.969;QD=10.94;ReadPosRankSum=1.482;SB=-678.79;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_H2317H,Synonymous_H2317H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,42:87:99:982,0,991:49:99:0.483 chr11 103082590 rs589623 G A 2685.58 PASS DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49;MQ0=0;QD=28.88;SB=-1461.17;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_R2871Q,Missense_R2871Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:93:99:2719,196,0:49:99:1.000 chr11 103229027 rs2566913 T C 4317.31 PASS DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.40;SB=-2824.54;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_D4039D,Synonymous_D4032D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,152:152:99:4317,310,0:53:99:1.000 chr11 103325908 rs11225812 C T 1043.99 PASS BaseQRankSum=0.287;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6381;MQ=55;MQ0=0;MQRankSum=1.994;QD=12.73;ReadPosRankSum=1.289;SB=-369.64;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,41:82:99:1074,0,1084:55:99:0.500 chr11 104758035 rs484438 G A 3062.35 PASS DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=30.02;SB=-1803.26;TI=NM_001191016,NR_034061,NR_034064,NR_034070,NR_034067,NR_034065,NR_034068,NR_034066,NR_034071,NR_034063;GI=CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:102:99:3095,223,0:54:99:1.000 chr11 104761100 rs513131 T C 6401.16 PASS DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.64;SB=-3002.30;TI=NM_001191016,NR_034061,NR_034064,NR_034070,NR_034067,NR_034065,NR_034068,NR_034066,NR_034071,NR_034063;GI=CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12;FC=Missense_H273R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,216:216:99:6401,464,0:55:99:1.000 chr11 104761206 rs647039 C T 8701.32 PASS DP=319;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6647;MQ=54;MQ0=0;QD=27.28;SB=-4906.03;TI=NM_001191016,NR_034061,NR_034064,NR_034070,NR_034067,NR_034065,NR_034068,NR_034066,NR_034071,NR_034063;GI=CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12;FC=Missense_G238S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,319:319:99:8701,623,0:54:99:1.000 chr11 104763117 rs497116 G A 6381.94 PASS DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.7207;MQ=56;MQ0=0;QD=29.41;SB=-3871.18;TI=NM_001191016,NR_034061,NR_034064,NR_034070,NR_034067,NR_034065,NR_034068,NR_034066,NR_034071,NR_034063;GI=CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12;FC=Nonsense_R125X,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,217:217:99:6382,461,0:56:99:1.000 chr11 104768000 rs693001 G A 2481.00 PASS BaseQRankSum=1.608;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=50;MQ0=0;MQRankSum=-0.124;QD=29.54;ReadPosRankSum=-0.660;SB=-1222.68;TI=NM_001191016,NR_034061,NR_034064,NR_034070,NR_034067,NR_034065,NR_034068,NR_034066,NR_034071,NR_034063;GI=CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12;FC=Missense_T68I,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,83:84:99:2514,187,0:50:99:0.988 chr11 104768098 rs555367 T C 3515.34 PASS DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=53;MQ0=0;QD=29.05;SB=-2375.14;TI=NM_001191016,NR_034061,NR_034064,NR_034070,NR_034067,NR_034065,NR_034068,NR_034066,NR_034071,NR_034063;GI=CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12,CASP12;FC=Synonymous_V35V,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3515,256,0:53:99:1.000 chr11 104869708 rs523104 G C 2621.92 PASS BaseQRankSum=1.430;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.326;QD=30.14;ReadPosRankSum=0.637;SB=-1399.95;TI=NM_004347,NM_001136110,NR_024239,NM_001136109,NM_001136112,NR_036562;GI=CASP5,CASP5,CASP5,CASP5,CASP5,CASP5;FC=Missense_L334V,Missense_L192V,Silent,Missense_L276V,Missense_L347V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,85:87:99:2655,154,0:56:99:0.977 chr11 104877927 rs507879 T C 1528.39 PASS BaseQRankSum=2.433;DP=116;Dels=0.00;FS=3.614;HRun=0;HaplotypeScore=10.1416;MQ=55;MQ0=0;MQRankSum=1.643;QD=13.18;ReadPosRankSum=-1.470;SB=-685.39;TI=NM_004347,NM_001136110,NR_024239,NM_001136109,NM_001136112,NR_036562;GI=CASP5,CASP5,CASP5,CASP5,CASP5,CASP5;FC=Missense_T106A,Silent,Silent,Missense_T48A,Missense_T119A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,55:116:99:1558,0,1592:55:99:0.478 chr11 104900385 rs501192 C T 1074.43 PASS BaseQRankSum=1.676;DP=105;Dels=0.00;FS=0.836;HRun=0;HaplotypeScore=5.4428;MQ=56;MQ0=0;MQRankSum=0.765;QD=10.23;ReadPosRankSum=-1.769;SB=-422.01;TI=NM_033295,NM_033293,NM_033294,NM_001223,NM_033292;GI=CASP1,CASP1,CASP1,CASP1,CASP1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,41:105:99:1104,0,1660:56:99:0.394 chr11 104900488 rs580253 G A 1692.36 PASS BaseQRankSum=0.742;DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2586;MQ=56;MQ0=0;MQRankSum=-0.165;QD=10.26;ReadPosRankSum=2.655;SB=-1166.88;TI=NM_033295,NM_033293,NM_033294,NM_001223,NM_033292;GI=CASP1,CASP1,CASP1,CASP1,CASP1;FC=Silent,Synonymous_L163L,Synonymous_L163L,Synonymous_L235L,Synonymous_L256L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,74:165:99:1722,0,2133:56:99:0.454 chr11 104905047 rs539595;rs55646419 G A 1878.52 PASS BaseQRankSum=-0.924;DP=164;Dels=0.00;FS=7.354;HRun=0;HaplotypeScore=3.8935;MQ=51;MQ0=15;MQRankSum=0.879;QD=11.45;ReadPosRankSum=0.700;SB=-899.68;TI=NM_033295,NM_033293,NM_033294,NM_001223,NM_033292;GI=CASP1,CASP1,CASP1,CASP1,CASP1;FC=Silent,Silent,Silent,Synonymous_T54T,Synonymous_T54T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,77:164:99:1909,0,1710:51:99:0.470 chr11 104905208 rs2509650 A G 27.39 LowVariantFreq;SB BaseQRankSum=-0.179;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.1951;MQ=53;MQ0=4;MQRankSum=-5.902;QD=0.17;ReadPosRankSum=-0.526;SB=-1.60;TI=NM_033295,NM_033293,NM_033294,NM_001223,NM_033292;GI=CASP1,CASP1,CASP1,CASP1,CASP1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:139,20:159:57.38:57,0,3673:53:27:0.126 chr11 107904646 rs10890800 C T 265.10 PASS BaseQRankSum=-0.119;DP=32;Dels=0.00;FS=1.585;HRun=0;HaplotypeScore=1.8835;MQ=56;MQ0=0;MQRankSum=-0.952;QD=8.28;ReadPosRankSum=-1.984;SB=-83.68;TI=NM_003478;GI=CUL5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,11:32:99:295,0,500:56:99:0.344 chr11 107917087 rs7117111 A G 932.25 PASS BaseQRankSum=1.013;DP=76;Dels=0.00;FS=1.894;HRun=1;HaplotypeScore=4.6817;MQ=52;MQ0=0;MQRankSum=-0.483;QD=12.27;ReadPosRankSum=0.244;SB=-602.00;TI=NM_003478;GI=CUL5;FC=Synonymous_Q75Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,38:76:99:962,0,938:52:99:0.500 chr11 108009660 rs35188041 C A 971.25 PASS BaseQRankSum=2.385;DP=95;Dels=0.00;FS=6.065;HRun=2;HaplotypeScore=3.6756;MQ=55;MQ0=0;MQRankSum=1.400;QD=10.22;ReadPosRankSum=2.507;SB=-238.29;TI=NM_000019;GI=ACAT1;FC=Synonymous_S157S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,37:95:99:1001,0,1401:55:99:0.389 chr11 108044091 rs4144901 T A 2723.06 PASS BaseQRankSum=2.305;DP=201;Dels=0.00;FS=4.033;HRun=2;HaplotypeScore=11.0991;MQ=58;MQ0=0;MQRankSum=0.404;QD=13.55;ReadPosRankSum=0.724;SB=-1415.41;TI=NM_002519;GI=NPAT;FC=Missense_L540F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,99:201:99:2753,0,2916:58:99:0.493 chr11 108170506 rs1800059 A C 14.92 LowGQX;LowGQ;LowDP DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37;MQ0=0;QD=7.46;SB=-40.01;TI=NM_000051;GI=ATM;FC=Missense_S1691R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,2:2:3.01:45,3,0:37:3:1.000 chr11 108183167 rs659243 A G 2650.09 PASS DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=25.73;SB=-1821.40;TI=NM_000051;GI=ATM;FC=Missense_N1983S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,103:103:99:2683,187,0:57:99:1.000 chr11 110128925 . CA C 35.80 R8 BaseQRankSum=-1.505;DP=42;FS=0.000;HRun=15;HaplotypeScore=129.3365;MQ=50;MQ0=0;MQRankSum=0.051;QD=0.85;ReadPosRankSum=-0.355;SB=-25.21;TI=NM_002906;GI=RDX;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,8:42:74.83:75,0,521:50:36:0.229 chr11 111742145 rs10708475 CG C 1890.19 PASS DP=43;FS=0.000;HRun=4;HaplotypeScore=27.9616;MQ=56;MQ0=0;QD=43.96;SB=-581.32;TI=NM_024740,NM_001077690;GI=ALG9,ALG9;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,43:43:99:1932,129,0:56:99:1.000 chr11 111781047 rs11603779 A C 820.41 PASS BaseQRankSum=2.432;DP=90;Dels=0.00;FS=1.776;HRun=1;HaplotypeScore=2.7776;MQ=52;MQ0=0;MQRankSum=1.360;QD=9.12;ReadPosRankSum=0.621;SB=-567.27;TI=NM_001885;GI=CRYAB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,40:90:99:850,0,1144:52:99:0.444 chr11 111897028 . G GT 69.88 R8;SB BaseQRankSum=-1.386;DP=32;FS=1.938;HRun=17;HaplotypeScore=208.3061;MQ=41;MQ0=0;MQRankSum=-0.506;QD=2.18;ReadPosRankSum=0.154;SB=-4.50;TI=NM_001931;GI=DLAT;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,9:32:99:109,0,289:41:70:0.321 chr11 111958585 . G A 1223.43 PASS BaseQRankSum=0.709;DP=150;Dels=0.00;FS=2.119;HRun=0;HaplotypeScore=7.2581;MQ=50;MQ0=0;MQRankSum=-0.275;QD=8.16;ReadPosRankSum=-0.035;SB=-787.50;TI=NM_003002;GI=SDHD;FC=Synonymous_L19L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,57:150:99:1253,0,2253:50:99:0.380 chr11 111963860 rs592626 A G 231.62 LowGQ;LowDP DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=44;MQ0=0;QD=21.06;SB=-196.26;TI=NM_003002;GI=SDHD;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,11:11:18.06:264,18,0:44:18:1.000 chr11 112014328 rs5744290 G A 1287.12 PASS BaseQRankSum=-0.871;DP=98;Dels=0.00;FS=0.890;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=1.546;QD=13.13;ReadPosRankSum=-0.707;SB=-415.97;TI=NM_001562;GI=IL18;FC=Synonymous_N191N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,48:98:99:1317,0,1345:57:99:0.490 chr11 112020916 rs549908 T G 1150.37 PASS BaseQRankSum=-1.219;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6818;MQ=56;MQ0=0;MQRankSum=-0.015;QD=14.56;ReadPosRankSum=-1.999;SB=-714.00;TI=NM_001562;GI=IL18;FC=Synonymous_S35S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,44:79:99:1180,0,900:56:99:0.557 chr11 112832339 rs11284059 GC G 2131.05 PASS BaseQRankSum=-1.667;DP=56;FS=0.000;HRun=2;HaplotypeScore=564.4309;MQ=32;MQ0=0;MQRankSum=1.209;QD=38.05;ReadPosRankSum=0.229;SB=-931.90;TI=NM_001076682,NM_181351,NM_000615;GI=NCAM1,NCAM1,NCAM1;FC=Frameshift,Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:6,50:56:99:2173,142,0:32:99:0.893 chr11 112832353 rs7105734 T C 1944.63 PASS BaseQRankSum=1.474;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=26.0837;MQ=36;MQ0=0;MQRankSum=1.577;QD=28.60;ReadPosRankSum=-1.681;SB=-962.02;TI=NM_001076682,NM_181351,NM_000615;GI=NCAM1,NCAM1,NCAM1;FC=Missense_F7S,Missense_F7S,Missense_F7S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,66:68:99:1978,174,0:36:99:0.985 chr11 112832358 rs6589347 T C 2320.34 PASS BaseQRankSum=2.296;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=29.8537;MQ=39;MQ0=0;MQRankSum=2.142;QD=28.65;ReadPosRankSum=1.680;SB=-1236.39;TI=NM_001076682,NM_181351,NM_000615;GI=NCAM1,NCAM1,NCAM1;FC=Synonymous_L9L,Synonymous_L9L,Synonymous_L9L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,78:81:99:2353,205,0:39:99:0.975 chr11 112832391 . AT A 333.94 R8 BaseQRankSum=-0.872;DP=93;FS=2.881;HRun=14;HaplotypeScore=789.9828;MQ=40;MQ0=0;MQRankSum=-0.707;QD=3.59;ReadPosRankSum=-0.416;SB=-153.82;TI=NM_001076682,NM_181351,NM_000615;GI=NCAM1,NCAM1,NCAM1;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,19:93:99:373,0,1033:40:99:0.250 chr11 113085244 rs686050 C G 735.89 PASS BaseQRankSum=0.021;DP=63;Dels=0.00;FS=1.059;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=1.072;QD=11.68;ReadPosRankSum=1.141;SB=-295.36;TI=NM_001076682,NM_181351,NM_000615;GI=NCAM1,NCAM1,NCAM1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,28:63:99:766,0,971:58:99:0.444 chr11 113103996 rs584427 T G 708.49 PASS BaseQRankSum=-1.000;DP=60;Dels=0.00;FS=2.278;HRun=2;HaplotypeScore=4.5630;MQ=56;MQ0=0;MQRankSum=0.570;QD=11.81;ReadPosRankSum=-0.170;SB=-441.59;TI=NM_001076682,NM_181351,NM_000615;GI=NCAM1,NCAM1,NCAM1;FC=Missense_W541G,Missense_W551G,Missense_W541G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,32:60:99:738,0,750:56:99:0.533 chr11 113111501 rs2303377 T C 2960.81 PASS DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=51;MQ0=0;QD=24.88;SB=-2230.70;TI=NM_001076682,NM_181351,NM_000615;GI=NCAM1,NCAM1,NCAM1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,119:119:99:2994,211,0:51:99:1.000 chr11 113264272 rs17115439 T C 2169.42 PASS BaseQRankSum=1.975;DP=199;Dels=0.00;FS=0.532;HRun=1;HaplotypeScore=7.4698;MQ=54;MQ0=0;MQRankSum=1.832;QD=10.90;ReadPosRankSum=-0.603;SB=-1319.40;TI=NM_178510;GI=ANKK1;FC=Synonymous_S85S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,89:199:99:2199,0,2641:54:99:0.449 chr11 113264470 rs4938013 A C 1584.71 PASS BaseQRankSum=2.330;DP=117;Dels=0.00;FS=1.655;HRun=1;HaplotypeScore=8.1359;MQ=54;MQ0=0;MQRankSum=2.248;QD=13.54;ReadPosRankSum=2.148;SB=-500.50;TI=NM_178510;GI=ANKK1;FC=Synonymous_I151I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,57:117:99:1615,0,1675:54:99:0.491 chr11 113268059 rs11604671 G A 1637.41 PASS BaseQRankSum=0.048;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2310;MQ=55;MQ0=0;MQRankSum=-0.819;QD=9.86;ReadPosRankSum=0.257;SB=-569.16;TI=NM_178510;GI=ANKK1;FC=Missense_G318R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,68:166:99:1667,0,2606:55:99:0.412 chr11 113270015 rs4938016 G C 2027.54 PASS BaseQRankSum=-0.834;DP=132;Dels=0.00;FS=0.649;HRun=1;HaplotypeScore=15.9605;MQ=57;MQ0=0;MQRankSum=-0.885;QD=15.36;ReadPosRankSum=-0.104;SB=-1015.95;TI=NM_178510;GI=ANKK1;FC=Missense_G442R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,71:132:99:2058,0,1662:57:99:0.542 chr11 113270160 rs2734849 A G 2906.52 PASS BaseQRankSum=0.120;DP=243;Dels=0.00;FS=2.192;HRun=0;HaplotypeScore=15.0920;MQ=56;MQ0=0;MQRankSum=1.506;QD=11.96;ReadPosRankSum=-1.475;SB=-1680.97;TI=NM_178510;GI=ANKK1;FC=Missense_H490R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:127,116:243:99:2937,0,3463:56:99:0.477 chr11 113270374 rs2734848 C T 2105.79 PASS BaseQRankSum=0.054;DP=140;Dels=0.00;FS=0.639;HRun=0;HaplotypeScore=9.2672;MQ=56;MQ0=0;MQRankSum=2.262;QD=15.04;ReadPosRankSum=-0.423;SB=-1149.06;TI=NM_178510;GI=ANKK1;FC=Synonymous_Y561Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,77:140:99:2136,0,1644:56:99:0.550 chr11 113283459 rs6277 G A 1510.42 PASS BaseQRankSum=0.653;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49;MQ0=0;MQRankSum=-1.006;QD=12.59;ReadPosRankSum=-0.569;SB=-817.09;TI=NM_016574,NM_000795;GI=DRD2,DRD2;FC=Synonymous_P290P,Synonymous_P319P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,65:120:99:1540,0,1259:49:99:0.542 chr11 113283477 rs6275 A G 998.21 PASS BaseQRankSum=0.563;DP=76;Dels=0.00;FS=0.923;HRun=0;HaplotypeScore=2.6548;MQ=52;MQ0=0;MQRankSum=0.948;QD=13.13;ReadPosRankSum=-0.490;SB=-428.36;TI=NM_016574,NM_000795;GI=DRD2,DRD2;FC=Synonymous_H284H,Synonymous_H313H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,41:76:99:1028,0,881:52:99:0.539 chr11 113846006 rs1062613 T C 2226.04 PASS DP=81;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.48;SB=-1343.62;TI=NM_000869,NM_213621;GI=HTR3A,HTR3A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2259,163,0:53:99:1.000 chr11 113848273 rs1985242 A T 3804.58 PASS DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=27.77;SB=-2417.34;TI=NM_000869,NM_213621,NM_001161772;GI=HTR3A,HTR3A,HTR3A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:3805,274,0:54:99:1.000 chr11 113860743 rs1150219 G C 9474.01 PASS DP=294;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4651;MQ=56;MQ0=0;QD=32.22;SB=-5165.07;TI=NM_000869,NM_213621,NM_001161772;GI=HTR3A,HTR3A,HTR3A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,294:294:99:9474,698,0:56:99:1.000 chr11 116662579 rs651821 C T 1298.51 PASS BaseQRankSum=0.997;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=54;MQ0=0;MQRankSum=0.773;QD=12.37;ReadPosRankSum=-0.497;SB=-780.51;TI=NM_001166598,NM_052968;GI=APOA5,APOA5;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,54:105:99:1329,0,1313:54:99:0.514 chr11 116692334 rs5104 C T 3608.45 PASS DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=58;MQ0=0;QD=38.39;SB=-1225.72;TI=NM_000482;GI=APOA4;FC=Missense_S147N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:3608,277,0:58:99:1.000 chr11 116693464 rs5092 C T 3128.28 PASS DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8907;MQ=49;MQ0=0;QD=26.07;SB=-2135.64;TI=NM_000482;GI=APOA4;FC=Synonymous_T29T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:120:99:3161,226,0:49:99:1.000 chr11 116701535 rs4520 T C 6788.07 PASS BaseQRankSum=1.310;DP=240;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.5228;MQ=52;MQ0=0;MQRankSum=1.674;QD=28.28;ReadPosRankSum=0.320;SB=-3638.12;TI=NM_000040;GI=APOC3;FC=Synonymous_G34G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,237:240:99:6788,466,0:52:99:0.996 chr11 117160347 rs539765 A G 3127.00 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=26.96;SB=-2048.03;TI=NM_012104,NM_138973,NM_138971,NM_138972;GI=BACE1,BACE1,BACE1,BACE1;FC=Missense_C481R,Missense_C412R,Missense_C437R,Missense_C456R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3160,226,0:54:99:1.000 chr11 117864047 rs2256111 A G 2240.26 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;QD=26.05;SB=-1536.40;TI=NM_001558,NR_026691;GI=IL10RA,IL10RA;FC=Synonymous_A153A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2273,163,0:50:99:1.000 chr11 117869670 rs2229113 A G 2159.71 PASS DP=69;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=31.30;SB=-1180.82;TI=NM_001558,NR_026691;GI=IL10RA,IL10RA;FC=Missense_R351G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:2193,163,0:58:99:1.000 chr11 117872086 rs9610 G A 2536.66 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=59;MQ0=0;QD=32.94;SB=-670.02;TI=NM_001558,NR_026691;GI=IL10RA,IL10RA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2570,193,0:59:99:1.000 chr11 117982495 rs1941635 T G 7233.02 PASS BaseQRankSum=1.680;DP=268;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.1721;MQ=52;MQ0=0;MQRankSum=-1.137;QD=26.99;ReadPosRankSum=-1.603;SB=-4770.30;TI=NM_001173551,NM_019894,NM_001083947,NM_001173552;GI=TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4;FC=Missense_V206G,Missense_V208G,Missense_V203G,Missense_V168G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,267:268:99:7233,518,0:52:99:0.996 chr11 117988082 rs642215 T C 7620.85 PASS DP=292;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2480;MQ=52;MQ0=0;QD=26.10;SB=-5371.91;TI=NM_001173551,NM_019894,NM_001083947,NM_001173552;GI=TMPRSS4,TMPRSS4,TMPRSS4,TMPRSS4;FC=Synonymous_S403S,Synonymous_S405S,Synonymous_S400S,Synonymous_S365S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,291:292:99:7621,539,0:52:99:1.000 chr11 118006735 . C G 11.43 SB BaseQRankSum=-6.630;DP=117;Dels=0.00;FS=22.312;HRun=3;HaplotypeScore=76.6971;MQ=43;MQ0=0;MQRankSum=-4.578;QD=0.10;ReadPosRankSum=4.326;SB=-0.01;TI=NR_024527,NM_001142349,NM_001142348,NM_174934;GI=SCN4B,SCN4B,SCN4B,SCN4B;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,26:117:41.10:41,0,2371:43:11:0.224 chr11 118006743 . A G 133.67 SB BaseQRankSum=-5.297;DP=91;Dels=0.00;FS=42.574;HRun=3;HaplotypeScore=131.0755;MQ=38;MQ0=0;MQRankSum=-2.171;QD=1.47;ReadPosRankSum=2.513;SB=-0.01;TI=NR_024527,NM_001142349,NM_001142348,NM_174934;GI=SCN4B,SCN4B,SCN4B,SCN4B;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,25:91:99:164,0,1548:38:99:0.278 chr11 118006752 . T G 536.66 SB BaseQRankSum=-2.566;DP=90;Dels=0.03;FS=78.921;HRun=11;HaplotypeScore=86.7219;MQ=36;MQ0=0;MQRankSum=-3.739;QD=5.96;ReadPosRankSum=-0.551;SB=-0.01;TI=NR_024527,NM_001142349,NM_001142348,NM_174934;GI=SCN4B,SCN4B,SCN4B,SCN4B;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,33:87:99:567,0,1285:36:99:0.384 chr11 118006807 . A AGGGGGAGAAGC 7526.18 PASS BaseQRankSum=-1.324;DP=75;FS=0.000;HRun=0;HaplotypeScore=823.5489;MQ=31;MQ0=0;MQRankSum=1.170;QD=100.35;ReadPosRankSum=1.293;SB=-2870.63;TI=NR_024527,NM_001142349,NM_001142348,NM_174934;GI=SCN4B,SCN4B,SCN4B,SCN4B;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:21,47:75:32.19:7526,32,0:31:32:0.691 chr11 118016068 rs1793137 C T 5940.92 PASS DP=216;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=55;MQ0=0;QD=27.50;SB=-4010.39;TI=NR_024527,NM_001142349,NM_001142348,NM_174934;GI=SCN4B,SCN4B,SCN4B,SCN4B;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,216:216:99:5941,424,0:55:99:1.000 chr11 118895686 rs8192696 C T 1782.53 PASS BaseQRankSum=3.756;DP=154;Dels=0.00;FS=8.428;HRun=0;HaplotypeScore=12.6902;MQ=52;MQ0=0;MQRankSum=2.512;QD=11.57;ReadPosRankSum=-0.465;SB=-936.85;TI=NM_001164280,NM_001467,NM_001164278,NM_001164279,NM_001164277;GI=SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4;FC=Missense_G409S,Missense_G409S,Missense_G431S,Missense_G336S,Missense_G409S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,74:154:99:1813,0,1827:52:99:0.481 chr11 118898435 rs5795159 AC A 7773.48 PASS DP=190;FS=0.000;HRun=2;HaplotypeScore=122.8260;MQ=53;MQ0=0;QD=40.91;SB=-3314.27;TI=NM_001164280,NM_001467,NM_001164278,NM_001164279,NM_001164277;GI=SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4;FC=Frameshift,Frameshift,Frameshift,Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,185:190:99:7773,557,0:53:99:0.974 chr11 119043656 rs643423 C T 1919.12 PASS BaseQRankSum=-1.016;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4050;MQ=52;MQ0=0;MQRankSum=1.638;QD=11.22;ReadPosRankSum=0.169;SB=-1280.76;TI=NM_170722,NM_024618;GI=NLRX1,NLRX1;FC=Missense_P63S,Missense_P63S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,90:171:99:1949,0,1974:52:99:0.526 chr11 119052826 rs4245191 C A 2674.60 PASS BaseQRankSum=2.984;DP=220;Dels=0.00;FS=4.445;HRun=0;HaplotypeScore=8.7489;MQ=53;MQ0=0;MQRankSum=-0.056;QD=12.16;ReadPosRankSum=-0.077;SB=-1051.60;TI=NM_170722,NM_024618;GI=NLRX1,NLRX1;FC=Missense_A793E,Missense_A793E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,106:220:99:2705,0,3024:53:99:0.482 chr11 119155976 rs61755280 T C 895.18 PASS BaseQRankSum=0.633;DP=121;Dels=0.00;FS=0.742;HRun=2;HaplotypeScore=12.6423;MQ=55;MQ0=0;MQRankSum=1.724;QD=7.40;ReadPosRankSum=2.636;SB=-477.17;TI=NM_005188;GI=CBL;FC=Synonymous_P547P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,37:121:99:925,0,2233:55:99:0.306 chr11 119215046 rs35885438 C T 1418.09 PASS BaseQRankSum=1.456;DP=137;Dels=0.00;FS=6.494;HRun=0;HaplotypeScore=6.5261;MQ=50;MQ0=0;MQRankSum=2.965;QD=10.35;ReadPosRankSum=-0.492;SB=-796.57;TI=NM_031433,NM_015645;GI=MFRP,C1QTNF5;FC=Synonymous_L318L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,60:137:99:1448,0,1671:50:99:0.438 chr11 119216231 rs2510143 A G 4398.49 PASS DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=50;MQ0=0;QD=26.34;SB=-2808.01;TI=NM_031433,NM_015645;GI=MFRP,C1QTNF5;FC=Synonymous_H180H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:167:99:4398,313,0:50:99:1.000 chr11 119510644 rs7940667 A C 2284.22 PASS DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=26.87;SB=-1551.56;TI=NM_203285;GI=PVRL1;FC=Missense_V361G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2317,166,0:52:99:1.000 chr11 120292570 rs532006 T A 1890.99 PASS DP=68;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=56;MQ0=0;QD=27.81;SB=-1306.03;TI=NM_001198665,NM_015313;GI=ARHGEF12,ARHGEF12;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:1924,138,0:56:99:1.000 chr11 120319064 rs2305008 A C 1006.88 PASS BaseQRankSum=2.190;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=53;MQ0=0;MQRankSum=0.932;QD=8.99;ReadPosRankSum=0.190;SB=-681.74;TI=NM_001198665,NM_015313;GI=ARHGEF12,ARHGEF12;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,45:112:99:1037,0,1621:53:99:0.402 chr11 120776001 rs2156634 G A 4170.08 PASS DP=139;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.5755;MQ=56;MQ0=0;QD=30.00;SB=-2105.48;TI=NM_014619;GI=GRIK4;FC=Synonymous_E425E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,139:139:99:4170,307,0:56:99:1.000 chr11 120823608 rs2298725 G A 1498.38 PASS BaseQRankSum=1.884;DP=127;Dels=0.00;FS=0.673;HRun=0;HaplotypeScore=3.5489;MQ=54;MQ0=0;MQRankSum=1.469;QD=11.80;ReadPosRankSum=0.654;SB=-948.70;TI=NM_014619;GI=GRIK4;FC=Synonymous_P545P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,66:127:99:1528,0,1328:54:99:0.520 chr11 120827609 rs644057 A G 3705.11 PASS BaseQRankSum=1.304;DP=290;Dels=0.00;FS=0.912;HRun=2;HaplotypeScore=11.9264;MQ=54;MQ0=0;MQRankSum=-0.309;QD=12.78;ReadPosRankSum=-1.149;SB=-2627.63;TI=NM_014619;GI=GRIK4;FC=Synonymous_Q607Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,164:290:99:3705,0,2868:54:99:0.567 chr11 120996292 rs536069 A G 2930.19 PASS DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=57;MQ0=0;QD=29.30;SB=-1610.19;TI=NM_005422;GI=TECTA;FC=Synonymous_A495A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:100:99:2963,214,0:57:99:1.000 chr11 120998942 rs10502247 C T 3080.22 PASS BaseQRankSum=1.703;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=50;MQ0=0;MQRankSum=1.318;QD=26.10;ReadPosRankSum=-0.725;SB=-2082.21;TI=NM_005422;GI=TECTA;FC=Synonymous_I752I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,116:118:99:3113,220,0:50:99:0.991 chr11 121000784 rs586473 T C 2966.78 PASS DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=55;MQ0=0;QD=30.90;SB=-1407.30;TI=NM_005422;GI=TECTA;FC=Synonymous_Y935Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,96:96:99:3000,220,0:55:99:1.000 chr11 121032978 rs526433 G A 4428.17 PASS DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=28.39;SB=-2762.67;TI=NM_005422;GI=TECTA;FC=Missense_S1724N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,156:156:99:4428,316,0:55:99:1.000 chr11 121038810 rs2155369 C T 536.87 PASS BaseQRankSum=1.114;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=57;MQ0=0;MQRankSum=-0.680;QD=7.56;ReadPosRankSum=0.608;SB=-378.73;TI=NM_005422;GI=TECTA;FC=Synonymous_S1878S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,25:71:99:567,0,1156:57:99:0.352 chr11 121403229 rs636588 T C 4143.12 PASS DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.9177;MQ=53;MQ0=0;QD=24.81;SB=-3130.03;TI=NM_003105;GI=SORL1;FC=Synonymous_A551A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:167:99:4143,295,0:53:99:1.000 chr11 121437819 rs1699107 C G 4739.43 PASS DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=54;MQ0=0;QD=28.55;SB=-3218.46;TI=NM_003105;GI=SORL1;FC=Missense_Q1074E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,166:166:99:4739,340,0:54:99:1.000 chr11 121448090 rs2070045 T G 958.46 PASS BaseQRankSum=2.281;DP=78;Dels=0.00;FS=3.085;HRun=1;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=-0.280;QD=12.29;ReadPosRankSum=1.081;SB=-624.56;TI=NM_003105;GI=SORL1;FC=Synonymous_S1187S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,41:78:99:988,0,897:51:99:0.526 chr11 121456962 rs1699102 C T 1533.54 PASS BaseQRankSum=0.931;DP=193;Dels=0.00;FS=1.147;HRun=0;HaplotypeScore=2.6274;MQ=54;MQ0=0;MQRankSum=3.524;QD=7.95;ReadPosRankSum=-0.300;SB=-1066.94;TI=NM_003105;GI=SORL1;FC=Synonymous_N1246N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,72:193:99:1564,0,2699:54:99:0.373 chr11 121475922 rs3824968 T A 1365.04 PASS BaseQRankSum=1.115;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=53;MQ0=0;MQRankSum=0.951;QD=11.67;ReadPosRankSum=0.112;SB=-915.76;TI=NM_003105;GI=SORL1;FC=Synonymous_A1584A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,58:117:99:1395,0,1404:53:99:0.496 chr11 121491782 rs1792120 G A 2137.60 PASS DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=35.63;SB=-355.44;TI=NM_003105;GI=SORL1;FC=Missense_V1967I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:2171,163,0:58:99:1.000 chr11 122928622 rs4802 A G 3853.70 PASS BaseQRankSum=0.346;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4411;MQ=55;MQ0=0;MQRankSum=1.706;QD=28.55;ReadPosRankSum=-0.988;SB=-2103.64;TI=NM_006597,NM_153201;GI=HSPA8,HSPA8;FC=Synonymous_A587A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,134:135:99:3854,252,0:55:99:0.993 chr11 122929407 rs1064585 T G 1707.99 PASS DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5737;MQ=58;MQ0=0;QD=33.49;SB=-687.79;TI=NM_006597,NM_153201;GI=HSPA8,HSPA8;FC=Synonymous_I485I,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:51:99:1741,129,0:58:99:1.000 chr11 123600475 rs1144507 A G 2042.77 PASS BaseQRankSum=-0.427;DP=162;Dels=0.00;FS=0.578;HRun=0;HaplotypeScore=5.3097;MQ=53;MQ0=0;MQRankSum=2.603;QD=12.61;ReadPosRankSum=3.030;SB=-1309.54;TI=NM_003455;GI=ZNF202;FC=Missense_V154A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,87:162:99:2073,0,1799:53:99:0.537 chr11 124626494 . C A 5.92 LowGQX;LowGQ;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.804;QD=2.96;ReadPosRankSum=0.804;SB=-0.01;TI=NM_138961;GI=ESAM;FC=Missense_D132Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:25.53:35,0,26:60:6:0.500 chr11 124793682 rs10790715 T C 656.44 PASS BaseQRankSum=0.890;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.597;QD=12.62;ReadPosRankSum=-0.450;SB=-220.51;TI=NM_152722;GI=HEPACAM;FC=Missense_M218V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,24:52:99:686,0,804:57:99:0.462 chr11 124793716 rs10790716 G A 1185.66 PASS BaseQRankSum=0.640;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=1.322;QD=9.12;ReadPosRankSum=-0.071;SB=-710.48;TI=NM_152722;GI=HEPACAM;FC=Synonymous_R206R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,53:130:99:1216,0,1818:56:99:0.408 chr11 125769354 rs667782 T C 3074.13 PASS DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.28;SB=-1364.55;TI=NM_145014,NM_001134793,NM_031307;GI=HYLS1,HYLS1,PUS3;FC=Missense_C31R,Missense_C31R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:3107,229,0:55:99:1.000 chr11 125788678 rs683155 T C 987.89 PASS BaseQRankSum=0.675;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7523;MQ=53;MQ0=0;MQRankSum=1.173;QD=27.44;ReadPosRankSum=1.670;SB=-430.86;TI=NM_013264;GI=DDX25;FC=Synonymous_C398C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,33:36:36.49:1021,36,0:53:36:0.943 chr11 125830970 rs684535 A T 2674.00 PASS DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=51;MQ0=0;QD=26.48;SB=-1865.57;TI=NM_016952;GI=CDON;FC=Missense_I1221N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2707,193,0:51:99:1.000 chr11 125831701 rs2276061 G A 1748.02 PASS BaseQRankSum=1.433;DP=189;Dels=0.00;FS=5.202;HRun=1;HaplotypeScore=2.7776;MQ=52;MQ0=0;MQRankSum=0.079;QD=9.25;ReadPosRankSum=0.454;SB=-1163.28;TI=NM_016952;GI=CDON;FC=Synonymous_V1183V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,84:189:99:1778,0,2415:52:99:0.444 chr11 125851055 rs564214 A G 3224.03 PASS DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=29.58;SB=-1902.28;TI=NM_016952;GI=CDON;FC=Synonymous_N1055N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:109:99:3257,238,0:54:99:1.000 chr11 125851181 rs684805 G A 2629.39 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=57;MQ0=0;QD=27.97;SB=-1370.11;TI=NM_016952;GI=CDON;FC=Synonymous_N1013N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2662,193,0:57:99:1.000 chr11 125891269 rs3740912 C T 1694.21 PASS BaseQRankSum=-1.624;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5747;MQ=52;MQ0=0;MQRankSum=1.952;QD=11.68;ReadPosRankSum=-0.390;SB=-1196.75;TI=NM_016952;GI=CDON;FC=Missense_V75I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,74:145:99:1724,0,1608:52:99:0.510 chr11 126139100 rs1786702 T C 1193.72 PASS BaseQRankSum=1.076;DP=104;Dels=0.00;FS=0.748;HRun=0;HaplotypeScore=5.5482;MQ=54;MQ0=0;MQRankSum=0.801;QD=11.48;ReadPosRankSum=0.808;SB=-674.21;TI=NM_017547,NR_037647,NR_037648;GI=FOXRED1,FOXRED1,FOXRED1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,48:104:99:1224,0,1214:54:99:0.471 chr11 126139313 rs1786703 T A 493.06 SB BaseQRankSum=1.193;DP=25;Dels=0.00;FS=3.979;HRun=1;HaplotypeScore=6.7627;MQ=57;MQ0=0;MQRankSum=2.080;QD=19.72;ReadPosRankSum=-0.139;SB=-0.01;TI=NM_017547,NR_037647,NR_037648;GI=FOXRED1,FOXRED1,FOXRED1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,15:25:99:523,0,296:57:99:0.600 chr11 126294817 rs948052 G A 1498.05 SB BaseQRankSum=-1.238;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6417;MQ=57;MQ0=0;MQRankSum=1.238;QD=35.67;ReadPosRankSum=-1.733;SB=-0.01;TI=NM_032531;GI=KIRREL3;FC=Synonymous_G665G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,41:42:85.72:1531,86,0:57:86:0.976 chr11 126391297 rs12269776 T G 2079.91 PASS BaseQRankSum=2.433;DP=201;Dels=0.00;FS=0.521;HRun=0;HaplotypeScore=16.4250;MQ=54;MQ0=0;MQRankSum=0.215;QD=10.35;ReadPosRankSum=0.116;SB=-1496.71;TI=NM_032531,NM_001161707;GI=KIRREL3,KIRREL3;FC=Synonymous_R116R,Synonymous_R116R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,93:201:99:2110,0,2599:54:99:0.463 chr11 128333503 rs7111236 T C 780.58 PASS BaseQRankSum=2.033;DP=78;Dels=0.00;FS=1.906;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=0.229;QD=10.01;ReadPosRankSum=-1.258;SB=-622.81;TI=NM_005238,NM_001162422,NM_001143820;GI=ETS1,ETS1,ETS1;FC=Synonymous_L337L,Synonymous_L121L,Synonymous_L381L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,38:78:99:811,0,913:56:99:0.494 chr11 128781339 rs6590357 T C 5838.59 PASS BaseQRankSum=0.405;DP=188;Dels=0.00;FS=4.393;HRun=0;HaplotypeScore=6.2991;MQ=55;MQ0=0;MQRankSum=0.829;QD=31.06;ReadPosRankSum=-1.437;SB=-2601.25;TI=NM_000890;GI=KCNJ5;FC=Synonymous_S57S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,187:188:99:5839,399,0:55:99:0.995 chr11 128781978 rs7118824 T G 6796.56 PASS DP=233;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.6487;MQ=54;MQ0=0;QD=29.17;SB=-3993.78;TI=NM_000890;GI=KCNJ5;FC=Synonymous_L270L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,232:233:99:6797,497,0:54:99:1.000 chr11 128782002 rs7118833 T C 7004.37 PASS DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.3026;MQ=54;MQ0=0;QD=28.82;SB=-4655.24;TI=NM_000890;GI=KCNJ5;FC=Synonymous_H278H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,243:243:99:7004,509,0:54:99:1.000 chr11 128782012 rs7102584 C G 7008.08 PASS DP=241;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7316;MQ=55;MQ0=0;QD=29.08;SB=-4471.41;TI=NM_000890;GI=KCNJ5;FC=Missense_Q282E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,240:241:99:7008,509,0:55:99:1.000 chr11 128786294 rs4937391 G A 1034.77 PASS DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=34.49;SB=-185.96;TI=NM_000890;GI=KCNJ5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,30:30:81.26:1068,81,0:56:81:1.000 chr11 130058047 rs62642510 A G 982.35 PASS BaseQRankSum=1.058;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=52;MQ0=0;MQRankSum=2.176;QD=11.84;ReadPosRankSum=2.057;SB=-491.88;TI=NM_021978;GI=ST14;FC=Synonymous_P40P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,37:83:99:1012,0,1126:52:99:0.446 chr11 130058437 rs62621285 G A 3199.28 PASS BaseQRankSum=1.410;DP=238;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.1022;MQ=54;MQ0=0;MQRankSum=0.673;QD=13.44;ReadPosRankSum=-0.681;SB=-2139.75;TI=NM_021978;GI=ST14;FC=Missense_R85H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,130:238:99:3229,0,2501:54:99:0.556 chr11 130066261 rs17667603 C A 1486.80 PASS BaseQRankSum=-0.694;DP=132;Dels=0.00;FS=0.655;HRun=0;HaplotypeScore=2.7829;MQ=52;MQ0=0;MQRankSum=3.930;QD=11.26;ReadPosRankSum=1.917;SB=-809.12;TI=NM_021978;GI=ST14;FC=Missense_R381S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,61:132:99:1517,0,1654:52:99:0.462 chr11 130066335 rs476106 C T 1114.23 PASS BaseQRankSum=-0.880;DP=79;Dels=0.00;FS=1.874;HRun=0;HaplotypeScore=5.3880;MQ=53;MQ0=0;MQRankSum=-0.999;QD=14.10;ReadPosRankSum=-1.069;SB=-646.97;TI=NM_021978;GI=ST14;FC=Synonymous_N405N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,46:79:99:1144,0,844:53:99:0.582 chr11 130066460 . T C 977.46 PASS BaseQRankSum=-0.466;DP=98;Dels=0.02;FS=0.000;HRun=7;HaplotypeScore=26.6330;MQ=46;MQ0=0;MQRankSum=-2.805;QD=9.97;ReadPosRankSum=-1.228;SB=-450.17;TI=NM_021978;GI=ST14;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,46:96:99:1007,0,1237:46:99:0.479 chr11 130750642 rs2298566 A C 2931.38 PASS BaseQRankSum=2.824;DP=230;Dels=0.00;FS=1.050;HRun=1;HaplotypeScore=7.9371;MQ=52;MQ0=0;MQRankSum=3.715;QD=12.75;ReadPosRankSum=1.152;SB=-1628.82;TI=NM_014758;GI=SNX19;FC=Missense_L878R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,120:230:99:2961,0,2552:52:99:0.522 chr11 130776524 rs4414223 T C 754.03 PASS BaseQRankSum=0.851;DP=70;Dels=0.00;FS=3.284;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=0.839;QD=10.77;ReadPosRankSum=0.473;SB=-343.10;TI=NM_014758;GI=SNX19;FC=Missense_N753S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,31:70:99:784,0,950:55:99:0.443 chr11 130776613 rs4373936 A G 1326.94 PASS BaseQRankSum=-0.907;DP=110;Dels=0.00;FS=7.422;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=0.416;QD=12.06;ReadPosRankSum=2.805;SB=-676.57;TI=NM_014758;GI=SNX19;FC=Synonymous_S723S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,52:110:99:1357,0,1409:55:99:0.473 chr11 130780015 rs1781 C T 1356.60 PASS BaseQRankSum=1.734;DP=116;Dels=0.00;FS=0.682;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=0.447;QD=11.69;ReadPosRankSum=1.624;SB=-875.97;TI=NM_014758;GI=SNX19;FC=Synonymous_P644P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,57:116:99:1387,0,1348:51:99:0.491 chr11 130780225 rs681982 C A 2639.09 PASS DP=97;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.3592;MQ=49;MQ0=2;QD=27.21;SB=-1579.27;TI=NM_014758;GI=SNX19;FC=Missense_L618F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:97:99:2672,199,0:49:99:1.000 chr11 130780268 . TC T 1358.63 PASS DP=56;FS=0.000;HRun=2;HaplotypeScore=366.4589;MQ=49;MQ0=0;QD=24.26;SB=-662.47;TI=NM_014758;GI=SNX19;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:40,14:56:99:1401,149,0:49:99:0.259 chr11 130780270 rs1237478 C A 1010.89 PASS BaseQRankSum=2.424;DP=54;Dels=0.04;FS=1.172;HRun=14;HaplotypeScore=23.6017;MQ=50;MQ0=0;MQRankSum=0.237;QD=18.72;ReadPosRankSum=-1.743;SB=-577.17;TI=NM_014758;GI=SNX19;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,38:52:99:1041,0,232:50:99:0.731 chr11 130784754 rs3751037 C G 3645.31 PASS BaseQRankSum=1.685;DP=271;Dels=0.00;FS=4.123;HRun=0;HaplotypeScore=4.5979;MQ=56;MQ0=0;MQRankSum=0.024;QD=13.45;ReadPosRankSum=0.502;SB=-1775.93;TI=NM_014758;GI=SNX19;FC=Missense_V361L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,142:271:99:3645,0,3456:56:99:0.524 chr11 130784971 rs3751036 C G 4244.92 PASS BaseQRankSum=0.594;DP=318;Dels=0.00;FS=0.412;HRun=2;HaplotypeScore=13.6372;MQ=55;MQ0=0;MQRankSum=0.732;QD=13.35;ReadPosRankSum=-1.041;SB=-2504.62;TI=NM_014758;GI=SNX19;FC=Synonymous_P288P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:152,166:318:99:4245,0,3838:55:99:0.522 chr12 311949 rs216250 A G 924.37 PASS BaseQRankSum=-1.075;DP=92;Dels=0.00;FS=0.797;HRun=1;HaplotypeScore=1.7608;MQ=53;MQ0=0;MQRankSum=0.555;QD=10.05;ReadPosRankSum=-1.075;SB=-586.70;TI=NM_001122847,NM_001122848,NM_003044;GI=SLC6A12,SLC6A12,SLC6A12;FC=Synonymous_T149T,Synonymous_T149T,Synonymous_T149T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,40:92:99:954,0,1202:53:99:0.435 chr12 319111 rs526690 T C 2349.66 PASS BaseQRankSum=2.070;DP=164;Dels=0.00;FS=2.123;HRun=1;HaplotypeScore=8.1605;MQ=52;MQ0=0;MQRankSum=-0.075;QD=14.33;ReadPosRankSum=-0.374;SB=-1138.47;TI=NM_001122847,NM_001122848,NM_003044;GI=SLC6A12,SLC6A12,SLC6A12;FC=Synonymous_A14A,Synonymous_A14A,Synonymous_A14A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,94:164:99:2380,0,1860:52:99:0.573 chr12 319125 rs557881 A G 2006.17 PASS BaseQRankSum=1.077;DP=145;Dels=0.00;FS=4.416;HRun=0;HaplotypeScore=11.6415;MQ=52;MQ0=0;MQRankSum=-0.760;QD=13.84;ReadPosRankSum=0.609;SB=-948.40;TI=NM_001122847,NM_001122848,NM_003044;GI=SLC6A12,SLC6A12,SLC6A12;FC=Missense_C10R,Missense_C10R,Missense_C10R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,81:145:99:2036,0,1738:52:99:0.566 chr12 332362 rs2289954 C T 1341.54 PASS BaseQRankSum=0.920;DP=113;Dels=0.00;FS=5.994;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.609;QD=11.87;ReadPosRankSum=1.226;SB=-978.59;TI=NM_001190997,NM_016615;GI=SLC6A13,SLC6A13;FC=Synonymous_A358A,Synonymous_A450A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,62:113:99:1372,0,1259:54:99:0.549 chr12 406292 rs2229351 G A 1122.42 PASS BaseQRankSum=1.534;DP=89;Dels=0.00;FS=2.884;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=-0.070;QD=12.61;ReadPosRankSum=0.037;SB=-683.75;TI=NM_001042603;GI=KDM5A;FC=Synonymous_S1383S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,50:89:99:1152,0,922:51:99:0.562 chr12 427575 rs11062385 A G 200.99 PASS BaseQRankSum=0.760;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-0.109;QD=9.57;ReadPosRankSum=-0.326;SB=-31.62;TI=NM_001042603;GI=KDM5A;FC=Missense_M865T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,8:21:99:231,0,390:57:99:0.381 chr12 498267 . CGGG CG,C 378.78 R8;SB BaseQRankSum=-1.905;DP=30;FS=0.000;HaplotypeScore=229.7129;MQ=39;MQ0=0;MQRankSum=0.741;QD=12.63;ReadPosRankSum=0.212;SB=-0.00;TI=NM_001042603;GI=KDM5A;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:12,0,4:30:62.51:457,63,93,87,0,217:39:63:0.250 chr12 862989 rs3168640 T C 7571.89 PASS DP=264;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.7440;MQ=53;MQ0=0;QD=28.68;SB=-5002.93;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Synonymous_C86C,Synonymous_C86C,Synonymous_C86C,Synonymous_C86C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,264:264:99:7572,548,0:53:99:1.000 chr12 939302 rs10774466 A G 2285.29 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7748;MQ=54;MQ0=0;QD=28.21;SB=-1102.64;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Synonymous_A429A,Synonymous_A429A,Synonymous_A429A,Synonymous_A429A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:81:99:2318,169,0:54:99:1.000 chr12 974308 . T TC 279.74 PASS BaseQRankSum=-2.822;DP=24;FS=2.521;HRun=3;HaplotypeScore=110.4394;MQ=58;MQ0=0;MQRankSum=0.961;QD=11.66;ReadPosRankSum=0.093;SB=-69.84;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Noncoding,Frameshift,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,9:24:99:319,0,443:58:99:0.391 chr12 974355 rs11441897 T TC 1158.77 PASS BaseQRankSum=-1.573;DP=53;FS=2.449;HRun=1;HaplotypeScore=229.3032;MQ=57;MQ0=0;MQRankSum=3.228;QD=21.86;ReadPosRankSum=-0.009;SB=-530.51;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Noncoding,Frameshift,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,32:53:99:1198,0,732:57:99:0.604 chr12 974404 rs7300829 T C 4099.77 PASS DP=168;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7602;MQ=49;MQ0=0;QD=24.40;SB=-3041.53;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Silent,Synonymous_P756P,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,166:168:99:4100,289,0:49:99:1.000 chr12 977576 . G T 3180.02 PASS BaseQRankSum=2.934;DP=257;Dels=0.00;FS=0.461;HRun=2;HaplotypeScore=3.8928;MQ=54;MQ0=0;MQRankSum=1.350;QD=12.37;ReadPosRankSum=0.628;SB=-2040.85;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Silent,Missense_S980I,Missense_S895I,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,137:257:99:3210,0,2932:54:99:0.533 chr12 987482 rs1012729 G A 1749.76 PASS DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.9539;MQ=46;MQ0=1;QD=27.34;SB=-939.17;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Synonymous_Q776Q,Synonymous_Q1274Q,Synonymous_Q1189Q,Synonymous_Q775Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1783,132,0:46:99:1.000 chr12 987533 . C CT 278.24 R8 BaseQRankSum=-0.047;DP=39;FS=1.354;HRun=15;HaplotypeScore=270.3783;MQ=50;MQ0=1;MQRankSum=-0.298;QD=7.13;ReadPosRankSum=-0.830;SB=-120.18;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,16:38:99:317,0,161:50:99:0.552 chr12 988894 rs9804992 G A 1210.45 PASS BaseQRankSum=-0.761;DP=121;Dels=0.00;FS=0.702;HRun=1;HaplotypeScore=4.4704;MQ=50;MQ0=0;MQRankSum=1.004;QD=10.00;ReadPosRankSum=2.283;SB=-647.54;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Synonymous_Q843Q,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,53:121:99:1240,0,1482:50:99:0.442 chr12 990912 rs956868 A C 7026.68 PASS DP=236;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=16.1694;MQ=52;MQ0=0;QD=29.77;SB=-4055.38;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Missense_T1056P,Missense_T1308P,Missense_T1316P,Missense_T809P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,235:236:99:7027,512,0:52:99:1.000 chr12 993930 rs7300444 C T 4330.52 PASS BaseQRankSum=-0.363;DP=324;Dels=0.00;FS=0.413;HRun=0;HaplotypeScore=10.8855;MQ=55;MQ0=0;MQRankSum=1.514;QD=13.37;ReadPosRankSum=-1.225;SB=-2167.80;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Synonymous_N1320N,Synonymous_N1572N,Synonymous_N1580N,Synonymous_N1073N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:161,163:324:99:4331,0,4212:55:99:0.503 chr12 994487 rs7955371 G C 14811.61 PASS DP=525;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0192;MQ=55;MQ0=0;QD=28.21;SB=-9871.71;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Missense_C1506S,Missense_C1758S,Missense_C1766S,Missense_C1259S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,523:525:99:14812,1059,0:55:99:1.000 chr12 1017197 rs4766334 C T 3075.81 PASS DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=57;MQ0=0;QD=32.38;SB=-1278.93;TI=NM_018979,NM_213655,NM_001184985,NM_014823;GI=WNK1,WNK1,WNK1,WNK1;FC=Synonymous_Y2276Y,Synonymous_Y2528Y,Synonymous_Y2536Y,Synonymous_Y2028Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:3109,229,0:57:99:1.000 chr12 1022569 rs4987208 A C 970.49 PASS BaseQRankSum=2.676;DP=72;Dels=0.00;FS=1.953;HRun=1;HaplotypeScore=2.6823;MQ=53;MQ0=0;MQRankSum=2.296;QD=13.48;ReadPosRankSum=-0.823;SB=-608.43;TI=NM_134424;GI=RAD52;FC=Nonsense_Y415X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,37:72:99:1000,0,864:53:99:0.521 chr12 1904901 . C CAGG 2244.48 PASS BaseQRankSum=-1.515;DP=101;FS=0.768;HRun=0;HaplotypeScore=80.1043;MQ=53;MQ0=0;MQRankSum=2.126;QD=22.22;ReadPosRankSum=0.652;SB=-1130.75;TI=NM_172364;GI=CACNA2D4;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,44:101:99:2284,0,2213:53:99:0.436 chr12 1965369 rs2286372 G A 1829.54 PASS BaseQRankSum=0.339;DP=170;Dels=0.00;FS=1.252;HRun=1;HaplotypeScore=5.4129;MQ=53;MQ0=0;MQRankSum=2.009;QD=10.76;ReadPosRankSum=0.364;SB=-974.20;TI=NM_172364;GI=CACNA2D4;FC=Synonymous_L679L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,80:170:99:1860,0,2362:53:99:0.471 chr12 1995403 rs10735005 T C 997.70 PASS BaseQRankSum=0.018;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=53;MQ0=0;MQRankSum=1.768;QD=10.18;ReadPosRankSum=0.879;SB=-516.87;TI=NM_172364;GI=CACNA2D4;FC=Missense_I327V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,38:98:99:1028,0,1452:53:99:0.388 chr12 2058245 rs2240612 T C 1923.81 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8675;MQ=50;MQ0=0;QD=26.35;SB=-1239.69;TI=NM_152640;GI=DCP1B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:1957,141,0:50:99:1.000 chr12 2062323 . T TTGC 6168.63 R8 BaseQRankSum=-3.297;DP=178;FS=0.000;HRun=0;HaplotypeScore=174.4306;MQ=59;MQ0=0;MQRankSum=1.896;QD=34.66;ReadPosRankSum=0.160;SB=-2196.64;TI=NM_152640;GI=DCP1B;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,128:178:99:6169,0,137:59:99:0.727 chr12 2558186 rs1544514 G A 1596.68 PASS BaseQRankSum=0.162;DP=107;Dels=0.00;FS=1.639;HRun=0;HaplotypeScore=3.5764;MQ=53;MQ0=0;MQRankSum=1.566;QD=14.92;ReadPosRankSum=0.410;SB=-946.44;TI=NM_001129846,NM_001129844,NM_001129827,NM_001167624,NM_001129830,NM_001167623,NM_000719,NM_001129833,NM_001129835,NM_001129842,NM_001129843,NM_001129834,NM_001129832,NM_001129829,NM_001129839,NM_001129836,NM_001129831,NM_001167625,NM_001129841,NM_199460,NM_001129840,NM_001129837,NM_001129838;GI=CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C;FC=Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A,Synonymous_A174A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,64:107:99:1627,0,984:53:99:0.598 chr12 2788879 rs1051375 G A 1804.77 PASS DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=54;MQ0=0;QD=29.59;SB=-878.86;TI=NM_001129846,NM_001129844,NM_001129827,NM_001167624,NM_001129830,NM_001167623,NM_000719,NM_001129833,NM_001129835,NM_001129842,NM_001129843,NM_001129834,NM_001129832,NM_001129829,NM_001129839,NM_001129836,NM_001129831,NM_001167625,NM_001129841,NM_199460,NM_001129840,NM_001129837,NM_001129838;GI=CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C;FC=Synonymous_T1776T,Synonymous_T1784T,Synonymous_T1835T,Synonymous_T1787T,Synonymous_T1787T,Synonymous_T1787T,Synonymous_T1787T,Synonymous_T1806T,Synonymous_T1806T,Synonymous_T1787T,Synonymous_T1787T,Synonymous_T1806T,Synonymous_T1807T,Synonymous_T1828T,Synonymous_T1793T,Synonymous_T1804T,Synonymous_T1815T,Synonymous_T1776T,Synonymous_T1787T,Synonymous_T1835T,Synonymous_T1787T,Synonymous_T1795T,Synonymous_T1795T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1838,135,0:54:99:1.000 chr12 2791130 rs10848683 C T 3183.21 PASS DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6762;MQ=49;MQ0=0;QD=26.98;SB=-2240.02;TI=NM_001129846,NM_001129844,NM_001129827,NM_001167624,NM_001129830,NM_001167623,NM_000719,NM_001129833,NM_001129835,NM_001129842,NM_001129843,NM_001129834,NM_001129832,NM_001129829,NM_001129839,NM_001129836,NM_001129831,NM_001167625,NM_001129841,NM_199460,NM_001129840,NM_001129837,NM_001129838;GI=CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C;FC=Silent,Silent,Silent,Missense_P1820L,Missense_P1820L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P1868L,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,118:118:99:3216,232,0:49:99:1.000 chr12 2791132 rs10774053 A G 3349.08 PASS DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6762;MQ=49;MQ0=0;QD=27.45;SB=-2351.92;TI=NM_001129846,NM_001129844,NM_001129827,NM_001167624,NM_001129830,NM_001167623,NM_000719,NM_001129833,NM_001129835,NM_001129842,NM_001129843,NM_001129834,NM_001129832,NM_001129829,NM_001129839,NM_001129836,NM_001129831,NM_001167625,NM_001129841,NM_199460,NM_001129840,NM_001129837,NM_001129838;GI=CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C;FC=Silent,Silent,Silent,Missense_M1821V,Missense_M1821V,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M1869V,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3349,241,0:49:99:1.000 chr12 2791205 rs10774054 A G 1259.26 PASS DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6315;MQ=52;MQ0=0;QD=27.38;SB=-775.20;TI=NM_001129846,NM_001129844,NM_001129827,NM_001167624,NM_001129830,NM_001167623,NM_000719,NM_001129833,NM_001129835,NM_001129842,NM_001129843,NM_001129834,NM_001129832,NM_001129829,NM_001129839,NM_001129836,NM_001129831,NM_001167625,NM_001129841,NM_199460,NM_001129840,NM_001129837,NM_001129838;GI=CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C;FC=Silent,Silent,Silent,Missense_K1845R,Missense_K1845R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K1893R,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:96.30:1292,96,0:52:96:1.000 chr12 2794921 rs71458011 G A 74.38 LowVariantFreq BaseQRankSum=1.520;DP=125;Dels=0.00;FS=1.127;HRun=4;HaplotypeScore=10.0634;MQ=53;MQ0=1;MQRankSum=-2.207;QD=0.60;ReadPosRankSum=0.154;SB=-25.73;TI=NM_001129846,NM_001129844,NM_001129827,NM_001167624,NM_001129830,NM_001167623,NM_000719,NM_001129833,NM_001129835,NM_001129842,NM_001129843,NM_001129834,NM_001129832,NM_001129829,NM_001129839,NM_001129836,NM_001129831,NM_001167625,NM_001129841,NM_199460,NM_001129840,NM_001129837,NM_001129838;GI=CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C;FC=Missense_E1854K,Missense_E1862K,Missense_E1913K,Missense_E1900K,Missense_E1900K,Missense_E1865K,Missense_E1865K,Missense_E1884K,Missense_E1884K,Missense_E1865K,Missense_E1865K,Missense_E1884K,Missense_E1885K,Missense_E1906K,Missense_E1871K,Missense_E1882K,Missense_E1893K,Missense_E1925K,Missense_E1865K,Missense_E1948K,Missense_E1865K,Missense_E1873K,Missense_E1873K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,15:125:99:104,0,2778:53:74:0.120 chr12 2794937 . C T 41.13 LowVariantFreq;SB BaseQRankSum=-0.217;DP=124;Dels=0.00;FS=1.255;HRun=0;HaplotypeScore=3.6717;MQ=52;MQ0=1;MQRankSum=-3.753;QD=0.33;ReadPosRankSum=-1.742;SB=-0.01;TI=NM_001129846,NM_001129844,NM_001129827,NM_001167624,NM_001129830,NM_001167623,NM_000719,NM_001129833,NM_001129835,NM_001129842,NM_001129843,NM_001129834,NM_001129832,NM_001129829,NM_001129839,NM_001129836,NM_001129831,NM_001167625,NM_001129841,NM_199460,NM_001129840,NM_001129837,NM_001129838;GI=CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C,CACNA1C;FC=Missense_T1859M,Missense_T1867M,Missense_T1918M,Missense_T1905M,Missense_T1905M,Missense_T1870M,Missense_T1870M,Missense_T1889M,Missense_T1889M,Missense_T1870M,Missense_T1870M,Missense_T1889M,Missense_T1890M,Missense_T1911M,Missense_T1876M,Missense_T1887M,Missense_T1898M,Missense_T1930M,Missense_T1870M,Missense_T1953M,Missense_T1870M,Missense_T1878M,Missense_T1878M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,12:124:71.12:71,0,2884:52:41:0.097 chr12 3046802 rs33973716 A G 1190.27 PASS BaseQRankSum=0.821;DP=93;Dels=0.00;FS=0.796;HRun=0;HaplotypeScore=4.5721;MQ=55;MQ0=0;MQRankSum=0.759;QD=12.80;ReadPosRankSum=2.924;SB=-881.97;TI=NM_003324,NM_001160408;GI=TULP3,TULP3;FC=Synonymous_T310T,Synonymous_T310T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,54:93:99:1220,0,869:55:99:0.581 chr12 3049698 rs998814 T C 2109.91 PASS BaseQRankSum=1.121;DP=195;Dels=0.00;FS=1.163;HRun=0;HaplotypeScore=7.5450;MQ=53;MQ0=0;MQRankSum=1.327;QD=10.82;ReadPosRankSum=-1.075;SB=-1058.21;TI=NM_003324,NM_001160408;GI=TULP3,TULP3;FC=Silent,Missense_C438R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,88:195:99:2140,0,2423:53:99:0.454 chr12 4768193 rs4147682 A T 1919.11 PASS BaseQRankSum=2.420;DP=143;Dels=0.00;FS=2.301;HRun=6;HaplotypeScore=10.2028;MQ=55;MQ0=0;MQRankSum=1.751;QD=13.42;ReadPosRankSum=-0.585;SB=-883.80;TI=NM_005002;GI=NDUFA9;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,77:143:99:1949,0,1874:55:99:0.538 chr12 4768354 rs7972657 A C 951.00 PASS BaseQRankSum=3.730;DP=74;Dels=0.00;FS=3.451;HRun=0;HaplotypeScore=5.5644;MQ=58;MQ0=0;MQRankSum=0.239;QD=12.85;ReadPosRankSum=1.990;SB=-57.22;TI=NM_005002;GI=NDUFA9;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,33:74:99:981,0,1224:58:99:0.446 chr12 5021228 rs1048500 T C 3099.68 PASS BaseQRankSum=1.246;DP=251;Dels=0.00;FS=0.467;HRun=0;HaplotypeScore=14.6631;MQ=55;MQ0=0;MQRankSum=1.324;QD=12.35;ReadPosRankSum=1.774;SB=-1675.87;TI=NM_000217;GI=KCNA1;FC=Synonymous_C228C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:135,114:251:99:3130,0,3445:55:99:0.458 chr12 5021348 rs2227910 G C 2730.22 PASS BaseQRankSum=0.266;DP=248;Dels=0.00;FS=0.487;HRun=1;HaplotypeScore=53.1547;MQ=55;MQ0=0;MQRankSum=2.530;QD=11.01;ReadPosRankSum=-0.618;SB=-1417.27;TI=NM_000217;GI=KCNA1;FC=Synonymous_T268T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:138,109:247:99:2760,0,3410:55:99:0.441 chr12 5021984 rs4766309 T A 624.75 PASS BaseQRankSum=1.112;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=0.986;QD=16.89;ReadPosRankSum=1.237;SB=-250.78;TI=NM_000217;GI=KCNA1;FC=Synonymous_T480T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,23:37:99:655,0,337:59:99:0.622 chr12 5022041 rs4766310 G A 202.82 SB;LowDP BaseQRankSum=-0.244;DP=12;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.689;QD=16.90;ReadPosRankSum=-1.635;SB=-0.01;TI=NM_000217;GI=KCNA1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,7:12:99:233,0,162:60:99:0.583 chr12 5154462 rs2359641 T C 4869.12 PASS DP=158;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=18.6667;MQ=51;MQ0=1;QD=30.82;SB=-1804.82;TI=NM_002234;GI=KCNA5;FC=Synonymous_G383G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,155:157:99:4869,376,0:51:99:0.994 chr12 5603632 rs6332 G A 3670.69 PASS BaseQRankSum=2.192;DP=273;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.8497;MQ=57;MQ0=0;MQRankSum=1.763;QD=13.45;ReadPosRankSum=0.073;SB=-1679.84;TI=NM_001102654,NM_002527;GI=NTF3,NTF3;FC=Synonymous_P97P,Synonymous_P84P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,131:273:99:3671,0,3719:57:99:0.482 chr12 6061559 rs7962217 C T 588.11 PASS BaseQRankSum=0.509;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5211;MQ=54;MQ0=0;MQRankSum=0.822;QD=7.35;ReadPosRankSum=-0.277;SB=-406.22;TI=NM_000552;GI=VWF;FC=Missense_G2705R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,28:80:99:618,0,1229:54:99:0.350 chr12 6091000 rs216867 A G 1440.19 PASS BaseQRankSum=1.154;DP=124;Dels=0.00;FS=5.534;HRun=1;HaplotypeScore=6.5740;MQ=54;MQ0=0;MQRankSum=1.715;QD=11.61;ReadPosRankSum=-0.533;SB=-805.40;TI=NM_000552;GI=VWF;FC=Synonymous_T2413T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,58:124:99:1470,0,1561:54:99:0.468 chr12 6127891 rs1800385;rs56286209 C A 1689.26 PASS BaseQRankSum=0.891;DP=151;Dels=0.00;FS=1.369;HRun=1;HaplotypeScore=9.8329;MQ=49;MQ0=7;MQRankSum=1.675;QD=11.19;ReadPosRankSum=0.788;SB=-880.87;TI=NM_000552;GI=VWF;FC=Missense_V1565L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,66:151:99:1719,0,2170:49:99:0.446 chr12 6127919 rs1800384;rs41456147 T G 1830.65 PASS BaseQRankSum=-0.856;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.7664;MQ=44;MQ0=14;MQRankSum=1.199;QD=10.83;ReadPosRankSum=0.310;SB=-857.86;TI=NM_000552;GI=VWF;FC=Synonymous_A1555A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,73:169:99:1861,0,2440:44:99:0.435 chr12 6127943 rs216310;rs77814617 A G 5331.93 PASS DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=20.8050;MQ=44;MQ0=19;QD=29.62;SB=-2421.40;TI=NM_000552;GI=VWF;FC=Synonymous_T1547T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,180:180:99:5332,424,0:44:99:1.000 chr12 6128443 rs216311 T C 8424.91 PASS BaseQRankSum=0.230;DP=286;Dels=0.00;FS=3.042;HRun=0;HaplotypeScore=15.4889;MQ=54;MQ0=0;MQRankSum=-0.606;QD=29.46;ReadPosRankSum=0.533;SB=-5171.39;TI=NM_000552;GI=VWF;FC=Missense_T1381A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,285:286:99:8425,585,0:54:99:0.997 chr12 6143984 rs216321 T C 5910.57 PASS DP=207;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.5577;MQ=55;MQ0=0;QD=28.55;SB=-3696.97;TI=NM_000552;GI=VWF;FC=Missense_Q852R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,206:207:99:5911,430,0:55:99:1.000 chr12 6172202 rs1800378 T C 3004.42 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4870;MQ=54;MQ0=0;QD=26.59;SB=-2106.01;TI=NM_000552;GI=VWF;FC=Missense_H484R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3037,217,0:54:99:1.000 chr12 6457062 rs2228576 T C 433.81 SB;LowDP DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=36.15;SB=-0.01;TI=NM_001159576,NM_001038,NM_001159575;GI=SCNN1A,SCNN1A,SCNN1A;FC=Missense_T722A,Missense_T663A,Missense_T686A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,12:12:36.11:467,36,0:58:36:1.000 chr12 6464581 rs11542844 C T 589.28 PASS BaseQRankSum=0.425;DP=51;Dels=0.00;FS=6.493;HRun=0;HaplotypeScore=0.9998;MQ=56;MQ0=0;MQRankSum=-1.934;QD=11.55;ReadPosRankSum=-0.481;SB=-345.48;TI=NM_001159576,NM_001038,NM_001159575;GI=SCNN1A,SCNN1A,SCNN1A;FC=Missense_A393T,Missense_A334T,Missense_A357T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,27:51:99:619,0,672:56:99:0.529 chr12 6560473 rs2532502 A G 4983.65 PASS DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;QD=27.23;SB=-3463.90;TI=NR_015382,NM_001242;GI=LOC678655,CD27;FC=Silent,Missense_H233R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,183:183:99:4984,361,0:54:99:1.000 chr12 6619284 rs714774 C G 1411.89 PASS BaseQRankSum=-0.135;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=2.646;QD=13.07;ReadPosRankSum=2.499;SB=-928.37;TI=NM_014865;GI=NCAPD2;FC=Missense_Q83E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,57:108:99:1442,0,1199:54:99:0.528 chr12 6631169 rs917634 C A 1353.20 PASS BaseQRankSum=0.149;DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6488;MQ=53;MQ0=0;MQRankSum=1.737;QD=11.18;ReadPosRankSum=0.671;SB=-632.52;TI=NM_014865;GI=NCAPD2;FC=Synonymous_I640I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,53:121:99:1383,0,1797:53:99:0.438 chr12 6637845 rs2072374 T C 1717.45 PASS BaseQRankSum=2.544;DP=152;Dels=0.00;FS=0.632;HRun=1;HaplotypeScore=8.9643;MQ=56;MQ0=0;MQRankSum=1.228;QD=11.30;ReadPosRankSum=1.725;SB=-721.27;TI=NM_014865;GI=NCAPD2;FC=Unknown_1100;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,68:152:99:1747,0,2198:56:99:0.447 chr12 6639088 rs1043262 A G 2536.40 PASS BaseQRankSum=-0.005;DP=238;Dels=0.00;FS=2.982;HRun=2;HaplotypeScore=6.4126;MQ=53;MQ0=0;MQRankSum=1.172;QD=10.66;ReadPosRankSum=-0.782;SB=-1599.60;TI=NM_014865;GI=NCAPD2;FC=Synonymous_V1267V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,116:238:99:2566,0,2874:53:99:0.489 chr12 6639981 rs2240871 C G 2024.93 PASS BaseQRankSum=0.684;DP=125;Dels=0.00;FS=2.447;HRun=0;HaplotypeScore=12.8560;MQ=54;MQ0=0;MQRankSum=2.464;QD=16.20;ReadPosRankSum=-0.122;SB=-747.50;TI=NM_014865;GI=NCAPD2;FC=Missense_T1321S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,70:125:99:2055,0,1420:54:99:0.560 chr12 6925149 rs10744715 C T 2622.42 PASS DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5343;MQ=55;MQ0=0;QD=31.98;SB=-714.07;TI=NM_000616,NM_001195016,NM_001195017,NM_001195015,NM_001195014;GI=CD4,CD4,CD4,CD4,CD4;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2655,196,0:55:99:1.000 chr12 6926363 rs1055141 T C 3143.44 PASS DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1443;MQ=56;MQ0=0;QD=26.87;SB=-1836.27;TI=NM_000616,NM_001195016,NM_001195017,NM_001195015,NM_001195014;GI=CD4,CD4,CD4,CD4,CD4;FC=Synonymous_S341S,Synonymous_S68S,Synonymous_S68S,Synonymous_S68S,Synonymous_S162S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:117:99:3176,232,0:56:99:1.000 chr12 6928075 rs12821756 T C 3100.76 PASS DP=115;Dels=0.01;FS=0.000;HRun=2;HaplotypeScore=13.6317;MQ=45;MQ0=0;QD=26.96;SB=-1854.28;TI=NM_000616,NM_001195016,NM_001195017,NM_001195015,NM_001195014;GI=CD4,CD4,CD4,CD4,CD4;FC=Synonymous_C447C,Synonymous_C174C,Synonymous_C174C,Synonymous_C174C,Synonymous_C268C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:114:99:3134,235,0:45:99:1.000 chr12 6977324 rs11447131 G GC 1600.24 PASS DP=44;FS=0.000;HRun=4;HaplotypeScore=62.3527;MQ=59;MQ0=0;QD=36.37;SB=-112.40;TI=NM_001159287,NM_000365,NR_027483;GI=TPI1,TPI1,TPI1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,43:44:99:1642,132,0:59:99:0.977 chr12 6980075 . G GA 191.61 R8 BaseQRankSum=0.312;DP=58;FS=1.141;HRun=13;HaplotypeScore=148.2792;MQ=57;MQ0=0;MQRankSum=0.507;QD=3.30;ReadPosRankSum=0.351;SB=-98.85;TI=NM_001159287,NM_000365,NR_027483;GI=TPI1,TPI1,TPI1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,15:58:99:231,0,612:57:99:0.300 chr12 7045891 . ACAGCAGCAGCAG A 4044.89 R8 BaseQRankSum=-0.369;DP=170;FS=2.285;HRun=0;HaplotypeScore=203.7698;MQ=50;MQ0=1;MQRankSum=-2.358;QD=23.79;ReadPosRankSum=-1.761;SB=-1933.28;TI=NM_001007026,NM_001940;GI=ATN1,ATN1;FC=4AA_Deletion,4AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,38:169:99:4045,0,11233:50:99:0.236 chr12 7047143 rs7969685 C A 1327.92 PASS BaseQRankSum=-1.413;DP=130;Dels=0.00;FS=2.255;HRun=0;HaplotypeScore=4.3262;MQ=58;MQ0=0;MQRankSum=1.184;QD=10.21;ReadPosRankSum=-1.361;SB=-716.51;TI=NM_001007026,NM_001940;GI=ATN1,ATN1;FC=Synonymous_R810R,Synonymous_R810R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,60:130:99:1358,0,1798:58:99:0.462 chr12 7065576 rs2110071 G A 2270.56 PASS DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=51;MQ0=0;QD=30.68;SB=-1381.44;TI=NM_080548,NM_002831,NM_080549;GI=PTPN6,PTPN6,PTPN6;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:74:99:2304,169,0:51:99:1.000 chr12 7065635 rs2110072 T C 2952.47 PASS DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=51;MQ0=0;QD=26.84;SB=-1942.19;TI=NM_080548,NM_002831,NM_080549;GI=PTPN6,PTPN6,PTPN6;FC=Synonymous_G328G,Synonymous_G326G,Synonymous_G326G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:110:99:2985,217,0:51:99:1.000 chr12 7080210 . A AG 4869.11 PASS DP=122;FS=0.000;HRun=1;HaplotypeScore=545.8371;MQ=59;MQ0=0;QD=39.91;SB=-1784.65;TI=NM_006331;GI=EMG1;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:4869,367,0:59:99:1.000 chr12 7080212 rs17857448 T C 3433.04 PASS BaseQRankSum=1.705;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8914;MQ=59;MQ0=0;MQRankSum=1.622;QD=27.25;ReadPosRankSum=0.330;SB=-1806.50;TI=NM_006331;GI=EMG1;FC=Synonymous_S42S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,125:126:99:3433,247,0:59:99:0.992 chr12 7842932 rs12819884 C T 9090.03 PASS DP=302;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.8895;MQ=54;MQ0=0;QD=30.10;SB=-5757.90;TI=NM_020634;GI=GDF3;FC=Missense_G213R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,302:302:99:9090,662,0:54:99:1.000 chr12 8757481 rs2028373 G A 509.00 PASS BaseQRankSum=1.474;DP=35;Dels=0.00;FS=3.151;HRun=0;HaplotypeScore=6.2806;MQ=46;MQ0=0;MQRankSum=0.248;QD=14.54;ReadPosRankSum=0.944;SB=-282.10;TI=NM_020661;GI=AICDA;FC=Synonymous_H155H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,19:35:99:539,0,312:46:99:0.543 chr12 8757522 rs77429608 C A 9.08 LowGQX;LowVariantFreq;SB BaseQRankSum=0.854;DP=29;Dels=0.00;FS=6.576;HRun=13;HaplotypeScore=25.9567;MQ=47;MQ0=0;MQRankSum=-0.095;QD=0.31;ReadPosRankSum=-1.170;SB=-0.01;TI=NM_020661;GI=AICDA;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,4:29:38.50:38,0,605:47:9:0.138 chr12 8757522 . C CA 292.46 LowGQ;R8 BaseQRankSum=-0.532;DP=29;FS=4.508;HRun=13;HaplotypeScore=187.9340;MQ=47;MQ0=0;MQRankSum=0.252;QD=10.08;ReadPosRankSum=0.028;SB=-126.39;TI=NM_020661;GI=AICDA;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,14:29:26.06:331,0,26:47:26:0.609 chr12 9220823 . GA G 52.07 LowVariantFreq;R8 BaseQRankSum=-1.215;DP=46;FS=0.000;HRun=12;HaplotypeScore=131.4039;MQ=50;MQ0=0;MQRankSum=0.338;QD=1.13;ReadPosRankSum=-0.714;SB=-33.61;TI=NM_000014;GI=A2M;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,8:46:91.10:91,0,754:50:52:0.195 chr12 9232268 rs669 T C 3882.36 PASS DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=50;MQ0=0;QD=25.54;SB=-2925.04;TI=NM_000014;GI=A2M;FC=Missense_I1000V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,152:152:99:3882,271,0:50:99:1.000 chr12 9243847 . C A 5.92 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=0.731;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=40;MQ0=2;MQRankSum=0.731;QD=0.85;ReadPosRankSum=-0.731;SB=0.01;TI=NM_000014;GI=A2M;FC=Missense_A807S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,1:7:34.63:35,0,39:40:6:0.143 chr12 9248233 rs226405 T C 4954.84 PASS DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8924;MQ=46;MQ0=0;QD=30.03;SB=-2839.34;TI=NM_000014;GI=A2M;FC=Missense_N639D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,164:165:99:4955,379,0:46:99:1.000 chr12 9303296 rs10842971 A T 1422.02 PASS BaseQRankSum=2.285;DP=97;Dels=0.00;FS=1.748;HRun=1;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=-0.710;QD=14.66;ReadPosRankSum=1.453;SB=-810.30;TI=NM_002864;GI=PZP;FC=Missense_I1443N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,58:97:99:1452,0,977:52:99:0.598 chr12 9305473 rs10771357 T C 1056.08 PASS BaseQRankSum=1.104;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2032;MQ=51;MQ0=0;MQRankSum=0.106;QD=11.00;ReadPosRankSum=-1.104;SB=-621.31;TI=NM_002864;GI=PZP;FC=Synonymous_Q1356Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,46:96:99:1086,0,1115:51:99:0.479 chr12 9307373 rs2377741 T G 3292.17 PASS DP=117;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.5246;MQ=52;MQ0=2;QD=28.14;SB=-1931.02;TI=NM_002864;GI=PZP;FC=Missense_T1205P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,117:117:99:3292,241,0:52:99:1.000 chr12 9315209 rs10771381 A G 1113.37 PASS BaseQRankSum=2.004;DP=107;Dels=0.00;FS=9.698;HRun=1;HaplotypeScore=1.7825;MQ=57;MQ0=0;MQRankSum=1.922;QD=10.41;ReadPosRankSum=-0.142;SB=-396.53;TI=NM_002864;GI=PZP;FC=Synonymous_S924S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,44:107:99:1143,0,1611:57:99:0.411 chr12 9316773 rs3213831 T C 1670.92 PASS BaseQRankSum=3.944;DP=133;Dels=0.00;FS=2.242;HRun=0;HaplotypeScore=3.6717;MQ=49;MQ0=0;MQRankSum=2.287;QD=12.56;ReadPosRankSum=0.788;SB=-974.55;TI=NM_002864;GI=PZP;FC=Missense_N857S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,72:133:99:1701,0,1324:49:99:0.541 chr12 9317885 rs2277412;rs72656611 G A 228.80 LowDP BaseQRankSum=0.718;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47;MQ0=0;MQRankSum=-3.085;QD=12.04;ReadPosRankSum=0.127;SB=-148.98;TI=NM_002864;GI=PZP;FC=Synonymous_S779S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,12:19:99:259,0,208:47:99:0.632 chr12 9345273 rs10771407 A G 3723.10 PASS DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1753;MQ=56;MQ0=0;QD=30.52;SB=-2312.59;TI=NM_002864;GI=PZP;FC=Synonymous_G439G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3723,274,0:56:99:1.000 chr12 9833524 rs3764022 C G 523.83 PASS BaseQRankSum=1.421;DP=61;Dels=0.00;FS=0.985;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=-0.766;QD=8.59;ReadPosRankSum=0.647;SB=-309.85;TI=NM_013269,NR_036693,NM_001197318,NM_001004419,NM_001197319,NM_001197317;GI=CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D;FC=Missense_L23V,Silent,Missense_L23V,Missense_L23V,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,23:61:99:554,0,919:55:99:0.377 chr12 9833628 rs3764021 C T 799.36 PASS BaseQRankSum=1.128;DP=58;Dels=0.00;FS=5.470;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.895;QD=13.78;ReadPosRankSum=-0.537;SB=-499.26;TI=NM_013269,NR_036693,NM_001197318,NM_001004419,NM_001197319,NM_001197317;GI=CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D,CLEC2D;FC=Synonymous_S57S,Silent,Synonymous_S57S,Synonymous_S57S,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,30:58:99:829,0,721:54:99:0.517 chr12 10271055 rs7959451 T C 1548.99 PASS DP=58;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9841;MQ=50;MQ0=0;QD=26.71;SB=-862.53;TI=NM_197948,NM_197947,NM_197949,NM_022570,NM_197950;GI=CLEC7A,CLEC7A,CLEC7A,CLEC7A,CLEC7A;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1582,114,0:50:99:1.000 chr12 10525740 rs1049172 C T 1617.04 PASS BaseQRankSum=3.032;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=48;MQ0=0;MQRankSum=-0.386;QD=14.70;ReadPosRankSum=-0.907;SB=-1123.37;TI=NM_007360,NM_001199805;GI=KLRK1,KLRK1;FC=Synonymous_T208T,Synonymous_T208T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,67:110:99:1647,0,937:48:99:0.609 chr12 10532326 rs2255336 T C 2090.57 PASS DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=30.30;SB=-1233.11;TI=NM_007360,NM_001199805;GI=KLRK1,KLRK1;FC=Missense_T72A,Missense_T72A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:2124,160,0:52:99:1.000 chr12 10962115 rs3741845 A G 7478.18 PASS DP=253;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7038;MQ=56;MQ0=0;QD=29.56;SB=-3737.72;TI=NM_023917;GI=TAS2R9;FC=Missense_V187A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,253:253:99:7478,542,0:56:99:1.000 chr12 11138683 rs10772397 C T 4476.16 PASS BaseQRankSum=1.332;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7272;MQ=55;MQ0=0;MQRankSum=0.009;QD=31.30;ReadPosRankSum=0.610;SB=-2555.24;TI=NM_001098538,NM_006250,NM_176890;GI=PRR4,PRH1,TAS2R50;FC=Silent,Silent,Synonymous_P259P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,141:143:99:4476,271,0:55:99:0.986 chr12 11138852 rs1376251 C T 5267.31 PASS DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5976;MQ=56;MQ0=0;QD=32.12;SB=-2304.80;TI=NM_001098538,NM_006250,NM_176890;GI=PRR4,PRH1,TAS2R50;FC=Silent,Silent,Missense_C203Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,162:164:99:5267,388,0:56:99:1.000 chr12 11174753 rs1868769 G A 5791.75 PASS DP=184;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=9.8350;MQ=55;MQ0=3;QD=31.48;SB=-2830.73;TI=NM_001098538,NM_006250,NM_176888;GI=PRR4,PRH1,TAS2R19;FC=Silent,Silent,Synonymous_L140L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,183:184:99:5792,424,0:55:99:1.000 chr12 11244166 rs35720106 G C 6047.20 PASS DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=56;MQ0=0;QD=32.17;SB=-3177.73;TI=NM_001098538,NM_006250,NM_176884;GI=PRR4,PRH1,TAS2R43;FC=Silent,Silent,Synonymous_T221T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,187:188:99:6047,448,0:56:99:1.000 chr12 11244194 rs71443637 T C 6836.91 PASS DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4621;MQ=56;MQ0=0;QD=34.18;SB=-3452.22;TI=NM_001098538,NM_006250,NM_176884;GI=PRR4,PRH1,TAS2R43;FC=Silent,Silent,Missense_H212R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,199:200:99:6837,509,0:56:99:1.000 chr12 11244725 rs68157013 C G 6138.04 PASS BaseQRankSum=0.292;DP=215;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7865;MQ=55;MQ0=0;MQRankSum=4.493;QD=28.55;ReadPosRankSum=3.687;SB=-3648.29;TI=NM_001098538,NM_006250,NM_176884;GI=PRR4,PRH1,TAS2R43;FC=Silent,Silent,Missense_W35S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:7,207:215:99:6138,319,0:55:99:0.967 chr12 11420333 rs3842295 AG A 2050.61 PASS DP=53;FS=0.000;HRun=3;HaplotypeScore=325.0686;MQ=45;MQ0=0;QD=38.69;SB=-972.64;TI=NM_006249;GI=PRB3;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,48:52:99:2093,157,0:45:99:0.906 chr12 12301898 rs2302685 C T 1873.09 PASS DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.82;SB=-888.17;TI=NM_002336;GI=LRP6;FC=Missense_V1062I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:1906,135,0:57:99:1.000 chr12 12871099 rs2066827 T G 1012.69 PASS BaseQRankSum=0.062;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1658;MQ=58;MQ0=0;MQRankSum=0.145;QD=13.15;ReadPosRankSum=0.395;SB=-297.05;TI=NM_004064;GI=CDKN1B;FC=Missense_V109G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,37:77:99:1043,0,1086:58:99:0.487 chr12 13716638 rs1806191 G A 3270.85 PASS BaseQRankSum=1.465;DP=225;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.5920;MQ=56;MQ0=0;MQRankSum=1.314;QD=14.54;ReadPosRankSum=-1.105;SB=-1862.02;TI=NM_000834;GI=GRIN2B;FC=Synonymous_H1178H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,128:225:99:3271,0,2526:56:99:0.569 chr12 13906391 rs1124894 G A 2550.56 PASS BaseQRankSum=0.861;DP=184;Dels=0.00;FS=1.160;HRun=0;HaplotypeScore=2.8661;MQ=56;MQ0=0;MQRankSum=2.381;QD=13.86;ReadPosRankSum=-0.327;SB=-1626.19;TI=NM_000834;GI=GRIN2B;FC=Synonymous_P290P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,102:184:99:2581,0,2045:56:99:0.557 chr12 14018777 rs7301328 G C 445.39 PASS BaseQRankSum=1.289;DP=42;Dels=0.00;FS=5.897;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.480;QD=10.60;ReadPosRankSum=0.253;SB=-213.49;TI=NM_000834;GI=GRIN2B;FC=Synonymous_P122P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,19:42:99:475,0,694:60:99:0.452 chr12 14781678 rs3217210 G GA 1286.80 R8 BaseQRankSum=-0.102;DP=53;FS=0.000;HRun=9;HaplotypeScore=128.4620;MQ=57;MQ0=0;MQRankSum=0.102;QD=24.28;ReadPosRankSum=0.034;SB=-462.40;TI=NM_004963;GI=GUCY2C;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:7,40:53:99:1329,121,0:57:99:0.851 chr12 14794062 rs10772800 G A 3420.43 PASS DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7502;MQ=51;MQ0=0;QD=26.31;SB=-2442.52;TI=NM_004963;GI=GUCY2C;FC=Synonymous_I674I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:3420,244,0:51:99:1.000 chr12 14829893 rs1420635 A C 2083.53 PASS DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=28.94;SB=-1223.37;TI=NM_004963;GI=GUCY2C;FC=Missense_F281L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:2117,153,0:52:99:1.000 chr12 14834421 rs66986132 GA G 3336.85 PASS DP=95;FS=0.000;HRun=5;HaplotypeScore=397.7186;MQ=56;MQ0=0;QD=35.12;SB=-1629.54;TI=NM_004963;GI=GUCY2C;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,91:95:99:3337,272,0:56:99:0.958 chr12 15652537 . C T 565.76 PASS BaseQRankSum=2.075;DP=47;Dels=0.00;FS=1.157;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=0.968;QD=12.04;ReadPosRankSum=-0.138;SB=-299.77;TI=NM_030667,NM_002848;GI=PTPRO,PTPRO;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,23:47:99:596,0,592:55:99:0.489 chr12 15656832 rs4764199 T A 847.98 SB DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=38.54;SB=-0.01;TI=NM_030667,NM_002848;GI=PTPRO,PTPRO;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,22:22:66.22:881,66,0:60:66:1.000 chr12 18435398 . GCCC G 2554.44 PASS BaseQRankSum=0.222;DP=138;FS=3.284;HRun=4;HaplotypeScore=114.9810;MQ=55;MQ0=0;MQRankSum=-1.505;QD=18.51;ReadPosRankSum=0.648;SB=-1208.21;TI=NM_004570;GI=PIK3C2G;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,49:138:99:2593,0,5022:55:99:0.360 chr12 18435452 rs11044004 C T 968.61 PASS BaseQRankSum=0.950;DP=118;Dels=0.00;FS=5.767;HRun=0;HaplotypeScore=5.5434;MQ=59;MQ0=0;MQRankSum=0.979;QD=8.21;ReadPosRankSum=-2.867;SB=-407.14;TI=NM_004570;GI=PIK3C2G;FC=Missense_P146L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,36:118:99:999,0,2493:59:99:0.305 chr12 18499777 rs10770357 C G 3054.51 PASS DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=56;MQ0=0;QD=32.49;SB=-916.57;TI=NM_004570;GI=PIK3C2G;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:3088,235,0:56:99:1.000 chr12 18649057 rs12312266 C T 3963.73 PASS DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3265;MQ=54;MQ0=0;QD=29.80;SB=-2473.94;TI=NM_004570;GI=PIK3C2G;FC=Missense_P911L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:3964,286,0:54:99:1.000 chr12 18691253 rs12315010 C T 1151.21 PASS BaseQRankSum=-0.551;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.3271;MQ=56;MQ0=0;MQRankSum=1.160;QD=11.99;ReadPosRankSum=-0.764;SB=-742.49;TI=NM_004570;GI=PIK3C2G;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,51:96:99:1181,0,1042:56:99:0.531 chr12 18719972 rs12099555 T G 567.05 PASS BaseQRankSum=1.524;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-2.128;QD=13.50;ReadPosRankSum=-1.373;SB=-205.84;TI=NM_004570;GI=PIK3C2G;FC=Missense_V1290G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,22:42:99:597,0,596:56:99:0.524 chr12 20864356 rs7963279 C T 877.40 PASS BaseQRankSum=2.237;DP=94;Dels=0.00;FS=7.407;HRun=0;HaplotypeScore=0.9998;MQ=52;MQ0=0;MQRankSum=1.251;QD=9.33;ReadPosRankSum=0.727;SB=-263.30;TI=NM_001145945,NM_001145946,NM_001145944,NM_017435;GI=SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1;FC=Synonymous_S147S,Synonymous_S147S,Synonymous_S29S,Synonymous_S147S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,35:94:99:907,0,1425:52:99:0.372 chr12 20893108 rs2271656 C T 1509.83 PASS BaseQRankSum=2.006;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4702;MQ=58;MQ0=0;MQRankSum=-0.669;QD=11.61;ReadPosRankSum=-1.127;SB=-431.80;TI=NM_001145945,NM_001145946,NM_001145944,NM_017435;GI=SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,54:130:99:1540,0,2204:58:99:0.415 chr12 20903757 rs10841611 T C 2055.32 PASS BaseQRankSum=1.530;DP=166;Dels=0.00;FS=12.195;HRun=0;HaplotypeScore=1.8888;MQ=51;MQ0=0;MQRankSum=0.429;QD=12.38;ReadPosRankSum=-3.421;SB=-1302.88;TI=NM_001145945,NM_001145946,NM_001145944,NM_017435;GI=SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1;FC=Silent,Synonymous_H649H,Synonymous_H531H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,84:166:99:2085,0,1991:51:99:0.509 chr12 20905250 rs6487138 C T 1449.25 PASS BaseQRankSum=2.296;DP=145;Dels=0.00;FS=4.060;HRun=1;HaplotypeScore=5.4297;MQ=54;MQ0=0;MQRankSum=-0.213;QD=9.99;ReadPosRankSum=2.934;SB=-899.14;TI=NM_001145945,NM_001145946,NM_001145944,NM_017435;GI=SLCO1C1,SLCO1C1,SLCO1C1,SLCO1C1;FC=Synonymous_L594L,Missense_S677F,Missense_S559F,Synonymous_L643L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,63:145:99:1479,0,2325:54:99:0.434 chr12 21011480 rs4149117 T G 6978.17 PASS BaseQRankSum=-1.285;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6794;MQ=56;MQ0=0;MQRankSum=-0.561;QD=29.69;ReadPosRankSum=1.201;SB=-3600.09;TI=NM_019844;GI=SLCO1B3;FC=Missense_S112A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,232:235:99:6978,464,0:56:99:0.991 chr12 21013948 rs3764009 C T 3541.33 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=31.34;SB=-1870.85;TI=NM_019844;GI=SLCO1B3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3541,259,0:57:99:1.000 chr12 21015760 rs7311358 G A 3012.87 PASS DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49;MQ0=0;QD=27.90;SB=-1644.39;TI=NM_019844;GI=SLCO1B3;FC=Missense_M233I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:3046,220,0:49:99:1.000 chr12 21036411 rs2053098 A G 8272.93 PASS DP=300;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8374;MQ=55;MQ0=0;QD=27.58;SB=-5649.71;TI=NM_019844;GI=SLCO1B3;FC=Synonymous_A519A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,299:300:99:8273,593,0:55:99:1.000 chr12 21054369 rs3764006 G A 1369.09 PASS DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=26.84;SB=-852.87;TI=NM_019844;GI=SLCO1B3;FC=Synonymous_G611G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:99:1402,102,0:57:99:1.000 chr12 21327652 rs34728625 T TA 466.37 R8 BaseQRankSum=-1.337;DP=49;FS=3.842;HRun=14;HaplotypeScore=154.1605;MQ=54;MQ0=0;MQRankSum=-0.762;QD=9.52;ReadPosRankSum=0.072;SB=-112.34;TI=NM_006446;GI=SLCO1B1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,20:49:74.06:505,0,74:54:74:0.556 chr12 21331599 rs4149057 T C 3982.93 PASS DP=133;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=16.0360;MQ=52;MQ0=0;QD=29.95;SB=-1690.50;TI=NM_006446;GI=SLCO1B1;FC=Synonymous_L191L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:132:99:3983,289,0:52:99:1.000 chr12 21457514 rs3833795 TA T 63.59 LowVariantFreq;R8 BaseQRankSum=-0.791;DP=42;FS=0.000;HRun=10;HaplotypeScore=50.5831;MQ=59;MQ0=0;MQRankSum=-1.393;QD=1.51;ReadPosRankSum=1.544;SB=-29.20;TI=NM_021094,NM_134431;GI=SLCO1A2,SLCO1A2;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,7:42:99:103,0,724:59:64:0.189 chr12 21689882 rs10431213 T A 4981.67 PASS DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6812;MQ=56;MQ0=0;QD=30.38;SB=-2433.83;TI=NM_021957;GI=GYS2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,164:164:99:4982,361,0:56:99:1.000 chr12 21712574 rs1871137 C T 3945.04 PASS DP=142;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8888;MQ=52;MQ0=0;QD=27.78;SB=-2765.71;TI=NM_021957;GI=GYS2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,142:142:99:3945,292,0:52:99:1.000 chr12 21713402 rs2306180 T C 2992.64 PASS DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7776;MQ=54;MQ0=0;QD=29.93;SB=-1559.75;TI=NM_021957;GI=GYS2;FC=Missense_M363V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:100:99:3026,220,0:54:99:1.000 chr12 21791410 . TAA T,TA 1054.17 R8 BaseQRankSum=-1.536;DP=61;FS=0.000;HaplotypeScore=284.9578;MQ=55;MQ0=1;MQRankSum=1.536;QD=17.28;ReadPosRankSum=-0.883;SB=-395.87;TI=NM_001174097,NM_002300;GI=LDHB,LDHB;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:14,8,0:60:99:1132,725,794,293,0,167:55:99:0.364 chr12 21797029 rs1650294 A G 4448.80 PASS BaseQRankSum=2.400;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=55;MQ0=0;MQRankSum=2.335;QD=29.66;ReadPosRankSum=0.172;SB=-2406.60;TI=NM_001174097,NM_002300;GI=LDHB,LDHB;FC=Synonymous_T87T,Synonymous_T87T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,148:150:99:4449,325,0:55:99:0.987 chr12 22017422 rs697250 A G 5033.70 PASS DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7880;MQ=56;MQ0=0;QD=29.61;SB=-2933.62;TI=NM_020297,NM_005691,NM_020298;GI=ABCC9,ABCC9,ABCC9;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:170:99:5034,364,0:56:99:1.000 chr12 22035738 . G A 1155.17 PASS BaseQRankSum=-0.577;DP=95;Dels=0.00;FS=0.775;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=2.134;QD=12.16;ReadPosRankSum=0.331;SB=-738.16;TI=NM_020297,NM_005691,NM_020298;GI=ABCC9,ABCC9,ABCC9;FC=Missense_R661C,Missense_R661C,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,49:95:99:1185,0,1053:52:99:0.516 chr12 22063115 rs10770865 A G 1504.81 PASS DP=58;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7802;MQ=52;MQ0=0;QD=25.94;SB=-1055.34;TI=NM_020297,NM_005691,NM_020298;GI=ABCC9,ABCC9,ABCC9;FC=Synonymous_P432P,Synonymous_P432P,Synonymous_P432P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1538,108,0:52:99:1.000 chr12 22063749 rs4762720 T C 2106.62 PASS DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=36.32;SB=-353.18;TI=NM_020297,NM_005691,NM_020298;GI=ABCC9,ABCC9,ABCC9;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:2140,163,0:59:99:1.000 chr12 22068849 rs3759236 G T 2090.35 PASS BaseQRankSum=-0.736;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-1.732;QD=28.63;ReadPosRankSum=-1.353;SB=-962.35;TI=NM_020297,NM_005691,NM_020298;GI=ABCC9,ABCC9,ABCC9;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,72:73:99:2123,119,0:58:99:0.986 chr12 25054891 rs2291894 G A 2446.11 PASS BaseQRankSum=-1.202;DP=210;Dels=0.00;FS=1.078;HRun=0;HaplotypeScore=5.6410;MQ=49;MQ0=0;MQRankSum=2.687;QD=11.65;ReadPosRankSum=-1.063;SB=-1476.10;TI=NM_001178094,NM_001178093,NM_005504,NM_001178091,NM_001178092;GI=BCAT1,BCAT1,BCAT1,BCAT1,BCAT1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,105:210:99:2476,0,2306:49:99:0.502 chr12 25368462 rs4362222 C T 6648.96 PASS BaseQRankSum=2.279;DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8857;MQ=55;MQ0=0;MQRankSum=-0.278;QD=30.78;ReadPosRankSum=0.779;SB=-2751.51;TI=NM_033360,NM_004985;GI=KRAS,KRAS;FC=Synonymous_R161R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,214:216:99:6649,452,0:55:99:0.991 chr12 26275555 rs11048413 G A 196.96 LowGQ;LowDP BaseQRankSum=-0.747;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=60;MQ0=0;MQRankSum=0.747;QD=21.88;ReadPosRankSum=0.747;SB=-39.32;TI=NM_030762;GI=BHLHE41;FC=Missense_A298V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,7:9:19.58:227,0,20:60:20:0.875 chr12 31240862 rs7308754;rs72640169;rs76649600 A T 2563.33 PASS BaseQRankSum=3.323;DP=356;Dels=0.00;FS=3.147;HRun=0;HaplotypeScore=5.4095;MQ=33;MQ0=143;MQRankSum=-2.116;QD=7.20;ReadPosRankSum=-0.097;SB=-1363.15;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:224,132:356:99:2593,0,2462:33:99:0.371 chr12 31240925 rs7308773 A G 2053.80 PASS BaseQRankSum=2.135;DP=196;Dels=0.00;FS=0.538;HRun=0;HaplotypeScore=2.9942;MQ=44;MQ0=1;MQRankSum=-3.077;QD=10.48;ReadPosRankSum=0.841;SB=-1037.47;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,88:196:99:2084,0,2590:44:99:0.449 chr12 31242358 . G A 4.87 LowGQX;LowVariantFreq;SB BaseQRankSum=1.027;DP=200;Dels=0.00;FS=4.086;HRun=0;HaplotypeScore=9.2201;MQ=54;MQ0=2;MQRankSum=-3.816;QD=0.02;ReadPosRankSum=-2.133;SB=-0.01;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Missense_V272M,Missense_V272M,Missense_V272M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:185,15:200:33.15:33,0,4701:54:5:0.075 chr12 31242362 rs3950588 A G 10.73 LowVariantFreq;SB BaseQRankSum=2.759;DP=201;Dels=0.00;FS=5.741;HRun=0;HaplotypeScore=8.3260;MQ=54;MQ0=3;MQRankSum=-3.420;QD=0.05;ReadPosRankSum=-2.719;SB=-0.01;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Missense_K273R,Missense_K273R,Missense_K273R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:186,15:201:40.34:40,0,4746:54:11:0.075 chr12 31242399 rs3881298 T C 2152.34 PASS BaseQRankSum=0.697;DP=189;Dels=0.00;FS=2.672;HRun=0;HaplotypeScore=7.2446;MQ=53;MQ0=7;MQRankSum=2.579;QD=11.39;ReadPosRankSum=2.222;SB=-1130.99;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Synonymous_C285C,Synonymous_C285C,Synonymous_C285C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,97:189:99:2182,0,2292:53:99:0.513 chr12 31244703 rs74439745 C T 562.36 PASS BaseQRankSum=0.866;DP=289;Dels=0.00;FS=1.306;HRun=0;HaplotypeScore=7.3448;MQ=39;MQ0=59;MQRankSum=-9.470;QD=1.95;ReadPosRankSum=2.103;SB=-253.86;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Synonymous_A380A,Synonymous_A380A,Synonymous_A380A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:231,58:289:99:592,0,4487:39:99:0.201 chr12 31249861 rs2075322 C G 866.26 PASS BaseQRankSum=0.499;DP=84;Dels=0.00;FS=4.237;HRun=0;HaplotypeScore=1.8938;MQ=48;MQ0=0;MQRankSum=-1.811;QD=10.31;ReadPosRankSum=-1.218;SB=-482.92;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Missense_Q567E,Missense_Q567E,Missense_Q567E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,38:84:99:896,0,1058:48:99:0.452 chr12 31253995 rs1046456 C T 1610.73 PASS BaseQRankSum=1.765;DP=130;Dels=0.00;FS=2.250;HRun=1;HaplotypeScore=7.3816;MQ=53;MQ0=1;MQRankSum=0.539;QD=12.39;ReadPosRankSum=0.864;SB=-1037.09;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Synonymous_L661L,Synonymous_L661L,Synonymous_L661L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,68:130:99:1641,0,1469:53:99:0.527 chr12 31255227 . A G 158.90 PASS BaseQRankSum=1.196;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=2;MQRankSum=-2.441;QD=1.91;ReadPosRankSum=-0.641;SB=-73.61;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Synonymous_A751A,Synonymous_A751A,Synonymous_A701A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,17:83:99:189,0,1793:50:99:0.207 chr12 31255405 rs77340729 C T 971.26 PASS BaseQRankSum=1.123;DP=84;Dels=0.00;FS=1.891;HRun=1;HaplotypeScore=1.8920;MQ=51;MQ0=5;MQRankSum=0.525;QD=11.56;ReadPosRankSum=-0.662;SB=-586.58;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Synonymous_L772L,Synonymous_L772L,Synonymous_L722L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,40:84:99:1001,0,1011:51:99:0.476 chr12 31256546 rs1046457 G A 1217.64 PASS BaseQRankSum=0.599;DP=98;Dels=0.00;FS=1.706;HRun=0;HaplotypeScore=4.4430;MQ=50;MQ0=3;MQRankSum=1.947;QD=12.42;ReadPosRankSum=0.220;SB=-632.15;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Missense_V858I,Missense_R856H,Missense_V808I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,52:98:99:1248,0,1113:50:99:0.531 chr12 31256905 rs1046458 T C 922.97 PASS BaseQRankSum=1.162;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8872;MQ=46;MQ0=3;MQRankSum=-0.943;QD=10.73;ReadPosRankSum=1.609;SB=-500.94;TI=NM_030653,NM_152438,NM_004399;GI=DDX11,DDX11,DDX11;FC=Silent,Missense_C951R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,43:86:99:953,0,955:46:99:0.500 chr12 32369288 . G A 1828.04 PASS BaseQRankSum=-0.211;DP=164;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.6715;MQ=57;MQ0=0;MQRankSum=2.112;QD=11.15;ReadPosRankSum=0.778;SB=-1120.19;TI=NM_001003398,NM_001714;GI=BICD1,BICD1;FC=Synonymous_G107G,Synonymous_G107G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,77:164:99:1858,0,2159:57:99:0.470 chr12 32735236 rs904582 C T 2919.23 PASS DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=29.49;SB=-1201.42;TI=NM_139241;GI=FGD4;FC=Synonymous_D145D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,99:99:99:2952,214,0:54:99:1.000 chr12 32764184 rs10844253 G A 1192.38 PASS BaseQRankSum=-0.246;DP=109;Dels=0.00;FS=0.722;HRun=2;HaplotypeScore=0.8667;MQ=52;MQ0=0;MQRankSum=1.304;QD=10.94;ReadPosRankSum=0.654;SB=-663.73;TI=NM_139241;GI=FGD4;FC=Synonymous_R435R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,50:109:99:1222,0,1345:52:99:0.459 chr12 32777362 rs11052110 G A 452.75 PASS BaseQRankSum=-0.438;DP=57;Dels=0.00;FS=1.073;HRun=0;HaplotypeScore=24.3493;MQ=48;MQ0=0;MQRankSum=0.687;QD=7.94;ReadPosRankSum=-1.828;SB=-270.15;TI=NM_139241;GI=FGD4;FC=Synonymous_A506A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,21:57:99:483,0,871:48:99:0.368 chr12 32778581 rs11052113 T C 744.50 PASS BaseQRankSum=0.846;DP=56;Dels=0.00;FS=5.557;HRun=3;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=1.273;QD=13.29;ReadPosRankSum=0.041;SB=-333.89;TI=NM_139241;GI=FGD4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,30:56:99:774,0,708:57:99:0.536 chr12 33021934 rs1046116 A G 2221.35 PASS BaseQRankSum=0.165;DP=168;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1896;MQ=55;MQ0=0;MQRankSum=0.080;QD=13.22;ReadPosRankSum=1.957;SB=-1504.06;TI=NM_001005242,NM_004572;GI=PKP2,PKP2;FC=Missense_L366P,Missense_L366P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,94:168:99:2251,0,1701:55:99:0.566 chr12 38712142 rs6582584 C G 1980.61 PASS DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=27.51;SB=-1231.25;TI=NM_001013620;GI=ALG10B;FC=Missense_A84G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:2014,144,0:54:99:1.000 chr12 38715000 rs35518352 A G 1588.43 PASS DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8938;MQ=58;MQ0=0;QD=29.97;SB=-711.78;TI=NM_001013620;GI=ALG10B;FC=Synonymous_Q469Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1621,120,0:58:99:1.000 chr12 40619082 rs2256408 G A 2129.03 PASS DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.99;SB=-1189.17;TI=NM_198578;GI=LRRK2;FC=Missense_R50H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:2162,157,0:55:99:1.000 chr12 40631791 rs10878245 T C 2520.80 PASS BaseQRankSum=1.800;DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2418;MQ=56;MQ0=0;MQRankSum=4.079;QD=12.42;ReadPosRankSum=-1.329;SB=-1419.12;TI=NM_198578;GI=LRRK2;FC=Synonymous_L153L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,97:203:99:2551,0,2701:56:99:0.478 chr12 40645257 rs7955902 C A 1343.83 PASS BaseQRankSum=1.017;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5761;MQ=57;MQ0=0;MQRankSum=0.284;QD=15.10;ReadPosRankSum=1.609;SB=-643.30;TI=NM_198578;GI=LRRK2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,48:89:99:1374,0,1098:57:99:0.539 chr12 40671989 rs10878307 A G 1016.71 PASS BaseQRankSum=1.859;DP=114;Dels=0.00;FS=2.500;HRun=0;HaplotypeScore=3.9101;MQ=56;MQ0=0;MQRankSum=1.368;QD=8.92;ReadPosRankSum=-0.322;SB=-536.57;TI=NM_198578;GI=LRRK2;FC=Missense_I723V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,43:114:99:1047,0,1916:56:99:0.377 chr12 40681142 . C CT 431.24 PASS BaseQRankSum=0.637;DP=33;FS=6.808;HRun=2;HaplotypeScore=34.7260;MQ=59;MQ0=0;MQRankSum=-0.055;QD=13.07;ReadPosRankSum=0.565;SB=-22.64;TI=NM_198578;GI=LRRK2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,14:33:99:470,0,657:59:99:0.424 chr12 40713834 rs1427263 C A 1552.40 PASS BaseQRankSum=0.433;DP=108;Dels=0.00;FS=10.987;HRun=1;HaplotypeScore=3.6381;MQ=57;MQ0=0;MQRankSum=1.386;QD=14.37;ReadPosRankSum=2.203;SB=-671.86;TI=NM_198578;GI=LRRK2;FC=Synonymous_G1624G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,54:108:99:1582,0,1462:57:99:0.505 chr12 40713873 rs11176013 A G 1325.07 PASS BaseQRankSum=0.905;DP=86;Dels=0.00;FS=17.727;HRun=0;HaplotypeScore=1.8938;MQ=57;MQ0=0;MQRankSum=0.429;QD=15.41;ReadPosRankSum=-2.368;SB=-402.06;TI=NM_198578;GI=LRRK2;FC=Synonymous_K1637K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,46:86:99:1355,0,1202:57:99:0.535 chr12 40713901 rs11564148 T A 1393.30 PASS BaseQRankSum=-1.461;DP=97;Dels=0.00;FS=6.541;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.869;QD=14.36;ReadPosRankSum=-1.620;SB=-587.18;TI=NM_198578;GI=LRRK2;FC=Missense_S1647T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,49:97:99:1423,0,1384:57:99:0.505 chr12 40716260 rs10878371 T C 577.14 PASS BaseQRankSum=2.379;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=2.004;QD=10.89;ReadPosRankSum=0.811;SB=-410.59;TI=NM_198578;GI=LRRK2;FC=Synonymous_G1819G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,25:53:99:607,0,675:55:99:0.472 chr12 40742254 rs10878405 G A 759.55 PASS BaseQRankSum=1.481;DP=75;Dels=0.00;FS=0.885;HRun=3;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.112;QD=10.13;ReadPosRankSum=-0.228;SB=-563.87;TI=NM_198578;GI=LRRK2;FC=Synonymous_E2108E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,35:75:99:790,0,928:52:99:0.467 chr12 40758652 rs3761863 T C 2288.36 PASS BaseQRankSum=-0.702;DP=75;Dels=0.00;FS=5.905;HRun=0;HaplotypeScore=2.7880;MQ=54;MQ0=0;MQRankSum=0.468;QD=30.51;ReadPosRankSum=-1.404;SB=-671.35;TI=NM_198578;GI=LRRK2;FC=Missense_M2397T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,73:75:99:2321,134,0:54:99:0.986 chr12 41337435 rs1056019 C T 3391.28 PASS DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9941;MQ=57;MQ0=0;QD=30.83;SB=-1410.76;TI=NM_175038,NM_001843;GI=CNTN1,CNTN1;FC=Synonymous_N461N,Synonymous_N472N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:110:99:3391,244,0:57:99:1.000 chr12 41374862 rs33965313 A G 1890.25 PASS BaseQRankSum=-0.671;DP=166;Dels=0.00;FS=1.949;HRun=0;HaplotypeScore=7.3513;MQ=56;MQ0=0;MQRankSum=1.014;QD=11.39;ReadPosRankSum=0.789;SB=-1194.83;TI=NM_175038,NM_001843;GI=CNTN1,CNTN1;FC=Synonymous_A641A,Synonymous_A652A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,77:166:99:1920,0,2333:56:99:0.467 chr12 42854205 rs3747562 A G 6408.96 PASS DP=203;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.6683;MQ=57;MQ0=0;QD=31.57;SB=-2883.34;TI=NM_001144881,NM_001144883,NM_001144882,NM_153026;GI=PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1;FC=Synonymous_S634S,Synonymous_S634S,Synonymous_S634S,Synonymous_S634S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,203:203:99:6409,473,0:57:99:1.000 chr12 42854208 rs3747563 A G 2729.15 PASS BaseQRankSum=1.158;DP=200;Dels=0.00;FS=4.414;HRun=0;HaplotypeScore=13.6683;MQ=58;MQ0=0;MQRankSum=1.838;QD=13.65;ReadPosRankSum=-2.467;SB=-1031.77;TI=NM_001144881,NM_001144883,NM_001144882,NM_153026;GI=PRICKLE1,PRICKLE1,PRICKLE1,PRICKLE1;FC=Synonymous_F633F,Synonymous_F633F,Synonymous_F633F,Synonymous_F633F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,105:200:99:2759,0,2502:58:99:0.528 chr12 44180295 rs4251545 G A 1637.64 PASS BaseQRankSum=1.694;DP=145;Dels=0.00;FS=0.616;HRun=2;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=0.672;QD=11.29;ReadPosRankSum=-0.719;SB=-1042.36;TI=NM_016123,NM_001145257,NM_001114182,NM_001145256,NM_001145258;GI=IRAK4,IRAK4,IRAK4,IRAK4,IRAK4;FC=Missense_A428T,Missense_A304T,Missense_A428T,Missense_A304T,Missense_A304T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,68:145:99:1668,0,2043:55:99:0.469 chr12 45771901 rs36059278 GT G 218.87 R8 BaseQRankSum=0.272;DP=53;FS=1.245;HRun=16;HaplotypeScore=294.1263;MQ=46;MQ0=0;MQRankSum=0.718;QD=4.13;ReadPosRankSum=-0.347;SB=-113.71;TI=NM_001025356,NM_001142679,NM_001142680,NM_001142678;GI=ANO6,ANO6,ANO6,ANO6;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,15:53:99:258,0,328:46:99:0.385 chr12 48238757 rs731236 A G 643.15 PASS BaseQRankSum=1.766;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=58;MQ0=0;MQRankSum=1.387;QD=10.05;ReadPosRankSum=-0.007;SB=-336.78;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Synonymous_I352I,Synonymous_I352I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,28:64:99:673,0,836:58:99:0.438 chr12 48272895 rs2228570 A G 1186.59 PASS DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=26.97;SB=-768.80;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Missense_M1T,Missense_M1T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:90.26:1220,90,0:56:90:1.000 chr12 48375568 rs1635553 A G 1400.34 PASS BaseQRankSum=0.645;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3610;MQ=54;MQ0=0;MQRankSum=1.253;QD=11.97;ReadPosRankSum=1.966;SB=-1075.89;TI=NM_001844,NM_033150;GI=COL2A1,COL2A1;FC=Synonymous_N800N,Synonymous_N731N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,65:117:99:1430,0,1281:54:99:0.556 chr12 48376291 rs2276454 G A 1464.09 PASS BaseQRankSum=2.428;DP=97;Dels=0.00;FS=2.772;HRun=0;HaplotypeScore=2.6548;MQ=50;MQ0=0;MQRankSum=0.100;QD=15.09;ReadPosRankSum=-0.307;SB=-1003.10;TI=NM_001844,NM_033150;GI=COL2A1,COL2A1;FC=Synonymous_G765G,Synonymous_G696G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,59:97:99:1494,0,914:50:99:0.608 chr12 48380682 rs10875714 G A 1284.23 PASS BaseQRankSum=0.786;DP=127;Dels=0.00;FS=1.533;HRun=1;HaplotypeScore=4.4704;MQ=53;MQ0=0;MQRankSum=1.287;QD=10.11;ReadPosRankSum=0.095;SB=-536.79;TI=NM_001844,NM_033150;GI=COL2A1,COL2A1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,55:127:99:1314,0,1856:53:99:0.433 chr12 48391416 rs3737548 G T 1206.03 PASS BaseQRankSum=1.416;DP=81;Dels=0.00;FS=2.963;HRun=0;HaplotypeScore=4.7151;MQ=58;MQ0=0;MQRankSum=-0.586;QD=14.89;ReadPosRankSum=-0.310;SB=-723.99;TI=NM_001844,NM_033150;GI=COL2A1,COL2A1;FC=Synonymous_G168G,Synonymous_G99G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,46:81:99:1236,0,813:58:99:0.568 chr12 48398080 rs3803183 T A 307.73 PASS BaseQRankSum=-1.763;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=0.230;QD=8.32;ReadPosRankSum=0.598;SB=-194.43;TI=NM_001844,NM_033150;GI=COL2A1,COL2A1;FC=Missense_T9S,Missense_T9S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,16:37:99:338,0,549:54:99:0.432 chr12 48501161 rs11609399 A T 1751.85 PASS BaseQRankSum=-0.458;DP=120;Dels=0.00;FS=2.403;HRun=1;HaplotypeScore=5.9935;MQ=55;MQ0=0;MQRankSum=0.153;QD=14.60;ReadPosRankSum=1.353;SB=-1227.34;TI=NM_001166686;GI=PFKM;FC=Missense_H2L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,72:120:99:1782,0,1120:55:99:0.600 chr12 48526712 rs2228500 G A 664.04 PASS BaseQRankSum=1.722;DP=57;Dels=0.00;FS=3.989;HRun=1;HaplotypeScore=1.9996;MQ=57;MQ0=0;MQRankSum=-1.834;QD=11.65;ReadPosRankSum=-2.924;SB=-347.66;TI=NM_001166686,NM_000289,NM_001166688,NM_001166687;GI=PFKM,PFKM,PFKM,PFKM;FC=Missense_R171Q,Missense_R100Q,Missense_R100Q,Missense_R100Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,26:57:99:694,0,844:57:99:0.456 chr12 49168848 rs3730070 G C 968.85 PASS BaseQRankSum=0.174;DP=87;Dels=0.00;FS=3.010;HRun=0;HaplotypeScore=3.5489;MQ=54;MQ0=0;MQRankSum=1.254;QD=11.14;ReadPosRankSum=1.535;SB=-419.31;TI=NM_015270,NM_020983;GI=ADCY6,ADCY6;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,41:87:99:999,0,1098:54:99:0.471 chr12 49170204 . T C 51.06 LowVariantFreq;SB BaseQRankSum=-4.503;DP=135;Dels=0.01;FS=59.869;HRun=6;HaplotypeScore=163.7777;MQ=46;MQ0=0;MQRankSum=-4.897;QD=0.38;ReadPosRankSum=0.866;SB=-0.01;TI=NM_015270,NM_020983;GI=ADCY6,ADCY6;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,18:133:81.05:81,0,3222:46:51:0.137 chr12 49176872 rs3730308 G T 721.81 PASS BaseQRankSum=0.154;DP=65;Dels=0.00;FS=1.001;HRun=0;HaplotypeScore=2.6985;MQ=57;MQ0=0;MQRankSum=-0.703;QD=11.10;ReadPosRankSum=1.091;SB=-256.56;TI=NM_015270,NM_020983;GI=ADCY6,ADCY6;FC=Synonymous_R116R,Synonymous_R116R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,26:65:99:752,0,1140:57:99:0.400 chr12 49177113 rs2453486 T G 496.35 PASS BaseQRankSum=0.676;DP=73;Dels=0.00;FS=5.090;HRun=1;HaplotypeScore=3.5921;MQ=55;MQ0=0;MQRankSum=-1.846;QD=6.80;ReadPosRankSum=0.908;SB=-232.82;TI=NM_015270,NM_020983;GI=ADCY6,ADCY6;FC=Synonymous_A35A,Synonymous_A35A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,21:73:99:526,0,1310:55:99:0.288 chr12 49359989 rs1051886 G A 852.96 PASS BaseQRankSum=0.620;DP=55;Dels=0.00;FS=1.231;HRun=0;HaplotypeScore=9.3138;MQ=58;MQ0=0;MQRankSum=0.509;QD=15.51;ReadPosRankSum=-0.269;SB=-313.75;TI=NM_003394;GI=WNT10B;FC=Synonymous_H353H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,30:55:99:883,0,637:58:99:0.577 chr12 49425978 rs3741622 T C 929.86 PASS BaseQRankSum=1.898;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6331;MQ=56;MQ0=0;MQRankSum=0.957;QD=12.57;ReadPosRankSum=0.059;SB=-614.00;TI=NM_003482;GI=MLL2;FC=Synonymous_P4170P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,38:74:99:960,0,837:56:99:0.514 chr12 49427652 rs3782357 C T 638.50 PASS BaseQRankSum=0.059;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5756;MQ=53;MQ0=0;MQRankSum=-0.450;QD=19.35;ReadPosRankSum=1.508;SB=-280.87;TI=NM_003482;GI=MLL2;FC=Synonymous_Q3612Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,23:33:99:668,0,263:53:99:0.697 chr12 49434074 rs10747559 C A 1364.09 PASS DP=43;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4659;MQ=57;MQ0=0;QD=31.72;SB=-313.52;TI=NM_003482;GI=MLL2;FC=Synonymous_G2493G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,43:43:99:1397,105,0:57:99:1.000 chr12 49444545 rs2241726 G A 1492.58 PASS BaseQRankSum=-0.693;DP=111;Dels=0.00;FS=2.807;HRun=1;HaplotypeScore=10.1822;MQ=57;MQ0=0;MQRankSum=1.708;QD=13.45;ReadPosRankSum=1.838;SB=-394.37;TI=NM_003482;GI=MLL2;FC=Synonymous_I942I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,54:111:99:1523,0,1586:57:99:0.486 chr12 49444957 . A G 10.23 SB;LowDP BaseQRankSum=-0.480;DP=10;Dels=0.00;FS=3.310;HRun=1;HaplotypeScore=2.7591;MQ=45;MQ0=0;MQRankSum=-1.271;QD=1.02;ReadPosRankSum=-0.480;SB=-0.01;TI=NM_003482;GI=MLL2;FC=Missense_S837P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,2:10:39.79:40,0,239:45:10:0.200 chr12 49444975 . A G 19.99 SB;LowDP BaseQRankSum=0.000;DP=7;Dels=0.00;FS=3.979;HRun=1;HaplotypeScore=8.7115;MQ=49;MQ0=0;MQRankSum=-1.754;QD=2.86;ReadPosRankSum=0.000;SB=-0.00;TI=NM_003482;GI=MLL2;FC=Missense_S831P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,3:7:49.94:50,0,105:49:20:0.429 chr12 49444976 . T C 18.90 SB;LowDP BaseQRankSum=0.000;DP=7;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=9.6849;MQ=49;MQ0=0;MQRankSum=-1.754;QD=2.70;ReadPosRankSum=0.000;SB=-0.01;TI=NM_003482;GI=MLL2;FC=Synonymous_E830E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,3:7:48.84:49,0,116:49:19:0.429 chr12 49444984 . G C 12.31 SB;LowDP BaseQRankSum=-0.922;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.6698;MQ=49;MQ0=0;MQRankSum=-1.495;QD=1.76;ReadPosRankSum=-0.922;SB=-0.01;TI=NM_003482;GI=MLL2;FC=Missense_P828A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,2:7:42.04:42,0,160:49:12:0.286 chr12 49444988 . G C 15.93 SB;LowDP BaseQRankSum=-0.922;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.7872;MQ=49;MQ0=0;MQRankSum=-0.922;QD=2.28;ReadPosRankSum=-0.922;SB=-0.01;TI=NM_003482;GI=MLL2;FC=Synonymous_P826P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,2:7:45.81:46,0,158:49:16:0.286 chr12 49444991 . G A 12.33 SB;LowDP BaseQRankSum=-0.922;DP=7;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=17.4468;MQ=49;MQ0=0;MQRankSum=-1.495;QD=1.76;ReadPosRankSum=-0.198;SB=-0.01;TI=NM_003482;GI=MLL2;FC=Synonymous_S825S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,2:7:42.06:42,0,139:49:12:0.286 chr12 49444994 . C T 18.88 SB;LowDP BaseQRankSum=0.198;DP=7;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=17.4468;MQ=49;MQ0=0;MQRankSum=-1.495;QD=2.70;ReadPosRankSum=-0.198;SB=-0.01;TI=NM_003482;GI=MLL2;FC=Synonymous_L824L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,2:7:48.82:49,0,131:49:19:0.286 chr12 49444998 . C T 18.89 SB;LowDP BaseQRankSum=0.198;DP=7;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=2.6112;MQ=49;MQ0=0;MQRankSum=-0.922;QD=2.70;ReadPosRankSum=0.198;SB=-0.01;TI=NM_003482;GI=MLL2;FC=Missense_C823Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,2:7:48.83:49,0,125:49:19:0.286 chr12 49444999 . A G 19.08 SB;LowDP BaseQRankSum=-0.550;DP=7;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=2.6112;MQ=49;MQ0=0;MQRankSum=-1.754;QD=2.73;ReadPosRankSum=0.000;SB=0.04;TI=NM_003482;GI=MLL2;FC=Missense_C823R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,3:7:49.02:49,0,91:49:19:0.429 chr12 49445013 . A C 52.26 SB;LowDP BaseQRankSum=-0.406;DP=6;Dels=0.00;FS=3.979;HRun=1;HaplotypeScore=1.7987;MQ=47;MQ0=0;MQRankSum=-1.537;QD=8.71;ReadPosRankSum=-0.406;SB=0.01;TI=NM_003482;GI=MLL2;FC=Missense_V818G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,3:6:82.25:82,0,96:47:52:0.500 chr12 49445014 . C G 52.26 SB;LowDP BaseQRankSum=0.406;DP=6;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=1.7987;MQ=47;MQ0=0;MQRankSum=-1.537;QD=8.71;ReadPosRankSum=-0.406;SB=0.01;TI=NM_003482;GI=MLL2;FC=Missense_V818L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,3:6:82.25:82,0,94:47:52:0.500 chr12 49445015 . A G 21.86 SB;LowDP BaseQRankSum=0.358;DP=6;Dels=0.00;FS=3.979;HRun=2;HaplotypeScore=2.6308;MQ=47;MQ0=0;MQRankSum=-1.231;QD=3.64;ReadPosRankSum=-0.358;SB=-0.00;TI=NM_003482;GI=MLL2;FC=Synonymous_P817P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,2:6:51.83:52,0,92:47:22:0.400 chr12 49445018 . A G 12.33 SB;LowDP BaseQRankSum=-0.550;DP=8;Dels=0.00;FS=3.310;HRun=2;HaplotypeScore=2.6308;MQ=51;MQ0=0;MQRankSum=-1.754;QD=1.54;ReadPosRankSum=0.937;SB=-0.01;TI=NM_003482;GI=MLL2;FC=Synonymous_S816S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,3:8:42.06:42,0,131:51:12:0.429 chr12 49445038 . T G 69.09 SB;LowDP BaseQRankSum=-2.017;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3869;MQ=51;MQ0=0;MQRankSum=-2.017;QD=8.64;ReadPosRankSum=-0.421;SB=-0.01;TI=NM_003482;GI=MLL2;FC=Missense_T810P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,4:8:99:99,0,139:51:69:0.500 chr12 49445045 . G T 15.16 SB;LowDP BaseQRankSum=0.000;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0512;MQ=51;MQ0=0;MQRankSum=-1.067;QD=1.89;ReadPosRankSum=-1.067;SB=-0.01;TI=NM_003482;GI=MLL2;FC=Synonymous_S807S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,2:8:45.02:45,0,129:51:15:0.250 chr12 49579696 rs697624;rs3175263 C G 618.12 LowDP DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=57;MQ0=0;QD=36.36;SB=-33.44;TI=NM_006009;GI=TUBA1A;FC=Synonymous_S151S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,17:17:51.15:651,51,0:57:51:1.000 chr12 49580180 rs1056875 T C 3510.45 PASS DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3434;MQ=53;MQ0=7;QD=27.86;SB=-2037.70;TI=NM_006009;GI=TUBA1A;FC=Synonymous_K96K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:3510,259,0:53:99:1.000 chr12 49724412 . T G 9.23 LowGQX;LowVariantFreq;SB BaseQRankSum=-4.255;DP=101;Dels=0.00;FS=6.417;HRun=0;HaplotypeScore=15.7719;MQ=55;MQ0=0;MQRankSum=1.368;QD=0.09;ReadPosRankSum=2.318;SB=-0.01;TI=NM_005480;GI=TROAP;FC=Missense_I595S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,16:101:38.67:39,0,2094:55:9:0.160 chr12 50344976 rs3741559 G A 121.06 SB;LowDP BaseQRankSum=-0.113;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=-0.113;QD=7.57;ReadPosRankSum=-1.359;SB=-0.01;TI=NM_000486;GI=AQP2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,5:16:99:151,0,346:59:99:0.313 chr12 50348078 rs426496 T C 534.89 PASS BaseQRankSum=1.116;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=55;MQ0=0;MQRankSum=0.307;QD=9.22;ReadPosRankSum=-0.016;SB=-274.79;TI=NM_000486;GI=AQP2;FC=Synonymous_S167S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,21:58:99:565,0,850:55:99:0.362 chr12 50356174 . TGGG T,TGG 721.69 R8 DP=21;FS=0.000;HaplotypeScore=23.4029;MQ=59;MQ0=0;QD=34.37;SB=-78.43;TI=NM_001651;GI=AQP5;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:3,12,0:21:99:800,210,231,519,0,467:59:99:0.800 chr12 51089734 rs11169524 T A 1135.51 PASS BaseQRankSum=0.612;DP=96;Dels=0.00;FS=2.672;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.704;QD=11.83;ReadPosRankSum=1.572;SB=-739.94;TI=NM_173602;GI=DIP2B;FC=Synonymous_T639T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,48:96:99:1166,0,1073:53:99:0.500 chr12 51135275 rs1866422 T C 3032.56 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=26.14;SB=-2145.83;TI=NM_173602;GI=DIP2B;FC=Synonymous_I1477I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3066,217,0:53:99:1.000 chr12 51203371 rs1129406 C T 670.17 PASS BaseQRankSum=-0.191;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=-1.227;QD=14.57;ReadPosRankSum=-3.365;SB=-337.58;TI=NM_005171;GI=ATF1;FC=Synonymous_Y109Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,28:46:99:700,0,428:50:99:0.609 chr12 51203376 rs4986838 T C 502.99 PASS BaseQRankSum=-2.563;DP=39;Dels=0.00;FS=1.322;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=-0.666;QD=12.90;ReadPosRankSum=-2.960;SB=-236.34;TI=NM_005171;GI=ATF1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,22:39:99:533,0,398:50:99:0.564 chr12 51373742 rs706802 C T 1646.92 PASS BaseQRankSum=-0.232;DP=145;Dels=0.00;FS=5.215;HRun=1;HaplotypeScore=2.6548;MQ=56;MQ0=0;MQRankSum=1.748;QD=11.36;ReadPosRankSum=-0.445;SB=-977.11;TI=NR_033422,NM_001174127,NM_001174126;GI=SLC11A2,SLC11A2,SLC11A2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,69:145:99:1677,0,1802:56:99:0.476 chr12 51380835 rs11169654 C T 1513.10 PASS BaseQRankSum=1.243;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=56;MQ0=0;MQRankSum=0.391;QD=12.72;ReadPosRankSum=-0.264;SB=-733.16;TI=NR_033422,NM_001174127,NM_001174126,NM_001174130,NM_001174129,NM_001174128,NR_033421,NM_000617,NM_001174125;GI=SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,56:119:99:1543,0,1781:56:99:0.471 chr12 51381077 rs150909 C T 6242.41 PASS DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7037;MQ=57;MQ0=0;QD=33.56;SB=-2119.71;TI=NR_033422,NM_001174127,NM_001174126,NM_001174130,NM_001174129,NM_001174128,NR_033421,NM_000617,NM_001174125;GI=SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,186:186:99:6242,464,0:57:99:1.000 chr12 51381718 rs224446 C T 1784.55 PASS BaseQRankSum=0.523;DP=118;Dels=0.00;FS=5.831;HRun=1;HaplotypeScore=6.3640;MQ=58;MQ0=0;MQRankSum=1.010;QD=15.12;ReadPosRankSum=2.040;SB=-1043.43;TI=NR_033422,NM_001174127,NM_001174126,NM_001174130,NM_001174129,NM_001174128,NR_033421,NM_000617,NM_001174125;GI=SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,62:118:99:1815,0,1523:58:99:0.534 chr12 51381750 rs2285230 T C 1359.55 PASS BaseQRankSum=0.918;DP=107;Dels=0.00;FS=4.898;HRun=0;HaplotypeScore=2.7878;MQ=58;MQ0=0;MQRankSum=0.141;QD=12.71;ReadPosRankSum=-0.047;SB=-649.82;TI=NR_033422,NM_001174127,NM_001174126,NM_001174130,NM_001174129,NM_001174128,NR_033421,NM_000617,NM_001174125;GI=SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,48:107:99:1390,0,1619:58:99:0.449 chr12 51386066 rs1048230 A G 2039.59 PASS BaseQRankSum=-0.502;DP=187;Dels=0.00;FS=1.148;HRun=0;HaplotypeScore=2.7880;MQ=55;MQ0=0;MQRankSum=-1.215;QD=10.91;ReadPosRankSum=-0.700;SB=-1162.53;TI=NR_033422,NM_001174127,NM_001174126,NM_001174130,NM_001174129,NM_001174128,NR_033421,NM_000617,NM_001174125;GI=SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2;FC=Silent,Synonymous_I418I,Synonymous_I418I,Synonymous_I414I,Synonymous_I418I,Synonymous_I418I,Silent,Synonymous_I418I,Synonymous_I447I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,87:187:99:2070,0,2406:55:99:0.465 chr12 51402905 rs445520 T G 2180.69 PASS DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=54;MQ0=0;QD=27.96;SB=-1370.41;TI=NR_033422,NM_001174127,NM_001174126,NM_001174130,NM_001174129,NM_001174128,NR_033421,NM_000617,NM_001174125;GI=SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2;FC=Silent,Silent,Silent,Missense_Y6S,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2214,160,0:54:99:1.000 chr12 51420164 rs6580779 C A 4188.32 PASS DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2589;MQ=55;MQ0=0;QD=27.37;SB=-2638.58;TI=NR_033422,NM_001174127,NM_001174126,NM_001174128,NR_033421,NM_000617,NM_001174125;GI=SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2,SLC11A2;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,152:153:99:4188,301,0:55:99:1.000 chr12 52080965 rs4761829 C T 3855.55 PASS BaseQRankSum=1.750;DP=251;Dels=0.00;FS=7.799;HRun=0;HaplotypeScore=9.1653;MQ=56;MQ0=0;MQRankSum=2.349;QD=15.36;ReadPosRankSum=-0.027;SB=-1193.13;TI=NM_014191,NM_001177984;GI=SCN8A,SCN8A;FC=Synonymous_D192D,Synonymous_D192D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,136:251:99:3856,0,2806:56:99:0.544 chr12 52184271 rs303815 T C 1622.91 PASS BaseQRankSum=1.586;DP=144;Dels=0.00;FS=0.628;HRun=2;HaplotypeScore=5.4149;MQ=52;MQ0=0;MQRankSum=0.148;QD=11.27;ReadPosRankSum=2.896;SB=-890.45;TI=NM_014191,NM_001177984;GI=SCN8A,SCN8A;FC=Synonymous_P1503P,Synonymous_P1462P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,67:144:99:1653,0,1876:52:99:0.465 chr12 52200742 rs60637 C A 230.31 PASS BaseQRankSum=0.910;DP=33;Dels=0.00;FS=5.097;HRun=2;HaplotypeScore=3.7762;MQ=59;MQ0=0;MQRankSum=-0.546;QD=6.98;ReadPosRankSum=0.303;SB=-103.25;TI=NM_014191,NM_001177984;GI=SCN8A,SCN8A;FC=Synonymous_P1824P,Synonymous_P1783P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,9:33:99:260,0,828:59:99:0.273 chr12 52681925 rs6580873 A C 764.09 PASS BaseQRankSum=1.172;DP=93;Dels=0.00;FS=2.998;HRun=0;HaplotypeScore=2.8936;MQ=49;MQ0=5;MQRankSum=-3.694;QD=8.22;ReadPosRankSum=1.439;SB=-373.71;TI=NM_002281;GI=KRT81;FC=Missense_L248R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,38:93:99:794,0,1220:49:99:0.418 chr12 52699548 rs2032360 T C 3972.18 PASS DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.6704;MQ=49;MQ0=8;QD=24.98;SB=-2680.60;TI=NM_002284;GI=KRT86;FC=Synonymous_A334A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,159:159:99:3972,280,0:49:99:1.000 chr12 52699861 rs4761788 T C 944.05 PASS BaseQRankSum=-0.680;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=59;MQ0=0;MQRankSum=-0.109;QD=11.65;ReadPosRankSum=0.623;SB=-355.99;TI=NM_002284;GI=KRT86;FC=Synonymous_A348A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,36:81:99:974,0,1226:59:99:0.444 chr12 52708420 rs2857671 G A 925.70 PASS BaseQRankSum=0.280;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6643;MQ=58;MQ0=0;MQRankSum=-0.839;QD=29.86;ReadPosRankSum=1.621;SB=-285.68;TI=NM_002282;GI=KRT83;FC=Missense_H493Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,30:31:38.24:959,38,0:58:38:0.968 chr12 52708565 rs2857670 A G 2626.98 PASS BaseQRankSum=-1.371;DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.6648;MQ=48;MQ0=0;MQRankSum=0.527;QD=25.02;ReadPosRankSum=-1.231;SB=-1550.19;TI=NM_002282;GI=KRT83;FC=Synonymous_D444D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,103:105:99:2660,160,0:48:99:0.981 chr12 52709880 rs2852468 A G 568.32 PASS BaseQRankSum=0.179;DP=43;Dels=0.00;FS=1.390;HRun=1;HaplotypeScore=5.6796;MQ=52;MQ0=1;MQRankSum=-2.152;QD=13.22;ReadPosRankSum=-0.564;SB=-284.71;TI=NM_002282;GI=KRT83;FC=Synonymous_A353A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,26:43:99:598,0,430:52:99:0.605 chr12 52709883 rs2248473 T C 565.81 PASS BaseQRankSum=0.868;DP=45;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5737;MQ=53;MQ0=1;MQRankSum=-3.240;QD=12.57;ReadPosRankSum=0.330;SB=-202.43;TI=NM_002282;GI=KRT83;FC=Synonymous_E352E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,25:45:99:596,0,491:53:99:0.568 chr12 52710246 rs2270267 T C 1282.07 PASS BaseQRankSum=-0.410;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6000;MQ=47;MQ0=0;MQRankSum=1.300;QD=13.50;ReadPosRankSum=-0.349;SB=-978.38;TI=NM_002282;GI=KRT83;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,59:95:99:1312,0,723:47:99:0.621 chr12 52710309 rs2257286;rs75619735 G A 1171.56 PASS BaseQRankSum=1.057;DP=79;Dels=0.00;FS=3.145;HRun=0;HaplotypeScore=0.8941;MQ=47;MQ0=2;MQRankSum=0.583;QD=14.83;ReadPosRankSum=1.803;SB=-646.47;TI=NM_002282;GI=KRT83;FC=Synonymous_N328N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,48:79:99:1202,0,604:47:99:0.608 chr12 52710715 rs2857669 G A 1287.16 PASS BaseQRankSum=0.477;DP=108;Dels=0.00;FS=0.739;HRun=0;HaplotypeScore=8.8860;MQ=54;MQ0=0;MQRankSum=-0.122;QD=11.92;ReadPosRankSum=-0.153;SB=-757.95;TI=NM_002282;GI=KRT83;FC=Synonymous_A281A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,56:108:99:1317,0,1178:54:99:0.523 chr12 52711549 rs2857667 G A 2786.25 PASS BaseQRankSum=3.388;DP=239;Dels=0.00;FS=2.214;HRun=0;HaplotypeScore=14.8214;MQ=53;MQ0=0;MQRankSum=0.019;QD=11.66;ReadPosRankSum=-1.735;SB=-1736.70;TI=NM_002282;GI=KRT83;FC=Synonymous_C222C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,113:239:99:2816,0,3044:53:99:0.475 chr12 52712975 rs3741715;rs56040851 G A 2514.36 PASS BaseQRankSum=0.226;DP=173;Dels=0.00;FS=2.773;HRun=0;HaplotypeScore=6.5431;MQ=54;MQ0=0;MQRankSum=3.229;QD=14.53;ReadPosRankSum=-0.032;SB=-1548.71;TI=NM_002282;GI=KRT83;FC=Synonymous_N186N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,100:173:99:2544,0,1729:54:99:0.578 chr12 52758810 . C T 2565.10 PASS BaseQRankSum=1.668;DP=242;Dels=0.00;FS=0.475;HRun=1;HaplotypeScore=12.2154;MQ=52;MQ0=0;MQRankSum=1.218;QD=10.60;ReadPosRankSum=0.334;SB=-1697.26;TI=NM_002283;GI=KRT85;FC=Missense_D189N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:131,111:242:99:2595,0,3089:52:99:0.459 chr12 52818504 rs298104 T G 1373.30 PASS DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=29.85;SB=-663.01;TI=NM_004693;GI=KRT75;FC=Missense_S485R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:99:1406,102,0:53:99:1.000 chr12 52822258 rs401926 A G 1261.45 PASS DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;QD=29.34;SB=-764.31;TI=NM_004693;GI=KRT75;FC=Synonymous_C388C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,43:43:93.31:1294,93,0:51:93:1.000 chr12 52824352 rs395623 G A 1384.75 PASS DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=50;MQ0=0;QD=26.63;SB=-864.31;TI=NM_004693;GI=KRT75;FC=Synonymous_A336A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:99:1418,99,0:50:99:1.000 chr12 52825363 rs1798640 G A 3105.71 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=53;MQ0=0;QD=27.48;SB=-2133.69;TI=NM_004693;GI=KRT75;FC=Synonymous_P278P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3139,226,0:53:99:1.000 chr12 52827818 rs298109 T C 4339.47 PASS DP=157;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2920;MQ=53;MQ0=0;QD=27.64;SB=-2942.47;TI=NM_004693;GI=KRT75;FC=Missense_R91G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,157:157:99:4339,310,0:53:99:1.000 chr12 52841765 rs388626 G A 1653.28 PASS DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=58;MQ0=0;QD=28.02;SB=-704.93;TI=NM_005555;GI=KRT6B;FC=Synonymous_A407A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1686,123,0:58:99:1.000 chr12 52842736 rs437014;rs17099476 T C 301.34 LowDP DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=27;MQ0=0;QD=25.11;SB=-33.43;TI=NM_005555;GI=KRT6B;FC=Missense_I365V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,12:12:30.08:334,30,0:27:30:1.000 chr12 52844243 rs28414881 A G 2307.49 PASS BaseQRankSum=1.700;DP=173;Dels=0.00;FS=49.192;HRun=1;HaplotypeScore=6.6482;MQ=37;MQ0=37;MQRankSum=-7.350;QD=13.34;ReadPosRankSum=0.986;SB=-77.00;TI=NM_005555;GI=KRT6B;FC=Synonymous_R234R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,118:173:99:2337,0,1415:37:99:0.686 chr12 52844246 rs3194290;rs28542657 A G 2374.11 SB BaseQRankSum=0.685;DP=174;Dels=0.00;FS=66.276;HRun=1;HaplotypeScore=6.6482;MQ=38;MQ0=37;MQRankSum=-7.769;QD=13.64;ReadPosRankSum=1.228;SB=-6.56;TI=NM_005555;GI=KRT6B;FC=Synonymous_G233G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,118:174:99:2404,0,1448:38:99:0.678 chr12 52844265 rs652423;rs3194286 T C 1306.90 PASS BaseQRankSum=1.226;DP=239;Dels=0.00;FS=13.919;HRun=0;HaplotypeScore=5.3855;MQ=37;MQ0=36;MQRankSum=6.394;QD=5.47;ReadPosRankSum=2.446;SB=-688.52;TI=NM_005555;GI=KRT6B;FC=Missense_N227S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:178,61:239:99:1337,0,3788:37:99:0.255 chr12 52863038 rs410562;rs17418272 G A 3184.62 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4153;MQ=48;MQ0=4;QD=27.69;SB=-1606.77;TI=NM_173086;GI=KRT6C;FC=Synonymous_S501S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,114:115:99:3218,241,0:48:99:0.991 chr12 52863213 rs412533 C T 4688.42 PASS DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5383;MQ=52;MQ0=0;QD=27.58;SB=-2954.02;TI=NM_173086;GI=KRT6C;FC=Missense_V481I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:170:99:4688,334,0:52:99:1.000 chr12 52863621 rs382367 T G 2487.86 PASS DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9930;MQ=48;MQ0=4;QD=28.93;SB=-1178.04;TI=NM_173086;GI=KRT6C;FC=Synonymous_A419A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2521,193,0:48:99:1.000 chr12 52865863 . C A 4.60 LowGQX;LowVariantFreq BaseQRankSum=0.922;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=10;MQ0=32;MQRankSum=1.495;QD=0.12;ReadPosRankSum=-0.922;SB=-27.43;TI=NM_173086;GI=KRT6C;FC=Missense_D248Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,2:39:32.75:33,0,70:10:5:0.051 chr12 52865918 rs425073 G C 55.74 LowGQX;LowGQ DP=54;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=8;MQ0=47;QD=1.03;SB=-26.88;TI=NM_173086;GI=KRT6C;FC=Synonymous_V229V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:9.01:88,9,0:8:9:1.000 chr12 52865925 rs3194286;rs17099602 C T 15.21 SB BaseQRankSum=1.932;DP=63;Dels=0.00;FS=3.332;HRun=1;HaplotypeScore=0.0000;MQ=8;MQ0=52;MQRankSum=-0.466;QD=0.24;ReadPosRankSum=2.637;SB=-0.01;TI=NM_173086;GI=KRT6C;FC=Missense_S227N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,52:63:45.07:45,0,115:8:15:0.825 chr12 52886478 rs376545;rs11540300 T C 805.91 PASS DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=38;MQ0=0;QD=27.79;SB=-230.52;TI=NM_005554;GI=KRT6A;FC=Synonymous_E165E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:75.15:839,75,0:38:75:1.000 chr12 52886490 rs711317 A G 881.47 PASS DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=38;MQ0=0;QD=28.43;SB=-201.32;TI=NM_005554;GI=KRT6A;FC=Synonymous_A161A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,31:31:81.17:914,81,0:38:81:1.000 chr12 52912906 rs641621 G T 3789.96 PASS BaseQRankSum=2.354;DP=157;Dels=0.00;FS=1.638;HRun=2;HaplotypeScore=2.7829;MQ=47;MQ0=21;MQRankSum=4.442;QD=24.14;ReadPosRankSum=3.408;SB=-2275.91;TI=NM_000424;GI=KRT5;FC=Synonymous_T198T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:21,136:157:99:3790,149,0:47:99:0.866 chr12 52912909 rs641615 G T 3826.41 PASS BaseQRankSum=1.352;DP=159;Dels=0.00;FS=1.632;HRun=1;HaplotypeScore=1.7882;MQ=47;MQ0=21;MQRankSum=4.129;QD=24.07;ReadPosRankSum=3.190;SB=-2315.34;TI=NM_000424;GI=KRT5;FC=Missense_D197E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:20,139:159:99:3826,171,0:47:99:0.874 chr12 52913517 rs638907 G A 198.40 LowGQ;SB;LowDP DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=33.07;SB=-0.01;TI=NM_000424;GI=KRT5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:18.06:231,18,0:56:18:1.000 chr12 52965173 rs670741 T G 1618.37 PASS BaseQRankSum=2.197;DP=143;Dels=0.00;FS=1.338;HRun=0;HaplotypeScore=4.4704;MQ=50;MQ0=0;MQRankSum=0.475;QD=11.32;ReadPosRankSum=0.948;SB=-1040.06;TI=NM_175053;GI=KRT74;FC=Missense_E271D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,68:143:99:1648,0,1807:50:99:0.476 chr12 52965722 rs673363 T C 1524.14 PASS BaseQRankSum=2.396;DP=114;Dels=0.00;FS=3.661;HRun=1;HaplotypeScore=2.7876;MQ=55;MQ0=0;MQRankSum=1.197;QD=13.37;ReadPosRankSum=-1.788;SB=-876.63;TI=NM_175053;GI=KRT74;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,66:114:99:1554,0,1174:55:99:0.579 chr12 52965761 rs673449 C T 1606.71 PASS BaseQRankSum=1.559;DP=127;Dels=0.00;FS=3.213;HRun=1;HaplotypeScore=4.4100;MQ=54;MQ0=0;MQRankSum=-0.505;QD=12.65;ReadPosRankSum=1.404;SB=-1089.60;TI=NM_175053;GI=KRT74;FC=Synonymous_T238T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,68:127:99:1637,0,1416:54:99:0.535 chr12 52965782 rs673476 T C 1638.27 PASS BaseQRankSum=-0.330;DP=130;Dels=0.00;FS=4.223;HRun=1;HaplotypeScore=5.5735;MQ=55;MQ0=0;MQRankSum=0.002;QD=12.60;ReadPosRankSum=0.054;SB=-1036.27;TI=NM_175053;GI=KRT74;FC=Synonymous_E231E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,72:130:99:1668,0,1370:55:99:0.554 chr12 52967080 rs6580887 A G 445.18 SB BaseQRankSum=-0.921;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=55;MQ0=0;MQRankSum=1.152;QD=15.90;ReadPosRankSum=1.198;SB=-0.01;TI=NM_175053;GI=KRT74;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,15:28:99:475,0,423:55:99:0.536 chr12 53045615 rs75253159 A G 50.79 LowVariantFreq BaseQRankSum=1.234;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9882;MQ=51;MQ0=0;MQRankSum=-2.256;QD=2.31;ReadPosRankSum=-1.745;SB=-18.39;TI=NM_000423;GI=KRT2;FC=Synonymous_G104G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,4:22:80.79:81,0,531:51:51:0.182 chr12 53045626 rs2634041 T C 226.74 PASS BaseQRankSum=0.334;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8829;MQ=51;MQ0=0;MQRankSum=-2.604;QD=10.31;ReadPosRankSum=-1.202;SB=-57.71;TI=NM_000423;GI=KRT2;FC=Missense_S101G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,9:22:99:257,0,398:51:99:0.409 chr12 53045777 rs11835758 G A 551.55 PASS BaseQRankSum=-0.011;DP=45;Dels=0.00;FS=1.217;HRun=0;HaplotypeScore=3.6506;MQ=52;MQ0=0;MQRankSum=1.786;QD=12.26;ReadPosRankSum=-0.330;SB=-338.87;TI=NM_000423;GI=KRT2;FC=Synonymous_G50G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,24:45:99:582,0,480:52:99:0.533 chr12 53069014 rs14024 T C 1854.94 PASS BaseQRankSum=1.432;DP=139;Dels=0.00;FS=1.396;HRun=1;HaplotypeScore=1.8561;MQ=52;MQ0=0;MQRankSum=1.802;QD=13.34;ReadPosRankSum=-0.932;SB=-1189.98;TI=NM_006121;GI=KRT1;FC=Missense_K633R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,78:139:99:1885,0,1407:52:99:0.561 chr12 53069222 . CACCTCCGGAGCCGTAGCTGCT C 5867.39 PASS BaseQRankSum=-2.071;DP=143;FS=18.704;HRun=0;HaplotypeScore=409.2216;MQ=49;MQ0=0;MQRankSum=-2.919;QD=41.03;ReadPosRankSum=-0.818;SB=-2116.88;TI=NM_006121;GI=KRT1;FC=7AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,42:142:99:5867,0,15072:49:99:0.294 chr12 53070121 rs698170 T G 2821.10 PASS BaseQRankSum=1.622;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=-0.995;QD=30.01;ReadPosRankSum=-1.179;SB=-1633.47;TI=NM_006121;GI=KRT1;FC=Synonymous_T471T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,93:94:99:2854,208,0:55:99:0.989 chr12 53070145 rs936958 G A 1436.34 PASS BaseQRankSum=0.017;DP=104;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=6.5752;MQ=54;MQ0=0;MQRankSum=1.577;QD=13.81;ReadPosRankSum=-0.142;SB=-797.97;TI=NM_006121;GI=KRT1;FC=Synonymous_R463R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,55:104:99:1466,0,1125:54:99:0.534 chr12 53073768 . A C 16.28 SB BaseQRankSum=-3.046;DP=34;Dels=0.03;FS=6.520;HRun=0;HaplotypeScore=36.3177;MQ=46;MQ0=0;MQRankSum=-2.457;QD=0.48;ReadPosRankSum=1.911;SB=-0.01;TI=NM_006121;GI=KRT1;FC=Missense_F122C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,8:33:46.17:46,0,651:46:16:0.242 chr12 53184619 . T TA 2143.41 PASS BaseQRankSum=0.525;DP=132;FS=3.175;HRun=1;HaplotypeScore=67.3045;MQ=56;MQ0=0;MQRankSum=5.030;QD=16.24;ReadPosRankSum=-1.182;SB=-776.90;TI=NM_057088;GI=KRT3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,60:132:99:2182,0,2616:56:99:0.455 chr12 53186088 rs3887954 G C 2816.82 PASS DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=49;MQ0=0;QD=25.84;SB=-1928.52;TI=NM_057088;GI=KRT3;FC=Missense_R375G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:109:99:2850,202,0:49:99:1.000 chr12 53186122 rs4432093 G A 2405.04 PASS DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49;MQ0=0;QD=26.43;SB=-1701.44;TI=NM_057088;GI=KRT3;FC=Synonymous_R363R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2438,172,0:49:99:1.000 chr12 53189449 . T A 38.42 LowVariantFreq;SB BaseQRankSum=0.869;DP=40;Dels=0.00;FS=8.768;HRun=0;HaplotypeScore=26.5556;MQ=46;MQ0=0;MQRankSum=-1.510;QD=0.96;ReadPosRankSum=-1.830;SB=-0.01;TI=NM_057088;GI=KRT3;FC=Synonymous_G126G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,5:40:68.42:68,0,726:46:38:0.139 chr12 53189464 . T A 3.64 LowGQX;LowVariantFreq;SB BaseQRankSum=-1.310;DP=40;Dels=0.00;FS=2.139;HRun=0;HaplotypeScore=33.2375;MQ=46;MQ0=0;MQRankSum=-0.080;QD=0.09;ReadPosRankSum=0.187;SB=-5.90;TI=NM_057088;GI=KRT3;FC=Synonymous_G121G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,4:40:31.17:31,0,780:46:4:0.118 chr12 53207603 rs7135148 A G 287.60 PASS BaseQRankSum=1.569;DP=74;Dels=0.00;FS=13.139;HRun=0;HaplotypeScore=7.2305;MQ=38;MQ0=0;MQRankSum=-1.858;QD=3.89;ReadPosRankSum=-3.933;SB=-38.01;TI=NM_002272;GI=KRT4;FC=Synonymous_F154F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,16:74:99:318,0,1672:38:99:0.216 chr12 53207606 rs79164931 G A 167.84 LowVariantFreq BaseQRankSum=0.289;DP=81;Dels=0.00;FS=6.603;HRun=3;HaplotypeScore=9.9577;MQ=38;MQ0=0;MQRankSum=-2.310;QD=2.07;ReadPosRankSum=-4.021;SB=-17.77;TI=NM_002272;GI=KRT4;FC=Synonymous_G153G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,13:81:99:198,0,1933:38:99:0.160 chr12 53291007 . C CA 40.96 LowVariantFreq;R8 BaseQRankSum=0.426;DP=55;FS=2.878;HRun=11;HaplotypeScore=192.8710;MQ=54;MQ0=0;MQRankSum=1.089;QD=0.74;ReadPosRankSum=0.938;SB=-10.97;TI=NM_002273;GI=KRT8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,7:55:79.99:80,0,978:54:41:0.146 chr12 53294381 rs8608 T C 2269.31 PASS BaseQRankSum=2.891;DP=189;Dels=0.00;FS=2.492;HRun=0;HaplotypeScore=2.6548;MQ=52;MQ0=0;MQRankSum=0.943;QD=12.01;ReadPosRankSum=0.973;SB=-1537.57;TI=NM_002273;GI=KRT8;FC=Synonymous_L227L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,98:189:99:2299,0,2163:52:99:0.519 chr12 53298769 rs1065306 A G 422.12 PASS BaseQRankSum=0.509;DP=33;Dels=0.00;FS=1.606;HRun=1;HaplotypeScore=3.6770;MQ=50;MQ0=4;MQRankSum=-0.066;QD=12.79;ReadPosRankSum=0.199;SB=-135.16;TI=NM_002273;GI=KRT8;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,21:33:99:452,0,342:50:99:0.636 chr12 53343461 rs17120866 A AC 3984.10 PASS BaseQRankSum=1.120;DP=225;FS=0.000;HRun=3;HaplotypeScore=141.6207;MQ=56;MQ0=0;MQRankSum=5.558;QD=17.71;ReadPosRankSum=0.295;SB=-1728.61;TI=NM_199187,NM_000224;GI=KRT18,KRT18;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,119:225:99:3984,0,3464:56:99:0.531 chr12 53693532 rs1534284 A G 1379.71 PASS DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8499;MQ=57;MQ0=0;QD=31.36;SB=-517.39;TI=NM_021640;GI=C12orf10;FC=Missense_Q4R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:99:1413,105,0:57:99:1.000 chr12 53693533 rs1534283 A C 1406.32 PASS DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8499;MQ=57;MQ0=0;QD=31.96;SB=-547.63;TI=NM_021640;GI=C12orf10;FC=Missense_Q4H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,43:44:99:1439,108,0:57:99:1.000 chr12 53700848 rs1534282 C T 4868.78 PASS DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7552;MQ=53;MQ0=0;QD=27.05;SB=-3196.13;TI=NM_021640;GI=C12orf10;FC=Missense_T349I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,180:180:99:4869,346,0:53:99:1.000 chr12 53700860 rs711316 A G 4841.34 PASS DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2493;MQ=53;MQ0=0;QD=26.90;SB=-3071.53;TI=NM_021640;GI=C12orf10;FC=Missense_H353R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,180:180:99:4841,343,0:53:99:1.000 chr12 53703021 rs1546808 G A 3965.46 PASS DP=135;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6821;MQ=54;MQ0=0;QD=29.37;SB=-1758.38;TI=NM_015665,NM_001173466;GI=AAAS,AAAS;FC=Synonymous_F285F,Synonymous_F252F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,135:135:99:3965,289,0:54:99:1.000 chr12 53722098 rs7138938 A G 1457.02 PASS DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5319;MQ=58;MQ0=0;QD=36.43;SB=-72.24;TI=NM_152860,NM_001173467;GI=SP7,SP7;FC=Synonymous_H376H,Synonymous_H376H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:40:99:1490,114,0:58:99:1.000 chr12 53722128 rs7139272 G A 1636.23 PASS DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2312;MQ=59;MQ0=0;QD=34.81;SB=-195.43;TI=NM_152860,NM_001173467;GI=SP7,SP7;FC=Synonymous_S366S,Synonymous_S366S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:99:1669,126,0:59:99:1.000 chr12 54385599 rs11614913 C T 7704.72 PASS BaseQRankSum=0.820;DP=271;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0194;MQ=55;MQ0=0;MQRankSum=-0.638;QD=28.43;ReadPosRankSum=-0.312;SB=-4151.65;TI=NR_029617;GI=MIR196A2;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,269:271:99:7705,512,0:55:99:0.993 chr12 54974803 rs8407 C T 2258.27 PASS DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=51;MQ0=0;QD=24.02;SB=-1706.96;TI=NM_006741;GI=PPP1R1A;FC=Synonymous_E145E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2291,163,0:51:99:1.000 chr12 54975837 rs1249958 T C 7243.63 PASS BaseQRankSum=-1.670;DP=278;Dels=0.00;FS=3.058;HRun=1;HaplotypeScore=5.2823;MQ=53;MQ0=0;MQRankSum=-1.595;QD=26.06;ReadPosRankSum=-0.548;SB=-5323.25;TI=NM_006741;GI=PPP1R1A;FC=Missense_E109G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,277:278:99:7244,480,0:53:99:0.996 chr12 56089357 rs1800974 C T 2174.65 PASS BaseQRankSum=1.594;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7396;MQ=54;MQ0=0;MQRankSum=0.624;QD=29.00;ReadPosRankSum=-0.855;SB=-1095.07;TI=NM_001144996,NM_002206,NM_001144997;GI=ITGA7,ITGA7,ITGA7;FC=Missense_R655H,Missense_R651H,Missense_R558H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,74:75:99:2208,163,0:54:99:0.987 chr12 56091617 rs2293412 A G 3397.85 PASS DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1369;MQ=54;MQ0=0;QD=28.08;SB=-2258.77;TI=NM_001144996,NM_002206,NM_001144997;GI=ITGA7,ITGA7,ITGA7;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3398,247,0:54:99:1.000 chr12 56398454 rs773115 G C 6888.78 PASS BaseQRankSum=-1.478;DP=231;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.1657;MQ=55;MQ0=0;MQRankSum=0.752;QD=29.82;ReadPosRankSum=0.229;SB=-3142.12;TI=NM_001032387,NM_001032386,NM_000456;GI=SUOX,SUOX,SUOX;FC=Synonymous_S427S,Synonymous_S427S,Synonymous_S427S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,228:231:99:6889,467,0:55:99:0.991 chr12 56477694 rs2271194 A T 805.12 PASS BaseQRankSum=1.055;DP=75;Dels=0.00;FS=0.886;HRun=0;HaplotypeScore=3.7602;MQ=56;MQ0=0;MQRankSum=3.155;QD=10.73;ReadPosRankSum=0.059;SB=-469.83;TI=NM_001005915,NM_001982;GI=ERBB3,ERBB3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,32:75:99:835,0,1083:56:99:0.427 chr12 56493822 rs2292238 A C 997.73 PASS BaseQRankSum=-1.024;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7038;MQ=59;MQ0=0;MQRankSum=1.474;QD=16.36;ReadPosRankSum=-1.271;SB=-461.80;TI=NM_001982;GI=ERBB3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,34:61:99:1028,0,829:59:99:0.557 chr12 56494991 rs2271189 G A 1062.94 PASS BaseQRankSum=2.052;DP=96;Dels=0.00;FS=0.766;HRun=1;HaplotypeScore=2.7880;MQ=47;MQ0=0;MQRankSum=-0.308;QD=11.07;ReadPosRankSum=-1.634;SB=-735.68;TI=NM_001982;GI=ERBB3;FC=Synonymous_R1116R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,49:96:99:1093,0,1041:47:99:0.510 chr12 57567762 rs1800194 C T 351.24 PASS BaseQRankSum=-0.218;DP=50;Dels=0.00;FS=1.210;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=1.612;QD=7.02;ReadPosRankSum=3.234;SB=-183.38;TI=NM_002332;GI=LRP1;FC=Synonymous_C1182C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,16:50:99:381,0,886:54:99:0.320 chr12 57585144 rs1800139 C T 2811.86 PASS BaseQRankSum=2.281;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=52;MQ0=0;MQRankSum=1.410;QD=12.90;ReadPosRankSum=-1.197;SB=-1768.80;TI=NM_002332;GI=LRP1;FC=Synonymous_A2426A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,118:218:99:2842,0,2449:52:99:0.541 chr12 57589659 rs1800154 C T 1960.76 PASS BaseQRankSum=2.084;DP=169;Dels=0.00;FS=4.570;HRun=0;HaplotypeScore=2.6000;MQ=57;MQ0=0;MQRankSum=-1.439;QD=11.60;ReadPosRankSum=1.436;SB=-893.96;TI=NM_002332;GI=LRP1;FC=Synonymous_C2858C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,73:169:99:1991,0,2546:57:99:0.432 chr12 57589784 rs7397167 A C 5933.30 PASS DP=184;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.3393;MQ=57;MQ0=0;QD=32.25;SB=-3225.24;TI=NM_002332;GI=LRP1;FC=Missense_Q2900P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,184:184:99:5933,439,0:57:99:1.000 chr12 57589865 rs1800189 C T 2243.13 PASS BaseQRankSum=2.165;DP=163;Dels=0.00;FS=0.587;HRun=0;HaplotypeScore=15.6998;MQ=55;MQ0=0;MQRankSum=2.155;QD=13.76;ReadPosRankSum=-0.064;SB=-1273.69;TI=NM_002332;GI=LRP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,79:163:99:2273,0,2215:55:99:0.488 chr12 57590758 rs1800191 C T 562.01 PASS BaseQRankSum=0.161;DP=29;Dels=0.00;FS=5.632;HRun=0;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=-1.537;QD=19.38;ReadPosRankSum=-0.161;SB=-154.74;TI=NM_002332;GI=LRP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,19:29:99:592,0,273:55:99:0.655 chr12 57590797 rs1800156 C T 585.33 PASS BaseQRankSum=0.453;DP=36;Dels=0.00;FS=1.493;HRun=0;HaplotypeScore=2.6475;MQ=56;MQ0=0;MQRankSum=0.621;QD=16.26;ReadPosRankSum=-0.117;SB=-313.61;TI=NM_002332;GI=LRP1;FC=Synonymous_D2975D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,24:36:99:615,0,273:56:99:0.667 chr12 57590869 rs7308698 T C 1657.82 PASS DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=55;MQ0=0;QD=29.60;SB=-1009.22;TI=NM_002332;GI=LRP1;FC=Synonymous_T2999T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:1691,126,0:55:99:1.000 chr12 57591458 rs1800166 C T 714.71 PASS BaseQRankSum=1.469;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3733;MQ=55;MQ0=0;MQRankSum=1.200;QD=10.83;ReadPosRankSum=1.110;SB=-335.88;TI=NM_002332;GI=LRP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,32:66:99:745,0,828:55:99:0.485 chr12 57593101 rs1140648 G A 1182.95 PASS BaseQRankSum=1.227;DP=108;Dels=0.00;FS=6.143;HRun=0;HaplotypeScore=4.6817;MQ=52;MQ0=0;MQRankSum=-0.022;QD=10.95;ReadPosRankSum=1.251;SB=-750.91;TI=NM_002332;GI=LRP1;FC=Synonymous_T3261T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,52:108:99:1213,0,1321:52:99:0.481 chr12 57859431 rs2228225 G A 3742.90 PASS BaseQRankSum=1.583;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5109;MQ=52;MQ0=0;MQRankSum=-0.539;QD=26.93;ReadPosRankSum=-2.114;SB=-2520.00;TI=NM_001160045,NM_005269,NM_001167609;GI=GLI1,GLI1,GLI1;FC=Synonymous_E64E,Synonymous_E192E,Synonymous_E151E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,137:139:99:3743,234,0:52:99:0.986 chr12 57865321 rs2228224 G A 5952.10 PASS DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9487;MQ=56;MQ0=0;QD=29.91;SB=-3045.28;TI=NM_001160045,NM_005269,NM_001167609;GI=GLI1,GLI1,GLI1;FC=Missense_G805D,Missense_G933D,Missense_G892D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,199:199:99:5952,445,0:56:99:1.000 chr12 57865821 rs2228226 G C 5202.37 PASS DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=54;MQ0=0;QD=28.90;SB=-3102.97;TI=NM_001160045,NM_005269,NM_001167609;GI=GLI1,GLI1,GLI1;FC=Missense_E972Q,Missense_E1100Q,Missense_E1059Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,180:180:99:5202,376,0:54:99:1.000 chr12 57870155 rs11544238 A C 3822.64 PASS DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=53;MQ0=0;QD=32.67;SB=-1981.03;TI=NM_001080156,NM_001080157,NM_032496;GI=ARHGAP9,ARHGAP9,ARHGAP9;FC=Missense_S186A,Missense_S370A,Missense_S370A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,117:117:99:3823,280,0:53:99:1.000 chr12 57870648 rs512490 A G 1797.59 PASS DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3177;MQ=44;MQ0=0;QD=26.44;SB=-1206.86;TI=NM_001080156,NM_001080157,NM_032496;GI=ARHGAP9,ARHGAP9,ARHGAP9;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:1831,141,0:44:99:1.000 chr12 58015494 rs923828 G A 1080.01 PASS BaseQRankSum=-0.596;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9558;MQ=56;MQ0=0;MQRankSum=-1.688;QD=12.71;ReadPosRankSum=-2.369;SB=-529.62;TI=NM_133489;GI=SLC26A10;FC=Missense_A193T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,40:85:99:1110,0,1026:56:99:0.476 chr12 58019472 rs774895 T G 4076.23 PASS DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4005;MQ=53;MQ0=0;QD=27.73;SB=-2779.07;TI=NM_133489;GI=SLC26A10;FC=Missense_L546V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,147:147:99:4076,292,0:53:99:1.000 chr12 63544209 rs1042615 A G 249.38 PASS BaseQRankSum=0.230;DP=43;Dels=0.00;FS=7.967;HRun=0;HaplotypeScore=1.9788;MQ=58;MQ0=0;MQRankSum=0.609;QD=5.80;ReadPosRankSum=-1.801;SB=-153.11;TI=NM_000706;GI=AVPR1A;FC=Synonymous_F136F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,12:43:99:279,0,1081:58:99:0.279 chr12 63954304 rs1054891 T C 2384.67 PASS BaseQRankSum=-1.581;DP=192;Dels=0.00;FS=5.983;HRun=0;HaplotypeScore=1.7882;MQ=51;MQ0=0;MQRankSum=2.926;QD=12.42;ReadPosRankSum=-1.206;SB=-1512.88;TI=NM_173812;GI=DPY19L2;FC=Synonymous_L755L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,96:192:99:2415,0,2335:51:99:0.500 chr12 63964640 . G GAA 328.97 R8 BaseQRankSum=-0.032;DP=66;FS=2.319;HRun=12;HaplotypeScore=165.4087;MQ=51;MQ0=0;MQRankSum=-1.335;QD=4.98;ReadPosRankSum=0.636;SB=-94.46;TI=NM_173812;GI=DPY19L2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,14:64:99:368,0,874:51:99:0.318 chr12 64062023 rs10878073 A C 1142.39 PASS BaseQRankSum=1.004;DP=106;Dels=0.00;FS=3.835;HRun=0;HaplotypeScore=4.4868;MQ=57;MQ0=0;MQRankSum=0.624;QD=10.78;ReadPosRankSum=0.663;SB=-460.79;TI=NM_173812;GI=DPY19L2;FC=Missense_S51A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,43:106:99:1172,0,1531:57:99:0.406 chr12 64062052 rs10878074 G A 1122.55 PASS BaseQRankSum=1.017;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7117;MQ=57;MQ0=0;MQRankSum=0.172;QD=11.45;ReadPosRankSum=-1.060;SB=-433.49;TI=NM_173812;GI=DPY19L2;FC=Missense_A41V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,43:98:99:1153,0,1497:57:99:0.439 chr12 64062065 rs10878075 T C 1071.85 PASS BaseQRankSum=1.923;DP=91;Dels=0.00;FS=0.886;HRun=1;HaplotypeScore=5.5868;MQ=58;MQ0=0;MQRankSum=0.444;QD=11.78;ReadPosRankSum=-0.564;SB=-361.72;TI=NM_173812;GI=DPY19L2;FC=Missense_M37V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,40:91:99:1102,0,1308:58:99:0.440 chr12 64875787 rs7486100 T A 2278.74 PASS BaseQRankSum=0.876;DP=150;Dels=0.00;FS=0.643;HRun=0;HaplotypeScore=3.7788;MQ=54;MQ0=0;MQRankSum=1.357;QD=15.19;ReadPosRankSum=0.487;SB=-1034.73;TI=NM_013254;GI=TBK1;FC=Synonymous_I326I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,88:150:99:2309,0,1547:54:99:0.587 chr12 64895099 rs41292027 G A 534.73 PASS BaseQRankSum=-0.470;DP=49;Dels=0.00;FS=1.093;HRun=0;HaplotypeScore=2.7605;MQ=56;MQ0=0;MQRankSum=2.490;QD=10.91;ReadPosRankSum=1.210;SB=-340.05;TI=NM_013254;GI=TBK1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,24:49:99:565,0,696:56:99:0.490 chr12 65146532 rs1147096 C T 3169.17 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=27.32;SB=-1957.12;TI=NM_002076;GI=GNS;FC=Synonymous_P66P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3202,226,0:54:99:1.000 chr12 66597527 rs35239505 A G 407.18 PASS BaseQRankSum=1.705;DP=51;Dels=0.00;FS=2.571;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=-0.976;QD=7.98;ReadPosRankSum=-0.936;SB=-177.47;TI=NM_001142523,NM_007199;GI=IRAK3,IRAK3;FC=Silent,Missense_H57R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,18:51:99:437,0,865:55:99:0.353 chr12 66605228 rs1152888 A G 5164.78 PASS DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1517;MQ=56;MQ0=0;QD=29.18;SB=-3335.02;TI=NM_001142523,NM_007199;GI=IRAK3,IRAK3;FC=Missense_I86V,Missense_I147V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,177:177:99:5165,379,0:56:99:1.000 chr12 66786091 rs7970387 G C 372.18 SB;LowDP DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=37.22;SB=-0.01;TI=NM_021150,NM_001178074;GI=GRIP1,GRIP1;FC=Missense_Q769E,Missense_Q769E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,10:10:30.10:405,30,0:60:30:1.000 chr12 66909389 rs12316942 C T 3691.20 PASS DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=59;MQ0=0;QD=31.55;SB=-1326.33;TI=NM_021150,NM_001178074;GI=GRIP1,GRIP1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,117:117:99:3691,271,0:59:99:1.000 chr12 68552041 . TAA T,TA 1319.64 R8 BaseQRankSum=-0.380;DP=69;FS=0.000;HaplotypeScore=107.8765;MQ=57;MQ0=1;MQRankSum=-1.739;QD=19.13;ReadPosRankSum=-0.357;SB=-450.37;TI=NM_000619;GI=IFNG;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:12,14,0:68:99:1398,824,955,330,0,280:57:99:0.538 chr12 70928616 rs3752703 G A 1539.13 PASS BaseQRankSum=-0.560;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=-0.170;QD=17.10;ReadPosRankSum=-1.384;SB=-990.52;TI=NM_002837,NM_001109754;GI=PTPRB,PTPRB;FC=Synonymous_C1849C,Synonymous_C2067C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,59:90:99:1569,0,825:53:99:0.656 chr12 70928724 rs582954 A G 2836.56 PASS DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=52;MQ0=0;QD=29.24;SB=-1660.05;TI=NM_002837,NM_001109754;GI=PTPRB,PTPRB;FC=Synonymous_D1813D,Synonymous_D2031D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:2870,208,0:52:99:1.000 chr12 70928745 rs3752702 G A 937.96 PASS BaseQRankSum=1.212;DP=77;Dels=0.00;FS=0.874;HRun=1;HaplotypeScore=5.5484;MQ=55;MQ0=0;MQRankSum=2.061;QD=12.18;ReadPosRankSum=2.164;SB=-646.11;TI=NM_002837,NM_001109754;GI=PTPRB,PTPRB;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,42:77:99:968,0,776:55:99:0.545 chr12 70953277 rs2303963 T C 1139.08 PASS BaseQRankSum=0.835;DP=93;Dels=0.00;FS=1.662;HRun=0;HaplotypeScore=4.4704;MQ=57;MQ0=0;MQRankSum=-0.281;QD=12.25;ReadPosRankSum=0.696;SB=-650.29;TI=NM_002837,NM_001109754;GI=PTPRB,PTPRB;FC=Synonymous_A1302A,Synonymous_A1520A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,44:93:99:1169,0,1451:57:99:0.473 chr12 70953369 . T G 964.65 PASS BaseQRankSum=-0.266;DP=115;Dels=0.00;FS=0.732;HRun=1;HaplotypeScore=8.5053;MQ=55;MQ0=0;MQRankSum=2.169;QD=8.39;ReadPosRankSum=-2.269;SB=-501.44;TI=NM_002837,NM_001109754;GI=PTPRB,PTPRB;FC=Missense_I1272L,Missense_I1490L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,41:115:99:995,0,1807:55:99:0.357 chr12 72372862 rs7305115 A G 774.70 PASS BaseQRankSum=-0.945;DP=62;Dels=0.00;FS=3.684;HRun=1;HaplotypeScore=3.8749;MQ=52;MQ0=0;MQRankSum=0.677;QD=12.50;ReadPosRankSum=0.635;SB=-477.14;TI=NM_173353;GI=TPH2;FC=Synonymous_P312P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,33:62:99:805,0,822:52:99:0.532 chr12 72416235 rs4290270 A T 1272.00 PASS BaseQRankSum=0.399;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=-1.308;QD=13.11;ReadPosRankSum=0.018;SB=-925.19;TI=NM_173353;GI=TPH2;FC=Synonymous_A375A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,57:97:99:1302,0,958:51:99:0.588 chr12 80014907 rs78187003 A T 3732.20 PASS DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=27.04;SB=-2121.37;TI=NM_002583;GI=PAWR;FC=Synonymous_I199I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:138:99:3732,265,0:50:99:1.000 chr12 80889829 rs10778752 T A 2368.69 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.20;SB=-1315.30;TI=NM_001145026;GI=PTPRQ;FC=Missense_V473D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2402,172,0:55:99:1.000 chr12 80899901 rs11114486 C A 5054.29 PASS BaseQRankSum=1.691;DP=168;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=5.4701;MQ=55;MQ0=0;MQRankSum=0.804;QD=30.09;ReadPosRankSum=-0.804;SB=-2983.81;TI=NM_001145026;GI=PTPRQ;FC=Missense_Q619K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,167:168:99:5054,364,0:55:99:0.994 chr12 80900397 rs12824064 C G 3152.33 PASS DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=27.65;SB=-2056.41;TI=NM_001145026;GI=PTPRQ;FC=Synonymous_L663L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:114:99:3185,226,0:52:99:1.000 chr12 85674230 . G T 2465.45 PASS BaseQRankSum=-0.366;DP=213;Dels=0.00;FS=1.705;HRun=0;HaplotypeScore=13.2364;MQ=55;MQ0=0;MQRankSum=3.021;QD=11.57;ReadPosRankSum=1.292;SB=-1413.13;TI=NM_006982;GI=ALX1;FC=Missense_R64L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,93:213:99:2495,0,3186:55:99:0.437 chr12 86373221 rs17855890 G C 1418.57 PASS BaseQRankSum=1.641;DP=118;Dels=0.00;FS=3.741;HRun=0;HaplotypeScore=5.3645;MQ=57;MQ0=0;MQRankSum=1.349;QD=12.02;ReadPosRankSum=2.278;SB=-603.99;TI=NM_013244;GI=MGAT4C;FC=Missense_T428S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,51:118:99:1449,0,1865:57:99:0.436 chr12 88483272 rs10717563 TA T 230.06 LowGQ;LowDP DP=8;FS=0.000;HRun=8;HaplotypeScore=5.3623;MQ=60;MQ0=0;QD=28.76;SB=-33.38;TI=NM_025114;GI=CEP290;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,8:8:24.07:272,24,0:60:24:1.000 chr12 88505078 rs2468255 T C 3727.56 PASS BaseQRankSum=1.105;DP=128;Dels=0.00;FS=3.531;HRun=0;HaplotypeScore=3.5764;MQ=55;MQ0=0;MQRankSum=0.477;QD=29.12;ReadPosRankSum=0.750;SB=-2093.79;TI=NM_025114;GI=CEP290;FC=Synonymous_S756S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,126:128:99:3728,238,0:55:99:0.992 chr12 88505633 rs45465996 A G 640.12 PASS BaseQRankSum=0.518;DP=55;Dels=0.00;FS=2.401;HRun=1;HaplotypeScore=0.9947;MQ=59;MQ0=0;MQRankSum=0.314;QD=11.64;ReadPosRankSum=0.738;SB=-336.54;TI=NM_025114;GI=CEP290;FC=Synonymous_A685A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,24:55:99:670,0,810:59:99:0.436 chr12 88522823 rs71082425 A AC 4224.76 PASS DP=93;FS=0.000;HRun=0;HaplotypeScore=68.8222;MQ=58;MQ0=0;QD=45.43;SB=-908.55;TI=NM_025114;GI=CEP290;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:93:99:4225,280,0:58:99:1.000 chr12 91445303 rs2701166 G A 221.43 PASS BaseQRankSum=1.363;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=-0.849;QD=8.20;ReadPosRankSum=-0.694;SB=-28.61;TI=NM_007035;GI=KERA;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,9:27:99:251,0,561:57:99:0.333 chr12 91449990 rs2735333 C T 1260.99 PASS DP=37;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4789;MQ=55;MQ0=0;QD=34.08;SB=-79.97;TI=NM_007035;GI=KERA;FC=Synonymous_V23V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,37:37:99:1294,99,0:55:99:1.000 chr12 91502707 . C A 26.45 LowDP BaseQRankSum=0.778;DP=14;Dels=0.00;FS=7.549;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.212;QD=1.89;ReadPosRankSum=-1.485;SB=-48.19;TI=NM_002345;GI=LUM;FC=Missense_S17I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,4:14:56.43:56,0,320:56:26:0.286 chr12 91572297 . T C 1314.59 PASS BaseQRankSum=-0.259;DP=82;Dels=0.00;FS=3.125;HRun=0;HaplotypeScore=2.6548;MQ=56;MQ0=0;MQRankSum=-0.328;QD=16.03;ReadPosRankSum=-0.631;SB=-815.16;TI=NM_133507,NM_133506,NM_133504,NM_133505,NM_133503,NM_001920;GI=DCN,DCN,DCN,DCN,DCN,DCN;FC=Synonymous_A11A,Synonymous_A11A,Synonymous_A11A,Synonymous_A11A,Synonymous_A11A,Synonymous_A11A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,54:82:99:1345,0,595:56:99:0.659 chr12 96374614 rs7297245 C T 1192.42 PASS BaseQRankSum=1.277;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=1.353;QD=11.25;ReadPosRankSum=0.335;SB=-677.99;TI=NM_002108;GI=HAL;FC=Missense_V439I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,51:106:99:1222,0,1497:55:99:0.481 chr12 96380975 rs11108364 A G 1108.13 PASS BaseQRankSum=1.412;DP=137;Dels=0.00;FS=1.403;HRun=0;HaplotypeScore=5.6684;MQ=53;MQ0=0;MQRankSum=0.083;QD=8.09;ReadPosRankSum=-0.568;SB=-760.01;TI=NM_002108;GI=HAL;FC=Synonymous_N307N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,49:137:99:1138,0,2032:53:99:0.358 chr12 96387621 rs2302629 A G 2279.33 PASS DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9998;MQ=59;MQ0=0;QD=32.10;SB=-1105.51;TI=NM_002108;GI=HAL;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:2312,172,0:59:99:1.000 chr12 98927830 rs17459334 C G 1300.00 PASS BaseQRankSum=0.956;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4646;MQ=57;MQ0=0;MQRankSum=0.755;QD=14.44;ReadPosRankSum=-0.876;SB=-604.36;TI=NM_003276,NM_001032284,NM_001032283;GI=TMPO,TMPO,TMPO;FC=Missense_Q599E,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,46:90:99:1330,0,1183:57:99:0.511 chr12 99007356 rs1048908 T C 1213.40 PASS BaseQRankSum=0.414;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.785;QD=13.63;ReadPosRankSum=-0.185;SB=-375.33;TI=NM_201613,NM_201612;GI=IKBIP,IKBIP;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,44:89:99:1243,0,1220:53:99:0.494 chr12 99007623 rs1048906 C T 2801.68 PASS BaseQRankSum=3.096;DP=195;Dels=0.00;FS=1.128;HRun=2;HaplotypeScore=11.0086;MQ=57;MQ0=0;MQRankSum=0.062;QD=14.37;ReadPosRankSum=3.423;SB=-1488.76;TI=NM_201613,NM_201612;GI=IKBIP,IKBIP;FC=Silent,Missense_G265S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,102:195:99:2832,0,2247:57:99:0.523 chr12 99640428 rs3751323 T C 2284.96 PASS BaseQRankSum=-0.659;DP=158;Dels=0.00;FS=1.298;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=-0.582;QD=14.46;ReadPosRankSum=-0.935;SB=-1140.67;TI=NM_152788;GI=ANKS1B;FC=Synonymous_S657S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,85:158:99:2315,0,1852:55:99:0.538 chr12 99640557 rs1552759 T C 1063.41 PASS BaseQRankSum=2.060;DP=59;Dels=0.00;FS=1.271;HRun=1;HaplotypeScore=2.6548;MQ=58;MQ0=0;MQRankSum=-0.656;QD=18.02;ReadPosRankSum=2.909;SB=-282.08;TI=NM_152788;GI=ANKS1B;FC=Synonymous_P614P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,35:59:99:1093,0,646:58:99:0.593 chr12 100175879 . G GA 84.56 R8 BaseQRankSum=-0.830;DP=53;FS=1.342;HRun=10;HaplotypeScore=100.3133;MQ=51;MQ0=0;MQRankSum=1.603;QD=1.60;ReadPosRankSum=-2.739;SB=-50.88;TI=NM_152788;GI=ANKS1B;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,10:53:99:124,0,989:51:85:0.213 chr12 102036305 rs2293468 C T 998.77 PASS BaseQRankSum=0.945;DP=71;Dels=0.00;FS=6.400;HRun=0;HaplotypeScore=2.8622;MQ=56;MQ0=0;MQRankSum=-0.377;QD=14.07;ReadPosRankSum=0.794;SB=-631.80;TI=NM_002465,NM_206819,NM_206820,NM_206821;GI=MYBPC1,MYBPC1,MYBPC1,MYBPC1;FC=Synonymous_D258D,Synonymous_D258D,Synonymous_D233D,Synonymous_D233D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,40:71:99:1029,0,833:56:99:0.563 chr12 102064118 rs7139095 T C 2972.72 PASS DP=116;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6717;MQ=51;MQ0=0;QD=25.63;SB=-2121.68;TI=NM_002465,NM_206819,NM_206820,NM_206821;GI=MYBPC1,MYBPC1,MYBPC1,MYBPC1;FC=Synonymous_I848I,Synonymous_I848I,Synonymous_I841I,Synonymous_I823I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:116:99:3006,211,0:51:99:1.000 chr12 102069077 rs764291 A G 659.18 PASS BaseQRankSum=2.819;DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5489;MQ=52;MQ0=0;MQRankSum=2.151;QD=7.94;ReadPosRankSum=-0.080;SB=-442.06;TI=NM_002465,NM_206819,NM_206820,NM_206821;GI=MYBPC1,MYBPC1,MYBPC1,MYBPC1;FC=Synonymous_P939P,Synonymous_P939P,Synonymous_P932P,Synonymous_P914P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,31:83:99:689,0,1148:52:99:0.373 chr12 102079418 rs2764 G A 771.18 PASS BaseQRankSum=1.370;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6817;MQ=45;MQ0=0;MQRankSum=1.126;QD=8.29;ReadPosRankSum=-0.075;SB=-543.34;TI=NM_002465,NM_206819,NM_206820,NM_206821;GI=MYBPC1,MYBPC1,MYBPC1,MYBPC1;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,37:93:99:801,0,1280:45:99:0.398 chr12 102147142 rs79493678 G T 994.70 PASS BaseQRankSum=1.787;DP=80;Dels=0.00;FS=1.819;HRun=0;HaplotypeScore=12.6126;MQ=53;MQ0=0;MQRankSum=2.057;QD=12.43;ReadPosRankSum=0.621;SB=-673.18;TI=NM_024312;GI=GNPTAB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,42:80:99:1025,0,826:53:99:0.525 chr12 102154900 rs759935 A G 1317.60 PASS BaseQRankSum=0.900;DP=110;Dels=0.00;FS=0.753;HRun=0;HaplotypeScore=5.5466;MQ=56;MQ0=0;MQRankSum=0.601;QD=11.98;ReadPosRankSum=1.426;SB=-534.55;TI=NM_024312;GI=GNPTAB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,54:110:99:1348,0,1391:56:99:0.491 chr12 102158763 rs10778148 T C 2156.80 PASS BaseQRankSum=-0.573;DP=173;Dels=0.00;FS=0.586;HRun=1;HaplotypeScore=9.8858;MQ=57;MQ0=0;MQRankSum=1.617;QD=12.47;ReadPosRankSum=-1.760;SB=-1024.39;TI=NM_024312;GI=GNPTAB;FC=Synonymous_T644T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,84:173:99:2187,0,2538:57:99:0.486 chr12 103237468 rs772897 G C 2660.20 PASS BaseQRankSum=4.452;DP=222;Dels=0.00;FS=6.553;HRun=0;HaplotypeScore=5.2548;MQ=53;MQ0=0;MQRankSum=1.250;QD=11.98;ReadPosRankSum=1.196;SB=-1468.32;TI=NM_000277;GI=PAH;FC=Synonymous_L385L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,109:222:99:2690,0,2734:53:99:0.491 chr12 103248924 rs1126758 C T 1555.79 PASS BaseQRankSum=0.412;DP=116;Dels=0.00;FS=3.541;HRun=1;HaplotypeScore=5.6815;MQ=53;MQ0=0;MQRankSum=-0.037;QD=13.41;ReadPosRankSum=2.005;SB=-1063.51;TI=NM_000277;GI=PAH;FC=Synonymous_Q232Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,68:116:99:1586,0,1080:53:99:0.591 chr12 103352171 . CGCAGCAGCA C 596.80 R8 BaseQRankSum=0.752;DP=28;FS=2.158;HRun=0;HaplotypeScore=44.6289;MQ=47;MQ0=0;MQRankSum=-3.298;QD=21.31;ReadPosRankSum=-0.868;SB=-149.39;TI=NM_004316;GI=ASCL1;FC=3AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,7:28:99:636,0,754:47:99:0.259 chr12 105531738 . A G 1472.08 PASS BaseQRankSum=-1.129;DP=124;Dels=0.00;FS=0.683;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=1.765;QD=11.87;ReadPosRankSum=0.754;SB=-1018.89;TI=NM_015275;GI=KIAA1033;FC=Synonymous_P467P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,66:124:99:1502,0,1470:53:99:0.532 chr12 105546172 rs1663564 G A 5539.18 PASS DP=197;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5658;MQ=55;MQ0=0;QD=28.12;SB=-3354.12;TI=NM_015275;GI=KIAA1033;FC=Missense_V901I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,197:197:99:5539,397,0:55:99:1.000 chr12 106751657 . C T 1203.05 PASS BaseQRankSum=0.358;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7829;MQ=54;MQ0=0;MQRankSum=1.006;QD=11.14;ReadPosRankSum=-1.234;SB=-972.97;TI=NM_018082;GI=POLR3B;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,59:108:99:1233,0,1157:54:99:0.546 chr12 108918146 rs2303633 C T 3447.54 PASS BaseQRankSum=1.821;DP=237;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.654;QD=14.55;ReadPosRankSum=0.759;SB=-1998.38;TI=NM_014706;GI=SART3;FC=Synonymous_P887P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,135:237:99:3448,0,2321:55:99:0.570 chr12 108919390 rs7963063 T C 2370.79 PASS BaseQRankSum=3.608;DP=220;Dels=0.00;FS=5.643;HRun=0;HaplotypeScore=18.3515;MQ=53;MQ0=0;MQRankSum=3.812;QD=10.78;ReadPosRankSum=2.473;SB=-1479.68;TI=NM_014706;GI=SART3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,96:220:99:2401,0,3021:53:99:0.438 chr12 108923950 rs1549096 A G 703.62 PASS BaseQRankSum=-0.053;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-0.266;QD=11.93;ReadPosRankSum=-1.192;SB=-366.24;TI=NM_014706;GI=SART3;FC=Synonymous_D628D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,28:59:99:734,0,747:56:99:0.475 chr12 108930284 rs58100842 A T 802.45 PASS BaseQRankSum=0.878;DP=61;Dels=0.00;FS=2.479;HRun=3;HaplotypeScore=4.8088;MQ=54;MQ0=0;MQRankSum=1.445;QD=13.15;ReadPosRankSum=1.430;SB=-352.45;TI=NM_014706;GI=SART3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,34:61:99:832,0,742:54:99:0.557 chr12 108954823 rs1063936 C T 1663.22 PASS BaseQRankSum=1.501;DP=125;Dels=0.00;FS=0.691;HRun=2;HaplotypeScore=2.7798;MQ=51;MQ0=0;MQRankSum=1.092;QD=13.31;ReadPosRankSum=0.387;SB=-1102.84;TI=NM_014706;GI=SART3;FC=Synonymous_R36R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,72:125:99:1693,0,1114:51:99:0.576 chr12 108956417 rs10778647 T G 556.98 PASS BaseQRankSum=0.587;DP=53;Dels=0.00;FS=1.108;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-1.074;QD=10.51;ReadPosRankSum=1.399;SB=-224.01;TI=NM_014301,NM_213595;GI=ISCU,ISCU;FC=Silent,Missense_F7V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,22:53:99:587,0,696:56:99:0.415 chr12 108956418 rs10778648 T G 532.54 PASS BaseQRankSum=1.038;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-0.406;QD=10.05;ReadPosRankSum=1.417;SB=-215.41;TI=NM_014301,NM_213595;GI=ISCU,ISCU;FC=Silent,Missense_F7C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,22:53:99:563,0,728:56:99:0.415 chr12 108956433 rs2287555 C T 580.44 PASS BaseQRankSum=-0.009;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-0.978;QD=10.75;ReadPosRankSum=0.130;SB=-338.49;TI=NM_014301,NM_213595;GI=ISCU,ISCU;FC=Silent,Missense_A12V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,26:54:99:610,0,657:56:99:0.481 chr12 109017374 . T G 101.52 SB BaseQRankSum=-3.159;DP=76;Dels=0.00;FS=19.779;HRun=0;HaplotypeScore=25.9175;MQ=49;MQ0=0;MQRankSum=-2.338;QD=1.34;ReadPosRankSum=0.113;SB=-0.01;TI=NM_003006;GI=SELPLG;FC=Missense_E227A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,15:76:99:132,0,1407:49:99:0.200 chr12 109017454 rs74792300 T C 63.32 SB BaseQRankSum=-3.140;DP=76;Dels=0.00;FS=5.655;HRun=1;HaplotypeScore=50.9113;MQ=47;MQ0=0;MQRankSum=-1.300;QD=0.83;ReadPosRankSum=-0.780;SB=-3.26;TI=NM_003006;GI=SELPLG;FC=Synonymous_E200E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,16:76:93.31:93,0,1315:47:63:0.219 chr12 109017521 . C G 82.57 SB BaseQRankSum=-3.230;DP=83;Dels=0.00;FS=8.118;HRun=2;HaplotypeScore=69.1345;MQ=47;MQ0=0;MQRankSum=-1.780;QD=0.99;ReadPosRankSum=2.093;SB=-0.01;TI=NM_003006;GI=SELPLG;FC=Missense_G178A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,17:83:99:113,0,1444:47:83:0.210 chr12 109540740 . A T 22.01 SB;LowDP BaseQRankSum=-0.254;DP=15;Dels=0.00;FS=8.451;HRun=0;HaplotypeScore=31.1534;MQ=32;MQ0=0;MQRankSum=0.254;QD=1.47;ReadPosRankSum=-0.423;SB=-0.01;TI=NM_080911,NM_003362;GI=UNG,UNG;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,3:15:51.98:52,0,170:32:22:0.231 chr12 109577735 rs2878960 C T 1701.05 PASS BaseQRankSum=-0.065;DP=118;Dels=0.00;FS=3.547;HRun=0;HaplotypeScore=2.7565;MQ=56;MQ0=0;MQRankSum=0.265;QD=14.42;ReadPosRankSum=2.262;SB=-745.16;TI=NM_001093;GI=ACACB;FC=Synonymous_S175S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,65:118:99:1731,0,1466:56:99:0.551 chr12 109605730 rs4766516 C T 3415.54 PASS BaseQRankSum=-0.986;DP=286;Dels=0.00;FS=0.906;HRun=0;HaplotypeScore=13.5567;MQ=55;MQ0=0;MQRankSum=3.066;QD=11.94;ReadPosRankSum=-0.938;SB=-2058.53;TI=NM_001093;GI=ACACB;FC=Synonymous_A272A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:147,139:286:99:3416,0,3566:55:99:0.486 chr12 109617865 rs11065772 T C 7514.40 PASS DP=277;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0979;MQ=55;MQ0=0;QD=27.13;SB=-4971.52;TI=NM_001093;GI=ACACB;FC=Synonymous_D597D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,277:277:99:7514,530,0:55:99:1.000 chr12 109623516 rs2300455 G A 2275.14 PASS BaseQRankSum=1.983;DP=180;Dels=0.00;FS=1.894;HRun=0;HaplotypeScore=8.0952;MQ=57;MQ0=0;MQRankSum=-1.443;QD=12.64;ReadPosRankSum=-0.261;SB=-1382.24;TI=NM_001093;GI=ACACB;FC=Missense_A651T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,94:180:99:2305,0,2040:57:99:0.525 chr12 109629457 rs7135947 C T 2705.10 PASS BaseQRankSum=1.295;DP=197;Dels=0.00;FS=2.549;HRun=0;HaplotypeScore=5.3097;MQ=52;MQ0=0;MQRankSum=1.763;QD=13.73;ReadPosRankSum=0.561;SB=-1773.65;TI=NM_001093;GI=ACACB;FC=Synonymous_G728G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,114:197:99:2735,0,1974:52:99:0.579 chr12 109644616 rs17848814 C T 751.52 PASS BaseQRankSum=0.299;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=53;MQ0=0;MQRankSum=1.484;QD=9.05;ReadPosRankSum=-0.510;SB=-509.20;TI=NM_001093;GI=ACACB;FC=Synonymous_N1005N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,36:83:99:782,0,1028:53:99:0.434 chr12 109665242 rs60293430 G A 1263.86 PASS BaseQRankSum=0.116;DP=143;Dels=0.00;FS=0.630;HRun=0;HaplotypeScore=2.7714;MQ=52;MQ0=0;MQRankSum=1.151;QD=8.84;ReadPosRankSum=0.507;SB=-970.55;TI=NM_001093;GI=ACACB;FC=Missense_G1317S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,62:143:99:1294,0,1996:52:99:0.434 chr12 109670468 rs3742027 T C 5464.87 PASS DP=195;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6482;MQ=53;MQ0=0;QD=28.02;SB=-3670.07;TI=NM_001093;GI=ACACB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,195:195:99:5465,391,0:53:99:1.000 chr12 109671738 rs34708647 C A 1585.37 PASS BaseQRankSum=-0.244;DP=140;Dels=0.00;FS=1.353;HRun=0;HaplotypeScore=5.3645;MQ=54;MQ0=0;MQRankSum=0.848;QD=11.32;ReadPosRankSum=-0.323;SB=-923.93;TI=NM_001093;GI=ACACB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,70:140:99:1615,0,1782:54:99:0.500 chr12 109675029 rs2241220 T C 4162.09 PASS DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=57;MQ0=0;QD=29.11;SB=-2147.82;TI=NM_001093;GI=ACACB;FC=Synonymous_L1502L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:143:99:4162,301,0:57:99:1.000 chr12 109696838 rs2075260 G A 3331.64 PASS DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0926;MQ=54;MQ0=0;QD=26.65;SB=-2429.21;TI=NM_001093;GI=ACACB;FC=Missense_V2141I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3332,238,0:54:99:1.000 chr12 109991998 rs12817689 A G 4143.41 PASS BaseQRankSum=-0.615;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4355;MQ=56;MQ0=0;MQRankSum=-0.754;QD=33.41;ReadPosRankSum=-1.481;SB=-1754.05;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,123:124:99:4143,275,0:56:99:0.992 chr12 109992132 rs2241201 C G 7533.81 PASS DP=247;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.5740;MQ=57;MQ0=0;QD=30.50;SB=-2979.44;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,247:247:99:7534,551,0:57:99:1.000 chr12 109992149 rs35145546 C G 7703.74 PASS DP=257;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.5683;MQ=57;MQ0=0;QD=29.98;SB=-3238.94;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,256:257:99:7704,563,0:57:99:1.000 chr12 109992958 rs10623308 T TTA 4624.69 PASS BaseQRankSum=0.716;DP=229;FS=0.967;HRun=0;HaplotypeScore=187.9859;MQ=54;MQ0=0;MQRankSum=2.856;QD=20.20;ReadPosRankSum=0.818;SB=-1919.27;TI=NM_052845;GI=MMAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,116:229:99:4625,0,415:54:99:0.566 chr12 109993079 . G T 4.38 LowGQX;LowVariantFreq;SB BaseQRankSum=-0.223;DP=28;Dels=0.00;FS=18.228;HRun=0;HaplotypeScore=32.6598;MQ=36;MQ0=0;MQRankSum=0.297;QD=0.16;ReadPosRankSum=-1.114;SB=-0.01;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,3:28:32.40:32,0,644:36:4:0.107 chr12 109993080 . G T 6.50 LowGQX;LowVariantFreq;SB BaseQRankSum=0.656;DP=28;Dels=0.04;FS=18.228;HRun=25;HaplotypeScore=32.7915;MQ=36;MQ0=0;MQRankSum=0.733;QD=0.23;ReadPosRankSum=-0.887;SB=-0.01;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,3:27:35.39:35,0,621:36:7:0.111 chr12 109993254 . ATTT A 253.59 LowGQ;R8;LowDP BaseQRankSum=0.752;DP=15;FS=0.000;HRun=24;HaplotypeScore=140.7689;MQ=37;MQ0=0;MQRankSum=-0.322;QD=16.91;ReadPosRankSum=0.537;SB=-101.13;TI=NM_052845;GI=MMAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,5:15:15.12:295,15,0:37:15:0.500 chr12 109993298 rs34921355 C T 637.70 PASS DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5563;MQ=47;MQ0=0;QD=28.99;SB=-321.90;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,22:22:54.17:671,54,0:47:54:1.000 chr12 109993603 rs11067231 C A 6992.17 PASS BaseQRankSum=1.538;DP=250;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4646;MQ=58;MQ0=0;MQRankSum=1.344;QD=27.97;ReadPosRankSum=-1.413;SB=-4169.87;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,249:250:99:6992,479,0:58:99:0.996 chr12 109993976 rs877710 C G 3618.46 PASS DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4153;MQ=58;MQ0=0;QD=32.90;SB=-1439.92;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:3618,271,0:58:99:1.000 chr12 109994870 rs9593 A T 4597.49 PASS DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=27.70;SB=-2880.24;TI=NM_052845;GI=MMAB;FC=Missense_M239K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,166:166:99:4597,331,0:54:99:1.000 chr12 109999037 rs2287181 G A 4489.13 PASS BaseQRankSum=2.130;DP=154;Dels=0.00;FS=3.343;HRun=0;HaplotypeScore=6.2543;MQ=53;MQ0=0;MQRankSum=1.891;QD=29.15;ReadPosRankSum=0.024;SB=-2621.98;TI=NM_052845;GI=MMAB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,152:154:99:4489,299,0:53:99:0.987 chr12 109999068 rs2287180 G A 4407.66 PASS BaseQRankSum=0.574;DP=157;Dels=0.00;FS=2.074;HRun=0;HaplotypeScore=13.3316;MQ=53;MQ0=0;MQRankSum=2.807;QD=28.07;ReadPosRankSum=1.791;SB=-2809.02;TI=NM_052845;GI=MMAB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,151:157:99:4408,224,0:53:99:0.968 chr12 110019338 rs2287218 C T 2675.72 PASS BaseQRankSum=1.632;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0908;MQ=51;MQ0=0;MQRankSum=1.299;QD=25.73;ReadPosRankSum=1.166;SB=-1611.44;TI=NM_000431,NM_001114185;GI=MVK,MVK;FC=Synonymous_D170D,Synonymous_D170D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,103:104:99:2709,193,0:51:99:0.990 chr12 110238481 rs1344554 G A 1183.82 PASS BaseQRankSum=-0.640;DP=110;Dels=0.00;FS=0.712;HRun=0;HaplotypeScore=6.4699;MQ=50;MQ0=0;MQRankSum=2.465;QD=10.76;ReadPosRankSum=-0.586;SB=-889.98;TI=NM_001177431,NM_001177433,NM_147204,NM_001177428,NM_021625;GI=TRPV4,TRPV4,TRPV4,TRPV4,TRPV4;FC=Synonymous_H231H,Silent,Synonymous_H265H,Silent,Synonymous_H265H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,57:110:99:1214,0,1206:50:99:0.518 chr12 110240838 rs3825394 T G 1691.99 PASS BaseQRankSum=1.652;DP=157;Dels=0.00;FS=2.848;HRun=0;HaplotypeScore=10.7251;MQ=50;MQ0=0;MQRankSum=-0.873;QD=10.78;ReadPosRankSum=-0.953;SB=-1192.83;TI=NM_001177431,NM_001177433,NM_147204,NM_001177428,NM_021625;GI=TRPV4,TRPV4,TRPV4,TRPV4,TRPV4;FC=Synonymous_R190R,Synonymous_R224R,Synonymous_R224R,Synonymous_R224R,Synonymous_R224R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,77:157:99:1722,0,1825:50:99:0.490 chr12 110874492 . G GA 173.52 R8 BaseQRankSum=0.996;DP=28;FS=0.000;HRun=9;HaplotypeScore=197.6883;MQ=49;MQ0=0;MQRankSum=-0.996;QD=6.20;ReadPosRankSum=-0.731;SB=-78.21;TI=NM_005719;GI=ARPC3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:21,6:28:41.83:216,42,0:49:42:0.222 chr12 111884608 rs3184504 T C 6587.20 PASS DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3697;MQ=54;MQ0=0;QD=29.41;SB=-3808.17;TI=NM_005475;GI=SH2B3;FC=Missense_W262R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,224:224:99:6587,482,0:54:99:1.000 chr12 111885351 . ATGGGG A 2360.27 PASS BaseQRankSum=0.881;DP=132;FS=9.890;HRun=0;HaplotypeScore=366.1539;MQ=48;MQ0=0;MQRankSum=-0.912;QD=17.88;ReadPosRankSum=0.270;SB=-1173.98;TI=NM_005475;GI=SH2B3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,35:132:99:2399,0,2367:48:99:0.294 chr12 111992031 . T TA 41.26 LowVariantFreq;R8 BaseQRankSum=0.686;DP=70;FS=1.014;HRun=14;HaplotypeScore=187.6652;MQ=53;MQ0=0;MQRankSum=0.202;QD=0.59;ReadPosRankSum=0.659;SB=-41.58;TI=NM_002973;GI=ATXN2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,11:70:79.83:80,0,942:53:41:0.190 chr12 113348870 rs1131454 G A 1106.10 PASS BaseQRankSum=-0.658;DP=113;Dels=0.00;FS=0.737;HRun=0;HaplotypeScore=5.3645;MQ=54;MQ0=0;MQRankSum=2.185;QD=9.79;ReadPosRankSum=1.992;SB=-508.10;TI=NM_002534,NM_001032409,NM_016816;GI=OAS1,OAS1,OAS1;FC=Missense_G162S,Missense_G162S,Missense_G162S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,42:113:99:1136,0,1641:54:99:0.375 chr12 113357193 rs10774671 G A 18.35 SB;LowDP BaseQRankSum=0.000;DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.720;QD=3.06;ReadPosRankSum=0.720;SB=-0.01;TI=NM_001032409,NM_016816;GI=OAS1,OAS1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,2:6:48.28:48,0,145:60:18:0.333 chr12 113357209 rs1131476 G A 96.15 SB;LowDP BaseQRankSum=-0.741;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=1.447;QD=9.62;ReadPosRankSum=-0.365;SB=-0.01;TI=NM_001032409,NM_016816;GI=OAS1,OAS1;FC=Silent,Missense_A352T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,4:10:99:126,0,207:60:96:0.400 chr12 113357237 rs1051042 G C 103.77 LowDP BaseQRankSum=-1.186;DP=11;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.143;QD=9.43;ReadPosRankSum=-0.387;SB=-40.65;TI=NM_001032409,NM_016816;GI=OAS1,OAS1;FC=Silent,Missense_R361T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,5:11:99:134,0,214:60:99:0.455 chr12 113357442 rs2660 G A 146.62 LowDP BaseQRankSum=-0.555;DP=13;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.101;QD=11.28;ReadPosRankSum=0.935;SB=-71.63;TI=NM_001032409,NM_016816;GI=OAS1,OAS1;FC=Missense_G397R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,7:13:99:177,0,174:60:99:0.538 chr12 113425154 rs1293767 C G 1285.37 PASS BaseQRankSum=-0.565;DP=85;Dels=0.00;FS=4.981;HRun=3;HaplotypeScore=2.8559;MQ=55;MQ0=0;MQRankSum=-0.334;QD=15.12;ReadPosRankSum=-0.609;SB=-508.00;TI=NM_001032731,NM_002535,NM_016817;GI=OAS2,OAS2,OAS2;FC=Missense_S163R,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,49:85:99:1315,0,989:55:99:0.576 chr12 113435450 rs1293755 A T 2171.49 PASS BaseQRankSum=-0.006;DP=212;Dels=0.00;FS=6.654;HRun=1;HaplotypeScore=4.6544;MQ=57;MQ0=0;MQRankSum=2.687;QD=10.24;ReadPosRankSum=0.694;SB=-1402.67;TI=NM_002535,NM_016817;GI=OAS2,OAS2;FC=Synonymous_V251V,Synonymous_V251V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,96:212:99:2201,0,2933:57:99:0.453 chr12 113448288 rs15895 A G 1386.80 PASS BaseQRankSum=1.856;DP=106;Dels=0.00;FS=0.729;HRun=1;HaplotypeScore=3.7878;MQ=57;MQ0=0;MQRankSum=1.273;QD=13.08;ReadPosRankSum=1.120;SB=-891.00;TI=NM_002535,NM_016817;GI=OAS2,OAS2;FC=Silent,Missense_X720W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,58:106:99:1417,0,1348:57:99:0.547 chr12 116424115 . C T 1841.70 PASS BaseQRankSum=3.188;DP=150;Dels=0.00;FS=2.065;HRun=2;HaplotypeScore=2.7880;MQ=54;MQ0=0;MQRankSum=1.909;QD=12.28;ReadPosRankSum=0.841;SB=-993.96;TI=NM_015335;GI=MED13L;FC=Missense_E1432K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,78:150:99:1872,0,1667:54:99:0.520 chr12 117685270 rs1047735 G A 2948.56 PASS BaseQRankSum=2.121;DP=252;Dels=0.00;FS=1.539;HRun=0;HaplotypeScore=10.0301;MQ=54;MQ0=0;MQRankSum=1.763;QD=11.70;ReadPosRankSum=2.553;SB=-1778.98;TI=NM_000620;GI=NOS1;FC=Synonymous_H902H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,127:252:99:2979,0,2994:54:99:0.504 chr12 117693817 rs11068428 G A 2779.25 PASS BaseQRankSum=2.257;DP=271;Dels=0.00;FS=2.043;HRun=3;HaplotypeScore=9.1190;MQ=56;MQ0=0;MQRankSum=-0.200;QD=10.26;ReadPosRankSum=0.530;SB=-1964.25;TI=NM_000620;GI=NOS1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:147,124:271:99:2809,0,3395:56:99:0.458 chr12 117701714 rs2293054 A G 908.56 PASS BaseQRankSum=2.742;DP=112;Dels=0.00;FS=4.762;HRun=0;HaplotypeScore=4.8658;MQ=54;MQ0=0;MQRankSum=0.611;QD=8.11;ReadPosRankSum=-1.430;SB=-572.21;TI=NM_000620;GI=NOS1;FC=Synonymous_I734I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,45:112:99:939,0,1564:54:99:0.402 chr12 120966921 rs3742052 A G 529.38 PASS BaseQRankSum=1.761;DP=41;Dels=0.00;FS=1.328;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=1.343;QD=12.91;ReadPosRankSum=-0.822;SB=-243.46;TI=NM_032314;GI=COQ5;FC=Synonymous_A8A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,21:41:99:559,0,510:56:99:0.512 chr12 121174899 rs3914 T C 3656.05 PASS DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3808;MQ=53;MQ0=0;QD=27.91;SB=-2353.22;TI=NM_000017;GI=ACADS;FC=Synonymous_R107R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3656,262,0:53:99:1.000 chr12 121176679 rs3915 C T 5283.50 PASS BaseQRankSum=0.505;DP=192;Dels=0.00;FS=3.522;HRun=0;HaplotypeScore=2.7331;MQ=53;MQ0=0;MQRankSum=-1.461;QD=27.52;ReadPosRankSum=-1.209;SB=-3287.90;TI=NM_000017;GI=ACADS;FC=Synonymous_R330R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,191:192:99:5283,345,0:53:99:0.995 chr12 121432117 rs56348580 G C 823.11 PASS BaseQRankSum=2.323;DP=74;Dels=0.00;FS=2.069;HRun=8;HaplotypeScore=9.2464;MQ=56;MQ0=0;MQRankSum=-0.252;QD=11.12;ReadPosRankSum=-0.920;SB=-320.09;TI=NM_000545;GI=HNF1A;FC=Synonymous_G288G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,31:74:99:853,0,1075:56:99:0.419 chr12 121437382 rs1169305 A G 1871.43 PASS DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=56;MQ0=0;QD=30.68;SB=-728.10;TI=NM_000545;GI=HNF1A;FC=Missense_S574G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1904,141,0:56:99:1.000 chr12 121600253 rs208294 T C 973.43 PASS BaseQRankSum=2.412;DP=96;Dels=0.00;FS=4.058;HRun=0;HaplotypeScore=1.8100;MQ=53;MQ0=0;MQRankSum=1.111;QD=10.14;ReadPosRankSum=0.918;SB=-401.03;TI=NR_033953,NR_033949,NR_033950,NR_033952,NM_002562,NR_033956,NR_033951,NR_033954,NR_033948,NR_033955;GI=P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7;FC=Silent,Silent,Silent,Silent,Missense_Y155H,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,40:96:99:1003,0,1307:53:99:0.417 chr12 121603856 rs208307 C G 791.26 PASS BaseQRankSum=1.533;DP=53;Dels=0.00;FS=10.941;HRun=1;HaplotypeScore=4.6932;MQ=58;MQ0=0;MQRankSum=-2.285;QD=14.93;ReadPosRankSum=-0.358;SB=-91.21;TI=NR_033953,NR_033949,NR_033950,NR_033952,NM_002562,NR_033956,NR_033951,NR_033954,NR_033948,NR_033955;GI=P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,28:53:99:821,0,622:58:99:0.538 chr12 121615103 rs1718119 G A 110.89 LowDP BaseQRankSum=-0.550;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.550;QD=15.84;ReadPosRankSum=0.000;SB=-40.65;TI=NR_033953,NR_033949,NR_033950,NR_033952,NM_002562,NR_033956,NR_033951,NR_033954,NR_033948,NR_033955;GI=P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7;FC=Silent,Silent,Silent,Silent,Missense_A348T,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,4:7:86.91:141,0,87:60:87:0.571 chr12 121622304 rs3751143 A C 1444.99 PASS BaseQRankSum=0.189;DP=104;Dels=0.00;FS=3.739;HRun=0;HaplotypeScore=3.7878;MQ=56;MQ0=0;MQRankSum=1.372;QD=13.89;ReadPosRankSum=-0.072;SB=-716.76;TI=NR_033953,NR_033949,NR_033950,NR_033952,NM_002562,NR_033956,NR_033951,NR_033954,NR_033948,NR_033955;GI=P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7;FC=Silent,Silent,Silent,Silent,Missense_E496A,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,53:104:99:1475,0,1284:56:99:0.510 chr12 121622520 rs1653624 A T 3795.58 PASS DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5487;MQ=57;MQ0=0;QD=27.11;SB=-2221.35;TI=NR_033953,NR_033949,NR_033950,NR_033952,NM_002562,NR_033956,NR_033951,NR_033954,NR_033948,NR_033955;GI=P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7;FC=Silent,Silent,Silent,Silent,Missense_N568I,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,140:140:99:3796,274,0:57:99:1.000 chr12 121622563 rs1621388 G A 1398.31 PASS BaseQRankSum=2.592;DP=116;Dels=0.01;FS=0.837;HRun=2;HaplotypeScore=10.0421;MQ=56;MQ0=0;MQRankSum=0.479;QD=12.05;ReadPosRankSum=2.155;SB=-442.66;TI=NR_033953,NR_033949,NR_033950,NR_033952,NM_002562,NR_033956,NR_033951,NR_033954,NR_033948,NR_033955;GI=P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7,P2RX7;FC=Silent,Silent,Silent,Silent,Synonymous_P582P,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,54:115:99:1428,0,1847:56:99:0.470 chr12 121659917 rs25642 G A 865.31 PASS BaseQRankSum=-0.472;DP=102;Dels=0.00;FS=0.786;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=2.248;QD=8.48;ReadPosRankSum=-0.522;SB=-435.39;TI=NM_002560;GI=P2RX4;FC=Synonymous_V125V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,35:102:99:895,0,1546:53:99:0.343 chr12 121660787 rs25643 T C 1003.64 PASS BaseQRankSum=0.434;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5472;MQ=47;MQ0=0;MQRankSum=-2.747;QD=10.79;ReadPosRankSum=0.342;SB=-679.03;TI=NM_002560;GI=P2RX4;FC=Synonymous_S155S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,47:93:99:1034,0,1118:47:99:0.505 chr12 121670792 rs2071272 A G 814.78 PASS BaseQRankSum=-3.467;DP=86;Dels=0.00;FS=1.848;HRun=0;HaplotypeScore=1.8665;MQ=55;MQ0=0;MQRankSum=1.329;QD=9.47;ReadPosRankSum=-1.709;SB=-361.12;TI=NM_002560;GI=P2RX4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,34:86:99:845,0,1249:55:99:0.395 chr12 121678327 . CT C 130.80 R8 BaseQRankSum=-1.164;DP=37;FS=1.421;HRun=13;HaplotypeScore=199.5281;MQ=49;MQ0=0;MQRankSum=-0.122;QD=3.54;ReadPosRankSum=-0.608;SB=-70.45;TI=NM_172226,NM_006549,NM_153499,NM_153500,NM_172216;GI=CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,9:37:99:170,0,312:49:99:0.346 chr12 121691088 rs3815990 G T 1433.88 PASS BaseQRankSum=0.449;DP=119;Dels=0.00;FS=1.547;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.891;QD=12.05;ReadPosRankSum=1.555;SB=-627.92;TI=NM_172226,NM_006549,NM_153499,NM_153500,NM_172216,NM_172215,NM_172214;GI=CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2;FC=Synonymous_I365I,Synonymous_I365I,Synonymous_I365I,Synonymous_I365I,Synonymous_I365I,Synonymous_I365I,Synonymous_I365I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,58:119:99:1464,0,1591:54:99:0.487 chr12 121701681 rs2230776 G A 3124.70 PASS BaseQRankSum=2.417;DP=239;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9068;MQ=54;MQ0=0;MQRankSum=1.655;QD=13.07;ReadPosRankSum=-0.428;SB=-1990.99;TI=NM_172226,NM_006549,NM_153499,NM_153500,NM_172216,NM_172215,NM_172214;GI=CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2;FC=Synonymous_P229P,Synonymous_P229P,Synonymous_P229P,Synonymous_P229P,Synonymous_P229P,Synonymous_P229P,Synonymous_P229P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,121:239:99:3155,0,2893:54:99:0.506 chr12 121712077 rs3817190 T A 1055.56 PASS BaseQRankSum=1.985;DP=74;Dels=0.00;FS=4.738;HRun=0;HaplotypeScore=6.3332;MQ=59;MQ0=0;MQRankSum=-0.094;QD=14.26;ReadPosRankSum=0.039;SB=-552.84;TI=NM_172226,NM_006549,NM_153499,NM_153500,NM_172216,NM_172215,NM_172214;GI=CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2;FC=Missense_T85S,Missense_T85S,Missense_T85S,Missense_T85S,Missense_T85S,Missense_T85S,Missense_T85S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,39:74:99:1086,0,813:59:99:0.534 chr12 121712301 rs28360477 C T 466.65 PASS BaseQRankSum=0.934;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=1.920;QD=17.95;ReadPosRankSum=-0.259;SB=-37.80;TI=NM_172226,NM_006549,NM_153499,NM_153500,NM_172216,NM_172215,NM_172214;GI=CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2,CAMKK2;FC=Missense_S10N,Missense_S10N,Missense_S10N,Missense_S10N,Missense_S10N,Missense_S10N,Missense_S10N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,15:26:99:497,0,359:60:99:0.577 chr12 122064773 . CCCGCCA C 2457.04 PASS DP=32;FS=0.000;HRun=0;HaplotypeScore=9.0961;MQ=54;MQ0=0;QD=76.78;SB=-1015.72;TI=NM_032790;GI=ORAI1;FC=2AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,30:32:93.32:2499,93,0:54:93:0.938 chr12 122079189 rs3741595 C T 1902.58 PASS DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=36.59;SB=-724.89;TI=NM_032790;GI=ORAI1;FC=Synonymous_I184I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:99:1936,144,0:59:99:1.000 chr12 122079441 rs3825175 T C 2807.27 PASS DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=32.64;SB=-1232.87;TI=NM_032790;GI=ORAI1;FC=Synonymous_T268T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2840,211,0:56:99:1.000 chr12 122295335 rs1154510 T C 2804.89 PASS DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=54;MQ0=0;QD=25.97;SB=-2056.50;TI=NM_002150,NM_001171993;GI=HPD,HPD;FC=Missense_T33A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:2838,205,0:54:99:1.000 chr12 122692820 rs12870 T C 777.66 PASS BaseQRankSum=0.187;DP=53;Dels=0.00;FS=1.069;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.810;QD=14.67;ReadPosRankSum=0.898;SB=-394.03;TI=NM_138929,NR_024601,NR_024600,NM_019887;GI=DIABLO,DIABLO,DIABLO,DIABLO;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,26:53:99:808,0,781:57:99:0.491 chr12 123738494 rs2280424 C T 492.66 PASS BaseQRankSum=-0.300;DP=48;Dels=0.00;FS=4.572;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.445;QD=10.26;ReadPosRankSum=-1.583;SB=-275.27;TI=NM_152269,NM_001194995,NM_001143905;GI=C12orf65,C12orf65,C12orf65;FC=Synonymous_I91I,Synonymous_I91I,Synonymous_I91I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,22:48:99:523,0,715:58:99:0.458 chr12 123794104 rs3825141 G T 1766.12 PASS BaseQRankSum=-1.209;DP=105;Dels=0.00;FS=8.042;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=2.232;QD=16.82;ReadPosRankSum=-1.398;SB=-662.96;TI=NM_001167856,NM_018183;GI=SBNO1,SBNO1;FC=Synonymous_R1157R,Synonymous_R1156R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,62:105:99:1796,0,1065:57:99:0.590 chr12 123798270 rs63621660 CA C 1072.57 R8 BaseQRankSum=0.513;DP=94;FS=0.000;HRun=9;HaplotypeScore=99.3194;MQ=52;MQ0=0;MQRankSum=-1.244;QD=11.41;ReadPosRankSum=0.982;SB=-515.02;TI=NM_001167856,NM_018183;GI=SBNO1,SBNO1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,43:94:99:1112,0,1210:52:99:0.457 chr12 123799938 rs61751327 C T 1344.19 PASS BaseQRankSum=-0.603;DP=118;Dels=0.00;FS=0.692;HRun=0;HaplotypeScore=6.2586;MQ=54;MQ0=0;MQRankSum=-2.484;QD=11.39;ReadPosRankSum=1.110;SB=-871.18;TI=NM_001167856,NM_018183;GI=SBNO1,SBNO1;FC=Synonymous_R1034R,Synonymous_R1033R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,57:118:99:1374,0,1546:54:99:0.487 chr12 123799974 rs6488868 A G 3648.89 PASS DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=29.67;SB=-2376.55;TI=NM_001167856,NM_018183;GI=SBNO1,SBNO1;FC=Synonymous_G1022G,Synonymous_G1021G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:3649,265,0:53:99:1.000 chr12 123810873 rs61388686 G A 1096.57 PASS BaseQRankSum=0.534;DP=138;Dels=0.00;FS=3.209;HRun=1;HaplotypeScore=4.4922;MQ=53;MQ0=0;MQRankSum=-1.938;QD=7.95;ReadPosRankSum=-1.938;SB=-632.50;TI=NM_001167856,NM_018183;GI=SBNO1,SBNO1;FC=Synonymous_I567I,Synonymous_I566I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,50:138:99:1127,0,2353:53:99:0.362 chr12 123879666 rs61955119 A G 1375.76 PASS BaseQRankSum=1.832;DP=202;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4426;MQ=50;MQ0=1;MQRankSum=-9.637;QD=6.81;ReadPosRankSum=0.123;SB=-449.80;TI=NM_020382;GI=SETD8;FC=Missense_K121R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,73:202:99:1406,0,3754:50:99:0.361 chr12 123879668 rs61955120 G C 1255.48 PASS BaseQRankSum=1.966;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4426;MQ=50;MQ0=1;MQRankSum=-9.372;QD=6.41;ReadPosRankSum=0.992;SB=-392.10;TI=NM_020382;GI=SETD8;FC=Missense_G122R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:127,68:196:99:1285,0,3743:50:99:0.349 chr12 123879768 . A C 368.77 LowVariantFreq;SB BaseQRankSum=2.749;DP=184;Dels=0.00;FS=7.768;HRun=1;HaplotypeScore=10.7888;MQ=52;MQ0=5;MQRankSum=-7.531;QD=2.00;ReadPosRankSum=-5.928;SB=-0.01;TI=NM_020382;GI=SETD8;FC=Missense_Q155P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:153,30:184:99:399,0,4244:52:99:0.164 chr12 123879769 . A G 372.10 LowVariantFreq;SB BaseQRankSum=1.448;DP=181;Dels=0.00;FS=7.758;HRun=1;HaplotypeScore=10.7888;MQ=52;MQ0=5;MQRankSum=-7.426;QD=2.06;ReadPosRankSum=-6.317;SB=-0.01;TI=NM_020382;GI=SETD8;FC=Synonymous_Q155Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:151,30:181:99:402,0,4134:52:99:0.166 chr12 123879800 . G C 586.49 SB BaseQRankSum=0.583;DP=181;Dels=0.00;FS=39.531;HRun=6;HaplotypeScore=11.0451;MQ=51;MQ0=0;MQRankSum=-9.458;QD=3.24;ReadPosRankSum=-8.254;SB=-0.01;TI=NM_020382;GI=SETD8;FC=Missense_A166P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,39:181:99:616,0,4088:51:99:0.217 chr12 123889486 rs61955123 G C 312.22 LowVariantFreq BaseQRankSum=1.186;DP=283;Dels=0.00;FS=0.651;HRun=3;HaplotypeScore=12.6141;MQ=52;MQ0=0;MQRankSum=-8.725;QD=1.10;ReadPosRankSum=0.001;SB=-124.98;TI=NM_020382;GI=SETD8;FC=Missense_R238P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:245,38:283:99:342,0,6109:52:99:0.134 chr12 123889492 rs61955124 A C 332.42 LowVariantFreq BaseQRankSum=0.797;DP=277;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.4107;MQ=53;MQ0=0;MQRankSum=-8.924;QD=1.20;ReadPosRankSum=1.320;SB=-140.76;TI=NM_020382;GI=SETD8;FC=Missense_D240A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:239,38:277:99:362,0,5806:53:99:0.137 chr12 123892095 rs61955126;rs77446169 T C 1551.23 PASS BaseQRankSum=3.418;DP=286;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0335;MQ=51;MQ0=2;MQRankSum=-6.542;QD=5.42;ReadPosRankSum=-1.167;SB=-1120.18;TI=NM_020382;GI=SETD8;FC=Missense_C302R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:202,83:286:99:1581,0,4989:51:99:0.291 chr12 123892186 rs61955127;rs77488308 T C 1013.46 PASS BaseQRankSum=3.788;DP=196;Dels=0.00;FS=4.846;HRun=2;HaplotypeScore=2.6274;MQ=51;MQ0=3;MQRankSum=-2.760;QD=5.17;ReadPosRankSum=-1.059;SB=-750.60;TI=NM_020382;GI=SETD8;FC=Missense_L332P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:133,63:196:99:1043,0,3545:51:99:0.321 chr12 123892235 rs2659398;rs61955128 G A 229.29 SB BaseQRankSum=-0.928;DP=105;Dels=0.00;FS=8.788;HRun=0;HaplotypeScore=0.8321;MQ=50;MQ0=7;MQRankSum=-2.408;QD=2.18;ReadPosRankSum=-0.908;SB=-0.01;TI=NM_020382;GI=SETD8;FC=Synonymous_P348P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,22:105:99:259,0,2436:50:99:0.210 chr12 124209332 rs1139789 T C 1235.62 PASS DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.86;SB=-646.50;TI=NM_012463;GI=ATP6V0A2;FC=Synonymous_N142N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:90.30:1269,90,0:53:90:1.000 chr12 124210782 rs1399961 T C 2815.50 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=53;MQ0=0;QD=26.56;SB=-1949.47;TI=NM_012463;GI=ATP6V0A2;FC=Synonymous_S157S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2849,202,0:53:99:1.000 chr12 124229429 rs7135542 T C 4582.78 PASS DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=53;MQ0=0;QD=27.77;SB=-3140.29;TI=NM_012463;GI=ATP6V0A2;FC=Unknown_505;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,165:165:99:4583,328,0:53:99:1.000 chr12 125284748 rs5888 A G 2958.67 PASS BaseQRankSum=1.643;DP=116;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2823;MQ=56;MQ0=0;MQRankSum=0.657;QD=25.51;ReadPosRankSum=0.030;SB=-2222.53;TI=NM_001082959,NM_005505;GI=SCARB1,SCARB1;FC=Synonymous_A350A,Synonymous_A350A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,115:116:99:2992,214,0:56:99:0.991 chr12 125292413 rs5892 G A 1032.29 PASS BaseQRankSum=2.175;DP=92;Dels=0.00;FS=1.718;HRun=2;HaplotypeScore=8.4878;MQ=53;MQ0=0;MQRankSum=0.449;QD=11.22;ReadPosRankSum=0.246;SB=-673.33;TI=NM_001082959,NM_005505;GI=SCARB1,SCARB1;FC=Synonymous_F301F,Synonymous_F301F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,46:92:99:1062,0,1036:53:99:0.500 chr12 125348263 rs4238001 C T 661.34 PASS BaseQRankSum=-0.653;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9201;MQ=57;MQ0=0;MQRankSum=0.412;QD=13.23;ReadPosRankSum=0.613;SB=-288.36;TI=NM_001082959,NM_005505;GI=SCARB1,SCARB1;FC=Missense_G2S,Missense_G2S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,27:50:99:691,0,529:57:99:0.551 chr12 125434580 rs4447263 C T 1968.57 PASS BaseQRankSum=1.349;DP=174;Dels=0.00;FS=3.692;HRun=0;HaplotypeScore=6.2538;MQ=53;MQ0=0;MQRankSum=0.996;QD=11.31;ReadPosRankSum=-1.747;SB=-1078.63;TI=NM_032656;GI=DHX37;FC=Missense_R1081Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,82:174:99:1999,0,2534:53:99:0.471 chr12 125434716 rs4078216 G A 1458.07 PASS BaseQRankSum=0.789;DP=156;Dels=0.00;FS=10.193;HRun=0;HaplotypeScore=8.2694;MQ=57;MQ0=0;MQRankSum=0.086;QD=9.35;ReadPosRankSum=0.236;SB=-705.57;TI=NM_032656;GI=DHX37;FC=Synonymous_A1065A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,61:156:99:1488,0,2656:57:99:0.394 chr12 125437019 rs4429156 T C 1400.13 PASS BaseQRankSum=-1.864;DP=116;Dels=0.00;FS=1.500;HRun=2;HaplotypeScore=7.2767;MQ=52;MQ0=0;MQRankSum=2.841;QD=12.07;ReadPosRankSum=1.041;SB=-824.94;TI=NM_032656;GI=DHX37;FC=Synonymous_A931A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,58:116:99:1430,0,1311:52:99:0.500 chr12 125438516 rs4516060 T C 1083.72 PASS BaseQRankSum=1.402;DP=91;Dels=0.00;FS=1.752;HRun=1;HaplotypeScore=10.6048;MQ=57;MQ0=0;MQRankSum=0.862;QD=11.91;ReadPosRankSum=2.577;SB=-718.15;TI=NM_032656;GI=DHX37;FC=Missense_S869G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,44:91:99:1114,0,1222:57:99:0.484 chr12 125438523 rs4258464 C T 1070.90 PASS BaseQRankSum=0.421;DP=88;Dels=0.00;FS=2.832;HRun=1;HaplotypeScore=10.5748;MQ=57;MQ0=0;MQRankSum=0.747;QD=12.17;ReadPosRankSum=1.665;SB=-727.12;TI=NM_032656;GI=DHX37;FC=Synonymous_E866E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,44:88:99:1101,0,1190:57:99:0.500 chr12 125438549 rs4606565 A G 916.33 PASS BaseQRankSum=0.186;DP=64;Dels=0.00;FS=2.105;HRun=4;HaplotypeScore=5.3202;MQ=57;MQ0=0;MQRankSum=0.669;QD=14.32;ReadPosRankSum=-0.945;SB=-524.40;TI=NM_032656;GI=DHX37;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,34:64:99:946,0,913:57:99:0.540 chr12 125444975 rs4765007 T C 1258.32 PASS BaseQRankSum=0.263;DP=93;Dels=0.00;FS=0.812;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=-1.079;QD=13.53;ReadPosRankSum=0.059;SB=-732.85;TI=NM_032656;GI=DHX37;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,56:93:99:1288,0,921:56:99:0.602 chr12 125448960 rs4076777 C T 1705.47 PASS BaseQRankSum=2.523;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4941;MQ=54;MQ0=0;MQRankSum=1.753;QD=12.73;ReadPosRankSum=0.635;SB=-818.80;TI=NM_032656;GI=DHX37;FC=Synonymous_T675T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,70:134:99:1735,0,1546:54:99:0.522 chr12 125453115 rs11057939 C T 3409.85 PASS BaseQRankSum=1.917;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=49;MQ0=0;MQRankSum=-0.432;QD=25.64;ReadPosRankSum=0.553;SB=-2158.73;TI=NM_032656;GI=DHX37;FC=Missense_R458Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,130:133:99:3410,171,0:49:99:0.977 chr12 132682481 rs12308155 T G 3020.42 PASS BaseQRankSum=1.244;DP=268;Dels=0.00;FS=1.540;HRun=1;HaplotypeScore=4.5423;MQ=54;MQ0=1;MQRankSum=1.922;QD=11.27;ReadPosRankSum=1.507;SB=-1594.48;TI=NM_021808,NM_001122636;GI=GALNT9,GALNT9;FC=Synonymous_G141G,Synonymous_G507G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:137,130:268:99:3050,0,3508:54:99:0.487 chr12 132682484 rs12306514 A G 2955.41 PASS BaseQRankSum=0.686;DP=267;Dels=0.00;FS=1.541;HRun=0;HaplotypeScore=4.4156;MQ=54;MQ0=1;MQRankSum=2.653;QD=11.07;ReadPosRankSum=1.725;SB=-1597.92;TI=NM_021808,NM_001122636;GI=GALNT9,GALNT9;FC=Synonymous_D140D,Synonymous_D506D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:139,128:267:99:2985,0,3524:54:99:0.479 chr12 132688137 rs7486927 A G 1877.33 PASS BaseQRankSum=0.101;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3830;MQ=52;MQ0=0;MQRankSum=-3.001;QD=11.88;ReadPosRankSum=-1.717;SB=-1360.02;TI=NM_021808,NM_001122636;GI=GALNT9,GALNT9;FC=Synonymous_Y26Y,Synonymous_Y392Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,83:158:99:1907,0,1807:52:99:0.525 chr12 133287459 rs7486453 C T 98.15 LowGQX;LowGQ;LowDP DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43;MQ0=0;QD=19.63;SB=-79.33;TI=NM_138575,NM_001170543,NM_001170544;GI=PGAM5,PGAM5,PGAM5;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:9.03:130,9,0:43:9:1.000 chr12 133294333 rs61978651 C T 1355.79 PASS BaseQRankSum=0.654;DP=45;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=1.8938;MQ=57;MQ0=0;MQRankSum=-1.424;QD=30.13;ReadPosRankSum=-1.501;SB=-694.49;TI=NM_138575,NM_001170543,NM_001170544;GI=PGAM5,PGAM5,PGAM5;FC=Synonymous_G178G,Synonymous_G178G,Synonymous_G178G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,44:45:71.34:1389,71,0:57:71:0.978 chr12 133363376 rs7976379 G T 2679.33 PASS DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1838;MQ=50;MQ0=0;QD=27.34;SB=-1593.28;TI=NM_005895,NM_001172557;GI=GOLGA3,GOLGA3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:98:99:2712,205,0:50:99:1.000 chr12 133384864 rs3741486 G A 2669.05 PASS DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=58;MQ0=0;QD=30.33;SB=-1370.03;TI=NM_005895,NM_001172557;GI=GOLGA3,GOLGA3;FC=Missense_P264L,Missense_P264L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2702,196,0:58:99:1.000 chr12 133393323 rs2291256 C T 4332.10 PASS BaseQRankSum=1.367;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5479;MQ=56;MQ0=0;MQRankSum=-0.404;QD=32.33;ReadPosRankSum=0.820;SB=-1999.65;TI=NM_005895,NM_001172557;GI=GOLGA3,GOLGA3;FC=Missense_G70E,Missense_G70E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,132:134:99:4332,296,0:56:99:0.992 chr12 133423695 rs2306537 A G 3154.88 PASS DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.17;SB=-1908.98;TI=NM_001161344,NM_001161345,NM_001161347,NM_001161346,NM_018223;GI=CHFR,CHFR,CHFR,CHFR,CHFR;FC=Synonymous_L569L,Synonymous_L568L,Synonymous_L477L,Synonymous_L557L,Synonymous_L528L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:3188,226,0:53:99:1.000 chr12 133433173 rs2062163 T C 3084.03 PASS DP=105;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1253;MQ=57;MQ0=0;QD=29.37;SB=-1947.28;TI=NM_001161344,NM_001161345,NM_001161347,NM_001161346,NM_018223;GI=CHFR,CHFR,CHFR,CHFR,CHFR;FC=Synonymous_R382R,Synonymous_R382R,Synonymous_R290R,Synonymous_R370R,Synonymous_R341R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:3117,229,0:57:99:1.000 chr12 133435716 rs35011845 T G 2402.61 PASS DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.95;SB=-1004.66;TI=NM_001161344,NM_001161345,NM_001161347,NM_001161346,NM_018223;GI=CHFR,CHFR,CHFR,CHFR,CHFR;FC=Synonymous_P295P,Synonymous_P295P,Synonymous_P203P,Synonymous_P283P,Synonymous_P254P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2436,181,0:55:99:1.000 chr13 20716272 . C A 3.16 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.351;DP=18;Dels=0.00;FS=3.039;HRun=0;HaplotypeScore=0.9983;MQ=57;MQ0=0;MQRankSum=0.351;QD=0.18;ReadPosRankSum=-1.475;SB=-0.01;TI=NM_021954;GI=GJA3;FC=Missense_A386S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,2:18:30.29:30,0,514:57:3:0.111 chr13 20716411 rs11617415 C T 807.13 PASS DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8635;MQ=54;MQ0=0;QD=26.90;SB=-466.71;TI=NM_021954;GI=GJA3;FC=Synonymous_A339A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,30:30:63.20:840,63,0:54:63:1.000 chr13 20716533 rs968566 G T 672.30 PASS DP=22;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.6689;MQ=57;MQ0=0;QD=30.56;SB=-121.30;TI=NM_021954;GI=GJA3;FC=Missense_L299M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,22:22:54.16:705,54,0:57:54:1.000 chr13 22275394 rs9509841 A G 3680.96 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8924;MQ=56;MQ0=0;QD=31.73;SB=-1227.91;TI=NM_002010;GI=FGF9;FC=Synonymous_S149S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:116:99:3681,271,0:56:99:1.000 chr13 22275583 rs9509842 G A 2358.80 PASS DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=60;MQ0=0;QD=31.45;SB=-788.72;TI=NM_002010;GI=FGF9;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2392,178,0:60:99:1.000 chr13 23824818 rs17314986 G A 1177.37 PASS BaseQRankSum=0.452;DP=80;Dels=0.00;FS=4.421;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=1.873;QD=14.72;ReadPosRankSum=0.701;SB=-705.85;TI=NM_000231;GI=SGCG;FC=Missense_R116H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,50:80:99:1207,0,694:51:99:0.625 chr13 23898509 rs1800353 T C 1826.53 PASS BaseQRankSum=1.613;DP=113;Dels=0.00;FS=2.630;HRun=0;HaplotypeScore=4.6794;MQ=57;MQ0=0;MQRankSum=1.999;QD=16.16;ReadPosRankSum=-0.514;SB=-1019.25;TI=NM_000231;GI=SGCG;FC=Synonymous_L235L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,71:113:99:1857,0,1121:57:99:0.628 chr13 23898664 rs1800354 A G 5940.75 PASS DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5483;MQ=54;MQ0=0;QD=28.84;SB=-3618.73;TI=NM_000231;GI=SGCG;FC=Missense_N287S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,206:206:99:5941,427,0:54:99:1.000 chr13 23905711 rs2737699 A G 3348.88 PASS BaseQRankSum=1.643;DP=242;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0590;MQ=57;MQ0=0;MQRankSum=1.222;QD=13.84;ReadPosRankSum=-1.160;SB=-1972.96;TI=NM_014363;GI=SACS;FC=Synonymous_L4102L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,122:242:99:3349,0,3277:57:99:0.504 chr13 23907677 rs2737701 C T 8122.98 PASS DP=265;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5981;MQ=56;MQ0=0;QD=30.65;SB=-4607.23;TI=NM_014363;GI=SACS;FC=Synonymous_Q3446Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,264:265:99:8123,593,0:56:99:1.000 chr13 23907909 rs17078605 A G 2716.93 PASS BaseQRankSum=-2.072;DP=192;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.0257;MQ=58;MQ0=0;MQRankSum=0.834;QD=14.15;ReadPosRankSum=-0.041;SB=-771.16;TI=NM_014363;GI=SACS;FC=Missense_V3369A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,94:192:99:2747,0,2812:58:99:0.492 chr13 23909162 rs9552929 A G 2321.10 PASS BaseQRankSum=1.802;DP=177;Dels=0.00;FS=12.462;HRun=0;HaplotypeScore=2.7605;MQ=57;MQ0=0;MQRankSum=0.577;QD=13.11;ReadPosRankSum=-1.689;SB=-656.39;TI=NM_014363;GI=SACS;FC=Synonymous_V2951V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,79:177:99:2351,0,2730:57:99:0.446 chr13 23911820 rs4143768 A G 1294.15 PASS BaseQRankSum=0.593;DP=116;Dels=0.00;FS=3.711;HRun=1;HaplotypeScore=5.6813;MQ=59;MQ0=0;MQRankSum=1.052;QD=11.16;ReadPosRankSum=-1.477;SB=-444.14;TI=NM_014363;GI=SACS;FC=Synonymous_I2065I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,48:116:99:1324,0,2057:59:99:0.417 chr13 23929842 rs41315020 T C 3086.09 PASS BaseQRankSum=0.456;DP=236;Dels=0.00;FS=2.906;HRun=1;HaplotypeScore=1.7608;MQ=54;MQ0=0;MQRankSum=0.006;QD=13.08;ReadPosRankSum=1.198;SB=-1893.30;TI=NM_014363;GI=SACS;FC=Synonymous_A303A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,117:236:99:3116,0,3209:54:99:0.496 chr13 24823699 rs41287016 G A 1778.63 PASS BaseQRankSum=-0.663;DP=185;Dels=0.00;FS=2.651;HRun=0;HaplotypeScore=8.3451;MQ=56;MQ0=0;MQRankSum=0.819;QD=9.61;ReadPosRankSum=-1.149;SB=-927.69;TI=NM_001166271,NM_153023;GI=SPATA13,SPATA13;FC=Missense_G580S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,79:185:99:1809,0,2567:56:99:0.429 chr13 24876752 rs33990382 T C 904.42 PASS BaseQRankSum=0.937;DP=103;Dels=0.00;FS=2.694;HRun=3;HaplotypeScore=0.8321;MQ=50;MQ0=0;MQRankSum=-1.557;QD=8.78;ReadPosRankSum=2.037;SB=-597.41;TI=NM_001166271,NM_153023;GI=SPATA13,SPATA13;FC=Synonymous_P1225P,Synonymous_P600P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,44:103:99:934,0,1455:50:99:0.427 chr13 25466774 rs9318917 T C 3005.28 PASS BaseQRankSum=1.630;DP=102;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=8.1510;MQ=53;MQ0=0;MQRankSum=1.630;QD=29.46;ReadPosRankSum=-0.068;SB=-1329.82;TI=NM_018451;GI=CENPJ;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,101:102:99:3038,229,0:53:99:0.990 chr13 25479541 rs17402892 A C 2699.34 PASS DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=35.52;SB=-397.33;TI=NM_018451;GI=CENPJ;FC=Missense_S879A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2732,205,0:59:99:1.000 chr13 25486911 rs9511510 G T 4285.19 PASS BaseQRankSum=1.369;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7770;MQ=55;MQ0=0;MQRankSum=-1.393;QD=29.97;ReadPosRankSum=-1.538;SB=-2063.85;TI=NM_018451;GI=CENPJ;FC=Missense_P85T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,142:143:99:4285,277,0:55:99:0.993 chr13 26043182 rs7317185 A C 768.40 PASS BaseQRankSum=1.223;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;MQRankSum=-0.022;QD=12.60;ReadPosRankSum=-0.485;SB=-416.42;TI=NM_016529;GI=ATP8A2;FC=Synonymous_G48G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,33:61:99:798,0,627:50:99:0.541 chr13 26125651 rs34018109 G A 1599.78 PASS BaseQRankSum=-1.160;DP=136;Dels=0.00;FS=7.091;HRun=0;HaplotypeScore=2.7776;MQ=56;MQ0=0;MQRankSum=0.726;QD=11.76;ReadPosRankSum=-2.722;SB=-505.76;TI=NM_016529;GI=ATP8A2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,61:136:99:1630,0,1899:56:99:0.449 chr13 26144896 rs17729346 C T 1101.51 PASS BaseQRankSum=1.373;DP=113;Dels=0.00;FS=1.607;HRun=0;HaplotypeScore=8.8586;MQ=54;MQ0=0;MQRankSum=1.003;QD=9.75;ReadPosRankSum=-0.627;SB=-545.53;TI=NM_016529;GI=ATP8A2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,50:113:99:1132,0,1474:54:99:0.442 chr13 26148966 rs6491066 C T 3439.40 PASS DP=132;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=26.06;SB=-2401.18;TI=NM_016529;GI=ATP8A2;FC=Synonymous_F561F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:132:99:3439,241,0:55:99:1.000 chr13 26155953 rs7335339 G C 1132.30 PASS DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=56;MQ0=0;QD=30.60;SB=-393.83;TI=NM_016529;GI=ATP8A2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,36:37:84.28:1165,84,0:56:84:1.000 chr13 26273385 rs6491088 G C 6766.34 PASS DP=269;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0699;MQ=52;MQ0=0;QD=25.15;SB=-4927.56;TI=NM_016529;GI=ATP8A2;FC=Synonymous_L762L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,269:269:99:6766,473,0:52:99:1.000 chr13 27239161 rs977351 A G 979.75 PASS BaseQRankSum=1.023;DP=100;Dels=0.00;FS=0.767;HRun=0;HaplotypeScore=8.4645;MQ=57;MQ0=0;MQRankSum=1.561;QD=9.80;ReadPosRankSum=1.701;SB=-638.23;TI=NM_006646;GI=WASF3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,42:100:99:1010,0,1361:57:99:0.420 chr13 27250823 rs3764108 T C 502.74 PASS BaseQRankSum=0.819;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5479;MQ=56;MQ0=0;MQRankSum=2.288;QD=7.39;ReadPosRankSum=0.439;SB=-214.66;TI=NM_006646;GI=WASF3;FC=Synonymous_H226H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,22:68:99:533,0,1297:56:99:0.324 chr13 28143229 rs8002697 A G 1470.56 PASS BaseQRankSum=1.267;DP=134;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.3645;MQ=51;MQ0=1;MQRankSum=0.263;QD=10.97;ReadPosRankSum=-1.042;SB=-975.16;TI=NM_153371;GI=LNX2;FC=Missense_S198P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,67:134:99:1501,0,1596:51:99:0.500 chr13 28239940 rs11029 G C 6913.48 PASS DP=218;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6000;MQ=56;MQ0=0;QD=31.71;SB=-4072.31;TI=NM_152705;GI=POLR1D;FC=Synonymous_A73A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,218:218:99:6913,506,0:56:99:1.000 chr13 28239970 rs14105 G A 5992.08 PASS DP=199;Dels=0.01;FS=0.000;HRun=2;HaplotypeScore=15.4213;MQ=56;MQ0=0;QD=30.11;SB=-3652.78;TI=NM_152705;GI=POLR1D;FC=Synonymous_P83P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,198:198:99:5992,436,0:56:99:1.000 chr13 28610183 rs2491231 A G 1080.06 PASS BaseQRankSum=-0.004;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=53;MQ0=0;MQRankSum=-1.957;QD=11.37;ReadPosRankSum=-0.153;SB=-619.20;TI=NM_004119;GI=FLT3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,45:95:99:1110,0,1218:53:99:0.474 chr13 28624294 rs1933437 G A 1116.37 PASS BaseQRankSum=0.481;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=52;MQ0=0;MQRankSum=0.573;QD=11.39;ReadPosRankSum=-0.673;SB=-538.71;TI=NM_004119;GI=FLT3;FC=Missense_T227M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,46:98:99:1146,0,1254:52:99:0.469 chr13 28636084 rs7338903 G A 3655.09 PASS DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0588;MQ=53;MQ0=0;QD=28.78;SB=-2052.76;TI=NM_004119;GI=FLT3;FC=Synonymous_D96D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:3655,265,0:53:99:1.000 chr13 28674628 rs12872889 T C 27.23 SB;LowDP BaseQRankSum=1.589;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=1.589;QD=3.40;ReadPosRankSum=-0.572;SB=-0.01;TI=NM_004119;GI=FLT3;FC=Missense_D7G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,2:8:57.21:57,0,217:60:27:0.250 chr13 28883061 rs7993418 G A 2383.14 PASS DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=55;MQ0=0;QD=27.08;SB=-1371.95;TI=NM_002019;GI=FLT1;FC=Synonymous_Y1213Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2416,172,0:55:99:1.000 chr13 28964198 rs17537350 C T 584.33 PASS BaseQRankSum=1.054;DP=39;Dels=0.00;FS=1.323;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=2.382;QD=14.98;ReadPosRankSum=2.526;SB=-373.69;TI=NM_002019,NM_001160030,NM_001159920;GI=FLT1,FLT1,FLT1;FC=Synonymous_T568T,Synonymous_T568T,Synonymous_T568T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,24:39:99:614,0,393:58:99:0.615 chr13 30091714 rs2482089 G A 6007.52 PASS BaseQRankSum=2.382;DP=183;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=17.0602;MQ=56;MQ0=0;MQRankSum=2.301;QD=32.83;ReadPosRankSum=-0.898;SB=-1664.83;TI=NM_003045;GI=SLC7A1;FC=Synonymous_L502L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,180:183:99:6008,448,0:56:99:0.989 chr13 30091819 rs2482090 G C 6681.17 PASS BaseQRankSum=1.688;DP=236;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=11.7455;MQ=57;MQ0=0;MQRankSum=-0.602;QD=28.31;ReadPosRankSum=0.411;SB=-4228.45;TI=NM_003045;GI=SLC7A1;FC=Synonymous_G467G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,235:236:99:6681,482,0:57:99:0.996 chr13 31287979 . G GTA 4661.65 PASS BaseQRankSum=-1.772;DP=115;FS=3.748;HRun=0;HaplotypeScore=184.3382;MQ=59;MQ0=0;MQRankSum=2.030;QD=40.54;ReadPosRankSum=-1.924;SB=-1661.89 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:8,107:115:99:4662,205,0:59:99:0.930 chr13 31821992 rs4943266 T C 1661.53 PASS DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=29.15;SB=-740.65;TI=NM_194318;GI=B3GALTL;FC=Unknown_116;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:57:99:1695,123,0:57:99:1.000 chr13 31891746 rs1041073 G A 1920.63 PASS BaseQRankSum=0.912;DP=141;Dels=0.00;FS=3.172;HRun=1;HaplotypeScore=2.7748;MQ=52;MQ0=0;MQRankSum=-0.006;QD=13.62;ReadPosRankSum=-0.255;SB=-1307.57;TI=NM_194318;GI=B3GALTL;FC=Missense_E370K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,85:141:99:1951,0,1348:52:99:0.603 chr13 32360547 rs7325513 A G 1044.68 PASS BaseQRankSum=0.587;DP=96;Dels=0.00;FS=0.817;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=2.100;QD=10.88;ReadPosRankSum=1.557;SB=-459.48;TI=NM_130806,NM_001166058;GI=RXFP2,RXFP2;FC=Synonymous_E319E,Synonymous_E295E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,45:96:99:1075,0,1442:53:99:0.469 chr13 32676114 rs364995 A G 3619.99 PASS DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=27.63;SB=-2326.12;TI=NM_023037;GI=FRY;FC=Synonymous_T95T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3620,259,0:53:99:1.000 chr13 32758834 rs798971 A G 2371.89 PASS DP=85;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9940;MQ=52;MQ0=0;QD=27.90;SB=-1347.19;TI=NM_023037;GI=FRY;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2405,175,0:52:99:1.000 chr13 32776603 rs2428249 T C 555.73 PASS BaseQRankSum=-0.722;DP=41;Dels=0.00;FS=4.781;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.539;QD=13.55;ReadPosRankSum=-1.143;SB=-320.09;TI=NM_023037;GI=FRY;FC=Synonymous_L1319L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,23:41:99:586,0,447:54:99:0.561 chr13 32785086 rs798981 G A 2515.70 PASS BaseQRankSum=1.197;DP=206;Dels=0.00;FS=1.743;HRun=1;HaplotypeScore=6.5208;MQ=55;MQ0=0;MQRankSum=-0.026;QD=12.21;ReadPosRankSum=-1.349;SB=-1645.66;TI=NM_023037;GI=FRY;FC=Synonymous_E1502E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,109:206:99:2546,0,2264:55:99:0.529 chr13 32912299 rs543304 T C 2620.46 PASS BaseQRankSum=1.687;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=-0.787;QD=34.03;ReadPosRankSum=-1.417;SB=-1114.05;TI=NM_000059;GI=BRCA2;FC=Synonymous_V1269V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,76:77:99:2653,199,0:56:99:0.987 chr13 32913055 rs206075 A G 4671.73 PASS DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=31.78;SB=-2441.75;TI=NM_000059;GI=BRCA2;FC=Synonymous_L1521L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,147:147:99:4672,343,0:56:99:1.000 chr13 32915005 rs206076 G C 2045.57 PASS DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=57;MQ0=0;QD=36.53;SB=-992.97;TI=NM_000059;GI=BRCA2;FC=Synonymous_V2171V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:2079,157,0:57:99:1.000 chr13 32929387 rs169547 T C 2066.44 PASS BaseQRankSum=1.685;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=59;MQ0=0;MQRankSum=1.542;QD=28.31;ReadPosRankSum=-1.115;SB=-1046.19;TI=NM_000059;GI=BRCA2;FC=Missense_V2466A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,72:73:99:2099,153,0:59:99:0.986 chr13 32972884 rs1801426 A G 354.24 PASS BaseQRankSum=-0.982;DP=32;Dels=0.00;FS=1.768;HRun=0;HaplotypeScore=3.6495;MQ=59;MQ0=0;MQRankSum=-0.302;QD=11.07;ReadPosRankSum=-0.340;SB=-153.68;TI=NM_000059;GI=BRCA2;FC=Missense_I3412V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,15:32:99:384,0,529:59:99:0.469 chr13 33590851 rs2772364 T C 2362.31 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9153;MQ=55;MQ0=0;QD=32.36;SB=-625.55;TI=NM_004795;GI=KL;FC=Synonymous_D91D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2395,175,0:55:99:1.000 chr13 33628138 rs9536314 T G 981.18 PASS BaseQRankSum=1.033;DP=61;Dels=0.00;FS=1.022;HRun=0;HaplotypeScore=1.7882;MQ=59;MQ0=0;MQRankSum=-0.931;QD=16.08;ReadPosRankSum=-0.224;SB=-418.21;TI=NM_004795;GI=KL;FC=Missense_F352V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,32:61:99:1011,0,848:59:99:0.525 chr13 33628193 rs9527025 G C 931.31 PASS BaseQRankSum=0.420;DP=67;Dels=0.00;FS=4.883;HRun=1;HaplotypeScore=0.8941;MQ=59;MQ0=0;MQRankSum=0.069;QD=13.90;ReadPosRankSum=-0.959;SB=-452.17;TI=NM_004795;GI=KL;FC=Missense_C370S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,33:67:99:961,0,973:59:99:0.493 chr13 33628239 rs9527026 G A 1099.14 PASS BaseQRankSum=1.827;DP=82;Dels=0.00;FS=11.956;HRun=2;HaplotypeScore=1.9995;MQ=58;MQ0=0;MQRankSum=-0.779;QD=13.40;ReadPosRankSum=1.920;SB=-312.74;TI=NM_004795;GI=KL;FC=Synonymous_K385K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,41:82:99:1129,0,1123:58:99:0.500 chr13 33635463 rs648202 T C 5450.84 PASS DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.7605;MQ=58;MQ0=0;QD=33.04;SB=-1932.11;TI=NM_004795;GI=KL;FC=Synonymous_A749A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,163:164:99:5451,409,0:58:99:1.000 chr13 33635835 rs649964 T C 1481.59 PASS DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=59;MQ0=0;QD=33.67;SB=-243.88;TI=NM_004795;GI=KL;FC=Synonymous_N873N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:99:1515,114,0:59:99:1.000 chr13 36202269 rs11538677 A G 1669.28 PASS BaseQRankSum=1.379;DP=143;Dels=0.00;FS=0.626;HRun=0;HaplotypeScore=3.7449;MQ=55;MQ0=0;MQRankSum=2.805;QD=11.67;ReadPosRankSum=-0.321;SB=-996.71;TI=NM_015678,NR_031646;GI=NBEA,MIR548F5;FC=Missense_I2501V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,70:143:99:1699,0,1662:55:99:0.490 chr13 36229873 rs2274550 C T 1200.72 PASS BaseQRankSum=1.309;DP=84;Dels=0.00;FS=8.721;HRun=0;HaplotypeScore=2.7748;MQ=55;MQ0=0;MQRankSum=1.130;QD=14.29;ReadPosRankSum=-0.287;SB=-625.16;TI=NM_015678,NR_031646;GI=NBEA,MIR548F5;FC=Synonymous_D2762D,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,45:84:99:1231,0,1060:55:99:0.536 chr13 36402426 rs2296645 A G 2264.74 PASS BaseQRankSum=3.006;DP=206;Dels=0.00;FS=0.521;HRun=0;HaplotypeScore=4.5979;MQ=52;MQ0=0;MQRankSum=0.788;QD=10.99;ReadPosRankSum=0.201;SB=-1235.51;TI=NR_031646,NM_001195416,NM_001195415,NM_004734;GI=MIR548F5,DCLK1,DCLK1,DCLK1;FC=Silent,Synonymous_Y109Y,Synonymous_Y109Y,Synonymous_Y416Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,89:206:99:2295,0,2796:52:99:0.432 chr13 36886469 rs2274293 T C 1167.53 PASS BaseQRankSum=1.652;DP=87;Dels=0.00;FS=4.176;HRun=0;HaplotypeScore=5.9952;MQ=57;MQ0=0;MQRankSum=-0.641;QD=13.42;ReadPosRankSum=-0.658;SB=-519.33;TI=NM_015087,NM_001142296,NM_001142295,NM_001142294;GI=SPG20,SPG20,SPG20,SPG20;FC=Synonymous_A543A,Synonymous_A543A,Synonymous_A543A,Synonymous_A543A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,45:87:99:1198,0,1018:57:99:0.517 chr13 37679268 rs9576175 G T 1954.31 PASS BaseQRankSum=0.699;DP=163;Dels=0.00;FS=2.759;HRun=1;HaplotypeScore=9.2274;MQ=56;MQ0=0;MQRankSum=-0.164;QD=11.99;ReadPosRankSum=-0.164;SB=-1190.91;TI=NM_145203;GI=CSNK1A1L;FC=Missense_D42E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,78:163:99:1984,0,2338:56:99:0.479 chr13 38237872 rs2985171 A G 4229.73 PASS DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6917;MQ=54;MQ0=0;QD=30.87;SB=-1380.51;TI=NM_001135958,NM_001135957,NM_016179,NM_001135955,NM_001135956,NM_003306;GI=TRPC4,TRPC4,TRPC4,TRPC4,TRPC4,TRPC4;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:4230,319,0:54:99:1.000 chr13 38320594 . TAA T,TA 1649.86 R8 BaseQRankSum=-0.116;DP=91;FS=3.968;HaplotypeScore=172.0532;MQ=54;MQ0=1;MQRankSum=-1.177;QD=18.13;ReadPosRankSum=0.595;SB=-268.13;TI=NM_001135958,NM_001135957,NM_016179,NM_001135955,NM_001135956,NM_003306;GI=TRPC4,TRPC4,TRPC4,TRPC4,TRPC4,TRPC4;FC=Noncoding,Splicing,Splicing,Splicing,Splicing,Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:17,15,2:90:99:1728,1189,1485,195,0,205:54:99:0.500 chr13 38357471 rs3904512 G A 2203.35 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=27.20;SB=-1512.39;TI=NM_001135958,NM_001135957,NM_016179,NM_001135955,NM_001135956,NM_003306;GI=TRPC4,TRPC4,TRPC4,TRPC4,TRPC4,TRPC4;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2236,160,0:53:99:1.000 chr13 39262057 rs1868464 G A 2765.97 PASS DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8914;MQ=57;MQ0=0;QD=32.54;SB=-1318.63;TI=NM_207361;GI=FREM2;FC=Synonymous_E192E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2799,211,0:57:99:1.000 chr13 39263023 rs12874397 C T 1063.69 PASS BaseQRankSum=1.694;DP=77;Dels=0.00;FS=0.869;HRun=0;HaplotypeScore=8.2925;MQ=57;MQ0=0;MQRankSum=0.052;QD=13.81;ReadPosRankSum=0.312;SB=-583.89;TI=NM_207361;GI=FREM2;FC=Synonymous_A514A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,39:77:99:1094,0,1021:57:99:0.513 chr13 39263714 rs2496423 T C 2575.14 PASS DP=81;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=4.7606;MQ=57;MQ0=0;QD=31.79;SB=-1065.65;TI=NM_207361;GI=FREM2;FC=Missense_S745P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:81:99:2608,199,0:57:99:1.000 chr13 40229842 . A AG 1214.31 PASS DP=37;FS=0.000;HRun=5;HaplotypeScore=208.4972;MQ=62;MQ0=0;QD=32.82;SB=-433.85;TI=NM_020751,NR_026745,NM_001145079;GI=COG6,COG6,COG6;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,34:37:99:1256,109,0:62:99:0.919 chr13 40229891 rs3812882 G A 1788.56 PASS DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.32;SB=-995.07;TI=NM_020751,NR_026745,NM_001145079;GI=COG6,COG6,COG6;FC=Missense_A10T,Silent,Missense_A10T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1822,132,0:56:99:1.000 chr13 40229957 rs3812883 T A 2821.22 PASS DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=53;MQ0=0;QD=27.93;SB=-1824.05;TI=NM_020751,NR_026745,NM_001145079;GI=COG6,COG6,COG6;FC=Missense_C32S,Silent,Missense_C32S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2854,205,0:53:99:1.000 chr13 40293428 rs41286961 T C 1061.81 PASS BaseQRankSum=2.227;DP=100;Dels=0.00;FS=2.609;HRun=0;HaplotypeScore=6.4700;MQ=55;MQ0=0;MQRankSum=-1.351;QD=10.62;ReadPosRankSum=0.172;SB=-724.21;TI=NM_020751,NR_026745,NM_001145079;GI=COG6,COG6,COG6;FC=Missense_M447T,Silent,Missense_M447T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,49:100:99:1092,0,1234:55:99:0.490 chr13 40298638 rs66629036 TA T 651.53 PASS BaseQRankSum=-0.124;DP=28;FS=4.058;HRun=3;HaplotypeScore=155.8487;MQ=41;MQ0=0;MQRankSum=1.114;QD=23.27;ReadPosRankSum=0.867;SB=-258.19;TI=NM_020751,NR_026745,NM_001145079;GI=COG6,COG6,COG6;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:20,8:28:76.17:694,76,0:41:76:0.286 chr13 40325310 rs4245396 C T 3516.29 PASS DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0971;MQ=57;MQ0=0;QD=32.26;SB=-1836.56;TI=NM_020751,NR_026745,NM_001145079;GI=COG6,COG6,COG6;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:109:99:3516,265,0:57:99:1.000 chr13 40325364 . AT A 137.94 LowVariantFreq;R8 BaseQRankSum=-2.055;DP=71;FS=1.319;HRun=13;HaplotypeScore=402.0153;MQ=58;MQ0=0;MQRankSum=0.901;QD=1.94;ReadPosRankSum=0.411;SB=-80.72;TI=NM_020751,NR_026745,NM_001145079;GI=COG6,COG6,COG6;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,12:71:99:177,0,914:58:99:0.194 chr13 40326284 . CA C 1535.07 R8 BaseQRankSum=-0.170;DP=54;FS=0.000;HRun=9;HaplotypeScore=41.6831;MQ=59;MQ0=0;MQRankSum=1.597;QD=28.43;ReadPosRankSum=-0.577;SB=-774.47;TI=NM_020751,NR_026745,NM_001145079;GI=COG6,COG6,COG6;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,50:54:99:1577,122,0:59:99:0.926 chr13 41382711 rs17849654 A T 688.52 PASS BaseQRankSum=1.202;DP=50;Dels=0.00;FS=2.465;HRun=3;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=0.948;QD=13.77;ReadPosRankSum=-0.948;SB=-337.14;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Missense_I254L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,28:50:99:719,0,513:55:99:0.560 chr13 43148565 rs2296533 T C 854.98 PASS BaseQRankSum=1.119;DP=88;Dels=0.00;FS=5.605;HRun=5;HaplotypeScore=4.1952;MQ=57;MQ0=0;MQRankSum=2.082;QD=9.72;ReadPosRankSum=-1.295;SB=-484.00;TI=NM_033012,NM_003701;GI=TNFSF11,TNFSF11;FC=Silent,Synonymous_P42P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,40:88:99:885,0,1164:57:99:0.455 chr13 43181024 rs9562415 T C 224.45 SB BaseQRankSum=1.064;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=1.292;QD=11.22;ReadPosRankSum=-0.380;SB=-0.01;TI=NM_033012,NM_003701;GI=TNFSF11,TNFSF11;FC=Synonymous_F235F,Synonymous_F308F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,9:20:99:254,0,287:56:99:0.450 chr13 46629944 rs1926447 A G 944.45 PASS BaseQRankSum=0.263;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;MQRankSum=1.580;QD=8.83;ReadPosRankSum=-0.484;SB=-645.32;TI=NM_016413,NM_001872;GI=CPB2,CPB2;FC=Missense_I310T,Missense_I347T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,44:107:99:974,0,1599:50:99:0.411 chr13 46629995 rs1926446 C A 595.46 PASS BaseQRankSum=-0.113;DP=65;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=52;MQ0=0;MQRankSum=0.563;QD=9.16;ReadPosRankSum=1.331;SB=-429.21;TI=NM_016413,NM_001872;GI=CPB2,CPB2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,28:65:99:625,0,967:52:99:0.431 chr13 46641481 rs7337140 T C 1281.11 PASS BaseQRankSum=0.540;DP=119;Dels=0.00;FS=0.691;HRun=1;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=2.888;QD=10.77;ReadPosRankSum=0.343;SB=-847.30;TI=NM_016413,NM_001872;GI=CPB2,CPB2;FC=Silent,Synonymous_P221P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,56:119:99:1311,0,1450:50:99:0.471 chr13 46656669 rs2296642 A G 1201.83 PASS BaseQRankSum=1.231;DP=113;Dels=0.00;FS=10.505;HRun=0;HaplotypeScore=7.2565;MQ=53;MQ0=0;MQRankSum=2.291;QD=10.64;ReadPosRankSum=1.897;SB=-591.08;TI=NM_016413,NM_001872;GI=CPB2,CPB2;FC=Synonymous_D97D,Synonymous_D97D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,49:113:99:1232,0,1508:53:99:0.434 chr13 47260054 rs842381 T C 2038.49 PASS DP=68;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.98;SB=-1078.46;TI=NM_015116,NM_001164211,NM_001164213;GI=LRCH1,LRCH1,LRCH1;FC=Missense_S234P,Missense_S234P,Missense_S234P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:2071,150,0:56:99:1.000 chr13 47297352 rs7319836 G A 743.15 PASS BaseQRankSum=0.887;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=2.341;QD=13.04;ReadPosRankSum=1.814;SB=-399.29;TI=NM_015116,NM_001164211,NM_001164213;GI=LRCH1,LRCH1,LRCH1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,27:57:99:773,0,690:53:99:0.474 chr13 47308109 rs2298086 A G 2725.64 PASS DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=30.97;SB=-1026.65;TI=NM_015116,NM_001164211,NM_001164213;GI=LRCH1,LRCH1,LRCH1;FC=Synonymous_A652A,Synonymous_A687A,Synonymous_A652A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2759,199,0:53:99:1.000 chr13 47315984 rs3742274 T C 932.52 PASS DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=32.16;SB=-323.25;TI=NM_015116,NM_001164211,NM_001164213;GI=LRCH1,LRCH1,LRCH1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:72.23:966,72,0:57:72:1.000 chr13 47409034 rs6314 G A 445.11 PASS BaseQRankSum=0.466;DP=31;Dels=0.00;FS=9.949;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-1.642;QD=14.36;ReadPosRankSum=-1.440;SB=-295.53;TI=NM_000621,NM_001165947;GI=HTR2A,HTR2A;FC=Missense_H452Y,Missense_H368Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,19:31:99:475,0,377:56:99:0.613 chr13 47469940 rs6313 G A 2166.89 PASS BaseQRankSum=1.569;DP=143;Dels=0.00;FS=6.991;HRun=0;HaplotypeScore=11.9708;MQ=57;MQ0=0;MQRankSum=2.109;QD=15.15;ReadPosRankSum=2.012;SB=-699.54;TI=NM_000621,NM_001165947;GI=HTR2A,HTR2A;FC=Synonymous_S34S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,79:143:99:2197,0,1642:57:99:0.552 chr13 47470824 rs6312 C T 4031.03 PASS DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=29.64;SB=-1978.35;TI=NM_000621,NM_001165947;GI=HTR2A,HTR2A;FC=Silent,Missense_D49N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,136:136:99:4031,292,0:54:99:1.000 chr13 48547467 rs7320366 A T 2255.38 PASS DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8914;MQ=55;MQ0=0;QD=29.68;SB=-1353.60;TI=NM_003850;GI=SUCLA2;FC=Missense_S199T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2288,166,0:55:99:1.000 chr13 48563008 rs6561424 G A 1462.63 PASS BaseQRankSum=1.501;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=55;MQ0=0;MQRankSum=-1.193;QD=32.50;ReadPosRankSum=1.655;SB=-639.93;TI=NM_003850;GI=SUCLA2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,44:45:79.58:1496,80,0:55:80:0.978 chr13 49051481 rs77317605 T A 263.87 PASS BaseQRankSum=0.876;DP=32;Dels=0.00;FS=3.307;HRun=2;HaplotypeScore=2.6823;MQ=58;MQ0=0;MQRankSum=0.331;QD=8.25;ReadPosRankSum=-1.966;SB=-150.75;TI=NM_000321;GI=RB1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,12:32:99:294,0,556:58:99:0.375 chr13 50050620 rs7998427 A G 1080.10 PASS BaseQRankSum=1.288;DP=105;Dels=0.00;FS=2.613;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-0.391;QD=10.29;ReadPosRankSum=-0.061;SB=-718.74;TI=NM_031915,NM_001160308;GI=SETDB2,SETDB2;FC=Missense_E117G,Missense_E105G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,46:105:99:1110,0,1674:57:99:0.438 chr13 50054346 rs7996852 G T 2328.01 PASS DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7879;MQ=58;MQ0=0;QD=29.10;SB=-1191.02;TI=NM_031915,NM_001160308;GI=SETDB2,SETDB2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2361,172,0:58:99:1.000 chr13 50057097 rs2057413 G A 3350.75 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8924;MQ=53;MQ0=0;QD=29.65;SB=-1685.10;TI=NM_031915,NM_001160308;GI=SETDB2,SETDB2;FC=Unknown_473,Unknown_461;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3351,241,0:53:99:1.000 chr13 50080847 rs2031532 A G 2323.55 PASS DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48;MQ0=0;QD=25.26;SB=-1780.93;TI=NM_001040443,NM_001040444;GI=PHF11,PHF11;FC=Synonymous_L57L,Synonymous_L18L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2357,169,0:48:99:1.000 chr13 52511606 rs2282057 G A 1348.43 PASS BaseQRankSum=0.921;DP=101;Dels=0.00;FS=0.758;HRun=0;HaplotypeScore=7.3626;MQ=58;MQ0=0;MQRankSum=-1.452;QD=13.35;ReadPosRankSum=-0.466;SB=-680.15;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,48:101:99:1378,0,1491:58:99:0.480 chr13 52515354 rs1801249 A G 354.65 PASS BaseQRankSum=0.356;DP=40;Dels=0.00;FS=2.875;HRun=5;HaplotypeScore=3.6546;MQ=54;MQ0=0;MQRankSum=-0.903;QD=8.87;ReadPosRankSum=-0.985;SB=-182.87;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_V933A,Missense_V1140A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,17:40:99:385,0,551:54:99:0.425 chr13 52520507 rs1801246 C T 1240.99 PASS BaseQRankSum=0.176;DP=96;Dels=0.00;FS=3.748;HRun=0;HaplotypeScore=3.6168;MQ=54;MQ0=0;MQRankSum=0.690;QD=12.93;ReadPosRankSum=0.110;SB=-800.48;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Synonymous_T784T,Synonymous_T991T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,51:96:99:1271,0,1140:54:99:0.531 chr13 52523808 rs732774 C T 953.16 PASS BaseQRankSum=0.929;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=55;MQ0=0;MQRankSum=1.931;QD=11.62;ReadPosRankSum=2.739;SB=-428.74;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Silent,Missense_R952K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,39:82:99:983,0,1095:55:99:0.476 chr13 52524488 rs1061472 T C 1694.27 PASS BaseQRankSum=2.536;DP=166;Dels=0.00;FS=3.687;HRun=2;HaplotypeScore=8.3630;MQ=54;MQ0=0;MQRankSum=0.339;QD=10.21;ReadPosRankSum=-0.089;SB=-974.44;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_K670R,Missense_K832R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,74:166:99:1724,0,2104:54:99:0.446 chr13 52603194 rs3742289 G T 3483.31 PASS BaseQRankSum=1.706;DP=293;Dels=0.00;FS=8.079;HRun=0;HaplotypeScore=10.0399;MQ=56;MQ0=0;MQRankSum=1.504;QD=11.89;ReadPosRankSum=-1.719;SB=-2065.05;TI=NM_001004127,NR_036571,NM_021645;GI=ALG11,ALG11,UTP14C;FC=Silent,Silent,Missense_G85V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:152,141:293:99:3483,0,3542:56:99:0.481 chr13 52603241 rs3742290 A G 3308.34 PASS BaseQRankSum=0.687;DP=287;Dels=0.00;FS=10.333;HRun=0;HaplotypeScore=3.6938;MQ=54;MQ0=0;MQRankSum=2.885;QD=11.53;ReadPosRankSum=-0.774;SB=-1566.81;TI=NM_001004127,NR_036571,NM_021645;GI=ALG11,ALG11,UTP14C;FC=Silent,Silent,Missense_T101A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:155,132:287:99:3308,0,3804:54:99:0.460 chr13 52603775 rs3742291 C T 655.94 PASS BaseQRankSum=0.584;DP=58;Dels=0.00;FS=7.450;HRun=1;HaplotypeScore=3.6821;MQ=58;MQ0=0;MQRankSum=-0.117;QD=11.31;ReadPosRankSum=0.023;SB=-391.92;TI=NM_001004127,NR_036571,NM_021645;GI=ALG11,ALG11,UTP14C;FC=Silent,Silent,Synonymous_L279L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,30:58:99:686,0,752:58:99:0.517 chr13 60385060 rs10665848 A ATTAC 13715.28 PASS DP=187;FS=0.000;HRun=0;HaplotypeScore=91.1173;MQ=60;MQ0=0;QD=73.34;SB=-5309.02;TI=NM_001042517,NM_030932;GI=DIAPH3,DIAPH3;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,169:187:99:13715,560,0:60:99:1.000 chr13 67800935 rs9571740 G A 7795.15 PASS DP=259;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5625;MQ=56;MQ0=0;QD=30.10;SB=-4309.01;TI=NM_020403,NM_203487;GI=PCDH9,PCDH9;FC=Synonymous_D546D,Synonymous_D546D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,259:259:99:7795,569,0:56:99:1.000 chr13 67802339 rs8000556 A T 5833.85 PASS BaseQRankSum=-0.594;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2247;MQ=57;MQ0=0;MQRankSum=-0.229;QD=31.03;ReadPosRankSum=-0.699;SB=-3107.23;TI=NM_020403,NM_203487;GI=PCDH9,PCDH9;FC=Synonymous_V78V,Synonymous_V78V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,186:188:99:5834,389,0:57:99:0.989 chr13 70689307 rs1328617 A C 304.69 LowDP BaseQRankSum=0.887;DP=19;Dels=0.00;FS=2.098;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=1.225;QD=16.04;ReadPosRankSum=-0.803;SB=-97.16;TI=NR_002717;GI=ATXN8OS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,12:19:99:335,0,169:52:99:0.632 chr13 75866284 rs9600455 G A 597.52 PASS BaseQRankSum=0.330;DP=58;Dels=0.00;FS=1.062;HRun=0;HaplotypeScore=1.8938;MQ=55;MQ0=0;MQRankSum=0.188;QD=10.30;ReadPosRankSum=1.303;SB=-341.98;TI=NM_014832;GI=TBC1D4;FC=Missense_T1147M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,25:58:99:628,0,798:55:99:0.431 chr13 75876389 rs2297208 G A 976.17 PASS DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=28.71;SB=-484.41;TI=NM_014832;GI=TBC1D4;FC=Synonymous_L967L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:72.24:1009,72,0:59:72:1.000 chr13 75884216 rs1062087 C T 3087.79 PASS BaseQRankSum=1.633;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6617;MQ=53;MQ0=0;MQRankSum=0.214;QD=29.13;ReadPosRankSum=1.501;SB=-1286.50;TI=NM_014832;GI=TBC1D4;FC=Missense_V819I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,104:106:99:3121,194,0:53:99:0.990 chr13 75884290 rs2297203 G A 521.98 PASS BaseQRankSum=0.594;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6710;MQ=59;MQ0=0;MQRankSum=-1.027;QD=15.35;ReadPosRankSum=-0.054;SB=-34.63;TI=NM_014832;GI=TBC1D4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,17:34:99:552,0,498:59:99:0.515 chr13 75915250 rs35018625 T TA 1453.39 PASS BaseQRankSum=-5.481;DP=83;FS=4.298;HRun=3;HaplotypeScore=1082.1989;MQ=54;MQ0=0;MQRankSum=0.835;QD=17.51;ReadPosRankSum=-0.918;SB=-630.86;TI=NM_014832;GI=TBC1D4;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,39:82:99:1492,0,1493:54:99:0.470 chr13 75915261 rs9565152 A C 1155.24 PASS BaseQRankSum=1.888;DP=95;Dels=0.00;FS=5.307;HRun=1;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=1.245;QD=12.16;ReadPosRankSum=2.097;SB=-459.14;TI=NM_014832;GI=TBC1D4;FC=Synonymous_S537S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,43:95:99:1185,0,1439:54:99:0.453 chr13 75936519 rs7983969 C G 6183.37 PASS BaseQRankSum=1.459;DP=218;Dels=0.00;FS=3.200;HRun=0;HaplotypeScore=13.6905;MQ=54;MQ0=0;MQRankSum=1.716;QD=28.36;ReadPosRankSum=-0.690;SB=-3961.82;TI=NM_014832;GI=TBC1D4;FC=Synonymous_G241G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,215:218:99:6183,418,0:54:99:0.995 chr13 76055820 rs7327548 G C 131.75 SB;LowDP BaseQRankSum=-0.470;DP=10;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8667;MQ=58;MQ0=0;MQRankSum=-0.676;QD=13.17;ReadPosRankSum=0.470;SB=-0.01;TI=NM_014832;GI=TBC1D4;FC=Synonymous_P28P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,5:10:99:162,0,172:58:99:0.500 chr13 78477674 rs5348 A G 2493.21 PASS DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.52;SB=-1787.22;TI=NM_003991,NM_001122659,NM_000115;GI=EDNRB,EDNRB,EDNRB;FC=Synonymous_S184S,Synonymous_S184S,Synonymous_S184S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2526,178,0:53:99:1.000 chr13 80911525 rs504122 G A 3201.15 PASS BaseQRankSum=-0.920;DP=289;Dels=0.00;FS=2.016;HRun=0;HaplotypeScore=8.1940;MQ=53;MQ0=0;MQRankSum=1.666;QD=11.08;ReadPosRankSum=0.356;SB=-1815.90;TI=NM_005842;GI=SPRY2;FC=Missense_P106S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:160,129:289:99:3231,0,3945:53:99:0.446 chr13 92000834 . C A 6.77 LowGQX;LowDP BaseQRankSum=1.026;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=-1.026;QD=1.69;ReadPosRankSum=1.026;SB=-30.98;TI=NR_027349,NR_027350;GI=MIR17HG,MIR17HG;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:35.74:36,0,71:50:7:0.500 chr13 95673939 rs9524765 A G 1822.90 PASS BaseQRankSum=1.658;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.3268;MQ=56;MQ0=0;MQRankSum=-0.387;QD=25.32;ReadPosRankSum=0.337;SB=-1199.19;TI=NM_005845;GI=ABCC4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,67:72:96.68:1856,97,0:56:97:0.944 chr13 95726541 rs1189466 A G 4322.75 PASS DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=55;MQ0=0;QD=28.44;SB=-2930.92;TI=NM_005845;GI=ABCC4;FC=Synonymous_F948F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,152:152:99:4323,310,0:55:99:1.000 chr13 95727780 rs1678339 T C 2394.89 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4397;MQ=52;MQ0=0;QD=26.32;SB=-1660.54;TI=NM_005845;GI=ABCC4;FC=Synonymous_L904L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2428,175,0:52:99:1.000 chr13 95858978 rs2274405 T C 1407.15 PASS BaseQRankSum=0.343;DP=109;Dels=0.00;FS=0.724;HRun=0;HaplotypeScore=4.4085;MQ=53;MQ0=0;MQRankSum=3.131;QD=12.91;ReadPosRankSum=0.871;SB=-809.27;TI=NM_005845,NM_001105515;GI=ABCC4,ABCC4;FC=Synonymous_S323S,Synonymous_S323S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,58:109:99:1437,0,1245:53:99:0.532 chr13 95858996 rs2274406 T C 1391.13 PASS BaseQRankSum=-0.009;DP=112;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.1291;MQ=53;MQ0=0;MQRankSum=2.747;QD=12.42;ReadPosRankSum=0.668;SB=-941.76;TI=NM_005845,NM_001105515;GI=ABCC4,ABCC4;FC=Synonymous_R317R,Synonymous_R317R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,62:112:99:1421,0,1169:53:99:0.559 chr13 95861804 rs899494 A G 6702.40 PASS BaseQRankSum=1.608;DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.7657;MQ=54;MQ0=0;MQRankSum=1.638;QD=27.58;ReadPosRankSum=2.318;SB=-4062.71;TI=NM_005845,NM_001105515;GI=ABCC4,ABCC4;FC=Synonymous_I223I,Synonymous_I223I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,240:243:99:6702,443,0:54:99:0.992 chr13 95899354 rs4148437 A G 2609.36 PASS DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7731;MQ=53;MQ0=0;QD=30.70;SB=-1225.19;TI=NM_005845,NM_001105515;GI=ABCC4,ABCC4;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2642,193,0:53:99:1.000 chr13 99356612 rs1339067 A G 1845.46 PASS BaseQRankSum=2.612;DP=176;Dels=0.00;FS=0.559;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=1.770;QD=10.49;ReadPosRankSum=0.990;SB=-1237.78;TI=NM_005073;GI=SLC15A1;FC=Synonymous_A449A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,76:176:99:1875,0,2328:54:99:0.432 chr13 99376181 rs2297322 C T 714.54 PASS BaseQRankSum=0.407;DP=60;Dels=0.00;FS=5.062;HRun=1;HaplotypeScore=1.8924;MQ=51;MQ0=0;MQRankSum=1.193;QD=11.91;ReadPosRankSum=-0.052;SB=-339.74;TI=NM_005073;GI=SLC15A1;FC=Missense_S117N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,28:60:99:745,0,692:51:99:0.467 chr13 99457431 rs2296984 T G 2017.03 PASS BaseQRankSum=0.676;DP=180;Dels=0.00;FS=0.555;HRun=1;HaplotypeScore=4.5761;MQ=55;MQ0=0;MQRankSum=-0.152;QD=11.21;ReadPosRankSum=-0.771;SB=-1188.73;TI=NM_001130048,NM_015296;GI=DOCK9,DOCK9;FC=Missense_H1862P,Missense_H1863P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,85:180:99:2047,0,2567:55:99:0.472 chr13 99537217 rs2274642 G T 4678.64 PASS DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1421;MQ=54;MQ0=0;QD=31.61;SB=-2104.33;TI=NM_001130048,NM_015296,NM_001130050,NM_001130049;GI=DOCK9,DOCK9,DOCK9,DOCK9;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:148:99:4679,346,0:54:99:1.000 chr13 100518580 rs3783185 A G 6174.89 PASS DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=30.42;SB=-3467.72;TI=NM_206808;GI=CLYBL;FC=Missense_I241V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,203:203:99:6175,445,0:53:99:1.000 chr13 103271206 rs4576935 G A 260.64 LowDP BaseQRankSum=1.415;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=1.122;QD=15.33;ReadPosRankSum=1.610;SB=-70.99;TI=NM_003291;GI=TPP2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,10:17:99:291,0,205:58:99:0.588 chr13 103275386 rs2230854 T C 2028.46 PASS BaseQRankSum=2.097;DP=166;Dels=0.00;FS=3.682;HRun=0;HaplotypeScore=7.5752;MQ=55;MQ0=0;MQRankSum=1.612;QD=12.22;ReadPosRankSum=-0.695;SB=-992.12;TI=NM_003291;GI=TPP2;FC=Synonymous_S260S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,81:166:99:2058,0,2266:55:99:0.488 chr13 103504517 rs1047768 T C 1335.50 PASS BaseQRankSum=-0.415;DP=97;Dels=0.00;FS=0.765;HRun=0;HaplotypeScore=1.7333;MQ=57;MQ0=0;MQRankSum=0.530;QD=13.77;ReadPosRankSum=-0.805;SB=-766.46;TI=NM_000123;GI=ERCC5;FC=Synonymous_H46H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,48:97:99:1365,0,1316:57:99:0.495 chr13 103527849 rs9514066 G C 2673.63 PASS DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8773;MQ=55;MQ0=0;QD=28.14;SB=-1711.27;TI=NM_000123;GI=ERCC5;FC=Missense_G1053R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:2707,196,0:55:99:1.000 chr13 103527930 rs9514067 G C 1718.93 PASS DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=33.06;SB=-886.84;TI=NM_000123;GI=ERCC5;FC=Missense_G1080R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:99:1752,129,0:57:99:1.000 chr13 103705044 rs188096 A C 2441.85 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.83;SB=-1521.17;TI=NM_000452;GI=SLC10A2;FC=Missense_S171A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2475,178,0:53:99:1.000 chr13 110435302 rs9583424 T C 270.74 PASS BaseQRankSum=0.977;DP=30;Dels=0.00;FS=3.637;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-0.229;QD=9.02;ReadPosRankSum=2.432;SB=-199.53;TI=NM_003749;GI=IRS2;FC=Synonymous_P1033P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,14:30:99:301,0,432:56:99:0.467 chr13 110435953 rs4773092 A G 1176.56 PASS BaseQRankSum=1.076;DP=70;Dels=0.00;FS=4.107;HRun=0;HaplotypeScore=2.6203;MQ=57;MQ0=0;MQRankSum=0.792;QD=16.81;ReadPosRankSum=0.792;SB=-234.46;TI=NM_003749;GI=IRS2;FC=Synonymous_C816C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,39:70:99:1207,0,884:57:99:0.557 chr13 110436232 rs3742210 G A 984.75 PASS BaseQRankSum=-0.709;DP=85;Dels=0.00;FS=3.010;HRun=0;HaplotypeScore=6.5204;MQ=56;MQ0=0;MQRankSum=-0.691;QD=11.59;ReadPosRankSum=0.466;SB=-382.91;TI=NM_003749;GI=IRS2;FC=Synonymous_S723S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,39:85:99:1015,0,1201:56:99:0.464 chr13 110813709 rs1133219 G A 2058.09 PASS BaseQRankSum=1.725;DP=191;Dels=0.00;FS=1.136;HRun=0;HaplotypeScore=6.6322;MQ=55;MQ0=0;MQRankSum=-1.206;QD=10.78;ReadPosRankSum=-1.500;SB=-1387.54;TI=NM_001845;GI=COL4A1;FC=Synonymous_A1490A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,89:191:99:2088,0,2567:55:99:0.466 chr13 110818598 rs3742207 T G 2143.44 PASS BaseQRankSum=-0.172;DP=140;Dels=0.00;FS=1.362;HRun=0;HaplotypeScore=2.7879;MQ=54;MQ0=0;MQRankSum=1.276;QD=15.31;ReadPosRankSum=1.740;SB=-1391.49;TI=NM_001845;GI=COL4A1;FC=Missense_Q1334H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,87:140:99:2173,0,1076:54:99:0.621 chr13 110819586 rs589985 G A 769.79 PASS BaseQRankSum=1.908;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=52;MQ0=0;MQRankSum=-1.579;QD=8.95;ReadPosRankSum=0.998;SB=-626.11;TI=NM_001845;GI=COL4A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,39:86:99:800,0,1183:52:99:0.453 chr13 110827574 rs874203 T A 694.31 PASS BaseQRankSum=1.971;DP=64;Dels=0.00;FS=7.551;HRun=0;HaplotypeScore=3.9326;MQ=57;MQ0=0;MQRankSum=0.788;QD=10.85;ReadPosRankSum=-1.033;SB=-175.71;TI=NM_001845;GI=COL4A1;FC=Synonymous_R1063R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,27:64:99:724,0,802:57:99:0.422 chr13 110827580 rs874204 C T 995.13 PASS BaseQRankSum=0.796;DP=89;Dels=0.00;FS=5.990;HRun=0;HaplotypeScore=3.8831;MQ=54;MQ0=0;MQRankSum=1.349;QD=11.18;ReadPosRankSum=-2.033;SB=-270.76;TI=NM_001845;GI=COL4A1;FC=Synonymous_G1061G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,40:89:99:1025,0,1096:54:99:0.449 chr13 110833702 rs16975492 C T 1845.65 PASS BaseQRankSum=2.780;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.2060;MQ=53;MQ0=0;MQRankSum=0.895;QD=11.39;ReadPosRankSum=1.050;SB=-1197.65;TI=NM_001845;GI=COL4A1;FC=Synonymous_P710P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,77:162:99:1876,0,2105:53:99:0.475 chr13 110838814 rs61749897 A G 2599.02 PASS BaseQRankSum=-1.015;DP=166;Dels=0.00;FS=2.049;HRun=2;HaplotypeScore=14.9881;MQ=59;MQ0=0;MQRankSum=-0.627;QD=15.66;ReadPosRankSum=0.940;SB=-1248.76;TI=NM_001845;GI=COL4A1;FC=Synonymous_P605P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,95:166:99:2629,0,1876:59:99:0.572 chr13 110839550 rs536174 T G 2671.20 PASS DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4941;MQ=54;MQ0=0;QD=28.42;SB=-1696.14;TI=NM_001845;GI=COL4A1;FC=Missense_T555P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2704,196,0:54:99:1.000 chr13 110859069 rs9588116 G C 1922.10 PASS DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4789;MQ=56;MQ0=0;QD=31.00;SB=-1188.34;TI=NM_001845;GI=COL4A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,62:62:99:1955,144,0:56:99:1.000 chr13 110861785 rs645114 C G 2246.02 PASS DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=28.43;SB=-1373.43;TI=NM_001845;GI=COL4A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2279,169,0:55:99:1.000 chr13 110959356 rs9515185 C G 276.57 PASS BaseQRankSum=0.460;DP=31;Dels=0.00;FS=3.319;HRun=1;HaplotypeScore=1.7262;MQ=50;MQ0=0;MQRankSum=1.061;QD=8.92;ReadPosRankSum=-0.701;SB=-152.52;TI=NM_001845;GI=COL4A1;FC=Missense_V7L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,13:31:99:307,0,458:50:99:0.419 chr13 111077197 rs4238272 G A 3458.77 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8187;MQ=52;MQ0=0;QD=30.08;SB=-1621.29;TI=NM_001846;GI=COL4A2;FC=Synonymous_T99T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3459,250,0:52:99:1.000 chr13 111098226 rs4103 C T 788.41 PASS BaseQRankSum=0.256;DP=80;Dels=0.00;FS=4.248;HRun=0;HaplotypeScore=5.7715;MQ=54;MQ0=0;MQRankSum=2.442;QD=9.86;ReadPosRankSum=0.198;SB=-486.52;TI=NM_001846;GI=COL4A2;FC=Synonymous_P336P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,36:80:99:818,0,1072:54:99:0.450 chr13 111102042 rs76425569 G A 1874.67 PASS BaseQRankSum=1.925;DP=188;Dels=0.00;FS=2.701;HRun=0;HaplotypeScore=4.6544;MQ=55;MQ0=0;MQRankSum=1.751;QD=9.97;ReadPosRankSum=-0.211;SB=-803.77;TI=NM_001846;GI=COL4A2;FC=Synonymous_P365P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,78:188:99:1905,0,2870:55:99:0.415 chr13 111102126 rs74941798 C T 2171.01 PASS BaseQRankSum=-0.932;DP=205;Dels=0.00;FS=1.093;HRun=1;HaplotypeScore=10.7460;MQ=55;MQ0=0;MQRankSum=1.360;QD=10.59;ReadPosRankSum=0.138;SB=-1367.74;TI=NM_001846;GI=COL4A2;FC=Synonymous_I393I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,94:205:99:2201,0,2679:55:99:0.459 chr13 111111173 rs7990214 G A 4854.88 PASS DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5711;MQ=53;MQ0=0;QD=28.39;SB=-2908.72;TI=NM_001846;GI=COL4A2;FC=Synonymous_P496P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,171:171:99:4855,346,0:53:99:1.000 chr13 111111235 rs7990383 G A 3593.42 PASS DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0937;MQ=56;MQ0=0;QD=28.75;SB=-1964.25;TI=NM_001846;GI=COL4A2;FC=Missense_R517K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,124:125:99:3593,262,0:56:99:1.000 chr13 111117745 rs3803236 C T 2183.44 PASS DP=77;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=28.36;SB=-1341.35;TI=NM_001846;GI=COL4A2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2216,160,0:54:99:1.000 chr13 111121620 rs9583500 C T 2545.31 PASS BaseQRankSum=1.529;DP=210;Dels=0.00;FS=5.824;HRun=0;HaplotypeScore=5.6438;MQ=54;MQ0=0;MQRankSum=0.104;QD=12.12;ReadPosRankSum=-0.436;SB=-1787.80;TI=NM_001846;GI=COL4A2;FC=Missense_P718S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,112:210:99:2575,0,2381:54:99:0.533 chr13 111130519 rs2281974 C T 1101.74 PASS BaseQRankSum=0.220;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7747;MQ=58;MQ0=0;MQRankSum=0.135;QD=10.59;ReadPosRankSum=0.484;SB=-467.17;TI=NM_001846;GI=COL4A2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,44:104:99:1132,0,1529:58:99:0.423 chr13 111154058 rs439831 T A 5931.22 PASS DP=205;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4103;MQ=56;MQ0=0;QD=28.93;SB=-3352.58;TI=NM_001846;GI=COL4A2;FC=Synonymous_P1268P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,204:205:99:5931,427,0:56:99:1.000 chr13 111154061 rs409858 T C 5794.19 PASS DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1985;MQ=56;MQ0=0;QD=28.13;SB=-3262.26;TI=NM_001846;GI=COL4A2;FC=Synonymous_G1269G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,204:206:99:5794,421,0:56:99:1.000 chr13 111155773 rs438758 T C 2253.96 PASS DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6381;MQ=51;MQ0=0;QD=29.66;SB=-1146.40;TI=NM_001846;GI=COL4A2;FC=Synonymous_T1361T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2287,172,0:51:99:1.000 chr13 111156499 rs4771683 C T 1941.79 PASS DP=69;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.6398;MQ=54;MQ0=0;QD=28.14;SB=-1107.86;TI=NM_001846;GI=COL4A2;FC=Synonymous_F1430F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:1975,144,0:54:99:1.000 chr13 111158874 rs445348 A G 5966.88 PASS DP=206;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7840;MQ=52;MQ0=0;QD=28.97;SB=-3308.99;TI=NM_001846;GI=COL4A2;FC=Synonymous_P1505P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,206:206:99:5967,439,0:52:99:1.000 chr13 111806245 rs61966721 A G 314.13 PASS BaseQRankSum=2.387;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=2.180;QD=12.08;ReadPosRankSum=1.765;SB=-167.52;TI=NM_145735,NM_001113511,NM_001113512,NM_003899;GI=ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,11:26:99:344,0,383:56:99:0.423 chr13 111870037 rs2296354 T C 1491.82 PASS BaseQRankSum=3.366;DP=132;Dels=0.00;FS=2.400;HRun=0;HaplotypeScore=2.8854;MQ=56;MQ0=0;MQRankSum=-0.231;QD=11.30;ReadPosRankSum=0.464;SB=-586.92;TI=NM_145735,NM_001113511,NM_001113512,NM_003899,NM_001113513;GI=ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7,ARHGEF7;FC=Synonymous_D160D,Synonymous_D181D,Synonymous_D131D,Synonymous_D3D,Synonymous_D3D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,60:132:99:1522,0,1993:56:99:0.455 chr13 111955465 rs1555751 T C 746.80 PASS BaseQRankSum=1.049;DP=56;Dels=0.00;FS=4.702;HRun=0;HaplotypeScore=1.9891;MQ=58;MQ0=0;MQRankSum=-0.213;QD=13.34;ReadPosRankSum=-0.689;SB=-287.14;TI=NM_003899,NM_001113513;GI=ARHGEF7,ARHGEF7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,29:56:99:777,0,767:58:99:0.518 chr13 113801737 rs5960 C T 3101.75 PASS DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=25.63;SB=-2161.18;TI=NM_000504;GI=F10;FC=Synonymous_T264T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3135,220,0:52:99:1.000 chr13 113818817 rs45606038 T C 595.94 PASS BaseQRankSum=0.667;DP=84;Dels=0.00;FS=12.817;HRun=2;HaplotypeScore=54.1822;MQ=52;MQ0=0;MQRankSum=2.429;QD=7.09;ReadPosRankSum=-0.232;SB=-400.13;TI=NM_003891;GI=PROZ;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,31:84:99:626,0,1289:52:99:0.369 chr13 113818817 . T TC 2367.13 PASS BaseQRankSum=-2.094;DP=84;FS=2.788;HRun=2;HaplotypeScore=481.9353;MQ=52;MQ0=0;MQRankSum=-0.401;QD=28.18;ReadPosRankSum=-0.104;SB=-981.17;TI=NM_003891;GI=PROZ;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:35,42:84:99:2409,196,0:52:99:0.545 chr13 113818900 rs564081 A G 3022.90 PASS DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2127;MQ=51;MQ0=0;QD=26.99;SB=-1513.52;TI=NM_003891;GI=PROZ;FC=Synonymous_T149T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:3056,226,0:51:99:1.000 chr13 114322289 rs9796035 A G 1334.27 PASS BaseQRankSum=0.980;DP=117;Dels=0.00;FS=0.709;HRun=3;HaplotypeScore=9.7527;MQ=56;MQ0=0;MQRankSum=0.773;QD=11.40;ReadPosRankSum=0.860;SB=-768.93;TI=NM_002929;GI=GRK1;FC=Synonymous_L196L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,55:117:99:1364,0,1502:56:99:0.470 chr13 114323997 rs9796234 T C 1491.46 PASS BaseQRankSum=1.605;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=0.589;QD=12.33;ReadPosRankSum=-0.718;SB=-814.09;TI=NM_002929;GI=GRK1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,62:121:99:1521,0,1464:52:99:0.512 chr13 114325982 . C T 79.80 LowVariantFreq;SB BaseQRankSum=0.383;DP=69;Dels=0.00;FS=4.810;HRun=0;HaplotypeScore=4.7919;MQ=35;MQ0=0;MQRankSum=-3.448;QD=1.16;ReadPosRankSum=-3.857;SB=-0.01;TI=NM_002929;GI=GRK1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,9:69:99:110,0,1583:35:80:0.130 chr14 20815013 rs1713430 C T 1020.93 PASS BaseQRankSum=1.057;DP=91;Dels=0.03;FS=2.936;HRun=0;HaplotypeScore=12.3641;MQ=53;MQ0=0;MQRankSum=1.222;QD=11.22;ReadPosRankSum=-0.039;SB=-723.12;TI=NM_005484,NM_001042618;GI=PARP2,PARP2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,48:88:99:1051,0,841:53:99:0.558 chr14 20823052 rs3093926 G A 2048.53 PASS BaseQRankSum=0.347;DP=197;Dels=0.00;FS=2.448;HRun=1;HaplotypeScore=2.8888;MQ=51;MQ0=0;MQRankSum=1.640;QD=10.40;ReadPosRankSum=2.373;SB=-1464.60;TI=NM_005484,NM_001042618;GI=PARP2,PARP2;FC=Missense_R296Q,Missense_R283Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,94:197:99:2079,0,2411:51:99:0.477 chr14 20824181 rs3093930 T C 924.32 PASS BaseQRankSum=0.123;DP=61;Dels=0.00;FS=1.016;HRun=0;HaplotypeScore=3.6806;MQ=57;MQ0=0;MQRankSum=1.314;QD=15.15;ReadPosRankSum=-1.648;SB=-403.32;TI=NM_005484,NM_001042618;GI=PARP2,PARP2;FC=Synonymous_Y377Y,Synonymous_Y364Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,34:61:99:954,0,700:57:99:0.557 chr14 20824859 rs878156 T C 1435.88 PASS BaseQRankSum=0.697;DP=141;Dels=0.00;FS=1.326;HRun=0;HaplotypeScore=5.3371;MQ=52;MQ0=0;MQRankSum=1.541;QD=10.18;ReadPosRankSum=-1.706;SB=-974.91;TI=NM_005484,NM_001042618;GI=PARP2,PARP2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,65:141:99:1466,0,1792:52:99:0.461 chr14 20837701 rs938886 G C 765.68 PASS BaseQRankSum=1.733;DP=72;Dels=0.00;FS=0.924;HRun=0;HaplotypeScore=3.7032;MQ=54;MQ0=0;MQRankSum=1.617;QD=10.63;ReadPosRankSum=-0.558;SB=-382.19;TI=NM_007110;GI=TEP1;FC=Missense_I2486M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,27:72:99:796,0,1212:54:99:0.375 chr14 20841162 rs1760909 C T 1364.04 PASS BaseQRankSum=1.061;DP=113;Dels=0.00;FS=10.965;HRun=0;HaplotypeScore=4.7376;MQ=54;MQ0=0;MQRankSum=1.377;QD=12.07;ReadPosRankSum=-0.198;SB=-518.82;TI=NM_007110;GI=TEP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,54:113:99:1394,0,1377:54:99:0.478 chr14 20841313 rs1713448 G A 1669.20 PASS BaseQRankSum=1.278;DP=112;Dels=0.00;FS=8.850;HRun=1;HaplotypeScore=9.1900;MQ=56;MQ0=0;MQRankSum=0.451;QD=14.90;ReadPosRankSum=-0.917;SB=-755.95;TI=NM_007110;GI=TEP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,58:112:99:1699,0,1472:56:99:0.518 chr14 20841707 rs1713449 C T 2059.79 PASS BaseQRankSum=1.308;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.8038;MQ=53;MQ0=0;MQRankSum=0.090;QD=12.41;ReadPosRankSum=-0.623;SB=-1148.05;TI=NM_007110;GI=TEP1;FC=Missense_V2214I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,80:166:99:2090,0,2075:53:99:0.488 chr14 20847202 rs938887 A G 1704.21 PASS BaseQRankSum=1.110;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4324;MQ=51;MQ0=0;MQRankSum=0.418;QD=11.67;ReadPosRankSum=1.285;SB=-1111.29;TI=NM_007110;GI=TEP1;FC=Synonymous_D1730D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,76:146:99:1734,0,1668:51:99:0.524 chr14 20852029 rs1760904 A G 1414.45 PASS BaseQRankSum=3.109;DP=150;Dels=0.00;FS=2.963;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=0.929;QD=9.43;ReadPosRankSum=0.162;SB=-859.89;TI=NM_007110;GI=TEP1;FC=Missense_S1195P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,62:150:99:1444,0,2140:54:99:0.413 chr14 20852817 rs1760903 G A 1692.20 PASS BaseQRankSum=1.598;DP=168;Dels=0.00;FS=0.577;HRun=0;HaplotypeScore=10.8975;MQ=51;MQ0=0;MQRankSum=0.505;QD=10.07;ReadPosRankSum=0.132;SB=-1088.99;TI=NM_007110;GI=TEP1;FC=Missense_R1055C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,76:168:99:1722,0,2160:51:99:0.452 chr14 20854734 rs945011 A G 1465.09 PASS DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6717;MQ=54;MQ0=0;QD=27.13;SB=-827.07;TI=NM_007110;GI=TEP1;FC=Synonymous_H911H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1498,108,0:54:99:1.000 chr14 20863677 rs2228036 C A 7509.04 PASS BaseQRankSum=0.475;DP=270;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2586;MQ=54;MQ0=0;MQRankSum=0.847;QD=27.81;ReadPosRankSum=0.757;SB=-4193.77;TI=NM_007110;GI=TEP1;FC=Synonymous_R620R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,269:270:99:7509,505,0:54:99:0.996 chr14 20876275 . C A 5.52 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.913;DP=18;Dels=0.00;FS=3.096;HRun=0;HaplotypeScore=0.9958;MQ=57;MQ0=0;MQRankSum=0.913;QD=0.31;ReadPosRankSum=1.054;SB=-0.01;TI=NM_007110;GI=TEP1;FC=Missense_E108D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,2:18:34.08:34,0,474:57:6:0.111 chr14 20925154 rs1130409 T G 508.04 PASS BaseQRankSum=-0.240;DP=48;Dels=0.00;FS=16.080;HRun=1;HaplotypeScore=0.8667;MQ=60;MQ0=0;MQRankSum=-1.035;QD=10.58;ReadPosRankSum=0.157;SB=-302.86;TI=NM_080648,NM_001641,NM_080649;GI=APEX1,APEX1,APEX1;FC=Missense_D148E,Missense_D148E,Missense_D148E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,20:48:99:538,0,876:60:99:0.417 chr14 20940515 rs1049562 C T 1753.78 PASS BaseQRankSum=1.348;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=2.959;QD=12.18;ReadPosRankSum=2.047;SB=-1194.63;TI=NM_000270;GI=PNP;FC=Synonymous_H20H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,75:144:99:1784,0,1573:53:99:0.521 chr14 20940606 rs1049564 G A 539.57 PASS BaseQRankSum=2.706;DP=50;Dels=0.00;FS=1.102;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=0.058;QD=10.79;ReadPosRankSum=-0.175;SB=-366.64;TI=NM_000270;GI=PNP;FC=Missense_G51S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,23:50:99:570,0,687:57:99:0.460 chr14 20940626 rs1130650 C T 387.86 PASS BaseQRankSum=0.493;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=58;MQ0=0;MQRankSum=1.366;QD=9.70;ReadPosRankSum=-1.282;SB=-194.33;TI=NM_000270;GI=PNP;FC=Synonymous_P57P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,18:40:99:418,0,556:58:99:0.462 chr14 20942744 rs1713420 A G 986.31 PASS BaseQRankSum=2.366;DP=77;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-0.042;QD=12.81;ReadPosRankSum=0.188;SB=-590.04;TI=NM_000270;GI=PNP;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,41:77:99:1016,0,966:58:99:0.539 chr14 21162053 rs11701 T G 4559.68 PASS BaseQRankSum=0.307;DP=141;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.2281;MQ=57;MQ0=0;MQRankSum=-0.602;QD=32.34;ReadPosRankSum=0.528;SB=-1005.61;TI=NM_194431;GI=RNASE4;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,140:141:99:4560,305,0:57:99:0.993 chr14 21360216 rs2073342 C G 8056.96 PASS DP=274;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4920;MQ=55;MQ0=0;QD=29.40;SB=-4212.48;TI=NM_002935;GI=RNASE3;FC=Missense_T124R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,273:274:99:8057,593,0:55:99:1.000 chr14 21770681 rs17792599 A G 806.90 PASS BaseQRankSum=1.917;DP=100;Dels=0.00;FS=0.793;HRun=0;HaplotypeScore=9.9973;MQ=53;MQ0=0;MQRankSum=0.524;QD=8.07;ReadPosRankSum=-0.996;SB=-529.52;TI=NM_020366;GI=RPGRIP1;FC=Synonymous_P175P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,40:100:99:837,0,1522:53:99:0.400 chr14 21770730 rs6571751 A G 1411.52 PASS BaseQRankSum=-1.486;DP=102;Dels=0.00;FS=1.640;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=1.309;QD=13.84;ReadPosRankSum=1.085;SB=-972.44;TI=NM_020366;GI=RPGRIP1;FC=Missense_K192E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,60:102:99:1442,0,985:54:99:0.588 chr14 21790040 rs10151259 G T 478.38 PASS BaseQRankSum=-0.575;DP=70;Dels=0.00;FS=2.218;HRun=0;HaplotypeScore=1.8914;MQ=55;MQ0=0;MQRankSum=-0.266;QD=6.83;ReadPosRankSum=-0.563;SB=-293.49;TI=NM_020366;GI=RPGRIP1;FC=Missense_A547S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,24:70:99:508,0,1130:55:99:0.343 chr14 21792811 rs9322965 G A 1737.00 PASS BaseQRankSum=0.102;DP=112;Dels=0.00;FS=8.201;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=1.853;QD=15.51;ReadPosRankSum=1.149;SB=-122.18;TI=NM_020366;GI=RPGRIP1;FC=Synonymous_P599P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,56:112:99:1767,0,1641:58:99:0.500 chr14 21793236 rs7157052 G A 416.91 PASS BaseQRankSum=-0.582;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=57;MQ0=0;MQRankSum=-1.137;QD=16.68;ReadPosRankSum=-0.693;SB=-106.25;TI=NM_020366;GI=RPGRIP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,15:25:99:447,0,318:57:99:0.600 chr14 21796784 rs3748361 G C 1497.34 PASS DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=31.19;SB=-688.43;TI=NM_020366;GI=RPGRIP1;FC=Missense_E1033Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:99:1530,111,0:58:99:1.000 chr14 21829129 rs3762158 C G 3580.93 PASS DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=29.35;SB=-1486.94;TI=NM_007192;GI=SUPT16H;FC=Synonymous_G644G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3581,262,0:54:99:1.000 chr14 21831052 rs10138699 T C 6569.08 PASS BaseQRankSum=-0.909;DP=240;Dels=0.00;FS=3.066;HRun=0;HaplotypeScore=7.3372;MQ=53;MQ0=0;MQRankSum=-0.621;QD=27.37;ReadPosRankSum=-0.505;SB=-4499.04;TI=NM_007192;GI=SUPT16H;FC=Synonymous_P522P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,239:240:99:6569,441,0:53:99:0.996 chr14 21831112 rs10146717 G A 4682.91 PASS DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0167;MQ=57;MQ0=0;QD=32.07;SB=-2750.42;TI=NM_007192;GI=SUPT16H;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,145:146:99:4683,346,0:57:99:1.000 chr14 21854004 . T G 37.98 LowVariantFreq;SB BaseQRankSum=-2.999;DP=77;Dels=0.00;FS=29.766;HRun=2;HaplotypeScore=88.2877;MQ=44;MQ0=0;MQRankSum=-4.323;QD=0.49;ReadPosRankSum=2.016;SB=-0.01;TI=NM_001170629,NM_020920;GI=CHD8,CHD8;FC=Missense_H2505P,Missense_H2226P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,12:77:67.97:68,0,1652:44:38:0.158 chr14 21854013 . T G 18.75 SB BaseQRankSum=-3.975;DP=85;Dels=0.00;FS=27.901;HRun=5;HaplotypeScore=77.8767;MQ=44;MQ0=0;MQRankSum=-3.084;QD=0.22;ReadPosRankSum=1.158;SB=-0.01;TI=NM_001170629,NM_020920;GI=CHD8,CHD8;FC=Missense_H2502P,Missense_H2223P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,17:85:48.69:49,0,1437:44:19:0.202 chr14 21871653 rs8022395 C T 3302.09 PASS DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;QD=30.29;SB=-1442.92;TI=NM_001170629,NM_020920;GI=CHD8,CHD8;FC=Synonymous_V1159V,Synonymous_V880V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:109:99:3302,241,0:56:99:1.000 chr14 21899631 rs10467770 C T 2120.18 PASS BaseQRankSum=3.096;DP=144;Dels=0.00;FS=1.329;HRun=0;HaplotypeScore=11.1405;MQ=55;MQ0=0;MQRankSum=1.592;QD=14.72;ReadPosRankSum=-0.108;SB=-1217.75;TI=NM_001170629,NM_020920;GI=CHD8,CHD8;FC=Missense_V58M,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,80:144:99:2150,0,1634:55:99:0.559 chr14 23242828 rs1061040 T C 5993.33 PASS DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=57;MQ0=0;QD=32.22;SB=-3324.46;TI=NM_001126105,NM_003982,NM_001126106;GI=SLC7A7,SLC7A7,SLC7A7;FC=Synonymous_K509K,Synonymous_K509K,Synonymous_K509K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,186:186:99:5993,439,0:57:99:1.000 chr14 23248112 rs1805061 A G 1245.84 PASS BaseQRankSum=1.258;DP=117;Dels=0.00;FS=0.694;HRun=0;HaplotypeScore=2.7714;MQ=53;MQ0=0;MQRankSum=1.034;QD=10.65;ReadPosRankSum=0.947;SB=-859.16;TI=NM_001126105,NM_003982,NM_001126106;GI=SLC7A7,SLC7A7,SLC7A7;FC=Synonymous_G220G,Synonymous_G220G,Synonymous_G220G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,56:117:99:1276,0,1471:53:99:0.479 chr14 23282110 rs8018462 A G 663.39 SB BaseQRankSum=1.570;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59;MQ0=0;MQRankSum=-0.716;QD=17.93;ReadPosRankSum=0.076;SB=-0.01;TI=NM_001126105,NM_003982,NM_001126106;GI=SLC7A7,SLC7A7,SLC7A7;FC=Synonymous_I166I,Synonymous_I166I,Synonymous_I166I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,20:37:99:693,0,500:59:99:0.541 chr14 23282449 rs1805059 C T 918.23 PASS BaseQRankSum=2.278;DP=67;Dels=0.00;FS=0.949;HRun=0;HaplotypeScore=3.6381;MQ=59;MQ0=0;MQRankSum=0.533;QD=13.70;ReadPosRankSum=-1.036;SB=-434.00;TI=NM_001126105,NM_003982,NM_001126106;GI=SLC7A7,SLC7A7,SLC7A7;FC=Synonymous_S53S,Synonymous_S53S,Synonymous_S53S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,32:67:99:948,0,1035:59:99:0.478 chr14 23284572 rs2281677 A G 1420.09 PASS BaseQRankSum=1.694;DP=141;Dels=0.00;FS=13.374;HRun=1;HaplotypeScore=17.1847;MQ=57;MQ0=0;MQRankSum=-0.063;QD=10.07;ReadPosRankSum=-1.286;SB=-566.27;TI=NM_001126105,NM_003982,NM_001126106;GI=SLC7A7,SLC7A7,SLC7A7;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,61:141:99:1450,0,2373:57:99:0.436 chr14 23284904 rs28364570 A G 1757.97 PASS BaseQRankSum=0.889;DP=135;Dels=0.00;FS=2.913;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=3.266;QD=13.02;ReadPosRankSum=0.033;SB=-314.35;TI=NM_001126105,NM_003982,NM_001126106;GI=SLC7A7,SLC7A7,SLC7A7;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,63:135:99:1788,0,2147:57:99:0.467 chr14 23306048 rs1042703 C T 3610.45 PASS BaseQRankSum=2.315;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6234;MQ=53;MQ0=0;MQRankSum=0.183;QD=28.21;ReadPosRankSum=-1.201;SB=-1930.56;TI=NM_004995;GI=MMP14;FC=Missense_P8S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,126:128:99:3610,268,0:53:99:0.984 chr14 23312554 rs2236302 C G 3752.94 PASS BaseQRankSum=-0.366;DP=327;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.1341;MQ=54;MQ0=0;MQRankSum=2.375;QD=11.48;ReadPosRankSum=-1.634;SB=-2624.22;TI=NM_004995;GI=MMP14;FC=Synonymous_P259P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:166,161:327:99:3753,0,3783:54:99:0.492 chr14 23315134 rs17881739 C T 139.92 PASS BaseQRankSum=0.834;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-1.275;QD=4.66;ReadPosRankSum=-1.520;SB=-21.95;TI=NM_004995;GI=MMP14;FC=Synonymous_P545P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,7:30:99:170,0,690:57:99:0.233 chr14 23777374 rs910332 A G 3317.79 PASS DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=28.85;SB=-2207.65;TI=NM_004050,NM_001199864,NM_001199839;GI=BCL2L2,BCL2L2-PABPN1,BCL2L2;FC=Missense_Q133R,Missense_Q133R,Missense_Q133R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3318,241,0:54:99:1.000 chr14 23852531 . T G 20.53 LowVariantFreq;SB BaseQRankSum=-4.059;DP=121;Dels=0.00;FS=33.102;HRun=5;HaplotypeScore=102.3935;MQ=44;MQ0=0;MQRankSum=-4.705;QD=0.17;ReadPosRankSum=1.991;SB=-0.01;TI=NM_002471;GI=MYH6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,14:121:50.49:50,0,2780:44:21:0.117 chr14 23852537 . T G 139.10 LowVariantFreq;SB BaseQRankSum=-2.688;DP=78;Dels=0.01;FS=51.701;HRun=5;HaplotypeScore=79.3686;MQ=41;MQ0=0;MQRankSum=-4.150;QD=1.78;ReadPosRankSum=-0.796;SB=-0.01;TI=NM_002471;GI=MYH6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,15:77:99:169,0,1493:41:99:0.197 chr14 23861811 rs365990 A G 1395.56 PASS BaseQRankSum=-0.408;DP=106;Dels=0.00;FS=5.182;HRun=0;HaplotypeScore=15.5829;MQ=49;MQ0=0;MQRankSum=-0.242;QD=13.17;ReadPosRankSum=1.091;SB=-571.43;TI=NM_002471;GI=MYH6;FC=Missense_V1101A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,57:106:99:1426,0,1111:49:99:0.553 chr14 23861872 . A G 7.21 LowGQX;LowVariantFreq;SB BaseQRankSum=-4.156;DP=57;Dels=0.00;FS=24.359;HRun=3;HaplotypeScore=29.7657;MQ=49;MQ0=0;MQRankSum=-0.199;QD=0.13;ReadPosRankSum=-1.346;SB=-0.01;TI=NM_002471;GI=MYH6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,8:57:36.28:36,0,1436:49:7:0.143 chr14 23872666 rs434273 T C 302.54 PASS BaseQRankSum=-2.247;DP=57;Dels=0.00;FS=2.681;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=0.400;QD=5.31;ReadPosRankSum=1.785;SB=-125.59;TI=NM_002471;GI=MYH6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,16:57:99:333,0,1058:55:99:0.281 chr14 23874541 rs17277970 C T 380.89 PASS BaseQRankSum=0.615;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=53;MQ0=0;MQRankSum=-1.537;QD=9.07;ReadPosRankSum=-0.231;SB=-224.30;TI=NM_002471;GI=MYH6;FC=Synonymous_L131L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,17:42:99:411,0,698:53:99:0.405 chr14 23874851 rs77679218 C T 481.93 PASS BaseQRankSum=-0.930;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2885;MQ=50;MQ0=0;MQRankSum=0.290;QD=9.84;ReadPosRankSum=0.230;SB=-278.29;TI=NM_002471;GI=MYH6;FC=Synonymous_A110A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,24:49:99:512,0,512:50:99:0.490 chr14 23876267 rs28711516 C T 1398.30 PASS BaseQRankSum=0.357;DP=110;Dels=0.00;FS=2.483;HRun=0;HaplotypeScore=6.2038;MQ=53;MQ0=0;MQRankSum=0.879;QD=12.71;ReadPosRankSum=-0.207;SB=-970.56;TI=NM_002471;GI=MYH6;FC=Missense_G56R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,60:110:99:1428,0,1103:53:99:0.545 chr14 23884889 rs3729830 C T 496.18 PASS BaseQRankSum=0.070;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7120;MQ=53;MQ0=0;MQRankSum=1.527;QD=11.28;ReadPosRankSum=-2.115;SB=-273.51;TI=NM_000257;GI=MYH7;FC=Synonymous_A1702A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,21:44:99:526,0,592:53:99:0.477 chr14 23891481 rs45540831 C T 682.74 PASS BaseQRankSum=0.063;DP=53;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8833;MQ=56;MQ0=0;MQRankSum=2.753;QD=12.88;ReadPosRankSum=-2.265;SB=-503.61;TI=NM_000257;GI=MYH7;FC=Synonymous_A1051A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,31:53:99:713,0,528:56:99:0.585 chr14 23892888 rs7157716 A G 1192.55 PASS BaseQRankSum=0.483;DP=123;Dels=0.00;FS=1.460;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=0.998;QD=9.70;ReadPosRankSum=-1.637;SB=-803.71;TI=NM_000257;GI=MYH7;FC=Synonymous_I989I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,53:123:99:1223,0,1768:54:99:0.431 chr14 23898994 rs2231126 G A 408.13 PASS BaseQRankSum=2.231;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8009;MQ=49;MQ0=0;MQRankSum=-0.079;QD=10.74;ReadPosRankSum=1.503;SB=-280.72;TI=NM_000257;GI=MYH7;FC=Synonymous_D376D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,18:38:99:438,0,438:49:99:0.500 chr14 23900794 rs2069542 G A 2233.38 PASS BaseQRankSum=1.087;DP=167;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.6272;MQ=54;MQ0=0;MQRankSum=0.421;QD=13.37;ReadPosRankSum=0.712;SB=-1287.21;TI=NM_000257;GI=MYH7;FC=Synonymous_F244F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,86:167:99:2263,0,2174:54:99:0.515 chr14 23902753 rs2069540 G A 3819.84 PASS BaseQRankSum=1.619;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=57;MQ0=0;MQRankSum=-1.648;QD=31.06;ReadPosRankSum=1.000;SB=-1272.00;TI=NM_000257;GI=MYH7;FC=Synonymous_T63T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,122:123:99:3820,253,0:57:99:0.992 chr14 24550718 . C T 836.88 PASS BaseQRankSum=0.095;DP=86;Dels=0.00;FS=0.851;HRun=0;HaplotypeScore=8.7276;MQ=55;MQ0=0;MQRankSum=-1.167;QD=9.73;ReadPosRankSum=-1.461;SB=-458.31;TI=NM_006177;GI=NRL;FC=Synonymous_R147R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,41:86:99:867,0,1125:55:99:0.477 chr14 24567498 rs3021119 A C 1570.99 PASS DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=56;MQ0=0;QD=32.06;SB=-719.15;TI=NM_001018073,NM_004563;GI=PCK2,PCK2;FC=Missense_Q121P,Missense_Q121P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1604,117,0:56:99:1.000 chr14 24572932 . G A 201.77 LowDP BaseQRankSum=-1.093;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2823;MQ=58;MQ0=0;MQRankSum=0.101;QD=14.41;ReadPosRankSum=0.811;SB=-40.65;TI=NM_004563;GI=PCK2;FC=Missense_R561Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,7:14:99:232,0,201:58:99:0.538 chr14 24718515 rs2229463 G A 829.08 PASS BaseQRankSum=0.277;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7840;MQ=57;MQ0=0;MQRankSum=0.766;QD=12.56;ReadPosRankSum=-1.887;SB=-191.29;TI=NM_000359;GI=TGM1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,30:66:99:859,0,1071:57:99:0.455 chr14 24724663 rs35312232 C T 2176.20 PASS BaseQRankSum=-0.817;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4599;MQ=53;MQ0=0;MQRankSum=0.589;QD=15.22;ReadPosRankSum=-0.037;SB=-1443.79;TI=NM_000359;GI=TGM1;FC=Missense_V518M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,94:143:99:2206,0,1073:53:99:0.662 chr14 24839083 rs2229309 G C 2552.76 PASS BaseQRankSum=0.709;DP=88;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.0573;MQ=55;MQ0=0;MQRankSum=0.827;QD=29.01;ReadPosRankSum=-1.338;SB=-1360.27;TI=NM_001198967,NM_001136022,NM_004554,NM_001198965,NM_001198966;GI=NFATC4,NFATC4,NFATC4,NFATC4,NFATC4;FC=Missense_G223A,Missense_G223A,Missense_G160A,Missense_G160A,Missense_G90A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,87:88:99:2586,163,0:55:99:0.989 chr14 24843620 rs2295298 T C 3693.00 PASS BaseQRankSum=-0.045;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=0.276;QD=26.76;ReadPosRankSum=1.790;SB=-2515.24;TI=NM_001198967,NM_001136022,NM_004554,NM_001198965,NM_001198966;GI=NFATC4,NFATC4,NFATC4,NFATC4,NFATC4;FC=Synonymous_T670T,Synonymous_T670T,Synonymous_T607T,Synonymous_T607T,Synonymous_T537T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,136:138:99:3693,229,0:52:99:0.986 chr14 24845841 rs7149586 T C 8938.45 PASS BaseQRankSum=0.795;DP=314;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=28.2612;MQ=56;MQ0=0;MQRankSum=1.935;QD=28.47;ReadPosRankSum=-1.816;SB=-5849.33;TI=NM_001198967,NM_001136022,NM_004554,NM_001198965,NM_001198966;GI=NFATC4,NFATC4,NFATC4,NFATC4,NFATC4;FC=Silent,Missense_S863P,Missense_S800P,Silent,Missense_S730P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,308:313:99:8938,590,0:56:99:0.994 chr14 24975435 rs5249 G T 4016.05 PASS DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=31.87;SB=-2143.77;TI=NM_001836;GI=CMA1;FC=Synonymous_S133S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:4016,295,0:55:99:1.000 chr14 25100282 rs2236338 A G 820.85 PASS BaseQRankSum=0.757;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.624;QD=9.54;ReadPosRankSum=1.055;SB=-543.05;TI=NM_004131;GI=GZMB;FC=Missense_Y247H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,36:86:99:851,0,1142:55:99:0.419 chr14 25101548 rs1126639;rs41469548 G A 186.44 PASS BaseQRankSum=1.236;DP=63;Dels=0.00;FS=5.472;HRun=0;HaplotypeScore=0.0000;MQ=43;MQ0=17;MQRankSum=-4.893;QD=2.96;ReadPosRankSum=0.798;SB=-28.33;TI=NM_004131;GI=GZMB;FC=Synonymous_N107N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,21:63:99:216,0,974:43:99:0.333 chr14 25101589 rs11539752 G C 615.87 PASS BaseQRankSum=1.107;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7865;MQ=44;MQ0=22;MQRankSum=-3.198;QD=5.55;ReadPosRankSum=-1.289;SB=-337.22;TI=NM_004131;GI=GZMB;FC=Missense_P94A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,44:111:99:646,0,1344:44:99:0.396 chr14 25101629 rs10909625 T C 625.87 PASS BaseQRankSum=-1.498;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=46;MQ0=15;MQRankSum=-2.832;QD=6.20;ReadPosRankSum=2.156;SB=-364.66;TI=NM_004131;GI=GZMB;FC=Synonymous_K80K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,44:101:99:656,0,1272:46:99:0.436 chr14 25102160 rs8192917 C T 1637.21 PASS BaseQRankSum=2.341;DP=132;Dels=0.00;FS=5.278;HRun=1;HaplotypeScore=1.7608;MQ=52;MQ0=0;MQRankSum=4.065;QD=12.40;ReadPosRankSum=0.390;SB=-944.85;TI=NM_004131;GI=GZMB;FC=Missense_R55Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,70:132:99:1667,0,1379:52:99:0.530 chr14 31355096 rs1045644 C G 2757.31 PASS BaseQRankSum=2.726;DP=172;Dels=0.00;FS=0.653;HRun=0;HaplotypeScore=2.8886;MQ=55;MQ0=0;MQRankSum=2.253;QD=16.03;ReadPosRankSum=0.614;SB=-913.70;TI=NM_001135058,NM_004086;GI=COCH,COCH;FC=Missense_T352S,Missense_T352S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,98:172:99:2787,0,2057:55:99:0.570 chr14 35180389 rs712301 T A 4919.63 PASS BaseQRankSum=0.372;DP=143;Dels=0.01;FS=0.000;HRun=8;HaplotypeScore=9.2247;MQ=59;MQ0=0;MQRankSum=-0.459;QD=34.40;ReadPosRankSum=-1.342;SB=-1835.72;TI=NM_021914,NR_028132,NR_028131,NR_028130,NM_138638;GI=CFL2,CFL2,CFL2,CFL2,CFL2;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,140:142:99:4920,333,0:59:99:0.986 chr14 35180677 rs5807790 AT A 11544.05 PASS BaseQRankSum=-1.599;DP=279;FS=0.000;HRun=2;HaplotypeScore=122.0799;MQ=56;MQ0=0;MQRankSum=0.509;QD=41.38;ReadPosRankSum=0.935;SB=-4265.02;TI=NM_021914,NR_028132,NR_028131,NR_028130,NM_138638;GI=CFL2,CFL2,CFL2,CFL2,CFL2;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,275:279:99:11544,749,0:56:99:0.986 chr14 35761675 rs1048990 C G 1037.67 PASS BaseQRankSum=2.416;DP=96;Dels=0.00;FS=2.700;HRun=0;HaplotypeScore=0.9998;MQ=56;MQ0=0;MQRankSum=-1.446;QD=10.81;ReadPosRankSum=-1.579;SB=-698.58;TI=NM_002791;GI=PSMA6;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,45:96:99:1068,0,1282:56:99:0.469 chr14 35871217 rs8904 G A 1021.97 PASS BaseQRankSum=1.803;DP=101;Dels=0.00;FS=0.741;HRun=0;HaplotypeScore=5.7589;MQ=51;MQ0=0;MQRankSum=1.237;QD=10.12;ReadPosRankSum=-0.134;SB=-743.02;TI=NM_020529;GI=NFKBIA;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,50:101:99:1052,0,1084:51:99:0.500 chr14 35873770 rs1957106 G A 698.62 PASS BaseQRankSum=1.394;DP=83;Dels=0.00;FS=4.373;HRun=0;HaplotypeScore=5.2823;MQ=49;MQ0=0;MQRankSum=0.949;QD=8.42;ReadPosRankSum=0.014;SB=-428.19;TI=NM_020529;GI=NFKBIA;FC=Synonymous_D27D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,34:83:99:729,0,1107:49:99:0.410 chr14 36121087 . CA C 2360.34 R8 DP=76;FS=0.000;HRun=9;HaplotypeScore=29.8031;MQ=52;MQ0=0;QD=31.06;SB=-1040.90;TI=NM_194301,NM_014990;GI=RALGAPA1,RALGAPA1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:76:99:2402,228,0:52:99:1.000 chr14 36153177 rs2274068 T C 2049.10 PASS BaseQRankSum=1.169;DP=160;Dels=0.00;FS=6.867;HRun=0;HaplotypeScore=5.5591;MQ=55;MQ0=0;MQRankSum=1.125;QD=12.81;ReadPosRankSum=1.316;SB=-1176.83;TI=NM_194301,NM_014990;GI=RALGAPA1,RALGAPA1;FC=Missense_T931A,Missense_T931A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,82:160:99:2079,0,1822:55:99:0.513 chr14 36218039 . CAA C 147.88 LowVariantFreq;R8 BaseQRankSum=-0.812;DP=52;FS=1.466;HRun=16;HaplotypeScore=259.1260;MQ=52;MQ0=0;MQRankSum=1.550;QD=2.84;ReadPosRankSum=-0.724;SB=-54.96;TI=NM_194301,NM_014990;GI=RALGAPA1,RALGAPA1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,5:50:99:187,0,376:52:99:0.139 chr14 37135752 rs12881240 C T 1658.37 PASS BaseQRankSum=2.242;DP=137;Dels=0.00;FS=1.388;HRun=0;HaplotypeScore=7.2818;MQ=55;MQ0=0;MQRankSum=0.958;QD=12.10;ReadPosRankSum=-1.018;SB=-1183.31;TI=NM_006194;GI=PAX9;FC=Synonymous_H239H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,75:137:99:1688,0,1455:55:99:0.547 chr14 37135753 rs4904210 G C 1386.07 PASS BaseQRankSum=-1.495;DP=138;Dels=0.00;FS=1.379;HRun=1;HaplotypeScore=7.2818;MQ=54;MQ0=0;MQRankSum=1.030;QD=10.04;ReadPosRankSum=1.447;SB=-899.79;TI=NM_006194;GI=PAX9;FC=Missense_A240P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,60:138:99:1416,0,1756:54:99:0.438 chr14 38061742 rs7144658 C T 1643.19 PASS BaseQRankSum=1.585;DP=128;Dels=0.00;FS=9.792;HRun=1;HaplotypeScore=9.8564;MQ=58;MQ0=0;MQRankSum=-0.639;QD=12.84;ReadPosRankSum=-0.610;SB=-986.54;TI=NM_004496;GI=FOXA1;FC=Missense_A83T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,66:128:99:1673,0,1636:58:99:0.520 chr14 39502539 rs11418467 G GA 1991.39 PASS DP=60;FS=0.000;HRun=6;HaplotypeScore=81.2928;MQ=54;MQ0=0;QD=33.19;SB=-884.06;TI=NM_006364;GI=SEC23A;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,59:60:99:2033,181,0:54:99:0.983 chr14 39517925 rs12895000 T C 2123.49 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=29.09;SB=-1372.32;TI=NM_006364;GI=SEC23A;FC=Synonymous_K556K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2156,157,0:54:99:1.000 chr14 39556185 rs8018720 G C 2950.39 PASS BaseQRankSum=0.904;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8930;MQ=54;MQ0=0;MQRankSum=-1.150;QD=26.11;ReadPosRankSum=-0.567;SB=-1968.83;TI=NM_006364;GI=SEC23A;FC=Missense_L211V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,112:113:99:2983,177,0:54:99:0.991 chr14 42360633 rs6572117 T C 6767.79 PASS DP=229;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.4152;MQ=56;MQ0=0;QD=29.55;SB=-3830.73;TI=NM_152447;GI=LRFN5;FC=Synonymous_S522S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,228:228:99:6768,503,0:56:99:1.000 chr14 44974189 rs11621923 C A 3426.26 PASS BaseQRankSum=-0.641;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7515;MQ=48;MQ0=14;MQRankSum=5.776;QD=25.01;ReadPosRankSum=3.917;SB=-1175.96;TI=NM_032135;GI=FSCB;FC=Missense_A668S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:24,112:137:99:3426,201,0:48:99:0.824 chr14 44974922 rs3825632 A T 6563.74 PASS DP=214;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.3586;MQ=56;MQ0=0;QD=30.67;SB=-4024.92;TI=NM_032135;GI=FSCB;FC=Missense_D423E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,214:214:99:6564,479,0:56:99:1.000 chr14 44975510 rs3809430 C T 4910.22 PASS BaseQRankSum=1.660;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1236;MQ=58;MQ0=0;MQRankSum=1.684;QD=33.86;ReadPosRankSum=-1.540;SB=-2061.20;TI=NM_032135;GI=FSCB;FC=Synonymous_P227P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,143:145:99:4910,364,0:58:99:0.993 chr14 45644589 rs1367580 G T 919.74 PASS BaseQRankSum=-0.902;DP=61;Dels=0.00;FS=1.044;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=-0.959;QD=15.08;ReadPosRankSum=-0.426;SB=-289.39;TI=NM_020937;GI=FANCM;FC=Missense_V878L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,30:61:99:950,0,991:59:99:0.492 chr14 45650900 rs78211950 A G 1353.21 PASS BaseQRankSum=0.142;DP=100;Dels=0.00;FS=1.845;HRun=0;HaplotypeScore=2.7829;MQ=55;MQ0=0;MQRankSum=0.398;QD=13.53;ReadPosRankSum=-0.619;SB=-515.94;TI=NM_020937;GI=FANCM;FC=Missense_I1460V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,54:100:99:1383,0,1358:55:99:0.540 chr14 45654410 rs35262217 TCTTA T 2871.04 PASS BaseQRankSum=-0.476;DP=75;FS=0.000;HRun=0;HaplotypeScore=49.2389;MQ=59;MQ0=0;MQRankSum=1.408;QD=38.28;ReadPosRankSum=0.170;SB=-667.60;TI=NM_020937;GI=FANCM;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,47:75:99:2910,0,1633:59:99:0.627 chr14 45665468 rs3736772 C G 1031.31 PASS BaseQRankSum=1.664;DP=69;Dels=0.00;FS=1.477;HRun=0;HaplotypeScore=2.7880;MQ=59;MQ0=0;MQRankSum=0.402;QD=14.95;ReadPosRankSum=-0.222;SB=-97.23;TI=NM_020937;GI=FANCM;FC=Missense_P1812A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,33:69:99:1061,0,1069:59:99:0.478 chr14 50092471 rs9989177 T C 7891.97 PASS DP=236;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=5.5759;MQ=59;MQ0=0;QD=33.44;SB=-2365.96;TI=NM_018139,NM_001083908;GI=C14orf104,C14orf104;FC=Missense_D768G,Missense_D720G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,234:234:99:7892,578,0:59:99:1.000 chr14 50100386 rs2985687 T C 5764.05 PASS DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.1812;MQ=56;MQ0=0;QD=32.38;SB=-2936.25;TI=NM_018139,NM_001083908;GI=C14orf104,C14orf104;FC=Synonymous_T494T,Synonymous_T494T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,178:178:99:5764,430,0:56:99:1.000 chr14 50100683 rs2985686 C G 1438.95 PASS DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.1206;MQ=56;MQ0=0;QD=31.28;SB=-720.75;TI=NM_018139,NM_001083908;GI=C14orf104,C14orf104;FC=Synonymous_A395A,Synonymous_A395A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:99:1472,111,0:56:99:1.000 chr14 50101370 rs2985685 G A 4524.30 PASS BaseQRankSum=1.711;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.6235;MQ=54;MQ0=0;MQRankSum=0.202;QD=27.59;ReadPosRankSum=1.413;SB=-3061.09;TI=NM_018139,NM_001083908;GI=C14orf104,C14orf104;FC=Synonymous_A166A,Synonymous_A166A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,162:164:99:4524,328,0:54:99:0.994 chr14 50101682 rs2985684 C G 4114.03 PASS DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=58;MQ0=0;QD=34.00;SB=-1385.24;TI=NM_018139,NM_001083908;GI=C14orf104,C14orf104;FC=Missense_E62D,Missense_E62D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:4114,307,0:58:99:1.000 chr14 50769717 rs2297995 G A 1584.59 PASS DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.34;SB=-1011.74;TI=NM_024884;GI=L2HGDH;FC=Synonymous_I53I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1618,117,0:55:99:1.000 chr14 50778816 rs2275591 A C 1742.92 PASS BaseQRankSum=1.399;DP=151;Dels=0.00;FS=3.003;HRun=0;HaplotypeScore=4.5931;MQ=53;MQ0=0;MQRankSum=1.455;QD=11.54;ReadPosRankSum=-2.155;SB=-855.55;TI=NM_024884;GI=L2HGDH;FC=Missense_L18R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,72:151:99:1773,0,1854:53:99:0.477 chr14 50901768 rs17780143 G A 890.94 PASS BaseQRankSum=-1.800;DP=71;Dels=0.00;FS=3.189;HRun=0;HaplotypeScore=2.7776;MQ=53;MQ0=0;MQRankSum=0.638;QD=12.55;ReadPosRankSum=0.293;SB=-524.98;TI=NM_006575,NM_198794;GI=MAP4K5,MAP4K5;FC=Missense_T633M,Missense_T633M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,36:71:99:921,0,769:53:99:0.507 chr14 50929508 rs11624731 C A 2549.63 PASS DP=96;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9947;MQ=54;MQ0=0;QD=26.56;SB=-1800.08;TI=NM_006575,NM_198794;GI=MAP4K5,MAP4K5;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,96:96:99:2583,184,0:54:99:1.000 chr14 50943034 . TA T 162.47 R8 BaseQRankSum=-0.580;DP=34;FS=1.484;HRun=15;HaplotypeScore=96.5429;MQ=54;MQ0=0;MQRankSum=0.100;QD=4.78;ReadPosRankSum=-0.100;SB=-100.43;TI=NM_006575,NM_198794;GI=MAP4K5,MAP4K5;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,11:34:99:201,0,265:54:99:0.367 chr14 51057727 rs1060197 G A 3398.79 PASS DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=28.56;SB=-2313.44;TI=NM_001127713,NM_181598,NM_015915;GI=ATL1,ATL1,ATL1;FC=Synonymous_E117E,Synonymous_E117E,Synonymous_E117E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,118:119:99:3399,244,0:52:99:1.000 chr14 51376774 rs15669 G A 1901.08 PASS BaseQRankSum=1.184;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5757;MQ=58;MQ0=0;MQRankSum=-0.033;QD=13.02;ReadPosRankSum=3.039;SB=-1012.15;TI=NM_002863,NM_001163940;GI=PYGL,PYGL;FC=Synonymous_T672T,Synonymous_T638T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,74:146:99:1931,0,1831:58:99:0.507 chr14 51378590 rs11356035 CT C 2113.66 PASS BaseQRankSum=-0.340;DP=119;FS=0.000;HRun=3;HaplotypeScore=94.0960;MQ=56;MQ0=0;MQRankSum=-1.451;QD=17.76;ReadPosRankSum=-0.151;SB=-832.56;TI=NM_002863,NM_001163940;GI=PYGL,PYGL;FC=Splicing,Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,62:119:99:2153,0,1859:56:99:0.521 chr14 51410969 rs77316189 G A 972.25 PASS BaseQRankSum=0.545;DP=79;Dels=0.00;FS=1.897;HRun=1;HaplotypeScore=3.6214;MQ=55;MQ0=0;MQRankSum=2.078;QD=12.31;ReadPosRankSum=0.732;SB=-661.90;TI=NM_002863,NM_001163940;GI=PYGL,PYGL;FC=Synonymous_D51D,Synonymous_D51D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,42:79:99:1002,0,966:55:99:0.532 chr14 52182081 rs731715 T A 3610.39 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=54;MQ0=0;QD=31.12;SB=-1668.92;TI=NM_001042481,NM_152330;GI=FRMD6,FRMD6;FC=Synonymous_S288S,Synonymous_S288S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3610,262,0:54:99:1.000 chr14 52186966 rs2277495 G A 1665.35 PASS BaseQRankSum=-0.210;DP=126;Dels=0.00;FS=3.259;HRun=0;HaplotypeScore=8.9820;MQ=58;MQ0=0;MQRankSum=-0.024;QD=13.22;ReadPosRankSum=2.470;SB=-877.48;TI=NM_001042481,NM_152330;GI=FRMD6,FRMD6;FC=Synonymous_T398T,Synonymous_T398T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,65:126:99:1695,0,1623:58:99:0.516 chr14 52186972 rs2277494 A G 1530.57 PASS BaseQRankSum=-0.271;DP=136;Dels=0.00;FS=0.653;HRun=1;HaplotypeScore=13.8803;MQ=58;MQ0=0;MQRankSum=1.087;QD=11.25;ReadPosRankSum=-1.797;SB=-902.50;TI=NM_001042481,NM_152330;GI=FRMD6,FRMD6;FC=Synonymous_P400P,Synonymous_P400P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,63:136:99:1561,0,1874:58:99:0.467 chr14 54417522 rs17563 A G 1389.34 PASS DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58;MQ0=0;QD=34.73;SB=-80.66;TI=NM_130851,NM_001202,NM_130850;GI=BMP4,BMP4,BMP4;FC=Missense_V152A,Missense_V152A,Missense_V152A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:40:99:1422,108,0:58:99:1.000 chr14 60976537 rs33912345 C A 901.10 PASS BaseQRankSum=-0.809;DP=55;Dels=0.00;FS=1.076;HRun=1;HaplotypeScore=3.5926;MQ=57;MQ0=0;MQRankSum=-0.900;QD=16.38;ReadPosRankSum=1.337;SB=-505.82;TI=NM_007374;GI=SIX6;FC=Missense_H141N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,32:55:99:931,0,583:57:99:0.604 chr14 61789192 rs79204130 G A 1185.61 PASS BaseQRankSum=-0.294;DP=86;Dels=0.00;FS=6.099;HRun=0;HaplotypeScore=6.8926;MQ=57;MQ0=0;MQRankSum=-0.035;QD=13.79;ReadPosRankSum=0.519;SB=-592.27;TI=NM_006255;GI=PRKCH;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,45:86:99:1216,0,1247:57:99:0.523 chr14 61923912 . A G 4.59 LowGQX;LowDP BaseQRankSum=0.720;DP=6;Dels=0.00;FS=3.979;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.720;QD=0.77;ReadPosRankSum=0.720;SB=-28.61;TI=NM_006255;GI=PRKCH;FC=Missense_T327A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,2:6:32.73:33,0,110:60:5:0.333 chr14 61997226 rs1088680 C T 6790.76 PASS DP=249;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7616;MQ=51;MQ0=0;QD=27.27;SB=-4451.13;TI=NM_006255;GI=PRKCH;FC=Synonymous_N558N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,249:249:99:6791,488,0:51:99:1.000 chr14 64491695 rs4902264 T C 2316.93 PASS DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1968;MQ=47;MQ0=0;QD=25.74;SB=-1576.93;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Missense_M1969T,Missense_M1969T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:90:99:2350,169,0:47:99:1.000 chr14 64494278 rs10151127 C T 2240.73 PASS DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=31.56;SB=-1119.68;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Synonymous_L2161L,Synonymous_L2161L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:2274,169,0:57:99:1.000 chr14 64496749 rs4027402 C T 2786.27 PASS DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2312;MQ=53;MQ0=0;QD=26.79;SB=-2016.82;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Missense_A2284V,Missense_A2284V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:104:99:2819,199,0:53:99:1.000 chr14 64497930 rs4027404 G A 3653.85 PASS BaseQRankSum=1.652;DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8899;MQ=54;MQ0=0;MQRankSum=0.799;QD=28.11;ReadPosRankSum=1.546;SB=-2263.41;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Missense_S2359N,Missense_S2359N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,129:130:99:3654,262,0:54:99:0.992 chr14 64498037 rs4027405 G A 1523.95 PASS DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=32.42;SB=-395.45;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Missense_A2395T,Missense_A2395T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:99:1557,114,0:59:99:1.000 chr14 64519035 rs1890908 A G 5422.91 PASS DP=172;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=9.3891;MQ=53;MQ0=0;QD=31.53;SB=-2849.58;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Missense_S2802G,Missense_S2802G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,171:171:99:5423,400,0:53:99:1.000 chr14 64519455 rs3829767 A G 4592.41 PASS DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5135;MQ=57;MQ0=0;QD=31.03;SB=-1879.41;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Missense_I2942V,Missense_I2942V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:148:99:4592,340,0:57:99:1.000 chr14 64522674 rs8010911 G C 3989.92 PASS DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=32.18;SB=-2365.28;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Missense_D3253H,Missense_D3253H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,124:124:99:3990,289,0:57:99:1.000 chr14 64522843 rs8010699 A G 7152.63 PASS DP=252;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;QD=28.38;SB=-4338.45;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Missense_H3309R,Missense_H3309R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,252:252:99:7153,518,0:56:99:1.000 chr14 64612845 rs11629287 C T 1609.64 PASS BaseQRankSum=-0.123;DP=159;Dels=0.00;FS=2.858;HRun=2;HaplotypeScore=3.7878;MQ=51;MQ0=0;MQRankSum=0.796;QD=10.12;ReadPosRankSum=2.002;SB=-990.40;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Synonymous_I5181I,Synonymous_I5181I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,69:159:99:1640,0,1957:51:99:0.437 chr14 64612858 rs10151658 C A 1718.89 PASS BaseQRankSum=1.396;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8258;MQ=52;MQ0=0;MQRankSum=1.737;QD=10.29;ReadPosRankSum=1.008;SB=-1197.91;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Missense_L5186M,Missense_L5186M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,76:167:99:1749,0,1990:52:99:0.455 chr14 64637147 rs7161192 C A 1642.43 PASS BaseQRankSum=0.124;DP=117;Dels=0.00;FS=3.572;HRun=0;HaplotypeScore=4.8148;MQ=56;MQ0=0;MQRankSum=-1.075;QD=14.04;ReadPosRankSum=-0.771;SB=-1000.01;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Synonymous_L5734L,Synonymous_L5734L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,68:117:99:1672,0,1145:56:99:0.581 chr14 64656855 rs2256191 T C 727.46 PASS BaseQRankSum=0.314;DP=66;Dels=0.00;FS=0.961;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=-1.828;QD=11.02;ReadPosRankSum=-1.123;SB=-471.83;TI=NM_015180,NM_182914;GI=SYNE2,SYNE2;FC=Synonymous_L5980L,Synonymous_L5980L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,34:66:99:757,0,908:54:99:0.515 chr14 64681193 rs1152590 C T 235.83 SB;LowDP BaseQRankSum=-0.053;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.263;QD=14.74;ReadPosRankSum=-0.053;SB=-0.01;TI=NM_015180,NM_182914,NM_182913;GI=SYNE2,SYNE2,SYNE2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,8:16:99:266,0,265:60:99:0.500 chr14 64686125 rs35648226 G T 494.84 PASS BaseQRankSum=0.642;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.516;QD=11.78;ReadPosRankSum=1.096;SB=-195.44;TI=NM_015180,NM_182914,NM_182913,NM_182910;GI=SYNE2,SYNE2,SYNE2,SYNE2;FC=Synonymous_L6596L,Synonymous_L6619L,Synonymous_L253L,Synonymous_L127L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,20:42:99:525,0,593:58:99:0.476 chr14 64882380 rs1950902 A G 4643.64 PASS DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6748;MQ=57;MQ0=0;QD=32.70;SB=-1881.95;TI=NM_005956;GI=MTHFD1;FC=Missense_K134R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,142:142:99:4644,340,0:57:99:1.000 chr14 65245956 rs1741488 C T 892.40 PASS BaseQRankSum=0.692;DP=79;Dels=0.00;FS=3.269;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.712;QD=11.30;ReadPosRankSum=-1.672;SB=-275.92;TI=NM_001024858,NM_000347;GI=SPTB,SPTB;FC=Synonymous_V1494V,Synonymous_V1494V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,30:79:99:922,0,1121:58:99:0.380 chr14 65245962 rs1741487 A G 806.36 PASS BaseQRankSum=1.416;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-0.339;QD=10.61;ReadPosRankSum=-1.071;SB=-319.64;TI=NM_001024858,NM_000347;GI=SPTB,SPTB;FC=Synonymous_L1492L,Synonymous_L1492L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,28:76:99:836,0,1098:58:99:0.368 chr14 65246623 rs1626923 T C 1175.22 PASS BaseQRankSum=0.965;DP=89;Dels=0.00;FS=14.887;HRun=1;HaplotypeScore=7.6533;MQ=57;MQ0=0;MQRankSum=1.129;QD=13.20;ReadPosRankSum=0.998;SB=-200.30;TI=NM_001024858,NM_000347;GI=SPTB,SPTB;FC=Synonymous_R1431R,Synonymous_R1431R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,43:89:99:1205,0,1163:57:99:0.483 chr14 65249052 rs17245552 C G 1265.51 PASS BaseQRankSum=0.304;DP=82;Dels=0.00;FS=2.031;HRun=0;HaplotypeScore=4.6061;MQ=54;MQ0=0;MQRankSum=1.181;QD=15.43;ReadPosRankSum=0.344;SB=-777.51;TI=NM_001024858,NM_000347;GI=SPTB,SPTB;FC=Missense_G1408R,Missense_G1408R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,56:82:99:1296,0,643:54:99:0.683 chr14 65253232 rs77806 T C 1398.52 PASS BaseQRankSum=0.413;DP=105;Dels=0.00;FS=2.883;HRun=2;HaplotypeScore=2.6823;MQ=57;MQ0=0;MQRankSum=2.791;QD=13.32;ReadPosRankSum=0.247;SB=-422.87;TI=NM_001024858,NM_000347;GI=SPTB,SPTB;FC=Missense_N1151D,Missense_N1151D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,52:105:99:1429,0,1331:57:99:0.495 chr14 66028446 rs3783711 A G 2839.10 PASS BaseQRankSum=-0.936;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=-0.398;QD=29.57;ReadPosRankSum=2.142;SB=-1203.74;TI=NM_178156,NM_178155,NM_178154,NM_004480;GI=FUT8,FUT8,FUT8,FUT8;FC=Synonymous_Q55Q,Synonymous_Q55Q,Synonymous_Q55Q,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,94:96:99:2872,169,0:52:99:0.979 chr14 67147816 rs3759753 T C 577.41 PASS BaseQRankSum=-1.433;DP=48;Dels=0.00;FS=4.040;HRun=1;HaplotypeScore=2.7547;MQ=57;MQ0=0;MQRankSum=1.474;QD=12.03;ReadPosRankSum=0.258;SB=-279.73;TI=NM_001024218,NM_020806;GI=GPHN,GPHN;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,24:48:99:607,0,658:57:99:0.500 chr14 68234539 rs3742883 T C 3413.87 PASS DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7853;MQ=56;MQ0=0;QD=32.51;SB=-1227.45;TI=NM_015346;GI=ZFYVE26;FC=Missense_N1891S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:3414,253,0:56:99:1.000 chr14 68256270 . T C 995.04 PASS BaseQRankSum=-0.419;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=0.419;QD=15.08;ReadPosRankSum=-0.676;SB=-550.67;TI=NM_015346;GI=ZFYVE26;FC=Missense_N934S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,36:66:99:1025,0,937:55:99:0.545 chr14 68264867 rs12891164 A G 1449.74 PASS DP=46;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=31.52;SB=-482.34;TI=NM_015346;GI=ZFYVE26;FC=Synonymous_P704P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:99:1483,111,0:57:99:1.000 chr14 70263648 rs4646285 C T 2022.94 PASS BaseQRankSum=-0.917;DP=159;Dels=0.00;FS=0.596;HRun=0;HaplotypeScore=13.8002;MQ=55;MQ0=0;MQRankSum=-0.637;QD=12.72;ReadPosRankSum=-0.920;SB=-1269.73;TI=NM_003049;GI=SLC10A1;FC=Synonymous_T75T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,85:159:99:2053,0,1699:55:99:0.535 chr14 70480215 rs1885482 T A 636.18 PASS BaseQRankSum=2.037;DP=69;Dels=0.00;FS=2.167;HRun=1;HaplotypeScore=2.8937;MQ=56;MQ0=0;MQRankSum=1.514;QD=9.22;ReadPosRankSum=-0.966;SB=-335.48;TI=NM_022137,NM_001034852;GI=SMOC1,SMOC1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,28:69:99:666,0,974:56:99:0.412 chr14 73673178 rs17125721 A G 764.80 PASS BaseQRankSum=2.249;DP=79;Dels=0.00;FS=0.847;HRun=1;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=0.517;QD=9.68;ReadPosRankSum=1.039;SB=-537.51;TI=NM_007318,NM_000021;GI=PSEN1,PSEN1;FC=Missense_E314G,Missense_E318G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,36:79:99:795,0,1106:56:99:0.456 chr14 74424938 rs3180946 T C 1055.73 PASS BaseQRankSum=-1.061;DP=117;Dels=0.00;FS=1.524;HRun=0;HaplotypeScore=10.5104;MQ=54;MQ0=0;MQRankSum=3.345;QD=9.02;ReadPosRankSum=0.498;SB=-648.96;TI=NM_182480,NM_182476;GI=COQ6,COQ6;FC=Synonymous_H115H,Synonymous_H190H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,44:117:99:1086,0,1784:54:99:0.376 chr14 74428445 rs8500 G A 1300.61 PASS BaseQRankSum=2.522;DP=105;Dels=0.00;FS=3.788;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=0.676;QD=12.39;ReadPosRankSum=-1.144;SB=-564.99;TI=NM_182480,NM_182476;GI=COQ6,COQ6;FC=Missense_V331M,Missense_V406M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,52:105:99:1331,0,1340:55:99:0.495 chr14 74539325 rs78518596 C A 740.05 PASS BaseQRankSum=1.805;DP=69;Dels=0.01;FS=2.041;HRun=7;HaplotypeScore=18.3255;MQ=56;MQ0=0;MQRankSum=1.617;QD=10.73;ReadPosRankSum=-1.053;SB=-413.24;TI=NM_005589;GI=ALDH6A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,27:68:99:770,0,997:56:99:0.397 chr14 74759006 rs3742801 C T 2924.55 PASS DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=52;MQ0=0;QD=29.54;SB=-1640.12;TI=NR_003256,NM_005050;GI=ABCD4,ABCD4;FC=Silent,Missense_E368K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,99:99:99:2958,214,0:52:99:1.000 chr14 74759301 rs4148078 G T 3185.32 PASS DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7597;MQ=56;MQ0=0;QD=33.89;SB=-1239.05;TI=NR_003256,NM_005050;GI=ABCD4,ABCD4;FC=Silent,Synonymous_L327L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:3218,238,0:56:99:1.000 chr14 74759477 rs4148077 C T 5625.00 PASS BaseQRankSum=-0.185;DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0357;MQ=55;MQ0=0;MQRankSum=1.712;QD=28.99;ReadPosRankSum=1.190;SB=-3559.49;TI=NR_003256,NM_005050;GI=ABCD4,ABCD4;FC=Silent,Missense_A304T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,191:194:99:5625,371,0:55:99:0.990 chr14 74766352 rs2301345 A G 1531.54 PASS DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=52;MQ0=0;QD=23.56;SB=-1238.41;TI=NR_003256,NM_005050;GI=ABCD4,ABCD4;FC=Silent,Synonymous_L62L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:1565,108,0:52:99:1.000 chr14 74991855 rs862031 A G 1503.29 PASS DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=35.79;SB=-357.08;TI=NM_000428;GI=LTBP2;FC=Synonymous_T834T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:99:1536,114,0:59:99:1.000 chr14 74992800 rs699374 A G 1590.16 PASS BaseQRankSum=1.247;DP=125;Dels=0.00;FS=1.487;HRun=1;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=0.723;QD=12.72;ReadPosRankSum=-0.348;SB=-746.81;TI=NM_000428;GI=LTBP2;FC=Synonymous_T802T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,63:125:99:1620,0,1490:53:99:0.504 chr14 75483812 rs13712 T C 1073.91 PASS BaseQRankSum=0.533;DP=95;Dels=0.00;FS=0.787;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.399;QD=11.30;ReadPosRankSum=1.077;SB=-535.70;TI=NM_001040108,NM_014381;GI=MLH3,MLH3;FC=Synonymous_Q1445Q,Synonymous_Q1421Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,45:95:99:1104,0,1273:54:99:0.474 chr14 75513828 rs175080 G A 4198.30 PASS BaseQRankSum=2.828;DP=352;Dels=0.00;FS=1.264;HRun=1;HaplotypeScore=20.2058;MQ=56;MQ0=0;MQRankSum=0.398;QD=11.93;ReadPosRankSum=-0.612;SB=-2624.18;TI=NM_001040108,NM_014381;GI=MLH3,MLH3;FC=Missense_P844L,Missense_P844L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:186,166:352:99:4198,0,5003:56:99:0.472 chr14 75513883 rs175081 T C 10173.05 PASS BaseQRankSum=1.721;DP=323;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0833;MQ=56;MQ0=0;MQRankSum=1.689;QD=31.50;ReadPosRankSum=-0.563;SB=-5429.11;TI=NM_001040108,NM_014381;GI=MLH3,MLH3;FC=Missense_N826D,Missense_N826D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,322:323:99:10173,746,0:56:99:0.997 chr14 76543004 rs17783366 G A 775.10 PASS BaseQRankSum=1.305;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=57;MQ0=0;MQRankSum=1.749;QD=8.33;ReadPosRankSum=0.995;SB=-499.08;TI=NM_052873,NM_001102564;GI=C14orf179,C14orf179;FC=Missense_D94N,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,35:93:99:805,0,1396:57:99:0.376 chr14 76550346 rs997237 C T 889.43 PASS BaseQRankSum=-0.378;DP=86;Dels=0.00;FS=0.845;HRun=0;HaplotypeScore=9.8480;MQ=54;MQ0=0;MQRankSum=-0.503;QD=10.34;ReadPosRankSum=-2.308;SB=-483.65 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,36:86:99:919,0,1145:54:99:0.424 chr14 76957887 rs2361293 T C 3976.11 PASS DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=52;MQ0=0;QD=27.23;SB=-2646.42;TI=NM_004452;GI=ESRRB;FC=Synonymous_Y295Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:3976,283,0:52:99:1.000 chr14 77745193 rs3209079 A C 807.32 PASS BaseQRankSum=1.925;DP=82;Dels=0.00;FS=5.983;HRun=0;HaplotypeScore=3.7874;MQ=55;MQ0=0;MQRankSum=1.440;QD=9.85;ReadPosRankSum=1.839;SB=-551.25;TI=NM_013382;GI=POMT2;FC=Synonymous_L637L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,36:82:99:837,0,1168:55:99:0.444 chr14 77751925 rs2270419 C T 1172.62 PASS BaseQRankSum=-0.173;DP=101;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.1527;MQ=55;MQ0=0;MQRankSum=0.499;QD=11.61;ReadPosRankSum=-0.092;SB=-741.14;TI=NM_013382;GI=POMT2;FC=Synonymous_R461R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,50:101:99:1203,0,1401:55:99:0.495 chr14 77793207 rs7975 G A 1237.96 PASS BaseQRankSum=2.006;DP=103;Dels=0.00;FS=3.680;HRun=1;HaplotypeScore=0.8941;MQ=50;MQ0=0;MQRankSum=1.378;QD=12.02;ReadPosRankSum=-1.213;SB=-711.30;TI=NM_145871,NM_145870,NM_001513;GI=GSTZ1,GSTZ1,GSTZ1;FC=Missense_E32K,Missense_E32K,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,55:103:99:1268,0,1112:50:99:0.534 chr14 77794283 rs1046428 T C 3631.88 PASS DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3608;MQ=53;MQ0=0;QD=27.31;SB=-2098.04;TI=NM_145871,NM_145870,NM_001513;GI=GSTZ1,GSTZ1,GSTZ1;FC=Silent,Missense_M82T,Missense_M27T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:3632,262,0:53:99:1.000 chr14 78028803 rs2364602 A G 2772.43 PASS DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8821;MQ=54;MQ0=0;QD=29.81;SB=-1680.82;TI=NM_004863;GI=SPTLC2;FC=Synonymous_N262N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:93:99:2805,205,0:54:99:1.000 chr14 80669639 . TAA T 275.07 R8 BaseQRankSum=-0.517;DP=26;FS=0.000;HRun=15;HaplotypeScore=73.3047;MQ=55;MQ0=0;MQRankSum=1.065;QD=10.58;ReadPosRankSum=0.091;SB=-80.72;TI=NM_001007023,NM_000793,NM_013989;GI=DIO2,DIO2,DIO2;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,9:26:99:314,0,141:55:99:0.563 chr14 81562998 rs2075179 T C 1521.13 PASS BaseQRankSum=1.553;DP=161;Dels=0.00;FS=2.796;HRun=0;HaplotypeScore=2.8933;MQ=53;MQ0=0;MQRankSum=2.608;QD=9.45;ReadPosRankSum=1.091;SB=-1071.90;TI=NM_001018036,NM_001142626,NM_000369;GI=TSHR,TSHR,TSHR;FC=Synonymous_N187N,Synonymous_N187N,Synonymous_N187N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,69:161:99:1551,0,2293:53:99:0.429 chr14 88401213 rs421262 T C 2315.19 PASS DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=27.24;SB=-1296.00;TI=NM_000153;GI=GALC;FC=Missense_T641A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2348,169,0:57:99:1.000 chr14 88407730 . G A 4.03 LowGQX;LowVariantFreq;SB BaseQRankSum=-2.123;DP=50;Dels=0.00;FS=5.303;HRun=13;HaplotypeScore=27.0441;MQ=49;MQ0=0;MQRankSum=-0.690;QD=0.08;ReadPosRankSum=-1.312;SB=-0.01;TI=NM_000153;GI=GALC;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,8:50:31.84:32,0,951:49:4:0.163 chr14 88407734 rs448805 G C 1361.37 PASS DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=33.8624;MQ=49;MQ0=0;QD=26.18;SB=-533.78;TI=NM_000153;GI=GALC;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:52:99:1394,117,0:49:99:1.000 chr14 88407875 rs421466 T A 3019.38 PASS DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=28.48;SB=-1429.32;TI=NM_000153;GI=GALC;FC=Synonymous_V566V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:3052,229,0:50:99:1.000 chr14 88411947 rs367327 T C 1716.29 PASS DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8936;MQ=56;MQ0=0;QD=29.09;SB=-794.58;TI=NM_000153;GI=GALC;FC=Synonymous_T540T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:59:99:1749,129,0:56:99:1.000 chr14 88417095 . GA G 1292.53 R8 BaseQRankSum=-0.981;DP=56;FS=0.000;HRun=11;HaplotypeScore=81.5779;MQ=52;MQ0=0;MQRankSum=-0.235;QD=23.08;ReadPosRankSum=-0.903;SB=-441.54;TI=NM_000153;GI=GALC;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:7,48:56:71.73:1335,72,0:52:72:0.873 chr14 88431898 rs12888666 C T 2897.37 PASS DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8773;MQ=51;MQ0=0;QD=28.69;SB=-1336.23;TI=NM_000153,NM_001037525;GI=GALC,GALC;FC=Synonymous_Q328Q,Synonymous_Q328Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2930,214,0:51:99:1.000 chr14 88852166 rs4904448 G A 743.30 PASS BaseQRankSum=0.918;DP=84;Dels=0.00;FS=0.849;HRun=1;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=2.225;QD=8.85;ReadPosRankSum=0.769;SB=-462.34;TI=NM_018418,NM_001040428;GI=SPATA7,SPATA7;FC=Missense_D2N,Missense_D2N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,31:84:99:773,0,1350:56:99:0.369 chr14 88862529 rs3179969 G A 1128.78 PASS BaseQRankSum=1.241;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.756;QD=12.54;ReadPosRankSum=0.182;SB=-723.38;TI=NM_018418,NM_001040428;GI=SPATA7,SPATA7;FC=Missense_V74M,Missense_V42M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,48:90:99:1159,0,1032:54:99:0.533 chr14 88935925 rs2297129 A G 1884.55 PASS BaseQRankSum=3.060;DP=178;Dels=0.00;FS=0.576;HRun=1;HaplotypeScore=10.1141;MQ=55;MQ0=0;MQRankSum=2.051;QD=10.59;ReadPosRankSum=0.844;SB=-987.51;TI=NM_007039;GI=PTPN21;FC=Synonymous_T1051T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,80:178:99:1915,0,2374:55:99:0.449 chr14 88938652 rs2274736 A G 2547.49 PASS BaseQRankSum=-0.026;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4697;MQ=55;MQ0=0;MQRankSum=3.900;QD=12.13;ReadPosRankSum=1.778;SB=-1310.14;TI=NM_007039;GI=PTPN21;FC=Missense_V936A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,102:210:99:2577,0,2657:55:99:0.486 chr14 88945591 rs879932 A G 1056.88 PASS BaseQRankSum=0.220;DP=98;Dels=0.00;FS=6.753;HRun=2;HaplotypeScore=7.1505;MQ=57;MQ0=0;MQRankSum=0.481;QD=10.78;ReadPosRankSum=-0.885;SB=-489.59;TI=NM_007039;GI=PTPN21;FC=Synonymous_P728P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,40:98:99:1087,0,1582:57:99:0.408 chr14 88946053 rs28617592 G T 823.57 PASS BaseQRankSum=2.005;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.0071;MQ=50;MQ0=0;MQRankSum=1.180;QD=13.50;ReadPosRankSum=-0.427;SB=-174.20;TI=NM_007039;GI=PTPN21;FC=Synonymous_P574P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,28:61:99:854,0,803:50:99:0.459 chr14 88946622 rs2401751 G A 2459.59 PASS BaseQRankSum=1.684;DP=231;Dels=0.00;FS=3.701;HRun=1;HaplotypeScore=11.7014;MQ=54;MQ0=0;MQRankSum=-0.516;QD=10.65;ReadPosRankSum=-1.517;SB=-1506.92;TI=NM_007039;GI=PTPN21;FC=Missense_L385F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,110:231:99:2490,0,3382:54:99:0.476 chr14 89042180 rs1469602 T G 804.02 PASS BaseQRankSum=2.003;DP=74;Dels=0.00;FS=3.248;HRun=0;HaplotypeScore=6.7006;MQ=53;MQ0=0;MQRankSum=1.804;QD=10.87;ReadPosRankSum=0.292;SB=-549.19;TI=NM_207660,NM_001160104,NM_024824,NM_001160103,NM_207661;GI=ZC3H14,ZC3H14,ZC3H14,ZC3H14,ZC3H14;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,37:74:99:834,0,795:53:99:0.507 chr14 91700846 rs2540862 G A 432.71 PASS BaseQRankSum=0.335;DP=30;Dels=0.00;FS=3.473;HRun=0;HaplotypeScore=3.8700;MQ=60;MQ0=0;MQRankSum=-1.632;QD=14.42;ReadPosRankSum=0.711;SB=-253.15;TI=NM_001177676,NM_003485;GI=GPR68,GPR68;FC=Synonymous_R183R,Synonymous_R183R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,17:30:99:463,0,331:60:99:0.567 chr14 91739081 rs941920 A G 1913.45 PASS BaseQRankSum=5.787;DP=143;Dels=0.00;FS=9.023;HRun=2;HaplotypeScore=5.5720;MQ=57;MQ0=0;MQRankSum=0.018;QD=13.38;ReadPosRankSum=-0.653;SB=-827.41;TI=NM_001080414;GI=CCDC88C;FC=Missense_L1992P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,76:143:99:1943,0,1628:57:99:0.531 chr14 91744472 . G A 1981.45 PASS BaseQRankSum=0.329;DP=191;Dels=0.00;FS=0.536;HRun=0;HaplotypeScore=10.8365;MQ=55;MQ0=0;MQRankSum=-0.749;QD=10.37;ReadPosRankSum=-1.290;SB=-1454.96;TI=NM_001080414;GI=CCDC88C;FC=Missense_R1618W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,90:191:99:2011,0,2401:55:99:0.476 chr14 91760522 rs12891713 C T 1105.55 PASS BaseQRankSum=0.792;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6362;MQ=57;MQ0=0;MQRankSum=-2.092;QD=13.99;ReadPosRankSum=-0.950;SB=-438.49;TI=NM_001080414;GI=CCDC88C;FC=Synonymous_Q1369Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,43:79:99:1136,0,889:57:99:0.544 chr14 92347680 rs2430347 A G 1389.56 PASS BaseQRankSum=2.717;DP=140;Dels=0.00;FS=3.046;HRun=0;HaplotypeScore=3.6193;MQ=53;MQ0=0;MQRankSum=0.174;QD=9.93;ReadPosRankSum=-1.002;SB=-903.77;TI=NM_006329;GI=FBLN5;FC=Synonymous_I315I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,64:140:99:1420,0,1901:53:99:0.457 chr14 92549586 rs16999141 G A 714.22 PASS BaseQRankSum=-0.632;DP=77;Dels=0.00;FS=1.891;HRun=1;HaplotypeScore=5.4377;MQ=55;MQ0=0;MQRankSum=-0.475;QD=9.28;ReadPosRankSum=0.172;SB=-457.86;TI=NR_028455,NM_001164782,NR_028458,NM_004993,NR_028456,NR_028459,NR_028465,NM_001164774,NM_001164779,NM_001164781,NR_028457,NR_028466,NM_030660,NR_028462,NR_028470,NR_028469,NR_028453,NR_028454,NM_001127696,NR_028464,NR_031765,NM_001164780,NR_028463,NM_001164776,NR_028468,NR_028461,NR_028460,NR_028467,NM_001164778,NM_001164777,NM_001127697;GI=ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3,ATXN3;FC=Silent,Silent,Silent,Synonymous_V164V,Silent,Silent,Silent,Silent,Synonymous_V43V,Synonymous_V94V,Silent,Silent,Synonymous_V109V,Silent,Silent,Silent,Silent,Silent,Synonymous_V149V,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_V113V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,34:77:99:744,0,1039:55:99:0.447 chr14 92588002 rs3818263 T G 1526.69 PASS BaseQRankSum=-1.668;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3631;MQ=53;MQ0=0;MQRankSum=1.791;QD=25.03;ReadPosRankSum=2.327;SB=-877.75;TI=NM_004545;GI=NDUFB1;FC=Synonymous_V40V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,58:61:75.62:1560,76,0:53:76:0.967 chr14 93276654 rs1040835 T C 3867.91 PASS BaseQRankSum=1.708;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=50;MQ0=0;MQRankSum=-1.350;QD=26.68;ReadPosRankSum=1.230;SB=-2586.66;TI=NM_005113;GI=GOLGA5;FC=Missense_F350L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,144:145:99:3868,274,0:50:99:0.993 chr14 93399050 rs9658667 G A 316.05 PASS BaseQRankSum=-0.876;DP=29;Dels=0.00;FS=1.585;HRun=0;HaplotypeScore=0.9998;MQ=59;MQ0=0;MQRankSum=0.562;QD=10.90;ReadPosRankSum=-0.607;SB=-84.64;TI=NM_001275;GI=CHGA;FC=Missense_G382S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,11:29:99:346,0,501:59:99:0.379 chr14 93401178 rs941581 A G 789.27 PASS BaseQRankSum=0.813;DP=80;Dels=0.00;FS=0.869;HRun=1;HaplotypeScore=1.8583;MQ=51;MQ0=0;MQRankSum=1.299;QD=9.87;ReadPosRankSum=1.105;SB=-464.31;TI=NM_001275;GI=CHGA;FC=Synonymous_E441E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,34:80:99:819,0,1078:51:99:0.425 chr14 93693422 rs2905 C T 1476.76 PASS BaseQRankSum=-0.604;DP=119;Dels=0.00;FS=2.351;HRun=0;HaplotypeScore=5.3645;MQ=52;MQ0=0;MQRankSum=1.508;QD=12.41;ReadPosRankSum=0.694;SB=-800.13;TI=NM_175748,NM_001100417;GI=UBR7,UBR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,62:119:99:1507,0,1394:52:99:0.521 chr14 93693604 rs10144530 T G 6463.43 PASS BaseQRankSum=1.566;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2515;MQ=57;MQ0=0;MQRankSum=-0.075;QD=30.93;ReadPosRankSum=-0.655;SB=-2802.33;TI=NM_175748,NM_001100417;GI=UBR7,UBR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,208:209:99:6463,447,0:57:99:0.995 chr14 93693831 rs11621915 C T 3708.75 PASS BaseQRankSum=-1.654;DP=268;Dels=0.00;FS=5.736;HRun=1;HaplotypeScore=8.1211;MQ=57;MQ0=0;MQRankSum=0.657;QD=13.84;ReadPosRankSum=-1.493;SB=-2087.26;TI=NM_175748,NM_001100417;GI=UBR7,UBR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:131,137:268:99:3709,0,3486:57:99:0.511 chr14 94750292 rs1950641 G A 980.45 PASS BaseQRankSum=-1.559;DP=60;Dels=0.00;FS=5.503;HRun=0;HaplotypeScore=0.9995;MQ=58;MQ0=0;MQRankSum=2.084;QD=16.34;ReadPosRankSum=-0.375;SB=-254.73;TI=NM_016186,NM_001100607;GI=SERPINA10,SERPINA10;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,35:60:99:1010,0,734:58:99:0.583 chr14 94756450 rs2232700 T A 2263.39 PASS BaseQRankSum=-0.695;DP=214;Dels=0.00;FS=4.015;HRun=0;HaplotypeScore=7.3367;MQ=56;MQ0=0;MQRankSum=3.185;QD=10.58;ReadPosRankSum=0.789;SB=-1332.30;TI=NM_016186,NM_001100607;GI=SERPINA10,SERPINA10;FC=Missense_T161S,Missense_T161S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,94:214:99:2293,0,3294:56:99:0.441 chr14 94756750 rs941591 T C 1215.59 PASS BaseQRankSum=-1.126;DP=91;Dels=0.00;FS=1.742;HRun=1;HaplotypeScore=5.3371;MQ=58;MQ0=0;MQRankSum=-0.092;QD=13.36;ReadPosRankSum=1.341;SB=-498.77;TI=NM_016186,NM_001100607;GI=SERPINA10,SERPINA10;FC=Missense_S61G,Missense_S61G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,42:91:99:1246,0,1319:58:99:0.462 chr14 94756794 rs941590 T C 1116.02 PASS BaseQRankSum=3.344;DP=78;Dels=0.00;FS=0.926;HRun=2;HaplotypeScore=2.6823;MQ=58;MQ0=0;MQRankSum=-0.065;QD=14.31;ReadPosRankSum=-0.895;SB=-446.18;TI=NM_016186,NM_001100607;GI=SERPINA10,SERPINA10;FC=Missense_K46R,Missense_K46R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,38:78:99:1146,0,1092:58:99:0.487 chr14 94772504 rs1042394 G A 1054.39 PASS BaseQRankSum=0.760;DP=88;Dels=0.00;FS=0.822;HRun=1;HaplotypeScore=2.6823;MQ=53;MQ0=0;MQRankSum=-1.142;QD=11.98;ReadPosRankSum=0.692;SB=-556.85;TI=NM_001756;GI=SERPINA6;FC=Synonymous_L312L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,42:88:99:1084,0,1136:53:99:0.483 chr14 94776219 rs2228542 C T 1644.82 PASS BaseQRankSum=0.805;DP=162;Dels=0.00;FS=3.715;HRun=0;HaplotypeScore=5.4678;MQ=51;MQ0=0;MQRankSum=1.034;QD=10.15;ReadPosRankSum=-1.293;SB=-1026.36;TI=NM_001756;GI=SERPINA6;FC=Synonymous_S246S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,74:162:99:1675,0,2017:51:99:0.457 chr14 94776221 rs2228541 A C 2019.69 PASS BaseQRankSum=1.777;DP=162;Dels=0.00;FS=4.712;HRun=0;HaplotypeScore=6.4644;MQ=51;MQ0=0;MQRankSum=0.889;QD=12.47;ReadPosRankSum=1.178;SB=-1464.66;TI=NM_001756;GI=SERPINA6;FC=Missense_S246A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,88:162:99:2050,0,1616:51:99:0.543 chr14 94849345 . GAGA G 1563.45 PASS BaseQRankSum=-1.479;DP=70;FS=0.000;HRun=0;HaplotypeScore=78.7189;MQ=57;MQ0=0;MQRankSum=-0.048;QD=22.34;ReadPosRankSum=-1.796;SB=-675.47;TI=NM_000295,NM_001127706,NM_001127701,NM_001002235,NM_001002236,NM_001127705,NM_001127703,NM_001127704,NM_001127707,NM_001127702,NM_001127700;GI=SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1,SERPINA1;FC=1AA_Deletion,1AA_Deletion,1AA_Deletion,1AA_Deletion,1AA_Deletion,1AA_Deletion,1AA_Deletion,1AA_Deletion,1AA_Deletion,1AA_Deletion,1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,31:70:99:1602,0,1511:57:99:0.463 chr14 95080803 rs4934 G A 413.02 SB BaseQRankSum=2.196;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6545;MQ=56;MQ0=0;MQRankSum=0.732;QD=16.52;ReadPosRankSum=-1.376;SB=-0.01;TI=NM_001085;GI=SERPINA3;FC=Missense_A9T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,14:25:99:443,0,292:56:99:0.583 chr14 95566108 rs66997818 C A 2752.06 PASS BaseQRankSum=1.694;DP=107;Dels=0.16;FS=0.000;HRun=3;HaplotypeScore=154.3339;MQ=50;MQ0=0;MQRankSum=1.578;QD=25.72;ReadPosRankSum=-1.732;SB=-945.72;TI=NM_001195573,NM_030621,NM_177438;GI=DICER1,DICER1,DICER1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,89:90:99:2785,205,0:50:99:0.989 chr14 96707457 rs5224 A G 1351.88 PASS BaseQRankSum=-1.102;DP=44;Dels=0.00;FS=4.574;HRun=1;HaplotypeScore=1.7608;MQ=57;MQ0=0;MQRankSum=0.236;QD=30.72;ReadPosRankSum=0.866;SB=-521.02;TI=NM_000623;GI=BDKRB2;FC=Synonymous_T264T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,43:44:67.70:1385,68,0:57:68:0.977 chr14 97299853 rs2145635 A G 1010.51 PASS BaseQRankSum=0.406;DP=82;Dels=0.00;FS=0.850;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=0.500;QD=12.32;ReadPosRankSum=0.107;SB=-644.60;TI=NM_003384;GI=VRK1;FC=Synonymous_A15A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,46:82:99:1041,0,794:54:99:0.561 chr14 97321689 rs2230532 C T 1398.48 PASS BaseQRankSum=-2.910;DP=116;Dels=0.00;FS=2.396;HRun=0;HaplotypeScore=4.5761;MQ=51;MQ0=0;MQRankSum=0.227;QD=12.06;ReadPosRankSum=-0.299;SB=-1003.11;TI=NM_003384;GI=VRK1;FC=Synonymous_G235G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,63:116:99:1428,0,1236:51:99:0.543 chr14 102446161 rs3818188 G A 934.06 PASS BaseQRankSum=0.580;DP=55;Dels=0.00;FS=5.974;HRun=1;HaplotypeScore=3.7874;MQ=54;MQ0=0;MQRankSum=-0.078;QD=16.98;ReadPosRankSum=0.026;SB=-333.34;TI=NM_001376;GI=DYNC1H1;FC=Synonymous_P208P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,34:55:99:964,0,493:54:99:0.618 chr14 102550803 rs4947 G A 3216.43 PASS DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=27.03;SB=-1989.58;TI=NM_005348,NM_001017963;GI=HSP90AA1,HSP90AA1;FC=Synonymous_N360N,Synonymous_N482N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,119:119:99:3249,232,0:57:99:1.000 chr14 102568296 rs10873531 G A 4455.98 PASS DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=52;MQ0=0;QD=27.34;SB=-2829.29;TI=NM_001017963;GI=HSP90AA1;FC=Synonymous_T94T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,162:163:99:4456,322,0:52:99:1.000 chr14 102568367 rs8005905 T A 4193.08 PASS DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4430;MQ=55;MQ0=0;QD=28.72;SB=-2788.26;TI=NM_001017963;GI=HSP90AA1;FC=Missense_M71L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:4193,301,0:55:99:1.000 chr14 103342049 rs1131877 T C 742.83 PASS BaseQRankSum=-0.980;DP=49;Dels=0.00;FS=2.886;HRun=0;HaplotypeScore=3.7861;MQ=54;MQ0=0;MQRankSum=0.939;QD=15.16;ReadPosRankSum=0.818;SB=-198.32;TI=NM_145726,NM_001199427,NM_003300,NM_145725;GI=TRAF3,TRAF3,TRAF3,TRAF3;FC=Missense_M129T,Missense_M129T,Missense_M129T,Missense_M129T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,28:49:99:773,0,574:54:99:0.571 chr14 103416096 rs12590961 G A 734.95 PASS BaseQRankSum=1.297;DP=81;Dels=0.00;FS=4.599;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=1.995;QD=9.07;ReadPosRankSum=1.354;SB=-471.10;TI=NM_006035;GI=CDC42BPB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,34:81:99:765,0,1317:57:99:0.420 chr14 103440473 rs8009219 G C 5495.88 PASS DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2958;MQ=54;MQ0=0;QD=30.36;SB=-3405.53;TI=NM_006035;GI=CDC42BPB;FC=Synonymous_L507L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,181:181:99:5496,403,0:54:99:1.000 chr14 103442209 rs35953480 G A 2216.40 PASS BaseQRankSum=0.355;DP=190;Dels=0.00;FS=3.406;HRun=0;HaplotypeScore=9.1399;MQ=56;MQ0=0;MQRankSum=0.273;QD=11.67;ReadPosRankSum=-2.508;SB=-1497.08;TI=NM_006035;GI=CDC42BPB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,96:190:99:2246,0,2266:56:99:0.505 chr14 103593950 rs1132339 C G 4853.11 PASS DP=162;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.7800;MQ=53;MQ0=0;QD=29.96;SB=-2545.52;TI=NM_006291;GI=TNFAIP2;FC=Missense_Q282E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,162:162:99:4853,355,0:53:99:1.000 chr14 104165753 rs861539 G A 1114.89 PASS BaseQRankSum=0.047;DP=87;Dels=0.00;FS=0.813;HRun=0;HaplotypeScore=9.1247;MQ=55;MQ0=0;MQRankSum=0.599;QD=12.81;ReadPosRankSum=-0.225;SB=-688.92;TI=NM_182923,NM_001130107,NM_005432,NM_001100118,NM_001100119;GI=KLC1,KLC1,XRCC3,XRCC3,XRCC3;FC=Silent,Silent,Missense_T241M,Missense_T241M,Missense_T241M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,43:87:99:1145,0,1237:55:99:0.494 chr14 105167807 rs4983530 C T 4667.59 PASS DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5211;MQ=52;MQ0=0;QD=28.81;SB=-2251.45;TI=NM_032714,NM_022489,NM_001031714;GI=INF2,INF2,INF2;FC=Synonymous_P35P,Synonymous_P35P,Synonymous_P35P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,162:162:99:4668,337,0:52:99:1.000 chr14 105173873 . A C 22.48 LowVariantFreq;SB BaseQRankSum=-0.933;DP=58;Dels=0.28;FS=23.375;HRun=5;HaplotypeScore=176.7173;MQ=39;MQ0=1;MQRankSum=-2.397;QD=0.39;ReadPosRankSum=0.640;SB=-0.01;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_P423P,Synonymous_P423P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,7:42:52.45:52,0,846:39:22:0.179 chr14 105173879 . A C 126.08 SB BaseQRankSum=-1.962;DP=52;Dels=0.02;FS=66.327;HRun=5;HaplotypeScore=104.0782;MQ=36;MQ0=1;MQRankSum=-2.438;QD=2.42;ReadPosRankSum=-2.869;SB=-2.98;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_P425P,Synonymous_P425P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,14:51:99:156,0,703:36:99:0.292 chr14 105173885 . A C 83.63 SB BaseQRankSum=-2.353;DP=45;Dels=0.00;FS=66.306;HRun=5;HaplotypeScore=35.4474;MQ=37;MQ0=0;MQRankSum=-1.907;QD=1.86;ReadPosRankSum=-0.821;SB=-2.98;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_P427P,Synonymous_P427P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,12:45:99:114,0,772:37:84:0.286 chr14 105173911 . A G 3.20 LowGQX;LowVariantFreq;SB BaseQRankSum=-1.102;DP=29;Dels=0.07;FS=31.239;HRun=1;HaplotypeScore=67.0151;MQ=30;MQ0=0;MQRankSum=1.244;QD=0.11;ReadPosRankSum=-0.320;SB=-2.05;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Missense_E436G,Missense_E436G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,4:27:30.36:30,0,534:30:3:0.154 chr14 105173918 . T C 3.35 LowGQX;LowVariantFreq;SB BaseQRankSum=0.125;DP=29;Dels=0.07;FS=29.117;HRun=5;HaplotypeScore=41.4729;MQ=30;MQ0=0;MQRankSum=-0.544;QD=0.12;ReadPosRankSum=-0.794;SB=-2.04;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_P438P,Synonymous_P438P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,3:27:30.65:31,0,468:30:3:0.120 chr14 105173924 . T C 52.67 SB BaseQRankSum=-0.272;DP=26;Dels=0.00;FS=31.351;HRun=5;HaplotypeScore=24.7777;MQ=30;MQ0=0;MQRankSum=1.180;QD=2.03;ReadPosRankSum=-2.270;SB=-2.50;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_P440P,Synonymous_P440P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,7:26:82.66:83,0,347:30:53:0.280 chr14 105173930 . A C 12.69 SB BaseQRankSum=-0.645;DP=26;Dels=0.00;FS=27.482;HRun=5;HaplotypeScore=15.8419;MQ=30;MQ0=0;MQRankSum=0.713;QD=0.49;ReadPosRankSum=-0.510;SB=-2.05;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_P442P,Synonymous_P442P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,5:26:42.45:42,0,400:30:13:0.200 chr14 105173933 . A C 37.31 SB BaseQRankSum=-0.700;DP=25;Dels=0.00;FS=25.611;HRun=7;HaplotypeScore=14.6969;MQ=30;MQ0=0;MQRankSum=0.900;QD=1.49;ReadPosRankSum=-1.100;SB=0.11;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_P443P,Synonymous_P443P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,6:25:67.31:67,0,348:30:37:0.250 chr14 105174026 . T C 18.16 LowVariantFreq;SB BaseQRankSum=-1.945;DP=29;Dels=0.00;FS=10.447;HRun=2;HaplotypeScore=21.5670;MQ=32;MQ0=0;MQRankSum=-1.263;QD=0.63;ReadPosRankSum=-0.512;SB=-0.01;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_P474P,Synonymous_P474P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,4:29:48.09:48,0,585:32:18:0.148 chr14 105174077 . T C 7.32 LowGQX;LowVariantFreq;SB BaseQRankSum=-0.993;DP=49;Dels=0.00;FS=5.192;HRun=2;HaplotypeScore=24.5823;MQ=34;MQ0=0;MQRankSum=-2.103;QD=0.15;ReadPosRankSum=1.227;SB=-0.01;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_P491P,Synonymous_P491P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,7:49:36.43:36,0,975:34:7:0.146 chr14 105174110 . A C 4.37 LowGQX;LowVariantFreq;SB BaseQRankSum=-0.589;DP=52;Dels=0.00;FS=2.568;HRun=5;HaplotypeScore=20.9809;MQ=40;MQ0=0;MQRankSum=-0.205;QD=0.08;ReadPosRankSum=0.506;SB=-0.01;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_P502P,Synonymous_P502P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,7:52:32.39:32,0,1016:40:4:0.137 chr14 105177351 rs3840006 CA C 3943.18 PASS BaseQRankSum=0.759;DP=186;FS=1.151;HRun=1;HaplotypeScore=108.0859;MQ=55;MQ0=0;MQRankSum=-0.697;QD=21.20;ReadPosRankSum=-1.344;SB=-1830.18;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,99:186:99:3943,0,3171:55:99:0.547 chr14 105179194 rs10133301 T C 978.71 PASS BaseQRankSum=0.513;DP=58;Dels=0.00;FS=5.610;HRun=0;HaplotypeScore=15.4218;MQ=54;MQ0=0;MQRankSum=2.502;QD=16.87;ReadPosRankSum=2.234;SB=-377.01;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_D880D,Synonymous_D880D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,34:58:99:1009,0,479:54:99:0.586 chr14 105180565 rs4983535 T C 481.97 SB BaseQRankSum=1.382;DP=28;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.276;QD=17.21;ReadPosRankSum=-0.461;SB=-0.01;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_D1022D,Synonymous_D1022D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,15:28:99:512,0,385:60:99:0.536 chr14 105180706 rs1128840 A C 1599.97 PASS BaseQRankSum=0.952;DP=153;Dels=0.00;FS=2.191;HRun=2;HaplotypeScore=9.1797;MQ=52;MQ0=0;MQRankSum=-1.482;QD=10.46;ReadPosRankSum=1.603;SB=-873.43;TI=NM_022489,NM_001031714;GI=INF2,INF2;FC=Synonymous_P1069P,Synonymous_P1069P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,72:153:99:1630,0,1999:52:99:0.471 chr14 105239894 rs1130233 C T 1084.80 PASS BaseQRankSum=1.680;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=20.7157;MQ=52;MQ0=0;MQRankSum=1.323;QD=8.82;ReadPosRankSum=0.267;SB=-694.76;TI=NM_005163,NM_001014432,NM_001014431;GI=AKT1,AKT1,AKT1;FC=Synonymous_E242E,Synonymous_E242E,Synonymous_E242E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,52:123:99:1115,0,1630:52:99:0.426 chr14 105609335 rs10149229 A G 1824.99 PASS BaseQRankSum=0.393;DP=134;Dels=0.00;FS=5.483;HRun=0;HaplotypeScore=9.1137;MQ=57;MQ0=0;MQRankSum=-0.496;QD=13.62;ReadPosRankSum=1.430;SB=-966.14;TI=NM_002226,NM_145159;GI=JAG2,JAG2;FC=Synonymous_I1138I,Synonymous_I1100I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,73:134:99:1855,0,1441:57:99:0.545 chr14 105611282 rs2272591 A G 900.12 PASS BaseQRankSum=-0.435;DP=91;Dels=0.00;FS=1.839;HRun=1;HaplotypeScore=2.8833;MQ=54;MQ0=0;MQRankSum=0.307;QD=9.89;ReadPosRankSum=1.057;SB=-475.85;TI=NM_002226,NM_145159;GI=JAG2,JAG2;FC=Synonymous_A1023A,Synonymous_A985A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,41:91:99:930,0,1336:54:99:0.451 chr14 105615648 rs9972231 C T 1184.74 PASS BaseQRankSum=0.344;DP=112;Dels=0.00;FS=0.719;HRun=1;HaplotypeScore=2.6823;MQ=53;MQ0=0;MQRankSum=-0.361;QD=10.58;ReadPosRankSum=-0.862;SB=-773.60;TI=NM_002226,NM_145159;GI=JAG2,JAG2;FC=Missense_D538N,Missense_D500N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,53:112:99:1215,0,1334:53:99:0.473 chr14 106110057 rs11160859 G A 842.22 PASS DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=33.69;SB=-201.96 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,25:25:66.21:875,66,0:58:66:1.000 chr14 106110259 . A T 3.90 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.736;QD=1.30;ReadPosRankSum=-0.736;SB=-0.01 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:31.62:32,0,72:60:4:0.333 chr14 106110900 . G C 308.70 PASS BaseQRankSum=-0.241;DP=91;Dels=0.00;FS=3.842;HRun=2;HaplotypeScore=3.5489;MQ=48;MQ0=2;MQRankSum=-5.922;QD=3.39;ReadPosRankSum=0.585;SB=-111.84 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,22:91:99:339,0,1816:48:99:0.242 chr14 106110904 . T C 325.42 PASS BaseQRankSum=0.093;DP=91;Dels=0.00;FS=7.271;HRun=0;HaplotypeScore=2.6548;MQ=48;MQ0=2;MQRankSum=-5.873;QD=3.58;ReadPosRankSum=0.821;SB=-85.23 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,22:91:99:355,0,1817:48:99:0.242 chr14 106110966 rs11557955 C T 2039.23 PASS DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=2;QD=29.55;SB=-1234.90 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:2072,156,0:51:99:1.000 chr14 106173808 rs1130510 G A 2141.57 PASS BaseQRankSum=0.724;DP=155;Dels=0.00;FS=3.294;HRun=0;HaplotypeScore=8.2241;MQ=39;MQ0=16;MQRankSum=-5.101;QD=13.82;ReadPosRankSum=-3.477;SB=-1024.53 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,100:155:99:2172,0,1146:39:99:0.645 chr14 106174261 rs1407 C G 4099.21 PASS DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.6976;MQ=55;MQ0=0;QD=31.05;SB=-2100.02 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:132:99:4099,307,0:55:99:1.000 chr14 106321590 rs12365 C A 5698.58 PASS BaseQRankSum=1.678;DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8746;MQ=55;MQ0=0;MQRankSum=1.660;QD=29.53;ReadPosRankSum=-0.350;SB=-3178.85 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,192:193:99:5699,418,0:55:99:0.995 chr15 23052632 rs11263683 T C 3733.35 PASS DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=28.50;SB=-2259.56;TI=NM_144599,NM_001142275;GI=NIPA1,NIPA1;FC=Synonymous_T147T,Missense_Q88R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3733,268,0:51:99:1.000 chr15 23891467 . C A 11.01 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=11.01;SB=-0.01;TI=NM_019066;GI=MAGEL2;FC=Missense_A475S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:41,3,0:60:3:1.000 chr15 23891594 . C A 11.01 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=11.01;SB=-0.01;TI=NM_019066;GI=MAGEL2;FC=Missense_Q432H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:41,3,0:60:3:1.000 chr15 23931507 rs2192206 G A 2980.73 PASS BaseQRankSum=1.095;DP=244;Dels=0.00;FS=3.771;HRun=0;HaplotypeScore=12.4437;MQ=55;MQ0=0;MQRankSum=1.091;QD=12.22;ReadPosRankSum=-0.663;SB=-1423.24;TI=NM_002487;GI=NDN;FC=Synonymous_D286D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:131,111:244:99:3011,0,3706:55:99:0.459 chr15 24778937 rs28373415 G A 970.83 PASS BaseQRankSum=0.259;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6717;MQ=47;MQ0=1;MQRankSum=-4.649;QD=9.71;ReadPosRankSum=-1.907;SB=-460.13 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,42:100:99:1001,0,1493:47:99:0.420 chr15 24778961 rs56025966 G GA 616.82 PASS BaseQRankSum=6.374;DP=72;FS=3.759;HRun=0;HaplotypeScore=270.2147;MQ=49;MQ0=1;MQRankSum=-6.240;QD=8.57;ReadPosRankSum=1.484;SB=-221.79 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,21:70:99:656,0,2061:49:99:0.296 chr15 24778976 rs28498643 T G 742.22 PASS BaseQRankSum=-1.335;DP=89;Dels=0.00;FS=0.857;HRun=0;HaplotypeScore=8.8918;MQ=48;MQ0=2;MQRankSum=-4.907;QD=8.34;ReadPosRankSum=-1.915;SB=-334.44 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,32:89:99:772,0,1445:48:99:0.360 chr15 24778984 rs28499176 T C 490.75 PASS BaseQRankSum=-0.115;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.7861;MQ=49;MQ0=2;MQRankSum=-3.033;QD=4.54;ReadPosRankSum=0.249;SB=-212.99 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,26:108:99:521,0,2022:49:99:0.243 chr15 24779011 . A G 11.10 LowVariantFreq BaseQRankSum=-1.362;DP=117;Dels=0.02;FS=1.184;HRun=2;HaplotypeScore=5.6874;MQ=50;MQ0=1;MQRankSum=-1.768;QD=0.09;ReadPosRankSum=2.285;SB=-23.85 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,13:115:40.74:41,0,2824:50:11:0.113 chr15 24813702 rs11161114 G A 685.84 PASS BaseQRankSum=0.758;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6821;MQ=51;MQ0=0;MQRankSum=2.319;QD=9.53;ReadPosRankSum=1.470;SB=-385.94;TI=NR_026646;GI=PWRN1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,29:72:99:716,0,966:51:99:0.403 chr15 24815179 rs11369146 G GC 623.20 PASS BaseQRankSum=6.232;DP=57;FS=0.000;HRun=1;HaplotypeScore=296.7284;MQ=48;MQ0=0;MQRankSum=-5.125;QD=10.93;ReadPosRankSum=0.092;SB=-267.10;TI=NR_026646;GI=PWRN1;FC=Splicing;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,19:57:99:662,0,1275:48:99:0.339 chr15 24815181 rs61995200 T C 512.10 PASS BaseQRankSum=-0.156;DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=22.7225;MQ=48;MQ0=0;MQRankSum=-5.057;QD=8.98;ReadPosRankSum=-0.156;SB=-195.43;TI=NR_026646;GI=PWRN1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,22:57:99:542,0,999:48:99:0.386 chr15 24815209 rs3924638 C T 1006.73 PASS BaseQRankSum=1.658;DP=120;Dels=0.00;FS=6.081;HRun=1;HaplotypeScore=7.3731;MQ=47;MQ0=1;MQRankSum=-4.090;QD=8.39;ReadPosRankSum=1.680;SB=-487.84;TI=NR_026646;GI=PWRN1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,41:120:99:1037,0,2071:47:99:0.342 chr15 24815237 rs10719232 AT A 1984.87 PASS BaseQRankSum=6.919;DP=144;FS=15.830;HRun=1;HaplotypeScore=340.1760;MQ=47;MQ0=0;MQRankSum=-4.137;QD=13.78;ReadPosRankSum=0.069;SB=-734.65;TI=NR_026646;GI=PWRN1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,54:144:99:2024,0,3612:47:99:0.378 chr15 24819679 rs8036375 C T 1580.40 PASS BaseQRankSum=-0.055;DP=121;Dels=0.00;FS=3.526;HRun=0;HaplotypeScore=2.7880;MQ=52;MQ0=0;MQRankSum=1.167;QD=13.06;ReadPosRankSum=-0.481;SB=-873.58;TI=NR_026646;GI=PWRN1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,65:121:99:1610,0,1492:52:99:0.537 chr15 24819858 rs8036695 C G 3289.47 PASS BaseQRankSum=2.790;DP=256;Dels=0.00;FS=0.510;HRun=0;HaplotypeScore=28.5872;MQ=54;MQ0=1;MQRankSum=2.423;QD=12.85;ReadPosRankSum=0.310;SB=-1251.52;TI=NR_026646;GI=PWRN1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:132,124:256:99:3289,0,3354:54:99:0.484 chr15 24820045 . A T 1160.47 SB BaseQRankSum=3.029;DP=230;Dels=0.00;FS=14.984;HRun=2;HaplotypeScore=70.7789;MQ=51;MQ0=1;MQRankSum=-9.221;QD=5.05;ReadPosRankSum=1.311;SB=-0.01;TI=NR_026646;GI=PWRN1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:165,64:230:99:1190,0,5214:51:99:0.279 chr15 24820083 . A C 77.61 LowVariantFreq;SB BaseQRankSum=-1.179;DP=203;Dels=0.00;FS=34.439;HRun=1;HaplotypeScore=2.9731;MQ=46;MQ0=1;MQRankSum=-3.557;QD=0.38;ReadPosRankSum=0.130;SB=-0.01;TI=NR_026646;GI=PWRN1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:181,22:203:99:108,0,4980:46:78:0.108 chr15 24921771 rs1563102 G C 1549.91 PASS DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=30.39;SB=-883.59;TI=NM_018958;GI=C15orf2;FC=Missense_G253R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:99:1583,117,0:57:99:1.000 chr15 25319287 . G GT 183.42 LowVariantFreq;R8 BaseQRankSum=0.092;DP=124;FS=0.754;HRun=16;HaplotypeScore=784.6774;MQ=45;MQ0=0;MQRankSum=0.142;QD=1.48;ReadPosRankSum=-0.886;SB=-97.39;TI=NR_003325;GI=SNORD116-10;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,19:122:99:222,0,1128:45:99:0.188 chr15 25324141 rs4344720 C T 1432.81 PASS BaseQRankSum=2.194;DP=98;Dels=0.00;FS=13.171;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=-1.760;QD=14.62;ReadPosRankSum=-0.061;SB=-822.66 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,58:98:99:1463,0,1115:55:99:0.592 chr15 25332718 rs6576404 T C 4575.17 PASS BaseQRankSum=1.708;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5138;MQ=55;MQ0=0;MQRankSum=1.708;QD=31.77;ReadPosRankSum=-0.265;SB=-2316.95 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,143:144:99:4575,337,0:55:99:0.993 chr15 25360697 . GTCTC G,GTC 3419.32 LowVariantFreq;R8 BaseQRankSum=-0.040;DP=130;FS=0.000;HaplotypeScore=255.9555;MQ=54;MQ0=1;MQRankSum=-0.146;QD=26.30;ReadPosRankSum=-0.622;SB=-1091.81 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:44,8,0:129:99:3419,2663,2983,407,0,210:54:99:0.154 chr15 25364551 rs1043164 T C 1828.98 PASS BaseQRankSum=0.038;DP=123;Dels=0.00;FS=1.434;HRun=0;HaplotypeScore=6.4344;MQ=57;MQ0=0;MQRankSum=-0.302;QD=14.87;ReadPosRankSum=0.692;SB=-1069.40;TI=NR_023915;GI=IPW;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,66:123:99:1859,0,1629:57:99:0.537 chr15 25365030 rs13526 C A 718.94 PASS BaseQRankSum=0.130;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9945;MQ=59;MQ0=0;MQRankSum=-0.062;QD=11.23;ReadPosRankSum=-0.431;SB=-394.27;TI=NR_023915;GI=IPW;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,26:64:99:749,0,1219:59:99:0.406 chr15 25365169 rs16416 CACAG C 1782.66 PASS BaseQRankSum=0.038;DP=60;FS=2.212;HRun=0;HaplotypeScore=58.1312;MQ=57;MQ0=0;MQRankSum=0.857;QD=29.71;ReadPosRankSum=1.114;SB=-688.41;TI=NR_023915;GI=IPW;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,29:60:99:1822,0,1900:57:99:0.483 chr15 25925094 rs3816800 C G 1992.52 PASS BaseQRankSum=1.504;DP=156;Dels=0.00;FS=2.037;HRun=0;HaplotypeScore=6.1764;MQ=57;MQ0=0;MQRankSum=0.958;QD=12.77;ReadPosRankSum=-0.993;SB=-1024.34;TI=NM_024490;GI=ATP10A;FC=Missense_R1298S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,81:156:99:2023,0,1966:57:99:0.519 chr15 25926186 rs2076743 G A 1480.77 PASS BaseQRankSum=1.771;DP=109;Dels=0.00;FS=3.632;HRun=0;HaplotypeScore=5.4377;MQ=55;MQ0=0;MQRankSum=0.951;QD=13.59;ReadPosRankSum=-1.392;SB=-822.79;TI=NM_024490;GI=ATP10A;FC=Synonymous_A1176A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,62:109:99:1511,0,1284:55:99:0.569 chr15 25961964 rs10873607 A G 4706.90 PASS DP=171;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.3097;MQ=54;MQ0=0;QD=27.53;SB=-3252.37;TI=NM_024490;GI=ATP10A;FC=Synonymous_P563P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,171:171:99:4707,343,0:54:99:1.000 chr15 27182357 rs140682 T C 2365.69 PASS BaseQRankSum=0.482;DP=207;Dels=0.00;FS=1.088;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=2.117;QD=11.43;ReadPosRankSum=-0.571;SB=-1459.04;TI=NM_000810,NM_001165037;GI=GABRA5,GABRA5;FC=Synonymous_V202V,Synonymous_V202V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,97:207:99:2396,0,2716:56:99:0.469 chr15 27188353 rs140684 C A 681.76 PASS BaseQRankSum=0.539;DP=64;Dels=0.00;FS=0.987;HRun=1;HaplotypeScore=2.9659;MQ=53;MQ0=0;MQRankSum=-0.661;QD=10.65;ReadPosRankSum=0.040;SB=-288.71;TI=NM_000810,NM_001165037;GI=GABRA5,GABRA5;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,29:64:99:712,0,893:53:99:0.453 chr15 27188459 rs140685 C T 1394.70 PASS BaseQRankSum=-0.994;DP=126;Dels=0.00;FS=0.705;HRun=0;HaplotypeScore=1.8939;MQ=55;MQ0=0;MQRankSum=-0.779;QD=11.07;ReadPosRankSum=-1.155;SB=-670.85;TI=NM_000810,NM_001165037;GI=GABRA5,GABRA5;FC=Synonymous_A325A,Synonymous_A325A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,60:126:99:1425,0,1731:55:99:0.476 chr15 27772676 rs140679 C T 2162.52 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=26.70;SB=-1209.41;TI=NM_033223;GI=GABRG3;FC=Synonymous_T321T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2196,160,0:57:99:1.000 chr15 28090173 rs12592307 C T 738.91 PASS BaseQRankSum=-0.187;DP=53;Dels=0.00;FS=5.587;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=2.233;QD=13.94;ReadPosRankSum=2.553;SB=-343.05;TI=NM_000275;GI=OCA2;FC=Synonymous_S788S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,26:53:99:769,0,679:55:99:0.491 chr15 28211921 rs1800411 G A 1664.62 PASS BaseQRankSum=1.898;DP=136;Dels=0.00;FS=1.355;HRun=0;HaplotypeScore=3.6770;MQ=53;MQ0=0;MQRankSum=2.650;QD=12.24;ReadPosRankSum=1.396;SB=-1160.20;TI=NM_000275;GI=OCA2;FC=Synonymous_C517C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,74:136:99:1695,0,1470:53:99:0.544 chr15 28231793 rs10852218 T C 2873.93 PASS DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=29.33;SB=-1926.07;TI=NM_000275;GI=OCA2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:98:99:2907,211,0:53:99:1.000 chr15 28235773 rs1800404 C T 1096.12 PASS BaseQRankSum=0.902;DP=121;Dels=0.00;FS=0.694;HRun=0;HaplotypeScore=3.5215;MQ=53;MQ0=0;MQRankSum=1.131;QD=9.06;ReadPosRankSum=-0.008;SB=-783.95;TI=NM_000275;GI=OCA2;FC=Synonymous_A355A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,50:121:99:1126,0,1702:53:99:0.417 chr15 28260053 rs1800401 G A 926.25 PASS BaseQRankSum=0.935;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.574;QD=11.88;ReadPosRankSum=0.235;SB=-514.63;TI=NM_000275;GI=OCA2;FC=Missense_R305W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,38:78:99:956,0,974:55:99:0.487 chr15 28397812 rs7165158 A G 1388.54 PASS BaseQRankSum=-0.041;DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=53;MQ0=0;MQRankSum=0.026;QD=14.62;ReadPosRankSum=0.819;SB=-696.12;TI=NM_004667;GI=HERC2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,52:95:99:1419,0,1155:53:99:0.547 chr15 28413640 rs61754657 C T 1302.03 PASS BaseQRankSum=0.915;DP=143;Dels=0.00;FS=3.073;HRun=0;HaplotypeScore=4.5623;MQ=53;MQ0=0;MQRankSum=0.567;QD=9.11;ReadPosRankSum=-0.550;SB=-841.08;TI=NM_004667;GI=HERC2;FC=Missense_M3442I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,58:143:99:1332,0,2083:53:99:0.408 chr15 28414665 rs7494786;rs56627180 T C 2221.56 PASS BaseQRankSum=3.461;DP=156;Dels=0.00;FS=5.962;HRun=0;HaplotypeScore=5.3371;MQ=56;MQ0=1;MQRankSum=0.016;QD=14.24;ReadPosRankSum=-0.534;SB=-1122.13;TI=NM_004667;GI=HERC2;FC=Synonymous_S3398S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,86:156:99:2252,0,1771:56:99:0.551 chr15 28419566 . T C 287.35 LowVariantFreq BaseQRankSum=2.371;DP=149;Dels=0.00;FS=3.674;HRun=1;HaplotypeScore=0.0000;MQ=46;MQ0=32;MQRankSum=-0.104;QD=1.93;ReadPosRankSum=-2.463;SB=-84.19;TI=NM_004667;GI=HERC2;FC=Synonymous_R3344R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:132,17:149:99:317,0,2624:46:99:0.114 chr15 28419619 . C T 739.87 PASS BaseQRankSum=-1.228;DP=181;Dels=0.00;FS=4.483;HRun=0;HaplotypeScore=6.2566;MQ=50;MQ0=28;MQRankSum=-0.274;QD=4.09;ReadPosRankSum=-0.174;SB=-523.08;TI=NM_004667;GI=HERC2;FC=Missense_V3327M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:137,42:181:99:770,0,2738:50:99:0.235 chr15 28419695 . T C 666.51 PASS BaseQRankSum=0.724;DP=176;Dels=0.00;FS=1.510;HRun=0;HaplotypeScore=3.5489;MQ=47;MQ0=25;MQRankSum=0.910;QD=3.79;ReadPosRankSum=1.813;SB=-504.10;TI=NM_004667;GI=HERC2;FC=Synonymous_T3301T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,39:176:99:697,0,3009:47:99:0.223 chr15 28419746 . G A 511.10 LowVariantFreq BaseQRankSum=0.461;DP=137;Dels=0.00;FS=4.285;HRun=0;HaplotypeScore=2.6274;MQ=44;MQ0=30;MQRankSum=0.519;QD=3.73;ReadPosRankSum=-4.848;SB=-230.69;TI=NM_004667;GI=HERC2;FC=Synonymous_N3284N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,27:137:99:541,0,2255:44:99:0.197 chr15 28424100 rs9806328 C T 1601.90 PASS BaseQRankSum=0.723;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=49;MQ0=0;MQRankSum=-1.970;QD=12.51;ReadPosRankSum=-1.387;SB=-773.78;TI=NM_004667;GI=HERC2;FC=Synonymous_T3032T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,68:128:99:1632,0,1517:49:99:0.531 chr15 28424380 . ATTTT A 2442.29 PASS BaseQRankSum=0.780;DP=74;FS=10.990;HRun=7;HaplotypeScore=104.5964;MQ=55;MQ0=0;MQRankSum=-1.115;QD=33.00;ReadPosRankSum=-0.087;SB=-489.22;TI=NM_004667;GI=HERC2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,38:74:99:2481,0,2084:55:99:0.521 chr15 28443658 rs8041209;rs41426044 G T 389.96 PASS BaseQRankSum=-0.188;DP=58;Dels=0.00;FS=1.105;HRun=1;HaplotypeScore=2.6548;MQ=57;MQ0=0;MQRankSum=0.990;QD=6.72;ReadPosRankSum=-0.434;SB=-225.79;TI=NM_004667;GI=HERC2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,20:58:99:420,0,970:57:99:0.345 chr15 28446638 rs76296532 A G 1121.76 PASS BaseQRankSum=2.606;DP=118;Dels=0.00;FS=5.918;HRun=0;HaplotypeScore=6.8845;MQ=51;MQ0=0;MQRankSum=0.808;QD=9.51;ReadPosRankSum=-0.060;SB=-494.42;TI=NM_004667;GI=HERC2;FC=Synonymous_N2560N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,47:118:99:1152,0,1665:51:99:0.398 chr15 28447282 rs418638;rs74005645 C T 425.38 PASS BaseQRankSum=-0.503;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=22;MQ0=39;MQRankSum=-0.777;QD=5.60;ReadPosRankSum=2.088;SB=-106.67;TI=NM_004667;GI=HERC2;FC=Missense_V2532M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,19:76:99:455,0,489:22:99:0.250 chr15 28459046 . T C 3.73 LowGQX;LowVariantFreq;SB BaseQRankSum=0.599;DP=209;Dels=0.00;FS=1.022;HRun=1;HaplotypeScore=10.7607;MQ=55;MQ0=0;MQRankSum=-3.314;QD=0.02;ReadPosRankSum=-2.743;SB=-0.01;TI=NM_004667;GI=HERC2;FC=Missense_I2210V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:192,16:209:31.33:31,0,5188:55:4:0.077 chr15 28459092 . G A 89.78 LowVariantFreq BaseQRankSum=2.911;DP=197;Dels=0.00;FS=0.942;HRun=1;HaplotypeScore=16.2439;MQ=52;MQ0=4;MQRankSum=-4.061;QD=0.46;ReadPosRankSum=4.344;SB=-31.76;TI=NM_004667;GI=HERC2;FC=Synonymous_D2194D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:177,20:197:99:120,0,4973:52:90:0.102 chr15 28459095 . G A 95.78 LowVariantFreq BaseQRankSum=0.839;DP=198;Dels=0.00;FS=0.938;HRun=0;HaplotypeScore=18.2346;MQ=52;MQ0=4;MQRankSum=-3.938;QD=0.48;ReadPosRankSum=4.901;SB=-18.96;TI=NM_004667;GI=HERC2;FC=Synonymous_P2193P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:178,20:198:99:126,0,4889:52:96:0.101 chr15 28502279 rs11631797;rs76232485 A G 1768.21 PASS BaseQRankSum=1.479;DP=135;Dels=0.00;FS=7.955;HRun=0;HaplotypeScore=4.5484;MQ=57;MQ0=0;MQRankSum=1.002;QD=13.10;ReadPosRankSum=0.681;SB=-1088.13;TI=NM_004667;GI=HERC2;FC=Synonymous_G815G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,72:134:99:1798,0,1584:57:99:0.537 chr15 28511005 . G A 3158.85 PASS BaseQRankSum=-0.096;DP=256;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=23.5899;MQ=54;MQ0=0;MQRankSum=3.543;QD=12.34;ReadPosRankSum=-0.233;SB=-1925.54;TI=NM_004667;GI=HERC2;FC=Synonymous_L572L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:133,123:256:99:3189,0,3216:54:99:0.480 chr15 28517436 rs75181529 T C 1027.37 PASS BaseQRankSum=2.931;DP=192;Dels=0.00;FS=8.239;HRun=0;HaplotypeScore=13.0961;MQ=49;MQ0=0;MQRankSum=-5.594;QD=5.35;ReadPosRankSum=0.983;SB=-580.18;TI=NM_004667;GI=HERC2;FC=Synonymous_P336P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:134,57:192:99:1057,0,3495:49:99:0.298 chr15 28517539 rs80340439 G A 77.33 LowVariantFreq BaseQRankSum=-1.679;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4704;MQ=54;MQ0=0;MQRankSum=-3.520;QD=1.12;ReadPosRankSum=-3.605;SB=-48.60;TI=NM_004667;GI=HERC2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,10:69:99:107,0,1765:54:77:0.145 chr15 28519511 rs16950975 G A 3959.49 PASS BaseQRankSum=0.651;DP=301;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=17.0663;MQ=53;MQ0=0;MQRankSum=2.215;QD=13.15;ReadPosRankSum=-0.269;SB=-2592.46;TI=NM_004667;GI=HERC2;FC=Synonymous_D242D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:132,169:301:99:3959,0,2951:53:99:0.561 chr15 30654736 rs1042724 G A 21.14 LowGQ;SB BaseQRankSum=0.736;DP=254;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=3;MQ0=248;MQRankSum=-0.736;QD=0.08;ReadPosRankSum=0.736;SB=-0.01;TI=NM_139320,NM_148911;GI=CHRFAM7A,CHRFAM7A;FC=Synonymous_G333G,Synonymous_G242G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,188:254:24.42:51,0,24:3:21:0.740 chr15 30654889 rs286101 A G 5.06 LowGQX;LowGQ;SB;LowDP DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=8;MQ0=13;QD=0.36;SB=-0.01;TI=NM_139320,NM_148911;GI=CHRFAM7A,CHRFAM7A;FC=Synonymous_S282S,Synonymous_S191S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,14:14:3.01:33,3,0:8:3:1.000 chr15 31330280 rs2288242 A G 5617.03 PASS BaseQRankSum=-0.019;DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=53;MQ0=0;MQRankSum=1.788;QD=29.10;ReadPosRankSum=0.592;SB=-3400.27;TI=NM_002420;GI=TRPM1;FC=Synonymous_N780N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,191:193:99:5617,365,0:53:99:0.990 chr15 31342744 rs1035705 C T 2650.99 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=60;MQ0=0;QD=30.83;SB=-1066.72;TI=NM_002420;GI=TRPM1;FC=Synonymous_T413T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:86:99:2684,196,0:60:99:1.000 chr15 31362352 rs2241493 C T 612.37 PASS BaseQRankSum=-0.829;DP=41;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.9990;MQ=59;MQ0=0;MQRankSum=1.917;QD=14.94;ReadPosRankSum=0.014;SB=-273.59;TI=NM_002420;GI=TRPM1;FC=Missense_S32N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,22:41:99:642,0,508:59:99:0.550 chr15 31369123 rs4779816 A G 2349.52 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=27.97;SB=-1435.43;TI=NM_002420;GI=TRPM1;FC=Missense_M1T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2383,172,0:56:99:1.000 chr15 31453147 rs75638145 G A 1851.44 PASS BaseQRankSum=1.175;DP=183;Dels=0.00;FS=1.157;HRun=0;HaplotypeScore=2.8389;MQ=51;MQ0=0;MQRankSum=1.245;QD=10.12;ReadPosRankSum=0.183;SB=-1267.06 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,87:183:99:1881,0,2172:51:99:0.475 chr15 32450704 rs1042722 G A 1388.50 PASS BaseQRankSum=0.643;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=29;MQ0=16;MQRankSum=-0.656;QD=11.67;ReadPosRankSum=0.459;SB=-763.65;TI=NM_001190455,NM_000746;GI=CHRNA7,CHRNA7;FC=Synonymous_T259T,Synonymous_T230T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,75:119:99:1418,0,765:29:99:0.630 chr15 32455467 rs71651702 G A 2877.25 PASS BaseQRankSum=2.678;DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0414;MQ=41;MQ0=19;MQRankSum=3.374;QD=23.02;ReadPosRankSum=1.086;SB=-1441.86;TI=NM_001190455,NM_000746;GI=CHRNA7,CHRNA7;FC=Synonymous_S336S,Synonymous_S307S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:20,105:125:99:2910,223,0:41:99:0.840 chr15 32460419 rs1042724 C T 218.09 SB BaseQRankSum=1.244;DP=274;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=8;MQ0=227;MQRankSum=-3.389;QD=0.80;ReadPosRankSum=0.696;SB=-0.01;TI=NM_001190455,NM_000746;GI=CHRNA7,CHRNA7;FC=Synonymous_G452G,Synonymous_G423G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,205:274:99:248,0,248:8:99:0.751 chr15 32460485 rs2253967 C T 70.04 SB BaseQRankSum=-0.511;DP=286;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.1882;MQ=7;MQ0=249;MQRankSum=1.352;QD=0.24;ReadPosRankSum=0.913;SB=-0.01;TI=NM_001190455,NM_000746;GI=CHRNA7,CHRNA7;FC=Synonymous_N474N,Synonymous_N445N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:219,66:286:99:100,0,313:7:70:0.232 chr15 32460616 rs2229956 C T 23.05 SB BaseQRankSum=-0.465;DP=250;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=5;MQ0=231;MQRankSum=0.296;QD=0.09;ReadPosRankSum=-0.803;SB=-0.01;TI=NM_001190455,NM_000746;GI=CHRNA7,CHRNA7;FC=Missense_S518L,Missense_S489L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:187,63:250:53.02:53,0,133:5:23:0.252 chr15 33260973 . C T 1139.51 PASS BaseQRankSum=-0.078;DP=117;Dels=0.00;FS=0.711;HRun=1;HaplotypeScore=15.3935;MQ=44;MQ0=0;MQRankSum=0.737;QD=9.74;ReadPosRankSum=-0.133;SB=-788.96;TI=NM_001103184;GI=FMN1;FC=Missense_E754K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,53:117:99:1169,0,1369:44:99:0.457 chr15 33261109 . A G 7.61 LowGQX;SB;LowDP BaseQRankSum=-1.835;DP=15;Dels=0.20;FS=0.000;HRun=2;HaplotypeScore=41.8005;MQ=37;MQ0=0;MQRankSum=-0.289;QD=0.51;ReadPosRankSum=0.600;SB=-0.01;TI=NM_001103184;GI=FMN1;FC=Synonymous_P708P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,4:12:36.78:37,0,253:37:8:0.333 chr15 33261113 . A G 52.20 SB;LowDP BaseQRankSum=-0.849;DP=14;Dels=0.07;FS=6.990;HRun=1;HaplotypeScore=42.7601;MQ=37;MQ0=0;MQRankSum=-2.083;QD=3.73;ReadPosRankSum=0.077;SB=-0.01;TI=NM_001103184;GI=FMN1;FC=Missense_L707P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,4:13:82.20:82,0,216:37:52:0.308 chr15 33261121 . T G 137.92 LowDP BaseQRankSum=-0.421;DP=14;Dels=0.00;FS=10.964;HRun=5;HaplotypeScore=31.3704;MQ=40;MQ0=0;MQRankSum=-0.299;QD=9.85;ReadPosRankSum=-0.201;SB=-14.59;TI=NM_001103184;GI=FMN1;FC=Synonymous_P704P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,7:14:99:168,0,153:40:99:0.500 chr15 33261127 . T G 3.45 LowGQX;SB;LowDP BaseQRankSum=-0.182;DP=18;Dels=0.06;FS=10.792;HRun=5;HaplotypeScore=33.1809;MQ=43;MQ0=0;MQRankSum=-0.546;QD=0.19;ReadPosRankSum=-0.910;SB=-0.01;TI=NM_001103184;GI=FMN1;FC=Synonymous_P702P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,4:17:30.83:31,0,207:43:3:0.250 chr15 33261232 rs2930131 G A 274.61 PASS BaseQRankSum=-0.079;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.0217;MQ=55;MQ0=0;MQRankSum=-0.357;QD=8.58;ReadPosRankSum=-0.159;SB=-22.53;TI=NM_001103184;GI=FMN1;FC=Synonymous_P667P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,11:32:99:305,0,627:55:99:0.344 chr15 33357262 rs2306277 A G 2389.08 PASS BaseQRankSum=1.249;DP=217;Dels=0.00;FS=1.053;HRun=2;HaplotypeScore=10.7959;MQ=55;MQ0=0;MQRankSum=0.323;QD=11.01;ReadPosRankSum=0.086;SB=-1579.25;TI=NM_001103184;GI=FMN1;FC=Missense_L463P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,97:217:99:2419,0,3135:55:99:0.447 chr15 33359370 rs11072170 C T 327.61 PASS BaseQRankSum=0.759;DP=32;Dels=0.00;FS=1.702;HRun=0;HaplotypeScore=2.8833;MQ=59;MQ0=0;MQRankSum=1.927;QD=10.24;ReadPosRankSum=-0.487;SB=-132.17;TI=NM_001103184;GI=FMN1;FC=Missense_G239E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,12:32:99:358,0,634:59:99:0.375 chr15 33359574 rs11858145 C A 1434.94 PASS DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=29.28;SB=-840.68;TI=NM_001103184;GI=FMN1;FC=Missense_G171V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1468,105,0:54:99:1.000 chr15 33840414 rs1435100 A G 1010.07 PASS BaseQRankSum=1.269;DP=76;Dels=0.00;FS=3.160;HRun=2;HaplotypeScore=4.5646;MQ=53;MQ0=0;MQRankSum=1.416;QD=13.29;ReadPosRankSum=-0.622;SB=-563.69;TI=NM_001036;GI=RYR3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,42:76:99:1040,0,763:53:99:0.553 chr15 33872177 rs674155 C T 2052.86 PASS BaseQRankSum=-0.807;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0194;MQ=54;MQ0=0;MQRankSum=1.313;QD=11.66;ReadPosRankSum=1.221;SB=-1079.39;TI=NM_001036;GI=RYR3;FC=Unknown_423;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,80:176:99:2083,0,2226:54:99:0.457 chr15 33920662 rs35706688 T C 571.11 PASS BaseQRankSum=2.201;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.591;QD=9.68;ReadPosRankSum=0.744;SB=-354.65;TI=NM_001036;GI=RYR3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,25:59:99:601,0,791:57:99:0.424 chr15 33954652 rs4780144 C T 539.53 LowDP BaseQRankSum=1.519;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=57;MQ0=0;MQRankSum=1.519;QD=33.72;ReadPosRankSum=1.519;SB=-243.23;TI=NM_001036;GI=RYR3;FC=Missense_R1641C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,15:16:42.14:573,42,0:57:42:0.938 chr15 34015013 rs2293027 G A 1968.02 PASS BaseQRankSum=0.694;DP=153;Dels=0.00;FS=4.912;HRun=0;HaplotypeScore=5.4493;MQ=56;MQ0=0;MQRankSum=0.093;QD=12.86;ReadPosRankSum=-0.892;SB=-1341.96;TI=NM_001036;GI=RYR3;FC=Synonymous_G2239G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,83:153:99:1998,0,1764:56:99:0.542 chr15 34016274 rs6495228 G A 1747.90 PASS BaseQRankSum=-0.206;DP=140;Dels=0.00;FS=0.643;HRun=0;HaplotypeScore=7.9645;MQ=51;MQ0=0;MQRankSum=-0.623;QD=12.48;ReadPosRankSum=0.402;SB=-1152.51;TI=NM_001036;GI=RYR3;FC=Missense_G2270E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,79:140:99:1778,0,1377:51:99:0.568 chr15 34113536 rs2288614 A G 1546.11 PASS BaseQRankSum=-1.293;DP=111;Dels=0.00;FS=3.534;HRun=1;HaplotypeScore=8.0163;MQ=55;MQ0=0;MQRankSum=-1.098;QD=13.93;ReadPosRankSum=0.186;SB=-943.50;TI=NM_001036;GI=RYR3;FC=Synonymous_A3627A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,60:111:99:1576,0,1391:55:99:0.541 chr15 34115281 rs12914825 C T 759.59 PASS BaseQRankSum=1.684;DP=73;Dels=0.00;FS=1.994;HRun=0;HaplotypeScore=0.9997;MQ=57;MQ0=0;MQRankSum=1.884;QD=10.41;ReadPosRankSum=1.128;SB=-469.78;TI=NM_001036;GI=RYR3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,32:73:99:790,0,1134:57:99:0.438 chr15 34130697 rs75286462 G C 2235.54 PASS BaseQRankSum=0.222;DP=177;Dels=0.00;FS=1.889;HRun=0;HaplotypeScore=11.2113;MQ=56;MQ0=0;MQRankSum=-0.333;QD=12.63;ReadPosRankSum=-0.673;SB=-1366.20;TI=NM_001036;GI=RYR3;FC=Synonymous_V4172V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,89:177:99:2266,0,2042:56:99:0.503 chr15 34137079 . TAGA T 2721.30 PASS BaseQRankSum=0.060;DP=144;FS=4.150;HRun=0;HaplotypeScore=217.6990;MQ=55;MQ0=0;MQRankSum=-0.709;QD=18.90;ReadPosRankSum=0.139;SB=-1304.38;TI=NM_001036;GI=RYR3;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,56:144:99:2760,0,4523:55:99:0.389 chr15 34137200 rs41279228 T G 6210.33 PASS BaseQRankSum=-0.448;DP=224;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5445;MQ=51;MQ0=0;MQRankSum=-0.495;QD=27.72;ReadPosRankSum=1.206;SB=-3821.80;TI=NM_001036;GI=RYR3;FC=Synonymous_R4478R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,223:224:99:6210,420,0:51:99:0.996 chr15 34151901 rs79305633 C T 2556.25 PASS BaseQRankSum=1.329;DP=203;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.3358;MQ=54;MQ0=0;MQRankSum=0.657;QD=12.59;ReadPosRankSum=0.142;SB=-1583.42;TI=NM_001036;GI=RYR3;FC=Synonymous_F4756F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,97:203:99:2586,0,2591:54:99:0.478 chr15 34520687 . T C 1756.00 PASS BaseQRankSum=1.317;DP=136;Dels=0.00;FS=4.167;HRun=0;HaplotypeScore=2.7855;MQ=57;MQ0=0;MQRankSum=0.439;QD=12.91;ReadPosRankSum=-0.509;SB=-1183.97;TI=NM_016454;GI=TMEM85;FC=Missense_I138T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,74:136:99:1786,0,1558:57:99:0.544 chr15 34528948 rs4577050 G A 3599.73 PASS DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=53;MQ0=0;QD=26.66;SB=-2223.74;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Synonymous_L950L,Synonymous_L1001L,Synonymous_L986L,Synonymous_L942L,Synonymous_L992L,Synonymous_L942L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,135:135:99:3600,256,0:53:99:1.000 chr15 34551082 rs7164902 G A 1564.00 PASS BaseQRankSum=2.036;DP=136;Dels=0.00;FS=1.347;HRun=1;HaplotypeScore=2.7880;MQ=53;MQ0=0;MQRankSum=0.041;QD=11.50;ReadPosRankSum=-1.060;SB=-1045.57;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Synonymous_L108L,Synonymous_L159L,Synonymous_L144L,Synonymous_L100L,Synonymous_L150L,Synonymous_L100L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,66:136:99:1594,0,1721:53:99:0.485 chr15 35045057 rs3743123 G A 830.09 PASS BaseQRankSum=3.497;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2453;MQ=56;MQ0=0;MQRankSum=-0.071;QD=14.31;ReadPosRankSum=0.576;SB=-420.78;TI=NM_020660;GI=GJD2;FC=Synonymous_S196S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,34:58:99:860,0,572:56:99:0.586 chr15 35045312 rs651724 T A 884.51 PASS DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.53;SB=-522.99;TI=NM_020660;GI=GJD2;FC=Synonymous_T111T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,31:31:66.22:918,66,0:54:66:1.000 chr15 38614525 rs7182445 G A 1461.37 PASS BaseQRankSum=1.145;DP=146;Dels=0.00;FS=1.311;HRun=2;HaplotypeScore=2.7815;MQ=55;MQ0=0;MQRankSum=0.514;QD=10.01;ReadPosRankSum=-1.034;SB=-971.66;TI=NM_152594;GI=SPRED1;FC=Synonymous_K97K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,66:146:99:1491,0,1793:55:99:0.455 chr15 38631930 rs7180446 C A 582.59 PASS BaseQRankSum=0.352;DP=47;Dels=0.00;FS=4.824;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.608;QD=12.40;ReadPosRankSum=-0.416;SB=-275.90;TI=NM_152594;GI=SPRED1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,25:47:99:613,0,615:58:99:0.532 chr15 38643574 rs3751526 T C 488.47 PASS BaseQRankSum=0.676;DP=46;Dels=0.00;FS=2.583;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-0.875;QD=10.62;ReadPosRankSum=-0.875;SB=-319.33;TI=NM_152594;GI=SPRED1;FC=Synonymous_V348V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,20:46:99:518,0,764:58:99:0.435 chr15 39880277 rs35275624 G A 3725.81 PASS DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=54;MQ0=0;QD=30.54;SB=-2148.71;TI=NM_003246;GI=THBS1;FC=Synonymous_P443P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3726,274,0:54:99:1.000 chr15 39882178 rs2228262 A G 3349.88 PASS BaseQRankSum=1.027;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4050;MQ=54;MQ0=0;MQRankSum=-1.047;QD=27.68;ReadPosRankSum=0.254;SB=-1932.71;TI=NM_003246;GI=THBS1;FC=Missense_N700S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,119:121:99:3350,174,0:54:99:0.983 chr15 39885301 rs2228263 T C 5467.87 PASS DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2820;MQ=56;MQ0=0;QD=29.40;SB=-3549.54;TI=NM_003246;GI=THBS1;FC=Synonymous_D956D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,185:186:99:5468,397,0:56:99:1.000 chr15 40477831 rs1801376 G A 2506.21 PASS BaseQRankSum=0.563;DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9888;MQ=55;MQ0=0;MQRankSum=0.930;QD=26.66;ReadPosRankSum=-0.642;SB=-1630.72;TI=NM_001211;GI=BUB1B;FC=Missense_R349Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,92:94:99:2539,145,0:55:99:0.979 chr15 40488851 rs1047130 G A 1174.61 PASS BaseQRankSum=2.051;DP=127;Dels=0.00;FS=1.432;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=1.968;QD=9.25;ReadPosRankSum=3.219;SB=-815.08;TI=NM_001211;GI=BUB1B;FC=Synonymous_A388A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,53:127:99:1205,0,1857:52:99:0.417 chr15 42143145 . C CCA 1938.66 PASS BaseQRankSum=2.343;DP=103;FS=4.089;HRun=0;HaplotypeScore=112.1277;MQ=57;MQ0=0;MQRankSum=3.614;QD=18.82;ReadPosRankSum=-0.221;SB=-700.96;TI=NM_016642;GI=SPTBN5;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,47:103:99:1978,0,2224:57:99:0.461 chr15 42143533 rs1197665 T G 3141.60 PASS DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4346;MQ=53;MQ0=0;QD=28.30;SB=-1674.95;TI=NM_016642;GI=SPTBN5;FC=Missense_N3529T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,111:111:99:3175,232,0:53:99:1.000 chr15 42145936 rs1197660 G C 2169.76 PASS BaseQRankSum=1.744;DP=201;Dels=0.00;FS=12.196;HRun=2;HaplotypeScore=7.1334;MQ=54;MQ0=0;MQRankSum=1.550;QD=10.79;ReadPosRankSum=-0.159;SB=-1405.38;TI=NM_016642;GI=SPTBN5;FC=Missense_A3240G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,96:201:99:2200,0,2446:54:99:0.478 chr15 42149472 rs1456235 T C 1077.60 PASS BaseQRankSum=0.958;DP=70;Dels=0.00;FS=3.357;HRun=0;HaplotypeScore=7.1487;MQ=58;MQ0=0;MQRankSum=1.147;QD=15.39;ReadPosRankSum=-0.698;SB=-619.01;TI=NM_016642;GI=SPTBN5;FC=Missense_Q2827R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,39:70:99:1108,0,855:58:99:0.557 chr15 42149506 rs12442525 G C 853.51 PASS BaseQRankSum=-1.429;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=58;MQ0=0;MQRankSum=2.179;QD=14.97;ReadPosRankSum=0.327;SB=-396.83;TI=NM_016642;GI=SPTBN5;FC=Missense_Q2816E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,29:57:99:884,0,826:58:99:0.509 chr15 42149596 rs1197675 C G 1382.52 PASS BaseQRankSum=1.582;DP=104;Dels=0.00;FS=3.634;HRun=0;HaplotypeScore=2.8580;MQ=56;MQ0=0;MQRankSum=1.732;QD=13.29;ReadPosRankSum=0.684;SB=-768.05;TI=NM_016642;GI=SPTBN5;FC=Missense_G2786R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,49:104:99:1413,0,1441:56:99:0.471 chr15 42150888 rs890503 G A 2113.89 PASS BaseQRankSum=-0.782;DP=177;Dels=0.00;FS=0.557;HRun=0;HaplotypeScore=6.4425;MQ=55;MQ0=0;MQRankSum=1.706;QD=11.94;ReadPosRankSum=-0.436;SB=-1419.90;TI=NM_016642;GI=SPTBN5;FC=Missense_T2678I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,89:177:99:2144,0,1963:55:99:0.503 chr15 42159290 rs2290553 C T 1436.51 PASS BaseQRankSum=0.918;DP=114;Dels=0.00;FS=9.352;HRun=0;HaplotypeScore=11.4272;MQ=56;MQ0=0;MQRankSum=1.524;QD=12.60;ReadPosRankSum=0.873;SB=-830.89;TI=NM_016642;GI=SPTBN5;FC=Missense_R2081Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,57:114:99:1466,0,1449:56:99:0.500 chr15 42168400 rs2290559 C T 2636.83 PASS BaseQRankSum=0.260;DP=251;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8924;MQ=53;MQ0=0;MQRankSum=1.613;QD=10.51;ReadPosRankSum=-1.672;SB=-1680.17;TI=NM_016642;GI=SPTBN5;FC=Missense_R1310H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:137,111:251:99:2667,0,3239:53:99:0.448 chr15 42168850 . A G 128.94 LowVariantFreq;SB BaseQRankSum=-3.320;DP=108;Dels=0.00;FS=79.930;HRun=3;HaplotypeScore=101.8353;MQ=48;MQ0=0;MQRankSum=-2.446;QD=1.19;ReadPosRankSum=-1.951;SB=-0.01;TI=NM_016642;GI=SPTBN5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,16:108:99:159,0,2484:48:99:0.154 chr15 42168854 . C G 296.79 SB BaseQRankSum=-4.058;DP=104;Dels=0.00;FS=118.136;HRun=9;HaplotypeScore=104.9579;MQ=47;MQ0=0;MQRankSum=-3.109;QD=2.85;ReadPosRankSum=-2.798;SB=-0.01;TI=NM_016642;GI=SPTBN5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,26:104:99:327,0,2175:47:99:0.252 chr15 42168854 . C CG 735.36 R8 BaseQRankSum=1.704;DP=104;FS=4.012;HRun=9;HaplotypeScore=658.2445;MQ=47;MQ0=0;MQRankSum=-1.025;QD=7.07;ReadPosRankSum=-1.039;SB=-210.14;TI=NM_016642;GI=SPTBN5;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,22:103:99:774,0,1044:47:99:0.227 chr15 42169129 rs55757140 G A 2077.16 PASS BaseQRankSum=-1.017;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.6086;MQ=54;MQ0=0;MQRankSum=1.001;QD=11.23;ReadPosRankSum=1.119;SB=-1017.13;TI=NM_016642;GI=SPTBN5;FC=Synonymous_A1208A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,86:185:99:2107,0,2482:54:99:0.465 chr15 42170578 rs747779 G A 1998.08 PASS BaseQRankSum=1.527;DP=181;Dels=0.00;FS=4.402;HRun=0;HaplotypeScore=7.0430;MQ=52;MQ0=0;MQRankSum=1.080;QD=11.04;ReadPosRankSum=1.644;SB=-1046.12;TI=NM_016642;GI=SPTBN5;FC=Synonymous_H1109H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,83:181:99:2028,0,2404:52:99:0.459 chr15 42171462 rs12708402 C T 2986.59 PASS BaseQRankSum=4.343;DP=209;Dels=0.00;FS=2.586;HRun=0;HaplotypeScore=7.1487;MQ=56;MQ0=0;MQRankSum=1.707;QD=14.29;ReadPosRankSum=-1.398;SB=-1261.91;TI=NM_016642;GI=SPTBN5;FC=Missense_V1025I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,112:209:99:3017,0,2629:56:99:0.536 chr15 42171483 rs1197682 G A 2830.69 PASS BaseQRankSum=-1.644;DP=234;Dels=0.00;FS=3.146;HRun=0;HaplotypeScore=7.4692;MQ=56;MQ0=0;MQRankSum=0.847;QD=12.10;ReadPosRankSum=1.295;SB=-1018.28;TI=NM_016642;GI=SPTBN5;FC=Missense_H1018Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:126,108:234:99:2861,0,3350:56:99:0.462 chr15 42171537 rs1197683 A G 8557.35 PASS BaseQRankSum=1.677;DP=313;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=13.7690;MQ=58;MQ0=0;MQRankSum=-0.393;QD=27.34;ReadPosRankSum=0.172;SB=-5580.06;TI=NM_016642;GI=SPTBN5;FC=Missense_C1000R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,312:313:99:8557,614,0:58:99:0.997 chr15 42178122 rs2280016 T C 2528.02 PASS BaseQRankSum=3.527;DP=213;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4493;MQ=53;MQ0=0;MQRankSum=2.627;QD=11.87;ReadPosRankSum=-0.793;SB=-1485.04;TI=NM_016642;GI=SPTBN5;FC=Missense_D409G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,100:213:99:2558,0,2797:53:99:0.472 chr15 42178155 rs1210795 T C 5864.15 PASS DP=203;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2540;MQ=54;MQ0=0;QD=28.89;SB=-3498.41;TI=NM_016642;GI=SPTBN5;FC=Missense_H398R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,203:203:99:5864,424,0:54:99:1.000 chr15 43028780 . G A 482.76 PASS BaseQRankSum=0.431;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=58;MQ0=0;MQRankSum=0.431;QD=14.20;ReadPosRankSum=0.466;SB=-135.02;TI=NM_138477;GI=CDAN1;FC=Missense_R97C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,18:34:99:513,0,482:58:99:0.529 chr15 43739686 . GA G 21.41 LowVariantFreq;R8;SB BaseQRankSum=0.941;DP=58;FS=6.040;HRun=16;HaplotypeScore=319.3695;MQ=50;MQ0=1;MQRankSum=-0.714;QD=0.37;ReadPosRankSum=-1.086;SB=-8.10;TI=NM_001141979,NM_001141980,NM_005657;GI=TP53BP1,TP53BP1,TP53BP1;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,7:57:59.42:59,0,520:50:21:0.143 chr15 43900153 rs62018890 C T 2085.26 PASS BaseQRankSum=-0.161;DP=326;Dels=0.00;FS=0.545;HRun=1;HaplotypeScore=8.2321;MQ=27;MQ0=138;MQRankSum=0.363;QD=6.40;ReadPosRankSum=0.774;SB=-1248.63;TI=NM_153700;GI=STRC;FC=Synonymous_E1234E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:191,135:326:99:2115,0,1881:27:99:0.414 chr15 43925134 rs7169097;rs56265533;rs71460445 T A 479.65 PASS BaseQRankSum=1.555;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=30;MQ0=5;MQRankSum=0.290;QD=15.47;ReadPosRankSum=-0.290;SB=-33.44;TI=NM_172095,NM_054020;GI=CATSPER2,CATSPER2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,18:31:99:510,0,277:30:99:0.581 chr15 43925135 . T G 479.65 PASS BaseQRankSum=1.080;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=30;MQ0=5;MQRankSum=0.712;QD=15.47;ReadPosRankSum=-0.290;SB=-33.44;TI=NM_172095,NM_054020;GI=CATSPER2,CATSPER2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,18:31:99:510,0,279:30:99:0.581 chr15 43925140 rs7167634;rs56342416 A G 452.23 SB BaseQRankSum=0.915;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=30;MQ0=5;MQRankSum=0.915;QD=15.07;ReadPosRankSum=0.139;SB=-0.01;TI=NM_172095,NM_054020;GI=CATSPER2,CATSPER2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,17:30:99:482,0,251:30:99:0.567 chr15 43927623 . CA C 420.13 R8 BaseQRankSum=1.570;DP=79;FS=14.432;HRun=12;HaplotypeScore=277.1413;MQ=49;MQ0=0;MQRankSum=0.835;QD=5.32;ReadPosRankSum=-0.208;SB=-153.06;TI=NM_172095,NM_054020;GI=CATSPER2,CATSPER2;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,21:79:99:459,0,915:49:99:0.304 chr15 44900675 rs36014111 C T 527.78 PASS BaseQRankSum=0.775;DP=36;Dels=0.00;FS=1.608;HRun=0;HaplotypeScore=0.9998;MQ=57;MQ0=0;MQRankSum=1.313;QD=14.66;ReadPosRankSum=-0.585;SB=-97.23;TI=NM_001160227,NM_025137;GI=SPG11,SPG11;FC=Synonymous_L1140L,Synonymous_L1140L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,18:36:99:558,0,470:57:99:0.500 chr15 44943757 rs3759871 A G 3446.76 PASS DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3643;MQ=58;MQ0=0;QD=33.79;SB=-810.77;TI=NM_001160227,NM_025137;GI=SPG11,SPG11;FC=Missense_F463S,Missense_F463S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:102:99:3447,256,0:58:99:1.000 chr15 45392075 rs269868 G A 1676.91 PASS DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4129;MQ=58;MQ0=0;QD=30.49;SB=-754.11;TI=NM_014080;GI=DUOX2;FC=Missense_S1067L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1710,126,0:58:99:1.000 chr15 45400358 rs269860 C G 1933.45 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=26.49;SB=-1245.56;TI=NM_014080;GI=DUOX2;FC=Synonymous_G487G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:1966,138,0:54:99:1.000 chr15 45404066 rs2001616 G A 1085.19 PASS BaseQRankSum=1.559;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6643;MQ=58;MQ0=0;MQRankSum=-1.646;QD=27.13;ReadPosRankSum=0.000;SB=-666.25;TI=NM_014080;GI=DUOX2;FC=Missense_P138L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,39:40:81.27:1118,81,0:58:81:0.975 chr15 45408414 rs2576090 C G 3550.03 PASS DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.9954;MQ=52;MQ0=0;QD=26.10;SB=-2482.63;TI=NM_207581;GI=DUOXA2;FC=Missense_R100G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,136:136:99:3550,250,0:52:99:1.000 chr15 45408710 rs2554459 A G 1709.43 PASS DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=54;MQ0=0;QD=28.49;SB=-980.97;TI=NM_207581;GI=DUOXA2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:1742,126,0:54:99:1.000 chr15 45408933 rs2576092 T C 1231.22 PASS DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;QD=31.57;SB=-332.70;TI=NM_207581;GI=DUOXA2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,38:39:96.28:1264,96,0:58:96:1.000 chr15 45654327 rs1145086 A G 3277.11 PASS DP=116;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.7398;MQ=50;MQ0=0;QD=28.25;SB=-1672.20;TI=NM_001482;GI=GATM;FC=Synonymous_L418L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3277,235,0:50:99:1.000 chr15 45661678 rs1288775 T A 2913.03 PASS DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6381;MQ=54;MQ0=0;QD=25.55;SB=-2176.74;TI=NM_001482;GI=GATM;FC=Missense_Q110H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:114:99:2946,208,0:54:99:1.000 chr15 48053229 rs501916 C A 1285.89 PASS BaseQRankSum=2.092;DP=102;Dels=0.00;FS=2.868;HRun=2;HaplotypeScore=2.6548;MQ=56;MQ0=0;MQRankSum=0.974;QD=12.61;ReadPosRankSum=1.623;SB=-430.09;TI=NM_001198999,NM_024966,NM_020858,NM_153619,NM_153618,NM_153617,NM_153616;GI=SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D;FC=Synonymous_P92P,Synonymous_P92P,Synonymous_P92P,Synonymous_P92P,Synonymous_P92P,Synonymous_P92P,Synonymous_P92P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,50:102:99:1316,0,1504:56:99:0.490 chr15 48056958 rs3743281 C T 837.59 PASS BaseQRankSum=0.599;DP=61;Dels=0.00;FS=1.010;HRun=0;HaplotypeScore=2.6548;MQ=57;MQ0=0;MQRankSum=1.870;QD=13.73;ReadPosRankSum=1.220;SB=-439.30;TI=NM_001198999,NM_024966,NM_020858,NM_153619,NM_153618,NM_153617,NM_153616;GI=SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D;FC=Synonymous_A407A,Synonymous_A407A,Synonymous_A407A,Synonymous_A407A,Synonymous_A407A,Synonymous_A407A,Synonymous_A407A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,30:61:99:868,0,683:57:99:0.500 chr15 48058214 rs531596 C T 1576.28 PASS BaseQRankSum=-0.489;DP=155;Dels=0.00;FS=0.596;HRun=1;HaplotypeScore=1.7608;MQ=57;MQ0=0;MQRankSum=0.919;QD=10.17;ReadPosRankSum=2.504;SB=-1193.58;TI=NM_001198999,NM_020858,NM_153619,NM_153618,NM_153617,NM_153616;GI=SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,73:155:99:1606,0,2125:57:99:0.471 chr15 48063076 rs568215 T C 2183.38 PASS BaseQRankSum=2.003;DP=205;Dels=0.00;FS=1.086;HRun=2;HaplotypeScore=2.8720;MQ=56;MQ0=0;MQRankSum=1.387;QD=10.65;ReadPosRankSum=-3.460;SB=-1349.40;TI=NM_001198999,NM_020858,NM_153619,NM_153618,NM_153617,NM_153616;GI=SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D,SEMA6D;FC=Synonymous_P710P,Synonymous_P710P,Silent,Synonymous_P772P,Synonymous_P716P,Synonymous_P697P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:115,90:205:99:2213,0,3049:56:99:0.439 chr15 48539587 rs6493311 T C 2771.62 PASS BaseQRankSum=2.560;DP=197;Dels=0.00;FS=2.488;HRun=0;HaplotypeScore=8.9135;MQ=54;MQ0=0;MQRankSum=3.409;QD=14.07;ReadPosRankSum=0.391;SB=-1491.43;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Synonymous_Y538Y,Synonymous_Y538Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,105:197:99:2802,0,2310:54:99:0.536 chr15 48580713 rs1552311 T C 5248.66 PASS DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;QD=30.34;SB=-2933.76;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Unknown_958,Unknown_958;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,172:173:99:5249,382,0:56:99:1.000 chr15 48748913 rs140649 C T 1265.76 PASS BaseQRankSum=1.597;DP=114;Dels=0.00;FS=2.500;HRun=0;HaplotypeScore=2.8640;MQ=54;MQ0=0;MQRankSum=0.544;QD=11.10;ReadPosRankSum=-1.677;SB=-613.99;TI=NM_000138;GI=FBN1;FC=Synonymous_V1781V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,53:114:99:1296,0,1351:54:99:0.469 chr15 48797307 rs25458 A G 761.23 PASS BaseQRankSum=0.885;DP=81;Dels=0.00;FS=1.834;HRun=0;HaplotypeScore=0.8667;MQ=49;MQ0=0;MQRankSum=0.512;QD=9.40;ReadPosRankSum=-2.005;SB=-516.36;TI=NM_000138;GI=FBN1;FC=Synonymous_N625N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,34:81:99:791,0,1062:49:99:0.420 chr15 48807637 rs4775765 C T 3203.15 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0359;MQ=52;MQ0=0;QD=28.35;SB=-1788.76;TI=NM_000138;GI=FBN1;FC=Missense_C472Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3236,232,0:52:99:1.000 chr15 49083577 rs58156069 C T 723.05 PASS BaseQRankSum=0.912;DP=67;Dels=0.00;FS=0.929;HRun=0;HaplotypeScore=3.7878;MQ=53;MQ0=0;MQRankSum=1.799;QD=10.79;ReadPosRankSum=1.233;SB=-437.77;TI=NM_001194998,NM_014985;GI=CEP152,CEP152;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,31:67:99:753,0,783:53:99:0.470 chr15 49088198 rs77732888 G A 689.65 PASS BaseQRankSum=2.288;DP=53;Dels=0.00;FS=5.706;HRun=1;HaplotypeScore=2.7829;MQ=57;MQ0=0;MQRankSum=0.583;QD=13.01;ReadPosRankSum=-0.960;SB=-497.44;TI=NM_001194998,NM_014985;GI=CEP152,CEP152;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,30:53:99:720,0,640:57:99:0.566 chr15 50901929 rs35281039 TA T 184.08 R8 BaseQRankSum=2.410;DP=60;FS=1.121;HRun=13;HaplotypeScore=100.1374;MQ=58;MQ0=0;MQRankSum=0.635;QD=3.07;ReadPosRankSum=0.200;SB=-71.87;TI=NM_017672;GI=TRPM7;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,14:60:99:223,0,829:58:99:0.264 chr15 51217361 rs2306331 T C 1367.23 PASS BaseQRankSum=1.462;DP=98;Dels=0.00;FS=4.137;HRun=4;HaplotypeScore=1.9981;MQ=54;MQ0=0;MQRankSum=0.158;QD=13.95;ReadPosRankSum=2.348;SB=-728.52;TI=NM_007347;GI=AP4E1;FC=Missense_C163R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,57:98:99:1397,0,1061:54:99:0.582 chr15 51294832 rs3825798 G A 1308.69 PASS BaseQRankSum=1.489;DP=110;Dels=0.00;FS=3.505;HRun=1;HaplotypeScore=7.3212;MQ=52;MQ0=0;MQRankSum=0.616;QD=11.90;ReadPosRankSum=0.373;SB=-724.25;TI=NM_007347;GI=AP4E1;FC=Synonymous_Q1129Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,52:110:99:1339,0,1515:52:99:0.477 chr15 51507968 rs700519 G A 1537.50 PASS BaseQRankSum=3.434;DP=143;Dels=0.00;FS=0.634;HRun=0;HaplotypeScore=1.9856;MQ=55;MQ0=0;MQRankSum=1.798;QD=10.75;ReadPosRankSum=-0.836;SB=-907.39;TI=NM_031226,NM_000103;GI=CYP19A1,CYP19A1;FC=Missense_R264C,Missense_R264C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,66:143:99:1567,0,1671:55:99:0.465 chr15 51514572 rs28757184 G A 859.88 PASS BaseQRankSum=0.790;DP=75;Dels=0.00;FS=0.900;HRun=0;HaplotypeScore=6.2312;MQ=55;MQ0=0;MQRankSum=0.536;QD=11.47;ReadPosRankSum=0.090;SB=-550.53;TI=NM_031226,NM_000103;GI=CYP19A1,CYP19A1;FC=Missense_T201M,Missense_T201M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,39:75:99:890,0,911:55:99:0.520 chr15 51529112 rs700518 T C 1262.94 PASS BaseQRankSum=1.110;DP=109;Dels=0.00;FS=5.971;HRun=0;HaplotypeScore=2.6548;MQ=52;MQ0=0;MQRankSum=0.895;QD=11.59;ReadPosRankSum=1.159;SB=-691.81;TI=NM_031226,NM_000103;GI=CYP19A1,CYP19A1;FC=Synonymous_V80V,Synonymous_V80V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,52:109:99:1293,0,1304:52:99:0.481 chr15 52611451 rs2290332 A G 677.55 PASS BaseQRankSum=1.215;DP=63;Dels=0.00;FS=6.683;HRun=0;HaplotypeScore=3.7876;MQ=55;MQ0=0;MQRankSum=1.090;QD=10.75;ReadPosRankSum=-0.201;SB=-348.40;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Synonymous_D1628D,Synonymous_D1655D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,27:63:99:708,0,852:55:99:0.429 chr15 52667552 rs2414145 G A 2791.41 PASS DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=54;MQ0=0;QD=25.61;SB=-1803.49;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Synonymous_I842I,Synonymous_I842I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:109:99:2824,199,0:54:99:1.000 chr15 52689526 rs2924130 T C 4356.65 PASS DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=50;MQ0=0;QD=25.33;SB=-3289.26;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Synonymous_T397T,Synonymous_T397T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:172:99:4357,304,0:50:99:1.000 chr15 52689631 rs1724577 T G 831.60 PASS DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=30.80;SB=-355.39;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Missense_E362D,Missense_E362D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,27:27:63.21:865,63,0:54:63:1.000 chr15 53815527 . A AAG,AAGAG 1980.19 R8 BaseQRankSum=-0.159;DP=64;FS=0.000;HaplotypeScore=65.4800;MQ=58;MQ0=0;MQRankSum=-0.205;QD=30.94;ReadPosRankSum=1.843;SB=-632.26;TI=NM_182758;GI=WDR72;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:24,11,28:64:99:2058,1088,1079,332,0,414:58:99:0.619 chr15 53907948 rs17730281 G A 1376.23 PASS BaseQRankSum=2.908;DP=99;Dels=0.00;FS=2.913;HRun=1;HaplotypeScore=2.7880;MQ=59;MQ0=0;MQRankSum=-0.172;QD=13.90;ReadPosRankSum=-0.214;SB=-395.55;TI=NM_182758;GI=WDR72;FC=Missense_L819F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,46:99:99:1406,0,1780:59:99:0.465 chr15 53994493 rs6416452 A G 2602.65 PASS BaseQRankSum=2.112;DP=195;Dels=0.00;FS=2.485;HRun=2;HaplotypeScore=3.8928;MQ=55;MQ0=0;MQRankSum=0.029;QD=13.35;ReadPosRankSum=-1.017;SB=-1510.12;TI=NM_182758;GI=WDR72;FC=Synonymous_Y469Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,94:195:99:2633,0,2624:55:99:0.482 chr15 54003091 rs551225 G A 2346.35 PASS BaseQRankSum=0.410;DP=177;Dels=0.00;FS=7.759;HRun=1;HaplotypeScore=6.2586;MQ=51;MQ0=0;MQRankSum=0.274;QD=13.26;ReadPosRankSum=0.164;SB=-1605.07;TI=NM_182758;GI=WDR72;FC=Missense_P306L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,97:177:99:2376,0,2071:51:99:0.551 chr15 54008795 rs690337 T C 882.20 PASS DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=51;MQ0=0;QD=29.41;SB=-396.44;TI=NM_182758;GI=WDR72;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,30:30:66.22:915,66,0:51:66:1.000 chr15 54008845 rs690346 T C 3473.24 PASS DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=46;MQ0=0;QD=28.70;SB=-1625.48;TI=NM_182758;GI=WDR72;FC=Missense_M100V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3473,253,0:46:99:1.000 chr15 54008889 rs34828731 GA G 1139.46 PASS BaseQRankSum=1.137;DP=127;FS=0.000;HRun=2;HaplotypeScore=575.6370;MQ=48;MQ0=0;MQRankSum=-3.243;QD=8.97;ReadPosRankSum=1.023;SB=-394.78;TI=NM_182758;GI=WDR72;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,36:127:99:1178,0,3046:48:99:0.310 chr15 55727162 . G A 1997.70 PASS BaseQRankSum=1.700;DP=191;Dels=0.00;FS=1.256;HRun=0;HaplotypeScore=5.4638;MQ=54;MQ0=0;MQRankSum=1.471;QD=10.46;ReadPosRankSum=-1.612;SB=-812.50;TI=NM_001033560,NM_001033559,NM_130810;GI=DYX1C1,DYX1C1,DYX1C1;FC=Missense_R330W,Missense_R330W,Missense_R330W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,78:191:99:2028,0,2966:54:99:0.408 chr15 55759193 rs600753 T C 2459.07 PASS DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=58;MQ0=0;QD=31.94;SB=-1115.71;TI=NM_001033560,NM_001033559,NM_130810;GI=DYX1C1,DYX1C1,DYX1C1;FC=Missense_E191G,Missense_E191G,Missense_E191G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2492,184,0:58:99:1.000 chr15 58000981 rs1062707 C T 827.45 PASS BaseQRankSum=-0.360;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=57;MQ0=0;MQRankSum=-0.914;QD=10.89;ReadPosRankSum=-0.016;SB=-485.56;TI=NM_001018091,NM_001018090,NR_027390,NM_001018102,NM_015532;GI=GCOM1,GCOM1,GRINL1A,GRINL1A,GRINL1A;FC=Silent,Silent,Silent,Silent,Synonymous_A61A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,34:76:99:857,0,1074:57:99:0.447 chr15 58834741 rs690 G T 3372.13 PASS DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2446;MQ=50;MQ0=0;QD=26.98;SB=-2287.58;TI=NM_000236;GI=LIPC;FC=Synonymous_V155V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3372,241,0:50:99:1.000 chr15 58837957 rs6082 A G 1329.28 PASS BaseQRankSum=0.053;DP=87;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=11.8139;MQ=54;MQ0=0;MQRankSum=1.090;QD=15.28;ReadPosRankSum=1.890;SB=-595.58;TI=NM_000236;GI=LIPC;FC=Synonymous_G197G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,51:87:99:1359,0,803:54:99:0.593 chr15 58838010 rs6083 A G 3322.69 PASS DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.01;SB=-2137.84;TI=NM_000236;GI=LIPC;FC=Missense_N215S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:3323,238,0:53:99:1.000 chr15 58853079 rs3829462 C A 1641.89 PASS DP=61;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=48;MQ0=0;QD=26.92;SB=-1036.33;TI=NM_000236;GI=LIPC;FC=Missense_F356L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1675,123,0:48:99:1.000 chr15 58853109 rs3829461 A G 2222.80 PASS DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9930;MQ=48;MQ0=0;QD=28.50;SB=-1499.66;TI=NM_000236;GI=LIPC;FC=Synonymous_T366T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2256,169,0:48:99:1.000 chr15 59009930 . T TA 122.58 R8 BaseQRankSum=-1.321;DP=34;FS=0.000;HRun=10;HaplotypeScore=43.1353;MQ=58;MQ0=0;MQRankSum=0.508;QD=3.61;ReadPosRankSum=0.955;SB=-69.40;TI=NM_001110;GI=ADAM10;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,9:34:99:162,0,514:58:99:0.290 chr15 59548475 rs4508371 C T 2367.69 PASS DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=25.74;SB=-1794.19;TI=NM_004998;GI=MYO1E;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2401,169,0:51:99:1.000 chr15 60789798 rs11071539 G T 1527.73 PASS DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=33.21;SB=-593.83;TI=NM_134262,NM_134260,NM_002943,NM_134261;GI=RORA,RORA,RORA,RORA;FC=Synonymous_T421T,Synonymous_T509T,Synonymous_T501T,Synonymous_T476T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,46:46:99:1561,114,0:57:99:1.000 chr15 63351840 rs1071646 C A 1547.28 PASS DP=49;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.58;SB=-510.54;TI=NM_000366,NM_001018005,NM_001018004,NM_001018020,NM_001018006,NM_001018007,NM_001018008;GI=TPM1,TPM1,TPM1,TPM1,TPM1,TPM1,TPM1;FC=Synonymous_A151A,Synonymous_A151A,Synonymous_A151A,Synonymous_A151A,Synonymous_A151A,Synonymous_A151A,Synonymous_A115A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1580,114,0:56:99:1.000 chr15 63569902 . C T 1653.29 PASS DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7342;MQ=55;MQ0=0;QD=29.01;SB=-840.13;TI=NM_031301,NM_001145646;GI=APH1B,APH1B;FC=Missense_T27I,Missense_T27I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:57:99:1686,126,0:55:99:1.000 chr15 63597848 . G A 1642.50 PASS BaseQRankSum=2.717;DP=178;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=4.7835;MQ=56;MQ0=0;MQRankSum=1.894;QD=9.23;ReadPosRankSum=0.573;SB=-1002.44;TI=NM_031301,NM_001145646;GI=APH1B,APH1B;FC=Synonymous_A214A,Synonymous_A173A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,68:178:99:1672,0,2899:56:99:0.382 chr15 65108504 rs17802279 A T 1677.23 PASS BaseQRankSum=1.901;DP=135;Dels=0.00;FS=3.134;HRun=2;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=1.073;QD=12.42;ReadPosRankSum=0.148;SB=-1083.60;TI=NM_025049;GI=PIF1;FC=Missense_I640N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,71:135:99:1707,0,1423:53:99:0.526 chr15 65116328 rs12899195 A G 717.11 PASS DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=35.86;SB=-119.33;TI=NM_025049;GI=PIF1;FC=Synonymous_F69F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,20:20:57.18:750,57,0:57:57:1.000 chr15 65312614 . CA C 53.72 R8 BaseQRankSum=0.129;DP=39;FS=1.614;HRun=14;HaplotypeScore=163.3646;MQ=51;MQ0=0;MQRankSum=2.048;QD=1.38;ReadPosRankSum=2.712;SB=-36.16;TI=NM_139242;GI=MTFMT;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,8:39:92.75:93,0,534:51:54:0.216 chr15 65321766 . C G 449.94 PASS BaseQRankSum=-1.265;DP=41;Dels=0.00;FS=1.356;HRun=1;HaplotypeScore=1.8938;MQ=55;MQ0=0;MQRankSum=-0.743;QD=10.97;ReadPosRankSum=0.743;SB=-156.97;TI=NM_139242;GI=MTFMT;FC=Synonymous_A62A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,21:41:99:480,0,487:55:99:0.512 chr15 65369395 rs2919358 C T 989.46 PASS BaseQRankSum=0.551;DP=83;Dels=0.00;FS=4.644;HRun=0;HaplotypeScore=6.4756;MQ=52;MQ0=0;MQRankSum=0.342;QD=11.92;ReadPosRankSum=-1.217;SB=-584.19;TI=NM_001101362;GI=KBTBD13;FC=Missense_A81V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,43:83:99:1019,0,1008:52:99:0.518 chr15 65369531 rs2946642 G T 767.73 PASS BaseQRankSum=-0.569;DP=57;Dels=0.00;FS=5.752;HRun=0;HaplotypeScore=4.5189;MQ=56;MQ0=0;MQRankSum=1.979;QD=13.47;ReadPosRankSum=0.793;SB=-450.00;TI=NM_001101362;GI=KBTBD13;FC=Synonymous_A126A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,31:57:99:798,0,666:56:99:0.544 chr15 65369951 rs2919359 A G 2544.39 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7502;MQ=54;MQ0=0;QD=30.29;SB=-1460.08;TI=NM_001101362;GI=KBTBD13;FC=Synonymous_E266E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:84:99:2577,190,0:54:99:1.000 chr15 65370353 rs2919360 T C 11050.49 PASS BaseQRankSum=-0.447;DP=398;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.9354;MQ=55;MQ0=0;MQRankSum=0.324;QD=27.77;ReadPosRankSum=-1.211;SB=-7353.32;TI=NM_001101362;GI=KBTBD13;FC=Synonymous_G400G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,396:398:99:11050,762,0:55:99:0.995 chr15 65489128 rs938952 C T 1676.44 PASS DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=32.24;SB=-846.15;TI=NM_003613;GI=CILP;FC=Missense_G1166S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:99:1709,129,0:54:99:1.000 chr15 65489688 rs2679117 T C 2653.75 PASS DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8936;MQ=53;MQ0=0;QD=28.23;SB=-1401.80;TI=NM_003613;GI=CILP;FC=Missense_Q979R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2687,196,0:53:99:1.000 chr15 65490901 rs2679118 T C 1150.72 PASS DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=58;MQ0=0;QD=31.96;SB=-679.54;TI=NM_003613;GI=CILP;FC=Missense_K575E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,36:36:87.29:1184,87,0:58:87:1.000 chr15 65494212 rs2073711 A G 6052.93 PASS BaseQRankSum=-0.121;DP=213;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7873;MQ=54;MQ0=0;MQRankSum=1.424;QD=28.42;ReadPosRankSum=-0.421;SB=-2845.37;TI=NM_003613;GI=CILP;FC=Missense_I395T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,211:213:99:6053,398,0:54:99:0.991 chr15 65916527 rs3743171 A T 4.59 LowGQX;LowDP BaseQRankSum=1.380;DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=-1.380;QD=0.77;ReadPosRankSum=0.000;SB=-30.98;TI=NM_004727;GI=SLC24A1;FC=Missense_T37S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,2:6:32.73:33,0,113:53:5:0.333 chr15 65916576 . C T 4.59 LowGQX;LowDP BaseQRankSum=0.720;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=-1.380;QD=0.77;ReadPosRankSum=-1.380;SB=-30.98;TI=NM_004727;GI=SLC24A1;FC=Missense_A53V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,2:6:32.73:33,0,110:53:5:0.333 chr15 66257236 rs3840018 C CA 1215.17 PASS BaseQRankSum=0.679;DP=73;FS=0.000;HRun=1;HaplotypeScore=56.3951;MQ=57;MQ0=0;MQRankSum=0.491;QD=16.65;ReadPosRankSum=0.182;SB=-427.02;TI=NM_032445;GI=MEGF11;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,34:73:99:1254,0,1392:57:99:0.472 chr15 66257408 rs333550 T C 3006.76 PASS BaseQRankSum=1.701;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=54;MQ0=0;MQRankSum=1.670;QD=26.85;ReadPosRankSum=0.835;SB=-2020.67;TI=NM_032445;GI=MEGF11;FC=Missense_H317R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,111:112:99:3040,217,0:54:99:0.991 chr15 66274690 rs551474 T C 1766.76 PASS DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4786;MQ=57;MQ0=0;QD=29.45;SB=-1070.54;TI=NM_032445;GI=MEGF11;FC=Synonymous_A177A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:60:99:1800,132,0:57:99:1.000 chr15 67457335 rs1065080 A G 1521.68 PASS BaseQRankSum=-0.472;DP=128;Dels=0.00;FS=3.257;HRun=0;HaplotypeScore=11.1241;MQ=52;MQ0=0;MQRankSum=0.699;QD=11.89;ReadPosRankSum=-4.538;SB=-1141.27;TI=NM_005902,NM_001145102,NM_001145103;GI=SMAD3,SMAD3,SMAD3;FC=Synonymous_L103L,Silent,Synonymous_L59L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,69:128:99:1552,0,1271:52:99:0.543 chr15 68504148 . G A 1101.81 PASS BaseQRankSum=0.416;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6203;MQ=52;MQ0=0;MQRankSum=2.307;QD=10.39;ReadPosRankSum=0.048;SB=-662.64;TI=NM_017882;GI=CLN6;FC=Synonymous_I117I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,48:106:99:1132,0,1353:52:99:0.453 chr15 68603625 rs898591 C T 2795.83 PASS DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=56;MQ0=0;QD=29.12;SB=-1423.17;TI=NM_001004439;GI=ITGA11;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,96:96:99:2829,205,0:56:99:1.000 chr15 68605169 rs4777035 G A 2969.55 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;QD=26.28;SB=-1923.70;TI=NM_001004439;GI=ITGA11;FC=Missense_P972L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:113:99:3003,217,0:52:99:1.000 chr15 68613778 rs3736494 G T 1336.03 PASS BaseQRankSum=3.433;DP=101;Dels=0.00;FS=2.622;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=0.494;QD=13.23;ReadPosRankSum=0.624;SB=-827.81;TI=NM_001004439;GI=ITGA11;FC=Synonymous_R796R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,55:101:99:1366,0,1064:51:99:0.545 chr15 68613787 rs3736493 A G 1317.19 PASS BaseQRankSum=2.952;DP=106;Dels=0.00;FS=2.521;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;MQRankSum=0.826;QD=12.43;ReadPosRankSum=1.199;SB=-881.93;TI=NM_001004439;GI=ITGA11;FC=Synonymous_L793L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,56:106:99:1347,0,1179:50:99:0.528 chr15 68624396 rs7168069 A C 1581.67 PASS BaseQRankSum=1.183;DP=119;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2747;MQ=56;MQ0=0;MQRankSum=2.012;QD=13.29;ReadPosRankSum=0.263;SB=-834.41;TI=NM_001004439;GI=ITGA11;FC=Missense_L524R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,61:119:99:1612,0,1436:56:99:0.513 chr15 68628143 rs2306023 C T 869.54 PASS BaseQRankSum=0.273;DP=84;Dels=0.00;FS=5.885;HRun=0;HaplotypeScore=2.9908;MQ=53;MQ0=0;MQRankSum=1.624;QD=10.35;ReadPosRankSum=0.738;SB=-635.69;TI=NM_001004439;GI=ITGA11;FC=Synonymous_R439R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,42:84:99:900,0,961:53:99:0.500 chr15 68649587 rs12907890 G A 971.01 PASS BaseQRankSum=-0.341;DP=77;Dels=0.00;FS=0.872;HRun=0;HaplotypeScore=0.9947;MQ=51;MQ0=0;MQRankSum=0.810;QD=12.61;ReadPosRankSum=-0.728;SB=-497.74;TI=NM_001004439;GI=ITGA11;FC=Synonymous_N217N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,38:77:99:1001,0,961:51:99:0.494 chr15 72105928 rs11351249 AC A 5504.60 PASS DP=146;FS=0.000;HRun=5;HaplotypeScore=122.9776;MQ=57;MQ0=0;QD=37.70;SB=-2180.76;TI=NM_016346,NM_014249;GI=NR2E3,NR2E3;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,144:146:99:5505,433,0:57:99:0.993 chr15 72637795 rs4777502 T C 3615.06 PASS DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;QD=26.58;SB=-2196.14;TI=NM_000520;GI=HEXA;FC=Synonymous_E506E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,136:136:99:3615,253,0:56:99:1.000 chr15 72638892 rs1800431 T C 4508.98 PASS BaseQRankSum=1.688;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8964;MQ=55;MQ0=0;MQRankSum=1.601;QD=28.54;ReadPosRankSum=-0.811;SB=-2927.17;TI=NM_000520;GI=HEXA;FC=Missense_I436V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,157:158:99:4509,331,0:55:99:0.994 chr15 72978552 rs56368716 C T 1437.73 PASS BaseQRankSum=-0.956;DP=107;Dels=0.00;FS=2.246;HRun=0;HaplotypeScore=9.8712;MQ=56;MQ0=0;MQRankSum=-0.732;QD=13.44;ReadPosRankSum=-2.869;SB=-230.17;TI=NM_033028;GI=BBS4;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,54:107:99:1468,0,1491:56:99:0.505 chr15 73002035 rs8033604 G A 3703.23 PASS DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=55;MQ0=0;QD=27.23;SB=-2084.24;TI=NM_033028;GI=BBS4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,136:136:99:3703,262,0:55:99:1.000 chr15 73023937 rs12914333 T C 3757.70 PASS DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=53;MQ0=0;QD=27.83;SB=-2193.16;TI=NM_033028;GI=BBS4;FC=Synonymous_F302F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:135:99:3758,268,0:53:99:1.000 chr15 73027478 rs2277598 T C 1311.29 PASS BaseQRankSum=0.943;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6717;MQ=51;MQ0=0;MQRankSum=1.750;QD=9.30;ReadPosRankSum=-0.158;SB=-881.63;TI=NM_033028;GI=BBS4;FC=Missense_I354T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,57:141:99:1341,0,1959:51:99:0.404 chr15 73614834 rs529004 T C 766.52 PASS DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=57;MQ0=0;QD=31.94;SB=-159.10;TI=NM_005477;GI=HCN4;FC=Synonymous_P1200P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,23:24:60.19:800,60,0:57:60:1.000 chr15 74219546 rs1048661 G T 1874.46 PASS BaseQRankSum=1.209;DP=133;Dels=0.00;FS=8.414;HRun=0;HaplotypeScore=6.3878;MQ=56;MQ0=0;MQRankSum=-0.763;QD=14.09;ReadPosRankSum=-2.637;SB=-643.31;TI=NM_005576;GI=LOXL1;FC=Missense_R141L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,69:133:99:1904,0,1519:56:99:0.519 chr15 74336633 rs5742915 T C 1693.18 PASS BaseQRankSum=-1.663;DP=143;Dels=0.00;FS=0.696;HRun=2;HaplotypeScore=7.5194;MQ=57;MQ0=0;MQRankSum=1.733;QD=11.84;ReadPosRankSum=-1.096;SB=-621.99;TI=NM_033238;GI=PML;FC=Missense_F645L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,63:143:99:1723,0,2099:57:99:0.444 chr15 74473739 rs736118 C T 893.77 PASS BaseQRankSum=-0.070;DP=90;Dels=0.00;FS=1.796;HRun=0;HaplotypeScore=4.5758;MQ=54;MQ0=0;MQRankSum=0.490;QD=9.93;ReadPosRankSum=-1.520;SB=-404.72;TI=NM_022369,NM_001199042,NM_001142618,NM_001199041,NM_001142617,NM_001142619,NM_001199040;GI=STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6;FC=Missense_M527I,Missense_M566I,Missense_M527I,Missense_M542I,Missense_M527I,Missense_M518I,Missense_M564I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,36:90:99:924,0,1432:54:99:0.400 chr15 74476340 rs2277608 G C 630.31 PASS BaseQRankSum=1.702;DP=64;Dels=0.00;FS=2.233;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-0.581;QD=9.85;ReadPosRankSum=-0.923;SB=-254.03;TI=NM_022369,NM_001199042,NM_001142618,NM_001199041,NM_001142617,NM_001142619,NM_001199040;GI=STRA6,STRA6,STRA6,STRA6,STRA6,STRA6,STRA6;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,26:64:99:660,0,947:58:99:0.406 chr15 75047426 rs2470890 C T 782.49 PASS BaseQRankSum=0.056;DP=67;Dels=0.00;FS=1.041;HRun=1;HaplotypeScore=7.0979;MQ=54;MQ0=0;MQRankSum=-0.232;QD=11.68;ReadPosRankSum=0.471;SB=-250.41;TI=NM_000761;GI=CYP1A2;FC=Synonymous_N516N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,32:67:99:812,0,907:54:99:0.478 chr15 75185670 rs7495739 A G 1899.59 PASS BaseQRankSum=-0.494;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2544;MQ=53;MQ0=0;MQRankSum=0.269;QD=9.50;ReadPosRankSum=-1.297;SB=-896.98;TI=NM_002435;GI=MPI;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,82:200:99:1930,0,3022:53:99:0.412 chr15 75189930 rs1130741 A G 2065.44 PASS BaseQRankSum=2.502;DP=142;Dels=0.00;FS=2.257;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.364;QD=14.55;ReadPosRankSum=-0.607;SB=-1209.26;TI=NM_002435;GI=MPI;FC=Synonymous_V377V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,88:142:99:2095,0,1268:53:99:0.620 chr15 78398146 rs10456 G A 233.50 PASS BaseQRankSum=1.951;DP=34;Dels=0.00;FS=3.325;HRun=0;HaplotypeScore=4.5697;MQ=50;MQ0=0;MQRankSum=-0.442;QD=6.87;ReadPosRankSum=-0.920;SB=-143.46;TI=NM_006383;GI=CIB2;FC=Synonymous_D159D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,11:34:99:263,0,508:50:99:0.324 chr15 78565478 rs7163689 C T 1343.42 PASS BaseQRankSum=-0.200;DP=128;Dels=0.00;FS=5.472;HRun=1;HaplotypeScore=3.5764;MQ=53;MQ0=0;MQRankSum=2.447;QD=10.50;ReadPosRankSum=0.506;SB=-965.34;TI=NM_018602,NM_001130182,NM_001130183;GI=DNAJA4,DNAJA4,DNAJA4;FC=Synonymous_L148L,Synonymous_L119L,Synonymous_L92L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,61:128:99:1373,0,1618:53:99:0.477 chr15 78567853 rs967821 G T 1788.84 PASS BaseQRankSum=0.654;DP=111;Dels=0.00;FS=4.850;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=2.038;QD=16.12;ReadPosRankSum=0.642;SB=-842.95;TI=NM_018602,NM_001130182,NM_001130183;GI=DNAJA4,DNAJA4,DNAJA4;FC=Synonymous_G249G,Synonymous_G220G,Synonymous_G193G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,64:111:99:1819,0,1132:55:99:0.577 chr15 78880752 rs2229961 G A 1573.08 PASS BaseQRankSum=-0.264;DP=115;Dels=0.00;FS=5.937;HRun=0;HaplotypeScore=6.7752;MQ=56;MQ0=0;MQRankSum=0.904;QD=13.68;ReadPosRankSum=1.715;SB=-907.45;TI=NM_000745;GI=CHRNA5;FC=Missense_V134I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,58:115:99:1603,0,1523:56:99:0.509 chr15 78882925 rs16969968 G A 4706.68 PASS BaseQRankSum=0.554;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=55;MQ0=0;MQRankSum=-0.092;QD=31.38;ReadPosRankSum=-1.201;SB=-2045.53;TI=NM_000745;GI=CHRNA5;FC=Missense_D398N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,149:150:99:4707,311,0:55:99:0.993 chr15 78894339 rs1051730 G A 1278.97 PASS DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=33.66;SB=-450.59;TI=NM_001166694,NM_000743;GI=CHRNA3,CHRNA3;FC=Synonymous_Y215Y,Synonymous_Y215Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,38:38:99:1312,99,0:55:99:1.000 chr15 78909452 rs3743075 T C 2407.00 PASS DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=25.07;SB=-1738.00;TI=NM_001166694,NM_000743;GI=CHRNA3,CHRNA3;FC=Synonymous_K97K,Synonymous_K97K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,96:96:99:2440,172,0:50:99:1.000 chr15 78909480 rs3743074 G A 1941.31 PASS DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7687;MQ=53;MQ0=0;QD=25.88;SB=-1338.66;TI=NM_001166694,NM_000743;GI=CHRNA3,CHRNA3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:1974,141,0:53:99:1.000 chr15 78911181 rs8040868 T C 4504.65 PASS BaseQRankSum=1.665;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.7405;MQ=51;MQ0=0;MQRankSum=1.621;QD=28.88;ReadPosRankSum=0.777;SB=-2540.54;TI=NM_001166694,NM_000743;GI=CHRNA3,CHRNA3;FC=Synonymous_V53V,Synonymous_V53V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,155:156:99:4505,328,0:51:99:0.994 chr15 78911261 rs2869547 T C 2240.50 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5383;MQ=54;MQ0=0;QD=26.99;SB=-1239.92;TI=NM_001166694,NM_000743;GI=CHRNA3,CHRNA3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2274,163,0:54:99:1.000 chr15 78913067 rs66793222 ACAG A 1096.38 PASS DP=28;FS=0.000;HRun=0;HaplotypeScore=34.0213;MQ=54;MQ0=0;QD=39.16;SB=-397.11;TI=NM_001166694,NM_000743;GI=CHRNA3,CHRNA3;FC=1AA_Deletion,1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,21:28:69.22:1138,69,0:54:69:0.808 chr15 78917399 rs1948 A G 2573.93 PASS DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5321;MQ=56;MQ0=0;QD=27.98;SB=-1186.56;TI=NM_000750;GI=CHRNB4;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2607,190,0:56:99:1.000 chr15 80137560 rs8923 T C 999.03 PASS BaseQRankSum=0.868;DP=95;Dels=0.00;FS=1.694;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=2.506;QD=10.52;ReadPosRankSum=0.507;SB=-558.23;TI=NR_037654,NM_006441,NM_001199758,NM_001199760;GI=MTHFS,MTHFS,MTHFS,ST20-MTHFS;FC=Silent,Missense_T202A,Missense_T145A,Missense_T178A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,41:95:99:1029,0,1541:56:99:0.432 chr15 80260014 rs8026803 T C 1224.46 PASS BaseQRankSum=0.883;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5105;MQ=51;MQ0=0;MQRankSum=0.092;QD=11.55;ReadPosRankSum=-0.896;SB=-791.09;TI=NM_001114735,NM_004049;GI=BCL2A1,BCL2A1;FC=Synonymous_T147T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,50:106:99:1254,0,1375:51:99:0.472 chr15 80263217 rs3826007 C T 1459.19 PASS BaseQRankSum=0.765;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9821;MQ=58;MQ0=0;MQRankSum=0.706;QD=13.03;ReadPosRankSum=2.136;SB=-842.78;TI=NM_001114735,NM_004049;GI=BCL2A1,BCL2A1;FC=Missense_G82D,Missense_G82D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,52:112:99:1489,0,1572:58:99:0.468 chr15 80263345 rs1138358 A C 2981.00 PASS BaseQRankSum=1.273;DP=297;Dels=0.00;FS=0.891;HRun=1;HaplotypeScore=11.3934;MQ=54;MQ0=0;MQRankSum=1.445;QD=10.04;ReadPosRankSum=-0.653;SB=-2086.85;TI=NM_001114735,NM_004049;GI=BCL2A1,BCL2A1;FC=Missense_N39K,Missense_N39K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:165,132:297:99:3011,0,4015:54:99:0.444 chr15 80263406 rs1138357 C T 2579.95 PASS BaseQRankSum=3.331;DP=238;Dels=0.00;FS=1.581;HRun=0;HaplotypeScore=6.2586;MQ=55;MQ0=0;MQRankSum=2.533;QD=10.84;ReadPosRankSum=0.889;SB=-1651.92;TI=NM_001114735,NM_004049;GI=BCL2A1,BCL2A1;FC=Missense_C19Y,Missense_C19Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:127,111:238:99:2610,0,3127:55:99:0.466 chr15 81212608 rs1553647 G A 2001.03 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=54;MQ0=0;QD=28.59;SB=-926.77;TI=NM_018689;GI=KIAA1199;FC=Synonymous_P657P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,70:70:99:2034,150,0:54:99:1.000 chr15 81578139 rs4072111 C T 527.94 PASS BaseQRankSum=-0.286;DP=97;Dels=0.00;FS=0.855;HRun=0;HaplotypeScore=1.7882;MQ=48;MQ0=0;MQRankSum=0.651;QD=5.44;ReadPosRankSum=-0.316;SB=-409.32;TI=NM_001172128,NM_172217;GI=IL16,IL16;FC=Missense_P434S,Missense_P434S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,33:97:99:558,0,1393:48:99:0.340 chr15 81582868 rs8031107 G A 781.35 PASS BaseQRankSum=0.276;DP=94;Dels=0.00;FS=2.790;HRun=1;HaplotypeScore=2.7616;MQ=52;MQ0=0;MQRankSum=-0.852;QD=8.31;ReadPosRankSum=-1.366;SB=-598.39;TI=NM_001172128,NM_172217;GI=IL16,IL16;FC=Synonymous_Q469Q,Synonymous_Q469Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,39:94:99:811,0,1280:52:99:0.415 chr15 81584925 rs61752774 C T 1333.72 PASS BaseQRankSum=0.575;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5695;MQ=53;MQ0=0;MQRankSum=1.122;QD=9.33;ReadPosRankSum=0.322;SB=-713.33;TI=NM_001172128,NM_172217;GI=IL16,IL16;FC=Synonymous_H483H,Synonymous_H483H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,55:143:99:1364,0,2254:53:99:0.385 chr15 81600995 rs4238526 A G 5429.69 PASS DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6938;MQ=55;MQ0=0;QD=28.58;SB=-3623.56;TI=NM_001172128,NM_172217,NM_004513;GI=IL16,IL16,IL16;FC=Synonymous_L1284L,Synonymous_L1285L,Synonymous_L584L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,190:190:99:5430,394,0:55:99:1.000 chr15 83523387 rs2306428 C T 1572.91 PASS BaseQRankSum=1.666;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1498;MQ=56;MQ0=0;MQRankSum=1.374;QD=11.16;ReadPosRankSum=2.178;SB=-920.96;TI=NM_004839,NM_199331,NM_199332,NM_199330;GI=HOMER2,HOMER2,HOMER2,HOMER2;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,68:141:99:1603,0,1788:56:99:0.486 chr15 84488636 rs4483821 A G 2033.69 PASS BaseQRankSum=0.665;DP=177;Dels=0.00;FS=1.872;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.715;QD=11.49;ReadPosRankSum=0.903;SB=-1373.62;TI=NM_207517;GI=ADAMTSL3;FC=Missense_H146R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,86:177:99:2064,0,2237:54:99:0.486 chr15 84539619 rs4144691 C G 5178.19 PASS DP=161;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4723;MQ=56;MQ0=0;QD=32.16;SB=-2953.71;TI=NM_207517;GI=ADAMTSL3;FC=Missense_L290V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,161:161:99:5178,382,0:56:99:1.000 chr15 84581889 rs12439867 G A 553.63 PASS BaseQRankSum=1.742;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=51;MQ0=0;MQRankSum=-0.963;QD=6.29;ReadPosRankSum=-0.488;SB=-325.74;TI=NM_207517;GI=ADAMTSL3;FC=Synonymous_P582P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,28:88:99:584,0,1469:51:99:0.318 chr15 84581904 rs4842923 T C 553.01 PASS BaseQRankSum=1.111;DP=90;Dels=0.00;FS=1.937;HRun=0;HaplotypeScore=1.8888;MQ=51;MQ0=0;MQRankSum=0.606;QD=6.14;ReadPosRankSum=-0.458;SB=-262.02;TI=NM_207517;GI=ADAMTSL3;FC=Synonymous_R587R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,28:90:99:583,0,1510:51:99:0.311 chr15 84582124 rs4842838 G T 1031.46 PASS BaseQRankSum=1.010;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9994;MQ=53;MQ0=0;MQRankSum=2.580;QD=10.11;ReadPosRankSum=0.246;SB=-540.94;TI=NM_207517;GI=ADAMTSL3;FC=Missense_V661L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,41:102:99:1061,0,1505:53:99:0.402 chr15 84651290 rs7176737 T C 805.10 PASS BaseQRankSum=-0.081;DP=81;Dels=0.00;FS=0.833;HRun=0;HaplotypeScore=2.8855;MQ=57;MQ0=0;MQRankSum=0.358;QD=9.94;ReadPosRankSum=-0.787;SB=-545.82;TI=NM_207517;GI=ADAMTSL3;FC=Synonymous_H970H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,35:81:99:835,0,1302:57:99:0.432 chr15 85333953 rs2241645 A G 1054.53 PASS BaseQRankSum=1.678;DP=81;Dels=0.00;FS=0.844;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=1.117;QD=13.02;ReadPosRankSum=1.725;SB=-690.05;TI=NM_014630;GI=ZNF592;FC=Synonymous_Q746Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,45:81:99:1085,0,788:54:99:0.556 chr15 85341859 rs8182086 G A 2987.15 PASS BaseQRankSum=3.795;DP=218;Dels=0.00;FS=8.873;HRun=2;HaplotypeScore=18.2726;MQ=56;MQ0=0;MQRankSum=1.084;QD=13.70;ReadPosRankSum=1.204;SB=-1561.18;TI=NM_014630;GI=ZNF592;FC=Missense_S926N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,116:218:99:3017,0,2505:56:99:0.532 chr15 85438311 . C CTTG 2945.83 PASS BaseQRankSum=-2.439;DP=105;FS=0.727;HRun=0;HaplotypeScore=48.5578;MQ=56;MQ0=0;MQRankSum=2.195;QD=28.06;ReadPosRankSum=0.106;SB=-1469.59;TI=NM_201651,NM_004213;GI=SLC28A1,SLC28A1;FC=1AA_Insertion,1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,52:105:99:2985,0,2928:56:99:0.500 chr15 85467207 rs3825875 T C 1084.61 PASS BaseQRankSum=0.815;DP=96;Dels=0.00;FS=2.706;HRun=2;HaplotypeScore=5.9879;MQ=55;MQ0=0;MQRankSum=1.674;QD=11.30;ReadPosRankSum=2.856;SB=-803.50;TI=NM_004213;GI=SLC28A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,51:96:99:1115,0,1009:55:99:0.531 chr15 85476441 rs2305367 G A 3701.23 PASS DP=133;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=27.83;SB=-2535.21;TI=NM_004213;GI=SLC28A1;FC=Synonymous_K383K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:3701,265,0:53:99:1.000 chr15 85478410 rs2242048 A G 1822.53 PASS DP=65;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.3086;MQ=56;MQ0=0;QD=28.04;SB=-1221.01;TI=NM_004213;GI=SLC28A1;FC=Synonymous_Q456Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:1856,135,0:56:99:1.000 chr15 85478696 rs2242047 C T 1448.79 PASS BaseQRankSum=-0.809;DP=155;Dels=0.00;FS=1.278;HRun=0;HaplotypeScore=10.8685;MQ=54;MQ0=0;MQRankSum=2.026;QD=9.35;ReadPosRankSum=0.885;SB=-988.87;TI=NM_004213;GI=SLC28A1;FC=Missense_R510C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,64:155:99:1479,0,2131:54:99:0.413 chr15 86122779 rs2061822 T C 2385.67 PASS BaseQRankSum=1.636;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6446;MQ=59;MQ0=0;MQRankSum=1.636;QD=33.13;ReadPosRankSum=0.048;SB=-800.89;TI=NM_007200,NM_006738;GI=AKAP13,AKAP13;FC=Missense_W494R,Missense_W494R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,71:72:99:2419,154,0:59:99:0.986 chr15 86122875 rs34434221 A C 1342.32 PASS DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=36.28;SB=-673.90;TI=NM_007200,NM_006738;GI=AKAP13,AKAP13;FC=Missense_K526Q,Missense_K526Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,37:37:99:1375,105,0:57:99:1.000 chr15 88576185 rs55703281 G C 3123.93 PASS BaseQRankSum=0.436;DP=277;Dels=0.00;FS=0.440;HRun=3;HaplotypeScore=16.0049;MQ=54;MQ0=0;MQRankSum=1.651;QD=11.28;ReadPosRankSum=1.588;SB=-2147.49;TI=NM_001012338,NM_002530,NM_001007156;GI=NTRK3,NTRK3,NTRK3;FC=Synonymous_A496A,Synonymous_A496A,Synonymous_A496A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:139,138:277:99:3154,0,3209:54:99:0.498 chr15 88679785 rs1863480 G A 4647.46 PASS DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=26.11;SB=-3354.18;TI=NM_001012338,NM_002530,NM_001007156;GI=NTRK3,NTRK3,NTRK3;FC=Synonymous_N226N,Synonymous_N226N,Synonymous_N226N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,178:178:99:4647,328,0:52:99:1.000 chr15 89391160 rs2272023 C A 2455.36 PASS BaseQRankSum=0.930;DP=225;Dels=0.00;FS=0.492;HRun=0;HaplotypeScore=4.3608;MQ=52;MQ0=0;MQRankSum=-0.032;QD=10.91;ReadPosRankSum=0.317;SB=-1842.68;TI=NM_013227,NM_001135;GI=ACAN,ACAN;FC=Synonymous_P541P,Synonymous_P541P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,117:225:99:2485,0,2412:52:99:0.520 chr15 89392745 rs1568116 T C 7354.94 PASS DP=256;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.9665;MQ=55;MQ0=0;QD=28.73;SB=-3706.89;TI=NM_013227,NM_001135;GI=ACAN,ACAN;FC=Synonymous_A603A,Synonymous_A603A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,255:256:99:7355,539,0:55:99:1.000 chr15 89417238 rs1126823 A G 678.23 PASS BaseQRankSum=0.331;DP=78;Dels=0.00;FS=0.940;HRun=1;HaplotypeScore=2.7605;MQ=56;MQ0=0;MQRankSum=3.340;QD=8.70;ReadPosRankSum=2.430;SB=-271.19;TI=NM_013227,NM_001135;GI=ACAN,ACAN;FC=Missense_Q2500R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,29:78:99:708,0,1218:56:99:0.372 chr15 89417629 rs2280465 G A 1909.92 PASS BaseQRankSum=1.302;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6545;MQ=51;MQ0=0;MQRankSum=1.264;QD=11.94;ReadPosRankSum=0.616;SB=-1257.10;TI=NM_013227,NM_001135;GI=ACAN,ACAN;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,80:160:99:1940,0,1823:51:99:0.500 chr15 89449137 rs3743388 C G 1840.27 PASS BaseQRankSum=1.423;DP=159;Dels=0.00;FS=2.837;HRun=1;HaplotypeScore=14.6584;MQ=53;MQ0=0;MQRankSum=1.347;QD=11.57;ReadPosRankSum=0.009;SB=-1372.00;TI=NM_005928,NM_001114614;GI=MFGE8,MFGE8;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,84:159:99:1870,0,1642:53:99:0.528 chr15 89450546 rs1878327 C T 3354.65 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.6979;MQ=53;MQ0=0;QD=29.17;SB=-1716.51;TI=NM_005928,NM_001114614;GI=MFGE8,MFGE8;FC=Synonymous_S89S,Synonymous_S89S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3355,244,0:53:99:1.000 chr15 89450587 rs1878326 G T 2766.40 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9983;MQ=55;MQ0=0;QD=29.43;SB=-1778.65;TI=NM_005928,NM_001114614;GI=MFGE8,MFGE8;FC=Missense_L76M,Missense_L76M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2799,205,0:55:99:1.000 chr15 89453060 . C T 1602.36 PASS BaseQRankSum=2.912;DP=121;Dels=0.00;FS=1.514;HRun=0;HaplotypeScore=7.9920;MQ=54;MQ0=0;MQRankSum=0.461;QD=13.24;ReadPosRankSum=-0.576;SB=-854.10;TI=NM_005928,NM_001114614;GI=MFGE8,MFGE8;FC=Synonymous_T56T,Synonymous_T56T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,67:121:99:1632,0,1213:54:99:0.554 chr15 89456544 rs4945 G T 33.89 PASS BaseQRankSum=-0.442;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.664;QD=1.36;ReadPosRankSum=-2.140;SB=-30.08;TI=NM_005928,NM_001114614;GI=MFGE8,MFGE8;FC=Missense_R3S,Missense_R3S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,5:25:63.88:64,0,519:55:34:0.200 chr15 89803950 rs62020347 C T 355.32 PASS BaseQRankSum=0.883;DP=35;Dels=0.00;FS=5.584;HRun=0;HaplotypeScore=1.8888;MQ=56;MQ0=0;MQRankSum=0.717;QD=10.15;ReadPosRankSum=0.217;SB=-200.17;TI=NM_001113378,NM_018193;GI=FANCI,FANCI;FC=Missense_P55L,Missense_P55L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,15:35:99:385,0,530:56:99:0.429 chr15 89838236 rs7183618 G A 3053.48 PASS DP=105;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=29.08;SB=-1825.03;TI=NM_001113378,NM_018193;GI=FANCI,FANCI;FC=Synonymous_K849K,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:3086,223,0:54:99:1.000 chr15 89876827 rs41550117 T TTGC 1865.63 R8 BaseQRankSum=-0.083;DP=119;FS=2.136;HRun=0;HaplotypeScore=95.9258;MQ=59;MQ0=0;MQRankSum=3.125;QD=15.68;ReadPosRankSum=0.044;SB=-343.88;TI=NM_001126131,NM_002693;GI=POLG,POLG;FC=1AA_Insertion,1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,44:119:99:1905,0,1992:59:99:0.389 chr15 90172600 rs74251725 G A 584.72 PASS BaseQRankSum=0.223;DP=25;Dels=0.00;FS=2.830;HRun=0;HaplotypeScore=1.6643;MQ=56;MQ0=0;MQRankSum=0.477;QD=23.39;ReadPosRankSum=-0.350;SB=-70.99;TI=NM_198525;GI=KIF7;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,19:25:99:615,0,130:56:99:0.760 chr15 90173734 rs35820949 C CAG 686.78 PASS BaseQRankSum=-1.483;DP=35;FS=6.084;HRun=0;HaplotypeScore=60.0633;MQ=58;MQ0=0;MQRankSum=-0.350;QD=19.62;ReadPosRankSum=0.817;SB=-252.63;TI=NM_198525;GI=KIF7;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,15:35:99:726,0,1003:58:99:0.429 chr15 90174789 rs9672286 C T 852.49 PASS BaseQRankSum=-0.279;DP=96;Dels=0.00;FS=0.798;HRun=0;HaplotypeScore=1.8934;MQ=52;MQ0=0;MQRankSum=1.024;QD=8.88;ReadPosRankSum=-2.341;SB=-548.06;TI=NM_198525;GI=KIF7;FC=Synonymous_S1016S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,37:96:99:882,0,1529:52:99:0.385 chr15 90174824 rs12900805 C T 659.66 PASS BaseQRankSum=0.288;DP=81;Dels=0.00;FS=1.883;HRun=0;HaplotypeScore=4.4665;MQ=52;MQ0=0;MQRankSum=-0.056;QD=8.14;ReadPosRankSum=1.126;SB=-399.30;TI=NM_198525;GI=KIF7;FC=Missense_G1005R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,30:81:99:690,0,1225:52:99:0.380 chr15 90176073 rs3803530 C A 1388.10 PASS BaseQRankSum=-0.503;DP=130;Dels=0.00;FS=2.248;HRun=0;HaplotypeScore=6.2312;MQ=53;MQ0=0;MQRankSum=0.713;QD=10.68;ReadPosRankSum=1.006;SB=-924.19;TI=NM_198525;GI=KIF7;FC=Missense_S958I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,63:130:99:1418,0,1654:53:99:0.485 chr15 90176432 rs3803531 T G 4306.69 PASS DP=151;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=51;MQ0=0;QD=28.52;SB=-2346.19;TI=NM_198525;GI=KIF7;FC=Synonymous_A886A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,151:151:99:4307,310,0:51:99:1.000 chr15 90188392 rs72750755 A T 897.15 PASS BaseQRankSum=1.462;DP=69;Dels=0.00;FS=5.167;HRun=0;HaplotypeScore=4.3811;MQ=59;MQ0=0;MQRankSum=-0.006;QD=13.00;ReadPosRankSum=-1.005;SB=-425.36;TI=NM_198525;GI=KIF7;FC=Synonymous_V681V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,37:69:99:927,0,888:59:99:0.536 chr15 90191627 . G A 4.58 LowGQX;LowDP BaseQRankSum=-1.380;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60;MQ0=0;MQRankSum=-0.720;QD=0.76;ReadPosRankSum=0.000;SB=-21.66;TI=NM_198525;GI=KIF7;FC=Synonymous_G434G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,2:6:32.72:33,0,113:60:5:0.333 chr15 90191827 rs8037349 T C 2519.03 PASS DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2475;MQ=57;MQ0=0;QD=32.30;SB=-478.86;TI=NM_198525;GI=KIF7;FC=Missense_T368A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:78:99:2552,193,0:57:99:1.000 chr15 90195967 rs8179066 C G 4291.80 PASS DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3630;MQ=58;MQ0=0;QD=28.05;SB=-2662.40;TI=NM_198525;GI=KIF7;FC=Synonymous_A65A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,153:153:99:4292,310,0:58:99:1.000 chr15 90196008 rs8179065 C T 1189.15 PASS BaseQRankSum=-0.109;DP=106;Dels=0.00;FS=2.986;HRun=1;HaplotypeScore=3.6546;MQ=59;MQ0=0;MQRankSum=1.660;QD=11.22;ReadPosRankSum=2.168;SB=-323.64;TI=NM_198525;GI=KIF7;FC=Missense_D52N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,43:106:99:1219,0,1736:59:99:0.406 chr15 90210263 rs2304795 A G 3276.50 PASS BaseQRankSum=0.916;DP=232;Dels=0.00;FS=1.047;HRun=4;HaplotypeScore=5.6549;MQ=53;MQ0=0;MQRankSum=-0.065;QD=14.12;ReadPosRankSum=-0.087;SB=-2113.57;TI=NM_001145311,NM_002666;GI=PLIN1,PLIN1;FC=Synonymous_P371P,Synonymous_P371P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,142:232:99:3276,0,2161:53:99:0.612 chr15 90213229 rs6496589 G C 2397.53 PASS DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=30.35;SB=-831.61;TI=NM_001145311,NM_002666;GI=PLIN1,PLIN1;FC=Missense_P194A,Missense_P194A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2431,178,0:55:99:1.000 chr15 90320134 . AGGGCAGGGGCAG A 1481.63 LowGQ BaseQRankSum=-1.734;DP=22;FS=4.559;HRun=0;HaplotypeScore=56.6608;MQ=56;MQ0=0;MQRankSum=0.000;QD=67.35;ReadPosRankSum=1.561;SB=-495.07;TI=NM_001039958;GI=MESP2;FC=4AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,18:22:29.29:1524,29,0:56:29:0.818 chr15 90320161 . G A 38.66 LowVariantFreq;SB BaseQRankSum=1.444;DP=31;Dels=0.00;FS=13.649;HRun=0;HaplotypeScore=0.9665;MQ=57;MQ0=0;MQRankSum=0.619;QD=1.25;ReadPosRankSum=-1.974;SB=-0.01;TI=NM_001039958;GI=MESP2;FC=Synonymous_G191G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,4:31:68.65:69,0,931:57:39:0.129 chr15 90969335 rs2256388 G T 679.63 PASS BaseQRankSum=0.644;DP=43;Dels=0.00;FS=2.169;HRun=3;HaplotypeScore=4.5761;MQ=59;MQ0=0;MQRankSum=0.036;QD=15.81;ReadPosRankSum=0.814;SB=-31.62;TI=NM_003870;GI=IQGAP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,22:43:99:710,0,666:59:99:0.512 chr15 91010776 rs1505936 T C 488.54 PASS BaseQRankSum=0.637;DP=70;Dels=0.00;FS=2.088;HRun=2;HaplotypeScore=5.3645;MQ=55;MQ0=0;MQRankSum=0.784;QD=6.98;ReadPosRankSum=1.054;SB=-323.74;TI=NM_003870;GI=IQGAP1;FC=Synonymous_P710P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,25:70:99:519,0,1228:55:99:0.357 chr15 91038078 rs79801882 G C 602.62 PASS BaseQRankSum=1.118;DP=43;Dels=0.00;FS=1.222;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-1.344;QD=14.01;ReadPosRankSum=0.565;SB=-431.02;TI=NM_003870;GI=IQGAP1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,27:43:99:633,0,400:58:99:0.628 chr15 91424574 rs6226 G C 4805.94 PASS DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=51;MQ0=0;QD=27.94;SB=-2760.74;TI=NM_002569;GI=FURIN;FC=Synonymous_G617G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,171:172:99:4806,349,0:51:99:1.000 chr15 91795758 rs16945457 A C 1293.31 PASS BaseQRankSum=0.440;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8928;MQ=56;MQ0=0;MQRankSum=3.563;QD=12.44;ReadPosRankSum=-1.490;SB=-369.31;TI=NM_001167580,NM_014848;GI=SV2B,SV2B;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,48:104:99:1323,0,1545:56:99:0.462 chr15 91811749 rs3743444 G A 2584.68 PASS BaseQRankSum=1.393;DP=211;Dels=0.00;FS=1.682;HRun=0;HaplotypeScore=3.7871;MQ=54;MQ0=0;MQRankSum=0.518;QD=12.25;ReadPosRankSum=-0.346;SB=-1678.71;TI=NM_001167580,NM_014848;GI=SV2B,SV2B;FC=Synonymous_V278V,Synonymous_V429V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,108:211:99:2615,0,2486:54:99:0.512 chr15 91825027 rs1117388 C T 2294.97 PASS BaseQRankSum=0.456;DP=188;Dels=0.00;FS=2.540;HRun=0;HaplotypeScore=6.5756;MQ=56;MQ0=0;MQRankSum=1.675;QD=12.21;ReadPosRankSum=1.528;SB=-1402.09;TI=NM_001167580,NM_014848;GI=SV2B,SV2B;FC=Synonymous_D330D,Synonymous_D481D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,95:188:99:2325,0,2494:56:99:0.505 chr15 93510603 rs4777755 A G 5664.16 PASS DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4377;MQ=54;MQ0=0;QD=30.29;SB=-3544.05;TI=NM_001271;GI=CHD2;FC=Synonymous_E683E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,186:187:99:5664,412,0:54:99:1.000 chr15 93521604 rs11074121 A G 2013.68 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.77;SB=-1143.74;TI=NM_001271;GI=CHD2;FC=Synonymous_Q906Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,70:70:99:2047,147,0:54:99:1.000 chr15 93536197 rs2272457 C T 3272.06 PASS DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6123;MQ=52;MQ0=0;QD=26.18;SB=-2417.74;TI=NM_001271;GI=CHD2;FC=Synonymous_Y1188Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3272,232,0:52:99:1.000 chr15 93545488 rs61756301 T A 2519.14 PASS BaseQRankSum=0.441;DP=180;Dels=0.00;FS=0.576;HRun=0;HaplotypeScore=11.5957;MQ=56;MQ0=0;MQRankSum=0.326;QD=14.00;ReadPosRankSum=-2.133;SB=-1186.45;TI=NM_001271;GI=CHD2;FC=Missense_S1407T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,98:180:99:2549,0,2084:56:99:0.544 chr15 93567864 rs12906163 A C 1741.99 PASS BaseQRankSum=-0.108;DP=146;Dels=0.00;FS=1.343;HRun=0;HaplotypeScore=10.4612;MQ=57;MQ0=0;MQRankSum=1.234;QD=11.93;ReadPosRankSum=0.241;SB=-939.04;TI=NM_001271;GI=CHD2;FC=Synonymous_R1806R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,68:146:99:1772,0,2161:57:99:0.466 chr15 93588289 rs4778078 G A 1006.41 PASS BaseQRankSum=-1.004;DP=93;Dels=0.00;FS=5.663;HRun=0;HaplotypeScore=4.9656;MQ=56;MQ0=0;MQRankSum=1.146;QD=10.82;ReadPosRankSum=2.004;SB=-321.06;TI=NM_001166286,NM_001166288,NM_001166289,NM_001166283,NM_001166287,NM_020211;GI=RGMA,RGMA,RGMA,RGMA,RGMA,RGMA;FC=Missense_A415V,Missense_A415V,Missense_A415V,Missense_A439V,Missense_A415V,Missense_A431V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,40:93:99:1036,0,1196:56:99:0.435 chr15 93588336 rs4238485 A C 4464.28 PASS BaseQRankSum=-0.130;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6482;MQ=53;MQ0=0;MQRankSum=-1.342;QD=27.90;ReadPosRankSum=-0.779;SB=-2609.81;TI=NM_001166286,NM_001166288,NM_001166289,NM_001166283,NM_001166287,NM_020211;GI=RGMA,RGMA,RGMA,RGMA,RGMA,RGMA;FC=Missense_D399E,Missense_D399E,Missense_D399E,Missense_D423E,Missense_D399E,Missense_D415E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,159:160:99:4464,287,0:53:99:0.994 chr15 93616975 rs4598860 A G 1468.07 PASS BaseQRankSum=-0.779;DP=126;Dels=0.00;FS=4.298;HRun=2;HaplotypeScore=3.5489;MQ=52;MQ0=0;MQRankSum=-0.838;QD=11.65;ReadPosRankSum=-1.805;SB=-983.05;TI=NM_001166283,NM_001166287,NM_020211;GI=RGMA,RGMA,RGMA;FC=Missense_L4P,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,66:126:99:1498,0,1563:52:99:0.524 chr15 99478225 rs2229765 G A 1711.05 PASS BaseQRankSum=3.357;DP=145;Dels=0.00;FS=0.621;HRun=1;HaplotypeScore=2.7798;MQ=56;MQ0=0;MQRankSum=-0.040;QD=11.80;ReadPosRankSum=-2.022;SB=-1174.89;TI=NM_000875;GI=IGF1R;FC=Synonymous_E1043E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,73:145:99:1741,0,1676:56:99:0.507 chr15 99646107 rs60530833 A AG 5669.09 PASS BaseQRankSum=-1.732;DP=127;FS=0.000;HRun=0;HaplotypeScore=156.4530;MQ=60;MQ0=0;MQRankSum=1.677;QD=44.64;ReadPosRankSum=0.522;SB=-2676.22;TI=NM_145728,NM_015286;GI=SYNM,SYNM;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,125:127:99:5669,374,0:60:99:0.992 chr15 99653800 rs2305445 T C 1213.49 PASS BaseQRankSum=0.918;DP=96;Dels=0.00;FS=0.750;HRun=0;HaplotypeScore=0.9998;MQ=52;MQ0=0;MQRankSum=-1.013;QD=12.64;ReadPosRankSum=-0.463;SB=-846.18;TI=NM_145728,NM_015286;GI=SYNM,SYNM;FC=Missense_X272R,Missense_X272R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,51:96:99:1243,0,1070:52:99:0.531 chr15 99670989 rs3743248 T C 2267.04 PASS BaseQRankSum=0.757;DP=204;Dels=0.00;FS=1.103;HRun=2;HaplotypeScore=7.3486;MQ=56;MQ0=0;MQRankSum=-0.463;QD=11.11;ReadPosRankSum=-2.066;SB=-1385.70;TI=NM_145728,NM_015286;GI=SYNM,SYNM;FC=Missense_L808P,Missense_L808P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,99:204:99:2297,0,2787:56:99:0.488 chr15 99671760 rs260087 T C 1988.41 PASS BaseQRankSum=-0.152;DP=179;Dels=0.00;FS=6.708;HRun=0;HaplotypeScore=6.1764;MQ=54;MQ0=0;MQRankSum=2.916;QD=11.11;ReadPosRankSum=-1.749;SB=-1309.32;TI=NM_145728,NM_015286;GI=SYNM,SYNM;FC=Missense_L1065S,Missense_L1065S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,85:179:99:2018,0,2389:54:99:0.475 chr15 99671775 . C T 1957.49 PASS BaseQRankSum=0.779;DP=177;Dels=0.00;FS=6.442;HRun=0;HaplotypeScore=4.4156;MQ=54;MQ0=0;MQRankSum=1.580;QD=11.06;ReadPosRankSum=-1.167;SB=-1265.28;TI=NM_145728,NM_015286;GI=SYNM,SYNM;FC=Missense_P1070L,Missense_P1070L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,81:177:99:1987,0,2563:54:99:0.458 chr15 99672722 rs2292288 A G 3963.86 PASS BaseQRankSum=2.724;DP=319;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=17.6935;MQ=56;MQ0=0;MQRankSum=0.826;QD=12.43;ReadPosRankSum=-0.645;SB=-2263.28;TI=NM_145728,NM_015286;GI=SYNM,SYNM;FC=Missense_R1386G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:160,159:319:99:3964,0,3765:56:99:0.498 chr15 100246936 rs325408 T C 1061.16 PASS BaseQRankSum=-0.312;DP=81;Dels=0.00;FS=4.281;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.754;QD=13.10;ReadPosRankSum=1.331;SB=-830.28;TI=NM_001130927,NM_001171894,NM_001130926,NM_005587,NM_001130928;GI=MEF2A,MEF2A,MEF2A,MEF2A,MEF2A;FC=Synonymous_N227N,Synonymous_N287N,Synonymous_N287N,Synonymous_N289N,Synonymous_N219N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,48:81:99:1091,0,751:55:99:0.593 chr15 100246942 rs325407 G A 2256.66 PASS DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=25.64;SB=-1627.65;TI=NM_001130927,NM_001171894,NM_001130926,NM_005587,NM_001130928;GI=MEF2A,MEF2A,MEF2A,MEF2A,MEF2A;FC=Synonymous_Q229Q,Synonymous_Q289Q,Synonymous_Q289Q,Synonymous_Q291Q,Synonymous_Q221Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2290,163,0:54:99:1.000 chr15 100252805 rs325400 G T 1270.02 PASS BaseQRankSum=-1.780;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.6049;MQ=54;MQ0=0;MQRankSum=0.194;QD=10.76;ReadPosRankSum=-0.733;SB=-755.85;TI=NM_001130927,NM_001171894,NM_001130926,NM_005587,NM_001130928;GI=MEF2A,MEF2A,MEF2A,MEF2A,MEF2A;FC=Synonymous_G381G,Synonymous_G441G,Synonymous_G441G,Synonymous_G443G,Synonymous_G373G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,57:118:99:1300,0,1555:54:99:0.487 chr15 100514614 rs2573652 T C 634.55 PASS BaseQRankSum=1.134;DP=59;Dels=0.00;FS=2.453;HRun=0;HaplotypeScore=2.8571;MQ=53;MQ0=0;MQRankSum=1.304;QD=10.76;ReadPosRankSum=2.353;SB=-170.20;TI=NM_139057;GI=ADAMTS17;FC=Missense_N1094S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,24:59:99:665,0,914:53:99:0.407 chr15 100672237 rs12907333 T G 3710.02 PASS DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4430;MQ=53;MQ0=0;QD=27.28;SB=-2477.46;TI=NM_139057;GI=ADAMTS17;FC=Synonymous_R566R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,135:136:99:3710,271,0:53:99:1.000 chr15 100794363 rs4369638 C T 963.52 PASS BaseQRankSum=1.202;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5764;MQ=51;MQ0=0;MQRankSum=1.344;QD=10.83;ReadPosRankSum=1.018;SB=-678.32;TI=NM_139057;GI=ADAMTS17;FC=Synonymous_K351K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,43:89:99:994,0,1083:51:99:0.489 chr15 100801698 rs4965613 G A 424.45 PASS BaseQRankSum=-0.640;DP=50;Dels=0.00;FS=2.575;HRun=0;HaplotypeScore=4.5487;MQ=55;MQ0=0;MQRankSum=-1.699;QD=8.49;ReadPosRankSum=-1.379;SB=-288.89;TI=NM_139057;GI=ADAMTS17;FC=Synonymous_A339A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,19:50:99:454,0,792:55:99:0.380 chr15 101109677 rs8451 C A 2726.18 PASS BaseQRankSum=1.060;DP=212;Dels=0.00;FS=0.510;HRun=0;HaplotypeScore=3.6796;MQ=55;MQ0=0;MQRankSum=1.548;QD=12.86;ReadPosRankSum=1.201;SB=-1708.10;TI=NM_001040616;GI=LINS;FC=Missense_R680S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,109:212:99:2756,0,2551:55:99:0.514 chr15 101109794 rs12157 C G 1745.28 PASS BaseQRankSum=0.942;DP=102;Dels=0.00;FS=1.854;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.745;QD=17.11;ReadPosRankSum=0.221;SB=-620.59;TI=NM_001040616;GI=LINS;FC=Missense_E641D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,60:102:99:1775,0,1214:57:99:0.588 chr15 101109818 rs12460 G A 1394.32 PASS BaseQRankSum=0.554;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=57;MQ0=0;MQRankSum=0.634;QD=17.65;ReadPosRankSum=0.444;SB=-507.94;TI=NM_001040616;GI=LINS;FC=Synonymous_D633D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,47:79:99:1424,0,967:57:99:0.595 chr15 101109893 rs6598356 C A 788.44 PASS BaseQRankSum=1.143;DP=57;Dels=0.00;FS=1.054;HRun=0;HaplotypeScore=7.3792;MQ=54;MQ0=0;MQRankSum=1.446;QD=13.83;ReadPosRankSum=-0.999;SB=-441.74;TI=NM_001040616;GI=LINS;FC=Synonymous_G608G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,27:57:99:818,0,711:54:99:0.474 chr15 101110265 rs2411836 T A 161.30 SB;LowDP BaseQRankSum=-1.378;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.779;QD=13.44;ReadPosRankSum=0.779;SB=-0.01;TI=NM_001040616;GI=LINS;FC=Synonymous_T484T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,6:12:99:191,0,208:60:99:0.500 chr15 101110302 rs2411837 C G 111.52 SB;LowDP BaseQRankSum=0.937;DP=7;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.550;QD=15.93;ReadPosRankSum=-0.550;SB=-0.01;TI=NM_001040616;GI=LINS;FC=Missense_S472T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,4:7:99:142,0,100:60:99:0.571 chr15 101113862 rs12719734 C T 1358.24 SB DP=36;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=37.73;SB=-0.01;TI=NM_001040616;GI=LINS;FC=Missense_V406M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,36:36:99:1391,105,0:58:99:1.000 chr15 101113950 rs12592868 A G 906.64 PASS BaseQRankSum=0.250;DP=94;Dels=0.00;FS=0.853;HRun=2;HaplotypeScore=5.5759;MQ=57;MQ0=0;MQRankSum=0.643;QD=9.65;ReadPosRankSum=0.035;SB=-400.23;TI=NM_001040616;GI=LINS;FC=Synonymous_S376S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,38:94:99:937,0,1485:57:99:0.404 chr15 101114418 rs8039437 G A 223.41 PASS BaseQRankSum=-0.639;DP=28;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=-0.197;QD=7.98;ReadPosRankSum=-1.476;SB=-60.23;TI=NM_001040616;GI=LINS;FC=Synonymous_F220F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,9:28:99:253,0,621:59:99:0.321 chr15 101120963 rs11247226 T C 180.13 SB;LowDP BaseQRankSum=1.936;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=60;MQ0=0;MQRankSum=1.670;QD=12.87;ReadPosRankSum=1.027;SB=-0.01;TI=NM_001040616;GI=LINS;FC=Missense_I29V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,7:14:99:210,0,164:60:99:0.500 chr15 101717680 rs8024370 G T 445.16 PASS BaseQRankSum=-0.450;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4491;MQ=57;MQ0=0;MQRankSum=0.810;QD=13.49;ReadPosRankSum=0.162;SB=-66.60;TI=NM_014918;GI=CHSY1;FC=Synonymous_T774T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,16:33:99:475,0,488:57:99:0.485 chr15 101718097 rs28364839 C G 3230.05 PASS BaseQRankSum=0.290;DP=232;Dels=0.00;FS=5.674;HRun=0;HaplotypeScore=12.1689;MQ=57;MQ0=0;MQRankSum=-0.731;QD=13.92;ReadPosRankSum=-1.721;SB=-1679.70;TI=NM_014918;GI=CHSY1;FC=Synonymous_V635V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,123:232:99:3259,0,3039:57:99:0.530 chr15 101791359 rs7176149 C G 940.32 PASS BaseQRankSum=-0.977;DP=76;Dels=0.00;FS=1.966;HRun=0;HaplotypeScore=3.4779;MQ=55;MQ0=0;MQRankSum=-0.538;QD=12.37;ReadPosRankSum=-0.716;SB=-473.21;TI=NM_014918;GI=CHSY1;FC=Synonymous_R101R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,42:76:99:970,0,787:55:99:0.553 chr15 101791605 rs7175303 G A 39.18 LowDP BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=36;MQ0=0;MQRankSum=-0.358;QD=7.84;ReadPosRankSum=-1.231;SB=-33.99;TI=NM_014918;GI=CHSY1;FC=Synonymous_G19G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,3:5:35.74:69,0,36:36:36:0.600 chr15 101817630 rs28368985 G T 132.37 LowDP BaseQRankSum=0.922;DP=16;Dels=0.00;FS=5.129;HRun=0;HaplotypeScore=0.9997;MQ=54;MQ0=0;MQRankSum=0.813;QD=8.27;ReadPosRankSum=-0.488;SB=-21.95;TI=NM_203472,NM_018445;GI=SELS,SELS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,6:16:99:162,0,312:54:99:0.375 chr16 129654 rs710081 C T 927.47 PASS BaseQRankSum=-0.392;DP=85;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.1755;MQ=55;MQ0=0;MQRankSum=2.244;QD=10.91;ReadPosRankSum=-0.172;SB=-527.42;TI=NM_001015054,NM_002434,NM_001015052;GI=MPG,MPG,MPG;FC=Synonymous_F73F,Synonymous_F90F,Synonymous_F85F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,39:85:99:957,0,1138:55:99:0.459 chr16 204269 . A C 4.52 LowGQX;LowVariantFreq;SB BaseQRankSum=-2.593;DP=66;Dels=0.00;FS=2.464;HRun=5;HaplotypeScore=19.7749;MQ=35;MQ0=9;MQRankSum=-1.915;QD=0.07;ReadPosRankSum=1.609;SB=-0.01;TI=NM_005332;GI=HBZ;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,9:66:32.63:33,0,1099:35:5:0.136 chr16 347184 rs214252 A G 657.50 PASS BaseQRankSum=1.272;DP=60;Dels=0.00;FS=7.414;HRun=1;HaplotypeScore=2.7260;MQ=57;MQ0=0;MQRankSum=-0.695;QD=10.96;ReadPosRankSum=-0.444;SB=-516.90;TI=NM_003502,NM_181050;GI=AXIN1,AXIN1;FC=Synonymous_A609A,Synonymous_A609A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,31:60:99:687,0,715:57:99:0.517 chr16 396264 rs1805105 A G 3317.20 PASS DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8561;MQ=55;MQ0=0;QD=31.59;SB=-1304.30;TI=NM_003502,NM_181050;GI=AXIN1,AXIN1;FC=Synonymous_D254D,Synonymous_D254D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:3317,244,0:55:99:1.000 chr16 424277 rs3743887 G A 4155.60 PASS BaseQRankSum=1.077;DP=360;Dels=0.00;FS=2.250;HRun=0;HaplotypeScore=10.5371;MQ=53;MQ0=0;MQRankSum=-2.206;QD=11.54;ReadPosRankSum=-2.115;SB=-2822.33;TI=NM_021259;GI=TMEM8A;FC=Missense_R567W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:189,171:360:99:4156,0,4565:53:99:0.475 chr16 426432 rs2071915 T C 3097.54 PASS BaseQRankSum=1.620;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9266;MQ=57;MQ0=0;MQRankSum=-0.540;QD=33.31;ReadPosRankSum=-0.838;SB=-1719.50;TI=NM_021259;GI=TMEM8A;FC=Missense_I310V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,92:93:99:3131,238,0:57:99:0.989 chr16 426761 . G A 1477.75 PASS BaseQRankSum=1.406;DP=180;Dels=0.00;FS=1.251;HRun=0;HaplotypeScore=5.4154;MQ=53;MQ0=0;MQRankSum=1.373;QD=8.21;ReadPosRankSum=-2.165;SB=-768.10;TI=NM_021259;GI=TMEM8A;FC=Synonymous_C229C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,64:180:99:1508,0,3011:53:99:0.356 chr16 427479 rs11248931 T C 2207.85 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5929;MQ=58;MQ0=0;QD=34.50;SB=-809.87;TI=NM_021259;GI=TMEM8A;FC=Missense_T136A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:2241,172,0:58:99:1.000 chr16 427516 rs11649031 T C 2245.04 PASS DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3905;MQ=58;MQ0=0;QD=35.64;SB=-962.63;TI=NM_021259;GI=TMEM8A;FC=Synonymous_V123V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:2278,175,0:58:99:1.000 chr16 427784 rs11641742 G A 6964.63 PASS DP=233;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0767;MQ=53;MQ0=0;QD=29.89;SB=-4194.06;TI=NM_021259;GI=TMEM8A;FC=Synonymous_Y62Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,232:233:99:6965,509,0:53:99:1.000 chr16 427820 rs12922073 C T 5854.33 PASS DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3591;MQ=52;MQ0=0;QD=30.02;SB=-3091.34;TI=NM_021259;GI=TMEM8A;FC=Synonymous_S50S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,195:195:99:5854,427,0:52:99:1.000 chr16 929606 rs61740409 C T 1001.05 PASS BaseQRankSum=2.098;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8720;MQ=50;MQ0=0;MQRankSum=1.199;QD=9.44;ReadPosRankSum=0.693;SB=-746.78;TI=NM_022773,NR_033646,NR_033645;GI=LMF1,LMF1,LMF1;FC=Synonymous_A287A,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,50:106:99:1031,0,1286:50:99:0.472 chr16 961051 rs2277893 C T 2175.20 PASS BaseQRankSum=3.602;DP=177;Dels=0.00;FS=3.556;HRun=0;HaplotypeScore=10.8593;MQ=56;MQ0=0;MQRankSum=0.106;QD=12.29;ReadPosRankSum=-0.252;SB=-1481.97;TI=NM_022773,NR_033646,NR_033645;GI=LMF1,LMF1,LMF1;FC=Synonymous_G181G,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,92:177:99:2205,0,1955:56:99:0.526 chr16 961054 rs2277892 C T 2197.56 PASS BaseQRankSum=3.897;DP=176;Dels=0.00;FS=4.406;HRun=0;HaplotypeScore=9.0273;MQ=56;MQ0=0;MQRankSum=0.699;QD=12.49;ReadPosRankSum=-0.018;SB=-1425.16;TI=NM_022773,NR_033646,NR_033645;GI=LMF1,LMF1,LMF1;FC=Synonymous_T180T,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,93:176:99:2228,0,1966:56:99:0.528 chr16 984113 rs11248955 C A 1756.43 PASS BaseQRankSum=0.681;DP=144;Dels=0.00;FS=2.134;HRun=0;HaplotypeScore=13.1276;MQ=52;MQ0=0;MQRankSum=0.172;QD=12.20;ReadPosRankSum=0.592;SB=-1163.71;TI=NM_022773,NR_033646,NR_033645;GI=LMF1,LMF1,LMF1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,75:144:99:1786,0,1744:52:99:0.524 chr16 1004554 rs3751667 C T 1019.42 PASS BaseQRankSum=0.831;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8758;MQ=54;MQ0=0;MQRankSum=2.379;QD=11.99;ReadPosRankSum=-0.295;SB=-527.28;TI=NM_022773,NR_033646,NR_033645;GI=LMF1,LMF1,LMF1;FC=Synonymous_T102T,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,41:85:99:1049,0,1083:54:99:0.482 chr16 1025977 . G GCAAGGAGCCTCATGAACTCTGTGGACATT 6321.81 LowVariantFreq BaseQRankSum=-1.780;DP=169;FS=9.679;HRun=0;HaplotypeScore=91.6628;MQ=54;MQ0=0;MQRankSum=-0.591;QD=37.41;ReadPosRankSum=1.304;SB=-1833.70;TI=NR_033645,NR_036442;GI=LMF1,LMF1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,23:169:99:6322,0,18312:54:99:0.159 chr16 1026209 rs2516061 G A 491.69 PASS BaseQRankSum=-1.141;DP=36;Dels=0.00;FS=1.423;HRun=0;HaplotypeScore=9.9288;MQ=55;MQ0=0;MQRankSum=-1.299;QD=13.66;ReadPosRankSum=0.412;SB=-149.28;TI=NR_033645,NR_036442;GI=LMF1,LMF1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,19:36:99:522,0,476:55:99:0.528 chr16 1026398 rs1978480 G A 2694.84 PASS BaseQRankSum=2.716;DP=179;Dels=0.00;FS=1.331;HRun=0;HaplotypeScore=5.5759;MQ=55;MQ0=0;MQRankSum=3.358;QD=15.05;ReadPosRankSum=-0.240;SB=-1009.38;TI=NR_033645,NR_036442;GI=LMF1,LMF1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,101:179:99:2725,0,2220:55:99:0.564 chr16 1026910 rs553256 T C 6689.42 PASS DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7181;MQ=56;MQ0=0;QD=32.16;SB=-3984.90;TI=NR_033645,NR_036442;GI=LMF1,LMF1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,208:208:99:6689,491,0:56:99:1.000 chr16 1026980 rs3803698 C T 2081.87 PASS BaseQRankSum=2.097;DP=153;Dels=0.00;FS=2.946;HRun=1;HaplotypeScore=9.8418;MQ=57;MQ0=0;MQRankSum=0.797;QD=13.61;ReadPosRankSum=-0.086;SB=-1214.67;TI=NR_033645,NR_036442;GI=LMF1,LMF1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,83:153:99:2112,0,1934:57:99:0.542 chr16 1027069 rs3803699 T C 1570.68 PASS BaseQRankSum=-0.122;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3842;MQ=56;MQ0=0;MQRankSum=-0.441;QD=11.99;ReadPosRankSum=-1.610;SB=-527.43;TI=NR_033645,NR_036442;GI=LMF1,LMF1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,60:131:99:1601,0,1939:56:99:0.458 chr16 1027099 rs3803700 A G 939.55 PASS BaseQRankSum=0.136;DP=76;Dels=0.00;FS=2.324;HRun=2;HaplotypeScore=1.9157;MQ=57;MQ0=0;MQRankSum=0.335;QD=12.36;ReadPosRankSum=-2.232;SB=-194.44;TI=NR_033645,NR_036442;GI=LMF1,LMF1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,33:76:99:970,0,1208:57:99:0.434 chr16 1031303 . T A 7.04 LowGQX BaseQRankSum=-0.425;DP=20;Dels=0.00;FS=2.392;HRun=0;HaplotypeScore=16.7530;MQ=42;MQ0=0;MQRankSum=-0.331;QD=0.35;ReadPosRankSum=1.276;SB=-12.93;TI=NR_033645,NR_036442;GI=LMF1,LMF1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,4:20:36.08:36,0,402:42:7:0.200 chr16 1031305 rs13333102 A T 132.53 LowDP BaseQRankSum=-0.328;DP=19;Dels=0.00;FS=2.158;HRun=0;HaplotypeScore=16.6682;MQ=41;MQ0=0;MQRankSum=-1.171;QD=6.98;ReadPosRankSum=-0.234;SB=-45.82;TI=NR_033645,NR_036442;GI=LMF1,LMF1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,6:19:99:163,0,215:41:99:0.333 chr16 1034834 rs237674 T C 3834.31 PASS DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5571;MQ=56;MQ0=0;QD=26.26;SB=-2756.10;TI=NM_014587;GI=SOX8;FC=Synonymous_N263N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:3834,274,0:56:99:1.000 chr16 1034954 rs11542178 T C 550.67 PASS BaseQRankSum=0.819;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6518;MQ=56;MQ0=0;MQRankSum=-0.378;QD=10.20;ReadPosRankSum=0.871;SB=-191.37;TI=NM_014587;GI=SOX8;FC=Synonymous_Y303Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,22:54:99:581,0,917:56:99:0.407 chr16 1129525 rs4988488 G A 345.03 PASS BaseQRankSum=-1.312;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=0.129;QD=13.27;ReadPosRankSum=-1.363;SB=-98.03;TI=NM_001172560,NM_001053;GI=SSTR5,SSTR5;FC=Synonymous_L219L,Synonymous_L219L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,12:26:99:375,0,416:59:99:0.462 chr16 1129872 rs169068 C T 405.26 PASS BaseQRankSum=1.208;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8665;MQ=60;MQ0=0;MQRankSum=-0.578;QD=8.27;ReadPosRankSum=-0.494;SB=-156.81;TI=NM_001172560,NM_001053;GI=SSTR5,SSTR5;FC=Missense_P335L,Missense_P335L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,17:49:99:435,0,850:60:99:0.347 chr16 1129912 rs642249 A G 1117.01 SB DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60;MQ0=0;QD=38.52;SB=-0.01;TI=NM_001172560,NM_001053;GI=SSTR5,SSTR5;FC=Synonymous_P348P,Synonymous_P348P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:87.28:1150,87,0:60:87:1.000 chr16 1250559 rs8044363 T C 1963.02 PASS BaseQRankSum=0.756;DP=160;Dels=0.00;FS=3.720;HRun=0;HaplotypeScore=14.3858;MQ=55;MQ0=0;MQRankSum=-0.882;QD=12.27;ReadPosRankSum=0.285;SB=-1310.28;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Synonymous_I369I,Synonymous_I369I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,82:160:99:1993,0,1941:55:99:0.513 chr16 1252259 rs9934839 A G 652.36 PASS BaseQRankSum=1.891;DP=54;Dels=0.00;FS=3.901;HRun=1;HaplotypeScore=4.4374;MQ=53;MQ0=0;MQRankSum=1.631;QD=12.08;ReadPosRankSum=-0.833;SB=-436.19;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Synonymous_R603R,Synonymous_R603R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,29:54:99:682,0,683:53:99:0.537 chr16 1255206 rs28365123 C T 1460.10 PASS BaseQRankSum=1.656;DP=133;Dels=0.00;FS=2.202;HRun=0;HaplotypeScore=8.2197;MQ=54;MQ0=0;MQRankSum=1.269;QD=10.98;ReadPosRankSum=-0.210;SB=-927.15;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Synonymous_G848G,Synonymous_G848G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,63:133:99:1490,0,1637:54:99:0.481 chr16 1260481 rs8063574 T C 2233.72 PASS DP=73;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=8.9903;MQ=53;MQ0=0;QD=30.60;SB=-927.08;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Synonymous_D1319D,Synonymous_D1319D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:73:99:2267,175,0:53:99:1.000 chr16 1260969 rs61910714 G A 567.69 PASS BaseQRankSum=-0.258;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8914;MQ=59;MQ0=0;MQRankSum=-0.095;QD=14.19;ReadPosRankSum=-1.210;SB=-206.64;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Synonymous_L1407L,Synonymous_L1407L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,22:40:99:598,0,533:59:99:0.550 chr16 1261219 rs2753326 A G 1338.95 PASS BaseQRankSum=2.203;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6023;MQ=52;MQ0=0;MQRankSum=1.292;QD=11.54;ReadPosRankSum=1.154;SB=-850.72;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Synonymous_S1425S,Synonymous_S1425S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,57:116:99:1369,0,1460:52:99:0.491 chr16 1261222 rs2753325 A G 1439.96 PASS BaseQRankSum=1.167;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7356;MQ=52;MQ0=0;MQRankSum=0.128;QD=11.71;ReadPosRankSum=0.983;SB=-890.46;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Synonymous_S1426S,Synonymous_S1426S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,61:123:99:1470,0,1501:52:99:0.500 chr16 1261282 rs4984637 T C 3480.19 PASS DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=53;MQ0=0;QD=27.40;SB=-2422.54;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Synonymous_I1446I,Synonymous_I1446I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:127:99:3480,250,0:53:99:1.000 chr16 1265385 rs72554026 C T 1616.79 PASS BaseQRankSum=1.856;DP=129;Dels=0.00;FS=1.421;HRun=0;HaplotypeScore=10.0293;MQ=57;MQ0=0;MQRankSum=3.015;QD=12.53;ReadPosRankSum=0.088;SB=-779.51;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,56:129:99:1647,0,1936:57:99:0.434 chr16 1268494 rs2745136 C T 826.65 PASS BaseQRankSum=1.192;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1023;MQ=53;MQ0=0;MQRankSum=-0.649;QD=12.34;ReadPosRankSum=-1.456;SB=-523.34;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Synonymous_D1910D,Synonymous_D1904D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,37:67:99:857,0,713:53:99:0.552 chr16 1269029 rs2738893 T C 914.52 PASS BaseQRankSum=1.885;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=3.032;QD=9.73;ReadPosRankSum=0.990;SB=-577.95;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Synonymous_L1983L,Synonymous_L1977L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,40:94:99:945,0,1443:52:99:0.426 chr16 1270162 rs1054645 G A 159.63 LowDP BaseQRankSum=-1.002;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.530;QD=10.64;ReadPosRankSum=0.059;SB=-138.19;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Missense_R2077H,Missense_R2071H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,9:15:99:190,0,165:52:99:0.600 chr16 1270349 rs4247094 T C 132.64 LowGQ;LowDP DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=22.11;SB=-80.66;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Synonymous_D2139D,Synonymous_D2133D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:12.04:165,12,0:53:12:1.000 chr16 1270554 rs60445853 G A 356.08 SB BaseQRankSum=1.054;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=56;MQ0=0;MQRankSum=-0.180;QD=13.70;ReadPosRankSum=2.340;SB=-0.01;TI=NM_021098,NM_001005407;GI=CACNA1H,CACNA1H;FC=Missense_A2208T,Missense_A2202T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,12:26:99:386,0,408:56:99:0.462 chr16 1419947 rs11248874 A G 1367.99 PASS DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=31.09;SB=-684.59;TI=NM_023076,NM_001193389,NM_001193388;GI=UNKL,UNKL,UNKL;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:99:1401,102,0:53:99:1.000 chr16 1420327 . G A 897.35 PASS BaseQRankSum=0.884;DP=92;Dels=0.00;FS=1.783;HRun=1;HaplotypeScore=6.3379;MQ=54;MQ0=0;MQRankSum=2.627;QD=9.75;ReadPosRankSum=-1.547;SB=-437.49;TI=NM_023076,NM_001193389,NM_001193388;GI=UNKL,UNKL,UNKL;FC=Silent,Silent,Synonymous_V460V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,40:92:99:927,0,1273:54:99:0.440 chr16 1447278 rs61738727 A G 1018.95 PASS BaseQRankSum=0.616;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4102;MQ=49;MQ0=1;MQRankSum=-0.643;QD=12.13;ReadPosRankSum=1.227;SB=-643.00;TI=NM_001193388;GI=UNKL;FC=Synonymous_S251S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,44:84:99:1049,0,914:49:99:0.524 chr16 1448920 . G T 877.86 PASS BaseQRankSum=-0.353;DP=76;Dels=0.00;FS=1.923;HRun=0;HaplotypeScore=6.5000;MQ=53;MQ0=0;MQRankSum=-1.933;QD=11.55;ReadPosRankSum=0.156;SB=-570.88;TI=NM_001193388,NM_001037125;GI=UNKL,UNKL;FC=Silent,Missense_L253I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,39:76:99:908,0,855:53:99:0.513 chr16 1464636 . A C 320.43 LowGQ;LowDP DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=43;MQ0=0;QD=21.36;SB=-277.15;TI=NM_001193388,NM_001037125;GI=UNKL,UNKL;FC=Synonymous_T19T,Synonymous_T19T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,15:15:24.08:353,24,0:43:24:1.000 chr16 1503879 rs2235579 T A 2197.46 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5473;MQ=54;MQ0=0;QD=28.54;SB=-1494.55;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Synonymous_A390A,Synonymous_A366A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2230,163,0:54:99:1.000 chr16 1509123 rs12923538 G A 1976.58 PASS BaseQRankSum=-0.084;DP=147;Dels=0.00;FS=1.340;HRun=0;HaplotypeScore=0.8321;MQ=54;MQ0=0;MQRankSum=2.448;QD=13.45;ReadPosRankSum=0.107;SB=-1212.44;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Synonymous_H220H,Synonymous_H196H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,83:147:99:2007,0,1555:54:99:0.565 chr16 1510538 rs35280276 A G 813.04 PASS BaseQRankSum=1.436;DP=68;Dels=0.00;FS=0.971;HRun=0;HaplotypeScore=4.4156;MQ=53;MQ0=0;MQRankSum=3.632;QD=11.96;ReadPosRankSum=-0.773;SB=-522.38;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,33:68:99:843,0,724:53:99:0.485 chr16 1524850 rs3751884 A G 66.54 SB;LowDP BaseQRankSum=-0.731;DP=10;Dels=0.00;FS=3.233;HRun=2;HaplotypeScore=0.0000;MQ=49;MQ0=0;MQRankSum=1.386;QD=6.65;ReadPosRankSum=0.296;SB=-0.01;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Synonymous_P42P,Synonymous_P42P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,3:10:96.53:97,0,180:49:67:0.300 chr16 1560954 rs61749517 G A 937.07 PASS BaseQRankSum=-0.217;DP=88;Dels=0.00;FS=1.732;HRun=0;HaplotypeScore=4.7298;MQ=53;MQ0=0;MQRankSum=1.163;QD=10.65;ReadPosRankSum=0.251;SB=-577.59;TI=NM_014714;GI=IFT140;FC=Synonymous_D1460D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,41:88:99:967,0,1197:53:99:0.466 chr16 1570022 . G A 2828.74 PASS BaseQRankSum=-0.672;DP=253;Dels=0.00;FS=9.011;HRun=0;HaplotypeScore=13.4329;MQ=54;MQ0=0;MQRankSum=0.575;QD=11.18;ReadPosRankSum=-0.350;SB=-1683.31;TI=NM_014714;GI=IFT140;FC=Synonymous_Y1300Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:133,119:253:99:2859,0,3717:54:99:0.472 chr16 1614097 rs8048410 A G 1747.14 PASS BaseQRankSum=-0.247;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=54;MQ0=0;MQRankSum=-0.789;QD=10.34;ReadPosRankSum=-1.829;SB=-1170.91;TI=NM_014714;GI=IFT140;FC=Synonymous_S656S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,79:169:99:1777,0,2139:54:99:0.467 chr16 1634385 rs34762152 C T 2160.20 PASS BaseQRankSum=2.406;DP=209;Dels=0.00;FS=1.093;HRun=0;HaplotypeScore=8.8530;MQ=54;MQ0=0;MQRankSum=2.877;QD=10.34;ReadPosRankSum=0.937;SB=-1274.11;TI=NM_014714;GI=IFT140;FC=Missense_V398I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,90:209:99:2190,0,2956:54:99:0.431 chr16 1840903 . C T 3848.98 PASS BaseQRankSum=-0.031;DP=288;Dels=0.00;FS=1.522;HRun=0;HaplotypeScore=13.9542;MQ=56;MQ0=0;MQRankSum=2.335;QD=13.36;ReadPosRankSum=0.417;SB=-1581.47;TI=NM_004970,NM_001146006,NR_027389;GI=IGFALS,IGFALS,IGFALS;FC=Missense_G506R,Missense_G544R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:143,145:288:99:3849,0,3726:56:99:0.503 chr16 1841033 rs17559 G A 4310.84 PASS BaseQRankSum=-2.058;DP=284;Dels=0.00;FS=0.922;HRun=0;HaplotypeScore=10.8734;MQ=57;MQ0=0;MQRankSum=1.258;QD=15.18;ReadPosRankSum=0.062;SB=-2359.59;TI=NM_004970,NM_001146006,NR_027389;GI=IGFALS,IGFALS,IGFALS;FC=Synonymous_Y462Y,Synonymous_Y500Y,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,155:284:99:4311,0,3469:57:99:0.546 chr16 1842209 rs3751893 A G 4509.06 PASS BaseQRankSum=0.218;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0090;MQ=56;MQ0=0;MQRankSum=-1.369;QD=31.75;ReadPosRankSum=2.188;SB=-2445.09;TI=NM_004970,NM_001146006,NR_027389;GI=IGFALS,IGFALS,IGFALS;FC=Synonymous_D70D,Synonymous_D108D,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,139:142:99:4509,295,0:56:99:0.986 chr16 1842271 . C T 1304.11 PASS BaseQRankSum=0.003;DP=109;Dels=0.00;FS=3.666;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.755;QD=11.96;ReadPosRankSum=1.003;SB=-589.58;TI=NM_004970,NM_001146006,NR_027389;GI=IGFALS,IGFALS,IGFALS;FC=Missense_D50N,Missense_D88N,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,53:109:99:1334,0,1537:57:99:0.486 chr16 1844872 rs3829561 G A 809.29 PASS BaseQRankSum=1.216;DP=87;Dels=0.00;FS=4.267;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=1.251;QD=9.30;ReadPosRankSum=0.117;SB=-520.66;TI=NR_027389;GI=IGFALS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,35:87:99:839,0,1291:52:99:0.402 chr16 1844875 rs3829562 G A 804.01 PASS BaseQRankSum=0.466;DP=89;Dels=0.00;FS=2.965;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.457;QD=9.03;ReadPosRankSum=0.626;SB=-514.77;TI=NR_027389;GI=IGFALS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,35:89:99:834,0,1236:53:99:0.393 chr16 2035907 rs36041021 T C 1422.96 PASS BaseQRankSum=0.683;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8640;MQ=52;MQ0=0;MQRankSum=2.121;QD=14.52;ReadPosRankSum=0.596;SB=-804.66;TI=NM_005262;GI=GFER;FC=Missense_F166L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,58:98:99:1453,0,815:52:99:0.592 chr16 2035999 rs1802834 C T 1568.80 PASS BaseQRankSum=1.033;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6522;MQ=55;MQ0=0;MQRankSum=0.868;QD=13.64;ReadPosRankSum=1.038;SB=-1162.24;TI=NM_005262;GI=GFER;FC=Synonymous_R196R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,68:115:99:1599,0,1004:55:99:0.591 chr16 2096377 rs3211970 G C 550.47 SB BaseQRankSum=-0.635;DP=23;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.033;QD=23.93;ReadPosRankSum=-0.100;SB=-0.01;TI=NM_002528;GI=NTHL1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,16:23:99:580,0,215:60:99:0.696 chr16 2108847 rs45517141 G A 1355.96 PASS BaseQRankSum=0.174;DP=128;Dels=0.00;FS=3.293;HRun=1;HaplotypeScore=9.1182;MQ=53;MQ0=0;MQRankSum=1.676;QD=10.59;ReadPosRankSum=-0.737;SB=-897.44;TI=NM_001077183,NM_001114382,NM_000548;GI=TSC2,TSC2,TSC2;FC=Synonymous_P316P,Synonymous_P316P,Synonymous_P316P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,62:128:99:1386,0,1517:53:99:0.484 chr16 2135299 rs45517354 C T 1863.27 PASS BaseQRankSum=1.168;DP=149;Dels=0.00;FS=1.315;HRun=0;HaplotypeScore=3.7602;MQ=53;MQ0=0;MQRankSum=1.491;QD=12.51;ReadPosRankSum=0.739;SB=-1144.42;TI=NM_001077183,NM_001114382,NM_000548;GI=TSC2,TSC2,TSC2;FC=Synonymous_A1479A,Synonymous_A1523A,Synonymous_A1546A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,77:149:99:1893,0,1668:53:99:0.517 chr16 2137857 rs45457095 C T 1743.09 PASS BaseQRankSum=-0.681;DP=150;Dels=0.00;FS=2.112;HRun=0;HaplotypeScore=8.9135;MQ=53;MQ0=0;MQRankSum=1.609;QD=11.62;ReadPosRankSum=-0.906;SB=-884.82;TI=NM_001077183,NM_001114382,NM_000548;GI=TSC2,TSC2,TSC2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,73:150:99:1773,0,1856:53:99:0.487 chr16 2138218 rs1800718 A C 4409.67 PASS BaseQRankSum=0.896;DP=145;Dels=0.00;FS=2.288;HRun=1;HaplotypeScore=16.2760;MQ=55;MQ0=0;MQRankSum=2.021;QD=30.41;ReadPosRankSum=-0.201;SB=-2373.70;TI=NM_001077183,NM_001114382,NM_000548;GI=TSC2,TSC2,TSC2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,142:145:99:4410,255,0:55:99:0.979 chr16 2138269 rs1748 T C 5372.83 PASS DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7984;MQ=55;MQ0=0;QD=31.24;SB=-3176.40;TI=NM_001077183,NM_001114382,NM_000548;GI=TSC2,TSC2,TSC2;FC=Synonymous_D1667D,Synonymous_D1711D,Synonymous_D1734D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:172:99:5373,397,0:55:99:1.000 chr16 2140010 rs7203729 A G 2503.45 PASS DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.0085;MQ=56;MQ0=0;QD=30.16;SB=-1139.32;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_P4209P,Synonymous_P4210P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2536,187,0:56:99:1.000 chr16 2140454 rs3087632 T C 4506.13 PASS BaseQRankSum=-0.965;DP=168;Dels=0.00;FS=3.284;HRun=0;HaplotypeScore=9.2229;MQ=51;MQ0=0;MQRankSum=-0.114;QD=26.82;ReadPosRankSum=-1.483;SB=-2972.91;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_A4091A,Synonymous_A4092A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,166:168:99:4506,287,0:51:99:0.994 chr16 2140680 rs10960 T C 2668.36 PASS BaseQRankSum=-1.319;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5927;MQ=56;MQ0=0;MQRankSum=-1.609;QD=31.39;ReadPosRankSum=0.681;SB=-1260.22;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Missense_I4044V,Missense_I4045V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,83:85:99:2701,132,0:56:99:0.976 chr16 2140972 rs77634115 G C 1663.28 PASS BaseQRankSum=-1.065;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0082;MQ=55;MQ0=0;MQRankSum=2.775;QD=10.40;ReadPosRankSum=1.857;SB=-1111.31;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_R3971R,Synonymous_R3972R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,73:160:99:1693,0,2163:55:99:0.456 chr16 2140978 . G A 1990.57 PASS BaseQRankSum=1.246;DP=159;Dels=0.00;FS=0.599;HRun=0;HaplotypeScore=7.0248;MQ=55;MQ0=0;MQRankSum=0.731;QD=12.52;ReadPosRankSum=-1.561;SB=-1357.02;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_R3969R,Synonymous_R3970R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,86:159:99:2021,0,1734:55:99:0.541 chr16 2144176 rs34197769 G A 1955.88 PASS BaseQRankSum=3.509;DP=169;Dels=0.00;FS=1.933;HRun=0;HaplotypeScore=6.5706;MQ=53;MQ0=0;MQRankSum=1.526;QD=11.57;ReadPosRankSum=-0.092;SB=-1365.33;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Missense_A3511V,Missense_A3512V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,83:169:99:1986,0,1995:53:99:0.494 chr16 2147338 . T C 2294.48 PASS BaseQRankSum=1.618;DP=175;Dels=0.00;FS=1.871;HRun=0;HaplotypeScore=10.0347;MQ=56;MQ0=0;MQRankSum=-0.673;QD=13.11;ReadPosRankSum=-0.682;SB=-1269.35;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Missense_K3462E,Missense_K3463E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,86:175:99:2324,0,2230:56:99:0.494 chr16 2147491 . G A 2191.41 PASS BaseQRankSum=2.232;DP=188;Dels=0.00;FS=1.873;HRun=0;HaplotypeScore=15.4474;MQ=56;MQ0=0;MQRankSum=2.864;QD=11.66;ReadPosRankSum=-0.367;SB=-1124.48;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Missense_P3411S,Missense_P3412S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,83:188:99:2221,0,2415:56:99:0.441 chr16 2152387 rs9925969;rs77028972 A G 379.03 PASS BaseQRankSum=-0.856;DP=37;Dels=0.00;FS=2.928;HRun=0;HaplotypeScore=0.8941;MQ=45;MQ0=1;MQRankSum=-0.729;QD=10.24;ReadPosRankSum=-2.155;SB=-197.46;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Missense_F3066L,Missense_F3066L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,17:37:99:409,0,525:45:99:0.459 chr16 2152388 rs55663903;rs78003543 C G 373.01 PASS BaseQRankSum=0.881;DP=39;Dels=0.00;FS=4.748;HRun=0;HaplotypeScore=0.8941;MQ=45;MQ0=1;MQRankSum=-0.851;QD=9.56;ReadPosRankSum=-1.350;SB=-192.08;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_V3065V,Synonymous_V3065V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,17:39:99:403,0,596:45:99:0.436 chr16 2156021 rs28575767 A G 570.55 PASS BaseQRankSum=2.968;DP=78;Dels=0.00;FS=4.209;HRun=0;HaplotypeScore=3.5489;MQ=47;MQ0=1;MQRankSum=-4.400;QD=7.31;ReadPosRankSum=0.242;SB=-111.24;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_L2570L,Synonymous_L2570L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,27:78:99:601,0,1455:47:99:0.346 chr16 2156447 rs2003782 G A 2879.75 PASS BaseQRankSum=0.399;DP=279;Dels=0.00;FS=0.959;HRun=1;HaplotypeScore=10.2695;MQ=51;MQ0=9;MQRankSum=-0.215;QD=10.32;ReadPosRankSum=2.270;SB=-1579.99;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_L2481L,Synonymous_L2481L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:154,124:279:99:2910,0,3705:51:99:0.446 chr16 2156850 rs2457533;rs56309739 A G 458.29 SB BaseQRankSum=0.439;DP=116;Dels=0.00;FS=17.731;HRun=1;HaplotypeScore=4.5737;MQ=40;MQ0=3;MQRankSum=-2.383;QD=3.95;ReadPosRankSum=-0.558;SB=-0.01;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_L2389L,Synonymous_L2389L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,27:116:99:488,0,1990:40:99:0.233 chr16 2158419 . G A 1846.40 PASS BaseQRankSum=0.850;DP=140;Dels=0.00;FS=1.387;HRun=0;HaplotypeScore=12.4852;MQ=53;MQ0=0;MQRankSum=2.070;QD=13.19;ReadPosRankSum=-0.214;SB=-1183.52;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Missense_T2250M,Missense_T2250M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,77:140:99:1876,0,1503:53:99:0.554 chr16 2159996 rs9935526;rs78093681 G A 3328.34 PASS BaseQRankSum=3.558;DP=223;Dels=0.01;FS=7.998;HRun=0;HaplotypeScore=19.0900;MQ=55;MQ0=9;MQRankSum=3.181;QD=14.93;ReadPosRankSum=-0.361;SB=-1614.19;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_A1724A,Synonymous_A1724A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,120:221:99:3328,0,2416:55:99:0.543 chr16 2160503 rs71385734 T G 4570.26 PASS BaseQRankSum=2.232;DP=340;Dels=0.00;FS=1.804;HRun=1;HaplotypeScore=13.8291;MQ=56;MQ0=0;MQRankSum=4.179;QD=13.44;ReadPosRankSum=0.609;SB=-2811.58;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_A1555A,Synonymous_A1555A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:157,181:340:99:4570,0,4032:56:99:0.536 chr16 2162361 rs2549677 A G 1299.68 PASS BaseQRankSum=0.033;DP=151;Dels=0.00;FS=0.665;HRun=0;HaplotypeScore=14.1248;MQ=44;MQ0=14;MQRankSum=-0.254;QD=8.61;ReadPosRankSum=0.406;SB=-777.43;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Missense_M1092T,Missense_M1092T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,61:151:99:1330,0,2016:44:99:0.404 chr16 2162408 rs2575316 C T 1855.31 PASS BaseQRankSum=0.514;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.8860;MQ=40;MQ0=24;MQRankSum=3.670;QD=12.62;ReadPosRankSum=1.023;SB=-917.31;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_P1076P,Synonymous_P1076P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,87:147:99:1885,0,1107:40:99:0.596 chr16 2162887 rs2369068 A G 1607.40 PASS BaseQRankSum=0.423;DP=142;Dels=0.00;FS=5.177;HRun=1;HaplotypeScore=5.5196;MQ=50;MQ0=0;MQRankSum=1.987;QD=11.32;ReadPosRankSum=0.660;SB=-776.03;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_G1021G,Synonymous_G1021G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,68:142:99:1637,0,1788:50:99:0.479 chr16 2164808 rs40433;rs55931801 C T 944.98 PASS DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5189;MQ=28;MQ0=2;QD=28.64;SB=-167.18;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Missense_R739Q,Missense_R739Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:87.24:978,87,0:28:87:1.000 chr16 2165630 rs35929659 T C 1794.23 PASS DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6510;MQ=42;MQ0=1;QD=24.25;SB=-523.94;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:74:99:1827,141,0:42:99:1.000 chr16 2167874 rs35842;rs16956190 G A 500.03 PASS DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7263;MQ=20;MQ0=18;QD=12.50;SB=-139.62;TI=NM_000296,NM_001009944;GI=PKD1,PKD1;FC=Synonymous_L373L,Synonymous_L373L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:17,23:40:51.07:533,51,0:20:51:0.575 chr16 2331430 rs149532 A G 4015.09 PASS DP=143;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.3882;MQ=50;MQ0=0;QD=28.08;SB=-2511.25;TI=NM_001089;GI=ABCA3;FC=Synonymous_S1372S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:143:99:4015,295,0:50:99:1.000 chr16 2347361 . G A 1075.26 PASS BaseQRankSum=1.418;DP=67;Dels=0.00;FS=3.963;HRun=0;HaplotypeScore=6.5662;MQ=55;MQ0=0;MQRankSum=0.719;QD=16.05;ReadPosRankSum=0.089;SB=-685.87;TI=NM_001089;GI=ABCA3;FC=Synonymous_C744C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,47:67:99:1105,0,441:55:99:0.701 chr16 2347515 . G A 732.77 PASS BaseQRankSum=2.033;DP=78;Dels=0.00;FS=1.915;HRun=1;HaplotypeScore=8.3025;MQ=55;MQ0=0;MQRankSum=-0.303;QD=9.39;ReadPosRankSum=-1.416;SB=-445.42;TI=NM_001089;GI=ABCA3;FC=Missense_S693L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,33:78:99:763,0,1085:55:99:0.423 chr16 2369592 . C T 273.95 PASS BaseQRankSum=0.354;DP=38;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.8764;MQ=58;MQ0=0;MQRankSum=0.451;QD=7.21;ReadPosRankSum=-1.030;SB=-28.61;TI=NM_001089;GI=ABCA3;FC=Missense_R288K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,11:38:99:304,0,875:58:99:0.289 chr16 2550475 . C T 911.59 PASS BaseQRankSum=0.067;DP=69;Dels=0.00;FS=0.921;HRun=0;HaplotypeScore=4.4914;MQ=55;MQ0=0;MQRankSum=0.599;QD=13.21;ReadPosRankSum=-0.648;SB=-577.37;TI=NM_001199107,NM_020705;GI=TBC1D24,TBC1D24;FC=Synonymous_S503S,Synonymous_S497S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,39:69:99:942,0,733:55:99:0.565 chr16 3188789 rs35931391 G A 2385.73 PASS BaseQRankSum=2.974;DP=183;Dels=0.00;FS=2.570;HRun=1;HaplotypeScore=4.6542;MQ=55;MQ0=0;MQRankSum=2.014;QD=13.04;ReadPosRankSum=1.911;SB=-1455.43;TI=NM_004220,NM_001134655;GI=ZNF213,ZNF213;FC=Synonymous_T189T,Synonymous_T189T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,93:183:99:2416,0,2251:55:99:0.508 chr16 3191356 rs2735537 G A 2411.31 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9000;MQ=54;MQ0=0;QD=29.77;SB=-659.66;TI=NM_004220,NM_001134655;GI=ZNF213,ZNF213;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:81:99:2444,184,0:54:99:1.000 chr16 3297073 rs224206 A G 1855.72 PASS DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5761;MQ=54;MQ0=0;QD=28.55;SB=-1097.32;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_D510D,Synonymous_D299D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:1889,138,0:54:99:1.000 chr16 3297175 rs224207 T C 3597.94 PASS DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=25.88;SB=-2643.36;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_Q476Q,Synonymous_Q265Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,139:139:99:3598,256,0:52:99:1.000 chr16 3297181 rs224208 C T 3628.03 PASS DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=26.48;SB=-2652.32;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_E474E,Synonymous_E263E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:3628,256,0:52:99:1.000 chr16 3299749 rs224213 G A 3683.46 PASS DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=31.22;SB=-1398.05;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_R314R,Synonymous_R103R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,117:118:99:3683,274,0:55:99:1.000 chr16 3304463 rs224222 C T 576.07 PASS BaseQRankSum=0.571;DP=43;Dels=0.00;FS=4.620;HRun=0;HaplotypeScore=1.7608;MQ=60;MQ0=0;MQRankSum=-1.008;QD=13.40;ReadPosRankSum=-1.178;SB=-22.75;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Missense_R202Q,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,21:43:99:606,0,650:60:99:0.488 chr16 3304573 rs224223 G T 710.74 PASS BaseQRankSum=1.584;DP=46;Dels=0.00;FS=4.599;HRun=0;HaplotypeScore=1.6988;MQ=56;MQ0=0;MQRankSum=1.896;QD=15.45;ReadPosRankSum=1.874;SB=-235.40;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_A165A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,27:46:99:741,0,520:56:99:0.587 chr16 3304654 rs224224 T C 683.38 PASS BaseQRankSum=1.452;DP=46;Dels=0.00;FS=4.250;HRun=2;HaplotypeScore=0.8321;MQ=56;MQ0=0;MQRankSum=2.127;QD=14.86;ReadPosRankSum=-1.452;SB=-413.23;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_G138G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,28:46:99:713,0,450:56:99:0.609 chr16 3304762 rs224225 A G 1341.20 PASS BaseQRankSum=2.016;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=50;MQ0=0;MQRankSum=2.001;QD=14.12;ReadPosRankSum=2.883;SB=-863.27;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_D102D,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,55:95:99:1371,0,903:50:99:0.579 chr16 3639139 rs3810812 A G 3531.81 PASS BaseQRankSum=2.426;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5904;MQ=48;MQ0=0;MQRankSum=1.411;QD=26.16;ReadPosRankSum=1.336;SB=-2463.36;TI=NM_032444;GI=SLX4;FC=Synonymous_N1500N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,132:135:99:3532,214,0:48:99:0.978 chr16 3640274 rs714181 G A 3778.07 PASS BaseQRankSum=1.741;DP=317;Dels=0.00;FS=3.132;HRun=0;HaplotypeScore=15.2948;MQ=54;MQ0=0;MQRankSum=3.171;QD=11.92;ReadPosRankSum=0.260;SB=-1739.89;TI=NM_032444;GI=SLX4;FC=Missense_P1122L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:170,147:317:99:3778,0,4253:54:99:0.464 chr16 3640477 rs76488917 C T 1516.68 PASS BaseQRankSum=-0.030;DP=103;Dels=0.00;FS=6.378;HRun=0;HaplotypeScore=8.5724;MQ=58;MQ0=0;MQRankSum=0.307;QD=14.73;ReadPosRankSum=-2.378;SB=-801.73;TI=NM_032444;GI=SLX4;FC=Synonymous_S1054S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,51:103:99:1547,0,1504:58:99:0.495 chr16 3647426 . T C 595.41 PASS BaseQRankSum=0.291;DP=50;Dels=0.00;FS=1.298;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-0.291;QD=11.91;ReadPosRankSum=0.446;SB=-207.43;TI=NM_032444;GI=SLX4;FC=Missense_Y546C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,25:50:99:625,0,696:58:99:0.500 chr16 3656482 rs8061528 C T 803.86 PASS BaseQRankSum=2.074;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9988;MQ=56;MQ0=0;MQRankSum=-0.550;QD=12.97;ReadPosRankSum=-1.157;SB=-399.37;TI=NM_032444;GI=SLX4;FC=Synonymous_A251A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,33:62:99:834,0,686:56:99:0.532 chr16 3656557 rs28516461 G A 1227.22 PASS BaseQRankSum=0.524;DP=134;Dels=0.00;FS=1.385;HRun=0;HaplotypeScore=1.7608;MQ=53;MQ0=0;MQRankSum=1.735;QD=9.16;ReadPosRankSum=0.565;SB=-875.44;TI=NM_032444;GI=SLX4;FC=Synonymous_H226H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,59:134:99:1257,0,1801:53:99:0.440 chr16 3707747 rs1053874 G A 2236.58 PASS BaseQRankSum=2.046;DP=204;Dels=0.00;FS=1.729;HRun=1;HaplotypeScore=15.5497;MQ=51;MQ0=0;MQRankSum=1.630;QD=10.96;ReadPosRankSum=0.664;SB=-1601.61;TI=NM_005223;GI=DNASE1;FC=Missense_R244Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,99:204:99:2267,0,2262:51:99:0.485 chr16 3778337 rs3751845 G A 1657.86 PASS BaseQRankSum=0.015;DP=109;Dels=0.00;FS=8.552;HRun=0;HaplotypeScore=2.8648;MQ=58;MQ0=0;MQRankSum=-0.676;QD=15.21;ReadPosRankSum=-0.482;SB=-373.81;TI=NM_004380,NM_001079846;GI=CREBBP,CREBBP;FC=Synonymous_P2237P,Synonymous_P2199P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,55:109:99:1688,0,1603:58:99:0.505 chr16 3795363 rs3025684 G A 982.85 PASS BaseQRankSum=-0.412;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5750;MQ=54;MQ0=0;MQRankSum=1.043;QD=10.57;ReadPosRankSum=-0.604;SB=-675.67;TI=NM_004380,NM_001079846;GI=CREBBP,CREBBP;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,44:93:99:1013,0,1185:54:99:0.473 chr16 3808052 . TA T 92.15 R8;SB BaseQRankSum=-0.988;DP=20;FS=0.000;HRun=13;HaplotypeScore=104.5629;MQ=55;MQ0=0;MQRankSum=0.000;QD=4.61;ReadPosRankSum=-1.140;SB=-0.00;TI=NM_004380,NM_001079846;GI=CREBBP,CREBBP;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,6:20:99:131,0,205:55:92:0.375 chr16 3819261 rs61731383 C T 1099.41 PASS BaseQRankSum=0.108;DP=122;Dels=0.01;FS=2.351;HRun=0;HaplotypeScore=18.8032;MQ=51;MQ0=0;MQRankSum=-1.892;QD=9.01;ReadPosRankSum=-1.614;SB=-817.60;TI=NM_004380,NM_001079846;GI=CREBBP,CREBBP;FC=Missense_V992I,Missense_V954I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,51:121:99:1129,0,1663:51:99:0.421 chr16 3860640 rs3025702 A G 1283.16 PASS BaseQRankSum=1.945;DP=132;Dels=0.00;FS=1.437;HRun=0;HaplotypeScore=2.8835;MQ=54;MQ0=0;MQRankSum=2.214;QD=9.72;ReadPosRankSum=0.810;SB=-758.64;TI=NM_004380,NM_001079846;GI=CREBBP,CREBBP;FC=Synonymous_D313D,Synonymous_D313D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,49:132:99:1313,0,2038:54:99:0.371 chr16 3900803 . C A 2150.51 PASS BaseQRankSum=1.115;DP=159;Dels=0.00;FS=2.930;HRun=0;HaplotypeScore=11.2865;MQ=57;MQ0=0;MQRankSum=-0.822;QD=13.53;ReadPosRankSum=0.384;SB=-1109.79;TI=NM_004380,NM_001079846;GI=CREBBP,CREBBP;FC=Missense_G98V,Missense_G98V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,82:159:99:2181,0,2156:57:99:0.516 chr16 4016676 rs2230742 A G 2664.04 PASS BaseQRankSum=0.126;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=1.324;QD=13.52;ReadPosRankSum=-0.111;SB=-1457.05;TI=NM_001116;GI=ADCY9;FC=Synonymous_H1054H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,100:197:99:2694,0,2537:52:99:0.508 chr16 4027605 rs2240735 C T 2187.48 PASS BaseQRankSum=-0.365;DP=214;Dels=0.00;FS=6.740;HRun=0;HaplotypeScore=17.1795;MQ=53;MQ0=0;MQRankSum=3.931;QD=10.22;ReadPosRankSum=2.221;SB=-1365.14;TI=NM_001116;GI=ADCY9;FC=Synonymous_A902A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,92:214:99:2217,0,3051:53:99:0.432 chr16 4033436 rs2230739 T C 1282.74 PASS BaseQRankSum=2.136;DP=92;Dels=0.00;FS=4.575;HRun=0;HaplotypeScore=4.5436;MQ=54;MQ0=0;MQRankSum=2.198;QD=13.94;ReadPosRankSum=1.027;SB=-316.86;TI=NM_001116;GI=ADCY9;FC=Missense_I772M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,46:92:99:1313,0,1164:54:99:0.500 chr16 4164364 rs2230738 C T 3867.33 PASS BaseQRankSum=3.094;DP=276;Dels=0.00;FS=1.515;HRun=0;HaplotypeScore=15.6244;MQ=57;MQ0=0;MQRankSum=1.189;QD=14.01;ReadPosRankSum=1.689;SB=-1585.89;TI=NM_001116;GI=ADCY9;FC=Synonymous_R360R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,140:276:99:3867,0,3660:57:99:0.507 chr16 4165432 rs2530898 T C 90.94 LowGQX;LowGQ;LowDP DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=15.16;SB=-78.45;TI=NM_001116;GI=ADCY9;FC=Synonymous_P4P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:9.03:123,9,0:56:9:1.000 chr16 4386814 rs669561 T C 6478.21 PASS DP=232;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5523;MQ=52;MQ0=0;QD=27.92;SB=-3324.08;TI=NM_032575;GI=GLIS2;FC=Synonymous_Y288Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,232:232:99:6478,467,0:52:99:1.000 chr16 4387261 rs3810817 A C 327.93 PASS BaseQRankSum=0.083;DP=31;Dels=0.00;FS=1.455;HRun=1;HaplotypeScore=5.3645;MQ=53;MQ0=0;MQRankSum=-1.078;QD=10.58;ReadPosRankSum=1.244;SB=-170.09;TI=NM_032575;GI=GLIS2;FC=Synonymous_A437A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,15:31:99:358,0,394:53:99:0.500 chr16 4833970 rs759991 C T 1847.72 PASS BaseQRankSum=-0.753;DP=142;Dels=0.00;FS=0.636;HRun=0;HaplotypeScore=11.0686;MQ=51;MQ0=0;MQRankSum=-0.604;QD=13.01;ReadPosRankSum=-1.073;SB=-1374.47;TI=NM_001154458,NM_144605;GI=SEPT12,SEPT12;FC=Silent,Synonymous_V158V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,84:142:99:1878,0,1297:51:99:0.592 chr16 4837545 rs9673735 A G 1434.48 PASS BaseQRankSum=3.081;DP=151;Dels=0.00;FS=2.085;HRun=1;HaplotypeScore=0.9998;MQ=51;MQ0=0;MQRankSum=1.511;QD=9.50;ReadPosRankSum=2.330;SB=-864.50;TI=NM_001154458,NM_144605;GI=SEPT12,SEPT12;FC=Synonymous_A34A,Synonymous_A34A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,63:151:99:1464,0,1902:51:99:0.417 chr16 5075542 rs887854 G A 759.50 PASS BaseQRankSum=1.490;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4357;MQ=55;MQ0=0;MQRankSum=1.553;QD=11.34;ReadPosRankSum=1.503;SB=-443.85;TI=NM_016256;GI=NAGPA;FC=Synonymous_N495N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,31:67:99:789,0,848:55:99:0.463 chr16 5075633 rs7188856 G A 1567.03 PASS BaseQRankSum=1.078;DP=165;Dels=0.00;FS=3.614;HRun=1;HaplotypeScore=4.6818;MQ=53;MQ0=0;MQRankSum=2.653;QD=9.50;ReadPosRankSum=0.123;SB=-1017.22;TI=NM_016256;GI=NAGPA;FC=Missense_T465I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,73:165:99:1597,0,2094:53:99:0.442 chr16 5083483 rs2972272 T C 509.63 PASS BaseQRankSum=1.286;DP=55;Dels=0.00;FS=5.850;HRun=2;HaplotypeScore=5.1858;MQ=57;MQ0=0;MQRankSum=1.863;QD=9.27;ReadPosRankSum=-1.199;SB=-165.98;TI=NM_016256;GI=NAGPA;FC=Synonymous_G111G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,20:55:99:540,0,836:57:99:0.364 chr16 5132636 rs1047732 C T 1923.18 PASS BaseQRankSum=1.159;DP=160;Dels=0.00;FS=0.610;HRun=2;HaplotypeScore=1.7882;MQ=50;MQ0=8;MQRankSum=1.459;QD=12.02;ReadPosRankSum=1.575;SB=-1287.65;TI=NM_019109;GI=ALG1;FC=Synonymous_F383F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,84:160:99:1953,0,1471:50:99:0.528 chr16 8839954 rs1731017 A G 1495.32 PASS BaseQRankSum=1.779;DP=115;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.3645;MQ=54;MQ0=0;MQRankSum=-0.436;QD=13.00;ReadPosRankSum=1.121;SB=-816.49;TI=NM_020686,NM_000663,NM_001127448;GI=ABAT,ABAT,ABAT;FC=Missense_Q56R,Missense_Q56R,Missense_Q56R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,63:115:99:1525,0,1230:54:99:0.548 chr16 8841960 rs1641010 T C 1040.35 PASS BaseQRankSum=0.823;DP=94;Dels=0.00;FS=3.893;HRun=2;HaplotypeScore=2.8455;MQ=53;MQ0=0;MQRankSum=3.164;QD=11.07;ReadPosRankSum=0.747;SB=-618.87;TI=NM_020686,NM_000663,NM_001127448;GI=ABAT,ABAT,ABAT;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,41:94:99:1070,0,1340:53:99:0.436 chr16 8868776 rs1641022 C A 3773.64 PASS DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6269;MQ=55;MQ0=0;QD=29.25;SB=-1871.20;TI=NM_020686,NM_000663,NM_001127448;GI=ABAT,ABAT,ABAT;FC=Synonymous_V328V,Synonymous_V328V,Synonymous_V328V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3774,274,0:55:99:1.000 chr16 9017061 . T TACAACGATGTGGGGGTTTGTAGTTGCATCATTTAA 10403.10 PASS DP=33;FS=0.000;HRun=0;HaplotypeScore=118.6195;MQ=29;MQ0=0;QD=315.25;SB=-760.71;TI=NM_003470;GI=USP7;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:17,10:33:99:10403,99,0:29:99:0.370 chr16 9916204 rs9806806 C G 1459.35 PASS BaseQRankSum=-0.146;DP=159;Dels=0.00;FS=1.295;HRun=0;HaplotypeScore=9.9982;MQ=51;MQ0=0;MQRankSum=2.681;QD=9.18;ReadPosRankSum=0.739;SB=-833.71;TI=NM_001134407,NM_000833,NM_001134408;GI=GRIN2A,GRIN2A,GRIN2A;FC=Synonymous_R695R,Synonymous_R695R,Synonymous_R695R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,63:159:99:1489,0,2215:51:99:0.399 chr16 9943666 rs8049651 C T 760.91 PASS BaseQRankSum=-0.676;DP=93;Dels=0.00;FS=0.799;HRun=1;HaplotypeScore=10.1652;MQ=50;MQ0=0;MQRankSum=-3.621;QD=8.18;ReadPosRankSum=0.204;SB=-545.01;TI=NM_001134407,NM_000833,NM_001134408;GI=GRIN2A,GRIN2A,GRIN2A;FC=Synonymous_L425L,Synonymous_L425L,Synonymous_L425L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,41:93:99:791,0,1182:50:99:0.446 chr16 10995933 rs8046121 A G 2288.34 PASS DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=50;MQ0=0;QD=26.30;SB=-1365.47;TI=NM_000246;GI=CIITA;FC=Missense_R174G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2321,166,0:50:99:1.000 chr16 11002904 rs2228238 G A 2283.75 PASS DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7774;MQ=52;MQ0=0;QD=28.91;SB=-938.53;TI=NM_000246;GI=CIITA;FC=Synonymous_T892T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2317,172,0:52:99:1.000 chr16 11002927 rs7197779 A G 2767.40 PASS DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7507;MQ=52;MQ0=0;QD=27.67;SB=-1365.58;TI=NM_000246;GI=CIITA;FC=Missense_Q900R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:100:99:2800,205,0:52:99:1.000 chr16 11016045 rs2229322 C T 1888.77 PASS BaseQRankSum=1.880;DP=172;Dels=0.00;FS=2.665;HRun=0;HaplotypeScore=10.8277;MQ=51;MQ0=0;MQRankSum=0.959;QD=10.98;ReadPosRankSum=1.475;SB=-1250.93;TI=NM_000246;GI=CIITA;FC=Synonymous_C1057C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,80:172:99:1919,0,2324:51:99:0.465 chr16 11374866 rs737008 G T 1550.02 PASS BaseQRankSum=2.517;DP=135;Dels=0.00;FS=6.398;HRun=0;HaplotypeScore=2.8638;MQ=53;MQ0=0;MQRankSum=2.499;QD=11.48;ReadPosRankSum=-0.438;SB=-891.94;TI=NM_002761;GI=PRM1;FC=Synonymous_R47R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,65:135:99:1580,0,1829:53:99:0.481 chr16 11642444 . CTT C,CT 1686.44 R8 BaseQRankSum=0.825;DP=94;FS=5.598;HaplotypeScore=262.7089;MQ=57;MQ0=0;MQRankSum=-0.022;QD=17.94;ReadPosRankSum=-1.671;SB=-867.57;TI=NM_004862,NM_001136473,NM_001136472,NR_024320;GI=LITAF,LITAF,LITAF,LITAF;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:16,17,0:94:99:1765,1134,1324,299,0,232:57:99:0.515 chr16 11642697 rs1198 A G 5288.03 PASS DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3512;MQ=56;MQ0=0;QD=29.06;SB=-3241.16;TI=NM_004862,NM_001136473,NM_001136472,NR_024320;GI=LITAF,LITAF,LITAF,LITAF;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,182:182:99:5288,391,0:56:99:1.000 chr16 11643054 rs13337025 C T 681.02 PASS BaseQRankSum=1.916;DP=58;Dels=0.00;FS=7.828;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=1.225;QD=11.74;ReadPosRankSum=1.005;SB=-176.18;TI=NM_004862,NM_001136473,NM_001136472,NR_024320;GI=LITAF,LITAF,LITAF,LITAF;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,25:58:99:711,0,945:55:99:0.431 chr16 11643072 rs13336723 G A 646.23 PASS BaseQRankSum=3.181;DP=56;Dels=0.00;FS=8.239;HRun=1;HaplotypeScore=4.3882;MQ=56;MQ0=0;MQRankSum=2.148;QD=11.54;ReadPosRankSum=2.565;SB=-145.41;TI=NM_004862,NM_001136473,NM_001136472,NR_024320;GI=LITAF,LITAF,LITAF,LITAF;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,23:56:99:676,0,912:56:99:0.411 chr16 11645626 rs61617938 T C 203.39 PASS BaseQRankSum=-0.172;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=-1.738;QD=6.16;ReadPosRankSum=-0.821;SB=-113.48;TI=NM_004862,NM_001136473,NM_001136472,NR_024320;GI=LITAF,LITAF,LITAF,LITAF;FC=Silent,Missense_S138G,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,11:33:99:233,0,627:51:99:0.333 chr16 11645629 rs57456743 G A 203.42 PASS BaseQRankSum=-0.172;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=-1.012;QD=6.16;ReadPosRankSum=-1.203;SB=-125.83;TI=NM_004862,NM_001136473,NM_001136472,NR_024320;GI=LITAF,LITAF,LITAF,LITAF;FC=Silent,Missense_R137C,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,11:33:99:233,0,625:51:99:0.333 chr16 11969724 rs33657 G C 2412.30 PASS BaseQRankSum=1.963;DP=208;Dels=0.00;FS=2.457;HRun=0;HaplotypeScore=0.9998;MQ=57;MQ0=0;MQRankSum=0.354;QD=11.60;ReadPosRankSum=0.880;SB=-1391.92;TI=NM_002094,NM_001130006,NM_001130007;GI=GSPT1,GSPT1,GSPT1;FC=Synonymous_V585V,Synonymous_V584V,Synonymous_V447V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,98:208:99:2442,0,3022:57:99:0.471 chr16 12009279 rs424518 A G 822.61 PASS DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=54;MQ0=0;QD=23.50;SB=-517.84;TI=NM_002094,NM_001130006,NM_001130007;GI=GSPT1,GSPT1,GSPT1;FC=Missense_V100A,Missense_V100A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:35:60.20:856,60,0:54:60:1.000 chr16 12009304 rs11544193 C A 420.56 PASS BaseQRankSum=1.359;DP=31;Dels=0.00;FS=3.151;HRun=0;HaplotypeScore=2.6777;MQ=54;MQ0=0;MQRankSum=0.061;QD=13.57;ReadPosRankSum=-1.399;SB=-319.38;TI=NM_002094,NM_001130006,NM_001130007;GI=GSPT1,GSPT1,GSPT1;FC=Missense_G92C,Missense_G92C,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,19:31:99:451,0,304:54:99:0.613 chr16 12009530 . CCCG C 109.55 R8;LowDP BaseQRankSum=-2.177;DP=19;FS=6.021;HRun=0;HaplotypeScore=83.0991;MQ=58;MQ0=0;MQRankSum=1.434;QD=5.77;ReadPosRankSum=-0.159;SB=-17.60;TI=NM_002094,NM_001130006,NM_001130007;GI=GSPT1,GSPT1,GSPT1;FC=1AA_Deletion,1AA_Deletion,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,5:19:99:149,0,497:58:99:0.357 chr16 14014240 rs762521 G A 1152.29 PASS BaseQRankSum=1.771;DP=71;Dels=0.00;FS=2.195;HRun=0;HaplotypeScore=7.0248;MQ=58;MQ0=0;MQRankSum=-0.018;QD=16.23;ReadPosRankSum=-2.500;SB=-409.11;TI=NM_005236;GI=ERCC4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,43:71:99:1182,0,752:58:99:0.606 chr16 14026007 rs254942 G A 4315.99 PASS BaseQRankSum=2.374;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6495;MQ=54;MQ0=0;MQRankSum=1.892;QD=26.48;ReadPosRankSum=-0.475;SB=-2740.58;TI=NM_005236;GI=ERCC4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,161:163:99:4316,307,0:54:99:0.988 chr16 14041958 rs1799801 T C 1977.21 PASS BaseQRankSum=0.593;DP=155;Dels=0.00;FS=1.295;HRun=1;HaplotypeScore=12.2279;MQ=56;MQ0=0;MQRankSum=1.418;QD=12.76;ReadPosRankSum=0.192;SB=-1121.55;TI=NM_005236;GI=ERCC4;FC=Synonymous_S835S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,76:155:99:2007,0,1739:56:99:0.497 chr16 15811023 rs1050163 C T 2607.73 PASS BaseQRankSum=0.342;DP=90;Dels=0.00;FS=2.612;HRun=0;HaplotypeScore=2.6548;MQ=55;MQ0=0;MQRankSum=1.382;QD=28.97;ReadPosRankSum=1.848;SB=-1012.91;TI=NM_001143979,NM_017668,NM_002474,NM_022844,NM_001040114,NM_001040113;GI=NDE1,NDE1,MYH11,MYH11,MYH11,MYH11;FC=Silent,Silent,Synonymous_L1826L,Synonymous_L1826L,Synonymous_L1833L,Synonymous_L1833L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,88:90:99:2641,157,0:55:99:0.978 chr16 15811062 rs1050162 C T 3384.33 PASS BaseQRankSum=1.648;DP=124;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.2717;MQ=53;MQ0=0;MQRankSum=1.704;QD=27.29;ReadPosRankSum=0.335;SB=-2131.38;TI=NM_001143979,NM_017668,NM_002474,NM_022844,NM_001040114,NM_001040113;GI=NDE1,NDE1,MYH11,MYH11,MYH11,MYH11;FC=Silent,Silent,Synonymous_K1813K,Synonymous_K1813K,Synonymous_K1820K,Synonymous_K1820K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,123:124:99:3384,247,0:53:99:0.992 chr16 15818141 rs2075511 A C 2525.58 PASS DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=53;MQ0=0;QD=27.45;SB=-1670.74;TI=NM_001143979,NM_017668,NM_002474,NM_022844,NM_001040114,NM_001040113;GI=NDE1,NDE1,MYH11,MYH11,MYH11,MYH11;FC=Silent,Silent,Synonymous_A1414A,Synonymous_A1414A,Synonymous_A1421A,Synonymous_A1421A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2559,181,0:53:99:1.000 chr16 15865472 rs4781689 G A 624.19 PASS BaseQRankSum=1.362;DP=49;Dels=0.00;FS=1.145;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=-0.619;QD=12.74;ReadPosRankSum=-0.186;SB=-270.33;TI=NM_002474,NM_022844,NM_001040114,NM_001040113;GI=MYH11,MYH11,MYH11,MYH11;FC=Synonymous_T329T,Synonymous_T329T,Synonymous_T336T,Synonymous_T336T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,25:49:99:654,0,532:54:99:0.521 chr16 16162019 rs35605 T C 8173.09 PASS DP=278;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.9917;MQ=56;MQ0=0;QD=29.40;SB=-3918.39;TI=NM_019900,NM_019899,NM_004996,NM_019898,NM_019862;GI=ABCC1,ABCC1,ABCC1,ABCC1,ABCC1;FC=Synonymous_L562L,Synonymous_L562L,Synonymous_L562L,Synonymous_L562L,Synonymous_L562L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,278:278:99:8173,593,0:56:99:1.000 chr16 16162039 rs8187858 C T 4568.12 PASS BaseQRankSum=0.612;DP=331;Dels=0.00;FS=0.413;HRun=0;HaplotypeScore=7.7972;MQ=55;MQ0=0;MQRankSum=1.603;QD=13.80;ReadPosRankSum=-0.169;SB=-2553.39;TI=NM_019900,NM_019899,NM_004996,NM_019898,NM_019862;GI=ABCC1,ABCC1,ABCC1,ABCC1,ABCC1;FC=Synonymous_Y568Y,Synonymous_Y568Y,Synonymous_Y568Y,Synonymous_Y568Y,Synonymous_Y568Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:140,190:331:99:4568,0,3434:55:99:0.576 chr16 16205449 rs3851716 G A 3709.80 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=32.26;SB=-1330.28;TI=NM_019900,NM_019899,NM_004996,NM_019898,NM_019862;GI=ABCC1,ABCC1,ABCC1,ABCC1,ABCC1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3710,277,0:56:99:1.000 chr16 16251599 rs2238472 C T 1617.47 PASS BaseQRankSum=1.811;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5485;MQ=55;MQ0=0;MQRankSum=1.031;QD=14.19;ReadPosRankSum=1.868;SB=-1129.01;TI=NM_001171;GI=ABCC6;FC=Missense_R1268Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,68:114:99:1647,0,1009:55:99:0.596 chr16 16271357 . T C 2713.30 PASS DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=25.12;SB=-1928.46;TI=NM_001171;GI=ABCC6;FC=Missense_M848V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:2746,193,0:54:99:1.000 chr16 16272670 rs7500834 T C 1861.27 PASS DP=69;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=26.97;SB=-1025.12;TI=NM_001171;GI=ABCC6;FC=Synonymous_G800G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:69:99:1894,135,0:55:99:1.000 chr16 16278863 rs8058694 G T 1201.40 PASS BaseQRankSum=1.537;DP=111;Dels=0.00;FS=2.606;HRun=1;HaplotypeScore=13.7328;MQ=52;MQ0=0;MQRankSum=2.626;QD=10.82;ReadPosRankSum=5.647;SB=-710.70;TI=NM_001171;GI=ABCC6;FC=Missense_H632Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,53:111:99:1231,0,1416:52:99:0.482 chr16 16278869 rs8058696 G C 1235.15 PASS BaseQRankSum=3.835;DP=111;Dels=0.00;FS=1.580;HRun=0;HaplotypeScore=14.6292;MQ=52;MQ0=0;MQRankSum=2.483;QD=11.13;ReadPosRankSum=6.031;SB=-717.33;TI=NM_001171;GI=ABCC6;FC=Synonymous_T630T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,53:111:99:1265,0,1310:52:99:0.477 chr16 16281007 rs12931472 A G 758.68 PASS BaseQRankSum=-0.860;DP=80;Dels=0.00;FS=3.051;HRun=1;HaplotypeScore=2.7829;MQ=54;MQ0=0;MQRankSum=0.977;QD=9.48;ReadPosRankSum=1.173;SB=-372.63;TI=NM_001171;GI=ABCC6;FC=Missense_V614A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,33:80:99:789,0,1095:54:99:0.413 chr16 16291871 rs9940089 G C 1246.76 PASS BaseQRankSum=-0.837;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1996;MQ=51;MQ0=0;MQRankSum=0.372;QD=14.17;ReadPosRankSum=-1.615;SB=-636.71;TI=NM_001171;GI=ABCC6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,51:88:99:1277,0,865:51:99:0.580 chr16 16291971 rs9940825 C T 1210.79 PASS BaseQRankSum=1.271;DP=90;Dels=0.00;FS=1.761;HRun=0;HaplotypeScore=7.4725;MQ=55;MQ0=0;MQRankSum=0.345;QD=13.45;ReadPosRankSum=0.158;SB=-692.16;TI=NM_001171;GI=ABCC6;FC=Synonymous_V415V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,50:90:99:1241,0,944:55:99:0.556 chr16 16291983 rs9930886 A G 1222.51 PASS BaseQRankSum=-0.054;DP=89;Dels=0.00;FS=4.053;HRun=1;HaplotypeScore=4.7120;MQ=54;MQ0=0;MQRankSum=0.552;QD=13.74;ReadPosRankSum=-1.082;SB=-633.64;TI=NM_001171;GI=ABCC6;FC=Synonymous_N411N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,51:89:99:1253,0,920:54:99:0.573 chr16 16302586 rs72657698;rs78629019 T C 311.52 PASS BaseQRankSum=1.738;DP=125;Dels=0.00;FS=2.201;HRun=2;HaplotypeScore=2.8317;MQ=45;MQ0=5;MQRankSum=-4.504;QD=2.49;ReadPosRankSum=1.105;SB=-58.90;TI=NM_001171;GI=ABCC6;FC=Unknown_265;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,30:125:99:342,0,2588:45:99:0.240 chr16 16313545 rs55778939 C T 431.85 PASS BaseQRankSum=3.043;DP=217;Dels=0.00;FS=3.185;HRun=0;HaplotypeScore=2.6274;MQ=14;MQ0=127;MQRankSum=-1.050;QD=1.99;ReadPosRankSum=0.589;SB=-125.12;TI=NM_001171;GI=ABCC6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:151,66:217:99:462,0,879:14:99:0.304 chr16 17228368 rs12708815 G A 1815.63 PASS BaseQRankSum=2.312;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6544;MQ=54;MQ0=0;MQRankSum=1.777;QD=13.65;ReadPosRankSum=0.642;SB=-893.55;TI=NM_022166;GI=XYLT1;FC=Synonymous_A663A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,69:133:99:1846,0,1488:54:99:0.519 chr16 18823192 rs2291662 A G 883.44 PASS BaseQRankSum=2.840;DP=86;Dels=0.00;FS=2.044;HRun=0;HaplotypeScore=4.5761;MQ=58;MQ0=0;MQRankSum=0.428;QD=10.27;ReadPosRankSum=0.570;SB=-371.68;TI=NM_015092;GI=SMG1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,34:86:99:913,0,1477:58:99:0.395 chr16 18823379 rs2606556 T C 3168.07 PASS DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6394;MQ=56;MQ0=0;QD=29.61;SB=-1357.84;TI=NM_015092;GI=SMG1;FC=Synonymous_Q3564Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:107:99:3201,235,0:56:99:1.000 chr16 18839362 rs12445870 T C 2458.97 PASS BaseQRankSum=3.709;DP=198;Dels=0.00;FS=3.284;HRun=0;HaplotypeScore=1.9996;MQ=55;MQ0=0;MQRankSum=2.580;QD=12.42;ReadPosRankSum=-0.964;SB=-1422.02;TI=NM_015092;GI=SMG1;FC=Synonymous_A3244A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,106:198:99:2489,0,2204:55:99:0.535 chr16 18839496 rs12448649 G C 2480.65 PASS BaseQRankSum=1.793;DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.7343;MQ=55;MQ0=0;MQRankSum=2.693;QD=11.93;ReadPosRankSum=2.041;SB=-1699.98;TI=NM_015092;GI=SMG1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,103:208:99:2511,0,2401:55:99:0.498 chr16 18847416 rs3816919 G A 2214.73 PASS BaseQRankSum=1.006;DP=152;Dels=0.00;FS=3.883;HRun=0;HaplotypeScore=9.2685;MQ=57;MQ0=0;MQRankSum=1.685;QD=14.57;ReadPosRankSum=-0.468;SB=-1203.61;TI=NM_015092;GI=SMG1;FC=Synonymous_S2632S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,85:152:99:2245,0,1627:57:99:0.559 chr16 18853744 rs12926959 T C 2311.95 PASS BaseQRankSum=3.146;DP=189;Dels=0.00;FS=7.507;HRun=0;HaplotypeScore=6.3539;MQ=55;MQ0=0;MQRankSum=0.831;QD=12.23;ReadPosRankSum=-1.505;SB=-851.93;TI=NM_015092;GI=SMG1;FC=Synonymous_K2084K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,84:189:99:2342,0,2816:55:99:0.444 chr16 18861335 rs2650613 A G 2337.77 PASS DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=29.22;SB=-1046.24;TI=NM_015092;GI=SMG1;FC=Synonymous_H1799H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2371,172,0:57:99:1.000 chr16 18872050 rs34999885;rs62046312 C T 466.27 PASS BaseQRankSum=0.679;DP=56;Dels=0.00;FS=2.496;HRun=1;HaplotypeScore=2.8937;MQ=49;MQ0=4;MQRankSum=0.450;QD=8.33;ReadPosRankSum=0.105;SB=-273.37;TI=NM_015092;GI=SMG1;FC=Synonymous_Q1248Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,25:56:99:496,0,833:49:99:0.455 chr16 18900862 rs2521547;rs35006309 A G 13.03 LowVariantFreq;SB BaseQRankSum=0.822;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=8;MQ0=116;MQRankSum=0.639;QD=0.10;ReadPosRankSum=-0.274;SB=-0.01;TI=NM_015092;GI=SMG1;FC=Synonymous_L218L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,14:130:42.80:43,0,188:8:13:0.108 chr16 18907429 rs12929100;rs59292089 G T 452.74 PASS BaseQRankSum=-1.036;DP=88;Dels=0.00;FS=2.861;HRun=1;HaplotypeScore=2.6823;MQ=24;MQ0=26;MQRankSum=0.625;QD=5.14;ReadPosRankSum=-0.241;SB=-251.76;TI=NM_015092;GI=SMG1;FC=Synonymous_T119T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,30:88:99:483,0,652:24:99:0.341 chr16 18908104 . A AAT 619.97 PASS BaseQRankSum=-0.736;DP=57;FS=6.938;HRun=0;HaplotypeScore=14.5401;MQ=53;MQ0=6;MQRankSum=0.342;QD=10.88;ReadPosRankSum=-1.275;SB=-94.22;TI=NM_015092;GI=SMG1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,19:49:99:659,0,1262:53:99:0.333 chr16 20043330 rs2147865 T C 254.80 LowDP BaseQRankSum=1.139;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.054;QD=15.92;ReadPosRankSum=1.139;SB=-139.55;TI=NM_001002911;GI=GPR139;FC=Synonymous_V263V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,10:16:99:285,0,195:58:99:0.625 chr16 20328685 rs1129818 T C 1534.64 PASS BaseQRankSum=3.089;DP=145;Dels=0.00;FS=2.113;HRun=0;HaplotypeScore=8.3283;MQ=56;MQ0=0;MQRankSum=0.568;QD=10.58;ReadPosRankSum=0.717;SB=-834.49;TI=NM_001007240,NM_001007241,NM_001007242,NM_001502;GI=GP2,GP2,GP2,GP2;FC=Synonymous_Q425Q,Synonymous_Q278Q,Synonymous_Q275Q,Synonymous_Q422Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,63:145:99:1565,0,2041:56:99:0.438 chr16 20335325 rs12930599 G A 2725.52 PASS BaseQRankSum=3.539;DP=166;Dels=0.00;FS=0.595;HRun=0;HaplotypeScore=11.3190;MQ=57;MQ0=0;MQRankSum=1.644;QD=16.42;ReadPosRankSum=0.924;SB=-1638.64;TI=NM_001007240,NM_001007241,NM_001007242,NM_001502;GI=GP2,GP2,GP2,GP2;FC=Synonymous_D116D,Silent,Silent,Synonymous_D116D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,98:166:99:2756,0,1703:57:99:0.594 chr16 20360101 rs7193058 G A 3708.67 PASS DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8062;MQ=55;MQ0=0;QD=33.41;SB=-1171.71;TI=NM_003361,NM_001008389;GI=UMOD,UMOD;FC=Synonymous_C174C,Synonymous_C174C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,111:111:99:3709,280,0:55:99:1.000 chr16 20552075 rs16970280 G T 2499.64 PASS DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=25.00;SB=-1714.74;TI=NM_182617,NM_001105069;GI=ACSM2B,ACSM2B;FC=Synonymous_I510I,Synonymous_I510I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:100:99:2533,178,0:52:99:1.000 chr16 20570661 rs8056693;rs62035059 T C 2073.60 PASS BaseQRankSum=1.632;DP=108;Dels=0.00;FS=3.590;HRun=0;HaplotypeScore=5.4719;MQ=27;MQ0=37;MQRankSum=-1.381;QD=19.20;ReadPosRankSum=-1.582;SB=-905.98;TI=NM_182617,NM_001105069;GI=ACSM2B,ACSM2B;FC=Missense_I96V,Missense_I96V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,105:108:99:2107,157,0:27:99:0.991 chr16 20792188 rs5715 T C 1098.17 PASS BaseQRankSum=-1.443;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8773;MQ=57;MQ0=0;MQRankSum=-0.035;QD=11.81;ReadPosRankSum=-0.519;SB=-573.81;TI=NM_202000,NM_005622,NM_080663;GI=ACSM3,ACSM3,ERI2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,44:93:99:1128,0,1294:57:99:0.473 chr16 21281102 . T C 5.96 LowGQX;LowVariantFreq;SB BaseQRankSum=-3.023;DP=38;Dels=0.00;FS=15.101;HRun=4;HaplotypeScore=20.0612;MQ=42;MQ0=0;MQRankSum=-1.727;QD=0.16;ReadPosRankSum=1.123;SB=-0.01;TI=NM_001888,NM_001014444;GI=CRYM,CRYM;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,5:38:34.69:35,0,938:42:6:0.132 chr16 21730449 rs215901 C T 3800.48 PASS DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4678;MQ=52;MQ0=0;QD=28.15;SB=-1956.36;TI=NM_144672,NM_001161683,NM_170664;GI=OTOA,OTOA,OTOA;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,135:135:99:3800,271,0:52:99:1.000 chr16 22269867 rs4783453 A G 5899.26 PASS DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8063;MQ=51;MQ0=0;QD=26.69;SB=-3883.25;TI=NM_013302;GI=EEF2K;FC=Missense_Q361R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,221:221:99:5899,421,0:51:99:1.000 chr16 23457290 rs71379679 TA T 89.49 LowVariantFreq;R8 BaseQRankSum=0.153;DP=47;FS=5.322;HRun=17;HaplotypeScore=296.1269;MQ=49;MQ0=0;MQRankSum=-0.115;QD=1.90;ReadPosRankSum=-0.882;SB=-51.95;TI=NM_153603;GI=COG7;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,7:47:99:129,0,228:49:89:0.194 chr16 23536684 rs6497671 T C 5279.17 PASS DP=194;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8907;MQ=53;MQ0=0;QD=27.21;SB=-3683.76;TI=NM_001083614,NR_003501;GI=EARS2,EARS2;FC=Missense_S457G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,194:194:99:5279,376,0:53:99:1.000 chr16 23541223 rs2072061 G A 4393.02 PASS DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0088;MQ=56;MQ0=0;QD=29.68;SB=-2092.07;TI=NM_001083614,NR_003501;GI=EARS2,EARS2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:148:99:4393,322,0:56:99:1.000 chr16 23546561 rs2073951 G C 3492.18 PASS DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=55;MQ0=0;QD=28.62;SB=-2105.27;TI=NM_001083614,NR_003501;GI=EARS2,EARS2;FC=Synonymous_V202V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3492,256,0:55:99:1.000 chr16 23563501 rs7187920 C T 6335.44 PASS DP=232;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7796;MQ=51;MQ0=0;QD=27.31;SB=-4196.35;TI=NM_001083614,NR_003501;GI=EARS2,EARS2;FC=Synonymous_A88A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,232:232:99:6335,457,0:51:99:1.000 chr16 23847575 rs75964872 C A 1366.67 PASS BaseQRankSum=0.698;DP=137;Dels=0.00;FS=0.664;HRun=0;HaplotypeScore=4.6351;MQ=50;MQ0=0;MQRankSum=0.681;QD=9.98;ReadPosRankSum=-1.676;SB=-789.76;TI=NM_002738,NM_212535;GI=PRKCB,PRKCB;FC=Synonymous_R27R,Synonymous_R27R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,62:137:99:1397,0,1759:50:99:0.453 chr16 24166130 rs432998 T C 1229.63 PASS BaseQRankSum=3.209;DP=116;Dels=0.00;FS=2.378;HRun=2;HaplotypeScore=1.8100;MQ=52;MQ0=0;MQRankSum=2.256;QD=10.60;ReadPosRankSum=2.727;SB=-779.28;TI=NM_002738,NM_212535;GI=PRKCB,PRKCB;FC=Synonymous_P397P,Synonymous_P397P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,53:116:99:1260,0,1493:52:99:0.457 chr16 24202458 rs3729904 C T 968.10 PASS BaseQRankSum=-0.364;DP=72;Dels=0.00;FS=0.917;HRun=0;HaplotypeScore=2.7581;MQ=57;MQ0=0;MQRankSum=-0.205;QD=13.45;ReadPosRankSum=-1.103;SB=-546.38;TI=NM_002738,NM_212535;GI=PRKCB,PRKCB;FC=Synonymous_G590G,Synonymous_G590G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,41:72:99:998,0,754:57:99:0.569 chr16 24888593 rs8052587 A G 2990.45 PASS BaseQRankSum=0.452;DP=273;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.5691;MQ=55;MQ0=0;MQRankSum=1.491;QD=10.95;ReadPosRankSum=-1.186;SB=-2147.53;TI=NM_052944;GI=SLC5A11;FC=Synonymous_A164A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:133,140:273:99:3020,0,3038:55:99:0.513 chr16 24895361 rs72770465 C T 1269.29 PASS BaseQRankSum=0.076;DP=109;Dels=0.00;FS=0.706;HRun=1;HaplotypeScore=5.5674;MQ=52;MQ0=0;MQRankSum=0.706;QD=11.64;ReadPosRankSum=0.312;SB=-917.77;TI=NM_052944;GI=SLC5A11;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,55:109:99:1299,0,1174:52:99:0.505 chr16 24902194 rs274081 T C 3172.78 PASS DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3776;MQ=55;MQ0=0;QD=30.22;SB=-1255.23;TI=NM_052944;GI=SLC5A11;FC=Synonymous_F223F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:105:99:3206,238,0:55:99:1.000 chr16 27353479 rs17548704 C T 1323.16 PASS BaseQRankSum=0.240;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1711;MQ=52;MQ0=0;MQRankSum=2.503;QD=12.37;ReadPosRankSum=0.695;SB=-670.45;TI=NM_001008699,NM_000418;GI=IL4R,IL4R;FC=Synonymous_S36S,Synonymous_S36S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,55:107:99:1353,0,1189:52:99:0.514 chr16 27356203 rs1805010 A G 426.43 PASS BaseQRankSum=1.463;DP=30;Dels=0.00;FS=3.315;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-0.947;QD=14.21;ReadPosRankSum=-0.732;SB=-283.02;TI=NM_001008699,NM_000418;GI=IL4R,IL4R;FC=Missense_I75V,Missense_I75V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,19:30:99:456,0,269:53:99:0.633 chr16 27373833 rs6413500 C T 851.24 PASS BaseQRankSum=1.466;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2144;MQ=58;MQ0=0;MQRankSum=0.006;QD=11.99;ReadPosRankSum=-0.052;SB=-329.23;TI=NM_000418;GI=IL4R;FC=Missense_S387L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,35:71:99:881,0,1095:58:99:0.493 chr16 27414502 . G A 1384.07 PASS BaseQRankSum=0.015;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5691;MQ=52;MQ0=0;MQRankSum=0.299;QD=12.82;ReadPosRankSum=0.213;SB=-945.30;TI=NM_181078,NM_181079;GI=IL21R,IL21R;FC=Silent,Missense_R4H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,58:108:99:1414,0,1164:52:99:0.537 chr16 28488943 rs77595156 T C 1707.40 PASS BaseQRankSum=0.753;DP=111;Dels=0.00;FS=1.592;HRun=0;HaplotypeScore=3.5489;MQ=55;MQ0=0;MQRankSum=2.242;QD=15.38;ReadPosRankSum=0.276;SB=-1081.61;TI=NM_000086,NM_001042432;GI=CLN3,CLN3;FC=Missense_H404R,Missense_H404R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,67:111:99:1737,0,969:55:99:0.609 chr16 28617485 rs1801030;rs45543439 C T 516.27 PASS DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=45;MQ0=0;QD=23.47;SB=-208.98;TI=NM_177534,NM_177530,NM_177536,NM_177529,NM_001055;GI=SULT1A1,SULT1A1,SULT1A1,SULT1A1,SULT1A1;FC=Missense_V223M,Missense_V223M,Missense_V145M,Missense_V223M,Missense_V223M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,20:22:42.12:549,42,0:45:42:1.000 chr16 28617514 rs1042028;rs9282861;rs45583638 C T 386.02 LowDP DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=46;MQ0=0;QD=29.69;SB=-110.35;TI=NM_177534,NM_177530,NM_177536,NM_177529,NM_001055;GI=SULT1A1,SULT1A1,SULT1A1,SULT1A1,SULT1A1;FC=Missense_R213H,Missense_R213H,Missense_R135H,Missense_R213H,Missense_R213H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,13:13:33.09:419,33,0:46:33:1.000 chr16 28617552 rs1126466;rs3176926;rs35906658 C G 138.03 LowGQ;LowDP DP=6;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=23.00;SB=-40.65;TI=NM_177534,NM_177530,NM_177536,NM_177529,NM_001055;GI=SULT1A1,SULT1A1,SULT1A1,SULT1A1,SULT1A1;FC=Synonymous_P200P,Synonymous_P200P,Synonymous_P122P,Synonymous_P200P,Synonymous_P200P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:15.01:171,15,0:52:15:1.000 chr16 28618071 rs3020805 C G 904.88 PASS DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6611;MQ=38;MQ0=0;QD=28.28;SB=-345.43;TI=NM_177534,NM_177530,NM_177536,NM_177529,NM_001055;GI=SULT1A1,SULT1A1,SULT1A1,SULT1A1,SULT1A1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,31:32:81.19:938,81,0:38:81:1.000 chr16 28619911 rs1126447 T C 4281.97 PASS DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4581;MQ=57;MQ0=3;QD=31.49;SB=-1884.19;TI=NM_177534,NM_177530,NM_177536,NM_177529,NM_001055;GI=SULT1A1,SULT1A1,SULT1A1,SULT1A1,SULT1A1;FC=Synonymous_V54V,Synonymous_V54V,Silent,Synonymous_V54V,Synonymous_V54V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,136:136:99:4282,325,0:57:99:1.000 chr16 28619920 rs1126446 A G 4246.77 PASS DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0415;MQ=57;MQ0=3;QD=31.00;SB=-1950.57;TI=NM_177534,NM_177530,NM_177536,NM_177529,NM_001055;GI=SULT1A1,SULT1A1,SULT1A1,SULT1A1,SULT1A1;FC=Synonymous_T51T,Synonymous_T51T,Silent,Synonymous_T51T,Synonymous_T51T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:4247,316,0:57:99:1.000 chr16 28620025 rs12924616 T C 38.51 LowVariantFreq;SB BaseQRankSum=2.896;DP=246;Dels=0.00;FS=41.849;HRun=1;HaplotypeScore=9.9622;MQ=52;MQ0=5;MQRankSum=-2.117;QD=0.16;ReadPosRankSum=-3.108;SB=-0.01;TI=NM_177534,NM_177530,NM_177536,NM_177529,NM_001055;GI=SULT1A1,SULT1A1,SULT1A1,SULT1A1,SULT1A1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:222,24:246:68.50:69,0,6367:52:39:0.098 chr16 28883241 rs7498665 A G 2595.16 PASS DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.4757;MQ=49;MQ0=0;QD=33.27;SB=-303.07;TI=NM_001145795,NM_001145796,NM_001145797,NM_001145812,NM_015503;GI=SH2B1,SH2B1,SH2B1,SH2B1,SH2B1;FC=Missense_T484A,Missense_T484A,Missense_T484A,Missense_T484A,Missense_T484A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:78:99:2628,208,0:49:99:1.000 chr16 28898793 rs6565259 T C 1765.73 PASS DP=62;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8936;MQ=54;MQ0=0;QD=28.48;SB=-1068.49;TI=NM_173201,NM_004320;GI=ATP2A1,ATP2A1;FC=Synonymous_T226T,Synonymous_T226T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,62:62:99:1799,132,0:54:99:1.000 chr16 28909627 . C T 1138.83 PASS BaseQRankSum=-0.085;DP=107;Dels=0.00;FS=0.714;HRun=0;HaplotypeScore=5.5057;MQ=51;MQ0=0;MQRankSum=-1.731;QD=10.64;ReadPosRankSum=-0.978;SB=-771.54;TI=NM_173201,NM_004320;GI=ATP2A1,ATP2A1;FC=Missense_P540L,Missense_P540L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,50:107:99:1169,0,1460:51:99:0.472 chr16 28915527 rs10499 G A 1376.31 PASS BaseQRankSum=2.294;DP=135;Dels=0.00;FS=1.363;HRun=1;HaplotypeScore=5.4599;MQ=52;MQ0=0;MQRankSum=2.241;QD=10.19;ReadPosRankSum=0.359;SB=-925.73;TI=NM_173201,NM_004320;GI=ATP2A1,ATP2A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,64:135:99:1406,0,1485:52:99:0.474 chr16 28944396 rs2904880 C G 899.94 PASS BaseQRankSum=3.058;DP=116;Dels=0.00;FS=0.737;HRun=0;HaplotypeScore=7.3306;MQ=55;MQ0=0;MQRankSum=-0.892;QD=7.76;ReadPosRankSum=-1.914;SB=-580.80;TI=NM_001770,NM_001178098;GI=CD19,CD19;FC=Missense_L174V,Missense_L174V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,40:116:99:930,0,1842:55:99:0.345 chr16 29472811 rs1975350 A G 58.13 SB BaseQRankSum=-0.406;DP=278;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=5;MQ0=272;MQRankSum=-1.537;QD=0.21;ReadPosRankSum=0.406;SB=-0.01;TI=NR_037609,NR_037608,NM_001017389,NM_003166,NM_177552,NM_001017390;GI=SLX1B-SULT1A4,SLX1A-SULT1A3,SULT1A4,SULT1A3,SULT1A3,SULT1A4;FC=Silent,Silent,Synonymous_Q35Q,Synonymous_Q35Q,Synonymous_Q35Q,Synonymous_Q35Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,187:278:88.13:88,0,100:5:58:0.675 chr16 29811319 rs235648 C T 2816.61 PASS DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=52;MQ0=0;QD=26.57;SB=-1927.28;TI=NM_007317;GI=KIF22;FC=Synonymous_I410I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:106:99:2850,208,0:52:99:1.000 chr16 29814234 rs2450399 G A 2285.56 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=26.58;SB=-1424.18;TI=NM_007317;GI=KIF22;FC=Synonymous_V475V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2319,166,0:54:99:1.000 chr16 29825126 rs11150573 T C 2867.86 PASS BaseQRankSum=1.625;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.2148;MQ=57;MQ0=0;MQRankSum=1.411;QD=29.57;ReadPosRankSum=-0.268;SB=-1452.01;TI=NM_145239;GI=PRRT2;FC=Synonymous_L251L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,96:97:99:2901,214,0:57:99:0.990 chr16 29891206 . C T 287.83 PASS BaseQRankSum=0.146;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58;MQ0=0;MQRankSum=-0.029;QD=11.99;ReadPosRankSum=0.439;SB=-31.62;TI=NM_001114099,NM_001114100,NM_201575,NM_012410;GI=SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2;FC=Missense_D448N,Missense_D404N,Missense_D518N,Missense_D448N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,10:24:99:318,0,477:58:99:0.417 chr16 29908433 rs11649499 C G 254.71 LowDP BaseQRankSum=0.000;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=0.272;QD=14.15;ReadPosRankSum=1.449;SB=-107.98;TI=NM_001114099,NM_001114100,NM_201575,NM_012410;GI=SEZ6L2,SEZ6L2,SEZ6L2,SEZ6L2;FC=Silent,Missense_R74P,Missense_R74P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,11:18:99:285,0,200:52:99:0.611 chr16 30018500 rs3935873 C T 3047.07 PASS DP=95;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.2011;MQ=55;MQ0=0;QD=32.07;SB=-1726.51;TI=NM_003586;GI=DOC2A;FC=Synonymous_Q216Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:3080,232,0:55:99:1.000 chr16 30021402 rs1140239 C T 1986.73 PASS DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9634;MQ=57;MQ0=0;QD=28.79;SB=-965.84;TI=NM_003586;GI=DOC2A;FC=Missense_G48S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:2020,153,0:57:99:1.000 chr16 30212154 rs1975350 A G 61.15 SB BaseQRankSum=0.358;DP=302;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=4;MQ0=297;MQRankSum=0.358;QD=0.20;ReadPosRankSum=-1.231;SB=-0.01;TI=NR_037609,NR_037608,NM_001017389,NM_003166,NM_001017390,NM_177552;GI=SLX1B-SULT1A4,SLX1A-SULT1A3,SULT1A4,SULT1A3,SULT1A4,SULT1A3;FC=Silent,Silent,Synonymous_Q35Q,Synonymous_Q35Q,Synonymous_Q35Q,Synonymous_Q35Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,194:302:53.90:91,0,54:4:54:0.647 chr16 30724070 rs4889500 G T 2153.17 PASS DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=29.10;SB=-1324.36;TI=NM_006662;GI=SRCAP;FC=Synonymous_R688R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:74:99:2186,157,0:54:99:1.000 chr16 30734963 rs4889502 C A 3755.40 PASS BaseQRankSum=1.656;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0242;MQ=53;MQ0=0;MQRankSum=1.579;QD=27.21;ReadPosRankSum=-0.790;SB=-2583.99;TI=NM_006662;GI=SRCAP;FC=Synonymous_S1406S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,135:138:99:3755,254,0:53:99:0.993 chr16 30910858 . A G 33.42 SB;LowDP BaseQRankSum=-1.395;DP=18;Dels=0.11;FS=12.175;HRun=1;HaplotypeScore=25.5175;MQ=39;MQ0=0;MQRankSum=-1.880;QD=1.86;ReadPosRankSum=1.637;SB=-0.01;TI=NM_001330,NM_001142544;GI=CTF1,CTF1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,4:16:63.42:63,0,255:39:33:0.250 chr16 30910860 . T G 83.45 SB;LowDP BaseQRankSum=-1.859;DP=17;Dels=0.00;FS=11.553;HRun=3;HaplotypeScore=23.6484;MQ=40;MQ0=0;MQRankSum=-2.362;QD=4.91;ReadPosRankSum=2.161;SB=-0.01;TI=NM_001330,NM_001142544;GI=CTF1,CTF1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,6:17:99:113,0,280:40:83:0.353 chr16 31191482 rs929867 A G 3272.81 PASS DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=52;MQ0=0;QD=27.97;SB=-2008.83;TI=NR_028388,NM_004960,NM_001170634,NM_001170937;GI=FUS,FUS,FUS,FUS;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,117:117:99:3273,235,0:52:99:1.000 chr16 31193942 rs741810 C A 2089.60 PASS BaseQRankSum=-1.446;DP=183;Dels=0.00;FS=3.380;HRun=0;HaplotypeScore=2.6823;MQ=53;MQ0=0;MQRankSum=-0.401;QD=11.42;ReadPosRankSum=0.035;SB=-1268.06;TI=NR_028388,NM_004960,NM_001170634,NM_001170937;GI=FUS,FUS,FUS,FUS;FC=Silent,Synonymous_G49G,Synonymous_G49G,Synonymous_G49G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,88:183:99:2120,0,2487:53:99:0.484 chr16 31203529 rs4889537 G C 3395.00 PASS BaseQRankSum=0.707;DP=297;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2249;MQ=54;MQ0=0;MQRankSum=0.602;QD=11.43;ReadPosRankSum=1.584;SB=-1922.14;TI=NR_028388,NM_004960,NM_001170634,NM_001170937;GI=FUS,FUS,FUS,FUS;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:157,140:297:99:3395,0,4049:54:99:0.471 chr16 31204235 rs11860134 T C 7856.95 PASS DP=257;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.9409;MQ=55;MQ0=0;QD=30.57;SB=-4222.40;TI=NR_028388,NM_004960,NM_001170634,NM_001170937;GI=FUS,FUS,FUS,FUS;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,256:257:99:7857,575,0:55:99:1.000 chr16 31205615 . A AT 88.64 R8 BaseQRankSum=0.081;DP=110;FS=2.616;HRun=16;HaplotypeScore=509.7138;MQ=51;MQ0=0;MQRankSum=-1.419;QD=0.81;ReadPosRankSum=1.003;SB=-40.66;TI=NR_028388,NM_004960,NM_001170634,NM_001170937;GI=FUS,FUS,FUS,FUS;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,18:110:99:128,0,1187:51:89:0.205 chr16 31273129 rs3764327 T C 464.84 PASS BaseQRankSum=0.215;DP=58;Dels=0.00;FS=4.192;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=0.149;QD=8.01;ReadPosRankSum=-0.348;SB=-155.79;TI=NM_001145808,NM_000632;GI=ITGAM,ITGAM;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,19:58:99:495,0,1052:55:99:0.328 chr16 46696284 rs168745 G A 3990.89 PASS BaseQRankSum=1.707;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5594;MQ=53;MQ0=0;MQRankSum=0.392;QD=29.13;ReadPosRankSum=-0.923;SB=-2141.19;TI=NM_018206;GI=VPS35;FC=Synonymous_H646H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,136:137:99:3991,286,0:53:99:0.993 chr16 46708574 . TA T 80.74 R8 BaseQRankSum=0.216;DP=38;FS=0.000;HRun=14;HaplotypeScore=214.4338;MQ=51;MQ0=0;MQRankSum=0.947;QD=2.12;ReadPosRankSum=0.249;SB=-58.84;TI=NM_018206;GI=VPS35;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,7:38:99:120,0,478:51:81:0.206 chr16 46723598 rs33994299 T C 2715.33 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2752;MQ=56;MQ0=0;QD=25.62;SB=-1899.28;TI=NM_014321;GI=ORC6;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:106:99:2748,196,0:56:99:1.000 chr16 46732095 . G GGATA 1358.92 PASS BaseQRankSum=0.234;DP=62;FS=0.000;HRun=0;HaplotypeScore=20.6970;MQ=60;MQ0=0;MQRankSum=1.757;QD=21.92;ReadPosRankSum=-0.701;SB=-433.72;TI=NM_014321;GI=ORC6;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,25:62:99:1398,0,1450:60:99:0.410 chr16 48204130 rs60681475 C T 1127.75 PASS BaseQRankSum=0.830;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.2746;MQ=56;MQ0=0;MQRankSum=2.182;QD=9.98;ReadPosRankSum=1.639;SB=-724.48;TI=NM_033151,NM_032583,NM_145186;GI=ABCC11,ABCC11,ABCC11;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,50:113:99:1158,0,1475:56:99:0.442 chr16 48258198 rs17822931 C T 768.38 PASS BaseQRankSum=0.983;DP=69;Dels=0.00;FS=3.512;HRun=0;HaplotypeScore=0.8667;MQ=52;MQ0=0;MQRankSum=1.309;QD=11.14;ReadPosRankSum=-2.045;SB=-277.75;TI=NM_033151,NM_032583,NM_145186;GI=ABCC11,ABCC11,ABCC11;FC=Missense_G180R,Missense_G180R,Missense_G180R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,31:69:99:798,0,817:52:99:0.449 chr16 50733859 rs2067085 C G 174.75 SB;LowDP BaseQRankSum=0.312;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=58;MQ0=0;MQRankSum=0.312;QD=12.48;ReadPosRankSum=1.369;SB=-0.01;TI=NM_022162;GI=NOD2;FC=Synonymous_S178S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,6:14:99:205,0,243:58:99:0.462 chr16 50744624 rs2066842 C T 2785.22 PASS BaseQRankSum=-1.140;DP=237;Dels=0.00;FS=0.502;HRun=0;HaplotypeScore=13.8556;MQ=54;MQ0=0;MQRankSum=1.538;QD=11.75;ReadPosRankSum=1.123;SB=-1325.88;TI=NM_022162;GI=NOD2;FC=Missense_P268S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,118:237:99:2815,0,2796:54:99:0.498 chr16 50745199 rs2066843 C T 2179.88 PASS BaseQRankSum=2.101;DP=134;Dels=0.00;FS=0.642;HRun=0;HaplotypeScore=8.2986;MQ=57;MQ0=0;MQRankSum=2.060;QD=16.27;ReadPosRankSum=-0.047;SB=-1094.85;TI=NM_022162;GI=NOD2;FC=Synonymous_R459R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,74:134:99:2210,0,1649:57:99:0.552 chr16 50745583 rs1861759 T G 1716.32 PASS BaseQRankSum=1.767;DP=143;Dels=0.00;FS=3.968;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-0.511;QD=12.00;ReadPosRankSum=-0.257;SB=-1009.19;TI=NM_022162;GI=NOD2;FC=Synonymous_R587R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,69:143:99:1746,0,1888:56:99:0.483 chr16 51171126 rs74499562 T C 893.55 PASS BaseQRankSum=1.399;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=56;MQ0=0;MQRankSum=0.663;QD=13.14;ReadPosRankSum=1.252;SB=-316.80;TI=NM_001127892,NM_002968;GI=SALL1,SALL1;FC=Missense_N1194S,Missense_N1291S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,35:68:99:924,0,883:56:99:0.515 chr16 51171175 rs4614723 C T 4071.38 PASS DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9775;MQ=54;MQ0=0;QD=29.08;SB=-1930.19;TI=NM_001127892,NM_002968;GI=SALL1,SALL1;FC=Missense_V1178I,Missense_V1275I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,139:139:99:4071,298,0:54:99:1.000 chr16 51172677 rs11645288 G A 1855.95 PASS BaseQRankSum=0.939;DP=155;Dels=0.00;FS=1.325;HRun=0;HaplotypeScore=11.1229;MQ=55;MQ0=0;MQRankSum=0.533;QD=11.97;ReadPosRankSum=-0.188;SB=-784.85;TI=NM_001127892,NM_002968;GI=SALL1,SALL1;FC=Synonymous_H1055H,Synonymous_H1152H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,71:155:99:1886,0,1998:55:99:0.461 chr16 51173559 rs1965024;rs56627294 G A 1253.53 PASS BaseQRankSum=-0.997;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3626;MQ=58;MQ0=0;MQRankSum=-0.223;QD=15.10;ReadPosRankSum=0.305;SB=-563.94;TI=NM_001127892,NM_002968;GI=SALL1,SALL1;FC=Synonymous_L761L,Synonymous_L858L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,42:83:99:1284,0,1295:58:99:0.506 chr16 52473263 rs9925256 A G 565.63 PASS BaseQRankSum=-0.061;DP=43;Dels=0.00;FS=2.704;HRun=4;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=0.304;QD=13.15;ReadPosRankSum=0.595;SB=-304.99;TI=NM_001080430,NM_001146188;GI=TOX3,TOX3;FC=Synonymous_P535P,Synonymous_P530P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,21:43:99:596,0,661:56:99:0.488 chr16 52586341 rs3803662 A G 4311.29 PASS DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=28.93;SB=-2028.86;TI=NR_033920;GI=LOC643714;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:149:99:4311,313,0:55:99:1.000 chr16 52640667 . CA CAA,C 815.53 PASS BaseQRankSum=1.694;DP=71;FS=1.278;HaplotypeScore=115.8925;MQ=58;MQ0=1;MQRankSum=-0.726;QD=11.49;ReadPosRankSum=-0.597;SB=-379.53;TI=NR_033920;GI=LOC643714;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:17,3,25:70:99:894,516,953,300,0,653:58:99:0.622 chr16 53656275 . CA C 39.25 R8 BaseQRankSum=-2.103;DP=23;FS=0.000;HRun=16;HaplotypeScore=47.2468;MQ=50;MQ0=0;MQRankSum=-0.289;QD=1.71;ReadPosRankSum=-0.124;SB=-28.21;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,6:23:78.28:78,0,185:50:39:0.333 chr16 53674978 . T C 1573.06 PASS BaseQRankSum=0.478;DP=126;Dels=0.00;FS=4.288;HRun=0;HaplotypeScore=2.7880;MQ=51;MQ0=0;MQRankSum=0.610;QD=12.48;ReadPosRankSum=0.829;SB=-884.77;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Synonymous_V975V,Synonymous_V975V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,63:126:99:1603,0,1457:51:99:0.500 chr16 54967096 rs13336114 C A 441.19 SB BaseQRankSum=0.364;DP=27;Dels=0.00;FS=6.532;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=1.286;QD=16.34;ReadPosRankSum=-0.218;SB=-0.01;TI=NM_005853;GI=IRX5;FC=Missense_P255T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,14:27:99:471,0,353:57:99:0.519 chr16 55519535 rs1132896 G C 1846.70 PASS BaseQRankSum=3.259;DP=136;Dels=0.00;FS=5.212;HRun=0;HaplotypeScore=1.8899;MQ=51;MQ0=0;MQRankSum=-1.869;QD=13.58;ReadPosRankSum=0.151;SB=-1147.11;TI=NM_004530,NM_001127891;GI=MMP2,MMP2;FC=Synonymous_G226G,Synonymous_G176G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,76:136:99:1877,0,1413:51:99:0.559 chr16 55519607 rs1053605 C T 1002.25 PASS BaseQRankSum=2.164;DP=100;Dels=0.00;FS=0.766;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=-1.715;QD=10.02;ReadPosRankSum=-0.158;SB=-726.74;TI=NM_004530,NM_001127891;GI=MMP2,MMP2;FC=Synonymous_T250T,Synonymous_T200T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,46:100:99:1032,0,1157:51:99:0.465 chr16 55523705 rs243849 T C 1448.01 PASS DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=59;MQ0=0;QD=26.82;SB=-718.18;TI=NM_004530,NM_001127891;GI=MMP2,MMP2;FC=Synonymous_D383D,Synonymous_D333D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:54:99:1481,105,0:59:99:1.000 chr16 55527113 rs2287074 G A 3578.37 PASS DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5886;MQ=52;MQ0=0;QD=26.70;SB=-2143.60;TI=NM_004530,NM_001127891;GI=MMP2,MMP2;FC=Synonymous_T460T,Synonymous_T410T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:134:99:3578,262,0:52:99:1.000 chr16 55536727 rs14070 C T 1645.02 PASS BaseQRankSum=0.487;DP=172;Dels=0.00;FS=2.712;HRun=2;HaplotypeScore=4.5630;MQ=52;MQ0=0;MQRankSum=0.948;QD=9.56;ReadPosRankSum=1.548;SB=-1071.51;TI=NM_004530,NM_001127891;GI=MMP2,MMP2;FC=Synonymous_F602F,Synonymous_F552F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,74:172:99:1675,0,2361:52:99:0.430 chr16 55536763 rs11541998 C G 1738.69 PASS BaseQRankSum=1.048;DP=150;Dels=0.00;FS=2.077;HRun=1;HaplotypeScore=9.3471;MQ=54;MQ0=0;MQRankSum=2.078;QD=11.59;ReadPosRankSum=-1.458;SB=-917.46;TI=NM_004530,NM_001127891;GI=MMP2,MMP2;FC=Synonymous_P614P,Synonymous_P564P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,72:150:99:1769,0,1840:54:99:0.480 chr16 55731835 rs5569 G A 931.60 PASS BaseQRankSum=-0.342;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=1.708;QD=11.64;ReadPosRankSum=-2.382;SB=-631.09;TI=NM_001172501,NM_001043,NM_001172504,NM_001172502;GI=SLC6A2,SLC6A2,SLC6A2,SLC6A2;FC=Synonymous_T429T,Synonymous_T429T,Synonymous_T429T,Synonymous_T324T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,40:80:99:962,0,851:53:99:0.500 chr16 55731946 rs998424 G A 623.81 PASS BaseQRankSum=1.519;DP=51;Dels=0.00;FS=1.078;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=1.142;QD=12.23;ReadPosRankSum=-1.651;SB=-337.42;TI=NM_001172501,NM_001043,NM_001172504,NM_001172502;GI=SLC6A2,SLC6A2,SLC6A2,SLC6A2;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,27:51:99:654,0,564:51:99:0.529 chr16 55844925 . A AAC 1241.06 PASS DP=36;FS=0.000;HRun=0;HaplotypeScore=102.0045;MQ=58;MQ0=0;QD=34.47;SB=-582.96;TI=NM_001025195,NM_001025194,NM_001266;GI=CES1,CES1,CES1;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:19,17:36:99:1283,107,0:58:99:0.472 chr16 55844926 . A AC 1145.24 PASS DP=36;FS=0.000;HRun=0;HaplotypeScore=111.5505;MQ=58;MQ0=0;QD=31.81;SB=-544.91;TI=NM_001025195,NM_001025194,NM_001266;GI=CES1,CES1,CES1;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:22,14:36:99:1187,105,0:58:99:0.389 chr16 55862691 rs62028647 G A 780.51 PASS BaseQRankSum=0.881;DP=96;Dels=0.00;FS=11.862;HRun=1;HaplotypeScore=2.8869;MQ=50;MQ0=0;MQRankSum=-5.815;QD=8.13;ReadPosRankSum=-0.591;SB=-316.83;TI=NM_001025195,NM_001025194,NM_001266;GI=CES1,CES1,CES1;FC=Missense_S83L,Missense_S82L,Missense_S82L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,40:96:99:811,0,1662:50:99:0.417 chr16 55862717 rs76828834 T C 1047.04 PASS BaseQRankSum=2.149;DP=142;Dels=0.00;FS=2.435;HRun=0;HaplotypeScore=7.5588;MQ=51;MQ0=0;MQRankSum=-5.839;QD=7.37;ReadPosRankSum=0.565;SB=-581.53;TI=NM_001025195,NM_001025194,NM_001266;GI=CES1,CES1,CES1;FC=Synonymous_P74P,Synonymous_P73P,Synonymous_P73P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,54:142:99:1077,0,2133:51:99:0.380 chr16 55862720 rs74019278 T C 1073.82 PASS BaseQRankSum=2.017;DP=169;Dels=0.00;FS=0.663;HRun=0;HaplotypeScore=6.6647;MQ=49;MQ0=3;MQRankSum=-5.594;QD=6.35;ReadPosRankSum=1.885;SB=-540.33;TI=NM_001025195,NM_001025194,NM_001266;GI=CES1,CES1,CES1;FC=Synonymous_E73E,Synonymous_E72E,Synonymous_E72E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,61:169:99:1104,0,2578:49:99:0.361 chr16 55862762 rs3826194;rs35384853 C G 1363.01 PASS BaseQRankSum=-0.165;DP=230;Dels=0.00;FS=2.684;HRun=2;HaplotypeScore=9.0972;MQ=48;MQ0=8;MQRankSum=-5.700;QD=5.93;ReadPosRankSum=0.878;SB=-786.89;TI=NM_001025195,NM_001025194,NM_001266;GI=CES1,CES1,CES1;FC=Synonymous_P59P,Synonymous_P58P,Synonymous_P58P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:146,82:230:99:1393,0,3429:48:99:0.360 chr16 55862791 rs3826193;rs72808055 T C 1460.03 PASS BaseQRankSum=2.747;DP=232;Dels=0.00;FS=2.564;HRun=0;HaplotypeScore=7.4551;MQ=47;MQ0=8;MQRankSum=-5.007;QD=6.29;ReadPosRankSum=-1.031;SB=-836.60;TI=NM_001025195,NM_001025194,NM_001266;GI=CES1,CES1,CES1;FC=Missense_I50V,Missense_I49V,Missense_I49V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:146,86:232:99:1490,0,3477:47:99:0.371 chr16 55862824 rs3826192;rs34649320 C T 1222.08 PASS BaseQRankSum=0.803;DP=204;Dels=0.00;FS=1.285;HRun=0;HaplotypeScore=3.7552;MQ=48;MQ0=8;MQRankSum=-4.301;QD=5.99;ReadPosRankSum=1.442;SB=-752.52;TI=NM_001025195,NM_001025194,NM_001266;GI=CES1,CES1,CES1;FC=Missense_V39I,Missense_V38I,Missense_V38I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:133,71:204:99:1252,0,3298:48:99:0.348 chr16 55862836 rs3826191 G A 1102.84 PASS BaseQRankSum=2.975;DP=193;Dels=0.00;FS=3.033;HRun=1;HaplotypeScore=7.4218;MQ=48;MQ0=8;MQRankSum=-4.566;QD=5.71;ReadPosRankSum=2.660;SB=-662.40;TI=NM_001025195,NM_001025194,NM_001266;GI=CES1,CES1,CES1;FC=Synonymous_L35L,Synonymous_L34L,Synonymous_L34L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:128,65:193:99:1133,0,3238:48:99:0.337 chr16 55862883 rs3826190;rs34380375 C A 580.88 PASS BaseQRankSum=0.825;DP=78;Dels=0.00;FS=5.673;HRun=0;HaplotypeScore=9.0271;MQ=52;MQ0=0;MQRankSum=-4.589;QD=7.45;ReadPosRankSum=-0.363;SB=-286.39;TI=NM_001025195,NM_001025194,NM_001266;GI=CES1,CES1,CES1;FC=Missense_G19V,Unknown_18,Unknown_18;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,29:78:99:611,0,1392:52:99:0.377 chr16 56548501 rs4784677 C T 2993.32 PASS DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8914;MQ=52;MQ0=0;QD=26.26;SB=-2187.87;TI=NM_031885;GI=BBS2;FC=Missense_S70N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:114:99:3026,214,0:52:99:1.000 chr16 56673227 rs11640851 C A 960.04 PASS BaseQRankSum=1.465;DP=121;Dels=0.00;FS=3.643;HRun=1;HaplotypeScore=5.5759;MQ=53;MQ0=0;MQRankSum=2.889;QD=7.93;ReadPosRankSum=0.397;SB=-439.36;TI=NM_005946;GI=MT1A;FC=Missense_T27N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,41:121:99:990,0,1982:53:99:0.339 chr16 56673249 rs11647171 T C 885.71 PASS BaseQRankSum=0.360;DP=100;Dels=0.00;FS=2.854;HRun=0;HaplotypeScore=6.6770;MQ=53;MQ0=0;MQRankSum=2.223;QD=8.86;ReadPosRankSum=0.084;SB=-352.02;TI=NM_005946;GI=MT1A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,34:100:99:916,0,1632:53:99:0.340 chr16 56904587 rs1529927 C G 3621.45 PASS DP=143;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9799;MQ=50;MQ0=0;QD=25.32;SB=-2418.83;TI=NM_001126108,NM_001126107,NM_000339;GI=SLC12A3,SLC12A3,SLC12A3;FC=Missense_A264G,Missense_A263G,Missense_A264G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:143:99:3621,253,0:50:99:1.000 chr16 57005301 rs1532625 C T 1490.83 PASS BaseQRankSum=1.728;DP=114;Dels=0.00;FS=0.709;HRun=0;HaplotypeScore=7.2027;MQ=55;MQ0=0;MQRankSum=0.088;QD=13.08;ReadPosRankSum=-0.417;SB=-917.99;TI=NM_000078;GI=CETP;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,60:114:99:1521,0,1304:55:99:0.526 chr16 57016092 rs5882 G A 890.94 PASS BaseQRankSum=1.671;DP=70;Dels=0.00;FS=3.140;HRun=0;HaplotypeScore=2.7605;MQ=54;MQ0=0;MQRankSum=0.635;QD=12.73;ReadPosRankSum=0.188;SB=-496.33;TI=NM_000078;GI=CETP;FC=Missense_V422I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,33:70:99:921,0,931:54:99:0.471 chr16 57392733 rs4359426 A C 2596.22 PASS DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=28.22;SB=-1449.21;TI=NM_002990;GI=CCL22;FC=Missense_D2A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2629,190,0:51:99:1.000 chr16 57689385 rs1801257 C G 2932.46 PASS BaseQRankSum=-0.332;DP=273;Dels=0.00;FS=0.449;HRun=4;HaplotypeScore=7.2572;MQ=53;MQ0=0;MQRankSum=0.446;QD=10.74;ReadPosRankSum=-0.409;SB=-1664.64;TI=NM_005682,NM_001145770,NM_001145771,NM_001145773,NM_201524,NM_001145772,NM_201525,NM_001145774;GI=GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56;FC=Missense_S281R,Missense_S281R,Missense_S281R,Missense_S286R,Missense_S281R,Missense_S281R,Missense_S281R,Missense_S281R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:149,124:273:99:2962,0,3602:53:99:0.454 chr16 57689883 rs1376041 T C 2494.36 PASS DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7041;MQ=54;MQ0=0;QD=30.42;SB=-1562.50;TI=NM_005682,NM_001145770,NM_001145771,NM_001145773,NM_201524,NM_001145772,NM_201525,NM_001145774;GI=GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56;FC=Synonymous_T332T,Synonymous_T332T,Synonymous_T332T,Synonymous_T337T,Synonymous_T332T,Synonymous_T332T,Synonymous_T332T,Synonymous_T332T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2527,184,0:54:99:1.000 chr16 57695604 rs2290177 C T 647.53 PASS BaseQRankSum=-0.794;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=60;MQ0=0;MQRankSum=-1.059;QD=14.08;ReadPosRankSum=0.882;SB=-244.12;TI=NM_005682,NM_001145770,NM_001145771,NM_001145773,NM_201524,NM_001145772,NM_201525,NM_001145774;GI=GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56,GPR56;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,25:46:99:678,0,527:60:99:0.543 chr16 57937856 rs413562 G C 3729.19 PASS DP=146;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=25.54;SB=-2497.65;TI=NM_001297;GI=CNGB1;FC=Synonymous_A888A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:3729,262,0:53:99:1.000 chr16 57937895 rs437920 G A 2513.01 PASS DP=98;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=25.64;SB=-1357.77;TI=NM_001297;GI=CNGB1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:98:99:2546,181,0:55:99:1.000 chr16 57949224 rs10459809 G T 367.16 PASS BaseQRankSum=0.050;DP=35;Dels=0.00;FS=5.188;HRun=0;HaplotypeScore=0.9894;MQ=54;MQ0=0;MQRankSum=0.545;QD=10.49;ReadPosRankSum=0.149;SB=-181.22;TI=NM_001297;GI=CNGB1;FC=Missense_L745I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,17:35:99:397,0,432:54:99:0.486 chr16 57996932 rs17821448 G A 2279.73 PASS BaseQRankSum=0.025;DP=189;Dels=0.00;FS=3.398;HRun=0;HaplotypeScore=3.7878;MQ=53;MQ0=0;MQRankSum=1.533;QD=12.06;ReadPosRankSum=0.204;SB=-1040.19;TI=NM_001297,NM_001135639;GI=CNGB1,CNGB1;FC=Synonymous_G109G,Synonymous_G109G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,89:189:99:2310,0,2624:53:99:0.471 chr16 57996960 rs13336595 C T 4473.63 PASS DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8518;MQ=53;MQ0=0;QD=30.02;SB=-2395.53;TI=NM_001297,NM_001135639;GI=CNGB1,CNGB1;FC=Missense_R100H,Missense_R100H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:149:99:4474,325,0:53:99:1.000 chr16 58001086 rs61997250 C T 1634.37 PASS BaseQRankSum=1.936;DP=172;Dels=0.00;FS=0.564;HRun=0;HaplotypeScore=6.3070;MQ=53;MQ0=0;MQRankSum=0.365;QD=9.50;ReadPosRankSum=-1.098;SB=-1219.76;TI=NM_001297,NM_001135639;GI=CNGB1,CNGB1;FC=Synonymous_A35A,Synonymous_A35A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,77:172:99:1664,0,2151:53:99:0.450 chr16 61687701 rs16963768 C T 2670.65 PASS BaseQRankSum=0.132;DP=222;Dels=0.00;FS=4.920;HRun=0;HaplotypeScore=12.1417;MQ=54;MQ0=0;MQRankSum=2.288;QD=12.03;ReadPosRankSum=-0.086;SB=-1589.95;TI=NM_001796;GI=CDH8;FC=Synonymous_T737T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,117:222:99:2701,0,2744:54:99:0.527 chr16 66420885 rs1130844 C T 4686.51 PASS DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9382;MQ=56;MQ0=0;QD=29.47;SB=-2551.96;TI=NM_001795;GI=CDH5;FC=Synonymous_G128G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,159:159:99:4687,340,0:56:99:1.000 chr16 66432423 rs1049970 T C 4187.67 PASS DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4254;MQ=50;MQ0=0;QD=26.67;SB=-2836.83;TI=NM_001795;GI=CDH5;FC=Missense_I517T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,157:157:99:4188,298,0:50:99:1.000 chr16 66432424 rs3826229 C T 1687.04 PASS BaseQRankSum=-0.100;DP=157;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4254;MQ=50;MQ0=0;MQRankSum=-0.002;QD=10.75;ReadPosRankSum=2.237;SB=-1080.75;TI=NM_001795;GI=CDH5;FC=Synonymous_I517I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,75:157:99:1717,0,1814:50:99:0.478 chr16 66969592 rs11863141 G A 869.13 PASS BaseQRankSum=0.836;DP=95;Dels=0.00;FS=1.781;HRun=0;HaplotypeScore=5.5211;MQ=54;MQ0=0;MQRankSum=1.645;QD=9.15;ReadPosRankSum=-0.263;SB=-350.91;TI=NM_198061,NM_003869,NR_036684;GI=CES2,CES2,CES2;FC=Synonymous_L82L,Synonymous_L82L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,37:95:99:899,0,1421:54:99:0.389 chr16 67316234 rs11860295 C T 1060.14 PASS BaseQRankSum=-0.401;DP=98;Dels=0.00;FS=5.013;HRun=0;HaplotypeScore=6.4040;MQ=57;MQ0=0;MQRankSum=1.468;QD=10.82;ReadPosRankSum=0.269;SB=-161.22;TI=NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731;GI=PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4;FC=Missense_T412I,Missense_T412I,Missense_T412I,Missense_T412I,Missense_T331I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,39:98:99:1090,0,1619:57:99:0.402 chr16 67318242 rs8044843 A G 738.53 PASS BaseQRankSum=1.881;DP=56;Dels=0.00;FS=2.299;HRun=2;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=2.013;QD=13.19;ReadPosRankSum=1.569;SB=-332.26;TI=NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731;GI=PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4;FC=Missense_D525G,Missense_D525G,Missense_D525G,Missense_D525G,Missense_D444G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,30:56:99:769,0,564:57:99:0.536 chr16 67320223 rs3868142 G A 2343.63 PASS BaseQRankSum=3.220;DP=198;Dels=0.00;FS=8.568;HRun=0;HaplotypeScore=12.8888;MQ=52;MQ0=0;MQRankSum=1.160;QD=11.84;ReadPosRankSum=0.771;SB=-976.98;TI=NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731;GI=PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4,PLEKHG4;FC=Missense_R830H,Missense_R830H,Missense_R830H,Missense_R830H,Missense_R749H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,96:198:99:2374,0,2376:52:99:0.485 chr16 67469969 rs5480 G A 1700.43 PASS BaseQRankSum=1.577;DP=153;Dels=0.00;FS=4.806;HRun=0;HaplotypeScore=6.3238;MQ=53;MQ0=0;MQRankSum=1.614;QD=11.11;ReadPosRankSum=-0.546;SB=-1011.99;TI=NM_000196;GI=HSD11B2;FC=Synonymous_A196A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,72:153:99:1730,0,1808:53:99:0.471 chr16 67973953 rs5923 G A 1813.57 PASS BaseQRankSum=0.978;DP=154;Dels=0.00;FS=2.064;HRun=1;HaplotypeScore=5.5759;MQ=56;MQ0=0;MQRankSum=0.996;QD=11.78;ReadPosRankSum=-1.094;SB=-974.23;TI=NM_000229;GI=LCAT;FC=Synonymous_L393L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,74:154:99:1844,0,2150:56:99:0.481 chr16 68389772 rs1131933 C T 2278.19 PASS BaseQRankSum=1.381;DP=197;Dels=0.00;FS=0.533;HRun=0;HaplotypeScore=13.6960;MQ=53;MQ0=0;MQRankSum=-0.906;QD=11.56;ReadPosRankSum=-1.591;SB=-1273.26;TI=NM_019023,NM_001184824;GI=PRMT7,PRMT7;FC=Synonymous_T599T,Synonymous_T549T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,97:197:99:2308,0,2352:53:99:0.492 chr16 68390697 rs61733486 C T 1081.09 PASS BaseQRankSum=1.494;DP=84;Dels=0.00;FS=1.842;HRun=0;HaplotypeScore=2.7260;MQ=52;MQ0=0;MQRankSum=1.038;QD=12.87;ReadPosRankSum=0.295;SB=-530.60;TI=NM_019023,NM_001184824;GI=PRMT7,PRMT7;FC=Synonymous_P635P,Synonymous_P585P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,43:84:99:1111,0,994:52:99:0.512 chr16 68598007 rs1177648 A G 1245.35 PASS BaseQRankSum=-1.081;DP=64;Dels=0.00;FS=1.027;HRun=1;HaplotypeScore=5.3863;MQ=57;MQ0=0;MQRankSum=0.134;QD=19.46;ReadPosRankSum=-1.138;SB=-622.43;TI=NM_133458;GI=ZFP90;FC=Synonymous_Q439Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,42:64:99:1275,0,566:57:99:0.656 chr16 68712730 rs8049247 C A 2021.69 PASS BaseQRankSum=2.664;DP=199;Dels=0.00;FS=1.108;HRun=0;HaplotypeScore=10.4702;MQ=49;MQ0=0;MQRankSum=-0.750;QD=10.16;ReadPosRankSum=-1.248;SB=-1488.38;TI=NM_001793;GI=CDH3;FC=Synonymous_I204I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,96:199:99:2052,0,2338:49:99:0.482 chr16 68713730 rs2296409 G A 1573.60 PASS DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=47;MQ0=0;QD=26.67;SB=-852.52;TI=NM_001793;GI=CDH3;FC=Synonymous_T240T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1607,117,0:47:99:1.000 chr16 68713823 rs2296408 C A 2094.19 PASS DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=25.23;SB=-1554.51;TI=NM_001793;GI=CDH3;FC=Synonymous_T271T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2127,150,0:52:99:1.000 chr16 68721470 rs2296405 T C 4985.55 PASS DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3299;MQ=53;MQ0=0;QD=27.70;SB=-2894.95;TI=NM_001793;GI=CDH3;FC=Synonymous_N542N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,180:180:99:4986,358,0:53:99:1.000 chr16 68721533 rs1126933 G C 2250.59 PASS BaseQRankSum=1.070;DP=228;Dels=0.00;FS=0.492;HRun=0;HaplotypeScore=11.0694;MQ=51;MQ0=0;MQRankSum=-2.028;QD=9.87;ReadPosRankSum=-1.436;SB=-1687.63;TI=NM_001793;GI=CDH3;FC=Missense_Q563H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,106:228:99:2281,0,2845:51:99:0.465 chr16 68725783 rs2274239 G A 2394.86 PASS DP=81;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.57;SB=-1357.60;TI=NM_001793;GI=CDH3;FC=Synonymous_K652K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2428,175,0:55:99:1.000 chr16 68729785 rs17715450 C A 2521.89 PASS BaseQRankSum=1.622;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5341;MQ=54;MQ0=0;MQRankSum=0.921;QD=26.83;ReadPosRankSum=0.184;SB=-1646.13;TI=NM_001793;GI=CDH3;FC=Synonymous_R747R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,93:94:99:2555,160,0:54:99:0.989 chr16 68771372 rs3743674 C T 1384.49 PASS DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=47;MQ0=0;QD=27.69;SB=-784.59;TI=NM_004360;GI=CDH1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:50:99:1417,108,0:47:99:1.000 chr16 68842480 rs33963999 G C 778.80 PASS BaseQRankSum=-0.803;DP=56;Dels=0.00;FS=2.268;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=0.492;QD=13.91;ReadPosRankSum=-1.673;SB=-426.63;TI=NM_004360;GI=CDH1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,29:56:99:809,0,731:56:99:0.518 chr16 68857441 rs1801552 T C 1102.04 PASS DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=29.00;SB=-671.65;TI=NM_004360;GI=CDH1;FC=Synonymous_A692A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,38:38:81.27:1135,81,0:57:81:1.000 chr16 69373414 rs11542583 T C 358.61 PASS BaseQRankSum=1.073;DP=57;Dels=0.00;FS=10.977;HRun=1;HaplotypeScore=3.5707;MQ=53;MQ0=0;MQRankSum=2.172;QD=6.29;ReadPosRankSum=-0.094;SB=-138.01;TI=NM_032382;GI=COG8;FC=Synonymous_T14T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,18:57:99:389,0,909:53:99:0.316 chr16 69748923 . ACACT A 4449.34 PASS BaseQRankSum=10.834;DP=180;FS=5.512;HRun=0;HaplotypeScore=331.7013;MQ=50;MQ0=0;MQRankSum=0.135;QD=24.72;ReadPosRankSum=3.759;SB=-1775.64;TI=NM_001025434,NM_001025433,NM_000903;GI=NQO1,NQO1,NQO1;FC=Noncoding,Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:111,69:180:99:4449,0,7428:50:99:0.383 chr16 69748928 rs11555215 C G 1522.97 PASS BaseQRankSum=1.044;DP=181;Dels=0.00;FS=6.621;HRun=1;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=0.054;QD=8.41;ReadPosRankSum=3.556;SB=-811.02;TI=NM_001025434,NM_001025433,NM_000903;GI=NQO1,NQO1,NQO1;FC=Silent,Missense_R119P,Missense_R119P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,69:181:99:1553,0,2618:50:99:0.381 chr16 69760341 . A G 1359.62 PASS BaseQRankSum=1.726;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4941;MQ=53;MQ0=0;MQRankSum=2.312;QD=15.11;ReadPosRankSum=1.547;SB=-808.68;TI=NM_001025434,NM_001025433,NM_000903;GI=NQO1,NQO1,NQO1;FC=Missense_M1T,Missense_M1T,Missense_M1T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,51:90:99:1390,0,967:53:99:0.567 chr16 69967093 rs2102066 G A 4443.99 PASS DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4426;MQ=55;MQ0=0;QD=29.05;SB=-2660.51;TI=NM_007014,NM_199424;GI=WWP2,WWP2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,153:153:99:4444,328,0:55:99:1.000 chr16 70287177 rs4081753 A G 3111.24 PASS DP=110;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=7.5155;MQ=53;MQ0=0;QD=28.28;SB=-1493.03;TI=NM_001605;GI=AARS;FC=Synonymous_V905V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,110:110:99:3144,229,0:53:99:1.000 chr16 70515334 . C T 1446.57 PASS BaseQRankSum=-0.626;DP=115;Dels=0.00;FS=0.711;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=-2.062;QD=12.58;ReadPosRankSum=-1.265;SB=-841.67;TI=NM_015386,NM_001195139;GI=COG4,COG4;FC=Synonymous_T721T,Synonymous_T700T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,62:115:99:1477,0,1411:55:99:0.539 chr16 70546234 rs3762171 G A 4223.08 PASS DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3371;MQ=58;MQ0=0;QD=28.34;SB=-2432.90;TI=NM_015386,NM_001195139;GI=COG4,COG4;FC=Synonymous_L216L,Synonymous_L216L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,149:149:99:4223,304,0:58:99:1.000 chr16 70548297 rs3931036 G A 1899.24 PASS BaseQRankSum=1.677;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=55;MQ0=0;MQRankSum=-1.732;QD=30.15;ReadPosRankSum=1.237;SB=-811.06;TI=NM_015386,NM_001195139;GI=COG4,COG4;FC=Missense_T162I,Missense_T162I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,62:63:99:1932,141,0:55:99:0.984 chr16 70867990 . C T 1288.15 PASS BaseQRankSum=-0.392;DP=162;Dels=0.00;FS=3.875;HRun=2;HaplotypeScore=7.8477;MQ=29;MQ0=47;MQRankSum=-0.104;QD=7.95;ReadPosRankSum=-0.612;SB=-656.59;TI=NM_032821;GI=HYDIN;FC=Synonymous_P4492P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,74:162:99:1318,0,1055:29:99:0.457 chr16 70883694 . G A 1992.77 PASS BaseQRankSum=1.278;DP=448;Dels=0.00;FS=2.440;HRun=0;HaplotypeScore=9.1363;MQ=53;MQ0=0;MQRankSum=0.583;QD=4.45;ReadPosRankSum=-3.456;SB=-1230.95;TI=NM_032821;GI=HYDIN;FC=Missense_H4269Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:346,101:448:99:2023,0,9151:53:99:0.226 chr16 70884524 rs1798314;rs75694658 C G 130.65 PASS BaseQRankSum=1.877;DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-0.186;QD=3.27;ReadPosRankSum=-0.118;SB=-73.79;TI=NM_032821;GI=HYDIN;FC=Missense_E4159Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,8:40:99:161,0,824:56:99:0.200 chr16 70884534 rs1798315;rs79931006 T A 130.81 PASS BaseQRankSum=0.261;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=1.061;QD=3.35;ReadPosRankSum=-0.087;SB=-73.81;TI=NM_032821;GI=HYDIN;FC=Synonymous_T4155T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,8:39:99:161,0,780:56:99:0.205 chr16 70889147 rs2502698 A G 174.61 LowGQ;LowDP DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=29.10;SB=-40.01;TI=NM_032821;GI=HYDIN;FC=Synonymous_I4108I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:15.05:207,15,0:53:15:1.000 chr16 70891778 rs1774417 C G 56.89 LowDP BaseQRankSum=-0.690;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=1.115;QD=3.16;ReadPosRankSum=-1.221;SB=-19.31;TI=NM_032821;GI=HYDIN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,4:18:86.89:87,0,374:60:57:0.222 chr16 70894771 . C T 406.44 PASS BaseQRankSum=2.196;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=60;MQ0=0;MQRankSum=1.510;QD=4.37;ReadPosRankSum=-0.653;SB=-101.92;TI=NM_032821;GI=HYDIN;FC=Synonymous_P3936P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,19:93:99:436,0,2453:60:99:0.204 chr16 70896015 rs11337008 GA G 628.68 PASS BaseQRankSum=0.513;DP=33;FS=1.412;HRun=2;HaplotypeScore=52.6310;MQ=60;MQ0=0;MQRankSum=-1.197;QD=19.05;ReadPosRankSum=0.969;SB=-291.41;TI=NM_032821;GI=HYDIN;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,18:33:99:668,0,498:60:99:0.545 chr16 70896118 rs1774421 A G 304.53 PASS BaseQRankSum=-0.824;DP=22;Dels=0.00;FS=4.589;HRun=0;HaplotypeScore=0.9995;MQ=57;MQ0=0;MQRankSum=-0.363;QD=13.84;ReadPosRankSum=-0.692;SB=-62.60;TI=NM_032821;GI=HYDIN;FC=Synonymous_H3869H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,12:22:99:335,0,273:57:99:0.545 chr16 70897039 rs1798325 C G 2565.59 PASS BaseQRankSum=0.269;DP=306;Dels=0.00;FS=0.882;HRun=0;HaplotypeScore=3.7706;MQ=55;MQ0=0;MQRankSum=2.271;QD=8.38;ReadPosRankSum=0.978;SB=-2051.67;TI=NM_032821;GI=HYDIN;FC=Missense_V3839L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:179,127:306:99:2596,0,4037:55:99:0.415 chr16 70908239 rs1774311 G A 2841.56 PASS BaseQRankSum=4.975;DP=264;Dels=0.00;FS=2.720;HRun=1;HaplotypeScore=7.2576;MQ=52;MQ0=0;MQRankSum=1.569;QD=10.76;ReadPosRankSum=0.971;SB=-1754.96;TI=NM_032821;GI=HYDIN;FC=Synonymous_I3638I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:151,113:264:99:2872,0,3737:52:99:0.428 chr16 70908736 rs1354550 A G 465.25 PASS BaseQRankSum=0.215;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-0.479;QD=13.29;ReadPosRankSum=-0.215;SB=-244.07;TI=NM_032821;GI=HYDIN;FC=Synonymous_N3547N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,18:35:99:495,0,556:58:99:0.514 chr16 70913386 rs1774323 G A 305.04 PASS BaseQRankSum=0.691;DP=28;Dels=0.00;FS=1.721;HRun=0;HaplotypeScore=5.4537;MQ=55;MQ0=0;MQRankSum=2.488;QD=10.89;ReadPosRankSum=1.935;SB=-93.54;TI=NM_032821;GI=HYDIN;FC=Synonymous_T3456T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,13:28:99:335,0,378:55:99:0.464 chr16 70913501 rs1774325 T C 145.69 PASS BaseQRankSum=1.078;DP=25;Dels=0.00;FS=4.446;HRun=0;HaplotypeScore=1.9995;MQ=55;MQ0=0;MQRankSum=-1.893;QD=5.83;ReadPosRankSum=-1.252;SB=-110.14;TI=NM_032821;GI=HYDIN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,8:25:99:176,0,609:55:99:0.320 chr16 70916554 . G A 24.23 SB;LowDP BaseQRankSum=1.666;DP=9;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-0.762;QD=2.69;ReadPosRankSum=-1.666;SB=-0.01;TI=NM_032821;GI=HYDIN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,2:9:54.21:54,0,234:57:24:0.222 chr16 70916556 rs9932260;rs79796844 G A 228.21 LowDP BaseQRankSum=-0.185;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-0.925;QD=19.02;ReadPosRankSum=1.479;SB=-40.65;TI=NM_032821;GI=HYDIN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,9:12:84.67:258,0,85:58:85:0.750 chr16 70917855 rs1774331 A G 315.49 PASS BaseQRankSum=-0.952;DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=54;MQ0=0;MQRankSum=0.789;QD=12.62;ReadPosRankSum=-1.333;SB=-115.71;TI=NM_032821;GI=HYDIN;FC=Missense_L3315P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,12:25:99:345,0,313:54:99:0.480 chr16 70917931 rs1798440 C G 460.70 PASS BaseQRankSum=0.418;DP=37;Dels=0.00;FS=1.317;HRun=2;HaplotypeScore=1.9993;MQ=53;MQ0=0;MQRankSum=-0.665;QD=12.45;ReadPosRankSum=0.046;SB=-360.93;TI=NM_032821;GI=HYDIN;FC=Missense_A3290P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,22:37:99:491,0,324:53:99:0.595 chr16 70926334 rs1774423 G C 514.92 PASS BaseQRankSum=0.996;DP=37;Dels=0.00;FS=1.320;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-1.824;QD=13.92;ReadPosRankSum=0.628;SB=-306.87;TI=NM_032821;GI=HYDIN;FC=Missense_T3115R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,21:37:99:545,0,421:57:99:0.568 chr16 70934974 rs12102425;rs75533009 T C 5103.68 PASS BaseQRankSum=2.128;DP=478;Dels=0.00;FS=3.960;HRun=1;HaplotypeScore=17.2648;MQ=52;MQ0=0;MQRankSum=0.797;QD=10.68;ReadPosRankSum=-2.027;SB=-3361.57;TI=NM_032821;GI=HYDIN;FC=Missense_E2993G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:246,232:478:99:5104,0,5312:52:99:0.485 chr16 70937582 rs11075812 G A 261.07 PASS BaseQRankSum=-1.336;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.401;QD=11.87;ReadPosRankSum=0.467;SB=-140.19;TI=NM_032821;GI=HYDIN;FC=Missense_P2931L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,13:22:99:291,0,248:57:99:0.591 chr16 70942688 rs1774449 A C 570.42 PASS BaseQRankSum=1.973;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=3.038;QD=9.20;ReadPosRankSum=-0.625;SB=-421.83;TI=NM_032821;GI=HYDIN;FC=Missense_I2693S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,27:62:99:600,0,905:55:99:0.435 chr16 70972595 rs2502726;rs79004160 T C 846.24 PASS BaseQRankSum=0.013;DP=66;Dels=0.00;FS=0.918;HRun=1;HaplotypeScore=2.7502;MQ=55;MQ0=0;MQRankSum=0.013;QD=12.82;ReadPosRankSum=1.323;SB=-577.26;TI=NM_032821;GI=HYDIN;FC=Missense_E2305G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,35:66:99:876,0,750:55:99:0.530 chr16 70972620 rs1774360;rs77513448 G C 713.88 PASS BaseQRankSum=2.159;DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.699;QD=10.98;ReadPosRankSum=-0.899;SB=-461.90;TI=NM_032821;GI=HYDIN;FC=Missense_R2297G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,32:65:99:744,0,798:55:99:0.492 chr16 70975667 rs2258307 T C 212.90 LowDP BaseQRankSum=-0.380;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.689;QD=17.74;ReadPosRankSum=0.135;SB=-34.63;TI=NM_032821;GI=HYDIN;FC=Missense_Q2241R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,7:12:99:243,0,164:60:99:0.583 chr16 70986480 rs2458386 G A 166.21 SB;LowDP BaseQRankSum=0.068;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=1.027;QD=11.87;ReadPosRankSum=1.276;SB=-0.01;TI=NM_032821;GI=HYDIN;FC=Synonymous_T2124T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,7:14:99:196,0,240:58:99:0.500 chr16 70989299 rs1798337 C T 137.12 LowDP BaseQRankSum=1.423;DP=17;Dels=0.00;FS=4.708;HRun=0;HaplotypeScore=0.9998;MQ=55;MQ0=0;MQRankSum=1.423;QD=8.07;ReadPosRankSum=-0.264;SB=-19.58;TI=NM_032821;GI=HYDIN;FC=Missense_V2098M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,5:17:99:167,0,268:55:99:0.294 chr16 70989335 rs1774541 G A 120.78 LowDP BaseQRankSum=-1.272;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.307;QD=6.36;ReadPosRankSum=0.482;SB=-77.88;TI=NM_032821;GI=HYDIN;FC=Missense_R2086C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,6:19:99:151,0,305:54:99:0.316 chr16 70993542 . T C 180.64 PASS BaseQRankSum=0.217;DP=53;Dels=0.00;FS=10.677;HRun=0;HaplotypeScore=2.7880;MQ=59;MQ0=0;MQRankSum=1.209;QD=3.41;ReadPosRankSum=-1.065;SB=-103.89;TI=NM_032821;GI=HYDIN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,13:53:99:211,0,1410:59:99:0.245 chr16 70993566 rs1774266 A G 2180.62 PASS DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=34.61;SB=-513.72;TI=NM_032821;GI=HYDIN;FC=Synonymous_H2041H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,62:63:99:2214,169,0:59:99:1.000 chr16 70998808 rs8056408 G A 1465.96 PASS BaseQRankSum=1.593;DP=77;Dels=0.00;FS=1.296;HRun=1;HaplotypeScore=1.9931;MQ=59;MQ0=0;MQRankSum=1.666;QD=19.04;ReadPosRankSum=1.645;SB=-204.26;TI=NM_032821;GI=HYDIN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,47:77:99:1496,0,851:59:99:0.610 chr16 71008169 rs1774293 T C 3589.61 PASS BaseQRankSum=1.763;DP=291;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4647;MQ=53;MQ0=0;MQRankSum=2.957;QD=12.34;ReadPosRankSum=0.656;SB=-1899.76;TI=NM_032821;GI=HYDIN;FC=Synonymous_L1647L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:151,140:291:99:3590,0,3589:53:99:0.481 chr16 71012855 rs1774303 T C 404.32 PASS BaseQRankSum=-0.666;DP=33;Dels=0.00;FS=1.423;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=-0.414;QD=12.25;ReadPosRankSum=-0.919;SB=-160.35;TI=NM_032821;GI=HYDIN;FC=Missense_I1533V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,17:33:99:434,0,339:56:99:0.515 chr16 71015290 rs2669067;rs74918088 C G 287.87 LowDP BaseQRankSum=1.139;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.705;QD=17.99;ReadPosRankSum=-1.464;SB=-65.34;TI=NM_032821;GI=HYDIN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,10:16:99:318,0,188:58:99:0.625 chr16 71015482 rs1798537 G A 132.93 SB;LowDP BaseQRankSum=-0.529;DP=12;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7608;MQ=56;MQ0=0;MQRankSum=0.380;QD=11.08;ReadPosRankSum=0.135;SB=-0.01;TI=NM_032821;GI=HYDIN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,5:12:99:163,0,200:56:99:0.417 chr16 71025245 rs1774516 C T 88.15 LowDP BaseQRankSum=0.198;DP=7;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=41;MQ0=0;MQRankSum=-0.922;QD=12.59;ReadPosRankSum=0.198;SB=-70.99;TI=NM_032821;GI=HYDIN;FC=Synonymous_T1280T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,5:7:32.73:118,0,33:41:33:0.714 chr16 71026076 rs1774513 C G 1558.15 PASS BaseQRankSum=1.585;DP=139;Dels=0.00;FS=7.946;HRun=0;HaplotypeScore=11.6737;MQ=50;MQ0=0;MQRankSum=0.844;QD=11.21;ReadPosRankSum=-0.988;SB=-626.92;TI=NM_032821;GI=HYDIN;FC=Missense_V1228L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,63:139:99:1588,0,1815:50:99:0.453 chr16 71026098 rs704641;rs74644954 C T 822.75 PASS BaseQRankSum=1.492;DP=91;Dels=0.00;FS=4.230;HRun=2;HaplotypeScore=4.5658;MQ=51;MQ0=0;MQRankSum=1.124;QD=9.04;ReadPosRankSum=-0.263;SB=-360.31;TI=NM_032821;GI=HYDIN;FC=Synonymous_P1220P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,36:91:99:853,0,1289:51:99:0.404 chr16 71054178 rs6416709 T C 2079.15 PASS BaseQRankSum=2.446;DP=193;Dels=0.00;FS=1.158;HRun=0;HaplotypeScore=6.3063;MQ=53;MQ0=0;MQRankSum=1.330;QD=10.77;ReadPosRankSum=-0.491;SB=-1315.09;TI=NM_032821;GI=HYDIN;FC=Missense_I1077V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,95:193:99:2109,0,2444:53:99:0.500 chr16 71061495 rs1022220 A G 1244.44 PASS BaseQRankSum=1.541;DP=94;Dels=0.00;FS=2.694;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=0.934;QD=13.24;ReadPosRankSum=1.973;SB=-818.05;TI=NM_032821,NM_017558;GI=HYDIN,HYDIN;FC=Silent,Missense_X1018Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,51:94:99:1274,0,1061:56:99:0.543 chr16 71061529 . G A 540.03 PASS BaseQRankSum=0.919;DP=119;Dels=0.00;FS=5.462;HRun=1;HaplotypeScore=3.6546;MQ=53;MQ0=0;MQRankSum=-1.346;QD=4.54;ReadPosRankSum=-1.179;SB=-260.36;TI=NM_032821,NM_017558;GI=HYDIN,HYDIN;FC=Synonymous_L1006L,Synonymous_L1006L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,29:119:99:570,0,2453:53:99:0.244 chr16 71096064 . A T 130.66 LowVariantFreq;SB BaseQRankSum=1.871;DP=49;Dels=0.00;FS=7.470;HRun=0;HaplotypeScore=7.1527;MQ=58;MQ0=0;MQRankSum=1.729;QD=2.67;ReadPosRankSum=0.557;SB=-0.01;TI=NM_032821,NM_017558,NM_001198543,NM_001198542;GI=HYDIN,HYDIN,HYDIN,HYDIN;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,7:49:99:161,0,1199:58:99:0.143 chr16 71098649 rs3817211 T C 692.82 PASS BaseQRankSum=2.754;DP=57;Dels=0.00;FS=1.029;HRun=0;HaplotypeScore=3.6781;MQ=53;MQ0=0;MQRankSum=-0.599;QD=12.15;ReadPosRankSum=-0.088;SB=-404.10;TI=NM_032821,NM_017558,NM_001198543,NM_001198542;GI=HYDIN,HYDIN,HYDIN,HYDIN;FC=Missense_N724D,Missense_N724D,Missense_N741D,Missense_N751D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,28:57:99:723,0,701:53:99:0.491 chr16 71101200 rs10744982 T C 412.48 PASS BaseQRankSum=-0.560;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=1.339;QD=8.25;ReadPosRankSum=0.979;SB=-286.58;TI=NM_032821,NM_017558,NM_001198543,NM_001198542;GI=HYDIN,HYDIN,HYDIN,HYDIN;FC=Missense_T690A,Missense_T690A,Missense_T707A,Missense_T717A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,19:50:99:442,0,753:56:99:0.380 chr16 71101270 rs10735134 C T 422.13 PASS BaseQRankSum=-0.301;DP=49;Dels=0.00;FS=1.179;HRun=0;HaplotypeScore=2.6548;MQ=56;MQ0=0;MQRankSum=1.649;QD=8.61;ReadPosRankSum=-0.591;SB=-173.47;TI=NM_032821,NM_017558,NM_001198543,NM_001198542;GI=HYDIN,HYDIN,HYDIN,HYDIN;FC=Synonymous_V666V,Synonymous_V666V,Synonymous_V683V,Synonymous_V693V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,18:49:99:452,0,753:56:99:0.367 chr16 71103269 rs1398391 T C 1159.52 PASS BaseQRankSum=0.640;DP=97;Dels=0.00;FS=2.721;HRun=0;HaplotypeScore=3.8852;MQ=59;MQ0=0;MQRankSum=-2.376;QD=11.95;ReadPosRankSum=-2.796;SB=-525.50;TI=NM_032821,NM_017558,NM_001198543,NM_001198542;GI=HYDIN,HYDIN,HYDIN,HYDIN;FC=Synonymous_P625P,Synonymous_P625P,Synonymous_P642P,Synonymous_P652P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,45:97:99:1190,0,1299:59:99:0.464 chr16 71113780 rs1512612 C T 288.07 LowDP BaseQRankSum=0.286;DP=19;Dels=0.00;FS=1.829;HRun=1;HaplotypeScore=0.9998;MQ=60;MQ0=0;MQRankSum=-0.122;QD=15.16;ReadPosRankSum=-0.694;SB=-134.86;TI=NM_032821,NM_017558,NM_001198543,NM_001198542;GI=HYDIN,HYDIN,HYDIN,HYDIN;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,10:19:99:318,0,178:60:99:0.526 chr16 71122408 rs62040318 C T 249.38 PASS BaseQRankSum=1.063;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=27;MQ0=46;MQRankSum=1.604;QD=3.12;ReadPosRankSum=0.775;SB=-124.65;TI=NM_032821,NM_017558,NM_001198543,NM_001198542;GI=HYDIN,HYDIN,HYDIN,HYDIN;FC=Missense_G489D,Missense_G489D,Missense_G506D,Missense_G516D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,30:80:99:279,0,529:27:99:0.375 chr16 72042682 rs3213422 A C 1988.69 PASS DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6739;MQ=54;MQ0=0;QD=26.52;SB=-1126.48;TI=NM_001361;GI=DHODH;FC=Missense_K7Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2022,144,0:54:99:1.000 chr16 72045999 rs61753576 C T 1340.06 PASS BaseQRankSum=2.590;DP=112;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8773;MQ=54;MQ0=0;MQRankSum=0.991;QD=11.96;ReadPosRankSum=1.238;SB=-968.27;TI=NM_001361;GI=DHODH;FC=Synonymous_F24F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,64:112:99:1370,0,1049:54:99:0.571 chr16 72821356 . A G 18.05 LowVariantFreq;SB BaseQRankSum=-2.879;DP=48;Dels=0.00;FS=23.972;HRun=2;HaplotypeScore=16.8261;MQ=46;MQ0=0;MQRankSum=-3.231;QD=0.38;ReadPosRankSum=1.609;SB=-0.01;TI=NM_006885,NM_001164766;GI=ZFHX3,ZFHX3;FC=Missense_S3607P,Missense_S2693P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,9:48:47.97:48,0,1110:46:18:0.191 chr16 72821359 . A G 134.31 SB BaseQRankSum=-2.910;DP=49;Dels=0.00;FS=40.511;HRun=5;HaplotypeScore=25.2250;MQ=46;MQ0=0;MQRankSum=-3.770;QD=2.74;ReadPosRankSum=1.642;SB=-0.01;TI=NM_006885,NM_001164766;GI=ZFHX3,ZFHX3;FC=Missense_S3606P,Missense_S2692P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,13:49:99:164,0,1012:46:99:0.265 chr16 72821375 . C G 223.83 SB BaseQRankSum=-1.134;DP=43;Dels=0.00;FS=52.899;HRun=5;HaplotypeScore=50.1496;MQ=47;MQ0=0;MQRankSum=-0.440;QD=5.21;ReadPosRankSum=0.787;SB=-0.01;TI=NM_006885,NM_001164766;GI=ZFHX3,ZFHX3;FC=Synonymous_P3600P,Synonymous_P2686P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,14:43:99:254,0,551:47:99:0.333 chr16 72821381 . A G 9.23 LowGQX;LowVariantFreq;SB BaseQRankSum=-0.943;DP=54;Dels=0.00;FS=23.315;HRun=6;HaplotypeScore=43.7315;MQ=45;MQ0=0;MQRankSum=-1.911;QD=0.17;ReadPosRankSum=0.121;SB=-0.01;TI=NM_006885,NM_001164766;GI=ZFHX3,ZFHX3;FC=Synonymous_P3598P,Synonymous_P2684P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,9:54:38.68:39,0,728:45:9:0.173 chr16 72827758 rs699444 T C 2986.90 PASS DP=103;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=29.00;SB=-1895.99;TI=NM_006885,NM_001164766;GI=ZFHX3,ZFHX3;FC=Synonymous_G2941G,Synonymous_G2027G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,103:103:99:3020,220,0:58:99:1.000 chr16 72830437 . T G 43.89 SB BaseQRankSum=-2.236;DP=20;Dels=0.00;FS=14.622;HRun=5;HaplotypeScore=14.8974;MQ=48;MQ0=0;MQRankSum=-0.219;QD=2.19;ReadPosRankSum=-1.009;SB=-0.01;TI=NM_006885,NM_001164766;GI=ZFHX3,ZFHX3;FC=Synonymous_P2048P,Synonymous_P1134P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,6:20:73.88:74,0,285:48:44:0.316 chr16 72830440 . A G 40.66 SB;LowDP BaseQRankSum=-0.042;DP=19;Dels=0.00;FS=15.091;HRun=5;HaplotypeScore=12.0440;MQ=47;MQ0=0;MQRankSum=-0.718;QD=2.14;ReadPosRankSum=-0.465;SB=-0.01;TI=NM_006885,NM_001164766;GI=ZFHX3,ZFHX3;FC=Synonymous_P2047P,Synonymous_P1133P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,7:19:70.66:71,0,209:47:41:0.368 chr16 72832135 rs740178 T A 1714.15 PASS DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=34.28;SB=-636.08;TI=NM_006885,NM_001164766;GI=ZFHX3,ZFHX3;FC=Synonymous_A1482A,Synonymous_A568A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:50:99:1747,129,0:58:99:1.000 chr16 72991660 rs10852515 C G 6572.27 PASS BaseQRankSum=1.664;DP=204;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=17.5950;MQ=55;MQ0=0;MQRankSum=1.476;QD=32.22;ReadPosRankSum=-0.691;SB=-3365.96;TI=NM_006885,NM_001164766;GI=ZFHX3,ZFHX3;FC=Synonymous_P795P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,202:204:99:6572,494,0:55:99:0.995 chr16 72991715 rs4788682 A G 6261.31 PASS DP=220;Dels=0.03;FS=0.000;HRun=0;HaplotypeScore=24.1319;MQ=57;MQ0=0;QD=28.46;SB=-3552.50;TI=NM_006885,NM_001164766;GI=ZFHX3,ZFHX3;FC=Missense_V777A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,214:214:99:6261,463,0:57:99:1.000 chr16 74750405 rs2301865 G A 2717.10 PASS BaseQRankSum=-1.059;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.689;QD=26.38;ReadPosRankSum=-0.118;SB=-1729.13;TI=NM_024306;GI=FA2H;FC=Synonymous_P293P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,102:103:99:2750,164,0:54:99:0.990 chr16 74808425 rs929881 G A 1349.67 PASS BaseQRankSum=1.120;DP=109;Dels=0.00;FS=0.723;HRun=1;HaplotypeScore=9.6928;MQ=51;MQ0=0;MQRankSum=1.348;QD=12.38;ReadPosRankSum=1.009;SB=-941.88;TI=NM_024306;GI=FA2H;FC=Synonymous_L77L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,57:109:99:1380,0,1145:51:99:0.528 chr16 75674252 . TA T 175.95 R8;SB BaseQRankSum=-0.106;DP=33;FS=3.979;HRun=18;HaplotypeScore=222.6760;MQ=47;MQ0=0;MQRankSum=0.953;QD=5.33;ReadPosRankSum=1.291;SB=-0.00;TI=NM_005548,NM_001130089;GI=KARS,KARS;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,11:33:99:215,0,104:47:99:0.440 chr16 75675609 rs5030748 T C 1505.20 PASS BaseQRankSum=1.802;DP=142;Dels=0.00;FS=0.632;HRun=1;HaplotypeScore=9.1184;MQ=54;MQ0=0;MQRankSum=-0.135;QD=10.60;ReadPosRankSum=-1.269;SB=-989.68;TI=NM_005548,NM_001130089;GI=KARS,KARS;FC=Synonymous_R25R,Synonymous_R53R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,70:142:99:1535,0,1589:54:99:0.500 chr16 76311602 rs78088927 G GT 5081.48 PASS DP=125;FS=0.000;HRun=1;HaplotypeScore=111.2601;MQ=57;MQ0=0;QD=40.65;SB=-1952.44;TI=NM_033401;GI=CNTNAP4;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,119:125:99:5081,361,0:57:99:0.983 chr16 76343812 rs8053810 G A 690.16 PASS BaseQRankSum=0.446;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=58;MQ0=0;MQRankSum=-1.412;QD=9.86;ReadPosRankSum=-0.507;SB=-309.30;TI=NM_033401,NM_138994;GI=CNTNAP4,CNTNAP4;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,27:70:99:720,0,1242:58:99:0.386 chr16 76343813 rs9927237 G A 679.06 PASS BaseQRankSum=2.642;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=58;MQ0=0;MQRankSum=0.265;QD=9.70;ReadPosRankSum=-0.543;SB=-305.58;TI=NM_033401,NM_138994;GI=CNTNAP4,CNTNAP4;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,27:70:99:709,0,1215:58:99:0.386 chr16 76495842 rs35994137 C A 613.91 PASS BaseQRankSum=0.786;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9994;MQ=56;MQ0=0;MQRankSum=-0.607;QD=8.30;ReadPosRankSum=-0.752;SB=-255.07;TI=NM_033401,NM_138994;GI=CNTNAP4,CNTNAP4;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,28:74:99:644,0,1200:56:99:0.378 chr16 76501288 . C T 1935.16 PASS BaseQRankSum=1.237;DP=189;Dels=0.00;FS=1.148;HRun=0;HaplotypeScore=6.4698;MQ=54;MQ0=0;MQRankSum=2.227;QD=10.24;ReadPosRankSum=0.997;SB=-1131.69;TI=NM_033401,NM_138994;GI=CNTNAP4,CNTNAP4;FC=Missense_H508Y,Missense_P435L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,80:189:99:1965,0,2624:54:99:0.423 chr16 76532583 rs12933808 A G 1236.17 PASS DP=45;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.7825;MQ=54;MQ0=0;QD=27.47;SB=-632.00;TI=NM_033401,NM_138994;GI=CNTNAP4,CNTNAP4;FC=Missense_R786G,Missense_Q713R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,45:45:90.30:1269,90,0:54:90:1.000 chr16 76587202 rs7202925 T G 1229.00 PASS BaseQRankSum=0.765;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6815;MQ=52;MQ0=0;MQRankSum=0.615;QD=12.17;ReadPosRankSum=1.363;SB=-790.17;TI=NM_033401,NM_138994;GI=CNTNAP4,CNTNAP4;FC=Missense_I1155R,Missense_D1082E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,48:101:99:1259,0,1367:52:99:0.475 chr16 76587331 rs7184958 T C 1662.98 PASS BaseQRankSum=0.446;DP=143;Dels=0.00;FS=4.001;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=1.485;QD=11.63;ReadPosRankSum=-2.672;SB=-925.20;TI=NM_033401,NM_138994;GI=CNTNAP4,CNTNAP4;FC=Missense_L1198P,Synonymous_T1125T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,69:143:99:1693,0,1717:52:99:0.483 chr16 77325325 rs35478105 G T 1504.86 PASS BaseQRankSum=-0.341;DP=122;Dels=0.00;FS=2.439;HRun=0;HaplotypeScore=6.3265;MQ=54;MQ0=0;MQRankSum=-0.044;QD=12.33;ReadPosRankSum=-0.622;SB=-1042.07;TI=NM_199355;GI=ADAMTS18;FC=Missense_S1080R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,72:122:99:1535,0,1175:54:99:0.590 chr16 77327018 rs35296483 G A 1183.72 PASS BaseQRankSum=0.499;DP=146;Dels=0.00;FS=2.165;HRun=0;HaplotypeScore=3.5764;MQ=53;MQ0=0;MQRankSum=0.265;QD=8.11;ReadPosRankSum=-1.960;SB=-723.44;TI=NM_199355;GI=ADAMTS18;FC=Synonymous_C1048C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,53:146:99:1214,0,2185:53:99:0.366 chr16 77328895 rs12935229 C T 1672.92 PASS BaseQRankSum=0.466;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9823;MQ=51;MQ0=0;MQRankSum=0.566;QD=12.58;ReadPosRankSum=1.850;SB=-1023.59;TI=NM_199355;GI=ADAMTS18;FC=Synonymous_V977V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,70:133:99:1703,0,1568:51:99:0.526 chr16 77328990 rs12935394 C A 1299.51 PASS BaseQRankSum=-0.601;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=53;MQ0=0;MQRankSum=0.453;QD=11.40;ReadPosRankSum=0.340;SB=-897.59;TI=NM_199355;GI=ADAMTS18;FC=Missense_A946S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,57:114:99:1330,0,1262:53:99:0.500 chr16 77353973 rs9930984 G T 1152.36 PASS BaseQRankSum=-0.229;DP=109;Dels=0.00;FS=7.962;HRun=0;HaplotypeScore=3.6821;MQ=55;MQ0=0;MQRankSum=2.395;QD=10.57;ReadPosRankSum=0.994;SB=-681.34;TI=NM_199355;GI=ADAMTS18;FC=Missense_L769I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,47:109:99:1182,0,1698:55:99:0.431 chr16 77359919 rs11640912 A T 1826.67 PASS BaseQRankSum=1.986;DP=156;Dels=0.00;FS=0.591;HRun=0;HaplotypeScore=3.7877;MQ=53;MQ0=0;MQRankSum=0.172;QD=11.71;ReadPosRankSum=-0.151;SB=-1200.45;TI=NM_199355;GI=ADAMTS18;FC=Missense_L626I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,82:156:99:1857,0,1721:53:99:0.526 chr16 77389956 rs8059275 A G 5781.37 PASS BaseQRankSum=1.713;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=56;MQ0=0;MQRankSum=1.657;QD=31.25;ReadPosRankSum=1.339;SB=-3538.50;TI=NM_199355;GI=ADAMTS18;FC=Synonymous_D447D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,184:185:99:5781,424,0:56:99:0.995 chr16 77393207 rs2650907 G C 1981.41 PASS DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=27.14;SB=-1190.69;TI=NM_199355;GI=ADAMTS18;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2014,144,0:57:99:1.000 chr16 77398081 rs1948719 T C 650.28 PASS BaseQRankSum=1.617;DP=58;Dels=0.00;FS=1.038;HRun=1;HaplotypeScore=3.5707;MQ=57;MQ0=0;MQRankSum=0.746;QD=11.21;ReadPosRankSum=-0.124;SB=-439.23;TI=NM_199355;GI=ADAMTS18;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,29:58:99:680,0,765:57:99:0.500 chr16 78149000 . C T 792.19 PASS BaseQRankSum=0.340;DP=60;Dels=0.00;FS=1.057;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=0.104;QD=13.20;ReadPosRankSum=0.015;SB=-335.03;TI=NM_130791,NM_016373;GI=WWOX,WWOX;FC=Missense_R120W,Missense_R120W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,31:60:99:822,0,760:56:99:0.517 chr16 78198192 rs2303191 T C 515.71 PASS BaseQRankSum=0.380;DP=38;Dels=0.00;FS=1.817;HRun=0;HaplotypeScore=3.6717;MQ=56;MQ0=0;MQRankSum=1.022;QD=13.57;ReadPosRankSum=-0.204;SB=-55.09;TI=NM_130791,NM_016373;GI=WWOX,WWOX;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,19:38:99:546,0,522:56:99:0.500 chr16 78312497 rs8050128 C A 652.57 PASS BaseQRankSum=1.505;DP=50;Dels=0.00;FS=1.109;HRun=1;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=0.981;QD=13.05;ReadPosRankSum=-0.495;SB=-308.94;TI=NM_130791,NM_016373;GI=WWOX,WWOX;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,26:50:99:683,0,640:57:99:0.520 chr16 78420775 rs12918952 G A 943.79 PASS BaseQRankSum=-1.810;DP=102;Dels=0.00;FS=0.761;HRun=2;HaplotypeScore=6.3539;MQ=50;MQ0=0;MQRankSum=-0.271;QD=9.25;ReadPosRankSum=-1.645;SB=-615.61;TI=NM_016373;GI=WWOX;FC=Missense_A179T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,43:102:99:974,0,1415:50:99:0.426 chr16 79633805 rs5818251 TGCC T 2559.19 PASS BaseQRankSum=-1.071;DP=113;FS=5.676;HRun=0;HaplotypeScore=61.3911;MQ=58;MQ0=0;MQRankSum=1.211;QD=22.65;ReadPosRankSum=-1.755;SB=-879.95;TI=NM_005360,NM_001031804;GI=MAF,MAF;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,55:113:99:2598,0,2064:58:99:0.491 chr16 81129822 rs8052579;rs11551818 G A 452.88 LowGQX;LowGQ BaseQRankSum=0.857;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=44;MQ0=3;MQRankSum=2.944;QD=17.42;ReadPosRankSum=-1.230;SB=-173.29;TI=NM_004483,NR_033249,NR_033247;GI=GCSH,GCSH,LOC100329108;FC=Missense_S21L,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,20:26:2.19:482,0,2:44:2:0.769 chr16 81279120 rs28370522 T C 1266.95 PASS BaseQRankSum=-0.281;DP=111;Dels=0.00;FS=2.579;HRun=0;HaplotypeScore=5.3097;MQ=54;MQ0=0;MQRankSum=0.050;QD=11.41;ReadPosRankSum=1.197;SB=-629.95;TI=NM_017429;GI=BCMO1;FC=Synonymous_N35N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,52:111:99:1297,0,1509:54:99:0.468 chr16 81301694 rs12934922 A T 1259.10 PASS BaseQRankSum=0.804;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6633;MQ=54;MQ0=0;MQRankSum=0.797;QD=8.34;ReadPosRankSum=1.762;SB=-949.88;TI=NM_017429;GI=BCMO1;FC=Missense_R267S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,60:151:99:1289,0,2145:54:99:0.397 chr16 81303759 rs4889294 T C 1283.06 PASS BaseQRankSum=-0.134;DP=83;Dels=0.00;FS=1.001;HRun=0;HaplotypeScore=8.3625;MQ=57;MQ0=0;MQRankSum=1.810;QD=15.46;ReadPosRankSum=-1.533;SB=-379.66;TI=NM_017429;GI=BCMO1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,49:83:99:1313,0,965:57:99:0.590 chr16 81819768 rs4586425 T C 1431.14 PASS BaseQRankSum=0.755;DP=132;Dels=0.00;FS=2.312;HRun=1;HaplotypeScore=4.5278;MQ=52;MQ0=0;MQRankSum=1.089;QD=10.84;ReadPosRankSum=0.673;SB=-646.66;TI=NM_002661;GI=PLCG2;FC=Synonymous_A58A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,59:132:99:1461,0,1740:52:99:0.447 chr16 81888152 rs1143686 A G 1078.26 PASS BaseQRankSum=1.197;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7041;MQ=53;MQ0=0;MQRankSum=-0.713;QD=12.54;ReadPosRankSum=0.454;SB=-479.67;TI=NM_002661;GI=PLCG2;FC=Synonymous_L99L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,42:86:99:1108,0,1266:53:99:0.488 chr16 81941319 rs1143689 C T 4051.40 PASS DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=50;MQ0=0;QD=25.01;SB=-2886.69;TI=NM_002661;GI=PLCG2;FC=Synonymous_A499A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,162:162:99:4051,283,0:50:99:1.000 chr16 81953081 rs12448130 T C 568.81 LowDP DP=17;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=33.46;SB=-40.65;TI=NM_002661;GI=PLCG2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,17:17:45.15:602,45,0:60:45:1.000 chr16 81971403 rs1071644 T C 670.21 PASS BaseQRankSum=-0.271;DP=66;Dels=0.00;FS=0.929;HRun=0;HaplotypeScore=2.7280;MQ=53;MQ0=0;MQRankSum=0.659;QD=10.15;ReadPosRankSum=1.395;SB=-416.89;TI=NM_002661;GI=PLCG2;FC=Synonymous_N1031N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,29:66:99:700,0,976:53:99:0.439 chr16 82673047 rs4782724 C T 2996.99 PASS BaseQRankSum=1.008;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6378;MQ=52;MQ0=0;MQRankSum=1.323;QD=27.25;ReadPosRankSum=1.701;SB=-1939.21;TI=NM_001257;GI=CDH13;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,109:110:99:3030,186,0:52:99:0.991 chr16 83214480 rs7188594 C A 2177.72 PASS DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4129;MQ=56;MQ0=0;QD=29.04;SB=-1070.91;TI=NM_001257;GI=CDH13;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2211,166,0:56:99:1.000 chr16 83817019 rs1048612 A G 518.84 PASS BaseQRankSum=0.915;DP=70;Dels=0.03;FS=0.000;HRun=4;HaplotypeScore=8.7795;MQ=52;MQ0=0;MQRankSum=2.081;QD=7.41;ReadPosRankSum=1.203;SB=-342.91;TI=NM_001257;GI=CDH13;FC=Synonymous_A692A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,27:68:99:549,0,917:52:99:0.397 chr16 83932746 . C A 9.33 LowGQX;LowGQ;LowDP BaseQRankSum=1.026;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=37;MQ0=0;MQRankSum=-1.026;QD=2.33;ReadPosRankSum=1.026;SB=-34.03;TI=NM_012213;GI=MLYCD;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:19.67:39,0,20:37:9:0.500 chr16 84203730 rs9972733 G C 2583.23 PASS BaseQRankSum=0.448;DP=195;Dels=0.00;FS=1.149;HRun=0;HaplotypeScore=22.4496;MQ=54;MQ0=0;MQRankSum=2.369;QD=13.25;ReadPosRankSum=3.778;SB=-1546.89;TI=NM_178452;GI=LRRC50;FC=Missense_E432D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,99:195:99:2613,0,2320:54:99:0.510 chr16 84209634 rs2288019 C G 3359.69 PASS BaseQRankSum=2.444;DP=219;Dels=0.00;FS=1.053;HRun=0;HaplotypeScore=7.2802;MQ=56;MQ0=0;MQRankSum=2.440;QD=15.34;ReadPosRankSum=0.035;SB=-1758.69;TI=NM_178452;GI=LRRC50;FC=Synonymous_L598L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,121:219:99:3360,0,2692:56:99:0.553 chr16 84212928 rs3743642 G A 2207.59 PASS BaseQRankSum=3.399;DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5211;MQ=56;MQ0=0;MQRankSum=1.698;QD=14.15;ReadPosRankSum=-0.347;SB=-1255.83;TI=NM_005679,NM_139353;GI=TAF1C,TAF1C;FC=Synonymous_P743P,Synonymous_P649P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,79:156:99:2238,0,2034:56:99:0.506 chr16 84213652 rs4150168 G A 1457.72 PASS BaseQRankSum=0.043;DP=133;Dels=0.00;FS=1.391;HRun=0;HaplotypeScore=14.5703;MQ=57;MQ0=0;MQRankSum=-0.565;QD=10.96;ReadPosRankSum=-1.421;SB=-1012.50;TI=NM_005679,NM_139353;GI=TAF1C,TAF1C;FC=Synonymous_P533P,Synonymous_P439P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,64:133:99:1488,0,1748:57:99:0.481 chr16 84217062 rs4782591 C T 4192.91 PASS DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.1455;MQ=54;MQ0=0;QD=28.92;SB=-2707.08;TI=NM_005679,NM_139353;GI=TAF1C,TAF1C;FC=Missense_C91Y,Missense_C24Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:145:99:4193,307,0:54:99:1.000 chr16 84218565 rs2230126 T C 2096.02 PASS BaseQRankSum=1.469;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0428;MQ=55;MQ0=0;MQRankSum=0.451;QD=14.07;ReadPosRankSum=-1.957;SB=-1223.11;TI=NM_005679,NM_139353;GI=TAF1C,TAF1C;FC=Synonymous_A10A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,89:149:99:2126,0,1545:55:99:0.597 chr16 85690000 . CGAGCGT C 3518.09 PASS BaseQRankSum=-1.594;DP=84;FS=3.003;HRun=0;HaplotypeScore=79.5999;MQ=56;MQ0=0;MQRankSum=-0.023;QD=41.88;ReadPosRankSum=0.446;SB=-1121.93;TI=NM_001134473,NM_014615;GI=KIAA0182,KIAA0182;FC=2AA_Deletion,2AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,46:84:99:3518,0,2579:56:99:0.548 chr16 85690878 rs71388003 C CA 6227.16 PASS BaseQRankSum=-1.117;DP=152;FS=0.000;HRun=1;HaplotypeScore=132.9868;MQ=60;MQ0=0;MQRankSum=0.820;QD=40.97;ReadPosRankSum=-0.456;SB=-2610.52;TI=NM_001134473,NM_014615;GI=KIAA0182,KIAA0182;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,150:152:99:6227,416,0:60:99:0.987 chr16 85706047 rs9940601 A C 1336.11 PASS BaseQRankSum=-0.159;DP=89;Dels=0.00;FS=1.809;HRun=0;HaplotypeScore=5.5021;MQ=56;MQ0=0;MQRankSum=-1.150;QD=15.01;ReadPosRankSum=-1.236;SB=-846.52;TI=NM_001134473,NM_014615;GI=KIAA0182,KIAA0182;FC=Synonymous_R1082R,Synonymous_R1186R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,58:89:99:1366,0,680:56:99:0.652 chr16 85838532 rs2733965 A G 8500.69 PASS DP=274;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7682;MQ=56;MQ0=0;QD=31.02;SB=-4160.94;TI=NM_001861;GI=COX4I1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,274:274:99:8501,617,0:56:99:1.000 chr16 85838653 rs2599091 T C 7155.01 PASS DP=229;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4324;MQ=57;MQ0=0;QD=31.24;SB=-3348.80;TI=NM_001861;GI=COX4I1;FC=Synonymous_L62L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,229:229:99:7155,527,0:57:99:1.000 chr16 85948098 rs17444416 G A 1134.54 PASS BaseQRankSum=1.220;DP=117;Dels=0.00;FS=4.659;HRun=0;HaplotypeScore=3.7236;MQ=47;MQ0=0;MQRankSum=-1.687;QD=9.70;ReadPosRankSum=1.544;SB=-738.43;TI=NM_002163;GI=IRF8;FC=Synonymous_G191G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,52:117:99:1165,0,1428:47:99:0.444 chr16 87637893 . CCTGCTGCTGCTGCTG C,CCTGCTGCTGCTGCTGCTGCTG 8722.07 PASS DP=137;FS=0.000;HaplotypeScore=117.0152;MQ=52;MQ0=0;QD=63.66;SB=-2090.86;TI=NM_020655;GI=JPH3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:41,18,0:137:99:8722,5127,17386,3861,0,4818:52:99:0.305 chr16 87678144 rs918368 T C 492.59 PASS BaseQRankSum=1.644;DP=38;Dels=0.00;FS=2.932;HRun=0;HaplotypeScore=3.6716;MQ=58;MQ0=0;MQRankSum=0.147;QD=12.96;ReadPosRankSum=1.350;SB=-275.11;TI=NM_020655;GI=JPH3;FC=Synonymous_S221S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,17:38:99:523,0,679:58:99:0.447 chr16 87723838 rs34767155 T C 1994.14 PASS BaseQRankSum=1.029;DP=168;Dels=0.00;FS=0.572;HRun=4;HaplotypeScore=17.4299;MQ=57;MQ0=0;MQRankSum=2.225;QD=11.87;ReadPosRankSum=-0.335;SB=-1243.12;TI=NM_020655;GI=JPH3;FC=Synonymous_H624H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,84:168:99:2024,0,2054:57:99:0.500 chr16 88494947 rs11648572 T C 7957.10 PASS DP=262;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=6.3369;MQ=56;MQ0=0;QD=30.37;SB=-3901.57;TI=NM_001127464;GI=ZNF469;FC=Missense_S357P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,262:262:99:7957,581,0:56:99:1.000 chr16 88494976 rs11640794 A C 9265.49 PASS DP=330;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=20.1673;MQ=56;MQ0=0;QD=28.08;SB=-5667.10;TI=NM_001127464;GI=ZNF469;FC=Missense_R366S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,330:330:99:9265,668,0:56:99:1.000 chr16 88495407 rs7199961 G C 1370.83 PASS DP=45;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.6101;MQ=57;MQ0=0;QD=30.46;SB=-694.18;TI=NM_001127464;GI=ZNF469;FC=Missense_G510A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:45:99:1404,108,0:57:99:1.000 chr16 88495654 rs12927001 A G 3369.98 PASS DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8414;MQ=55;MQ0=0;QD=27.40;SB=-1698.91;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P592P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:123:99:3370,250,0:55:99:1.000 chr16 88496008 rs12918876 T C 524.04 PASS BaseQRankSum=-0.493;DP=44;Dels=0.00;FS=6.909;HRun=2;HaplotypeScore=8.9575;MQ=54;MQ0=0;MQRankSum=-0.940;QD=11.91;ReadPosRankSum=0.258;SB=-317.53;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P710P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,23:44:99:554,0,625:54:99:0.523 chr16 88497031 rs9924504 T C 1150.58 PASS DP=44;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=53;MQ0=0;QD=26.15;SB=-721.81;TI=NM_001127464;GI=ZNF469;FC=Synonymous_I1051I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:87.26:1184,87,0:53:87:1.000 chr16 88497400 rs9938800 G A 1720.37 PASS BaseQRankSum=1.604;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3460;MQ=56;MQ0=0;MQRankSum=1.540;QD=31.86;ReadPosRankSum=1.412;SB=-678.60;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P1146P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,53:54:99:1753,132,0:56:99:0.981 chr16 88497446 rs7197071 A G 2176.32 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4817;MQ=58;MQ0=0;QD=31.09;SB=-994.28;TI=NM_001127464;GI=ZNF469;FC=Missense_K1162E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:70:99:2209,166,0:58:99:1.000 chr16 88498221 rs4782300 C T 6071.95 PASS BaseQRankSum=1.713;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0704;MQ=57;MQ0=0;MQRankSum=1.674;QD=33.73;ReadPosRankSum=-0.404;SB=-3117.02;TI=NM_001127464;GI=ZNF469;FC=Missense_P1420L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,179:180:99:6072,451,0:57:99:0.994 chr16 88498297 rs12445417 T G 9358.82 PASS DP=303;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.5693;MQ=55;MQ0=0;QD=30.89;SB=-4432.69;TI=NM_001127464;GI=ZNF469;FC=Synonymous_S1445S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,301:303:99:9359,692,0:55:99:1.000 chr16 88499539 rs9931465 C G 6004.64 PASS BaseQRankSum=1.660;DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1783;MQ=56;MQ0=0;MQRankSum=-0.045;QD=31.11;ReadPosRankSum=-1.732;SB=-3689.80;TI=NM_001127464;GI=ZNF469;FC=Synonymous_T1859T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,192:193:99:6005,445,0:56:99:0.995 chr16 88501034 rs12598474 G C 2088.10 PASS BaseQRankSum=1.227;DP=193;Dels=0.00;FS=1.172;HRun=2;HaplotypeScore=10.6324;MQ=55;MQ0=0;MQRankSum=1.347;QD=10.82;ReadPosRankSum=0.832;SB=-1115.16;TI=NM_001127464;GI=ZNF469;FC=Missense_G2358R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,83:193:99:2118,0,3093:55:99:0.430 chr16 88501971 rs3812956 T A 3385.41 PASS BaseQRankSum=0.823;DP=274;Dels=0.00;FS=4.203;HRun=0;HaplotypeScore=11.0595;MQ=55;MQ0=0;MQRankSum=4.554;QD=12.36;ReadPosRankSum=2.964;SB=-1736.91;TI=NM_001127464;GI=ZNF469;FC=Missense_L2670Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:145,128:274:99:3385,0,3740:55:99:0.469 chr16 88502482 rs3812953 C T 3965.46 PASS BaseQRankSum=1.138;DP=334;Dels=0.00;FS=3.610;HRun=2;HaplotypeScore=11.8528;MQ=56;MQ0=0;MQRankSum=1.462;QD=11.87;ReadPosRankSum=-2.459;SB=-2378.81;TI=NM_001127464;GI=ZNF469;FC=Synonymous_R2840R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:179,154:334:99:3965,0,4363:56:99:0.462 chr16 88502505 rs1983014 A G 9250.36 PASS DP=313;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.8420;MQ=56;MQ0=0;QD=29.55;SB=-5739.42;TI=NM_001127464;GI=ZNF469;FC=Missense_H2848R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,313:313:99:9250,674,0:56:99:1.000 chr16 88504850 rs1105066 G C 2137.44 PASS BaseQRankSum=2.433;DP=161;Dels=0.00;FS=3.626;HRun=0;HaplotypeScore=5.7180;MQ=55;MQ0=0;MQRankSum=-0.344;QD=13.28;ReadPosRankSum=1.258;SB=-1336.30;TI=NM_001127464;GI=ZNF469;FC=Missense_E3630Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,85:161:99:2167,0,1985:55:99:0.528 chr16 88504868 rs904783 A G 4112.98 PASS DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8317;MQ=56;MQ0=0;QD=31.40;SB=-2496.10;TI=NM_001127464;GI=ZNF469;FC=Missense_T3636A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:4113,301,0:56:99:1.000 chr16 88505635 rs4782301 A G 975.78 PASS BaseQRankSum=0.659;DP=85;Dels=0.00;FS=2.909;HRun=0;HaplotypeScore=5.3502;MQ=55;MQ0=0;MQRankSum=1.781;QD=11.48;ReadPosRankSum=-0.057;SB=-447.21;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P3891P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,38:85:99:1006,0,1328:55:99:0.447 chr16 88505734 rs4782362 C T 2942.63 PASS DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=56;MQ0=0;QD=28.85;SB=-1591.96;TI=NM_001127464;GI=ZNF469;FC=Synonymous_S3924S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:102:99:2976,217,0:56:99:1.000 chr16 88505748 rs45504291 G A 1206.61 PASS BaseQRankSum=1.887;DP=93;Dels=0.00;FS=1.755;HRun=1;HaplotypeScore=8.2581;MQ=56;MQ0=0;MQRankSum=2.103;QD=12.97;ReadPosRankSum=0.819;SB=-550.44;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,45:93:99:1237,0,1230:56:99:0.484 chr16 88709828 rs1049254 A G 856.79 PASS BaseQRankSum=2.025;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6639;MQ=56;MQ0=0;MQRankSum=0.802;QD=10.08;ReadPosRankSum=1.281;SB=-557.93;TI=NM_000101;GI=CYBA;FC=Missense_V174A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,37:85:99:887,0,1299:56:99:0.435 chr16 88713236 rs4673 A G 1507.31 PASS BaseQRankSum=-1.495;DP=111;Dels=0.00;FS=0.724;HRun=0;HaplotypeScore=7.1527;MQ=54;MQ0=0;MQRankSum=3.769;QD=13.58;ReadPosRankSum=-0.248;SB=-966.64;TI=NM_000101;GI=CYBA;FC=Missense_Y72H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,64:111:99:1537,0,1120:54:99:0.577 chr16 88713501 rs4782393 A G 565.89 PASS BaseQRankSum=2.510;DP=71;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=0.680;QD=7.97;ReadPosRankSum=-0.247;SB=-376.18;TI=NM_000101;GI=CYBA;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,25:71:99:596,0,1052:55:99:0.352 chr16 88717386 rs8053867 T C 1310.70 PASS DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.89;SB=-733.11;TI=NM_000101;GI=CYBA;FC=Synonymous_E12E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:96.32:1344,96,0:52:96:1.000 chr16 88871908 rs1834065 A G 2745.68 PASS BaseQRankSum=0.218;DP=244;Dels=0.00;FS=0.469;HRun=3;HaplotypeScore=9.0424;MQ=54;MQ0=0;MQRankSum=0.876;QD=11.25;ReadPosRankSum=2.384;SB=-2033.41;TI=NM_030928;GI=CDT1;FC=Synonymous_G183G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,125:244:99:2776,0,2874:54:99:0.512 chr16 88872145 rs507329 T C 7480.02 PASS DP=262;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.6704;MQ=55;MQ0=0;QD=28.55;SB=-4759.74;TI=NM_030928;GI=CDT1;FC=Missense_C234R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,262:262:99:7480,542,0:55:99:1.000 chr16 88872229 rs480727 A G 2599.50 PASS BaseQRankSum=1.245;DP=212;Dels=0.00;FS=1.706;HRun=0;HaplotypeScore=12.1441;MQ=55;MQ0=0;MQRankSum=1.408;QD=12.26;ReadPosRankSum=-0.245;SB=-1527.81;TI=NM_030928;GI=CDT1;FC=Missense_T262A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,110:212:99:2629,0,2545:55:99:0.519 chr16 88872511 rs510862 T C 6486.45 PASS DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9874;MQ=54;MQ0=0;QD=29.22;SB=-2806.05;TI=NM_030928;GI=CDT1;FC=Synonymous_H305H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,222:222:99:6486,470,0:54:99:1.000 chr16 88874632 rs572275 C G 601.48 PASS BaseQRankSum=0.696;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=2.802;QD=11.57;ReadPosRankSum=0.751;SB=-325.67;TI=NM_030928;GI=CDT1;FC=Synonymous_L529L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,25:52:99:631,0,611:53:99:0.481 chr16 88884466 rs2303271 C T 1448.37 PASS BaseQRankSum=0.171;DP=125;Dels=0.00;FS=0.670;HRun=1;HaplotypeScore=4.5658;MQ=55;MQ0=0;MQRankSum=-0.215;QD=11.59;ReadPosRankSum=-0.587;SB=-1077.13;TI=NM_000512;GI=GALNS;FC=Synonymous_E477E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,67:125:99:1478,0,1264:55:99:0.536 chr16 88902183 rs1064315 G A 1492.48 PASS BaseQRankSum=0.573;DP=136;Dels=0.00;FS=5.178;HRun=0;HaplotypeScore=8.6082;MQ=53;MQ0=0;MQRankSum=2.234;QD=10.97;ReadPosRankSum=1.288;SB=-1033.64;TI=NM_000512;GI=GALNS;FC=Synonymous_H236H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,64:136:99:1522,0,1817:53:99:0.471 chr16 89167066 rs57558972 C G 134.43 LowGQ;SB;LowDP DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=26.89;SB=-0.01;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:15.04:167,15,0:29:15:1.000 chr16 89167075 rs11273288 C CCCCAGGAGGCTCCCGGGAG 1070.23 LowGQ;SB;LowDP DP=5;FS=0.000;HRun=0;HaplotypeScore=45.2017;MQ=29;MQ0=0;QD=214.05;SB=-0.00;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:15.05:1112,15,0:29:15:1.000 chr16 89167094 rs7188200 T C 386.99 SB;LowDP DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=42;MQ0=0;QD=32.25;SB=-0.01;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Silent,Missense_L2P,Missense_L2P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,12:12:36.10:420,36,0:42:36:1.000 chr16 89167140 rs7201122 G C 883.65 PASS DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6186;MQ=54;MQ0=0;QD=31.56;SB=-110.55;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Silent,Synonymous_A17A,Synonymous_A17A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,28:28:72.22:917,72,0:54:72:1.000 chr16 89167395 rs6500526 C T 1719.39 PASS DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3776;MQ=56;MQ0=0;QD=33.71;SB=-808.02;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Silent,Synonymous_C102C,Synonymous_C102C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:99:1752,132,0:56:99:1.000 chr16 89167404 rs7193255 T C 1943.02 PASS DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5109;MQ=57;MQ0=0;QD=32.93;SB=-1039.32;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Silent,Synonymous_D105D,Synonymous_D105D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1976,150,0:57:99:1.000 chr16 89167431 rs6500527 G C 1852.22 PASS BaseQRankSum=1.493;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=1.673;QD=31.93;ReadPosRankSum=-0.119;SB=-971.26;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Silent,Synonymous_A114A,Synonymous_A114A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,57:58:99:1885,141,0:57:99:0.983 chr16 89167443 rs6500528 T C 2062.15 PASS DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=31.73;SB=-1171.02;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Silent,Synonymous_S118S,Synonymous_S118S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:2095,156,0:56:99:1.000 chr16 89167458 rs6500529 C A 2458.59 PASS DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4144;MQ=55;MQ0=0;QD=31.52;SB=-1249.85;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Silent,Synonymous_V123V,Synonymous_V123V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2492,184,0:55:99:1.000 chr16 89178494 rs76096111 T C 10.85 LowVariantFreq;SB BaseQRankSum=2.164;DP=38;Dels=0.00;FS=4.839;HRun=1;HaplotypeScore=0.0000;MQ=36;MQ0=0;MQRankSum=-1.831;QD=0.29;ReadPosRankSum=-2.783;SB=-0.01;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,4:38:40.47:40,0,921:36:11:0.105 chr16 89180883 rs3743979 G A 8660.20 PASS DP=310;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2836;MQ=54;MQ0=0;QD=27.94;SB=-5269.92;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Silent,Missense_V372M,Missense_V372M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,309:310:99:8660,623,0:54:99:1.000 chr16 89199651 rs12447947 G A 830.85 PASS BaseQRankSum=-0.457;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=53;MQ0=0;MQRankSum=1.926;QD=9.66;ReadPosRankSum=-1.300;SB=-605.21;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Silent,Synonymous_L449L,Synonymous_L449L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,38:86:99:861,0,1207:53:99:0.442 chr16 89220973 . C CAAAT 13838.58 PASS DP=201;FS=0.000;HRun=0;HaplotypeScore=164.4239;MQ=56;MQ0=0;QD=68.85;SB=-6708.12;TI=NR_023316,NM_001127214,NM_174917;GI=ACSF3,ACSF3,ACSF3;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,197:200:99:13839,602,0:56:99:0.980 chr16 89256695 rs72819366 G A 518.63 PASS BaseQRankSum=0.921;DP=40;Dels=0.00;FS=1.403;HRun=0;HaplotypeScore=0.8667;MQ=58;MQ0=0;MQRankSum=-1.273;QD=12.97;ReadPosRankSum=0.433;SB=-168.21;TI=NM_004933;GI=CDH15;FC=Synonymous_S341S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,21:40:99:549,0,495:58:99:0.525 chr16 89258747 rs75791347 A C 587.57 PASS BaseQRankSum=2.142;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1584;MQ=54;MQ0=0;MQRankSum=0.466;QD=12.24;ReadPosRankSum=-0.341;SB=-331.72;TI=NM_004933;GI=CDH15;FC=Missense_K584Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,26:48:99:618,0,547:54:99:0.542 chr16 89259993 rs3815615 A G 1236.50 PASS BaseQRankSum=1.657;DP=116;Dels=0.00;FS=3.599;HRun=2;HaplotypeScore=16.3699;MQ=51;MQ0=0;MQRankSum=0.698;QD=10.66;ReadPosRankSum=0.527;SB=-753.13;TI=NM_004933;GI=CDH15;FC=Synonymous_Q657Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,53:116:99:1266,0,1618:51:99:0.457 chr16 89260195 rs62068507 G A 1628.24 PASS BaseQRankSum=1.489;DP=98;Dels=0.00;FS=0.827;HRun=1;HaplotypeScore=3.4250;MQ=53;MQ0=0;MQRankSum=0.399;QD=16.61;ReadPosRankSum=0.974;SB=-831.08;TI=NM_004933;GI=CDH15;FC=Synonymous_P675P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,64:98:99:1658,0,877:53:99:0.653 chr16 89350038 rs2279348 G A 6939.60 PASS DP=215;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.5475;MQ=57;MQ0=0;QD=32.28;SB=-3988.00;TI=NM_013275;GI=ANKRD11;FC=Missense_A971V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,214:215:99:6940,515,0:57:99:1.000 chr16 89350178 rs2279349 G A 9818.81 PASS DP=354;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1826;MQ=56;MQ0=0;QD=27.74;SB=-6143.58;TI=NM_013275;GI=ANKRD11;FC=Synonymous_T924T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,352:354:99:9819,710,0:56:99:1.000 chr16 89379936 rs3102350 T C 988.09 PASS DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=28.23;SB=-600.60;TI=NM_013275;GI=ANKRD11;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:35:75.23:1021,75,0:58:75:1.000 chr16 89597221 rs4785691 A G 815.36 PASS BaseQRankSum=-0.325;DP=53;Dels=0.00;FS=1.141;HRun=0;HaplotypeScore=2.7605;MQ=59;MQ0=0;MQRankSum=0.436;QD=15.38;ReadPosRankSum=0.158;SB=-426.28;TI=NM_199367,NM_003119;GI=SPG7,SPG7;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,34:53:99:845,0,472:59:99:0.642 chr16 89613123 rs2292954 A G 1460.96 PASS BaseQRankSum=-0.301;DP=115;Dels=0.00;FS=4.645;HRun=0;HaplotypeScore=2.6548;MQ=52;MQ0=0;MQRankSum=1.117;QD=12.70;ReadPosRankSum=-0.746;SB=-983.38;TI=NM_003119;GI=SPG7;FC=Missense_T503A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,64:115:99:1491,0,1283:52:99:0.557 chr16 89620328 rs12960 G A 1350.75 PASS BaseQRankSum=1.028;DP=165;Dels=0.00;FS=1.298;HRun=0;HaplotypeScore=5.7967;MQ=55;MQ0=0;MQRankSum=1.943;QD=8.19;ReadPosRankSum=0.464;SB=-707.86;TI=NM_003119;GI=SPG7;FC=Missense_R688Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,59:165:99:1381,0,2474:55:99:0.358 chr16 89985844 rs1805005 G T 2600.39 PASS BaseQRankSum=2.586;DP=228;Dels=0.00;FS=2.953;HRun=1;HaplotypeScore=6.4147;MQ=55;MQ0=0;MQRankSum=1.720;QD=11.41;ReadPosRankSum=-1.859;SB=-1568.08;TI=NM_002386;GI=MC1R;FC=Missense_V60L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,106:228:99:2630,0,2900:55:99:0.465 chr16 89985913 rs34474212 T C 2045.94 PASS BaseQRankSum=2.920;DP=174;Dels=0.00;FS=4.427;HRun=1;HaplotypeScore=16.8556;MQ=57;MQ0=0;MQRankSum=2.456;QD=11.76;ReadPosRankSum=-0.267;SB=-1357.03;TI=NM_002386;GI=MC1R;FC=Missense_S83P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,82:174:99:2076,0,2350:57:99:0.471 chr17 648157 rs1045481 G A 2508.19 PASS BaseQRankSum=0.097;DP=195;Dels=0.00;FS=1.833;HRun=1;HaplotypeScore=3.7560;MQ=54;MQ0=0;MQRankSum=-0.082;QD=12.86;ReadPosRankSum=-2.498;SB=-1297.01;TI=NM_015721;GI=GEMIN4;FC=Synonymous_I1042I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,101:195:99:2538,0,2360:54:99:0.521 chr17 648186 rs7813 G A 2514.76 PASS BaseQRankSum=1.000;DP=205;Dels=0.00;FS=1.086;HRun=0;HaplotypeScore=6.3878;MQ=56;MQ0=0;MQRankSum=3.270;QD=12.27;ReadPosRankSum=-0.458;SB=-1587.70;TI=NM_015721;GI=GEMIN4;FC=Missense_R1033C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,102:205:99:2545,0,2566:56:99:0.498 chr17 648498 rs2740349 C T 6781.97 PASS DP=233;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=28.1060;MQ=56;MQ0=0;QD=29.11;SB=-4116.42;TI=NM_015721;GI=GEMIN4;FC=Missense_D929N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,231:232:99:6782,503,0:56:99:1.000 chr17 649232 rs3744741 C T 2930.46 PASS BaseQRankSum=2.332;DP=215;Dels=0.00;FS=0.509;HRun=1;HaplotypeScore=12.0850;MQ=57;MQ0=0;MQRankSum=0.924;QD=13.63;ReadPosRankSum=0.502;SB=-1479.08;TI=NM_015721;GI=GEMIN4;FC=Missense_R684Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,101:215:99:2960,0,2996:57:99:0.470 chr17 649505 rs4968104 T A 2284.00 PASS BaseQRankSum=1.945;DP=193;Dels=0.00;FS=11.029;HRun=0;HaplotypeScore=4.5737;MQ=57;MQ0=0;MQRankSum=1.141;QD=11.83;ReadPosRankSum=-1.157;SB=-1272.71;TI=NM_015721;GI=GEMIN4;FC=Missense_E593V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,89:193:99:2314,0,2741:57:99:0.461 chr17 649547 rs910925 G C 2719.63 PASS BaseQRankSum=2.420;DP=180;Dels=0.00;FS=13.289;HRun=2;HaplotypeScore=10.6194;MQ=57;MQ0=0;MQRankSum=-0.893;QD=15.11;ReadPosRankSum=2.021;SB=-1586.84;TI=NM_015721;GI=GEMIN4;FC=Missense_A579G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,103:180:99:2750,0,2049:57:99:0.572 chr17 649935 rs2740348 G C 7606.81 PASS BaseQRankSum=1.689;DP=245;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.7526;MQ=57;MQ0=0;MQRankSum=0.549;QD=31.05;ReadPosRankSum=0.264;SB=-4501.33;TI=NM_015721;GI=GEMIN4;FC=Missense_Q450E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,242:245:99:7607,563,0:57:99:0.996 chr17 1359363 rs2229075 T G 3109.76 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=53;MQ0=0;QD=27.04;SB=-1950.21;TI=NM_016823,NM_005206;GI=CRK,CRK;FC=Synonymous_R17R,Synonymous_R17R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3143,226,0:53:99:1.000 chr17 1370542 rs2302458 C A 1116.28 PASS BaseQRankSum=-1.372;DP=75;Dels=0.00;FS=3.209;HRun=1;HaplotypeScore=7.2736;MQ=55;MQ0=0;MQRankSum=1.834;QD=14.88;ReadPosRankSum=1.888;SB=-622.40;TI=NM_001080950,NM_033375,NM_001080779;GI=MYO1C,MYO1C,MYO1C;FC=Synonymous_L1034L,Synonymous_L1018L,Synonymous_L1053L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,44:75:99:1146,0,775:55:99:0.587 chr17 1371123 rs8072859 T C 1568.63 PASS DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.7475;MQ=46;MQ0=0;QD=28.01;SB=-857.16;TI=NM_001080950,NM_033375,NM_001080779;GI=MYO1C,MYO1C,MYO1C;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:1602,120,0:46:99:1.000 chr17 1373518 rs9905106 T C 1896.72 PASS DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8640;MQ=52;MQ0=0;QD=30.11;SB=-742.53;TI=NM_001080950,NM_033375,NM_001080779;GI=MYO1C,MYO1C,MYO1C;FC=Missense_Q807R,Missense_Q791R,Missense_Q826R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1930,147,0:52:99:1.000 chr17 1373612 rs8081370 C T 1576.72 PASS DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.4314;MQ=54;MQ0=0;QD=32.18;SB=-431.86;TI=NM_001080950,NM_033375,NM_001080779;GI=MYO1C,MYO1C,MYO1C;FC=Missense_V776I,Missense_V760I,Missense_V795I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:49:99:1610,126,0:54:99:1.000 chr17 1377943 rs2286873 A G 1145.89 PASS BaseQRankSum=1.023;DP=108;Dels=0.00;FS=0.751;HRun=0;HaplotypeScore=7.4416;MQ=53;MQ0=0;MQRankSum=0.851;QD=10.61;ReadPosRankSum=1.041;SB=-730.21;TI=NM_001080950,NM_033375,NM_001080779;GI=MYO1C,MYO1C,MYO1C;FC=Synonymous_F567F,Synonymous_F551F,Synonymous_F586F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,54:108:99:1176,0,1315:53:99:0.500 chr17 1384066 rs4790518 A G 1744.30 PASS DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1770;MQ=55;MQ0=0;QD=30.60;SB=-697.97;TI=NM_001080950,NM_033375,NM_001080779;GI=MYO1C,MYO1C,MYO1C;FC=Synonymous_G228G,Synonymous_G212G,Synonymous_G247G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:57:99:1777,135,0:55:99:1.000 chr17 1387472 rs11538156 C T 2071.92 PASS BaseQRankSum=1.617;DP=189;Dels=0.00;FS=2.529;HRun=0;HaplotypeScore=15.5814;MQ=52;MQ0=0;MQRankSum=1.958;QD=10.96;ReadPosRankSum=-0.695;SB=-1350.92;TI=NM_001080950,NM_033375,NM_001080779;GI=MYO1C,MYO1C,MYO1C;FC=Synonymous_L48L,Synonymous_L32L,Synonymous_L67L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,91:189:99:2102,0,2164:52:99:0.484 chr17 1565211 . T C 1269.89 PASS BaseQRankSum=2.308;DP=70;Dels=0.00;FS=0.955;HRun=0;HaplotypeScore=1.7333;MQ=58;MQ0=0;MQRankSum=1.253;QD=18.14;ReadPosRankSum=1.672;SB=-580.40;TI=NM_006445;GI=PRPF8;FC=Synonymous_Q1337Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,42:70:99:1300,0,758:58:99:0.600 chr17 1576369 rs11078563 C T 655.46 PASS BaseQRankSum=0.005;DP=75;Dels=0.00;FS=5.025;HRun=1;HaplotypeScore=5.5703;MQ=50;MQ0=0;MQRankSum=-1.921;QD=8.74;ReadPosRankSum=-0.974;SB=-381.77;TI=NM_006445;GI=PRPF8;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,31:75:99:685,0,1160:50:99:0.413 chr17 1578939 rs33965342 C T 480.38 PASS BaseQRankSum=-1.328;DP=48;Dels=0.00;FS=6.794;HRun=0;HaplotypeScore=8.2126;MQ=55;MQ0=0;MQRankSum=0.868;QD=10.01;ReadPosRankSum=1.328;SB=-102.71;TI=NM_006445;GI=PRPF8;FC=Synonymous_P949P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,20:48:99:510,0,732:55:99:0.417 chr17 1580929 rs11078565 G C 653.83 PASS BaseQRankSum=0.459;DP=54;Dels=0.00;FS=3.855;HRun=0;HaplotypeScore=3.7787;MQ=53;MQ0=0;MQRankSum=1.359;QD=12.11;ReadPosRankSum=-0.805;SB=-331.01;TI=NM_006445;GI=PRPF8;FC=Synonymous_L638L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,28:54:99:684,0,684:53:99:0.519 chr17 1584324 rs7503397 A G 1332.60 PASS BaseQRankSum=0.460;DP=94;Dels=0.00;FS=2.910;HRun=0;HaplotypeScore=16.1704;MQ=49;MQ0=0;MQRankSum=1.476;QD=14.18;ReadPosRankSum=1.060;SB=-847.75;TI=NM_006445;GI=PRPF8;FC=Synonymous_N297N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,56:94:99:1363,0,803:49:99:0.609 chr17 1585130 rs11559305 A G 835.74 PASS BaseQRankSum=1.863;DP=65;Dels=0.00;FS=0.956;HRun=0;HaplotypeScore=4.4949;MQ=56;MQ0=0;MQRankSum=2.307;QD=12.86;ReadPosRankSum=1.487;SB=-557.66;TI=NM_006445;GI=PRPF8;FC=Synonymous_L213L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,34:65:99:866,0,848:56:99:0.531 chr17 1629969 rs80035274 C T 2362.65 PASS BaseQRankSum=-1.385;DP=212;Dels=0.00;FS=1.720;HRun=0;HaplotypeScore=10.1127;MQ=55;MQ0=0;MQRankSum=1.755;QD=11.14;ReadPosRankSum=-1.051;SB=-1198.29;TI=NM_152348,NM_001163673,NM_001163811,NM_001163809;GI=WDR81,WDR81,WDR81,WDR81;FC=Silent,Silent,Silent,Synonymous_H572H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,93:212:99:2393,0,3314:55:99:0.439 chr17 1637074 rs3809871 A G 2153.91 PASS BaseQRankSum=3.477;DP=163;Dels=0.00;FS=4.796;HRun=0;HaplotypeScore=15.0860;MQ=58;MQ0=0;MQRankSum=0.646;QD=13.21;ReadPosRankSum=0.327;SB=-968.54;TI=NM_152348,NM_001163673,NM_001163811,NM_001163809;GI=WDR81,WDR81,WDR81,WDR81;FC=Synonymous_P530P,Synonymous_P378P,Synonymous_P354P,Synonymous_P1581P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,83:163:99:2184,0,2071:58:99:0.509 chr17 1637302 rs3809872 A G 2791.16 PASS BaseQRankSum=1.217;DP=202;Dels=0.00;FS=4.171;HRun=0;HaplotypeScore=15.7240;MQ=56;MQ0=0;MQRankSum=2.075;QD=13.82;ReadPosRankSum=2.805;SB=-1174.01;TI=NM_152348,NM_001163673,NM_001163811,NM_001163809;GI=WDR81,WDR81,WDR81,WDR81;FC=Synonymous_L606L,Synonymous_L454L,Synonymous_L430L,Synonymous_L1657L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,99:202:99:2821,0,2524:56:99:0.495 chr17 1639458 rs11549259 A G 2318.68 PASS BaseQRankSum=1.216;DP=176;Dels=0.00;FS=3.482;HRun=2;HaplotypeScore=8.0428;MQ=57;MQ0=0;MQRankSum=-0.588;QD=13.17;ReadPosRankSum=2.907;SB=-1367.44;TI=NM_152348,NM_001163673,NM_001163811,NM_001163809;GI=WDR81,WDR81,WDR81,WDR81;FC=Synonymous_T766T,Synonymous_T614T,Synonymous_T590T,Synonymous_T1817T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,92:176:99:2349,0,2169:57:99:0.523 chr17 1640709 rs1045794 C T 2590.16 PASS BaseQRankSum=0.427;DP=237;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=52;MQ0=0;MQRankSum=0.672;QD=10.93;ReadPosRankSum=-0.041;SB=-1516.90;TI=NM_152348,NM_001163673,NM_001163811,NM_001163809;GI=WDR81,WDR81,WDR81,WDR81;FC=Synonymous_T801T,Synonymous_T649T,Synonymous_T625T,Synonymous_T1852T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,108:237:99:2620,0,3109:52:99:0.456 chr17 1648294 rs2070862 C T 985.69 PASS BaseQRankSum=0.414;DP=95;Dels=0.00;FS=11.304;HRun=0;HaplotypeScore=1.7882;MQ=51;MQ0=0;MQRankSum=0.893;QD=10.38;ReadPosRankSum=-0.004;SB=-239.50;TI=NM_001165921,NM_000934,NM_001165920;GI=SERPINF2,SERPINF2,SERPINF2;FC=Missense_A2V,Missense_A2V,Missense_A2V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,38:95:99:1016,0,1389:51:99:0.400 chr17 1673276 rs1136287 C T 2061.14 PASS DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9877;MQ=54;MQ0=0;QD=27.12;SB=-1187.72;TI=NM_002615;GI=SERPINF1;FC=Missense_T72M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:76:99:2094,150,0:54:99:1.000 chr17 1680002 rs6828 T C 569.86 PASS BaseQRankSum=0.083;DP=56;Dels=0.00;FS=4.079;HRun=0;HaplotypeScore=6.3030;MQ=57;MQ0=0;MQRankSum=2.415;QD=10.18;ReadPosRankSum=-1.366;SB=-186.70;TI=NM_002615;GI=SERPINF1;FC=Synonymous_Y321Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,23:56:99:600,0,745:57:99:0.411 chr17 1733399 rs5030749 A G 121.07 LowGQ;LowDP DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=20.18;SB=-78.45;TI=NM_002945;GI=RPA1;FC=Synonymous_Q4Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:12.04:154,12,0:56:12:1.000 chr17 1795180 rs2230931 T C 1289.29 PASS BaseQRankSum=0.234;DP=105;Dels=0.00;FS=3.643;HRun=1;HaplotypeScore=7.2717;MQ=53;MQ0=0;MQRankSum=1.267;QD=12.28;ReadPosRankSum=1.716;SB=-828.76;TI=NM_002945;GI=RPA1;FC=Synonymous_S535S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,55:105:99:1319,0,1201:53:99:0.524 chr17 1968983 rs2232486 T C 5408.30 PASS BaseQRankSum=-0.366;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6811;MQ=54;MQ0=0;MQRankSum=-1.116;QD=30.05;ReadPosRankSum=-0.558;SB=-2840.87;TI=NM_001170957,NM_017575;GI=SMG6,SMG6;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,179:180:99:5408,360,0:54:99:0.994 chr17 2091765 rs903160 C T 2750.49 PASS DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=55;MQ0=0;QD=30.56;SB=-1424.13;TI=NM_001170957,NM_017575;GI=SMG6,SMG6;FC=Missense_A941T,Missense_A972T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2783,205,0:55:99:1.000 chr17 2570480 . T C 285.31 PASS BaseQRankSum=1.540;DP=36;Dels=0.00;FS=1.331;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-0.193;QD=7.93;ReadPosRankSum=-0.545;SB=-215.68;TI=NM_000430;GI=PAFAH1B1;FC=Synonymous_D129D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,15:36:99:315,0,576:57:99:0.417 chr17 3422032 rs7216486 G A 1623.15 PASS BaseQRankSum=-0.403;DP=129;Dels=0.00;FS=2.306;HRun=0;HaplotypeScore=3.7872;MQ=58;MQ0=0;MQRankSum=0.299;QD=12.58;ReadPosRankSum=-0.799;SB=-879.82;TI=NM_145068;GI=TRPV3;FC=Synonymous_D641D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,62:129:99:1653,0,1710:58:99:0.481 chr17 3436080 rs395357 C T 779.25 PASS BaseQRankSum=0.852;DP=47;Dels=0.00;FS=1.184;HRun=0;HaplotypeScore=0.9894;MQ=55;MQ0=0;MQRankSum=-0.210;QD=16.58;ReadPosRankSum=1.317;SB=-411.46;TI=NM_145068;GI=TRPV3;FC=Synonymous_T312T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,30:47:99:809,0,426:55:99:0.638 chr17 3445901 rs11078458 T G 2157.46 PASS BaseQRankSum=1.959;DP=175;Dels=0.00;FS=0.558;HRun=0;HaplotypeScore=9.9915;MQ=56;MQ0=0;MQRankSum=0.861;QD=12.33;ReadPosRankSum=-0.652;SB=-1364.99;TI=NM_145068;GI=TRPV3;FC=Synonymous_I186I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,88:175:99:2187,0,1959:56:99:0.503 chr17 3446885 rs322937 T C 575.05 PASS BaseQRankSum=-0.426;DP=51;Dels=0.00;FS=2.461;HRun=2;HaplotypeScore=1.7608;MQ=55;MQ0=0;MQRankSum=0.861;QD=11.28;ReadPosRankSum=-0.180;SB=-357.51;TI=NM_145068;GI=TRPV3;FC=Missense_R117G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,23:51:99:605,0,658:55:99:0.451 chr17 3447914 rs1039519 C T 659.96 PASS BaseQRankSum=0.730;DP=83;Dels=0.00;FS=0.856;HRun=1;HaplotypeScore=7.4990;MQ=52;MQ0=0;MQRankSum=1.078;QD=7.95;ReadPosRankSum=3.121;SB=-466.94;TI=NM_145068;GI=TRPV3;FC=Synonymous_Q90Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,31:83:99:690,0,1263:52:99:0.373 chr17 3458072 rs322965 T C 2143.58 PASS DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4197;MQ=55;MQ0=0;QD=26.14;SB=-1583.98;TI=NM_145068;GI=TRPV3;FC=Missense_I25V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2177,156,0:55:99:1.000 chr17 3475405 rs224549 C T 2279.01 PASS DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=30.39;SB=-902.60;TI=NM_080706,NM_080705,NM_018727,NM_080704;GI=TRPV1,TRPV1,TRPV1,TRPV1;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2312,172,0:57:99:1.000 chr17 3486702 rs224534 G A 3298.65 PASS DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2046;MQ=52;MQ0=0;QD=27.95;SB=-2161.90;TI=NM_080706,NM_080705,NM_018727,NM_080704;GI=TRPV1,TRPV1,TRPV1,TRPV1;FC=Missense_T469I,Missense_T469I,Missense_T469I,Missense_T469I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,118:118:99:3299,241,0:52:99:1.000 chr17 3493200 rs222747 C G 794.67 PASS BaseQRankSum=2.112;DP=79;Dels=0.00;FS=0.927;HRun=1;HaplotypeScore=20.3070;MQ=56;MQ0=0;MQRankSum=1.583;QD=10.06;ReadPosRankSum=0.794;SB=-370.74;TI=NM_080706,NM_080705,NM_018727,NM_080704;GI=TRPV1,TRPV1,TRPV1,TRPV1;FC=Missense_M315I,Missense_M315I,Missense_M315I,Missense_M315I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,32:79:99:825,0,1100:56:99:0.405 chr17 3494361 rs222748 G A 466.20 PASS BaseQRankSum=0.917;DP=35;Dels=0.00;FS=6.835;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=0.750;QD=13.32;ReadPosRankSum=0.583;SB=-21.95;TI=NM_080706,NM_080705,NM_018727,NM_080704;GI=TRPV1,TRPV1,TRPV1,TRPV1;FC=Synonymous_H167H,Synonymous_H167H,Synonymous_H167H,Synonymous_H167H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,15:35:99:496,0,601:58:99:0.429 chr17 3495374 rs222749 G A 920.08 PASS BaseQRankSum=-1.297;DP=69;Dels=0.00;FS=1.057;HRun=0;HaplotypeScore=2.6510;MQ=55;MQ0=0;MQRankSum=-0.030;QD=13.33;ReadPosRankSum=0.802;SB=-327.53;TI=NM_080706,NM_080705,NM_018727,NM_080704;GI=TRPV1,TRPV1,TRPV1,TRPV1;FC=Missense_P91S,Missense_P91S,Missense_P91S,Missense_P91S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,38:69:99:950,0,862:55:99:0.551 chr17 3559823 rs1800528 G A 1311.39 PASS BaseQRankSum=0.708;DP=129;Dels=0.00;FS=10.384;HRun=0;HaplotypeScore=21.6461;MQ=46;MQ0=0;MQRankSum=0.606;QD=10.17;ReadPosRankSum=-0.353;SB=-450.98;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Synonymous_T168T,Synonymous_T168T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,55:129:99:1341,0,1621:46:99:0.433 chr17 3561396 rs161400 C T 1183.50 PASS BaseQRankSum=1.742;DP=126;Dels=0.00;FS=3.309;HRun=0;HaplotypeScore=7.3520;MQ=54;MQ0=0;MQRankSum=1.003;QD=9.39;ReadPosRankSum=-2.059;SB=-694.19;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Missense_T260I,Missense_T260I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,52:126:99:1213,0,1831:54:99:0.413 chr17 3594276 rs5818907 TG T 3352.89 PASS DP=89;FS=0.000;HRun=5;HaplotypeScore=133.2149;MQ=54;MQ0=0;QD=37.67;SB=-1553.72;TI=NM_002561,NM_175080,NM_175081;GI=P2RX5,P2RX5,P2RX5;FC=Frameshift,Noncoding,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,86:89:99:3353,265,0:54:99:0.966 chr17 3631241 rs2976230 A G 1537.85 PASS BaseQRankSum=2.101;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6549;MQ=55;MQ0=0;MQRankSum=1.950;QD=13.73;ReadPosRankSum=0.902;SB=-520.26;TI=NM_002208;GI=ITGAE;FC=Missense_V1019A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,55:112:99:1568,0,1450:55:99:0.491 chr17 3631473 rs7219600 C G 1614.01 PASS BaseQRankSum=0.089;DP=128;Dels=0.00;FS=0.717;HRun=0;HaplotypeScore=4.5758;MQ=54;MQ0=0;MQRankSum=0.712;QD=12.61;ReadPosRankSum=-1.205;SB=-713.86;TI=NM_002208;GI=ITGAE;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,67:128:99:1644,0,1681:54:99:0.528 chr17 3649214 rs1183610 G A 4571.75 PASS DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5109;MQ=55;MQ0=0;QD=27.54;SB=-2668.99;TI=NM_002208;GI=ITGAE;FC=Synonymous_R721R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,165:166:99:4572,334,0:55:99:1.000 chr17 3654980 rs11652878 A G 1759.50 PASS BaseQRankSum=1.927;DP=144;Dels=0.00;FS=3.273;HRun=0;HaplotypeScore=3.7574;MQ=54;MQ0=0;MQRankSum=2.195;QD=12.22;ReadPosRankSum=-0.086;SB=-576.81;TI=NM_002208;GI=ITGAE;FC=Synonymous_N619N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,66:144:99:1789,0,2013:54:99:0.458 chr17 3657159 rs2272606 C T 2997.51 PASS BaseQRankSum=0.517;DP=270;Dels=0.00;FS=1.491;HRun=0;HaplotypeScore=11.0407;MQ=54;MQ0=0;MQRankSum=1.961;QD=11.10;ReadPosRankSum=-0.045;SB=-1822.39;TI=NM_002208;GI=ITGAE;FC=Missense_R482Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,128:270:99:3028,0,3499:54:99:0.476 chr17 3657175 rs220479 T C 7069.30 PASS BaseQRankSum=-0.049;DP=250;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4275;MQ=54;MQ0=0;MQRankSum=-0.355;QD=28.28;ReadPosRankSum=-0.995;SB=-3895.97;TI=NM_002208;GI=ITGAE;FC=Missense_I477V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,248:250:99:7069,471,0:54:99:0.996 chr17 3664477 rs10687117 A AATT 3183.79 PASS BaseQRankSum=-0.913;DP=99;FS=0.777;HRun=0;HaplotypeScore=95.5075;MQ=57;MQ0=0;MQRankSum=0.970;QD=32.16;ReadPosRankSum=0.217;SB=-1421.20;TI=NM_002208;GI=ITGAE;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,55:99:99:3223,0,2207:57:99:0.567 chr17 3775848 rs7214723 T C 3295.23 PASS DP=120;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7815;MQ=51;MQ0=0;QD=27.46;SB=-2202.17;TI=NM_172206,NM_032294,NM_172207;GI=CAMKK1,CAMKK1,CAMKK1;FC=Unknown_375,Unknown_375,Unknown_413;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:120:99:3295,235,0:51:99:1.000 chr17 3775916 rs7214864 T C 4162.32 PASS DP=156;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7209;MQ=51;MQ0=0;QD=26.68;SB=-2716.70;TI=NM_172206,NM_032294,NM_172207;GI=CAMKK1,CAMKK1,CAMKK1;FC=Synonymous_P352P,Synonymous_P352P,Synonymous_P390P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,156:156:99:4162,295,0:51:99:1.000 chr17 3787726 rs3809803 G A 1259.19 PASS BaseQRankSum=1.407;DP=96;Dels=0.00;FS=6.814;HRun=0;HaplotypeScore=4.7519;MQ=52;MQ0=0;MQRankSum=0.442;QD=13.12;ReadPosRankSum=-0.950;SB=-685.66;TI=NM_172206,NM_032294,NM_172207;GI=CAMKK1,CAMKK1,CAMKK1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,53:96:99:1289,0,895:52:99:0.552 chr17 3828702 rs887387 T C 806.55 PASS BaseQRankSum=1.264;DP=90;Dels=0.00;FS=1.724;HRun=1;HaplotypeScore=3.6443;MQ=49;MQ0=0;MQRankSum=0.527;QD=8.96;ReadPosRankSum=-3.152;SB=-623.51;TI=NM_174954,NM_174958,NM_174957,NM_174955,NM_005173,NM_174953,NM_174956;GI=ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3;FC=Silent,Silent,Silent,Synonymous_R1034R,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,41:90:99:837,0,1170:49:99:0.456 chr17 3839685 rs1062683 G A 641.36 PASS BaseQRankSum=-0.118;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.654;QD=9.43;ReadPosRankSum=-2.910;SB=-336.49;TI=NM_174954,NM_174958,NM_174957,NM_174955,NM_005173,NM_174953,NM_174956;GI=ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3;FC=Synonymous_D800D,Synonymous_D800D,Synonymous_D800D,Synonymous_D800D,Synonymous_D800D,Synonymous_D800D,Synonymous_D800D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,28:68:99:671,0,947:54:99:0.412 chr17 3840928 rs3179783 A G 165.09 SB;LowDP BaseQRankSum=0.352;DP=17;Dels=0.00;FS=2.884;HRun=1;HaplotypeScore=2.7165;MQ=58;MQ0=0;MQRankSum=1.558;QD=9.71;ReadPosRankSum=0.754;SB=-0.01;TI=NM_174954,NM_174958,NM_174957,NM_174955,NM_005173,NM_174953,NM_174956;GI=ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3;FC=Synonymous_T701T,Synonymous_T701T,Synonymous_T701T,Synonymous_T701T,Synonymous_T701T,Synonymous_T701T,Synonymous_T701T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,6:17:99:195,0,341:58:99:0.353 chr17 3845927 rs17846889 A G 2024.29 PASS BaseQRankSum=4.732;DP=162;Dels=0.00;FS=0.592;HRun=1;HaplotypeScore=4.6405;MQ=55;MQ0=0;MQRankSum=3.466;QD=12.50;ReadPosRankSum=1.714;SB=-1079.65;TI=NM_174954,NM_174958,NM_174957,NM_174955,NM_005173,NM_174953,NM_174956;GI=ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3;FC=Synonymous_T506T,Synonymous_T506T,Synonymous_T506T,Synonymous_T506T,Synonymous_T506T,Synonymous_T506T,Synonymous_T506T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,82:162:99:2054,0,1901:55:99:0.506 chr17 3846675 rs71366582 C T 755.49 PASS BaseQRankSum=-0.287;DP=82;Dels=0.00;FS=1.912;HRun=0;HaplotypeScore=8.9637;MQ=49;MQ0=0;MQRankSum=-0.118;QD=9.21;ReadPosRankSum=0.005;SB=-429.11;TI=NM_174954,NM_174958,NM_174957,NM_174955,NM_005173,NM_174953,NM_174956;GI=ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,34:82:99:785,0,1081:49:99:0.415 chr17 3846802 rs758641 A G 1351.88 PASS BaseQRankSum=3.375;DP=120;Dels=0.00;FS=1.467;HRun=0;HaplotypeScore=4.7531;MQ=51;MQ0=0;MQRankSum=0.924;QD=11.27;ReadPosRankSum=0.168;SB=-832.82;TI=NM_174954,NM_174958,NM_174957,NM_174955,NM_005173,NM_174953,NM_174956;GI=ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3;FC=Synonymous_Y434Y,Synonymous_Y434Y,Synonymous_Y434Y,Synonymous_Y434Y,Synonymous_Y434Y,Synonymous_Y434Y,Synonymous_Y434Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,59:120:99:1382,0,1375:51:99:0.492 chr17 3848013 rs1800911 A C 1369.51 PASS BaseQRankSum=1.051;DP=143;Dels=0.00;FS=3.981;HRun=0;HaplotypeScore=4.8848;MQ=53;MQ0=0;MQRankSum=2.288;QD=9.58;ReadPosRankSum=-3.480;SB=-932.44;TI=NM_174954,NM_174958,NM_174957,NM_174955,NM_005173,NM_174953,NM_174956;GI=ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3,ATP2A3;FC=Synonymous_A424A,Synonymous_A424A,Synonymous_A424A,Synonymous_A424A,Synonymous_A424A,Synonymous_A424A,Synonymous_A424A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,61:143:99:1400,0,1901:53:99:0.427 chr17 4536241 rs743646 T C 1578.23 PASS BaseQRankSum=0.608;DP=126;Dels=0.00;FS=0.662;HRun=1;HaplotypeScore=4.4704;MQ=52;MQ0=0;MQRankSum=0.730;QD=12.53;ReadPosRankSum=-0.730;SB=-1020.07;TI=NM_001140;GI=ALOX15;FC=Synonymous_T485T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,66:126:99:1608,0,1598:52:99:0.524 chr17 4638484 rs1876444 T C 4820.43 PASS BaseQRankSum=-1.386;DP=170;Dels=0.00;FS=4.208;HRun=1;HaplotypeScore=3.5489;MQ=53;MQ0=0;MQRankSum=0.143;QD=28.36;ReadPosRankSum=-0.754;SB=-2414.32;TI=NM_022059,NM_001100812;GI=CXCL16,CXCL16;FC=Synonymous_P226P,Synonymous_P226P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,169:170:99:4820,318,0:53:99:0.994 chr17 4638563 rs2277680 G A 4933.46 PASS BaseQRankSum=0.039;DP=178;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.6271;MQ=55;MQ0=0;MQRankSum=0.895;QD=27.72;ReadPosRankSum=0.681;SB=-3425.11;TI=NM_022059,NM_001100812;GI=CXCL16,CXCL16;FC=Missense_A200V,Missense_A200V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,177:178:99:4933,324,0:55:99:0.994 chr17 4638737 rs1050998 A G 2384.01 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.72;SB=-1341.16;TI=NM_022059,NM_001100812;GI=CXCL16,CXCL16;FC=Missense_I142T,Missense_I142T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2417,178,0:55:99:1.000 chr17 4641755 rs1050997 C T 4888.15 PASS DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2303;MQ=54;MQ0=0;QD=28.75;SB=-3031.99;TI=NM_022059,NM_001100812;GI=CXCL16,CXCL16;FC=Synonymous_G102G,Synonymous_G102G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:170:99:4888,352,0:54:99:1.000 chr17 4642069 rs2250333 A G 1195.14 PASS DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=32.30;SB=-579.95;TI=NM_022059,NM_001100812;GI=CXCL16,CXCL16;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,37:37:90.30:1228,90,0:58:90:1.000 chr17 4718776 rs1132448 G A 3278.52 PASS BaseQRankSum=1.703;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6033;MQ=54;MQ0=0;MQRankSum=0.693;QD=27.32;ReadPosRankSum=-1.559;SB=-2005.36;TI=NM_002663;GI=PLD2;FC=Synonymous_E393E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,119:120:99:3279,238,0:54:99:0.992 chr17 4720469 rs1052748 C T 4957.33 PASS DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0191;MQ=52;MQ0=0;QD=27.85;SB=-3263.00;TI=NM_002663;GI=PLD2;FC=Missense_T577I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,178:178:99:4957,358,0:52:99:1.000 chr17 4837171 . G A 69.17 SB BaseQRankSum=-1.513;DP=50;Dels=0.00;FS=8.310;HRun=0;HaplotypeScore=51.4366;MQ=37;MQ0=0;MQRankSum=-1.629;QD=1.38;ReadPosRankSum=-0.786;SB=-0.01;TI=NM_000173;GI=GP1BA;FC=Synonymous_P424P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,9:50:99:99,0,792:37:69:0.205 chr17 4837190 . G C 3.26 LowGQX;LowVariantFreq;SB BaseQRankSum=-0.248;DP=37;Dels=0.00;FS=6.107;HRun=5;HaplotypeScore=61.8001;MQ=35;MQ0=0;MQRankSum=-1.020;QD=0.09;ReadPosRankSum=0.193;SB=-0.01;TI=NM_000173;GI=GP1BA;FC=Missense_A431P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,4:37:30.48:30,0,524:35:3:0.121 chr17 4837210 rs2586529 A C,G 704.12 PASS BaseQRankSum=2.396;DP=42;Dels=0.00;FS=3.128;HaplotypeScore=45.1275;MQ=37;MQ0=0;MQRankSum=1.687;QD=16.76;ReadPosRankSum=-0.169;SB=-395.96;TI=NM_000173;GI=GP1BA;FC=Synonymous_P437P/Synonymous_P437P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:7,6,29:42:38.95:764,662,700,58,0,39:37:39:0.833 chr17 4837220 rs12947958 T C 18.10 SB BaseQRankSum=-2.483;DP=47;Dels=0.02;FS=2.648;HRun=2;HaplotypeScore=54.7038;MQ=41;MQ0=0;MQRankSum=-2.084;QD=0.39;ReadPosRankSum=-0.582;SB=-0.01;TI=NM_000173;GI=GP1BA;FC=Missense_S441P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,9:46:48.02:48,0,628:41:18:0.214 chr17 4856376 rs238238 A G 3439.29 PASS DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3863;MQ=56;MQ0=0;QD=30.98;SB=-2141.90;TI=NM_053013,NM_001976,NM_001193503;GI=ENO3,ENO3,ENO3;FC=Missense_N71S,Missense_N71S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,111:111:99:3439,253,0:56:99:1.000 chr17 4856580 rs238239 T C 2747.12 PASS DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6818;MQ=54;MQ0=0;QD=28.92;SB=-1238.33;TI=NM_053013,NM_001976,NM_001193503;GI=ENO3,ENO3,ENO3;FC=Missense_V85A,Missense_V85A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:95:99:2780,202,0:54:99:1.000 chr17 4936972 rs346821 G A 466.09 LowDP DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=35.85;SB=-187.45;TI=NM_017986,NM_001104577;GI=GPR172B,GPR172B;FC=Missense_A271V,Missense_A271V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,13:13:39.12:499,39,0:54:39:1.000 chr17 4937575 rs346822 T C 323.86 LowGQ;LowDP DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=26.99;SB=-191.97;TI=NM_017986,NM_001104577;GI=GPR172B,GPR172B;FC=Missense_Q70R,Missense_Q70R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,11:12:27.08:357,27,0:58:27:1.000 chr17 5425077 rs11651270 T C 1646.84 PASS BaseQRankSum=1.247;DP=99;Dels=0.00;FS=0.804;HRun=0;HaplotypeScore=6.3670;MQ=54;MQ0=0;MQRankSum=0.458;QD=16.63;ReadPosRankSum=-0.536;SB=-693.34;TI=NM_001033053,NM_014922,NM_033006,NM_033007,NM_033004;GI=NLRP1,NLRP1,NLRP1,NLRP1,NLRP1;FC=Missense_M1188V,Missense_M1184V,Missense_M1154V,Missense_M1154V,Missense_M1184V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,58:99:99:1677,0,1049:54:99:0.586 chr17 5436263 rs2301582 C T 3499.28 PASS BaseQRankSum=2.204;DP=254;Dels=0.00;FS=1.562;HRun=0;HaplotypeScore=19.5868;MQ=54;MQ0=0;MQRankSum=-0.095;QD=13.78;ReadPosRankSum=-1.771;SB=-1811.33;TI=NM_001033053,NM_014922,NM_033006,NM_033007,NM_033004;GI=NLRP1,NLRP1,NLRP1,NLRP1,NLRP1;FC=Missense_V1063M,Missense_V1059M,Missense_V1029M,Missense_V1029M,Missense_V1059M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,140:254:99:3499,0,2604:54:99:0.551 chr17 5485367 rs12150220 A T 579.54 PASS BaseQRankSum=-0.179;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7041;MQ=57;MQ0=0;MQRankSum=1.237;QD=10.54;ReadPosRankSum=3.165;SB=-242.28;TI=NM_001033053,NM_014922,NM_033006,NM_033007,NM_033004;GI=NLRP1,NLRP1,NLRP1,NLRP1,NLRP1;FC=Missense_L155H,Missense_L155H,Missense_L155H,Missense_L155H,Missense_L155H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,23:55:99:610,0,817:57:99:0.418 chr17 6330068 rs2292546 T C 1530.03 PASS BaseQRankSum=-0.035;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8933;MQ=55;MQ0=0;MQRankSum=0.164;QD=12.97;ReadPosRankSum=0.439;SB=-758.20;TI=NM_001033055,NM_014336,NM_001033054;GI=AIPL1,AIPL1,AIPL1;FC=Synonymous_P157P,Synonymous_P217P,Synonymous_P154P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,58:118:99:1560,0,1598:55:99:0.492 chr17 6331803 rs8075035 T C 396.98 PASS BaseQRankSum=-1.945;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=59;MQ0=0;MQRankSum=1.467;QD=18.04;ReadPosRankSum=-0.990;SB=-70.94;TI=NM_001033055,NM_014336,NM_001033054;GI=AIPL1,AIPL1,AIPL1;FC=Synonymous_L40L,Synonymous_L100L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,14:22:99:427,0,231:59:99:0.636 chr17 6331836 rs12453262 T G 73.89 SB;LowDP BaseQRankSum=0.406;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=60;MQ0=0;MQRankSum=0.406;QD=10.56;ReadPosRankSum=0.406;SB=-0.01;TI=NM_001033055,NM_014336,NM_001033054;GI=AIPL1,AIPL1,AIPL1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,3:7:99:104,0,104:60:74:0.500 chr17 6337247 rs12449580 C G 356.31 PASS BaseQRankSum=0.248;DP=35;Dels=0.00;FS=3.528;HRun=1;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-0.461;QD=10.18;ReadPosRankSum=-1.276;SB=-56.58;TI=NM_001033055,NM_014336,NM_001033054;GI=AIPL1,AIPL1,AIPL1;FC=Silent,Missense_D90H,Missense_D90H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,13:35:99:386,0,585:56:99:0.382 chr17 6364753 rs11654099 A G 5109.99 PASS DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.6188;MQ=55;MQ0=0;QD=28.71;SB=-2847.55;TI=NM_001165966,NM_031220;GI=PITPNM3,PITPNM3;FC=Synonymous_D774D,Synonymous_D810D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,178:178:99:5110,370,0:55:99:1.000 chr17 6373737 rs11654175 C T 312.08 PASS BaseQRankSum=-0.202;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59;MQ0=0;MQRankSum=0.722;QD=13.00;ReadPosRankSum=-1.184;SB=-68.62;TI=NM_001165966,NM_031220;GI=PITPNM3,PITPNM3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,12:24:99:342,0,366:59:99:0.500 chr17 6374593 . C T 603.21 PASS BaseQRankSum=2.226;DP=73;Dels=0.00;FS=2.007;HRun=0;HaplotypeScore=3.4667;MQ=53;MQ0=0;MQRankSum=0.600;QD=8.26;ReadPosRankSum=-0.858;SB=-481.15;TI=NM_001165966,NM_031220;GI=PITPNM3,PITPNM3;FC=Synonymous_S468S,Synonymous_S504S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,30:73:99:633,0,1027:53:99:0.411 chr17 6381939 rs938288 G A 1595.04 PASS BaseQRankSum=1.634;DP=137;Dels=0.00;FS=2.155;HRun=0;HaplotypeScore=2.7597;MQ=52;MQ0=0;MQRankSum=0.601;QD=11.64;ReadPosRankSum=-0.924;SB=-985.30;TI=NM_001165966,NM_031220;GI=PITPNM3,PITPNM3;FC=Synonymous_T199T,Synonymous_T235T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,67:137:99:1625,0,1664:52:99:0.489 chr17 6406883 rs3809835 C T 1721.24 PASS BaseQRankSum=1.725;DP=130;Dels=0.00;FS=3.273;HRun=0;HaplotypeScore=3.8577;MQ=51;MQ0=0;MQRankSum=1.178;QD=13.24;ReadPosRankSum=1.197;SB=-1085.83;TI=NM_001165966,NM_031220;GI=PITPNM3,PITPNM3;FC=Missense_A44T,Missense_A80T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,75:130:99:1751,0,1220:51:99:0.577 chr17 6441376 rs28493751 G A 1260.42 PASS BaseQRankSum=0.135;DP=94;Dels=0.00;FS=2.773;HRun=0;HaplotypeScore=6.6436;MQ=54;MQ0=0;MQRankSum=-0.073;QD=13.41;ReadPosRankSum=-1.160;SB=-629.73;TI=NM_001165966,NM_031220;GI=PITPNM3,PITPNM3;FC=Missense_P17S,Missense_P17S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,50:94:99:1290,0,1072:54:99:0.538 chr17 6899559 rs312467 C G 335.67 LowGQ;LowDP DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9998;MQ=60;MQ0=0;QD=33.57;SB=-199.50;TI=NM_000697;GI=ALOX12;FC=Synonymous_P41P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,10:10:27.09:369,27,0:60:27:1.000 chr17 6902743 rs1042356 G A 2917.27 PASS BaseQRankSum=0.191;DP=206;Dels=0.00;FS=5.137;HRun=0;HaplotypeScore=12.0121;MQ=53;MQ0=0;MQRankSum=1.258;QD=14.16;ReadPosRankSum=1.133;SB=-1944.30;TI=NM_000697;GI=ALOX12;FC=Synonymous_S255S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,124:206:99:2947,0,1912:53:99:0.605 chr17 6902760 rs1126667 A G 2875.48 PASS BaseQRankSum=-0.326;DP=197;Dels=0.00;FS=4.448;HRun=2;HaplotypeScore=9.1706;MQ=53;MQ0=0;MQRankSum=2.101;QD=14.60;ReadPosRankSum=-0.061;SB=-1645.85;TI=NM_000697;GI=ALOX12;FC=Missense_Q261R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,121:197:99:2905,0,1810:53:99:0.621 chr17 6904934 rs434473 A G 921.54 PASS BaseQRankSum=-1.533;DP=66;Dels=0.00;FS=3.285;HRun=0;HaplotypeScore=2.7605;MQ=56;MQ0=0;MQRankSum=-0.404;QD=13.96;ReadPosRankSum=-0.597;SB=-174.48;TI=NM_000697;GI=ALOX12;FC=Missense_N322S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,32:66:99:952,0,1079:56:99:0.485 chr17 6905061 rs1042357 T G 2216.14 PASS BaseQRankSum=2.784;DP=182;Dels=0.00;FS=4.311;HRun=0;HaplotypeScore=7.2036;MQ=55;MQ0=0;MQRankSum=2.969;QD=12.18;ReadPosRankSum=-1.129;SB=-1251.88;TI=NM_000697;GI=ALOX12;FC=Synonymous_T364T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,94:182:99:2246,0,2157:55:99:0.519 chr17 7127718 rs17671352 T C 3743.25 PASS DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8752;MQ=54;MQ0=0;QD=30.19;SB=-1948.49;TI=NM_000018,NM_001033859;GI=ACADVL,ACADVL;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:124:99:3743,277,0:54:99:1.000 chr17 7127951 . T C 39.84 LowVariantFreq;SB BaseQRankSum=-4.589;DP=73;Dels=0.00;FS=38.595;HRun=2;HaplotypeScore=46.3021;MQ=51;MQ0=0;MQRankSum=-3.365;QD=0.55;ReadPosRankSum=-0.747;SB=-0.01;TI=NM_000018,NM_001033859;GI=ACADVL,ACADVL;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,14:73:69.83:70,0,1699:51:40:0.194 chr17 7187123 rs5435 T C 1268.29 PASS BaseQRankSum=-1.220;DP=122;Dels=0.00;FS=1.490;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=-1.168;QD=10.40;ReadPosRankSum=-0.773;SB=-661.45;TI=NM_001042;GI=SLC2A4;FC=Synonymous_N130N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,51:122:99:1298,0,1914:54:99:0.418 chr17 7193055 . GA G 745.39 PASS BaseQRankSum=4.683;DP=44;FS=6.080;HRun=2;HaplotypeScore=112.1739;MQ=55;MQ0=0;MQRankSum=-0.669;QD=16.94;ReadPosRankSum=-1.068;SB=-346.14;TI=NM_015982;GI=YBX2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,22:44:99:784,0,801:55:99:0.500 chr17 7197633 rs8069533 A G 551.10 LowDP DP=17;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=32.42;SB=-81.30;TI=NM_015982;GI=YBX2;FC=Missense_S63P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,17:17:45.14:584,45,0:60:45:1.000 chr17 7197794 rs222859 C A 1981.62 PASS BaseQRankSum=2.034;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3245;MQ=52;MQ0=2;MQRankSum=-0.144;QD=25.08;ReadPosRankSum=0.913;SB=-1166.97;TI=NM_015982;GI=YBX2;FC=Missense_G9V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,77:79:99:2015,126,0:52:99:0.975 chr17 7318061 rs78355381 T C 5276.93 PASS BaseQRankSum=1.694;DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3369;MQ=55;MQ0=0;MQRankSum=-1.638;QD=28.68;ReadPosRankSum=1.694;SB=-3240.85;TI=NM_020795;GI=NLGN2;FC=Synonymous_S246S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,183:184:99:5277,382,0:55:99:0.995 chr17 7318396 rs2241233 C T 5543.81 PASS DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9645;MQ=55;MQ0=0;QD=28.58;SB=-2807.66;TI=NM_020795;GI=NLGN2;FC=Synonymous_S322S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,193:194:99:5544,400,0:55:99:1.000 chr17 7490810 rs10852891 G A 529.37 PASS BaseQRankSum=-0.714;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2586;MQ=56;MQ0=0;MQRankSum=-1.291;QD=13.93;ReadPosRankSum=0.623;SB=-51.03;TI=NM_004870,NR_024603;GI=MPDU1,MPDU1;FC=Missense_A229T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,19:38:99:559,0,545:56:99:0.514 chr17 7491177 rs4227 G T 3887.60 PASS DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2312;MQ=56;MQ0=0;QD=33.81;SB=-1023.67;TI=NM_004870,NR_024603;GI=MPDU1,MPDU1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3888,289,0:56:99:1.000 chr17 7536527 rs6259 G A 2232.38 PASS BaseQRankSum=4.799;DP=240;Dels=0.00;FS=1.613;HRun=2;HaplotypeScore=14.4904;MQ=53;MQ0=0;MQRankSum=3.041;QD=9.30;ReadPosRankSum=1.409;SB=-1388.36;TI=NR_027463,NR_027462,NM_001040,NM_001146279,NM_001146281,NM_001146280;GI=SHBG,SHBG,SHBG,SHBG,SHBG,SHBG;FC=Silent,Silent,Missense_D356N,Missense_D338N,Missense_D241N,Synonymous_K286K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,99:240:99:2262,0,3480:53:99:0.413 chr17 7579472 rs1042522 G C 1134.55 PASS BaseQRankSum=-0.107;DP=101;Dels=0.00;FS=3.735;HRun=0;HaplotypeScore=7.8488;MQ=51;MQ0=0;MQRankSum=-2.059;QD=11.23;ReadPosRankSum=-0.624;SB=-688.29;TI=NM_001126113,NM_001126112,NM_001126114,NM_000546;GI=TP53,TP53,TP53,TP53;FC=Missense_P72R,Missense_P72R,Missense_P72R,Missense_P72R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,52:101:99:1165,0,1213:51:99:0.520 chr17 7749954 rs60738318 C G 1842.68 PASS BaseQRankSum=1.348;DP=165;Dels=0.00;FS=0.617;HRun=0;HaplotypeScore=4.5047;MQ=52;MQ0=0;MQRankSum=0.817;QD=11.17;ReadPosRankSum=-0.241;SB=-813.77;TI=NM_001080424;GI=KDM6B;FC=Missense_P203A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,77:165:99:1873,0,2079:52:99:0.470 chr17 7750232 rs11078709 T C 873.57 PASS BaseQRankSum=-0.364;DP=81;Dels=0.00;FS=3.226;HRun=1;HaplotypeScore=12.7806;MQ=48;MQ0=0;MQRankSum=-1.774;QD=10.78;ReadPosRankSum=-0.573;SB=-533.82;TI=NM_001080424;GI=KDM6B;FC=Synonymous_A269A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,38:81:99:904,0,1043:48:99:0.469 chr17 7750936 rs73233606 A G 768.09 PASS BaseQRankSum=0.394;DP=82;Dels=0.00;FS=5.932;HRun=1;HaplotypeScore=5.4199;MQ=51;MQ0=0;MQRankSum=0.642;QD=9.37;ReadPosRankSum=0.452;SB=-407.99;TI=NM_001080424;GI=KDM6B;FC=Missense_S444G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,32:82:99:798,0,1375:51:99:0.390 chr17 7751154 . A C 59.80 LowVariantFreq;SB BaseQRankSum=-3.541;DP=90;Dels=0.00;FS=28.787;HRun=4;HaplotypeScore=79.7405;MQ=36;MQ0=0;MQRankSum=-3.351;QD=0.66;ReadPosRankSum=-1.451;SB=-0.01;TI=NM_001080424;GI=KDM6B;FC=Synonymous_P516P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,16:90:89.79:90,0,1624:36:60:0.178 chr17 7751162 . T C 174.42 SB BaseQRankSum=-4.468;DP=97;Dels=0.00;FS=52.760;HRun=5;HaplotypeScore=83.0999;MQ=37;MQ0=0;MQRankSum=-3.115;QD=1.80;ReadPosRankSum=0.318;SB=-0.01;TI=NM_001080424;GI=KDM6B;FC=Missense_L519P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,27:97:99:204,0,1544:37:99:0.284 chr17 7751168 . A C 29.04 LowVariantFreq;SB BaseQRankSum=-3.319;DP=94;Dels=0.00;FS=31.014;HRun=5;HaplotypeScore=73.4139;MQ=38;MQ0=0;MQRankSum=-4.083;QD=0.31;ReadPosRankSum=1.885;SB=-0.01;TI=NM_001080424;GI=KDM6B;FC=Missense_H521P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,14:94:59.03:59,0,1740:38:29:0.149 chr17 7751778 rs3744249 G A 2070.26 PASS BaseQRankSum=-0.986;DP=171;Dels=0.00;FS=7.920;HRun=0;HaplotypeScore=37.5854;MQ=52;MQ0=0;MQRankSum=2.040;QD=12.11;ReadPosRankSum=-3.463;SB=-953.06;TI=NM_001080424;GI=KDM6B;FC=Synonymous_P724P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,88:171:99:2100,0,2048:52:99:0.524 chr17 7906519 rs61749665 G T 953.88 PASS BaseQRankSum=-2.165;DP=70;Dels=0.00;FS=3.241;HRun=0;HaplotypeScore=2.6576;MQ=56;MQ0=0;MQRankSum=0.859;QD=13.63;ReadPosRankSum=-0.400;SB=-549.42;TI=NM_000180;GI=GUCY2D;FC=Missense_A52S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,37:70:99:984,0,823:56:99:0.529 chr17 7983969 rs2304908 G C 621.38 PASS BaseQRankSum=-0.155;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6818;MQ=54;MQ0=0;MQRankSum=-0.155;QD=12.43;ReadPosRankSum=-3.735;SB=-307.91;TI=NM_001139;GI=ALOX12B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,26:50:99:651,0,535:54:99:0.542 chr17 7984479 rs72842957 G A 1752.90 PASS BaseQRankSum=-0.946;DP=142;Dels=0.00;FS=7.602;HRun=0;HaplotypeScore=4.4430;MQ=53;MQ0=0;MQRankSum=1.920;QD=12.34;ReadPosRankSum=1.392;SB=-922.66;TI=NM_001139;GI=ALOX12B;FC=Missense_P127S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,77:142:99:1783,0,1591:53:99:0.542 chr17 8021608 rs3027229 G C 408.00 PASS BaseQRankSum=3.680;DP=43;Dels=0.00;FS=1.426;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=0.603;QD=9.49;ReadPosRankSum=-0.185;SB=-171.87;TI=NM_021628,NM_001165960;GI=ALOXE3,ALOXE3;FC=Silent,Missense_P33A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,18:43:99:438,0,753:58:99:0.419 chr17 8025180 rs56066045 T C 809.21 PASS BaseQRankSum=1.365;DP=50;Dels=0.00;FS=4.307;HRun=0;HaplotypeScore=1.6643;MQ=58;MQ0=0;MQRankSum=0.687;QD=16.18;ReadPosRankSum=1.590;SB=-339.21;TI=NM_032580,NM_001165967;GI=HES7,HES7;FC=Synonymous_K129K,Synonymous_K134K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,30:50:99:839,0,342:58:99:0.612 chr17 8025712 rs1348325 A G 745.87 PASS BaseQRankSum=1.043;DP=64;Dels=0.00;FS=0.990;HRun=0;HaplotypeScore=5.2477;MQ=49;MQ0=0;MQRankSum=1.984;QD=11.65;ReadPosRankSum=0.020;SB=-484.01;TI=NM_032580,NM_001165967;GI=HES7,HES7;FC=Synonymous_L59L,Synonymous_L59L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,30:64:99:776,0,752:49:99:0.469 chr17 8135061 rs3027238 T C 4300.55 PASS DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=31.39;SB=-1983.08;TI=NM_025099;GI=C17orf68;FC=Missense_I820V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:4301,313,0:57:99:1.000 chr17 8141707 rs6503093 T C 3540.29 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=56;MQ0=0;QD=31.33;SB=-1726.43;TI=NM_025099;GI=C17orf68;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3540,259,0:56:99:1.000 chr17 8167600 rs11078738 T C 3047.90 PASS BaseQRankSum=2.598;DP=246;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=19.3797;MQ=54;MQ0=0;MQRankSum=1.057;QD=12.39;ReadPosRankSum=1.339;SB=-2053.48;TI=NM_012393;GI=PFAS;FC=Missense_L621P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,123:246:99:3078,0,2961:54:99:0.500 chr17 8168224 rs9902252 T C 1924.92 PASS BaseQRankSum=2.222;DP=154;Dels=0.00;FS=0.622;HRun=1;HaplotypeScore=9.5418;MQ=51;MQ0=0;MQRankSum=0.228;QD=12.50;ReadPosRankSum=1.124;SB=-921.91;TI=NM_012393;GI=PFAS;FC=Synonymous_S687S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,77:154:99:1955,0,2008:51:99:0.500 chr17 8791958 . G T 3574.54 PASS BaseQRankSum=1.102;DP=300;Dels=0.00;FS=1.386;HRun=0;HaplotypeScore=10.0024;MQ=54;MQ0=0;MQRankSum=2.433;QD=11.92;ReadPosRankSum=0.760;SB=-2082.38;TI=NM_014308,NM_001142633;GI=PIK3R5,PIK3R5;FC=Synonymous_G382G,Synonymous_G382G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:157,143:300:99:3575,0,3765:54:99:0.477 chr17 8792029 rs381309 A G 2616.96 PASS BaseQRankSum=-0.463;DP=195;Dels=0.00;FS=0.534;HRun=2;HaplotypeScore=9.8584;MQ=53;MQ0=0;MQRankSum=0.793;QD=13.42;ReadPosRankSum=0.210;SB=-1470.54;TI=NM_014308,NM_001142633;GI=PIK3R5,PIK3R5;FC=Synonymous_L359L,Synonymous_L359L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,95:195:99:2647,0,2555:53:99:0.490 chr17 8792514 rs394811 G A 1169.55 PASS BaseQRankSum=2.223;DP=130;Dels=0.00;FS=0.661;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=0.130;QD=9.00;ReadPosRankSum=-0.839;SB=-773.38;TI=NM_014308,NM_001142633;GI=PIK3R5,PIK3R5;FC=Synonymous_H279H,Synonymous_H279H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,54:130:99:1200,0,1821:52:99:0.415 chr17 10216063 . G A 1591.39 PASS BaseQRankSum=1.818;DP=133;Dels=0.00;FS=0.651;HRun=0;HaplotypeScore=15.1641;MQ=57;MQ0=0;MQRankSum=2.219;QD=11.97;ReadPosRankSum=-0.764;SB=-1011.42;TI=NM_003802;GI=MYH13;FC=Missense_A1398V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,63:133:99:1621,0,1675:57:99:0.474 chr17 10219113 rs17690195 C T 523.95 PASS BaseQRankSum=0.880;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8936;MQ=56;MQ0=0;MQRankSum=2.641;QD=7.59;ReadPosRankSum=-0.359;SB=-269.06;TI=NM_003802;GI=MYH13;FC=Missense_R1294Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,21:69:99:554,0,1273:56:99:0.304 chr17 10223714 rs2074877 T C 3623.03 PASS DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5630;MQ=56;MQ0=0;QD=30.45;SB=-2170.02;TI=NM_003802;GI=MYH13;FC=Missense_M1071V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,119:119:99:3623,265,0:56:99:1.000 chr17 10236465 rs2240579 G A 1509.01 PASS BaseQRankSum=-1.705;DP=135;Dels=0.00;FS=3.069;HRun=0;HaplotypeScore=9.4315;MQ=50;MQ0=0;MQRankSum=-0.161;QD=11.18;ReadPosRankSum=-0.772;SB=-915.62;TI=NM_003802;GI=MYH13;FC=Synonymous_N700N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,67:135:99:1539,0,1556:50:99:0.496 chr17 10243717 rs3760423 G A 3188.17 PASS DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4427;MQ=53;MQ0=0;QD=31.57;SB=-1465.83;TI=NM_003802;GI=MYH13;FC=Unknown_632;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:3221,238,0:53:99:1.000 chr17 10247199 rs12938754 G A 4443.09 PASS DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6770;MQ=56;MQ0=1;QD=30.23;SB=-2050.03;TI=NM_003802;GI=MYH13;FC=Synonymous_N604N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,147:147:99:4443,325,0:56:99:1.000 chr17 10297658 rs8069834 A G 1190.51 PASS BaseQRankSum=2.409;DP=97;Dels=0.00;FS=1.647;HRun=0;HaplotypeScore=3.7875;MQ=53;MQ0=0;MQRankSum=0.220;QD=12.27;ReadPosRankSum=2.446;SB=-764.35;TI=NM_002472;GI=MYH8;FC=Missense_W1692R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,51:97:99:1220,0,1188:53:99:0.526 chr17 10304261 rs3744552 G A 1176.47 PASS BaseQRankSum=0.984;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5759;MQ=57;MQ0=0;MQRankSum=-0.937;QD=16.57;ReadPosRankSum=0.308;SB=-615.48;TI=NM_002472;GI=MYH8;FC=Synonymous_I1090I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,41:71:99:1206,0,839:57:99:0.577 chr17 10318636 rs8068729 A G 4363.92 PASS DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=31.62;SB=-2239.84;TI=NM_002472;GI=MYH8;FC=Synonymous_T238T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:138:99:4364,322,0:55:99:1.000 chr17 10427924 rs1042236;rs61730799 G A 890.04 PASS BaseQRankSum=-0.040;DP=89;Dels=0.00;FS=7.446;HRun=0;HaplotypeScore=0.8667;MQ=52;MQ0=4;MQRankSum=-2.621;QD=10.00;ReadPosRankSum=0.906;SB=-380.48;TI=NM_001100112,NM_017534;GI=MYH2,MYH2;FC=Synonymous_A1678A,Synonymous_A1678A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,42:89:99:920,0,1153:52:99:0.472 chr17 10446182 rs719277 C T 1753.91 PASS BaseQRankSum=1.165;DP=152;Dels=0.00;FS=3.072;HRun=0;HaplotypeScore=1.9987;MQ=55;MQ0=0;MQRankSum=-0.048;QD=11.54;ReadPosRankSum=1.752;SB=-651.93;TI=NM_001100112,NM_017534;GI=MYH2,MYH2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,67:152:99:1784,0,2298:55:99:0.441 chr17 10448769 rs11078850 A T 478.02 PASS BaseQRankSum=-0.277;DP=42;Dels=0.00;FS=1.204;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.107;QD=11.38;ReadPosRankSum=0.126;SB=-332.82;TI=NM_001100112,NM_017534;GI=MYH2,MYH2;FC=Synonymous_P133P,Synonymous_P133P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,21:42:99:508,0,538:55:99:0.500 chr17 10450816 rs12600539 T C 1244.21 PASS BaseQRankSum=-1.089;DP=97;Dels=0.00;FS=5.253;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=0.416;QD=12.83;ReadPosRankSum=1.646;SB=-538.87;TI=NM_001100112,NM_017534;GI=MYH2,MYH2;FC=Synonymous_E108E,Synonymous_E108E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,52:97:99:1274,0,1071:51:99:0.536 chr17 10533595 rs3216886 C CT 3112.50 PASS BaseQRankSum=1.528;DP=148;FS=0.615;HRun=1;HaplotypeScore=89.2190;MQ=58;MQ0=0;MQRankSum=1.237;QD=21.03;ReadPosRankSum=1.528;SB=-1416.81;TI=NM_002470;GI=MYH3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,84:148:99:3152,0,2198:58:99:0.571 chr17 10536018 rs2285479 G A 715.00 PASS BaseQRankSum=0.133;DP=49;Dels=0.00;FS=1.094;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-0.298;QD=14.59;ReadPosRankSum=-1.241;SB=-479.32;TI=NM_002470;GI=MYH3;FC=Synonymous_I1577I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,30:49:99:745,0,547:57:99:0.612 chr17 10541515 rs2285477 C T 1875.72 PASS BaseQRankSum=3.423;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3367;MQ=54;MQ0=0;MQRankSum=-0.161;QD=14.77;ReadPosRankSum=1.114;SB=-1323.55;TI=NM_002470;GI=MYH3;FC=Missense_A1192T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,78:127:99:1906,0,1186:54:99:0.624 chr17 10541741 rs201626 A G 354.86 SB;LowDP BaseQRankSum=0.326;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5956;MQ=60;MQ0=0;MQRankSum=-0.065;QD=23.66;ReadPosRankSum=-0.326;SB=-0.01;TI=NM_002470;GI=MYH3;FC=Synonymous_I1116I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,11:15:99:385,0,108:60:99:0.733 chr17 10542471 rs2285475 T G 1798.08 PASS BaseQRankSum=0.871;DP=114;Dels=0.00;FS=5.873;HRun=0;HaplotypeScore=4.4704;MQ=56;MQ0=0;MQRankSum=-1.036;QD=15.77;ReadPosRankSum=0.226;SB=-859.51;TI=NM_002470;GI=MYH3;FC=Synonymous_R1046R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,64:114:99:1828,0,1357:56:99:0.561 chr17 10542765 rs2285474 A G 453.94 PASS BaseQRankSum=-0.629;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-0.989;QD=8.90;ReadPosRankSum=-0.569;SB=-168.00;TI=NM_002470;GI=MYH3;FC=Synonymous_S984S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,17:51:99:484,0,1029:58:99:0.333 chr17 10542886 rs2285472 T C 760.72 PASS BaseQRankSum=0.837;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=56;MQ0=0;MQRankSum=0.823;QD=12.07;ReadPosRankSum=0.629;SB=-328.76;TI=NM_002470;GI=MYH3;FC=Synonymous_T972T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,28:63:99:791,0,925:56:99:0.444 chr17 10542919 . G T 1067.40 PASS BaseQRankSum=1.592;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8931;MQ=54;MQ0=0;MQRankSum=1.001;QD=12.56;ReadPosRankSum=0.763;SB=-688.71;TI=NM_002470;GI=MYH3;FC=Synonymous_T961T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,46:85:99:1097,0,886:54:99:0.541 chr17 10543463 rs2285469 T C 1341.62 PASS BaseQRankSum=-0.061;DP=116;Dels=0.00;FS=4.545;HRun=1;HaplotypeScore=6.2312;MQ=53;MQ0=0;MQRankSum=1.225;QD=11.57;ReadPosRankSum=-0.937;SB=-795.30;TI=NM_002470;GI=MYH3;FC=Synonymous_A844A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,53:116:99:1372,0,1708:53:99:0.457 chr17 10544416 rs876657 G T 1613.40 PASS BaseQRankSum=3.405;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0556;MQ=52;MQ0=0;MQRankSum=-0.322;QD=10.98;ReadPosRankSum=-1.311;SB=-925.28;TI=NM_002470;GI=MYH3;FC=Synonymous_G717G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,64:147:99:1643,0,1908:52:99:0.435 chr17 10544696 rs3216884 GA G 391.75 R8 BaseQRankSum=-1.817;DP=72;FS=2.323;HRun=10;HaplotypeScore=84.5007;MQ=54;MQ0=0;MQRankSum=1.410;QD=5.44;ReadPosRankSum=-0.386;SB=-204.44;TI=NM_002470;GI=MYH3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,20:72:99:431,0,1058:54:99:0.299 chr17 11523082 rs9892256 A G 4648.11 PASS DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4702;MQ=55;MQ0=0;QD=31.20;SB=-1743.94;TI=NM_001372;GI=DNAH9;FC=Missense_Q445R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,149:149:99:4648,343,0:55:99:1.000 chr17 11532835 rs9895535 A G 3071.48 PASS BaseQRankSum=-0.977;DP=217;Dels=0.00;FS=4.077;HRun=1;HaplotypeScore=4.6794;MQ=53;MQ0=0;MQRankSum=1.602;QD=14.15;ReadPosRankSum=-0.282;SB=-1580.92;TI=NM_001372;GI=DNAH9;FC=Synonymous_E484E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,120:217:99:3101,0,2474:53:99:0.553 chr17 11583089 rs8071438 T C 1496.34 PASS BaseQRankSum=1.178;DP=126;Dels=0.00;FS=0.662;HRun=0;HaplotypeScore=3.8919;MQ=54;MQ0=0;MQRankSum=1.886;QD=11.88;ReadPosRankSum=-1.300;SB=-1015.13;TI=NM_001372;GI=DNAH9;FC=Synonymous_D1123D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,64:126:99:1526,0,1523:54:99:0.508 chr17 11648332 rs3744578 C T 1509.55 PASS BaseQRankSum=-0.058;DP=123;Dels=0.00;FS=3.255;HRun=2;HaplotypeScore=3.6538;MQ=54;MQ0=0;MQRankSum=2.006;QD=12.27;ReadPosRankSum=-0.817;SB=-916.36;TI=NM_001372;GI=DNAH9;FC=Synonymous_N2110N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,62:123:99:1540,0,1514:54:99:0.504 chr17 11725337 . C T 2051.19 PASS BaseQRankSum=-1.274;DP=129;Dels=0.00;FS=2.312;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=-0.389;QD=15.90;ReadPosRankSum=-1.632;SB=-1101.01;TI=NM_001372;GI=DNAH9;FC=Synonymous_N2936N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,79:129:99:2081,0,1119:55:99:0.612 chr17 11757556 rs12449553 C G 1629.02 PASS BaseQRankSum=1.048;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6611;MQ=58;MQ0=0;MQRankSum=1.072;QD=14.42;ReadPosRankSum=0.038;SB=-932.09;TI=NM_001372;GI=DNAH9;FC=Synonymous_P3248P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,65:113:99:1659,0,1267:58:99:0.575 chr17 11786951 rs8070256 T C 5102.07 PASS BaseQRankSum=1.507;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7837;MQ=57;MQ0=0;MQRankSum=-0.994;QD=30.01;ReadPosRankSum=1.322;SB=-2502.44;TI=NM_001372,NM_004662;GI=DNAH9,DNAH9;FC=Synonymous_L3619L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,168:170:99:5102,350,0:57:99:0.994 chr17 11833287 rs2286303 A G 1680.69 PASS BaseQRankSum=0.138;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3227;MQ=56;MQ0=0;MQRankSum=0.821;QD=11.43;ReadPosRankSum=-2.152;SB=-1191.48;TI=NM_001372,NM_004662;GI=DNAH9,DNAH9;FC=Synonymous_P3994P,Synonymous_P306P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,78:147:99:1711,0,1871:56:99:0.531 chr17 11833365 rs1859887 G A 1812.44 PASS BaseQRankSum=1.882;DP=164;Dels=0.00;FS=4.620;HRun=0;HaplotypeScore=2.5929;MQ=52;MQ0=0;MQRankSum=1.632;QD=11.05;ReadPosRankSum=-1.497;SB=-1148.29;TI=NM_001372,NM_004662;GI=DNAH9,DNAH9;FC=Synonymous_T4020T,Synonymous_T332T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,78:164:99:1842,0,2154:52:99:0.476 chr17 11835331 rs17612861 G A 1115.80 PASS BaseQRankSum=0.526;DP=88;Dels=0.00;FS=0.855;HRun=1;HaplotypeScore=4.5761;MQ=58;MQ0=0;MQRankSum=-1.010;QD=12.68;ReadPosRankSum=-1.736;SB=-545.18;TI=NM_001372,NM_004662;GI=DNAH9,DNAH9;FC=Missense_D4036N,Missense_D348N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,45:88:99:1146,0,1107:58:99:0.511 chr17 12647490 rs12709295 T C 1682.89 PASS BaseQRankSum=1.726;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.8938;MQ=55;MQ0=0;MQRankSum=3.342;QD=15.73;ReadPosRankSum=0.678;SB=-683.37;TI=NM_153604,NM_001146312,NM_001146313;GI=MYOCD,MYOCD,MYOCD;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,62:107:99:1713,0,1110:55:99:0.579 chr17 12899963 rs11545302 T C 6649.04 PASS DP=247;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2991;MQ=52;MQ0=0;QD=26.92;SB=-4323.66;TI=NM_173717,NM_018127,NM_001165962;GI=ELAC2,ELAC2,ELAC2;FC=Synonymous_T519T,Synonymous_T520T,Synonymous_T480T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,247:247:99:6649,473,0:52:99:1.000 chr17 12903599 rs76549090 A G 2703.92 PASS DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5489;MQ=53;MQ0=0;QD=25.04;SB=-1872.09;TI=NM_173717,NM_018127,NM_001165962;GI=ELAC2,ELAC2,ELAC2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:108:99:2737,193,0:53:99:1.000 chr17 12915009 rs4792311 G A 2901.95 PASS DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=25.23;SB=-2047.80;TI=NM_173717,NM_018127,NM_001165962;GI=ELAC2,ELAC2,ELAC2;FC=Missense_S217L,Missense_S217L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:115:99:2935,208,0:52:99:1.000 chr17 12920260 rs58809197 A G 3505.76 PASS DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=29.21;SB=-1501.02;TI=NM_173717,NM_018127,NM_001165962;GI=ELAC2,ELAC2,ELAC2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:120:99:3506,256,0:53:99:1.000 chr17 13980350 rs8077302 G A 557.41 PASS BaseQRankSum=-0.673;DP=49;Dels=0.00;FS=6.770;HRun=1;HaplotypeScore=2.6548;MQ=60;MQ0=0;MQRankSum=-1.055;QD=11.38;ReadPosRankSum=1.498;SB=-277.56;TI=NM_001303;GI=COX10;FC=Missense_R159Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,22:49:99:587,0,843:60:99:0.449 chr17 14005439 rs2159132 G A 3050.70 PASS DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=52;MQ0=0;QD=27.24;SB=-1941.14;TI=NM_001303;GI=COX10;FC=Synonymous_L168L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:3084,220,0:52:99:1.000 chr17 14095309 rs2230354 A G 648.01 PASS BaseQRankSum=1.055;DP=58;Dels=0.00;FS=2.419;HRun=0;HaplotypeScore=1.7882;MQ=50;MQ0=2;MQRankSum=-0.989;QD=11.17;ReadPosRankSum=0.313;SB=-70.94;TI=NM_001303;GI=COX10;FC=Synonymous_P233P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,27:58:99:678,0,988:50:99:0.466 chr17 14095348 rs34362247 G A 127.22 LowVariantFreq;SB BaseQRankSum=0.912;DP=126;Dels=0.00;FS=7.310;HRun=0;HaplotypeScore=2.8807;MQ=43;MQ0=4;MQRankSum=-1.964;QD=1.01;ReadPosRankSum=-1.619;SB=-0.01;TI=NM_001303;GI=COX10;FC=Synonymous_P246P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,16:126:99:157,0,2823:43:99:0.127 chr17 15134231 . G A 868.89 PASS BaseQRankSum=1.081;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8499;MQ=53;MQ0=0;MQRankSum=1.216;QD=11.43;ReadPosRankSum=-1.559;SB=-578.77;TI=NM_153321,NM_153322,NM_000304;GI=PMP22,PMP22,PMP22;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,39:76:99:899,0,921:53:99:0.513 chr17 15903602 rs758853 C A 1850.31 PASS BaseQRankSum=1.029;DP=154;Dels=0.00;FS=2.051;HRun=0;HaplotypeScore=11.6644;MQ=54;MQ0=0;MQRankSum=0.852;QD=12.01;ReadPosRankSum=2.012;SB=-1078.43;TI=NM_017775;GI=TTC19;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,80:154:99:1880,0,1803:54:99:0.519 chr17 15931171 . C T 3363.75 PASS BaseQRankSum=2.859;DP=242;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2567;MQ=55;MQ0=0;MQRankSum=2.739;QD=13.90;ReadPosRankSum=0.261;SB=-1679.81;TI=NM_017775;GI=TTC19;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,130:242:99:3364,0,2770:55:99:0.537 chr17 15932071 . C CTT 2240.14 PASS BaseQRankSum=0.714;DP=119;FS=1.559;HRun=2;HaplotypeScore=233.9679;MQ=53;MQ0=0;MQRankSum=3.751;QD=18.82;ReadPosRankSum=2.238;SB=-795.38;TI=NM_017775;GI=TTC19;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,51:119:99:2279,0,2972:53:99:0.432 chr17 15932132 . C A 18.07 LowVariantFreq;SB BaseQRankSum=3.004;DP=32;Dels=0.06;FS=28.129;HRun=28;HaplotypeScore=33.2862;MQ=34;MQ0=0;MQRankSum=-0.348;QD=0.56;ReadPosRankSum=-3.131;SB=0.14 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,4:30:47.99:48,0,682:34:18:0.138 chr17 15932132 rs71353767 C CA 104.50 LowGQX;LowGQ;R8 BaseQRankSum=-0.867;DP=32;FS=2.128;HRun=28;HaplotypeScore=331.9750;MQ=34;MQ0=0;MQRankSum=0.206;QD=3.27;ReadPosRankSum=-1.528;SB=-42.15 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:20,6:32:3.13:144,3,0:34:3:0.231 chr17 15932175 . T A 6.57 LowGQX;SB BaseQRankSum=-2.708;DP=26;Dels=0.00;FS=23.096;HRun=5;HaplotypeScore=29.8957;MQ=35;MQ0=0;MQRankSum=-0.943;QD=0.25;ReadPosRankSum=-1.552;SB=0.05 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,6:26:35.48:35,0,488:35:7:0.231 chr17 15932181 . C A 53.71 SB BaseQRankSum=-3.117;DP=25;Dels=0.00;FS=29.863;HRun=5;HaplotypeScore=20.3448;MQ=37;MQ0=0;MQRankSum=-0.817;QD=2.15;ReadPosRankSum=-2.088;SB=-0.01 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,7:25:83.70:84,0,516:37:54:0.280 chr17 15932627 rs9890012 T C 175.82 PASS BaseQRankSum=1.997;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=1.278;QD=3.59;ReadPosRankSum=1.228;SB=-70.78 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,10:49:99:206,0,1187:55:99:0.204 chr17 16842912 rs11078355 A G 3110.56 PASS DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5477;MQ=53;MQ0=0;QD=30.20;SB=-1848.08;TI=NM_012452;GI=TNFRSF13B;FC=Synonymous_S277S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,103:103:99:3144,235,0:53:99:1.000 chr17 17409560 rs7946 C T 1235.63 PASS BaseQRankSum=0.807;DP=113;Dels=0.00;FS=4.684;HRun=1;HaplotypeScore=3.5764;MQ=53;MQ0=0;MQRankSum=1.818;QD=10.93;ReadPosRankSum=1.048;SB=-668.02;TI=NM_148173,NM_007169,NM_148172;GI=PEMT,PEMT,PEMT;FC=Missense_V175M,Missense_V175M,Missense_V212M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,55:113:99:1266,0,1443:53:99:0.487 chr17 17696531 rs3803763 G C 1895.21 PASS BaseQRankSum=0.184;DP=129;Dels=0.00;FS=5.517;HRun=2;HaplotypeScore=9.3347;MQ=57;MQ0=0;MQRankSum=0.470;QD=14.69;ReadPosRankSum=-0.579;SB=-1025.28;TI=NM_030665;GI=RAI1;FC=Missense_G90A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,66:129:99:1925,0,1666:57:99:0.516 chr17 17698254 rs8067439 G A 9285.73 PASS DP=309;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5691;MQ=54;MQ0=0;QD=30.05;SB=-4985.01;TI=NM_030665;GI=RAI1;FC=Synonymous_P664P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,309:309:99:9286,677,0:54:99:1.000 chr17 17700573 rs4925112 T C 3660.84 PASS BaseQRankSum=2.664;DP=280;Dels=0.00;FS=2.034;HRun=2;HaplotypeScore=11.8180;MQ=55;MQ0=0;MQRankSum=1.245;QD=13.07;ReadPosRankSum=0.095;SB=-2153.91;TI=NM_030665;GI=RAI1;FC=Synonymous_P1437P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:131,149:280:99:3661,0,3258:55:99:0.532 chr17 17707105 rs3818717 T C 1618.89 PASS BaseQRankSum=0.396;DP=124;Dels=0.00;FS=1.480;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-0.889;QD=13.06;ReadPosRankSum=0.305;SB=-1046.78;TI=NM_030665;GI=RAI1;FC=Synonymous_I1867I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,73:124:99:1649,0,1140:52:99:0.589 chr17 17719515 rs28533148 A C 40.85 SB BaseQRankSum=0.142;DP=24;Dels=0.00;FS=6.767;HRun=3;HaplotypeScore=10.1280;MQ=37;MQ0=0;MQRankSum=-2.488;QD=1.70;ReadPosRankSum=-2.132;SB=-0.01;TI=NM_004176,NM_001005291;GI=SREBF1,SREBF1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,5:24:70.84:71,0,448:37:41:0.208 chr17 17719517 . T C 40.85 LowVariantFreq;SB BaseQRankSum=1.742;DP=26;Dels=0.00;FS=6.767;HRun=1;HaplotypeScore=10.1280;MQ=37;MQ0=0;MQRankSum=-2.483;QD=1.57;ReadPosRankSum=-2.261;SB=-0.01;TI=NM_004176,NM_001005291;GI=SREBF1,SREBF1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,4:26:70.84:71,0,446:37:41:0.160 chr17 18023897 rs2955365 G A 870.57 PASS BaseQRankSum=1.167;DP=77;Dels=0.00;FS=3.305;HRun=0;HaplotypeScore=3.6141;MQ=56;MQ0=0;MQRankSum=0.749;QD=11.31;ReadPosRankSum=0.728;SB=-549.25;TI=NM_016239;GI=MYO15A;FC=Missense_A595T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,39:77:99:901,0,882:56:99:0.506 chr17 18024013 rs2955366 A G 444.23 PASS BaseQRankSum=-0.779;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=53;MQ0=0;MQRankSum=-1.728;QD=13.88;ReadPosRankSum=-1.690;SB=-165.44;TI=NM_016239;GI=MYO15A;FC=Synonymous_P633P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,18:32:99:474,0,345:53:99:0.563 chr17 18024352 rs79760961 G T 752.84 PASS BaseQRankSum=2.225;DP=71;Dels=0.00;FS=3.288;HRun=0;HaplotypeScore=9.3752;MQ=54;MQ0=0;MQRankSum=0.259;QD=10.60;ReadPosRankSum=0.558;SB=-559.37;TI=NM_016239;GI=MYO15A;FC=Missense_R746S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,35:71:99:783,0,906:54:99:0.493 chr17 18046898 rs854777 T C 3211.69 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.8076;MQ=54;MQ0=0;QD=27.93;SB=-2118.54;TI=NM_016239;GI=MYO15A;FC=Missense_C1977R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:115:99:3245,238,0:54:99:1.000 chr17 18052867 rs2955379 T C 3382.27 PASS DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5380;MQ=53;MQ0=0;QD=29.41;SB=-1272.16;TI=NM_016239;GI=MYO15A;FC=Synonymous_F2395F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3382,247,0:53:99:1.000 chr17 18055229 rs854772 G A 2067.08 PASS DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=28.32;SB=-1340.38;TI=NM_016239;GI=MYO15A;FC=Synonymous_G2619G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:2100,156,0:55:99:1.000 chr17 18057215 rs9916193 C G 2486.39 PASS DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1443;MQ=54;MQ0=0;QD=27.03;SB=-1427.98;TI=NM_016239;GI=MYO15A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:92:99:2519,181,0:54:99:1.000 chr17 18064730 rs8077577 C T 2771.98 PASS DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;QD=24.75;SB=-2026.38;TI=NM_016239;GI=MYO15A;FC=Synonymous_D3162D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:2805,196,0:50:99:1.000 chr17 18065888 rs62073604 T C 2161.60 PASS BaseQRankSum=0.014;DP=87;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=6.4700;MQ=54;MQ0=0;MQRankSum=-1.912;QD=24.85;ReadPosRankSum=-1.855;SB=-1412.81;TI=NM_016239;GI=MYO15A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,85:87:99:2195,115,0:54:99:0.977 chr17 18077175 rs854800 T C 3529.90 PASS DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1489;MQ=54;MQ0=0;QD=26.54;SB=-2383.05;TI=NM_016239;GI=MYO15A;FC=Synonymous_Y3477Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:3530,253,0:54:99:1.000 chr17 18137141 rs2290505 A G 2093.38 PASS BaseQRankSum=4.244;DP=164;Dels=0.00;FS=1.977;HRun=1;HaplotypeScore=4.5047;MQ=54;MQ0=0;MQRankSum=1.410;QD=12.76;ReadPosRankSum=-0.026;SB=-1124.81;TI=NM_004140;GI=LLGL1;FC=Missense_S148G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,87:164:99:2123,0,1807:54:99:0.530 chr17 18232096 rs1979277 G A 749.82 PASS BaseQRankSum=1.811;DP=70;Dels=0.01;FS=11.331;HRun=1;HaplotypeScore=4.6877;MQ=56;MQ0=0;MQRankSum=-0.836;QD=10.71;ReadPosRankSum=1.486;SB=-610.78;TI=NM_148918,NM_004169;GI=SHMT1,SHMT1;FC=Missense_L435F,Missense_L474F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,37:69:99:780,0,889:56:99:0.536 chr17 19578873 rs7216 A T 1128.16 PASS BaseQRankSum=1.606;DP=109;Dels=0.00;FS=6.114;HRun=0;HaplotypeScore=1.7608;MQ=55;MQ0=0;MQRankSum=0.933;QD=10.35;ReadPosRankSum=1.765;SB=-743.64;TI=NM_001031806,NM_000382;GI=ALDH3A2,ALDH3A2;FC=Silent,Synonymous_A482A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,47:109:99:1158,0,1563:55:99:0.431 chr17 19608773 rs4925042 G A 1380.18 PASS BaseQRankSum=2.176;DP=118;Dels=0.00;FS=3.367;HRun=0;HaplotypeScore=5.3097;MQ=46;MQ0=0;MQRankSum=-1.696;QD=11.70;ReadPosRankSum=1.717;SB=-980.61;TI=NM_001099646,NM_152908;GI=SLC47A2,SLC47A2;FC=Synonymous_Y295Y,Synonymous_Y331Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,62:118:99:1410,0,1236:46:99:0.530 chr17 19617236 rs4924792 G T 1318.85 PASS BaseQRankSum=0.425;DP=141;Dels=0.00;FS=3.174;HRun=0;HaplotypeScore=7.1840;MQ=56;MQ0=0;MQRankSum=0.899;QD=9.35;ReadPosRankSum=0.409;SB=-785.52;TI=NM_001099646,NM_152908;GI=SLC47A2,SLC47A2;FC=Synonymous_G115G,Synonymous_G115G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,58:141:99:1349,0,2060:56:99:0.411 chr17 19812541 rs203462 T C 713.99 PASS BaseQRankSum=2.411;DP=89;Dels=0.00;FS=0.808;HRun=0;HaplotypeScore=3.7837;MQ=51;MQ0=0;MQRankSum=1.169;QD=8.02;ReadPosRankSum=0.418;SB=-531.44;TI=NM_007202;GI=AKAP10;FC=Missense_I646V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,34:89:99:744,0,1385:51:99:0.382 chr17 19861458 rs2108978 C T 1355.39 PASS BaseQRankSum=-0.235;DP=118;Dels=0.00;FS=2.633;HRun=0;HaplotypeScore=2.7879;MQ=57;MQ0=0;MQRankSum=0.661;QD=11.49;ReadPosRankSum=1.049;SB=-561.18;TI=NM_007202;GI=AKAP10;FC=Missense_R249H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,49:118:99:1385,0,1978:57:99:0.415 chr17 21201719 rs8076154 T C 2205.08 PASS BaseQRankSum=2.794;DP=179;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.2518;MQ=53;MQ0=0;MQRankSum=-0.270;QD=12.32;ReadPosRankSum=0.997;SB=-1123.28;TI=NM_145109,NM_002756;GI=MAP2K3,MAP2K3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,96:178:99:2235,0,1960:53:99:0.539 chr17 21205460 rs62057721 C T 1606.41 PASS BaseQRankSum=0.425;DP=163;Dels=0.00;FS=1.256;HRun=0;HaplotypeScore=3.6717;MQ=51;MQ0=0;MQRankSum=-2.284;QD=9.86;ReadPosRankSum=0.599;SB=-1026.13;TI=NM_145109,NM_002756;GI=MAP2K3,MAP2K3;FC=Synonymous_D135D,Synonymous_D106D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,73:163:99:1636,0,2097:51:99:0.448 chr17 21206556 rs736103 C T 766.51 PASS BaseQRankSum=-0.023;DP=129;Dels=0.00;FS=6.302;HRun=0;HaplotypeScore=6.4149;MQ=52;MQ0=0;MQRankSum=-1.856;QD=5.94;ReadPosRankSum=-0.627;SB=-350.56;TI=NM_145109,NM_002756;GI=MAP2K3,MAP2K3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,37:129:99:797,0,2061:52:99:0.287 chr17 21207778 . T G 89.21 LowVariantFreq;SB BaseQRankSum=-2.414;DP=287;Dels=0.00;FS=0.826;HRun=1;HaplotypeScore=7.3263;MQ=54;MQ0=0;MQRankSum=4.004;QD=0.31;ReadPosRankSum=-7.886;SB=-0.36;TI=NM_145109,NM_002756;GI=MAP2K3,MAP2K3;FC=Missense_H203Q,Missense_H174Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:264,23:287:99:119,0,6393:54:89:0.080 chr17 21207813 rs74575904 T G 588.60 LowVariantFreq BaseQRankSum=4.371;DP=309;Dels=0.00;FS=6.512;HRun=2;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=-0.394;QD=1.90;ReadPosRankSum=-2.358;SB=-176.19;TI=NM_145109,NM_002756;GI=MAP2K3,MAP2K3;FC=Missense_L215W,Missense_L186W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:263,46:309:99:619,0,6459:52:99:0.149 chr17 21207835 rs76111309 G A 677.94 LowVariantFreq BaseQRankSum=0.975;DP=255;Dels=0.00;FS=5.400;HRun=1;HaplotypeScore=51.5024;MQ=53;MQ0=0;MQRankSum=0.237;QD=2.66;ReadPosRankSum=0.352;SB=-299.58;TI=NM_145109,NM_002756;GI=MAP2K3,MAP2K3;FC=Synonymous_T222T,Synonymous_T193T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:209,46:255:99:708,0,5141:53:99:0.180 chr17 21207844 rs2230436 C T 2191.97 PASS BaseQRankSum=1.839;DP=241;Dels=0.00;FS=0.491;HRun=0;HaplotypeScore=48.4031;MQ=53;MQ0=0;MQRankSum=0.417;QD=9.10;ReadPosRankSum=-1.413;SB=-1279.51;TI=NM_145109,NM_002756;GI=MAP2K3,MAP2K3;FC=Synonymous_A225A,Synonymous_A196A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:146,95:241:99:2222,0,3461:53:99:0.394 chr17 21208413 rs1657695 C T 1563.22 PASS BaseQRankSum=2.822;DP=276;Dels=0.00;FS=8.548;HRun=0;HaplotypeScore=7.1630;MQ=48;MQ0=0;MQRankSum=-2.379;QD=5.66;ReadPosRankSum=-0.892;SB=-818.55;TI=NM_145109,NM_002756;GI=MAP2K3,MAP2K3;FC=Synonymous_S249S,Synonymous_S220S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:194,81:276:99:1593,0,4543:48:99:0.295 chr17 21208449 rs1657694 G T 913.74 PASS BaseQRankSum=0.995;DP=177;Dels=0.00;FS=9.266;HRun=0;HaplotypeScore=6.6323;MQ=48;MQ0=0;MQRankSum=-1.423;QD=5.16;ReadPosRankSum=-1.273;SB=-358.75;TI=NM_145109,NM_002756;GI=MAP2K3,MAP2K3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:131,46:177:99:944,0,3142:48:99:0.260 chr17 21216846 rs1657688 G C 1808.21 PASS BaseQRankSum=0.039;DP=152;Dels=0.00;FS=1.296;HRun=0;HaplotypeScore=10.8567;MQ=49;MQ0=0;MQRankSum=-2.964;QD=11.90;ReadPosRankSum=1.283;SB=-1135.80;TI=NM_145109,NM_002756;GI=MAP2K3,MAP2K3;FC=Synonymous_L319L,Synonymous_L290L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,79:152:99:1838,0,1616:49:99:0.523 chr17 26089867 rs1060826 T C 5396.51 PASS DP=178;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0451;MQ=56;MQ0=0;QD=30.32;SB=-2786.50;TI=NM_000625;GI=NOS2;FC=Synonymous_T919T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,178:178:99:5397,394,0:56:99:1.000 chr17 26092555 rs2297512 G A 2244.83 PASS DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=29.93;SB=-1277.75;TI=NM_000625;GI=NOS2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2278,169,0:55:99:1.000 chr17 26092631 rs1060822 A G 4698.10 PASS DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=52;MQ0=0;QD=28.82;SB=-2722.21;TI=NM_000625;GI=NOS2;FC=Synonymous_G786G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,163:163:99:4698,340,0:52:99:1.000 chr17 26109030 rs3729508 T C 1055.84 PASS BaseQRankSum=1.125;DP=84;Dels=0.00;FS=0.825;HRun=0;HaplotypeScore=2.7714;MQ=52;MQ0=0;MQRankSum=1.690;QD=12.57;ReadPosRankSum=1.927;SB=-851.57;TI=NM_000625;GI=NOS2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,50:84:99:1086,0,834:52:99:0.595 chr17 26695704 rs2227725 A G 3605.64 PASS DP=121;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.7317;MQ=54;MQ0=0;QD=29.80;SB=-1706.95;TI=NM_000638;GI=VTN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3606,265,0:54:99:1.000 chr17 26727721 rs5819844 GA G 8769.70 PASS DP=210;FS=0.000;HRun=2;HaplotypeScore=130.9107;MQ=53;MQ0=0;QD=41.76;SB=-4361.33;TI=NM_015077,NM_080669;GI=SARM1,SLC46A1;FC=Noncoding,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,207:210:99:8770,623,0:53:99:1.000 chr17 26816365 rs3217046 G GC 2002.50 PASS DP=58;FS=0.000;HRun=4;HaplotypeScore=35.1637;MQ=59;MQ0=0;QD=34.53;SB=-583.74;TI=NM_001145975,NM_003984,NM_001145976,NR_027384;GI=SLC13A2,SLC13A2,SLC13A2,SLC13A2;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,54:58:99:2045,165,0:59:99:0.931 chr17 26817537 rs11568466 G A 1315.46 PASS BaseQRankSum=1.765;DP=103;Dels=0.00;FS=4.860;HRun=0;HaplotypeScore=9.1642;MQ=54;MQ0=0;MQRankSum=1.000;QD=12.77;ReadPosRankSum=-2.907;SB=-754.99;TI=NM_001145975,NM_003984,NM_001145976,NR_027384;GI=SLC13A2,SLC13A2,SLC13A2,SLC13A2;FC=Synonymous_A148A,Synonymous_A99A,Synonymous_A56A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,50:103:99:1345,0,1414:54:99:0.485 chr17 26824156 rs11567842 A G 1229.50 PASS BaseQRankSum=1.660;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=-0.289;QD=25.61;ReadPosRankSum=1.227;SB=-859.56;TI=NM_001145975,NM_003984,NM_001145976,NR_027384;GI=SLC13A2,SLC13A2,SLC13A2,SLC13A2;FC=Missense_I599V,Missense_I550V,Missense_I507V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,47:48:70.61:1263,71,0:51:71:0.979 chr17 26851602 rs2071587 C T 1206.35 PASS BaseQRankSum=0.997;DP=81;Dels=0.00;FS=1.325;HRun=0;HaplotypeScore=6.3806;MQ=57;MQ0=0;MQRankSum=0.978;QD=14.89;ReadPosRankSum=1.847;SB=-122.76;TI=NM_003593;GI=FOXN1;FC=Missense_R69C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,41:81:99:1236,0,1159:57:99:0.506 chr17 26857788 rs12449554 T C 1676.23 PASS BaseQRankSum=0.958;DP=166;Dels=0.00;FS=0.575;HRun=0;HaplotypeScore=7.3366;MQ=54;MQ0=0;MQRankSum=1.571;QD=10.10;ReadPosRankSum=0.421;SB=-1252.82;TI=NM_003593;GI=FOXN1;FC=Synonymous_L284L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,82:166:99:1706,0,1951:54:99:0.494 chr17 26861564 rs2286521 C T 535.88 PASS BaseQRankSum=0.420;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.5367;MQ=50;MQ0=0;MQRankSum=1.947;QD=10.94;ReadPosRankSum=0.871;SB=-291.22;TI=NM_003593;GI=FOXN1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,20:49:99:566,0,832:50:99:0.426 chr17 26864302 rs532648 G C 3637.96 PASS BaseQRankSum=-0.443;DP=127;Dels=0.02;FS=0.000;HRun=4;HaplotypeScore=6.3212;MQ=57;MQ0=0;MQRankSum=1.781;QD=28.65;ReadPosRankSum=-1.722;SB=-1654.35;TI=NM_003593;GI=FOXN1;FC=Missense_A599P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,123:125:99:3638,229,0:57:99:0.984 chr17 26947652 rs688536 G A 5453.74 PASS DP=199;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3097;MQ=53;MQ0=0;QD=27.41;SB=-3865.27;TI=NM_014680;GI=KIAA0100;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,199:199:99:5454,391,0:53:99:1.000 chr17 27286750 rs9907950 G A 2285.23 PASS BaseQRankSum=0.335;DP=194;Dels=0.00;FS=0.538;HRun=0;HaplotypeScore=14.1957;MQ=53;MQ0=0;MQRankSum=2.360;QD=11.78;ReadPosRankSum=0.548;SB=-1503.86;TI=NM_178860,NM_001098635;GI=SEZ6,SEZ6;FC=Synonymous_D579D,Synonymous_D579D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,99:194:99:2315,0,2029:53:99:0.516 chr17 27286851 rs1976165 T C 923.89 PASS BaseQRankSum=-0.917;DP=84;Dels=0.00;FS=4.673;HRun=0;HaplotypeScore=2.8872;MQ=55;MQ0=0;MQRankSum=1.695;QD=11.00;ReadPosRankSum=0.148;SB=-511.62;TI=NM_178860,NM_001098635;GI=SEZ6,SEZ6;FC=Missense_T546A,Missense_T546A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,42:84:99:954,0,1111:55:99:0.500 chr17 27290969 rs11450637 T TG 5510.66 PASS DP=141;FS=0.000;HRun=3;HaplotypeScore=85.1254;MQ=59;MQ0=0;QD=39.08;SB=-1892.33;TI=NM_178860,NM_001098635;GI=SEZ6,SEZ6;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,139:141:99:5511,421,0:59:99:0.986 chr17 28320248 rs4795524 T A 6133.20 PASS DP=217;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3284;MQ=55;MQ0=0;QD=28.26;SB=-3658.15;TI=NM_001145053,NR_026738,NM_198529;GI=EFCAB5,EFCAB5,EFCAB5;FC=Missense_I222K,Silent,Missense_I278K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,217:217:99:6133,439,0:55:99:1.000 chr17 28381141 rs4074170 C G 744.14 PASS DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=31.01;SB=-400.36;TI=NM_001145053,NR_026738,NM_198529;GI=EFCAB5,EFCAB5,EFCAB5;FC=Synonymous_T667T,Silent,Synonymous_T723T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:57.19:777,57,0:52:57:1.000 chr17 28407876 rs7221743 T G 5777.65 PASS DP=201;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2586;MQ=55;MQ0=0;QD=28.74;SB=-3585.93;TI=NM_198529;GI=EFCAB5;FC=Synonymous_G1101G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,199:201:99:5778,418,0:55:99:1.000 chr17 28576076 rs1050565 T C 5997.29 PASS DP=220;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7801;MQ=54;MQ0=0;QD=27.26;SB=-3863.26;TI=NM_000386;GI=BLMH;FC=Missense_I443V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,219:220:99:5997,433,0:54:99:1.000 chr17 28612448 rs7342921 G C 1990.36 PASS BaseQRankSum=-0.127;DP=80;Dels=0.00;FS=2.109;HRun=0;HaplotypeScore=0.8667;MQ=51;MQ0=0;MQRankSum=0.279;QD=24.88;ReadPosRankSum=-0.532;SB=-1387.38;TI=NM_000386;GI=BLMH;FC=Synonymous_T201T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,77:80:71.09:2023,71,0:51:71:0.963 chr17 29508775 rs1801052 G A 1085.86 PASS BaseQRankSum=-1.086;DP=127;Dels=0.00;FS=4.593;HRun=0;HaplotypeScore=21.8953;MQ=53;MQ0=0;MQRankSum=-0.234;QD=8.55;ReadPosRankSum=0.042;SB=-511.49;TI=NM_001128147,NM_001042492,NM_000267;GI=NF1,NF1,NF1;FC=Synonymous_L234L,Synonymous_L234L,Synonymous_L234L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,45:127:99:1116,0,2219:53:99:0.363 chr17 29553485 rs2285892 G A 1104.70 PASS BaseQRankSum=0.021;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.0578;MQ=56;MQ0=0;MQRankSum=0.228;QD=11.27;ReadPosRankSum=0.528;SB=-339.27;TI=NM_001042492,NM_000267;GI=NF1,NF1;FC=Synonymous_P678P,Synonymous_P678P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,45:98:99:1135,0,1379:56:99:0.459 chr17 29559088 . C T 14.32 SB;LowDP BaseQRankSum=-0.740;DP=12;Dels=0.00;FS=10.792;HRun=26;HaplotypeScore=7.3349;MQ=45;MQ0=0;MQRankSum=-0.740;QD=1.19;ReadPosRankSum=-1.664;SB=-0.00;TI=NM_001042492,NM_000267;GI=NF1,NF1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,3:12:44.15:44,0,217:45:14:0.250 chr17 32612894 rs1129844 G A 682.74 PASS BaseQRankSum=1.284;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=0.480;QD=11.01;ReadPosRankSum=-0.437;SB=-425.28;TI=NM_002986;GI=CCL11;FC=Missense_A23T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,29:62:99:713,0,741:54:99:0.468 chr17 33330017 . C T 1339.07 PASS BaseQRankSum=0.447;DP=100;Dels=0.00;FS=6.723;HRun=0;HaplotypeScore=6.5757;MQ=52;MQ0=0;MQRankSum=0.208;QD=13.39;ReadPosRankSum=-1.581;SB=-839.52;TI=NM_002311,NM_013975;GI=LIG3,LIG3;FC=Missense_R934W,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,55:100:99:1369,0,1117:52:99:0.556 chr17 33592591 rs11651240 C T 3155.33 PASS BaseQRankSum=0.101;DP=247;Dels=0.00;FS=2.166;HRun=0;HaplotypeScore=12.6149;MQ=57;MQ0=0;MQRankSum=0.060;QD=12.77;ReadPosRankSum=-0.167;SB=-1771.35;TI=NM_144975;GI=SLFN5;FC=Missense_P787L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,124:247:99:3185,0,3175:57:99:0.502 chr17 34072555 rs3744374 G A 1830.91 PASS BaseQRankSum=1.604;DP=178;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=8.2218;MQ=57;MQ0=0;MQRankSum=-1.702;QD=10.29;ReadPosRankSum=-1.002;SB=-1038.31;TI=NM_139285;GI=GAS2L2;FC=Missense_A654V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,70:178:99:1861,0,2924:57:99:0.393 chr17 34171578 . T C 7.00 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-1.480;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.0928;MQ=31;MQ0=0;MQRankSum=0.269;QD=0.41;ReadPosRankSum=0.269;SB=-0.01;TI=NM_139215,NM_003487;GI=TAF15,TAF15;FC=Synonymous_G425G,Synonymous_G422G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,3:17:36.02:36,0,287:31:7:0.188 chr17 34171590 rs4251785 A G 168.24 SB;LowDP BaseQRankSum=0.206;DP=19;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=18.5759;MQ=33;MQ0=0;MQRankSum=0.454;QD=8.85;ReadPosRankSum=1.445;SB=-0.01;TI=NM_139215,NM_003487;GI=TAF15,TAF15;FC=Synonymous_G429G,Synonymous_G426G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,8:19:99:198,0,276:33:99:0.421 chr17 35297583 . G C 14.16 LowVariantFreq;SB;LowDP BaseQRankSum=-0.322;DP=12;Dels=0.00;FS=3.424;HRun=7;HaplotypeScore=3.8606;MQ=45;MQ0=0;MQRankSum=0.322;QD=1.18;ReadPosRankSum=-2.256;SB=-0.01;TI=NM_005568;GI=LHX1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:43.99:44,0,282:45:14:0.167 chr17 35478362 rs1470452 T C 1152.75 PASS DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=27.45;SB=-825.32;TI=NM_198837,NM_198838,NM_198836,NM_198839,NM_198834;GI=ACACA,ACACA,ACACA,ACACA,ACACA;FC=Synonymous_T1968T,Synonymous_T1948T,Synonymous_T2026T,Synonymous_T2026T,Synonymous_T2063T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:84.28:1186,84,0:50:84:1.000 chr17 35696804 rs58654829 G A 2272.95 PASS DP=75;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=10.6742;MQ=51;MQ0=0;QD=30.31;SB=-1211.49;TI=NM_198836,NM_198839,NM_198834;GI=ACACA,ACACA,ACACA;FC=Silent,Silent,Synonymous_F15F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2306,178,0:51:99:1.000 chr17 35696820 . AAAAG A 5608.15 PASS DP=80;FS=0.000;HRun=0;HaplotypeScore=434.0357;MQ=51;MQ0=0;QD=70.10;SB=-2207.17;TI=NM_198836,NM_198839,NM_198834;GI=ACACA,ACACA,ACACA;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,78:80:99:5608,241,0:51:99:0.975 chr17 37822311 rs1053651 A C 6888.00 PASS DP=237;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.3659;MQ=55;MQ0=0;QD=29.06;SB=-3080.22;TI=NM_003673;GI=TCAP;FC=Synonymous_A151A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,236:237:99:6888,503,0:55:99:1.000 chr17 37879588 rs1136201 A G 2586.97 PASS DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=53;MQ0=0;QD=28.74;SB=-1275.64;TI=NM_001005862,NM_004448;GI=ERBB2,ERBB2;FC=Missense_I625V,Missense_I655V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2620,193,0:53:99:1.000 chr17 37884037 rs61552325 C G 1535.47 PASS BaseQRankSum=1.219;DP=133;Dels=0.00;FS=4.307;HRun=2;HaplotypeScore=15.4171;MQ=56;MQ0=0;MQRankSum=1.908;QD=11.54;ReadPosRankSum=1.196;SB=-962.96;TI=NM_001005862,NM_004448;GI=ERBB2,ERBB2;FC=Missense_P1140A,Missense_P1170A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,61:133:99:1565,0,1766:56:99:0.462 chr17 38024626 rs11557466 C T 865.25 PASS BaseQRankSum=-0.260;DP=88;Dels=0.00;FS=1.905;HRun=1;HaplotypeScore=3.4870;MQ=55;MQ0=0;MQRankSum=-0.277;QD=9.83;ReadPosRankSum=-0.952;SB=-469.31;TI=NM_199321,NM_198844;GI=ZPBP2,ZPBP2;FC=Synonymous_L7L,Synonymous_L7L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,39:88:99:895,0,1319:55:99:0.448 chr17 38028634 rs11557467 G T 11.01 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=11.01;SB=-0.01;TI=NM_199321,NM_198844;GI=ZPBP2,ZPBP2;FC=Missense_S173I,Missense_S151I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:41,3,0:60:3:1.000 chr17 38031674 rs10852935 C T 5.92 LowGQX;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.804;QD=2.96;ReadPosRankSum=0.804;SB=-0.01;TI=NM_199321,NM_198844;GI=ZPBP2,ZPBP2;FC=Synonymous_C292C,Synonymous_C270C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:34.63:35,0,35:60:6:0.500 chr17 38062196 rs2305480 G A 1639.32 PASS BaseQRankSum=2.150;DP=156;Dels=0.00;FS=0.595;HRun=0;HaplotypeScore=7.2310;MQ=53;MQ0=0;MQRankSum=1.994;QD=10.51;ReadPosRankSum=-0.426;SB=-1008.88;TI=NM_018530,NM_001165959,NM_001042471,NM_001165958;GI=GSDMB,GSDMB,GSDMB,GSDMB;FC=Missense_P289S,Missense_P302S,Missense_P298S,Missense_P311S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,70:156:99:1669,0,2052:53:99:0.449 chr17 38062217 rs2305479 C T 1762.54 PASS BaseQRankSum=0.996;DP=140;Dels=0.00;FS=6.322;HRun=0;HaplotypeScore=10.3534;MQ=55;MQ0=0;MQRankSum=3.997;QD=12.59;ReadPosRankSum=-0.841;SB=-1082.10;TI=NM_018530,NM_001165959,NM_001042471,NM_001165958;GI=GSDMB,GSDMB,GSDMB,GSDMB;FC=Missense_G282R,Missense_G295R,Missense_G291R,Missense_G304R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,66:140:99:1793,0,1868:55:99:0.471 chr17 38064469 rs11078928 T C 1335.09 PASS BaseQRankSum=1.306;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6817;MQ=50;MQ0=0;MQRankSum=0.880;QD=12.48;ReadPosRankSum=0.988;SB=-965.79;TI=NM_018530,NM_001165959,NM_001042471,NM_001165958;GI=GSDMB,GSDMB,GSDMB,GSDMB;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,64:107:99:1365,0,934:50:99:0.598 chr17 38121993 rs3894194 G A 1389.80 PASS BaseQRankSum=-1.414;DP=177;Dels=0.00;FS=4.551;HRun=1;HaplotypeScore=5.4747;MQ=55;MQ0=0;MQRankSum=0.721;QD=7.85;ReadPosRankSum=0.033;SB=-1052.85;TI=NM_178171;GI=GSDMA;FC=Missense_R18Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,73:177:99:1420,0,2443:55:99:0.415 chr17 38122680 rs7212938 G T 178.56 LowDP BaseQRankSum=-0.910;DP=14;Dels=0.00;FS=2.246;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.663;QD=12.75;ReadPosRankSum=-0.663;SB=-31.62;TI=NM_178171;GI=GSDMA;FC=Missense_V128L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,7:14:99:209,0,177:57:99:0.500 chr17 38126911 . AACACACAC A 2904.72 R8 BaseQRankSum=-1.029;DP=134;FS=1.163;HRun=0;HaplotypeScore=245.9259;MQ=50;MQ0=0;MQRankSum=-1.278;QD=21.68;ReadPosRankSum=-0.678;SB=-482.70;TI=NM_178171;GI=GSDMA;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,38:134:99:2944,0,2761:50:99:0.309 chr17 38131187 rs56030650 C A 818.06 PASS BaseQRankSum=0.634;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=1.200;QD=9.74;ReadPosRankSum=2.269;SB=-527.63;TI=NM_178171;GI=GSDMA;FC=Missense_T314N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,38:84:99:848,0,1180:51:99:0.452 chr17 38450248 rs4135012 G A 2343.65 PASS BaseQRankSum=1.022;DP=174;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8939;MQ=53;MQ0=0;MQRankSum=0.683;QD=13.47;ReadPosRankSum=1.638;SB=-1547.25;TI=NM_001254;GI=CDC6;FC=Missense_D295N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,95:174:99:2374,0,2025:53:99:0.546 chr17 38975245 . C G 17.35 LowVariantFreq;SB BaseQRankSum=-1.052;DP=22;Dels=0.00;FS=12.632;HRun=0;HaplotypeScore=6.2586;MQ=46;MQ0=0;MQRankSum=-2.200;QD=0.79;ReadPosRankSum=-0.765;SB=-0.01;TI=NM_000421;GI=KRT10;FC=Synonymous_G514G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,3:22:47.26:47,0,503:46:17:0.136 chr17 38975281 . T G 27.28 LowVariantFreq;SB;LowDP BaseQRankSum=-0.829;DP=19;Dels=0.00;FS=6.864;HRun=0;HaplotypeScore=23.2786;MQ=48;MQ0=0;MQRankSum=-2.369;QD=1.44;ReadPosRankSum=-1.303;SB=-0.01;TI=NM_000421;GI=KRT10;FC=Synonymous_G502G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,3:19:57.26:57,0,378:48:27:0.167 chr17 38975307 . TGCCGCCGTGGCC T 590.96 PASS BaseQRankSum=-1.905;DP=21;FS=0.000;HRun=0;HaplotypeScore=205.8884;MQ=48;MQ0=0;MQRankSum=-1.059;QD=28.14;ReadPosRankSum=-0.953;SB=-238.73;TI=NM_000421;GI=KRT10;FC=4AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,7:21:99:630,0,874:48:99:0.333 chr17 38975328 rs17855579 G A 261.46 PASS BaseQRankSum=0.112;DP=21;Dels=0.00;FS=2.162;HRun=0;HaplotypeScore=2.5584;MQ=51;MQ0=0;MQRankSum=0.634;QD=12.45;ReadPosRankSum=1.529;SB=-163.68;TI=NM_000421;GI=KRT10;FC=Missense_H487Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,14:21:99:291,0,142:51:99:0.667 chr17 38978536 rs4261597 A C 619.80 LowDP DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=34.43;SB=-283.24;TI=NM_000421,NM_001195387,NM_145274,NM_001195386;GI=KRT10,TMEM99,TMEM99,TMEM99;FC=Missense_I101S,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,18:18:51.14:653,51,0:57:51:1.000 chr17 39023396 rs11650915 G A 71.20 SB;LowDP BaseQRankSum=-0.358;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.358;QD=14.24;ReadPosRankSum=0.358;SB=-0.01;TI=NM_000223;GI=KRT12;FC=Missense_P15S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,3:5:63.39:101,0,63:60:63:0.600 chr17 39580559 rs9916475 T A 374.55 PASS BaseQRankSum=0.899;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=59;MQ0=0;MQRankSum=-0.527;QD=16.28;ReadPosRankSum=-0.589;SB=-175.51;TI=NM_003770;GI=KRT37;FC=Missense_S73C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,13:23:99:405,0,286:59:99:0.565 chr17 39580562 rs9916484 T C 335.37 PASS BaseQRankSum=-0.817;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=59;MQ0=0;MQRankSum=0.817;QD=15.97;ReadPosRankSum=-0.533;SB=-174.82;TI=NM_003770;GI=KRT37;FC=Missense_T72A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,12:21:99:365,0,269:59:99:0.571 chr17 39580660 rs9916724 T C 259.80 PASS BaseQRankSum=0.031;DP=23;Dels=0.00;FS=1.643;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.155;QD=11.30;ReadPosRankSum=1.271;SB=-156.21;TI=NM_003770;GI=KRT37;FC=Missense_N39S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,10:23:99:290,0,359:60:99:0.435 chr17 39580739 rs9910204 C A 269.63 PASS BaseQRankSum=-1.569;DP=23;Dels=0.00;FS=4.419;HRun=0;HaplotypeScore=1.8939;MQ=58;MQ0=0;MQRankSum=0.954;QD=11.72;ReadPosRankSum=-2.431;SB=-136.91;TI=NM_003770;GI=KRT37;FC=Missense_G13C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,11:23:99:300,0,320:58:99:0.478 chr17 39593768 rs897416 A G 3350.72 PASS DP=109;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.0704;MQ=54;MQ0=0;QD=30.74;SB=-1842.39;TI=NM_006771;GI=KRT38;FC=Missense_S423P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:109:99:3351,247,0:54:99:1.000 chr17 39595116 rs9894668 G T 885.69 PASS BaseQRankSum=0.754;DP=68;Dels=0.00;FS=3.586;HRun=0;HaplotypeScore=13.5055;MQ=52;MQ0=0;MQRankSum=-2.835;QD=13.02;ReadPosRankSum=-0.841;SB=-570.31;TI=NM_006771;GI=KRT38;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,40:68:99:916,0,691:52:99:0.588 chr17 39596402 rs2071610 G A 1272.26 PASS BaseQRankSum=1.441;DP=88;Dels=0.00;FS=2.866;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=3.129;QD=14.46;ReadPosRankSum=-0.313;SB=-696.53;TI=NM_006771;GI=KRT38;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,46:88:99:1302,0,964:54:99:0.523 chr17 39659183 rs4796698 G A 2242.31 PASS BaseQRankSum=0.729;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2820;MQ=53;MQ0=0;MQRankSum=-0.775;QD=29.50;ReadPosRankSum=-0.866;SB=-1325.08;TI=NM_002274,NM_153490;GI=KRT13,KRT13;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,75:76:99:2275,137,0:53:99:0.987 chr17 39659194 rs4796697 T C 2374.43 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6451;MQ=52;MQ0=0;QD=30.84;SB=-1410.89;TI=NM_002274,NM_153490;GI=KRT13,KRT13;FC=Missense_T298A,Missense_T298A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2407,181,0:52:99:1.000 chr17 39659529 rs7211835 T C 2592.55 PASS DP=91;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.5596;MQ=57;MQ0=0;QD=28.49;SB=-1533.31;TI=NM_002274,NM_153490;GI=KRT13,KRT13;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2626,190,0:57:99:1.000 chr17 39659913 rs9891361 G A 1676.01 PASS DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=53;MQ0=0;QD=29.93;SB=-935.15;TI=NM_002274,NM_153490;GI=KRT13,KRT13;FC=Missense_A187V,Missense_A187V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:1709,126,0:53:99:1.000 chr17 39661689 rs8182306 G A 224.37 LowGQ;SB;LowDP DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=32.05;SB=-0.01;TI=NM_002274,NM_153490;GI=KRT13,KRT13;FC=Synonymous_S38S,Synonymous_S38S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,7:7:21.06:257,21,0:57:21:1.000 chr17 39723990 rs3890472 T A 159.66 PASS BaseQRankSum=-1.135;DP=22;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=0.8941;MQ=46;MQ0=0;MQRankSum=-0.935;QD=7.26;ReadPosRankSum=-1.269;SB=-40.65;TI=NM_000226;GI=KRT9;FC=Synonymous_G469G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,9:22:99:190,0,379:46:99:0.409 chr17 39726276 rs3816510 C A 370.80 PASS BaseQRankSum=1.732;DP=40;Dels=0.00;FS=4.527;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=1.006;QD=9.27;ReadPosRankSum=0.196;SB=-183.69;TI=NM_000226;GI=KRT9;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,15:40:99:401,0,762:60:99:0.375 chr17 39727816 rs8075921 T G 546.00 PASS BaseQRankSum=0.772;DP=66;Dels=0.00;FS=0.983;HRun=0;HaplotypeScore=2.6274;MQ=51;MQ0=0;MQRankSum=0.175;QD=8.27;ReadPosRankSum=-0.422;SB=-412.59;TI=NM_000226;GI=KRT9;FC=Synonymous_G143G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,28:66:99:576,0,934:51:99:0.424 chr17 39727894 . A G 350.03 PASS BaseQRankSum=-0.102;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.6013;MQ=56;MQ0=0;MQRankSum=-0.717;QD=15.22;ReadPosRankSum=1.126;SB=-125.70;TI=NM_000226;GI=KRT9;FC=Synonymous_G117G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,14:23:99:380,0,158:56:99:0.636 chr17 39728050 rs8070680 G A 1367.09 PASS DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9384;MQ=57;MQ0=0;QD=27.90;SB=-773.08;TI=NM_000226;GI=KRT9;FC=Synonymous_G65G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1400,105,0:57:99:1.000 chr17 39742718 rs3826549;rs61729648 A G 6129.59 PASS DP=231;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.3895;MQ=50;MQ0=23;QD=26.54;SB=-3410.44;TI=NM_000526;GI=KRT14;FC=Synonymous_N123N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:10,221:231:99:6130,451,0:50:99:0.957 chr17 39742894 rs3826551 G A 2012.95 PASS BaseQRankSum=3.159;DP=73;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=16.8107;MQ=49;MQ0=0;MQRankSum=1.217;QD=27.57;ReadPosRankSum=0.184;SB=-951.82;TI=NM_000526;GI=KRT14;FC=Synonymous_L65L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,68:72:99:2046,142,0:49:99:0.944 chr17 39742898 rs11551758 G A 1849.22 PASS BaseQRankSum=0.379;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.2142;MQ=50;MQ0=0;MQRankSum=1.570;QD=28.89;ReadPosRankSum=1.624;SB=-952.07;TI=NM_000526;GI=KRT14;FC=Synonymous_C63C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,63:64:99:1882,126,0:50:99:0.984 chr17 39742899 rs6503640 C T 1775.89 PASS BaseQRankSum=0.467;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.1083;MQ=50;MQ0=0;MQRankSum=1.237;QD=28.19;ReadPosRankSum=1.677;SB=-862.10;TI=NM_000526;GI=KRT14;FC=Missense_C63Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,62:63:99:1809,117,0:50:99:0.984 chr17 39742921 . G A 418.83 PASS BaseQRankSum=0.242;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5652;MQ=55;MQ0=0;MQRankSum=-0.494;QD=8.55;ReadPosRankSum=0.305;SB=-185.58;TI=NM_000526;GI=KRT14;FC=Missense_R56C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,17:49:99:449,0,890:55:99:0.347 chr17 39743081 rs11551759 G A 1014.74 PASS DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.19;SB=-338.80;TI=NM_000526;GI=KRT14;FC=Synonymous_T2T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,36:36:78.25:1048,78,0:53:78:1.000 chr17 39767744 rs4796681 A G 3073.26 PASS BaseQRankSum=1.889;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4939;MQ=56;MQ0=0;MQRankSum=-0.938;QD=30.43;ReadPosRankSum=0.987;SB=-1512.12;TI=NM_005557;GI=KRT16;FC=Synonymous_H208H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,99:101:99:3106,171,0:56:99:0.980 chr17 39780549 . G T 1392.61 PASS BaseQRankSum=-0.161;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.9814;MQ=55;MQ0=0;MQRankSum=0.383;QD=10.47;ReadPosRankSum=0.715;SB=-696.83;TI=NM_000422;GI=KRT17;FC=Missense_S71R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,58:133:99:1423,0,1811:55:99:0.436 chr17 39912145 rs1126821 T A 1343.24 PASS DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8936;MQ=58;MQ0=0;QD=28.58;SB=-907.59;TI=NM_002230,NM_021991;GI=JUP,JUP;FC=Missense_M697L,Missense_M697L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:99:1376,99,0:58:99:1.000 chr17 39998141 rs1529933 C T 1035.96 PASS BaseQRankSum=0.175;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1147;MQ=55;MQ0=0;MQRankSum=1.762;QD=12.79;ReadPosRankSum=1.979;SB=-492.29;TI=NM_152467;GI=KLHL10;FC=Synonymous_P87P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,41:81:99:1066,0,1032:55:99:0.506 chr17 40025285 rs9914829 A G 1601.23 PASS BaseQRankSum=1.532;DP=96;Dels=0.00;FS=2.856;HRun=0;HaplotypeScore=2.7880;MQ=57;MQ0=0;MQRankSum=-0.685;QD=16.68;ReadPosRankSum=0.648;SB=-547.98;TI=NM_001096,NM_198830;GI=ACLY,ACLY;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,53:96:99:1631,0,1232:57:99:0.552 chr17 40048613 rs8065502 A G 925.01 PASS BaseQRankSum=3.206;DP=66;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=1.140;QD=14.02;ReadPosRankSum=-0.420;SB=-692.60;TI=NM_001096,NM_198830;GI=ACLY,ACLY;FC=Synonymous_H563H,Synonymous_H553H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,42:66:99:955,0,511:51:99:0.636 chr17 40477064 . C G 417.00 PASS BaseQRankSum=-1.119;DP=75;Dels=0.00;FS=2.071;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=-0.608;QD=5.56;ReadPosRankSum=1.846;SB=-338.43;TI=NM_213662,NM_003150,NM_139276;GI=STAT3,STAT3,STAT3;FC=Missense_V461L,Missense_V461L,Missense_V461L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,24:75:99:447,0,1269:51:99:0.320 chr17 40688387 . C G 6.77 LowGQX;LowDP BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-1.026;QD=1.69;ReadPosRankSum=1.026;SB=-28.77;TI=NM_000263;GI=NAGLU;FC=Missense_R33G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:35.73:36,0,68:60:7:0.500 chr17 40689455 rs659497 T C 6878.11 PASS DP=261;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3882;MQ=52;MQ0=0;QD=26.35;SB=-4909.62;TI=NM_000263;GI=NAGLU;FC=Synonymous_S141S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,261:261:99:6878,488,0:52:99:1.000 chr17 40696233 rs86312 C G 2657.20 PASS DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58;MQ0=0;QD=34.51;SB=-359.86;TI=NM_000263;GI=NAGLU;FC=Missense_R737G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2690,205,0:58:99:1.000 chr17 40706906 rs605059 G A 177.93 SB;LowDP BaseQRankSum=0.143;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9837;MQ=56;MQ0=0;MQRankSum=-0.466;QD=16.18;ReadPosRankSum=1.932;SB=-0.01;TI=NM_000413;GI=HSD17B1;FC=Missense_G313S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,6:11:99:208,0,155:56:99:0.545 chr17 41196814 . C T 79.67 SB BaseQRankSum=-1.874;DP=70;Dels=0.03;FS=12.127;HRun=3;HaplotypeScore=180.5509;MQ=38;MQ0=0;MQRankSum=-0.903;QD=1.14;ReadPosRankSum=-2.576;SB=-0.01;TI=NM_007298,NR_027676,NM_007299,NM_007297,NM_007294,NM_007300;GI=BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,18:68:99:110,0,757:38:80:0.281 chr17 41196815 . A T 127.08 SB BaseQRankSum=-3.106;DP=71;Dels=0.01;FS=17.344;HRun=4;HaplotypeScore=179.6513;MQ=37;MQ0=0;MQRankSum=0.385;QD=1.79;ReadPosRankSum=-0.584;SB=-0.01;TI=NM_007298,NR_027676,NM_007299,NM_007297,NM_007294,NM_007300;GI=BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,21:70:99:157,0,832:37:99:0.309 chr17 41196820 . C T 39.23 LowVariantFreq;SB BaseQRankSum=0.265;DP=72;Dels=0.06;FS=8.671;HRun=4;HaplotypeScore=165.4779;MQ=36;MQ0=0;MQRankSum=-0.128;QD=0.54;ReadPosRankSum=-3.113;SB=-0.01;TI=NM_007298,NR_027676,NM_007299,NM_007297,NM_007294,NM_007300;GI=BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,9:68:69.22:69,0,643:36:39:0.143 chr17 41196821 . C T 127.05 SB BaseQRankSum=-1.888;DP=72;Dels=0.08;FS=8.095;HRun=19;HaplotypeScore=159.9191;MQ=36;MQ0=0;MQRankSum=-0.291;QD=1.76;ReadPosRankSum=-2.560;SB=-0.01;TI=NM_007298,NR_027676,NM_007299,NM_007297,NM_007294,NM_007300;GI=BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,17:66:99:157,0,883:36:99:0.262 chr17 41196821 . CTTT C 397.97 LowVariantFreq;R8 BaseQRankSum=-0.612;DP=72;FS=3.355;HRun=19;HaplotypeScore=718.6757;MQ=36;MQ0=0;MQRankSum=-1.412;QD=5.53;ReadPosRankSum=0.447;SB=-42.73;TI=NM_007298,NR_027676,NM_007299,NM_007297,NM_007294,NM_007300;GI=BRCA1,BRCA1,BRCA1,BRCA1,BRCA1,BRCA1;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,6:72:99:437,0,1087:36:99:0.140 chr17 42030531 rs1058046 G C 3325.04 PASS DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4023;MQ=56;MQ0=0;QD=31.37;SB=-2003.22;TI=NM_004160;GI=PYY;FC=Missense_T72R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:3325,247,0:56:99:1.000 chr17 42030743 rs229969 G C 5496.03 PASS DP=184;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.6854;MQ=57;MQ0=0;QD=29.87;SB=-3115.99;TI=NM_004160;GI=PYY;FC=Missense_R37G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,183:184:99:5496,400,0:57:99:1.000 chr17 42085150 rs228773 T C 891.93 SB DP=24;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4050;MQ=56;MQ0=0;QD=37.16;SB=-0.01;TI=NM_153006;GI=NAGS;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:72.22:925,72,0:56:72:1.000 chr17 42085972 rs186636 C T 755.95 PASS DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60;MQ0=0;QD=31.50;SB=-283.89;TI=NM_153006;GI=NAGS;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:57.19:789,57,0:60:57:1.000 chr17 42148205 rs228758 C T 1415.30 PASS DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6214;MQ=57;MQ0=0;QD=34.52;SB=-105.22;TI=NR_028581,NM_138387,NR_028582;GI=G6PC3,G6PC3,G6PC3;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:99:1448,111,0:57:99:1.000 chr17 42337263 . G T 636.28 PASS BaseQRankSum=1.247;DP=85;Dels=0.00;FS=0.841;HRun=0;HaplotypeScore=3.6717;MQ=54;MQ0=0;MQRankSum=-0.041;QD=7.49;ReadPosRankSum=0.903;SB=-447.20;TI=NM_000342;GI=SLC4A1;FC=Missense_P175T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,32:85:99:666,0,1208:54:99:0.376 chr17 42338998 rs5035 T G 1740.89 PASS BaseQRankSum=2.099;DP=197;Dels=0.00;FS=1.128;HRun=1;HaplotypeScore=10.2460;MQ=51;MQ0=0;MQRankSum=0.248;QD=8.84;ReadPosRankSum=0.413;SB=-1259.14;TI=NM_000342;GI=SLC4A1;FC=Missense_D38A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,81:197:99:1771,0,2780:51:99:0.411 chr17 42426678 . C A 6.19 LowGQX;LowVariantFreq BaseQRankSum=1.093;DP=46;Dels=0.00;FS=1.841;HRun=0;HaplotypeScore=5.2274;MQ=59;MQ0=0;MQRankSum=1.451;QD=0.13;ReadPosRankSum=-2.299;SB=-40.69;TI=NM_002087;GI=GRN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,6:46:34.99:35,0,1116:59:6:0.130 chr17 42475983 rs936019 G C 1146.69 PASS DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=59;MQ0=0;QD=33.73;SB=-458.58;TI=NR_036474,NM_001002909;GI=GPATCH8,GPATCH8;FC=Silent,Synonymous_T1154T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:90.29:1180,90,0:59:90:1.000 chr17 42949808 rs11654183 G A 1212.76 PASS BaseQRankSum=0.173;DP=85;Dels=0.00;FS=0.816;HRun=0;HaplotypeScore=11.7484;MQ=53;MQ0=0;MQRankSum=1.059;QD=14.27;ReadPosRankSum=-0.793;SB=-814.13;TI=NM_004247,NM_001142605;GI=EFTUD2,EFTUD2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,48:85:99:1243,0,836:53:99:0.565 chr17 42961009 rs2289677 C T 872.85 PASS BaseQRankSum=0.033;DP=65;Dels=0.00;FS=0.953;HRun=0;HaplotypeScore=6.5431;MQ=53;MQ0=0;MQRankSum=1.020;QD=13.43;ReadPosRankSum=0.717;SB=-543.80;TI=NM_004247,NM_001142605;GI=EFTUD2,EFTUD2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,35:65:99:903,0,774:53:99:0.538 chr17 42980189 rs8079308 G A 797.79 PASS BaseQRankSum=1.240;DP=65;Dels=0.00;FS=0.942;HRun=0;HaplotypeScore=4.7874;MQ=53;MQ0=0;MQRankSum=1.266;QD=12.27;ReadPosRankSum=-2.054;SB=-537.63;TI=NM_213607;GI=CCDC103;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,33:65:99:828,0,727:53:99:0.508 chr17 42987524 rs9916491 T C 1499.99 PASS BaseQRankSum=-0.205;DP=125;Dels=0.00;FS=1.451;HRun=0;HaplotypeScore=4.8826;MQ=55;MQ0=0;MQRankSum=1.525;QD=12.00;ReadPosRankSum=-1.969;SB=-736.79;TI=NM_002055,NM_001131019;GI=GFAP,GFAP;FC=Silent,Missense_T426A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,60:125:99:1530,0,1643:55:99:0.480 chr17 44061025 rs63750222 C T 2967.63 PASS BaseQRankSum=0.354;DP=204;Dels=0.00;FS=1.837;HRun=0;HaplotypeScore=11.0801;MQ=55;MQ0=0;MQRankSum=1.311;QD=14.55;ReadPosRankSum=-0.776;SB=-1385.45;TI=NM_016835,NM_005910,NM_016834,NM_016841,NM_001123066,NM_001123067;GI=MAPT,MAPT,MAPT,MAPT,MAPT,MAPT;FC=Synonymous_D285D,Silent,Silent,Silent,Synonymous_D285D,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,121:204:99:2998,0,2108:55:99:0.596 chr17 44067382 rs2258689 T C 2580.30 PASS BaseQRankSum=2.056;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4363;MQ=53;MQ0=0;MQRankSum=2.523;QD=12.23;ReadPosRankSum=-0.766;SB=-1467.26;TI=NM_016835,NM_005910,NM_016834,NM_016841,NM_001123066,NM_001123067;GI=MAPT,MAPT,MAPT,MAPT,MAPT,MAPT;FC=Missense_Y441H,Silent,Silent,Silent,Missense_Y441H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,107:211:99:2610,0,2568:53:99:0.507 chr17 44117135 rs2277613 C T 1814.33 PASS BaseQRankSum=3.054;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2548;MQ=56;MQ0=0;MQRankSum=1.652;QD=10.31;ReadPosRankSum=0.243;SB=-908.91;TI=NM_001193466,NM_015443,NM_001193465;GI=KIAA1267,KIAA1267,KIAA1267;FC=Synonymous_P712P,Synonymous_P712P,Synonymous_P712P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,73:176:99:1844,0,2729:56:99:0.415 chr17 44144993 . C G 2486.61 PASS DP=93;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8667;MQ=53;MQ0=0;QD=26.74;SB=-1786.19;TI=NM_001193466,NM_015443,NM_001193465;GI=KIAA1267,KIAA1267,KIAA1267;FC=Missense_R525P,Missense_R525P,Missense_R525P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:93:99:2520,181,0:53:99:1.000 chr17 44248499 rs2240758 G C 97.36 LowDP BaseQRankSum=0.633;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.365;QD=9.74;ReadPosRankSum=-1.036;SB=-55.09;TI=NM_001193466,NM_015443,NM_001193465;GI=KIAA1267,KIAA1267,KIAA1267;FC=Synonymous_S337S,Synonymous_S337S,Synonymous_S337S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,4:10:99:127,0,180:58:97:0.400 chr17 44851024 . A C 71.82 SB BaseQRankSum=-2.850;DP=37;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=73.7556;MQ=49;MQ0=0;MQRankSum=-3.522;QD=1.94;ReadPosRankSum=2.425;SB=-0.01;TI=NM_030753;GI=WNT3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,9:37:99:102,0,763:49:72:0.243 chr17 45008570 rs197922 G A 1176.08 PASS BaseQRankSum=1.171;DP=130;Dels=0.00;FS=0.675;HRun=1;HaplotypeScore=4.7851;MQ=53;MQ0=0;MQRankSum=0.713;QD=9.05;ReadPosRankSum=-0.986;SB=-603.81;TI=NM_001012511,NM_054022,NM_004287;GI=GOSR2,GOSR2,GOSR2;FC=Missense_R67K,Missense_R67K,Missense_R67K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,46:130:99:1206,0,2041:53:99:0.354 chr17 45385012 rs3809863 C T 745.00 PASS BaseQRankSum=1.038;DP=80;Dels=0.00;FS=1.910;HRun=0;HaplotypeScore=2.8937;MQ=54;MQ0=0;MQRankSum=0.272;QD=9.31;ReadPosRankSum=2.124;SB=-502.73;TI=NM_000212;GI=ITGB3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,35:80:99:775,0,1124:54:99:0.438 chr17 46020698 rs11079804 C T 664.07 PASS BaseQRankSum=-1.836;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=50;MQ0=0;MQRankSum=-0.167;QD=9.35;ReadPosRankSum=0.029;SB=-433.15;TI=NM_018129;GI=PNPO;FC=Synonymous_S55S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,34:71:99:694,0,829:50:99:0.479 chr17 47039132 rs2291725 T C 1507.89 PASS BaseQRankSum=2.323;DP=96;Dels=0.00;FS=1.690;HRun=1;HaplotypeScore=6.3984;MQ=57;MQ0=0;MQRankSum=0.989;QD=15.71;ReadPosRankSum=-1.063;SB=-640.03;TI=NM_004123;GI=GIP;FC=Missense_S103G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,49:96:99:1538,0,1365:57:99:0.510 chr17 47486684 rs2277637 T C 780.91 PASS BaseQRankSum=1.783;DP=64;Dels=0.00;FS=3.594;HRun=0;HaplotypeScore=7.2818;MQ=55;MQ0=0;MQRankSum=1.783;QD=12.20;ReadPosRankSum=0.720;SB=-479.84;TI=NM_002634;GI=PHB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,34:64:99:811,0,758:55:99:0.531 chr17 48151271 . C T 1551.32 PASS BaseQRankSum=-0.488;DP=141;Dels=0.00;FS=3.016;HRun=4;HaplotypeScore=10.1142;MQ=52;MQ0=0;MQRankSum=0.980;QD=11.00;ReadPosRankSum=2.077;SB=-957.94;TI=NM_002204,NM_005501;GI=ITGA3,ITGA3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,67:141:99:1581,0,1492:52:99:0.479 chr17 48151849 rs61730081 G A 1375.37 PASS BaseQRankSum=0.172;DP=122;Dels=0.00;FS=3.349;HRun=0;HaplotypeScore=2.6823;MQ=51;MQ0=0;MQRankSum=1.862;QD=11.27;ReadPosRankSum=0.878;SB=-763.95;TI=NM_002204,NM_005501;GI=ITGA3,ITGA3;FC=Missense_V474M,Missense_V474M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,60:122:99:1405,0,1409:51:99:0.492 chr17 48151908 rs4793639 T C 2009.90 PASS DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.92;SB=-1332.93;TI=NM_002204,NM_005501;GI=ITGA3,ITGA3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:2043,147,0:52:99:1.000 chr17 48252804 rs2696288 T C 2302.74 PASS DP=75;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.70;SB=-962.76;TI=NM_000023,NM_001135697;GI=SGCA,SGCA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2336,172,0:57:99:1.000 chr17 48265495 rs1800215 T C 2595.30 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.7945;MQ=51;MQ0=0;QD=29.16;SB=-1349.34;TI=NM_000088;GI=COL1A1;FC=Missense_T1075A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:89:99:2628,208,0:51:99:1.000 chr17 48268223 rs2734272 A G 2875.02 PASS DP=114;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8857;MQ=53;MQ0=0;QD=25.22;SB=-2204.02;TI=NM_000088;GI=COL1A1;FC=Synonymous_T766T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,114:114:99:2908,205,0:53:99:1.000 chr17 48433958 rs4794136 T C 2523.90 PASS BaseQRankSum=3.678;DP=199;Dels=0.00;FS=5.912;HRun=0;HaplotypeScore=11.1151;MQ=55;MQ0=0;MQRankSum=1.997;QD=12.68;ReadPosRankSum=0.186;SB=-1683.14;TI=NM_022167;GI=XYLT2;FC=Synonymous_Y523Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,104:199:99:2554,0,2358:55:99:0.523 chr17 48437456 rs6504649 C G 2357.49 PASS BaseQRankSum=-0.657;DP=192;Dels=0.00;FS=12.397;HRun=0;HaplotypeScore=9.4665;MQ=56;MQ0=0;MQRankSum=-1.359;QD=12.28;ReadPosRankSum=-0.294;SB=-1311.57;TI=NM_022167;GI=XYLT2;FC=Missense_T801R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,97:192:99:2387,0,2399:56:99:0.505 chr17 48452776 rs76372682 A C 1299.67 PASS BaseQRankSum=1.650;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.743;QD=30.94;ReadPosRankSum=-1.403;SB=-737.22;TI=NM_152463,NM_001166131;GI=EME1,EME1;FC=Missense_E69D,Missense_E69D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,41:42:99:1333,99,0:57:99:0.976 chr17 48452978 . A AAGC 1260.86 PASS BaseQRankSum=0.054;DP=60;FS=2.273;HRun=0;HaplotypeScore=64.2465;MQ=56;MQ0=0;MQRankSum=1.787;QD=21.01;ReadPosRankSum=1.143;SB=-581.50;TI=NM_152463,NM_001166131;GI=EME1,EME1;FC=1AA_Insertion,1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,24:60:99:1300,0,1825:56:99:0.400 chr17 48455985 rs2189712 A T 1778.84 PASS BaseQRankSum=1.120;DP=152;Dels=0.00;FS=3.866;HRun=0;HaplotypeScore=1.8888;MQ=51;MQ0=0;MQRankSum=1.588;QD=11.70;ReadPosRankSum=-0.427;SB=-971.04;TI=NM_152463,NM_001166131;GI=EME1,EME1;FC=Synonymous_T311T,Synonymous_T311T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,77:152:99:1809,0,1758:51:99:0.507 chr17 48456193 rs12450550 T C 1019.35 PASS BaseQRankSum=1.301;DP=84;Dels=0.00;FS=1.784;HRun=1;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=0.574;QD=12.14;ReadPosRankSum=0.529;SB=-475.85;TI=NM_152463,NM_001166131;GI=EME1,EME1;FC=Missense_I350T,Missense_I350T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,39:84:99:1049,0,1265:56:99:0.464 chr17 48638448 . C A 302.18 PASS BaseQRankSum=0.376;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8940;MQ=58;MQ0=0;MQRankSum=0.020;QD=9.75;ReadPosRankSum=-0.494;SB=-149.64 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,15:31:99:332,0,371:58:99:0.484 chr17 48653354 rs12449998 C A 356.68 PASS BaseQRankSum=-1.609;DP=33;Dels=0.00;FS=5.222;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=-0.054;QD=10.81;ReadPosRankSum=-1.500;SB=-205.83;TI=NM_198397,NM_198379,NM_198388,NM_198380,NM_018896,NM_198377,NM_198384,NM_198387,NM_198378,NM_198386,NM_198376,NM_198385,NM_198382,NM_198383,NM_198396;GI=CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G;FC=Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R,Synonymous_R531R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,15:33:99:387,0,511:59:99:0.455 chr17 48703986 rs9893223 G A 1812.92 PASS BaseQRankSum=1.083;DP=126;Dels=0.00;FS=2.356;HRun=0;HaplotypeScore=9.1794;MQ=53;MQ0=0;MQRankSum=0.456;QD=14.39;ReadPosRankSum=0.750;SB=-875.22;TI=NM_198379,NM_198388,NM_198380,NM_018896,NM_198377,NM_198384,NM_198387,NM_198378,NM_198386,NM_198376,NM_198385,NM_198382,NM_198383,NM_198396;GI=CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G,CACNA1G;FC=Synonymous_P2257P,Synonymous_P2202P,Synonymous_P2280P,Synonymous_P2336P,Synonymous_P2313P,Synonymous_P2243P,Synonymous_P2209P,Synonymous_P2232P,Synonymous_P2225P,Synonymous_P2130P,Synonymous_P2291P,Synonymous_P2220P,Synonymous_P2265P,Synonymous_P2302P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,69:126:99:1843,0,1571:53:99:0.548 chr17 48761363 rs11568589 G A 1423.90 PASS BaseQRankSum=-0.545;DP=129;Dels=0.00;FS=0.658;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=1.776;QD=11.04;ReadPosRankSum=0.196;SB=-979.13;TI=NM_003786;GI=ABCC3;FC=Synonymous_L1336L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,61:129:99:1454,0,1847:56:99:0.473 chr17 56636854 rs7225128 T C 1453.09 PASS BaseQRankSum=-1.974;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=-0.838;QD=12.42;ReadPosRankSum=-1.980;SB=-728.12;TI=NM_198393,NM_031272;GI=TEX14,TEX14;FC=Synonymous_E1449E,Synonymous_E1409E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,62:117:99:1483,0,1380:55:99:0.530 chr17 56636908 rs9903050 T C 1569.12 PASS BaseQRankSum=-0.341;DP=127;Dels=0.00;FS=3.182;HRun=1;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-0.370;QD=12.36;ReadPosRankSum=0.766;SB=-970.17;TI=NM_198393,NM_031272;GI=TEX14,TEX14;FC=Synonymous_K1431K,Synonymous_K1391K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,68:127:99:1599,0,1429:56:99:0.535 chr17 56659018 rs6503870 C T 3428.74 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=29.56;SB=-1703.39;TI=NM_198393,NM_031272;GI=TEX14,TEX14;FC=Missense_G1082D,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3429,250,0:53:99:1.000 chr17 56676368 rs389389 T C 1173.39 PASS BaseQRankSum=-0.403;DP=87;Dels=0.00;FS=2.937;HRun=0;HaplotypeScore=3.6796;MQ=58;MQ0=0;MQRankSum=0.819;QD=13.49;ReadPosRankSum=-0.836;SB=-497.30;TI=NM_198393,NM_031272;GI=TEX14,TEX14;FC=Missense_N780D,Missense_N780D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,43:87:99:1203,0,1278:58:99:0.494 chr17 56676443 rs55927508 A G 1799.32 PASS BaseQRankSum=2.231;DP=133;Dels=0.00;FS=0.656;HRun=0;HaplotypeScore=4.4430;MQ=57;MQ0=0;MQRankSum=-0.387;QD=13.53;ReadPosRankSum=2.942;SB=-1197.56;TI=NM_198393,NM_031272;GI=TEX14,TEX14;FC=Synonymous_L755L,Synonymous_L755L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,74:133:99:1829,0,1589:57:99:0.556 chr17 56690848 rs8077548 T C 590.76 PASS BaseQRankSum=1.220;DP=54;Dels=0.00;FS=1.067;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=0.043;QD=10.94;ReadPosRankSum=0.286;SB=-417.06;TI=NM_198393,NM_031272;GI=TEX14,TEX14;FC=Synonymous_L313L,Synonymous_L313L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,28:54:99:621,0,607:51:99:0.519 chr17 56798128 rs28363317 A G 1189.39 PASS BaseQRankSum=1.601;DP=104;Dels=0.00;FS=0.738;HRun=1;HaplotypeScore=1.9892;MQ=55;MQ0=0;MQRankSum=0.703;QD=11.44;ReadPosRankSum=0.981;SB=-697.92;TI=NM_058216;GI=RAD51C;FC=Missense_T287A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,49:104:99:1219,0,1275:55:99:0.476 chr17 59477717 . G C 5.45 LowGQX;LowGQ;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=0.804;QD=2.73;ReadPosRankSum=0.804;SB=-0.01;TI=NM_005994;GI=TBX2;FC=Synonymous_A60A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:29.23:34,0,29:50:5:0.500 chr17 59485555 rs1057987 C T 1662.42 PASS BaseQRankSum=1.900;DP=154;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.8240;MQ=56;MQ0=0;MQRankSum=2.739;QD=10.79;ReadPosRankSum=0.342;SB=-874.44;TI=NM_005994;GI=TBX2;FC=Synonymous_S609S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,69:154:99:1692,0,2173:56:99:0.448 chr17 59760996 rs4986763 A G 2581.67 PASS BaseQRankSum=1.227;DP=204;Dels=0.00;FS=3.171;HRun=0;HaplotypeScore=8.1743;MQ=56;MQ0=0;MQRankSum=-0.553;QD=12.66;ReadPosRankSum=0.062;SB=-1549.28;TI=NM_032043;GI=BRIP1;FC=Synonymous_Y1137Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,105:204:99:2612,0,2580:56:99:0.515 chr17 59763347 rs4986764 A G 1455.62 PASS BaseQRankSum=-0.401;DP=132;Dels=0.00;FS=1.412;HRun=2;HaplotypeScore=2.6548;MQ=51;MQ0=0;MQRankSum=1.900;QD=11.03;ReadPosRankSum=0.122;SB=-760.87;TI=NM_032043;GI=BRIP1;FC=Missense_S919P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,58:132:99:1486,0,1795:51:99:0.439 chr17 59763465 rs4986765 T C 1531.67 PASS DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;QD=26.41;SB=-874.73;TI=NM_032043;GI=BRIP1;FC=Synonymous_E879E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1565,111,0:54:99:1.000 chr17 60043884 rs671347 G A 6856.85 PASS DP=253;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0283;MQ=55;MQ0=0;QD=27.10;SB=-4850.23;TI=NM_005121;GI=MED13;FC=Synonymous_D1440D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,252:253:99:6857,488,0:55:99:1.000 chr17 61559923 rs4309 C T 2650.55 PASS BaseQRankSum=2.167;DP=258;Dels=0.00;FS=0.464;HRun=0;HaplotypeScore=7.5111;MQ=54;MQ0=0;MQRankSum=0.726;QD=10.27;ReadPosRankSum=0.359;SB=-1549.35;TI=NM_000789;GI=ACE;FC=Synonymous_P405P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,117:258:99:2681,0,3264:54:99:0.453 chr17 61562309 rs4316 C T 986.24 PASS BaseQRankSum=1.235;DP=83;Dels=0.00;FS=4.669;HRun=0;HaplotypeScore=1.8924;MQ=52;MQ0=0;MQRankSum=-0.843;QD=11.88;ReadPosRankSum=0.961;SB=-353.24;TI=NM_000789,NM_001178057,NM_152830;GI=ACE,ACE,ACE;FC=Silent,Synonymous_P27P,Synonymous_P27P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,43:83:99:1016,0,1027:52:99:0.518 chr17 61564052 rs4331 A G 1487.40 PASS BaseQRankSum=0.068;DP=124;Dels=0.00;FS=0.678;HRun=0;HaplotypeScore=10.3600;MQ=55;MQ0=0;MQRankSum=0.458;QD=12.00;ReadPosRankSum=-1.152;SB=-843.58;TI=NM_000789,NM_001178057,NM_152830;GI=ACE,ACE,ACE;FC=Synonymous_A731A,Synonymous_A157A,Synonymous_A157A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,59:124:99:1517,0,1554:55:99:0.480 chr17 61565998 rs4342 A C 219.47 SB BaseQRankSum=-0.039;DP=20;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.7880;MQ=56;MQ0=0;MQRankSum=-0.193;QD=10.97;ReadPosRankSum=-0.810;SB=-0.01;TI=NM_000789,NM_001178057,NM_152830;GI=ACE,ACE,ACE;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,8:20:99:249,0,356:56:99:0.400 chr17 61566031 rs4343 G A 410.59 PASS BaseQRankSum=-0.348;DP=35;Dels=0.00;FS=3.703;HRun=0;HaplotypeScore=6.3643;MQ=55;MQ0=0;MQRankSum=-0.083;QD=11.73;ReadPosRankSum=0.083;SB=-58.95;TI=NM_000789,NM_001178057,NM_152830;GI=ACE,ACE,ACE;FC=Synonymous_T776T,Synonymous_T202T,Synonymous_T202T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,16:35:99:441,0,513:55:99:0.457 chr17 61573761 rs4362 T C 1426.77 PASS BaseQRankSum=4.204;DP=150;Dels=0.00;FS=1.304;HRun=0;HaplotypeScore=10.9566;MQ=52;MQ0=0;MQRankSum=-2.101;QD=9.51;ReadPosRankSum=-2.131;SB=-946.01;TI=NM_000789,NM_001178057,NM_152830;GI=ACE,ACE,ACE;FC=Synonymous_F1129F,Silent,Synonymous_F555F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,68:150:99:1457,0,1898:52:99:0.453 chr17 61574492 rs4363 G A 2096.48 PASS BaseQRankSum=1.650;DP=177;Dels=0.00;FS=6.867;HRun=0;HaplotypeScore=12.4723;MQ=55;MQ0=0;MQRankSum=0.157;QD=11.84;ReadPosRankSum=0.447;SB=-693.28;TI=NM_000789,NM_001178057,NM_152830;GI=ACE,ACE,ACE;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,76:177:99:2126,0,2550:55:99:0.432 chr17 61973513 rs2003779 G C 936.58 SB DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=27;MQ0=4;QD=26.76;SB=-0.01;TI=NM_001317,NM_022640,NM_022641;GI=CSH1,CSH1,CSH1;FC=Synonymous_P31P,Synonymous_P31P,Synonymous_P31P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,30:35:87.24:970,87,0:27:87:0.938 chr17 62007498 rs2070776 A G 1869.03 PASS BaseQRankSum=2.590;DP=120;Dels=0.00;FS=0.763;HRun=1;HaplotypeScore=9.1379;MQ=56;MQ0=0;MQRankSum=1.956;QD=15.58;ReadPosRankSum=2.063;SB=-701.08;TI=NM_001039933,NM_021602,NM_000626;GI=CD79B,CD79B,CD79B;FC=Synonymous_C123C,Silent,Synonymous_C122C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,70:120:99:1899,0,1412:56:99:0.583 chr17 62025424 . C A 12.42 LowVariantFreq;SB BaseQRankSum=-0.063;DP=20;Dels=0.00;FS=2.762;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-0.189;QD=0.62;ReadPosRankSum=1.575;SB=-0.01;TI=NM_000334;GI=SCN4A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,2:20:42.16:42,0,427:58:12:0.100 chr17 62038546 . T C 258.45 SB BaseQRankSum=-1.216;DP=20;Dels=0.00;FS=17.433;HRun=4;HaplotypeScore=20.6403;MQ=37;MQ0=0;MQRankSum=-0.836;QD=12.92;ReadPosRankSum=1.899;SB=-0.01;TI=NM_000334;GI=SCN4A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,11:20:99:288,0,197:37:99:0.550 chr17 62038550 . T C 29.33 LowVariantFreq;SB BaseQRankSum=-1.952;DP=27;Dels=0.00;FS=5.935;HRun=3;HaplotypeScore=16.8564;MQ=39;MQ0=0;MQRankSum=-2.602;QD=1.09;ReadPosRankSum=2.407;SB=-0.01;TI=NM_000334;GI=SCN4A;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,5:27:59.32:59,0,480:39:29:0.192 chr17 62041068 rs6504191 T C 4868.27 PASS DP=188;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.2630;MQ=53;MQ0=0;QD=25.90;SB=-3445.67;TI=NM_000334;GI=SCN4A;FC=Missense_S524G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,188:188:99:4868,346,0:53:99:1.000 chr17 63533768 rs1133683 G A 1315.47 PASS BaseQRankSum=2.074;DP=110;Dels=0.00;FS=0.717;HRun=0;HaplotypeScore=15.0255;MQ=54;MQ0=0;MQRankSum=1.187;QD=11.96;ReadPosRankSum=1.780;SB=-735.83;TI=NM_004655;GI=AXIN2;FC=Synonymous_P462P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,51:110:99:1345,0,1622:54:99:0.464 chr17 63533789 rs9915936 T C 4171.63 PASS DP=134;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7608;MQ=54;MQ0=0;QD=31.13;SB=-2376.15;TI=NM_004655;GI=AXIN2;FC=Synonymous_P455P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:134:99:4172,310,0:54:99:1.000 chr17 66531810 . A AT 960.95 R8 BaseQRankSum=-0.344;DP=126;FS=0.000;HRun=13;HaplotypeScore=303.7528;MQ=55;MQ0=0;MQRankSum=0.151;QD=7.63;ReadPosRankSum=1.783;SB=-453.52;TI=NR_027751,NM_017565;GI=FAM20A,FAM20A;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,45:126:99:1000,0,993:55:99:0.437 chr17 66533655 rs2907373 A G 1477.97 PASS BaseQRankSum=0.341;DP=112;Dels=0.00;FS=3.570;HRun=0;HaplotypeScore=8.1232;MQ=54;MQ0=0;MQRankSum=0.680;QD=13.20;ReadPosRankSum=0.861;SB=-853.57;TI=NR_027751,NM_017565;GI=FAM20A,FAM20A;FC=Silent,Missense_L530S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,60:112:99:1508,0,1360:54:99:0.536 chr17 66538239 rs2302234 G T 2040.06 PASS BaseQRankSum=-1.172;DP=145;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=52;MQ0=0;MQRankSum=1.346;QD=14.07;ReadPosRankSum=-0.434;SB=-1457.95;TI=NR_027751,NM_017565;GI=FAM20A,FAM20A;FC=Silent,Missense_N332K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,87:145:99:2070,0,1350:52:99:0.600 chr17 66596463 rs986099 C T 564.05 PASS BaseQRankSum=-1.213;DP=38;Dels=0.00;FS=7.684;HRun=0;HaplotypeScore=3.6639;MQ=58;MQ0=0;MQRankSum=-0.775;QD=14.84;ReadPosRankSum=-0.395;SB=-111.35;TI=NM_017565;GI=FAM20A;FC=Synonymous_S115S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,20:38:99:594,0,425:58:99:0.526 chr17 66596769 rs2907388 C T 756.76 PASS BaseQRankSum=-0.204;DP=62;Dels=0.00;FS=0.988;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=0.289;QD=12.21;ReadPosRankSum=-0.331;SB=-470.83;TI=NM_017565;GI=FAM20A;FC=Synonymous_L13L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,32:62:99:787,0,770:52:99:0.516 chr17 70118935 rs2229989 C T 1627.27 PASS BaseQRankSum=0.477;DP=146;Dels=0.00;FS=0.641;HRun=0;HaplotypeScore=18.3184;MQ=54;MQ0=0;MQRankSum=1.380;QD=11.15;ReadPosRankSum=1.019;SB=-790.64;TI=NM_000346;GI=SOX9;FC=Synonymous_H169H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,69:146:99:1657,0,1802:54:99:0.476 chr17 71192663 rs1052706 G A 1591.09 PASS DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=57;MQ0=0;QD=24.86;SB=-993.19;TI=NM_018714;GI=COG1;FC=Synonymous_Q111Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1624,114,0:57:99:1.000 chr17 71192873 rs11544800 A G 627.76 PASS DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.53;SB=-338.78;TI=NM_018714;GI=COG1;FC=Synonymous_A181A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,22:22:48.15:661,48,0:57:48:1.000 chr17 71196809 rs1026128 A G 7718.13 PASS DP=278;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1495;MQ=54;MQ0=0;QD=27.76;SB=-5196.08;TI=NM_018714;GI=COG1;FC=Missense_N392S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,278:278:99:7718,554,0:54:99:1.000 chr17 71197748 rs1037256 G A 758.68 PASS DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4704;MQ=58;MQ0=0;QD=31.61;SB=-383.94;TI=NM_018714;GI=COG1;FC=Synonymous_E594E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,24:24:60.18:792,60,0:58:60:1.000 chr17 72297180 rs8076337 A G 731.54 PASS BaseQRankSum=1.370;DP=74;Dels=0.00;FS=0.919;HRun=0;HaplotypeScore=3.5443;MQ=53;MQ0=0;MQRankSum=0.457;QD=9.89;ReadPosRankSum=-2.338;SB=-389.16;TI=NM_023036,NM_001172810;GI=DNAI2,DNAI2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,33:74:99:762,0,1030:53:99:0.446 chr17 72301432 rs8073660 A G 1285.92 PASS BaseQRankSum=0.624;DP=108;Dels=0.00;FS=2.490;HRun=0;HaplotypeScore=7.4340;MQ=52;MQ0=0;MQRankSum=1.227;QD=11.91;ReadPosRankSum=-0.507;SB=-869.60;TI=NM_023036,NM_001172810;GI=DNAI2,DNAI2;FC=Synonymous_E354E,Synonymous_E354E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,56:108:99:1316,0,1222:52:99:0.519 chr17 72305534 rs2290955 C T 767.50 PASS BaseQRankSum=0.581;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8935;MQ=52;MQ0=0;MQRankSum=0.236;QD=10.81;ReadPosRankSum=0.351;SB=-518.34;TI=NM_023036,NM_001172810;GI=DNAI2,DNAI2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,37:71:99:797,0,858:52:99:0.521 chr17 72308319 rs1979370 G A 3105.07 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4501;MQ=54;MQ0=0;QD=29.29;SB=-1433.92;TI=NM_023036,NM_001172810;GI=DNAI2,DNAI2;FC=Missense_A558T,Missense_A546T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:3138,229,0:54:99:1.000 chr17 73269530 rs1809352 A G 1873.11 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=57;MQ0=0;QD=29.27;SB=-1062.01;TI=NR_036520,NM_021734,NM_001126121,NM_001126122;GI=LOC100287042,SLC25A19,SLC25A19,SLC25A19;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1906,138,0:57:99:1.000 chr17 73269676 rs4789164 C T 720.41 PASS BaseQRankSum=-0.036;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=52;MQ0=0;MQRankSum=1.580;QD=11.81;ReadPosRankSum=0.065;SB=-338.78;TI=NR_036520,NM_021734,NM_001126121,NM_001126122;GI=LOC100287042,SLC25A19,SLC25A19,SLC25A19;FC=Silent,Synonymous_L273L,Synonymous_L273L,Synonymous_L273L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,30:61:99:750,0,766:52:99:0.492 chr17 73279624 rs7213318 A G 805.93 PASS BaseQRankSum=0.607;DP=95;Dels=0.00;FS=2.674;HRun=0;HaplotypeScore=2.7605;MQ=54;MQ0=0;MQRankSum=0.991;QD=8.48;ReadPosRankSum=-0.094;SB=-548.92;TI=NM_021734,NM_001126121,NM_001126122;GI=SLC25A19,SLC25A19,SLC25A19;FC=Synonymous_Y113Y,Synonymous_Y113Y,Synonymous_Y113Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,40:95:99:836,0,1223:54:99:0.421 chr17 73518203 rs9911502 G C 1853.67 PASS DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9998;MQ=60;MQ0=0;QD=37.07;SB=-402.98;TI=NM_207346;GI=TSEN54;FC=Missense_K347N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:50:99:1887,141,0:60:99:1.000 chr17 73518284 rs6501820 G C 1616.90 PASS DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6986;MQ=57;MQ0=0;QD=32.34;SB=-624.99;TI=NM_207346;GI=TSEN54;FC=Synonymous_R374R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:50:99:1650,126,0:57:99:1.000 chr17 73519413 rs8064529 C T 2452.26 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.55;SB=-1298.72;TI=NM_207346;GI=TSEN54;FC=Missense_A437V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2485,184,0:56:99:1.000 chr17 73753503 rs871443 T C 3285.79 PASS DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8661;MQ=59;MQ0=0;QD=36.11;SB=-1543.74;TI=NM_000213,NM_001005731,NM_001005619;GI=ITGB4,ITGB4,ITGB4;FC=Missense_L1779P,Missense_L1709P,Missense_L1762P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:3286,247,0:59:99:1.000 chr17 73949540 rs1135640 G C 626.17 LowDP DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=32.96;SB=-108.66;TI=NM_004035,NM_007292,NM_001185039;GI=ACOX1,ACOX1,ACOX1;FC=Missense_I312M,Missense_I312M,Missense_I274M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:19:48.16:659,48,0:60:48:1.000 chr17 74475024 rs3744045 G A 899.16 PASS DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59;MQ0=0;QD=34.58;SB=-333.16;TI=NM_001005498,NM_024599;GI=RHBDF2,RHBDF2;FC=Missense_P179L,Missense_P208L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,26:26:72.22:932,72,0:59:72:1.000 chr17 74475975 rs67160445 C A 5299.81 PASS DP=190;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.2258;MQ=53;MQ0=0;QD=27.89;SB=-2642.05;TI=NM_001005498,NM_024599;GI=RHBDF2,RHBDF2;FC=Silent,Missense_A67S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,189:190:99:5300,388,0:53:99:1.000 chr17 74540492 rs2278639 C T 2556.78 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7356;MQ=55;MQ0=0;QD=28.73;SB=-1512.12;TI=NR_033357,NM_001077620;GI=PRCD,PRCD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:89:99:2590,193,0:55:99:1.000 chr17 74540917 rs895157 A C 4960.40 PASS DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4363;MQ=57;MQ0=0;QD=31.20;SB=-1890.71;TI=NR_033357,NM_001077620;GI=PRCD,PRCD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,158:159:99:4960,364,0:57:99:1.000 chr17 74541137 rs4648339 C T 967.14 PASS BaseQRankSum=-0.495;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-1.609;QD=34.54;ReadPosRankSum=-0.124;SB=-496.99;TI=NR_033357,NM_001077620;GI=PRCD,PRCD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,27:28:43.62:1000,44,0:57:44:0.964 chr17 74541171 rs5742903 T C 958.79 PASS DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5584;MQ=58;MQ0=0;QD=33.06;SB=-382.12;TI=NR_033357,NM_001077620;GI=PRCD,PRCD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:75.24:992,75,0:58:75:1.000 chr17 75369578 rs7217986 T C 729.63 PASS BaseQRankSum=-0.168;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2794;MQ=50;MQ0=0;MQRankSum=1.451;QD=11.96;ReadPosRankSum=-1.247;SB=-546.94;TI=NM_001113491,NM_001113492,NM_006640,NM_001113493;GI=SEPT9,SEPT9,SEPT9,SEPT9;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,35:61:99:760,0,542:50:99:0.574 chr17 75494705 rs2627223 A G 1258.53 PASS DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5293;MQ=42;MQ0=0;QD=25.68;SB=-849.40;TI=NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495;GI=SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9;FC=Missense_M576V,Missense_M412V,Missense_M558V,Missense_M569V,Missense_M412V,Missense_M325V,Missense_M464V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1292,99,0:42:99:1.000 chr17 75494746 rs1059485 A G 307.30 PASS BaseQRankSum=-0.811;DP=25;Dels=0.00;FS=1.760;HRun=0;HaplotypeScore=4.5439;MQ=46;MQ0=0;MQRankSum=0.637;QD=12.29;ReadPosRankSum=0.927;SB=-92.35;TI=NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495;GI=SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9,SEPT9;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,13:25:99:337,0,270:46:99:0.542 chr17 76130575 rs7208422 A T 2257.52 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=27.20;SB=-1384.17;TI=NM_152468;GI=TMC8;FC=Missense_N306I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2291,166,0:55:99:1.000 chr17 76131070 rs12452890 G A 1437.45 PASS BaseQRankSum=0.740;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6358;MQ=52;MQ0=0;MQRankSum=2.104;QD=10.73;ReadPosRankSum=0.428;SB=-790.30;TI=NM_152468;GI=TMC8;FC=Synonymous_E369E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,59:134:99:1467,0,1763:52:99:0.444 chr17 76137198 rs369764 T G 11.01 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=11.01;SB=-0.01;TI=NM_152468;GI=TMC8;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:41,3,0:60:3:1.000 chr17 76219591 rs2071214 G A 5666.41 PASS DP=172;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58;MQ0=0;QD=32.94;SB=-2418.07;TI=NM_001012271,NM_001012270,NM_001168,NR_002219;GI=BIRC5,BIRC5,BIRC5,EPR1;FC=Missense_E152K,Synonymous_R89R,Missense_E129K,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,172:172:99:5666,418,0:58:99:1.000 chr17 77758484 rs3751956 G A 2450.48 PASS BaseQRankSum=0.725;DP=191;Dels=0.00;FS=0.550;HRun=0;HaplotypeScore=6.2740;MQ=55;MQ0=0;MQRankSum=1.017;QD=12.83;ReadPosRankSum=0.914;SB=-1184.93;TI=NM_005189;GI=CBX2;FC=Synonymous_L414L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,96:191:99:2480,0,2513:55:99:0.508 chr17 77758691 rs3751957 G A 2664.49 PASS BaseQRankSum=1.296;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4087;MQ=52;MQ0=0;MQRankSum=0.368;QD=15.40;ReadPosRankSum=0.284;SB=-1726.68;TI=NM_005189;GI=CBX2;FC=Synonymous_P483P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,108:173:99:2694,0,1619:52:99:0.624 chr17 78013724 rs2289527 G C 1012.62 PASS DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=28.93;SB=-428.88;TI=NM_017950;GI=CCDC40;FC=Synonymous_V69V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:35:75.25:1046,75,0:59:75:1.000 chr17 78055757 rs61749058 C T 1562.55 PASS BaseQRankSum=0.257;DP=111;Dels=0.00;FS=6.091;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.639;QD=14.08;ReadPosRankSum=1.177;SB=-1115.90;TI=NM_017950;GI=CCDC40;FC=Missense_A630V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,68:111:99:1593,0,976:54:99:0.613 chr17 78055758 rs35578653 T G 1557.62 PASS BaseQRankSum=1.214;DP=111;Dels=0.00;FS=6.091;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=-0.209;QD=14.03;ReadPosRankSum=1.147;SB=-1111.18;TI=NM_017950;GI=CCDC40;FC=Synonymous_A630A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,68:111:99:1588,0,973:54:99:0.613 chr17 78071052 rs12952612 T C 2387.09 PASS BaseQRankSum=0.539;DP=90;Dels=0.00;FS=3.696;HRun=0;HaplotypeScore=5.6169;MQ=54;MQ0=0;MQRankSum=1.540;QD=26.52;ReadPosRankSum=-1.347;SB=-1398.70;TI=NM_017950;GI=CCDC40;FC=Synonymous_D1010D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,89:90:99:2420,147,0:54:99:0.989 chr17 78073562 rs2304854 A G 1334.07 PASS DP=44;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.5938;MQ=57;MQ0=0;QD=30.32;SB=-415.88;TI=NM_017950;GI=CCDC40;FC=Synonymous_P1139P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:99:1367,102,0:57:99:1.000 chr17 78078709 rs1800300 T C 7957.33 PASS DP=299;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.4396;MQ=54;MQ0=0;QD=26.61;SB=-5069.19;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_C108C,Synonymous_C108C,Synonymous_C108C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,299:299:99:7957,572,0:54:99:1.000 chr17 78079544 rs3816256 C G 3546.25 PASS DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=26.87;SB=-2206.20;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,132:132:99:3546,253,0:55:99:1.000 chr17 78079597 rs1042393 A G 3526.65 PASS DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3095;MQ=55;MQ0=0;QD=26.92;SB=-2349.63;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Missense_H199R,Missense_H199R,Missense_H199R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3527,250,0:55:99:1.000 chr17 78079643 rs1800301 C T 2637.31 PASS DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8675;MQ=55;MQ0=0;QD=27.76;SB=-1405.76;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_S214S,Synonymous_S214S,Synonymous_S214S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:2670,196,0:55:99:1.000 chr17 78079669 rs1042395 G A 2090.08 PASS BaseQRankSum=0.912;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=0.638;QD=27.50;ReadPosRankSum=1.595;SB=-1098.20;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Missense_R223H,Missense_R223H,Missense_R223H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,75:76:99:2123,125,0:56:99:0.987 chr17 78081526 rs3071247 A AGCAGCGG 6855.94 PASS BaseQRankSum=-0.883;DP=119;FS=3.751;HRun=0;HaplotypeScore=243.9668;MQ=47;MQ0=2;MQRankSum=0.781;QD=57.61;ReadPosRankSum=0.713;SB=-2944.36;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:19,63:117:99:6856,268,0:47:99:0.768 chr17 78082504 rs1800304 G A 4468.28 PASS DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5674;MQ=55;MQ0=0;QD=29.40;SB=-2413.23;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_Q401Q,Synonymous_Q401Q,Synonymous_Q401Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,151:152:99:4468,325,0:55:99:1.000 chr17 78087109 rs1800310 A G 2117.79 PASS DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6464;MQ=55;MQ0=0;QD=27.87;SB=-1108.56;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_T711T,Synonymous_T711T,Synonymous_T711T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,76:76:99:2151,157,0:55:99:1.000 chr17 78091405 rs1126690 G A 1931.60 PASS BaseQRankSum=0.481;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8675;MQ=56;MQ0=0;MQRankSum=1.492;QD=26.83;ReadPosRankSum=-0.674;SB=-1177.32;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Missense_V780I,Missense_V780I,Missense_V780I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,71:72:99:1965,110,0:56:99:0.986 chr17 78092063 rs1042397 G A 2867.52 PASS BaseQRankSum=-0.511;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=54;MQ0=0;MQRankSum=2.109;QD=30.18;ReadPosRankSum=2.162;SB=-1318.44;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_G851G,Synonymous_G851G,Synonymous_G851G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,92:95:99:2901,178,0:54:99:0.979 chr17 78157995 rs4889990 G A 2983.02 PASS BaseQRankSum=2.444;DP=261;Dels=0.00;FS=8.821;HRun=2;HaplotypeScore=5.4089;MQ=51;MQ0=0;MQRankSum=-0.132;QD=11.43;ReadPosRankSum=2.155;SB=-2021.86;TI=NM_024110;GI=CARD14;FC=Synonymous_E211E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:124,137:261:99:3013,0,3064:51:99:0.525 chr17 78171944 rs2066964 G C 1632.80 PASS BaseQRankSum=2.086;DP=125;Dels=0.00;FS=2.313;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=1.607;QD=13.06;ReadPosRankSum=-0.581;SB=-1123.05;TI=NM_024110,NM_052819;GI=CARD14,CARD14;FC=Missense_R547S,Missense_R310S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,71:125:99:1663,0,1371:54:99:0.568 chr17 78172292 rs34367357 G A 2269.42 PASS BaseQRankSum=2.884;DP=216;Dels=0.00;FS=0.511;HRun=0;HaplotypeScore=11.1993;MQ=56;MQ0=0;MQRankSum=0.884;QD=10.51;ReadPosRankSum=0.519;SB=-1295.87;TI=NM_024110,NM_052819;GI=CARD14,CARD14;FC=Missense_V585I,Missense_V348I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,94:216:99:2299,0,2929:56:99:0.435 chr17 78177695 rs9905662 A C 905.55 PASS BaseQRankSum=-0.439;DP=79;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7601;MQ=53;MQ0=0;MQRankSum=-0.429;QD=11.46;ReadPosRankSum=-0.607;SB=-694.14;TI=NM_024110;GI=CARD14;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,44:79:99:936,0,819:53:99:0.557 chr17 78184393 rs7503034 C T 233.17 PASS BaseQRankSum=-1.595;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=1.140;QD=11.66;ReadPosRankSum=-0.152;SB=-17.67;TI=NM_000199;GI=SGSH;FC=Missense_R456H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,9:20:99:263,0,326:57:99:0.450 chr17 78261730 rs17853714 G A 1455.41 PASS BaseQRankSum=-0.964;DP=97;Dels=0.00;FS=2.779;HRun=0;HaplotypeScore=8.2654;MQ=52;MQ0=0;MQRankSum=0.427;QD=15.00;ReadPosRankSum=-2.068;SB=-977.41;TI=NM_020954,NM_020914;GI=RNF213,RNF213;FC=Synonymous_P126P,Synonymous_P175P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,63:97:99:1485,0,816:52:99:0.649 chr17 78261805 rs7215243 A G 992.29 PASS BaseQRankSum=0.540;DP=65;Dels=0.00;FS=1.037;HRun=2;HaplotypeScore=7.8898;MQ=53;MQ0=0;MQRankSum=-0.947;QD=15.27;ReadPosRankSum=0.736;SB=-630.96;TI=NM_020954,NM_020914;GI=RNF213,RNF213;FC=Synonymous_P151P,Synonymous_P200P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,44:65:99:1022,0,502:53:99:0.677 chr17 78262161 rs17857135 T C 857.11 PASS BaseQRankSum=2.185;DP=80;Dels=0.00;FS=2.000;HRun=0;HaplotypeScore=6.3631;MQ=53;MQ0=0;MQRankSum=2.253;QD=10.71;ReadPosRankSum=0.521;SB=-400.14;TI=NM_020954,NM_020914;GI=RNF213,RNF213;FC=Missense_M270T,Missense_M319T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,34:80:99:887,0,1240:53:99:0.425 chr17 78263486 rs17853989 T C 285.05 PASS BaseQRankSum=0.304;DP=21;Dels=0.00;FS=2.282;HRun=0;HaplotypeScore=4.3882;MQ=55;MQ0=0;MQRankSum=-0.380;QD=13.57;ReadPosRankSum=-1.595;SB=-102.05;TI=NM_020954,NM_020914;GI=RNF213,RNF213;FC=Missense_M321T,Missense_M370T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,11:21:99:315,0,277:55:99:0.550 chr17 78263514 rs17853713 G A 381.66 PASS BaseQRankSum=1.007;DP=35;Dels=0.00;FS=5.287;HRun=2;HaplotypeScore=5.3097;MQ=54;MQ0=0;MQRankSum=-1.304;QD=10.90;ReadPosRankSum=0.776;SB=-264.50;TI=NM_020954,NM_020914;GI=RNF213,RNF213;FC=Synonymous_K330K,Synonymous_K379K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,18:35:99:412,0,422:54:99:0.514 chr17 78272294 rs72849841 C T 1997.08 PASS BaseQRankSum=2.440;DP=176;Dels=0.00;FS=4.402;HRun=0;HaplotypeScore=4.5761;MQ=51;MQ0=0;MQRankSum=1.218;QD=11.35;ReadPosRankSum=1.552;SB=-1358.36;TI=NM_020954,NM_020914;GI=RNF213,RNF213;FC=Missense_P729L,Missense_P778L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,88:176:99:2027,0,1918:51:99:0.500 chr17 78298938 rs6565674 A G 1559.60 PASS DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;QD=26.43;SB=-1119.46;TI=NM_020914;GI=RNF213;FC=Missense_N1094D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1593,111,0:51:99:1.000 chr17 78302157 rs8082521 C A 1585.27 PASS DP=55;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=28.82;SB=-982.63;TI=NM_020914;GI=RNF213;FC=Missense_Q1182K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1618,117,0:58:99:1.000 chr17 78305871 rs10782008 G A 190.70 LowGQ;SB;LowDP DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=31.78;SB=-0.01;TI=NM_020914;GI=RNF213;FC=Missense_V1244M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,6:6:18.05:224,18,0:60:18:1.000 chr17 78306102 rs9913636 G C 1013.67 PASS DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=28.96;SB=-559.03;TI=NM_020914;GI=RNF213;FC=Missense_E1321Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,35:35:75.25:1047,75,0:58:75:1.000 chr17 78306280 rs8074015 A G 378.71 LowDP DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=29.13;SB=-120.66;TI=NM_020914;GI=RNF213;FC=Missense_D1380G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,13:13:30.10:412,30,0:54:30:1.000 chr17 78306308 rs9908287 C G 255.71 LowGQ;LowDP DP=9;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=28.41;SB=-40.01;TI=NM_020914;GI=RNF213;FC=Synonymous_V1389V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,9:9:21.07:289,21,0:56:21:1.000 chr17 78311508 rs4890009 G A 3791.70 PASS DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8268;MQ=55;MQ0=0;QD=27.48;SB=-2445.35;TI=NM_020914;GI=RNF213;FC=Synonymous_A1599A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:138:99:3792,274,0:55:99:1.000 chr17 78319136 rs9674961 G A 5053.22 PASS DP=165;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6820;MQ=55;MQ0=0;QD=30.63;SB=-2316.25;TI=NM_020914;GI=RNF213;FC=Missense_S2383N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,165:165:99:5053,370,0:55:99:1.000 chr17 78319380 rs4890012 G C 3483.62 PASS BaseQRankSum=1.570;DP=107;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=19.0685;MQ=56;MQ0=0;MQRankSum=-1.538;QD=32.56;ReadPosRankSum=1.603;SB=-1564.51;TI=NM_020914;GI=RNF213;FC=Synonymous_P2464P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,106:107:99:3484,262,0:56:99:0.991 chr17 78319610 . C T 5619.02 PASS BaseQRankSum=1.679;DP=435;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.2996;MQ=55;MQ0=0;MQRankSum=1.410;QD=12.92;ReadPosRankSum=-1.953;SB=-3614.00;TI=NM_020914;GI=RNF213;FC=Missense_T2541M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:210,225:435:99:5619,0,4954:55:99:0.517 chr17 78327358 rs7216493 G A 1358.38 PASS DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=27.72;SB=-707.45;TI=NM_020914,NR_029376;GI=RNF213,LOC100294362;FC=Synonymous_E3539E,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1391,99,0:53:99:1.000 chr17 78354661 rs4889848 C T 2125.35 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1489;MQ=54;MQ0=0;QD=27.60;SB=-1346.74;TI=NM_020914,NR_029376;GI=RNF213,LOC100294362;FC=Synonymous_H4606H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2158,157,0:54:99:1.000 chr17 78820329 rs3751945 C T 4088.09 PASS DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=28.19;SB=-2853.62;TI=NM_001163034,NM_020761;GI=RPTOR,RPTOR;FC=Synonymous_G423G,Synonymous_G423G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,145:145:99:4088,292,0:53:99:1.000 chr17 78896529 rs2271603 C T 4798.53 PASS DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5489;MQ=52;MQ0=0;QD=27.42;SB=-3352.27;TI=NM_001163034,NM_020761;GI=RPTOR,RPTOR;FC=Synonymous_T684T,Synonymous_T842T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,175:175:99:4799,346,0:52:99:1.000 chr17 78921117 rs4969231 C T 3133.21 PASS DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=29.56;SB=-1311.13;TI=NM_001163034,NM_020761;GI=RPTOR,RPTOR;FC=Synonymous_N919N,Synonymous_N1077N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:3166,229,0:53:99:1.000 chr17 79478019 rs1139405 G A 5292.87 PASS BaseQRankSum=-0.149;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2548;MQ=55;MQ0=0;MQRankSum=0.279;QD=28.30;ReadPosRankSum=-1.583;SB=-3143.19;TI=NR_037688,NM_001614,NM_001199954;GI=ACTG1,ACTG1,ACTG1;FC=Silent,Synonymous_Y306Y,Synonymous_Y306Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,185:187:99:5293,351,0:55:99:0.995 chr17 79479808 rs7503278 C T 1635.68 PASS DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1080;MQ=53;MQ0=0;QD=29.74;SB=-625.28;TI=NR_037688,NM_001614,NM_001199954;GI=ACTG1,ACTG1,ACTG1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1669,126,0:53:99:1.000 chr17 79617705 rs13372 G A 1238.43 PASS BaseQRankSum=1.449;DP=64;Dels=0.00;FS=2.280;HRun=0;HaplotypeScore=4.4704;MQ=55;MQ0=0;MQRankSum=2.790;QD=19.35;ReadPosRankSum=-0.296;SB=-549.25;TI=NM_002602,NR_026872;GI=PDE6G,PDE6G;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,41:64:99:1268,0,443:55:99:0.651 chr17 79617830 rs1126818 G A 636.96 PASS BaseQRankSum=1.094;DP=40;Dels=0.00;FS=9.999;HRun=1;HaplotypeScore=4.6440;MQ=57;MQ0=0;MQRankSum=1.778;QD=15.92;ReadPosRankSum=0.356;SB=-303.36;TI=NM_002602,NR_026872;GI=PDE6G,PDE6G;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,23:40:99:667,0,475:57:99:0.575 chr17 79770740 rs5384 C T 1680.63 PASS BaseQRankSum=0.899;DP=158;Dels=0.00;FS=2.029;HRun=2;HaplotypeScore=12.2923;MQ=52;MQ0=0;MQRankSum=0.683;QD=10.64;ReadPosRankSum=0.166;SB=-910.74;TI=NM_000160;GI=GCGR;FC=Synonymous_F365F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,72:158:99:1711,0,2191:52:99:0.456 chr17 79891147 rs61747618 T C 3515.11 PASS DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3853;MQ=52;MQ0=0;QD=27.25;SB=-2389.29;TI=NM_153824,NM_006907;GI=PYCR1,PYCR1;FC=Silent,Synonymous_S301S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3515,250,0:52:99:1.000 chr17 80039481 rs1140616 G A 690.33 PASS BaseQRankSum=1.053;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7595;MQ=55;MQ0=0;MQRankSum=0.693;QD=9.72;ReadPosRankSum=-0.087;SB=-417.85;TI=NM_004104;GI=FASN;FC=Synonymous_I2134I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,30:71:99:720,0,1078:55:99:0.423 chr17 80040967 . C A 13.49 LowDP BaseQRankSum=1.660;DP=16;Dels=0.00;FS=2.447;HRun=1;HaplotypeScore=2.7041;MQ=53;MQ0=0;MQRankSum=-0.938;QD=0.84;ReadPosRankSum=-0.072;SB=-15.94;TI=NM_004104;GI=FASN;FC=Missense_V1864L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,3:16:43.28:43,0,418:53:13:0.200 chr17 80043349 rs17848939 C T 1386.87 PASS BaseQRankSum=1.146;DP=90;Dels=0.00;FS=11.234;HRun=0;HaplotypeScore=12.6565;MQ=59;MQ0=0;MQRankSum=-0.056;QD=15.41;ReadPosRankSum=-0.137;SB=-652.91;TI=NM_004104;GI=FASN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,45:90:99:1417,0,1275:59:99:0.500 chr17 80043739 rs2229422 A G 67.88 SB;LowDP BaseQRankSum=1.920;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60;MQ0=0;MQRankSum=-0.684;QD=8.48;ReadPosRankSum=1.920;SB=-0.01;TI=NM_004104;GI=FASN;FC=Synonymous_A1247A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,3:8:97.87:98,0,150:60:68:0.375 chr17 80051183 rs2228309 A G 2177.88 PASS BaseQRankSum=1.833;DP=201;Dels=0.00;FS=1.106;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=2.676;QD=10.84;ReadPosRankSum=-0.362;SB=-1457.05;TI=NM_004104;GI=FASN;FC=Synonymous_N189N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,99:201:99:2208,0,2251:52:99:0.495 chr17 80195582 rs9303026 T C 5734.95 PASS DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.3711;MQ=56;MQ0=0;QD=30.34;SB=-2887.50;TI=NM_001042422,NM_004207,NM_001042423;GI=SLC16A3,SLC16A3,SLC16A3;FC=Synonymous_G312G,Synonymous_G312G,Synonymous_G312G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,188:189:99:5735,427,0:56:99:1.000 chr17 80696410 rs2253149 A C 1267.40 PASS DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=54;MQ0=0;QD=26.97;SB=-913.24;TI=NM_022158;GI=FN3K;FC=Synonymous_R63R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:93.30:1300,93,0:54:93:1.000 chr17 80708601 rs1056534 C G 432.23 SB BaseQRankSum=-0.852;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=57;MQ0=0;MQRankSum=-0.332;QD=11.08;ReadPosRankSum=-2.179;SB=-0.01;TI=NM_022158;GI=FN3K;FC=Synonymous_S300S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,15:39:99:462,0,794:57:99:0.385 chr17 80788465 rs12938126 T C 2386.68 PASS BaseQRankSum=-1.341;DP=208;Dels=0.00;FS=0.521;HRun=1;HaplotypeScore=6.0596;MQ=54;MQ0=0;MQRankSum=1.939;QD=11.47;ReadPosRankSum=-0.355;SB=-1277.58;TI=NM_005993,NM_024702;GI=TBCD,ZNF750;FC=Silent,Synonymous_A575A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,94:208:99:2417,0,3073:54:99:0.452 chr17 80788492 rs12948179 A G 2145.34 PASS BaseQRankSum=-0.810;DP=184;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=11.2105;MQ=54;MQ0=0;MQRankSum=3.230;QD=11.66;ReadPosRankSum=-0.671;SB=-1157.08;TI=NM_005993,NM_024702;GI=TBCD,ZNF750;FC=Silent,Synonymous_P566P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,84:184:99:2175,0,2752:54:99:0.457 chr18 657785 . C T 243.72 LowDP BaseQRankSum=-1.102;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9967;MQ=54;MQ0=0;MQRankSum=0.776;QD=12.83;ReadPosRankSum=-1.429;SB=-99.53;TI=NM_001012716,NM_001071;GI=C18orf56,TYMS;FC=Silent,Missense_P15S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,10:19:99:274,0,269:54:99:0.526 chr18 907675 rs8192597 G A 2783.06 PASS DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4596;MQ=53;MQ0=0;QD=27.56;SB=-1740.32;TI=NM_001099733,NM_001117;GI=ADCYAP1,ADCYAP1;FC=Synonymous_A42A,Synonymous_A42A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2816,205,0:53:99:1.000 chr18 909561 rs2231187 A G 2069.25 PASS BaseQRankSum=1.257;DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2640;MQ=55;MQ0=0;MQRankSum=-0.200;QD=10.72;ReadPosRankSum=0.107;SB=-1360.75;TI=NM_001099733,NM_001117;GI=ADCYAP1,ADCYAP1;FC=Synonymous_K152K,Synonymous_K152K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,90:193:99:2099,0,2466:55:99:0.466 chr18 3067278 rs2230164 A G 1033.81 PASS DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6522;MQ=58;MQ0=0;QD=29.54;SB=-412.41;TI=NM_003803,NM_019856;GI=MYOM1,MYOM1;FC=Synonymous_G1680G,Synonymous_G1584G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:35:78.24:1067,78,0:58:78:1.000 chr18 3075712 rs2298539 C A 3514.97 PASS DP=121;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=29.05;SB=-2327.78;TI=NM_003803,NM_019856;GI=MYOM1,MYOM1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3515,253,0:57:99:1.000 chr18 3126811 rs1071600 A G 1769.06 PASS BaseQRankSum=0.732;DP=157;Dels=0.00;FS=3.739;HRun=0;HaplotypeScore=1.8665;MQ=52;MQ0=0;MQRankSum=0.971;QD=11.27;ReadPosRankSum=-1.098;SB=-1159.63;TI=NM_003803,NM_019856;GI=MYOM1,MYOM1;FC=Missense_I960T,Missense_I864T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,81:157:99:1799,0,1947:52:99:0.516 chr18 3164385 rs11659820 C T 684.58 PASS BaseQRankSum=1.964;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=50;MQ0=0;MQRankSum=0.646;QD=10.22;ReadPosRankSum=0.483;SB=-490.98;TI=NM_003803,NM_019856;GI=MYOM1,MYOM1;FC=Synonymous_R464R,Synonymous_R464R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,32:67:99:715,0,862:50:99:0.478 chr18 3168816 rs2230167 G A 697.16 PASS BaseQRankSum=0.296;DP=45;Dels=0.00;FS=2.909;HRun=0;HaplotypeScore=2.7880;MQ=53;MQ0=0;MQRankSum=0.083;QD=15.49;ReadPosRankSum=0.865;SB=-394.84;TI=NM_003803,NM_019856;GI=MYOM1,MYOM1;FC=Synonymous_N446N,Synonymous_N446N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,29:45:99:727,0,385:53:99:0.644 chr18 3173964 rs2230163 G A 1987.86 PASS BaseQRankSum=1.184;DP=159;Dels=0.00;FS=5.202;HRun=0;HaplotypeScore=6.2312;MQ=54;MQ0=0;MQRankSum=1.291;QD=12.50;ReadPosRankSum=0.739;SB=-928.84;TI=NM_003803,NM_019856;GI=MYOM1,MYOM1;FC=Synonymous_H382H,Synonymous_H382H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,77:159:99:2018,0,2166:54:99:0.484 chr18 3176040 rs8099021 C G 3213.72 PASS DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.70;SB=-1591.25;TI=NM_003803,NM_019856;GI=MYOM1,MYOM1;FC=Unknown_341,Unknown_341;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3247,232,0:54:99:1.000 chr18 3176063 rs2230162 C T 1862.82 PASS BaseQRankSum=0.284;DP=144;Dels=0.00;FS=6.333;HRun=1;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=2.442;QD=12.94;ReadPosRankSum=0.116;SB=-860.15;TI=NM_003803,NM_019856;GI=MYOM1,MYOM1;FC=Synonymous_G333G,Synonymous_G333G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,73:144:99:1893,0,1585:52:99:0.507 chr18 3188976 rs1962519 A G 1489.55 PASS BaseQRankSum=1.585;DP=116;Dels=0.00;FS=0.719;HRun=1;HaplotypeScore=11.7559;MQ=49;MQ0=0;MQRankSum=-0.326;QD=12.84;ReadPosRankSum=-1.251;SB=-1073.68;TI=NM_003803,NM_019856;GI=MYOM1,MYOM1;FC=Missense_S181P,Missense_S181P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,67:116:99:1520,0,1027:49:99:0.583 chr18 3215030 rs9964300 C A 856.09 PASS BaseQRankSum=0.214;DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5461;MQ=56;MQ0=0;MQRankSum=-0.360;QD=11.26;ReadPosRankSum=-1.039;SB=-697.10;TI=NM_003803,NM_019856;GI=MYOM1,MYOM1;FC=Synonymous_A64A,Synonymous_A64A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,42:76:99:886,0,834:56:99:0.553 chr18 6980523 rs607230 T C 716.97 PASS BaseQRankSum=0.998;DP=93;Dels=0.00;FS=0.825;HRun=0;HaplotypeScore=2.8098;MQ=55;MQ0=0;MQRankSum=1.316;QD=7.71;ReadPosRankSum=1.495;SB=-389.81;TI=NM_005559;GI=LAMA1;FC=Missense_K2002E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,31:93:99:747,0,1542:55:99:0.333 chr18 6985631 rs617206 C T 1518.66 PASS BaseQRankSum=0.721;DP=100;Dels=0.00;FS=6.382;HRun=0;HaplotypeScore=0.9998;MQ=54;MQ0=0;MQRankSum=2.825;QD=15.19;ReadPosRankSum=-0.792;SB=-917.75;TI=NM_005559;GI=LAMA1;FC=Synonymous_L1797L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,60:100:99:1549,0,970:54:99:0.600 chr18 6986227 rs12607841 G A 828.04 PASS BaseQRankSum=2.485;DP=89;Dels=0.00;FS=0.820;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=-1.011;QD=9.30;ReadPosRankSum=-0.437;SB=-599.33;TI=NM_005559;GI=LAMA1;FC=Missense_A1763V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,37:89:99:858,0,1288:52:99:0.416 chr18 9117867 rs906807 T C 1748.13 PASS DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=29.63;SB=-1067.55;TI=NM_021074;GI=NDUFV2;FC=Missense_V29A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1781,129,0:51:99:1.000 chr18 9119489 rs1129774;rs41274300 A T 1699.21 PASS BaseQRankSum=0.488;DP=139;Dels=0.00;FS=0.705;HRun=1;HaplotypeScore=2.6823;MQ=56;MQ0=6;MQRankSum=1.420;QD=12.22;ReadPosRankSum=0.623;SB=-676.91;TI=NM_021074;GI=NDUFV2;FC=Synonymous_V67V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,67:139:99:1729,0,1956:56:99:0.482 chr18 10677880 rs67526414 GA G 1247.36 R8 BaseQRankSum=-1.844;DP=52;FS=0.000;HRun=11;HaplotypeScore=141.0340;MQ=54;MQ0=0;MQRankSum=-2.147;QD=23.99;ReadPosRankSum=-0.025;SB=-505.07;TI=NM_022068;GI=FAM38B;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,45:52:90.36:1289,90,0:54:90:0.938 chr18 10691216 rs3748422 G A 2025.96 PASS BaseQRankSum=0.678;DP=149;Dels=0.00;FS=5.414;HRun=0;HaplotypeScore=13.7717;MQ=54;MQ0=0;MQRankSum=-0.040;QD=13.60;ReadPosRankSum=-1.521;SB=-661.61;TI=NM_022068;GI=FAM38B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,77:149:99:2056,0,1899:54:99:0.517 chr18 10691357 rs3748421 G A 2062.04 PASS BaseQRankSum=-0.423;DP=158;Dels=0.00;FS=2.810;HRun=0;HaplotypeScore=5.4599;MQ=55;MQ0=0;MQRankSum=0.988;QD=13.05;ReadPosRankSum=0.065;SB=-1126.11;TI=NM_022068;GI=FAM38B;FC=Synonymous_A2292A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,79:158:99:2092,0,1942:55:99:0.503 chr18 10696227 rs2277860 C T 2641.78 PASS BaseQRankSum=0.221;DP=191;Dels=0.00;FS=6.206;HRun=0;HaplotypeScore=15.7026;MQ=57;MQ0=0;MQRankSum=0.515;QD=13.83;ReadPosRankSum=2.038;SB=-1401.07;TI=NM_022068;GI=FAM38B;FC=Synonymous_P2232P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,100:191:99:2672,0,2388:57:99:0.524 chr18 10704619 rs4796901 C G 1247.27 PASS BaseQRankSum=1.700;DP=140;Dels=0.00;FS=2.222;HRun=0;HaplotypeScore=2.7871;MQ=53;MQ0=0;MQRankSum=1.212;QD=8.91;ReadPosRankSum=0.832;SB=-735.21;TI=NM_022068;GI=FAM38B;FC=Missense_E1898Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,54:140:99:1277,0,2062:53:99:0.388 chr18 10705744 rs7227022 G A 745.92 PASS BaseQRankSum=0.447;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2762;MQ=54;MQ0=0;MQRankSum=-0.351;QD=11.84;ReadPosRankSum=-0.612;SB=-494.58;TI=NM_022068;GI=FAM38B;FC=Unknown_1750;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,33:63:99:776,0,791:54:99:0.524 chr18 10748603 rs8096037 A T 2804.65 PASS BaseQRankSum=1.402;DP=211;Dels=0.00;FS=1.706;HRun=0;HaplotypeScore=5.5976;MQ=52;MQ0=0;MQRankSum=-1.081;QD=13.29;ReadPosRankSum=-2.349;SB=-1570.28;TI=NM_022068;GI=FAM38B;FC=Synonymous_L1405L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,112:211:99:2835,0,2360:52:99:0.531 chr18 10752666 rs7234309 C T 1649.44 PASS BaseQRankSum=0.676;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=52;MQ0=0;MQRankSum=1.614;QD=10.85;ReadPosRankSum=0.065;SB=-894.14;TI=NM_022068;GI=FAM38B;FC=Missense_V1354I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,68:152:99:1679,0,2204:52:99:0.447 chr18 10758023 rs7407105 G A 2560.15 PASS DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.45;SB=-1544.15;TI=NM_022068;GI=FAM38B;FC=Synonymous_N1264N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2593,190,0:55:99:1.000 chr18 10762962 rs7241380 G A 7280.05 PASS DP=261;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.8244;MQ=52;MQ0=0;QD=27.89;SB=-4969.32;TI=NM_022068;GI=FAM38B;FC=Synonymous_L1002L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,260:261:99:7280,524,0:52:99:1.000 chr18 10763007 rs7227167 T C 6640.47 PASS DP=226;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4922;MQ=53;MQ0=0;QD=29.38;SB=-4178.52;TI=NM_022068;GI=FAM38B;FC=Synonymous_T987T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,226:226:99:6640,482,0:53:99:1.000 chr18 10787047 rs6505592 G A 1566.42 PASS DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=27.48;SB=-985.68;TI=NM_022068;GI=FAM38B;FC=Synonymous_L769L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:57:99:1599,117,0:58:99:1.000 chr18 10789322 . C A 354.87 PASS BaseQRankSum=0.048;DP=36;Dels=0.00;FS=1.324;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.525;QD=9.86;ReadPosRankSum=-0.844;SB=-149.50;TI=NM_022068;GI=FAM38B;FC=Nonsense_E642X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,16:36:99:385,0,484:57:99:0.444 chr18 10794824 . A C 1688.40 PASS BaseQRankSum=-0.070;DP=127;Dels=0.00;FS=0.658;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-1.380;QD=13.29;ReadPosRankSum=1.636;SB=-1098.40;TI=NM_022068;GI=FAM38B;FC=Missense_I568M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,68:127:99:1718,0,1433:57:99:0.535 chr18 10797362 rs7407224 T G 1102.16 PASS BaseQRankSum=-0.479;DP=65;Dels=0.00;FS=1.382;HRun=0;HaplotypeScore=3.5981;MQ=55;MQ0=0;MQRankSum=3.270;QD=16.96;ReadPosRankSum=-1.207;SB=-238.45;TI=NM_022068;GI=FAM38B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,40:65:99:1132,0,678:55:99:0.615 chr18 11999115 rs11545506 T C 1062.02 PASS BaseQRankSum=0.432;DP=80;Dels=0.00;FS=1.922;HRun=0;HaplotypeScore=5.4571;MQ=51;MQ0=0;MQRankSum=-0.114;QD=13.28;ReadPosRankSum=1.207;SB=-764.81;TI=NM_014214;GI=IMPA2;FC=Synonymous_L53L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,50:80:99:1092,0,701:51:99:0.625 chr18 12014325 rs12956274 G A 967.34 PASS BaseQRankSum=1.046;DP=109;Dels=0.00;FS=0.765;HRun=0;HaplotypeScore=13.2699;MQ=57;MQ0=0;MQRankSum=0.003;QD=8.87;ReadPosRankSum=0.654;SB=-547.01;TI=NM_014214;GI=IMPA2;FC=Missense_R148Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,39:109:99:997,0,1962:57:99:0.358 chr18 12274104 rs45619832 G T 1182.73 PASS BaseQRankSum=1.062;DP=74;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=-0.325;QD=15.98;ReadPosRankSum=-0.171;SB=-382.52;TI=NM_001279,NR_036468;GI=CIDEA,CIDEA;FC=Missense_V115F,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,44:74:99:1213,0,876:57:99:0.595 chr18 12274276 . A G 1310.59 PASS BaseQRankSum=1.844;DP=109;Dels=0.00;FS=1.658;HRun=0;HaplotypeScore=2.8918;MQ=54;MQ0=0;MQRankSum=0.197;QD=12.02;ReadPosRankSum=-0.879;SB=-530.53;TI=NM_001279,NR_036468;GI=CIDEA,CIDEA;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,53:109:99:1341,0,1294:54:99:0.491 chr18 12348285 rs11553521 T C 3684.92 PASS DP=125;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=29.48;SB=-2337.55;TI=NM_006796;GI=AFG3L2;FC=Synonymous_E550E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,125:125:99:3685,268,0:54:99:1.000 chr18 12351342 rs11080572 C T 2451.74 PASS BaseQRankSum=1.628;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7793;MQ=54;MQ0=0;MQRankSum=0.220;QD=29.19;ReadPosRankSum=1.452;SB=-996.06;TI=NM_006796;GI=AFG3L2;FC=Synonymous_L463L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,82:84:99:2485,129,0:54:99:0.976 chr18 12359920 rs8097342 G A 1564.61 PASS BaseQRankSum=1.673;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=0.896;QD=26.52;ReadPosRankSum=0.179;SB=-880.35;TI=NM_006796;GI=AFG3L2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,57:59:99:1598,114,0:56:99:0.983 chr18 18600209 . T G 1066.86 PASS BaseQRankSum=-2.338;DP=74;Dels=0.00;FS=8.450;HRun=0;HaplotypeScore=6.4635;MQ=56;MQ0=0;MQRankSum=0.478;QD=14.42;ReadPosRankSum=1.229;SB=-618.31;TI=NM_005406;GI=ROCK1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,41:74:99:1097,0,953:56:99:0.554 chr18 21112206 rs1805084 C T 1762.37 PASS BaseQRankSum=1.300;DP=151;Dels=0.00;FS=3.885;HRun=1;HaplotypeScore=4.6818;MQ=52;MQ0=0;MQRankSum=2.069;QD=11.67;ReadPosRankSum=-0.390;SB=-922.49;TI=NM_000271;GI=NPC1;FC=Missense_R1266Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,70:151:99:1792,0,1828:52:99:0.464 chr18 21119777 rs1140458 G A 1251.63 PASS DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=32.94;SB=-460.66;TI=NM_000271;GI=NPC1;FC=Synonymous_N931N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,38:38:96.28:1285,96,0:58:96:1.000 chr18 21120444 rs1805082 T C 2041.35 PASS DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5297;MQ=48;MQ0=0;QD=29.58;SB=-1236.90;TI=NM_000271;GI=NPC1;FC=Missense_I858V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,67:69:99:2074,156,0:48:99:1.000 chr18 21123536 rs34878150 TA T 64.66 LowGQX;LowGQ;R8;LowDP BaseQRankSum=-0.898;DP=17;FS=0.000;HRun=18;HaplotypeScore=37.9723;MQ=56;MQ0=0;MQRankSum=0.898;QD=3.80;ReadPosRankSum=-0.480;SB=-20.83;TI=NM_000271;GI=NPC1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,5:17:0.67:102,0,1:56:1:0.500 chr18 21124945 rs1788799 C G 3037.82 PASS DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=76.2917;MQ=47;MQ0=0;QD=27.87;SB=-1544.55;TI=NM_000271;GI=NPC1;FC=Missense_M642I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,99:109:99:3071,250,0:47:99:1.000 chr18 21140432 rs1805081 T C 186.74 LowDP BaseQRankSum=-2.037;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.278;QD=16.98;ReadPosRankSum=1.034;SB=-70.20;TI=NM_000271;GI=NPC1;FC=Missense_H215R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,7:11:98.97:217,0,99:60:99:0.636 chr18 21413869 rs9962023 T C 2648.40 PASS DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=53;MQ0=0;QD=27.30;SB=-1872.99;TI=NM_001127717,NM_198129;GI=LAMA3,LAMA3;FC=Synonymous_A967A,Synonymous_A967A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:2681,193,0:53:99:1.000 chr18 21437931 rs80114457 G C 1636.23 PASS DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.71;SB=-912.40;TI=NM_001127717,NM_198129;GI=LAMA3,LAMA3;FC=Synonymous_G1420G,Synonymous_G1420G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:57:99:1669,120,0:57:99:1.000 chr18 21441717 rs12965685 C T 2727.87 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=54;MQ0=0;QD=29.98;SB=-1311.18;TI=NM_001127717,NM_198129;GI=LAMA3,LAMA3;FC=Synonymous_P1510P,Synonymous_P1510P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2761,199,0:54:99:1.000 chr18 21511089 rs1154233 A G 5805.52 PASS DP=203;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4036;MQ=56;MQ0=0;QD=28.60;SB=-3813.43;TI=NM_001127717,NM_198129,NM_000227,NM_001127718;GI=LAMA3,LAMA3,LAMA3,LAMA3;FC=Missense_S2778G,Missense_S2834G,Missense_S1225G,Missense_S1169G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,202:203:99:5806,418,0:56:99:1.000 chr18 21511172 rs1258107 G C 5548.84 PASS DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=31.17;SB=-3190.72;TI=NM_001127717,NM_198129,NM_000227,NM_001127718;GI=LAMA3,LAMA3,LAMA3,LAMA3;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,178:178:99:5549,406,0:54:99:1.000 chr18 21529722 rs2241643 G A 1287.47 PASS DP=40;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=32.19;SB=-498.85;TI=NM_001127717,NM_198129,NM_000227,NM_001127718;GI=LAMA3,LAMA3,LAMA3,LAMA3;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:40:96.32:1320,96,0:58:96:1.000 chr18 28611139 rs276936 A C 2779.51 PASS DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2586;MQ=54;MQ0=0;QD=28.08;SB=-1928.35;TI=NM_024423,NM_001941;GI=DSC3,DSC3;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,99:99:99:2813,202,0:54:99:1.000 chr18 28612229 rs2852003 G T 1717.72 PASS BaseQRankSum=2.729;DP=150;Dels=0.00;FS=0.604;HRun=0;HaplotypeScore=1.7608;MQ=52;MQ0=0;MQRankSum=2.379;QD=11.45;ReadPosRankSum=0.956;SB=-1315.98;TI=NM_024423,NM_001941;GI=DSC3,DSC3;FC=Missense_A28D,Missense_A28D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,79:150:99:1748,0,1629:52:99:0.527 chr18 28662896 . G A 1215.70 PASS BaseQRankSum=-0.055;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=55;MQ0=0;MQRankSum=-0.525;QD=13.97;ReadPosRankSum=-1.737;SB=-557.24;TI=NM_004949,NM_024422;GI=DSC2,DSC2;FC=Missense_T358I,Missense_T358I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,48:87:99:1246,0,919:55:99:0.552 chr18 28898294 rs1426310 A G 2406.96 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;QD=29.00;SB=-1480.99;TI=NM_001942;GI=DSG1;FC=Missense_M11V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2440,175,0:50:99:1.000 chr18 28913599 rs12967407 C T 2338.28 PASS DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=28.52;SB=-1338.93;TI=NM_001942;GI=DSG1;FC=Synonymous_G244G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2371,172,0:55:99:1.000 chr18 28968371 rs16959856 G A 1653.86 PASS DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=28.51;SB=-1013.54;TI=NM_177986,NM_001134453;GI=DSG4,DSG4;FC=Synonymous_R86R,Synonymous_R86R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1687,123,0:56:99:1.000 chr18 28968959 rs9956865 C T 954.97 PASS DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.84;SB=-437.83;TI=NM_177986,NM_001134453;GI=DSG4,DSG4;FC=Synonymous_S165S,Synonymous_S165S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,32:32:72.24:988,72,0:56:72:1.000 chr18 28986333 rs4799570 A C 170.49 LowGQ;SB;LowDP DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=34.10;SB=-0.01;TI=NM_177986,NM_001134453;GI=DSG4,DSG4;FC=Missense_I644L,Missense_I644L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:15.05:203,15,0:60:15:1.000 chr18 28993183 rs12960081 A G 11664.67 PASS DP=385;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7341;MQ=55;MQ0=0;QD=30.30;SB=-6721.70;TI=NM_177986,NM_001134453;GI=DSG4,DSG4;FC=Synonymous_P916P,Synonymous_P935P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,385:385:99:11665,852,0:55:99:1.000 chr18 28993501 rs7234288 C A 741.44 SB DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8664;MQ=59;MQ0=0;QD=37.07;SB=-0.01;TI=NM_177986,NM_001134453;GI=DSG4,DSG4;FC=Synonymous_P1022P,Synonymous_P1041P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,20:20:60.19:774,60,0:59:60:1.000 chr18 29101215 . CT C 116.61 R8 BaseQRankSum=1.235;DP=32;FS=3.102;HRun=15;HaplotypeScore=118.9787;MQ=55;MQ0=0;MQRankSum=-0.741;QD=3.64;ReadPosRankSum=1.121;SB=-34.74;TI=NM_001943;GI=DSG2;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,7:32:99:156,0,314:55:99:0.259 chr18 29104698 rs2230233 C T 2504.48 PASS BaseQRankSum=1.974;DP=160;Dels=0.00;FS=2.223;HRun=0;HaplotypeScore=8.9619;MQ=57;MQ0=0;MQRankSum=-0.403;QD=15.65;ReadPosRankSum=0.190;SB=-966.82;TI=NM_001943;GI=DSG2;FC=Synonymous_N287N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,88:160:99:2534,0,2051:57:99:0.550 chr18 29122799 rs2278792 G A 49.76 SB;LowDP BaseQRankSum=0.740;DP=12;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.3550;MQ=54;MQ0=0;MQRankSum=-0.370;QD=4.15;ReadPosRankSum=-0.370;SB=-0.01;TI=NM_001943;GI=DSG2;FC=Missense_R773K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,3:12:79.75:80,0,266:54:50:0.250 chr18 29126670 rs1791235 T C 3627.40 PASS BaseQRankSum=3.341;DP=296;Dels=0.00;FS=3.508;HRun=0;HaplotypeScore=8.9409;MQ=55;MQ0=0;MQRankSum=1.355;QD=12.25;ReadPosRankSum=1.392;SB=-1256.65;TI=NM_001943;GI=DSG2;FC=Synonymous_V1107V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:160,136:296:99:3627,0,4193:55:99:0.459 chr18 29788107 rs4799640 G A 4234.34 PASS BaseQRankSum=0.885;DP=303;Dels=0.00;FS=1.936;HRun=0;HaplotypeScore=10.9402;MQ=56;MQ0=0;MQRankSum=3.292;QD=13.97;ReadPosRankSum=0.221;SB=-2388.03;TI=NM_005925;GI=MEP1B;FC=Synonymous_S264S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:138,165:303:99:4234,0,3258:56:99:0.545 chr18 29793526 rs335518 C T 907.86 PASS BaseQRankSum=0.427;DP=69;Dels=0.00;FS=4.818;HRun=2;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.235;QD=13.16;ReadPosRankSum=-0.969;SB=-451.55;TI=NM_005925;GI=MEP1B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,37:69:99:938,0,887:54:99:0.536 chr18 29795076 rs173032 T C 1851.02 PASS BaseQRankSum=3.335;DP=150;Dels=0.00;FS=11.532;HRun=1;HaplotypeScore=7.3664;MQ=54;MQ0=0;MQRankSum=1.589;QD=12.34;ReadPosRankSum=0.434;SB=-847.53;TI=NM_005925;GI=MEP1B;FC=Synonymous_S537S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,72:150:99:1881,0,1953:54:99:0.480 chr18 29795101 rs233223 T C 5023.57 PASS DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3619;MQ=54;MQ0=0;QD=29.55;SB=-3058.36;TI=NM_005925;GI=MEP1B;FC=Missense_S546P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,169:170:99:5024,364,0:54:99:1.000 chr18 29797921 rs616114 C T 1877.49 PASS BaseQRankSum=-0.066;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4176;MQ=55;MQ0=0;MQRankSum=1.747;QD=11.88;ReadPosRankSum=2.542;SB=-942.01;TI=NM_005925;GI=MEP1B;FC=Missense_P695L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,73:158:99:1907,0,2235:55:99:0.462 chr18 32470291 rs9944927 G A 429.43 PASS BaseQRankSum=-1.619;DP=42;Dels=0.00;FS=1.307;HRun=1;HaplotypeScore=1.8664;MQ=56;MQ0=0;MQRankSum=-0.272;QD=10.22;ReadPosRankSum=-1.023;SB=-120.91;TI=NM_032975,NM_001198938,NM_001198939,NM_001198940,NM_001390,NM_001198943,NM_001198944,NM_001198942,NM_032980;GI=DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA,DTNA;FC=Silent,Missense_E688K,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,16:42:99:459,0,726:56:99:0.381 chr18 33713287 rs1785905 T A 1987.09 PASS BaseQRankSum=0.805;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=-1.000;QD=27.99;ReadPosRankSum=0.610;SB=-1339.40;TI=NM_018255;GI=ELP2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,70:71:99:2020,113,0:53:99:0.986 chr18 33718326 rs1785934 A C 2468.24 PASS DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=27.12;SB=-1719.57;TI=NM_018255;GI=ELP2;FC=Missense_T128P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2501,178,0:53:99:1.000 chr18 33719434 rs1785932 C T 2613.12 PASS BaseQRankSum=1.359;DP=104;Dels=0.00;FS=2.167;HRun=1;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=-0.466;QD=25.13;ReadPosRankSum=-0.311;SB=-1830.56;TI=NM_018255;GI=ELP2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,101:104:99:2646,113,0:53:99:0.971 chr18 33725931 rs1785928 G A 3837.82 PASS DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=31.98;SB=-1804.62;TI=NM_018255;GI=ELP2;FC=Missense_V305M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,120:120:99:3838,280,0:55:99:1.000 chr18 33750046 rs8299 C T 7720.17 PASS BaseQRankSum=1.544;DP=294;Dels=0.00;FS=3.163;HRun=0;HaplotypeScore=7.4352;MQ=50;MQ0=0;MQRankSum=0.106;QD=26.26;ReadPosRankSum=-1.390;SB=-5435.23;TI=NM_018255;GI=ELP2;FC=Synonymous_C699C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,293:294:99:7720,521,0:50:99:0.997 chr18 33779821 rs646424 C A 7589.44 PASS BaseQRankSum=1.705;DP=253;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0120;MQ=53;MQ0=0;MQRankSum=1.623;QD=30.00;ReadPosRankSum=-0.034;SB=-3564.45;TI=NM_017947;GI=MOCOS;FC=Synonymous_R159R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,252:253:99:7589,557,0:53:99:0.996 chr18 33779855 rs623053 C T 7417.31 PASS DP=245;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0010;MQ=54;MQ0=0;QD=30.27;SB=-4161.32;TI=NM_017947;GI=MOCOS;FC=Missense_T170I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,245:245:99:7417,545,0:54:99:1.000 chr18 33779896 rs540967 A G 7280.10 PASS DP=259;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.0723;MQ=55;MQ0=0;QD=28.11;SB=-4779.73;TI=NM_017947;GI=MOCOS;FC=Missense_S184G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,259:259:99:7280,527,0:55:99:1.000 chr18 33780020 rs623558 A G 6978.27 PASS DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7222;MQ=57;MQ0=0;QD=31.15;SB=-4224.14;TI=NM_017947;GI=MOCOS;FC=Missense_H225R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,224:224:99:6978,512,0:57:99:1.000 chr18 33785093 rs678560 G A 1704.58 PASS DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=33.42;SB=-354.08;TI=NM_017947;GI=MOCOS;FC=Missense_V358M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:99:1738,129,0:56:99:1.000 chr18 33785185 rs667667 A G 3957.20 PASS DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=25.21;SB=-2736.83;TI=NM_017947;GI=MOCOS;FC=Synonymous_P388P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,157:157:99:3957,277,0:55:99:1.000 chr18 33831189 rs594445 C A 1142.29 PASS BaseQRankSum=1.583;DP=133;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4678;MQ=54;MQ0=0;MQRankSum=0.745;QD=8.59;ReadPosRankSum=0.534;SB=-833.36;TI=NM_017947;GI=MOCOS;FC=Missense_H703N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,54:133:99:1172,0,1773:54:99:0.406 chr18 42533130 rs8096662 A G 223.36 LowGQ;LowDP DP=9;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=24.82;SB=-101.94;TI=NM_015559;GI=SETBP1;FC=Synonymous_S1275S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,9:9:18.06:256,18,0:51:18:1.000 chr18 42533162 . C A 6.77 LowGQX;LowDP BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=50;MQ0=0;MQRankSum=-1.026;QD=1.69;ReadPosRankSum=-1.026;SB=-30.98;TI=NM_015559;GI=SETBP1;FC=Missense_P1286H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:35.74:36,0,72:50:7:0.500 chr18 42533165 . C A 3.90 LowGQX;SB;LowDP BaseQRankSum=0.727;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=50;MQ0=0;MQRankSum=0.727;QD=0.97;ReadPosRankSum=0.727;SB=-0.01;TI=NM_015559;GI=SETBP1;FC=Nonsense_S1287X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,1:4:31.62:32,0,75:50:4:0.250 chr18 43206985 rs1484873 A G 6182.02 PASS DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;QD=28.89;SB=-4099.95;TI=NM_007163;GI=SLC14A2;FC=Missense_I132V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,214:214:99:6182,448,0:56:99:1.000 chr18 43246156 rs9960464 G A 3204.62 PASS BaseQRankSum=1.439;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5162;MQ=53;MQ0=0;MQRankSum=-0.143;QD=24.84;ReadPosRankSum=0.353;SB=-2233.36;TI=NM_007163;GI=SLC14A2;FC=Missense_R510Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,127:129:99:3238,197,0:53:99:0.984 chr18 43247001 rs2156609 C G 7356.87 PASS DP=282;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7880;MQ=52;MQ0=0;QD=26.09;SB=-5367.28;TI=NM_007163;GI=SLC14A2;FC=Synonymous_V553V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,282:282:99:7357,524,0:52:99:1.000 chr18 43262359 rs3745009 G A 1362.68 PASS BaseQRankSum=-1.129;DP=126;Dels=0.00;FS=2.290;HRun=0;HaplotypeScore=3.6532;MQ=56;MQ0=0;MQRankSum=0.363;QD=10.81;ReadPosRankSum=-0.418;SB=-981.12;TI=NM_007163;GI=SLC14A2;FC=Missense_A880T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,65:126:99:1393,0,1531:56:99:0.520 chr18 43307246 rs11877062 C T 3761.43 PASS DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=27.26;SB=-2542.14;TI=NM_001146036,NM_015865,NM_001128588,NM_001146037;GI=SLC14A1,SLC14A1,SLC14A1,SLC14A1;FC=Silent,Silent,Missense_R4W,Missense_R4W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:138:99:3761,271,0:53:99:1.000 chr18 43307338 rs11877086 C A 2801.12 PASS DP=87;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7840;MQ=56;MQ0=0;QD=32.20;SB=-1237.33;TI=NM_001146036,NM_015865,NM_001128588,NM_001146037;GI=SLC14A1,SLC14A1,SLC14A1,SLC14A1;FC=Silent,Silent,Synonymous_G34G,Synonymous_G34G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2834,211,0:56:99:1.000 chr18 43316538 rs2298718 A G 4502.11 PASS DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7855;MQ=49;MQ0=0;QD=26.48;SB=-3204.54;TI=NM_001146036,NM_015865,NM_001128588,NM_001146037;GI=SLC14A1,SLC14A1,SLC14A1,SLC14A1;FC=Synonymous_P196P,Synonymous_P196P,Synonymous_P252P,Synonymous_P252P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,170:170:99:4502,316,0:49:99:1.000 chr18 43319274 rs17675299 G A 1630.99 PASS BaseQRankSum=1.237;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=0.247;QD=29.12;ReadPosRankSum=0.433;SB=-846.01;TI=NM_001146036,NM_015865,NM_001128588,NM_001146037;GI=SLC14A1,SLC14A1,SLC14A1,SLC14A1;FC=Synonymous_A270A,Synonymous_A270A,Synonymous_A326A,Synonymous_A326A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,55:56:88.62:1664,89,0:59:89:0.982 chr18 43319519 rs1058396 G A 2718.72 PASS DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=52;MQ0=0;QD=26.14;SB=-1863.54;TI=NM_001146036,NM_015865,NM_001128588,NM_001146037;GI=SLC14A1,SLC14A1,SLC14A1,SLC14A1;FC=Missense_D280N,Missense_D280N,Missense_D336N,Missense_D336N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:104:99:2752,196,0:52:99:1.000 chr18 44126909 rs1893566 T C 466.24 PASS BaseQRankSum=0.371;DP=49;Dels=0.00;FS=2.541;HRun=4;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=0.170;QD=9.52;ReadPosRankSum=-1.813;SB=-344.70;TI=NM_001145472,NM_144612;GI=LOXHD1,LOXHD1;FC=Missense_R44G,Missense_R1155G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,23:49:99:496,0,704:53:99:0.469 chr18 44585955 rs7233515 G A 2658.23 PASS DP=98;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=8.1421;MQ=51;MQ0=0;QD=27.12;SB=-1825.26;TI=NM_031303;GI=KATNAL2;FC=Missense_S88N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:98:99:2691,193,0:51:99:1.000 chr18 46468946 rs3764482 G A 640.45 PASS BaseQRankSum=0.807;DP=66;Dels=0.00;FS=2.210;HRun=1;HaplotypeScore=1.7608;MQ=54;MQ0=0;MQRankSum=2.789;QD=9.70;ReadPosRankSum=0.715;SB=-346.41;TI=NM_001190823,NM_001190822,NM_005904,NM_001190821;GI=SMAD7,SMAD7,SMAD7,SMAD7;FC=Missense_S28F,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,26:66:99:670,0,1002:54:99:0.394 chr18 47093864 rs2000813 C T 1951.83 PASS BaseQRankSum=0.226;DP=159;Dels=0.00;FS=0.603;HRun=0;HaplotypeScore=2.6548;MQ=56;MQ0=0;MQRankSum=-0.716;QD=12.28;ReadPosRankSum=0.181;SB=-908.12;TI=NM_006033;GI=LIPG;FC=Missense_T111I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,75:159:99:1982,0,2219:56:99:0.472 chr18 47363930 rs79271359 A G 5.10 LowGQX;LowVariantFreq;SB BaseQRankSum=1.775;DP=170;Dels=0.00;FS=12.225;HRun=1;HaplotypeScore=2.8937;MQ=54;MQ0=0;MQRankSum=-6.769;QD=0.03;ReadPosRankSum=-2.758;SB=-0.01;TI=NM_001080467;GI=MYO5B;FC=Synonymous_L1699L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:152,18:170:33.48:33,0,4225:54:5:0.106 chr18 47369758 rs2276170 C T 813.50 PASS BaseQRankSum=1.377;DP=56;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=1.066;QD=14.53;ReadPosRankSum=-0.016;SB=-262.12;TI=NM_001080467;GI=MYO5B;FC=Synonymous_L1488L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,29:56:99:843,0,663:56:99:0.518 chr18 47383243 rs1942418 C T 1326.96 PASS BaseQRankSum=0.316;DP=106;Dels=0.00;FS=0.726;HRun=1;HaplotypeScore=3.6770;MQ=54;MQ0=0;MQRankSum=0.462;QD=12.52;ReadPosRankSum=-1.157;SB=-873.91;TI=NM_001080467;GI=MYO5B;FC=Missense_G1321E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,55:106:99:1357,0,1293:54:99:0.519 chr18 47398549 rs3826579 G A 1953.35 PASS BaseQRankSum=0.972;DP=152;Dels=0.00;FS=1.293;HRun=0;HaplotypeScore=2.7041;MQ=50;MQ0=0;MQRankSum=1.303;QD=12.85;ReadPosRankSum=1.599;SB=-1210.77;TI=NM_001080467;GI=MYO5B;FC=Synonymous_Y1197Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,85:152:99:1983,0,1520:50:99:0.559 chr18 47405304 rs2276176 A G 1450.98 PASS BaseQRankSum=0.103;DP=111;Dels=0.00;FS=6.341;HRun=0;HaplotypeScore=3.8931;MQ=53;MQ0=0;MQRankSum=0.293;QD=13.07;ReadPosRankSum=-1.563;SB=-559.34;TI=NM_001080467;GI=MYO5B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,59:111:99:1481,0,1234:53:99:0.532 chr18 47405425 rs10625857 T TGAG 1914.51 PASS BaseQRankSum=3.649;DP=101;FS=2.709;HRun=0;HaplotypeScore=123.8834;MQ=58;MQ0=0;MQRankSum=0.256;QD=18.96;ReadPosRankSum=-0.144;SB=-755.62;TI=NM_001080467;GI=MYO5B;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,38:101:99:1954,0,3436:58:99:0.376 chr18 47429022 rs2298624 C T 1747.07 PASS BaseQRankSum=-1.847;DP=145;Dels=0.00;FS=0.621;HRun=0;HaplotypeScore=6.4426;MQ=55;MQ0=0;MQRankSum=-0.532;QD=12.05;ReadPosRankSum=-1.285;SB=-1004.15;TI=NM_001080467;GI=MYO5B;FC=Missense_R918H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,69:145:99:1777,0,2064:55:99:0.476 chr18 47455923 rs2298628 C T 677.76 PASS BaseQRankSum=1.430;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=45;MQ0=0;MQRankSum=0.647;QD=11.89;ReadPosRankSum=-0.871;SB=-331.30;TI=NM_001080467;GI=MYO5B;FC=Synonymous_V683V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,27:57:99:708,0,654:45:99:0.474 chr18 47488625 rs17715416 A G 1167.69 PASS BaseQRankSum=0.539;DP=61;Dels=0.00;FS=1.326;HRun=0;HaplotypeScore=4.5761;MQ=57;MQ0=0;MQRankSum=1.938;QD=19.14;ReadPosRankSum=-1.070;SB=-397.66;TI=NM_001080467;GI=MYO5B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,44:61:99:1198,0,449:57:99:0.721 chr18 47563299 rs1815930 T C 4160.06 PASS BaseQRankSum=1.710;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=53;MQ0=0;MQRankSum=0.285;QD=26.33;ReadPosRankSum=-0.943;SB=-2718.63;TI=NM_001080467;GI=MYO5B;FC=Missense_T126A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,157:158:99:4160,298,0:53:99:0.994 chr18 47801800 rs140690 G A 1450.03 PASS BaseQRankSum=1.569;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4596;MQ=55;MQ0=0;MQRankSum=2.928;QD=13.55;ReadPosRankSum=0.290;SB=-508.86;TI=NM_015844,NM_015845,NM_015846,NM_002384,NM_015847;GI=MBD1,MBD1,MBD1,MBD1,MBD1;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,51:107:99:1480,0,1541:55:99:0.477 chr18 49867224 rs9951523 T C 3027.36 PASS DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1147;MQ=50;MQ0=0;QD=27.27;SB=-1922.75;TI=NM_005215;GI=DCC;FC=Missense_F23L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,111:111:99:3060,220,0:50:99:1.000 chr18 50936935 rs984274 A G 1548.59 PASS BaseQRankSum=1.053;DP=113;Dels=0.00;FS=1.547;HRun=0;HaplotypeScore=1.8936;MQ=49;MQ0=0;MQRankSum=0.943;QD=13.70;ReadPosRankSum=-0.101;SB=-856.16;TI=NM_005215;GI=DCC;FC=Missense_M1017V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,62:113:99:1579,0,1085:49:99:0.549 chr18 50936994 rs34395300 T C 869.41 PASS BaseQRankSum=-0.978;DP=106;Dels=0.00;FS=1.619;HRun=2;HaplotypeScore=6.6762;MQ=53;MQ0=0;MQRankSum=-0.753;QD=8.20;ReadPosRankSum=0.116;SB=-548.56;TI=NM_005215;GI=DCC;FC=Synonymous_P1036P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,43:106:99:899,0,1449:53:99:0.406 chr18 50937026 rs11873515 A G 609.11 PASS BaseQRankSum=0.721;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7547;MQ=57;MQ0=0;MQRankSum=-0.733;QD=8.70;ReadPosRankSum=-2.010;SB=-425.51;TI=NM_005215;GI=DCC;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,31:70:99:639,0,937:57:99:0.443 chr18 52895531 rs8766 T C 2262.05 PASS BaseQRankSum=0.570;DP=208;Dels=0.00;FS=0.512;HRun=1;HaplotypeScore=6.2814;MQ=53;MQ0=0;MQRankSum=0.270;QD=10.88;ReadPosRankSum=-0.501;SB=-1372.05;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Synonymous_S647S,Synonymous_S643S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,99:208:99:2292,0,2621:53:99:0.476 chr18 53070914 rs17522826 G A 1231.36 PASS BaseQRankSum=-0.316;DP=104;Dels=0.00;FS=4.948;HRun=0;HaplotypeScore=1.8939;MQ=52;MQ0=0;MQRankSum=0.049;QD=11.84;ReadPosRankSum=0.486;SB=-575.04;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,48:104:99:1261,0,1489:52:99:0.462 chr18 53303101 rs611326 C G 3805.50 PASS DP=122;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.2264;MQ=57;MQ0=0;QD=31.19;SB=-1772.63 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3805,280,0:57:99:1.000 chr18 55221648 rs536560 T C 2160.39 PASS DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=25.42;SB=-1232.41;TI=NM_001012515,NM_000140;GI=FECH,FECH;FC=Synonymous_P313P,Synonymous_P307P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:85:99:2193,160,0:56:99:1.000 chr18 55226383 rs536765 G C 2012.93 PASS DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.14;SB=-1435.44;TI=NM_001012515,NM_000140;GI=FECH,FECH;FC=Synonymous_P272P,Synonymous_P266P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:77:99:2046,144,0:53:99:1.000 chr18 55240505 rs1041951 C T 1281.85 PASS BaseQRankSum=-0.088;DP=105;Dels=0.00;FS=5.090;HRun=1;HaplotypeScore=9.1860;MQ=53;MQ0=0;MQRankSum=3.987;QD=12.21;ReadPosRankSum=1.509;SB=-487.54;TI=NM_001012515,NM_000140;GI=FECH,FECH;FC=Missense_R102Q,Missense_R96Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,48:105:99:1312,0,1419:53:99:0.462 chr18 55317591 rs34027711 C A 847.73 PASS BaseQRankSum=1.329;DP=72;Dels=0.00;FS=0.902;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=-0.586;QD=11.77;ReadPosRankSum=-2.073;SB=-436.17;TI=NM_005603;GI=ATP8B1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,35:72:99:878,0,952:52:99:0.486 chr18 55317676 rs222581 C T 2635.43 PASS DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=26.62;SB=-1925.56;TI=NM_005603;GI=ATP8B1;FC=Missense_A1152T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,99:99:99:2668,190,0:53:99:1.000 chr18 55328431 . C A 3.08 LowGQX;LowVariantFreq;SB BaseQRankSum=1.449;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;MQRankSum=-0.945;QD=0.15;ReadPosRankSum=0.441;SB=-0.01;TI=NM_005603;GI=ATP8B1;FC=Synonymous_G894G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,2:20:30.13:30,0,534:56:3:0.100 chr18 55362532 rs319443 T G 2937.51 PASS DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=32.64;SB=-1739.91;TI=NM_005603;GI=ATP8B1;FC=Synonymous_R271R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2971,223,0:56:99:1.000 chr18 55364852 rs319438 A G 1883.81 PASS DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=28.54;SB=-1033.93;TI=NM_005603;GI=ATP8B1;FC=Synonymous_D232D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:66:99:1917,138,0:54:99:1.000 chr18 56936395 rs7226481 T C 693.39 PASS BaseQRankSum=0.529;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4085;MQ=58;MQ0=0;MQRankSum=0.596;QD=10.67;ReadPosRankSum=0.716;SB=-156.26;TI=NM_013435;GI=RAX;FC=Synonymous_Q294Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,26:65:99:723,0,1116:58:99:0.400 chr18 56940307 rs2271733 G T 1171.80 PASS BaseQRankSum=1.751;DP=91;Dels=0.00;FS=0.795;HRun=1;HaplotypeScore=2.7602;MQ=51;MQ0=0;MQRankSum=1.028;QD=12.88;ReadPosRankSum=0.322;SB=-700.97;TI=NM_013435;GI=RAX;FC=Missense_D44E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,47:91:99:1202,0,894:51:99:0.516 chr18 57014812 rs11354119 TA T 71.85 R8 BaseQRankSum=-1.361;DP=27;FS=0.000;HRun=12;HaplotypeScore=43.1848;MQ=54;MQ0=0;MQRankSum=0.806;QD=2.66;ReadPosRankSum=-0.972;SB=-51.02;TI=NM_005570;GI=LMAN1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,6:27:99:111,0,387:54:72:0.250 chr18 59739962 . T TAA 403.94 R8 BaseQRankSum=-0.251;DP=88;FS=0.842;HRun=13;HaplotypeScore=362.7306;MQ=46;MQ0=0;MQRankSum=0.196;QD=4.59;ReadPosRankSum=-0.050;SB=-193.78;TI=NM_012327,NM_176787;GI=PIGN,PIGN;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,15:88:99:443,0,1245:46:99:0.288 chr18 59774276 . A G 1688.74 PASS BaseQRankSum=4.178;DP=149;Dels=0.00;FS=4.283;HRun=2;HaplotypeScore=3.9020;MQ=54;MQ0=0;MQRankSum=1.931;QD=11.33;ReadPosRankSum=3.223;SB=-575.17;TI=NM_012327,NM_176787;GI=PIGN,PIGN;FC=Synonymous_Y539Y,Synonymous_Y539Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,64:149:99:1719,0,2159:54:99:0.430 chr18 59805532 rs9959632 T C 2455.42 PASS DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=29.94;SB=-1549.07;TI=NM_012327,NM_176787;GI=PIGN,PIGN;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,82:82:99:2488,181,0:55:99:1.000 chr18 59814268 rs9320000 G A 1014.45 PASS BaseQRankSum=2.180;DP=90;Dels=0.00;FS=2.816;HRun=2;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=2.713;QD=11.27;ReadPosRankSum=1.791;SB=-556.38;TI=NM_012327,NM_176787;GI=PIGN,PIGN;FC=Synonymous_H247H,Synonymous_H247H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,42:90:99:1044,0,1190:54:99:0.467 chr18 59814324 rs9320001 G C 838.56 PASS BaseQRankSum=-1.014;DP=63;Dels=0.00;FS=0.996;HRun=1;HaplotypeScore=2.7873;MQ=56;MQ0=0;MQRankSum=-0.034;QD=13.31;ReadPosRankSum=-1.179;SB=-407.81;TI=NM_012327,NM_176787;GI=PIGN,PIGN;FC=Missense_H229D,Missense_H229D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,34:63:99:869,0,773:56:99:0.540 chr18 59821843 rs17069506 T C 2042.55 PASS BaseQRankSum=2.683;DP=177;Dels=0.00;FS=1.177;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.139;QD=11.54;ReadPosRankSum=-0.268;SB=-1319.61;TI=NM_012327,NM_176787;GI=PIGN,PIGN;FC=Missense_K162E,Missense_K162E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,90:177:99:2073,0,2263:53:99:0.508 chr18 60027241 rs1805034 C T 938.79 PASS BaseQRankSum=-0.507;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=51;MQ0=0;MQRankSum=-1.138;QD=9.88;ReadPosRankSum=-1.033;SB=-617.90;TI=NM_003839;GI=TNFRSF11A;FC=Missense_A192V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,41:95:99:969,0,1423:51:99:0.432 chr18 60036083 rs8092336 A G 6738.09 PASS DP=240;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2794;MQ=54;MQ0=0;QD=28.08;SB=-3969.00;TI=NM_003839;GI=TNFRSF11A;FC=Synonymous_T311T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,240:240:99:6738,488,0:54:99:1.000 chr18 60985879 rs1801018 T C 1211.41 PASS BaseQRankSum=-0.572;DP=133;Dels=0.00;FS=0.662;HRun=3;HaplotypeScore=7.9390;MQ=50;MQ0=0;MQRankSum=-1.251;QD=9.11;ReadPosRankSum=1.146;SB=-872.96;TI=NM_000633,NM_000657;GI=BCL2,BCL2;FC=Synonymous_T7T,Synonymous_T7T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,56:133:99:1241,0,1817:50:99:0.421 chr18 61151659 rs77710366 G T 3122.34 PASS BaseQRankSum=1.383;DP=225;Dels=0.00;FS=6.478;HRun=0;HaplotypeScore=13.0858;MQ=58;MQ0=0;MQRankSum=2.930;QD=13.88;ReadPosRankSum=-0.561;SB=-1499.91;TI=NM_002639;GI=SERPINB5;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,117:225:99:3152,0,2849:58:99:0.520 chr18 61156606 rs12454742 G C 1694.11 PASS DP=63;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.89;SB=-965.76;TI=NM_002639;GI=SERPINB5;FC=Synonymous_P111P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1727,123,0:53:99:1.000 chr18 61160287 rs2289519 T C 2008.05 PASS BaseQRankSum=2.423;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5412;MQ=53;MQ0=0;MQRankSum=0.310;QD=27.89;ReadPosRankSum=0.902;SB=-996.39;TI=NM_002639;GI=SERPINB5;FC=Missense_S176P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,69:72:99:2041,109,0:53:99:0.958 chr18 61160320 rs2289520 G C 648.07 PASS BaseQRankSum=1.084;DP=71;Dels=0.00;FS=3.552;HRun=0;HaplotypeScore=5.4095;MQ=53;MQ0=0;MQRankSum=1.522;QD=9.13;ReadPosRankSum=2.304;SB=-365.10;TI=NM_002639;GI=SERPINB5;FC=Missense_V187L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,27:71:99:678,0,1183:53:99:0.380 chr18 61170721 rs1455556 T C 3214.20 PASS BaseQRankSum=0.096;DP=284;Dels=0.00;FS=7.325;HRun=0;HaplotypeScore=8.8860;MQ=55;MQ0=0;MQRankSum=4.269;QD=11.32;ReadPosRankSum=0.375;SB=-1819.88;TI=NM_002639;GI=SERPINB5;FC=Synonymous_S298S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:148,136:284:99:3244,0,3479:55:99:0.479 chr18 61170782 rs1455555 A G 1870.25 PASS BaseQRankSum=-0.594;DP=128;Dels=0.00;FS=1.444;HRun=0;HaplotypeScore=5.6529;MQ=56;MQ0=0;MQRankSum=1.824;QD=14.61;ReadPosRankSum=-2.034;SB=-797.64;TI=NM_002639;GI=SERPINB5;FC=Missense_I319V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,66:128:99:1900,0,1768:56:99:0.516 chr18 61170925 rs8093128 T C 3892.83 PASS DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6789;MQ=53;MQ0=0;QD=31.65;SB=-2157.36;TI=NM_002639;GI=SERPINB5;FC=Synonymous_I366I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:3893,286,0:53:99:1.000 chr18 61323012 rs3180227 C G 1505.80 PASS BaseQRankSum=3.468;DP=167;Dels=0.00;FS=1.235;HRun=0;HaplotypeScore=6.3369;MQ=55;MQ0=0;MQRankSum=0.273;QD=9.02;ReadPosRankSum=-0.640;SB=-1038.34;TI=NM_006919;GI=SERPINB3;FC=Missense_G351A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,66:167:99:1536,0,2509:55:99:0.395 chr18 61326628 rs11370831 A AT 2327.20 PASS DP=63;FS=0.000;HRun=2;HaplotypeScore=520.9420;MQ=54;MQ0=0;QD=36.94;SB=-912.22;TI=NM_006919;GI=SERPINB3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,60:60:99:2369,178,0:54:99:0.952 chr18 61377579 rs1395268 A C 1040.76 PASS BaseQRankSum=-1.731;DP=121;Dels=0.00;FS=2.428;HRun=0;HaplotypeScore=4.4430;MQ=52;MQ0=0;MQRankSum=1.593;QD=8.60;ReadPosRankSum=-0.758;SB=-602.45;TI=NM_080475;GI=SERPINB11;FC=Missense_E51A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,47:121:99:1071,0,1877:52:99:0.388 chr18 61379838 rs4940595 T G 1719.87 PASS BaseQRankSum=-0.030;DP=119;Dels=0.00;FS=1.518;HRun=0;HaplotypeScore=12.0007;MQ=53;MQ0=0;MQRankSum=-0.179;QD=14.45;ReadPosRankSum=0.102;SB=-1091.13;TI=NM_080475;GI=SERPINB11;FC=Missense_X90E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,72:119:99:1750,0,1144:53:99:0.610 chr18 61383354 rs17071550 C T 782.53 PASS BaseQRankSum=0.640;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5758;MQ=53;MQ0=0;MQRankSum=-0.295;QD=8.60;ReadPosRankSum=1.410;SB=-569.28;TI=NM_080475;GI=SERPINB11;FC=Missense_T148M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,37:91:99:813,0,1289:53:99:0.411 chr18 61387312 rs1506418 G A 2426.20 PASS BaseQRankSum=1.752;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4697;MQ=55;MQ0=0;MQRankSum=0.966;QD=13.94;ReadPosRankSum=-1.327;SB=-1216.42;TI=NM_080475;GI=SERPINB11;FC=Missense_A181T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,98:174:99:2456,0,1941:55:99:0.563 chr18 61387333 rs1506419 T A 2364.15 PASS BaseQRankSum=1.740;DP=168;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7829;MQ=56;MQ0=0;MQRankSum=-0.061;QD=14.07;ReadPosRankSum=-0.267;SB=-1344.85;TI=NM_080475;GI=SERPINB11;FC=Missense_W188R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,97:168:99:2394,0,1813:56:99:0.577 chr18 61387389 rs1506420 G A 2170.56 PASS BaseQRankSum=1.923;DP=149;Dels=0.00;FS=3.925;HRun=1;HaplotypeScore=7.4562;MQ=56;MQ0=0;MQRankSum=2.277;QD=14.57;ReadPosRankSum=0.298;SB=-1335.99;TI=NM_080475;GI=SERPINB11;FC=Synonymous_E206E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,86:149:99:2201,0,1703:56:99:0.577 chr18 61390316 rs1395265 C A 2329.59 PASS BaseQRankSum=-1.205;DP=214;Dels=0.00;FS=4.834;HRun=0;HaplotypeScore=7.5538;MQ=57;MQ0=0;MQRankSum=1.243;QD=10.89;ReadPosRankSum=-0.735;SB=-1115.56;TI=NM_080475;GI=SERPINB11;FC=Synonymous_R288R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,93:214:99:2360,0,3157:57:99:0.435 chr18 61390332 rs1395266 C T 2182.40 PASS BaseQRankSum=1.971;DP=207;Dels=0.00;FS=5.030;HRun=1;HaplotypeScore=8.4530;MQ=57;MQ0=0;MQRankSum=0.646;QD=10.54;ReadPosRankSum=0.497;SB=-1064.15;TI=NM_080475;GI=SERPINB11;FC=Missense_T293I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,87:207:99:2212,0,3071:57:99:0.422 chr18 61390361 rs1395267 T C 2630.67 PASS BaseQRankSum=2.000;DP=212;Dels=0.00;FS=3.126;HRun=1;HaplotypeScore=11.1985;MQ=57;MQ0=0;MQRankSum=0.997;QD=12.41;ReadPosRankSum=-1.241;SB=-1498.94;TI=NM_080475;GI=SERPINB11;FC=Missense_S303P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,96:212:99:2661,0,2972:57:99:0.457 chr18 61390570 rs953695 T G 2097.62 PASS BaseQRankSum=4.195;DP=185;Dels=0.00;FS=0.563;HRun=0;HaplotypeScore=5.6373;MQ=53;MQ0=0;MQRankSum=2.087;QD=11.34;ReadPosRankSum=-0.167;SB=-1027.76;TI=NM_080475;GI=SERPINB11;FC=Synonymous_L372L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,85:185:99:2128,0,2405:53:99:0.459 chr18 71928150 rs7238987 C T 900.25 PASS BaseQRankSum=0.486;DP=74;Dels=0.00;FS=3.321;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.416;QD=12.17;ReadPosRankSum=-0.497;SB=-362.20;TI=NM_001914,NM_148923,NM_001190807;GI=CYB5A,CYB5A,CYB5A;FC=Synonymous_P96P,Synonymous_P96P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,37:74:99:930,0,837:53:99:0.500 chr18 71959075 rs1051236;rs76198400 G A 833.59 PASS BaseQRankSum=-0.703;DP=58;Dels=0.00;FS=3.642;HRun=0;HaplotypeScore=0.9998;MQ=53;MQ0=0;MQRankSum=0.197;QD=14.37;ReadPosRankSum=-1.792;SB=-456.13;TI=NM_001914,NM_148923,NM_001190807;GI=CYB5A,CYB5A,CYB5A;FC=Synonymous_Y12Y,Synonymous_Y12Y,Synonymous_Y12Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,34:58:99:864,0,686:53:99:0.586 chr18 72228124 rs4263028 A G 5551.29 PASS BaseQRankSum=1.714;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1623;MQ=53;MQ0=0;MQRankSum=1.714;QD=28.32;ReadPosRankSum=0.548;SB=-3823.71;TI=NM_032649;GI=CNDP1;FC=Missense_I113V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,195:196:99:5551,400,0:53:99:0.995 chr18 72229349 . C T 1084.24 PASS BaseQRankSum=-0.913;DP=99;Dels=0.00;FS=3.732;HRun=0;HaplotypeScore=4.6544;MQ=51;MQ0=0;MQRankSum=0.500;QD=10.95;ReadPosRankSum=-0.332;SB=-702.75;TI=NM_032649;GI=CNDP1;FC=Synonymous_S178S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,50:99:99:1114,0,1200:51:99:0.505 chr18 72234635 rs12960862 C T 2197.88 PASS BaseQRankSum=-0.564;DP=198;Dels=0.00;FS=1.127;HRun=0;HaplotypeScore=8.8586;MQ=53;MQ0=0;MQRankSum=3.396;QD=11.10;ReadPosRankSum=-0.988;SB=-1151.36;TI=NM_032649;GI=CNDP1;FC=Synonymous_Y241Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,90:198:99:2228,0,2592:53:99:0.455 chr18 72997677 rs3826609 C T 1764.07 PASS BaseQRankSum=0.247;DP=146;Dels=0.00;FS=1.334;HRun=0;HaplotypeScore=9.6704;MQ=54;MQ0=0;MQRankSum=0.620;QD=12.08;ReadPosRankSum=0.441;SB=-1030.65;TI=NM_005786;GI=TSHZ1;FC=Synonymous_S60S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,69:146:99:1794,0,2044:54:99:0.476 chr18 72998004 rs3744908 T C 2349.14 PASS BaseQRankSum=2.595;DP=151;Dels=0.00;FS=3.167;HRun=0;HaplotypeScore=7.5106;MQ=54;MQ0=0;MQRankSum=-0.509;QD=15.56;ReadPosRankSum=-0.543;SB=-1233.94;TI=NM_005786;GI=TSHZ1;FC=Synonymous_Y169Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,92:151:99:2379,0,1449:54:99:0.609 chr18 72998124 rs79904500 G A 2277.53 PASS BaseQRankSum=0.404;DP=216;Dels=0.00;FS=3.929;HRun=0;HaplotypeScore=10.9744;MQ=54;MQ0=0;MQRankSum=0.245;QD=10.54;ReadPosRankSum=0.517;SB=-1490.62;TI=NM_005786;GI=TSHZ1;FC=Synonymous_A209A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,93:216:99:2308,0,3155:54:99:0.433 chr18 72998268 rs3744909 T C 2838.97 PASS BaseQRankSum=0.472;DP=214;Dels=0.00;FS=1.676;HRun=0;HaplotypeScore=4.5487;MQ=54;MQ0=0;MQRankSum=3.175;QD=13.27;ReadPosRankSum=1.077;SB=-1608.70;TI=NM_005786;GI=TSHZ1;FC=Synonymous_D257D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,107:214:99:2869,0,2744:54:99:0.500 chr18 72998886 rs3809997 T C 5227.84 PASS BaseQRankSum=-1.107;DP=173;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=11.7980;MQ=55;MQ0=0;MQRankSum=-0.536;QD=30.22;ReadPosRankSum=-0.307;SB=-2968.84;TI=NM_005786;GI=TSHZ1;FC=Synonymous_P463P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,170:173:99:5228,349,0:55:99:0.988 chr18 72999359 rs55679337 T C 1469.18 PASS BaseQRankSum=0.153;DP=107;Dels=0.00;FS=6.227;HRun=3;HaplotypeScore=3.5215;MQ=58;MQ0=0;MQRankSum=1.754;QD=13.73;ReadPosRankSum=-1.031;SB=-789.81;TI=NM_005786;GI=TSHZ1;FC=Missense_L621P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,53:107:99:1499,0,1523:58:99:0.495 chr18 77440128 rs17855830 T G 434.72 LowDP DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=27.17;SB=-197.92;TI=NM_048368,NM_004715;GI=CTDP1,CTDP1;FC=Missense_S61A,Missense_S61A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,16:16:33.11:468,33,0:53:33:1.000 chr18 77464853 . C T 2769.32 PASS BaseQRankSum=1.121;DP=214;Dels=0.00;FS=1.072;HRun=1;HaplotypeScore=15.5102;MQ=51;MQ0=0;MQRankSum=1.333;QD=12.94;ReadPosRankSum=-1.170;SB=-1920.94;TI=NM_048368,NM_004715;GI=CTDP1,CTDP1;FC=Synonymous_I236I,Synonymous_I236I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,119:214:99:2799,0,2337:51:99:0.559 chr18 77513721 rs626169 T C 1922.34 PASS DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=26.70;SB=-1251.41;TI=NM_048368,NM_004715;GI=CTDP1,CTDP1;FC=Silent,Synonymous_D939D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:1955,138,0:56:99:1.000 chr19 579627 rs1803202 C T 1598.20 PASS BaseQRankSum=0.565;DP=126;Dels=0.00;FS=0.654;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=-0.042;QD=12.68;ReadPosRankSum=-0.149;SB=-1164.55;TI=NM_198591,NM_198589,NM_001728;GI=BSG,BSG,BSG;FC=Silent,Synonymous_D65D,Synonymous_D181D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,68:126:99:1628,0,1532:56:99:0.540 chr19 580388 rs2229664 C G 992.36 PASS BaseQRankSum=2.712;DP=85;Dels=0.00;FS=0.847;HRun=1;HaplotypeScore=4.6543;MQ=54;MQ0=0;MQRankSum=-0.233;QD=11.67;ReadPosRankSum=1.560;SB=-617.61;TI=NM_198591,NM_198589,NM_001728;GI=BSG,BSG,BSG;FC=Synonymous_S14S,Synonymous_S78S,Synonymous_S194S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,42:85:99:1022,0,996:54:99:0.494 chr19 603959 . T G 58.91 SB BaseQRankSum=-4.489;DP=77;Dels=0.00;FS=17.867;HRun=3;HaplotypeScore=85.2220;MQ=43;MQ0=0;MQRankSum=-3.310;QD=0.77;ReadPosRankSum=1.775;SB=-0.01;TI=NM_001194;GI=HCN2;FC=Missense_W350G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,17:77:88.90:89,0,1558:43:59:0.221 chr19 603963 . A G 49.96 LowVariantFreq;SB BaseQRankSum=-2.900;DP=77;Dels=0.00;FS=17.827;HRun=3;HaplotypeScore=74.2557;MQ=42;MQ0=0;MQRankSum=-3.711;QD=0.65;ReadPosRankSum=0.109;SB=-0.01;TI=NM_001194;GI=HCN2;FC=Missense_E351G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,15:77:79.95:80,0,1317:42:50:0.195 chr19 603966 . A G 69.13 SB BaseQRankSum=-4.916;DP=74;Dels=0.00;FS=17.879;HRun=2;HaplotypeScore=86.5373;MQ=41;MQ0=0;MQRankSum=-2.656;QD=0.93;ReadPosRankSum=0.630;SB=-0.01;TI=NM_001194;GI=HCN2;FC=Missense_E352G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,19:74:99:99,0,1328:41:69:0.268 chr19 603971 . A G 73.30 SB BaseQRankSum=-4.054;DP=70;Dels=0.01;FS=18.353;HRun=2;HaplotypeScore=71.1029;MQ=41;MQ0=0;MQRankSum=-3.075;QD=1.05;ReadPosRankSum=1.038;SB=-0.01;TI=NM_001194;GI=HCN2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,20:69:99:103,0,1151:41:73:0.290 chr19 605171 rs12981860 T C 2959.88 PASS BaseQRankSum=-0.176;DP=245;Dels=0.00;FS=0.468;HRun=2;HaplotypeScore=11.8970;MQ=54;MQ0=0;MQRankSum=4.232;QD=12.08;ReadPosRankSum=0.931;SB=-2066.32;TI=NM_001194;GI=HCN2;FC=Synonymous_P389P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,133:245:99:2990,0,2525:54:99:0.543 chr19 613307 rs2301778 C T 4203.05 PASS DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8600;MQ=51;MQ0=0;QD=28.59;SB=-2152.87;TI=NM_001194;GI=HCN2;FC=Synonymous_A548A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,147:147:99:4203,322,0:51:99:1.000 chr19 613898 rs1054786 T C 4884.63 PASS DP=193;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.0704;MQ=49;MQ0=0;QD=25.31;SB=-3284.66;TI=NM_001194;GI=HCN2;FC=Synonymous_A624A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,193:193:99:4885,352,0:49:99:1.000 chr19 616057 rs55691080 G C 63.68 SB;LowDP BaseQRankSum=-1.517;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-1.221;QD=7.96;ReadPosRankSum=1.920;SB=-0.01;TI=NM_001194;GI=HCN2;FC=Synonymous_A751A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,3:8:93.68:94,0,179:60:64:0.375 chr19 616086 . C A 11.01 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=11.01;SB=-0.01;TI=NM_001194;GI=HCN2;FC=Missense_P761Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:41,3,0:60:3:1.000 chr19 616220 . C A 3.99 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.736;QD=1.33;ReadPosRankSum=-0.736;SB=-0.01;TI=NM_001194;GI=HCN2;FC=Missense_P806T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:31.78:32,0,39:60:4:0.333 chr19 619021 rs14155 G C 3999.72 PASS DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=52;MQ0=0;QD=27.03;SB=-2535.54;TI=NM_005035;GI=POLRMT;FC=Synonymous_P1081P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:148:99:4000,289,0:52:99:1.000 chr19 619772 rs11669381 G C 3147.91 PASS DP=115;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=55;MQ0=0;QD=27.37;SB=-1624.48;TI=NM_005035;GI=POLRMT;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,115:115:99:3181,229,0:55:99:1.000 chr19 621712 rs2238547 A G 1434.47 PASS DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=29.88;SB=-540.76;TI=NM_005035;GI=POLRMT;FC=Synonymous_A662A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:99:1467,108,0:53:99:1.000 chr19 622207 rs61745193 C T 2300.83 PASS BaseQRankSum=1.326;DP=226;Dels=0.00;FS=1.046;HRun=0;HaplotypeScore=12.5797;MQ=55;MQ0=0;MQRankSum=-0.102;QD=10.18;ReadPosRankSum=0.190;SB=-1638.59;TI=NM_005035;GI=POLRMT;FC=Missense_R598H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:118,107:226:99:2331,0,2967:55:99:0.476 chr19 622336 rs2238549 T G 3215.35 PASS DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4667;MQ=54;MQ0=6;QD=31.84;SB=-757.79;TI=NM_005035;GI=POLRMT;FC=Missense_E555A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:3248,241,0:54:99:1.000 chr19 625198 rs1056766;rs61729793 A G 3826.15 PASS DP=143;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=52;MQ0=4;QD=26.76;SB=-2609.54;TI=NM_005035;GI=POLRMT;FC=Synonymous_T293T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:143:99:3826,280,0:52:99:1.000 chr19 632915 rs12610885 G A 555.37 PASS BaseQRankSum=-3.227;DP=44;Dels=0.00;FS=1.227;HRun=0;HaplotypeScore=1.7608;MQ=59;MQ0=0;MQRankSum=0.364;QD=12.62;ReadPosRankSum=-2.312;SB=-276.05;TI=NM_005035;GI=POLRMT;FC=Missense_P38S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,22:44:99:585,0,616:59:99:0.500 chr19 860852 rs1629038 G C 1281.46 PASS BaseQRankSum=0.929;DP=102;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4547;MQ=54;MQ0=0;MQRankSum=1.512;QD=12.56;ReadPosRankSum=-1.063;SB=-603.40;TI=NM_001928;GI=CFD;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,48:102:99:1311,0,1382:54:99:0.471 chr19 920642 rs350132 T A 1018.67 PASS DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8295;MQ=56;MQ0=0;QD=35.13;SB=-111.57;TI=NM_032551;GI=KISS1R;FC=Missense_L364H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:81.25:1052,81,0:56:81:1.000 chr19 1044753 rs3764648 T C 2905.31 PASS BaseQRankSum=1.625;DP=97;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4346;MQ=56;MQ0=0;MQRankSum=1.661;QD=29.95;ReadPosRankSum=-1.518;SB=-1293.16;TI=NM_019112;GI=ABCA7;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,96:97:99:2938,217,0:56:99:0.990 chr19 1047002 rs3752234 A G 1582.18 PASS BaseQRankSum=1.372;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9606;MQ=52;MQ0=0;MQRankSum=-0.131;QD=11.14;ReadPosRankSum=1.097;SB=-905.27;TI=NM_019112;GI=ABCA7;FC=Synonymous_A608A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,59:142:99:1612,0,1984:52:99:0.421 chr19 1047161 rs3752237 A G 1566.35 PASS BaseQRankSum=1.152;DP=103;Dels=0.00;FS=0.780;HRun=3;HaplotypeScore=6.6263;MQ=57;MQ0=0;MQRankSum=-0.283;QD=15.21;ReadPosRankSum=-0.256;SB=-759.59;TI=NM_019112;GI=ABCA7;FC=Synonymous_G617G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,57:103:99:1596,0,1184:57:99:0.559 chr19 1049012 rs4147912 A C 2184.14 PASS BaseQRankSum=0.355;DP=207;Dels=0.00;FS=1.088;HRun=1;HaplotypeScore=15.9891;MQ=52;MQ0=0;MQRankSum=2.513;QD=10.55;ReadPosRankSum=1.697;SB=-1562.10;TI=NM_019112;GI=ABCA7;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,101:207:99:2214,0,2482:52:99:0.490 chr19 1052005 rs3764652 C T 2522.08 PASS BaseQRankSum=2.995;DP=208;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3809;MQ=55;MQ0=0;MQRankSum=1.776;QD=12.13;ReadPosRankSum=-0.294;SB=-1414.36;TI=NM_019112;GI=ABCA7;FC=Synonymous_A1009A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,102:208:99:2552,0,2863:55:99:0.490 chr19 1054060 rs3752243 A G 2005.46 PASS BaseQRankSum=3.088;DP=163;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0525;MQ=57;MQ0=0;MQRankSum=1.568;QD=12.30;ReadPosRankSum=0.792;SB=-1233.83;TI=NM_019112;GI=ABCA7;FC=Synonymous_L1176L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,81:163:99:2035,0,2041:57:99:0.497 chr19 1055191 rs3745842 G A 2282.53 PASS BaseQRankSum=1.872;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0185;MQ=55;MQ0=0;MQRankSum=2.963;QD=11.71;ReadPosRankSum=-0.576;SB=-1351.98;TI=NM_019112;GI=ABCA7;FC=Missense_R1349Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,92:195:99:2313,0,2515:55:99:0.472 chr19 1056065 rs881768 A G 1311.34 PASS BaseQRankSum=0.625;DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0788;MQ=56;MQ0=0;MQRankSum=-0.531;QD=11.60;ReadPosRankSum=0.784;SB=-639.44;TI=NM_019112;GI=ABCA7;FC=Unknown_1413;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,47:113:99:1341,0,1656:56:99:0.420 chr19 1056492 rs3752246 G C 2205.16 PASS BaseQRankSum=1.016;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4702;MQ=53;MQ0=0;MQRankSum=1.778;QD=11.86;ReadPosRankSum=0.065;SB=-928.01;TI=NM_019112;GI=ABCA7;FC=Missense_G1527A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,87:186:99:2235,0,2470:53:99:0.470 chr19 1064193 rs4147930 G A 1279.43 PASS BaseQRankSum=2.109;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7629;MQ=53;MQ0=0;MQRankSum=0.674;QD=10.15;ReadPosRankSum=-0.190;SB=-847.37;TI=NM_019112;GI=ABCA7;FC=Synonymous_L1995L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,61:126:99:1309,0,1472:53:99:0.484 chr19 1065018 rs4147934 G T 622.56 PASS BaseQRankSum=-0.350;DP=53;Dels=0.00;FS=4.060;HRun=0;HaplotypeScore=6.3531;MQ=58;MQ0=0;MQRankSum=0.608;QD=11.75;ReadPosRankSum=0.792;SB=-173.36;TI=NM_019112;GI=ABCA7;FC=Missense_A2045S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,23:53:99:653,0,659:58:99:0.442 chr19 1065044 rs4147935 C T 816.16 PASS BaseQRankSum=-1.495;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7263;MQ=57;MQ0=0;MQRankSum=-0.584;QD=12.18;ReadPosRankSum=-0.507;SB=-333.38;TI=NM_019112;GI=ABCA7;FC=Synonymous_G2053G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,32:67:99:846,0,827:57:99:0.485 chr19 1074000 rs2074442 A T 1399.79 PASS BaseQRankSum=1.345;DP=137;Dels=0.00;FS=4.240;HRun=0;HaplotypeScore=10.1064;MQ=55;MQ0=0;MQRankSum=0.136;QD=10.22;ReadPosRankSum=-1.929;SB=-844.48;TI=NM_012292;GI=HMHA1;FC=Missense_E259D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,61:137:99:1430,0,2016:55:99:0.445 chr19 1074882 . A G 72.62 SB BaseQRankSum=-2.305;DP=28;Dels=0.00;FS=5.842;HRun=2;HaplotypeScore=33.9258;MQ=48;MQ0=0;MQRankSum=-3.340;QD=2.59;ReadPosRankSum=0.612;SB=-0.01;TI=NM_012292;GI=HMHA1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,11:28:99:103,0,359:48:73:0.393 chr19 1074889 . C G 27.68 SB BaseQRankSum=-2.330;DP=25;Dels=0.00;FS=2.869;HRun=3;HaplotypeScore=17.3533;MQ=45;MQ0=0;MQRankSum=-1.906;QD=1.11;ReadPosRankSum=0.878;SB=-0.01;TI=NM_012292;GI=HMHA1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,7:25:57.67:58,0,336:45:28:0.280 chr19 1080311 rs2074454 G C 1304.48 PASS BaseQRankSum=0.509;DP=98;Dels=0.00;FS=1.639;HRun=2;HaplotypeScore=9.7761;MQ=54;MQ0=0;MQRankSum=-0.884;QD=13.31;ReadPosRankSum=0.357;SB=-770.58;TI=NM_012292;GI=HMHA1;FC=Synonymous_P587P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,50:98:99:1334,0,1323:54:99:0.515 chr19 1081617 rs10404947 A G 950.92 PASS BaseQRankSum=-1.087;DP=112;Dels=0.00;FS=2.755;HRun=2;HaplotypeScore=5.5485;MQ=56;MQ0=0;MQRankSum=2.150;QD=8.49;ReadPosRankSum=0.586;SB=-304.05;TI=NM_012292;GI=HMHA1;FC=Synonymous_Q753Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,39:112:99:981,0,1883:56:99:0.348 chr19 1085966 rs3761028 A G 2589.06 PASS BaseQRankSum=0.378;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2823;MQ=54;MQ0=0;MQRankSum=1.493;QD=29.76;ReadPosRankSum=1.175;SB=-1099.31;TI=NM_012292;GI=HMHA1;FC=Synonymous_T1124T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,86:87:99:2622,165,0:54:99:0.989 chr19 1094004 rs12459404 G A 6038.55 PASS DP=206;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.0704;MQ=54;MQ0=0;QD=29.31;SB=-3674.25;TI=NM_002695;GI=POLR2E;FC=Missense_S44F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,204:206:99:6039,439,0:54:99:1.000 chr19 1222012 rs2075607 G C 1532.28 PASS BaseQRankSum=1.944;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2592;MQ=54;MQ0=0;MQRankSum=-0.697;QD=12.99;ReadPosRankSum=0.894;SB=-1031.37;TI=NM_000455;GI=STK11;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,63:118:99:1562,0,1237:54:99:0.538 chr19 1388538 rs1142530 C T 1139.57 PASS BaseQRankSum=1.146;DP=98;Dels=0.00;FS=1.683;HRun=0;HaplotypeScore=8.0537;MQ=56;MQ0=0;MQRankSum=1.339;QD=11.63;ReadPosRankSum=1.875;SB=-653.60;TI=NM_024407;GI=NDUFS7;FC=Missense_P23L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,44:98:99:1170,0,1302:56:99:0.449 chr19 1440068 rs61746286 G C 253.24 PASS BaseQRankSum=1.495;DP=97;Dels=0.00;FS=10.463;HRun=2;HaplotypeScore=8.3889;MQ=50;MQ0=0;MQRankSum=-3.824;QD=2.61;ReadPosRankSum=-2.205;SB=-223.10;TI=NM_001018;GI=RPS15;FC=Missense_R47P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,24:97:99:283,0,2211:50:99:0.253 chr19 2249477 rs10407022 G T 3511.93 PASS DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2072;MQ=54;MQ0=0;QD=26.81;SB=-2321.16;TI=NM_000479;GI=AMH;FC=Missense_S49I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3512,253,0:54:99:1.000 chr19 2251512 rs7252789 T A 168.03 PASS BaseQRankSum=-0.094;DP=23;Dels=0.00;FS=4.246;HRun=0;HaplotypeScore=3.3286;MQ=53;MQ0=0;MQRankSum=-1.480;QD=7.31;ReadPosRankSum=-1.480;SB=-123.55;TI=NM_000479;GI=AMH;FC=Synonymous_G413G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,9:23:99:198,0,361:53:99:0.391 chr19 2251817 rs10417628 T C 2058.40 PASS DP=79;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.4857;MQ=56;MQ0=0;QD=26.06;SB=-1242.19;TI=NM_000479;GI=AMH;FC=Missense_V515A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2091,153,0:56:99:1.000 chr19 2433890 rs11084940 A G 2423.25 PASS BaseQRankSum=-0.231;DP=220;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.8739;MQ=53;MQ0=0;MQRankSum=2.791;QD=11.01;ReadPosRankSum=2.309;SB=-1359.33;TI=NM_032737;GI=LMNB2;FC=Synonymous_G452G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,103:220:99:2453,0,2801:53:99:0.468 chr19 3595006 rs34486470 A G 492.72 PASS BaseQRankSum=0.409;DP=32;Dels=0.00;FS=1.702;HRun=3;HaplotypeScore=7.5613;MQ=53;MQ0=0;MQRankSum=-0.876;QD=15.40;ReadPosRankSum=-0.525;SB=-130.03;TI=NM_201636,NM_001060;GI=TBXA2R,TBXA2R;FC=Missense_L351P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,20:32:99:523,0,316:53:99:0.625 chr19 3595032 rs5758 C T 246.21 PASS BaseQRankSum=0.381;DP=25;Dels=0.04;FS=2.881;HRun=1;HaplotypeScore=11.7450;MQ=53;MQ0=0;MQRankSum=0.849;QD=9.85;ReadPosRankSum=-2.606;SB=-13.68;TI=NM_201636,NM_001060;GI=TBXA2R,TBXA2R;FC=Synonymous_T342T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,10:24:99:276,0,415:53:99:0.417 chr19 3595794 rs4523 A G 3740.32 PASS DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=51;MQ0=0;QD=25.27;SB=-2702.00;TI=NM_201636,NM_001060;GI=TBXA2R,TBXA2R;FC=Synonymous_Y308Y,Synonymous_Y308Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:148:99:3740,262,0:51:99:1.000 chr19 3600390 rs5745 G A 2166.36 PASS BaseQRankSum=-0.015;DP=210;Dels=0.00;FS=0.514;HRun=0;HaplotypeScore=18.4424;MQ=53;MQ0=0;MQRankSum=1.134;QD=10.32;ReadPosRankSum=-1.328;SB=-1421.38;TI=NM_201636,NM_001060;GI=TBXA2R,TBXA2R;FC=Synonymous_T81T,Synonymous_T81T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,96:210:99:2196,0,2672:53:99:0.457 chr19 3600461 . G A 1575.52 PASS BaseQRankSum=1.425;DP=137;Dels=0.00;FS=4.296;HRun=0;HaplotypeScore=9.3054;MQ=53;MQ0=0;MQRankSum=-0.550;QD=11.50;ReadPosRankSum=1.692;SB=-907.77;TI=NM_201636,NM_001060;GI=TBXA2R,TBXA2R;FC=Missense_H58Y,Missense_H58Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,65:137:99:1606,0,1837:53:99:0.474 chr19 3653525 rs2074957 C T 961.45 PASS BaseQRankSum=1.891;DP=91;Dels=0.00;FS=0.862;HRun=0;HaplotypeScore=6.4426;MQ=55;MQ0=0;MQRankSum=1.859;QD=10.57;ReadPosRankSum=0.036;SB=-399.59;TI=NM_012398,NM_001195733;GI=PIP5K1C,PIP5K1C;FC=Synonymous_S228S,Synonymous_S228S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,40:91:99:991,0,1256:55:99:0.440 chr19 3770965 rs79588413 G A 2103.60 PASS BaseQRankSum=0.668;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4197;MQ=56;MQ0=0;MQRankSum=-0.698;QD=25.34;ReadPosRankSum=0.668;SB=-1449.65;TI=NM_032753;GI=RAX2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,81:83:99:2137,115,0:56:99:0.976 chr19 3771586 rs76076446 G A 999.58 PASS BaseQRankSum=1.325;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2709;MQ=51;MQ0=0;MQRankSum=2.355;QD=10.20;ReadPosRankSum=1.044;SB=-505.85;TI=NM_032753;GI=RAX2;FC=Missense_P52L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,41:98:99:1030,0,1332:51:99:0.418 chr19 4101062 rs10250;rs11539507 G T 525.29 PASS BaseQRankSum=-0.677;DP=67;Dels=0.00;FS=4.302;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=6;MQRankSum=1.838;QD=7.84;ReadPosRankSum=-0.618;SB=-98.18;TI=NM_030662;GI=MAP2K2;FC=Synonymous_I220I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,23:67:99:555,0,1003:51:99:0.343 chr19 4154910 rs35474881 C T 764.60 PASS BaseQRankSum=0.638;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=1.305;QD=10.77;ReadPosRankSum=-1.915;SB=-440.46;TI=NM_032607;GI=CREB3L3;FC=Synonymous_A14A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,36:71:99:795,0,882:54:99:0.507 chr19 4361639 rs80251498 G A 532.93 PASS BaseQRankSum=1.321;DP=64;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4271;MQ=55;MQ0=0;MQRankSum=0.179;QD=8.33;ReadPosRankSum=0.165;SB=-234.99;TI=NM_001199944,NM_003025,NM_001199943;GI=SH3GL1,SH3GL1,SH3GL1;FC=Synonymous_F291F,Synonymous_F355F,Synonymous_F307F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,25:64:99:563,0,946:55:99:0.391 chr19 4362691 rs243261 G C 1131.32 PASS BaseQRankSum=0.919;DP=124;Dels=0.00;FS=1.457;HRun=0;HaplotypeScore=0.8667;MQ=52;MQ0=0;MQRankSum=0.965;QD=9.12;ReadPosRankSum=0.843;SB=-688.55;TI=NM_001199944,NM_003025,NM_001199943;GI=SH3GL1,SH3GL1,SH3GL1;FC=Synonymous_P193P,Synonymous_P257P,Synonymous_P209P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,50:124:99:1161,0,1710:52:99:0.403 chr19 4508945 rs8105775 A G 5166.16 PASS BaseQRankSum=1.691;DP=169;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5929;MQ=56;MQ0=0;MQRankSum=0.871;QD=30.57;ReadPosRankSum=1.691;SB=-2103.20;TI=NM_001080400;GI=PLIN4;FC=Synonymous_P1165P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,168:169:99:5166,373,0:56:99:0.994 chr19 4517726 rs78269307 G A 1380.07 PASS BaseQRankSum=-1.931;DP=134;Dels=0.00;FS=1.440;HRun=0;HaplotypeScore=8.1976;MQ=54;MQ0=0;MQRankSum=0.773;QD=10.30;ReadPosRankSum=0.261;SB=-790.30 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,64:134:99:1410,0,1800:54:99:0.478 chr19 4817288 . A AAGG 1830.00 PASS BaseQRankSum=-0.413;DP=122;FS=1.685;HRun=0;HaplotypeScore=239.5397;MQ=56;MQ0=0;MQRankSum=2.512;QD=15.00;ReadPosRankSum=0.655;SB=-912.29;TI=NM_182919;GI=TICAM1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,35:122:99:1869,0,2094:56:99:0.292 chr19 4818378 rs7255265 T C 4350.98 PASS DP=147;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2762;MQ=54;MQ0=0;QD=29.60;SB=-1800.34;TI=NM_182919;GI=TICAM1;FC=Synonymous_T4T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,147:147:99:4351,319,0:54:99:1.000 chr19 5831672 rs61147939;rs61745631 G C 231.59 PASS BaseQRankSum=-0.878;DP=33;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9995;MQ=35;MQ0=8;MQRankSum=-0.651;QD=7.02;ReadPosRankSum=0.028;SB=-51.70;TI=NM_001040701,NM_000150;GI=FUT6,FUT6;FC=Missense_R303G,Missense_R303G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,10:33:99:262,0,495:35:99:0.303 chr19 5831724 rs13346240 T C 339.28 PASS BaseQRankSum=1.003;DP=47;Dels=0.00;FS=3.442;HRun=0;HaplotypeScore=0.0000;MQ=25;MQ0=21;MQRankSum=0.489;QD=7.22;ReadPosRankSum=-1.774;SB=-111.66;TI=NM_001040701,NM_000150;GI=FUT6,FUT6;FC=Synonymous_P285P,Synonymous_P285P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,22:47:99:369,0,435:25:99:0.468 chr19 5832209 rs778805 G A 177.47 LowDP BaseQRankSum=-0.741;DP=16;Dels=0.00;FS=2.158;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.318;QD=11.09;ReadPosRankSum=0.212;SB=-132.65;TI=NM_001040701,NM_000150;GI=FUT6,FUT6;FC=Missense_P124S,Missense_P124S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,9:16:99:207,0,209:54:99:0.563 chr19 5844537 rs778986 A G 1282.08 PASS DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5251;MQ=56;MQ0=0;QD=30.53;SB=-707.20;TI=NM_001097641,NM_001097639,NM_000149,NM_001097640;GI=FUT3,FUT3,FUT3,FUT3;FC=Missense_M105T,Missense_M105T,Missense_M105T,Missense_M105T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:96.32:1315,96,0:56:96:1.000 chr19 5844649 rs812936 G A 1650.87 PASS DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.8949;MQ=57;MQ0=0;QD=30.02;SB=-482.97;TI=NM_001097641,NM_001097639,NM_000149,NM_001097640;GI=FUT3,FUT3,FUT3,FUT3;FC=Missense_R68W,Missense_R68W,Missense_R68W,Missense_R68W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1684,129,0:57:99:1.000 chr19 5844792 rs28362459 A C 1064.42 PASS BaseQRankSum=1.042;DP=101;Dels=0.00;FS=0.748;HRun=1;HaplotypeScore=5.5759;MQ=55;MQ0=0;MQRankSum=1.650;QD=10.54;ReadPosRankSum=-0.741;SB=-694.98;TI=NM_001097641,NM_001097639,NM_000149,NM_001097640;GI=FUT3,FUT3,FUT3,FUT3;FC=Missense_L20R,Missense_L20R,Missense_L20R,Missense_L20R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,45:101:99:1094,0,1344:55:99:0.446 chr19 5893058 rs12980262 G A 352.68 PASS BaseQRankSum=1.573;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8324;MQ=57;MQ0=0;MQRankSum=0.127;QD=10.69;ReadPosRankSum=0.090;SB=-236.77;TI=NM_001193375;GI=NDUFA11;FC=Missense_A186V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,15:33:99:383,0,457:57:99:0.455 chr19 5903807 rs8108064 G T 3003.18 PASS BaseQRankSum=1.763;DP=238;Dels=0.00;FS=1.608;HRun=0;HaplotypeScore=12.6590;MQ=57;MQ0=0;MQRankSum=1.678;QD=12.62;ReadPosRankSum=-0.906;SB=-1654.74;TI=NM_001193375,NR_034166,NM_175614;GI=NDUFA11,NDUFA11,NDUFA11;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:113,124:238:99:3033,0,2806:57:99:0.523 chr19 5903936 rs1056987 T C 1363.02 PASS BaseQRankSum=-0.262;DP=101;Dels=0.00;FS=1.432;HRun=4;HaplotypeScore=8.4230;MQ=58;MQ0=0;MQRankSum=-0.187;QD=13.50;ReadPosRankSum=-2.979;SB=-92.96;TI=NM_001193375,NR_034166,NM_175614;GI=NDUFA11,NDUFA11,NDUFA11;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,47:101:99:1393,0,1550:58:99:0.465 chr19 6042059 rs2288846 C T 1722.34 PASS BaseQRankSum=-2.054;DP=107;Dels=0.00;FS=0.762;HRun=1;HaplotypeScore=3.6814;MQ=53;MQ0=0;MQRankSum=-0.244;QD=16.10;ReadPosRankSum=-0.218;SB=-1089.68;TI=NM_134433,NM_000635;GI=RFX2,RFX2;FC=Missense_A86T,Missense_A86T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,69:107:99:1752,0,866:53:99:0.645 chr19 6375831 rs2304198 G A 773.36 PASS BaseQRankSum=-0.259;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=1.195;QD=10.45;ReadPosRankSum=-1.173;SB=-347.62;TI=NM_004158;GI=PSPN;FC=Synonymous_S10S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,30:74:99:803,0,1109:58:99:0.405 chr19 6665020 rs344560 T C 3212.42 PASS DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6257;MQ=52;MQ0=0;QD=28.43;SB=-1495.01;TI=NM_172014,NM_003807;GI=TNFSF14,TNFSF14;FC=Missense_K178E,Missense_K214E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3245,238,0:52:99:1.000 chr19 6677989 rs17030 G A 1095.55 PASS BaseQRankSum=1.661;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.3668;MQ=49;MQ0=0;MQRankSum=0.200;QD=12.89;ReadPosRankSum=-0.582;SB=-704.55;TI=NM_000064;GI=C3;FC=Synonymous_P1632P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,50:85:99:1126,0,743:49:99:0.602 chr19 6678474 rs11569565 G A 920.89 PASS BaseQRankSum=-1.530;DP=65;Dels=0.00;FS=1.110;HRun=0;HaplotypeScore=11.7741;MQ=52;MQ0=0;MQRankSum=0.640;QD=14.17;ReadPosRankSum=-2.272;SB=-327.33;TI=NM_000064;GI=C3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,40:65:99:951,0,622:52:99:0.615 chr19 6679511 rs2277984 C T 1194.65 PASS BaseQRankSum=0.710;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=54;MQ0=0;MQRankSum=1.545;QD=11.83;ReadPosRankSum=1.131;SB=-686.81;TI=NM_000064;GI=C3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,50:101:99:1225,0,1227:54:99:0.495 chr19 6696597 rs2287845 G A 1316.69 PASS BaseQRankSum=0.878;DP=105;Dels=0.00;FS=0.754;HRun=1;HaplotypeScore=12.0514;MQ=53;MQ0=0;MQRankSum=3.134;QD=12.54;ReadPosRankSum=1.912;SB=-702.36;TI=NM_000064;GI=C3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,51:105:99:1347,0,1183:53:99:0.490 chr19 6697406 rs423490 A G 1537.67 PASS BaseQRankSum=3.015;DP=131;Dels=0.00;FS=1.433;HRun=1;HaplotypeScore=1.8937;MQ=53;MQ0=0;MQRankSum=0.435;QD=11.74;ReadPosRankSum=-0.914;SB=-900.47;TI=NM_000064;GI=C3;FC=Synonymous_A915A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,68:131:99:1568,0,1538:53:99:0.519 chr19 6702157 rs428453 C G 666.39 PASS BaseQRankSum=-0.361;DP=106;Dels=0.00;FS=0.815;HRun=0;HaplotypeScore=2.7331;MQ=54;MQ0=0;MQRankSum=2.278;QD=6.29;ReadPosRankSum=2.695;SB=-362.42;TI=NM_000064;GI=C3;FC=Synonymous_V807V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,31:106:99:696,0,1772:54:99:0.292 chr19 6702598 rs406514 G A 849.94 PASS BaseQRankSum=-0.860;DP=82;Dels=0.00;FS=6.055;HRun=0;HaplotypeScore=4.7544;MQ=56;MQ0=0;MQRankSum=-0.116;QD=10.37;ReadPosRankSum=0.386;SB=-547.37;TI=NM_000064;GI=C3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,38:82:99:880,0,1184:56:99:0.463 chr19 6709848 rs2230204 C T 305.77 PASS BaseQRankSum=0.616;DP=43;Dels=0.00;FS=1.367;HRun=0;HaplotypeScore=6.8572;MQ=54;MQ0=0;MQRankSum=0.013;QD=7.11;ReadPosRankSum=-1.721;SB=-165.20;TI=NM_000064;GI=C3;FC=Synonymous_V564V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,16:43:99:336,0,694:54:99:0.372 chr19 7184518 rs891087 G A 476.72 PASS BaseQRankSum=-0.244;DP=51;Dels=0.00;FS=1.132;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.802;QD=9.35;ReadPosRankSum=-0.731;SB=-218.61;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Synonymous_D261D,Synonymous_D261D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,19:51:99:507,0,771:57:99:0.373 chr19 7293898 rs7508518 G C 382.34 LowDP DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=29.41;SB=-150.00;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Missense_A2G,Missense_A2G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,13:13:30.10:415,30,0:54:30:1.000 chr19 7593589 rs612862 C T 1298.00 PASS BaseQRankSum=0.156;DP=84;Dels=0.00;FS=1.823;HRun=0;HaplotypeScore=10.0189;MQ=53;MQ0=0;MQRankSum=0.156;QD=15.45;ReadPosRankSum=0.632;SB=-832.56;TI=NM_020533;GI=MCOLN1;FC=Synonymous_N328N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,51:84:99:1328,0,808:53:99:0.607 chr19 7606908 rs17854645 G C 1259.78 PASS BaseQRankSum=0.124;DP=104;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.8667;MQ=54;MQ0=0;MQRankSum=0.625;QD=12.11;ReadPosRankSum=0.150;SB=-635.27;TI=NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114;GI=PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6;FC=Missense_A364P,Missense_A364P,Missense_A412P,Missense_A364P,Missense_A403P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,49:104:99:1290,0,1475:54:99:0.471 chr19 7607441 rs574930 C T 1122.12 PASS BaseQRankSum=-0.381;DP=76;Dels=0.00;FS=1.930;HRun=1;HaplotypeScore=6.5112;MQ=55;MQ0=0;MQRankSum=-0.687;QD=14.76;ReadPosRankSum=0.021;SB=-643.88;TI=NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114;GI=PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,45:76:99:1152,0,783:55:99:0.592 chr19 7607564 rs620744 T C 1754.90 PASS BaseQRankSum=0.940;DP=132;Dels=0.00;FS=5.456;HRun=1;HaplotypeScore=6.4334;MQ=53;MQ0=0;MQRankSum=-1.018;QD=13.29;ReadPosRankSum=-0.552;SB=-1092.83;TI=NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114;GI=PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,71:132:99:1785,0,1420:53:99:0.538 chr19 7615903 rs8107538 G A 1966.85 PASS BaseQRankSum=0.900;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2038;MQ=49;MQ0=0;MQRankSum=-0.687;QD=14.36;ReadPosRankSum=-0.138;SB=-1383.61;TI=NM_006702,NM_001166112,NM_001166111,NM_001166113,NM_001166114;GI=PNPLA6,PNPLA6,PNPLA6,PNPLA6,PNPLA6;FC=Synonymous_P659P,Synonymous_P633P,Synonymous_P707P,Synonymous_P659P,Synonymous_P698P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,90:137:99:1997,0,1022:49:99:0.657 chr19 7712277 rs6791 A G 791.48 PASS BaseQRankSum=-0.207;DP=101;Dels=0.00;FS=2.696;HRun=0;HaplotypeScore=4.4922;MQ=53;MQ0=0;MQRankSum=-1.279;QD=7.84;ReadPosRankSum=-1.328;SB=-581.88;TI=NM_006949,NM_001127396;GI=STXBP2,STXBP2;FC=Missense_I526V,Missense_I523V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,38:101:99:821,0,1727:53:99:0.376 chr19 7831700 rs562607 G C 4256.68 PASS DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0154;MQ=57;MQ0=0;QD=30.62;SB=-1324.74;TI=NM_001144904,NR_026707,NR_026708,NM_001144911,NM_001144906,NM_001144909,NM_001144905,NM_001144907,NM_001144908,NM_001144910,NM_014257,NR_026709;GI=CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M,CLEC4M;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:139:99:4257,313,0:57:99:1.000 chr19 8152725 rs12460643 A G 1877.94 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=51;MQ0=0;QD=26.83;SB=-904.91;TI=NM_032447;GI=FBN3;FC=Synonymous_D2201D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,70:70:99:1911,141,0:51:99:1.000 chr19 8154990 rs35002391 C T 1538.85 PASS BaseQRankSum=0.359;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=59;MQ0=0;MQRankSum=-1.486;QD=16.55;ReadPosRankSum=0.884;SB=-739.27;TI=NM_032447;GI=FBN3;FC=Synonymous_E2059E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,51:93:99:1569,0,1282:59:99:0.548 chr19 8159362 rs7245429 G T 1780.71 PASS BaseQRankSum=0.826;DP=134;Dels=0.00;FS=18.376;HRun=0;HaplotypeScore=4.6540;MQ=57;MQ0=0;MQRankSum=1.802;QD=13.29;ReadPosRankSum=-0.889;SB=-1010.94;TI=NM_032447;GI=FBN3;FC=Missense_P1958H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,70:134:99:1811,0,1837:57:99:0.522 chr19 8159409 rs7245552 G T 1967.61 PASS BaseQRankSum=0.876;DP=176;Dels=0.00;FS=0.566;HRun=0;HaplotypeScore=7.6527;MQ=57;MQ0=0;MQRankSum=-0.095;QD=11.18;ReadPosRankSum=0.544;SB=-1256.07;TI=NM_032447;GI=FBN3;FC=Synonymous_P1942P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,82:176:99:1998,0,2162:57:99:0.471 chr19 8160897 rs12150963 G C 1428.22 PASS BaseQRankSum=-0.975;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=50;MQ0=0;MQRankSum=2.344;QD=15.19;ReadPosRankSum=-0.379;SB=-659.81;TI=NM_032447;GI=FBN3;FC=Missense_N1869K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,54:94:99:1458,0,922:50:99:0.574 chr19 8168538 . C T 1388.61 PASS BaseQRankSum=0.673;DP=108;Dels=0.00;FS=0.729;HRun=0;HaplotypeScore=5.6547;MQ=50;MQ0=0;MQRankSum=1.623;QD=12.86;ReadPosRankSum=-0.975;SB=-890.19;TI=NM_032447;GI=FBN3;FC=Missense_C1616Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,59:108:99:1419,0,1018:50:99:0.546 chr19 8176569 rs35306870 G A 2513.74 PASS BaseQRankSum=2.014;DP=226;Dels=0.00;FS=0.503;HRun=0;HaplotypeScore=10.6468;MQ=54;MQ0=0;MQRankSum=0.644;QD=11.12;ReadPosRankSum=-1.058;SB=-1419.75;TI=NM_032447;GI=FBN3;FC=Synonymous_C1349C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,113:226:99:2544,0,2747:54:99:0.502 chr19 8176640 rs12975322 C T 2169.16 PASS BaseQRankSum=3.185;DP=205;Dels=0.00;FS=1.779;HRun=0;HaplotypeScore=7.1498;MQ=55;MQ0=0;MQRankSum=2.723;QD=10.58;ReadPosRankSum=1.205;SB=-1265.80;TI=NM_032447;GI=FBN3;FC=Missense_V1326I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,94:205:99:2199,0,2765:55:99:0.461 chr19 8176919 rs4804264 C T 1591.09 PASS BaseQRankSum=2.148;DP=125;Dels=0.00;FS=0.666;HRun=0;HaplotypeScore=9.1219;MQ=47;MQ0=0;MQRankSum=2.743;QD=12.73;ReadPosRankSum=1.203;SB=-979.82;TI=NM_032447;GI=FBN3;FC=Synonymous_P1301P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,64:125:99:1621,0,1238:47:99:0.516 chr19 8186281 . A AG 1848.87 PASS BaseQRankSum=0.792;DP=100;FS=0.817;HRun=5;HaplotypeScore=132.9920;MQ=59;MQ0=0;MQRankSum=1.608;QD=18.49;ReadPosRankSum=-0.753;SB=-806.68;TI=NM_032447;GI=FBN3;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,60:100:99:1888,0,925:59:99:0.606 chr19 8191184 rs35025963 C T 1990.88 PASS BaseQRankSum=0.164;DP=156;Dels=0.00;FS=27.061;HRun=1;HaplotypeScore=12.4583;MQ=55;MQ0=0;MQRankSum=2.626;QD=12.76;ReadPosRankSum=1.345;SB=-285.70;TI=NM_032447;GI=FBN3;FC=Missense_D868N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,71:156:99:2021,0,2303:55:99:0.455 chr19 8191238 rs10906993 C T 6151.90 PASS DP=210;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3562;MQ=58;MQ0=0;QD=29.29;SB=-3489.86;TI=NM_032447;GI=FBN3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,208:210:99:6152,448,0:58:99:1.000 chr19 8191401 rs3813778 G A 2595.02 PASS BaseQRankSum=1.694;DP=247;Dels=0.00;FS=2.169;HRun=0;HaplotypeScore=10.9486;MQ=54;MQ0=0;MQRankSum=0.252;QD=10.51;ReadPosRankSum=-1.041;SB=-1703.39;TI=NM_032447;GI=FBN3;FC=Synonymous_C835C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:135,111:247:99:2625,0,3641:54:99:0.451 chr19 8196444 rs4804271 C T 1884.03 PASS DP=68;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.3159;MQ=54;MQ0=0;QD=27.71;SB=-1230.11;TI=NM_032447;GI=FBN3;FC=Missense_D662N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:1917,141,0:54:99:1.000 chr19 8196508 rs12974280 G C 909.87 PASS BaseQRankSum=-0.321;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6931;MQ=57;MQ0=0;MQRankSum=1.440;QD=15.16;ReadPosRankSum=1.574;SB=-538.62;TI=NM_032447;GI=FBN3;FC=Synonymous_S640S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,34:60:99:940,0,657:57:99:0.567 chr19 8196643 rs61744943 G A 393.13 PASS BaseQRankSum=-1.106;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1967;MQ=56;MQ0=0;MQRankSum=1.044;QD=7.86;ReadPosRankSum=-0.983;SB=-210.44;TI=NM_032447;GI=FBN3;FC=Synonymous_R595R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,17:50:99:423,0,894:56:99:0.340 chr19 8197865 rs11666450 C T 625.16 PASS BaseQRankSum=-1.437;DP=75;Dels=0.00;FS=0.922;HRun=1;HaplotypeScore=3.5489;MQ=54;MQ0=0;MQRankSum=0.270;QD=8.34;ReadPosRankSum=1.217;SB=-433.17;TI=NM_032447;GI=FBN3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,30:75:99:655,0,1042:54:99:0.405 chr19 8197983 rs35202360 G A 972.13 PASS BaseQRankSum=-0.839;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5584;MQ=58;MQ0=0;MQRankSum=-0.585;QD=18.69;ReadPosRankSum=1.483;SB=-461.39;TI=NM_032447;GI=FBN3;FC=Synonymous_N533N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,35:52:99:1002,0,318:58:99:0.673 chr19 8212263 rs11878432 G A 6640.77 PASS DP=247;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.6765;MQ=55;MQ0=0;QD=26.89;SB=-4333.28;TI=NM_032447;GI=FBN3;FC=Synonymous_D34D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,246:247:99:6641,473,0:55:99:1.000 chr19 8376431 rs561 G A 2058.35 PASS BaseQRankSum=-1.064;DP=170;Dels=0.00;FS=1.241;HRun=0;HaplotypeScore=7.4266;MQ=54;MQ0=0;MQRankSum=1.086;QD=12.11;ReadPosRankSum=-0.222;SB=-935.87;TI=NM_005001;GI=NDUFA7;FC=Synonymous_P100P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,81:170:99:2088,0,2194:54:99:0.476 chr19 8436164 rs1044250 C T 957.27 PASS BaseQRankSum=-0.832;DP=80;Dels=0.00;FS=2.992;HRun=0;HaplotypeScore=4.4430;MQ=55;MQ0=0;MQRankSum=-0.457;QD=11.97;ReadPosRankSum=-0.476;SB=-554.07;TI=NM_001039667,NM_139314;GI=ANGPTL4,ANGPTL4;FC=Missense_T228M,Missense_T266M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,40:80:99:987,0,1113:55:99:0.500 chr19 8645786 rs7252299 A C 3292.00 PASS DP=116;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9983;MQ=53;MQ0=0;QD=28.38;SB=-1709.56;TI=NM_030957;GI=ADAMTS10;FC=Missense_H1101Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,116:116:99:3292,241,0:53:99:1.000 chr19 8669931 rs7255721 G C 806.13 PASS BaseQRankSum=2.666;DP=89;Dels=0.00;FS=4.481;HRun=0;HaplotypeScore=5.3369;MQ=57;MQ0=0;MQRankSum=2.085;QD=9.06;ReadPosRankSum=0.567;SB=-257.40;TI=NM_030957;GI=ADAMTS10;FC=Missense_T134S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,30:89:99:836,0,1441:57:99:0.345 chr19 9325085 . G A 5.45 LowGQX;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.804;QD=2.73;ReadPosRankSum=0.804;SB=-0.01;TI=NM_001005191;GI=OR7D4;FC=Synonymous_L143L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:31.78:34,0,32:60:5:0.500 chr19 9325116 rs5020278 G A 10.43 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=10.43;SB=-0.01;TI=NM_001005191;GI=OR7D4;FC=Missense_T133M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:40,3,0:60:3:1.000 chr19 9968139 rs11556087 G A 1244.46 PASS BaseQRankSum=-1.671;DP=96;Dels=0.00;FS=0.774;HRun=0;HaplotypeScore=9.0435;MQ=56;MQ0=0;MQRankSum=1.356;QD=12.96;ReadPosRankSum=-0.308;SB=-731.34;TI=NM_058164;GI=OLFM2;FC=Missense_T127M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,47:96:99:1274,0,1282:56:99:0.490 chr19 9968434 rs2303100 C T 2848.72 PASS BaseQRankSum=0.566;DP=253;Dels=0.00;FS=0.460;HRun=0;HaplotypeScore=7.1429;MQ=53;MQ0=0;MQRankSum=2.994;QD=11.26;ReadPosRankSum=1.307;SB=-1805.06;TI=NM_058164;GI=OLFM2;FC=Missense_R106Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,116:253:99:2879,0,3226:53:99:0.460 chr19 10224526 rs3745600 C T 1354.92 PASS BaseQRankSum=0.004;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.2300;MQ=58;MQ0=0;MQRankSum=1.295;QD=14.57;ReadPosRankSum=-1.018;SB=-647.36;TI=NM_001040664,NM_001198690,NM_002566;GI=PPAN-P2RY11,PPAN-P2RY11,P2RY11;FC=Synonymous_A499A,Missense_P520L,Synonymous_A79A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,47:93:99:1385,0,1242:58:99:0.505 chr19 10265312 rs721186 T C 1677.83 PASS DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=29.96;SB=-645.54;TI=NM_001379,NM_001130823;GI=DNMT1,DNMT1;FC=Synonymous_T578T,Synonymous_T594T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:1711,129,0:55:99:1.000 chr19 10267077 rs2228611 T C 1436.53 PASS BaseQRankSum=0.161;DP=135;Dels=0.00;FS=1.365;HRun=0;HaplotypeScore=5.4620;MQ=55;MQ0=0;MQRankSum=-0.663;QD=10.64;ReadPosRankSum=-1.073;SB=-964.81;TI=NM_001379,NM_001130823;GI=DNMT1,DNMT1;FC=Synonymous_P447P,Synonymous_P463P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,64:135:99:1467,0,1653:55:99:0.474 chr19 10270746 rs35336927 GA G 3367.26 R8 BaseQRankSum=-1.793;DP=149;FS=4.757;HRun=11;HaplotypeScore=157.4841;MQ=56;MQ0=0;MQRankSum=1.000;QD=22.60;ReadPosRankSum=0.130;SB=-1166.52;TI=NM_001379,NM_001130823;GI=DNMT1,DNMT1;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:20,122:149:99:3367,132,0:56:99:0.859 chr19 10273333 . A T 9.66 LowVariantFreq;SB BaseQRankSum=-3.006;DP=35;Dels=0.00;FS=26.527;HRun=0;HaplotypeScore=25.1540;MQ=41;MQ0=0;MQRankSum=-2.289;QD=0.28;ReadPosRankSum=0.579;SB=-0.01;TI=NM_001379,NM_001130823;GI=DNMT1,DNMT1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,4:35:39.15:39,0,793:41:10:0.121 chr19 10395468 rs5497 G A 1975.15 PASS BaseQRankSum=-2.885;DP=147;Dels=0.00;FS=1.325;HRun=1;HaplotypeScore=7.2714;MQ=56;MQ0=0;MQRankSum=0.114;QD=13.44;ReadPosRankSum=-0.785;SB=-1078.63;TI=NM_000201;GI=ICAM1;FC=Missense_R397Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,75:147:99:2005,0,1917:56:99:0.510 chr19 10395683 rs5498 A G 1274.93 PASS BaseQRankSum=0.612;DP=96;Dels=0.00;FS=0.813;HRun=0;HaplotypeScore=7.2748;MQ=55;MQ0=0;MQRankSum=1.478;QD=13.28;ReadPosRankSum=-0.392;SB=-462.33;TI=NM_000201;GI=ICAM1;FC=Missense_K469E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,46:96:99:1305,0,1323:55:99:0.479 chr19 10402938 rs1056538 G A 639.06 PASS DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=31.95;SB=-230.47;TI=NM_003259;GI=ICAM5;FC=Missense_V301I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,20:20:51.16:672,51,0:55:51:1.000 chr19 10403368 rs2228615 G A 4453.61 PASS DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5194;MQ=55;MQ0=0;QD=30.09;SB=-2028.26;TI=NM_003259;GI=ICAM5;FC=Missense_A348T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:148:99:4454,325,0:55:99:1.000 chr19 10404519 rs17852402 G A 1980.23 PASS BaseQRankSum=0.423;DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.8152;MQ=56;MQ0=0;MQRankSum=0.853;QD=13.56;ReadPosRankSum=1.497;SB=-1277.21;TI=NM_003259;GI=ICAM5;FC=Synonymous_E537E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,83:146:99:2010,0,1439:56:99:0.568 chr19 10407169 rs710845 G C 122.88 LowGQ;LowDP DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=30.72;SB=-40.19;TI=NM_003259;GI=ICAM5;FC=Synonymous_L884L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,4:4:12.04:155,12,0:54:12:1.000 chr19 10472933 rs280519 A G 2147.66 PASS BaseQRankSum=3.454;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=58;MQ0=0;MQRankSum=2.759;QD=15.79;ReadPosRankSum=-1.379;SB=-1020.65;TI=NM_003331;GI=TYK2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,74:136:99:2178,0,1703:58:99:0.544 chr19 10473138 rs280520 A G 3007.94 PASS BaseQRankSum=1.884;DP=206;Dels=0.00;FS=0.527;HRun=2;HaplotypeScore=14.7557;MQ=57;MQ0=0;MQRankSum=0.545;QD=14.60;ReadPosRankSum=1.484;SB=-1514.19;TI=NM_003331;GI=TYK2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,113:206:99:3038,0,2523:57:99:0.549 chr19 10738639 rs3087969 C T 4801.64 PASS DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4294;MQ=54;MQ0=0;QD=28.58;SB=-2707.35;TI=NM_001145056,NM_020428;GI=SLC44A2,SLC44A2;FC=Synonymous_D66D,Synonymous_D68D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,168:168:99:4802,349,0:54:99:1.000 chr19 10742170 rs2288904 A G 1313.54 PASS DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6603;MQ=53;MQ0=0;QD=28.56;SB=-830.49;TI=NM_001145056,NM_020428;GI=SLC44A2,SLC44A2;FC=Missense_Q152R,Missense_Q154R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,45:46:99:1347,99,0:53:99:1.000 chr19 10939792 rs2229920 T C 1061.53 PASS BaseQRankSum=-0.713;DP=122;Dels=0.00;FS=0.688;HRun=1;HaplotypeScore=11.2586;MQ=50;MQ0=0;MQRankSum=0.650;QD=8.70;ReadPosRankSum=0.545;SB=-699.50;TI=NM_001005362,NM_004945,NM_001005361,NM_001190716,NM_001005360;GI=DNM2,DNM2,DNM2,DNM2,DNM2;FC=Synonymous_A709A,Synonymous_A709A,Synonymous_A713A,Synonymous_A713A,Synonymous_A713A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,50:122:99:1092,0,1557:50:99:0.413 chr19 11101993 rs17001073 G A 889.18 PASS BaseQRankSum=2.409;DP=93;Dels=0.00;FS=3.988;HRun=2;HaplotypeScore=1.8939;MQ=55;MQ0=0;MQRankSum=0.167;QD=9.56;ReadPosRankSum=-0.857;SB=-550.44;TI=NM_003072,NM_001128844,NM_001128849,NM_001128847,NM_001128846,NM_001128845,NM_001128848;GI=SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4;FC=Synonymous_K471K,Synonymous_K471K,Synonymous_K471K,Synonymous_K471K,Synonymous_K471K,Synonymous_K471K,Synonymous_K471K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,40:93:99:919,0,1313:55:99:0.430 chr19 11105593 rs17001075 A G 1436.11 PASS BaseQRankSum=-0.025;DP=115;Dels=0.00;FS=0.714;HRun=1;HaplotypeScore=4.8927;MQ=54;MQ0=0;MQRankSum=1.140;QD=12.49;ReadPosRankSum=0.518;SB=-787.83;TI=NM_003072,NM_001128844,NM_001128849,NM_001128847,NM_001128846,NM_001128845,NM_001128848;GI=SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4;FC=Synonymous_A503A,Synonymous_A503A,Synonymous_A503A,Synonymous_A503A,Synonymous_A503A,Synonymous_A503A,Synonymous_A503A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,61:115:99:1466,0,1132:54:99:0.530 chr19 11105608 rs7935 T C 1274.61 PASS BaseQRankSum=0.654;DP=93;Dels=0.00;FS=1.791;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=-1.188;QD=13.71;ReadPosRankSum=-1.110;SB=-660.27;TI=NM_003072,NM_001128844,NM_001128849,NM_001128847,NM_001128846,NM_001128845,NM_001128848;GI=SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4;FC=Synonymous_H508H,Synonymous_H508H,Synonymous_H508H,Synonymous_H508H,Synonymous_H508H,Synonymous_H508H,Synonymous_H508H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,52:93:99:1305,0,989:55:99:0.559 chr19 11170839 rs7275 T C 581.99 PASS BaseQRankSum=-0.750;DP=35;Dels=0.00;FS=2.958;HRun=0;HaplotypeScore=2.8662;MQ=58;MQ0=0;MQRankSum=-1.217;QD=16.63;ReadPosRankSum=0.550;SB=-265.26;TI=NM_003072,NM_001128844,NM_001128849,NM_001128847,NM_001128846,NM_001128845,NM_001128848;GI=SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4,SMARCA4;FC=Synonymous_D1629D,Synonymous_D1629D,Synonymous_D1661D,Synonymous_D1596D,Synonymous_D1598D,Synonymous_D1599D,Synonymous_D1595D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,20:35:99:612,0,376:58:99:0.571 chr19 11221454 rs2738442 T C 1934.84 PASS DP=73;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7331;MQ=54;MQ0=0;QD=26.50;SB=-1214.04;TI=NM_001195799,NM_000527,NM_001195803,NM_001195802,NM_001195798,NM_001195800;GI=LDLR,LDLR,LDLR,LDLR,LDLR,LDLR;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,73:73:99:1968,141,0:54:99:1.000 chr19 11221457 rs12710260 G C 1722.87 PASS DP=66;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7331;MQ=55;MQ0=0;QD=26.10;SB=-986.75;TI=NM_001195799,NM_000527,NM_001195803,NM_001195802,NM_001195798,NM_001195800;GI=LDLR,LDLR,LDLR,LDLR,LDLR,LDLR;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:66:99:1756,126,0:55:99:1.000 chr19 11224265 rs5930 A G 2273.95 PASS DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7500;MQ=56;MQ0=0;QD=30.32;SB=-1183.80;TI=NM_001195799,NM_000527,NM_001195803,NM_001195802,NM_001195798,NM_001195800;GI=LDLR,LDLR,LDLR,LDLR,LDLR,LDLR;FC=Synonymous_R430R,Synonymous_R471R,Synonymous_R344R,Synonymous_R350R,Synonymous_R471R,Synonymous_R303R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:75:99:2307,172,0:56:99:1.000 chr19 11227602 rs688 C T 4299.87 PASS DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3882;MQ=53;MQ0=0;QD=25.44;SB=-3158.21;TI=NM_001195799,NM_000527,NM_001195803,NM_001195802,NM_001195798,NM_001195800;GI=LDLR,LDLR,LDLR,LDLR,LDLR,LDLR;FC=Synonymous_N550N,Synonymous_N591N,Synonymous_N464N,Synonymous_N470N,Synonymous_N591N,Synonymous_N423N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:169:99:4300,307,0:53:99:1.000 chr19 11230881 rs5925 T C 2346.72 PASS DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=30.88;SB=-1312.50;TI=NM_001195799,NM_000527,NM_001195803,NM_001195802,NM_001195798,NM_001195800;GI=LDLR,LDLR,LDLR,LDLR,LDLR,LDLR;FC=Synonymous_V612V,Synonymous_V653V,Synonymous_V526V,Synonymous_V532V,Synonymous_V653V,Synonymous_V485V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:76:99:2380,178,0:55:99:1.000 chr19 11233941 rs5927 A G 2755.60 PASS DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.00;SB=-1781.97;TI=NM_001195799,NM_000527,NM_001195803,NM_001195802,NM_001195798,NM_001195800;GI=LDLR,LDLR,LDLR,LDLR,LDLR,LDLR;FC=Synonymous_R703R,Synonymous_R744R,Synonymous_R566R,Synonymous_R623R,Synonymous_R744R,Synonymous_R576R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:106:99:2789,199,0:53:99:1.000 chr19 11313256 rs3745682 G A 2000.87 PASS BaseQRankSum=-0.120;DP=167;Dels=0.00;FS=1.241;HRun=0;HaplotypeScore=15.8636;MQ=53;MQ0=0;MQRankSum=0.294;QD=11.98;ReadPosRankSum=-0.799;SB=-1243.59;TI=NM_020812;GI=DOCK6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,87:167:99:2031,0,1894:53:99:0.524 chr19 11319491 rs8409 G A 1163.40 PASS BaseQRankSum=1.507;DP=83;Dels=0.00;FS=2.944;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=1.945;QD=14.02;ReadPosRankSum=1.225;SB=-590.41;TI=NM_020812;GI=DOCK6;FC=Synonymous_N1653N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,42:83:99:1193,0,932:53:99:0.506 chr19 11324965 rs34243815 C T 829.34 PASS BaseQRankSum=1.428;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5055;MQ=52;MQ0=0;MQRankSum=0.347;QD=11.85;ReadPosRankSum=-0.535;SB=-397.68;TI=NM_020812;GI=DOCK6;FC=Missense_A1442T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,34:70:99:859,0,850:52:99:0.486 chr19 11326119 rs2304155 A G 1311.08 PASS BaseQRankSum=2.478;DP=151;Dels=0.00;FS=2.136;HRun=0;HaplotypeScore=2.6548;MQ=52;MQ0=0;MQRankSum=-0.344;QD=8.68;ReadPosRankSum=-0.762;SB=-858.16;TI=NM_020812;GI=DOCK6;FC=Synonymous_N1350N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,57:151:99:1341,0,2055:52:99:0.377 chr19 11326125 rs2304154 C T 1348.40 PASS BaseQRankSum=2.281;DP=153;Dels=0.00;FS=2.100;HRun=0;HaplotypeScore=3.6464;MQ=52;MQ0=0;MQRankSum=-0.250;QD=8.81;ReadPosRankSum=-0.592;SB=-843.82;TI=NM_020812;GI=DOCK6;FC=Synonymous_P1348P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,58:153:99:1378,0,2103:52:99:0.379 chr19 11327608 rs4804151 T C 2374.68 PASS BaseQRankSum=3.290;DP=239;Dels=0.00;FS=1.036;HRun=1;HaplotypeScore=8.0194;MQ=55;MQ0=0;MQRankSum=4.276;QD=9.94;ReadPosRankSum=-0.099;SB=-1419.61;TI=NM_020812;GI=DOCK6;FC=Synonymous_L1292L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:132,107:239:99:2405,0,3057:55:99:0.448 chr19 11327626 rs4804152 A G 2568.02 PASS BaseQRankSum=3.824;DP=255;Dels=0.00;FS=3.573;HRun=0;HaplotypeScore=8.1686;MQ=54;MQ0=0;MQRankSum=2.962;QD=10.07;ReadPosRankSum=0.675;SB=-1697.21;TI=NM_020812;GI=DOCK6;FC=Synonymous_D1286D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,114:255:99:2598,0,3308:54:99:0.447 chr19 11358799 rs12978266 G A 1603.23 PASS BaseQRankSum=1.736;DP=159;Dels=0.00;FS=0.596;HRun=0;HaplotypeScore=11.3422;MQ=55;MQ0=0;MQRankSum=0.715;QD=10.08;ReadPosRankSum=-0.800;SB=-1080.30;TI=NM_020812;GI=DOCK6;FC=Missense_P250L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,70:159:99:1633,0,1887:55:99:0.446 chr19 11558340 . AGAGGAG A 1034.28 R8 BaseQRankSum=-2.260;DP=52;FS=3.064;HRun=0;HaplotypeScore=133.5973;MQ=52;MQ0=0;MQRankSum=-0.560;QD=19.89;ReadPosRankSum=0.850;SB=-499.50;TI=NM_001001329,NM_002743;GI=PRKCSH,PRKCSH;FC=2AA_Deletion,2AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,15:52:99:1073,0,1249:52:99:0.294 chr19 11727503 rs4545929 T C 1363.27 PASS BaseQRankSum=-0.372;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=56;MQ0=0;MQRankSum=0.248;QD=13.11;ReadPosRankSum=0.836;SB=-696.32;TI=NM_145295;GI=ZNF627;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,57:104:99:1393,0,1255:56:99:0.548 chr19 12768948 rs35836657 T C 999.43 PASS BaseQRankSum=1.453;DP=103;Dels=0.00;FS=2.825;HRun=0;HaplotypeScore=9.1344;MQ=53;MQ0=0;MQRankSum=1.075;QD=9.70;ReadPosRankSum=-2.964;SB=-483.14;TI=NM_001173498,NM_000528;GI=MAN2B1,MAN2B1;FC=Missense_N412S,Missense_N413S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,43:103:99:1029,0,1551:53:99:0.426 chr19 12772090 rs1133330 C T 2158.13 PASS BaseQRankSum=-0.251;DP=185;Dels=0.00;FS=0.557;HRun=0;HaplotypeScore=5.4702;MQ=52;MQ0=0;MQRankSum=2.503;QD=11.67;ReadPosRankSum=0.633;SB=-1228.42;TI=NM_001173498,NM_000528;GI=MAN2B1,MAN2B1;FC=Missense_R337Q,Missense_R337Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,91:185:99:2188,0,2194:52:99:0.492 chr19 12772165 rs1054487 G A 2313.58 PASS BaseQRankSum=0.364;DP=218;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8874;MQ=52;MQ0=0;MQRankSum=3.156;QD=10.61;ReadPosRankSum=1.234;SB=-1571.01;TI=NM_001173498,NM_000528;GI=MAN2B1,MAN2B1;FC=Missense_T312I,Missense_T312I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,110:218:99:2344,0,2323:52:99:0.505 chr19 12774208 rs1054486 G C 973.24 PASS BaseQRankSum=1.356;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.411;QD=10.58;ReadPosRankSum=0.317;SB=-672.68;TI=NM_001173498,NM_000528;GI=MAN2B1,MAN2B1;FC=Missense_L278V,Missense_L278V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,44:92:99:1003,0,1053:53:99:0.478 chr19 13008607 rs1060218 G T 1221.58 PASS BaseQRankSum=0.076;DP=103;Dels=0.00;FS=8.163;HRun=0;HaplotypeScore=7.4213;MQ=55;MQ0=0;MQRankSum=1.019;QD=11.86;ReadPosRankSum=-1.956;SB=-498.95;TI=NM_000159,NM_013976;GI=GCDH,GCDH;FC=Synonymous_G391G,Synonymous_G391G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,51:103:99:1252,0,1179:55:99:0.495 chr19 13010520 rs8012 A G 1781.05 PASS BaseQRankSum=0.637;DP=141;Dels=0.00;FS=0.627;HRun=1;HaplotypeScore=1.8939;MQ=55;MQ0=0;MQRankSum=2.131;QD=12.63;ReadPosRankSum=2.754;SB=-1115.88;TI=NM_000159,NM_013976,NM_001105578;GI=GCDH,GCDH,SYCE2;FC=Silent,Missense_Q417R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:68,73:141:99:1811,0,1718:55:99:0.518 chr19 13318672 . CCTGCTG C 369.44 R8 BaseQRankSum=-0.854;DP=25;FS=1.913;HRun=0;HaplotypeScore=46.4384;MQ=44;MQ0=0;MQRankSum=-0.352;QD=14.78;ReadPosRankSum=-0.050;SB=-198.71;TI=NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222;GI=CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A;FC=Noncoding,Noncoding,Noncoding,2AA_Deletion,2AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,5:25:99:408,0,828:44:99:0.250 chr19 13319693 rs16051 A G 510.97 PASS BaseQRankSum=1.689;DP=48;Dels=0.02;FS=1.414;HRun=5;HaplotypeScore=45.2587;MQ=51;MQ0=0;MQRankSum=-0.012;QD=10.65;ReadPosRankSum=-0.377;SB=-200.53;TI=NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222;GI=CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A;FC=Missense_S2224P,Missense_S2221P,Synonymous_H2220H,Missense_S2224P,Synonymous_H2219H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,22:47:99:541,0,453:51:99:0.512 chr19 13387904 rs16030 A G 1229.65 PASS BaseQRankSum=0.727;DP=156;Dels=0.00;FS=5.100;HRun=0;HaplotypeScore=3.6655;MQ=53;MQ0=0;MQRankSum=2.329;QD=7.88;ReadPosRankSum=2.378;SB=-829.43;TI=NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222;GI=CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A;FC=Synonymous_F1291F,Synonymous_F1288F,Synonymous_F1288F,Synonymous_F1291F,Synonymous_F1287F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,55:156:99:1260,0,2389:53:99:0.353 chr19 13409390 rs16025 C T 109.05 LowDP BaseQRankSum=-1.139;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6000;MQ=48;MQ0=0;MQRankSum=-0.813;QD=6.82;ReadPosRankSum=0.488;SB=-31.78;TI=NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222;GI=CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A;FC=Synonymous_R1023R,Synonymous_R1020R,Synonymous_R1020R,Synonymous_R1023R,Synonymous_R1019R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,6:16:99:139,0,300:48:99:0.375 chr19 13409461 . GGCCCTC G 898.52 PASS BaseQRankSum=-2.665;DP=22;FS=0.000;HRun=0;HaplotypeScore=115.7624;MQ=51;MQ0=0;MQRankSum=0.036;QD=40.84;ReadPosRankSum=0.888;SB=-232.14;TI=NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222;GI=CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A;FC=2AA_Deletion,2AA_Deletion,2AA_Deletion,2AA_Deletion,2AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,12:22:99:938,0,424:51:99:0.545 chr19 13409472 rs16023 T A 146.83 PASS BaseQRankSum=-0.651;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5004;MQ=50;MQ0=0;MQRankSum=1.147;QD=6.38;ReadPosRankSum=-0.589;SB=-99.57;TI=NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222;GI=CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A;FC=Missense_E996V,Missense_E993V,Missense_E993V,Missense_E996V,Missense_E992V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,10:23:99:177,0,365:50:99:0.435 chr19 13409696 rs16022 C G 463.65 PASS BaseQRankSum=-0.478;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8932;MQ=54;MQ0=0;MQRankSum=0.435;QD=7.36;ReadPosRankSum=1.549;SB=-227.02;TI=NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222;GI=CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A;FC=Missense_E921D,Missense_E918D,Missense_E918D,Missense_E921D,Missense_E917D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,23:63:99:494,0,1041:54:99:0.365 chr19 13414594 rs16016 C T 1580.29 PASS BaseQRankSum=1.221;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4525;MQ=50;MQ0=0;MQRankSum=0.193;QD=10.61;ReadPosRankSum=1.848;SB=-935.45;TI=NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222;GI=CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A;FC=Synonymous_T698T,Synonymous_T698T,Synonymous_T698T,Synonymous_T698T,Synonymous_T697T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,66:149:99:1610,0,1937:50:99:0.443 chr19 13445208 rs2248069 C T 2065.13 PASS DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=28.68;SB=-1119.02;TI=NM_000068,NM_001174080,NM_001127221,NM_023035,NM_001127222;GI=CACNA1A,CACNA1A,CACNA1A,CACNA1A,CACNA1A;FC=Synonymous_E394E,Synonymous_E394E,Synonymous_E394E,Synonymous_E394E,Synonymous_E394E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:2098,153,0:53:99:1.000 chr19 13947292 rs895819 T C 695.27 PASS BaseQRankSum=0.312;DP=58;Dels=0.00;FS=7.467;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=2.136;QD=11.99;ReadPosRankSum=-0.218;SB=-216.56;TI=NR_029501;GI=MIR27A;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,27:58:99:725,0,729:52:99:0.466 chr19 14040896 rs11669628 G A 739.53 PASS BaseQRankSum=0.403;DP=62;Dels=0.00;FS=1.306;HRun=0;HaplotypeScore=6.2038;MQ=58;MQ0=0;MQRankSum=-0.827;QD=11.93;ReadPosRankSum=-1.153;SB=-118.29;TI=NM_017721;GI=CC2D1A;FC=Missense_A906T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,28:62:99:770,0,977:58:99:0.452 chr19 15271771 rs1044009 G A 2271.78 PASS DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=34.42;SB=-861.24;TI=NM_000435;GI=NOTCH3;FC=Missense_A2223V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:66:99:2305,172,0:59:99:1.000 chr19 15273381 rs4809030 A G 3402.56 PASS DP=119;Dels=0.01;FS=0.000;HRun=2;HaplotypeScore=7.5422;MQ=54;MQ0=0;QD=28.59;SB=-2121.21;TI=NM_000435;GI=NOTCH3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,117:118:99:3403,247,0:54:99:1.000 chr19 15278057 rs1548555 A G 5683.06 PASS BaseQRankSum=1.147;DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9239;MQ=53;MQ0=0;MQRankSum=1.682;QD=28.42;ReadPosRankSum=1.207;SB=-2752.71;TI=NM_000435;GI=NOTCH3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,196:200:99:5683,374,0:53:99:0.985 chr19 15285052 rs1044006 T C 2635.18 PASS DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=26.89;SB=-1748.50;TI=NM_000435;GI=NOTCH3;FC=Synonymous_P1521P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:98:99:2668,190,0:56:99:1.000 chr19 15292437 rs1043997 T C 601.26 PASS BaseQRankSum=1.542;DP=57;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.7863;MQ=52;MQ0=0;MQRankSum=0.983;QD=10.55;ReadPosRankSum=-0.679;SB=-290.33;TI=NM_000435;GI=NOTCH3;FC=Synonymous_P914P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,27:57:99:631,0,805:52:99:0.474 chr19 15295134 rs1043996 G A 1877.46 PASS BaseQRankSum=2.297;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=51;MQ0=0;MQRankSum=0.072;QD=13.22;ReadPosRankSum=-0.849;SB=-1151.05;TI=NM_000435;GI=NOTCH3;FC=Synonymous_C846C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,80:142:99:1907,0,1402:51:99:0.563 chr19 15302844 rs1043994 T C 1174.16 PASS BaseQRankSum=-0.285;DP=109;Dels=0.00;FS=6.344;HRun=0;HaplotypeScore=8.2649;MQ=56;MQ0=0;MQRankSum=-0.009;QD=10.77;ReadPosRankSum=-0.494;SB=-532.45;TI=NM_000435;GI=NOTCH3;FC=Synonymous_A202A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,46:109:99:1204,0,1736:56:99:0.422 chr19 15651539 . GCC G 173.12 LowGQ;SB;LowDP DP=19;FS=0.000;HRun=5;HaplotypeScore=176.9626;MQ=34;MQ0=0;QD=9.11;SB=-0.00;TI=NM_173483;GI=CYP4F22;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:12,5:19:15.04:215,15,0:34:15:0.294 chr19 15760053 rs1053037 G A 1547.30 PASS BaseQRankSum=-2.249;DP=112;Dels=0.00;FS=1.526;HRun=0;HaplotypeScore=1.8665;MQ=51;MQ0=0;MQRankSum=2.608;QD=13.82;ReadPosRankSum=-2.660;SB=-1036.60;TI=NM_000896,NM_001199208,NM_001199209;GI=CYP4F3,CYP4F3,CYP4F3;FC=Synonymous_L203L,Synonymous_L203L,Synonymous_L203L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,64:112:99:1577,0,1059:51:99:0.571 chr19 15763691 rs1805041 G A 1761.50 PASS BaseQRankSum=2.912;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=49;MQ0=0;MQRankSum=-0.111;QD=11.22;ReadPosRankSum=-0.353;SB=-1056.55;TI=NM_000896,NM_001199208,NM_001199209;GI=CYP4F3,CYP4F3,CYP4F3;FC=Synonymous_P348P,Synonymous_P348P,Synonymous_P348P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,79:157:99:1791,0,1730:49:99:0.503 chr19 15769625 rs1915390 A G 843.09 PASS BaseQRankSum=-0.276;DP=96;Dels=0.00;FS=2.797;HRun=1;HaplotypeScore=4.7596;MQ=52;MQ0=0;MQRankSum=-1.246;QD=8.78;ReadPosRankSum=-1.320;SB=-379.62;TI=NM_000896,NM_001199208,NM_001199209;GI=CYP4F3,CYP4F3,CYP4F3;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,39:96:99:873,0,1587:52:99:0.406 chr19 15770027 rs10404649;rs55876862 A T 343.58 PASS BaseQRankSum=-0.786;DP=95;Dels=0.00;FS=1.020;HRun=0;HaplotypeScore=9.4022;MQ=49;MQ0=4;MQRankSum=-5.541;QD=3.62;ReadPosRankSum=-4.376;SB=-138.60;TI=NM_000896,NM_001199208,NM_001199209;GI=CYP4F3,CYP4F3,CYP4F3;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,27:95:99:374,0,1837:49:99:0.287 chr19 15784377 rs16995376 C T 3119.66 PASS BaseQRankSum=0.679;DP=256;Dels=0.00;FS=5.210;HRun=0;HaplotypeScore=8.3727;MQ=53;MQ0=0;MQRankSum=2.816;QD=12.19;ReadPosRankSum=1.163;SB=-1926.67;TI=NM_023944;GI=CYP4F12;FC=Missense_P13L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,137:256:99:3150,0,2973:53:99:0.535 chr19 15784386 rs16995378 C T 3218.44 PASS BaseQRankSum=1.211;DP=263;Dels=0.00;FS=0.458;HRun=0;HaplotypeScore=5.6253;MQ=54;MQ0=0;MQRankSum=2.454;QD=12.24;ReadPosRankSum=1.512;SB=-1893.47;TI=NM_023944;GI=CYP4F12;FC=Missense_T16M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:126,137:263:99:3248,0,2967:54:99:0.521 chr19 15789098 rs609636 A G 1260.82 PASS BaseQRankSum=0.654;DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=49;MQ0=0;MQRankSum=0.062;QD=9.55;ReadPosRankSum=1.397;SB=-850.71;TI=NM_023944;GI=CYP4F12;FC=Missense_N76D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,60:132:99:1291,0,1587:49:99:0.458 chr19 15789140 rs609290 A G 1480.12 PASS BaseQRankSum=3.306;DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=48;MQ0=0;MQRankSum=-0.421;QD=9.03;ReadPosRankSum=-0.657;SB=-1112.57;TI=NM_023944;GI=CYP4F12;FC=Missense_I90V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,70:164:99:1510,0,2096:48:99:0.427 chr19 15793235 rs2285888;rs79526533 T C 1107.06 PASS BaseQRankSum=0.889;DP=132;Dels=0.00;FS=0.685;HRun=0;HaplotypeScore=3.5764;MQ=52;MQ0=7;MQRankSum=-0.018;QD=8.39;ReadPosRankSum=3.016;SB=-744.52;TI=NM_023944;GI=CYP4F12;FC=Missense_C188R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,57:132:99:1137,0,1926:52:99:0.432 chr19 15807305 rs688755 T C 1234.36 PASS BaseQRankSum=-0.809;DP=83;Dels=0.00;FS=4.360;HRun=2;HaplotypeScore=8.4398;MQ=48;MQ0=0;MQRankSum=-0.426;QD=14.87;ReadPosRankSum=0.809;SB=-707.23;TI=NM_023944;GI=CYP4F12;FC=Synonymous_P460P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,51:83:99:1264,0,777:48:99:0.614 chr19 15807830 rs593421 T C 2486.36 PASS BaseQRankSum=2.976;DP=209;Dels=0.00;FS=1.697;HRun=0;HaplotypeScore=5.6477;MQ=59;MQ0=0;MQRankSum=-0.144;QD=11.90;ReadPosRankSum=-0.183;SB=-1426.78;TI=NM_023944;GI=CYP4F12;FC=Synonymous_L504L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,92:209:99:2516,0,3259:59:99:0.440 chr19 15807884 rs593818 A G 3628.50 PASS BaseQRankSum=2.496;DP=269;Dels=0.00;FS=0.954;HRun=1;HaplotypeScore=14.7241;MQ=55;MQ0=0;MQRankSum=-2.370;QD=13.49;ReadPosRankSum=-1.783;SB=-2068.42;TI=NM_023944;GI=CYP4F12;FC=Missense_S522G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,144:269:99:3628,0,3389:55:99:0.535 chr19 15989696 rs3952537 G C 157.37 LowVariantFreq;SB BaseQRankSum=1.065;DP=222;Dels=0.00;FS=4.602;HRun=2;HaplotypeScore=6.5008;MQ=48;MQ0=3;MQRankSum=-4.722;QD=0.71;ReadPosRankSum=-0.341;SB=-0.01;TI=NM_001082;GI=CYP4F2;FC=Missense_A483G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:194,27:222:99:187,0,4599:48:99:0.122 chr19 15989730 rs4020346 T C 283.32 LowVariantFreq BaseQRankSum=0.493;DP=169;Dels=0.00;FS=1.833;HRun=1;HaplotypeScore=4.6754;MQ=50;MQ0=3;MQRankSum=-5.478;QD=1.68;ReadPosRankSum=2.148;SB=-171.97;TI=NM_001082;GI=CYP4F2;FC=Missense_T472A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:137,32:169:99:313,0,3639:50:99:0.189 chr19 15990431 rs2108622 C T 1793.13 PASS BaseQRankSum=0.960;DP=128;Dels=0.00;FS=7.046;HRun=0;HaplotypeScore=10.8895;MQ=54;MQ0=0;MQRankSum=0.141;QD=14.01;ReadPosRankSum=-2.606;SB=-962.82;TI=NM_001082;GI=CYP4F2;FC=Missense_V433M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,70:128:99:1823,0,1682:54:99:0.547 chr19 16006413 rs3093114 G A 2679.09 PASS BaseQRankSum=-0.488;DP=228;Dels=0.00;FS=1.625;HRun=0;HaplotypeScore=11.1027;MQ=54;MQ0=0;MQRankSum=3.294;QD=11.75;ReadPosRankSum=1.531;SB=-1574.89;TI=NM_001082;GI=CYP4F2;FC=Synonymous_A82A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,111:228:99:2709,0,2811:54:99:0.489 chr19 16008257 rs3093106 T C 1042.53 PASS BaseQRankSum=2.481;DP=98;Dels=0.00;FS=1.709;HRun=0;HaplotypeScore=3.5933;MQ=56;MQ0=0;MQRankSum=-0.285;QD=10.64;ReadPosRankSum=-0.727;SB=-598.40;TI=NM_001082;GI=CYP4F2;FC=Synonymous_P55P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,45:98:99:1073,0,1334:56:99:0.459 chr19 16008388 rs3093105 A C 828.75 PASS BaseQRankSum=1.655;DP=75;Dels=0.00;FS=8.090;HRun=2;HaplotypeScore=3.8869;MQ=57;MQ0=0;MQRankSum=0.686;QD=11.05;ReadPosRankSum=0.112;SB=-353.54;TI=NM_001082;GI=CYP4F2;FC=Missense_W12G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,34:75:99:859,0,1252:57:99:0.453 chr19 16591464 rs9305079 G A 642.95 PASS BaseQRankSum=0.448;DP=84;Dels=0.00;FS=1.933;HRun=0;HaplotypeScore=3.6796;MQ=51;MQ0=0;MQRankSum=1.950;QD=7.65;ReadPosRankSum=1.738;SB=-398.84;TI=NM_145046;GI=CALR3;FC=Synonymous_Y324Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,28:84:99:673,0,1300:51:99:0.337 chr19 16593573 rs10403020 G A 1558.73 PASS BaseQRankSum=1.565;DP=138;Dels=0.00;FS=3.136;HRun=0;HaplotypeScore=1.7608;MQ=55;MQ0=0;MQRankSum=1.190;QD=11.30;ReadPosRankSum=0.023;SB=-1011.81;TI=NM_145046;GI=CALR3;FC=Synonymous_D234D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,68:138:99:1589,0,1719:55:99:0.493 chr19 16601168 rs3810197 G A 351.88 PASS BaseQRankSum=1.511;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=1.011;QD=8.58;ReadPosRankSum=-0.512;SB=-204.11;TI=NM_145046;GI=CALR3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,18:41:99:382,0,615:57:99:0.439 chr19 16601194 rs3810198 C T 913.65 PASS BaseQRankSum=-0.991;DP=75;Dels=0.00;FS=2.010;HRun=1;HaplotypeScore=1.9971;MQ=53;MQ0=0;MQRankSum=1.107;QD=12.18;ReadPosRankSum=1.796;SB=-382.93;TI=NM_145046;GI=CALR3;FC=Synonymous_Q127Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,38:75:99:944,0,890:53:99:0.507 chr19 17212992 rs3745349 C T 1146.79 PASS BaseQRankSum=0.776;DP=74;Dels=0.00;FS=5.137;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.407;QD=15.50;ReadPosRankSum=0.515;SB=-447.39;TI=NM_001130065,NM_004145;GI=MYO9B,MYO9B;FC=Synonymous_P155P,Synonymous_P155P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,40:74:99:1177,0,929:57:99:0.541 chr19 17273893 rs7256689 G T 3230.05 PASS DP=113;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=28.58;SB=-2143.20;TI=NM_001130065,NM_004145;GI=MYO9B,MYO9B;FC=Synonymous_L544L,Synonymous_L544L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3263,238,0:51:99:1.000 chr19 17283657 rs2279006 C T 1273.91 PASS BaseQRankSum=-0.833;DP=134;Dels=0.00;FS=1.405;HRun=1;HaplotypeScore=8.1720;MQ=54;MQ0=0;MQRankSum=-1.233;QD=9.51;ReadPosRankSum=-1.431;SB=-741.75;TI=NM_001130065,NM_004145;GI=MYO9B,MYO9B;FC=Synonymous_I675I,Synonymous_I675I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,57:134:99:1304,0,1905:54:99:0.425 chr19 17303774 rs1545620 T G 3054.90 PASS BaseQRankSum=1.665;DP=245;Dels=0.00;FS=1.558;HRun=0;HaplotypeScore=7.9189;MQ=54;MQ0=0;MQRankSum=1.285;QD=12.47;ReadPosRankSum=-1.602;SB=-1765.23;TI=NM_001130065,NM_004145;GI=MYO9B,MYO9B;FC=Missense_S1011A,Missense_S1011A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,123:245:99:3085,0,2921:54:99:0.502 chr19 17305440 rs1064305 T C 1003.71 PASS BaseQRankSum=1.265;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=54;MQ0=0;MQRankSum=1.303;QD=14.98;ReadPosRankSum=-1.023;SB=-616.20;TI=NM_001130065,NM_004145;GI=MYO9B,MYO9B;FC=Synonymous_G1068G,Synonymous_G1068G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,39:67:99:1034,0,720:54:99:0.582 chr19 17306031 rs2279003 T C 515.45 PASS BaseQRankSum=1.553;DP=65;Dels=0.00;FS=5.332;HRun=4;HaplotypeScore=28.1848;MQ=53;MQ0=0;MQRankSum=-0.700;QD=7.93;ReadPosRankSum=-2.589;SB=-259.22;TI=NM_001130065,NM_004145;GI=MYO9B,MYO9B;FC=Synonymous_P1265P,Synonymous_P1265P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,23:65:99:545,0,1179:53:99:0.359 chr19 17311442 rs2305766 C G 1689.09 PASS BaseQRankSum=-0.061;DP=133;Dels=0.00;FS=4.903;HRun=0;HaplotypeScore=6.2546;MQ=55;MQ0=0;MQRankSum=-0.232;QD=12.70;ReadPosRankSum=0.232;SB=-604.59;TI=NM_001130065,NM_004145;GI=MYO9B,MYO9B;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,66:133:99:1719,0,1810:55:99:0.496 chr19 17312992 rs2305765 C T 384.29 PASS BaseQRankSum=-0.570;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8780;MQ=55;MQ0=0;MQRankSum=0.219;QD=10.11;ReadPosRankSum=-0.979;SB=-228.37;TI=NM_001130065,NM_004145;GI=MYO9B,MYO9B;FC=Synonymous_V1572V,Synonymous_V1572V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,18:38:99:414,0,543:55:99:0.474 chr19 17316782 rs7248508 T C 1312.84 PASS BaseQRankSum=0.038;DP=135;Dels=0.00;FS=7.074;HRun=0;HaplotypeScore=16.0139;MQ=53;MQ0=0;MQRankSum=2.277;QD=9.72;ReadPosRankSum=0.571;SB=-452.39;TI=NM_001130065,NM_004145;GI=MYO9B,MYO9B;FC=Missense_V1693A,Missense_V1693A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,55:135:99:1343,0,1965:53:99:0.407 chr19 17317955 rs8110964 A G 1599.23 PASS BaseQRankSum=1.445;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=53;MQ0=0;MQRankSum=2.082;QD=13.22;ReadPosRankSum=-0.345;SB=-1169.79;TI=NM_001130065,NM_004145;GI=MYO9B,MYO9B;FC=Synonymous_S1842S,Synonymous_S1842S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,71:121:99:1629,0,1113:53:99:0.587 chr19 17922795 rs36686 G A 1410.97 PASS DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.80;SB=-844.67;TI=NM_014256;GI=B3GNT3;FC=Missense_R328H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:49:99:1444,105,0:57:99:1.000 chr19 17932138 rs6523 T C 1180.82 PASS DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2038;MQ=54;MQ0=0;QD=29.52;SB=-663.15;TI=NM_005543;GI=INSL3;FC=Missense_T60A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,39:40:90.29:1214,90,0:54:90:1.000 chr19 17932190 rs1047233 T C 1256.75 PASS DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=30.65;SB=-775.91;TI=NM_005543;GI=INSL3;FC=Synonymous_L42L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:41:96.31:1290,96,0:53:96:1.000 chr19 18272190 rs2241088 A C 247.40 LowGQ;SB;LowDP DP=7;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=35.34;SB=-0.01;TI=NM_005027;GI=PIK3R2;FC=Missense_S234R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,7:7:21.07:280,21,0:60:21:1.000 chr19 18273047 rs1011320 T C 5114.31 PASS DP=177;Dels=0.01;FS=0.000;HRun=2;HaplotypeScore=15.4723;MQ=54;MQ0=0;QD=28.89;SB=-3220.09;TI=NM_005027;GI=PIK3R2;FC=Missense_S313P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,175:175:99:5114,373,0:54:99:1.000 chr19 18279638 rs273269 T C 7372.87 PASS DP=268;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7065;MQ=53;MQ0=0;QD=27.51;SB=-4942.23;TI=NM_005027;GI=PIK3R2;FC=Synonymous_S637S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,268:268:99:7373,533,0:53:99:1.000 chr19 18280096 . G A 644.84 PASS BaseQRankSum=0.456;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6527;MQ=53;MQ0=0;MQRankSum=0.204;QD=12.64;ReadPosRankSum=-2.068;SB=-242.84;TI=NM_005027;GI=PIK3R2;FC=Missense_A727T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,26:51:99:675,0,622:53:99:0.520 chr19 18284651 rs2241089 G T 2386.89 PASS BaseQRankSum=-0.860;DP=202;Dels=0.00;FS=0.527;HRun=0;HaplotypeScore=8.0114;MQ=54;MQ0=0;MQRankSum=0.639;QD=11.82;ReadPosRankSum=-0.224;SB=-1431.44;TI=NM_006332;GI=IFI30;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,100:202:99:2417,0,2433:54:99:0.498 chr19 18288069 rs7125 A G 6082.31 PASS DP=228;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4156;MQ=52;MQ0=0;QD=26.68;SB=-4176.21;TI=NM_006332;GI=IFI30;FC=Synonymous_P201P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,228:228:99:6082,433,0:52:99:1.000 chr19 18497024 rs1059519 G C 3088.99 PASS DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1501;MQ=52;MQ0=0;QD=29.99;SB=-1209.05;TI=NM_004864;GI=GDF15;FC=Missense_V9L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,103:103:99:3122,229,0:52:99:1.000 chr19 18497141 rs1059369 T A 1512.41 PASS BaseQRankSum=0.858;DP=108;Dels=0.00;FS=0.733;HRun=0;HaplotypeScore=8.1582;MQ=58;MQ0=0;MQRankSum=-2.302;QD=14.00;ReadPosRankSum=-0.383;SB=-907.58;TI=NM_004864;GI=GDF15;FC=Missense_S48T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,59:108:99:1542,0,1257:58:99:0.546 chr19 18499238 rs1804826 G T 590.55 PASS BaseQRankSum=0.479;DP=54;Dels=0.00;FS=8.221;HRun=0;HaplotypeScore=4.3882;MQ=58;MQ0=0;MQRankSum=1.100;QD=10.94;ReadPosRankSum=0.621;SB=-290.23;TI=NM_004864;GI=GDF15;FC=Synonymous_P140P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,21:54:99:621,0,859:58:99:0.389 chr19 18499422 rs1058587 C G 612.76 PASS BaseQRankSum=0.103;DP=45;Dels=0.00;FS=1.143;HRun=0;HaplotypeScore=3.4596;MQ=56;MQ0=0;MQRankSum=1.816;QD=13.62;ReadPosRankSum=0.971;SB=-318.80;TI=NM_004864;GI=GDF15;FC=Missense_H202D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,20:45:99:643,0,667:56:99:0.444 chr19 18545786 rs1045631 G T 3042.51 PASS DP=111;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.3811;MQ=55;MQ0=0;QD=27.41;SB=-1945.10;TI=NM_001170939,NM_016368,NM_001170938;GI=ISYNA1,ISYNA1,ISYNA1;FC=Synonymous_T388T,Synonymous_T538T,Synonymous_T484T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,111:111:99:3076,220,0:55:99:1.000 chr19 18546678 rs2303697 T C 1795.86 PASS DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7061;MQ=57;MQ0=0;QD=34.54;SB=-297.93;TI=NM_001170939,NM_016368,NM_001170938;GI=ISYNA1,ISYNA1,ISYNA1;FC=Synonymous_L193L,Synonymous_L343L,Synonymous_L289L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:99:1829,135,0:57:99:1.000 chr19 18710535 rs2238647 G A 2997.88 PASS BaseQRankSum=1.592;DP=200;Dels=0.00;FS=5.024;HRun=0;HaplotypeScore=7.3940;MQ=55;MQ0=0;MQRankSum=2.703;QD=14.99;ReadPosRankSum=-1.055;SB=-1823.23;TI=NM_004750;GI=CRLF1;FC=Synonymous_N79N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,113:200:99:3028,0,2151:55:99:0.565 chr19 18980172 rs4808863 G A 477.73 PASS BaseQRankSum=1.484;DP=21;Dels=0.00;FS=2.520;HRun=0;HaplotypeScore=4.4696;MQ=53;MQ0=0;MQRankSum=0.000;QD=22.75;ReadPosRankSum=-0.524;SB=-94.60;TI=NM_001492,NM_021267;GI=GDF1,LASS1;FC=Missense_A118V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,15:21:79.02:508,0,79:53:79:0.750 chr19 19304899 rs34282046 G C 1264.18 PASS BaseQRankSum=0.124;DP=123;Dels=0.00;FS=2.341;HRun=2;HaplotypeScore=4.4430;MQ=48;MQ0=0;MQRankSum=1.331;QD=10.28;ReadPosRankSum=-0.424;SB=-845.95;TI=NM_134440,NM_003721;GI=RFXANK,RFXANK;FC=Missense_E48D,Missense_E48D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,57:123:99:1294,0,1471:48:99:0.463 chr19 19307797 rs72997200 C T 680.45 PASS BaseQRankSum=0.478;DP=64;Dels=0.00;FS=3.442;HRun=0;HaplotypeScore=2.6548;MQ=54;MQ0=0;MQRankSum=1.366;QD=10.63;ReadPosRankSum=-1.043;SB=-432.50;TI=NM_134440,NM_003721;GI=RFXANK,RFXANK;FC=Synonymous_T70T,Synonymous_T71T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,30:64:99:710,0,834:54:99:0.469 chr19 19359500 rs10423874 C G 756.92 PASS BaseQRankSum=1.328;DP=66;Dels=0.00;FS=2.130;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=-0.879;QD=11.47;ReadPosRankSum=-0.532;SB=-443.49;TI=NM_004386;GI=NCAN;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,32:66:99:787,0,889:55:99:0.485 chr19 30190389 . CAAA C 1605.34 R8 BaseQRankSum=-2.686;DP=61;FS=1.948;HRun=14;HaplotypeScore=246.3142;MQ=50;MQ0=0;MQRankSum=0.889;QD=26.32;ReadPosRankSum=-0.555;SB=-132.96;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,35:61:99:1644,0,554:50:99:0.714 chr19 30190522 rs35973369 A AC 3827.72 PASS BaseQRankSum=2.698;DP=206;FS=1.077;HRun=0;HaplotypeScore=232.7111;MQ=56;MQ0=0;MQRankSum=4.171;QD=18.58;ReadPosRankSum=-0.693;SB=-1867.94;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,92:206:99:3828,0,4146:56:99:0.447 chr19 30190658 rs10417597 A G 2069.26 PASS BaseQRankSum=0.618;DP=137;Dels=0.00;FS=2.274;HRun=2;HaplotypeScore=5.6310;MQ=55;MQ0=0;MQRankSum=3.675;QD=15.10;ReadPosRankSum=2.004;SB=-772.22;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,70:137:99:2099,0,1884:55:99:0.511 chr19 30190828 . G GA 2810.23 PASS BaseQRankSum=-0.176;DP=179;FS=2.662;HRun=4;HaplotypeScore=78.4156;MQ=58;MQ0=0;MQRankSum=0.207;QD=15.70;ReadPosRankSum=-0.943;SB=-1375.70;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,89:179:99:2849,0,2637:58:99:0.497 chr19 30191519 rs74854677 C A 2851.97 PASS BaseQRankSum=2.625;DP=226;Dels=0.00;FS=5.640;HRun=0;HaplotypeScore=17.2381;MQ=56;MQ0=0;MQRankSum=-0.479;QD=12.62;ReadPosRankSum=-1.212;SB=-1291.45;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,110:226:99:2882,0,3265:56:99:0.487 chr19 30191933 rs7255131 A G 3049.80 PASS BaseQRankSum=0.782;DP=237;Dels=0.00;FS=3.734;HRun=1;HaplotypeScore=8.2581;MQ=57;MQ0=0;MQRankSum=3.012;QD=12.87;ReadPosRankSum=0.666;SB=-1519.54;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:128,109:237:99:3080,0,3511:57:99:0.460 chr19 30192475 rs9566 G A 5807.54 PASS BaseQRankSum=2.100;DP=456;Dels=0.00;FS=4.059;HRun=0;HaplotypeScore=20.0016;MQ=54;MQ0=0;MQRankSum=4.472;QD=12.74;ReadPosRankSum=0.855;SB=-3648.43;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:218,238:456:99:5808,0,5281:54:99:0.522 chr19 30192505 rs1048123 G C 4181.08 PASS BaseQRankSum=2.528;DP=325;Dels=0.00;FS=0.419;HRun=0;HaplotypeScore=14.4111;MQ=55;MQ0=0;MQRankSum=1.792;QD=12.86;ReadPosRankSum=2.262;SB=-1938.29;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:169,155:325:99:4181,0,4234:55:99:0.478 chr19 30192599 rs1140197 G T 965.23 PASS BaseQRankSum=0.313;DP=92;Dels=0.03;FS=2.890;HRun=10;HaplotypeScore=15.5066;MQ=57;MQ0=0;MQRankSum=1.099;QD=10.49;ReadPosRankSum=-0.380;SB=-458.15;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,36:89:99:995,0,1455:57:99:0.404 chr19 30192738 rs3926 C T 1280.54 PASS BaseQRankSum=-1.047;DP=89;Dels=0.00;FS=4.429;HRun=0;HaplotypeScore=0.9998;MQ=57;MQ0=0;MQRankSum=0.398;QD=14.39;ReadPosRankSum=-0.907;SB=-355.22;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,43:89:99:1311,0,1332:57:99:0.483 chr19 30193182 rs1048104 G C 1852.05 PASS BaseQRankSum=1.699;DP=152;Dels=0.00;FS=7.579;HRun=0;HaplotypeScore=7.2140;MQ=56;MQ0=0;MQRankSum=1.356;QD=12.18;ReadPosRankSum=0.634;SB=-1055.44;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,77:152:99:1882,0,1966:56:99:0.507 chr19 30193721 rs10424582 G A 1890.56 PASS BaseQRankSum=-0.141;DP=154;Dels=0.00;FS=1.430;HRun=0;HaplotypeScore=8.0920;MQ=58;MQ0=0;MQRankSum=1.515;QD=12.28;ReadPosRankSum=-1.863;SB=-564.53;TI=NM_001031726,NM_031448;GI=C19orf12,C19orf12;FC=Synonymous_T119T,Synonymous_T108T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,68:154:99:1921,0,2443:58:99:0.444 chr19 33167455 rs259290 G T 479.66 PASS BaseQRankSum=-1.339;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59;MQ0=0;MQRankSum=2.302;QD=15.47;ReadPosRankSum=0.377;SB=-174.82;TI=NM_207391;GI=RGS9BP;FC=Missense_A96S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,17:31:99:510,0,389:59:99:0.567 chr19 33167614 . G C 1468.09 PASS BaseQRankSum=0.736;DP=123;Dels=0.00;FS=3.346;HRun=0;HaplotypeScore=7.1131;MQ=57;MQ0=0;MQRankSum=-0.028;QD=11.94;ReadPosRankSum=-0.564;SB=-928.90;TI=NM_207391;GI=RGS9BP;FC=Missense_E149Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,63:123:99:1498,0,1546:57:99:0.512 chr19 33167879 rs259291 G A 134.20 SB;LowDP BaseQRankSum=-0.361;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9998;MQ=57;MQ0=0;MQRankSum=0.361;QD=14.91;ReadPosRankSum=-0.361;SB=-0.01;TI=NM_207391;GI=RGS9BP;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,5:9:99:164,0,135:57:99:0.556 chr19 33482821 rs79314177 G A 791.78 PASS BaseQRankSum=0.229;DP=75;Dels=0.00;FS=1.915;HRun=0;HaplotypeScore=2.7565;MQ=54;MQ0=0;MQRankSum=0.261;QD=10.56;ReadPosRankSum=-0.069;SB=-459.98;TI=NM_033103;GI=RHPN2;FC=Missense_R518C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,33:75:99:822,0,989:54:99:0.440 chr19 33487071 rs12610600 G T 3448.86 PASS BaseQRankSum=2.815;DP=270;Dels=0.00;FS=0.451;HRun=1;HaplotypeScore=12.8955;MQ=52;MQ0=2;MQRankSum=-1.201;QD=12.77;ReadPosRankSum=-2.626;SB=-2079.47;TI=NM_033103;GI=RHPN2;FC=Synonymous_A427A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:126,143:270:99:3449,0,3115:52:99:0.532 chr19 33490488 rs12608926 G A 550.99 PASS BaseQRankSum=-0.269;DP=124;Dels=0.00;FS=9.049;HRun=0;HaplotypeScore=35.7136;MQ=48;MQ0=6;MQRankSum=2.287;QD=4.44;ReadPosRankSum=1.198;SB=-172.83;TI=NM_033103;GI=RHPN2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,27:124:99:581,0,2044:48:99:0.218 chr19 33490566 rs74582927 T C 401.75 PASS BaseQRankSum=2.146;DP=155;Dels=0.00;FS=1.670;HRun=1;HaplotypeScore=1.9832;MQ=46;MQ0=15;MQRankSum=-1.358;QD=2.59;ReadPosRankSum=0.917;SB=-277.41;TI=NM_033103;GI=RHPN2;FC=Missense_Q384R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,33:155:99:432,0,2738:46:99:0.213 chr19 33490616 . A T 253.73 PASS BaseQRankSum=0.792;DP=93;Dels=0.00;FS=2.220;HRun=0;HaplotypeScore=9.3252;MQ=49;MQ0=1;MQRankSum=-2.564;QD=2.73;ReadPosRankSum=-4.099;SB=-96.04;TI=NM_033103;GI=RHPN2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,19:93:99:284,0,1842:49:99:0.204 chr19 33498978 rs2163807 A G 2387.12 PASS BaseQRankSum=1.968;DP=198;Dels=0.00;FS=3.245;HRun=0;HaplotypeScore=6.3055;MQ=49;MQ0=0;MQRankSum=-2.223;QD=12.06;ReadPosRankSum=-2.148;SB=-1566.44;TI=NM_033103;GI=RHPN2;FC=Synonymous_C234C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,110:198:99:2417,0,2144:49:99:0.556 chr19 33499071 rs10410414 G A 1935.28 PASS BaseQRankSum=1.469;DP=178;Dels=0.00;FS=2.668;HRun=0;HaplotypeScore=32.1416;MQ=46;MQ0=0;MQRankSum=-4.381;QD=10.87;ReadPosRankSum=0.662;SB=-1229.18;TI=NM_033103;GI=RHPN2;FC=Synonymous_T203T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,86:178:99:1965,0,2147:46:99:0.486 chr19 33502714 rs2288854 A G 941.02 PASS BaseQRankSum=1.131;DP=73;Dels=0.00;FS=2.051;HRun=0;HaplotypeScore=0.9973;MQ=58;MQ0=0;MQRankSum=1.197;QD=12.89;ReadPosRankSum=0.006;SB=-480.69;TI=NM_033103;GI=RHPN2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,37:73:99:971,0,894:58:99:0.507 chr19 33702245 rs2241378 A G 4006.86 PASS DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=52;MQ0=0;QD=29.04;SB=-2553.91;TI=NM_019849;GI=SLC7A10;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,138:138:99:4007,289,0:52:99:1.000 chr19 35524824 rs55742440 T C 654.31 PASS BaseQRankSum=0.237;DP=69;Dels=0.00;FS=3.429;HRun=1;HaplotypeScore=3.9811;MQ=57;MQ0=0;MQRankSum=-0.802;QD=9.48;ReadPosRankSum=1.495;SB=-301.69;TI=NM_199037,NM_001037;GI=SCN1B,SCN1B;FC=Missense_L210P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,24:69:99:684,0,1226:57:99:0.353 chr19 35524939 rs67701503;rs67704371 C A 1779.24 PASS BaseQRankSum=0.220;DP=162;Dels=0.00;FS=0.587;HRun=0;HaplotypeScore=2.6274;MQ=53;MQ0=0;MQRankSum=0.274;QD=10.98;ReadPosRankSum=0.123;SB=-1089.49;TI=NM_199037,NM_001037;GI=SCN1B,SCN1B;FC=Missense_S248R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,74:162:99:1809,0,2300:53:99:0.457 chr19 35524944 rs67486287;rs67486288 G C 1749.66 PASS BaseQRankSum=2.449;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=54;MQ0=0;MQRankSum=-0.581;QD=10.67;ReadPosRankSum=0.277;SB=-1131.93;TI=NM_199037,NM_001037;GI=SCN1B,SCN1B;FC=Missense_R250T,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,75:164:99:1780,0,2279:54:99:0.457 chr19 35842992 . G A 4213.21 PASS BaseQRankSum=2.551;DP=343;Dels=0.00;FS=1.804;HRun=0;HaplotypeScore=23.1042;MQ=56;MQ0=0;MQRankSum=1.710;QD=12.28;ReadPosRankSum=0.368;SB=-2702.79;TI=NM_005303;GI=FFAR1;FC=Missense_G180S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:167,174:343:99:4213,0,4359:56:99:0.510 chr19 35843086 rs2301151 G A 8352.87 PASS DP=257;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1981;MQ=57;MQ0=0;QD=32.50;SB=-3189.42;TI=NM_005303;GI=FFAR1;FC=Missense_R211H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,257:257:99:8353,626,0:57:99:1.000 chr19 36142187 rs7991 C T 936.07 PASS BaseQRankSum=-1.322;DP=87;Dels=0.00;FS=1.783;HRun=0;HaplotypeScore=2.7714;MQ=53;MQ0=0;MQRankSum=-1.934;QD=10.76;ReadPosRankSum=-0.098;SB=-582.95;TI=NM_001863;GI=COX6B1;FC=Synonymous_T14T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,41:87:99:966,0,1086:53:99:0.471 chr19 36322270 rs2071327 C T 2159.90 PASS BaseQRankSum=-0.236;DP=159;Dels=0.00;FS=1.280;HRun=0;HaplotypeScore=7.1416;MQ=52;MQ0=0;MQRankSum=2.957;QD=13.58;ReadPosRankSum=-0.016;SB=-949.14;TI=NM_004646;GI=NPHS1;FC=Synonymous_S1105S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,80:159:99:2190,0,2045:52:99:0.503 chr19 36342212 rs3814995 C T 1445.96 PASS BaseQRankSum=0.888;DP=98;Dels=0.00;FS=3.902;HRun=1;HaplotypeScore=0.9159;MQ=54;MQ0=0;MQRankSum=2.978;QD=14.75;ReadPosRankSum=-1.138;SB=-645.37;TI=NM_004646;GI=NPHS1;FC=Missense_E117K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,55:98:99:1476,0,1010:54:99:0.561 chr19 36486445 rs7249826 G C 2692.03 PASS DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.1858;MQ=53;MQ0=0;QD=27.19;SB=-1547.11;TI=NM_001042631;GI=SDHAF1;FC=Missense_C90S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:99:99:2725,202,0:53:99:1.000 chr19 36486509 rs76336581 C G 768.11 PASS BaseQRankSum=1.518;DP=47;Dels=0.00;FS=2.835;HRun=1;HaplotypeScore=5.2203;MQ=57;MQ0=0;MQRankSum=0.057;QD=16.34;ReadPosRankSum=-0.126;SB=-336.96;TI=NM_001042631;GI=SDHAF1;FC=Synonymous_R111R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,32:47:99:798,0,391:57:99:0.681 chr19 36549684 rs61742664 G A 3354.00 PASS BaseQRankSum=-1.145;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=51;MQ0=0;MQRankSum=-0.084;QD=27.05;ReadPosRankSum=0.419;SB=-2250.58;TI=NM_173636,NM_001083961;GI=WDR62,WDR62;FC=Synonymous_V60V,Synonymous_V60V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,123:124:99:3354,206,0:51:99:0.992 chr19 36593915 rs61741470 T G 2831.81 PASS BaseQRankSum=1.166;DP=211;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=17.1306;MQ=54;MQ0=0;MQRankSum=1.950;QD=13.42;ReadPosRankSum=0.838;SB=-1857.00;TI=NM_173636,NM_001083961;GI=WDR62,WDR62;FC=Missense_M1129R,Missense_M1134R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,116:211:99:2862,0,2348:54:99:0.558 chr19 36594369 rs45470992 C T 1845.47 PASS BaseQRankSum=1.204;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.2247;MQ=51;MQ0=0;MQRankSum=-0.083;QD=11.18;ReadPosRankSum=-2.295;SB=-951.55;TI=NM_173636,NM_001083961;GI=WDR62,WDR62;FC=Synonymous_S1208S,Synonymous_S1213S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:88,77:165:99:1875,0,2187:51:99:0.467 chr19 36594659 rs2074435 A T 2345.34 PASS BaseQRankSum=-0.112;DP=77;Dels=0.00;FS=2.920;HRun=0;HaplotypeScore=1.8606;MQ=57;MQ0=0;MQRankSum=1.553;QD=30.46;ReadPosRankSum=0.496;SB=-1210.53;TI=NM_173636,NM_001083961;GI=WDR62,WDR62;FC=Missense_Q1305L,Missense_Q1310L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,75:77:99:2378,111,0:57:99:0.974 chr19 36642561 . G GC 904.31 PASS BaseQRankSum=4.850;DP=94;FS=3.048;HRun=8;HaplotypeScore=352.8158;MQ=50;MQ0=0;MQRankSum=1.536;QD=9.62;ReadPosRankSum=0.418;SB=-236.10;TI=NM_001864;GI=COX7A1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,35:93:99:943,0,1785:50:99:0.376 chr19 36642562 rs2285599 A C 1191.71 PASS BaseQRankSum=1.880;DP=96;Dels=0.01;FS=13.305;HRun=6;HaplotypeScore=60.5399;MQ=50;MQ0=0;MQRankSum=0.555;QD=12.41;ReadPosRankSum=0.450;SB=-366.89;TI=NM_001864;GI=COX7A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,47:95:99:1222,0,1264:50:99:0.495 chr19 38935280 rs2229139 A G 3312.59 PASS DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6203;MQ=54;MQ0=0;QD=27.84;SB=-2185.17;TI=NM_000540,NM_001042723;GI=RYR1,RYR1;FC=Synonymous_L198L,Synonymous_L198L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,119:119:99:3313,235,0:54:99:1.000 chr19 38939408 rs10406027 T C 2896.37 PASS DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6106;MQ=53;MQ0=0;QD=27.85;SB=-1517.00;TI=NM_000540,NM_001042723;GI=RYR1,RYR1;FC=Synonymous_A359A,Synonymous_A359A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,104:104:99:2929,211,0:53:99:1.000 chr19 38946182 rs2288888 G A 3771.71 PASS BaseQRankSum=1.704;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6257;MQ=57;MQ0=0;MQRankSum=1.704;QD=30.42;ReadPosRankSum=0.000;SB=-1941.99;TI=NM_000540,NM_001042723;GI=RYR1,RYR1;FC=Synonymous_S556S,Synonymous_S556S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,123:124:99:3772,277,0:57:99:0.992 chr19 38949904 rs3745847 C T 7773.07 PASS DP=268;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3934;MQ=53;MQ0=0;QD=29.00;SB=-4428.27;TI=NM_000540,NM_001042723;GI=RYR1,RYR1;FC=Synonymous_P762P,Synonymous_P762P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,267:268:99:7773,566,0:53:99:1.000 chr19 38956803 rs2228069 G A 4304.04 PASS DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3009;MQ=55;MQ0=0;QD=28.32;SB=-1943.77;TI=NM_000540,NM_001042723;GI=RYR1,RYR1;FC=Synonymous_T981T,Synonymous_T981T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:152:99:4304,310,0:55:99:1.000 chr19 39196736 rs11553600 G A 430.64 PASS BaseQRankSum=0.306;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=-1.146;QD=7.83;ReadPosRankSum=-0.306;SB=-277.64;TI=NM_004924;GI=ACTN4;FC=Synonymous_P179P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,20:55:99:461,0,892:53:99:0.364 chr19 39196745 rs3745859 C T 783.77 PASS BaseQRankSum=1.026;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=2.592;QD=15.07;ReadPosRankSum=1.734;SB=-506.19;TI=NM_004924;GI=ACTN4;FC=Synonymous_N182N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,31:52:99:814,0,485:53:99:0.596 chr19 39219780 rs1136956 T C 1155.42 PASS BaseQRankSum=0.881;DP=93;Dels=0.00;FS=1.725;HRun=1;HaplotypeScore=9.4329;MQ=56;MQ0=0;MQRankSum=-0.019;QD=12.42;ReadPosRankSum=-0.973;SB=-544.06;TI=NM_004924;GI=ACTN4;FC=Synonymous_L855L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,44:93:99:1185,0,1390:56:99:0.473 chr19 39408360 rs7508411 A G 989.11 PASS BaseQRankSum=1.775;DP=84;Dels=0.00;FS=1.859;HRun=0;HaplotypeScore=15.3179;MQ=50;MQ0=0;MQRankSum=0.379;QD=11.78;ReadPosRankSum=0.516;SB=-606.80;TI=NM_017827,NM_001145901;GI=SARS2,SARS2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,44:84:99:1019,0,892:50:99:0.530 chr19 39994711 rs1110627 T C 2226.07 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7603;MQ=54;MQ0=0;QD=27.48;SB=-1167.94;TI=NM_203486,NM_016941;GI=DLL3,DLL3;FC=Unknown_218,Unknown_218;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2259,163,0:54:99:1.000 chr19 40900865 rs268674 C T 5857.52 PASS BaseQRankSum=0.942;DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1915;MQ=57;MQ0=0;MQRankSum=0.817;QD=30.19;ReadPosRankSum=-1.588;SB=-3362.77;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Missense_G1132R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,192:194:99:5858,396,0:57:99:0.995 chr19 40901496 rs268673 T C 4502.53 PASS BaseQRankSum=0.650;DP=353;Dels=0.00;FS=1.255;HRun=1;HaplotypeScore=12.0132;MQ=55;MQ0=0;MQRankSum=1.647;QD=12.76;ReadPosRankSum=0.504;SB=-2661.63;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Missense_I921M,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:182,171:353:99:4503,0,4657:55:99:0.484 chr19 40901604 rs268672 A G 3789.54 PASS BaseQRankSum=0.088;DP=313;Dels=0.00;FS=3.760;HRun=3;HaplotypeScore=20.9461;MQ=57;MQ0=0;MQRankSum=2.666;QD=12.11;ReadPosRankSum=0.812;SB=-1858.56;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Synonymous_P885P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:169,142:313:99:3790,0,4637:57:99:0.457 chr19 40901614 rs268671 A G 3778.47 PASS BaseQRankSum=2.131;DP=305;Dels=0.00;FS=6.179;HRun=0;HaplotypeScore=25.7661;MQ=57;MQ0=0;MQRankSum=2.335;QD=12.39;ReadPosRankSum=0.780;SB=-1686.10;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Missense_V882A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:165,138:305:99:3778,0,4649:57:99:0.455 chr19 40929363 rs268687 T C 2163.13 PASS BaseQRankSum=2.186;DP=195;Dels=0.00;FS=1.760;HRun=0;HaplotypeScore=13.1306;MQ=55;MQ0=0;MQRankSum=-1.022;QD=11.09;ReadPosRankSum=-0.847;SB=-1352.44;TI=NM_013376;GI=SERTAD1;FC=Missense_T31A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,90:195:99:2193,0,2551:55:99:0.464 chr19 41111069 rs2303729 G A 1164.55 PASS BaseQRankSum=0.534;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7770;MQ=54;MQ0=0;MQRankSum=0.142;QD=10.22;ReadPosRankSum=0.295;SB=-730.43;TI=NM_003573,NM_001042544,NM_001042545;GI=LTBP4,LTBP4,LTBP4;FC=Missense_V157I,Missense_V194I,Missense_V127I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,53:114:99:1195,0,1692:54:99:0.465 chr19 41117869 rs1131620 A G 1517.45 PASS BaseQRankSum=0.972;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=54;MQ0=0;MQRankSum=0.951;QD=9.60;ReadPosRankSum=1.514;SB=-872.13;TI=NM_003573,NM_001042544,NM_001042545;GI=LTBP4,LTBP4,LTBP4;FC=Missense_T750A,Missense_T787A,Missense_T720A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,64:158:99:1547,0,2304:54:99:0.405 chr19 41118056 rs1051303 A G 1957.60 PASS BaseQRankSum=1.438;DP=234;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.6797;MQ=54;MQ0=0;MQRankSum=1.920;QD=8.37;ReadPosRankSum=0.353;SB=-1230.76;TI=NM_003573,NM_001042544,NM_001042545;GI=LTBP4,LTBP4,LTBP4;FC=Missense_T783A,Missense_T820A,Missense_T753A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:143,91:234:99:1988,0,3476:54:99:0.389 chr19 41123093 . A AG 4954.18 PASS DP=122;FS=0.000;HRun=2;HaplotypeScore=125.5782;MQ=58;MQ0=0;QD=40.61;SB=-1945.88;TI=NM_003573,NM_001042544,NM_001042545;GI=LTBP4,LTBP4,LTBP4;FC=Frameshift,Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:4954,367,0:58:99:1.000 chr19 41129842 rs7367 C T 1846.51 PASS BaseQRankSum=2.357;DP=126;Dels=0.00;FS=3.269;HRun=0;HaplotypeScore=4.6413;MQ=54;MQ0=0;MQRankSum=0.815;QD=14.65;ReadPosRankSum=-0.292;SB=-1178.12;TI=NM_003573,NM_001042544,NM_001042545;GI=LTBP4,LTBP4,LTBP4;FC=Missense_T1259I,Missense_T1296I,Missense_T1229I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,73:126:99:1877,0,1407:54:99:0.579 chr19 41173871 rs62637692 C T 267.03 PASS BaseQRankSum=0.174;DP=49;Dels=0.00;FS=1.335;HRun=1;HaplotypeScore=44.5946;MQ=37;MQ0=0;MQRankSum=0.825;QD=5.45;ReadPosRankSum=-2.174;SB=-99.35;TI=NM_004756;GI=NUMBL;FC=Synonymous_Q444Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,12:49:99:297,0,1019:37:99:0.245 chr19 41173874 rs62637691 T C 266.57 PASS BaseQRankSum=1.081;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=47.5859;MQ=37;MQ0=0;MQRankSum=0.430;QD=5.33;ReadPosRankSum=-2.383;SB=-99.51;TI=NM_004756;GI=NUMBL;FC=Synonymous_Q443Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,12:50:99:297,0,970:37:99:0.245 chr19 41173880 . C T 608.79 PASS BaseQRankSum=1.167;DP=53;Dels=0.00;FS=8.135;HRun=1;HaplotypeScore=38.9464;MQ=36;MQ0=0;MQRankSum=-0.098;QD=11.49;ReadPosRankSum=0.330;SB=-194.99;TI=NM_004756;GI=NUMBL;FC=Synonymous_Q441Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,25:53:99:639,0,692:36:99:0.472 chr19 41173886 rs62640392 C T 227.54 PASS BaseQRankSum=1.765;DP=52;Dels=0.00;FS=2.957;HRun=1;HaplotypeScore=154.1311;MQ=37;MQ0=0;MQRankSum=0.766;QD=4.38;ReadPosRankSum=-2.032;SB=-84.30;TI=NM_004756;GI=NUMBL;FC=Synonymous_Q439Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,12:52:99:258,0,1168:37:99:0.235 chr19 41173889 . C T 239.08 PASS BaseQRankSum=-0.775;DP=51;Dels=0.00;FS=12.464;HRun=1;HaplotypeScore=233.5741;MQ=37;MQ0=0;MQRankSum=-1.912;QD=4.69;ReadPosRankSum=1.705;SB=-55.56;TI=NM_004756;GI=NUMBL;FC=Synonymous_Q438Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,15:51:99:269,0,1030:37:99:0.294 chr19 41173892 . CTGCTGT C 2410.73 PASS BaseQRankSum=-0.500;DP=50;FS=0.000;HRun=0;HaplotypeScore=413.3661;MQ=37;MQ0=0;MQRankSum=-0.038;QD=48.21;ReadPosRankSum=1.193;SB=-1168.45;TI=NM_004756;GI=NUMBL;FC=2AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:22,28:50:99:2453,124,0:37:99:0.560 chr19 41173904 rs79658769 T C 8.48 LowGQX;LowVariantFreq;SB BaseQRankSum=-1.811;DP=51;Dels=0.04;FS=4.123;HRun=0;HaplotypeScore=196.8780;MQ=39;MQ0=0;MQRankSum=-0.811;QD=0.17;ReadPosRankSum=-1.846;SB=-0.01;TI=NM_004756;GI=NUMBL;FC=Synonymous_Q433Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,5:49:37.81:38,0,1333:39:8:0.106 chr19 41173907 . C T 13.38 LowVariantFreq;SB BaseQRankSum=-1.668;DP=52;Dels=0.08;FS=4.410;HRun=1;HaplotypeScore=104.0932;MQ=39;MQ0=0;MQRankSum=-0.546;QD=0.26;ReadPosRankSum=-1.574;SB=-0.01;TI=NM_004756;GI=NUMBL;FC=Synonymous_Q432Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,6:48:43.17:43,0,1350:39:13:0.125 chr19 41350664 rs1809810 A T 3542.40 PASS BaseQRankSum=1.672;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9078;MQ=48;MQ0=10;MQRankSum=1.280;QD=28.11;ReadPosRankSum=-1.310;SB=-1452.70;TI=NM_000762;GI=CYP2A6;FC=Missense_F392Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,121:126:99:3542,262,0:48:99:0.968 chr19 41354606 rs4986892 G T 70.57 LowVariantFreq;SB BaseQRankSum=-0.240;DP=194;Dels=0.00;FS=1.047;HRun=0;HaplotypeScore=14.6954;MQ=53;MQ0=3;MQRankSum=-5.396;QD=0.36;ReadPosRankSum=2.180;SB=-0.01;TI=NM_000762;GI=CYP2A6;FC=Synonymous_R136R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:173,21:194:99:101,0,4586:53:71:0.108 chr19 41354661 rs79584535 T C 119.50 LowVariantFreq;SB BaseQRankSum=1.521;DP=155;Dels=0.00;FS=8.591;HRun=0;HaplotypeScore=4.5721;MQ=53;MQ0=1;MQRankSum=-5.205;QD=0.77;ReadPosRankSum=-2.708;SB=-3.28;TI=NM_000762;GI=CYP2A6;FC=Synonymous_V117V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,19:155:99:149,0,4011:53:99:0.123 chr19 41356281 rs1137115 T C 6581.21 PASS BaseQRankSum=1.618;DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=22.1209;MQ=55;MQ0=0;MQRankSum=1.618;QD=27.08;ReadPosRankSum=1.159;SB=-3930.51;TI=NM_000762;GI=CYP2A6;FC=Synonymous_V17V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,241:243:99:6581,476,0:55:99:0.996 chr19 41396865 rs4803397 G A 3080.08 PASS DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3478;MQ=55;MQ0=0;QD=30.80;SB=-1645.84 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:100:99:3113,232,0:55:99:1.000 chr19 41396915 rs10406188 A G 4020.22 PASS DP=126;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.5049;MQ=54;MQ0=0;QD=31.91;SB=-1994.95 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:4020,298,0:54:99:1.000 chr19 41397370 rs3852870;rs56299188 A C 4114.52 PASS DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7541;MQ=55;MQ0=0;QD=33.45;SB=-1759.27 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:4115,307,0:55:99:1.000 chr19 41397499 rs8103288 C G 4022.90 PASS BaseQRankSum=1.146;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4699;MQ=55;MQ0=0;MQRankSum=0.346;QD=30.95;ReadPosRankSum=1.519;SB=-2263.82 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,129:130:99:4023,266,0:55:99:0.992 chr19 41397661 rs8103444 C A 4739.25 PASS BaseQRankSum=1.570;DP=150;Dels=0.00;FS=3.222;HRun=0;HaplotypeScore=15.5647;MQ=56;MQ0=0;MQRankSum=1.709;QD=31.60;ReadPosRankSum=-0.854;SB=-2710.87 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,149:150:99:4739,325,0:56:99:0.993 chr19 41397806 rs8106551 C A 5175.24 PASS DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;QD=29.40;SB=-2612.99 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,176:176:99:5175,376,0:53:99:1.000 chr19 41397873 . C A 149.02 LowVariantFreq;SB BaseQRankSum=0.204;DP=175;Dels=0.00;FS=9.496;HRun=0;HaplotypeScore=3.5215;MQ=50;MQ0=0;MQRankSum=1.302;QD=0.85;ReadPosRankSum=-1.954;SB=-0.01 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:159,16:175:99:179,0,4191:50:99:0.091 chr19 41397874 . T C 158.88 LowVariantFreq;SB BaseQRankSum=1.789;DP=173;Dels=0.00;FS=11.482;HRun=1;HaplotypeScore=3.5215;MQ=51;MQ0=0;MQRankSum=1.003;QD=0.92;ReadPosRankSum=-1.784;SB=-0.01 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:157,16:173:99:189,0,4103:51:99:0.092 chr19 41404196 rs10419393 A G 4931.65 PASS DP=186;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=47;MQ0=7;QD=26.51;SB=-2772.04 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,186:186:99:4932,361,0:47:99:1.000 chr19 41405962 rs4803400 T G 9190.85 PASS BaseQRankSum=1.712;DP=342;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=17.3432;MQ=54;MQ0=0;MQRankSum=-1.145;QD=26.87;ReadPosRankSum=1.509;SB=-5609.44 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,341:342:99:9191,662,0:54:99:0.997 chr19 41512841 rs3745274;rs56308434 G T 1935.36 PASS BaseQRankSum=1.237;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8936;MQ=57;MQ0=0;MQRankSum=1.089;QD=27.65;ReadPosRankSum=1.683;SB=-1039.31;TI=NM_000767;GI=CYP2B6;FC=Missense_Q172H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,69:70:99:1968,110,0:57:99:0.986 chr19 41515263 rs2279343;rs28399497 A G 74.21 LowGQ;SB;LowDP DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=12;MQ0=10;QD=4.12;SB=-0.01;TI=NM_000767;GI=CYP2B6;FC=Missense_K262R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,18:18:12:107,12,0:12:12:1.000 chr19 41622107 rs11399890 G GC 605.26 PASS BaseQRankSum=1.620;DP=39;FS=3.035;HRun=1;HaplotypeScore=68.6491;MQ=57;MQ0=0;MQRankSum=1.395;QD=15.52;ReadPosRankSum=-0.127;SB=-136.67;TI=NM_000774;GI=CYP2F1;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,18:39:99:644,0,774:57:99:0.462 chr19 41622189 rs305968 G A 707.08 PASS BaseQRankSum=1.524;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4342;MQ=58;MQ0=0;MQRankSum=-0.178;QD=11.78;ReadPosRankSum=-0.089;SB=-412.04;TI=NM_000774;GI=CYP2F1;FC=Synonymous_P32P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,29:60:99:737,0,744:58:99:0.483 chr19 41627868 rs305974;rs80319612 G A 232.76 PASS BaseQRankSum=0.475;DP=34;Dels=0.00;FS=6.200;HRun=1;HaplotypeScore=5.7401;MQ=41;MQ0=2;MQRankSum=-3.476;QD=6.85;ReadPosRankSum=-0.779;SB=-84.20;TI=NM_000774;GI=CYP2F1;FC=Missense_D218N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,16:34:99:263,0,506:41:99:0.471 chr19 41631415 rs305978 C A 52.01 SB BaseQRankSum=-0.710;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=14;MQ0=36;MQRankSum=-0.452;QD=1.04;ReadPosRankSum=-0.452;SB=-0.01;TI=NM_000774;GI=CYP2F1;FC=Synonymous_T390T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,17:50:82:82,0,183:14:52:0.347 chr19 41633927 . A G 1207.92 PASS BaseQRankSum=2.722;DP=167;Dels=0.00;FS=7.500;HRun=0;HaplotypeScore=4.3683;MQ=45;MQ0=8;MQRankSum=-4.104;QD=7.23;ReadPosRankSum=0.630;SB=-663.52;TI=NM_000774;GI=CYP2F1;FC=Synonymous_P472P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,62:167:99:1238,0,2647:45:99:0.376 chr19 41743861 rs7249222 A G 4904.12 PASS DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.8590;MQ=54;MQ0=0;QD=29.19;SB=-2320.59;TI=NM_001699,NM_021913;GI=AXL,AXL;FC=Missense_N266D,Missense_N266D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:168:99:4904,361,0:54:99:1.000 chr19 41762525 rs2304232 A G 1357.02 PASS BaseQRankSum=0.435;DP=116;Dels=0.00;FS=3.558;HRun=0;HaplotypeScore=9.3416;MQ=54;MQ0=0;MQRankSum=1.630;QD=11.70;ReadPosRankSum=2.511;SB=-570.33;TI=NM_001699,NM_021913;GI=AXL,AXL;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,53:116:99:1387,0,1630:54:99:0.461 chr19 41939297 rs1043413 C G 5889.64 PASS DP=209;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2685;MQ=52;MQ0=0;QD=28.18;SB=-3461.22;TI=NM_001167868,NM_001167867,NM_018035,NR_030765,NM_001167870,NM_001167871,NM_001167869;GI=ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL;FC=Silent,Missense_C165S,Missense_C159S,Silent,Silent,Missense_C132S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,209:209:99:5890,433,0:52:99:1.000 chr19 41944237 rs2231940 T C 6558.98 PASS BaseQRankSum=1.838;DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.5411;MQ=54;MQ0=0;MQRankSum=1.238;QD=26.99;ReadPosRankSum=0.881;SB=-3803.05;TI=NM_001167868,NM_001167867,NM_018035,NR_030765,NM_001167870,NM_001167871,NM_001167869;GI=ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL;FC=Missense_N40S,Missense_N40S,Missense_N34S,Silent,Missense_N34S,Missense_N34S,Missense_N34S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,239:243:99:6559,431,0:54:99:0.992 chr19 42489516 rs2217342 A C 2009.90 PASS BaseQRankSum=0.454;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3695;MQ=55;MQ0=0;MQRankSum=0.048;QD=11.82;ReadPosRankSum=-1.110;SB=-1209.79;TI=NM_152296;GI=ATP1A3;FC=Synonymous_T222T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,90:170:99:2040,0,2023:55:99:0.529 chr19 42728836 rs3810151 T C 5106.30 PASS BaseQRankSum=3.209;DP=377;Dels=0.00;FS=4.551;HRun=0;HaplotypeScore=20.1450;MQ=56;MQ0=0;MQRankSum=4.257;QD=13.54;ReadPosRankSum=0.761;SB=-3209.60;TI=NM_133444;GI=ZNF526;FC=Missense_V94A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:180,197:377:99:5106,0,4861:56:99:0.523 chr19 42799049 rs1052023 C T 4434.98 PASS BaseQRankSum=1.767;DP=397;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=43.5945;MQ=54;MQ0=0;MQRankSum=0.579;QD=11.17;ReadPosRankSum=0.962;SB=-2847.16;TI=NM_015125;GI=CIC;FC=Synonymous_I1511I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:211,186:397:99:4435,0,5141:54:99:0.469 chr19 43860192 rs12981714;rs71337594 T G 544.07 PASS BaseQRankSum=-1.261;DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=11;MQ0=113;MQRankSum=1.576;QD=4.03;ReadPosRankSum=0.000;SB=-55.33;TI=NM_020406;GI=CD177;FC=Missense_V184G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:58,77:135:51.11:577,51,0:11:51:0.570 chr19 43860251 rs12980412 G A 304.59 SB BaseQRankSum=-0.869;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=10;MQ0=91;MQRankSum=1.448;QD=2.96;ReadPosRankSum=-0.290;SB=-0.01;TI=NM_020406;GI=CD177;FC=Missense_D204N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:52,51:103:30.07:338,30,0:10:30:0.495 chr19 43860255 rs12981771 T G 304.59 SB BaseQRankSum=0.579;DP=102;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=10;MQ0=90;MQRankSum=1.159;QD=2.99;ReadPosRankSum=-0.290;SB=-0.01;TI=NM_020406;GI=CD177;FC=Missense_M205R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:51,51:102:30.07:338,30,0:10:30:0.500 chr19 43865692 rs17856829;rs61625631 G A 931.85 PASS BaseQRankSum=0.327;DP=146;Dels=0.00;FS=4.120;HRun=0;HaplotypeScore=2.6823;MQ=35;MQ0=53;MQRankSum=0.096;QD=6.38;ReadPosRankSum=-1.886;SB=-548.06;TI=NM_020406;GI=CD177;FC=Missense_A348T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,59:146:99:962,0,1163:35:99:0.404 chr19 44047550 rs3547 T C 2421.54 PASS DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.9204;MQ=52;MQ0=0;QD=27.21;SB=-1062.38;TI=NM_006297;GI=XRCC1;FC=Synonymous_Q632Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2455,184,0:52:99:1.000 chr19 44047826 rs2682557 T A 4185.71 PASS DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=53;MQ0=0;QD=27.00;SB=-2541.41;TI=NM_006297;GI=XRCC1;FC=Missense_N576Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4186,301,0:53:99:1.000 chr19 44156472 rs2302524 T C 1446.59 PASS BaseQRankSum=-2.016;DP=119;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=7.4949;MQ=54;MQ0=0;MQRankSum=1.984;QD=12.16;ReadPosRankSum=2.306;SB=-1085.04;TI=NM_001005376,NM_001005377,NM_002659;GI=PLAUR,PLAUR,PLAUR;FC=Missense_K220R,Missense_K175R,Missense_K220R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,68:119:99:1477,0,1207:54:99:0.571 chr19 44605324 . A G 1176.51 PASS BaseQRankSum=0.400;DP=102;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.7876;MQ=56;MQ0=0;MQRankSum=1.671;QD=11.53;ReadPosRankSum=2.653;SB=-589.39;TI=NM_013398;GI=ZNF224;FC=Missense_R61G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,46:102:99:1207,0,1538:56:99:0.451 chr19 44610665 rs2068061 A G 54.17 LowGQX;LowGQ;LowDP DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=46;MQ0=0;QD=18.06;SB=-40.01;TI=NM_013398,NR_033341;GI=ZNF224,LOC100379224;FC=Missense_M118V,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,3:3:6.02:85,6,0:46:6:1.000 chr19 44610798 rs4239529 A T 84.93 LowGQX;LowGQ;LowDP DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=21.23;SB=-70.77;TI=NM_013398,NR_033341;GI=ZNF224,LOC100379224;FC=Missense_H162L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,4:4:9.03:117,9,0:50:9:1.000 chr19 44611066 rs7508149 T C 502.20 PASS DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=25.11;SB=-306.95;TI=NM_013398,NR_033341;GI=ZNF224,LOC100379224;FC=Synonymous_H251H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,20:20:39.12:535,39,0:54:39:1.000 chr19 44611420 rs4508518 A G 427.75 LowDP DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.52;SB=-241.90;TI=NM_013398,NR_033341;GI=ZNF224,LOC100379224;FC=Synonymous_E369E,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,15:15:33.11:461,33,0:57:33:1.000 chr19 44612005 rs3746321 A G 8.47 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=8.47;SB=-0.01;TI=NM_013398,NR_033341;GI=ZNF224,LOC100379224;FC=Synonymous_G564G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:38,3,0:60:3:1.000 chr19 44612014 rs3200505 A T 8.47 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=8.47;SB=-0.01;TI=NM_013398,NR_033341;GI=ZNF224,LOC100379224;FC=Synonymous_P567P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:38,3,0:60:3:1.000 chr19 44612231 rs3746319 A G 90.36 LowGQX;LowGQ;LowDP DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=22.59;SB=-76.20;TI=NM_013398,NR_033341;GI=ZNF224,LOC100379224;FC=Missense_K640E,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,4:4:9.03:122,9,0:50:9:1.000 chr19 45162038 rs203710 A G 5939.09 PASS DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=30.30;SB=-2962.49;TI=NM_001135770,NM_001135768,NM_006505,NM_001135769;GI=PVR,PVR,PVR,PVR;FC=Missense_I340M,Silent,Missense_I340M,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,196:196:99:5939,430,0:57:99:1.000 chr19 45395714 rs157581 T C 4381.88 PASS DP=161;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5747;MQ=53;MQ0=0;QD=27.22;SB=-2577.65;TI=NM_001128917,NM_006114,NM_001128916;GI=TOMM40,TOMM40,TOMM40;FC=Synonymous_F113F,Synonymous_F113F,Synonymous_F113F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,161:161:99:4382,313,0:53:99:1.000 chr19 45396144 rs11556505 C T 1132.03 PASS BaseQRankSum=0.714;DP=97;Dels=0.00;FS=6.681;HRun=2;HaplotypeScore=4.7685;MQ=50;MQ0=0;MQRankSum=1.149;QD=11.67;ReadPosRankSum=-1.678;SB=-828.45;TI=NM_001128917,NM_006114,NM_001128916;GI=TOMM40,TOMM40,TOMM40;FC=Synonymous_F131F,Synonymous_F131F,Synonymous_F131F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,53:97:99:1162,0,1069:50:99:0.546 chr19 45411941 rs429358 T C 1460.68 PASS BaseQRankSum=1.205;DP=145;Dels=0.00;FS=1.348;HRun=0;HaplotypeScore=11.5880;MQ=53;MQ0=0;MQRankSum=1.272;QD=10.07;ReadPosRankSum=1.117;SB=-853.33;TI=NM_000041;GI=APOE;FC=Missense_C130R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,64:145:99:1491,0,2009:53:99:0.441 chr19 45476422 rs204481 T C 4012.91 PASS DP=145;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.0166;MQ=56;MQ0=0;QD=27.68;SB=-2226.20;TI=NM_001294,NM_001199468;GI=CLPTM1,CLPTM1;FC=Synonymous_A88A,Synonymous_A88A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,145:145:99:4013,295,0:56:99:1.000 chr19 45488567 rs204471 T C 3176.29 PASS DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=55;MQ0=0;QD=29.68;SB=-1751.62;TI=NM_001294,NM_001199468;GI=CLPTM1,CLPTM1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,107:107:99:3209,235,0:55:99:1.000 chr19 45490636 rs204468 T C 4429.68 PASS DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5436;MQ=55;MQ0=0;QD=29.93;SB=-2282.75;TI=NM_001294,NM_001199468;GI=CLPTM1,CLPTM1;FC=Synonymous_G331G,Synonymous_G331G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,148:148:99:4430,322,0:55:99:1.000 chr19 45682824 rs758506 G A 539.57 PASS BaseQRankSum=2.295;DP=38;Dels=0.00;FS=1.271;HRun=0;HaplotypeScore=1.8499;MQ=57;MQ0=0;MQRankSum=3.640;QD=14.20;ReadPosRankSum=0.687;SB=-255.96;TI=NM_212550;GI=BLOC1S3;FC=Synonymous_A90A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,20:38:99:570,0,393:57:99:0.526 chr19 45810035 rs4884 A G 1106.20 PASS BaseQRankSum=0.434;DP=133;Dels=0.00;FS=0.670;HRun=0;HaplotypeScore=4.5658;MQ=51;MQ0=0;MQRankSum=0.931;QD=8.32;ReadPosRankSum=0.554;SB=-726.03;TI=NM_001824;GI=CKM;FC=Synonymous_I373I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,53:133:99:1136,0,1924:51:99:0.398 chr19 45818835 rs1133190 A G 1462.87 PASS BaseQRankSum=0.788;DP=145;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.4124;MQ=54;MQ0=0;MQRankSum=2.075;QD=10.09;ReadPosRankSum=-1.269;SB=-1022.99;TI=NM_001824;GI=CKM;FC=Synonymous_P123P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,66:145:99:1493,0,1796:54:99:0.455 chr19 45821183 rs11559024 T C 1625.57 PASS BaseQRankSum=3.742;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=52;MQ0=0;MQRankSum=1.680;QD=12.41;ReadPosRankSum=-0.480;SB=-1239.43;TI=NM_001824;GI=CKM;FC=Missense_E83G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,73:131:99:1656,0,1362:52:99:0.557 chr19 45868309 rs238406 T G 1030.07 PASS BaseQRankSum=0.435;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8665;MQ=54;MQ0=0;MQRankSum=0.892;QD=13.92;ReadPosRankSum=0.522;SB=-614.89;TI=NM_000400,NM_001130867;GI=ERCC2,ERCC2;FC=Synonymous_R156R,Synonymous_R132R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,41:74:99:1060,0,842:54:99:0.554 chr19 45912736 rs3212986 C A 1009.58 PASS BaseQRankSum=-0.440;DP=76;Dels=0.01;FS=0.896;HRun=1;HaplotypeScore=5.6875;MQ=57;MQ0=0;MQRankSum=1.786;QD=13.28;ReadPosRankSum=-0.885;SB=-479.40;TI=NM_012099,NM_001166049,NM_001983;GI=CD3EAP,ERCC1,ERCC1;FC=Missense_Q504K,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,37:75:99:1040,0,1090:57:99:0.493 chr19 45923653 rs11615 A G 1120.59 PASS BaseQRankSum=0.503;DP=153;Dels=0.00;FS=4.094;HRun=0;HaplotypeScore=2.6274;MQ=52;MQ0=0;MQRankSum=0.429;QD=7.32;ReadPosRankSum=1.439;SB=-633.30;TI=NM_001166049,NM_001983,NM_202001;GI=ERCC1,ERCC1,ERCC1;FC=Synonymous_N118N,Synonymous_N118N,Synonymous_N118N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,52:153:99:1151,0,2458:52:99:0.340 chr19 45998247 rs10401270 A G 1591.76 PASS BaseQRankSum=1.040;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.6182;MQ=53;MQ0=0;MQRankSum=2.626;QD=11.45;ReadPosRankSum=0.622;SB=-934.01;TI=NM_005619,NM_206900;GI=RTN2,RTN2;FC=Synonymous_S32S,Synonymous_S32S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,66:139:99:1622,0,1795:53:99:0.475 chr19 46057081 rs3826860 A G 2711.10 PASS DP=94;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4941;MQ=57;MQ0=0;QD=28.84;SB=-1375.96;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Synonymous_A77A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2744,202,0:57:99:1.000 chr19 46269076 rs2014576 G A 2158.98 PASS DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=54;MQ0=0;QD=28.79;SB=-1061.22;TI=NM_175875;GI=SIX5;FC=Missense_P635S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:75:99:2192,163,0:54:99:1.000 chr19 46269313 rs2014377 G C 676.68 PASS DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=29.42;SB=-196.56;TI=NM_175875;GI=SIX5;FC=Missense_L556V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,23:23:54.17:710,54,0:52:54:1.000 chr19 46281745 rs1799894 A G 2338.72 PASS DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=27.51;SB=-1489.15;TI=NM_001081563,NM_004409,NM_001081562,NM_001081560;GI=DMPK,DMPK,DMPK,DMPK;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2372,172,0:58:99:1.000 chr19 47124714 rs2229129 T G 1780.87 PASS BaseQRankSum=-0.459;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.8038;MQ=56;MQ0=0;MQRankSum=0.459;QD=14.48;ReadPosRankSum=1.783;SB=-743.50;TI=NM_000960;GI=PTGIR;FC=Synonymous_S328S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,66:123:99:1811,0,1454:56:99:0.537 chr19 47127324 rs2229128 C G 1406.77 PASS BaseQRankSum=0.910;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8572;MQ=55;MQ0=0;MQRankSum=0.433;QD=13.93;ReadPosRankSum=1.435;SB=-824.98;TI=NM_000960;GI=PTGIR;FC=Synonymous_V53V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,55:101:99:1437,0,1239:55:99:0.545 chr19 47258842 rs2287717 C T 783.70 PASS BaseQRankSum=-0.662;DP=62;Dels=0.00;FS=1.025;HRun=0;HaplotypeScore=4.9922;MQ=54;MQ0=0;MQRankSum=0.324;QD=12.64;ReadPosRankSum=0.802;SB=-298.40;TI=NM_024301,NM_001039885;GI=FKRP,FKRP;FC=Synonymous_A45A,Synonymous_A45A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,31:62:99:814,0,756:54:99:0.500 chr19 48182568 rs2911005 C T 1369.19 PASS BaseQRankSum=1.032;DP=115;Dels=0.00;FS=2.501;HRun=0;HaplotypeScore=8.2009;MQ=55;MQ0=0;MQRankSum=1.211;QD=11.91;ReadPosRankSum=1.256;SB=-593.31;TI=NM_015711;GI=GLTSCR1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,56:115:99:1399,0,1475:55:99:0.487 chr19 48182787 rs4802382 C T 1358.44 PASS BaseQRankSum=0.895;DP=126;Dels=0.00;FS=5.637;HRun=0;HaplotypeScore=5.2706;MQ=55;MQ0=0;MQRankSum=0.979;QD=10.78;ReadPosRankSum=-1.530;SB=-723.12;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_A120A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,55:126:99:1388,0,1807:55:99:0.437 chr19 48182946 rs2911006 T C 1026.51 PASS BaseQRankSum=0.693;DP=97;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.7703;MQ=55;MQ0=0;MQRankSum=-0.092;QD=10.58;ReadPosRankSum=-1.594;SB=-528.02;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_P173P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,40:97:99:1057,0,1514:55:99:0.412 chr19 48183114 rs2914438 A G 675.71 PASS BaseQRankSum=-1.662;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4384;MQ=59;MQ0=0;MQRankSum=-1.819;QD=9.01;ReadPosRankSum=-0.539;SB=-392.49;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_T229T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,27:75:99:706,0,1244:59:99:0.365 chr19 48183771 rs1035938 C T 2707.51 PASS BaseQRankSum=3.531;DP=188;Dels=0.00;FS=6.665;HRun=0;HaplotypeScore=9.1128;MQ=54;MQ0=0;MQRankSum=1.105;QD=14.40;ReadPosRankSum=-0.112;SB=-1160.37;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_S448S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,108:188:99:2738,0,1840:54:99:0.574 chr19 48184474 rs3745762 C T 2180.66 PASS BaseQRankSum=-0.220;DP=189;Dels=0.00;FS=3.320;HRun=0;HaplotypeScore=11.1377;MQ=49;MQ0=0;MQRankSum=-0.731;QD=11.54;ReadPosRankSum=-0.212;SB=-1484.14;TI=NM_015711;GI=GLTSCR1;FC=Missense_P683S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,98:189:99:2211,0,2082:49:99:0.519 chr19 48197465 . T C 3.64 LowGQX;LowVariantFreq;SB BaseQRankSum=-0.718;DP=27;Dels=0.00;FS=17.042;HRun=4;HaplotypeScore=32.4477;MQ=30;MQ0=0;MQRankSum=-0.718;QD=0.13;ReadPosRankSum=-1.404;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_S793P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,5:27:31.17:31,0,561:30:4:0.185 chr19 48197470 . A C 8.87 LowGQX;LowVariantFreq;SB BaseQRankSum=-2.949;DP=30;Dels=0.00;FS=19.221;HRun=4;HaplotypeScore=30.7667;MQ=30;MQ0=0;MQRankSum=0.111;QD=0.30;ReadPosRankSum=-0.111;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_P794P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,5:30:38.26:38,0,667:30:9:0.167 chr19 48197472 . A C 120.09 SB BaseQRankSum=0.339;DP=31;Dels=0.00;FS=32.996;HRun=4;HaplotypeScore=35.7856;MQ=30;MQ0=0;MQRankSum=0.564;QD=3.87;ReadPosRankSum=-1.196;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_H795P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,8:31:99:150,0,546:30:99:0.258 chr19 48197477 . A C 86.40 LowVariantFreq;SB BaseQRankSum=-0.175;DP=31;Dels=0.00;FS=16.251;HRun=4;HaplotypeScore=20.4489;MQ=29;MQ0=0;MQRankSum=0.575;QD=2.79;ReadPosRankSum=-0.725;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_T797P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,6:31:99:116,0,626:29:86:0.194 chr19 48197489 . T C 50.79 SB BaseQRankSum=-2.420;DP=30;Dels=0.03;FS=20.191;HRun=3;HaplotypeScore=47.5954;MQ=29;MQ0=0;MQRankSum=-1.312;QD=1.69;ReadPosRankSum=0.204;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_S801P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,6:29:80.78:81,0,502:29:51:0.222 chr19 48197493 . G C 128.25 SB BaseQRankSum=-1.835;DP=28;Dels=0.00;FS=37.433;HRun=3;HaplotypeScore=34.3465;MQ=29;MQ0=0;MQRankSum=-0.753;QD=4.58;ReadPosRankSum=-0.612;SB=0.85;TI=NM_015711;GI=GLTSCR1;FC=Missense_R802P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,11:28:99:158,0,397:29:99:0.393 chr19 48197497 . A C 98.70 SB BaseQRankSum=-1.725;DP=26;Dels=0.00;FS=24.123;HRun=3;HaplotypeScore=34.0045;MQ=29;MQ0=0;MQRankSum=-0.054;QD=3.80;ReadPosRankSum=-0.431;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_P803P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,9:26:99:129,0,440:29:99:0.346 chr19 48197501 . T C 208.90 SB BaseQRankSum=0.146;DP=25;Dels=0.04;FS=39.242;HRun=3;HaplotypeScore=22.4397;MQ=29;MQ0=0;MQRankSum=0.146;QD=8.36;ReadPosRankSum=-0.088;SB=-0.20;TI=NM_015711;GI=GLTSCR1;FC=Missense_S805P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,10:24:99:239,0,279:29:99:0.417 chr19 48197505 . G C 7.33 LowGQX;LowVariantFreq;SB BaseQRankSum=-1.660;DP=22;Dels=0.00;FS=13.010;HRun=3;HaplotypeScore=26.8070;MQ=29;MQ0=0;MQRankSum=-1.234;QD=0.33;ReadPosRankSum=0.043;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_R806P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,4:22:36.44:36,0,431:29:7:0.182 chr19 48197506 . G C 4.43 LowGQX;LowVariantFreq;SB BaseQRankSum=-1.663;DP=23;Dels=0.00;FS=11.847;HRun=2;HaplotypeScore=27.7736;MQ=29;MQ0=0;MQRankSum=-0.284;QD=0.19;ReadPosRankSum=1.906;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_R806R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,4:23:32.48:32,0,470:29:4:0.174 chr19 48197509 . A C 13.36 LowVariantFreq;SB BaseQRankSum=-1.148;DP=22;Dels=0.00;FS=19.863;HRun=2;HaplotypeScore=25.4098;MQ=29;MQ0=0;MQRankSum=-0.191;QD=0.61;ReadPosRankSum=0.574;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_P807P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,3:22:43.15:43,0,474:29:13:0.136 chr19 48197523 . G C 66.54 SB BaseQRankSum=-2.297;DP=21;Dels=0.00;FS=13.512;HRun=3;HaplotypeScore=13.7472;MQ=29;MQ0=0;MQRankSum=0.117;QD=3.17;ReadPosRankSum=2.452;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_R812P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,6:21:96.53:97,0,429:29:67:0.286 chr19 48197527 . T C 73.45 SB BaseQRankSum=-1.907;DP=21;Dels=0.00;FS=9.944;HRun=3;HaplotypeScore=14.7599;MQ=29;MQ0=0;MQRankSum=0.272;QD=3.50;ReadPosRankSum=2.374;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_P813P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,6:21:99:103,0,380:29:73:0.286 chr19 48197531 . T C 3.22 LowGQX;SB BaseQRankSum=-1.603;DP=23;Dels=0.00;FS=2.831;HRun=3;HaplotypeScore=12.0346;MQ=29;MQ0=0;MQRankSum=-0.484;QD=0.14;ReadPosRankSum=3.242;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_S815P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,5:23:30.40:30,0,527:29:3:0.217 chr19 48197560 . A C 102.52 SB BaseQRankSum=0.343;DP=27;Dels=0.00;FS=16.782;HRun=6;HaplotypeScore=61.1566;MQ=31;MQ0=0;MQRankSum=0.870;QD=3.80;ReadPosRankSum=-0.712;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_P824P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,10:27:99:133,0,189:31:99:0.385 chr19 48197566 . G C 13.87 SB BaseQRankSum=-2.749;DP=31;Dels=0.13;FS=5.880;HRun=0;HaplotypeScore=50.4705;MQ=37;MQ0=0;MQRankSum=-1.480;QD=0.45;ReadPosRankSum=1.269;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_Q826H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,7:27:43.68:44,0,365:37:14:0.318 chr19 48197575 . A C 47.74 SB BaseQRankSum=-1.218;DP=30;Dels=0.00;FS=5.378;HRun=7;HaplotypeScore=51.2849;MQ=41;MQ0=0;MQRankSum=-1.944;QD=1.59;ReadPosRankSum=1.322;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_P829P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,6:30:77.73:78,0,572:41:48:0.200 chr19 48197578 . T C 93.09 SB BaseQRankSum=-2.330;DP=29;Dels=0.03;FS=2.671;HRun=1;HaplotypeScore=45.1861;MQ=41;MQ0=0;MQRankSum=-1.362;QD=3.21;ReadPosRankSum=1.301;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_T830T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,7:28:99:123,0,561:41:93:0.280 chr19 48197581 . G C 22.30 SB BaseQRankSum=-2.208;DP=27;Dels=0.04;FS=2.740;HRun=2;HaplotypeScore=42.1507;MQ=42;MQ0=0;MQRankSum=-1.461;QD=0.83;ReadPosRankSum=0.781;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_L831L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,5:26:52.27:52,0,554:42:22:0.200 chr19 48197623 . G C 8.62 LowGQX;LowVariantFreq;SB BaseQRankSum=-2.450;DP=33;Dels=0.00;FS=5.722;HRun=5;HaplotypeScore=29.5850;MQ=43;MQ0=0;MQRankSum=-2.310;QD=0.26;ReadPosRankSum=-0.303;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_P845P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,6:33:37.97:38,0,757:43:9:0.182 chr19 48197630 . A C 7.13 LowGQX;LowVariantFreq;SB BaseQRankSum=-2.766;DP=32;Dels=0.03;FS=5.722;HRun=2;HaplotypeScore=35.7404;MQ=43;MQ0=0;MQRankSum=-1.692;QD=0.22;ReadPosRankSum=-1.584;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_S848R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,5:31:36.18:36,0,752:43:7:0.161 chr19 48197721 . A C 24.91 LowVariantFreq;SB BaseQRankSum=-3.225;DP=92;Dels=0.00;FS=54.570;HRun=6;HaplotypeScore=48.8494;MQ=38;MQ0=0;MQRankSum=-3.249;QD=0.27;ReadPosRankSum=1.396;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_H878P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,11:92:54.89:55,0,1895:38:25:0.120 chr19 48197724 . T C 28.66 LowVariantFreq;SB BaseQRankSum=-4.578;DP=91;Dels=0.00;FS=51.996;HRun=3;HaplotypeScore=53.5781;MQ=38;MQ0=0;MQRankSum=-2.157;QD=0.31;ReadPosRankSum=2.197;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_L879P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,18:91:58.64:59,0,1836:38:29:0.198 chr19 48198278 . C T 87.69 LowVariantFreq;SB BaseQRankSum=0.798;DP=85;Dels=0.00;FS=28.222;HRun=0;HaplotypeScore=31.7361;MQ=53;MQ0=0;MQRankSum=-4.549;QD=1.03;ReadPosRankSum=-3.471;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_P1006L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,10:85:99:118,0,2232:53:88:0.118 chr19 48198279 . A G 90.67 LowVariantFreq;SB BaseQRankSum=1.179;DP=86;Dels=0.00;FS=28.599;HRun=0;HaplotypeScore=31.7361;MQ=53;MQ0=0;MQRankSum=-4.466;QD=1.05;ReadPosRankSum=-2.499;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_P1006P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,10:86:99:121,0,2233:53:91:0.116 chr19 48198292 . A C 18.24 LowVariantFreq;SB BaseQRankSum=-2.832;DP=95;Dels=0.00;FS=25.896;HRun=5;HaplotypeScore=55.3673;MQ=51;MQ0=0;MQRankSum=-5.333;QD=0.19;ReadPosRankSum=-0.536;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_T1011P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,13:95:48.17:48,0,2364:51:18:0.137 chr19 48198294 . T C 26.00 LowVariantFreq;SB BaseQRankSum=-3.447;DP=95;Dels=0.05;FS=22.370;HRun=1;HaplotypeScore=50.5286;MQ=51;MQ0=0;MQRankSum=-4.444;QD=0.27;ReadPosRankSum=-2.001;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_T1011T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,11:90:55.98:56,0,2317:51:26:0.124 chr19 48198295 . G C 61.17 LowVariantFreq;SB BaseQRankSum=-3.534;DP=100;Dels=0.04;FS=28.217;HRun=5;HaplotypeScore=44.9699;MQ=51;MQ0=0;MQRankSum=-5.257;QD=0.61;ReadPosRankSum=-2.366;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_A1012P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,13:96:91.16:91,0,2513:51:61:0.135 chr19 48198301 . A C 196.91 LowVariantFreq;SB BaseQRankSum=-3.558;DP=99;Dels=0.00;FS=40.155;HRun=5;HaplotypeScore=36.4253;MQ=50;MQ0=0;MQRankSum=-5.748;QD=1.99;ReadPosRankSum=-3.855;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_S1014R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,17:99:99:227,0,2363:50:99:0.172 chr19 48198302 . G C 151.47 LowVariantFreq;SB BaseQRankSum=-3.791;DP=99;Dels=0.00;FS=37.092;HRun=2;HaplotypeScore=36.4253;MQ=50;MQ0=0;MQRankSum=-5.916;QD=1.53;ReadPosRankSum=-4.332;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_S1014T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,17:99:99:181,0,2409:50:99:0.175 chr19 48198305 . A C 105.89 LowVariantFreq;SB BaseQRankSum=-3.681;DP=101;Dels=0.00;FS=33.919;HRun=2;HaplotypeScore=28.9925;MQ=50;MQ0=0;MQRankSum=-5.725;QD=1.05;ReadPosRankSum=-4.971;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_H1015P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,15:101:99:136,0,2576:50:99:0.149 chr19 48198307 . G C 126.95 LowVariantFreq;SB BaseQRankSum=-3.575;DP=101;Dels=0.00;FS=36.138;HRun=5;HaplotypeScore=26.1248;MQ=50;MQ0=0;MQRankSum=-5.558;QD=1.26;ReadPosRankSum=-5.836;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Missense_A1016P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,18:101:99:157,0,2402:50:99:0.180 chr19 48198614 . A C 15.96 LowVariantFreq;SB BaseQRankSum=-4.356;DP=128;Dels=0.00;FS=70.165;HRun=5;HaplotypeScore=52.2079;MQ=44;MQ0=0;MQRankSum=-4.998;QD=0.12;ReadPosRankSum=0.281;SB=-0.01;TI=NM_015711;GI=GLTSCR1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,19:128:45.84:46,0,2968:44:16:0.150 chr19 48198675 rs13346368 A G 1608.85 PASS BaseQRankSum=0.082;DP=168;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=51.6221;MQ=45;MQ0=0;MQRankSum=-0.042;QD=9.58;ReadPosRankSum=1.412;SB=-468.91;TI=NM_015711;GI=GLTSCR1;FC=Missense_T1044A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,68:167:99:1639,0,2496:45:99:0.417 chr19 48205288 rs8100472 G A 1203.89 PASS BaseQRankSum=1.087;DP=65;Dels=0.00;FS=3.740;HRun=0;HaplotypeScore=6.8775;MQ=59;MQ0=0;MQRankSum=1.704;QD=18.52;ReadPosRankSum=0.736;SB=-645.61;TI=NM_015711;GI=GLTSCR1;FC=Synonymous_A1433A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,44:65:99:1234,0,526:59:99:0.677 chr19 48244194 rs7255434 A G 1217.02 PASS DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=32.03;SB=-307.65;TI=NM_014601;GI=EHD2;FC=Synonymous_L379L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,38:38:93.30:1250,93,0:55:93:1.000 chr19 48244569 rs3745758 G A 1461.92 PASS BaseQRankSum=3.019;DP=112;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.162;QD=13.05;ReadPosRankSum=0.376;SB=-752.39;TI=NM_014601;GI=EHD2;FC=Synonymous_E504E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,54:112:99:1492,0,1538:57:99:0.482 chr19 48244692 rs3833256 C CG 2346.33 PASS DP=60;FS=0.000;HRun=2;HaplotypeScore=74.5762;MQ=60;MQ0=0;QD=39.11;SB=-534.38;TI=NM_014601;GI=EHD2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:2388,180,0:60:99:1.000 chr19 48389425 rs11083907 A G 5054.23 PASS DP=192;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3863;MQ=56;MQ0=0;QD=26.32;SB=-3514.28;TI=NM_003167;GI=SULT2A1;FC=Synonymous_F30F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,192:192:99:5054,355,0:56:99:1.000 chr19 48558286 rs2307281 G A 62.96 LowDP BaseQRankSum=-0.495;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.071;QD=4.50;ReadPosRankSum=-0.071;SB=-30.98;TI=NM_001159323,NM_001159322,NM_003706;GI=PLA2G4C,PLA2G4C,PLA2G4C;FC=Synonymous_D426D,Synonymous_D436D,Synonymous_D426D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,4:14:92.96:93,0,282:57:63:0.286 chr19 48571072 rs11564620 T G 1953.21 PASS BaseQRankSum=3.898;DP=160;Dels=0.00;FS=2.015;HRun=2;HaplotypeScore=6.1967;MQ=53;MQ0=0;MQRankSum=0.551;QD=12.21;ReadPosRankSum=0.704;SB=-1301.43;TI=NM_001159323,NM_001159322,NM_003706;GI=PLA2G4C,PLA2G4C,PLA2G4C;FC=Missense_T360P,Missense_T370P,Missense_T360P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,85:160:99:1983,0,1713:53:99:0.531 chr19 48581065 . C T 2398.41 PASS BaseQRankSum=2.554;DP=188;Dels=0.00;FS=1.787;HRun=0;HaplotypeScore=5.5759;MQ=55;MQ0=0;MQRankSum=2.315;QD=12.76;ReadPosRankSum=1.052;SB=-1426.84;TI=NM_001159323,NM_001159322,NM_003706;GI=PLA2G4C,PLA2G4C,PLA2G4C;FC=Synonymous_L287L,Synonymous_L297L,Synonymous_L287L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,92:188:99:2428,0,2379:55:99:0.489 chr19 48598823 rs156631 A G 1061.39 PASS BaseQRankSum=-1.733;DP=123;Dels=0.00;FS=1.480;HRun=1;HaplotypeScore=2.8494;MQ=50;MQ0=0;MQRankSum=0.105;QD=8.63;ReadPosRankSum=-1.047;SB=-702.34;TI=NM_001159323,NM_001159322,NM_003706;GI=PLA2G4C,PLA2G4C,PLA2G4C;FC=Missense_S203P,Missense_S213P,Missense_S203P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,52:123:99:1091,0,1687:50:99:0.423 chr19 48601454 rs251684 T C 4520.24 PASS DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=51;MQ0=0;QD=27.07;SB=-2863.88;TI=NM_001159323,NM_001159322,NM_003706;GI=PLA2G4C,PLA2G4C,PLA2G4C;FC=Synonymous_P170P,Synonymous_P180P,Synonymous_P170P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:167:99:4520,322,0:51:99:1.000 chr19 48602948 rs2303744 T C 2652.15 PASS BaseQRankSum=2.601;DP=177;Dels=0.00;FS=0.609;HRun=0;HaplotypeScore=4.5596;MQ=56;MQ0=0;MQRankSum=0.432;QD=14.98;ReadPosRankSum=-0.595;SB=-970.52;TI=NM_001159323,NM_001159322,NM_003706;GI=PLA2G4C,PLA2G4C,PLA2G4C;FC=Missense_I143V,Missense_I153V,Missense_I143V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,98:177:99:2682,0,1872:56:99:0.554 chr19 48621036 rs13436 C G 1135.23 PASS BaseQRankSum=3.483;DP=103;Dels=0.00;FS=1.595;HRun=1;HaplotypeScore=5.6437;MQ=48;MQ0=0;MQRankSum=-2.585;QD=11.02;ReadPosRankSum=-0.459;SB=-818.65;TI=NM_000234;GI=LIG1;FC=Synonymous_A814A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,54:103:99:1165,0,1092:48:99:0.524 chr19 48622427 rs20581 A G 2205.58 PASS BaseQRankSum=-0.061;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8580;MQ=51;MQ0=0;MQRankSum=-1.121;QD=25.95;ReadPosRankSum=-0.428;SB=-1529.33;TI=NM_000234;GI=LIG1;FC=Synonymous_D802D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,84:85:99:2239,125,0:51:99:0.988 chr19 48626455 . C T 1098.91 PASS BaseQRankSum=2.559;DP=83;Dels=0.00;FS=5.622;HRun=1;HaplotypeScore=1.7608;MQ=55;MQ0=0;MQRankSum=1.492;QD=13.24;ReadPosRankSum=0.315;SB=-637.15;TI=NM_000234;GI=LIG1;FC=Missense_E709K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,44:83:99:1129,0,950:55:99:0.530 chr19 48654553 rs20580 G T 2600.88 PASS DP=100;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=26.01;SB=-1677.35;TI=NM_000234;GI=LIG1;FC=Synonymous_A170A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,100:100:99:2634,187,0:52:99:1.000 chr19 48668830 rs20579 G A 1363.99 PASS BaseQRankSum=2.726;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6770;MQ=54;MQ0=0;MQRankSum=-0.439;QD=12.07;ReadPosRankSum=0.663;SB=-701.52;TI=NM_000234;GI=LIG1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,55:113:99:1394,0,1450:54:99:0.487 chr19 48737706 rs2043211 A T 3828.63 PASS DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7810;MQ=52;MQ0=0;QD=27.35;SB=-2004.29;TI=NR_033679,NM_001184900,NR_033680,NR_033678,NM_001184901,NM_001184903,NM_014959,NM_001184902;GI=CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8,CARD8;FC=Silent,Missense_F102I,Silent,Silent,Missense_F52I,Missense_F102I,Missense_F52I,Missense_F102I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,139:140:99:3829,283,0:52:99:1.000 chr19 48997266 . C A 9.30 LowGQX;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.736;QD=3.10;ReadPosRankSum=0.736;SB=-34.63;TI=NM_001080434;GI=LMTK3;FC=Synonymous_G1288G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,2:3:33.99:39,0,34:60:9:0.667 chr19 49001600 rs61745738 A G 2253.01 PASS BaseQRankSum=3.155;DP=186;Dels=0.00;FS=1.813;HRun=2;HaplotypeScore=5.4448;MQ=55;MQ0=0;MQRankSum=3.804;QD=12.11;ReadPosRankSum=-0.658;SB=-1353.47;TI=NM_001080434;GI=LMTK3;FC=Missense_V938A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,88:186:99:2283,0,2562:55:99:0.476 chr19 49002049 . A G 7.61 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=-0.322;DP=12;Dels=0.00;FS=16.532;HRun=2;HaplotypeScore=7.4892;MQ=45;MQ0=0;MQRankSum=-1.396;QD=0.63;ReadPosRankSum=-0.752;SB=-1.25;TI=NM_001080434;GI=LMTK3;FC=Synonymous_P788P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,2:12:36.78:37,0,263:45:8:0.167 chr19 49002052 . T G 19.76 SB;LowDP BaseQRankSum=-1.099;DP=13;Dels=0.00;FS=17.404;HRun=2;HaplotypeScore=8.4557;MQ=44;MQ0=0;MQRankSum=-1.944;QD=1.52;ReadPosRankSum=-1.437;SB=0.09;TI=NM_001080434;GI=LMTK3;FC=Synonymous_P787P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,3:13:49.71:50,0,284:44:20:0.231 chr19 49002055 . C G 3.55 LowGQX;SB;LowDP BaseQRankSum=-1.466;DP=13;Dels=0.00;FS=16.532;HRun=2;HaplotypeScore=7.5891;MQ=44;MQ0=0;MQRankSum=-1.620;QD=0.27;ReadPosRankSum=-1.003;SB=-1.25;TI=NM_001080434;GI=LMTK3;FC=Synonymous_P786P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,4:13:31.01:31,0,277:44:4:0.308 chr19 49002058 . C G 22.73 SB;LowDP BaseQRankSum=-0.254;DP=13;Dels=0.00;FS=22.175;HRun=11;HaplotypeScore=6.6950;MQ=44;MQ0=0;MQRankSum=-1.775;QD=1.75;ReadPosRankSum=-0.930;SB=-2.04;TI=NM_001080434;GI=LMTK3;FC=Synonymous_P785P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,3:13:52.70:53,0,274:44:23:0.231 chr19 49003060 . C A 801.36 PASS BaseQRankSum=-0.268;DP=69;Dels=0.00;FS=1.747;HRun=0;HaplotypeScore=29.3337;MQ=53;MQ0=0;MQRankSum=-0.543;QD=11.61;ReadPosRankSum=-0.227;SB=-48.63;TI=NM_001080434;GI=LMTK3;FC=Synonymous_P451P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,32:69:99:831,0,782:53:99:0.508 chr19 49004551 rs55953841 C T 3727.01 PASS BaseQRankSum=0.112;DP=316;Dels=0.00;FS=0.862;HRun=1;HaplotypeScore=16.8001;MQ=55;MQ0=0;MQRankSum=1.557;QD=11.79;ReadPosRankSum=0.431;SB=-2504.68;TI=NM_001080434;GI=LMTK3;FC=Synonymous_E359E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:154,161:316:99:3727,0,3577:55:99:0.511 chr19 49006229 rs12462340 G A 691.93 PASS BaseQRankSum=0.817;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1215;MQ=51;MQ0=0;MQRankSum=-0.093;QD=8.76;ReadPosRankSum=-0.993;SB=-437.24;TI=NM_001080434;GI=LMTK3;FC=Synonymous_L223L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,29:79:99:722,0,1215:51:99:0.372 chr19 49102399 rs1132054 C T 2921.58 PASS DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=33.20;SB=-784.70;TI=NM_177973,NM_004605;GI=SULT2B1,SULT2B1;FC=Synonymous_C278C,Synonymous_C263C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2955,220,0:59:99:1.000 chr19 49206417 rs492602 A G 5499.52 PASS BaseQRankSum=1.638;DP=184;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.5610;MQ=55;MQ0=0;MQRankSum=1.581;QD=29.89;ReadPosRankSum=-1.525;SB=-2925.67;TI=NM_000511,NM_001097638;GI=FUT2,FUT2;FC=Synonymous_A68A,Synonymous_A68A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,183:184:99:5500,403,0:55:99:0.995 chr19 49206462 rs681343 C T 6888.10 PASS BaseQRankSum=1.039;DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.6425;MQ=51;MQ0=11;MQRankSum=1.270;QD=31.03;ReadPosRankSum=-0.313;SB=-2789.43;TI=NM_000511,NM_001097638;GI=FUT2,FUT2;FC=Synonymous_Y83Y,Synonymous_Y83Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:9,212:222:99:6888,496,0:51:99:0.959 chr19 49206674 rs601338 G A 5463.81 PASS DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9074;MQ=55;MQ0=0;QD=32.72;SB=-2868.87;TI=NM_000511,NM_001097638;GI=FUT2,FUT2;FC=Nonsense_W154X,Nonsense_W154X;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:167:99:5464,406,0:55:99:1.000 chr19 49206985 rs602662 G A 11174.59 PASS DP=409;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.0836;MQ=54;MQ0=0;QD=27.32;SB=-6538.15;TI=NM_000511,NM_001097638;GI=FUT2,FUT2;FC=Missense_G258S,Missense_G258S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,409:409:99:11175,795,0:54:99:1.000 chr19 49207206 rs485186 A G 912.48 PASS DP=25;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9789;MQ=58;MQ0=0;QD=36.50;SB=-40.65;TI=NM_000511,NM_001097638;GI=FUT2,FUT2;FC=Synonymous_T331T,Synonymous_T331T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,25:25:72.21:945,72,0:58:72:1.000 chr19 49207255 rs485073 A G 518.30 LowDP DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=54;MQ0=0;QD=34.55;SB=-40.01;TI=NM_000511,NM_001097638;GI=FUT2,FUT2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,15:15:42.13:551,42,0:54:42:1.000 chr19 49485548 rs5464 G A 491.95 PASS BaseQRankSum=-0.035;DP=63;Dels=0.00;FS=2.148;HRun=2;HaplotypeScore=4.4704;MQ=51;MQ0=0;MQRankSum=0.956;QD=7.81;ReadPosRankSum=1.417;SB=-396.89;TI=NM_001161587,NR_027763,NM_002103;GI=GYS1,GYS1,GYS1;FC=Synonymous_F278F,Silent,Synonymous_F342F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,26:63:99:522,0,939:51:99:0.413 chr19 49496494 rs2287754 G A 2119.28 PASS BaseQRankSum=2.535;DP=181;Dels=0.00;FS=2.637;HRun=0;HaplotypeScore=18.9784;MQ=57;MQ0=0;MQRankSum=1.701;QD=11.71;ReadPosRankSum=-0.263;SB=-1261.07;TI=NM_001161587,NR_027763,NM_002103;GI=GYS1,GYS1,GYS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,83:181:99:2149,0,2785:57:99:0.459 chr19 49496551 rs2287755 A C 1445.73 PASS BaseQRankSum=-0.489;DP=155;Dels=0.00;FS=3.995;HRun=0;HaplotypeScore=12.0614;MQ=57;MQ0=0;MQRankSum=2.255;QD=9.33;ReadPosRankSum=1.500;SB=-901.88;TI=NM_001161587,NR_027763,NM_002103;GI=GYS1,GYS1,GYS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,61:155:99:1476,0,2401:57:99:0.401 chr19 49519466 rs1056917 A G 3358.78 PASS BaseQRankSum=0.415;DP=237;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.7219;MQ=53;MQ0=0;MQRankSum=2.005;QD=14.17;ReadPosRankSum=2.313;SB=-2342.36;TI=NM_000894;GI=LHB;FC=Synonymous_G95G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,146:237:99:3359,0,2030:53:99:0.619 chr19 49519793 rs2387588 A G 612.07 PASS BaseQRankSum=0.745;DP=78;Dels=0.00;FS=3.435;HRun=2;HaplotypeScore=2.7880;MQ=52;MQ0=0;MQRankSum=-3.943;QD=7.85;ReadPosRankSum=-1.693;SB=-315.07;TI=NM_000894;GI=LHB;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,28:78:99:642,0,1434:52:99:0.359 chr19 49519873 rs6521;rs72626226 G C 435.00 PASS BaseQRankSum=1.202;DP=141;Dels=0.00;FS=3.430;HRun=1;HaplotypeScore=5.3097;MQ=47;MQ0=7;MQRankSum=-9.121;QD=3.09;ReadPosRankSum=2.791;SB=-191.75;TI=NM_000894;GI=LHB;FC=Synonymous_V38V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,48:141:99:465,0,2413:47:99:0.340 chr19 49519883 rs6515;rs34349826 A G 363.35 PASS BaseQRankSum=1.945;DP=138;Dels=0.01;FS=2.273;HRun=2;HaplotypeScore=5.4153;MQ=47;MQ0=7;MQRankSum=-8.942;QD=2.63;ReadPosRankSum=3.209;SB=-163.42;TI=NM_000894;GI=LHB;FC=Missense_I35T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,45:137:99:393,0,2431:47:99:0.328 chr19 49519905 rs1800447 A G 442.34 PASS BaseQRankSum=0.806;DP=140;Dels=0.00;FS=5.065;HRun=0;HaplotypeScore=4.5423;MQ=47;MQ0=6;MQRankSum=-9.224;QD=3.16;ReadPosRankSum=-0.155;SB=-157.79;TI=NM_000894;GI=LHB;FC=Missense_W28R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,51:140:99:472,0,2372:47:99:0.364 chr19 49657710 rs66501117 ACAT A 431.73 R8;LowDP DP=18;FS=0.000;HRun=0;HaplotypeScore=33.8000;MQ=57;MQ0=0;QD=23.99;SB=-177.67;TI=NM_002152;GI=HRC;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:9,8:18:30.10:474,30,0:57:30:0.471 chr19 49657889 . T TTCC 622.16 PASS DP=23;FS=0.000;HRun=0;HaplotypeScore=38.7233;MQ=60;MQ0=0;QD=27.05;SB=-46.80;TI=NM_002152;GI=HRC;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:10,13:23:42.14:664,42,0:60:42:0.565 chr19 49658209 rs3745297 A C 335.46 LowGQ;LowDP DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=27.96;SB=-232.75;TI=NM_002152;GI=HRC;FC=Missense_S96A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,12:12:27.09:368,27,0:57:27:1.000 chr19 49658367 rs3745298 C T 104.20 LowGQ;SB;LowDP DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=26.05;SB=-0.01;TI=NM_002152;GI=HRC;FC=Missense_S43N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,4:4:12.03:137,12,0:54:12:1.000 chr19 49658390 rs3745299 T C 41.51 LowGQX;LowGQ;SB;LowDP DP=2;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=47;MQ0=0;QD=20.75;SB=-0.01;TI=NM_002152;GI=HRC;FC=Synonymous_L35L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,2:2:6.02:73,6,0:47:6:1.000 chr19 49964977 rs1320303 C G 3835.84 PASS BaseQRankSum=1.679;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9723;MQ=53;MQ0=0;MQRankSum=1.466;QD=29.51;ReadPosRankSum=-0.426;SB=-1759.09;TI=NM_001145396,NM_153329;GI=ALDH16A1,ALDH16A1;FC=Missense_L227V,Missense_L227V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,129:130:99:3836,286,0:53:99:0.992 chr19 49967981 rs11558188 T G 635.96 PASS DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=30.28;SB=-200.68;TI=NM_001145396,NM_153329;GI=ALDH16A1,ALDH16A1;FC=Synonymous_V459V,Synonymous_V510V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,21:21:51.15:669,51,0:55:51:1.000 chr19 49969085 rs10853810 C T 7027.14 PASS BaseQRankSum=2.403;DP=265;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2227;MQ=55;MQ0=0;MQRankSum=0.597;QD=26.52;ReadPosRankSum=-1.968;SB=-4672.82;TI=NM_001145396,NM_153329;GI=ALDH16A1,ALDH16A1;FC=Synonymous_N502N,Synonymous_N553N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,263:265:99:7027,500,0:55:99:0.992 chr19 50312653 rs2305921 C T 574.03 PASS BaseQRankSum=1.430;DP=39;Dels=0.00;FS=2.835;HRun=0;HaplotypeScore=2.9909;MQ=59;MQ0=0;MQRankSum=-0.581;QD=14.72;ReadPosRankSum=-0.297;SB=-351.97;TI=NM_025129,NM_001171937,NR_033269;GI=FUZ,FUZ,FUZ;FC=Synonymous_L224L,Synonymous_L188L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,22:39:99:604,0,534:59:99:0.564 chr19 50411742 rs892028 A G 1431.58 PASS DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=28.63;SB=-842.93;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Synonymous_D441D,Synonymous_D441D,Synonymous_D441D,Synonymous_D441D,Synonymous_D441D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:50:99:1465,105,0:54:99:1.000 chr19 50412417 rs999583 G A 556.18 LowDP DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=30.90;SB=-121.30;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Synonymous_S216S,Synonymous_S216S,Synonymous_S216S,Synonymous_S216S,Synonymous_S216S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,18:18:45.14:589,45,0:58:45:1.000 chr19 50435747 rs283525 T C 3450.95 PASS BaseQRankSum=3.480;DP=121;Dels=0.00;FS=5.402;HRun=3;HaplotypeScore=62.2022;MQ=47;MQ0=0;MQRankSum=2.274;QD=28.52;ReadPosRankSum=0.090;SB=-1124.24;TI=NM_012068,NM_001193646;GI=ATF5,ATF5;FC=Synonymous_L83L,Synonymous_L83L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:6,115:121:99:3451,237,0:47:99:0.950 chr19 50435862 rs283526 C T 1841.57 PASS BaseQRankSum=0.899;DP=70;Dels=0.00;FS=12.833;HRun=0;HaplotypeScore=7.9679;MQ=39;MQ0=0;MQRankSum=1.508;QD=26.31;ReadPosRankSum=2.117;SB=-425.63;TI=NM_012068,NM_001193646;GI=ATF5,ATF5;FC=Missense_P121L,Missense_P121L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,67:70:83.85:1875,84,0:39:84:0.957 chr19 50435922 . T C 54.69 LowVariantFreq;SB BaseQRankSum=-1.538;DP=39;Dels=0.00;FS=33.698;HRun=5;HaplotypeScore=13.3457;MQ=34;MQ0=0;MQRankSum=-2.472;QD=1.40;ReadPosRankSum=-0.720;SB=-0.01;TI=NM_012068,NM_001193646;GI=ATF5,ATF5;FC=Missense_L141P,Missense_L141P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,6:39:84.69:85,0,878:34:55:0.154 chr19 50435939 . T C 14.66 LowVariantFreq;SB BaseQRankSum=-1.010;DP=42;Dels=0.00;FS=25.298;HRun=4;HaplotypeScore=14.4499;MQ=37;MQ0=0;MQRankSum=-0.311;QD=0.35;ReadPosRankSum=-1.437;SB=-0.01;TI=NM_012068,NM_001193646;GI=ATF5,ATF5;FC=Missense_S147P,Missense_S147P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,5:42:44.50:44,0,973:37:15:0.119 chr19 50713713 rs590722 C A 640.77 PASS BaseQRankSum=0.076;DP=48;Dels=0.00;FS=1.158;HRun=0;HaplotypeScore=2.7840;MQ=53;MQ0=0;MQRankSum=0.661;QD=13.35;ReadPosRankSum=-0.770;SB=-368.17;TI=NM_001145809,NM_024729,NM_001077186;GI=MYH14,MYH14,MYH14;FC=Missense_P31T,Missense_P31T,Missense_P31T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,28:48:99:671,0,464:53:99:0.596 chr19 50726570 rs4801822 G A 2508.76 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=56;MQ0=0;QD=30.97;SB=-1044.79;TI=NM_001145809,NM_024729,NM_001077186;GI=MYH14,MYH14,MYH14;FC=Synonymous_A219A,Synonymous_A219A,Synonymous_A219A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:81:99:2542,187,0:56:99:1.000 chr19 50760716 rs378811 C G 1219.73 PASS BaseQRankSum=0.514;DP=113;Dels=0.00;FS=2.410;HRun=1;HaplotypeScore=9.1269;MQ=49;MQ0=0;MQRankSum=-1.519;QD=10.79;ReadPosRankSum=-1.008;SB=-833.33;TI=NM_001145809,NM_024729,NM_001077186;GI=MYH14,MYH14,MYH14;FC=Synonymous_R735R,Synonymous_R694R,Synonymous_R702R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,56:113:99:1250,0,1320:49:99:0.496 chr19 50762418 rs1651553 A G 250.08 PASS BaseQRankSum=-0.460;DP=29;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.636;QD=8.62;ReadPosRankSum=-1.908;SB=-175.51;TI=NM_001145809,NM_024729,NM_001077186;GI=MYH14,MYH14,MYH14;FC=Synonymous_P750P,Synonymous_P709P,Synonymous_P717P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,13:29:99:280,0,457:58:99:0.448 chr19 50770275 . C G 22.80 SB BaseQRankSum=-2.182;DP=20;Dels=0.00;FS=6.726;HRun=5;HaplotypeScore=10.8777;MQ=36;MQ0=0;MQRankSum=-1.309;QD=1.14;ReadPosRankSum=0.000;SB=-0.01;TI=NM_001145809,NM_024729,NM_001077186;GI=MYH14,MYH14,MYH14;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,5:20:52.77:53,0,354:36:23:0.250 chr19 50771609 rs3745504 G A 3148.72 PASS DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=28.37;SB=-1507.73;TI=NM_001145809,NM_024729,NM_001077186;GI=MYH14,MYH14,MYH14;FC=Synonymous_L1006L,Synonymous_L965L,Synonymous_L973L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,111:111:99:3182,229,0:56:99:1.000 chr19 50771635 rs930086 T C 1775.24 PASS DP=53;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=2.8922;MQ=56;MQ0=0;QD=33.50;SB=-349.47;TI=NM_001145809,NM_024729,NM_001077186;GI=MYH14,MYH14,MYH14;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,53:53:99:1808,135,0:56:99:1.000 chr19 50779245 rs78192108 C T 533.31 PASS BaseQRankSum=0.658;DP=53;Dels=0.00;FS=1.513;HRun=0;HaplotypeScore=3.7878;MQ=57;MQ0=0;MQRankSum=1.769;QD=10.06;ReadPosRankSum=0.232;SB=-138.51;TI=NM_001145809,NM_024729,NM_001077186;GI=MYH14,MYH14,MYH14;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,22:53:99:563,0,877:57:99:0.423 chr19 50779469 rs76579307 C T 1500.52 PASS BaseQRankSum=1.933;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.9974;MQ=57;MQ0=0;MQRankSum=0.574;QD=12.94;ReadPosRankSum=0.669;SB=-514.96;TI=NM_001145809,NM_024729,NM_001077186;GI=MYH14,MYH14,MYH14;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,59:116:99:1531,0,1392:57:99:0.513 chr19 50796905 rs3745509 G A 3725.15 PASS DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=54;MQ0=0;QD=28.65;SB=-2091.66;TI=NM_001145809,NM_024729,NM_001077186;GI=MYH14,MYH14,MYH14;FC=Synonymous_S1810S,Synonymous_S1769S,Synonymous_S1777S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:3725,271,0:54:99:1.000 chr19 50881054 rs55671147 G A 2282.05 PASS BaseQRankSum=2.961;DP=209;Dels=0.00;FS=8.091;HRun=1;HaplotypeScore=21.6817;MQ=52;MQ0=0;MQRankSum=0.933;QD=10.92;ReadPosRankSum=-0.326;SB=-1580.60;TI=NM_007121;GI=NR1H2;FC=Synonymous_E36E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,101:209:99:2312,0,2601:52:99:0.483 chr19 50881820 rs55652650 A AAAC 10446.28 PASS DP=185;FS=0.000;HRun=0;HaplotypeScore=152.7975;MQ=58;MQ0=0;QD=56.47;SB=-4867.91;TI=NM_007121;GI=NR1H2;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:7,177:185:99:10446,551,0:58:99:0.962 chr19 51228634 rs11084024 G A 1516.32 PASS BaseQRankSum=0.448;DP=116;Dels=0.00;FS=2.479;HRun=2;HaplotypeScore=8.8382;MQ=53;MQ0=0;MQRankSum=1.349;QD=13.07;ReadPosRankSum=-0.166;SB=-873.83;TI=NM_002975;GI=CLEC11A;FC=Synonymous_E294E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,61:116:99:1546,0,1342:53:99:0.526 chr19 51323232 rs5517 T C 1185.65 PASS BaseQRankSum=-0.481;DP=100;Dels=0.00;FS=4.055;HRun=0;HaplotypeScore=19.0997;MQ=53;MQ0=0;MQRankSum=0.368;QD=11.86;ReadPosRankSum=1.175;SB=-435.27;TI=NM_002257;GI=KLK1;FC=Missense_K186E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,46:100:99:1216,0,1482:53:99:0.465 chr19 51323473 rs5516 C G 4569.18 PASS BaseQRankSum=0.993;DP=164;Dels=0.00;FS=3.037;HRun=2;HaplotypeScore=6.4104;MQ=51;MQ0=0;MQRankSum=0.084;QD=27.86;ReadPosRankSum=-0.444;SB=-3072.10;TI=NM_002257;GI=KLK1;FC=Missense_E145Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,163:164:99:4569,304,0:51:99:0.994 chr19 51323501 rs1054713 A G 4434.06 PASS BaseQRankSum=-0.044;DP=156;Dels=0.00;FS=3.396;HRun=0;HaplotypeScore=6.4491;MQ=52;MQ0=0;MQRankSum=-1.443;QD=28.42;ReadPosRankSum=0.444;SB=-2671.20;TI=NM_002257;GI=KLK1;FC=Synonymous_D135D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,155:156:99:4434,293,0:52:99:0.994 chr19 51330423 rs61752560 C G 1264.13 PASS BaseQRankSum=-0.306;DP=129;Dels=0.00;FS=5.436;HRun=3;HaplotypeScore=2.7855;MQ=54;MQ0=0;MQRankSum=1.681;QD=9.80;ReadPosRankSum=2.946;SB=-811.65;TI=NM_138563,NM_017509,NM_138564;GI=KLK15,KLK15,KLK15;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,54:129:99:1294,0,1861:54:99:0.422 chr19 51330932 rs3745522 G T 1291.87 PASS BaseQRankSum=2.414;DP=105;Dels=0.00;FS=3.643;HRun=0;HaplotypeScore=8.1927;MQ=53;MQ0=0;MQRankSum=1.702;QD=12.30;ReadPosRankSum=1.446;SB=-730.76;TI=NM_138563,NM_017509,NM_138564;GI=KLK15,KLK15,KLK15;FC=Synonymous_A61A,Synonymous_A61A,Synonymous_A61A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,51:105:99:1322,0,1266:53:99:0.486 chr19 51359497 rs11573 T C 2128.51 PASS BaseQRankSum=2.138;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5487;MQ=54;MQ0=0;MQRankSum=0.998;QD=13.91;ReadPosRankSum=-1.454;SB=-1082.00;TI=NM_001030050,NM_001030047,NM_001648,NM_001030048;GI=KLK3,KLK3,KLK3,KLK3;FC=Unknown_16,Unknown_16,Unknown_16,Unknown_16;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,86:153:99:2159,0,1565:54:99:0.562 chr19 51359503 rs1135766 A G 2216.87 PASS BaseQRankSum=2.040;DP=166;Dels=0.00;FS=2.834;HRun=0;HaplotypeScore=4.5213;MQ=53;MQ0=0;MQRankSum=2.290;QD=13.35;ReadPosRankSum=-0.927;SB=-1132.77;TI=NM_001030050,NM_001030047,NM_001648,NM_001030048;GI=KLK3,KLK3,KLK3,KLK3;FC=Synonymous_A18A,Synonymous_A18A,Synonymous_A18A,Synonymous_A18A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,93:166:99:2247,0,1596:53:99:0.560 chr19 51411636 rs2569527 G T 1970.24 PASS DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=54;MQ0=0;QD=27.36;SB=-1019.74;TI=NM_004917;GI=KLK4;FC=Missense_H197Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:2003,141,0:54:99:1.000 chr19 51412666 rs1654552 C A 564.90 PASS BaseQRankSum=-0.853;DP=45;Dels=0.00;FS=3.595;HRun=0;HaplotypeScore=3.5215;MQ=58;MQ0=0;MQRankSum=-0.694;QD=12.55;ReadPosRankSum=-0.876;SB=-53.02;TI=NM_004917;GI=KLK4;FC=Synonymous_S22S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,21:45:99:595,0,705:58:99:0.467 chr19 51485622 rs2659067 A G 7249.00 PASS DP=255;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6767;MQ=53;MQ0=0;QD=28.43;SB=-3896.21;TI=NM_139277,NM_005046;GI=KLK7,KLK7;FC=Synonymous_L12L,Synonymous_L12L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,255:255:99:7249,524,0:53:99:1.000 chr19 51487175 rs1624358 T G 7035.01 PASS DP=249;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.2551;MQ=52;MQ0=0;QD=28.25;SB=-3790.45 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,249:249:99:7035,512,0:52:99:1.000 chr19 51535130 rs3745540 A G 553.11 SB BaseQRankSum=0.615;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6546;MQ=59;MQ0=0;MQRankSum=0.655;QD=17.84;ReadPosRankSum=-0.496;SB=-0.01;TI=NM_145895,NM_145894,NM_019598;GI=KLK12,KLK12,KLK12;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,17:31:99:583,0,457:59:99:0.548 chr19 51850290 rs1130426 G A 3212.46 PASS BaseQRankSum=1.678;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5791;MQ=54;MQ0=0;MQRankSum=0.487;QD=25.10;ReadPosRankSum=0.487;SB=-2189.93;TI=NM_001014763,NM_001985;GI=ETFB,ETFB;FC=Missense_T245M,Missense_T154M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,127:128:99:3245,206,0:54:99:0.992 chr19 52000624 rs3752135 T G 1794.76 PASS DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=27.19;SB=-1170.43;TI=NM_033329,NM_053003;GI=SIGLEC12,SIGLEC12;FC=Missense_Y376S,Missense_Y494S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:66:99:1828,132,0:51:99:1.000 chr19 52000672 rs3829658 G A 2392.98 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8835;MQ=50;MQ0=0;QD=27.83;SB=-1485.65;TI=NM_033329,NM_053003;GI=SIGLEC12,SIGLEC12;FC=Missense_T360M,Missense_T478M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:86:99:2426,175,0:50:99:1.000 chr19 52001485 rs11668530 G A 3993.76 PASS DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=54;MQ0=0;QD=32.21;SB=-1961.73;TI=NM_033329,NM_053003;GI=SIGLEC12,SIGLEC12;FC=Missense_H280Y,Missense_H398Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,124:124:99:3994,295,0:54:99:1.000 chr19 52002729 rs2009362 G A 4920.09 PASS DP=160;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=13.8529;MQ=53;MQ0=0;QD=30.75;SB=-2979.86;TI=NM_033329,NM_053003;GI=SIGLEC12,SIGLEC12;FC=Synonymous_G232G,Synonymous_G350G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,159:159:99:4920,361,0:53:99:1.000 chr19 52003331 rs6509544 G C 2347.46 PASS DP=71;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=33.06;SB=-1327.50;TI=NM_033329,NM_053003;GI=SIGLEC12,SIGLEC12;FC=Missense_H99Q,Missense_H217Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:2380,178,0:57:99:1.000 chr19 52004551 rs3810109 C T 3765.97 PASS BaseQRankSum=1.987;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.4624;MQ=54;MQ0=0;MQRankSum=-1.840;QD=28.32;ReadPosRankSum=-1.636;SB=-2096.51;TI=NM_053003;GI=SIGLEC12;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,131:133:99:3766,237,0:54:99:0.985 chr19 52004743 rs3810110 G A 4618.10 PASS DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3095;MQ=58;MQ0=0;QD=31.63;SB=-2171.90;TI=NM_053003;GI=SIGLEC12;FC=Missense_A82V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:4618,346,0:58:99:1.000 chr19 52004791 . G GC 7080.76 PASS DP=194;FS=0.000;HRun=3;HaplotypeScore=1391.0106;MQ=58;MQ0=0;QD=36.50;SB=-2848.82;TI=NM_053003;GI=SIGLEC12;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:22,172:194:99:7081,568,0:58:99:0.887 chr19 52004795 rs61742108 G T 6062.84 PASS DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=191.5588;MQ=58;MQ0=0;QD=31.09;SB=-3000.46;TI=NM_053003;GI=SIGLEC12;FC=Synonymous_R65R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,193:195:99:6063,451,0:58:99:1.000 chr19 52149716 rs1973019 A G 505.61 SB BaseQRankSum=1.542;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=16;MQ0=52;MQRankSum=-0.385;QD=7.22;ReadPosRankSum=1.542;SB=-0.01;TI=NM_001098612;GI=SIGLEC14;FC=Missense_V72A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:33,37:70:45.13:539,45,0:16:45:0.529 chr19 52220351 rs11084111 G A 2041.59 PASS BaseQRankSum=2.353;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.7114;MQ=57;MQ0=0;MQRankSum=2.016;QD=11.53;ReadPosRankSum=1.897;SB=-1470.15;TI=NM_001523;GI=HAS1;FC=Synonymous_D266D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,92:177:99:2072,0,1963:57:99:0.523 chr19 52222552 rs11084112 G A 1295.55 PASS BaseQRankSum=1.449;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0425;MQ=55;MQ0=0;MQRankSum=0.279;QD=11.47;ReadPosRankSum=0.412;SB=-712.69;TI=NM_001523;GI=HAS1;FC=Synonymous_R203R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,52:113:99:1326,0,1431:55:99:0.460 chr19 52223121 rs7248778 A G 2554.27 PASS DP=95;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.3882;MQ=53;MQ0=0;QD=26.89;SB=-1560.76;TI=NM_001523;GI=HAS1;FC=Missense_C14R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:2587,187,0:53:99:1.000 chr19 52249211 rs867228 T G 592.24 PASS BaseQRankSum=0.644;DP=43;Dels=0.00;FS=1.331;HRun=0;HaplotypeScore=2.6823;MQ=56;MQ0=0;MQRankSum=-0.207;QD=13.77;ReadPosRankSum=-1.324;SB=-166.93;TI=NM_001193306,NM_002029;GI=FPR1,FPR1;FC=Missense_E346A,Missense_E346A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,22:43:99:622,0,517:56:99:0.512 chr19 52249947 rs2070745 C G 912.58 PASS BaseQRankSum=-0.261;DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9998;MQ=58;MQ0=0;MQRankSum=0.271;QD=11.55;ReadPosRankSum=-0.635;SB=-590.93;TI=NM_001193306,NM_002029;GI=FPR1,FPR1;FC=Missense_V101L,Missense_V101L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,36:79:99:943,0,1160:58:99:0.456 chr19 52803669 rs3217319 CTG C 3441.03 PASS DP=71;FS=0.000;HRun=0;HaplotypeScore=18.2136;MQ=55;MQ0=0;QD=48.47;SB=-1308.59;TI=NM_144684;GI=ZNF480;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:3441,214,0:55:99:1.000 chr19 52825032 rs13343641 C T 113.03 LowGQ;SB;LowDP BaseQRankSum=-0.731;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.731;QD=22.61;ReadPosRankSum=0.731;SB=-0.01;TI=NM_144684;GI=ZNF480;FC=Missense_P177S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,4:5:25.60:143,0,26:60:26:0.800 chr19 52825235 rs8102373 A G 1608.91 PASS BaseQRankSum=-0.632;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5133;MQ=56;MQ0=0;MQRankSum=1.919;QD=14.90;ReadPosRankSum=1.851;SB=-605.94;TI=NM_144684;GI=ZNF480;FC=Synonymous_S244S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,58:108:99:1639,0,1285:56:99:0.537 chr19 54307322 rs12460528 G A 677.65 PASS BaseQRankSum=0.532;DP=110;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2929;MQ=53;MQ0=0;MQRankSum=1.290;QD=6.16;ReadPosRankSum=-0.455;SB=-533.58;TI=NM_033297,NM_144687;GI=NLRP12,NLRP12;FC=Synonymous_L106L,Synonymous_L823L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,36:110:99:708,0,1873:53:99:0.327 chr19 54308554 rs4806773 C T 1670.45 PASS DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9969;MQ=49;MQ0=0;QD=26.52;SB=-949.34;TI=NM_033297,NM_144687;GI=NLRP12,NLRP12;FC=Synonymous_Q81Q,Synonymous_Q798Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1703,126,0:49:99:1.000 chr19 54308937 rs12610233 C A 91.45 LowDP BaseQRankSum=-0.264;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.845;QD=5.38;ReadPosRankSum=1.107;SB=-56.95;TI=NM_033297,NM_144687;GI=NLRP12,NLRP12;FC=Missense_M1I,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,5:17:99:121,0,298:55:91:0.294 chr19 54327313 rs34436714 C A 1088.80 PASS BaseQRankSum=0.888;DP=110;Dels=0.00;FS=2.466;HRun=0;HaplotypeScore=2.8855;MQ=54;MQ0=0;MQRankSum=1.553;QD=9.90;ReadPosRankSum=0.085;SB=-682.78;TI=NM_144687;GI=NLRP12;FC=Missense_G39V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,47:110:99:1119,0,1597:54:99:0.427 chr19 54385820 rs2547362 C T 1567.63 PASS BaseQRankSum=1.636;DP=136;Dels=0.00;FS=0.676;HRun=0;HaplotypeScore=13.1447;MQ=54;MQ0=0;MQRankSum=1.685;QD=11.53;ReadPosRankSum=-0.682;SB=-964.44;TI=NM_002739;GI=PRKCG;FC=Synonymous_A24A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,71:136:99:1598,0,1385:54:99:0.530 chr19 54387497 rs17854523 C T 1162.96 PASS BaseQRankSum=-0.102;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5143;MQ=54;MQ0=0;MQRankSum=2.492;QD=10.77;ReadPosRankSum=-1.790;SB=-633.50;TI=NM_002739;GI=PRKCG;FC=Synonymous_D95D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,50:108:99:1193,0,1470:54:99:0.463 chr19 54632423 rs655240 T C 2545.25 PASS DP=87;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=29.26;SB=-1066.51;TI=NM_015629;GI=PRPF31;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2578,190,0:55:99:1.000 chr19 54634871 . C T 1291.62 PASS BaseQRankSum=-0.105;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6766;MQ=56;MQ0=0;MQRankSum=2.769;QD=15.02;ReadPosRankSum=0.554;SB=-688.12;TI=NM_015629;GI=PRPF31;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,51:86:99:1322,0,845:56:99:0.593 chr19 54649436 . C A 21.39 SB;LowDP BaseQRankSum=-0.067;DP=9;Dels=0.00;FS=3.522;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.067;QD=2.38;ReadPosRankSum=0.067;SB=-0.01;TI=NM_014516;GI=CNOT3;FC=Missense_L196I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,2:9:51.35:51,0,257:60:21:0.222 chr19 54649671 rs36665 T C 844.27 PASS DP=33;Dels=0.03;FS=0.000;HRun=4;HaplotypeScore=8.2483;MQ=54;MQ0=0;QD=25.58;SB=-525.50;TI=NM_014516;GI=CNOT3;FC=Synonymous_P243P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,32:32:63.21:877,63,0:54:63:1.000 chr19 54652203 rs43211 T C 2023.05 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=31.61;SB=-851.58;TI=NM_014516;GI=CNOT3;FC=Synonymous_G405G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:2056,153,0:55:99:1.000 chr19 54695254 . G A 207.64 PASS BaseQRankSum=0.471;DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=54;MQ0=0;MQRankSum=1.340;QD=9.89;ReadPosRankSum=0.616;SB=-97.87;TI=NM_024075,NM_001077446;GI=TSEN34,TSEN34;FC=Synonymous_V13V,Synonymous_V13V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,8:21:99:238,0,328:54:99:0.381 chr19 54697079 rs7595 C T 1295.31 PASS BaseQRankSum=0.885;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5247;MQ=52;MQ0=0;MQRankSum=0.733;QD=11.88;ReadPosRankSum=0.058;SB=-864.60;TI=NM_024075,NM_001077446;GI=TSEN34,TSEN34;FC=Synonymous_P265P,Synonymous_P265P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,59:109:99:1325,0,1175:52:99:0.541 chr19 54801957 . G C 796.05 SB BaseQRankSum=0.034;DP=45;Dels=0.00;FS=10.651;HRun=0;HaplotypeScore=7.0359;MQ=57;MQ0=0;MQRankSum=2.059;QD=17.69;ReadPosRankSum=-1.263;SB=-0.01;TI=NM_001172654,NM_006865;GI=LILRA3,LILRA3;FC=Missense_P347A,Missense_P411A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,24:45:99:826,0,557:57:99:0.533 chr19 55250036 rs72487145 T C 2153.42 PASS BaseQRankSum=4.180;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4156;MQ=47;MQ0=0;MQRankSum=-1.694;QD=13.05;ReadPosRankSum=0.035;SB=-1562.95;TI=NM_015868;GI=KIR2DL3;FC=Missense_V9A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,103:165:99:2183,0,1218:47:99:0.624 chr19 55250979 . C A 342.42 LowVariantFreq BaseQRankSum=2.195;DP=174;Dels=0.00;FS=12.056;HRun=0;HaplotypeScore=5.5585;MQ=48;MQ0=5;MQRankSum=-4.782;QD=1.97;ReadPosRankSum=-1.131;SB=-117.83;TI=NM_015868;GI=KIR2DL3;FC=Missense_P21T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:146,28:174:99:372,0,3648:48:99:0.161 chr19 55253422 rs34235630;rs78550816 C T 121.69 SB BaseQRankSum=0.825;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=35;MQ0=10;MQRankSum=-1.031;QD=5.79;ReadPosRankSum=0.387;SB=-0.01;TI=NM_015868;GI=KIR2DL3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,6:21:99:152,0,155:35:99:0.286 chr19 55253465 rs613240;rs78036355 C G 25.90 LowVariantFreq;SB BaseQRankSum=-0.423;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=35;MQ0=10;MQRankSum=2.113;QD=1.13;ReadPosRankSum=1.437;SB=-0.01;TI=NM_015868;GI=KIR2DL3;FC=Missense_P37R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,3:23:55.88:56,0,217:35:26:0.130 chr19 55253521 rs35719984;rs72487157;rs78381022 C G 214.60 LowDP BaseQRankSum=-0.930;DP=15;Dels=0.00;FS=3.090;HRun=0;HaplotypeScore=0.0000;MQ=49;MQ0=2;MQRankSum=-0.254;QD=14.31;ReadPosRankSum=0.930;SB=-157.43;TI=NM_015868;GI=KIR2DL3;FC=Missense_Q56E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,11:15:53.57:245,0,54:49:54:0.733 chr19 55253544 rs633870;rs34790392;rs77568304 A G 98.84 LowDP BaseQRankSum=0.597;DP=12;Dels=0.00;FS=2.398;HRun=3;HaplotypeScore=0.0000;MQ=54;MQ0=1;MQRankSum=-1.769;QD=8.24;ReadPosRankSum=1.246;SB=-54.84;TI=NM_015868;GI=KIR2DL3;FC=Synonymous_E63E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,4:12:99:129,0,167:54:99:0.333 chr19 55253552 rs673568;rs78713511 T A 100.82 LowDP BaseQRankSum=-0.278;DP=11;Dels=0.00;FS=2.398;HRun=0;HaplotypeScore=0.9997;MQ=56;MQ0=0;MQRankSum=-1.398;QD=9.17;ReadPosRankSum=0.278;SB=-56.83;TI=NM_015868;GI=KIR2DL3;FC=Missense_F66Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,4:11:99:131,0,172:56:99:0.364 chr19 55253601 rs614034;rs74487037 G A 133.89 LowDP BaseQRankSum=-0.271;DP=16;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=52;MQ0=0;MQRankSum=0.054;QD=8.37;ReadPosRankSum=0.488;SB=-62.60;TI=NM_015868;GI=KIR2DL3;FC=Synonymous_K82K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,6:16:99:164,0,321:52:99:0.375 chr19 55258778 rs34843749 G A 114.93 LowDP BaseQRankSum=-1.036;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=42;MQ0=2;MQRankSum=1.568;QD=9.58;ReadPosRankSum=-0.365;SB=-69.26;TI=NM_015868;GI=KIR2DL3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,7:12:71.48:145,0,71:42:71:0.583 chr19 55258808 rs35861855 C T 44.50 LowDP BaseQRankSum=0.729;DP=11;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=40;MQ0=2;MQRankSum=2.219;QD=4.05;ReadPosRankSum=-1.881;SB=-66.25;TI=NM_015868;GI=KIR2DL3;FC=Missense_P229L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,4:11:74.49:74,0,108:40:45:0.364 chr19 55263898 rs1049267;rs78177475 G A,C 684.18 LowGQ DP=30;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=22.81;SB=-427.97;TI=NM_015868;GI=KIR2DL3;FC=Missense_R318H/Missense_R318P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:0,25,3:30:28.09:742,79,28,662,0,656:52:28:1.000 chr19 55281315 rs2304224 G T 818.15 PASS BaseQRankSum=1.171;DP=106;Dels=0.00;FS=0.753;HRun=1;HaplotypeScore=8.7682;MQ=52;MQ0=2;MQRankSum=3.306;QD=7.72;ReadPosRankSum=0.845;SB=-646.58;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Missense_V5F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,41:106:99:848,0,1446:52:99:0.387 chr19 55284824 rs35509911 G C 118.28 LowDP BaseQRankSum=-0.634;DP=18;Dels=0.00;FS=4.393;HRun=2;HaplotypeScore=0.0000;MQ=42;MQ0=0;MQRankSum=-1.359;QD=6.57;ReadPosRankSum=-0.725;SB=-49.38;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Missense_R37P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,7:18:99:148,0,258:42:99:0.389 chr19 55284858 rs687000 G A 469.34 LowDP DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=42;MQ0=0;QD=26.07;SB=-246.90;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Synonymous_Q48Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,18:18:39.12:502,39,0:42:39:1.000 chr19 55285072 . A G 3.16 LowGQX;SB;LowDP BaseQRankSum=-0.731;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.731;QD=0.63;ReadPosRankSum=0.731;SB=-0.01;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Missense_I120V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,1:5:30.28:30,0,81:60:3:0.200 chr19 55286650 rs1049202;rs11673144;rs72626292 T C 2411.47 PASS DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=52;MQ0=1;QD=29.05;SB=-1150.26;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Missense_L135P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2444,181,0:52:99:1.000 chr19 55286769 rs74456429 C A 608.85 PASS BaseQRankSum=0.184;DP=50;Dels=0.00;FS=3.965;HRun=0;HaplotypeScore=3.8643;MQ=57;MQ0=0;MQRankSum=1.486;QD=12.18;ReadPosRankSum=0.845;SB=-243.05;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Missense_P175T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,24:50:99:639,0,807:57:99:0.480 chr19 55286795 rs12982263 T C 940.70 PASS BaseQRankSum=-1.199;DP=57;Dels=0.00;FS=2.422;HRun=1;HaplotypeScore=11.7230;MQ=55;MQ0=0;MQRankSum=-1.514;QD=16.50;ReadPosRankSum=-1.249;SB=-499.36;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Synonymous_A183A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,36:57:99:971,0,663:55:99:0.632 chr19 55286796 . G A 677.19 PASS BaseQRankSum=-0.267;DP=59;Dels=0.00;FS=1.052;HRun=1;HaplotypeScore=13.4838;MQ=54;MQ0=0;MQRankSum=0.053;QD=11.48;ReadPosRankSum=0.786;SB=-269.11;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Missense_D184N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,26:59:99:707,0,985:54:99:0.441 chr19 55286822 rs28465191;rs74459852 C T 675.30 PASS BaseQRankSum=0.937;DP=67;Dels=0.00;FS=1.134;HRun=0;HaplotypeScore=25.6583;MQ=53;MQ0=1;MQRankSum=0.017;QD=10.08;ReadPosRankSum=0.173;SB=-215.41;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Synonymous_H192H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,26:67:99:705,0,816:53:99:0.473 chr19 55286828 . G A 129.30 LowVariantFreq BaseQRankSum=0.833;DP=69;Dels=0.00;FS=8.330;HRun=1;HaplotypeScore=25.7895;MQ=53;MQ0=1;MQRankSum=-3.681;QD=1.87;ReadPosRankSum=1.382;SB=-10.25;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Synonymous_G194G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,11:69:99:159,0,1638:53:99:0.159 chr19 55286854 rs666590;rs76608778;rs78966600 A G 562.72 PASS BaseQRankSum=0.480;DP=73;Dels=0.00;FS=3.526;HRun=0;HaplotypeScore=19.4121;MQ=52;MQ0=1;MQRankSum=1.100;QD=7.71;ReadPosRankSum=-1.015;SB=-204.64;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Missense_H203R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,25:73:99:593,0,1177:52:99:0.347 chr19 55286864 rs77397437 A C 198.51 PASS BaseQRankSum=1.069;DP=70;Dels=0.00;FS=16.018;HRun=2;HaplotypeScore=17.5456;MQ=52;MQ0=1;MQRankSum=-2.738;QD=2.84;ReadPosRankSum=2.662;SB=-44.24;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Synonymous_P206P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,14:70:99:229,0,1574:52:99:0.203 chr19 55290108 rs75232650 A G 31.20 LowDP BaseQRankSum=-0.354;DP=17;Dels=0.00;FS=2.363;HRun=0;HaplotypeScore=4.4430;MQ=36;MQ0=3;MQRankSum=0.212;QD=1.84;ReadPosRankSum=-0.495;SB=-38.30;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Missense_K237E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,4:17:61.19:61,0,252:36:31:0.235 chr19 55294454 rs34721508 C T 467.11 PASS BaseQRankSum=0.178;DP=71;Dels=0.00;FS=0.967;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.412;QD=6.58;ReadPosRankSum=-0.252;SB=-273.61;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Missense_R266C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,23:71:99:497,0,1192:57:99:0.324 chr19 55294484 rs584011 T C 1826.70 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.54;SB=-843.88;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1860,135,0:57:99:1.000 chr19 55294927 rs670770;rs77983592 A G 2530.17 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=30.48;SB=-1130.68;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2563,190,0:54:99:1.000 chr19 55294931 rs670771;rs74917975 T C 782.95 PASS BaseQRankSum=1.331;DP=90;Dels=0.00;FS=0.861;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.795;QD=8.70;ReadPosRankSum=1.122;SB=-374.96;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,33:90:99:813,0,1559:54:99:0.367 chr19 55294969 rs586234;rs75200129 A G 991.46 PASS BaseQRankSum=3.955;DP=127;Dels=0.00;FS=1.527;HRun=2;HaplotypeScore=4.5321;MQ=53;MQ0=0;MQRankSum=1.903;QD=7.81;ReadPosRankSum=2.546;SB=-516.53;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Synonymous_G283G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,44:127:99:1021,0,2126:53:99:0.346 chr19 55295215 rs2756923 A G 345.86 PASS BaseQRankSum=2.571;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=59;MQ0=0;MQRankSum=0.534;QD=7.86;ReadPosRankSum=1.528;SB=-197.45;TI=NM_001015070,NM_014218;GI=KIR3DP1,KIR2DL1;FC=Silent,Missense_T333A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,17:44:99:376,0,696:59:99:0.395 chr19 55317439 rs2075769 C T 740.53 PASS BaseQRankSum=1.148;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;MQRankSum=0.558;QD=11.39;ReadPosRankSum=-0.899;SB=-340.61;TI=NM_002255,NM_001080770,NM_001080772;GI=KIR2DL4,KIR2DL4,KIR2DL4;FC=Missense_P132L,Missense_P132L,Missense_P132L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,32:65:99:771,0,898:54:99:0.492 chr19 55317524 rs1051455 G A 1081.36 PASS BaseQRankSum=0.712;DP=72;Dels=0.00;FS=0.931;HRun=1;HaplotypeScore=2.8872;MQ=57;MQ0=0;MQRankSum=0.735;QD=15.02;ReadPosRankSum=1.561;SB=-615.39;TI=NM_002255,NM_001080770,NM_001080772;GI=KIR2DL4,KIR2DL4,KIR2DL4;FC=Synonymous_E160E,Synonymous_E160E,Synonymous_E160E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,43:72:99:1111,0,798:57:99:0.597 chr19 55320279 rs687423 G A 1621.83 PASS DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8888;MQ=55;MQ0=0;QD=27.96;SB=-832.80;TI=NM_002255,NM_001080770,NM_001080772;GI=KIR2DL4,KIR2DL4,KIR2DL4;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:1655,117,0:55:99:1.000 chr19 55324635 rs649216 T C 1383.37 PASS BaseQRankSum=0.013;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=58;MQ0=0;MQRankSum=1.381;QD=11.72;ReadPosRankSum=-1.122;SB=-769.32;TI=NM_002255,NM_001080770,NM_001080772;GI=KIR2DL4,KIR2DL4,KIR2DL4;FC=Synonymous_F254F,Silent,Synonymous_F254F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,58:118:99:1413,0,1585:58:99:0.492 chr19 55324674 rs11371265 C CA 1049.52 R8 BaseQRankSum=6.607;DP=107;FS=5.398;HRun=9;HaplotypeScore=404.4417;MQ=59;MQ0=0;MQRankSum=0.723;QD=9.81;ReadPosRankSum=-0.307;SB=-426.69;TI=NM_002255,NM_001080770,NM_001080772;GI=KIR2DL4,KIR2DL4,KIR2DL4;FC=Frameshift,Noncoding,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,46:107:99:1089,0,1287:59:99:0.455 chr19 55327960 rs605219 C T 921.75 PASS BaseQRankSum=1.355;DP=124;Dels=0.00;FS=2.487;HRun=1;HaplotypeScore=8.2673;MQ=45;MQ0=6;MQRankSum=-0.549;QD=7.43;ReadPosRankSum=1.316;SB=-636.28;TI=NM_013289;GI=KIR3DL1;FC=Missense_S2L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,49:124:99:952,0,1584:45:99:0.395 chr19 55328993 rs1142881;rs75779479 G C 1470.05 PASS BaseQRankSum=0.656;DP=138;Dels=0.00;FS=2.201;HRun=0;HaplotypeScore=10.6468;MQ=53;MQ0=0;MQRankSum=0.827;QD=10.65;ReadPosRankSum=0.587;SB=-830.29;TI=NM_013289;GI=KIR3DL1;FC=Missense_L13F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,61:138:99:1500,0,1885:53:99:0.442 chr19 55329021 rs1142882;rs62623407 A G 1436.50 PASS BaseQRankSum=1.072;DP=136;Dels=0.00;FS=0.644;HRun=0;HaplotypeScore=9.9735;MQ=53;MQ0=0;MQRankSum=2.128;QD=10.56;ReadPosRankSum=1.444;SB=-807.65;TI=NM_013289;GI=KIR3DL1;FC=Missense_M23V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,60:136:99:1466,0,1948:53:99:0.441 chr19 55329783 rs642893 A G 1766.36 PASS BaseQRankSum=1.836;DP=139;Dels=0.00;FS=2.347;HRun=0;HaplotypeScore=4.6727;MQ=53;MQ0=0;MQRankSum=0.959;QD=12.71;ReadPosRankSum=0.162;SB=-685.97;TI=NM_013289;GI=KIR3DL1;FC=Synonymous_K28K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,72:139:99:1796,0,1603:53:99:0.518 chr19 55329854 . G A 1709.66 PASS BaseQRankSum=-0.904;DP=175;Dels=0.00;FS=3.670;HRun=0;HaplotypeScore=9.4589;MQ=55;MQ0=0;MQRankSum=1.490;QD=9.77;ReadPosRankSum=-0.084;SB=-771.01;TI=NM_013289;GI=KIR3DL1;FC=Missense_R52H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,71:175:99:1740,0,2544:55:99:0.406 chr19 55329892 . A G 1517.82 PASS BaseQRankSum=0.329;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5761;MQ=57;MQ0=0;MQRankSum=1.042;QD=10.84;ReadPosRankSum=-0.211;SB=-922.96;TI=NM_013289;GI=KIR3DL1;FC=Missense_R65G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,59:140:99:1548,0,2009:57:99:0.421 chr19 55329901 rs643347;rs45556431 A G 2065.23 PASS BaseQRankSum=2.827;DP=147;Dels=0.00;FS=0.620;HRun=0;HaplotypeScore=4.6816;MQ=57;MQ0=0;MQRankSum=1.936;QD=14.05;ReadPosRankSum=0.502;SB=-1359.71;TI=NM_013289;GI=KIR3DL1;FC=Missense_I68V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,83:147:99:2095,0,1642:57:99:0.565 chr19 55329922 rs1049150 A T 2100.88 PASS BaseQRankSum=-0.641;DP=151;Dels=0.00;FS=1.302;HRun=1;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=-0.932;QD=13.91;ReadPosRankSum=-0.069;SB=-1146.06;TI=NM_013289;GI=KIR3DL1;FC=Missense_I75L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,82:151:99:2131,0,1822:57:99:0.543 chr19 55330019 . C T 1458.78 PASS BaseQRankSum=2.603;DP=161;Dels=0.00;FS=4.897;HRun=1;HaplotypeScore=1.8939;MQ=54;MQ0=1;MQRankSum=3.006;QD=9.06;ReadPosRankSum=1.666;SB=-762.00;TI=NM_013289;GI=KIR3DL1;FC=Missense_S107L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,59:161:99:1489,0,2604:54:99:0.366 chr19 55331419 rs2273731;rs78555555 C T 232.58 PASS BaseQRankSum=-1.705;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;MQRankSum=-1.395;QD=10.11;ReadPosRankSum=-1.892;SB=-195.88;TI=NM_013289;GI=KIR3DL1;FC=Missense_P203S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,13:23:99:263,0,254:55:99:0.565 chr19 55333246 rs34481025 C T 469.23 PASS BaseQRankSum=1.873;DP=74;Dels=0.00;FS=0.970;HRun=2;HaplotypeScore=10.8081;MQ=54;MQ0=0;MQRankSum=-1.274;QD=6.34;ReadPosRankSum=0.593;SB=-287.17;TI=NM_013289;GI=KIR3DL1;FC=Synonymous_F294F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,24:74:99:499,0,1364:54:99:0.329 chr19 55333275 rs35974949 G T 567.50 PASS BaseQRankSum=-0.140;DP=83;Dels=0.00;FS=1.938;HRun=1;HaplotypeScore=4.6115;MQ=54;MQ0=0;MQRankSum=1.469;QD=6.84;ReadPosRankSum=-1.084;SB=-393.38;TI=NM_013289;GI=KIR3DL1;FC=Missense_W304L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,28:83:99:597,0,1462:54:99:0.337 chr19 55340835 rs45459293 C T 516.69 PASS BaseQRankSum=2.061;DP=45;Dels=0.00;FS=6.522;HRun=0;HaplotypeScore=3.6821;MQ=52;MQ0=1;MQRankSum=-1.540;QD=11.48;ReadPosRankSum=-0.521;SB=-219.31;TI=NM_013289;GI=KIR3DL1;FC=Synonymous_H340H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,19:45:99:547,0,635:52:99:0.422 chr19 55340836 rs45551936 A G 1338.15 PASS DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6821;MQ=52;MQ0=1;QD=29.74;SB=-753.43;TI=NM_013289;GI=KIR3DL1;FC=Missense_I341V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:45:99:1371,102,0:52:99:1.000 chr19 55340841 . G C 658.30 PASS BaseQRankSum=0.310;DP=53;Dels=0.00;FS=7.938;HRun=0;HaplotypeScore=3.6821;MQ=50;MQ0=3;MQRankSum=-0.750;QD=12.42;ReadPosRankSum=-1.710;SB=-342.40;TI=NM_013289;GI=KIR3DL1;FC=Synonymous_L342L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,25:53:99:688,0,568:50:99:0.481 chr19 55340906 rs45542639 G A 807.63 PASS BaseQRankSum=0.832;DP=61;Dels=0.00;FS=5.504;HRun=0;HaplotypeScore=5.5708;MQ=51;MQ0=0;MQRankSum=-0.461;QD=13.24;ReadPosRankSum=1.248;SB=-292.38;TI=NM_013289;GI=KIR3DL1;FC=Missense_C364Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,33:61:99:838,0,621:51:99:0.550 chr19 55341575 rs1130513 G C 1287.47 PASS DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6443;MQ=56;MQ0=1;QD=29.26;SB=-728.06;TI=NM_013289;GI=KIR3DL1;FC=Missense_E394Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:99:1320,99,0:56:99:1.000 chr19 55341589 . C T 481.14 PASS BaseQRankSum=0.061;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5485;MQ=55;MQ0=1;MQRankSum=1.838;QD=10.94;ReadPosRankSum=-0.037;SB=-325.78;TI=NM_013289;GI=KIR3DL1;FC=Synonymous_Y398Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,20:44:99:511,0,558:55:99:0.455 chr19 55361942 rs652188 G T 1218.76 PASS BaseQRankSum=-0.740;DP=107;Dels=0.00;FS=1.601;HRun=0;HaplotypeScore=3.7862;MQ=49;MQ0=3;MQRankSum=1.273;QD=11.39;ReadPosRankSum=0.905;SB=-986.02;TI=NM_006737;GI=KIR3DL2;FC=Synonymous_T4T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,60:107:99:1249,0,949:49:99:0.561 chr19 55362719 rs639850 G T 1005.73 PASS BaseQRankSum=2.401;DP=84;Dels=0.00;FS=0.813;HRun=1;HaplotypeScore=3.7328;MQ=54;MQ0=0;MQRankSum=-0.451;QD=11.97;ReadPosRankSum=-0.406;SB=-632.93;TI=NM_006737;GI=KIR3DL2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,40:84:99:1036,0,954:54:99:0.482 chr19 55363504 rs3745893 G A 1346.31 PASS BaseQRankSum=1.375;DP=131;Dels=0.00;FS=0.696;HRun=1;HaplotypeScore=7.2533;MQ=53;MQ0=0;MQRankSum=-1.161;QD=10.28;ReadPosRankSum=0.612;SB=-585.87;TI=NM_006737;GI=KIR3DL2;FC=Missense_R41Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,56:131:99:1376,0,2046:53:99:0.427 chr19 55363719 rs3188286;rs17412418 C G 1517.30 PASS BaseQRankSum=2.014;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7600;MQ=52;MQ0=2;MQRankSum=0.993;QD=10.99;ReadPosRankSum=-2.606;SB=-801.81;TI=NM_006737;GI=KIR3DL2;FC=Missense_L113V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,61:138:99:1547,0,1734:52:99:0.442 chr19 55365240 rs3745894 C A 28.34 LowDP BaseQRankSum=-0.254;DP=13;Dels=0.00;FS=2.522;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-2.451;QD=2.18;ReadPosRankSum=0.254;SB=-18.94;TI=NM_006737;GI=KIR3DL2;FC=Missense_P132T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,3:13:58.33:58,0,268:57:28:0.231 chr19 55365343 rs1048271 G A 224.77 LowDP BaseQRankSum=-0.898;DP=10;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=0.8667;MQ=60;MQ0=0;MQRankSum=0.000;QD=22.48;ReadPosRankSum=0.480;SB=-145.06;TI=NM_006737;GI=KIR3DL2;FC=Missense_R166H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,8:10:54.20:255,0,54:60:54:0.800 chr19 55378083 rs58413124 T C 333.25 PASS BaseQRankSum=-1.317;DP=24;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.3333;MQ=48;MQ0=0;MQRankSum=-0.849;QD=13.89;ReadPosRankSum=-0.966;SB=-188.50;TI=NM_006737;GI=KIR3DL2;FC=Missense_L422P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,14:24:99:363,0,238:48:99:0.583 chr19 55396900 rs1865096 A G 3007.16 PASS DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=53;MQ0=0;QD=31.32;SB=-1664.09;TI=NM_133279,NM_133272,NM_133278,NM_002000,NM_133271,NM_133274,NM_133269,NM_133273,NM_133277;GI=FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR;FC=Synonymous_R108R,Synonymous_R96R,Synonymous_R96R,Synonymous_R108R,Synonymous_R108R,Synonymous_R96R,Synonymous_R108R,Synonymous_R96R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,96:96:99:3040,226,0:53:99:1.000 chr19 55399643 rs61735069 T C 3426.40 PASS BaseQRankSum=1.944;DP=281;Dels=0.00;FS=1.501;HRun=2;HaplotypeScore=4.4156;MQ=53;MQ0=0;MQRankSum=1.370;QD=12.19;ReadPosRankSum=-1.160;SB=-1597.31;TI=NM_133279,NM_133272,NM_133278,NM_002000,NM_133271,NM_133274,NM_133269,NM_133273,NM_133277;GI=FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR;FC=Synonymous_L211L,Synonymous_L199L,Silent,Synonymous_L211L,Silent,Silent,Silent,Silent,Synonymous_L102L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:139,141:281:99:3426,0,3446:53:99:0.504 chr19 55399684 rs79401710 C T 1692.37 PASS BaseQRankSum=0.545;DP=167;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5224;MQ=53;MQ0=0;MQRankSum=1.734;QD=10.13;ReadPosRankSum=1.056;SB=-835.55;TI=NM_133279,NM_133272,NM_133278,NM_002000,NM_133271,NM_133274,NM_133269,NM_133273,NM_133277;GI=FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR,FCAR;FC=Synonymous_P224P,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,76:167:99:1722,0,2389:53:99:0.455 chr19 55450696 rs775880 G A 1353.13 PASS BaseQRankSum=-0.129;DP=88;Dels=0.00;FS=1.084;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=3;MQRankSum=-0.253;QD=15.38;ReadPosRankSum=-0.660;SB=-316.83;TI=NM_001127255,NM_206828,NM_139176;GI=NLRP7,NLRP7,NLRP7;FC=Synonymous_I497I,Synonymous_I497I,Synonymous_I497I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,51:88:99:1383,0,1096:54:99:0.580 chr19 55450727 rs775881 C T 756.92 PASS BaseQRankSum=0.711;DP=66;Dels=0.09;FS=3.149;HRun=0;HaplotypeScore=21.1574;MQ=54;MQ0=3;MQRankSum=-0.855;QD=11.47;ReadPosRankSum=-0.919;SB=-212.51;TI=NM_001127255,NM_206828,NM_139176;GI=NLRP7,NLRP7,NLRP7;FC=Missense_G487E,Missense_G487E,Missense_G487E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,30:60:99:787,0,943:54:99:0.500 chr19 55450746 rs61747414 C T 1046.32 PASS BaseQRankSum=-0.580;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4922;MQ=52;MQ0=3;MQRankSum=-0.490;QD=13.95;ReadPosRankSum=-1.177;SB=-346.90;TI=NM_001127255,NM_206828,NM_139176;GI=NLRP7,NLRP7,NLRP7;FC=Missense_A481T,Missense_A481T,Missense_A481T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,39:75:99:1076,0,1145:52:99:0.520 chr19 55481669 rs269913 T C 1919.03 PASS BaseQRankSum=-0.229;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=60;MQ0=0;MQRankSum=0.686;QD=36.21;ReadPosRankSum=0.425;SB=-39.32;TI=NM_001174081,NM_017852,NM_001174083,NM_001174082;GI=NLRP2,NLRP2,NLRP2,NLRP2;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,52:53:99:1952,113,0:60:99:0.981 chr19 55494141 rs62124644 T C 549.33 PASS BaseQRankSum=1.638;DP=46;Dels=0.00;FS=4.722;HRun=1;HaplotypeScore=5.5139;MQ=55;MQ0=2;MQRankSum=2.133;QD=11.94;ReadPosRankSum=1.285;SB=-153.91;TI=NM_001174081,NM_017852,NM_001174083,NM_001174082;GI=NLRP2,NLRP2,NLRP2,NLRP2;FC=Missense_F359L,Missense_F359L,Missense_F336L,Missense_F337L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,22:46:99:579,0,539:55:99:0.478 chr19 55495106 rs7254951 G A 159.88 SB;LowDP BaseQRankSum=-0.054;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=-0.380;QD=9.99;ReadPosRankSum=-0.163;SB=-0.01;TI=NM_001174081,NM_017852,NM_001174083,NM_001174082;GI=NLRP2,NLRP2,NLRP2,NLRP2;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,6:16:99:190,0,343:60:99:0.375 chr19 55497633 . C T 1346.48 PASS BaseQRankSum=-2.013;DP=144;Dels=0.00;FS=12.654;HRun=0;HaplotypeScore=8.4423;MQ=50;MQ0=0;MQRankSum=1.539;QD=9.35;ReadPosRankSum=-0.023;SB=-586.91;TI=NM_001174081,NM_017852,NM_001174083,NM_001174082;GI=NLRP2,NLRP2,NLRP2,NLRP2;FC=Synonymous_P772P,Synonymous_P772P,Synonymous_P749P,Synonymous_P750P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,54:144:99:1376,0,2192:50:99:0.378 chr19 55512137 rs12768 C A 1782.05 PASS DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=30.20;SB=-712.08;TI=NM_001174081,NM_017852,NM_001174083,NM_001174082;GI=NLRP2,NLRP2,NLRP2,NLRP2;FC=Synonymous_I1020I,Synonymous_I1020I,Synonymous_I997I,Synonymous_I998I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1815,132,0:56:99:1.000 chr19 55525497 rs1671150 A G 2150.54 PASS DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=60;MQ0=0;QD=37.73;SB=-81.30;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Missense_F606L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:57:99:2184,166,0:60:99:1.000 chr19 55525596 rs1654412 T C 4495.78 PASS DP=146;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=6.3095;MQ=56;MQ0=0;QD=30.79;SB=-1751.40;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Missense_R573G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,146:146:99:4496,328,0:56:99:1.000 chr19 55525894 rs1671151 G A 4993.44 PASS DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4878;MQ=59;MQ0=0;QD=35.41;SB=-890.50;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Synonymous_P473P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,141:141:99:4993,376,0:59:99:1.000 chr19 55526345 rs1671152 T G 4003.04 PASS BaseQRankSum=-0.615;DP=125;Dels=0.00;FS=3.926;HRun=0;HaplotypeScore=8.9786;MQ=54;MQ0=0;MQRankSum=0.587;QD=32.02;ReadPosRankSum=-0.196;SB=-1832.21;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Missense_K323T,Missense_N322H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,123:125:99:4003,269,0:54:99:0.992 chr19 55526359 rs1654413 A T 3601.16 PASS BaseQRankSum=0.265;DP=113;Dels=0.00;FS=4.273;HRun=0;HaplotypeScore=14.2122;MQ=55;MQ0=0;MQRankSum=0.390;QD=31.87;ReadPosRankSum=-1.295;SB=-1513.80;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Synonymous_A318A,Missense_L317Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,110:113:99:3601,239,0:55:99:0.991 chr19 55526373 rs2304166 G C 1855.15 PASS BaseQRankSum=0.814;DP=126;Dels=0.00;FS=0.709;HRun=0;HaplotypeScore=13.4082;MQ=55;MQ0=0;MQRankSum=2.302;QD=14.72;ReadPosRankSum=-0.680;SB=-715.84;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Missense_P314A,Synonymous_L312L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,66:126:99:1885,0,1515:55:99:0.528 chr19 55527081 rs2304167 C T 3835.31 PASS DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50;MQ0=0;QD=26.82;SB=-2684.10;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Missense_A249T,Missense_A249T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,143:143:99:3835,271,0:50:99:1.000 chr19 55530035 rs1654416 C T 3044.82 PASS DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=28.19;SB=-2025.70;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Missense_E237K,Missense_E237K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:3078,220,0:54:99:1.000 chr19 55536595 rs1613662 G A 1973.38 PASS DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9787;MQ=53;MQ0=0;QD=29.90;SB=-706.50;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Missense_P219S,Missense_P219S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:66:99:2006,153,0:53:99:1.000 chr19 55538980 rs1654425 T C 3090.74 PASS DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3714;MQ=58;MQ0=0;QD=26.42;SB=-1766.19;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Synonymous_S192S,Synonymous_S192S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,117:117:99:3124,223,0:58:99:1.000 chr19 55539061 rs892089 A G 5483.16 PASS DP=216;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.9960;MQ=52;MQ0=0;QD=25.39;SB=-3855.59;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Synonymous_F165F,Synonymous_F165F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,216:216:99:5483,385,0:52:99:1.000 chr19 55539072 rs892090 T G 5787.88 PASS DP=230;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5474;MQ=52;MQ0=0;QD=25.16;SB=-4138.57;TI=NM_001083899,NM_016363;GI=GP6,GP6;FC=Synonymous_R162R,Synonymous_R162R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,230:230:99:5788,406,0:52:99:1.000 chr19 55644325 rs890868 A C 2262.31 PASS DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5845;MQ=54;MQ0=0;QD=28.28;SB=-1474.04;TI=NM_001126132,NM_003283,NM_001126133;GI=TNNT1,TNNT1,TNNT1;FC=Synonymous_R249R,Synonymous_R265R,Synonymous_R238R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2295,166,0:54:99:1.000 chr19 55665584 rs7252610 A C 3429.66 PASS BaseQRankSum=1.705;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3608;MQ=52;MQ0=0;MQRankSum=0.027;QD=26.79;ReadPosRankSum=1.678;SB=-2379.98;TI=NM_000363;GI=TNNI3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,127:128:99:3430,250,0:52:99:0.992 chr19 55671337 rs890872 C T 1399.12 PASS DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=51;MQ0=0;QD=25.44;SB=-900.14;TI=NM_178837;GI=C19orf51;FC=Missense_D412N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1432,105,0:51:99:1.000 chr19 56052337 . A AC 6687.14 PASS DP=185;FS=0.000;HRun=3;HaplotypeScore=161.6859;MQ=59;MQ0=0;QD=36.15;SB=-3227.99;TI=NM_001199824;GI=LOC100130827;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:17,167:185:99:6687,514,0:59:99:0.908 chr19 56052770 rs654439 C T 624.02 PASS BaseQRankSum=1.400;DP=39;Dels=0.00;FS=7.408;HRun=0;HaplotypeScore=1.8499;MQ=58;MQ0=0;MQRankSum=-0.563;QD=16.00;ReadPosRankSum=0.447;SB=-374.85;TI=NM_001199824;GI=LOC100130827;FC=Synonymous_P174P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,24:39:99:654,0,458:58:99:0.615 chr19 56056184 rs491639 A G 2409.75 PASS BaseQRankSum=4.114;DP=193;Dels=0.01;FS=8.641;HRun=0;HaplotypeScore=10.9122;MQ=56;MQ0=0;MQRankSum=1.091;QD=12.49;ReadPosRankSum=-0.446;SB=-1473.88;TI=NM_001199824;GI=LOC100130827;FC=Synonymous_L59L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,100:192:99:2440,0,2332:56:99:0.521 chr19 56693620 rs3745833 C G 798.79 PASS BaseQRankSum=-0.356;DP=81;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8914;MQ=49;MQ0=0;MQRankSum=1.740;QD=9.86;ReadPosRankSum=-0.024;SB=-482.54;TI=NM_001145546,NM_033106;GI=GALP,GALP;FC=Silent,Missense_I72M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,37:81:99:829,0,957:49:99:0.457 chr19 56694505 rs575756 C T 650.88 PASS BaseQRankSum=0.455;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=-0.008;QD=11.42;ReadPosRankSum=0.375;SB=-406.38;TI=NM_001145546,NM_033106;GI=GALP,GALP;FC=Silent,Unknown_73;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,28:57:99:681,0,655:55:99:0.491 chr19 57742472 rs11084490 G C 45.44 LowVariantFreq;SB BaseQRankSum=0.273;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=49;MQ0=0;MQRankSum=-3.991;QD=0.80;ReadPosRankSum=-1.157;SB=-0.01;TI=NM_003160,NM_001015879,NM_001015878;GI=AURKC,AURKC,AURKC;FC=Silent,Missense_Q32H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,6:57:75.43:75,0,1319:49:45:0.105 chr19 57742489 rs58264281 C T 50.22 LowVariantFreq;SB BaseQRankSum=-0.579;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=49;MQ0=0;MQRankSum=-3.979;QD=0.84;ReadPosRankSum=0.209;SB=-0.01;TI=NM_003160,NM_001015879,NM_001015878;GI=AURKC,AURKC,AURKC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,6:60:80.21:80,0,1337:49:50:0.100 chr19 59010593 rs4801274 A G 1895.90 PASS DP=64;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7480;MQ=49;MQ0=0;QD=29.62;SB=-1099.67;TI=NM_012254;GI=SLC27A5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1929,147,0:49:99:1.000 chr20 126310 . ACC A 1823.30 PASS BaseQRankSum=-1.269;DP=104;FS=0.809;HRun=5;HaplotypeScore=58.4243;MQ=54;MQ0=0;MQRankSum=0.802;QD=17.53;ReadPosRankSum=1.490;SB=-731.85;TI=NM_030931;GI=DEFB126;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,44:103:99:1862,0,1841:54:99:0.436 chr20 368905 rs2295490 A G 1376.68 PASS BaseQRankSum=1.062;DP=113;Dels=0.00;FS=6.130;HRun=2;HaplotypeScore=6.6308;MQ=52;MQ0=0;MQRankSum=0.158;QD=12.18;ReadPosRankSum=0.331;SB=-891.27;TI=NM_021158;GI=TRIB3;FC=Missense_Q84R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,60:113:99:1407,0,1423:52:99:0.531 chr20 371972 rs6051637 T C 5302.40 PASS BaseQRankSum=-1.671;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7223;MQ=57;MQ0=0;MQRankSum=-0.277;QD=31.38;ReadPosRankSum=-1.281;SB=-1704.17;TI=NM_021158;GI=TRIB3;FC=Synonymous_Y111Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,168:169:99:5302,354,0:57:99:0.994 chr20 377226 rs6115830 C T 3731.73 PASS BaseQRankSum=1.457;DP=127;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=11.9530;MQ=55;MQ0=0;MQRankSum=-0.330;QD=29.38;ReadPosRankSum=0.797;SB=-1780.63;TI=NM_021158;GI=TRIB3;FC=Synonymous_A323A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,125:127:99:3732,280,0:55:99:0.992 chr20 741847 rs910857 A G 6738.09 PASS DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7552;MQ=55;MQ0=0;QD=30.08;SB=-3586.44;TI=NM_033409;GI=C20orf54;FC=Synonymous_S411S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,224:224:99:6738,494,0:55:99:1.000 chr20 744308 rs3746802 T C 1018.50 PASS BaseQRankSum=2.232;DP=85;Dels=0.00;FS=5.765;HRun=0;HaplotypeScore=3.7563;MQ=58;MQ0=0;MQRankSum=0.880;QD=11.98;ReadPosRankSum=1.243;SB=-489.59;TI=NM_033409;GI=C20orf54;FC=Missense_I303V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,35:85:99:1048,0,1461:58:99:0.417 chr20 744382 rs3746803 G A 1285.49 PASS BaseQRankSum=1.955;DP=131;Dels=0.00;FS=0.689;HRun=0;HaplotypeScore=7.3302;MQ=55;MQ0=0;MQRankSum=0.821;QD=9.81;ReadPosRankSum=0.294;SB=-630.77;TI=NM_033409;GI=C20orf54;FC=Missense_T278M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,52:131:99:1315,0,2218:55:99:0.397 chr20 744415 rs3746804 G A 1218.44 PASS BaseQRankSum=1.358;DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3369;MQ=56;MQ0=0;MQRankSum=0.737;QD=8.40;ReadPosRankSum=-0.035;SB=-727.74;TI=NM_033409;GI=C20orf54;FC=Missense_P267L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,56:145:99:1248,0,2383:56:99:0.386 chr20 744450 rs3746805 G A 2308.32 PASS BaseQRankSum=0.325;DP=159;Dels=0.00;FS=2.055;HRun=1;HaplotypeScore=8.0468;MQ=54;MQ0=0;MQRankSum=1.859;QD=14.52;ReadPosRankSum=1.223;SB=-1520.02;TI=NM_033409;GI=C20orf54;FC=Synonymous_L255L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,93:159:99:2338,0,1509:54:99:0.589 chr20 746098 rs3746808 G A 2231.76 PASS BaseQRankSum=1.583;DP=193;Dels=0.00;FS=0.554;HRun=2;HaplotypeScore=10.7291;MQ=56;MQ0=0;MQRankSum=1.237;QD=11.56;ReadPosRankSum=0.726;SB=-1025.25;TI=NM_033409;GI=C20orf54;FC=Synonymous_A107A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,83:193:99:2262,0,2794:56:99:0.432 chr20 944702 rs41275604 G A 1301.53 PASS BaseQRankSum=1.863;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3153;MQ=56;MQ0=0;MQRankSum=-0.676;QD=11.73;ReadPosRankSum=-1.066;SB=-598.57;TI=NM_001040007,NM_001029871;GI=RSPO4,RSPO4;FC=Silent,Synonymous_C157C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,53:111:99:1332,0,1426:56:99:0.477 chr20 1210647 rs450739 T C 945.39 PASS BaseQRankSum=-1.941;DP=59;Dels=0.00;FS=4.171;HRun=0;HaplotypeScore=2.8935;MQ=55;MQ0=0;MQRankSum=0.065;QD=16.02;ReadPosRankSum=-0.016;SB=-455.72;TI=NM_001136566;GI=RAD21L1;FC=Missense_C90R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,37:59:99:975,0,570:55:99:0.638 chr20 1214814 rs203534 A C 1891.50 PASS BaseQRankSum=0.987;DP=143;Dels=0.00;FS=0.621;HRun=0;HaplotypeScore=7.5748;MQ=56;MQ0=0;MQRankSum=0.834;QD=13.23;ReadPosRankSum=-0.087;SB=-1147.05;TI=NM_001136566;GI=RAD21L1;FC=Missense_I152L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,72:143:99:1921,0,1700:56:99:0.503 chr20 1221038 rs16992733 T C 2112.52 PASS BaseQRankSum=2.534;DP=180;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6770;MQ=54;MQ0=0;MQRankSum=-0.350;QD=11.74;ReadPosRankSum=-0.209;SB=-1478.95;TI=NM_001136566;GI=RAD21L1;FC=Synonymous_T272T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,97:180:99:2143,0,2040:54:99:0.539 chr20 2375262 rs2076405 A G 2346.36 PASS DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8939;MQ=54;MQ0=0;QD=26.66;SB=-1564.88;TI=NM_198994;GI=TGM6;FC=Missense_M58V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2379,169,0:54:99:1.000 chr20 2380323 rs6114033 G A 3104.13 PASS BaseQRankSum=2.019;DP=218;Dels=0.00;FS=1.079;HRun=2;HaplotypeScore=8.1958;MQ=51;MQ0=0;MQRankSum=0.198;QD=14.24;ReadPosRankSum=1.301;SB=-2150.44;TI=NM_198994;GI=TGM6;FC=Synonymous_K263K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,133:218:99:3134,0,1848:51:99:0.610 chr20 2413125 rs2076653 C T 430.90 LowDP DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6016;MQ=55;MQ0=0;QD=28.73;SB=-158.53;TI=NM_198994;GI=TGM6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,14:15:36.11:464,36,0:55:36:1.000 chr20 2413126 rs6036467 C T 427.72 LowDP DP=15;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.6016;MQ=55;MQ0=0;QD=28.51;SB=-146.49;TI=NM_198994;GI=TGM6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,15:15:36.11:461,36,0:55:36:1.000 chr20 2633936 rs2073194 T C 2465.18 PASS DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3205;MQ=52;MQ0=0;QD=29.35;SB=-1377.32;TI=NR_027700,NM_006392;GI=NOP56,NOP56;FC=Silent,Synonymous_S35S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2498,184,0:52:99:1.000 chr20 2637071 rs8958 T C 2711.59 PASS DP=102;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.1764;MQ=53;MQ0=0;QD=26.58;SB=-1687.42;TI=NR_027700,NM_006392;GI=NOP56,NOP56;FC=Silent,Synonymous_T345T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,102:102:99:2745,202,0:53:99:1.000 chr20 2644407 rs2073193 C G 2693.87 PASS DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9178;MQ=56;MQ0=0;QD=28.36;SB=-1440.77;TI=NM_006899,NM_174856,NM_174855;GI=IDH3B,IDH3B,IDH3B;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:95:99:2727,202,0:56:99:1.000 chr20 3209083 rs41281858 G A 642.71 PASS BaseQRankSum=-0.099;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3178;MQ=58;MQ0=0;MQRankSum=-1.543;QD=11.90;ReadPosRankSum=0.677;SB=-250.12;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,22:54:99:673,0,907:58:99:0.415 chr20 3209734 . T C 144.33 LowVariantFreq;SB BaseQRankSum=-6.467;DP=151;Dels=0.00;FS=74.461;HRun=3;HaplotypeScore=72.5843;MQ=46;MQ0=0;MQRankSum=-1.874;QD=0.96;ReadPosRankSum=1.874;SB=-0.01;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,27:151:99:174,0,3212:46:99:0.180 chr20 3210301 rs41281860 G A 1985.83 PASS BaseQRankSum=0.860;DP=153;Dels=0.00;FS=0.606;HRun=0;HaplotypeScore=7.0430;MQ=54;MQ0=0;MQRankSum=1.221;QD=12.98;ReadPosRankSum=0.543;SB=-1361.88;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Synonymous_N553N,Synonymous_N580N,Synonymous_N537N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:66,87:153:99:2016,0,1603:54:99:0.569 chr20 3211235 rs6084312 C T 1576.20 PASS BaseQRankSum=0.126;DP=147;Dels=0.00;FS=2.134;HRun=0;HaplotypeScore=9.4693;MQ=54;MQ0=0;MQRankSum=2.336;QD=10.72;ReadPosRankSum=1.064;SB=-904.41;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Synonymous_T463T,Synonymous_T490T,Synonymous_T447T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,67:147:99:1606,0,2029:54:99:0.456 chr20 3211304 rs41281862 G A 921.51 PASS BaseQRankSum=0.020;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8653;MQ=56;MQ0=0;MQRankSum=0.788;QD=10.13;ReadPosRankSum=0.852;SB=-547.47;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,40:91:99:952,0,1373:56:99:0.440 chr20 3214819 rs3827075 T G 5361.78 PASS BaseQRankSum=0.214;DP=201;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6274;MQ=51;MQ0=0;MQRankSum=-1.167;QD=26.68;ReadPosRankSum=-0.593;SB=-3510.45;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Synonymous_R161R,Synonymous_R188R,Synonymous_R145R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,199:201:99:5362,314,0:51:99:0.990 chr20 3215548 rs3803957 C A 603.54 PASS BaseQRankSum=0.684;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-0.812;QD=16.76;ReadPosRankSum=-0.462;SB=-40.01;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,20:36:99:634,0,528:58:99:0.556 chr20 3218563 rs79057061 T C 1856.34 PASS BaseQRankSum=1.645;DP=205;Dels=0.00;FS=6.968;HRun=2;HaplotypeScore=12.3928;MQ=54;MQ0=0;MQRankSum=0.818;QD=9.06;ReadPosRankSum=-2.076;SB=-1223.40;TI=NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11;FC=Missense_R50G,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,85:205:99:1886,0,2945:54:99:0.415 chr20 3218634 rs3810562 G C 4753.83 PASS DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=28.99;SB=-2518.10;TI=NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11;FC=Missense_P26R,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,164:164:99:4754,340,0:56:99:1.000 chr20 3649632 . ATCTGGACT A 1774.63 PASS BaseQRankSum=2.064;DP=70;FS=5.427;HRun=0;HaplotypeScore=293.9812;MQ=45;MQ0=0;MQRankSum=-6.055;QD=25.35;ReadPosRankSum=0.137;SB=-501.33;TI=NM_153202,NM_025220;GI=ADAM33,ADAM33;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,19:70:99:1814,0,5278:45:99:0.271 chr20 3651742 rs528557 C G 2941.60 PASS BaseQRankSum=0.620;DP=253;Dels=0.00;FS=1.530;HRun=0;HaplotypeScore=10.5268;MQ=54;MQ0=0;MQRankSum=2.256;QD=11.63;ReadPosRankSum=1.078;SB=-1774.33;TI=NM_153202,NM_025220;GI=ADAM33,ADAM33;FC=Synonymous_G691G,Synonymous_G717G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:130,122:253:99:2972,0,3088:54:99:0.484 chr20 3654433 rs2271511 C T 469.08 PASS BaseQRankSum=-1.489;DP=53;Dels=0.00;FS=1.123;HRun=0;HaplotypeScore=2.8805;MQ=54;MQ0=0;MQRankSum=-0.623;QD=8.85;ReadPosRankSum=-0.352;SB=-272.37;TI=NM_153202,NM_025220;GI=ADAM33,ADAM33;FC=Synonymous_G288G,Synonymous_G288G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,22:53:99:499,0,867:54:99:0.415 chr20 3655219 rs3918392 T C 1526.88 PASS BaseQRankSum=1.917;DP=133;Dels=0.00;FS=0.640;HRun=0;HaplotypeScore=5.4363;MQ=56;MQ0=0;MQRankSum=1.849;QD=11.48;ReadPosRankSum=2.425;SB=-925.61;TI=NM_153202,NM_025220;GI=ADAM33,ADAM33;FC=Missense_T178A,Missense_T178A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,58:133:99:1557,0,1861:56:99:0.436 chr20 3838441 rs17857295 C G 379.74 PASS BaseQRankSum=-2.148;DP=51;Dels=0.00;FS=3.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=0.170;QD=7.45;ReadPosRankSum=-0.450;SB=-95.37;TI=NM_020746;GI=MAVS;FC=Missense_Q93E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,17:51:99:410,0,923:54:99:0.333 chr20 3844929 rs45437096 C T 818.23 PASS BaseQRankSum=1.464;DP=60;Dels=0.00;FS=5.738;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=-0.044;QD=13.64;ReadPosRankSum=-0.133;SB=-225.58;TI=NM_020746;GI=MAVS;FC=Missense_R218C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,31:60:99:848,0,766:57:99:0.517 chr20 3870124 rs3737084 G C 747.03 PASS DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=37.35;SB=-98.98;TI=NM_024960,NM_153638;GI=PANK2,PANK2;FC=Silent,Missense_G126A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,20:20:60.19:780,60,0:60:60:1.000 chr20 4680251 rs1799990 A G 279.60 PASS BaseQRankSum=0.171;DP=28;Dels=0.00;FS=1.507;HRun=0;HaplotypeScore=2.5929;MQ=54;MQ0=0;MQRankSum=1.195;QD=9.99;ReadPosRankSum=-1.098;SB=-173.48;TI=NM_001080122,NM_001080121,NM_183079,NM_000311,NM_001080123;GI=PRNP,PRNP,PRNP,PRNP,PRNP;FC=Missense_M129V,Missense_M129V,Missense_M129V,Missense_M129V,Missense_M129V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,12:28:99:310,0,363:54:99:0.444 chr20 5283256 rs3746682 C G 2764.17 PASS DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=27.37;SB=-1894.04;TI=NM_144773;GI=PROKR2;FC=Synonymous_T195T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:2797,202,0:55:99:1.000 chr20 5283316 rs3746683 G C 521.04 PASS BaseQRankSum=-0.478;DP=53;Dels=0.00;FS=10.822;HRun=0;HaplotypeScore=4.8932;MQ=56;MQ0=0;MQRankSum=0.190;QD=9.83;ReadPosRankSum=0.424;SB=-139.39;TI=NM_144773;GI=PROKR2;FC=Synonymous_A175A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,22:53:99:551,0,768:56:99:0.415 chr20 5903517 rs236151 A G 247.96 LowDP BaseQRankSum=0.000;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=0.000;QD=20.66;ReadPosRankSum=0.000;SB=-63.00;TI=NM_001819;GI=CHGB;FC=Missense_T243A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,8:12:92.94:278,0,93:58:93:0.667 chr20 6064710 rs753927 A G 988.58 PASS BaseQRankSum=1.471;DP=83;Dels=0.00;FS=2.996;HRun=0;HaplotypeScore=2.6274;MQ=53;MQ0=0;MQRankSum=0.988;QD=11.91;ReadPosRankSum=0.296;SB=-653.03;TI=NM_017671;GI=FERMT1;FC=Synonymous_F565F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,41:83:99:1019,0,1020:53:99:0.494 chr20 6064731 rs2232079 C T 1330.17 PASS BaseQRankSum=1.940;DP=102;Dels=0.00;FS=6.369;HRun=0;HaplotypeScore=3.5489;MQ=53;MQ0=0;MQRankSum=0.575;QD=13.04;ReadPosRankSum=-0.367;SB=-948.05;TI=NM_017671;GI=FERMT1;FC=Synonymous_A558A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,56:102:99:1360,0,1139:53:99:0.549 chr20 6065729 rs2232074 C T 724.63 PASS BaseQRankSum=-0.613;DP=49;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=1.8773;MQ=59;MQ0=0;MQRankSum=-0.613;QD=14.79;ReadPosRankSum=0.312;SB=-293.17;TI=NM_017671;GI=FERMT1;FC=Missense_R526K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,27:49:99:755,0,645:59:99:0.551 chr20 6065731 rs2232073 T C 780.39 PASS BaseQRankSum=-0.713;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8769;MQ=59;MQ0=0;MQRankSum=-1.987;QD=15.30;ReadPosRankSum=0.010;SB=-281.12;TI=NM_017671;GI=FERMT1;FC=Synonymous_K525K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,29:51:99:810,0,646:59:99:0.569 chr20 6088265 rs62200482 G A 2236.50 PASS BaseQRankSum=-0.022;DP=170;Dels=0.00;FS=4.697;HRun=0;HaplotypeScore=2.7502;MQ=52;MQ0=0;MQRankSum=0.264;QD=13.16;ReadPosRankSum=1.961;SB=-1069.29;TI=NM_017671;GI=FERMT1;FC=Missense_R255C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,95:170:99:2266,0,1752:52:99:0.559 chr20 6093177 rs16991866 A G 1252.73 PASS BaseQRankSum=1.428;DP=113;Dels=0.00;FS=5.095;HRun=0;HaplotypeScore=5.6679;MQ=54;MQ0=0;MQRankSum=1.075;QD=11.09;ReadPosRankSum=-2.765;SB=-359.73;TI=NM_017671;GI=FERMT1;FC=Missense_I160T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,44:113:99:1283,0,1685:54:99:0.389 chr20 6096632 rs1056141 G A 999.48 PASS BaseQRankSum=0.725;DP=71;Dels=0.00;FS=0.994;HRun=2;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=-0.006;QD=14.08;ReadPosRankSum=-1.049;SB=-346.00;TI=NM_017671;GI=FERMT1;FC=Synonymous_L71L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,40:71:99:1029,0,807:55:99:0.563 chr20 6096695 rs2295435 C T 260.19 SB BaseQRankSum=1.186;DP=26;Dels=0.00;FS=2.764;HRun=0;HaplotypeScore=5.7668;MQ=59;MQ0=0;MQRankSum=0.808;QD=10.01;ReadPosRankSum=-0.377;SB=-0.01;TI=NM_017671;GI=FERMT1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,9:26:99:290,0,521:59:99:0.346 chr20 6100088 rs10373 A G 2999.82 PASS DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=26.78;SB=-1981.57;TI=NM_017671;GI=FERMT1;FC=Synonymous_H38H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,112:112:99:3033,214,0:52:99:1.000 chr20 6751034 rs1049007 A G 6336.05 PASS BaseQRankSum=1.579;DP=229;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=26.0588;MQ=53;MQ0=0;MQRankSum=1.564;QD=27.67;ReadPosRankSum=-0.725;SB=-3530.60;TI=NM_001200;GI=BMP2;FC=Synonymous_S87S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,226:229:99:6336,435,0:53:99:0.996 chr20 6759115 rs235768 A T 4081.22 PASS DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=56;MQ0=0;QD=29.79;SB=-2624.31;TI=NM_001200;GI=BMP2;FC=Missense_R190S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,135:137:99:4081,301,0:56:99:1.000 chr20 8113405 rs6086350 T C 773.07 PASS BaseQRankSum=1.281;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=51;MQ0=0;MQRankSum=-1.753;QD=11.89;ReadPosRankSum=-1.661;SB=-536.21;TI=NM_182734,NM_015192;GI=PLCB1,PLCB1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,34:65:99:803,0,735:51:99:0.523 chr20 8737734 rs2076413 G A 1137.75 PASS BaseQRankSum=1.257;DP=79;Dels=0.00;FS=1.881;HRun=1;HaplotypeScore=0.9998;MQ=52;MQ0=0;MQRankSum=-0.502;QD=14.40;ReadPosRankSum=-0.442;SB=-650.72;TI=NM_182734,NM_015192;GI=PLCB1,PLCB1;FC=Synonymous_A855A,Synonymous_A855A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,46:79:99:1168,0,839:52:99:0.582 chr20 8755243 rs2235613 T C 5807.41 PASS DP=209;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8600;MQ=52;MQ0=0;QD=27.79;SB=-3955.14;TI=NM_182734,NM_015192;GI=PLCB1,PLCB1;FC=Synonymous_A996A,Synonymous_A996A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,208:209:99:5807,418,0:52:99:1.000 chr20 8769180 rs2327089 C T 2635.66 PASS DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=54;MQ0=0;QD=31.01;SB=-1203.30;TI=NM_182734,NM_015192;GI=PLCB1,PLCB1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2669,196,0:54:99:1.000 chr20 8770822 rs2294597 C T 593.42 PASS BaseQRankSum=1.115;DP=58;Dels=0.00;FS=1.045;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=0.989;QD=10.23;ReadPosRankSum=-0.973;SB=-370.31;TI=NM_182734,NM_015192;GI=PLCB1,PLCB1;FC=Synonymous_L1113L,Synonymous_L1113L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,25:58:99:623,0,888:54:99:0.431 chr20 9391743 rs56772399 A G 816.75 PASS BaseQRankSum=-0.224;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=57;MQ0=0;MQRankSum=0.637;QD=15.41;ReadPosRankSum=-0.135;SB=-314.46;TI=NM_001172646,NM_182797,NM_000933;GI=PLCB4,PLCB4,PLCB4;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,30:53:99:847,0,641:57:99:0.566 chr20 9543622 rs2297345 C T 1085.53 PASS BaseQRankSum=0.530;DP=98;Dels=0.00;FS=0.755;HRun=1;HaplotypeScore=2.9820;MQ=54;MQ0=0;MQRankSum=0.053;QD=11.08;ReadPosRankSum=0.160;SB=-697.14;TI=NM_020341,NM_177990;GI=PAK7,PAK7;FC=Missense_S511N,Missense_S511N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,46:98:99:1116,0,1217:54:99:0.469 chr20 9543681 rs2297346 C T 571.76 PASS BaseQRankSum=1.481;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8929;MQ=59;MQ0=0;MQRankSum=-0.500;QD=11.21;ReadPosRankSum=0.160;SB=-413.68;TI=NM_020341,NM_177990;GI=PAK7,PAK7;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,27:51:99:602,0,540:59:99:0.529 chr20 10620386 rs1051419 A G 8163.99 PASS DP=290;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5757;MQ=55;MQ0=0;QD=28.15;SB=-5616.47;TI=NM_000214;GI=JAG1;FC=Synonymous_Y1139Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,290:290:99:8164,584,0:55:99:1.000 chr20 10633237 rs1131695 G A 750.22 PASS BaseQRankSum=-1.136;DP=65;Dels=0.00;FS=2.059;HRun=0;HaplotypeScore=2.7565;MQ=56;MQ0=0;MQRankSum=2.161;QD=11.54;ReadPosRankSum=-1.346;SB=-479.15;TI=NM_000214;GI=JAG1;FC=Synonymous_Y255Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,34:65:99:780,0,665:56:99:0.523 chr20 13765942 . CCCGCGGGG C 3797.76 PASS BaseQRankSum=-0.415;DP=113;FS=0.734;HRun=0;HaplotypeScore=111.6876;MQ=51;MQ0=0;MQRankSum=-5.484;QD=33.61;ReadPosRankSum=-1.754;SB=-1399.19;TI=NM_024120,NR_029377,NM_001039375;GI=C20orf7,C20orf7,C20orf7;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,46:113:99:3798,0,5603:51:99:0.414 chr20 15967390 rs41275442 C T 4216.96 PASS BaseQRankSum=-0.767;DP=158;Dels=0.00;FS=3.155;HRun=0;HaplotypeScore=3.7878;MQ=56;MQ0=0;MQRankSum=0.965;QD=26.69;ReadPosRankSum=-0.153;SB=-2864.12;TI=NM_080676,NM_001033087;GI=MACROD2,MACROD2;FC=Missense_T335M,Missense_T100M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,157:158:99:4217,266,0:56:99:0.994 chr20 16729138 rs6135876 T C 746.11 PASS BaseQRankSum=-0.139;DP=70;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3796;MQ=55;MQ0=0;MQRankSum=0.682;QD=10.66;ReadPosRankSum=-0.633;SB=-380.79;TI=NM_020157;GI=OTOR;FC=Missense_L31P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,31:70:99:776,0,964:55:99:0.449 chr20 17474968 rs6080718 T C 1398.33 PASS DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8808;MQ=56;MQ0=0;QD=31.07;SB=-763.00;TI=NM_001195,NM_001161705;GI=BFSP1,BFSP1;FC=Synonymous_P583P,Synonymous_P458P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,45:45:99:1431,108,0:56:99:1.000 chr20 17475217 rs6136118 C T 639.32 PASS DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.44;SB=-308.04;TI=NM_001195,NM_001161705;GI=BFSP1,BFSP1;FC=Synonymous_A500A,Synonymous_A375A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,21:21:51.16:672,51,0:57:51:1.000 chr20 17477592 rs6080719 C T 1908.67 PASS BaseQRankSum=-0.325;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=54;MQ0=0;MQRankSum=0.487;QD=29.82;ReadPosRankSum=1.353;SB=-1122.74;TI=NM_001195,NM_001161705;GI=BFSP1,BFSP1;FC=Missense_G345S,Missense_G220S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,63:64:99:1942,110,0:54:99:0.984 chr20 18511456 rs6081189 A G 2225.54 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=36.2327;MQ=53;MQ0=0;QD=27.48;SB=-1292.09;TI=NM_006363,NM_032986,NM_032985,NM_001172746,NM_001172745;GI=SEC23B,SEC23B,SEC23B,SEC23B,SEC23B;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:81:99:2259,172,0:53:99:1.000 chr20 18511458 . C CT 100.84 R8 BaseQRankSum=-2.165;DP=77;FS=0.000;HRun=14;HaplotypeScore=437.3648;MQ=53;MQ0=0;MQRankSum=3.155;QD=1.31;ReadPosRankSum=0.923;SB=-77.59;TI=NM_006363,NM_032986,NM_032985,NM_001172746,NM_001172745;GI=SEC23B,SEC23B,SEC23B,SEC23B,SEC23B;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,14:77:99:138,0,865:53:99:0.230 chr20 19915770 rs78648341 G A 960.97 PASS BaseQRankSum=2.428;DP=87;Dels=0.00;FS=1.764;HRun=0;HaplotypeScore=4.7253;MQ=53;MQ0=0;MQRankSum=2.122;QD=11.05;ReadPosRankSum=-0.710;SB=-621.57;TI=NM_018993;GI=RIN2;FC=Missense_G29R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,41:87:99:991,0,1036:53:99:0.471 chr20 19951534 rs3803981 T A 1337.81 PASS BaseQRankSum=1.308;DP=161;Dels=0.00;FS=1.307;HRun=0;HaplotypeScore=6.6691;MQ=52;MQ0=0;MQRankSum=-0.185;QD=8.31;ReadPosRankSum=-0.691;SB=-843.30;TI=NM_018993;GI=RIN2;FC=Missense_S197T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:98,63:161:99:1368,0,2513:52:99:0.391 chr20 22562674 rs1212275 T C 1577.56 PASS DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0979;MQ=51;MQ0=0;QD=25.86;SB=-1032.85;TI=NM_021784,NM_153675;GI=FOXA2,FOXA2;FC=Synonymous_Q402Q,Synonymous_Q396Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1611,117,0:51:99:1.000 chr20 23618395 rs6138024 T C 1167.83 PASS DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=54;MQ0=0;QD=28.48;SB=-702.96;TI=NM_000099;GI=CST3;FC=Synonymous_L35L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:90.28:1201,90,0:54:90:1.000 chr20 23618427 rs1064039 C T 453.67 PASS BaseQRankSum=-0.647;DP=35;Dels=0.00;FS=3.325;HRun=0;HaplotypeScore=7.9430;MQ=56;MQ0=0;MQRankSum=-0.332;QD=12.96;ReadPosRankSum=1.907;SB=-161.59;TI=NM_000099;GI=CST3;FC=Missense_A25T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,20:35:99:484,0,311:56:99:0.588 chr20 23618488 rs1055084 G A 312.83 PASS BaseQRankSum=0.273;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9287;MQ=53;MQ0=0;MQRankSum=0.346;QD=9.20;ReadPosRankSum=0.637;SB=-133.60;TI=NM_000099;GI=CST3;FC=Synonymous_P4P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:19,14:34:99:343,0,534:53:99:0.424 chr20 25052119 rs11087497 C CT 1169.73 R8 BaseQRankSum=-0.574;DP=229;FS=1.691;HRun=12;HaplotypeScore=753.0227;MQ=52;MQ0=0;MQRankSum=1.363;QD=5.11;ReadPosRankSum=-0.829;SB=-351.75 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,68:229:99:1209,0,2559:52:99:0.356 chr20 25059442 rs6138482 C T 1064.44 PASS BaseQRankSum=0.587;DP=118;Dels=0.00;FS=4.563;HRun=0;HaplotypeScore=5.3645;MQ=52;MQ0=0;MQRankSum=1.949;QD=9.02;ReadPosRankSum=-0.503;SB=-742.30;TI=NM_014588,NM_199425;GI=VSX1,VSX1;FC=Silent,Missense_R217H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,47:118:99:1094,0,1698:52:99:0.402 chr20 25282944 rs10966 A G 5185.44 PASS DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.65;SB=-3234.68;TI=NM_015600,NM_001042472;GI=ABHD12,ABHD12;FC=Synonymous_D356D,Synonymous_D356D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,181:181:99:5185,373,0:55:99:1.000 chr20 30232673 rs11907253 G A 802.86 PASS BaseQRankSum=1.441;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=0.283;QD=12.74;ReadPosRankSum=-0.103;SB=-462.29;TI=NM_032609;GI=COX4I2;FC=Missense_R161H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,34:63:99:833,0,634:55:99:0.540 chr20 30409452 rs6058469 T C 544.42 PASS BaseQRankSum=0.233;DP=66;Dels=0.00;FS=7.360;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;MQRankSum=-2.513;QD=8.25;ReadPosRankSum=0.073;SB=-161.66;TI=NM_033118;GI=MYLK2;FC=Synonymous_I228I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,24:66:99:574,0,1071:58:99:0.364 chr20 31022959 rs6058694 T C 9575.20 PASS DP=336;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=17.3349;MQ=54;MQ0=0;QD=28.50;SB=-6168.60;TI=NM_015338;GI=ASXL1;FC=Missense_L815P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,335:336:99:9575,692,0:54:99:1.000 chr20 31386347 rs6058891 T C 2486.30 PASS BaseQRankSum=0.817;DP=219;Dels=0.00;FS=1.662;HRun=0;HaplotypeScore=5.3670;MQ=53;MQ0=0;MQRankSum=4.368;QD=11.35;ReadPosRankSum=0.717;SB=-1552.86;TI=NM_175849,NM_006892,NM_175848,NM_175850;GI=DNMT3B,DNMT3B,DNMT3B,DNMT3B;FC=Synonymous_C504C,Synonymous_C524C,Synonymous_C504C,Synonymous_C516C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,103:219:99:2516,0,2697:53:99:0.470 chr20 31386449 rs2424922 T C 1264.03 PASS BaseQRankSum=-0.297;DP=96;Dels=0.00;FS=8.476;HRun=0;HaplotypeScore=18.6244;MQ=55;MQ0=0;MQRankSum=2.776;QD=13.17;ReadPosRankSum=0.297;SB=-216.40;TI=NM_175849,NM_006892,NM_175848,NM_175850;GI=DNMT3B,DNMT3B,DNMT3B,DNMT3B;FC=Synonymous_Y538Y,Synonymous_Y558Y,Synonymous_Y538Y,Synonymous_Y550Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,46:96:99:1294,0,1224:55:99:0.479 chr20 31387954 rs1997797 C G 1007.05 PASS BaseQRankSum=0.072;DP=59;Dels=0.00;FS=1.154;HRun=0;HaplotypeScore=1.8930;MQ=57;MQ0=0;MQRankSum=-0.665;QD=17.07;ReadPosRankSum=-0.841;SB=-325.55;TI=NM_175849,NM_006892,NM_175848,NM_175850;GI=DNMT3B,DNMT3B,DNMT3B,DNMT3B;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,39:59:99:1037,0,494:57:99:0.661 chr20 31388636 rs2424928 T C 1952.77 PASS BaseQRankSum=2.834;DP=147;Dels=0.00;FS=2.132;HRun=0;HaplotypeScore=2.9939;MQ=54;MQ0=0;MQRankSum=-1.776;QD=13.28;ReadPosRankSum=-2.237;SB=-1064.47;TI=NM_175849,NM_006892,NM_175848,NM_175850;GI=DNMT3B,DNMT3B,DNMT3B,DNMT3B;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,83:147:99:1983,0,1353:54:99:0.565 chr20 33523448 . G A 1269.45 PASS BaseQRankSum=0.812;DP=137;Dels=0.00;FS=2.209;HRun=0;HaplotypeScore=4.4648;MQ=51;MQ0=0;MQRankSum=0.948;QD=9.27;ReadPosRankSum=-1.171;SB=-820.90;TI=NM_000178;GI=GSS;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,56:137:99:1299,0,1819:51:99:0.409 chr20 33578202 . G A 932.88 PASS BaseQRankSum=2.829;DP=103;Dels=0.00;FS=2.674;HRun=0;HaplotypeScore=0.8667;MQ=55;MQ0=0;MQRankSum=1.120;QD=9.06;ReadPosRankSum=2.377;SB=-627.62;TI=NM_020884,NR_030223;GI=MYH7B,MIR499;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,45:103:99:963,0,1383:55:99:0.437 chr20 35865054 rs4608 C T 4520.45 PASS DP=164;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2206;MQ=52;MQ0=0;QD=27.56;SB=-2724.06;TI=NM_002951,NM_001135771;GI=RPN2,RPN2;FC=Synonymous_L609L,Synonymous_L577L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,164:164:99:4520,325,0:52:99:1.000 chr20 36030939 rs1885257 G C 1175.54 PASS DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=54;MQ0=0;QD=27.99;SB=-784.76;TI=NM_005417,NM_198291;GI=SRC,SRC;FC=Synonymous_A406A,Synonymous_A406A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:87.28:1209,87,0:54:87:1.000 chr20 36758778 rs2076377 G C 299.45 PASS BaseQRankSum=-0.195;DP=46;Dels=0.00;FS=5.250;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;MQRankSum=-0.415;QD=6.51;ReadPosRankSum=0.000;SB=-182.70;TI=NM_004613;GI=TGM2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,13:46:99:329,0,988:58:99:0.283 chr20 36769792 rs2076389 G A 1236.13 PASS BaseQRankSum=-0.696;DP=97;Dels=0.00;FS=4.049;HRun=1;HaplotypeScore=6.2633;MQ=56;MQ0=0;MQRankSum=1.353;QD=12.74;ReadPosRankSum=-0.595;SB=-498.30;TI=NM_004613,NM_198951;GI=TGM2,TGM2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,48:97:99:1266,0,1252:56:99:0.495 chr20 36770588 rs2076390 C T 1397.48 PASS BaseQRankSum=1.614;DP=75;Dels=0.00;FS=1.039;HRun=0;HaplotypeScore=3.6546;MQ=56;MQ0=0;MQRankSum=-0.971;QD=18.63;ReadPosRankSum=-0.362;SB=-541.76;TI=NM_004613,NM_198951;GI=TGM2,TGM2;FC=Synonymous_L291L,Synonymous_L291L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,52:75:99:1427,0,558:56:99:0.693 chr20 36932660 rs1341023 C T 1831.56 PASS BaseQRankSum=3.683;DP=164;Dels=0.00;FS=0.592;HRun=0;HaplotypeScore=5.4427;MQ=55;MQ0=0;MQRankSum=2.076;QD=11.17;ReadPosRankSum=2.311;SB=-1080.82;TI=NM_001725;GI=BPI;FC=Missense_A16V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:92,72:164:99:1862,0,2197:55:99:0.439 chr20 36932676 rs1341024 G C 2254.76 PASS BaseQRankSum=2.236;DP=190;Dels=0.00;FS=2.556;HRun=0;HaplotypeScore=11.7476;MQ=55;MQ0=0;MQRankSum=0.254;QD=11.87;ReadPosRankSum=0.597;SB=-1408.06;TI=NM_001725;GI=BPI;FC=Synonymous_L21L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,92:190:99:2285,0,2304:55:99:0.487 chr20 36989381 rs2232596 G A 3775.79 PASS DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=26.97;SB=-2717.86;TI=NM_004139;GI=LBP;FC=Synonymous_S204S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,140:140:99:3776,265,0:54:99:1.000 chr20 36997632 rs1780627 T C 3962.91 PASS DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=53;MQ0=0;QD=28.93;SB=-2610.09;TI=NM_004139;GI=LBP;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,137:137:99:3963,286,0:53:99:1.000 chr20 40743829 rs2076248 A G 1482.72 PASS BaseQRankSum=0.660;DP=117;Dels=0.00;FS=0.695;HRun=1;HaplotypeScore=0.9998;MQ=57;MQ0=0;MQRankSum=2.105;QD=12.67;ReadPosRankSum=0.183;SB=-958.70;TI=NM_007050,NM_133170;GI=PTPRT,PTPRT;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,64:117:99:1513,0,1245:57:99:0.547 chr20 41818289 rs2867655 C G 293.42 LowGQ;LowDP DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=29.34;SB=-120.58;TI=NM_007050,NM_133170;GI=PTPRT,PTPRT;FC=Missense_A29P,Missense_A29P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,10:10:24.08:326,24,0:56:24:1.000 chr20 42328639 rs285162 T C 2889.48 PASS DP=103;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.2548;MQ=54;MQ0=0;QD=28.05;SB=-1389.92;TI=NM_002466;GI=MYBL2;FC=Synonymous_P302P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,103:103:99:2922,211,0:54:99:1.000 chr20 42815190 rs1883790 G A 2365.67 PASS BaseQRankSum=-0.713;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49;MQ0=0;MQRankSum=0.245;QD=11.05;ReadPosRankSum=-0.545;SB=-1722.30;TI=NM_020433,NM_175913;GI=JPH2,JPH2;FC=Synonymous_Y52Y,Synonymous_Y52Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,107:214:99:2396,0,2431:49:99:0.500 chr20 43252915 rs244076 T C 1804.89 PASS BaseQRankSum=0.333;DP=160;Dels=0.00;FS=0.581;HRun=1;HaplotypeScore=8.9914;MQ=48;MQ0=0;MQRankSum=-1.726;QD=11.28;ReadPosRankSum=-0.585;SB=-1188.14;TI=NM_000022;GI=ADA;FC=Synonymous_V178V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,78:160:99:1835,0,1912:48:99:0.488 chr20 43264927 rs394105 C T 4235.33 PASS DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9548;MQ=51;MQ0=0;QD=27.32;SB=-2849.52;TI=NM_000022;GI=ADA;FC=Synonymous_V12V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4235,304,0:51:99:1.000 chr20 43629135 rs17420378 G A 1538.11 PASS BaseQRankSum=0.251;DP=122;Dels=0.00;FS=3.326;HRun=2;HaplotypeScore=4.6053;MQ=56;MQ0=0;MQRankSum=1.734;QD=12.61;ReadPosRankSum=2.124;SB=-1068.11;TI=NM_006282;GI=STK4;FC=Missense_V312M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,65:122:99:1568,0,1460:56:99:0.533 chr20 43803613 rs17333103 C T 999.62 PASS BaseQRankSum=0.174;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6443;MQ=53;MQ0=0;MQRankSum=0.477;QD=8.77;ReadPosRankSum=0.585;SB=-717.64;TI=NM_002638;GI=PI3;FC=Missense_T17M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,50:114:99:1030,0,1490:53:99:0.439 chr20 43804522 rs2664581 A C 2129.28 PASS BaseQRankSum=2.440;DP=193;Dels=0.00;FS=6.429;HRun=1;HaplotypeScore=11.7786;MQ=55;MQ0=0;MQRankSum=2.517;QD=11.03;ReadPosRankSum=-1.407;SB=-900.69;TI=NM_002638;GI=PI3;FC=Missense_T34P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,90:193:99:2159,0,2480:55:99:0.466 chr20 43836173 rs2301366 T A 2025.11 PASS BaseQRankSum=2.975;DP=149;Dels=0.00;FS=1.277;HRun=0;HaplotypeScore=5.5461;MQ=55;MQ0=0;MQRankSum=2.174;QD=13.59;ReadPosRankSum=-0.796;SB=-1259.07;TI=NM_003007;GI=SEMG1;FC=Missense_S79T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,76:149:99:2055,0,1828:55:99:0.510 chr20 44520237 rs11467527 CCTG C 678.22 PASS BaseQRankSum=1.078;DP=27;FS=0.000;HRun=0;HaplotypeScore=25.3776;MQ=54;MQ0=0;MQRankSum=0.162;QD=25.12;ReadPosRankSum=-0.162;SB=-146.89;TI=NM_000308,NM_001167594,NM_001127695;GI=CTSA,CTSA,CTSA;FC=1AA_Deletion,1AA_Deletion,1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,15:27:99:717,0,387:54:99:0.556 chr20 44523547 rs2075961 G A 2817.89 PASS BaseQRankSum=0.741;DP=193;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.9983;MQ=55;MQ0=0;MQRankSum=-1.042;QD=14.60;ReadPosRankSum=-0.902;SB=-1711.20;TI=NM_000308,NM_001167594,NM_001127695;GI=CTSA,CTSA,CTSA;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:83,110:193:99:2848,0,1964:55:99:0.570 chr20 44523782 rs4608591 C T 731.61 PASS BaseQRankSum=0.616;DP=66;Dels=0.00;FS=4.981;HRun=0;HaplotypeScore=7.0704;MQ=55;MQ0=0;MQRankSum=1.039;QD=11.09;ReadPosRankSum=0.090;SB=-461.95;TI=NM_000308,NM_001167594,NM_001127695;GI=CTSA,CTSA,CTSA;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,33:66:99:762,0,807:55:99:0.500 chr20 44587830 rs6130977 C A 168.43 LowDP BaseQRankSum=0.788;DP=16;Dels=0.00;FS=9.249;HRun=0;HaplotypeScore=0.9933;MQ=55;MQ0=0;MQRankSum=-0.893;QD=10.53;ReadPosRankSum=0.683;SB=-91.21;TI=NM_022095;GI=ZNF335;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,8:16:99:198,0,218:55:99:0.500 chr20 44590732 rs16990964 G A 157.75 LowDP BaseQRankSum=1.134;DP=12;Dels=0.00;FS=2.398;HRun=0;HaplotypeScore=0.9916;MQ=48;MQ0=0;MQRankSum=-0.536;QD=13.15;ReadPosRankSum=-0.929;SB=-67.99;TI=NM_022095;GI=ZNF335;FC=Synonymous_H541H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,8:12:68.43:188,0,68:48:68:0.667 chr20 44596207 rs6032606 C G 4025.48 PASS DP=131;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.3097;MQ=54;MQ0=0;QD=30.73;SB=-1830.35;TI=NM_022095;GI=ZNF335;FC=Missense_S294T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:4025,295,0:54:99:1.000 chr20 44599839 rs6017715 G C 681.63 PASS DP=20;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=34.08;SB=-187.24;TI=NM_022095;GI=ZNF335;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,20:20:54.17:715,54,0:57:54:1.000 chr20 44639692 rs2274755 G T 1055.51 PASS BaseQRankSum=-0.199;DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5482;MQ=56;MQ0=0;MQRankSum=0.261;QD=12.42;ReadPosRankSum=0.897;SB=-533.09;TI=NM_004994;GI=MMP9;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,38:85:99:1086,0,1271:56:99:0.447 chr20 44640225 rs17576 A G 3680.80 PASS DP=136;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.3052;MQ=51;MQ0=0;QD=27.06;SB=-1990.11;TI=NM_004994;GI=MMP9;FC=Missense_Q279R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,135:136:99:3681,268,0:51:99:1.000 chr20 44641983 . A C 48.40 LowVariantFreq;SB BaseQRankSum=0.178;DP=26;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=16.6291;MQ=44;MQ0=0;MQRankSum=0.036;QD=1.86;ReadPosRankSum=-0.249;SB=-0.01;TI=NM_004994;GI=MMP9;FC=Missense_T474P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,4:26:78.40:78,0,511:44:48:0.154 chr20 44641990 . A C 15.32 LowVariantFreq;SB BaseQRankSum=-2.444;DP=31;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=23.0191;MQ=45;MQ0=0;MQRankSum=-2.497;QD=0.49;ReadPosRankSum=1.208;SB=-0.01;TI=NM_004994;GI=MMP9;FC=Missense_H476P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,5:31:45.18:45,0,706:45:15:0.161 chr20 44642406 rs2250889 G C 1640.23 PASS BaseQRankSum=1.497;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7396;MQ=52;MQ0=0;MQRankSum=0.558;QD=27.80;ReadPosRankSum=-0.147;SB=-966.94;TI=NM_004994;GI=MMP9;FC=Missense_R574P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,58:59:99:1673,123,0:52:99:0.983 chr20 44643111 rs17577 G A 1336.65 PASS BaseQRankSum=-2.086;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.1971;MQ=55;MQ0=0;MQRankSum=0.677;QD=14.53;ReadPosRankSum=-1.234;SB=-630.54;TI=NM_004994;GI=MMP9;FC=Missense_R668Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,55:92:99:1367,0,861:55:99:0.598 chr20 44644965 rs13925 G A 1170.58 PASS BaseQRankSum=-0.318;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;MQRankSum=1.325;QD=12.45;ReadPosRankSum=0.409;SB=-675.24;TI=NM_004994;GI=MMP9;FC=Synonymous_V694V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,49:94:99:1201,0,1084:53:99:0.521 chr20 44746982 rs1883832 T C 1774.08 PASS DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6717;MQ=55;MQ0=0;QD=31.68;SB=-946.65;TI=NM_152854,NM_001250;GI=CD40,CD40;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,56:56:99:1807,135,0:55:99:1.000 chr20 46267950 rs4810648 C T 3122.12 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9863;MQ=57;MQ0=0;QD=34.31;SB=-1047.26;TI=NM_001174087,NM_181659,NM_001174088,NM_006534;GI=NCOA3,NCOA3,NCOA3,NCOA3;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:3155,232,0:57:99:1.000 chr20 46279814 . TGCAGCAGCA T 7103.33 PASS BaseQRankSum=-0.379;DP=98;FS=2.077;HRun=0;HaplotypeScore=81.8821;MQ=52;MQ0=0;MQRankSum=-0.865;QD=72.48;ReadPosRankSum=-0.180;SB=-2207.64;TI=NM_001174087,NM_181659,NM_001174088,NM_006534;GI=NCOA3,NCOA3,NCOA3,NCOA3;FC=3AA_Deletion,3AA_Deletion,3AA_Deletion,3AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,80:98:99:7103,0,228:52:99:0.816 chr20 47626847 rs2295580 T C 1222.18 PASS BaseQRankSum=1.112;DP=138;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8935;MQ=53;MQ0=0;MQRankSum=3.712;QD=8.86;ReadPosRankSum=1.210;SB=-883.95;TI=NM_006420;GI=ARFGEF2;FC=Synonymous_G1221G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:81,54:138:99:1252,0,1796:53:99:0.400 chr20 48129706 rs5629 G T 2695.06 PASS BaseQRankSum=1.108;DP=112;Dels=0.00;FS=3.299;HRun=0;HaplotypeScore=6.6262;MQ=53;MQ0=0;MQRankSum=0.203;QD=24.06;ReadPosRankSum=-1.420;SB=-1925.10;TI=NM_000961;GI=PTGIS;FC=Synonymous_R373R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,110:112:99:2728,186,0:53:99:0.991 chr20 48562797 . CT C 126.11 R8 BaseQRankSum=1.949;DP=58;FS=0.000;HRun=15;HaplotypeScore=86.4525;MQ=50;MQ0=1;MQRankSum=-0.941;QD=2.17;ReadPosRankSum=1.094;SB=-74.36;TI=NM_018683;GI=RNF114;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,11:57:99:165,0,571:50:99:0.229 chr20 50408482 rs6013281 A G 427.41 LowDP DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=32.88;SB=-114.72;TI=NM_020436;GI=SALL4;FC=Synonymous_N180N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,13:13:36.11:460,36,0:54:36:1.000 chr20 52786219 rs2296241 G A 1181.60 PASS BaseQRankSum=-0.583;DP=94;Dels=0.00;FS=2.673;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=0.348;QD=12.57;ReadPosRankSum=-1.029;SB=-831.23;TI=NM_000782,NM_001128915;GI=CYP24A1,CYP24A1;FC=Synonymous_A184A,Synonymous_A184A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,49:94:99:1212,0,1045:53:99:0.521 chr20 54961463 rs1047972 T C 2549.78 PASS BaseQRankSum=1.693;DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.8312;MQ=53;MQ0=0;MQRankSum=1.615;QD=28.65;ReadPosRankSum=0.448;SB=-1685.70;TI=NM_198433,NM_198434,NM_198435,NM_198437,NM_198436,NM_003600;GI=AURKA,AURKA,AURKA,AURKA,AURKA,AURKA;FC=Missense_I57V,Missense_I57V,Missense_I57V,Missense_I57V,Missense_I57V,Missense_I57V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,88:89:99:2583,187,0:53:99:0.989 chr20 55750060 rs61733438 T C 1186.50 PASS BaseQRankSum=1.994;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=49;MQ0=0;MQRankSum=-0.979;QD=10.14;ReadPosRankSum=0.030;SB=-787.09;TI=NM_001719;GI=BMP7;FC=Missense_N321S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,56:117:99:1216,0,1355:49:99:0.479 chr20 56136536 rs1042521 A G 1546.18 PASS BaseQRankSum=2.477;DP=151;Dels=0.00;FS=3.924;HRun=0;HaplotypeScore=7.5407;MQ=53;MQ0=0;MQRankSum=0.382;QD=10.24;ReadPosRankSum=0.060;SB=-822.36;TI=NM_002591;GI=PCK1;FC=Synonymous_L23L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,63:151:99:1576,0,2088:53:99:0.423 chr20 56137184 rs6070157 C T 2001.13 PASS BaseQRankSum=0.462;DP=188;Dels=0.00;FS=4.217;HRun=1;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=1.753;QD=10.64;ReadPosRankSum=2.680;SB=-1185.38;TI=NM_002591;GI=PCK1;FC=Synonymous_I94I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:101,87:188:99:2031,0,2583:54:99:0.463 chr20 56137798 rs1062600 G A 2780.56 PASS BaseQRankSum=2.829;DP=222;Dels=0.00;FS=4.742;HRun=0;HaplotypeScore=9.7509;MQ=51;MQ0=0;MQRankSum=1.542;QD=12.53;ReadPosRankSum=1.212;SB=-1769.92;TI=NM_002591;GI=PCK1;FC=Synonymous_S151S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,119:222:99:2811,0,2567:51:99:0.538 chr20 56137807 rs1042523 A G 2601.92 PASS BaseQRankSum=1.261;DP=209;Dels=0.00;FS=8.042;HRun=0;HaplotypeScore=6.3904;MQ=51;MQ0=0;MQRankSum=0.233;QD=12.45;ReadPosRankSum=1.646;SB=-1682.35;TI=NM_002591;GI=PCK1;FC=Synonymous_S154S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,110:209:99:2632,0,2583:51:99:0.526 chr20 56137834 rs1062601 A G 2522.18 PASS BaseQRankSum=3.406;DP=213;Dels=0.00;FS=2.409;HRun=0;HaplotypeScore=8.9587;MQ=52;MQ0=0;MQRankSum=1.122;QD=11.84;ReadPosRankSum=1.744;SB=-1554.13;TI=NM_002591;GI=PCK1;FC=Synonymous_S163S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:105,108:213:99:2552,0,2618:52:99:0.507 chr20 56137895 rs707555 G C 4957.39 PASS DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0520;MQ=56;MQ0=0;QD=32.40;SB=-2301.08;TI=NM_002591;GI=PCK1;FC=Missense_V184L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,152:153:99:4957,367,0:56:99:1.000 chr20 56138621 rs8192708 A G 1306.23 PASS BaseQRankSum=-0.342;DP=113;Dels=0.00;FS=5.002;HRun=1;HaplotypeScore=6.3203;MQ=57;MQ0=0;MQRankSum=-1.031;QD=11.56;ReadPosRankSum=-0.342;SB=-722.35;TI=NM_002591;GI=PCK1;FC=Missense_I267V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,56:113:99:1336,0,1673:57:99:0.496 chr20 56138648 rs11552145 G A 2456.35 PASS BaseQRankSum=2.532;DP=194;Dels=0.00;FS=1.815;HRun=1;HaplotypeScore=8.2493;MQ=54;MQ0=0;MQRankSum=1.612;QD=12.66;ReadPosRankSum=-0.501;SB=-1310.31;TI=NM_002591;GI=PCK1;FC=Missense_E276K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,95:194:99:2486,0,2417:54:99:0.490 chr20 56139403 rs2070756 T C 1548.17 PASS BaseQRankSum=0.506;DP=94;Dels=0.00;FS=2.823;HRun=0;HaplotypeScore=2.6274;MQ=56;MQ0=0;MQRankSum=-0.177;QD=16.47;ReadPosRankSum=0.373;SB=-673.71;TI=NM_002591;GI=PCK1;FC=Synonymous_G380G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,56:94:99:1578,0,1019:56:99:0.602 chr20 57022712 . GTGTGTGCA G 8632.76 PASS DP=239;FS=0.000;HRun=0;HaplotypeScore=168.6989;MQ=48;MQ0=0;QD=36.12;SB=-3828.48;TI=NM_001195677,NM_004738,NR_036633;GI=VAPB,VAPB,VAPB;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:118,113:239:99:8633,343,0:48:99:0.489 chr20 57023562 rs4549163 A G 2894.06 PASS BaseQRankSum=0.172;DP=278;Dels=0.00;FS=0.440;HRun=0;HaplotypeScore=7.2036;MQ=56;MQ0=0;MQRankSum=1.288;QD=10.41;ReadPosRankSum=-0.757;SB=-1945.09;TI=NM_001195677,NM_004738,NR_036633;GI=VAPB,VAPB,VAPB;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:157,121:278:99:2924,0,3728:56:99:0.435 chr20 57024541 rs6015274 T C 801.68 PASS BaseQRankSum=0.948;DP=91;Dels=0.01;FS=0.818;HRun=0;HaplotypeScore=15.7823;MQ=59;MQ0=0;MQRankSum=-1.698;QD=8.81;ReadPosRankSum=0.013;SB=-438.17;TI=NM_001195677,NM_004738,NR_036633;GI=VAPB,VAPB,VAPB;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,32:90:99:832,0,1573:59:99:0.356 chr20 57244493 rs2296524 G A 1306.96 PASS BaseQRankSum=-1.081;DP=120;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.8049;MQ=56;MQ0=0;MQRankSum=0.136;QD=10.89;ReadPosRankSum=-0.756;SB=-828.01;TI=NM_001134773,NM_001134772,NM_003763,NM_001001433;GI=STX16,STX16,STX16,STX16;FC=Synonymous_Q163Q,Synonymous_Q176Q,Synonymous_Q159Q,Synonymous_Q180Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:61,59:120:99:1337,0,1643:56:99:0.492 chr20 57464277 . C CCGGCG 794.41 PASS BaseQRankSum=1.811;DP=45;FS=1.427;HRun=0;HaplotypeScore=31.1016;MQ=54;MQ0=0;MQRankSum=1.844;QD=17.65;ReadPosRankSum=2.964;SB=-309.12;TI=NM_016592,NM_080425,NM_001077490,NR_003259;GI=GNAS,GNAS,GNAS,GNAS;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,12:45:99:833,0,1590:54:99:0.267 chr20 57478807 rs7121 C T 3181.96 PASS DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=30.89;SB=-1512.19;TI=NM_016592,NM_080425,NM_001077490,NR_003259,NM_001077489,NM_000516,NM_080426,NM_001077488;GI=GNAS,GNAS,GNAS,GNAS,GNAS,GNAS,GNAS,GNAS;FC=Silent,Synonymous_I774I,Silent,Silent,Synonymous_I116I,Synonymous_I131I,Synonymous_I117I,Synonymous_I132I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,103:103:99:3215,235,0:56:99:1.000 chr20 57571763 rs9760 A G 4136.10 PASS BaseQRankSum=-0.866;DP=149;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5109;MQ=52;MQ0=0;MQRankSum=-0.206;QD=27.76;ReadPosRankSum=1.889;SB=-2820.18;TI=NM_001336;GI=CTSZ;FC=Synonymous_S244S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,147:149:99:4136,259,0:52:99:0.987 chr20 57572675 rs163785 A G 6106.86 PASS DP=223;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9044;MQ=54;MQ0=0;QD=27.39;SB=-4046.27;TI=NM_001336;GI=CTSZ;FC=Synonymous_Y207Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,223:223:99:6107,436,0:54:99:1.000 chr20 57599016 rs163777 T G 5684.70 PASS DP=186;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2132;MQ=55;MQ0=0;QD=30.56;SB=-2823.02;TI=NM_030773;GI=TUBB1;FC=Synonymous_T178T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,186:186:99:5685,415,0:55:99:1.000 chr20 60791404 rs3787429 C T 2399.60 PASS BaseQRankSum=0.890;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5142;MQ=56;MQ0=0;MQRankSum=-1.264;QD=15.48;ReadPosRankSum=-1.061;SB=-1320.10;TI=NM_007232;GI=HRH3;FC=Synonymous_S332S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,90:155:99:2430,0,1722:56:99:0.581 chr20 60885142 rs2379129 C A 2461.30 PASS BaseQRankSum=-2.816;DP=214;Dels=0.00;FS=5.847;HRun=0;HaplotypeScore=6.1856;MQ=57;MQ0=0;MQRankSum=0.219;QD=11.50;ReadPosRankSum=-2.587;SB=-1697.90;TI=NM_005560;GI=LAMA5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,111:214:99:2491,0,2683:57:99:0.521 chr20 60887581 rs944895 G A 1238.51 PASS BaseQRankSum=0.049;DP=123;Dels=0.00;FS=5.694;HRun=0;HaplotypeScore=8.0082;MQ=56;MQ0=0;MQRankSum=0.562;QD=10.07;ReadPosRankSum=-1.188;SB=-590.76;TI=NM_005560;GI=LAMA5;FC=Missense_R3079W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,51:123:99:1269,0,2038:56:99:0.415 chr20 60892526 rs2427281 A G 3379.60 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4321;MQ=57;MQ0=0;QD=29.91;SB=-1967.17;TI=NM_005560;GI=LAMA5;FC=Synonymous_D2462D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3380,250,0:57:99:1.000 chr20 60893506 . T G 785.85 PASS BaseQRankSum=-0.455;DP=57;Dels=0.00;FS=8.282;HRun=0;HaplotypeScore=3.4870;MQ=54;MQ0=0;MQRankSum=1.702;QD=13.79;ReadPosRankSum=-1.143;SB=-44.48;TI=NM_005560;GI=LAMA5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,27:57:99:816,0,798:54:99:0.474 chr20 60894840 rs35294553 G A 2343.67 PASS BaseQRankSum=-1.119;DP=196;Dels=0.00;FS=0.533;HRun=0;HaplotypeScore=11.6809;MQ=54;MQ0=0;MQRankSum=-0.381;QD=11.96;ReadPosRankSum=-1.555;SB=-1566.26;TI=NM_005560;GI=LAMA5;FC=Synonymous_T2257T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,105:196:99:2374,0,2015:54:99:0.536 chr20 60895697 rs2297587 C T 1678.87 PASS BaseQRankSum=-0.152;DP=110;Dels=0.00;FS=3.765;HRun=0;HaplotypeScore=11.1575;MQ=56;MQ0=0;MQRankSum=-0.480;QD=15.26;ReadPosRankSum=-0.827;SB=-698.34;TI=NM_005560;GI=LAMA5;FC=Missense_R2226H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,65:110:99:1709,0,1279:56:99:0.591 chr20 60897071 rs2274936 A G 5418.79 PASS DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=53;MQ0=0;QD=27.09;SB=-3231.03;TI=NM_005560;GI=LAMA5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,199:200:99:5419,394,0:53:99:1.000 chr20 60897487 rs2274934 C T 3225.28 PASS BaseQRankSum=0.960;DP=284;Dels=0.00;FS=0.919;HRun=1;HaplotypeScore=20.7838;MQ=52;MQ0=0;MQRankSum=4.494;QD=11.36;ReadPosRankSum=2.734;SB=-1854.11;TI=NM_005560;GI=LAMA5;FC=Missense_D2062N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:149,132:284:99:3255,0,3240:52:99:0.470 chr20 60897488 rs2274933 G A 3355.85 PASS BaseQRankSum=1.827;DP=280;Dels=0.00;FS=0.926;HRun=3;HaplotypeScore=19.9702;MQ=52;MQ0=0;MQRankSum=-0.068;QD=11.99;ReadPosRankSum=-3.025;SB=-2229.14;TI=NM_005560;GI=LAMA5;FC=Synonymous_F2061F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,150:280:99:3356,0,3203:52:99:0.538 chr20 60897707 . GC G 1968.47 PASS BaseQRankSum=0.848;DP=94;FS=4.219;HRun=3;HaplotypeScore=421.5557;MQ=53;MQ0=0;MQRankSum=0.335;QD=20.94;ReadPosRankSum=-0.217;SB=-848.25;TI=NM_005560;GI=LAMA5;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,56:94:99:2008,0,1183:53:99:0.596 chr20 60897721 rs3737137 C T 1402.60 PASS BaseQRankSum=-0.044;DP=94;Dels=0.00;FS=5.694;HRun=0;HaplotypeScore=16.6270;MQ=53;MQ0=0;MQRankSum=-1.098;QD=14.92;ReadPosRankSum=-0.408;SB=-847.37;TI=NM_005560;GI=LAMA5;FC=Missense_R2053H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,58:94:99:1433,0,925:53:99:0.624 chr20 60897772 rs6143021 T C 841.50 PASS BaseQRankSum=-0.690;DP=86;Dels=0.00;FS=0.854;HRun=0;HaplotypeScore=10.7420;MQ=54;MQ0=0;MQRankSum=1.736;QD=9.78;ReadPosRankSum=0.194;SB=-407.28;TI=NM_005560;GI=LAMA5;FC=Missense_H2036R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,33:86:99:871,0,1316:54:99:0.388 chr20 60898505 rs2379128 C T 470.06 SB BaseQRankSum=1.935;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9978;MQ=59;MQ0=0;MQRankSum=0.350;QD=12.70;ReadPosRankSum=0.015;SB=-0.01;TI=NM_005560;GI=LAMA5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,17:37:99:500,0,670:59:99:0.459 chr20 60899182 rs11698080 C T 227.66 PASS BaseQRankSum=-1.088;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=60;MQ0=0;MQRankSum=-0.165;QD=10.35;ReadPosRankSum=-1.286;SB=-112.66;TI=NM_005560;GI=LAMA5;FC=Missense_A1908T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,10:22:99:258,0,359:60:99:0.455 chr20 60899206 rs2427283 C T 433.82 PASS BaseQRankSum=-0.032;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60;MQ0=0;MQRankSum=-2.356;QD=18.86;ReadPosRankSum=-0.484;SB=-230.34;TI=NM_005560;GI=LAMA5;FC=Missense_V1900M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,15:23:99:464,0,223:60:99:0.652 chr20 60900481 rs2427284 A G 4070.47 PASS DP=142;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7502;MQ=54;MQ0=0;QD=28.67;SB=-2550.73;TI=NM_005560;GI=LAMA5;FC=Missense_F1807S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,142:142:99:4070,295,0:54:99:1.000 chr20 60900579 rs2427285 C A 2808.82 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.87;SB=-1017.80;TI=NM_005560;GI=LAMA5;FC=Synonymous_T1774T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2842,211,0:57:99:1.000 chr20 60902424 . GTCAGTGC G 2926.98 PASS BaseQRankSum=1.251;DP=133;FS=11.587;HRun=0;HaplotypeScore=370.2321;MQ=49;MQ0=0;MQRankSum=-6.766;QD=22.01;ReadPosRankSum=1.865;SB=-735.66;TI=NM_005560;GI=LAMA5;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,36:133:99:2966,0,8493:49:99:0.271 chr20 60903419 rs7262393 C T 2189.66 PASS BaseQRankSum=1.345;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.5099;MQ=55;MQ0=0;MQRankSum=-1.495;QD=13.95;ReadPosRankSum=-1.098;SB=-1315.87;TI=NM_005560;GI=LAMA5;FC=Synonymous_L1510L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,94:157:99:2220,0,1567:55:99:0.599 chr20 60904853 rs2427286 T C 4179.59 PASS DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4596;MQ=55;MQ0=0;QD=27.86;SB=-2677.69;TI=NM_005560;GI=LAMA5;FC=Missense_K1367E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:4180,298,0:55:99:1.000 chr20 60905878 rs3810548 A G 812.64 PASS BaseQRankSum=0.898;DP=62;Dels=0.00;FS=2.204;HRun=0;HaplotypeScore=12.0046;MQ=57;MQ0=0;MQRankSum=0.205;QD=13.11;ReadPosRankSum=-0.375;SB=-290.83;TI=NM_005560;GI=LAMA5;FC=Missense_M1258T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,28:62:99:843,0,1135:57:99:0.452 chr20 60907446 rs2151513 T C 1387.41 PASS BaseQRankSum=0.549;DP=103;Dels=0.00;FS=1.633;HRun=0;HaplotypeScore=5.5854;MQ=53;MQ0=0;MQRankSum=1.450;QD=13.47;ReadPosRankSum=-0.576;SB=-872.32;TI=NM_005560;GI=LAMA5;FC=Synonymous_E1178E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,59:103:99:1417,0,977:53:99:0.578 chr20 60907675 rs6142734 G A 1326.36 PASS BaseQRankSum=-0.544;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8253;MQ=54;MQ0=0;MQRankSum=1.487;QD=14.11;ReadPosRankSum=1.221;SB=-731.90;TI=NM_005560;GI=LAMA5;FC=Synonymous_A1127A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,52:94:99:1356,0,1058:54:99:0.553 chr20 60908964 rs13044266 G A 880.42 PASS BaseQRankSum=2.481;DP=96;Dels=0.00;FS=8.538;HRun=0;HaplotypeScore=6.3043;MQ=53;MQ0=0;MQRankSum=1.052;QD=9.17;ReadPosRankSum=-0.111;SB=-645.29;TI=NM_005560;GI=LAMA5;FC=Synonymous_C957C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,41:96:99:910,0,1377:53:99:0.427 chr20 60908969 rs13042941 T C 891.21 PASS BaseQRankSum=-0.437;DP=98;Dels=0.00;FS=5.353;HRun=0;HaplotypeScore=11.0428;MQ=53;MQ0=0;MQRankSum=-0.208;QD=9.09;ReadPosRankSum=-0.093;SB=-602.10;TI=NM_005560;GI=LAMA5;FC=Missense_T956A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,43:98:99:921,0,1440:53:99:0.439 chr20 60909060 rs13038331 A G 1673.72 PASS BaseQRankSum=1.498;DP=147;Dels=0.00;FS=1.324;HRun=4;HaplotypeScore=14.3906;MQ=51;MQ0=0;MQRankSum=-0.528;QD=11.39;ReadPosRankSum=0.485;SB=-1099.24;TI=NM_005560;GI=LAMA5;FC=Synonymous_P925P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,70:147:99:1704,0,1806:51:99:0.483 chr20 60909316 rs6062223 C T 2530.23 PASS BaseQRankSum=2.429;DP=180;Dels=0.00;FS=4.424;HRun=0;HaplotypeScore=6.3878;MQ=54;MQ0=0;MQRankSum=1.324;QD=14.06;ReadPosRankSum=-0.191;SB=-1439.80;TI=NM_005560;GI=LAMA5;FC=Missense_V889M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,103:180:99:2560,0,1801:54:99:0.572 chr20 60912683 rs2427289 T C 5763.54 PASS BaseQRankSum=1.673;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.3058;MQ=56;MQ0=0;MQRankSum=1.496;QD=32.75;ReadPosRankSum=0.551;SB=-3183.82;TI=NM_005560;GI=LAMA5;FC=Synonymous_T709T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,175:176:99:5764,433,0:56:99:0.994 chr20 60913127 rs8124907 A G 1596.58 PASS BaseQRankSum=0.724;DP=120;Dels=0.00;FS=10.330;HRun=1;HaplotypeScore=8.1915;MQ=56;MQ0=0;MQRankSum=2.167;QD=13.30;ReadPosRankSum=-0.174;SB=-787.06;TI=NM_005560;GI=LAMA5;FC=Synonymous_A612A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,53:120:99:1627,0,1833:56:99:0.442 chr20 60920887 rs11204472 G A 1280.74 PASS BaseQRankSum=1.346;DP=93;Dels=0.00;FS=1.706;HRun=0;HaplotypeScore=1.7608;MQ=52;MQ0=0;MQRankSum=0.058;QD=13.77;ReadPosRankSum=-1.478;SB=-814.50;TI=NM_005560;GI=LAMA5;FC=Synonymous_A488A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,53:93:99:1311,0,957:52:99:0.570 chr20 60921643 rs4925229 T C 2699.58 PASS DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.3197;MQ=50;MQ0=0;QD=29.03;SB=-1526.03;TI=NM_005560;GI=LAMA5;FC=Missense_T401A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:93:99:2733,205,0:50:99:1.000 chr20 60922010 . G A 2682.47 PASS BaseQRankSum=2.390;DP=205;Dels=0.00;FS=0.528;HRun=0;HaplotypeScore=15.5339;MQ=54;MQ0=0;MQRankSum=1.040;QD=13.09;ReadPosRankSum=0.627;SB=-1679.25;TI=NM_005560;GI=LAMA5;FC=Missense_P344L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:90,115:205:99:2712,0,2202:54:99:0.561 chr20 60927349 rs483876 C T 3570.73 PASS DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7182;MQ=51;MQ0=0;QD=26.85;SB=-2181.11;TI=NM_005560;GI=LAMA5;FC=Synonymous_A212A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:3571,259,0:51:99:1.000 chr20 60927412 rs624313 G A 724.43 PASS BaseQRankSum=-0.204;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3480;MQ=55;MQ0=0;MQRankSum=-0.148;QD=11.68;ReadPosRankSum=-2.641;SB=-313.39;TI=NM_005560;GI=LAMA5;FC=Synonymous_S191S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,30:62:99:754,0,763:55:99:0.484 chr20 60937597 rs477859 A G 2923.02 PASS BaseQRankSum=1.646;DP=234;Dels=0.00;FS=1.649;HRun=0;HaplotypeScore=20.5060;MQ=53;MQ0=0;MQRankSum=-0.141;QD=12.49;ReadPosRankSum=-1.126;SB=-1911.46;TI=NM_005560;GI=LAMA5;FC=Synonymous_C103C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,128:234:99:2953,0,2424:53:99:0.547 chr20 61448933 rs2273078 C A 651.09 PASS BaseQRankSum=-1.403;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2557;MQ=52;MQ0=0;MQRankSum=1.052;QD=9.72;ReadPosRankSum=1.551;SB=-444.31;TI=NM_001853;GI=COL9A3;FC=Synonymous_P31P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,29:67:99:681,0,777:52:99:0.453 chr20 61460338 rs6062700 C T 1365.81 PASS BaseQRankSum=0.960;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.1082;MQ=55;MQ0=0;MQRankSum=1.127;QD=12.76;ReadPosRankSum=0.774;SB=-473.09;TI=NM_001853;GI=COL9A3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,49:107:99:1396,0,1539:55:99:0.467 chr20 61468571 rs2294995 T C 1833.25 PASS BaseQRankSum=0.947;DP=159;Dels=0.01;FS=1.352;HRun=5;HaplotypeScore=22.2098;MQ=56;MQ0=0;MQRankSum=0.100;QD=11.53;ReadPosRankSum=0.147;SB=-649.66;TI=NM_001853;GI=COL9A3;FC=Synonymous_P580P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,64:158:99:1863,0,2610:56:99:0.413 chr20 61472073 rs1048100 C A 1210.24 PASS BaseQRankSum=-0.176;DP=110;Dels=0.00;FS=3.589;HRun=0;HaplotypeScore=8.1759;MQ=49;MQ0=0;MQRankSum=-1.070;QD=11.00;ReadPosRankSum=-1.271;SB=-627.56;TI=NM_001853;GI=COL9A3;FC=Synonymous_R682R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,45:110:99:1240,0,1514:49:99:0.409 chr20 61974664 rs45541941 G A 588.61 PASS BaseQRankSum=-1.209;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59;MQ0=0;MQRankSum=0.458;QD=13.38;ReadPosRankSum=0.153;SB=-53.97 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,22:44:99:619,0,645:59:99:0.500 chr20 61975829 . A AT 489.39 R8 BaseQRankSum=2.405;DP=111;FS=5.588;HRun=10;HaplotypeScore=498.3454;MQ=49;MQ0=0;MQRankSum=-3.522;QD=4.41;ReadPosRankSum=0.040;SB=-220.87;TI=NM_000744;GI=CHRNA4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:78,25:111:99:528,0,1659:49:99:0.243 chr20 61975846 . C CA 458.67 R8 BaseQRankSum=2.143;DP=106;FS=0.000;HRun=11;HaplotypeScore=530.4286;MQ=49;MQ0=0;MQRankSum=-3.289;QD=4.33;ReadPosRankSum=-0.537;SB=-84.83;TI=NM_000744;GI=CHRNA4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,18:106:99:498,0,1111:49:99:0.200 chr20 61977556 rs2236196 G A 3046.30 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9995;MQ=58;MQ0=0;QD=32.41;SB=-1038.51;TI=NM_000744;GI=CHRNA4;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:3079,226,0:58:99:1.000 chr20 61981536 rs2229960 A G 319.04 LowGQ;LowDP DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=31.90;SB=-80.64;TI=NM_000744;GI=CHRNA4;FC=Synonymous_C409C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,10:10:27.09:352,27,0:55:27:1.000 chr20 61981554 rs2229959 C A 439.63 LowDP DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=33.82;SB=-80.66;TI=NM_000744;GI=CHRNA4;FC=Synonymous_P403P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,13:13:36.12:473,36,0:56:36:1.000 chr20 61982085 rs1044394 A G 508.01 LowDP DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=29.88;SB=-148.62;TI=NM_000744;GI=CHRNA4;FC=Synonymous_C226C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,16:17:42.13:541,42,0:57:42:1.000 chr20 61982124 rs1044393 A G 554.19 LowDP DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1694;MQ=55;MQ0=0;QD=30.79;SB=-280.39;TI=NM_000744;GI=CHRNA4;FC=Synonymous_D213D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,18:18:45.13:587,45,0:55:45:1.000 chr20 61987447 . T G 5.78 LowGQX;LowVariantFreq;SB BaseQRankSum=-1.925;DP=43;Dels=0.00;FS=2.517;HRun=4;HaplotypeScore=8.3148;MQ=49;MQ0=0;MQRankSum=-2.615;QD=0.13;ReadPosRankSum=0.313;SB=-0.01;TI=NM_000744;GI=CHRNA4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,7:43:34.45:34,0,1014:49:6:0.163 chr20 61987452 . C G 103.48 SB BaseQRankSum=-1.583;DP=39;Dels=0.00;FS=8.220;HRun=6;HaplotypeScore=31.2899;MQ=48;MQ0=0;MQRankSum=-3.050;QD=2.65;ReadPosRankSum=0.450;SB=-0.01;TI=NM_000744;GI=CHRNA4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:30,9:39:99:133,0,715:48:99:0.231 chr20 61987459 . A G 29.12 SB BaseQRankSum=-2.421;DP=29;Dels=0.00;FS=2.682;HRun=6;HaplotypeScore=24.1095;MQ=48;MQ0=0;MQRankSum=-2.727;QD=1.00;ReadPosRankSum=0.127;SB=-0.01;TI=NM_000744;GI=CHRNA4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,7:29:59.11:59,0,566:48:29:0.241 chr20 61987466 . A G 10.82 LowVariantFreq;SB BaseQRankSum=-2.261;DP=28;Dels=0.11;FS=0.000;HRun=3;HaplotypeScore=26.8365;MQ=49;MQ0=0;MQRankSum=-2.928;QD=0.39;ReadPosRankSum=1.297;SB=-0.01;TI=NM_000744;GI=CHRNA4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,4:25:40.44:40,0,550:49:11:0.160 chr20 61987470 . T G 52.91 SB BaseQRankSum=-3.154;DP=25;Dels=0.04;FS=0.000;HRun=3;HaplotypeScore=29.6680;MQ=48;MQ0=0;MQRankSum=-3.950;QD=2.12;ReadPosRankSum=3.092;SB=-0.01;TI=NM_000744;GI=CHRNA4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,8:24:82.90:83,0,406:48:53:0.333 chr20 61987472 . A G 75.40 SB BaseQRankSum=-2.236;DP=25;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=29.6680;MQ=48;MQ0=0;MQRankSum=-3.652;QD=3.02;ReadPosRankSum=3.482;SB=-0.01;TI=NM_000744;GI=CHRNA4;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:16,9:25:99:105,0,438:48:75:0.360 chr20 61992547 rs6090387 G C 729.96 PASS DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=27.04;SB=-387.38;TI=NM_000744;GI=CHRNA4;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,27:27:57.17:763,57,0:56:57:1.000 chr20 61992699 . G A 241.37 LowGQ;LowDP DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=26.82;SB=-39.95 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,9:9:21.07:274,21,0:55:21:1.000 chr20 62038277 rs1801475 T G 2614.94 PASS DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5655;MQ=56;MQ0=0;QD=30.06;SB=-991.87;TI=NM_172108,NM_004518,NM_172107,NM_172106;GI=KCNQ2,KCNQ2,KCNQ2,KCNQ2;FC=Missense_N749T,Missense_N752T,Missense_N780T,Missense_N762T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2648,199,0:56:99:1.000 chr20 62046278 rs1801545 G C 1987.97 PASS BaseQRankSum=3.080;DP=221;Dels=0.00;FS=1.059;HRun=1;HaplotypeScore=6.2301;MQ=51;MQ0=0;MQRankSum=0.327;QD=9.00;ReadPosRankSum=-1.474;SB=-1292.68;TI=NM_172108,NM_004518,NM_172107,NM_172106;GI=KCNQ2,KCNQ2,KCNQ2,KCNQ2;FC=Synonymous_A471A,Synonymous_A473A,Synonymous_A501A,Synonymous_A483A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:127,94:221:99:2018,0,2841:51:99:0.425 chr20 62046362 . G A 1359.48 PASS BaseQRankSum=3.542;DP=157;Dels=0.00;FS=2.890;HRun=1;HaplotypeScore=4.5383;MQ=51;MQ0=0;MQRankSum=-0.031;QD=8.66;ReadPosRankSum=2.160;SB=-892.16;TI=NM_172108,NM_004518,NM_172107,NM_172106;GI=KCNQ2,KCNQ2,KCNQ2,KCNQ2;FC=Synonymous_L443L,Synonymous_L445L,Synonymous_L473L,Synonymous_L455L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:95,62:157:99:1389,0,2380:51:99:0.395 chr20 62070966 rs2297385 G A 953.20 PASS BaseQRankSum=1.518;DP=87;Dels=0.00;FS=4.294;HRun=2;HaplotypeScore=5.2548;MQ=53;MQ0=0;MQRankSum=-0.438;QD=10.96;ReadPosRankSum=1.518;SB=-407.59;TI=NM_172108,NM_004518,NM_172107,NM_172106,NM_172109;GI=KCNQ2,KCNQ2,KCNQ2,KCNQ2,KCNQ2;FC=Synonymous_F304F,Synonymous_F304F,Synonymous_F304F,Synonymous_F304F,Synonymous_F304F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,41:87:99:983,0,1083:53:99:0.471 chr20 62641575 rs2427588 G A 1612.13 PASS BaseQRankSum=2.105;DP=107;Dels=0.00;FS=1.601;HRun=0;HaplotypeScore=7.0704;MQ=54;MQ0=0;MQRankSum=-0.338;QD=15.07;ReadPosRankSum=-0.445;SB=-984.38;TI=NM_012469;GI=PRPF6;FC=Synonymous_S403S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,62:107:99:1642,0,1010:54:99:0.579 chr20 62648208 rs816919 C A 738.94 PASS BaseQRankSum=1.149;DP=53;Dels=0.00;FS=1.052;HRun=2;HaplotypeScore=0.9998;MQ=54;MQ0=0;MQRankSum=1.096;QD=13.94;ReadPosRankSum=0.526;SB=-434.24;TI=NM_012469;GI=PRPF6;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:25,28:53:99:769,0,610:54:99:0.528 chr20 62729702 . C A 5.93 LowGQX;LowGQ;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=47;MQ0=0;MQRankSum=0.804;QD=2.97;ReadPosRankSum=0.804;SB=-0.02;TI=NM_182647,NM_000913,NM_001200019;GI=OPRL1,OPRL1,OPRL1;FC=Synonymous_L221L,Synonymous_L221L,Synonymous_L221L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:22.63:35,0,23:47:6:0.500 chr21 10920098 rs212146 T C 4672.27 PASS DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5405;MQ=54;MQ0=0;QD=27.81;SB=-3170.98;TI=NM_199260,NM_199259,NM_199261;GI=TPTE,TPTE,TPTE;FC=Missense_K348E,Missense_K368E,Missense_K386E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,167:168:99:4672,337,0:54:99:1.000 chr21 15481365 rs7278737 G T 1891.26 PASS BaseQRankSum=0.220;DP=186;Dels=0.00;FS=2.562;HRun=1;HaplotypeScore=0.8941;MQ=54;MQ0=0;MQRankSum=2.812;QD=10.17;ReadPosRankSum=1.222;SB=-1410.43;TI=NM_198996;GI=LIPI;FC=Missense_D465E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:100,86:186:99:1921,0,2401:54:99:0.462 chr21 15516976 rs7283442 T A 2706.54 PASS DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7714;MQ=57;MQ0=0;QD=29.74;SB=-1505.03;TI=NM_198996;GI=LIPI;FC=Missense_R442S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,91:91:99:2740,202,0:57:99:1.000 chr21 19770562 rs2824804 T C 844.90 PASS BaseQRankSum=1.838;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=53;MQ0=0;MQRankSum=-0.189;QD=10.06;ReadPosRankSum=1.514;SB=-449.64;TI=NM_002772;GI=TMPRSS15;FC=Missense_K77R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,37:84:99:875,0,1279:53:99:0.440 chr21 30341891 rs2254796 A G 597.40 PASS BaseQRankSum=0.381;DP=75;Dels=0.00;FS=0.930;HRun=0;HaplotypeScore=2.7041;MQ=53;MQ0=0;MQRankSum=-0.844;QD=7.97;ReadPosRankSum=0.668;SB=-370.73;TI=NM_015565;GI=LTN1;FC=Missense_L449S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,27:75:99:627,0,1246:53:99:0.360 chr21 33040849 . T A 1104.66 PASS BaseQRankSum=2.017;DP=100;Dels=0.00;FS=3.872;HRun=0;HaplotypeScore=7.1658;MQ=55;MQ0=0;MQRankSum=1.298;QD=11.05;ReadPosRankSum=0.014;SB=-524.30;TI=NM_000454;GI=SOD1;FC=Synonymous_A141A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,47:100:99:1135,0,1294:55:99:0.470 chr21 34715699 rs2257167 G C 912.36 PASS BaseQRankSum=0.956;DP=53;Dels=0.00;FS=1.194;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=-0.420;QD=17.21;ReadPosRankSum=2.511;SB=-240.42;TI=NM_000629;GI=IFNAR1;FC=Missense_V168L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,29:53:99:942,0,749:59:99:0.547 chr21 34787312 rs9808753 A G 3421.00 PASS DP=129;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=53;MQ0=0;QD=26.52;SB=-2366.78;TI=NM_005534;GI=IFNGR2;FC=Missense_Q64R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3421,241,0:53:99:1.000 chr21 34799350 rs11910627 C G 2092.98 PASS DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=27.91;SB=-1255.72;TI=NM_005534;GI=IFNGR2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:75:99:2126,153,0:57:99:1.000 chr21 35821821 rs1805127;rs17846179 T C 4894.14 PASS BaseQRankSum=1.615;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.2812;MQ=57;MQ0=0;MQRankSum=-0.213;QD=31.37;ReadPosRankSum=-0.087;SB=-1468.24;TI=NM_001127670,NM_001127668,NM_001127669,NM_000219;GI=KCNE1,KCNE1,KCNE1,KCNE1;FC=Missense_S38G,Missense_S38G,Missense_S38G,Missense_S38G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,154:156:99:4894,330,0:57:99:0.987 chr21 35890409 rs59601528 C T 2353.23 PASS BaseQRankSum=0.644;DP=187;Dels=0.00;FS=2.595;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=2.674;QD=12.58;ReadPosRankSum=0.850;SB=-1198.74;TI=NM_203418,NM_203417,NM_004414;GI=RCAN1,RCAN1,RCAN1;FC=Synonymous_P189P,Synonymous_P109P,Synonymous_P244P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,93:187:99:2383,0,2325:52:99:0.497 chr21 37507501 rs8133052 G A 894.15 PASS BaseQRankSum=-0.488;DP=45;Dels=0.00;FS=3.960;HRun=0;HaplotypeScore=1.7608;MQ=57;MQ0=0;MQRankSum=0.038;QD=19.87;ReadPosRankSum=-2.116;SB=-266.56;TI=NM_001236;GI=CBR3;FC=Missense_C4Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,32:45:99:924,0,383:57:99:0.711 chr21 37507745 rs881711 C T 1071.66 PASS BaseQRankSum=1.651;DP=84;Dels=0.00;FS=0.856;HRun=0;HaplotypeScore=1.7882;MQ=52;MQ0=0;MQRankSum=2.599;QD=12.76;ReadPosRankSum=-2.214;SB=-495.18;TI=NM_001236;GI=CBR3;FC=Synonymous_N85N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,42:84:99:1102,0,979:52:99:0.500 chr21 37507769 rs881712 C T 646.79 PASS BaseQRankSum=1.096;DP=61;Dels=0.00;FS=2.293;HRun=1;HaplotypeScore=1.8316;MQ=54;MQ0=0;MQRankSum=1.764;QD=10.60;ReadPosRankSum=1.387;SB=-319.31;TI=NM_001236;GI=CBR3;FC=Synonymous_V93V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,27:61:99:677,0,886:54:99:0.443 chr21 37833307 rs219780 C T 1178.27 PASS BaseQRankSum=0.802;DP=83;Dels=0.00;FS=6.769;HRun=0;HaplotypeScore=2.8933;MQ=55;MQ0=0;MQRankSum=0.115;QD=14.20;ReadPosRankSum=-1.452;SB=-509.17;TI=NM_012130,NM_144492,NM_001146079,NM_001146078,NM_001146077;GI=CLDN14,CLDN14,CLDN14,CLDN14,CLDN14;FC=Synonymous_T229T,Synonymous_T229T,Synonymous_T229T,Synonymous_T229T,Synonymous_T229T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,46:83:99:1208,0,1078:55:99:0.554 chr21 37833751 rs219779 G A 3758.51 PASS BaseQRankSum=-1.348;DP=318;Dels=0.00;FS=3.040;HRun=0;HaplotypeScore=13.5716;MQ=53;MQ0=0;MQRankSum=1.535;QD=11.82;ReadPosRankSum=-0.682;SB=-2088.93;TI=NM_012130,NM_144492,NM_001146079,NM_001146078,NM_001146077;GI=CLDN14,CLDN14,CLDN14,CLDN14,CLDN14;FC=Synonymous_R81R,Synonymous_R81R,Synonymous_R81R,Synonymous_R81R,Synonymous_R81R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:167,151:318:99:3759,0,3974:53:99:0.475 chr21 38997701 rs702859 G A 5828.94 PASS DP=207;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0001;MQ=53;MQ0=0;QD=28.16;SB=-3899.92;TI=NM_002240;GI=KCNJ6;FC=Synonymous_D344D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,206:207:99:5829,415,0:53:99:1.000 chr21 39494743 . TA T 111.86 R8;SB BaseQRankSum=0.103;DP=44;FS=1.862;HRun=12;HaplotypeScore=147.7567;MQ=55;MQ0=0;MQRankSum=1.045;QD=2.54;ReadPosRankSum=-0.544;SB=-7.34;TI=NR_026841,NR_026840,NR_026842,NR_026838,NR_026839;GI=DSCR8,DSCR8,DSCR8,DSCR8,DSCR8;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,9:44:99:151,0,612:55:99:0.250 chr21 40571246 rs1041439 A G 5154.48 PASS DP=163;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.5643;MQ=54;MQ0=0;QD=31.62;SB=-2661.35;TI=NM_018963,NM_033656;GI=BRWD1,BRWD1;FC=Missense_L1699P,Missense_L1699P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,163:163:99:5154,376,0:54:99:1.000 chr21 40574305 rs2183573 A G 5100.16 PASS BaseQRankSum=-0.997;DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=54;MQ0=0;MQRankSum=0.142;QD=28.18;ReadPosRankSum=-0.102;SB=-3042.47;TI=NM_018963,NM_033656;GI=BRWD1,BRWD1;FC=Missense_S1511P,Missense_S1511P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,179:181:99:5100,325,0:54:99:0.989 chr21 40584598 rs6517529 C T 2309.48 PASS DP=85;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=27.17;SB=-1616.21;TI=NM_018963,NM_033656;GI=BRWD1,BRWD1;FC=Synonymous_R1298R,Synonymous_R1298R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:85:99:2342,169,0:54:99:1.000 chr21 40604429 rs2836950 C G 2340.88 PASS DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8939;MQ=54;MQ0=0;QD=27.87;SB=-1153.20;TI=NM_018963,NM_033656;GI=BRWD1,BRWD1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2374,169,0:54:99:1.000 chr21 40670460 rs2056844 G C 4532.27 PASS DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4050;MQ=53;MQ0=0;QD=28.33;SB=-3103.61;TI=NM_018963,NM_033656,NM_001007246;GI=BRWD1,BRWD1,BRWD1;FC=Missense_Q83E,Missense_Q83E,Missense_Q83E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,158:160:99:4532,325,0:53:99:1.000 chr21 41684090 rs34336407 C T 943.29 PASS BaseQRankSum=1.006;DP=88;Dels=0.00;FS=3.412;HRun=0;HaplotypeScore=0.8667;MQ=57;MQ0=0;MQRankSum=1.910;QD=10.72;ReadPosRankSum=0.264;SB=-210.95;TI=NM_001389;GI=DSCAM;FC=Synonymous_S660S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,35:88:99:973,0,1407:57:99:0.398 chr21 42812891 rs467960 C T 4367.61 PASS BaseQRankSum=-0.118;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=51;MQ0=0;MQRankSum=-1.260;QD=24.82;ReadPosRankSum=1.594;SB=-3021.02;TI=NM_001144925,NM_002462,NM_001178046;GI=MX1,MX1,MX1;FC=Synonymous_I223I,Synonymous_I223I,Synonymous_I223I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,175:176:99:4368,272,0:51:99:0.994 chr21 42817930 rs469390 G A 1551.36 PASS DP=48;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=32.32;SB=-686.22;TI=NM_001144925,NM_002462,NM_001178046;GI=MX1,MX1,MX1;FC=Missense_V379I,Missense_V379I,Missense_V379I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:99:1584,117,0:58:99:1.000 chr21 42824733 rs469304 G A 4095.98 PASS DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7722;MQ=55;MQ0=0;QD=29.26;SB=-2232.03;TI=NM_001144925,NM_002462,NM_001178046;GI=MX1,MX1,MX1;FC=Synonymous_Q565Q,Synonymous_Q565Q,Synonymous_Q565Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,140:140:99:4096,298,0:55:99:1.000 chr21 43161022 rs7276592 C T 3634.06 PASS DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.0704;MQ=54;MQ0=0;QD=30.03;SB=-1524.39;TI=NM_020639;GI=RIPK4;FC=Synonymous_T777T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3634,271,0:54:99:1.000 chr21 43161357 rs3746891 T C 5971.53 PASS DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.2121;MQ=56;MQ0=0;QD=33.74;SB=-3217.36;TI=NM_020639;GI=RIPK4;FC=Missense_M666V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,176:177:99:5972,442,0:56:99:1.000 chr21 43161805 rs2838113 G A 6004.43 PASS DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8750;MQ=57;MQ0=0;QD=30.48;SB=-3595.13;TI=NM_020639;GI=RIPK4;FC=Synonymous_D516D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,197:197:99:6004,439,0:57:99:1.000 chr21 43161877 rs3746893 C T 4866.31 PASS DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2390;MQ=58;MQ0=0;QD=30.41;SB=-2831.36;TI=NM_020639;GI=RIPK4;FC=Synonymous_A492A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,160:160:99:4866,361,0:58:99:1.000 chr21 43162150 rs3746894 G A 5520.77 PASS DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=56;MQ0=0;QD=31.19;SB=-2380.97;TI=NM_020639;GI=RIPK4;FC=Synonymous_G401G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,177:177:99:5521,400,0:56:99:1.000 chr21 43164232 rs2277789 C A 4615.44 PASS DP=151;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6655;MQ=55;MQ0=0;QD=30.57;SB=-2689.72;TI=NM_020639;GI=RIPK4;FC=Synonymous_L335L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,151:151:99:4615,334,0:55:99:1.000 chr21 43708431 . G GC 3174.91 PASS DP=88;FS=0.000;HRun=3;HaplotypeScore=30.2968;MQ=59;MQ0=0;QD=36.08;SB=-1143.25;TI=NM_207627,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174;GI=ABCG1,ABCG1,ABCG1,ABCG1,ABCG1,ABCG1;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:7,81:88:99:3217,247,0:59:99:0.920 chr21 43786512 rs225358 C T 1077.62 PASS BaseQRankSum=-1.380;DP=77;Dels=0.00;FS=2.147;HRun=0;HaplotypeScore=2.7605;MQ=56;MQ0=0;MQRankSum=-0.149;QD=14.00;ReadPosRankSum=0.969;SB=-451.52;TI=NM_003225;GI=TFF1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,43:77:99:1108,0,975:56:99:0.558 chr21 43810084 rs928302 C T 837.88 PASS BaseQRankSum=-0.296;DP=54;Dels=0.00;FS=1.062;HRun=0;HaplotypeScore=1.8939;MQ=54;MQ0=0;MQRankSum=2.373;QD=15.52;ReadPosRankSum=2.194;SB=-600.11;TI=NM_024022,NM_032405;GI=TMPRSS3,TMPRSS3;FC=Missense_V53I,Missense_V53I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,34:54:99:868,0,449:54:99:0.630 chr21 43816548 rs3814902 A G 2470.94 PASS BaseQRankSum=1.068;DP=221;Dels=0.00;FS=2.420;HRun=0;HaplotypeScore=16.2107;MQ=56;MQ0=0;MQRankSum=-0.090;QD=11.18;ReadPosRankSum=-1.102;SB=-1214.84 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:126,95:221:99:2501,0,3435:56:99:0.430 chr21 43816624 rs3829962 C T 2009.85 PASS BaseQRankSum=-0.359;DP=238;Dels=0.00;FS=2.437;HRun=2;HaplotypeScore=20.3488;MQ=58;MQ0=0;MQRankSum=-0.550;QD=8.44;ReadPosRankSum=-1.181;SB=-1094.36 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:155,81:238:99:2040,0,4172:58:99:0.343 chr21 43816655 rs28485865 G A 3526.98 PASS BaseQRankSum=1.078;DP=198;Dels=0.00;FS=1.834;HRun=0;HaplotypeScore=12.1819;MQ=58;MQ0=0;MQRankSum=1.778;QD=17.81;ReadPosRankSum=1.667;SB=-2120.71 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,128:198:99:3527,0,1901:58:99:0.646 chr21 44283574 rs11911090 C T 2502.75 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1080;MQ=52;MQ0=0;QD=26.62;SB=-1293.73;TI=NM_033661,NM_018669;GI=WDR4,WDR4;FC=Synonymous_G143G,Synonymous_G143G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:94:99:2536,184,0:52:99:1.000 chr21 44323590 rs4148973 T G 5453.19 PASS BaseQRankSum=1.672;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1200;MQ=58;MQ0=0;MQRankSum=1.672;QD=31.16;ReadPosRankSum=0.478;SB=-2524.85;TI=NM_001001503,NM_021075;GI=NDUFV3,NDUFV3;FC=Silent,Synonymous_S156S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,173:175:99:5453,400,0:58:99:0.994 chr21 44324365 rs10595 G A 5870.59 PASS DP=178;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6544;MQ=57;MQ0=0;QD=32.98;SB=-1407.91;TI=NM_001001503,NM_021075;GI=NDUFV3,NDUFV3;FC=Silent,Missense_D415N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,178:178:99:5871,433,0:57:99:1.000 chr21 44480616 rs1801181 G A 2002.14 PASS BaseQRankSum=-0.988;DP=173;Dels=0.00;FS=1.897;HRun=0;HaplotypeScore=8.1756;MQ=56;MQ0=0;MQRankSum=1.237;QD=11.57;ReadPosRankSum=-0.345;SB=-1135.21;TI=NM_000071,NM_001178009,NM_001178008;GI=CBS,CBS,CBS;FC=Synonymous_A360A,Synonymous_A360A,Synonymous_A360A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,87:173:99:2032,0,2071:56:99:0.503 chr21 44485350 rs234706 G A 4522.66 PASS BaseQRankSum=0.334;DP=173;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5067;MQ=51;MQ0=0;MQRankSum=-0.334;QD=26.14;ReadPosRankSum=1.342;SB=-3035.72;TI=NM_000071,NM_001178009,NM_001178008;GI=CBS,CBS,CBS;FC=Synonymous_Y233Y,Synonymous_Y233Y,Synonymous_Y233Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,171:173:99:4523,256,0:51:99:0.988 chr21 44589215 rs872331 C T 984.46 PASS BaseQRankSum=0.811;DP=53;Dels=0.00;FS=13.342;HRun=0;HaplotypeScore=2.8937;MQ=57;MQ0=0;MQRankSum=-0.789;QD=18.57;ReadPosRankSum=-0.486;SB=-403.91;TI=NM_000394;GI=CRYAA;FC=Synonymous_D2D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,38:53:99:1014,0,382:57:99:0.745 chr21 45092257 rs2251253 T A 991.48 PASS BaseQRankSum=-1.299;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;MQRankSum=-1.700;QD=11.27;ReadPosRankSum=0.021;SB=-727.01;TI=NM_015056;GI=RRP1B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,46:88:99:1021,0,1014:52:99:0.523 chr21 45096206 rs2155722 G A 3757.27 PASS BaseQRankSum=1.703;DP=121;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.1462;MQ=56;MQ0=0;MQRankSum=1.703;QD=31.05;ReadPosRankSum=0.759;SB=-1760.51;TI=NM_015056;GI=RRP1B;FC=Synonymous_A201A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,120:121:99:3757,274,0:56:99:0.992 chr21 45107518 rs7279959 A G 3843.44 PASS DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7602;MQ=55;MQ0=0;QD=31.50;SB=-2140.65;TI=NM_015056;GI=RRP1B;FC=Synonymous_P421P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3843,283,0:55:99:1.000 chr21 45107562 rs9306160 T C 819.97 PASS BaseQRankSum=0.274;DP=77;Dels=0.00;FS=7.799;HRun=1;HaplotypeScore=4.5761;MQ=58;MQ0=0;MQRankSum=1.587;QD=10.65;ReadPosRankSum=0.904;SB=-345.88;TI=NM_015056;GI=RRP1B;FC=Missense_L436P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,32:77:99:850,0,1306:58:99:0.416 chr21 45681153 rs2070565 T C 1449.48 PASS DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.99;SB=-835.76;TI=NM_175867,NM_013369;GI=DNMT3L,DNMT3L;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:50:99:1482,105,0:55:99:1.000 chr21 45708277 rs878081 C T 1106.84 PASS BaseQRankSum=1.294;DP=110;Dels=0.00;FS=0.718;HRun=0;HaplotypeScore=5.5208;MQ=52;MQ0=0;MQRankSum=0.231;QD=10.06;ReadPosRankSum=0.399;SB=-731.50;TI=NM_000383;GI=AIRE;FC=Synonymous_S196S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,50:110:99:1137,0,1495:52:99:0.455 chr21 45712977 rs1800521 T C 1268.26 PASS BaseQRankSum=-0.747;DP=135;Dels=0.00;FS=1.430;HRun=2;HaplotypeScore=6.9262;MQ=52;MQ0=0;MQRankSum=2.797;QD=9.39;ReadPosRankSum=-0.437;SB=-781.22;TI=NM_000383,NM_000658;GI=AIRE,AIRE;FC=Synonymous_A399A,Synonymous_A202A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,59:135:99:1298,0,1709:52:99:0.437 chr21 45717550 rs1133779 T C 1736.05 PASS BaseQRankSum=-1.759;DP=149;Dels=0.00;FS=2.978;HRun=0;HaplotypeScore=6.2546;MQ=54;MQ0=0;MQRankSum=1.447;QD=11.65;ReadPosRankSum=1.919;SB=-900.40;TI=NM_000383,NM_000658;GI=AIRE,AIRE;FC=Synonymous_D526D,Synonymous_D329D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:79,70:149:99:1766,0,2028:54:99:0.470 chr21 45802622 . C T 1833.26 PASS BaseQRankSum=3.911;DP=147;Dels=0.00;FS=2.915;HRun=0;HaplotypeScore=1.8939;MQ=53;MQ0=0;MQRankSum=0.002;QD=12.47;ReadPosRankSum=0.686;SB=-1233.17;TI=NM_003307;GI=TRPM2;FC=Missense_R413W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,80:147:99:1863,0,1528:53:99:0.544 chr21 45817620 rs1785436 T C 713.85 PASS BaseQRankSum=-0.861;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5995;MQ=56;MQ0=0;MQRankSum=0.601;QD=11.70;ReadPosRankSum=0.253;SB=-480.35;TI=NM_003307;GI=TRPM2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,33:61:99:744,0,658:56:99:0.541 chr21 45844751 rs9978351 A G 2053.90 PASS DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8675;MQ=53;MQ0=0;QD=26.00;SB=-1239.53;TI=NM_003307;GI=TRPM2;FC=Missense_Q1189R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2087,150,0:53:99:1.000 chr21 46311813 rs235326 A G 1006.23 PASS BaseQRankSum=1.814;DP=114;Dels=0.00;FS=2.504;HRun=1;HaplotypeScore=2.6823;MQ=55;MQ0=0;MQRankSum=0.191;QD=8.83;ReadPosRankSum=-0.400;SB=-561.02;TI=NM_000211,NM_001127491;GI=ITGB2,ITGB2;FC=Synonymous_V441V,Synonymous_V441V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:69,45:114:99:1036,0,1757:55:99:0.395 chr21 46314907 rs235330 T A 3455.27 PASS DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=52;MQ0=0;QD=26.99;SB=-2349.09;TI=NM_000211,NM_001127491;GI=ITGB2,ITGB2;FC=Missense_Q354H,Missense_Q354H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,127:128:99:3455,247,0:52:99:1.000 chr21 46875564 rs914230 T C 3567.81 PASS DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2922;MQ=53;MQ0=0;QD=29.24;SB=-2340.12;TI=NM_130445,NM_030582,NM_130444;GI=COL18A1,COL18A1,COL18A1;FC=Silent,Synonymous_H40H,Synonymous_H40H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,122:122:99:3568,256,0:53:99:1.000 chr21 46876083 rs2236451 A G 164.00 LowGQ;SB;LowDP DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=32.80;SB=-0.01;TI=NM_130445,NM_030582,NM_130444;GI=COL18A1,COL18A1,COL18A1;FC=Silent,Synonymous_P213P,Synonymous_P213P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:15.05:197,15,0:60:15:1.000 chr21 46908355 rs11702425 T C 3148.13 PASS BaseQRankSum=0.456;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9995;MQ=50;MQ0=0;MQRankSum=0.753;QD=27.14;ReadPosRankSum=0.944;SB=-2118.55;TI=NM_130445,NM_030582,NM_130444;GI=COL18A1,COL18A1,COL18A1;FC=Synonymous_L640L,Synonymous_L820L,Synonymous_L1055L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,114:116:99:3181,190,0:50:99:0.983 chr21 46924425 . CGGCCCCCCA C 5250.45 PASS DP=72;FS=0.000;HRun=0;HaplotypeScore=91.4857;MQ=38;MQ0=0;QD=72.92;SB=-2298.52;TI=NM_130445,NM_030582,NM_130444;GI=COL18A1,COL18A1,COL18A1;FC=Splicing,Splicing,Splicing;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:13,57:72:99:5250,177,0:38:99:0.814 chr21 46929467 rs1050351 G A 1813.08 PASS DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.5966;MQ=52;MQ0=0;QD=25.54;SB=-924.48;TI=NM_130445,NM_030582,NM_130444;GI=COL18A1,COL18A1,COL18A1;FC=Synonymous_A1146A,Synonymous_A1326A,Synonymous_A1561A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,67:71:99:1846,138,0:52:99:1.000 chr21 46929522 rs3835286 GC G 3199.87 PASS DP=98;FS=0.000;HRun=7;HaplotypeScore=253.3935;MQ=50;MQ0=0;QD=32.65;SB=-1620.01;TI=NM_130445,NM_030582,NM_130444;GI=COL18A1,COL18A1,COL18A1;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,93:98:99:3242,277,0:50:99:0.959 chr21 46935077 . TAA T,TA 2164.80 R8 BaseQRankSum=-1.410;DP=97;FS=0.000;HaplotypeScore=244.8566;MQ=56;MQ0=0;MQRankSum=0.645;QD=22.32;ReadPosRankSum=1.249;SB=-389.01;TI=NM_194255;GI=SLC19A1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:15,24,1:97:99:2243,1251,1195,750,0,516:56:99:0.625 chr21 47422122 . T C 1013.99 PASS BaseQRankSum=1.447;DP=72;Dels=0.00;FS=0.909;HRun=0;HaplotypeScore=7.0979;MQ=55;MQ0=0;MQRankSum=1.526;QD=14.08;ReadPosRankSum=-1.312;SB=-528.46;TI=NM_001848;GI=COL6A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,36:72:99:1044,0,978:55:99:0.500 chr21 47423509 rs13051496 C T 3992.71 PASS BaseQRankSum=0.177;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.6246;MQ=54;MQ0=0;MQRankSum=0.695;QD=27.16;ReadPosRankSum=0.507;SB=-2699.75;TI=NM_001848;GI=COL6A1;FC=Missense_S890L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,146:147:99:3993,254,0:54:99:0.993 chr21 47532440 rs59531343 C T 1231.71 PASS BaseQRankSum=0.022;DP=111;Dels=0.00;FS=0.759;HRun=0;HaplotypeScore=17.9498;MQ=53;MQ0=0;MQRankSum=-0.938;QD=11.10;ReadPosRankSum=-1.455;SB=-796.79;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Synonymous_P221P,Synonymous_P221P,Synonymous_P221P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,55:111:99:1262,0,1117:53:99:0.514 chr21 47538960 rs2839110 G A 3872.94 PASS BaseQRankSum=1.687;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.3093;MQ=50;MQ0=0;MQRankSum=1.709;QD=25.31;ReadPosRankSum=1.506;SB=-2743.14;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Missense_S399N,Missense_S399N,Missense_S399N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,152:153:99:3873,253,0:50:99:0.993 chr21 47542861 rs915786 A G 1879.02 PASS DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=54;MQ0=0;QD=26.10;SB=-1310.95;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:1912,135,0:54:99:1.000 chr21 47545768 rs1042917 G A 1719.63 PASS BaseQRankSum=0.248;DP=127;Dels=0.00;FS=0.699;HRun=0;HaplotypeScore=5.4154;MQ=54;MQ0=0;MQRankSum=-1.507;QD=13.54;ReadPosRankSum=0.075;SB=-710.80;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Missense_R680H,Missense_R680H,Missense_R680H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,65:127:99:1750,0,1582:54:99:0.512 chr21 47545823 rs13052956 G A 2154.18 PASS BaseQRankSum=2.978;DP=148;Dels=0.00;FS=1.316;HRun=0;HaplotypeScore=8.4143;MQ=54;MQ0=0;MQRankSum=-1.187;QD=14.56;ReadPosRankSum=-1.622;SB=-1089.39;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Synonymous_A698A,Synonymous_A698A,Synonymous_A698A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:67,81:148:99:2184,0,1659:54:99:0.547 chr21 47545826 rs13046639 C T 2068.05 PASS BaseQRankSum=1.947;DP=143;Dels=0.00;FS=3.092;HRun=0;HaplotypeScore=8.2815;MQ=54;MQ0=0;MQRankSum=-0.002;QD=14.46;ReadPosRankSum=-2.243;SB=-946.81;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Synonymous_G699G,Synonymous_G699G,Synonymous_G699G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,79:143:99:2098,0,1583:54:99:0.552 chr21 47552209 rs35548026 G A 2753.61 PASS BaseQRankSum=2.752;DP=213;Dels=0.00;FS=3.586;HRun=0;HaplotypeScore=15.4168;MQ=56;MQ0=0;MQRankSum=3.015;QD=12.93;ReadPosRankSum=-2.856;SB=-815.60;TI=NM_001849;GI=COL6A2;FC=Missense_G935R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:114,99:213:99:2784,0,2942:56:99:0.465 chr21 47571845 rs61729391 C T 1360.28 PASS BaseQRankSum=1.574;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.9745;MQ=52;MQ0=0;MQRankSum=0.281;QD=11.63;ReadPosRankSum=-0.112;SB=-847.99;TI=NM_006657,NM_206965;GI=FTCD,FTCD;FC=Synonymous_P139P,Synonymous_P139P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,61:117:99:1390,0,1374:52:99:0.521 chr21 47665116 . GAAGA G 2606.51 PASS BaseQRankSum=-0.970;DP=74;FS=0.000;HRun=0;HaplotypeScore=50.6571;MQ=56;MQ0=0;MQRankSum=-0.510;QD=35.22;ReadPosRankSum=-0.028;SB=-953.87;TI=NR_002776,NM_003906;GI=MCM3AP-AS1,MCM3AP;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,43:74:99:2646,0,1786:56:99:0.581 chr21 47676711 rs2839173 G A 1292.50 PASS BaseQRankSum=-0.435;DP=92;Dels=0.00;FS=13.206;HRun=1;HaplotypeScore=3.6611;MQ=56;MQ0=0;MQRankSum=-0.012;QD=14.05;ReadPosRankSum=3.179;SB=-756.38;TI=NM_003906;GI=MCM3AP;FC=Synonymous_S1308S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,50:92:99:1322,0,1143:56:99:0.543 chr21 47685939 rs2839181 A G 1898.01 PASS BaseQRankSum=2.278;DP=188;Dels=0.00;FS=1.180;HRun=0;HaplotypeScore=6.3988;MQ=56;MQ0=0;MQRankSum=-0.592;QD=10.10;ReadPosRankSum=1.969;SB=-1056.67;TI=NM_003906;GI=MCM3AP;FC=Synonymous_H977H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:109,79:188:99:1928,0,2689:56:99:0.420 chr21 47703649 rs11702450 G A 2222.09 PASS BaseQRankSum=0.618;DP=196;Dels=0.00;FS=1.126;HRun=0;HaplotypeScore=6.6797;MQ=54;MQ0=0;MQRankSum=0.527;QD=11.34;ReadPosRankSum=-1.538;SB=-1353.40;TI=NM_003906;GI=MCM3AP;FC=Synonymous_N441N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,90:196:99:2252,0,2580:54:99:0.459 chr21 47704896 rs9975588 G A 3224.03 PASS BaseQRankSum=0.042;DP=225;Dels=0.00;FS=3.863;HRun=2;HaplotypeScore=7.2797;MQ=56;MQ0=0;MQRankSum=-0.526;QD=14.33;ReadPosRankSum=1.742;SB=-1761.05;TI=NM_003906;GI=MCM3AP;FC=Missense_S102L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:104,120:225:99:3254,0,2731:56:99:0.536 chr21 47766650 rs2839217 G A 118.21 PASS BaseQRankSum=-0.455;DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=-0.805;QD=5.14;ReadPosRankSum=-0.805;SB=-30.98;TI=NM_006031;GI=PCNT;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,6:23:99:148,0,500:57:99:0.261 chr21 47773103 rs2249057 C A 1295.48 PASS BaseQRankSum=0.002;DP=138;Dels=0.00;FS=1.371;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=-0.657;QD=9.39;ReadPosRankSum=-0.289;SB=-837.61;TI=NM_006031;GI=PCNT;FC=Synonymous_S514S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,62:138:99:1325,0,1885:55:99:0.449 chr21 47777063 rs2839223 G A 3094.28 PASS DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;QD=28.39;SB=-1955.12;TI=NM_006031;GI=PCNT;FC=Missense_G704E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:109:99:3127,226,0:57:99:1.000 chr21 47783796 rs8131546 T C 280.55 LowGQ;SB;LowDP DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=35.07;SB=-0.01;TI=NM_006031;GI=PCNT;FC=Synonymous_A852A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,8:8:24.08:314,24,0:60:24:1.000 chr21 47786494 rs2839226 C T 840.24 PASS DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=57;MQ0=0;QD=32.32;SB=-121.30;TI=NM_006031;GI=PCNT;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,26:26:66.21:873,66,0:57:66:1.000 chr21 47786817 rs2839228 C G 5775.89 PASS DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4702;MQ=55;MQ0=0;QD=32.63;SB=-3071.90;TI=NM_006031;GI=PCNT;FC=Synonymous_L976L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,177:177:99:5776,424,0:55:99:1.000 chr21 47787002 rs6518289 T C 3233.06 PASS DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4089;MQ=57;MQ0=0;QD=33.33;SB=-792.55;TI=NM_006031;GI=PCNT;FC=Missense_V1038A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,97:97:99:3264,244,0:57:99:1.000 chr21 47811272 rs3737438 C T 654.13 PASS BaseQRankSum=2.670;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7987;MQ=58;MQ0=0;MQRankSum=1.019;QD=13.08;ReadPosRankSum=0.651;SB=-175.51;TI=NM_006031;GI=PCNT;FC=Synonymous_D1399D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,24:50:99:684,0,735:58:99:0.480 chr21 47850484 rs2070426 G C 1252.58 PASS BaseQRankSum=1.587;DP=107;Dels=0.00;FS=6.129;HRun=0;HaplotypeScore=2.8922;MQ=54;MQ0=0;MQRankSum=1.039;QD=11.71;ReadPosRankSum=1.806;SB=-610.82;TI=NM_006031;GI=PCNT;FC=Missense_Q2659H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,51:107:99:1283,0,1319:54:99:0.477 chr21 47851753 rs2073376 A G 3365.77 PASS BaseQRankSum=1.802;DP=324;Dels=0.00;FS=3.025;HRun=1;HaplotypeScore=19.7922;MQ=54;MQ0=0;MQRankSum=0.957;QD=10.39;ReadPosRankSum=-2.006;SB=-2092.27;TI=NM_006031;GI=PCNT;FC=Missense_Q2792R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:173,151:324:99:3366,0,4437:54:99:0.466 chr21 47863757 rs2073380 A C 453.74 PASS BaseQRankSum=0.252;DP=73;Dels=0.00;FS=5.213;HRun=0;HaplotypeScore=6.4385;MQ=51;MQ0=0;MQRankSum=1.168;QD=6.22;ReadPosRankSum=-2.014;SB=-249.22;TI=NM_006031;GI=PCNT;FC=Missense_R3245S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,24:73:99:484,0,1248:51:99:0.329 chr21 47910523 rs7279002 A G 919.82 PASS BaseQRankSum=0.397;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7597;MQ=56;MQ0=0;MQRankSum=-0.149;QD=13.53;ReadPosRankSum=-0.496;SB=-634.94;TI=NM_206891,NM_206890,NM_001146115,NM_206889,NM_001146114,NM_015151,NM_001146116;GI=DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A;FC=Synonymous_P58P,Synonymous_P58P,Synonymous_P58P,Synonymous_P58P,Silent,Synonymous_P58P,Synonymous_P58P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,39:68:99:950,0,702:56:99:0.574 chr21 47961711 rs2070435 G A 1473.16 PASS BaseQRankSum=1.256;DP=111;Dels=0.00;FS=0.719;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.731;QD=13.27;ReadPosRankSum=2.289;SB=-952.88;TI=NM_206891,NM_206890,NM_001146115,NM_206889,NM_001146114,NM_015151,NM_001146116;GI=DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A,DIP2A;FC=Synonymous_L693L,Synonymous_L693L,Synonymous_L650L,Synonymous_L693L,Synonymous_L629L,Synonymous_L693L,Synonymous_L689L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,64:111:99:1503,0,1075:53:99:0.577 chr21 47970581 rs2255397 G A 3010.90 PASS BaseQRankSum=2.140;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.9887;MQ=54;MQ0=0;MQRankSum=1.562;QD=12.81;ReadPosRankSum=-0.284;SB=-2004.84;TI=NM_001146114,NM_015151,NM_001146116;GI=DIP2A,DIP2A,DIP2A;FC=Synonymous_T857T,Synonymous_T921T,Synonymous_T917T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:107,128:235:99:3041,0,2556:54:99:0.545 chr21 47971539 rs2255526 G A 622.19 PASS DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.28;SB=-310.76;TI=NM_001146114,NM_015151,NM_001146116;GI=DIP2A,DIP2A,DIP2A;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,22:22:48.15:655,48,0:57:48:1.000 chr21 47974582 rs1107065 A G 6105.71 PASS BaseQRankSum=1.525;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.9591;MQ=54;MQ0=0;MQRankSum=1.698;QD=30.38;ReadPosRankSum=1.715;SB=-2618.12;TI=NM_001146114,NM_015151,NM_001146116;GI=DIP2A,DIP2A,DIP2A;FC=Synonymous_T1019T,Synonymous_T1083T,Synonymous_T1079T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,200:201:99:6106,422,0:54:99:0.995 chr21 48022230 rs1051169 C G 3842.61 PASS DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=26.50;SB=-2764.81;TI=NM_006272;GI=S100B;FC=Synonymous_L33L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,145:145:99:3843,274,0:54:99:1.000 chr22 17565974 rs917865 G C 1000.86 PASS DP=34;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.44;SB=-384.06;TI=NM_014339;GI=IL17RA;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:78.24:1034,78,0:55:78:1.000 chr22 17586471 rs2241046 C T 4959.37 PASS DP=180;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.3576;MQ=54;MQ0=0;QD=27.55;SB=-3345.70;TI=NM_014339;GI=IL17RA;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,180:180:99:4959,358,0:54:99:1.000 chr22 17589209 rs879577 C T 223.73 SB;LowDP BaseQRankSum=0.844;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;MQRankSum=-1.200;QD=12.43;ReadPosRankSum=-0.222;SB=-0.01;TI=NM_014339;GI=IL17RA;FC=Missense_A367V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,8:18:99:254,0,330:56:99:0.444 chr22 17589246 rs879576 G A 321.79 SB BaseQRankSum=-1.200;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=0.769;QD=13.99;ReadPosRankSum=1.446;SB=-0.01;TI=NM_014339;GI=IL17RA;FC=Synonymous_K379K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:12,11:23:99:352,0,389:57:99:0.478 chr22 17590404 rs41482444 G A 2202.69 PASS BaseQRankSum=2.343;DP=197;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3265;MQ=53;MQ0=0;MQRankSum=0.142;QD=11.18;ReadPosRankSum=-0.198;SB=-1531.92;TI=NM_014339;GI=IL17RA;FC=Synonymous_Q765Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,94:197:99:2233,0,2441:53:99:0.480 chr22 18900750 rs372055 G A 3752.46 PASS BaseQRankSum=1.723;DP=335;Dels=0.00;FS=1.817;HRun=1;HaplotypeScore=18.6182;MQ=54;MQ0=0;MQRankSum=3.267;QD=11.20;ReadPosRankSum=0.646;SB=-2404.85;TI=NM_001195226,NM_016335;GI=PRODH,PRODH;FC=Synonymous_L473L,Synonymous_L581L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:171,163:335:99:3752,0,3967:54:99:0.488 chr22 18901004 rs450046 C T 3667.55 PASS DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=53;MQ0=0;QD=29.82;SB=-1813.53;TI=NM_001195226,NM_016335;GI=PRODH,PRODH;FC=Missense_R413Q,Missense_R521Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,123:123:99:3668,268,0:53:99:1.000 chr22 18904414 rs455072;rs74434867 A G 1790.46 PASS DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45;MQ0=10;QD=22.38;SB=-1072.38;TI=NM_001195226,NM_016335;GI=PRODH,PRODH;FC=Synonymous_F397F,Synonymous_F505F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:1823,129,0:45:99:1.000 chr22 18905978 rs16983466 G A 481.12 PASS BaseQRankSum=1.286;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59;MQ0=0;MQRankSum=0.408;QD=10.02;ReadPosRankSum=0.324;SB=-226.89;TI=NM_001195226,NM_016335;GI=PRODH,PRODH;FC=Synonymous_D318D,Synonymous_D426D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,20:48:99:511,0,749:59:99:0.417 chr22 18908875 rs1808320 A G 1671.43 PASS DP=66;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=50;MQ0=1;QD=25.32;SB=-1100.89;TI=NM_001195226,NM_016335;GI=PRODH,PRODH;FC=Synonymous_L223L,Synonymous_L331L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,66:66:99:1704,120,0:50:99:1.000 chr22 18910450 . CA C 1955.84 PASS BaseQRankSum=-2.296;DP=101;FS=2.749;HRun=3;HaplotypeScore=81.7722;MQ=53;MQ0=0;MQRankSum=0.216;QD=19.36;ReadPosRankSum=-0.927;SB=-810.67;TI=NM_001195226,NM_016335;GI=PRODH,PRODH;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,54:101:99:1995,0,1230:53:99:0.535 chr22 18912678 rs4819756 A G 1795.18 PASS BaseQRankSum=1.525;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4977;MQ=57;MQ0=0;MQRankSum=1.629;QD=26.40;ReadPosRankSum=-0.957;SB=-959.83;TI=NM_001195226,NM_016335;GI=PRODH,PRODH;FC=Missense_W77R,Missense_W185R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,66:68:99:1828,104,0:57:99:0.985 chr22 18923745 rs2008720 G T 1015.60 PASS BaseQRankSum=1.155;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5870;MQ=52;MQ0=0;MQRankSum=1.238;QD=24.18;ReadPosRankSum=1.568;SB=-620.87;TI=NM_001195226,NM_016335;GI=PRODH,PRODH;FC=Silent,Missense_P19Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,41:42:54.62:1049,55,0:52:55:0.976 chr22 18978304 rs9604914 G A 2532.26 PASS BaseQRankSum=0.590;DP=213;Dels=0.00;FS=1.721;HRun=0;HaplotypeScore=12.0185;MQ=54;MQ0=0;MQRankSum=-0.276;QD=11.89;ReadPosRankSum=0.281;SB=-1621.91;TI=NR_002733;GI=DGCR5;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:99,113:213:99:2562,0,2363:54:99:0.533 chr22 18979405 rs1210635 A C 2019.99 PASS BaseQRankSum=1.270;DP=169;Dels=0.00;FS=2.921;HRun=4;HaplotypeScore=6.2991;MQ=56;MQ0=0;MQRankSum=1.138;QD=11.95;ReadPosRankSum=0.291;SB=-756.07;TI=NR_002733;GI=DGCR5;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,80:169:99:2050,0,2349:56:99:0.473 chr22 19002009 rs56157180 G T 793.71 PASS BaseQRankSum=-0.841;DP=58;Dels=0.00;FS=2.389;HRun=0;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=0.937;QD=13.68;ReadPosRankSum=0.296;SB=-519.64 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,36:58:99:824,0,552:58:99:0.621 chr22 19018402 rs11089248 A T 1234.72 PASS BaseQRankSum=0.059;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7867;MQ=50;MQ0=1;MQRankSum=1.374;QD=11.76;ReadPosRankSum=-0.807;SB=-877.32 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,56:105:99:1265,0,1176:50:99:0.533 chr22 19018500 rs2240103 G C 1691.05 PASS BaseQRankSum=1.013;DP=55;Dels=0.00;FS=6.990;HRun=2;HaplotypeScore=0.0000;MQ=46;MQ0=2;MQRankSum=0.686;QD=30.75;ReadPosRankSum=-1.602;SB=-247.23 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,54:55:99:1724,100,0:46:99:0.982 chr22 19026613 rs2072123 A G 5001.24 PASS BaseQRankSum=-1.721;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2538;MQ=53;MQ0=0;MQRankSum=-0.670;QD=27.78;ReadPosRankSum=-0.503;SB=-2719.72;TI=NM_001173533,NM_001184781,NM_001173534,NM_005137,NR_033674;GI=DGCR2,DGCR2,DGCR2,DGCR2,DGCR2;FC=Missense_V432A,Missense_V470A,Missense_V429A,Missense_V473A,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,177:180:99:5001,291,0:53:99:0.983 chr22 19184095 rs1061325 T C 1249.25 PASS DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4941;MQ=59;MQ0=0;QD=29.74;SB=-464.12;TI=NM_007098,NM_001835;GI=CLTCL1,CLTCL1;FC=Missense_M1316V,Missense_M1316V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:96.29:1282,96,0:59:96:1.000 chr22 19189003 rs78649162 A AC 6513.40 PASS DP=154;FS=0.000;HRun=1;HaplotypeScore=81.1024;MQ=60;MQ0=0;QD=42.29;SB=-2963.93;TI=NM_007098,NM_001835;GI=CLTCL1,CLTCL1;FC=Splicing,Splicing;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,154:154:99:6513,464,0:60:99:1.000 chr22 19197896 rs698423 T C 6710.42 PASS BaseQRankSum=1.717;DP=237;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5191;MQ=54;MQ0=0;MQRankSum=-0.153;QD=28.31;ReadPosRankSum=1.498;SB=-4437.24;TI=NM_007098,NM_001835;GI=CLTCL1,CLTCL1;FC=Synonymous_A1063A,Synonymous_A1063A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,236:237:99:6710,482,0:54:99:0.996 chr22 19213835 rs45590542 C T 2427.08 PASS BaseQRankSum=2.846;DP=194;Dels=0.00;FS=0.543;HRun=2;HaplotypeScore=8.1421;MQ=54;MQ0=0;MQRankSum=3.967;QD=12.51;ReadPosRankSum=1.785;SB=-1381.25;TI=NM_007098,NM_001835;GI=CLTCL1,CLTCL1;FC=Synonymous_E618E,Synonymous_E618E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,100:194:99:2457,0,2257:54:99:0.515 chr22 19751829 rs2301558 C T 1104.86 PASS BaseQRankSum=-0.310;DP=101;Dels=0.00;FS=1.683;HRun=1;HaplotypeScore=15.7707;MQ=56;MQ0=0;MQRankSum=-0.317;QD=10.94;ReadPosRankSum=-0.767;SB=-558.16;TI=NM_080647,NM_080646,NM_005992;GI=TBX1,TBX1,TBX1;FC=Synonymous_L222L,Synonymous_L222L,Synonymous_L222L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,46:101:99:1135,0,1445:56:99:0.455 chr22 19753961 rs13054377 A G 188.08 LowDP BaseQRankSum=-0.368;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.523;QD=11.76;ReadPosRankSum=0.893;SB=-40.65;TI=NM_080647,NM_080646,NM_005992;GI=TBX1,TBX1,TBX1;FC=Synonymous_A353A,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,8:16:99:218,0,232:57:99:0.500 chr22 19776382 rs35995660 G A 2031.81 PASS BaseQRankSum=2.967;DP=193;Dels=0.00;FS=1.796;HRun=0;HaplotypeScore=8.8783;MQ=59;MQ0=0;MQRankSum=0.567;QD=10.53;ReadPosRankSum=-0.915;SB=-1357.53;TI=NM_053004;GI=GNB1L;FC=Synonymous_R278R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:108,84:193:99:2062,0,2768:59:99:0.438 chr22 19867771 rs1139795 C T 3490.36 PASS BaseQRankSum=1.388;DP=131;Dels=0.00;FS=3.912;HRun=0;HaplotypeScore=1.8857;MQ=53;MQ0=0;MQRankSum=-1.283;QD=26.64;ReadPosRankSum=-1.045;SB=-1944.04;TI=NM_006440;GI=TXNRD2;FC=Synonymous_P402P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,130:131:99:3490,224,0:53:99:0.992 chr22 19868218 rs1139793 A G 2378.60 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3882;MQ=54;MQ0=0;QD=26.73;SB=-1562.71;TI=NM_006440;GI=TXNRD2;FC=Missense_I370T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2412,172,0:54:99:1.000 chr22 19882984 rs5992495 T G 884.86 PASS BaseQRankSum=1.938;DP=73;Dels=0.00;FS=3.404;HRun=1;HaplotypeScore=6.6147;MQ=55;MQ0=0;MQRankSum=1.507;QD=12.12;ReadPosRankSum=1.187;SB=-313.93;TI=NM_006440;GI=TXNRD2;FC=Missense_S299R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,35:73:99:915,0,804:55:99:0.479 chr22 19906511 rs11541479 G A 2263.27 PASS BaseQRankSum=2.253;DP=172;Dels=0.00;FS=1.229;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=-0.369;QD=13.16;ReadPosRankSum=-0.109;SB=-1182.26;TI=NM_006440;GI=TXNRD2;FC=Synonymous_L82L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,88:172:99:2293,0,2210:55:99:0.512 chr22 19907099 rs5748469 C A 985.13 PASS BaseQRankSum=0.213;DP=88;Dels=0.00;FS=1.743;HRun=0;HaplotypeScore=3.5489;MQ=52;MQ0=0;MQRankSum=1.974;QD=11.19;ReadPosRankSum=0.472;SB=-619.32;TI=NM_006440;GI=TXNRD2;FC=Missense_A66S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,44:88:99:1015,0,998:52:99:0.500 chr22 19907118 rs5748470 G A 2300.42 PASS DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=24.74;SB=-1608.65;TI=NM_006440;GI=TXNRD2;FC=Synonymous_A59A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:93:99:2333,169,0:52:99:1.000 chr22 19951207 rs4818 C G 1272.81 PASS BaseQRankSum=2.725;DP=129;Dels=0.00;FS=1.436;HRun=0;HaplotypeScore=3.5215;MQ=51;MQ0=0;MQRankSum=1.952;QD=9.87;ReadPosRankSum=0.557;SB=-767.39;TI=NM_000754,NM_001135161,NM_001135162,NM_007310;GI=COMT,COMT,COMT,COMT;FC=Synonymous_L136L,Synonymous_L136L,Synonymous_L136L,Synonymous_L86L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,57:129:99:1303,0,1784:51:99:0.442 chr22 19956262 rs362204 G GC 970.81 PASS BaseQRankSum=3.874;DP=64;FS=0.000;HRun=7;HaplotypeScore=223.5171;MQ=58;MQ0=0;MQRankSum=1.543;QD=15.17;ReadPosRankSum=0.984;SB=-408.03;TI=NM_000754,NM_001135161,NM_001135162,NM_007310;GI=COMT,COMT,COMT,COMT;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,37:64:99:1010,0,677:58:99:0.578 chr22 19958829 rs5993890 G A 1361.45 PASS BaseQRankSum=-0.589;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4486;MQ=57;MQ0=0;MQRankSum=2.074;QD=12.84;ReadPosRankSum=-0.730;SB=-613.72;TI=NM_001670;GI=ARVCF;FC=Synonymous_P937P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,57:106:99:1391,0,1192:57:99:0.543 chr22 19959473 rs165815 C T 1566.47 PASS BaseQRankSum=-0.442;DP=146;Dels=0.00;FS=2.116;HRun=0;HaplotypeScore=10.8416;MQ=51;MQ0=0;MQRankSum=0.783;QD=10.73;ReadPosRankSum=0.626;SB=-1116.94;TI=NM_001670;GI=ARVCF;FC=Missense_R906Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,71:146:99:1596,0,1728:51:99:0.486 chr22 19968856 . C T 550.82 PASS BaseQRankSum=0.621;DP=54;Dels=0.00;FS=3.949;HRun=0;HaplotypeScore=4.4430;MQ=57;MQ0=0;MQRankSum=0.444;QD=10.20;ReadPosRankSum=-0.940;SB=-238.31;TI=NM_001670;GI=ARVCF;FC=Synonymous_P258P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,21:54:99:581,0,853:57:99:0.389 chr22 19968971 rs2073748 G A 877.74 PASS BaseQRankSum=-1.146;DP=37;Dels=0.00;FS=1.639;HRun=0;HaplotypeScore=0.9996;MQ=59;MQ0=0;MQRankSum=-0.051;QD=23.72;ReadPosRankSum=-0.017;SB=-248.09;TI=NM_001670;GI=ARVCF;FC=Missense_P220L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:10,27:37:99:908,0,258:59:99:0.730 chr22 19969075 rs2073747 A G 1843.82 PASS BaseQRankSum=1.119;DP=114;Dels=0.00;FS=0.734;HRun=0;HaplotypeScore=5.5427;MQ=56;MQ0=0;MQRankSum=1.252;QD=16.17;ReadPosRankSum=0.568;SB=-993.79;TI=NM_001670;GI=ARVCF;FC=Synonymous_S185S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,69:114:99:1874,0,995:56:99:0.605 chr22 19969106 rs2240717 A G 2627.33 PASS BaseQRankSum=-1.453;DP=170;Dels=0.00;FS=1.243;HRun=0;HaplotypeScore=6.0250;MQ=55;MQ0=0;MQRankSum=2.015;QD=15.45;ReadPosRankSum=-1.789;SB=-1653.78;TI=NM_001670;GI=ARVCF;FC=Missense_V175A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,104:170:99:2657,0,1478:55:99:0.615 chr22 20779662 . C A 5.92 LowGQX;SB;LowDP BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46;MQ0=0;MQRankSum=0.736;QD=1.97;ReadPosRankSum=0.736;SB=-0.01;TI=NM_153334,NM_182895;GI=SCARF2,SCARF2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,1:3:34.63:35,0,39:46:6:0.333 chr22 20779946 rs759612 C G 11.01 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=11.01;SB=-0.01;TI=NM_153334,NM_182895;GI=SCARF2,SCARF2;FC=Missense_V778L,Missense_V773L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:41,3,0:60:3:1.000 chr22 20779947 rs759611 G C 11.01 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=11.01;SB=-0.01;TI=NM_153334,NM_182895;GI=SCARF2,SCARF2;FC=Missense_D777E,Missense_D772E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:41,3,0:60:3:1.000 chr22 20780031 rs2329378 G C 95.30 LowGQ;LowDP BaseQRankSum=0.731;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9950;MQ=31;MQ0=0;MQRankSum=0.731;QD=19.06;ReadPosRankSum=0.731;SB=-40.03;TI=NM_153334,NM_182895;GI=SCARF2,SCARF2;FC=Synonymous_R749R,Synonymous_R744R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,4:5:18.39:125,0,18:31:18:0.800 chr22 20780091 rs77189880 C G 788.32 PASS DP=25;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.0000;MQ=48;MQ0=0;QD=31.53;SB=-267.54;TI=NM_153334,NM_182895;GI=SCARF2,SCARF2;FC=Synonymous_P729P,Synonymous_P724P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,25:25:63.20:821,63,0:48:63:1.000 chr22 20780097 rs759609 G C 815.93 PASS DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49;MQ0=0;QD=31.38;SB=-265.47;TI=NM_153334,NM_182895;GI=SCARF2,SCARF2;FC=Synonymous_R727R,Synonymous_R722R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,26:26:66.20:849,66,0:49:66:1.000 chr22 20784050 rs2241230 T A 1935.05 PASS BaseQRankSum=0.835;DP=148;Dels=0.00;FS=2.247;HRun=0;HaplotypeScore=4.4857;MQ=55;MQ0=0;MQRankSum=-1.160;QD=13.07;ReadPosRankSum=-0.680;SB=-705.66;TI=NM_153334,NM_182895;GI=SCARF2,SCARF2;FC=Missense_T425S,Missense_T425S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,74:148:99:1965,0,1790:55:99:0.503 chr22 21141300 rs4675 T C 1390.83 PASS BaseQRankSum=0.352;DP=112;Dels=0.00;FS=3.532;HRun=1;HaplotypeScore=8.0426;MQ=54;MQ0=0;MQRankSum=-1.361;QD=12.42;ReadPosRankSum=-0.463;SB=-936.67;TI=NM_058004,NM_000185;GI=PI4KA,SERPIND1;FC=Silent,Synonymous_H482H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,63:112:99:1421,0,1184:54:99:0.563 chr22 21213416 rs1061064 A G 1355.56 PASS BaseQRankSum=-1.147;DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2738;MQ=54;MQ0=0;MQRankSum=1.063;QD=13.69;ReadPosRankSum=-2.768;SB=-509.32;TI=NM_004782;GI=SNAP29;FC=Synonymous_K6K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,53:99:99:1386,0,1199:54:99:0.535 chr22 22599215 rs11089977 A G 945.73 PASS BaseQRankSum=-0.128;DP=82;Dels=0.00;FS=0.876;HRun=0;HaplotypeScore=3.7695;MQ=51;MQ0=0;MQRankSum=0.525;QD=11.53;ReadPosRankSum=-1.349;SB=-437.20;TI=NM_007128;GI=VPREB1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,38:82:99:976,0,1036:51:99:0.469 chr22 22599216 rs11089978 T C 1059.72 PASS BaseQRankSum=0.714;DP=95;Dels=0.00;FS=2.924;HRun=0;HaplotypeScore=4.6362;MQ=51;MQ0=0;MQRankSum=0.819;QD=11.15;ReadPosRankSum=-0.893;SB=-514.30;TI=NM_007128;GI=VPREB1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,43:95:99:1090,0,1285:51:99:0.453 chr22 22599674 rs5995719 C T 815.16 PASS BaseQRankSum=1.221;DP=72;Dels=0.00;FS=3.865;HRun=1;HaplotypeScore=2.6274;MQ=57;MQ0=0;MQRankSum=-0.023;QD=11.32;ReadPosRankSum=0.011;SB=-190.80;TI=NM_007128;GI=VPREB1;FC=Synonymous_S121S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,33:72:99:845,0,1140:57:99:0.458 chr22 22599705 rs5995720 G A 776.28 PASS BaseQRankSum=0.509;DP=66;Dels=0.00;FS=2.620;HRun=1;HaplotypeScore=5.4377;MQ=56;MQ0=0;MQRankSum=-0.032;QD=11.76;ReadPosRankSum=-0.354;SB=-158.54;TI=NM_007128;GI=VPREB1;FC=Missense_E132K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,30:66:99:806,0,1032:56:99:0.455 chr22 23627369 rs140504 A G 5629.35 PASS DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4638;MQ=55;MQ0=0;QD=29.47;SB=-2613.56;TI=NM_004327,NM_021574;GI=BCR,BCR;FC=Missense_N796S,Missense_N796S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,191:191:99:5629,409,0:55:99:1.000 chr22 23631801 rs2227939 T C 2524.46 PASS DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=59;MQ0=0;QD=30.42;SB=-1357.62;TI=NM_004327,NM_021574;GI=BCR,BCR;FC=Synonymous_N900N,Synonymous_N900N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2557,187,0:59:99:1.000 chr22 23631813 . G GC 2289.76 PASS DP=77;FS=0.000;HRun=7;HaplotypeScore=603.4108;MQ=59;MQ0=0;QD=29.74;SB=-919.29;TI=NM_004327,NM_021574;GI=BCR,BCR;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,71:77:99:2332,219,0:59:99:0.934 chr22 23637200 rs2239666 T C 904.54 PASS BaseQRankSum=0.940;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7320;MQ=58;MQ0=0;MQRankSum=2.032;QD=12.92;ReadPosRankSum=-0.646;SB=-347.00;TI=NM_004327,NM_021574;GI=BCR,BCR;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:35,35:70:99:935,0,811:58:99:0.500 chr22 23915529 rs8138122 C T 2255.30 PASS BaseQRankSum=0.123;DP=79;Dels=0.00;FS=5.105;HRun=0;HaplotypeScore=0.9996;MQ=55;MQ0=0;MQRankSum=3.343;QD=28.55;ReadPosRankSum=2.448;SB=-746.78;TI=NM_020070,NM_152855;GI=IGLL1,IGLL1;FC=Missense_R189H,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:4,75:79:91.75:2288,92,0:55:92:0.949 chr22 24237218 . C T 1843.74 PASS BaseQRankSum=-0.803;DP=139;Dels=0.00;FS=0.647;HRun=0;HaplotypeScore=14.6704;MQ=56;MQ0=0;MQRankSum=1.338;QD=13.26;ReadPosRankSum=-0.439;SB=-1142.10;TI=NM_002415;GI=MIF;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,76:139:99:1874,0,1546:56:99:0.551 chr22 24300102 rs1803690 A G 48.00 LowGQX;LowGQ;SB DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=3;MQ0=160;QD=0.29;SB=-0.01;TI=NM_001080843,NM_000854;GI=GSTT2B,GSTT2;FC=Synonymous_Y181Y,Synonymous_Y181Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,164:165:9:80,9,0:3:9:0.994 chr22 24300634 rs2227965;rs56104230 G T 446.16 SB DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=8;MQ0=159;QD=2.26;SB=-0.01;TI=NM_001080843,NM_000854;GI=GSTT2B,GSTT2;FC=Synonymous_P121P,Synonymous_P121P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,197:197:54.02:479,54,0:8:54:1.000 chr22 24302486 rs364069 A G 154.22 LowGQ DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=16;MQ0=11;QD=7.71;SB=-52.98;TI=NM_001080843,NM_000854;GI=GSTT2B,GSTT2;FC=Synonymous_T65T,Synonymous_T65T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,20:20:18.04:187,18,0:16:18:1.000 chr22 24325095 rs140195;rs74487784 A G 61.33 LowGQX;LowGQ DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=5;MQ0=141;QD=0.42;SB=-39.22;TI=NM_000854;GI=GSTT2;FC=Missense_K129E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,147:147:9.01:93,9,0:5:9:1.000 chr22 24459438 rs77495199 T C 4416.99 PASS DP=159;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.8858;MQ=55;MQ0=0;QD=27.78;SB=-2786.98;TI=NM_012295,NM_001199281;GI=CABIN1,CABIN1;FC=Synonymous_C571C,Synonymous_C571C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,159:159:99:4417,316,0:55:99:1.000 chr22 24468346 rs34626155 C G 919.29 PASS BaseQRankSum=1.437;DP=95;Dels=0.00;FS=1.734;HRun=1;HaplotypeScore=8.5749;MQ=54;MQ0=0;MQRankSum=0.780;QD=9.68;ReadPosRankSum=-0.735;SB=-608.59;TI=NM_012295,NM_001199281;GI=CABIN1,CABIN1;FC=Missense_P840A,Missense_P840A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,44:95:99:949,0,1196:54:99:0.463 chr22 24622648 rs2275984 T C 1243.03 PASS BaseQRankSum=0.253;DP=118;Dels=0.00;FS=0.765;HRun=4;HaplotypeScore=5.3371;MQ=57;MQ0=0;MQRankSum=1.722;QD=10.53;ReadPosRankSum=0.342;SB=-399.29;TI=NM_001099781,NM_004121,NM_001099782;GI=GGT5,GGT5,GGT5;FC=Missense_K330R,Missense_K330R,Missense_K298R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,44:118:99:1273,0,2015:57:99:0.373 chr22 24627458 . G A 1381.47 PASS BaseQRankSum=-0.487;DP=97;Dels=0.00;FS=3.396;HRun=0;HaplotypeScore=7.2004;MQ=57;MQ0=0;MQRankSum=0.018;QD=14.24;ReadPosRankSum=0.466;SB=-407.47;TI=NM_001099781,NM_004121,NM_001099782;GI=GGT5,GGT5,GGT5;FC=Synonymous_P265P,Synonymous_P265P,Synonymous_P233P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,50:97:99:1411,0,1355:57:99:0.515 chr22 24628171 . A G 20.84 SB BaseQRankSum=-5.045;DP=52;Dels=0.02;FS=44.531;HRun=1;HaplotypeScore=66.5140;MQ=40;MQ0=0;MQRankSum=-3.079;QD=0.40;ReadPosRankSum=-2.236;SB=-0.01;TI=NM_001099781,NM_004121,NM_001099782;GI=GGT5,GGT5,GGT5;FC=Missense_L201P,Missense_L201P,Missense_L169P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,14:51:50.80:51,0,1108:40:21:0.280 chr22 24628177 . C G 10.51 SB BaseQRankSum=-3.551;DP=52;Dels=0.00;FS=27.195;HRun=2;HaplotypeScore=65.6058;MQ=40;MQ0=0;MQRankSum=-3.660;QD=0.20;ReadPosRankSum=-0.228;SB=-0.01;TI=NM_001099781,NM_004121,NM_001099782;GI=GGT5,GGT5,GGT5;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,12:52:40.10:40,0,1133:40:11:0.231 chr22 24628178 . T G 166.85 SB BaseQRankSum=-4.415;DP=51;Dels=0.02;FS=64.964;HRun=6;HaplotypeScore=68.3167;MQ=40;MQ0=0;MQRankSum=-3.569;QD=3.27;ReadPosRankSum=-1.421;SB=-0.01;TI=NM_001099781,NM_004121,NM_001099782;GI=GGT5,GGT5,GGT5;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,15:50:99:197,0,1004:40:99:0.306 chr22 24628185 . T G 429.32 SB BaseQRankSum=-2.684;DP=58;Dels=0.00;FS=88.888;HRun=6;HaplotypeScore=20.6803;MQ=36;MQ0=0;MQRankSum=-2.491;QD=7.40;ReadPosRankSum=-2.299;SB=0.01;TI=NM_001099781,NM_004121,NM_001099782;GI=GGT5,GGT5,GGT5;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,26:58:99:459,0,786:36:99:0.456 chr22 24640666 rs78246933 T C 455.95 PASS BaseQRankSum=-0.551;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.206;QD=13.41;ReadPosRankSum=1.481;SB=-200.45;TI=NM_001099781,NM_004121,NM_001099782;GI=GGT5,GGT5,GGT5;FC=Missense_S10G,Missense_S10G,Missense_S10G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,17:34:99:486,0,421:53:99:0.500 chr22 24717850 rs204710 A G 10851.96 PASS DP=354;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.7224;MQ=55;MQ0=0;QD=30.66;SB=-6183.08;TI=NM_001145468,NM_015330;GI=SPECC1L,SPECC1L;FC=Missense_D301G,Missense_D301G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,354:354:99:10852,792,0:55:99:1.000 chr22 24761467 rs204718 G A 2977.50 PASS DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=27.57;SB=-2088.71;TI=NM_001145468,NM_015330;GI=SPECC1L,SPECC1L;FC=Missense_V951M,Missense_V951M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,108:108:99:3011,214,0:52:99:1.000 chr22 24836657 rs78720419 G A 3111.37 PASS BaseQRankSum=3.107;DP=239;Dels=0.00;FS=0.481;HRun=0;HaplotypeScore=17.0974;MQ=58;MQ0=0;MQRankSum=0.482;QD=13.02;ReadPosRankSum=0.375;SB=-1646.79;TI=NM_000675,NR_028484,NR_028483;GI=ADORA2A,C22orf45,C22orf45;FC=Missense_G147S,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:119,120:239:99:3141,0,3236:58:99:0.502 chr22 24837301 rs5751876 T C 1449.83 PASS BaseQRankSum=-0.304;DP=116;Dels=0.00;FS=1.486;HRun=0;HaplotypeScore=8.9287;MQ=59;MQ0=0;MQRankSum=0.580;QD=12.50;ReadPosRankSum=0.944;SB=-864.13;TI=NM_000675,NR_028484,NR_028483;GI=ADORA2A,C22orf45,C22orf45;FC=Synonymous_Y361Y,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,57:116:99:1480,0,1623:59:99:0.491 chr22 24916445 . C T 523.46 PASS BaseQRankSum=-0.807;DP=41;Dels=0.00;FS=7.521;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.675;QD=12.77;ReadPosRankSum=-0.966;SB=-352.05;TI=NM_016327;GI=UPB1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,24:41:99:553,0,450:54:99:0.585 chr22 25115799 rs61740100 G A 969.07 PASS BaseQRankSum=1.239;DP=113;Dels=0.00;FS=2.504;HRun=0;HaplotypeScore=1.7882;MQ=49;MQ0=0;MQRankSum=-0.452;QD=8.58;ReadPosRankSum=0.943;SB=-518.44;TI=NM_001008496;GI=PIWIL3;FC=Synonymous_N816N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,43:113:99:999,0,1627:49:99:0.381 chr22 25145453 rs1892723 C T 4585.37 PASS DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=56;MQ0=0;QD=29.58;SB=-2735.45;TI=NM_001008496;GI=PIWIL3;FC=Missense_V418M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4585,331,0:56:99:1.000 chr22 25145471 rs1892722 A G 1921.29 PASS BaseQRankSum=0.111;DP=136;Dels=0.00;FS=1.391;HRun=0;HaplotypeScore=3.7878;MQ=57;MQ0=0;MQRankSum=1.516;QD=14.13;ReadPosRankSum=-0.590;SB=-1212.03;TI=NM_001008496;GI=PIWIL3;FC=Missense_C412R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,81:136:99:1951,0,1461:57:99:0.596 chr22 25625554 rs4049505;rs55700037 G A 4413.45 PASS DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=49;MQ0=0;QD=35.03;SB=-758.61;TI=NM_000496;GI=CRYBB2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,126:126:99:4413,328,0:49:99:1.000 chr22 25627604 rs8140949 G A 5912.84 PASS BaseQRankSum=1.052;DP=219;Dels=0.00;FS=3.396;HRun=0;HaplotypeScore=9.1736;MQ=52;MQ0=0;MQRankSum=1.590;QD=27.00;ReadPosRankSum=0.799;SB=-3716.66;TI=NM_000496;GI=CRYBB2;FC=Synonymous_G161G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,218:219:99:5913,403,0:52:99:0.995 chr22 26157068 rs61734946 C G 1822.38 PASS BaseQRankSum=1.913;DP=134;Dels=0.00;FS=3.179;HRun=0;HaplotypeScore=4.6270;MQ=51;MQ0=0;MQRankSum=2.008;QD=13.60;ReadPosRankSum=1.162;SB=-1114.59;TI=NM_032608;GI=MYO18B;FC=Missense_I3M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,79:134:99:1852,0,1223:51:99:0.590 chr22 26159289 rs133885 G A 5830.10 PASS BaseQRankSum=1.588;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3265;MQ=55;MQ0=0;MQRankSum=-1.397;QD=26.74;ReadPosRankSum=-1.269;SB=-3511.62;TI=NM_032608;GI=MYO18B;FC=Missense_G44E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,216:218:99:5830,424,0:55:99:0.995 chr22 26164079 rs133902 C T 1136.07 PASS DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=29.90;SB=-349.93;TI=NM_032608;GI=MYO18B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,38:38:87.28:1169,87,0:56:87:1.000 chr22 26164855 rs58746292 A T 233.33 PASS BaseQRankSum=0.334;DP=22;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=0.801;QD=10.61;ReadPosRankSum=0.000;SB=-125.86;TI=NM_032608;GI=MYO18B;FC=Missense_R324S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,9:22:99:263,0,404:57:99:0.409 chr22 26166900 rs3859866 G C 3692.16 PASS DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.5641;MQ=52;MQ0=0;QD=27.76;SB=-2528.15;TI=NM_032608;GI=MYO18B;FC=Missense_W547C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,133:133:99:3692,265,0:52:99:1.000 chr22 26173661 rs5761170 T C 944.16 PASS DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.61;SB=-547.38;TI=NM_032608;GI=MYO18B;FC=Missense_W661R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:72.23:977,72,0:53:72:1.000 chr22 26193982 rs738642 C G 841.98 PASS BaseQRankSum=1.636;DP=76;Dels=0.00;FS=0.869;HRun=2;HaplotypeScore=4.5405;MQ=52;MQ0=0;MQRankSum=2.689;QD=11.08;ReadPosRankSum=2.126;SB=-549.94;TI=NM_032608;GI=MYO18B;FC=Synonymous_L813L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,35:76:99:872,0,987:52:99:0.461 chr22 26194045 rs738643 T C 660.76 PASS BaseQRankSum=0.109;DP=58;Dels=0.00;FS=2.278;HRun=0;HaplotypeScore=4.3537;MQ=55;MQ0=0;MQRankSum=1.824;QD=11.39;ReadPosRankSum=1.091;SB=-295.72;TI=NM_032608;GI=MYO18B;FC=Synonymous_G834G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,27:58:99:691,0,754:55:99:0.466 chr22 26219605 rs4820658 G A 1252.04 PASS BaseQRankSum=-0.982;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5356;MQ=53;MQ0=0;MQRankSum=1.175;QD=13.46;ReadPosRankSum=0.019;SB=-690.40;TI=NM_032608;GI=MYO18B;FC=Synonymous_G885G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,50:93:99:1282,0,1016:53:99:0.538 chr22 26239850 rs5761268 C A 3824.52 PASS BaseQRankSum=2.395;DP=135;Dels=0.00;FS=4.904;HRun=1;HaplotypeScore=5.5529;MQ=56;MQ0=0;MQRankSum=1.302;QD=28.33;ReadPosRankSum=0.719;SB=-1643.37;TI=NM_032608;GI=MYO18B;FC=Missense_H1119Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,133:135:99:3825,252,0:56:99:0.985 chr22 26247456 rs5996988 G A 1733.05 PASS BaseQRankSum=-0.357;DP=140;Dels=0.00;FS=2.268;HRun=0;HaplotypeScore=3.4941;MQ=54;MQ0=0;MQRankSum=-0.390;QD=12.38;ReadPosRankSum=-1.399;SB=-844.05;TI=NM_032608;GI=MYO18B;FC=Synonymous_G1265G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,74:140:99:1763,0,1484:54:99:0.532 chr22 26343805 rs2072007 A G 1255.14 PASS BaseQRankSum=0.318;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8939;MQ=53;MQ0=0;MQRankSum=0.389;QD=25.62;ReadPosRankSum=-0.177;SB=-751.49;TI=NM_032608;GI=MYO18B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,48:49:61.67:1288,62,0:53:62:0.980 chr22 26422980 rs2236005 A G 2703.61 PASS BaseQRankSum=2.030;DP=217;Dels=0.00;FS=2.323;HRun=0;HaplotypeScore=8.8860;MQ=55;MQ0=0;MQRankSum=2.592;QD=12.46;ReadPosRankSum=-0.496;SB=-1585.11;TI=NM_032608;GI=MYO18B;FC=Missense_Q2347R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:106,111:217:99:2734,0,2778:55:99:0.512 chr22 26853905 rs1894704 C A 981.49 PASS BaseQRankSum=-0.066;DP=92;Dels=0.00;FS=4.008;HRun=0;HaplotypeScore=2.7616;MQ=56;MQ0=0;MQRankSum=0.387;QD=10.67;ReadPosRankSum=-1.566;SB=-730.41;TI=NM_152841,NM_022081;GI=HPS4,HPS4;FC=Missense_Q620H,Missense_Q625H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,46:92:99:1011,0,1052:56:99:0.500 chr22 26854441 rs1894706 G A 1159.22 PASS BaseQRankSum=1.801;DP=115;Dels=0.00;FS=0.701;HRun=0;HaplotypeScore=3.7788;MQ=53;MQ0=0;MQRankSum=1.981;QD=10.08;ReadPosRankSum=0.171;SB=-803.96;TI=NM_152841,NM_022081;GI=HPS4,HPS4;FC=Missense_H601Y,Missense_H606Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:63,52:115:99:1189,0,1450:53:99:0.452 chr22 26860685 . A G 481.97 SB BaseQRankSum=-0.843;DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9850;MQ=59;MQ0=0;MQRankSum=-0.370;QD=12.68;ReadPosRankSum=-0.044;SB=-0.01;TI=NM_152841,NM_022081;GI=HPS4,HPS4;FC=Missense_M299T,Missense_M304T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,16:38:99:512,0,772:59:99:0.421 chr22 26866723 rs13054747 C T 1201.86 PASS BaseQRankSum=-0.062;DP=134;Dels=0.00;FS=4.237;HRun=0;HaplotypeScore=4.7537;MQ=52;MQ0=0;MQRankSum=0.946;QD=8.97;ReadPosRankSum=-0.502;SB=-693.92;TI=NM_152841,NM_022081;GI=HPS4,HPS4;FC=Synonymous_S181S,Synonymous_S186S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,51:134:99:1232,0,1808:52:99:0.383 chr22 27021457 rs5761637 T C 6408.91 PASS DP=219;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3537;MQ=56;MQ0=0;QD=29.26;SB=-2954.15;TI=NM_001886;GI=CRYBA4;FC=Synonymous_F57F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,219:219:99:6409,464,0:56:99:1.000 chr22 27061791 rs5997112 G A 6538.15 PASS BaseQRankSum=1.060;DP=201;Dels=0.00;FS=3.738;HRun=0;HaplotypeScore=7.6583;MQ=56;MQ0=0;MQRankSum=0.801;QD=32.53;ReadPosRankSum=1.542;SB=-3223.67;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,200:201:99:6538,451,0:56:99:0.995 chr22 27061937 rs1061541 C T 6298.39 PASS BaseQRankSum=-0.669;DP=190;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=9.0362;MQ=57;MQ0=0;MQRankSum=-0.318;QD=33.15;ReadPosRankSum=-0.162;SB=-3301.55;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,187:190:99:6298,428,0:57:99:0.989 chr22 27062038 rs1061540 T C 6791.95 PASS BaseQRankSum=-0.242;DP=219;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3641;MQ=57;MQ0=0;MQRankSum=1.380;QD=31.01;ReadPosRankSum=1.301;SB=-3745.40;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,216:219:99:6792,433,0:57:99:0.991 chr22 27062698 . T TG 4681.09 PASS BaseQRankSum=-1.703;DP=118;FS=0.000;HRun=2;HaplotypeScore=322.3407;MQ=58;MQ0=0;MQRankSum=1.439;QD=39.67;ReadPosRankSum=-1.409;SB=-2175.36;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,115:118:99:4681,338,0:58:99:0.975 chr22 27062754 rs56005914 G T 1868.37 PASS BaseQRankSum=2.152;DP=124;Dels=0.00;FS=0.697;HRun=0;HaplotypeScore=9.3883;MQ=57;MQ0=0;MQRankSum=-1.288;QD=15.07;ReadPosRankSum=-0.757;SB=-1106.37;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,76:124:99:1898,0,1145:57:99:0.618 chr22 27064494 rs3752603 C T 1085.63 PASS BaseQRankSum=0.233;DP=72;Dels=0.00;FS=3.616;HRun=0;HaplotypeScore=2.8871;MQ=55;MQ0=0;MQRankSum=1.024;QD=15.08;ReadPosRankSum=0.430;SB=-559.36;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,45:72:99:1116,0,759:55:99:0.625 chr22 27065117 rs6005121 A G 7332.17 PASS DP=275;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.5080;MQ=56;MQ0=0;QD=26.66;SB=-5252.90;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,275:275:99:7332,524,0:56:99:1.000 chr22 27065681 rs4822767 G A 5993.53 PASS BaseQRankSum=1.680;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.6907;MQ=57;MQ0=0;MQRankSum=-0.364;QD=29.97;ReadPosRankSum=-1.057;SB=-2818.22;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,199:200:99:5994,445,0:57:99:0.995 chr22 27066019 . A T 79.26 LowVariantFreq;SB BaseQRankSum=0.312;DP=115;Dels=0.00;FS=41.813;HRun=15;HaplotypeScore=83.0364;MQ=48;MQ0=1;MQRankSum=-1.382;QD=0.69;ReadPosRankSum=-4.083;SB=-0.01;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:102,13:115:99:109,0,2692:48:79:0.113 chr22 27066019 rs35523695 A ATTTTT 1021.20 LowVariantFreq;R8 BaseQRankSum=1.664;DP=115;FS=9.820;HRun=15;HaplotypeScore=411.5264;MQ=48;MQ0=1;MQRankSum=-2.563;QD=8.88;ReadPosRankSum=1.252;SB=-460.23;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,11:114:99:1060,0,3155:48:99:0.151 chr22 27066318 rs8209 G A 2200.79 PASS BaseQRankSum=1.514;DP=179;Dels=0.00;FS=1.177;HRun=0;HaplotypeScore=22.9632;MQ=57;MQ0=0;MQRankSum=0.931;QD=12.29;ReadPosRankSum=1.843;SB=-1321.37;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:86,93:179:99:2231,0,2267:57:99:0.520 chr22 27066535 rs7985 A G 42.27 LowDP BaseQRankSum=-0.736;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=49;MQ0=0;MQRankSum=-0.736;QD=10.57;ReadPosRankSum=0.736;SB=-34.63;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,2:4:31.62:72,0,32:49:32:0.667 chr22 27066924 . G GT 35.61 R8;SB BaseQRankSum=-0.943;DP=30;FS=0.000;HRun=12;HaplotypeScore=111.4719;MQ=53;MQ0=0;MQRankSum=-0.892;QD=1.19;ReadPosRankSum=-0.637;SB=-4.21;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,6:29:74.64:75,0,449:53:36:0.222 chr22 27067045 rs4280 G T 894.95 PASS BaseQRankSum=0.424;DP=68;Dels=0.00;FS=2.093;HRun=0;HaplotypeScore=3.6506;MQ=55;MQ0=0;MQRankSum=1.512;QD=13.16;ReadPosRankSum=1.284;SB=-578.18;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,38:68:99:925,0,711:55:99:0.567 chr22 27067224 rs1894720 G T 1138.47 PASS BaseQRankSum=0.234;DP=102;Dels=0.00;FS=0.770;HRun=0;HaplotypeScore=13.8679;MQ=55;MQ0=0;MQRankSum=2.518;QD=11.16;ReadPosRankSum=0.080;SB=-660.33;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,49:102:99:1168,0,1283:55:99:0.480 chr22 27067643 rs73163299 A G 2211.54 PASS BaseQRankSum=1.192;DP=145;Dels=0.00;FS=1.354;HRun=0;HaplotypeScore=8.4692;MQ=57;MQ0=0;MQRankSum=-0.974;QD=15.25;ReadPosRankSum=-0.026;SB=-1400.96;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,88:145:99:2242,0,1309:57:99:0.607 chr22 27067792 rs8142049 C T 1431.41 PASS BaseQRankSum=-0.012;DP=113;Dels=0.00;FS=3.556;HRun=1;HaplotypeScore=68.1438;MQ=54;MQ0=0;MQRankSum=1.327;QD=12.67;ReadPosRankSum=-1.286;SB=-779.54;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,55:113:99:1461,0,1687:54:99:0.491 chr22 27067793 . TA T 480.53 R8 BaseQRankSum=-3.418;DP=113;FS=0.000;HRun=13;HaplotypeScore=683.7276;MQ=54;MQ0=0;MQRankSum=3.392;QD=4.25;ReadPosRankSum=0.049;SB=-154.19;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:73,26:113:99:520,0,1318:54:99:0.263 chr22 27068153 rs6005125 C T 606.62 PASS BaseQRankSum=0.890;DP=52;Dels=0.00;FS=2.921;HRun=0;HaplotypeScore=4.7255;MQ=55;MQ0=0;MQRankSum=-0.505;QD=11.67;ReadPosRankSum=0.688;SB=-239.82;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:28,24:52:99:637,0,851:55:99:0.462 chr22 27068565 . GA G 1036.82 PASS BaseQRankSum=1.188;DP=46;FS=2.716;HRun=2;HaplotypeScore=188.7174;MQ=57;MQ0=0;MQRankSum=-0.322;QD=22.54;ReadPosRankSum=0.669;SB=-524.95;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,29:46:99:1076,0,503:57:99:0.659 chr22 27068592 rs5761671 G A 1254.69 PASS DP=38;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=33.02;SB=-541.52;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,38:38:99:1288,99,0:56:99:1.000 chr22 27068645 rs55745076 G A 607.46 PASS BaseQRankSum=-0.352;DP=39;Dels=0.00;FS=2.984;HRun=2;HaplotypeScore=4.3808;MQ=58;MQ0=0;MQRankSum=1.845;QD=15.58;ReadPosRankSum=1.338;SB=-193.90;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,21:39:99:637,0,581:58:99:0.538 chr22 27068702 rs9625066 C A 872.69 PASS BaseQRankSum=1.236;DP=59;Dels=0.00;FS=1.186;HRun=0;HaplotypeScore=1.8936;MQ=57;MQ0=0;MQRankSum=-0.675;QD=14.79;ReadPosRankSum=-0.569;SB=-191.54;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:29,30:59:99:903,0,906:57:99:0.508 chr22 27069439 rs5761672 G A 458.42 PASS BaseQRankSum=1.474;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=57;MQ0=0;MQRankSum=-0.415;QD=15.81;ReadPosRankSum=-0.507;SB=-103.25;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,15:29:99:488,0,416:57:99:0.536 chr22 27069557 rs6005127 C T 715.78 PASS BaseQRankSum=1.039;DP=45;Dels=0.00;FS=1.256;HRun=1;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=-0.011;QD=15.91;ReadPosRankSum=-0.080;SB=-282.70;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,25:45:99:746,0,565:59:99:0.556 chr22 27069609 . CTTTGAACTTGGCTAACACAGG C 1490.18 PASS BaseQRankSum=0.440;DP=53;FS=0.000;HRun=0;HaplotypeScore=73.9946;MQ=58;MQ0=0;MQRankSum=0.734;QD=28.12;ReadPosRankSum=-1.497;SB=-412.24;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:32,21:53:99:1529,0,2921:58:99:0.396 chr22 27069907 rs1018834 A T 1068.89 PASS BaseQRankSum=0.619;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=57;MQ0=0;MQRankSum=2.117;QD=14.06;ReadPosRankSum=0.598;SB=-550.23;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:36,40:76:99:1099,0,978:57:99:0.526 chr22 27070451 rs713720 C G 1072.98 PASS DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=32.51;SB=-444.55;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:81.27:1106,81,0:58:81:1.000 chr22 27070749 rs4822768 C T 742.62 PASS BaseQRankSum=0.387;DP=52;Dels=0.00;FS=7.679;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;MQRankSum=0.424;QD=14.28;ReadPosRankSum=0.147;SB=-394.54;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,29:52:99:773,0,622:56:99:0.558 chr22 27072140 rs1045362 G A 223.28 SB BaseQRankSum=-1.685;DP=35;Dels=0.00;FS=9.728;HRun=0;HaplotypeScore=20.1214;MQ=52;MQ0=0;MQRankSum=-0.122;QD=6.38;ReadPosRankSum=0.226;SB=-7.55;TI=NR_033319,NR_003491,NR_033321,NR_033320;GI=MIAT,MIAT,MIAT,MIAT;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,12:35:99:253,0,612:52:99:0.343 chr22 29885594 rs79235463 A T 725.83 PASS BaseQRankSum=2.997;DP=77;Dels=0.06;FS=10.545;HRun=0;HaplotypeScore=191.7453;MQ=38;MQ0=0;MQRankSum=0.825;QD=9.43;ReadPosRankSum=-4.777;SB=-215.65;TI=NM_021076;GI=NEFH;FC=Synonymous_P655P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,30:72:99:756,0,645:38:99:0.429 chr22 29885596 . A T 3.50 LowGQX;LowVariantFreq;SB BaseQRankSum=-0.920;DP=84;Dels=0.07;FS=2.148;HRun=0;HaplotypeScore=201.3947;MQ=40;MQ0=0;MQRankSum=-3.018;QD=0.04;ReadPosRankSum=3.502;SB=-0.01;TI=NM_021076;GI=NEFH;FC=Missense_E656V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,11:78:30.92:31,0,1432:40:4:0.157 chr22 29885602 . A C 72.85 LowVariantFreq;SB BaseQRankSum=0.350;DP=73;Dels=0.14;FS=1.684;HRun=0;HaplotypeScore=207.4707;MQ=38;MQ0=0;MQRankSum=-0.848;QD=1.00;ReadPosRankSum=-0.774;SB=-6.38;TI=NM_021076;GI=NEFH;FC=Missense_E658A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,11:63:99:103,0,1026:38:73:0.177 chr22 29885604 . G A 13.53 LowVariantFreq;SB BaseQRankSum=0.226;DP=73;Dels=0.15;FS=9.528;HRun=2;HaplotypeScore=204.9727;MQ=38;MQ0=0;MQRankSum=-0.583;QD=0.19;ReadPosRankSum=-2.369;SB=-0.01;TI=NM_021076;GI=NEFH;FC=Missense_E659K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:56,6:62:43.33:43,0,1234:38:14:0.097 chr22 29885606 . G A 59.49 LowVariantFreq;SB BaseQRankSum=-3.317;DP=75;Dels=0.05;FS=10.140;HRun=1;HaplotypeScore=172.8841;MQ=37;MQ0=0;MQRankSum=-2.493;QD=0.79;ReadPosRankSum=0.847;SB=-0.01;TI=NM_021076;GI=NEFH;FC=Synonymous_E659E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,12:71:89.48:89,0,1500:37:59:0.174 chr22 29885609 . C A 117.61 SB BaseQRankSum=-0.867;DP=76;Dels=0.03;FS=8.788;HRun=2;HaplotypeScore=172.9879;MQ=38;MQ0=0;MQRankSum=-2.614;QD=1.55;ReadPosRankSum=1.836;SB=-0.01;TI=NM_021076;GI=NEFH;FC=Synonymous_A660A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,15:74:99:148,0,1424:38:99:0.205 chr22 29885618 . T A 87.46 LowVariantFreq;SB BaseQRankSum=1.006;DP=84;Dels=0.01;FS=16.649;HRun=0;HaplotypeScore=82.3413;MQ=37;MQ0=0;MQRankSum=-1.117;QD=1.04;ReadPosRankSum=-2.926;SB=-0.01;TI=NM_021076;GI=NEFH;FC=Synonymous_P663P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,8:83:99:117,0,1269:37:87:0.114 chr22 29885638 . T C 47.55 LowVariantFreq;SB BaseQRankSum=-2.110;DP=95;Dels=0.01;FS=27.434;HRun=0;HaplotypeScore=97.3233;MQ=37;MQ0=2;MQRankSum=-0.940;QD=0.50;ReadPosRankSum=-0.289;SB=-0.01;TI=NM_021076;GI=NEFH;FC=Missense_V670A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,13:94:77.54:78,0,1541:37:48:0.148 chr22 29885644 . C A 426.76 PASS BaseQRankSum=-0.383;DP=98;Dels=0.00;FS=3.715;HRun=1;HaplotypeScore=93.0817;MQ=38;MQ0=2;MQRankSum=-1.654;QD=4.35;ReadPosRankSum=-0.530;SB=-175.03;TI=NM_021076;GI=NEFH;FC=Missense_A672E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,27:98:99:457,0,1305:38:99:0.276 chr22 29885648 . A G 133.98 LowVariantFreq;SB BaseQRankSum=-2.339;DP=100;Dels=0.00;FS=9.104;HRun=1;HaplotypeScore=81.4489;MQ=37;MQ0=2;MQRankSum=-1.105;QD=1.34;ReadPosRankSum=0.659;SB=-0.01;TI=NM_021076;GI=NEFH;FC=Synonymous_E673E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,17:100:99:164,0,1726:37:99:0.172 chr22 29885651 . A C 34.82 LowVariantFreq;SB BaseQRankSum=-1.776;DP=99;Dels=0.00;FS=8.979;HRun=1;HaplotypeScore=65.8217;MQ=38;MQ0=2;MQRankSum=-0.566;QD=0.35;ReadPosRankSum=0.006;SB=-0.01;TI=NM_021076;GI=NEFH;FC=Synonymous_A674A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,12:99:64.81:65,0,1778:38:35:0.124 chr22 29885686 . C A 273.56 SB BaseQRankSum=0.004;DP=115;Dels=0.05;FS=20.938;HRun=1;HaplotypeScore=147.2200;MQ=37;MQ0=2;MQRankSum=-1.755;QD=2.38;ReadPosRankSum=0.737;SB=-0.01;TI=NM_021076;GI=NEFH;FC=Missense_A686E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:80,26:109:99:304,0,1356:37:99:0.245 chr22 29885735 . A C 71.76 LowVariantFreq;SB BaseQRankSum=-0.587;DP=113;Dels=0.00;FS=5.500;HRun=1;HaplotypeScore=82.5300;MQ=36;MQ0=3;MQRankSum=0.374;QD=0.64;ReadPosRankSum=-1.898;SB=-0.01;TI=NM_021076;GI=NEFH;FC=Synonymous_A702A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,14:113:99:102,0,1747:36:72:0.127 chr22 29885828 . C T 29.30 LowVariantFreq;SB BaseQRankSum=-0.387;DP=71;Dels=0.00;FS=11.504;HRun=0;HaplotypeScore=31.9578;MQ=44;MQ0=0;MQRankSum=-2.709;QD=0.41;ReadPosRankSum=0.161;SB=-0.01;TI=NM_021076;GI=NEFH;FC=Synonymous_P733P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,13:71:59.29:59,0,1281:44:29:0.197 chr22 29885861 rs165923 T A,C 1543.07 PASS BaseQRankSum=1.203;DP=73;Dels=0.00;FS=0.000;HaplotypeScore=26.3015;MQ=46;MQ0=0;MQRankSum=0.192;QD=21.14;ReadPosRankSum=-0.337;SB=-874.25;TI=NM_021076;GI=NEFH;FC=Synonymous_A744A/Synonymous_A744A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:1,11,60:73:51.58:1603,1428,1410,175,0,52:46:52:0.986 chr22 29886341 rs61744118 C T 714.93 PASS BaseQRankSum=1.578;DP=78;Dels=0.00;FS=0.909;HRun=0;HaplotypeScore=10.2449;MQ=54;MQ0=0;MQRankSum=1.386;QD=9.17;ReadPosRankSum=-0.243;SB=-372.82;TI=NM_021076;GI=NEFH;FC=Synonymous_P904P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:45,33:78:99:745,0,1194:54:99:0.423 chr22 29886413 rs165625 A G 1046.66 PASS BaseQRankSum=2.219;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.3742;MQ=56;MQ0=0;MQRankSum=1.829;QD=32.71;ReadPosRankSum=0.584;SB=-220.52;TI=NM_021076;GI=NEFH;FC=Synonymous_V928V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,30:32:64.59:1080,65,0:56:65:0.938 chr22 31011280 rs7290898 A C 735.68 PASS BaseQRankSum=0.099;DP=68;Dels=0.00;FS=2.389;HRun=5;HaplotypeScore=2.7880;MQ=57;MQ0=0;MQRankSum=-0.694;QD=10.82;ReadPosRankSum=-0.136;SB=-184.96;TI=NM_000355,NM_001184726;GI=TCN2,TCN2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,29:68:99:766,0,1087:57:99:0.426 chr22 31011610 rs1801198 G C 1983.51 PASS DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=34.20;SB=-1069.91;TI=NM_000355,NM_001184726;GI=TCN2,TCN2;FC=Missense_R259P,Missense_R232P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,58:58:99:2017,150,0:60:99:1.000 chr22 32482321 rs5998233 T G 504.70 PASS BaseQRankSum=1.353;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=0.416;QD=14.84;ReadPosRankSum=0.555;SB=-164.07;TI=NM_000343,NR_033411;GI=SLC5A1,SLC5A1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,19:34:99:535,0,327:53:99:0.559 chr22 34022284 rs86487 G A 1178.60 PASS BaseQRankSum=1.323;DP=136;Dels=0.00;FS=3.252;HRun=0;HaplotypeScore=2.7873;MQ=51;MQ0=0;MQRankSum=0.340;QD=8.67;ReadPosRankSum=3.285;SB=-746.68;TI=NM_133642,NM_004737;GI=LARGE,LARGE;FC=Synonymous_A145A,Synonymous_A145A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:82,54:136:99:1209,0,2111:51:99:0.397 chr22 36537763 rs61741884 C T 2025.20 PASS BaseQRankSum=3.862;DP=142;Dels=0.00;FS=0.661;HRun=0;HaplotypeScore=9.1234;MQ=56;MQ0=0;MQRankSum=1.965;QD=14.26;ReadPosRankSum=0.416;SB=-929.40;TI=NR_027833,NR_027834,NR_027835,NM_145640,NM_145642,NM_145641;GI=APOL3,APOL3,APOL3,APOL3,APOL3,APOL3;FC=Silent,Silent,Silent,Missense_V232M,Missense_V32M,Missense_V32M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,77:142:99:2055,0,1798:56:99:0.546 chr22 36537893 rs3827346 A G 1574.35 PASS BaseQRankSum=1.642;DP=107;Dels=0.00;FS=7.873;HRun=0;HaplotypeScore=4.7874;MQ=58;MQ0=0;MQRankSum=-0.290;QD=14.71;ReadPosRankSum=-0.857;SB=-832.80;TI=NR_027833,NR_027834,NR_027835,NM_145640,NM_145642,NM_145641;GI=APOL3,APOL3,APOL3,APOL3,APOL3,APOL3;FC=Silent,Silent,Silent,Synonymous_N188N,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,52:107:99:1604,0,1520:58:99:0.486 chr22 36556823 rs132653 G T 2971.88 PASS BaseQRankSum=1.254;DP=224;Dels=0.00;FS=0.504;HRun=0;HaplotypeScore=3.7813;MQ=58;MQ0=0;MQRankSum=0.969;QD=13.27;ReadPosRankSum=-0.021;SB=-2114.91;TI=NR_027833,NR_027834,NR_027835,NM_145640,NM_145642,NM_145641;GI=APOL3,APOL3,APOL3,APOL3,APOL3,APOL3;FC=Silent,Silent,Silent,Missense_S39R,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,131:224:99:3002,0,2020:58:99:0.590 chr22 36684331 rs5756130 C T 949.33 PASS BaseQRankSum=0.968;DP=92;Dels=0.00;FS=1.725;HRun=0;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=-0.074;QD=10.32;ReadPosRankSum=0.310;SB=-640.38;TI=NM_002473;GI=MYH9;FC=Synonymous_R1633R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,42:92:99:979,0,1198:53:99:0.457 chr22 36684352 . G A 1046.96 PASS BaseQRankSum=2.164;DP=99;Dels=0.00;FS=0.768;HRun=1;HaplotypeScore=4.6751;MQ=53;MQ0=0;MQRankSum=0.537;QD=10.58;ReadPosRankSum=2.024;SB=-750.96;TI=NM_002473;GI=MYH9;FC=Synonymous_I1626I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,46:99:99:1077,0,1247:53:99:0.465 chr22 36691607 rs710181 A C 4571.25 PASS DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=30.47;SB=-2459.31;TI=NM_002473;GI=MYH9;FC=Synonymous_A1143A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,150:150:99:4571,334,0:56:99:1.000 chr22 36708084 rs2413396 C T 1891.90 PASS BaseQRankSum=-1.509;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59;MQ0=0;MQRankSum=-1.062;QD=30.51;ReadPosRankSum=-1.509;SB=-814.00;TI=NM_002473;GI=MYH9;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,61:62:99:1925,110,0:59:99:0.984 chr22 36710183 rs3752462 T C 2609.18 PASS DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=58;MQ0=0;QD=33.45;SB=-606.50;TI=NM_002473;GI=MYH9;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,77:78:99:2642,196,0:58:99:1.000 chr22 37271882 rs2075939 T C 5921.93 PASS DP=209;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.9904;MQ=56;MQ0=0;QD=28.33;SB=-3840.33;TI=NM_000631,NM_013416;GI=NCF4,NCF4;FC=Silent,Missense_L272P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,209:209:99:5922,427,0:56:99:1.000 chr22 37333794 rs131840 A G 1272.11 PASS BaseQRankSum=0.372;DP=109;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7605;MQ=57;MQ0=0;MQRankSum=-0.828;QD=11.67;ReadPosRankSum=0.742;SB=-367.99;TI=NM_000395;GI=CSF2RB;FC=Synonymous_P648P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,45:109:99:1302,0,1879:57:99:0.413 chr22 37415887 . C A 5.93 LowGQX;LowGQ;SB;LowDP BaseQRankSum=0.804;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.804;QD=2.97;ReadPosRankSum=0.804;SB=-0.01;TI=NM_001013436,NM_021126,NR_024038,NM_001130517;GI=MPST,MPST,MPST,MPST;FC=Silent,Missense_P4T,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,1:2:21.65:35,0,22:60:6:0.500 chr22 37462936 rs855791 A G 1274.67 PASS BaseQRankSum=2.324;DP=104;Dels=0.00;FS=0.736;HRun=1;HaplotypeScore=2.6548;MQ=52;MQ0=0;MQRankSum=0.127;QD=12.26;ReadPosRankSum=0.569;SB=-781.40;TI=NM_153609;GI=TMPRSS6;FC=Missense_V736A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,52:104:99:1305,0,1226:52:99:0.500 chr22 37469591 rs4820268 G A 780.07 PASS BaseQRankSum=-0.333;DP=51;Dels=0.00;FS=2.487;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;MQRankSum=1.151;QD=15.30;ReadPosRankSum=0.903;SB=-329.81;TI=NM_153609;GI=TMPRSS6;FC=Synonymous_D521D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,29:51:99:810,0,427:55:99:0.569 chr22 37471290 rs881144 G A 1383.17 PASS BaseQRankSum=0.635;DP=115;Dels=0.00;FS=1.522;HRun=0;HaplotypeScore=3.6821;MQ=55;MQ0=0;MQRankSum=0.535;QD=12.03;ReadPosRankSum=1.806;SB=-655.61;TI=NM_153609;GI=TMPRSS6;FC=Synonymous_Y418Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,55:115:99:1413,0,1388:55:99:0.478 chr22 37499386 rs11704654 C T 4434.20 PASS BaseQRankSum=0.822;DP=148;Dels=0.00;FS=2.714;HRun=0;HaplotypeScore=9.1700;MQ=56;MQ0=0;MQRankSum=0.423;QD=29.96;ReadPosRankSum=-0.507;SB=-2038.95;TI=NM_153609;GI=TMPRSS6;FC=Synonymous_P33P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,146:148:99:4434,257,0:56:99:0.986 chr22 38119213 rs12628603 G A 65.88 SB;LowDP BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=0.358;QD=13.18;ReadPosRankSum=-0.358;SB=-0.01;TI=NM_001039141;GI=TRIOBP;FC=Missense_S217N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,3:5:66.25:96,0,66:60:66:0.600 chr22 38119754 rs67890459 TCAA T 1042.75 PASS BaseQRankSum=-0.448;DP=68;FS=1.037;HRun=0;HaplotypeScore=119.9334;MQ=48;MQ0=0;MQRankSum=1.875;QD=15.33;ReadPosRankSum=0.645;SB=-484.25;TI=NM_001039141;GI=TRIOBP;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,22:61:99:1082,0,2314:48:99:0.324 chr22 38119894 rs35105846 G A 75.85 SB BaseQRankSum=0.205;DP=99;Dels=0.00;FS=29.092;HRun=1;HaplotypeScore=55.8885;MQ=35;MQ0=4;MQRankSum=-2.101;QD=0.77;ReadPosRankSum=-0.005;SB=-0.01;TI=NM_001039141;GI=TRIOBP;FC=Missense_S444N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,23:99:99:106,0,1219:35:76:0.237 chr22 38120006 . T C 142.17 SB BaseQRankSum=-2.920;DP=110;Dels=0.00;FS=8.953;HRun=0;HaplotypeScore=59.6666;MQ=27;MQ0=7;MQRankSum=0.482;QD=1.29;ReadPosRankSum=1.599;SB=-8.38;TI=NM_001039141;GI=TRIOBP;FC=Synonymous_C481C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:84,22:110:99:172,0,1081:27:99:0.208 chr22 38120041 rs4821700 G A 769.98 PASS BaseQRankSum=2.215;DP=115;Dels=0.02;FS=33.301;HRun=1;HaplotypeScore=86.4210;MQ=27;MQ0=4;MQRankSum=-1.100;QD=6.70;ReadPosRankSum=-1.253;SB=-105.29;TI=NM_001039141;GI=TRIOBP;FC=Missense_S493N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,57:113:99:800,0,473:27:99:0.523 chr22 38120429 rs6000868 T C 318.26 SB BaseQRankSum=0.288;DP=97;Dels=0.00;FS=41.644;HRun=0;HaplotypeScore=37.5798;MQ=37;MQ0=7;MQRankSum=-4.761;QD=3.28;ReadPosRankSum=-1.258;SB=-0.01;TI=NM_001039141;GI=TRIOBP;FC=Synonymous_D622D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,43:97:99:348,0,1138:37:99:0.448 chr22 38120483 . C T 11.50 SB BaseQRankSum=-0.181;DP=82;Dels=0.00;FS=15.294;HRun=0;HaplotypeScore=49.9158;MQ=42;MQ0=1;MQRankSum=-3.956;QD=0.14;ReadPosRankSum=-0.919;SB=-0.01;TI=NM_001039141;GI=TRIOBP;FC=Synonymous_N640N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,16:82:41.18:41,0,1543:42:12:0.200 chr22 38120497 . A G 8.19 LowGQX;SB BaseQRankSum=-0.082;DP=76;Dels=0.00;FS=21.639;HRun=0;HaplotypeScore=95.7131;MQ=43;MQ0=0;MQRankSum=-4.284;QD=0.11;ReadPosRankSum=-0.044;SB=-0.01;TI=NM_001039141;GI=TRIOBP;FC=Missense_Q645R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:58,17:76:37.47:37,0,1473:43:8:0.227 chr22 38120503 . G A 183.62 PASS BaseQRankSum=-0.007;DP=70;Dels=0.00;FS=3.255;HRun=1;HaplotypeScore=65.2737;MQ=43;MQ0=0;MQRankSum=-3.386;QD=2.62;ReadPosRankSum=-0.737;SB=-48.50;TI=NM_001039141;GI=TRIOBP;FC=Missense_S647N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,21:70:99:214,0,955:43:99:0.313 chr22 38120596 . T A 3.74 LowGQX;SB BaseQRankSum=-2.045;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=33.2922;MQ=46;MQ0=0;MQRankSum=-2.642;QD=0.08;ReadPosRankSum=1.329;SB=-8.02;TI=NM_001039141;GI=TRIOBP;FC=Missense_L678Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,9:49:31.35:31,0,898:46:4:0.209 chr22 38120626 . G A 24.80 PASS BaseQRankSum=-0.934;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=40.3691;MQ=46;MQ0=0;MQRankSum=-1.366;QD=0.54;ReadPosRankSum=-0.762;SB=-32.85;TI=NM_001039141;GI=TRIOBP;FC=Missense_S688N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:33,10:46:54.78:55,0,657:46:25:0.233 chr22 38120635 . T C 79.86 PASS BaseQRankSum=-1.963;DP=46;Dels=0.00;FS=8.140;HRun=2;HaplotypeScore=54.6958;MQ=46;MQ0=0;MQRankSum=-1.963;QD=1.74;ReadPosRankSum=-2.044;SB=-13.86;TI=NM_001039141;GI=TRIOBP;FC=Missense_I691T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,12:46:99:110,0,622:46:80:0.279 chr22 38120645 . G C 49.20 PASS BaseQRankSum=-3.498;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=27.5982;MQ=46;MQ0=0;MQRankSum=-0.900;QD=1.12;ReadPosRankSum=-3.061;SB=-43.63;TI=NM_001039141;GI=TRIOBP;FC=Missense_E694D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:31,13:44:79.20:79,0,740:46:49:0.295 chr22 38120783 . G A 49.13 SB BaseQRankSum=-3.185;DP=55;Dels=0.07;FS=1.795;HRun=1;HaplotypeScore=76.8328;MQ=47;MQ0=0;MQRankSum=-3.068;QD=0.89;ReadPosRankSum=1.101;SB=-0.01;TI=NM_001039141;GI=TRIOBP;FC=Synonymous_Q740Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:39,11:51:79.12:79,0,1007:47:49:0.220 chr22 38121152 rs9610841 C A 840.45 PASS BaseQRankSum=1.249;DP=85;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.5475;MQ=57;MQ0=0;MQRankSum=0.221;QD=9.89;ReadPosRankSum=0.960;SB=-483.34;TI=NM_001039141;GI=TRIOBP;FC=Missense_N863K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,33:85:99:870,0,1433:57:99:0.388 chr22 38122122 rs5756795 T C 131.37 LowGQ;LowDP DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=26.27;SB=-80.84;TI=NM_001039141;GI=TRIOBP;FC=Missense_F1187L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:12.04:164,12,0:60:12:1.000 chr22 38129332 rs7284476 G A 749.79 PASS BaseQRankSum=0.665;DP=94;Dels=0.00;FS=3.997;HRun=1;HaplotypeScore=10.1793;MQ=53;MQ0=0;MQRankSum=2.213;QD=7.98;ReadPosRankSum=-0.086;SB=-530.01;TI=NM_001039141;GI=TRIOBP;FC=Synonymous_Q1325Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,35:94:99:780,0,1497:53:99:0.372 chr22 38130459 rs8140207 G T 1043.75 PASS BaseQRankSum=3.372;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4250;MQ=58;MQ0=0;MQRankSum=0.872;QD=11.47;ReadPosRankSum=1.310;SB=-368.01;TI=NM_001039141;GI=TRIOBP;FC=Missense_E1372D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:49,42:91:99:1074,0,1254:58:99:0.462 chr22 38130472 rs8140958 T C 2948.63 PASS BaseQRankSum=0.772;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4187;MQ=57;MQ0=0;MQRankSum=-0.840;QD=29.19;ReadPosRankSum=0.463;SB=-1370.96;TI=NM_001039141;GI=TRIOBP;FC=Missense_W1377R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,100:101:99:2982,186,0:57:99:0.990 chr22 38161835 rs34707138 T TG 372.84 PASS BaseQRankSum=0.190;DP=44;FS=2.285;HRun=8;HaplotypeScore=37.6810;MQ=59;MQ0=0;MQRankSum=1.259;QD=8.47;ReadPosRankSum=0.293;SB=-19.79;TI=NM_001039141,NM_007032;GI=TRIOBP,TRIOBP;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:26,16:44:99:412,0,414:59:99:0.381 chr22 38164106 rs4821708 C T 1481.91 PASS BaseQRankSum=2.484;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1247;MQ=54;MQ0=0;MQRankSum=-0.145;QD=11.31;ReadPosRankSum=-0.062;SB=-1020.63;TI=NM_001039141,NM_007032;GI=TRIOBP,TRIOBP;FC=Synonymous_Y2166Y,Synonymous_Y453Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,66:131:99:1512,0,1416:54:99:0.504 chr22 38369976 rs139884 A G 2524.17 PASS BaseQRankSum=1.165;DP=188;Dels=0.00;FS=4.260;HRun=0;HaplotypeScore=12.3369;MQ=56;MQ0=0;MQRankSum=3.970;QD=13.43;ReadPosRankSum=-0.056;SB=-1585.53;TI=NM_006941;GI=SOX10;FC=Synonymous_H309H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,99:188:99:2554,0,2186:56:99:0.527 chr22 39382079 rs5995649 C A 6428.59 PASS BaseQRankSum=1.673;DP=237;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1251;MQ=52;MQ0=2;MQRankSum=-1.405;QD=27.12;ReadPosRankSum=-1.673;SB=-4377.61;TI=NM_001193289,NM_004900;GI=APOBEC3A,APOBEC3B;FC=Silent,Missense_T146K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,234:237:99:6429,464,0:52:99:0.996 chr22 39482371 rs17496046 C G 1636.75 PASS BaseQRankSum=0.362;DP=120;Dels=0.00;FS=0.685;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;MQRankSum=-0.068;QD=13.64;ReadPosRankSum=-0.010;SB=-959.68;TI=NM_021822;GI=APOBEC3G;FC=Missense_Q275E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,61:120:99:1667,0,1443:53:99:0.508 chr22 39496412 rs139294 G C 909.54 PASS BaseQRankSum=0.364;DP=77;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8494;MQ=54;MQ0=0;MQRankSum=1.694;QD=11.81;ReadPosRankSum=-1.309;SB=-565.69;TI=NM_001166004,NM_001166003,NM_001166002,NM_181773;GI=APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H;FC=Synonymous_T43T,Synonymous_T43T,Synonymous_T43T,Synonymous_T43T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,39:77:99:940,0,950:54:99:0.513 chr22 39497404 rs139297 G C 1219.05 PASS BaseQRankSum=0.850;DP=93;Dels=0.00;FS=4.218;HRun=0;HaplotypeScore=6.2821;MQ=54;MQ0=0;MQRankSum=0.227;QD=13.11;ReadPosRankSum=-0.473;SB=-663.70;TI=NM_001166004,NM_001166003,NM_001166002,NM_181773;GI=APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H;FC=Missense_G105R,Missense_G105R,Missense_G105R,Missense_G105R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,49:93:99:1249,0,1000:54:99:0.527 chr22 39497452 rs139298 A G 1323.68 PASS BaseQRankSum=0.497;DP=94;Dels=0.00;FS=3.020;HRun=1;HaplotypeScore=3.6820;MQ=50;MQ0=0;MQRankSum=0.096;QD=14.08;ReadPosRankSum=-0.474;SB=-656.11;TI=NM_001166004,NM_001166003,NM_001166002,NM_181773;GI=APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H;FC=Missense_K121E,Missense_K121E,Missense_K121E,Missense_K121E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:38,56:94:99:1354,0,987:50:99:0.596 chr22 39497454 rs139299 G C 1299.82 PASS BaseQRankSum=1.323;DP=94;Dels=0.00;FS=4.464;HRun=0;HaplotypeScore=3.6820;MQ=50;MQ0=0;MQRankSum=-0.106;QD=13.83;ReadPosRankSum=-0.404;SB=-700.40;TI=NM_001166004,NM_001166003,NM_001166002,NM_181773;GI=APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H;FC=Missense_K121N,Missense_K121N,Missense_K121N,Missense_K121N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,56:94:99:1330,0,920:50:99:0.602 chr22 39497509 rs139300 A G 1585.58 PASS DP=57;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6739;MQ=47;MQ0=0;QD=27.82;SB=-703.88;TI=NM_001166004,NM_001166003,NM_001166002,NM_181773;GI=APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H;FC=Unknown_140,Unknown_140,Unknown_140,Unknown_140;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:57:99:1619,120,0:47:99:1.000 chr22 39498038 rs139302 G C 1270.36 PASS BaseQRankSum=1.126;DP=90;Dels=0.00;FS=0.861;HRun=0;HaplotypeScore=1.8401;MQ=55;MQ0=0;MQRankSum=3.216;QD=14.12;ReadPosRankSum=0.753;SB=-587.84;TI=NM_001166004,NM_001166003,NM_001166002,NM_181773;GI=APOBEC3H,APOBEC3H,APOBEC3H,APOBEC3H;FC=Silent,Missense_E178D,Missense_E178D,Missense_E178D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,49:90:99:1300,0,1038:55:99:0.544 chr22 39777822 . C CCAA 4164.49 PASS DP=73;FS=0.000;HRun=0;HaplotypeScore=127.0894;MQ=53;MQ0=0;QD=57.05;SB=-2016.25;TI=NM_004711;GI=SYNGR1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:12,60:73:99:4164,214,0:53:99:0.833 chr22 40814500 rs878756 T C 1672.99 PASS BaseQRankSum=0.219;DP=160;Dels=0.00;FS=1.298;HRun=1;HaplotypeScore=15.4686;MQ=55;MQ0=0;MQRankSum=2.854;QD=10.46;ReadPosRankSum=-0.545;SB=-914.99;TI=NM_020831;GI=MKL1;FC=Missense_S648G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,73:160:99:1703,0,2199:55:99:0.456 chr22 40814636 rs4821944 C T 1131.99 PASS BaseQRankSum=0.004;DP=97;Dels=0.00;FS=0.810;HRun=0;HaplotypeScore=16.1675;MQ=51;MQ0=0;MQRankSum=0.333;QD=11.67;ReadPosRankSum=1.375;SB=-515.59;TI=NM_020831;GI=MKL1;FC=Synonymous_A602A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,42:97:99:1162,0,1394:51:99:0.442 chr22 40814728 . C G 131.34 SB BaseQRankSum=-3.669;DP=69;Dels=0.00;FS=59.026;HRun=1;HaplotypeScore=60.3703;MQ=48;MQ0=0;MQRankSum=-1.449;QD=1.90;ReadPosRankSum=-2.346;SB=-0.01;TI=NM_020831;GI=MKL1;FC=Missense_G572R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,16:69:99:161,0,1347:48:99:0.239 chr22 40814730 . A G 338.07 SB BaseQRankSum=-2.650;DP=70;Dels=0.00;FS=90.158;HRun=6;HaplotypeScore=56.6394;MQ=48;MQ0=0;MQRankSum=-2.778;QD=4.83;ReadPosRankSum=-1.623;SB=-0.01;TI=NM_020831;GI=MKL1;FC=Missense_L571P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,24:70:99:368,0,1087:48:99:0.353 chr22 40814737 . C G 238.48 SB BaseQRankSum=-3.425;DP=66;Dels=0.00;FS=67.884;HRun=6;HaplotypeScore=59.1038;MQ=48;MQ0=0;MQRankSum=-3.384;QD=3.61;ReadPosRankSum=-1.360;SB=-0.01;TI=NM_020831;GI=MKL1;FC=Missense_A569P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:46,20:66:99:268,0,1201:48:99:0.303 chr22 41075543 rs133072 A G 2014.67 PASS BaseQRankSum=4.409;DP=163;Dels=0.00;FS=3.766;HRun=0;HaplotypeScore=7.2698;MQ=56;MQ0=0;MQRankSum=-0.504;QD=12.36;ReadPosRankSum=1.076;SB=-1426.19;TI=NM_005297;GI=MCHR1;FC=Missense_N32D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:76,87:163:99:2045,0,1704:56:99:0.534 chr22 41075695 rs133073 C T 491.50 PASS BaseQRankSum=0.599;DP=38;Dels=0.00;FS=13.824;HRun=0;HaplotypeScore=1.9889;MQ=59;MQ0=0;MQRankSum=-0.015;QD=12.93;ReadPosRankSum=0.921;SB=-156.89;TI=NM_005297;GI=MCHR1;FC=Synonymous_N82N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,18:38:99:521,0,685:59:99:0.474 chr22 41075696 . G A 578.71 SB BaseQRankSum=-0.332;DP=36;Dels=0.00;FS=9.834;HRun=0;HaplotypeScore=1.9889;MQ=59;MQ0=0;MQRankSum=-1.503;QD=16.08;ReadPosRankSum=-0.364;SB=-0.01;TI=NM_005297;GI=MCHR1;FC=Missense_A83T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,18:36:99:609,0,542:59:99:0.500 chr22 41537234 rs6002267 G T 2682.45 PASS DP=83;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.8941;MQ=57;MQ0=0;QD=32.32;SB=-1582.30;TI=NM_001429;GI=EP300;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2715,199,0:57:99:1.000 chr22 41551039 rs20552 T A 1471.36 PASS BaseQRankSum=-0.863;DP=114;Dels=0.00;FS=2.457;HRun=0;HaplotypeScore=4.4704;MQ=54;MQ0=0;MQRankSum=-0.049;QD=12.91;ReadPosRankSum=-2.784;SB=-951.19;TI=NM_001429;GI=EP300;FC=Synonymous_T1061T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,62:114:99:1501,0,1360:54:99:0.549 chr22 41903807 . G A 1904.47 PASS BaseQRankSum=2.494;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3768;MQ=53;MQ0=0;MQRankSum=1.772;QD=12.05;ReadPosRankSum=0.453;SB=-954.13;TI=NM_001098;GI=ACO2;FC=Synonymous_P62P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,73:158:99:1934,0,1960:53:99:0.462 chr22 41903813 rs137831 A C 2044.70 PASS BaseQRankSum=0.259;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3273;MQ=52;MQ0=0;MQRankSum=-0.636;QD=12.78;ReadPosRankSum=-0.581;SB=-1215.29;TI=NM_001098;GI=ACO2;FC=Synonymous_T64T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:72,88:160:99:2075,0,1922:52:99:0.550 chr22 41911525 rs1799932 C T 918.55 PASS BaseQRankSum=1.855;DP=86;Dels=0.00;FS=1.956;HRun=1;HaplotypeScore=1.7882;MQ=54;MQ0=0;MQRankSum=0.527;QD=10.68;ReadPosRankSum=-0.176;SB=-311.84;TI=NM_001098;GI=ACO2;FC=Synonymous_L224L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:51,35:86:99:949,0,1320:54:99:0.407 chr22 42276742 rs2228314 G C 393.68 PASS BaseQRankSum=-0.617;DP=35;Dels=0.00;FS=1.604;HRun=1;HaplotypeScore=1.7882;MQ=58;MQ0=0;MQRankSum=0.117;QD=11.25;ReadPosRankSum=0.950;SB=-179.16;TI=NM_004599;GI=SREBF2;FC=Missense_G595A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,20:35:99:424,0,401:58:99:0.571 chr22 42458827 rs55715427 G C 933.04 PASS BaseQRankSum=1.455;DP=78;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=5.7788;MQ=49;MQ0=0;MQRankSum=3.242;QD=11.96;ReadPosRankSum=2.411;SB=-543.29;TI=NM_000262;GI=NAGA;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:37,39:78:99:963,0,790:49:99:0.513 chr22 42463814 rs133369 C T 2163.21 PASS BaseQRankSum=2.739;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7209;MQ=54;MQ0=0;MQRankSum=0.029;QD=12.02;ReadPosRankSum=-0.925;SB=-1358.32;TI=NM_000262;GI=NAGA;FC=Synonymous_P93P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:87,93:180:99:2193,0,2011:54:99:0.517 chr22 42486723 rs1801311 G A 1366.05 PASS BaseQRankSum=1.906;DP=123;Dels=0.00;FS=6.888;HRun=1;HaplotypeScore=2.8480;MQ=54;MQ0=0;MQRankSum=3.384;QD=11.11;ReadPosRankSum=-0.185;SB=-814.86;TI=NM_002490;GI=NDUFA6;FC=Missense_A35V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:64,59:123:99:1396,0,1522:54:99:0.480 chr22 42523003 rs4987144 A G 234.32 PASS BaseQRankSum=0.558;DP=57;Dels=0.00;FS=2.695;HRun=1;HaplotypeScore=3.6974;MQ=36;MQ0=11;MQRankSum=-4.930;QD=4.11;ReadPosRankSum=-0.892;SB=-27.42;TI=NM_000106,NM_001025161;GI=CYP2D6,CYP2D6;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:27,30:57:99:264,0,847:36:99:0.526 chr22 42523943 rs16947 A G 1627.07 PASS BaseQRankSum=-0.076;DP=167;Dels=0.00;FS=1.227;HRun=0;HaplotypeScore=8.5644;MQ=52;MQ0=0;MQRankSum=0.682;QD=9.74;ReadPosRankSum=-0.750;SB=-1089.89;TI=NM_000106,NM_001025161;GI=CYP2D6,CYP2D6;FC=Missense_C296R,Missense_C245R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:94,73:167:99:1657,0,2182:52:99:0.437 chr22 42524947 rs1800716;rs3892097 C T 1745.30 PASS BaseQRankSum=-0.123;DP=174;Dels=0.00;FS=5.438;HRun=1;HaplotypeScore=7.4689;MQ=41;MQ0=34;MQRankSum=1.057;QD=10.03;ReadPosRankSum=0.411;SB=-771.17;TI=NM_000106,NM_001025161;GI=CYP2D6,CYP2D6;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,77:174:99:1775,0,1759:41:99:0.443 chr22 42526694 rs1065852;rs72552269 G A 784.13 PASS BaseQRankSum=0.650;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;MQRankSum=-2.040;QD=8.25;ReadPosRankSum=-0.125;SB=-555.33;TI=NM_000106,NM_001025161;GI=CYP2D6,CYP2D6;FC=Missense_P34S,Missense_P34S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,38:95:99:814,0,1232:50:99:0.400 chr22 42537271 rs28510588 T C 1790.98 PASS BaseQRankSum=0.916;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6546;MQ=54;MQ0=0;MQRankSum=3.007;QD=22.67;ReadPosRankSum=0.157;SB=-1331.90;TI=NR_002570;GI=CYP2D7P1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:6,73:79:63.65:1824,64,0:54:64:0.924 chr22 43032742 rs5996200 C T 1479.37 PASS BaseQRankSum=-1.227;DP=110;Dels=0.00;FS=1.599;HRun=0;HaplotypeScore=5.4153;MQ=54;MQ0=0;MQRankSum=0.704;QD=13.45;ReadPosRankSum=-0.957;SB=-1074.88;TI=NM_001171660,NM_001171661,NM_007326,NM_001129819,NM_000398;GI=CYB5R3,CYB5R3,CYB5R3,CYB5R3,CYB5R3;FC=Synonymous_P77P,Synonymous_P21P,Synonymous_P21P,Synonymous_P21P,Synonymous_P44P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,68:110:99:1509,0,885:54:99:0.618 chr22 43089747 . A G 5.94 LowGQX;SB BaseQRankSum=-4.919;DP=89;Dels=0.00;FS=41.892;HRun=3;HaplotypeScore=40.6725;MQ=46;MQ0=0;MQRankSum=-2.469;QD=0.07;ReadPosRankSum=3.067;SB=-0.01;TI=NM_017436;GI=A4GALT;FC=Missense_S71P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:65,23:89:34.66:35,0,1609:46:6:0.261 chr22 43558926 rs6971 A G 1226.80 PASS BaseQRankSum=2.297;DP=108;Dels=0.00;FS=3.618;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;MQRankSum=2.130;QD=11.36;ReadPosRankSum=0.318;SB=-600.54;TI=NM_007311,NM_000714;GI=TSPO,TSPO;FC=Missense_H53R,Missense_T147A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,48:108:99:1257,0,1491:54:99:0.444 chr22 43558972 rs6972 G A 1048.72 PASS BaseQRankSum=-0.160;DP=83;Dels=0.00;FS=1.791;HRun=0;HaplotypeScore=2.6274;MQ=55;MQ0=0;MQRankSum=0.817;QD=12.64;ReadPosRankSum=1.839;SB=-549.71;TI=NM_007311,NM_000714;GI=TSPO,TSPO;FC=Synonymous_A68A,Missense_R162H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:44,39:83:99:1079,0,1152:55:99:0.470 chr22 44324727 rs738409 C G 3686.18 PASS BaseQRankSum=2.226;DP=318;Dels=0.00;FS=0.409;HRun=0;HaplotypeScore=6.5693;MQ=54;MQ0=0;MQRankSum=2.643;QD=11.59;ReadPosRankSum=0.529;SB=-2351.03;TI=NM_025225;GI=PNPLA3;FC=Missense_I148M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:160,156:318:99:3686,0,3525:54:99:0.494 chr22 44324730 rs738408 C T 3361.19 PASS BaseQRankSum=1.691;DP=282;Dels=0.00;FS=2.730;HRun=2;HaplotypeScore=4.6754;MQ=54;MQ0=0;MQRankSum=3.434;QD=11.92;ReadPosRankSum=1.842;SB=-1473.84;TI=NM_025225;GI=PNPLA3;FC=Synonymous_P149P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:147,135:282:99:3361,0,3465:54:99:0.479 chr22 44328832 rs34179073 C T 2853.31 PASS BaseQRankSum=-0.406;DP=270;Dels=0.00;FS=0.932;HRun=2;HaplotypeScore=12.1443;MQ=52;MQ0=0;MQRankSum=-0.463;QD=10.57;ReadPosRankSum=0.449;SB=-2057.85;TI=NM_025225;GI=PNPLA3;FC=Synonymous_F187F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:141,129:270:99:2883,0,3339:52:99:0.478 chr22 44342116 rs2294918 A G 5181.75 PASS DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.3144;MQ=57;MQ0=0;QD=29.44;SB=-3064.82;TI=NM_025225;GI=PNPLA3;FC=Missense_K434E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,176:176:99:5182,376,0:57:99:1.000 chr22 45683246 rs2673088 C T 2712.43 PASS BaseQRankSum=0.646;DP=101;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5420;MQ=54;MQ0=0;MQRankSum=1.597;QD=26.86;ReadPosRankSum=-0.402;SB=-1439.60;TI=NM_001167574,NM_006953;GI=UPK3A,UPK3A;FC=Silent,Synonymous_V134V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,99:101:99:2745,160,0:54:99:0.980 chr22 45683304 rs1057353 G C 1583.27 PASS BaseQRankSum=1.416;DP=55;Dels=0.00;FS=3.235;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=2.046;QD=28.79;ReadPosRankSum=2.001;SB=-508.41;TI=NM_001167574,NM_006953;GI=UPK3A,UPK3A;FC=Silent,Missense_A154P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,53:55:81.63:1616,82,0:57:82:0.964 chr22 45748339 rs5765275 A G 1652.14 PASS BaseQRankSum=0.838;DP=131;Dels=0.00;FS=2.248;HRun=1;HaplotypeScore=2.7880;MQ=56;MQ0=0;MQRankSum=-0.561;QD=12.61;ReadPosRankSum=0.972;SB=-1159.19;TI=NM_148674;GI=SMC1B;FC=Synonymous_A1139A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:60,71:131:99:1682,0,1374:56:99:0.542 chr22 45749983 rs5764698 G T 1395.09 PASS BaseQRankSum=1.662;DP=120;Dels=0.00;FS=7.000;HRun=1;HaplotypeScore=3.5764;MQ=54;MQ0=0;MQRankSum=2.434;QD=11.63;ReadPosRankSum=2.345;SB=-725.14;TI=NM_148674;GI=SMC1B;FC=Missense_L1050M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:62,58:120:99:1425,0,1527:54:99:0.483 chr22 45758758 rs719925 T C 870.57 PASS BaseQRankSum=2.243;DP=56;Dels=0.00;FS=6.014;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=0;MQRankSum=1.830;QD=15.55;ReadPosRankSum=-0.306;SB=-268.39;TI=NM_148674;GI=SMC1B;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,32:56:99:901,0,579:57:99:0.571 chr22 45767421 rs56174639 C T 2170.59 PASS BaseQRankSum=2.084;DP=186;Dels=0.00;FS=3.379;HRun=0;HaplotypeScore=4.8930;MQ=54;MQ0=0;MQRankSum=-1.365;QD=11.67;ReadPosRankSum=-1.199;SB=-1489.38;TI=NM_148674;GI=SMC1B;FC=Missense_C748Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:91,95:186:99:2201,0,2391:54:99:0.511 chr22 45767455 rs136569 A G 1914.30 PASS BaseQRankSum=3.322;DP=172;Dels=0.00;FS=4.521;HRun=0;HaplotypeScore=3.8816;MQ=55;MQ0=0;MQRankSum=2.163;QD=11.13;ReadPosRankSum=1.134;SB=-1268.05;TI=NM_148674;GI=SMC1B;FC=Synonymous_L737L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:93,79:172:99:1944,0,2490:55:99:0.459 chr22 45782903 rs6007010 T C 979.41 PASS BaseQRankSum=-0.625;DP=76;Dels=0.00;FS=1.016;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;MQRankSum=1.157;QD=12.89;ReadPosRankSum=0.865;SB=-258.21;TI=NM_148674;GI=SMC1B;FC=Synonymous_L585L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:41,35:76:99:1009,0,1095:60:99:0.461 chr22 45789642 rs136603 A C 5646.20 PASS DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=29.10;SB=-3087.04;TI=NM_148674;GI=SMC1B;FC=Missense_F473V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,194:194:99:5646,403,0:56:99:1.000 chr22 45923827 rs136730 A G 4745.09 PASS DP=177;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2312;MQ=52;MQ0=0;QD=26.81;SB=-3194.89;TI=NM_006487,NM_001996,NM_006485,NM_006486;GI=FBLN1,FBLN1,FBLN1,FBLN1;FC=Missense_Q141R,Missense_Q141R,Missense_Q141R,Missense_Q141R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,177:177:99:4745,337,0:52:99:1.000 chr22 45937149 rs9682 C T 3039.36 PASS BaseQRankSum=1.973;DP=236;Dels=0.00;FS=2.894;HRun=1;HaplotypeScore=10.8059;MQ=52;MQ0=0;MQRankSum=1.139;QD=12.88;ReadPosRankSum=-0.459;SB=-2014.25;TI=NM_006487,NM_001996,NM_006485,NM_006486;GI=FBLN1,FBLN1,FBLN1,FBLN1;FC=Synonymous_I321I,Synonymous_I321I,Synonymous_I321I,Synonymous_I321I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:112,124:236:99:3069,0,2733:52:99:0.525 chr22 46614274 rs1800206 C G 1100.24 PASS BaseQRankSum=0.067;DP=99;Dels=0.00;FS=0.758;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=0.410;QD=11.11;ReadPosRankSum=-0.046;SB=-734.78;TI=NM_001001928,NM_005036;GI=PPARA,PPARA;FC=Missense_L162V,Missense_L162V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,51:99:99:1130,0,1073:55:99:0.515 chr22 46780573 . G A 633.81 PASS BaseQRankSum=-0.522;DP=47;Dels=0.00;FS=1.182;HRun=1;HaplotypeScore=1.9981;MQ=57;MQ0=0;MQRankSum=1.738;QD=13.49;ReadPosRankSum=0.586;SB=-342.72;TI=NM_014246;GI=CELSR1;FC=Synonymous_V2250V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:22,25:47:99:664,0,680:57:99:0.532 chr22 46929692 rs4823561 A G 5270.28 PASS DP=171;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.9426;MQ=54;MQ0=0;QD=30.82;SB=-3022.74;TI=NM_014246;GI=CELSR1;FC=Missense_C1126R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,171:171:99:5270,394,0:54:99:1.000 chr22 46931077 rs4823850 G C 4456.34 PASS DP=146;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.4431;MQ=55;MQ0=0;QD=30.52;SB=-2447.31;TI=NM_014246;GI=CELSR1;FC=Missense_S664W;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,145:146:99:4456,337,0:55:99:1.000 chr22 46931793 rs1009154 G C 5492.49 PASS BaseQRankSum=1.711;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.4901;MQ=56;MQ0=0;MQRankSum=1.587;QD=32.89;ReadPosRankSum=0.114;SB=-3144.29;TI=NM_014246;GI=CELSR1;FC=Synonymous_L425L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,166:167:99:5492,409,0:56:99:0.994 chr22 46931838 rs1009155 G A 7075.54 PASS BaseQRankSum=0.680;DP=214;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9639;MQ=55;MQ0=0;MQRankSum=0.858;QD=33.06;ReadPosRankSum=0.356;SB=-3818.82;TI=NM_014246;GI=CELSR1;FC=Synonymous_S410S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,213:214:99:7076,489,0:55:99:0.995 chr22 50297888 rs3922872 T C 1929.20 PASS BaseQRankSum=4.323;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1027;MQ=52;MQ0=0;MQRankSum=0.545;QD=10.37;ReadPosRankSum=0.340;SB=-1263.20;TI=NM_024105;GI=ALG12;FC=Missense_I393V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:103,83:186:99:1959,0,2469:52:99:0.446 chr22 50301476 rs8135963 T C 1490.98 PASS BaseQRankSum=1.103;DP=118;Dels=0.00;FS=1.480;HRun=0;HaplotypeScore=1.7882;MQ=49;MQ0=0;MQRankSum=0.800;QD=12.64;ReadPosRankSum=-1.146;SB=-1034.84;TI=NM_024105;GI=ALG12;FC=Synonymous_A295A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,66:118:99:1521,0,1126:49:99:0.559 chr22 50303533 rs9616368 C G 308.54 PASS BaseQRankSum=0.292;DP=32;Dels=0.00;FS=3.247;HRun=0;HaplotypeScore=0.8941;MQ=57;MQ0=0;MQRankSum=1.226;QD=9.64;ReadPosRankSum=0.798;SB=-184.03;TI=NM_024105;GI=ALG12;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,12:32:99:339,0,508:57:99:0.375 chr22 50435480 rs5771069 A G 2003.90 PASS BaseQRankSum=1.420;DP=171;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2312;MQ=52;MQ0=0;MQRankSum=2.933;QD=11.72;ReadPosRankSum=-0.684;SB=-1406.57;TI=NM_001001694;GI=IL17REL;FC=Missense_L333P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:85,86:171:99:2034,0,2077:52:99:0.503 chr22 50439194 rs9617090 C T 2612.22 PASS BaseQRankSum=1.173;DP=233;Dels=0.00;FS=1.027;HRun=0;HaplotypeScore=11.9592;MQ=55;MQ0=0;MQRankSum=2.410;QD=11.21;ReadPosRankSum=-0.363;SB=-1494.11;TI=NM_001001694;GI=IL17REL;FC=Missense_G70R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:130,103:233:99:2642,0,3268:55:99:0.442 chr22 50657010 rs4838864 C G 4090.17 PASS DP=135;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.3209;MQ=55;MQ0=0;QD=30.30;SB=-2460.29;TI=NM_020461;GI=TUBGCP6;FC=Missense_V1621L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,135:135:99:4090,307,0:55:99:1.000 chr22 50962208 rs12148 T G 2897.04 PASS BaseQRankSum=2.338;DP=236;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6271;MQ=51;MQ0=0;MQRankSum=1.364;QD=12.28;ReadPosRankSum=1.571;SB=-1845.41;TI=NM_152299,NM_001185011,NM_001169111,NM_005138,NM_001169110,NM_001169109;GI=NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2;FC=Silent,Silent,Synonymous_A211A,Synonymous_A211A,Synonymous_A211A,Synonymous_A211A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:117,119:236:99:2927,0,2753:51:99:0.504 chr22 50962259 rs131811 G A 2260.83 PASS BaseQRankSum=1.278;DP=191;Dels=0.00;FS=1.147;HRun=0;HaplotypeScore=12.0835;MQ=53;MQ0=0;MQRankSum=-0.051;QD=11.84;ReadPosRankSum=-1.677;SB=-1511.91;TI=NM_152299,NM_001185011,NM_001169111,NM_005138,NM_001169110,NM_001169109;GI=NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2;FC=Silent,Silent,Synonymous_S194S,Synonymous_S194S,Synonymous_S194S,Synonymous_S194S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:96,94:191:99:2291,0,2444:53:99:0.495 chr22 50962782 rs140523 C G 1064.30 PASS BaseQRankSum=1.866;DP=101;Dels=0.00;FS=0.800;HRun=1;HaplotypeScore=0.8941;MQ=53;MQ0=0;MQRankSum=1.003;QD=10.54;ReadPosRankSum=-1.723;SB=-439.60;TI=NM_152299,NM_001185011,NM_001169111,NM_005138,NM_001169110,NM_001169109;GI=NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2;FC=Silent,Silent,Missense_R20P,Missense_R20P,Missense_R20P,Missense_R20P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:57,44:101:99:1094,0,1407:53:99:0.436 chr22 51009953 rs470117 C T 137.12 SB;LowDP BaseQRankSum=1.600;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=60;MQ0=0;MQRankSum=0.267;QD=9.79;ReadPosRankSum=-0.267;SB=-0.01;TI=NM_001145137,NM_152246,NM_004377,NM_001145134,NM_152245,NM_001145136,NM_001145135,NR_027928;GI=CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CPT1B,CHKB-CPT1B;FC=Missense_E531K,Missense_E531K,Missense_E531K,Missense_E497K,Missense_E531K,Missense_E450K,Missense_E531K,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:9,5:14:99:167,0,240:60:99:0.357 chr22 51020668 rs86337 C A 1451.98 PASS BaseQRankSum=0.734;DP=91;Dels=0.00;FS=3.000;HRun=1;HaplotypeScore=0.8667;MQ=55;MQ0=0;MQRankSum=0.816;QD=15.96;ReadPosRankSum=0.275;SB=-815.87;TI=NR_027928,NM_005198;GI=CHKB-CPT1B,CHKB;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,57:91:99:1482,0,744:55:99:0.626 chr22 51064039 rs743616 G C 2148.23 PASS BaseQRankSum=1.933;DP=191;Dels=0.00;FS=1.791;HRun=0;HaplotypeScore=10.3114;MQ=52;MQ0=0;MQRankSum=0.800;QD=11.25;ReadPosRankSum=-0.271;SB=-1465.48;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Missense_T307S,Missense_T393S,Missense_T393S,Missense_T393S,Missense_T393S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:97,94:191:99:2178,0,2261:52:99:0.492 chr22 51117580 rs9616915 T C 2274.83 PASS BaseQRankSum=0.641;DP=232;Dels=0.00;FS=3.786;HRun=1;HaplotypeScore=12.6804;MQ=54;MQ0=0;MQRankSum=1.884;QD=9.81;ReadPosRankSum=-2.508;SB=-1285.44;TI=NM_001080420;GI=SHANK3;FC=Missense_I245T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:136,95:232:99:2305,0,3249:54:99:0.411 chr22 51135983 . A G 35.00 LowGQX;LowGQ;SB;LowDP DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=30;MQ0=0;QD=17.50;SB=-0.01;TI=NM_001080420;GI=SHANK3;FC=Synonymous_R462R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,2:2:6.01:66,6,0:30:6:1.000 chr22 51135984 . G C 27.23 SB;LowDP BaseQRankSum=-0.736;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=32;MQ0=0;MQRankSum=-0.736;QD=9.08;ReadPosRankSum=0.736;SB=-0.01;TI=NM_001080420;GI=SHANK3;FC=Missense_A463P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,2:3:30.98:57,0,31:32:27:0.667 chr22 51135986 . T C 69.99 LowGQX;LowGQ;SB;LowDP DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9997;MQ=32;MQ0=0;QD=23.33;SB=-0.01;TI=NM_001080420;GI=SHANK3;FC=Synonymous_A463A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,3:3:9.02:102,9,0:32:9:1.000 chr22 51135989 . GTT G 152.50 LowGQ;LowDP DP=5;FS=0.000;HRun=2;HaplotypeScore=28.2685;MQ=45;MQ0=0;QD=30.50;SB=-64.24;TI=NM_001080420;GI=SHANK3;FC=Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,5:5:15.04:194,15,0:45:15:1.000 chr22 51153371 rs61729471 G A 1686.22 PASS BaseQRankSum=-1.221;DP=154;Dels=0.00;FS=4.963;HRun=0;HaplotypeScore=5.5180;MQ=55;MQ0=0;MQRankSum=-0.195;QD=10.95;ReadPosRankSum=-0.228;SB=-1075.25;TI=NM_001080420;GI=SHANK3;FC=Missense_A737T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:77,77:154:99:1716,0,1892:55:99:0.500 chrX 2852915 rs11055 C T 2165.98 PASS DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=53;MQ0=0;QD=31.85;SB=-1230.67;TI=NM_000047;GI=ARSE;FC=Synonymous_P576P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,68:68:99:2199,166,0:53:99:1.000 chrX 2852951 rs11222;rs74787451 G A 3040.33 PASS DP=99;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4702;MQ=55;MQ0=0;QD=30.71;SB=-1866.78;TI=NM_000047;GI=ARSE;FC=Synonymous_N564N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,99:99:99:3073,226,0:55:99:1.000 chrX 2856155 rs35143646 C T 2400.61 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7502;MQ=53;MQ0=0;QD=29.64;SB=-1148.92;TI=NM_000047;GI=ARSE;FC=Missense_G424S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2434,178,0:53:99:1.000 chrX 3002520 . C A 2469.49 PASS BaseQRankSum=1.754;DP=85;Dels=0.00;FS=3.060;HRun=0;HaplotypeScore=8.5218;MQ=55;MQ0=0;MQRankSum=0.217;QD=29.05;ReadPosRankSum=1.667;SB=-1541.73;TI=NM_004042;GI=ARSF;FC=Missense_P215T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,83:85:99:2502,119,0:55:99:0.976 chrX 6451856 rs75344159 A G 497.57 PASS BaseQRankSum=-1.850;DP=171;Dels=0.00;FS=9.052;HRun=1;HaplotypeScore=53.2117;MQ=25;MQ0=72;MQRankSum=1.462;QD=2.91;ReadPosRankSum=-0.617;SB=-184.97;TI=NM_016379;GI=VCX3A;FC=Missense_L164P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:132,35:171:99:528,0,985:25:99:0.210 chrX 6451864 rs708469 C T 319.13 PASS BaseQRankSum=0.569;DP=177;Dels=0.00;FS=1.123;HRun=1;HaplotypeScore=78.8007;MQ=24;MQ0=80;MQRankSum=-1.566;QD=1.80;ReadPosRankSum=-1.013;SB=-201.61;TI=NM_016379;GI=VCX3A;FC=Synonymous_E161E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,39:177:99:349,0,1047:24:99:0.232 chrX 6451869 rs35874450;rs76464680 C T 171.45 LowVariantFreq BaseQRankSum=-1.541;DP=175;Dels=0.00;FS=4.685;HRun=0;HaplotypeScore=55.7140;MQ=23;MQ0=85;MQRankSum=-1.844;QD=0.98;ReadPosRankSum=-2.061;SB=-65.20;TI=NM_016379;GI=VCX3A;FC=Missense_V160M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:140,34:175:99:201,0,1257:23:99:0.195 chrX 6451872 rs77148209 C G 394.13 PASS BaseQRankSum=-0.742;DP=176;Dels=0.00;FS=11.895;HRun=1;HaplotypeScore=60.2967;MQ=23;MQ0=86;MQRankSum=0.812;QD=2.24;ReadPosRankSum=-0.386;SB=-177.91;TI=NM_016379;GI=VCX3A;FC=Missense_E159Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:135,40:176:99:424,0,1041:23:99:0.229 chrX 6451894 . C T 135.13 LowVariantFreq BaseQRankSum=-0.443;DP=181;Dels=0.00;FS=12.073;HRun=1;HaplotypeScore=66.0123;MQ=20;MQ0=105;MQRankSum=-0.192;QD=0.75;ReadPosRankSum=-3.033;SB=-56.11;TI=NM_016379;GI=VCX3A;FC=Synonymous_E151E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:157,18:181:99:165,0,783:20:99:0.103 chrX 6451899 . C T 37.59 LowVariantFreq;SB BaseQRankSum=-1.632;DP=179;Dels=0.00;FS=7.793;HRun=0;HaplotypeScore=64.5802;MQ=19;MQ0=107;MQRankSum=-1.832;QD=0.21;ReadPosRankSum=-2.677;SB=-0.01;TI=NM_016379;GI=VCX3A;FC=Missense_V150M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:161,15:179:67.58:68,0,804:19:38:0.085 chrX 6451902 . G C 298.61 LowVariantFreq BaseQRankSum=-0.856;DP=180;Dels=0.00;FS=34.420;HRun=0;HaplotypeScore=64.7405;MQ=19;MQ0=108;MQRankSum=-0.204;QD=1.66;ReadPosRankSum=-2.369;SB=-53.98;TI=NM_016379;GI=VCX3A;FC=Missense_Q149E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:145,33:180:99:329,0,505:19:99:0.185 chrX 6451924 . T C 41.42 LowVariantFreq BaseQRankSum=-1.972;DP=193;Dels=0.00;FS=7.782;HRun=1;HaplotypeScore=57.4181;MQ=16;MQ0=130;MQRankSum=-0.158;QD=0.21;ReadPosRankSum=-0.742;SB=-39.32;TI=NM_016379;GI=VCX3A;FC=Synonymous_E141E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:161,28:193:71.41:71,0,726:16:41:0.148 chrX 6451929 rs1058255;rs72609545 C T 80.89 LowVariantFreq;SB BaseQRankSum=-1.030;DP=194;Dels=0.00;FS=5.281;HRun=0;HaplotypeScore=49.5895;MQ=16;MQ0=131;MQRankSum=-1.633;QD=0.42;ReadPosRankSum=-0.796;SB=-0.01;TI=NM_016379;GI=VCX3A;FC=Missense_V140M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:167,23:194:99:111,0,703:16:81:0.121 chrX 6451984 . T C 27.87 LowVariantFreq;SB BaseQRankSum=-1.413;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=21.8013;MQ=14;MQ0=132;MQRankSum=-0.218;QD=0.15;ReadPosRankSum=1.712;SB=-0.01;TI=NM_016379;GI=VCX3A;FC=Synonymous_E121E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:180,9:189:57.86:58,0,1014:14:28:0.048 chrX 6451989 . C T 3.95 LowGQX;LowVariantFreq;SB BaseQRankSum=-2.184;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.0473;MQ=14;MQ0=132;MQRankSum=2.033;QD=0.02;ReadPosRankSum=-1.275;SB=-0.01;TI=NM_016379;GI=VCX3A;FC=Missense_V120M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:175,11:188:31.70:32,0,922:14:4:0.059 chrX 6452014 . C T 8.27 LowGQX;LowVariantFreq;SB BaseQRankSum=-1.350;DP=154;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7426;MQ=13;MQ0=114;MQRankSum=1.513;QD=0.05;ReadPosRankSum=-1.513;SB=-0.01;TI=NM_016379;GI=VCX3A;FC=Synonymous_E111E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:149,5:154:37.57:38,0,782:13:8:0.032 chrX 6452019 . G T 18.86 LowVariantFreq;SB BaseQRankSum=-0.579;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7341;MQ=13;MQ0=110;MQRankSum=0.965;QD=0.13;ReadPosRankSum=-0.855;SB=-0.01;TI=NM_016379;GI=VCX3A;FC=Missense_L110M;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:139,4:146:48.79:49,0,624:13:19:0.028 chrX 9660149 rs7057012 G T 1848.58 PASS DP=65;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=55;MQ0=0;QD=28.44;SB=-1035.02;TI=NM_001139468,NM_001139466,NM_001139467,NM_005647;GI=TBL1X,TBL1X,TBL1X,TBL1X;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,65:65:99:1882,138,0:55:99:1.000 chrX 9660150 rs7062490 T C 1899.58 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=55;MQ0=0;QD=29.68;SB=-1007.50;TI=NM_001139468,NM_001139466,NM_001139467,NM_005647;GI=TBL1X,TBL1X,TBL1X,TBL1X;FC=Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1933,141,0:55:99:1.000 chrX 9660156 rs7062597 T C 1909.36 PASS DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=55;MQ0=0;QD=29.83;SB=-1001.75;TI=NM_001139468,NM_001139466,NM_001139467,NM_005647;GI=TBL1X,TBL1X,TBL1X,TBL1X;FC=Synonymous_S200S,Synonymous_S251S,Synonymous_S200S,Synonymous_S251S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:1942,144,0:55:99:1.000 chrX 9682977 . C T 1356.39 PASS DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=55;MQ0=0;QD=26.08;SB=-853.76;TI=NM_001139468,NM_001139466,NM_001139467,NM_005647;GI=TBL1X,TBL1X,TBL1X,TBL1X;FC=Synonymous_G496G,Synonymous_G547G,Synonymous_G496G,Synonymous_G547G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,52:52:99:1389,99,0:55:99:1.000 chrX 10437792 rs16986145 G A 1753.98 PASS BaseQRankSum=1.275;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;MQRankSum=-1.405;QD=33.09;ReadPosRankSum=-1.340;SB=-321.83;TI=NM_001193277,NM_033289,NM_000381,NM_001098624,NM_033290,NM_001193279,NM_001193278,NM_001193280;GI=MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1;FC=Synonymous_S410S,Synonymous_S372S,Synonymous_S410S,Synonymous_S410S,Synonymous_S410S,Synonymous_S410S,Synonymous_S461S,Synonymous_S372S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,52:53:98.44:1787,98,0:59:98:0.981 chrX 10474513 rs7065297 C T 1222.87 PASS DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=31.36;SB=-436.16;TI=NM_001193277,NM_033289,NM_000381,NM_001098624,NM_033290,NM_001193279,NM_001193278,NM_001193280,NM_001193281;GI=MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V219I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,39:39:93.31:1256,93,0:57:93:1.000 chrX 10491233 . CA CAA,C 243.08 PASS BaseQRankSum=-0.221;DP=32;FS=2.176;HaplotypeScore=216.0537;MQ=47;MQ0=0;MQRankSum=0.538;QD=7.60;ReadPosRankSum=0.854;SB=-151.37;TI=NM_001193277,NM_033289,NM_000381,NM_001098624,NM_033290,NM_001193279,NM_001193278,NM_001193280,NM_001193281;GI=MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1,MID1;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:14,1,8:32:99:321,176,300,157,0,283:47:99:0.391 chrX 12708373 rs7049642 C G 1371.63 PASS DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=52;MQ0=0;QD=27.43;SB=-954.16;TI=NM_014728;GI=FRMPD4;FC=Synonymous_L247L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,49:50:99:1405,99,0:52:99:1.000 chrX 12725042 . C CT 91.66 LowGQ;R8 BaseQRankSum=-1.171;DP=22;FS=2.029;HRun=18;HaplotypeScore=119.4523;MQ=43;MQ0=0;MQRankSum=-0.140;QD=4.17;ReadPosRankSum=-1.452;SB=-35.92;TI=NM_014728;GI=FRMPD4;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,11:22:18.49:131,0,18:43:18:0.647 chrX 12734585 rs67823099 T C 4124.29 PASS DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8561;MQ=54;MQ0=0;QD=30.55;SB=-2170.66;TI=NM_014728;GI=FRMPD4;FC=Synonymous_L669L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,135:135:99:4124,307,0:54:99:1.000 chrX 12906714 rs5741881 A G 1976.78 PASS DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7554;MQ=55;MQ0=0;QD=30.89;SB=-721.45;TI=NM_016562;GI=TLR7;FC=Synonymous_L1029L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,64:64:99:2010,150,0:55:99:1.000 chrX 12937237 rs5744078 C T 2628.25 PASS DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6381;MQ=56;MQ0=0;QD=27.38;SB=-1653.79;TI=NR_030727,NM_138636;GI=LOC349408,TLR8;FC=Silent,Synonymous_A26A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:96:99:2661,193,0:56:99:1.000 chrX 12937804 rs5744080 C T 3031.06 PASS DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59;MQ0=0;QD=32.59;SB=-1776.17;TI=NR_030727,NM_138636;GI=LOC349408,TLR8;FC=Silent,Synonymous_H215H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:93:99:3064,229,0:59:99:1.000 chrX 12938471 rs5744081 C A 1913.81 PASS BaseQRankSum=1.263;DP=59;Dels=0.00;FS=4.017;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=0.793;QD=32.44;ReadPosRankSum=-0.558;SB=-808.14;TI=NR_030727,NM_138636;GI=LOC349408,TLR8;FC=Silent,Synonymous_R438R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,58:59:99:1947,122,0:57:99:0.983 chrX 12939112 rs2407992 G C 2201.13 PASS DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=31.90;SB=-1136.74;TI=NR_030727,NM_138636;GI=LOC349408,TLR8;FC=Silent,Synonymous_L651L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,69:69:99:2234,169,0:56:99:1.000 chrX 12939928 rs2109135 T C 1537.51 PASS DP=50;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.5697;MQ=57;MQ0=0;QD=30.75;SB=-909.12;TI=NR_030727,NM_138636;GI=LOC349408,TLR8;FC=Silent,Synonymous_D923D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,50:50:99:1571,114,0:57:99:1.000 chrX 13337059 rs4830842 C T 2814.80 PASS DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=31.28;SB=-1252.21;TI=NM_001135995;GI=ATXN3L;FC=Missense_G332D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2848,211,0:56:99:1.000 chrX 13337258 rs16999010 G A 3555.37 PASS DP=109;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.4156;MQ=59;MQ0=0;QD=32.62;SB=-2034.48;TI=NM_001135995;GI=ATXN3L;FC=Missense_L266F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:109:99:3555,265,0:59:99:1.000 chrX 14868806 rs2905223 A G 1542.42 PASS BaseQRankSum=3.044;DP=67;Dels=0.00;FS=3.005;HRun=0;HaplotypeScore=15.1398;MQ=55;MQ0=0;MQRankSum=1.609;QD=23.02;ReadPosRankSum=0.666;SB=-1016.20;TI=NM_001018113,NM_152633;GI=FANCB,FANCB;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:7,60:67:35.27:1575,35,0:55:35:0.896 chrX 18660122 . C A 1987.86 PASS DP=80;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6548;MQ=53;MQ0=0;QD=24.85;SB=-1400.09;TI=NM_003159,NM_001037343,NM_000330;GI=CDKL5,CDKL5,RS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2021,141,0:53:99:1.000 chrX 19380975 . TA T 285.82 R8;SB BaseQRankSum=0.216;DP=73;FS=8.755;HRun=17;HaplotypeScore=383.7371;MQ=48;MQ0=0;MQRankSum=0.731;QD=3.92;ReadPosRankSum=2.930;SB=-0.00;TI=NM_001001671;GI=MAP3K15;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,20:73:99:325,0,591:48:99:0.317 chrX 19389184 . TA T 95.94 R8 BaseQRankSum=-1.303;DP=24;FS=0.000;HRun=14;HaplotypeScore=101.7168;MQ=53;MQ0=0;MQRankSum=0.367;QD=4.00;ReadPosRankSum=0.301;SB=-53.95;TI=NM_001001671;GI=MAP3K15;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:17,7:24:99:135,0,99:53:96:0.292 chrX 19482476 rs5909299 C T 3133.21 PASS DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4279;MQ=52;MQ0=0;QD=26.33;SB=-2201.76;TI=NM_001001671;GI=MAP3K15;FC=Missense_A192T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,118:119:99:3166,226,0:52:99:1.000 chrX 19533315 . C A 6.77 LowGQX;LowDP BaseQRankSum=0.720;DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=37;MQ0=0;MQRankSum=0.000;QD=1.13;ReadPosRankSum=-1.380;SB=-30.98;TI=NM_001001671;GI=MAP3K15;FC=Missense_C22F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:4,2:6:35.74:36,0,81:37:7:0.333 chrX 19533339 . C A 4.59 LowGQX;LowDP BaseQRankSum=0.000;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37;MQ0=0;MQRankSum=0.572;QD=0.57;ReadPosRankSum=-0.572;SB=-27.97;TI=NM_001001671;GI=MAP3K15;FC=Missense_G14V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,2:8:32.73:33,0,122:37:5:0.250 chrX 23398214 rs5926304 T C 1390.95 PASS DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=32.35;SB=-559.85;TI=NM_173495;GI=PTCHD1;FC=Synonymous_C286C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,43:43:99:1424,105,0:57:99:1.000 chrX 25025355 . A AGGC 581.71 LowDP DP=14;FS=0.000;HRun=0;HaplotypeScore=13.9558;MQ=55;MQ0=0;QD=41.55;SB=-103.96;TI=NM_139058;GI=ARX;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,12:14:36.12:624,36,0:55:36:1.000 chrX 25031714 . G C 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_139058;GI=ARX;FC=Missense_A133G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chrX 25031717 . G C 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_139058;GI=ARX;FC=Missense_T132S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chrX 25031719 . T C 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_139058;GI=ARX;FC=Synonymous_P131P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chrX 25031725 . T G 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_139058;GI=ARX;FC=Synonymous_P129P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chrX 25031734 . A C 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_139058;GI=ARX;FC=Synonymous_P126P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chrX 31089930 rs438870 C T 3654.21 PASS BaseQRankSum=0.859;DP=127;Dels=0.00;FS=3.261;HRun=0;HaplotypeScore=2.7861;MQ=53;MQ0=0;MQRankSum=0.286;QD=28.77;ReadPosRankSum=-1.050;SB=-2267.57;TI=NM_031894;GI=FTHL17;FC=Synonymous_V47V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,126:127:99:3654,236,0:53:99:0.992 chrX 31496350 rs1800280 C T 2089.28 PASS DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.12;SB=-1462.45;TI=NM_004014,NM_004020,NM_004023,NM_004022,NM_004013,NM_004021,NM_004012,NM_004011,NM_004007,NM_004010,NM_004009,NM_004006,NM_000109;GI=DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD;FC=Missense_R208Q,Missense_R477Q,Missense_R477Q,Missense_R477Q,Missense_R477Q,Missense_R477Q,Missense_R1593Q,Missense_R1596Q,Missense_R2814Q,Missense_R2814Q,Missense_R2933Q,Missense_R2937Q,Missense_R2929Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,80:80:99:2122,150,0:53:99:1.000 chrX 31676096 rs2270672 G A 523.85 LowDP DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59;MQ0=0;QD=29.10;SB=-196.02;TI=NM_004020,NM_004023,NM_004022,NM_004013,NM_004021,NM_004012,NM_004011,NM_004007,NM_004010,NM_004009,NM_004006,NM_000109;GI=DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD,DMD;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,18:18:42.13:557,42,0:59:42:1.000 chrX 32380996 rs1801187 C T 4272.82 PASS DP=145;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=55;MQ0=0;QD=29.47;SB=-2434.71;TI=NM_004012,NM_004011,NM_004007,NM_004010,NM_004009,NM_004006,NM_000109;GI=DMD,DMD,DMD,DMD,DMD,DMD,DMD;FC=Missense_R401H,Missense_R404H,Missense_R1622H,Missense_R1622H,Missense_R1741H,Missense_R1745H,Missense_R1737H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,145:145:99:4273,310,0:55:99:1.000 chrX 32503194 rs228406 T C 4066.52 PASS DP=130;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.7616;MQ=57;MQ0=0;QD=31.28;SB=-2049.04;TI=NM_004007,NM_004010,NM_004009,NM_004006,NM_000109;GI=DMD,DMD,DMD,DMD,DMD;FC=Missense_D759G,Missense_D759G,Missense_D878G,Missense_D882G,Missense_D874G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,128:130:99:4067,301,0:57:99:1.000 chrX 37932886 rs4827330 A G 1319.49 PASS DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=25.87;SB=-902.69;TI=NM_138780,NM_001163335,NM_001163334;GI=SYTL5,SYTL5,SYTL5;FC=Synonymous_A163A,Synonymous_A163A,Synonymous_A163A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:96.32:1352,96,0:51:96:1.000 chrX 37948832 rs4827331 A G 3329.54 PASS BaseQRankSum=0.706;DP=121;Dels=0.00;FS=2.379;HRun=0;HaplotypeScore=3.6756;MQ=54;MQ0=0;MQRankSum=1.983;QD=27.52;ReadPosRankSum=-2.135;SB=-1900.87;TI=NM_138780,NM_001163335,NM_001163334;GI=SYTL5,SYTL5,SYTL5;FC=Missense_I275V,Missense_I275V,Missense_I275V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,117:121:99:3330,167,0:54:99:0.975 chrX 37967868 rs5918476 T C 1131.01 PASS DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=28.28;SB=-710.19;TI=NM_138780,NM_001163335,NM_001163334;GI=SYTL5,SYTL5,SYTL5;FC=Synonymous_Y450Y,Synonymous_Y450Y,Synonymous_Y472Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,40:40:84.27:1164,84,0:57:84:1.000 chrX 37981474 rs56406900 T A 2853.32 PASS DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54;MQ0=0;QD=27.17;SB=-1716.73;TI=NM_138780,NM_001163335,NM_001163334;GI=SYTL5,SYTL5,SYTL5;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,105:105:99:2886,205,0:54:99:1.000 chrX 38145198 . T C 4.11 LowGQX;LowVariantFreq;SB;LowDP BaseQRankSum=0.255;DP=15;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=13.6038;MQ=48;MQ0=0;MQRankSum=0.594;QD=0.27;ReadPosRankSum=0.085;SB=-0.01;TI=NM_000328,NM_001034853;GI=RPGR,RPGR;FC=Silent,Synonymous_E1018E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:13,2:15:31.97:32,0,343:48:4:0.133 chrX 38145385 . T C 8.07 LowGQX;SB;LowDP BaseQRankSum=-1.231;DP=5;Dels=0.00;FS=3.979;HRun=5;HaplotypeScore=14.9306;MQ=37;MQ0=0;MQRankSum=-1.231;QD=1.61;ReadPosRankSum=0.358;SB=0.01;TI=NM_000328,NM_001034853;GI=RPGR,RPGR;FC=Silent,Missense_E956G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,2:5:37.33:37,0,86:37:8:0.400 chrX 38145389 . A C 27.86 SB;LowDP BaseQRankSum=-0.358;DP=5;Dels=0.00;FS=4.771;HRun=3;HaplotypeScore=13.0354;MQ=37;MQ0=0;MQRankSum=-1.231;QD=5.57;ReadPosRankSum=0.358;SB=-1.26;TI=NM_000328,NM_001034853;GI=RPGR,RPGR;FC=Silent,Missense_W955G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,3:5:31.62:58,0,32:37:28:0.600 chrX 38145646 . T C 22.99 LowDP BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.4096;MQ=29;MQ0=0;MQRankSum=0.358;QD=4.60;ReadPosRankSum=0.358;SB=-25.55;TI=NM_000328,NM_001034853;GI=RPGR,RPGR;FC=Silent,Missense_E869G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,2:5:47.09:53,0,47:29:23:0.400 chrX 38145663 . T C 24.87 LowDP BaseQRankSum=1.231;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.2959;MQ=29;MQ0=0;MQRankSum=1.231;QD=4.97;ReadPosRankSum=1.231;SB=-24.43;TI=NM_000328,NM_001034853;GI=RPGR,RPGR;FC=Silent,Synonymous_E863E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,2:5:39.35:55,0,39:29:25:0.400 chrX 38145667 . C T 14.28 LowDP BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.1829;MQ=29;MQ0=0;MQRankSum=1.231;QD=2.86;ReadPosRankSum=-1.231;SB=-13.69;TI=NM_000328,NM_001034853;GI=RPGR,RPGR;FC=Silent,Missense_G862E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,2:5:44.11:44,0,68:29:14:0.400 chrX 38145694 . T C 15.24 SB;LowDP BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=10.1465;MQ=29;MQ0=0;MQRankSum=0.000;QD=3.81;ReadPosRankSum=0.000;SB=0.00;TI=NM_000328,NM_001034853;GI=RPGR,RPGR;FC=Silent,Missense_E853G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:45.10:45,0,55:29:15:0.500 chrX 38145760 . T C 22.03 SB;LowDP BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=4.771;HRun=2;HaplotypeScore=4.6558;MQ=29;MQ0=0;MQRankSum=1.026;QD=5.51;ReadPosRankSum=1.026;SB=-1.25;TI=NM_000328,NM_001034853;GI=RPGR,RPGR;FC=Silent,Missense_E831G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:2,2:4:51.99:52,0,55:29:22:0.500 chrX 38176636 rs5963403 C A 2850.60 PASS BaseQRankSum=0.889;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5981;MQ=56;MQ0=0;MQRankSum=-1.482;QD=25.68;ReadPosRankSum=0.265;SB=-2042.47;TI=NM_000328,NM_001034853;GI=RPGR,RPGR;FC=Missense_Q184H,Missense_Q184H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,110:111:99:2884,171,0:56:99:0.991 chrX 38226603 rs1800321 A G 2357.70 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54;MQ0=0;QD=25.08;SB=-1670.91;TI=NM_000531;GI=OTC;FC=Missense_K46R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,94:94:99:2391,169,0:54:99:1.000 chrX 38525530 rs7049247 T C 4132.98 PASS BaseQRankSum=-0.332;DP=141;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9964;MQ=56;MQ0=0;MQRankSum=0.651;QD=29.31;ReadPosRankSum=-0.184;SB=-2447.00;TI=NM_004615;GI=TSPAN7;FC=Synonymous_A79A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,140:141:99:4133,266,0:56:99:0.993 chrX 39932907 rs6520618 T C 3410.30 PASS DP=101;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.9875;MQ=56;MQ0=0;QD=33.77;SB=-1857.69;TI=NM_017745,NM_001123385,NM_001123383,NM_001123384;GI=BCOR,BCOR,BCOR,BCOR;FC=Synonymous_A564A,Synonymous_A564A,Synonymous_A564A,Synonymous_A564A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,101:101:99:3410,256,0:56:99:1.000 chrX 39933339 rs5917933 A G 6203.70 PASS DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=55;MQ0=0;QD=30.86;SB=-3331.60;TI=NM_017745,NM_001123385,NM_001123383,NM_001123384;GI=BCOR,BCOR,BCOR,BCOR;FC=Synonymous_D420D,Synonymous_D420D,Synonymous_D420D,Synonymous_D420D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,201:201:99:6204,451,0:55:99:1.000 chrX 41056606 . G C 98.25 SB BaseQRankSum=-3.437;DP=34;Dels=0.03;FS=12.709;HRun=6;HaplotypeScore=14.7258;MQ=45;MQ0=0;MQRankSum=-2.263;QD=2.89;ReadPosRankSum=-2.682;SB=-0.01;TI=NM_001039590,NM_001039591;GI=USP9X,USP9X;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,9:33:99:128,0,701:45:98:0.281 chrX 41383297 . GA G 164.65 R8 BaseQRankSum=-0.356;DP=31;FS=0.000;HRun=14;HaplotypeScore=70.9349;MQ=55;MQ0=0;MQRankSum=-0.082;QD=5.31;ReadPosRankSum=0.684;SB=-90.94;TI=NM_001126055,NM_001126054,NM_003688;GI=CASK,CASK,CASK;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:18,11:31:99:204,0,231:55:99:0.379 chrX 44094685 rs2208592 G T 1325.17 PASS DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=25.98;SB=-917.09;TI=NM_025184;GI=EFHC2;FC=Missense_S430Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,51:51:96.32:1358,96,0:58:96:1.000 chrX 44171953 rs17146914 T C 2418.81 PASS DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53;MQ0=0;QD=26.29;SB=-1698.38;TI=NM_025184;GI=EFHC2;FC=Missense_N31S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:99:2452,175,0:53:99:1.000 chrX 44938563 rs20539 G A 4269.82 PASS BaseQRankSum=0.561;DP=142;Dels=0.00;FS=3.461;HRun=1;HaplotypeScore=0.0000;MQ=57;MQ0=0;MQRankSum=1.708;QD=30.07;ReadPosRankSum=-0.903;SB=-2483.87;TI=NM_021140;GI=KDM6A;FC=Synonymous_Q1037Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,141:142:99:4270,283,0:57:99:0.993 chrX 47004924 . C G 4.59 LowGQX;LowDP BaseQRankSum=-1.537;DP=7;Dels=0.00;FS=3.979;HRun=4;HaplotypeScore=1.8939;MQ=54;MQ0=0;MQRankSum=-0.988;QD=0.66;ReadPosRankSum=-0.988;SB=-25.76;TI=NM_005676,NM_152856;GI=RBM10,RBM10;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:3,3:7:32.73:33,0,110:54:5:0.500 chrX 47061018 rs4239964 C G 1930.59 PASS DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=55;MQ0=0;QD=30.64;SB=-787.10;TI=NM_153280,NM_003334;GI=UBA1,UBA1;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,63:63:99:1964,144,0:55:99:1.000 chrX 48382174 rs3048 G T 1208.93 PASS DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7440;MQ=53;MQ0=0;QD=29.49;SB=-381.49;TI=NM_006579;GI=EBP;FC=Synonymous_A5A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,41:41:93.29:1242,93,0:53:93:1.000 chrX 48460314 rs235842 A G 2457.32 PASS DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=56;MQ0=0;QD=33.21;SB=-591.53;TI=NR_029427,NM_017883,NM_001166426;GI=WDR13,WDR13,WDR13;FC=Silent,Missense_H325R,Missense_H233R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,74:74:99:2490,190,0:56:99:1.000 chrX 48759204 rs741932 C T 3553.62 PASS DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5924;MQ=53;MQ0=0;QD=26.52;SB=-1972.97;TI=NM_144495,NM_001032383,NM_001032381,NM_001032382,NM_001167989,NM_001167990,NM_005710,NM_001032384,NM_001167992;GI=PQBP1,PQBP1,PQBP1,PQBP1,PQBP1,PQBP1,PQBP1,PQBP1,PQBP1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,134:134:99:3554,253,0:53:99:1.000 chrX 49071964 rs2075866 A G 1272.32 PASS DP=43;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=29.59;SB=-506.63;TI=NM_005183;GI=CACNA1F;FC=Synonymous_H1103H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,43:43:96.31:1305,96,0:50:96:1.000 chrX 49081291 rs2235127 G A 1194.97 PASS DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9997;MQ=52;MQ0=0;QD=25.42;SB=-794.37;TI=NM_005183;GI=CACNA1F;FC=Synonymous_G614G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,47:47:87.29:1228,87,0:52:87:1.000 chrX 49084492 rs6609854 C T 923.24 PASS DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=0;QD=27.15;SB=-576.06;TI=NM_005183;GI=CACNA1F;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,34:34:69.23:956,69,0:55:69:1.000 chrX 49103224 rs2294020 G A 706.62 PASS DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=56;MQ0=0;QD=30.72;SB=-281.92;TI=NM_014008;GI=CCDC22;FC=Synonymous_Q249Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,23:23:54.18:740,54,0:56:54:1.000 chrX 50334694 . TTTTCTTTC T 1476.48 R8 DP=28;FS=0.000;HRun=0;HaplotypeScore=35.9314;MQ=42;MQ0=0;QD=52.73;SB=-676.93;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:12,16:28:51.17:1519,51,0:42:51:0.571 chrX 50334780 rs5915276 T C 815.72 PASS DP=23;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52;MQ0=0;QD=35.47;SB=-417.62;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,23:23:66.21:849,66,0:52:66:1.000 chrX 50335008 rs2873098 T C 3144.66 PASS BaseQRankSum=1.091;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5212;MQ=55;MQ0=0;MQRankSum=0.802;QD=29.12;ReadPosRankSum=1.411;SB=-1700.21;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,107:108:99:3178,198,0:55:99:0.991 chrX 52825546 rs2806838 C G 5507.27 PASS DP=183;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5447;MQ=54;MQ0=0;QD=30.09;SB=-2832.17;TI=NM_001009616;GI=SPANXN5;FC=Synonymous_L67L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,183:183:99:5507,400,0:54:99:1.000 chrX 53228148 rs1977364 C A 2291.10 PASS DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=57;MQ0=0;QD=32.73;SB=-965.52;TI=NM_001146702,NM_004187;GI=KDM5C,KDM5C;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,70:70:99:2324,175,0:57:99:1.000 chrX 53263549 . A G 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_015075,NM_001111125;GI=IQSEC2,IQSEC2;FC=Silent,Missense_L1440P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chrX 53263562 . A G 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_015075,NM_001111125;GI=IQSEC2,IQSEC2;FC=Silent,Missense_S1436P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chrX 53263583 . A G 5.06 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29;MQ0=0;QD=5.06;SB=-0.01;TI=NM_015075,NM_001111125;GI=IQSEC2,IQSEC2;FC=Silent,Missense_S1429P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:33,3,0:29:3:1.000 chrX 53263739 . G A 4.59 LowGQX;LowDP BaseQRankSum=1.495;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=51;MQ0=0;MQRankSum=-0.922;QD=0.66;ReadPosRankSum=-1.495;SB=-30.98;TI=NM_015075,NM_001111125;GI=IQSEC2,IQSEC2;FC=Silent,Missense_H1377Y;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:5,2:7:32.73:33,0,104:51:5:0.286 chrX 53264304 . C G 60.51 LowVariantFreq;SB BaseQRankSum=-2.881;DP=67;Dels=0.00;FS=26.630;HRun=2;HaplotypeScore=63.9576;MQ=44;MQ0=0;MQRankSum=-3.896;QD=0.90;ReadPosRankSum=-0.817;SB=-0.01;TI=NM_015075,NM_001111125;GI=IQSEC2,IQSEC2;FC=Silent,Synonymous_P1188P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,12:67:90.50:91,0,1261:44:61:0.188 chrX 53264307 . C G 101.73 SB BaseQRankSum=-4.443;DP=63;Dels=0.00;FS=34.377;HRun=5;HaplotypeScore=65.7110;MQ=43;MQ0=0;MQRankSum=-4.535;QD=1.61;ReadPosRankSum=-0.061;SB=-0.01;TI=NM_015075,NM_001111125;GI=IQSEC2,IQSEC2;FC=Silent,Synonymous_P1187P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:43,19:63:99:132,0,1214:43:99:0.306 chrX 53563589 rs426298 A G 1409.04 PASS DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8937;MQ=59;MQ0=0;QD=31.31;SB=-391.14;TI=NM_031407;GI=HUWE1;FC=Synonymous_G4059G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,45:45:99:1442,105,0:59:99:1.000 chrX 53641647 rs6638360 T C 1252.54 PASS DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8914;MQ=55;MQ0=0;QD=29.82;SB=-837.73;TI=NM_031407;GI=HUWE1;FC=Synonymous_S703S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,42:42:93.30:1286,93,0:55:93:1.000 chrX 54800637 . CAAA C 232.69 R8 BaseQRankSum=-0.673;DP=39;FS=1.657;HRun=18;HaplotypeScore=127.9171;MQ=52;MQ0=0;MQRankSum=1.613;QD=5.97;ReadPosRankSum=0.204;SB=-106.42;TI=NM_198510;GI=ITIH5L;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,5:39:99:272,0,521:52:99:0.263 chrX 57405163 rs4826543 T C 3780.03 PASS DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5996;MQ=54;MQ0=0;QD=28.86;SB=-2184.85;TI=NM_174912;GI=FAAH2;FC=Synonymous_R274R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:131:99:3780,274,0:54:99:1.000 chrX 57475132 rs1367830 T C 1340.71 PASS DP=48;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=27.93;SB=-702.62;TI=NM_174912;GI=FAAH2;FC=Synonymous_P468P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,48:48:99:1374,102,0:55:99:1.000 chrX 65822607 rs1385698 T C 2329.39 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5463;MQ=54;MQ0=0;QD=26.17;SB=-1506.94;TI=NM_001199689,NM_021783,NM_001199688,NM_001199687;GI=EDA2R,EDA2R,EDA2R,EDA2R;FC=Missense_T129A,Missense_T129A,Missense_T129A,Missense_T129A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2362,169,0:54:99:1.000 chrX 65824986 rs1385699 C T 4751.10 PASS DP=171;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9995;MQ=53;MQ0=0;QD=27.78;SB=-3353.65;TI=NM_001199689,NM_021783,NM_001199688,NM_001199687;GI=EDA2R,EDA2R,EDA2R,EDA2R;FC=Missense_R57K,Missense_R57K,Missense_R57K,Missense_R57K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,171:171:99:4751,337,0:53:99:1.000 chrX 66765158 . TGCA T 1483.82 R8 DP=62;FS=0.000;HRun=0;HaplotypeScore=68.2074;MQ=58;MQ0=0;QD=23.93;SB=-437.37;TI=NM_000044;GI=AR;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:29,29:62:99:1526,105,0:58:99:0.500 chrX 66766389 . C A 11.01 LowGQX;LowGQ;SB;LowDP DP=1;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=11.01;SB=-0.01;TI=NM_000044;GI=AR;FC=Synonymous_G467G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,1:1:3.01:41,3,0:60:3:1.000 chrX 68890047 . C T 29.92 SB;LowDP BaseQRankSum=-0.731;DP=11;Dels=0.09;FS=3.332;HRun=19;HaplotypeScore=5.9265;MQ=43;MQ0=0;MQRankSum=-0.895;QD=2.72;ReadPosRankSum=-1.386;SB=-0.01;TI=NM_001005613,NM_001005610,NM_001005609,NM_001399,NM_001005612;GI=EDA,EDA,EDA,EDA,EDA;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,3:10:59.91:60,0,153:43:30:0.300 chrX 70586348 . A G 36.12 LowDP BaseQRankSum=-1.713;DP=19;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=8.1067;MQ=48;MQ0=0;MQRankSum=-2.453;QD=1.90;ReadPosRankSum=0.417;SB=-29.85;TI=NR_001568,NM_004606,NM_138923;GI=BCYRN1,TAF1,TAF1;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:14,5:19:66.11:66,0,408:48:36:0.263 chrX 73042316 rs16992436 T C 2944.34 PASS BaseQRankSum=-1.347;DP=92;Dels=0.00;FS=3.108;HRun=0;HaplotypeScore=3.7472;MQ=56;MQ0=0;MQRankSum=0.693;QD=32.00;ReadPosRankSum=0.577;SB=-1657.11;TI=NR_003255,NR_001564;GI=TSIX,XIST;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,89:92:99:2977,188,0:56:99:0.989 chrX 73042607 rs41306111 C T 1862.66 PASS DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=56;MQ0=0;QD=33.87;SB=-907.21;TI=NR_003255,NR_001564;GI=TSIX,XIST;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,54:55:99:1896,141,0:56:99:1.000 chrX 73043144 . CTT C 216.47 R8 BaseQRankSum=0.054;DP=20;FS=0.000;HRun=17;HaplotypeScore=107.9833;MQ=47;MQ0=0;MQRankSum=0.922;QD=10.82;ReadPosRankSum=1.356;SB=-124.24;TI=NR_003255,NR_001564;GI=TSIX,XIST;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:8,6:20:46.17:256,0,46:47:46:0.429 chrX 73043817 rs1620574 T C 3104.26 PASS DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6650;MQ=58;MQ0=0;QD=32.00;SB=-1568.15;TI=NR_003255,NR_001564;GI=TSIX,XIST;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,96:97:99:3137,232,0:58:99:1.000 chrX 73044970 rs41303715 T A 5466.16 PASS BaseQRankSum=0.850;DP=172;Dels=0.00;FS=2.946;HRun=1;HaplotypeScore=4.4704;MQ=56;MQ0=0;MQRankSum=1.107;QD=31.78;ReadPosRankSum=-0.221;SB=-2820.55;TI=NR_003255,NR_001564;GI=TSIX,XIST;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,170:172:99:5466,344,0:56:99:0.988 chrX 73046557 rs16992443 G T 3324.62 PASS BaseQRankSum=0.270;DP=109;Dels=0.00;FS=3.573;HRun=2;HaplotypeScore=5.3371;MQ=56;MQ0=0;MQRankSum=0.429;QD=30.50;ReadPosRankSum=0.207;SB=-1790.29;TI=NR_003255,NR_001564;GI=TSIX,XIST;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,108:109:99:3325,209,0:56:99:0.991 chrX 73062694 rs41310673 A T 6083.77 PASS DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=55;MQ0=0;QD=31.20;SB=-3677.56;TI=NR_001564;GI=XIST;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,194:195:99:6084,442,0:55:99:1.000 chrX 73064935 rs45483698 C T 2857.57 PASS BaseQRankSum=2.842;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=38.3448;MQ=50;MQ0=2;MQRankSum=2.449;QD=25.29;ReadPosRankSum=-1.140;SB=-1870.06;TI=NR_001564;GI=XIST;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:5,105:113:99:2891,197,0:50:99:0.955 chrX 73065645 . T G 9.34 LowGQX;LowVariantFreq;SB BaseQRankSum=-5.290;DP=91;Dels=0.00;FS=53.970;HRun=3;HaplotypeScore=63.2449;MQ=47;MQ0=0;MQRankSum=-3.274;QD=0.10;ReadPosRankSum=-0.524;SB=-0.01;TI=NR_001564;GI=XIST;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:74,17:91:38.80:39,0,2196:47:9:0.187 chrX 73065651 . T G 98.37 SB BaseQRankSum=-3.522;DP=91;Dels=0.02;FS=85.621;HRun=5;HaplotypeScore=63.3481;MQ=47;MQ0=0;MQRankSum=-2.436;QD=1.08;ReadPosRankSum=0.191;SB=-0.01;TI=NR_001564;GI=XIST;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:70,18:89:99:128,0,1924:47:98:0.205 chrX 73065657 . T G 81.88 SB BaseQRankSum=-3.800;DP=91;Dels=0.00;FS=67.602;HRun=5;HaplotypeScore=58.6673;MQ=46;MQ0=0;MQRankSum=-2.564;QD=0.90;ReadPosRankSum=0.292;SB=-0.01;TI=NR_001564;GI=XIST;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:71,20:91:99:112,0,1905:46:82:0.220 chrX 73065948 . T G 71.23 LowVariantFreq;SB BaseQRankSum=-2.940;DP=102;Dels=0.00;FS=47.211;HRun=1;HaplotypeScore=21.8080;MQ=54;MQ0=0;MQRankSum=-4.656;QD=0.70;ReadPosRankSum=-2.107;SB=-0.01;TI=NR_001564;GI=XIST;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:89,13:102:99:101,0,2747:54:71:0.127 chrX 73065967 . A T 48.87 LowVariantFreq;SB BaseQRankSum=2.893;DP=127;Dels=0.00;FS=41.251;HRun=1;HaplotypeScore=28.9615;MQ=54;MQ0=0;MQRankSum=-5.233;QD=0.38;ReadPosRankSum=1.256;SB=-0.01;TI=NR_001564;GI=XIST;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:116,11:127:78.86:79,0,3169:54:49:0.087 chrX 73066891 rs6527 C A 3355.21 PASS DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.3440;MQ=55;MQ0=0;QD=31.36;SB=-1723.60;TI=NR_001564;GI=XIST;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,106:107:99:3355,250,0:55:99:1.000 chrX 73067239 . CT C 238.65 R8 BaseQRankSum=0.166;DP=68;FS=3.822;HRun=14;HaplotypeScore=317.2499;MQ=48;MQ0=0;MQRankSum=0.254;QD=3.51;ReadPosRankSum=1.898;SB=-98.37;TI=NR_001564;GI=XIST;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:47,13:68:99:278,0,635:48:99:0.217 chrX 73071141 rs41305409 C G 3278.40 PASS BaseQRankSum=-0.738;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=56;MQ0=0;MQRankSum=0.257;QD=30.36;ReadPosRankSum=-0.962;SB=-2019.56;TI=NR_001564;GI=XIST;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,107:108:99:3278,206,0:56:99:0.991 chrX 73071940 . T A 6.66 LowGQX;SB BaseQRankSum=-3.542;DP=58;Dels=0.09;FS=0.000;HRun=13;HaplotypeScore=50.4004;MQ=44;MQ0=0;MQRankSum=-2.336;QD=0.11;ReadPosRankSum=-0.340;SB=-0.01;TI=NR_001564;GI=XIST;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:42,11:53:35.60:36,0,985:44:7:0.208 chrX 73071940 . TA T 76.80 LowVariantFreq;R8 BaseQRankSum=1.417;DP=58;FS=6.595;HRun=13;HaplotypeScore=323.0308;MQ=44;MQ0=0;MQRankSum=-0.748;QD=1.32;ReadPosRankSum=-0.537;SB=-17.83;TI=NR_001564;GI=XIST;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:40,7:58:99:116,0,700:44:77:0.149 chrX 73641569 rs6647476 T C 508.85 LowGQX;LowGQ BaseQRankSum=1.369;DP=20;Dels=0.00;FS=3.757;HRun=1;HaplotypeScore=1.7608;MQ=51;MQ0=0;MQRankSum=1.369;QD=25.44;ReadPosRankSum=0.091;SB=-251.68;TI=NM_006517;GI=SLC16A2;FC=Missense_S107P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,18:20:8.17:541,8,0:51:8:0.947 chrX 76937963 rs3088074 G C 2543.26 PASS DP=84;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=13.2131;MQ=57;MQ0=0;QD=30.28;SB=-1573.76;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Missense_Q929E,Missense_Q891E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,83:83:99:2576,187,0:57:99:1.000 chrX 77268502 rs2227291 G C 1460.59 PASS DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51;MQ0=0;QD=25.62;SB=-1076.89;TI=NM_000052;GI=ATP7A;FC=Missense_V767L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,57:57:99:1494,105,0:51:99:1.000 chrX 77298857 rs4826245 G A 2275.23 PASS DP=79;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.80;SB=-1438.72;TI=NM_000052;GI=ATP7A;FC=Missense_E1350K;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:2308,166,0:55:99:1.000 chrX 79943569 rs3122407 T C 1091.76 PASS DP=36;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=30.33;SB=-600.41;TI=NM_153252;GI=BRWD3;FC=Missense_K1288R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,36:36:81.27:1125,81,0:57:81:1.000 chrX 82764040 rs5921978 A G 2608.57 PASS DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5489;MQ=53;MQ0=0;QD=29.98;SB=-1588.46;TI=NM_000307;GI=POU3F4;FC=Synonymous_E236E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,86:87:99:2642,196,0:53:99:1.000 chrX 82764042 rs5921979 G C 2632.17 PASS DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5489;MQ=54;MQ0=0;QD=29.57;SB=-1611.61;TI=NM_000307;GI=POU3F4;FC=Missense_G237A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2665,196,0:54:99:1.000 chrX 85219021 rs10217950 T C 506.08 SB;LowDP DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=58;MQ0=0;QD=36.15;SB=-0.01;TI=NM_000390;GI=CHM;FC=Synonymous_A117A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,14:14:42.13:539,42,0:58:42:1.000 chrX 96139406 rs2642219 G A 4840.51 PASS BaseQRankSum=0.756;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6436;MQ=55;MQ0=0;MQRankSum=0.692;QD=25.48;ReadPosRankSum=0.407;SB=-3595.97;TI=NM_007309,NM_006729,NM_013347;GI=DIAPH2,DIAPH2,RPA4;FC=Silent,Silent,Missense_A33T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,188:190:99:4841,301,0:55:99:0.989 chrX 96139459 rs2642218 T C 4768.57 PASS BaseQRankSum=1.433;DP=162;Dels=0.00;FS=3.064;HRun=0;HaplotypeScore=2.8094;MQ=53;MQ0=0;MQRankSum=0.107;QD=29.44;ReadPosRankSum=1.497;SB=-3110.63;TI=NM_007309,NM_006729,NM_013347;GI=DIAPH2,DIAPH2,RPA4;FC=Silent,Silent,Synonymous_N50N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,161:162:99:4769,311,0:53:99:0.994 chrX 100490933 rs7066252 G C 4076.01 PASS BaseQRankSum=-0.500;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3592;MQ=54;MQ0=0;MQRankSum=-0.639;QD=27.36;ReadPosRankSum=-1.337;SB=-2608.20;TI=NM_001939,NM_001171184;GI=DRP2,DRP2;FC=Missense_V68L,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,148:149:99:4076,257,0:54:99:0.993 chrX 100511098 rs3213505 C T 2114.09 PASS DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=29.36;SB=-947.71;TI=NM_001939,NM_001171184;GI=DRP2,DRP2;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,72:72:99:2147,157,0:55:99:1.000 chrX 100532621 rs35899692 T C 778.51 PASS DP=29;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=26.85;SB=-389.94;TI=NM_001168474,NM_024885;GI=TAF7L,TAF7L;FC=Missense_S222G,Missense_S308G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:57.19:812,57,0:53:57:1.000 chrX 100547933 rs5951328 A G 1791.58 PASS DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=57;MQ0=0;QD=29.86;SB=-1166.13;TI=NM_024885;GI=TAF7L;FC=Missense_L34P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:1825,132,0:57:99:1.000 chrX 100603658 . G A 1898.77 PASS BaseQRankSum=0.406;DP=70;Dels=0.00;FS=2.658;HRun=0;HaplotypeScore=8.4632;MQ=56;MQ0=0;MQRankSum=1.160;QD=27.13;ReadPosRankSum=1.537;SB=-887.58;TI=NM_004085,NM_001145951;GI=TIMM8A,TIMM8A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:3,67:70:88.24:1932,88,0:56:88:0.957 chrX 100608191 rs1135363 G A 1647.58 PASS BaseQRankSum=1.439;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=51;MQ0=0;MQRankSum=-0.206;QD=27.93;ReadPosRankSum=1.615;SB=-1073.64;TI=NM_000061;GI=BTK;FC=Synonymous_C633C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,58:59:94.63:1681,95,0:51:95:0.983 chrX 103267865 rs553509 C T 2620.06 PASS DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7502;MQ=59;MQ0=0;QD=32.35;SB=-1126.53;TI=NR_031657,NM_001002916;GI=MIR1256,H2BFWT;FC=Silent,Missense_R123H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,81:81:99:2653,196,0:59:99:1.000 chrX 103268241 rs7885967 G A 2685.80 PASS DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=56;MQ0=0;QD=29.84;SB=-915.52;TI=NR_031657,NM_001002916;GI=MIR1256,H2BFWT;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,90:90:99:2719,205,0:56:99:1.000 chrX 107417730 rs5973851 G A 1679.46 PASS DP=61;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8279;MQ=56;MQ0=0;QD=27.53;SB=-920.95;TI=NM_033641,NM_001847;GI=COL4A6,COL4A6;FC=Synonymous_G1026G,Synonymous_G1027G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,61:61:99:1712,123,0:56:99:1.000 chrX 107418906 rs4623610 A G 2883.44 PASS DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=56;MQ0=0;QD=29.42;SB=-1296.40;TI=NM_033641,NM_001847;GI=COL4A6,COL4A6;FC=Synonymous_R936R,Synonymous_R937R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,98:98:99:2916,211,0:56:99:1.000 chrX 107865895 rs1006269 A G 2143.38 PASS DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56;MQ0=0;QD=30.19;SB=-1128.10;TI=NM_033380,NM_000495;GI=COL4A5,COL4A5;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,71:71:99:2176,157,0:56:99:1.000 chrX 122318386 rs58044961 A AG 1275.65 PASS DP=29;FS=0.000;HRun=0;HaplotypeScore=37.3091;MQ=57;MQ0=0;QD=43.99;SB=-499.87;TI=NM_000828,NM_007325;GI=GRIA3,GRIA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,29:29:87.30:1318,87,0:57:87:1.000 chrX 122336600 rs78631607 T TG 1105.65 PASS DP=33;FS=0.000;HRun=3;HaplotypeScore=23.1905;MQ=59;MQ0=0;QD=33.50;SB=-529.96;TI=NM_000828,NM_007325;GI=GRIA3,GRIA3;FC=Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,30:33:90.27:1148,90,0:59:90:0.968 chrX 122537277 rs502434 T C 2615.47 PASS DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=28.12;SB=-1758.42;TI=NM_000828,NM_007325;GI=GRIA3,GRIA3;FC=Synonymous_N400N,Synonymous_N400N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,93:93:99:2648,190,0:55:99:1.000 chrX 123034511 rs5956583 A C 1634.31 PASS DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=27.70;SB=-1027.30;TI=NM_001167;GI=XIAP;FC=Missense_Q423P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,59:59:99:1667,120,0:54:99:1.000 chrX 123045327 . C CA 60.00 R8;SB;LowDP BaseQRankSum=0.177;DP=17;FS=2.363;HRun=13;HaplotypeScore=32.5888;MQ=43;MQ0=0;MQRankSum=-0.295;QD=3.53;ReadPosRankSum=1.237;SB=-9.01;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:11,6:17:99:99,0,183:43:60:0.353 chrX 123045641 rs9856 C T 3773.39 PASS DP=129;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9997;MQ=57;MQ0=0;QD=29.25;SB=-2517.27;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,129:129:99:3773,271,0:57:99:1.000 chrX 123046089 . T TA 116.18 LowVariantFreq;R8 BaseQRankSum=-0.464;DP=74;FS=3.469;HRun=12;HaplotypeScore=365.2189;MQ=48;MQ0=0;MQRankSum=-1.219;QD=1.57;ReadPosRankSum=-0.217;SB=-72.66;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,11:73:99:155,0,1019:48:99:0.172 chrX 123046198 . C CA 270.63 LowGQX;LowGQ;R8 BaseQRankSum=-2.359;DP=26;FS=2.050;HRun=13;HaplotypeScore=155.2176;MQ=47;MQ0=0;MQRankSum=0.029;QD=10.41;ReadPosRankSum=-1.136;SB=-96.37;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:1,15:26:8.80:309,0,9:47:9:0.938 chrX 123046272 rs5958343 A T 1635.76 PASS BaseQRankSum=2.207;DP=61;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.3316;MQ=50;MQ0=0;MQRankSum=1.964;QD=26.82;ReadPosRankSum=1.438;SB=-1048.89;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,59:61:99:1669,100,0:50:99:0.967 chrX 123046536 . GT G 349.18 R8 BaseQRankSum=-1.234;DP=25;FS=0.000;HRun=14;HaplotypeScore=55.4941;MQ=51;MQ0=0;MQRankSum=1.490;QD=13.97;ReadPosRankSum=-0.979;SB=-149.15;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:6,18:25:30.02:388,0,30:51:30:0.750 chrX 123046923 rs6648556 T G 1020.69 PASS DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57;MQ0=0;QD=31.90;SB=-484.51;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,32:32:78.25:1054,78,0:57:78:1.000 chrX 123047668 . G C 509.99 PASS BaseQRankSum=0.579;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=1;MQRankSum=-2.405;QD=6.07;ReadPosRankSum=-0.165;SB=-468.85;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:52,32:84:99:540,0,1531:54:99:0.381 chrX 123047709 rs72610614 G A 495.30 PASS BaseQRankSum=1.584;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55;MQ0=1;MQRankSum=-2.880;QD=5.76;ReadPosRankSum=1.054;SB=-475.24;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:54,32:86:99:525,0,1627:55:99:0.372 chrX 123047728 . T C 337.50 PASS BaseQRankSum=2.304;DP=74;Dels=0.00;FS=0.964;HRun=0;HaplotypeScore=1.7882;MQ=57;MQ0=1;MQRankSum=-0.850;QD=4.56;ReadPosRankSum=1.583;SB=-299.84;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,23:74:99:367,0,1530:57:99:0.315 chrX 123047770 . C T 192.93 LowVariantFreq;SB BaseQRankSum=0.998;DP=67;Dels=0.00;FS=5.184;HRun=2;HaplotypeScore=1.8665;MQ=55;MQ0=1;MQRankSum=1.015;QD=2.88;ReadPosRankSum=-0.241;SB=-8.42;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:55,12:67:99:223,0,1551:55:99:0.179 chrX 123047802 . A C 106.57 LowVariantFreq;SB BaseQRankSum=1.416;DP=68;Dels=0.00;FS=10.465;HRun=0;HaplotypeScore=0.8941;MQ=55;MQ0=1;MQRankSum=0.875;QD=1.57;ReadPosRankSum=-3.436;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:59,8:68:99:137,0,1574:55:99:0.119 chrX 129147079 rs4830173 T C 1943.83 PASS BaseQRankSum=1.676;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4430;MQ=55;MQ0=0;MQRankSum=1.676;QD=30.85;ReadPosRankSum=-0.615;SB=-1091.72;TI=NM_021946;GI=BCORL1;FC=Missense_F111L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,61:63:99:1977,147,0:55:99:0.984 chrX 129148764 . C T 2834.67 PASS BaseQRankSum=1.695;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3776;MQ=56;MQ0=0;MQRankSum=0.838;QD=30.48;ReadPosRankSum=-1.434;SB=-1352.73;TI=NM_021946;GI=BCORL1;FC=Synonymous_A672A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,92:93:99:2868,208,0:56:99:0.989 chrX 129203360 . G T 5251.64 PASS DP=194;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=27.07;SB=-3123.26;TI=NM_001421,NM_001127197;GI=ELF4,ELF4;FC=Missense_P368T,Missense_P368T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,194:194:99:5252,379,0:55:99:1.000 chrX 129283520 rs1139851 A G 3114.43 PASS DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8401;MQ=55;MQ0=0;QD=27.56;SB=-1606.11;TI=NM_145813,NM_004208,NM_145812,NM_001130847;GI=AIFM1,AIFM1,AIFM1,AIFM1;FC=Silent,Synonymous_D91D,Synonymous_D87D,Synonymous_D91D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,113:113:99:3147,229,0:55:99:1.000 chrX 131212512 rs5977623 A G 3423.54 PASS BaseQRankSum=0.123;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=57;MQ0=0;MQRankSum=0.011;QD=31.12;ReadPosRankSum=-0.884;SB=-1737.57;TI=NM_194277;GI=FRMD7;FC=Synonymous_I511I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,108:110:99:3424,218,0:57:99:0.982 chrX 131212642 rs6637934 C T 2646.57 PASS BaseQRankSum=1.695;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=56;MQ0=0;MQRankSum=1.695;QD=27.86;ReadPosRankSum=0.516;SB=-1709.59;TI=NM_194277;GI=FRMD7;FC=Missense_R468H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,93:95:99:2680,193,0:56:99:0.989 chrX 132437337 rs1048369 G A 2744.53 PASS DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=54;MQ0=0;QD=28.89;SB=-1707.46;TI=NM_001448;GI=GPC4;FC=Missense_A442V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,95:95:99:2778,202,0:54:99:1.000 chrX 132438872 rs1129980 C A 3314.02 PASS BaseQRankSum=1.581;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=55;MQ0=0;MQRankSum=1.702;QD=28.82;ReadPosRankSum=1.431;SB=-1705.30;TI=NM_001448;GI=GPC4;FC=Missense_E391D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,114:115:99:3314,244,0:55:99:0.991 chrX 132838305 . GA G 36.21 R8 BaseQRankSum=-0.501;DP=34;FS=1.566;HRun=13;HaplotypeScore=90.4310;MQ=41;MQ0=0;MQRankSum=-0.456;QD=1.06;ReadPosRankSum=0.319;SB=-16.40;TI=NM_004484,NM_001164617,NM_001164619,NM_001164618;GI=GPC3,GPC3,GPC3,GPC3;FC=Noncoding,Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:24,6:34:75.24:75,0,490:41:36:0.200 chrX 134978425 rs5930805 G A 910.44 PASS DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=23.96;SB=-692.51;TI=NM_018666;GI=SAGE1;FC=Synonymous_T8T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,38:38:66.22:943,66,0:53:66:1.000 chrX 134986700 rs12014884 T C 1577.85 PASS DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46;MQ0=0;QD=28.69;SB=-964.27;TI=NM_018666;GI=SAGE1;FC=Synonymous_N95N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,55:55:99:1611,123,0:46:99:1.000 chrX 134990000 rs41301507 C T 2480.03 PASS DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=53;MQ0=0;QD=28.51;SB=-1519.97;TI=NM_018666;GI=SAGE1;FC=Unknown_387;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,87:87:99:2513,181,0:53:99:1.000 chrX 134991078 rs5974570 A G 1949.98 PASS BaseQRankSum=1.684;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4941;MQ=56;MQ0=0;MQRankSum=1.684;QD=27.08;ReadPosRankSum=1.540;SB=-1335.18;TI=NM_018666;GI=SAGE1;FC=Synonymous_Q499Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,71:72:99:1983,144,0:56:99:0.986 chrX 134994005 rs4829799 T C 2655.17 PASS BaseQRankSum=0.355;DP=84;Dels=0.00;FS=4.087;HRun=0;HaplotypeScore=5.3645;MQ=57;MQ0=0;MQRankSum=-1.565;QD=31.61;ReadPosRankSum=-0.981;SB=-1171.12;TI=NM_018666;GI=SAGE1;FC=Missense_L805S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,82:84:99:2688,170,0:57:99:0.988 chrX 135292520 . A C 2937.87 PASS DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=33.38;SB=-958.94;TI=NR_027621,NM_001449,NM_001159703,NM_001159702,NM_001159700,NM_001159704,NM_001167819,NM_001159701,NM_001159699;GI=FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1,FHL1;FC=Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,88:88:99:2971,220,0:58:99:1.000 chrX 135730555 rs1126535 T C 2417.20 PASS BaseQRankSum=-1.690;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55;MQ0=0;MQRankSum=0.271;QD=29.12;ReadPosRankSum=1.148;SB=-1216.25;TI=NM_000074;GI=CD40LG;FC=Synonymous_L50L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,82:83:99:2450,146,0:55:99:0.988 chrX 148055144 rs5980615 A G 330.95 LowGQ;LowDP DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50;MQ0=0;QD=27.58;SB=-196.75;TI=NM_001169125,NM_002025,NM_001169122,NM_001169124,NM_001169123,NM_001170628;GI=AFF2,AFF2,AFF2,AFF2,AFF2,AFF2;FC=Silent,Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,12:12:27.09:364,27,0:50:27:1.000 chrX 149680539 . C T 272.99 LowGQ;LowDP DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54;MQ0=0;QD=34.12;SB=-150.11;TI=NM_001177465,NM_005491,NM_001177466;GI=MAMLD1,MAMLD1,MAMLD1;FC=Synonymous_C731C,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,8:8:24.07:306,24,0:54:24:1.000 chrX 149680554 rs2070779 C T 354.21 LowDP DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=35.42;SB=-118.40;TI=NM_001177465,NM_005491,NM_001177466;GI=MAMLD1,MAMLD1,MAMLD1;FC=Synonymous_S736S,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,10:10:30.10:387,30,0:58:30:1.000 chrX 149826503 rs222410 G A 720.46 PASS DP=25;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58;MQ0=0;QD=28.82;SB=-283.89;TI=NM_000252;GI=MTM1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,25:25:54.18:753,54,0:58:54:1.000 chrX 151909156 rs2515848 A G 2228.55 PASS DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=52;MQ0=0;QD=25.91;SB=-1504.50;TI=NM_153478,NM_001102576;GI=CSAG1,CSAG1;FC=Missense_K62R,Missense_K62R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,85:86:99:2262,166,0:52:99:1.000 chrX 152018832 rs5969919 T G 613.09 LowGQ BaseQRankSum=-0.835;DP=27;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8667;MQ=57;MQ0=0;MQRankSum=1.605;QD=22.71;ReadPosRankSum=0.706;SB=-363.21;TI=NM_015922,NM_001129765;GI=NSDHL,NSDHL;FC=Synonymous_G44G,Synonymous_G44G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,26:27:11.16:645,11,0:57:11:0.963 chrX 152864477 . G GC 273.47 LowGQ;LowDP DP=8;FS=0.000;HRun=3;HaplotypeScore=28.6329;MQ=48;MQ0=0;QD=34.18;SB=-118.07;TI=NM_152274,NM_001130997;GI=FAM58A,FAM58A;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,8:8:24.08:315,24,0:48:24:1.000 chrX 152864513 . G GC 230.50 LowGQ;LowDP DP=7;FS=0.000;HRun=2;HaplotypeScore=32.4067;MQ=41;MQ0=0;QD=32.93;SB=-76.47;TI=NM_152274,NM_001130997;GI=FAM58A,FAM58A;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,5:7:21.07:272,21,0:41:21:0.714 chrX 152954025 rs384573 A G 116.29 LowGQ;SB;LowDP DP=5;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=55;MQ0=0;QD=23.26;SB=9.58;TI=NM_005629,NM_001142805;GI=SLC6A8,SLC6A8;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,4:5:12.03:149,12,0:55:12:1.000 chrX 153170447 rs55712963 G GC 3576.50 PASS DP=79;FS=0.000;HRun=2;HaplotypeScore=45.1825;MQ=59;MQ0=0;QD=45.27;SB=-1403.92;TI=NR_027419;GI=AVPR2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,79:79:99:3576,238,0:59:99:1.000 chrX 153170980 rs56689668 T G 616.72 LowDP DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=54;MQ0=0;QD=32.46;SB=-67.68;TI=NR_027419,NM_001146151,NM_000054;GI=AVPR2,AVPR2,AVPR2;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,19:19:51.15:650,51,0:54:51:1.000 chrX 153171993 rs5201 A G 3515.08 PASS BaseQRankSum=1.193;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5679;MQ=55;MQ0=0;MQRankSum=0.738;QD=28.58;ReadPosRankSum=-0.880;SB=-1876.58;TI=NR_027419,NM_001146151,NM_000054;GI=AVPR2,AVPR2,AVPR2;FC=Silent,Silent,Synonymous_L309L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,121:123:99:3515,219,0:55:99:0.992 chrX 153247722 rs2266890 C T 2137.80 PASS DP=76;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.2477;MQ=57;MQ0=0;QD=28.13;SB=-1171.05;TI=NM_003492;GI=TMEM187;FC=Missense_S70L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,75:76:99:2171,159,0:57:99:1.000 chrX 153247745 rs7350355 A G 2432.37 PASS DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=56;MQ0=0;QD=28.96;SB=-1375.03;TI=NM_003492;GI=TMEM187;FC=Missense_M78V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,84:84:99:2465,181,0:56:99:1.000 chrX 153247954 rs6571303 C T 5259.02 PASS BaseQRankSum=-0.154;DP=191;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.6791;MQ=53;MQ0=0;MQRankSum=-1.460;QD=27.53;ReadPosRankSum=0.662;SB=-2982.73;TI=NM_003492;GI=TMEM187;FC=Synonymous_C147C;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,190:191:99:5259,345,0:53:99:0.995 chrX 153248248 rs13397 G A 1492.26 PASS DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58;MQ0=0;QD=33.91;SB=-435.92;TI=NM_003492;GI=TMEM187;FC=Synonymous_T245T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,44:44:99:1525,114,0:58:99:1.000 chrX 153296046 rs3027928 G A 2231.11 PASS BaseQRankSum=2.387;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.4939;MQ=50;MQ0=0;MQRankSum=1.154;QD=28.24;ReadPosRankSum=0.395;SB=-1252.35;TI=NM_004992,NM_001110792;GI=MECP2,MECP2;FC=Synonymous_S411S,Synonymous_S423S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,76:79:99:2264,175,0:50:99:0.974 chrX 153418541 rs949431 T G 3492.03 PASS BaseQRankSum=-0.742;DP=131;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2530;MQ=44;MQ0=12;MQRankSum=-0.480;QD=26.66;ReadPosRankSum=-1.383;SB=-1319.22;TI=NM_020061;GI=OPN1LW;FC=Missense_S180A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,130:131:99:3492,230,0:44:99:0.992 chrX 153492716 rs731614;rs61732890 C G 71.22 LowGQ;SB DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=6;MQ0=83;QD=0.77;SB=-0.01;TI=NM_001048181,NM_000513;GI=OPN1MW2,OPN1MW;FC=Synonymous_V155V,Synonymous_V155V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,92:92:11.99:104,12,0:6:12:1.000 chrX 153629155 rs4909;rs12012747;rs17091345 A G 1654.43 PASS DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.8929;MQ=34;MQ0=38;QD=17.60;SB=-990.81;TI=NM_006013,NR_026898;GI=RPL10,RPL10;FC=Missense_N202S,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:20,74:94:99:1687,129,0:34:99:0.787 chrX 153640060 rs11388353 CT C 1416.41 PASS DP=33;FS=0.000;HRun=1;HaplotypeScore=67.9985;MQ=57;MQ0=0;QD=42.92;SB=-614.10;TI=NM_001009933,NM_001009932,NM_001009934,NR_024048,NM_181311,NM_181312,NM_000116,NM_181313;GI=DNASE1L1,DNASE1L1,DNASE1L1,TAZ,TAZ,TAZ,TAZ,TAZ;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,33:33:99:1458,99,0:57:99:1.000 chrX 153649813 rs743547 G C 2322.34 PASS DP=78;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=9.1120;MQ=57;MQ0=0;QD=29.77;SB=-1042.47;TI=NR_024048,NM_181311,NM_181312,NM_000116,NM_181313;GI=TAZ,TAZ,TAZ,TAZ,TAZ;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,78:78:99:2355,175,0:57:99:1.000 chrX 153994596 rs2728532 G T 2844.78 PASS DP=89;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54;MQ0=0;QD=31.96;SB=-1269.93;TI=NM_001363,NM_001142463;GI=DKC1,DKC1;FC=Synonymous_T123T,Synonymous_T123T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,89:89:99:2878,214,0:54:99:1.000 chrX 154005148 rs1800533 G A 3069.20 PASS DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8773;MQ=56;MQ0=0;QD=28.16;SB=-1693.50;TI=NM_001363,NM_001142463;GI=DKC1,DKC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,109:109:99:3102,223,0:56:99:1.000 chrX 154158201 rs1800292 T G 3820.29 PASS DP=132;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.9249;MQ=57;MQ0=0;QD=28.94;SB=-2476.77;TI=NM_000132;GI=F8;FC=Synonymous_S1288S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,131:132:99:3820,277,0:57:99:1.000 chrY 14968772 . TA T 87.53 R8 BaseQRankSum=0.860;DP=32;FS=1.584;HRun=12;HaplotypeScore=63.8834;MQ=53;MQ0=0;MQRankSum=1.358;QD=2.74;ReadPosRankSum=0.045;SB=-46.63;TI=NM_004654;GI=USP9Y;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:21,7:32:99:127,0,439:53:88:0.250 chrY 21154466 rs10465460 T A 902.96 PASS BaseQRankSum=2.037;DP=93;Dels=0.00;FS=5.467;HRun=0;HaplotypeScore=3.5489;MQ=50;MQ0=0;MQRankSum=-4.241;QD=9.71;ReadPosRankSum=-0.733;SB=-457.74;TI=NR_001543,NM_013230;GI=TTTY14,CD24;FC=Silent,Missense_T44S;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:53,40:93:99:933,0,1407:50:99:0.430 chrY 21154569 rs17855271 A G 164.18 PASS BaseQRankSum=-1.950;DP=60;Dels=0.00;FS=4.790;HRun=0;HaplotypeScore=4.6711;MQ=49;MQ0=0;MQRankSum=-2.911;QD=2.74;ReadPosRankSum=0.120;SB=-78.88;TI=NR_001543,NM_013230;GI=TTTY14,CD24;FC=Silent,Synonymous_L9L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,12:60:99:194,0,1253:49:99:0.200 chrY 21154603 rs79788321 A C 196.64 PASS BaseQRankSum=0.638;DP=46;Dels=0.00;FS=5.139;HRun=1;HaplotypeScore=4.6493;MQ=51;MQ0=0;MQRankSum=-2.864;QD=4.27;ReadPosRankSum=2.989;SB=-104.14;TI=NR_001543,NM_013230;GI=TTTY14,CD24;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:34,12:46:99:227,0,871:51:99:0.261 chrY 21894633 . CA C 53.21 R8 BaseQRankSum=-0.034;DP=30;FS=2.780;HRun=15;HaplotypeScore=79.8425;MQ=57;MQ0=0;MQRankSum=-0.171;QD=1.77;ReadPosRankSum=1.263;SB=-25.67;TI=NM_001146706,NM_004653,NM_001146705;GI=KDM5D,KDM5D,KDM5D;FC=Noncoding,Noncoding,Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:20,5:30:92.24:92,0,192:57:53:0.200