Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene phastConsElements46way genomicSuperDups esp6500si_all 1000g2012apr_all cosmic65 nci60 snp137 avsift LJB_PhyloP LJB_PhyloP_Pred LJB_SIFT LJB_SIFT_Pred LJB_PolyPhen2 LJB_PolyPhen2_Pred LJB_LRT LJB_LRT_Pred LJB_MutationTaster LJB_MutationTaster_Pred LJB_GERP++ tumor_ref tumor_var misRate_tumor normal_ref normal_var misRate_normal p-value(Fisher) strandRatio_tumor strandRatio_normal tumor_realign(total,ref,alt,freq) normal_realign(total,ref,alt,freq) p-value(Realaign) p-value(EBcall) chr1 18691910 18691910 G A exonic IGSF21 nonsynonymous SNV IGSF21:NM_032880:exon6:c.G734A:p.R245H Score=415;Name=lod=65 0.026449 0.01 rs2355877 0.13 0.128816 N 0.89 T 0.517 P 0.981021 N 0.187438 N -3.72 135 40 0.229 201 0 0.000 3.53057403257747111e-15 0.550 --- 154,117,37,0.240 175,175,0,0.000 13.332 60 chr1 113456732 113456732 G A exonic SLC16A1 synonymous SNV SLC16A1:NM_001166496:exon5:c.C1284T:p.V428V,SLC16A1:NM_003051:exon5:c.C1284T:p.V428V ID=COSM172052;OCCURENCE=2(large_intestine) 162 22 0.120 160 0 0.000 5.85933049358225005e-07 0.455 --- 155,137,18,0.116 125,124,0,0.000 4.660 13.114 chr1 155657993 155657993 C T exonic;splicing YY1AP1;YY1AP1 NM_001198906:exon3:c.48-1G>A,NM_139118:exon3:c.48-1G>A nonsynonymous SNV YY1AP1:NM_001198903:exon1:c.G263A:p.S88N,YY1AP1:NM_001198904:exon1:c.G263A:p.S88N Score=422;Name=lod=69 Score=0.945187;Name=chr1:155528928 0 211 135 0.390 306 0 0.000 1.52455231932147748e-44 0.533 --- 290,178,111,0.384 260,260,0,0.000 36.211 60 chr1 156437797 156437797 C T exonic MEF2D synonymous SNV MEF2D:NM_001271629:exon10:c.G1521A:p.R507R,MEF2D:NM_005920:exon11:c.G1542A:p.R514R Score=497;Name=lod=139 196 34 0.148 230 0 0.000 1.56005421751286008e-11 0.765 --- 207,175,32,0.155 201,201,0,0.000 9.852 15.256 chr1 159023421 159023421 G T exonic IFI16 nonsynonymous SNV IFI16:NM_001206567:exon10:c.G2016T:p.E672D,IFI16:NM_005531:exon10:c.G2016T:p.E672D 0.05 0.226449 N 1.0 D 0.048 B 0.620701 NA 0.00231 N -1.82 120 18 0.130 150 0 0.000 9.57299525954139621e-07 0.500 --- 108,94,14,0.130 112,112,0,0.000 4.525 10.202 chr2 15359013 15359013 G A exonic NBAS nonsynonymous SNV NBAS:NM_015909:exon48:c.C6316T:p.R2106C Score=374;Name=lod=44 0 0.999644 C 1.0 D 1.0 D 1.0 D 0.988746 D 5.28 230 57 0.199 306 0 0.000 4.48439135218105838e-20 0.491 --- 229,183,46,0.201 241,240,0,0.000 15.438 60 chr2 15374871 15374871 C A exonic NBAS stopgain NBAS:NM_015909:exon46:c.G5944T:p.E1982X Score=340;Name=lod=32 0.16 0.998688 C 0.905224 NA 0.71938 NA 0.909405 N 1.0 A 4.78 97 28 0.224 134 0 0.000 2.38111554390496665e-10 0.250 --- 112,90,22,0.196 114,114,0,0.000 7.208 6.252 chr2 88396140 88396140 T C exonic SMYD1 nonsynonymous SNV SMYD1:NM_198274:exon6:c.T725C:p.I242T Score=551;Name=lod=232 0 0.970079 C 1.0 D 0.983 D 1.0 D 0.99979 D 4.24 93 27 0.225 102 0 0.000 1.7287974992465318e-08 0.741 --- 103,82,21,0.204 84,84,0,0.000 5.776 13.094 chr2 152331551 152331551 G A exonic RIF1 nonsynonymous SNV RIF1:NM_001177665:exon34:c.G7307A:p.R2436H,RIF1:NM_001177663:exon35:c.G7307A:p.R2436H,RIF1:NM_001177664:exon35:c.G7307A:p.R2436H,RIF1:NM_018151:exon36:c.G7385A:p.R2462H Score=607;Name=lod=390 0 0.999628 C 1.0 D 0.999 D 1.0 D 0.791534 NA 5.26 91 21 0.188 108 0 0.000 3.60666031482644761e-07 0.381 --- 95,78,17,0.179 85,84,0,0.000 4.957 6.29 chr2 179826198 179826198 C T exonic CCDC141 nonsynonymous SNV CCDC141:NM_173648:exon5:c.G539A:p.R180Q Score=571;Name=lod=279 0.02 127 15 0.106 119 0 0.000 8.04664007940276556e-05 0.133 --- 121,107,14,0.116 102,102,0,0.000 3.843 6.552 chr2 183099217 183099217 C T exonic PDE1A nonsynonymous SNV PDE1A:NM_001258314:exon3:c.G305A:p.R102Q,PDE1A:NM_001258313:exon4:c.G359A:p.R120Q,PDE1A:NM_005019:exon4:c.G407A:p.R136Q,PDE1A:NM_001003683:exon5:c.G407A:p.R136Q,PDE1A:NM_001258312:exon5:c.G419A:p.R140Q Score=579;Name=lod=302 0 0.997996 C 0.99 D 0.997 D 1.0 D 0.848941 D 4.71 49 25 0.338 85 0 0.000 3.67793590751030903e-10 0.440 --- 59,40,18,0.310 71,70,0,0.000 6.926 10.856 chr2 233350831 233350831 C T exonic ECEL1 nonsynonymous SNV ECEL1:NM_004826:exon2:c.G533A:p.R178H Score=524;Name=lod=180 0.06 0.997827 C 0.91 T 0.976 D 1.0 D 0.99832 D 4.63 245 157 0.391 416 0 0.000 1.36568917547762059e-57 0.561 --- 349,216,132,0.379 348,348,0,0.000 46.148 60 chr3 33885605 33885605 C A exonic PDCD6IP stopgain PDCD6IP:NM_001162429:exon11:c.C1376A:p.S459X,PDCD6IP:NM_013374:exon11:c.C1361A:p.S454X Score=346;Name=lod=34 Score=0.9576;Name=chr15:23124189 0.02 0.998246 C 0.903746 NA 0.735071 NA 0.998861 N 1.0 A 4.51 33 24 0.421 53 0 0.000 7.85688286250811394e-09 0.500 --- 49,32,17,0.347 41,41,0,0.000 4.902 60 chr3 47033163 47033163 C T exonic NBEAL2 nonsynonymous SNV NBEAL2:NM_015175:exon8:c.C910T:p.R304W Score=460;Name=lod=99 0 149 91 0.379 236 0 0.000 2.6550407512817992e-32 0.440 --- 214,133,81,0.379 198,197,0,0.000 26.875 15.654 chr3 48698652 48698652 G A exonic CELSR3 synonymous SNV CELSR3:NM_001407:exon1:c.C1416T:p.F472F Score=542;Name=lod=213 237 61 0.205 269 0 0.000 3.78025372991208332e-19 0.508 --- 249,195,52,0.211 228,228,0,0.000 15.797 60 chr3 108127193 108127193 C A exonic MYH15 nonsynonymous SNV MYH15:NM_014981:exon33:c.G4614T:p.M1538I Score=471;Name=lod=109 0.21 0.998946 C 0.77 T 0.306 P 0.85409 NA 8.05E-4 N 5.3 104 65 0.385 175 0 0.000 3.53748406770765313e-24 0.538 --- 143,90,53,0.371 143,143,0,0.000 18.239 60 chr3 157178083 157178083 C T exonic VEPH1 nonsynonymous SNV VEPH1:NM_001167917:exon3:c.G416A:p.R139K,VEPH1:NM_001167911:exon4:c.G416A:p.R139K,VEPH1:NM_001167912:exon4:c.G416A:p.R139K,VEPH1:NM_001167916:exon4:c.G416A:p.R139K,VEPH1:NM_024621:exon4:c.G416A:p.R139K,VEPH1:NM_001167915:exon5:c.G416A:p.R139K Score=611;Name=lod=406 0.45 0.997968 C 0.0 T 0.0070 B 0.999978 D 0.98186 D 4.69 151 81 0.349 230 0 0.000 1.73756390933281845e-28 0.444 --- 184,121,63,0.342 181,180,0,0.000 21.360 60 chr4 135121959 135121959 G T exonic PABPC4L nonsynonymous SNV PABPC4L:NM_001114734:exon2:c.C390A:p.N130K Score=428;Name=lod=73 0 210 49 0.189 310 0 0.000 1.16789897269434857e-18 0.551 --- 209,172,37,0.177 255,255,0,0.000 13.648 60 chr5 31508787 31508787 G C exonic DROSHA nonsynonymous SNV DROSHA:NM_001100412:exon9:c.C1417G:p.R473G,DROSHA:NM_013235:exon9:c.C1528G:p.R510G Score=590;Name=lod=334 0.01 195 88 0.311 265 0 0.000 2.58787579880430598e-29 0.545 --- 220,152,68,0.309 209,209,0,0.000 22.322 60 chr5 140725814 140725814 G A exonic PCDHGA3 synonymous SNV PCDHGA3:NM_018916:exon1:c.G2214A:p.S738S,PCDHGA3:NM_032011:exon1:c.G2214A:p.S738S 0.000077 471 143 0.233 674 0 0.000 5.43484859083980422e-51 0.406 --- 526,401,125,0.238 576,576,0,0.000 43.947 7.853 chr5 161322857 161322857 A C exonic GABRA1 nonsynonymous SNV GABRA1:NM_001127648:exon8:c.A1042C:p.S348R,GABRA1:NM_001127644:exon9:c.A1042C:p.S348R,GABRA1:NM_001127645:exon9:c.A1042C:p.S348R,GABRA1:NM_000806:exon10:c.A1042C:p.S348R,GABRA1:NM_001127643:exon10:c.A1042C:p.S348R Score=610;Name=lod=401 0.08 0.998037 C 0.78 T 0.0050 B 1.0 D 0.998502 D 4.84 95 18 0.159 137 0 0.000 2.7780105676233592e-07 0.222 --- 96,78,18,0.188 116,116,0,0.000 6.609 11.246 chr6 3415986 3415986 C T exonic SLC22A23 stopgain SLC22A23:NM_015482:exon2:c.G758A:p.W253X Score=693;Name=lod=872 63 35 0.357 87 0 0.000 8.96968189164410638e-12 0.600 --- 79,50,29,0.367 69,69,0,0.000 9.045 12.139 chr6 35262281 35262281 G A exonic ZNF76 nonsynonymous SNV ZNF76:NM_003427:exon13:c.G1543A:p.A515T Score=545;Name=lod=218 0.51 0.96666 C 0.81 T 0.0010 B 0.999786 D 0.455757 N 3.1 86 29 0.252 88 0 0.000 1.3932052446554468e-08 0.552 --- 89,64,24,0.273 74,74,0,0.000 6.966 14.321 chr6 75853105 75853105 C A splicing COL12A1 NM_004370:exon27:c.4691-1G>T,NM_080645:exon12:c.1199-1G>T Score=371;Name=lod=43 140 29 0.172 160 0 0.000 1.33316449587476712e-09 0.414 --- 142,119,23,0.162 130,129,1,0.008 5.732 13.986 chr6 87725673 87725673 C T exonic HTR1E synonymous SNV HTR1E:NM_000865:exon2:c.C621T:p.H207H 0.000154 192 25 0.115 178 0 0.000 1.91583107503511875e-07 0.480 --- 198,173,25,0.126 156,156,0,0.000 6.592 13.851 chr6 163956081 163956081 T A exonic QKI nonsynonymous SNV QKI:NM_006775:exon4:c.T470A:p.V157E,QKI:NM_206853:exon4:c.T470A:p.V157E,QKI:NM_206854:exon4:c.T470A:p.V157E,QKI:NM_206855:exon4:c.T470A:p.V157E Score=707;Name=lod=992 0 0.997822 C 0.99 D 1.0 D 1.0 D 0.907811 D 5.21 163 33 0.168 155 0 0.000 1.53022840628492742e-09 0.515 --- 154,129,25,0.162 124,124,0,0.000 6.782 11.372 chr7 54617775 54617775 C A exonic VSTM2A nonsynonymous SNV VSTM2A:NM_182546:exon4:c.C546A:p.S182R Score=596;Name=lod=352 0.09 230 156 0.404 343 0 0.000 1.14977722591612776e-51 0.410 --- 323,194,129,0.399 273,273,0,0.000 40.673 60 chr7 70853381 70853381 G A exonic WBSCR17 nonsynonymous SNV WBSCR17:NM_022479:exon3:c.G583A:p.D195N Score=403;Name=lod=58 0.1 0.999699 C 0.56 T 0.031 B 1.0 D 0.994563 D 5.42 236 36 0.132 197 0 0.000 1.19177485294990995e-09 0.361 --- 214,183,31,0.145 158,158,0,0.000 7.636 7.662 chr7 141490324 141490324 C T exonic TAS2R5 stopgain TAS2R5:NM_018980:exon1:c.C163T:p.R55X 1 0.037581 N 0.831121 NA 0.532113 NA 0.743717 NA 1.0 D -4.0 314 54 0.147 256 0 0.000 1.01845239110307006e-13 0.593 --- 314,267,47,0.150 228,227,0,0.000 11.750 14.557 chr8 2026829 2026829 C T exonic MYOM2 nonsynonymous SNV MYOM2:NM_003970:exon12:c.C1277T:p.T426M Score=435;Name=lod=78 0.000077 rs200668762 0 0.997346 C 1.0 D 0.992 D 0.997207 N 0.097294 N 4.44 84 28 0.250 144 0 0.000 1.02305496163504584e-11 0.607 --- 94,72,22,0.234 119,119,0,0.000 8.487 8.394 chr8 6338316 6338316 C T exonic MCPH1 synonymous SNV MCPH1:NM_024596:exon11:c.C2055T:p.H685H Score=391;Name=lod=52 85 37 0.303 181 0 0.000 5.33048845001700968e-17 0.568 --- 94,66,28,0.298 144,144,0,0.000 12.526 60 chr8 38162161 38162161 T C exonic WHSC1L1 nonsynonymous SNV WHSC1L1:NM_023034:exon14:c.A2555G:p.K852R Score=642;Name=lod=541 0.28 0.799105 N 0.78 T 0.02 B 0.998438 U 0.248985 N 2.41 334 45 0.119 188 0 0.000 6.80736528063179353e-09 0.644 --- 303,269,34,0.112 156,153,0,0.000 6.222 10.258 chr8 85774551 85774551 G A exonic RALYL nonsynonymous SNV RALYL:NM_001100391:exon6:c.G473A:p.R158H,RALYL:NM_001100393:exon6:c.G434A:p.R145H,RALYL:NM_173848:exon6:c.G434A:p.R145H,RALYL:NM_001100392:exon7:c.G434A:p.R145H Score=419;Name=lod=67 0.0014 rs186786984 0 110 68 0.382 201 0 0.000 1.06476775667578358e-26 0.618 --- 145,85,59,0.410 161,161,0,0.000 22.670 60 chr9 98685612 98685612 A T exonic ERCC6L2 nonsynonymous SNV ERCC6L2:NM_001010895:exon9:c.A1517T:p.D506V Score=644;Name=lod=550 0.01 0.998455 C 0.94 T 0.012 B 0.999143 N 0.549318 NA 4.54 89 52 0.369 190 0 0.000 7.36824633311445285e-23 0.462 --- 111,69,42,0.378 143,142,0,0.000 17.352 60 chr10 63817042 63817042 C T exonic ARID5B nonsynonymous SNV ARID5B:NM_001244638:exon3:c.C284T:p.P95L,ARID5B:NM_032199:exon6:c.C1013T:p.P338L Score=599;Name=lod=363 0 0.999241 C 1.0 D 1.0 D 1.0 D 0.999775 D 5.61 143 36 0.201 146 0 0.000 1.15574335414798581e-10 0.361 --- 147,116,29,0.200 117,117,0,0.000 7.756 14.913 chr10 102783320 102783320 G T exonic PDZD7 nonsynonymous SNV PDZD7:NM_001195263:exon4:c.C415A:p.L139M,PDZD7:NM_024895:exon4:c.C415A:p.L139M Score=564;Name=lod=261 0.08 0.999218 C 0.87 T 0.098 B 0.993882 N 0.084253 N 3.36 133 42 0.240 170 0 0.000 3.2870791361589378e-14 0.405 --- 138,103,35,0.254 133,133,0,0.000 11.225 14.477 chr11 403682 403682 G A exonic PKP3 nonsynonymous SNV PKP3:NM_007183:exon10:c.G1988A:p.R663H Score=557;Name=lod=245 0.02 0.998617 C 0.93 T 0.999 D 0.999651 D 0.970651 D 3.94 143 28 0.164 145 0 0.000 1.42178132306744928e-08 0.429 --- 136,112,24,0.176 108,108,0,0.000 6.486 11.866 chr11 598384 598384 G A exonic PHRF1 synonymous SNV PHRF1:NM_020901:exon9:c.G906A:p.G302G Score=409;Name=lod=61 215 41 0.160 196 0 0.000 2.11011878555658367e-11 0.707 --- 212,174,37,0.175 158,158,0,0.000 9.525 8.924 chr11 63884951 63884951 G A exonic FLRT1 synonymous SNV FLRT1:NM_013280:exon2:c.G1212A:p.T404T 255 62 0.196 339 0 0.000 8.58911948753960598e-22 0.597 --- 283,224,56,0.200 276,275,0,0.000 17.834 60 chr11 110007623 110007623 G A exonic ZC3H12C nonsynonymous SNV ZC3H12C:NM_033390:exon2:c.G257A:p.S86N Score=456;Name=lod=95 0.01 277 49 0.150 299 0 0.000 3.59240204786671653e-15 0.388 --- 278,235,43,0.155 255,255,0,0.000 12.586 60 chr12 25398281 25398281 C T exonic KRAS nonsynonymous SNV KRAS:NM_004985:exon2:c.G38A:p.G13D,KRAS:NM_033360:exon2:c.G38A:p.G13D Score=706;Name=lod=982 ID=COSM532,COSM1140132;OCCURENCE=2(pleura),34(ovary),1(bone),13(breast),32(stomach),95(haematopoietic_and_lymphoid_tissue),36(soft_tissue),3(urinary_tract),29(pancreas),3(liver),1(genital_tract),3(oesophagus),12(gastrointestinal_tract_(site_indeterminate)),1(skin),20(prostate),93(lung),23(thyroid),4(cervix),2(upper_aerodigestive_tract),2978(large_intestine),9(small_intestine),18(biliary_tract),44(endometrium) 0.016 rs112445441 0 0.998873 C 1.0 D 0.994 D 1.0 D 0.999991 D 5.24 91 49 0.350 143 0 0.000 6.00140989888379412e-18 0.551 --- 117,77,40,0.342 111,111,0,0.000 13.269 60 chr12 31944946 31944946 C T exonic H3F3C nonsynonymous SNV H3F3C:NM_001013699:exon1:c.G155A:p.R52H Score=720;Name=lod=1129 Score=0.963415;Name=chr17:73773539 0.01 0.181958 N 0.99 D 0.0030 B 0.715091 U 0.999768 D -0.486 205 31 0.131 222 0 0.000 4.81750474031965573e-10 0.387 --- 204,175,28,0.138 187,187,0,0.000 8.322 14.507 chr13 49795008 49795008 G A exonic MLNR nonsynonymous SNV MLNR:NM_001507:exon1:c.G535A:p.V179I Score=499;Name=lod=142 0 0.998389 C 0.86 T 0.296 P 1.0 D 0.006019 N 4.15 305 48 0.136 272 0 0.000 2.99885925046636634e-13 0.396 --- 301,263,37,0.123 235,235,0,0.000 9.709 8.951 chr14 62542009 62542009 G A exonic SYT16 nonsynonymous SNV SYT16:NM_031914:exon3:c.G893A:p.R298H 0.01 268 41 0.133 265 0 0.000 2.68708690681898602e-12 0.415 --- 250,216,34,0.136 219,219,0,0.000 9.644 10.151 chr16 3406659 3406659 C T exonic OR2C1 nonsynonymous SNV OR2C1:NM_012368:exon1:c.C719T:p.T240M Score=284;Name=lod=19 0 0.998789 C 1.0 D 0.979 D 0.99958 D 0.104594 N 4.65 208 73 0.260 201 0 0.000 8.9744026384394115e-20 0.493 --- 239,174,65,0.272 170,170,0,0.000 16.854 60 chr17 7577539 7577539 G A exonic TP53 nonsynonymous SNV TP53:NM_001126115:exon3:c.C346T:p.R116W,TP53:NM_001126116:exon3:c.C346T:p.R116W,TP53:NM_001126117:exon3:c.C346T:p.R116W,TP53:NM_001276697:exon3:c.C265T:p.R89W,TP53:NM_001276698:exon3:c.C265T:p.R89W,TP53:NM_001276699:exon3:c.C265T:p.R89W,TP53:NM_001126118:exon6:c.C625T:p.R209W,TP53:NM_000546:exon7:c.C742T:p.R248W,TP53:NM_001126112:exon7:c.C742T:p.R248W,TP53:NM_001126113:exon7:c.C742T:p.R248W,TP53:NM_001126114:exon7:c.C742T:p.R248W,TP53:NM_001276695:exon7:c.C625T:p.R209W,TP53:NM_001276696:exon7:c.C625T:p.R209W,TP53:NM_001276760:exon7:c.C625T:p.R209W,TP53:NM_001276761:exon7:c.C625T:p.R209W Score=520;Name=lod=173 ID=COSM120006,COSM120005,COSM10656,COSM120007;OCCURENCE=1(vulva),31(ovary),1(bone),57(breast),1(penis),26(stomach),25(haematopoietic_and_lymphoid_tissue),5(soft_tissue),20(urinary_tract),2(kidney),10(pancreas),4(liver),45(oesophagus),23(skin),3(prostate),20(lung),3(thyroid),1(cervix),20(upper_aerodigestive_tract),132(large_intestine),31(central_nervous_system),9(biliary_tract),18(endometrium) rs121912651 0 0.957443 C 1.0 D 1.0 D 1.0 D 1.0 D 1.56 41 36 0.468 82 0 0.000 1.78893688361357828e-14 0.389 --- 60,32,28,0.467 62,61,0,0.000 10.345 60 chr17 10428767 10428767 C T splicing MYH2 NM_001100112:exon33:c.4537+1G>A,NM_017534:exon33:c.4537+1G>A Score=593;Name=lod=344 ID=COSM1216197;OCCURENCE=1(large_intestine) 100 67 0.401 199 0 0.000 1.78891202651353207e-27 0.463 --- 153,91,62,0.405 183,183,0,0.000 24.853 60 chr17 61568700 61568700 G T exonic ACE nonsynonymous SNV ACE:NM_001178057:exon8:c.G1148T:p.C383F,ACE:NM_152830:exon8:c.G1148T:p.C383F,ACE:NM_000789:exon19:c.G2870T:p.C957F Score=506;Name=lod=152 0 0.999508 C 1.0 D 1.0 D 1.0 D 0.999969 D 5.04 158 37 0.190 194 0 0.000 2.20416351837288909e-12 0.568 --- 159,127,32,0.201 150,148,1,0.007 8.614 60 chr17 76201707 76201707 C T exonic AFMID nonsynonymous SNV AFMID:NM_001010982:exon9:c.C668T:p.P223L,AFMID:NM_001145526:exon9:c.C668T:p.P223L Score=412;Name=lod=63 ID=COSM985061;OCCURENCE=1(endometrium) 0.01 0.997382 C 1.0 D 1.0 D 1.0 D 0.995165 D 4.48 121 142 0.540 212 0 0.000 1.98881825387212094e-47 0.585 --- 225,104,119,0.534 167,167,0,0.000 36.934 60 chr18 44036510 44036510 C A exonic RNF165 nonsynonymous SNV RNF165:NM_001256758:exon6:c.C376A:p.Q126K,RNF165:NM_152470:exon8:c.C952A:p.Q318K Score=689;Name=lod=839 0.25 0.998073 C 0.75 T 0.484 P 1.0 D 0.967024 D 4.75 65 13 0.167 107 0 0.000 7.10926844724026898e-06 0.923 --- 69,55,13,0.191 87,87,0,0.000 4.959 7.071 chr19 13409885 13409885 G A exonic CACNA1A synonymous SNV CACNA1A:NM_001127221:exon19:c.C2565T:p.A855A,CACNA1A:NM_001127222:exon19:c.C2562T:p.A854A 179 42 0.190 221 0 0.000 2.63883401391908623e-14 0.333 --- 196,158,37,0.190 189,189,0,0.000 11.590 60 chr19 38229731 38229731 A C exonic ZNF573 nonsynonymous SNV ZNF573:NM_001172692:exon4:c.T1396G:p.F466V,ZNF573:NM_001172690:exon5:c.T1660G:p.F554V,ZNF573:NM_001172691:exon5:c.T1654G:p.F552V,ZNF573:NM_001172689:exon6:c.T1396G:p.F466V,ZNF573:NM_152360:exon8:c.T1486G:p.F496V Score=399;Name=lod=56 0 0.971818 C 1.0 D 0.53331 NA 0.850813 NA 0.011239 N 1.92 162 33 0.169 146 0 0.000 4.6422732283295406e-09 0.515 --- 164,139,25,0.152 133,133,0,0.000 6.782 11.752 chr19 39908214 39908214 C T exonic PLEKHG2 nonsynonymous SNV PLEKHG2:NM_022835:exon8:c.C764T:p.A255V Score=437;Name=lod=80 0.045748 0.03 0.066 rs73033371 0.01 0.825831 N 0.99 D 0.958 D 0.997205 N 1.0 D -0.0472 157 81 0.340 194 0 0.000 1.17234582575627834e-24 0.580 --- 198,125,73,0.369 151,151,0,0.000 20.985 3.334 chr19 40368539 40368539 C T exonic FCGBP nonsynonymous SNV FCGBP:NM_003890:exon28:c.G12809A:p.R4270Q Score=0.986349;Name=chr19:40384255 0.2 0.001923 N 0.47 T 0.977 D 0.242529 N 0.011915 N -6.03 373 80 0.177 414 0 0.000 7.45025546808168923e-25 0.488 --- 363,298,64,0.177 332,332,0,0.000 19.285 4.429 chr19 50243138 50243138 G A exonic TSKS synonymous SNV TSKS:NM_021733:exon11:c.C1674T:p.H558H Score=484;Name=lod=124 0.000154 rs200685609 105 24 0.186 122 0 0.000 4.49665229629315519e-08 0.625 --- 111,91,20,0.180 100,99,0,0.000 5.890 9.531 chr19 53014150 53014150 C T exonic ZNF578 synonymous SNV ZNF578:NM_001099694:exon6:c.C516T:p.P172P Score=0.906942;Name=chr19:53031774 0.000461 rs61743936 124 72 0.367 167 0 0.000 3.80275378924386181e-23 0.472 --- 166,104,62,0.373 144,144,0,0.000 19.637 60 chr19 55107718 55107718 C T exonic LILRA1 synonymous SNV LILRA1:NM_006863:exon7:c.C1023T:p.N341N Score=0.90772;Name=chr19:55084748 127 62 0.328 197 0 0.000 1.28921243299746908e-22 0.597 --- 161,110,50,0.312 160,160,0,0.000 16.728 60 chr20 31761930 31761930 G A exonic BPIFA2 synonymous SNV BPIFA2:NM_080574:exon4:c.G348A:p.P116P 190 41 0.177 119 0 0.000 1.81696609475023796e-08 0.659 --- 191,157,34,0.178 97,97,0,0.000 6.453 9.232 chr20 44676143 44676143 G A exonic SLC12A5 nonsynonymous SNV SLC12A5:NM_001134771:exon15:c.G1907A:p.C636Y,SLC12A5:NM_020708:exon15:c.G1838A:p.C613Y Score=609;Name=lod=398 0 0.998623 C 1.0 D 0.928 D 1.0 D 0.99928 D 3.74 425 100 0.190 206 0 0.000 3.06825992330456154e-16 0.520 --- 420,333,87,0.207 166,166,0,0.000 13.745 60 chr22 24581087 24581087 G A exonic SUSD2 nonsynonymous SNV SUSD2:NM_019601:exon6:c.G808A:p.D270N Score=385;Name=lod=49 0.09 0.998086 C 0.9 T 0.427 P 0.972412 N 0.031639 N 4.02 70 48 0.407 135 0 0.000 2.05492302568895941e-19 0.708 --- 102,58,44,0.431 123,123,0,0.000 17.928 60 chr22 45732257 45732257 T C exonic FAM118A nonsynonymous SNV FAM118A:NM_017911:exon8:c.T1019C:p.I340T,FAM118A:NM_001104595:exon9:c.T1019C:p.I340T 0.12 0.998125 C 0.94 T 0.0 B 0.7205 N 0.360307 N 5.38 41 39 0.488 90 0 0.000 2.49736059355285475e-16 0.564 --- 62,30,32,0.516 72,72,0,0.000 13.242 60 chrX 63412056 63412056 C A exonic AMER1 stopgain AMER1:NM_152424:exon2:c.G1111T:p.E371X Score=680;Name=lod=771 0 0.999392 C 0.90382 NA 0.73546 NA 0.999999 D 1.0 A 4.74 89 165 0.650 183 0 0.000 6.15492367230901299e-55 0.539 --- 221,77,144,0.652 159,159,0,0.000 47.226 60 chrX 71521810 71521810 G A exonic CITED1 synonymous SNV CITED1:NM_001144886:exon3:c.C345T:p.P115P,CITED1:NM_001144887:exon3:c.C345T:p.P115P,CITED1:NM_004143:exon3:c.C345T:p.P115P,CITED1:NM_001144885:exon4:c.C423T:p.P141P 37 93 0.715 69 0 0.000 2.4347747298421871e-26 0.495 --- 124,33,89,0.730 63,63,0,0.000 24.529 60