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Chr Start End Ref Alt Func Gene GeneDetail ExonicFunc AAChange 1000G ALL 1000G AFR 1000G AMR 1000G EAS 1000G EUR 1000G SAS ExAC Freq ExAC AFR ExAC AMR ExAC EAS ExAC FIN ExAC NFE ExAC OTH ExAC SAS ESP6500si ALL ESP6500si AA ESP6500si EA CG46 NCI60 dbSNP COSMIC ID COSMIC DIS ClinVar SIG ClinVar DIS ClinVar STATUS ClinVar ID ClinVar DB ClinVar DBID GWAS DIS GWAS OR GWAS BETA GWAS PUBMED GWAS SNP GWAS P SIFT score SIFT pred Polyphen2 HDIV score Polyphen2 HDIV pred Polyphen2 HVAR score Polyphen2 HVAR pred LRT score LRT pred MutationTaster score MutationTaster pred MutationAssessor score MutationAssessor pred FATHMM score FATHMM pred RadialSVM score RadialSVM pred LR score LR pred VEST3 score CADD raw CADD phred GERP++ RS phyloP46way placental phyloP100way vertebrate SiPhy 29way logOdds Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo
1 871334 871334 G T intronic SAMD11 0.5 0.2 0.59 0.49 0.71 0.63 . . . . . . . . . . . 0.38 . rs4072383 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 328.93 12 1 871334 . G T 328.93 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.43;MQ0=0;QD=27.41;VQSLOD=7.2502;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:33.06:362,33,0
1 876499 876499 A G intronic SAMD11 0.91 0.87 0.92 0.92 0.95 0.92 0.9276 0.8755 0.9496 0.9115 0.9591 0.9350 0.9458 0.9168 0.92 0.88 0.94 0.87 0.48 rs4372192 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 396.76 15 1 876499 . A G 396.76 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.45;VQSLOD=13.2301;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:33.11:430,33,0
1 881627 881627 G A exonic NOC2L synonymous SNV NOC2L:NM_015658:exon16:c.C1843T:p.L615L 0.44 0.064 0.44 0.62 0.63 0.57 0.5653 0.1397 0.4840 0.6560 0.6221 0.6283 0.5737 0.5648 0.47 0.16 0.64 0.42 0.52 rs2272757 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2284.93 67 1 881627 . G A 2284.93 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6594;MQ=59.10;MQ0=0;QD=34.10;VQSLOD=9.2260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2318,184,0
1 881918 881918 G A exonic NOC2L nonsynonymous SNV NOC2L:NM_015658:exon15:c.C1667T:p.S556L 0.029 0.0038 0.026 . 0.057 0.069 0.0470 0.0114 0.0212 0.0002 0.0264 0.0609 0.0403 0.0657 0.046 0.015 0.062 0.011 0.057 rs35471880 . . . . . . . . . . . . . . 0.03 D 0.81 P 0.183 B 0.000 D 0.999 D 1.655 L 0.92 T -1.137 T 0.012 T 0.163 2.503 14.33 4.09 1.097 7.449 12.671 het 861.50 83 1 881918 . G A 861.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.048;DP=83;Dels=0.00;FS=1.848;HRun=1;HaplotypeScore=0.7887;MQ=58.53;MQ0=0;MQRankSum=0.265;QD=10.38;ReadPosRankSum=-0.749;VQSLOD=5.7609;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,33:83:99:891,0,1300
1 887560 887560 A C intronic NOC2L 0.9 0.83 0.91 0.92 0.95 0.92 0.9241 0.8309 0.9513 0.9121 0.9540 0.9339 0.9443 0.9171 0.9 0.83 0.93 0.85 0.87 rs3748595 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1856.13 56 1 887560 . A C 1856.13 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=33.15;VQSLOD=9.9033;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1889,147,0
1 887801 887801 A G exonic NOC2L synonymous SNV NOC2L:NM_015658:exon10:c.T1182C:p.T394T 0.92 0.91 0.92 0.92 0.95 0.92 0.9355 0.9094 0.9558 0.9127 0.9599 0.9406 0.9521 0.9184 0.93 0.91 0.94 0.91 0.87 rs3828047 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1723.16 53 1 887801 . A G 1723.16 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8154;MQ=57.26;MQ0=0;QD=32.51;VQSLOD=6.9285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1756,138,0
1 888639 888639 T C exonic NOC2L synonymous SNV NOC2L:NM_015658:exon9:c.A918G:p.E306E 0.92 0.91 0.92 0.92 0.95 0.92 0.9356 0.9096 0.9558 0.9124 0.9601 0.9407 0.9511 0.9184 0.93 0.91 0.94 0.91 0.87 rs3748596 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1861.39 59 1 888639 . T C 1861.39 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.83;MQ0=0;QD=31.55;VQSLOD=7.5017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1894,150,0
1 888659 888659 T C exonic NOC2L nonsynonymous SNV NOC2L:NM_015658:exon9:c.A898G:p.I300V 0.92 0.91 0.92 0.92 0.95 0.92 0.9355 0.9096 0.9557 0.9126 0.9600 0.9407 0.9509 0.9183 0.93 0.91 0.94 0.91 0.87 rs3748597 . . . . . . . . . . . . . . 1 T 0.0 B 0.0 B 0.070 N 1.000 P -2.24 N -0.39 T -0.957 T 0.000 T 0.091 -2.241 0.004 4.28 0.578 0.538 7.695 hom 1257.45 39 1 888659 . T C 1257.45 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.53;MQ0=0;QD=32.24;VQSLOD=8.1358;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1290,105,0
1 889158 889158 G C intronic NOC2L 0.9 0.83 0.91 0.94 0.95 0.92 0.9279 0.8307 0.9498 0.9204 0.9573 0.9395 0.9488 0.9177 0.9 0.82 0.93 . 0.75 rs13303056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1044.38 30 1 889158 . G C 1044.38 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.81;VQSLOD=13.1407;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:87.26:1077,87,0
1 889159 889159 A C intronic NOC2L 0.9 0.83 0.91 0.94 0.95 0.92 0.9279 0.8308 0.9498 0.9202 0.9574 0.9396 0.9491 0.9177 0.9 0.82 0.93 . 0.75 rs13302945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1074.22 30 1 889159 . A C 1074.22 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=35.81;VQSLOD=13.8927;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:87.27:1107,87,0
1 891620 891620 C A intronic NOC2L 0.0028 0.0008 0.0058 . 0.0089 . 0.0080 0.0032 0.0045 0 0.0042 0.0122 0.0091 0.0027 0.011 0.0032 0.014 . 0.016 rs192262159 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 872.71 61 1 891620 . C A 872.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.266;DP=61;Dels=0.00;FS=3.739;HRun=0;HaplotypeScore=1.5661;MQ=59.24;MQ0=0;MQRankSum=-0.355;QD=14.31;ReadPosRankSum=-0.429;VQSLOD=4.6720;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,29:61:99:903,0,768
1 894573 894573 G A intronic NOC2L 0.63 0.16 0.7 0.71 0.9 0.88 0.8172 0.2692 0.7677 0.7306 0.8993 0.8940 0.8506 0.8674 0.69 0.28 0.9 0.56 0.56 rs13303010 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 705.58 22 1 894573 . G A 705.58 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.31;MQ0=0;QD=32.07;VQSLOD=8.1040;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:60.17:739,60,0
1 897325 897325 G C exonic KLHL17 synonymous SNV KLHL17:NM_198317:exon4:c.G609C:p.A203A 0.86 0.7 0.88 0.92 0.94 0.92 0.9077 0.7210 0.9401 0.9079 0.9345 0.9261 0.9283 0.9161 0.86 0.73 0.93 0.77 0.85 rs4970441 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 4465.20 148 1 897325 . G C 4465.20 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4583;MQ=59.34;MQ0=0;QD=30.17;VQSLOD=7.0370;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,146:148:99:4430,340,0
1 909238 909238 G C exonic PLEKHN1 nonsynonymous SNV PLEKHN1:NM_001160184:exon13:c.G1355C:p.R452P,PLEKHN1:NM_032129:exon14:c.G1460C:p.R487P 0.78 0.82 0.69 0.89 0.62 0.83 0.6685 0.7890 0.6912 0.8778 0.5664 0.5916 0.6964 0.8120 0.65 0.78 0.58 0.84 0.45 rs3829740 . . . . . . . . . . . . . . 0.28 T 0.0 B 0.0 B 0.414 N 1.000 P -0.55 N 1.0 T -1.043 T 0.000 T 0.09 -0.295 2.592 2.45 0.456 0.311 2.650 het 1019.26 66 1 909238 . G C 1019.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.146;DP=66;Dels=0.00;FS=0.949;HRun=1;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=0.201;QD=15.44;ReadPosRankSum=-0.590;VQSLOD=6.1256;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,38:66:99:1049,0,717
1 909768 909768 A G intronic PLEKHN1 1. 1. 1. 1. 1. 1. 0.9999 0.9993 1 1 1 1 1 1 1. 1. 1. 0.97 0.97 rs2340593 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 5216.65 164 1 909768 . A G 5216.65 Mask AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.1004;MQ=59.15;MQ0=0;QD=31.81;VQSLOD=7.6501;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:5216,400,0
1 948921 948921 T C UTR5 ISG15 NM_005101:c.-33T>C 0.9 0.72 0.93 1. 0.96 0.98 0.9416 0.7386 0.9632 0.9998 0.9681 0.9543 0.9410 0.9617 0.89 0.75 0.96 0.79 0.93 rs15842 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2195.45 73 1 948921 . T C 2195.45 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=59.05;MQ0=0;QD=30.07;VQSLOD=8.7991;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2228,181,0
1 949654 949654 A G exonic ISG15 synonymous SNV ISG15:NM_005101:exon2:c.A294G:p.V98V 0.83 0.51 0.92 0.93 0.95 0.96 0.9122 0.5636 0.9528 0.9254 0.9472 0.9446 0.9202 0.9501 0.82 0.57 0.95 0.69 0.83 rs8997 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2541.96 76 1 949654 . A G 2541.96 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3692;MQ=59.39;MQ0=0;QD=33.45;VQSLOD=9.1752;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2575,208,0
1 977330 977330 T C intronic AGRN 0.89 0.69 0.92 1. 0.92 0.97 0.9166 0.7175 0.9541 0.9998 0.9492 0.9161 0.9326 0.9544 0.85 0.72 0.92 0.79 0.89 rs2799066 . . non-pathogenic not_specified single RCV000116254.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1785.32 49 1 977330 . T C 1785.32 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;QD=36.44;VQSLOD=8.7916;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1818,141,0
1 978762 978762 G A exonic AGRN nonsynonymous SNV AGRN:NM_198576:exon8:c.G1528A:p.G510S 0.003 0.0015 0.0043 . 0.0099 . 0.0083 0.0027 0.0043 0 0.0110 0.0123 0.0076 0.0019 0.0092 0.0025 0.013 . . rs138288952 . . . . . . . . . . . . . . 0.51 T 0.991 D 0.949 D 0.000 D 1.000 D 0.49 N 3.85 T -0.773 T 0.014 T 0.185 3.177 16.63 4.76 2.195 3.205 17.782 het 224.89 20 1 978762 . G A 224.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.821;DP=20;Dels=0.00;FS=2.392;HRun=0;HaplotypeScore=7.6397;MQ=58.84;MQ0=0;MQRankSum=-0.222;QD=11.24;ReadPosRankSum=1.288;VQSLOD=2.8342;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:10,9:20:99:255,0,244
1 980460 980460 G A intronic AGRN 0.91 0.77 0.93 1. 0.93 0.97 . . . . . . . . . . . 0.81 . rs3128097 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1024.35 33 1 980460 . G A 1024.35 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.04;VQSLOD=13.4274;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:84.26:1057,84,0
1 981087 981087 A G intronic AGRN 0.87 0.62 0.92 1. 0.93 0.97 0.9128 0.6454 0.9480 0.9999 0.9509 0.9217 0.9357 0.9570 0.83 0.65 0.93 0.75 0.9 rs3128098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2897.78 100 1 981087 . A G 2897.78 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1365;MQ=59.16;MQ0=0;QD=28.98;VQSLOD=7.5463;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:2931,250,0
1 981931 981931 A G exonic AGRN synonymous SNV AGRN:NM_198576:exon18:c.A3066G:p.S1022S 0.8 0.46 0.89 0.96 0.91 0.91 0.8767 0.5130 0.9312 0.9649 0.9266 0.9018 0.8983 0.8890 0.78 0.53 0.91 0.2 0.73 rs2465128 . . non-pathogenic not_specified single RCV000116259.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 951.32 32 1 981931 . A G 951.32 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=29.73;VQSLOD=8.3029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.24:984,81,0
1 982844 982844 G C intronic AGRN 0.039 0.003 0.053 0.001 0.083 0.071 0.0577 0.0119 0.0304 0.0002 0.0537 0.0730 0.0673 0.0748 0.054 0.013 0.075 0.022 0.082 rs76264143 . . probable-non-pathogenic not_specified single RCV000116263.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 799.99 62 1 982844 . G C 799.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.993;DP=62;Dels=0.00;FS=2.100;HRun=0;HaplotypeScore=3.5926;MQ=59.63;MQ0=0;MQRankSum=-1.866;QD=12.90;ReadPosRankSum=1.233;VQSLOD=4.2585;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:830,0,852
1 982941 982941 T C intronic AGRN 0.8 0.41 0.9 0.97 0.92 0.96 0.8859 0.4549 0.9356 0.9689 0.9298 0.9109 0.9154 0.9458 0.77 0.48 0.92 0.66 . rs3128102 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 3093.26 100 1 982941 . T C 3093.26 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.7171;MQ=58.22;MQ0=0;QD=30.93;VQSLOD=6.9498;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3126,244,0
1 982994 982994 T C exonic AGRN synonymous SNV AGRN:NM_198576:exon21:c.T3558C:p.F1186F 0.84 0.52 0.9 1. 0.92 0.97 0.8989 0.5354 0.9420 0.9995 0.9490 0.9151 0.9256 0.9543 0.79 0.54 0.92 0.72 0.86 rs10267 . . non-pathogenic not_specified single RCV000116264.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 4089.18 131 1 982994 . T C 4089.18 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7449;MQ=58.65;MQ0=0;QD=31.22;VQSLOD=7.9157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,130:131:99:4089,319,0
1 985266 985266 C T intronic AGRN 0.5 0.1 0.64 0.82 0.55 0.54 0.5436 0.1637 0.7253 0.8084 0.5250 0.5312 0.5426 0.5470 0.4 0.16 0.53 0.4 0.46 rs2275813 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1446.20 47 1 985266 . C T 1446.20 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.94;MQ0=0;QD=30.77;VQSLOD=8.8532;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1479,114,0
1 987200 987200 C T intronic AGRN 0.79 0.4 0.89 0.99 0.91 0.9 0.8757 0.4520 0.9366 0.9968 0.9443 0.9055 0.9101 0.8844 0.76 0.46 0.91 0.7 0.85 rs9803031 . . non-pathogenic not_specified single RCV000116279.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1646.56 52 1 987200 . C T 1646.56 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.66;VQSLOD=14.4214;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1680,135,0
1 1021415 1021415 A G intronic C1orf159 0.81 0.81 0.81 0.92 0.74 0.79 0.7559 0.7857 0.8230 0.8943 0.7303 0.7156 0.7701 0.7883 0.74 0.78 0.72 0.77 . rs3737728 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 834.60 26 1 1021415 . A G 834.60 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=32.10;VQSLOD=9.3095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:69.21:868,69,0
1 1120307 1120307 G A intronic TTLL10 0.32 0.11 0.4 0.56 0.18 0.41 0.3392 0.1613 0.5492 0.7085 0.2949 0.2620 0.3368 0.4001 . . . 0.065 . rs7539911 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 89.40 13 1 1120307 . G A 89.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.793;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.79;MQ0=1;MQRankSum=0.135;QD=6.88;ReadPosRankSum=0.244;VQSLOD=4.4185;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:8,5:13:99:119,0,167
1 1158631 1158631 A G exonic SDF4 synonymous SNV SDF4:NM_016176:exon4:c.T570C:p.D190D,SDF4:NM_016547:exon4:c.T570C:p.D190D 0.95 1. 0.93 1. 0.86 0.96 0.9166 0.9825 0.9568 0.9998 0.8569 0.8864 0.9106 0.9499 0.92 0.98 0.89 0.96 0.79 rs6603781 . . . . . . . . . . . . . . . . . . . . . . 0.000 P . . . . . . . . . -1.117 0.128 -8.16 -2.462 -0.115 17.336 hom 3725.20 124 1 1158631 . A G 3725.20 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5233;MQ=60.00;MQ0=0;QD=30.04;VQSLOD=8.5809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:124:99:3724,322,0
1 1222963 1222963 C T exonic SCNN1D synonymous SNV SCNN1D:NM_001130413:exon10:c.C1386T:p.P462P 0.009 0.0015 0.0072 . 0.02 0.018 0.0140 0.0036 0.0051 0.0002 0.0096 0.0180 0.0187 0.0227 0.014 0.0034 0.019 0.011 0.057 rs74735644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1374.17 95 1 1222963 . C T 1374.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.531;DP=95;Dels=0.00;FS=3.021;HRun=0;HaplotypeScore=3.8646;MQ=60.00;MQ0=0;MQRankSum=1.578;QD=14.46;ReadPosRankSum=0.595;VQSLOD=4.4969;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,53:95:99:1404,0,1003
1 1225612 1225612 G A intronic SCNN1D 0.18 0.25 0.2 0.17 0.11 0.14 0.1591 0.2293 0.3075 0.1927 0.1377 0.1216 0.1658 0.1388 0.16 0.22 0.13 0.043 0.14 rs1570866 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 759.99 64 1 1225612 . G A 759.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.958;DP=64;Dels=0.00;FS=8.582;HRun=0;HaplotypeScore=0.9867;MQ=57.45;MQ0=0;MQRankSum=-1.027;QD=11.87;ReadPosRankSum=-0.958;VQSLOD=3.5062;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,29:64:99:790,0,893
1 1246004 1246004 A G intronic PUSL1 0.95 0.98 0.98 0.91 0.97 0.92 0.9629 0.9875 0.9886 0.9119 0.9338 0.9709 0.9464 0.9244 0.98 0.99 0.97 0.98 0.98 rs2296474 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 7830.20 248 1 1246004 . A G 7830.20 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4198;MQ=59.46;MQ0=0;QD=31.57;VQSLOD=5.7538;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7829,605,0
1 1249187 1249187 G A exonic CPSF3L synonymous SNV CPSF3L:NM_001256462:exon7:c.C588T:p.F196F,CPSF3L:NM_001256463:exon7:c.C579T:p.F193F,CPSF3L:NM_017871:exon9:c.C882T:p.F294F,CPSF3L:NM_001256460:exon10:c.C795T:p.F265F,CPSF3L:NM_001256456:exon11:c.C900T:p.F300F 0.31 0.065 0.44 0.019 0.81 0.34 0.5791 0.1560 0.3152 0.0138 0.7382 0.7965 0.6473 0.3875 0.59 0.17 0.8 0.28 0.84 rs12142199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 4417.18 135 1 1249187 . G A 4417.18 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.9937;MQ=59.38;MQ0=0;QD=32.72;VQSLOD=9.2520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4417,346,0
1 1254841 1254841 C G exonic CPSF3L synonymous SNV CPSF3L:NM_017871:exon4:c.G264C:p.G88G,CPSF3L:NM_001256460:exon5:c.G177C:p.G59G,CPSF3L:NM_001256456:exon6:c.G282C:p.G94G 0.71 0.3 0.85 0.84 0.92 0.83 0.8476 0.3848 0.7911 0.8258 0.8814 0.9295 0.8330 0.8477 0.75 0.4 0.93 0.59 0.85 rs10907179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 4734.14 141 1 1254841 . C G 4734.14 Mask AC=2;AF=1.00;AN=2;DP=141;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.4913;MQ=59.14;MQ0=0;QD=33.58;VQSLOD=8.7662;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4734,373,0
1 1262591 1262591 C T intronic CPTP 0.72 0.33 0.86 0.83 0.92 0.83 0.8515 0.4104 0.7923 0.8255 0.8798 0.9306 0.8345 0.8471 0.76 0.42 0.93 0.63 0.88 rs2296472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2088.17 80 1 1262591 . C T 2088.17 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3123;MQ=59.71;MQ0=0;QD=26.10;VQSLOD=6.3536;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:80:99:2121,169,0
1 1262966 1262966 C T exonic CPTP synonymous SNV CPTP:NM_001029885:exon3:c.C468T:p.R156R 0.76 0.48 0.87 0.83 0.92 0.83 0.8716 0.6069 0.8069 0.8336 0.8795 0.9301 0.8512 0.8483 0.81 0.58 0.93 0.69 0.84 rs307349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1352.95 41 1 1262966 . C T 1352.95 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.00;VQSLOD=13.7986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:41:99:1386,120,0
1 1263144 1263144 G A UTR3 CPTP NM_001029885:c.*1G>A 0.85 0.79 0.9 0.83 0.92 0.83 0.8897 0.8332 0.8109 0.8253 0.8806 0.9321 0.8646 0.8479 0.91 0.85 0.94 0.8 0.96 rs307350 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 4525.93 144 1 1263144 . G A 4525.93 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7262;MQ=59.39;MQ0=0;QD=31.43;VQSLOD=9.1684;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4525,358,0
1 1269554 1269554 T C exonic TAS1R3 nonsynonymous SNV TAS1R3:NM_152228:exon6:c.T2269C:p.C757R 0.95 0.98 0.98 0.91 0.97 0.92 0.9613 0.9873 0.988 0.9128 0.9366 0.9721 0.9321 0.9239 0.98 0.99 0.97 0.98 0.78 rs307377 . . . . . . . . . . . . . . 0.33 T 0.0 B 0.0 B 0.048 N 1.000 P -1.79 N -2.22 D -0.948 T 0.000 T 0.141 -2.570 0.003 -0.839 -0.627 0.423 1.084 hom 912.95 26 1 1269554 . T C 912.95 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=35.11;VQSLOD=9.2646;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:78.23:946,78,0
1 1289911 1289911 G A intronic MXRA8 0.83 0.71 0.89 0.83 0.92 0.84 0.8850 0.7740 0.8084 0.8293 0.8825 0.9328 0.8598 0.8463 0.89 0.79 0.94 0.75 0.89 rs4970365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1925.69 58 1 1289911 . G A 1925.69 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6006;MQ=60.00;MQ0=0;QD=33.20;VQSLOD=8.8816;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1959,153,0
1 1310074 1310074 C G intronic AURKAIP1 0.83 0.58 0.92 0.9 0.94 0.91 0.8943 0.6512 0.8910 0.8834 0.8245 0.9443 0.9195 0.9090 0.86 0.67 0.96 0.72 0.3 rs2765035 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 398.78 13 1 1310074 . C G 398.78 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.68;VQSLOD=13.2690;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:33.10:432,33,0
1 1387726 1387726 A G intronic ATAD3C 0.29 0.2 0.38 0.39 0.16 0.38 0.2432 0.1817 0.5201 0.3776 0.2374 0.1566 0.2528 0.3684 0.17 0.17 0.16 0.24 . rs9793066 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1413.67 163 1 1387726 . A G 1413.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.696;DP=163;Dels=0.00;FS=0.683;HRun=0;HaplotypeScore=8.4740;MQ=58.49;MQ0=0;MQRankSum=0.866;QD=8.67;ReadPosRankSum=0.279;VQSLOD=3.3312;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,61:163:99:1444,0,2838
1 1403972 1403972 - G UTR3 ATAD3C NM_001039211:c.*62_*63insG 0.41 0.63 0.31 0.62 0.08 0.33 0.2290 0.5591 0.3998 0.6415 0.1878 0.0639 0.2274 0.3452 0.2 0.5 0.057 . . rs111566296 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 266.25 11 1 1403972 . C CG 266.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.480;DP=11;FS=0.000;HRun=2;HaplotypeScore=43.2085;MQ=38.84;MQ0=1;MQRankSum=0.480;QD=20.48;ReadPosRankSum=0.480;set=variant2 GT:AD:DP:GQ:PL 0/1:4,9:11:44.32:305,0,44
1 1404001 1404001 G T UTR3 ATAD3C NM_001039211:c.*91G>T 0.068 0.031 0.078 0.13 0.039 0.08 0.0646 0.0318 0.1525 0.1359 0.0874 0.0344 0.0783 0.0844 0.028 0.025 0.029 . . rs149123833 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 157.54 10 1 1404001 . G T 157.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.393;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.29;MQ0=0;MQRankSum=-0.696;QD=15.75;ReadPosRankSum=-1.044;VQSLOD=4.0311;culprit=MQ;set=variant GT:AD:DP:GQ:PL 0/1:1,9:10:16.30:187,0,16
1 1421463 1421463 C T intronic ATAD3B 0.0006 . . . 0.002 0.001 0.0015 0.0010 0.0006 0 0.0008 0.0022 0.0045 0.0005 0.0024 0.0005 0.0034 0.011 . rs187067430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1507.77 101 1 1421463 . C T 1507.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.081;DP=101;Dels=0.00;FS=3.098;HRun=1;HaplotypeScore=5.8922;MQ=57.76;MQ0=1;MQRankSum=1.391;QD=14.93;ReadPosRankSum=-0.313;VQSLOD=2.7028;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:46,55:101:99:1538,0,1192
1 1425700 1425700 T C exonic ATAD3B synonymous SNV ATAD3B:NM_001317238:exon12:c.T1263C:p.I421I,ATAD3B:NM_031921:exon14:c.T1401C:p.I467I 0.49 0.85 0.34 0.62 0.099 0.36 0.2546 0.7544 0.3993 0.6331 0.2016 0.0867 0.2287 0.3351 0.3 0.73 0.083 0.53 0.074 rs819980 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1404.29 144 1 1425700 . T C 1404.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.147;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1669;MQ=58.73;MQ0=0;MQRankSum=0.018;QD=9.75;ReadPosRankSum=-1.253;VQSLOD=5.9270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,60:144:99:1434,0,2525
1 1425816 1425816 G A intronic ATAD3B 0.079 0.037 0.091 0.13 0.058 0.098 0.0781 0.0360 0.1542 0.1354 0.1057 0.0578 0.0824 0.0909 0.048 0.033 0.056 0.087 0.016 rs149187984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 786.51 81 1 1425816 . G A 786.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.889;DP=81;Dels=0.00;FS=4.038;HRun=0;HaplotypeScore=2.5648;MQ=59.48;MQ0=0;MQRankSum=0.663;QD=9.71;ReadPosRankSum=1.854;VQSLOD=3.8264;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,34:81:99:817,0,1212
1 1430985 1430985 C T exonic ATAD3B nonsynonymous SNV ATAD3B:NM_001317238:exon14:c.C1597T:p.R533C,ATAD3B:NM_031921:exon16:c.C1735T:p.R579C 0.079 0.037 0.091 0.13 0.058 0.098 0.0760 0.0344 0.1495 0.1308 0.1019 0.0565 0.0824 0.0893 0.048 0.033 0.056 0.087 0.025 rs139902189 . . . . . . . . . . . . . . 0.02 D 0.99 D 0.556 P 0.732 U 1.000 P 1.1 L -3.31 D -0.688 T 0.024 T 0.136 1.373 10.52 0.203 0.070 -2.162 3.358 het 993.69 87 1 1430985 . C T 993.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.170;DP=87;Dels=0.00;FS=0.998;HRun=0;HaplotypeScore=3.9004;MQ=59.25;MQ0=0;MQRankSum=0.999;QD=11.42;ReadPosRankSum=-0.004;VQSLOD=4.5955;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,40:87:99:1024,0,1117
1 1479333 1479333 A G exonic SSU72 synonymous SNV SSU72:NM_014188:exon4:c.T399C:p.P133P 0.69 0.91 0.56 0.87 0.31 0.71 0.4601 0.8304 0.5888 0.8837 0.3289 0.2840 0.4447 0.6767 0.47 0.82 0.29 0.67 0.24 rs7533 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1254.51 102 1 1479333 . A G 1254.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.293;DP=102;Dels=0.00;FS=2.574;HRun=2;HaplotypeScore=3.7255;MQ=58.81;MQ0=0;MQRankSum=0.405;QD=12.30;ReadPosRankSum=-0.385;VQSLOD=5.7718;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,48:102:99:1285,0,1488
1 1551927 1551927 T C exonic MIB2 nonsynonymous SNV MIB2:NM_001170686:exon2:c.T214C:p.F72L,MIB2:NM_001170687:exon2:c.T214C:p.F72L,MIB2:NM_001170688:exon2:c.T214C:p.F72L,MIB2:NM_080875:exon2:c.T214C:p.F72L 0.48 0.54 0.48 0.21 0.71 0.44 0.6228 0.5830 0.3726 0.2442 0.7421 0.7375 0.6557 0.5010 0.67 0.56 0.72 0.54 0.61 rs7418389 . . . . . . . . . . . . . . 1 T 0.0 B 0.0 B . . 0.999 P 0 N 1.45 T -0.931 T 0.000 T 0.099 -0.435 1.975 0.364 0.044 0.221 1.104 hom 899.80 35 1 1551927 . T C 899.80 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3990;MQ=58.26;MQ0=0;QD=25.71;VQSLOD=5.6157;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:69.22:933,69,0
1 1558792 1558792 T C exonic MIB2 nonsynonymous SNV MIB2:NM_001170686:exon3:c.T305C:p.M102T,MIB2:NM_001170688:exon3:c.T305C:p.M102T,MIB2:NM_080875:exon3:c.T305C:p.M102T 0.77 0.71 0.87 0.55 0.94 0.86 0.8797 0.7673 0.8125 0.6241 0.9004 0.9411 0.9115 0.8605 0.89 0.77 0.94 0.76 0.6 rs12755088 . . . . . . . . . . . . . . 0.31 T 0.013 B 0.004 B 0.135 U 1.000 P 0 N 1.44 T -1.000 T 0.000 T 0.13 0.617 7.321 -2.47 -0.339 . 4.729 hom 357.42 16 1 1558792 . T C 357.42 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=22.34;VQSLOD=13.1025;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:33.08:390,33,0
1 1563789 1563789 C A intronic MIB2 0.15 0.017 0.2 0.093 0.36 0.14 0.2860 0.0773 0.1600 0.0947 0.3734 0.3839 0.3230 0.1574 0.28 0.068 0.38 0.065 0.39 rs74892851 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 282.19 24 1 1563789 . C A 282.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.086;DP=24;Dels=0.00;FS=1.680;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.521;QD=11.76;ReadPosRankSum=0.348;VQSLOD=6.2517;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,11:24:99:312,0,356
1 1564953 1564953 G - intronic MIB2 0.15 0.018 0.2 0.093 0.36 0.14 0.4019 0.1296 0.3397 0.2313 0.5045 0.5088 0.3846 0.1869 0.29 0.079 0.39 . . rs112177324 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 206.10 18 1 1564952 . TG T 206.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.237;DP=18;FS=0.000;HRun=6;HaplotypeScore=41.5144;MQ=57.18;MQ0=0;MQRankSum=-1.591;QD=11.45;ReadPosRankSum=0.295;set=variant2 GT:AD:DP:GQ:PL 0/1:9,9:18:99:245,0,192
1 1585642 1585642 G T intronic CDK11B 0.62 0.47 0.78 0.53 0.73 0.69 0.6735 0.5049 0.7451 0.5492 0.7327 0.7112 0.7318 0.6802 0.65 0.51 0.71 0.58 . rs3936009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 245.67 10 1 1585642 . G T 245.67 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=24.57;VQSLOD=13.1026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:21.07:279,21,0
1 1635619 1635619 T C intronic CDK11A,CDK11B 0.65 0.94 0.56 0.47 0.59 0.56 0.6106 0.8989 0.5485 0.4601 0.6119 0.6035 0.5943 0.5896 0.69 0.9 0.59 0.47 . rs2076329 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 878.20 26 1 1635619 . T C 878.20 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=49.84;MQ0=0;QD=33.78;VQSLOD=7.1846;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:75.22:911,75,0
1 1647893 1647893 - TTTCTT exonic CDK11A,CDK11B nonframeshift insertion CDK11B:NM_001291345:exon5:c.349_350insAAGAAA:p.R117delinsKER,CDK11A:NM_001313896:exon5:c.349_350insAAGAAA:p.R117delinsKER,CDK11A:NM_001313982:exon5:c.349_350insAAGAAA:p.R117delinsKER,CDK11B:NM_001787:exon5:c.379_380insAAGAAA:p.R127delinsKER,CDK11A:NM_024011:exon5:c.379_380insAAGAAA:p.R127delinsKER,CDK11B:NM_033486:exon5:c.379_380insAAGAAA:p.R127delinsKER,CDK11A:NM_033529:exon5:c.349_350insAAGAAA:p.R117delinsKER,CDK11B:NM_033489:exon6:c.277_278insAAGAAA:p.R93delinsKER . . . . . . 0.4974 0.4974 0.4983 0.4938 0.4982 0.4969 0.4989 0.4998 . . . . . rs199866927 COSM1335905;COSM1335906 2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1790.86 100 1 1647893 . C CTTTCTT 1790.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.605;DP=100;FS=10.963;HRun=0;HaplotypeScore=620.7623;MQ=52.65;MQ0=0;MQRankSum=-6.299;QD=17.56;ReadPosRankSum=-0.015;set=variant2 GT:AD:DP:GQ:PL 0/1:81,16:100:99:1830,0,3732
1 1647968 1647968 - AT intronic CDK11A,CDK11B . . . . . . . . . . . . . . . . . . . rs146207119 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 300.29 28 1 1647968 . C CAT 300.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.661;DP=28;FS=0.000;HRun=0;HaplotypeScore=137.7222;MQ=53.95;MQ0=0;MQRankSum=-3.926;QD=10.72;ReadPosRankSum=0.000;set=variant2 GT:AD:DP:GQ:PL 0/1:21,7:28:99:339,0,923
1 1653004 1653004 T C intronic CDK11A,CDK11B 0.75 0.5 0.88 0.78 0.92 0.78 0.8485 0.5395 0.8684 0.7633 0.8896 0.9242 0.8841 0.7479 0.81 0.55 0.93 0.71 . rs36039898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 883.99 34 1 1653004 . T C 883.99 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.55;MQ0=0;QD=26.00;VQSLOD=4.0580;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:78.19:917,78,0
1 1653028 1653028 C T intronic CDK11A,CDK11B 0.75 0.5 0.88 0.78 0.92 0.78 0.8549 0.5477 0.8759 0.7701 0.8928 0.9280 0.8920 0.7554 0.81 0.56 0.93 0.72 . rs16825265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1310.51 52 1 1653028 . C T 1310.51 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=50.75;MQ0=0;QD=25.20;VQSLOD=5.1970;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1344,105,0
1 1686040 1686040 G T exonic NADK nonsynonymous SNV NADK:NM_001198995:exon6:c.C690A:p.N230K,NADK:NM_001198993:exon8:c.C786A:p.N262K,NADK:NM_023018:exon8:c.C786A:p.N262K,NADK:NM_001198994:exon10:c.C1221A:p.N407K 0.25 0.05 0.27 0.28 0.41 0.31 0.3564 0.0973 0.2580 0.2600 0.3780 0.4307 0.3789 0.3291 0.32 0.11 0.42 0.18 0.37 rs4751 . . . . . . . . . . . . . . 0.45 T 0.562 P 0.229 B 0.000 D 0.867 P 1.59 L 0.94 T -0.956 T 0.000 T 0.099 0.426 6.316 -1.93 -0.622 -0.842 13.146 hom 5146.84 153 1 1686040 . G T 5146.84 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.2100;MQ=59.88;MQ0=0;QD=33.64;VQSLOD=8.4095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5146,397,0
1 1687791 1687791 C T intronic NADK 0.015 0.0023 0.025 . 0.051 0.0041 0.0350 0.0100 0.0116 0.0001 0.0601 0.0523 0.0398 0.0052 0.034 0.012 0.045 0.022 0.041 rs72634840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2172.42 72 1 1687791 . C T 2172.42 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;QD=30.17;VQSLOD=8.5945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2205,181,0
1 1696659 1696659 A G intronic NADK 0.74 0.5 0.87 0.83 0.93 0.69 0.8622 0.5763 0.8902 0.8054 0.9132 0.9421 0.8905 0.7051 0.83 0.6 0.95 0.66 0.49 rs5021859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2463.95 84 1 1696659 . A G 2463.95 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.45;MQ0=0;QD=29.33;VQSLOD=8.6195;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2497,211,0
1 1887019 1887019 A G intronic CFAP74 0.8 0.75 0.81 0.86 0.81 0.78 0.8168 0.7749 0.8596 0.8514 0.8377 0.8201 0.7818 0.7723 0.81 0.78 0.82 0.79 0.71 rs28548017 . . . . . . . . . . . . . . . . . . . . . . 1.000 P . . . . . . . . . -1.192 0.076 -0.588 -0.644 -0.638 5.090 hom 4108.20 131 1 1887019 . A G 4108.20 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.6651;MQ=59.67;MQ0=0;QD=31.36;VQSLOD=8.9206;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4108,310,0
1 1916890 1916890 C T exonic CFAP74 synonymous SNV CFAP74:NM_001304360:exon6:c.G435A:p.L145L 0.44 0.66 0.28 0.43 0.31 0.39 0.3733 0.6239 0.2815 0.4395 0.3922 0.3375 0.3460 0.3930 0.41 0.58 0.33 0.51 0.28 rs3795280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 2498.65 202 1 1916890 . C T 2498.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.409;DP=202;Dels=0.00;FS=2.513;HRun=0;HaplotypeScore=2.8715;MQ=59.77;MQ0=0;MQRankSum=-1.208;QD=12.37;ReadPosRankSum=-1.205;VQSLOD=5.3726;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,98:202:99:2529,0,2768
1 1922303 1922303 C T intronic CFAP74 0.65 0.93 0.46 0.6 0.5 0.61 0.5785 0.8694 0.4862 0.6153 0.5343 0.5410 0.5404 0.6216 0.64 0.86 0.54 0.71 0.48 rs13303195 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 553.36 42 1 1922303 . C T 553.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.247;DP=42;Dels=0.00;FS=8.700;HRun=0;HaplotypeScore=0.6651;MQ=59.11;MQ0=0;MQRankSum=3.135;QD=13.18;ReadPosRankSum=0.365;VQSLOD=2.7253;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:22,20:42:99:583,0,544
1 1956362 1956362 G A intronic GABRD 0.78 0.79 0.73 0.74 0.83 0.76 0.8044 0.7944 0.7333 0.7174 0.8326 0.8335 0.8404 0.7765 0.82 0.79 0.83 0.86 . rs2376805 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2182 70 1 1956362 . G A 2182 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=31.17;VQSLOD=8.3954;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2215,172,0
1 1957037 1957037 T C exonic GABRD synonymous SNV GABRD:NM_000815:exon4:c.T330C:p.G110G 0.56 0.75 0.51 0.35 0.68 0.44 0.5934 0.7290 0.4569 0.3148 0.6309 0.6578 0.6473 0.4732 0.68 0.73 0.66 0.53 0.72 rs2229110 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 5016.54 157 1 1957037 . T C 5016.54 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7050;MQ=59.44;MQ0=0;QD=31.95;VQSLOD=7.7508;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5016,391,0
1 2121118 2121118 C T UTR3 FAAP20 NM_182533:c.*30G>A,NM_001256947:c.*98G>A,NM_001282670:c.*30G>A 0.7 0.58 0.65 0.86 0.61 0.84 0.6729 0.6015 0.6824 0.8586 0.6491 0.6203 0.6655 0.8243 0.6 0.58 0.61 0.5 . rs2503701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 628.35 37 1 2121118 . C T 628.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.067;DP=37;Dels=0.00;FS=5.816;HRun=0;HaplotypeScore=0.0000;MQ=58.47;MQ0=0;MQRankSum=-0.510;QD=16.98;ReadPosRankSum=-0.418;VQSLOD=4.5031;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:15,22:37:99:658,0,385
1 2161153 2161153 G A exonic SKI synonymous SNV SKI:NM_003036:exon1:c.G948A:p.K316K . . . . . . 0.0001 0 0.0010 0 0 0.0001 0 0 0.0002 . 0.0002 . . rs368128582 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 147.17 14 1 2161153 . G A 147.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.194;QD=10.51;ReadPosRankSum=2.517;VQSLOD=9.2967;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:177,0,217
1 2332391 2332391 C T intronic RER1 0.34 0.27 0.45 0.26 0.45 0.33 0.4124 0.2794 0.4140 0.2649 0.5402 0.4495 0.4322 0.3655 0.39 0.27 0.45 0.26 0.28 rs12037485 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1899.17 113 1 2332391 . C T 1899.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.843;DP=113;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=60.00;MQ0=0;MQRankSum=-0.940;QD=16.81;ReadPosRankSum=2.390;VQSLOD=4.7054;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:49,64:113:99:1929,0,1133
1 2340200 2340200 T C exonic PEX10 synonymous SNV PEX10:NM_002617:exon3:c.A291G:p.T97T,PEX10:NM_153818:exon3:c.A291G:p.T97T 0.7 0.57 0.77 0.73 0.79 0.7 0.7714 0.6008 0.7699 0.7265 0.8119 0.8116 0.7595 0.7258 0.74 0.6 0.82 0.54 0.74 rs2494598 . . probable-non-pathogenic not_specified single RCV000117902.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 1624.59 51 1 2340200 . T C 1624.59 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2778;MQ=59.55;MQ0=0;QD=31.85;VQSLOD=9.0933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1658,138,0
1 2409892 2409892 A G intronic PLCH2 0.71 0.74 0.67 0.79 0.63 0.69 0.6534 0.7346 0.6334 0.8065 0.6258 0.6266 0.6811 0.6550 0.66 0.73 0.63 0.73 . rs12727342 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 404.05 44 1 2409892 . A G 404.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.783;DP=44;Dels=0.00;FS=1.184;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=-0.012;QD=9.18;ReadPosRankSum=0.084;VQSLOD=5.5850;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,18:44:99:434,0,666
1 2411451 2411451 A G intronic PLCH2 0.66 0.57 0.66 0.78 0.62 0.69 0.6363 0.5991 0.6221 0.7875 0.5981 0.6208 0.6630 0.6609 0.62 0.61 0.63 0.63 . rs10797428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 636.66 39 1 2411451 . A G 636.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.585;DP=39;Dels=0.00;FS=1.412;HRun=3;HaplotypeScore=2.9930;MQ=58.27;MQ0=0;MQRankSum=0.842;QD=16.32;ReadPosRankSum=-0.014;VQSLOD=5.4005;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,23:39:99:667,0,408
1 2422614 2422614 G A intronic PLCH2 0.75 0.67 0.76 0.91 0.71 0.74 0.7480 0.7250 0.8339 0.9139 0.6873 0.7247 0.7311 0.7304 0.73 0.73 0.72 0.75 . rs2477699 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 534.91 30 1 2422614 . G A 534.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.513;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;MQRankSum=-0.317;QD=17.83;ReadPosRankSum=-0.415;VQSLOD=6.3904;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,22:30:99:565,0,154
1 2430617 2430617 C T exonic PLCH2 synonymous SNV PLCH2:NM_001303012:exon19:c.C2448T:p.I816I,PLCH2:NM_001303013:exon19:c.C2589T:p.I863I,PLCH2:NM_014638:exon19:c.C2529T:p.I843I 0.37 0.17 0.45 0.48 0.48 0.33 0.4352 0.2208 0.4693 0.5221 0.4063 0.4689 0.4543 0.3643 0.39 0.22 0.47 0.37 . rs2296442 . . . . . . . . . . . . . . . . . . . . . . 0.000 P . . . . -0.928 T 0.000 T . 0.119 4.641 -1.71 -0.659 -1.564 11.363 het 254.75 33 1 2430617 . C T 254.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.125;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.430;QD=7.72;ReadPosRankSum=0.692;VQSLOD=10.4700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,12:33:99:285,0,540
1 2444414 2444414 G A exonic PANK4 nonsynonymous SNV PANK4:NM_018216:exon13:c.C1664T:p.A555V 0.23 0.014 0.3 0.3 0.39 0.21 0.3141 0.0663 0.2257 0.3693 0.3522 0.3738 0.3457 0.2456 0.27 0.072 0.37 0.21 0.43 rs7535528 . . . . . . . . . . . . . . 0.02 D 0.769 P 0.119 B 0.364 N 1.000 P 1.585 L 3.19 T -0.867 T 0.000 T 0.359 1.822 12.05 5.59 2.635 3.927 18.568 het 2224.67 160 1 2444414 . G A 2224.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.842;DP=160;Dels=0.00;FS=4.777;HRun=0;HaplotypeScore=5.4332;MQ=59.30;MQ0=0;MQRankSum=0.874;QD=13.90;ReadPosRankSum=-1.720;VQSLOD=4.5545;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,83:160:99:2255,0,1884
1 2452569 2452569 T C exonic PANK4 synonymous SNV PANK4:NM_018216:exon3:c.A417G:p.K139K 0.85 0.91 0.81 0.96 0.73 0.79 0.7806 0.9020 0.8555 0.9625 0.6845 0.7384 0.7655 0.7655 0.8 0.9 0.74 0.87 0.71 rs2985862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1909.27 145 1 2452569 . T C 1909.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.430;DP=145;Dels=0.00;FS=2.179;HRun=1;HaplotypeScore=0.0000;MQ=59.79;MQ0=1;MQRankSum=1.065;QD=13.17;ReadPosRankSum=-0.094;VQSLOD=6.5538;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,70:145:99:1939,0,1978
1 2488153 2488153 A G exonic TNFRSF14 nonsynonymous SNV TNFRSF14:NM_001297605:exon1:c.A50G:p.K17R,TNFRSF14:NM_003820:exon1:c.A50G:p.K17R 0.61 0.78 0.53 0.54 0.47 0.67 0.5443 0.7367 0.5341 0.5096 0.5385 0.4939 0.5566 0.6529 0.56 0.73 0.47 0.53 0.38 rs4870 . . untested not_specified not RCV000122164.1 MedGen CN169374 . . . . . . 0.43 T 0.61 P 0.159 B . . 1.000 P 1.61 L -2.17 D -0.931 T 0.000 T 0.176 1.438 10.75 -1.09 -0.205 -0.251 7.533 het 146.56 16 1 2488153 . A G 146.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.573;QD=9.16;ReadPosRankSum=-2.115;VQSLOD=10.0782;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,6:16:99:177,0,265
1 2520302 2520302 T C intronic FAM213B 0.56 0.8 0.49 0.54 0.33 0.54 . . . . . . . . . . . 0.56 0.26 rs6667564 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 591.67 55 1 2520302 . T C 591.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.665;DP=55;Dels=0.00;FS=2.796;HRun=0;HaplotypeScore=2.4184;MQ=60.00;MQ0=0;MQRankSum=-0.402;QD=10.76;ReadPosRankSum=1.399;VQSLOD=5.1251;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,23:55:99:622,0,921
1 2520500 2520500 G A intronic FAM213B 0.56 0.8 0.49 0.54 0.33 0.53 0.4226 0.7504 0.4623 0.5025 0.3809 0.3393 0.4119 0.4958 0.48 0.74 0.34 0.55 0.21 rs6701238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 563.88 47 1 2520500 . G A 563.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.341;DP=47;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9970;MQ=60.00;MQ0=0;MQRankSum=0.825;QD=12.00;ReadPosRankSum=-0.099;VQSLOD=5.5571;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,22:47:99:594,0,654
1 2520527 2520527 T C intronic FAM213B 0.56 0.8 0.49 0.54 0.33 0.53 0.4243 0.7497 0.4679 0.5059 0.3825 0.3417 0.4118 0.4989 0.47 0.74 0.33 0.55 0.19 rs6670198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 435.43 31 1 2520527 . T C 435.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.261;DP=31;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.7887;MQ=60.00;MQ0=0;MQRankSum=0.217;QD=14.05;ReadPosRankSum=0.020;VQSLOD=6.3304;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,15:31:99:465,0,433
1 2520820 2520820 G A intronic FAM213B 0.001 0.0015 0.0014 . 0.001 0.001 0.0011 0.0002 0.0016 0 0.0012 0.0014 0.0011 0.0002 0.0012 . 0.0019 . . rs149857424 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1004.50 87 1 2520820 . G A 1004.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.844;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=58.55;MQ0=0;MQRankSum=0.004;QD=11.55;ReadPosRankSum=0.499;VQSLOD=4.7281;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,39:87:99:1034,0,1236
1 2524205 2524205 C T intronic MMEL1 0.5 0.61 0.45 0.53 0.31 0.54 0.3892 0.5715 0.4245 0.4881 0.3576 0.3149 0.4114 0.5092 0.4 0.57 0.32 0.42 . rs745368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1025.02 59 1 2524205 . C T 1025.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.525;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57.28;MQ0=0;MQRankSum=-0.635;QD=17.37;ReadPosRankSum=-0.400;VQSLOD=5.3431;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,37:59:99:1055,0,546
1 2524457 2524457 T C intronic MMEL1 0.54 0.73 0.49 0.53 0.33 0.54 0.4152 0.6833 0.4544 0.4945 0.3778 0.3368 0.4252 0.5148 0.46 0.68 0.33 0.49 0.2 rs745367 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 585.52 45 1 2524457 . T C 585.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.455;DP=45;Dels=0.00;FS=8.787;HRun=2;HaplotypeScore=1.8499;MQ=60.00;MQ0=0;MQRankSum=0.404;QD=13.01;ReadPosRankSum=-0.208;VQSLOD=3.9572;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,24:45:99:616,0,393
1 2526746 2526746 A G exonic MMEL1 nonsynonymous SNV MMEL1:NM_033467:exon16:c.T1553C:p.M518T 0.54 0.73 0.49 0.54 0.33 0.54 0.4142 0.6816 0.4535 0.4994 0.3765 0.3345 0.4195 0.5090 0.45 0.68 0.34 0.52 0.27 rs3748816 . . . . . . . . . . . . . . 0.77 T 0.0 B 0.0 B 0.090 N 1.000 P -1.495 N -1.51 D -1.028 T 0.000 T 0.038 -2.756 0 -5.48 -1.671 -3.199 2.161 het 779.20 62 1 2526746 . A G 779.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.317;DP=62;Dels=0.00;FS=1.044;HRun=0;HaplotypeScore=1.8934;MQ=59.63;MQ0=0;MQRankSum=0.063;QD=12.57;ReadPosRankSum=-0.768;VQSLOD=6.7565;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:809,0,840
1 2528133 2528133 T C intronic MMEL1 0.5 0.38 0.55 0.47 0.69 0.46 0.6122 0.4307 0.5769 0.5136 0.6419 0.6857 0.5957 0.4951 0.59 0.43 0.68 0.55 0.59 rs2843401 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 669.69 73 1 2528133 . T C 669.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.196;DP=73;Dels=0.00;FS=1.036;HRun=0;HaplotypeScore=0.9947;MQ=59.68;MQ0=0;MQRankSum=0.468;QD=9.17;ReadPosRankSum=-0.490;VQSLOD=6.5577;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:44,29:73:99:700,0,1148
1 2535613 2535613 C A exonic MMEL1 synonymous SNV MMEL1:NM_033467:exon10:c.G924T:p.V308V 0.5 0.61 0.45 0.53 0.31 0.53 0.3908 0.5739 0.4242 0.4897 0.3592 0.3183 0.4080 0.4999 0.4 0.57 0.32 0.45 0.16 rs4648562 . . . . . . . . . . . . . . . . . . . . . . 0.000 P . . . . . . . . . -0.946 0.350 3.52 0.930 0.369 2.464 het 749.71 64 1 2535613 . C A 749.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.083;DP=64;Dels=0.00;FS=1.422;HRun=1;HaplotypeScore=4.3874;MQ=59.64;MQ0=0;MQRankSum=1.715;QD=11.71;ReadPosRankSum=-1.083;VQSLOD=4.5776;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,30:64:99:780,0,972
1 2535758 2535758 A G intronic MMEL1 0.54 0.73 0.49 0.53 0.33 0.53 0.4134 0.6834 0.4561 0.4927 0.3756 0.3352 0.4188 0.5073 0.45 0.68 0.33 0.42 0.19 rs4648652 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1101.92 91 1 2535758 . A G 1101.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.411;DP=91;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5112;MQ=59.34;MQ0=0;MQRankSum=1.144;QD=12.11;ReadPosRankSum=-0.586;VQSLOD=4.5749;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:49,42:91:99:1132,0,1327
1 2537838 2537838 C T intronic MMEL1 0.48 0.54 0.45 0.53 0.31 0.53 0.4000 0.5256 0.4380 0.5149 0.3855 0.3306 0.4186 0.5037 0.38 0.5 0.31 0.36 0.074 rs41300092 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 216.21 19 1 2537838 . C T 216.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.931;DP=19;Dels=0.00;FS=9.863;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.124;QD=11.38;ReadPosRankSum=-0.041;VQSLOD=3.7297;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,8:19:99:246,0,258
1 2541269 2541269 A G exonic MMEL1 synonymous SNV MMEL1:NM_033467:exon5:c.T294C:p.A98A 0.53 0.7 0.49 0.54 0.33 0.53 0.4114 0.6580 0.4510 0.4963 0.3750 0.3330 0.4188 0.5257 0.44 0.66 0.33 0.51 0.23 rs10797440 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1438.58 128 1 2541269 . A G 1438.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.886;DP=128;Dels=0.00;FS=0.718;HRun=1;HaplotypeScore=4.5071;MQ=59.64;MQ0=0;MQRankSum=0.983;QD=11.24;ReadPosRankSum=-0.386;VQSLOD=5.7703;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:128:99:1469,0,1866
1 2938265 2938265 C T exonic ACTRT2 synonymous SNV ACTRT2:NM_080431:exon1:c.C15T:p.H5H 0.2 0.13 0.24 0.4 0.16 0.11 0.1941 0.1510 0.3204 0.4222 0.1367 0.1753 0.1787 0.1055 0.17 0.14 0.18 0.24 0.17 rs4576609 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 995.23 79 1 2938265 . C T 995.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.844;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4661;MQ=59.53;MQ0=0;MQRankSum=0.103;QD=12.60;ReadPosRankSum=-0.958;VQSLOD=5.7858;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,42:79:99:1025,0,925
1 2938408 2938410 AGA - exonic ACTRT2 nonframeshift deletion ACTRT2:NM_080431:exon1:c.158_160del:p.53_54del 0.11 0.011 0.22 0.19 0.16 0.046 0.1552 0.0360 0.3108 0.2243 0.1315 0.1676 0.1456 0.0454 0.12 0.036 0.17 . . rs4013154 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1707.72 93 1 2938407 . CAGA C 1707.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.003;DP=93;FS=14.114;HRun=0;HaplotypeScore=363.2259;MQ=56.20;MQ0=0;MQRankSum=-1.278;QD=18.36;ReadPosRankSum=0.166;set=variant2 GT:AD:DP:GQ:PL 0/1:51,42:93:99:1747,0,2678
1 2938697 2938697 T G exonic ACTRT2 synonymous SNV ACTRT2:NM_080431:exon1:c.T447G:p.S149S 0.21 0.17 0.24 0.4 0.16 0.098 0.1923 0.1778 0.3208 0.4170 0.1364 0.1740 0.1786 0.0906 0.18 0.17 0.18 0.25 0.18 rs3795262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 1475.26 142 1 2938697 . T G 1475.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.120;DP=142;Dels=0.00;FS=4.136;HRun=1;HaplotypeScore=6.7389;MQ=59.02;MQ0=0;MQRankSum=0.251;QD=10.39;ReadPosRankSum=-3.017;VQSLOD=3.0503;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,60:142:99:1505,0,2410
1 3301721 3301721 C T exonic PRDM16 synonymous SNV PRDM16:NM_022114:exon4:c.C444T:p.S148S,PRDM16:NM_199454:exon4:c.C444T:p.S148S 0.34 0.039 0.33 0.62 0.27 0.54 0.3295 0.0802 0.4145 0.5966 0.3095 0.2706 0.3158 0.5226 0.2 0.082 0.27 0.26 0.22 rs2282198 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 2361.94 198 1 3301721 . C T 2361.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.048;DP=198;Dels=0.00;FS=0.546;HRun=0;HaplotypeScore=4.7806;MQ=59.34;MQ0=0;MQRankSum=0.238;QD=11.93;ReadPosRankSum=-0.281;VQSLOD=5.5801;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,86:198:99:2392,0,2971
1 3328358 3328358 T C exonic PRDM16 nonsynonymous SNV PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P 0.95 0.99 0.9 1. 0.84 0.96 0.8897 0.9721 0.9243 0.9998 0.9099 0.8404 0.8873 0.9508 0.88 0.97 0.84 0.91 0.76 rs870124 . . . . . . . . . . . . . . 0.53 T 0.0 B 0.0 B 0.005 N 0.821 P -0.55 N 3.42 T -0.955 T 0.000 T 0.028 -0.285 2.636 5.33 1.290 1.977 14.274 hom 6598.71 212 1 3328358 . T C 6598.71 Mask AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4079;MQ=59.64;MQ0=0;QD=31.13;VQSLOD=7.4685;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6598,512,0
1 3342804 3342804 G T intronic PRDM16 0.38 0.44 0.34 0.52 0.28 0.28 0.2980 0.4221 0.2738 0.4897 0.2227 0.2679 0.3011 0.2917 0.32 0.41 0.27 0.42 0.16 rs870171 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 626.64 84 1 3342804 . G T 626.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.947;DP=84;Dels=0.00;FS=5.657;HRun=0;HaplotypeScore=7.3449;MQ=59.41;MQ0=0;MQRankSum=0.997;QD=7.46;ReadPosRankSum=-0.113;VQSLOD=3.7726;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,26:84:99:657,0,1556
1 3389727 3389727 C T exonic ARHGEF16 nonsynonymous SNV ARHGEF16:NM_014448:exon7:c.C1108T:p.H370Y 0.68 0.39 0.76 0.67 0.86 0.86 0.8050 0.4548 0.6769 0.6607 0.9028 0.8731 0.8497 0.8753 0.74 0.47 0.87 0.61 0.82 rs2185639 . . . . . . . . . . . . . . 0.71 T 0.011 B 0.038 B 0.000 D 0.000 P 1.355 L 0.07 T -0.940 T 0.000 T 0.255 0.546 6.952 3.43 2.269 2.105 7.811 hom 3696.05 126 1 3389727 . C T 3696.05 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9388;MQ=60.00;MQ0=0;QD=29.33;VQSLOD=5.2251;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,124:126:99:3695,310,0
1 3394456 3394456 T C exonic ARHGEF16 synonymous SNV ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S 0.97 0.9 0.99 1. 1. 1. 0.9903 0.9036 0.9943 1 1 0.9986 0.9944 0.9986 0.97 0.91 1. 0.86 0.98 rs4638054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 2735.21 93 1 3394456 . T C 2735.21 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;QD=29.41;VQSLOD=8.6753;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2768,220,0
1 3395039 3395039 G A exonic ARHGEF16 synonymous SNV ARHGEF16:NM_014448:exon12:c.G1677A:p.V559V 0.69 0.39 0.76 0.68 0.86 0.86 0.8037 0.4608 0.6739 0.6602 0.9019 0.8707 0.8517 0.8743 0.73 0.47 0.87 0.6 0.81 rs10797395 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . hom 6409.18 206 1 3395039 . G A 6409.18 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4783;MQ=59.53;MQ0=0;QD=31.11;VQSLOD=8.9549;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6408,497,0

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Sort by:


Filter by:

1000G_ALL:

1000G_AFR:

1000G_EUR:

ExAC_Freq:

ExAC_AMR:

ExAC_NFE:

ESP6500si_ALL:

CG46:

COSMIC_ID:

ClinVar_DIS:

ClinVar_ID:

ClinVar_DBID:

GWAS_DIS:

GWAS_OR:

Chr:  

Start:

End:  

Gene:
1000G_ALL:
1000G_EAS:
1000G_AFR:
Func:
exonic
exonic;splicing
splicing
UTR3
UTR5
intronic
intergenic
upstream
downstream
upstream;downstream
ncRNA_exonic
ncRNA_intronic
ncRNA_UTR3
ncRNA_UTR5
ExonicFunc:
frameshift insertion
frameshift deletion
nonframeshift deletion
nonframeshift insertion
nonsynonymous SNV
synonymous SNV
stopgain SNV
stoploss SNV
unknown