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 17945924 17945924 G T exonic ARHGEF10L nonsynonymous SNV ARHGEF10L:NM_001011722:exon8:c.G809T:p.G270V,ARHGEF10L:NM_018125:exon10:c.G926T:p.G309V Score=480;Name=lod=119 0 0.998657 C 1.0 D 0.996 D 1.0 D 0.999114 D 4.29 50 20 0.286 115 0 0.000 5.18180018694935545e-10 0.600 --- 60,44,16,0.267 97,97,0,0.000 7.295 6.587 chr1 19175932 19175932 C T exonic TAS1R2 nonsynonymous SNV TAS1R2:NM_152232:exon4:c.G1370A:p.R457Q 0.001076 ID=COSM1228511;OCCURENCE=1(large_intestine) rs147544201 0.38 3.84E-4 N 0.52 T 0.0010 B 1.98E-4 N 6.5E-5 N -9.34 124 71 0.364 239 3 0.012 4.53052770666254542e-25 0.394 0.333 165,106,59,0.358 189,187,2,0.011 19.608 60 chr1 29639085 29639085 G A exonic PTPRU nonsynonymous SNV PTPRU:NM_001195001:exon22:c.G3085A:p.E1029K,PTPRU:NM_133178:exon22:c.G3094A:p.E1032K,PTPRU:NM_005704:exon23:c.G3124A:p.E1042K,PTPRU:NM_133177:exon23:c.G3112A:p.E1038K Score=566;Name=lod=266 0.000077 0 0.999456 C 1.0 D 0.972 D 1.0 D 0.997469 D 3.88 103 20 0.163 152 0 0.000 4.06855925303147649e-08 0.700 --- 106,91,15,0.142 125,125,0,0.000 5.324 7.475 chr1 89521759 89521759 A G exonic GBP1 synonymous SNV GBP1:NM_002053:exon8:c.T1308C:p.F436F Score=0.925615;Name=chr1:89864783 89 24 0.212 151 0 0.000 3.02336135980681117e-10 0.583 --- 94,77,17,0.181 122,122,0,0.000 6.531 15.477 chr1 114483215 114483215 C T exonic HIPK1 synonymous SNV HIPK1:NM_152696:exon2:c.C210T:p.Y70Y,HIPK1:NM_198268:exon2:c.C210T:p.Y70Y Score=515;Name=lod=165 0.000154 162 23 0.124 252 0 0.000 1.12241975628205513e-09 0.478 --- 161,141,20,0.124 208,208,0,0.000 7.511 11.894 chr1 156235884 156235884 C T exonic SMG5 nonsynonymous SNV SMG5:NM_015327:exon12:c.G1543A:p.E515K Score=571;Name=lod=279 0.07 0.998767 C 0.77 T 0.06 B 0.999944 D 0.59991 D 5.16 135 67 0.332 298 0 0.000 1.80453314171854692e-30 0.522 --- 179,118,61,0.341 248,248,0,0.000 26.123 60 chr1 160011508 160011508 C T exonic KCNJ10 nonsynonymous SNV KCNJ10:NM_002241:exon2:c.G815A:p.S272N Score=651;Name=lod=591 1 0.984441 C 0.25 T 0.122 B 0.999927 D 0.539761 D 3.66 92 44 0.324 139 0 0.000 5.21916414148040513e-16 0.500 --- 123,83,40,0.325 120,119,1,0.008 11.950 60 chr1 160269000 160269000 C T exonic COPA synonymous SNV COPA:NM_001098398:exon18:c.G1749A:p.K583K,COPA:NM_004371:exon18:c.G1722A:p.K574K Score=658;Name=lod=627 79 31 0.282 159 0 0.000 5.10259582958883025e-14 0.355 --- 99,71,28,0.283 127,127,0,0.000 11.117 60 chr1 161163522 161163522 G A exonic ADAMTS4 nonsynonymous SNV ADAMTS4:NM_005099:exon6:c.C1643T:p.T548M Score=573;Name=lod=285 0.01 0.990922 C 1.0 D 0.95 D 0.996041 N 0.549391 D 3.6 97 84 0.464 155 0 0.000 2.03251530195597344e-28 0.524 --- 154,82,72,0.468 125,124,0,0.000 22.549 60 chr1 182026052 182026052 G A exonic ZNF648 nonsynonymous SNV ZNF648:NM_001009992:exon2:c.C1094T:p.P365L Score=578;Name=lod=297 ID=COSM208797;OCCURENCE=1(large_intestine) 0.03 0.94166 N 0.95 T 0.995 D 0.928209 NA 0.429546 N 0.894 201 107 0.347 359 0 0.000 7.5723954102234409e-42 0.486 --- 277,181,93,0.339 300,300,0,0.000 34.148 60 chr1 197390856 197390856 T C exonic CRB1 nonsynonymous SNV CRB1:NM_001193640:exon4:c.T1562C:p.M521T,CRB1:NM_001257966:exon6:c.T1898C:p.M633T,CRB1:NM_201253:exon6:c.T1898C:p.M633T,CRB1:NM_001257965:exon8:c.T1691C:p.M564T 0.18 0.093104 N 0.95 T 0.01 B 0.58387 NA 2.0E-6 N -2.35 87 47 0.351 171 0 0.000 6.88065143091927321e-20 0.447 --- 120,76,44,0.367 143,143,0,0.000 17.272 60 chr1 200860730 200860730 G A exonic C1orf106 nonsynonymous SNV C1orf106:NM_018265:exon1:c.G104A:p.R35Q 0.0005 rs200890960 0.36 0.876982 N 1.0 D 0.34 P 0.013447 N 0.038423 N -1.32 103 59 0.364 152 0 0.000 3.90206812658799973e-20 0.593 --- 132,79,52,0.397 118,118,0,0.000 17.096 60 chr1 213403839 213403839 G A splicing RPS6KC1 NM_001136138:exon8:c.1009-1G>A,NM_012424:exon9:c.1045-1G>A Score=590;Name=lod=332 40 22 0.355 60 0 0.000 5.14870810851743664e-08 0.636 --- 47,28,18,0.391 46,46,0,0.000 6.018 13.366 chr1 228462398 228462398 C A exonic OBSCN nonsynonymous SNV OBSCN:NM_001098623:exon20:c.C5809A:p.L1937M,OBSCN:NM_052843:exon20:c.C5809A:p.L1937M,OBSCN:NM_001271223:exon24:c.C6934A:p.L2312M 0.07 110 29 0.209 187 1 0.005 5.02611550632000156e-11 0.483 0.000 128,102,26,0.203 162,161,1,0.006 8.688 12.401 chr2 5833500 5833500 C T exonic SOX11 nonsynonymous SNV SOX11:NM_003108:exon1:c.C647T:p.T216M Score=519;Name=lod=171 0.01 0.99297 C 1.0 D 0.526816 NA 0.810257 U 0.004553 N 3.04 113 48 0.298 243 0 0.000 4.8815116131805434e-22 0.833 --- 135,94,41,0.304 209,208,0,0.000 18.472 60 chr2 28081427 28081427 C T exonic RBKS nonsynonymous SNV RBKS:NM_022128:exon2:c.G101A:p.R34H Score=534;Name=lod=197 0.000077 0 0.999129 C 1.0 D 0.997 D 0.99994 D 0.998859 D 5.49 59 27 0.314 104 0 0.000 3.61720108032794309e-11 0.333 --- 76,52,24,0.316 88,88,0,0.000 9.019 9.446 chr2 68882135 68882135 G A exonic PROKR1 synonymous SNV PROKR1:NM_138964:exon2:c.G609A:p.E203E Score=289;Name=lod=20 122 54 0.307 263 0 0.000 1.21837712557164555e-24 0.556 --- 146,97,48,0.331 220,220,0,0.000 21.663 60 chr2 84832698 84832698 C T exonic DNAH6 synonymous SNV DNAH6:NM_001370:exon20:c.C3156T:p.G1052G ID=COSM1409723;OCCURENCE=1(large_intestine) 45 23 0.338 106 0 0.000 2.7836491654126192e-11 0.435 --- 56,38,18,0.321 80,80,0,0.000 7.759 15.955 chr2 141072660 141072660 A G exonic LRP1B nonsynonymous SNV LRP1B:NM_018557:exon83:c.T12649C:p.C4217R Score=631;Name=lod=489 0.01 0.999193 C 1.0 D 0.999 D 0.999956 D 0.937288 D 5.71 48 15 0.238 78 0 0.000 1.99593060166100514e-06 0.267 --- 53,41,12,0.226 65,65,0,0.000 4.505 13.051 chr2 179639069 179639069 A T exonic TTN nonsynonymous SNV TTN:NM_003319:exon29:c.T6784A:p.S2262T,TTN:NM_133432:exon29:c.T6784A:p.S2262T,TTN:NM_133437:exon29:c.T6784A:p.S2262T,TTN:NM_001256850:exon30:c.T6922A:p.S2308T,TTN:NM_001267550:exon30:c.T6922A:p.S2308T,TTN:NM_133378:exon30:c.T6922A:p.S2308T,TTN:NM_133379:exon30:c.T6922A:p.S2308T Score=666;Name=lod=676 0.27 0.998574 C 0.46 T 0.384487 NA 0.953686 NA 0.58246 D 5.17 125 20 0.138 197 0 0.000 1.571743338127109e-08 0.300 --- 117,99,18,0.154 160,160,0,0.000 7.091 15.176 chr2 197008343 197008343 G A exonic STK17B nonsynonymous SNV STK17B:NM_004226:exon5:c.C548T:p.S183F Score=552;Name=lod=234 0 0.999718 C 1.0 D 1.0 D 0.999934 D 0.924469 D 4.94 85 14 0.141 147 0 0.000 1.62474409575902335e-06 0.571 --- 85,73,12,0.141 121,121,0,0.000 4.825 7.558 chr2 217234732 217234732 G A exonic MARCH4 synonymous SNV MARCH4:NM_020814:exon1:c.C252T:p.A84A Score=692;Name=lod=864 139 22 0.137 198 0 0.000 9.34162924646986581e-09 0.591 --- 147,128,19,0.129 165,165,0,0.000 6.495 5.603 chr2 220500191 220500191 C T exonic SLC4A3 nonsynonymous SNV SLC4A3:NM_005070:exon13:c.C1945T:p.R649W,SLC4A3:NM_201574:exon13:c.C2026T:p.R676W Score=300;Name=lod=22 0.03 0.009549 N 0.81 T 0.25 P 0.266695 N 0.009041 N 4.57 66 34 0.340 127 0 0.000 1.81813747294528549e-14 0.235 --- 93,62,31,0.333 111,111,0,0.000 11.990 60 chr2 240098157 240098157 G A exonic HDAC4 nonsynonymous SNV HDAC4:NM_006037:exon5:c.C442T:p.R148W Score=577;Name=lod=294 0.000077 rs140596122 0 0.997327 C 0.98 D 0.999 D 0.999999 D 0.999124 D 2.69 106 20 0.159 126 0 0.000 8.41603297679824744e-07 0.300 --- 107,89,18,0.168 105,105,0,0.000 5.453 8.638 chr3 33114105 33114105 C T exonic GLB1 nonsynonymous SNV GLB1:NM_000404:exon2:c.G176A:p.R59H,GLB1:NM_001079811:exon2:c.G86A:p.R29H,GLB1:NM_001135602:exon2:c.G176A:p.R59H Score=393;Name=lod=53 0.000161 rs72555392 0 0.998938 C 1.0 D 1.0 D 1.0 D 0.999849 D 5.3 180 146 0.448 302 0 0.000 3.52696864238684089e-51 0.432 --- 272,150,121,0.446 239,238,0,0.000 40.211 60 chr3 38519422 38519422 G T exonic ACVR2B stopgain ACVR2B:NM_001106:exon3:c.G331T:p.E111X Score=609;Name=lod=399 0.3 0.998873 C 0.903778 NA 0.735374 NA 0.999998 D 1.0 A 3.08 116 16 0.121 135 0 0.000 7.81338996943358219e-06 0.438 --- 108,94,14,0.130 111,110,1,0.009 3.528 9.052 chr3 39178998 39178998 C A exonic TTC21A nonsynonymous SNV TTC21A:NM_001105513:exon25:c.C3349A:p.L1117M,TTC21A:NM_145755:exon26:c.C3493A:p.L1165M Score=602;Name=lod=372 0.01 0.801861 N 0.98 D 0.85 P 0.991992 N 0.724228 D -0.667 214 24 0.101 202 0 0.000 3.400155792419708e-07 0.417 --- 219,196,23,0.105 184,184,0,0.000 6.169 10.025 chr3 46875381 46875381 C A exonic PRSS42 nonsynonymous SNV PRSS42:NM_182702:exon1:c.G205T:p.D69Y Score=265;Name=lod=16 0.08 99 79 0.444 192 0 0.000 6.92150251810208322e-31 0.671 --- 160,89,71,0.444 157,157,0,0.000 25.362 60 chr3 50312799 50312799 G A exonic SEMA3B unknown UNKNOWN Score=609;Name=lod=397 0 230 100 0.303 284 0 0.000 4.26902654084765162e-31 0.660 --- 277,197,80,0.289 240,239,0,0.000 24.198 60 chr3 52853477 52853477 A T exonic ITIH4 nonsynonymous SNV ITIH4:NM_001166449:exon15:c.T1919A:p.L640H,ITIH4:NM_002218:exon17:c.T2009A:p.L670H 0.48 0.02754 N 0.93 T 0.0050 B 8.0E-6 N 0.025381 N -2.99 152 26 0.146 155 0 0.000 5.88181825379550438e-08 0.308 --- 144,123,21,0.146 124,123,0,0.000 5.682 12.122 chr3 62355790 62355790 C T exonic FEZF2 nonsynonymous SNV FEZF2:NM_018008:exon5:c.G1348A:p.A450T Score=510;Name=lod=157 0.83 0.928391 N 1.0 D 0.539587 NA 0.925195 N 0.001167 N 1.11 164 46 0.219 238 0 0.000 3.87352649625757716e-17 0.522 --- 168,129,39,0.232 193,193,0,0.000 14.112 60 chr3 113085055 113085055 C T exonic WDR52 stopgain WDR52:NM_001164496:exon19:c.G2546A:p.W849X,WDR52:NM_018338:exon19:c.G2546A:p.W849X Score=369;Name=lod=42 0.998974 C 0.903551 NA 0.737964 NA 1.0 NA 1.0 A 5.34 120 80 0.400 220 0 0.000 5.09704257040002144e-31 0.463 --- 170,99,70,0.414 178,176,0,0.000 25.719 60 chr3 123010123 123010123 C T exonic ADCY5 nonsynonymous SNV ADCY5:NM_001199642:exon18:c.G2114A:p.R705H,ADCY5:NM_183357:exon18:c.G3164A:p.R1055H Score=605;Name=lod=383 ID=COSM73589;OCCURENCE=1(ovary) 0.998014 C 0.95 T 0.713 P 0.999972 D 0.991614 D 4.18 214 65 0.233 248 0 0.000 3.60422087154604276e-20 0.369 --- 249,190,59,0.237 204,204,0,0.000 16.789 60 chr3 129292561 129292561 C T exonic PLXND1 nonsynonymous SNV PLXND1:NM_015103:exon13:c.G2713A:p.G905S Score=284;Name=lod=19 0 0.997736 C 1.0 D 0.997 D 0.999919 D 0.999996 D 4.59 77 68 0.469 153 1 0.006 4.51205436590746245e-25 0.441 0.000 116,65,51,0.440 125,124,1,0.008 17.853 60 chr3 193156375 193156375 T C splicing ATP13A4 NM_032279:exon24:c.2563-2A>G Score=552;Name=lod=234 87 21 0.194 91 0 0.000 1.58166009566637774e-06 0.429 --- 86,70,16,0.186 69,69,0,0.000 4.208 12.843 chr4 2453061 2453061 T C exonic LOC402160 nonsynonymous SNV LOC402160:NM_001193282:exon10:c.T938C:p.V313A Score=495;Name=lod=137 59 30 0.337 135 0 0.000 2.82673748938524184e-14 0.567 --- 79,53,26,0.329 106,106,0,0.000 10.825 11.707 chr4 2951929 2951929 C A exonic NOP14 nonsynonymous SNV NOP14:NM_003703:exon8:c.G1014T:p.M338I Score=309;Name=lod=24 0.38 0.998541 C 0.63 T 0.435 P 0.999889 D 0.081459 N 3.86 91 13 0.125 103 0 0.000 0.00016377576009195507 0.308 --- 91,78,13,0.143 92,91,1,0.011 3.212 8.62 chr4 41621300 41621300 C A exonic LIMCH1 nonsynonymous SNV LIMCH1:NM_001112719:exon3:c.C316A:p.P106T,LIMCH1:NM_001112720:exon3:c.C316A:p.P106T,LIMCH1:NM_001112717:exon8:c.C778A:p.P260T,LIMCH1:NM_001112718:exon8:c.C778A:p.P260T,LIMCH1:NM_014988:exon8:c.C778A:p.P260T Score=464;Name=lod=103 0.01 0.99918 C 0.99 D 0.869 D 0.998181 N 0.124593 N 5.54 136 74 0.352 214 0 0.000 9.50754182352562365e-27 0.527 --- 176,114,62,0.352 181,181,0,0.000 21.929 60 chr4 48564908 48564908 G C exonic FRYL nonsynonymous SNV FRYL:NM_015030:exon32:c.C3694G:p.Q1232E Score=437;Name=lod=80 0.02 0.999796 C 0.897466 NA 0.720248 NA 1.0 D 0.948456 D 5.71 32 7 0.179 69 0 0.000 0.000551619863508145399 0.714 --- 34,28,6,0.176 54,54,0,0.000 2.605 4.924 chr4 114279596 114279596 C T exonic ANK2 synonymous SNV ANK2:NM_001148:exon38:c.C9822T:p.P3274P 0.000077 rs144939151 118 64 0.352 199 0 0.000 2.5607035369857471e-24 0.453 --- 166,107,58,0.352 173,173,0,0.000 20.776 60 chr4 120986857 120986857 A G exonic MAD2L1 nonsynonymous SNV MAD2L1:NM_002358:exon2:c.T190C:p.Y64H Score=654;Name=lod=609 0 0.997777 C 1.0 D 0.999 D 1.0 D 0.999986 D 4.73 61 29 0.322 93 0 0.000 7.46766326017806904e-11 0.759 --- 82,57,25,0.305 78,78,0,0.000 8.086 12.971 chr4 153245453 153245453 G T exonic FBXW7 nonsynonymous SNV FBXW7:NM_001013415:exon10:c.C1384A:p.H462N,FBXW7:NM_018315:exon10:c.C1498A:p.H500N,FBXW7:NM_033632:exon11:c.C1738A:p.H580N Score=760;Name=lod=1635 0.07 0.999673 C 0.92 T 1.0 D 1.0 D 0.999958 D 5.35 46 20 0.303 126 0 0.000 5.94821446762546938e-11 0.300 --- 55,37,18,0.327 97,97,0,0.000 8.853 60 chr4 153332769 153332769 C A exonic FBXW7 stopgain FBXW7:NM_033632:exon2:c.G187T:p.E63X,FBXW7:NM_001257069:exon4:c.G187T:p.E63X Score=485;Name=lod=125 0.22 0.983405 C 0.917396 NA 0.570526 NA 0.078964 N 1.0 A 4.26 121 58 0.324 231 0 0.000 2.73608691925634167e-24 0.517 --- 154,100,54,0.351 188,188,0,0.000 21.397 60 chr5 31526809 31526809 G A exonic DROSHA synonymous SNV DROSHA:NM_013235:exon4:c.C231T:p.D77D,DROSHA:NM_001100412:exon5:c.C231T:p.D77D Score=489;Name=lod=130 161 20 0.110 153 0 0.000 5.12906573710779176e-06 0.950 --- 166,141,24,0.145 127,127,0,0.000 6.043 5.397 chr5 80390773 80390773 C T exonic RASGRF2 nonsynonymous SNV RASGRF2:NM_006909:exon12:c.C1717T:p.R573C Score=519;Name=lod=172 0.02 0.999103 C 0.99 D 0.998 D 1.0 D 0.801385 D 5.47 163 52 0.242 153 0 0.000 4.18394763489466692e-14 0.500 --- 177,133,44,0.249 116,116,0,0.000 10.588 60 chr5 112173917 112173917 C T exonic APC stopgain APC:NM_001127511:exon14:c.C2572T:p.R858X,APC:NM_000038:exon16:c.C2626T:p.R876X,APC:NM_001127510:exon17:c.C2626T:p.R876X Score=673;Name=lod=725 ID=COSM18852;OCCURENCE=1(breast),1(lung),39(large_intestine) rs121913333 1 0.935883 N 0.898746 NA 0.725015 NA 1.0 D 1.0 D 3.08 123 110 0.472 174 0 0.000 8.49140605972725734e-34 0.464 --- 197,99,97,0.495 150,150,0,0.000 30.051 60 chr5 112175153 112175153 G T exonic APC stopgain APC:NM_001127511:exon14:c.G3808T:p.G1270X,APC:NM_000038:exon16:c.G3862T:p.G1288X,APC:NM_001127510:exon17:c.G3862T:p.G1288X Score=518;Name=lod=170 ID=COSM19577;OCCURENCE=3(large_intestine) 0.02 0.999788 C 0.903851 NA 0.735525 NA 0.999999 D 1.0 D 5.68 112 37 0.248 153 0 0.000 3.34145297657348869e-13 0.595 --- 134,100,34,0.254 128,128,0,0.000 10.854 60 chr5 129240663 129240663 C T exonic CHSY3 synonymous SNV CHSY3:NM_175856:exon1:c.C141T:p.Y47Y Score=619;Name=lod=436 76 13 0.146 117 0 0.000 1.07118960470575173e-05 0.692 --- 76,63,13,0.171 95,95,0,0.000 4.848 6.022 chr5 136975646 136975646 G A exonic KLHL3 synonymous SNV KLHL3:NM_001257195:exon7:c.C678T:p.G226G,KLHL3:NM_001257194:exon9:c.C828T:p.G276G,KLHL3:NM_017415:exon9:c.C924T:p.G308G Score=412;Name=lod=63 76 15 0.165 125 0 0.000 1.13435775497040528e-06 0.267 --- 73,61,12,0.164 102,102,0,0.000 4.804 12.163 chr5 140755345 140755345 C T exonic PCDHGA6 synonymous SNV PCDHGA6:NM_018919:exon1:c.C1695T:p.P565P,PCDHGA6:NM_032086:exon1:c.C1695T:p.P565P 501 159 0.241 626 0 0.000 2.24950816131433642e-51 0.591 --- 579,441,138,0.238 544,544,0,0.000 43.317 60 chr5 146889237 146889237 G A exonic DPYSL3 nonsynonymous SNV DPYSL3:NM_001197294:exon1:c.C185T:p.A62V Score=670;Name=lod=705 0.05 310 90 0.225 391 0 0.000 9.17045085834696346e-30 0.456 --- 345,266,78,0.227 323,322,0,0.000 24.335 60 chr5 179193205 179193205 G A exonic MAML1 synonymous SNV MAML1:NM_014757:exon2:c.G1194A:p.Q398Q Score=592;Name=lod=338 168 53 0.240 175 0 0.000 1.72937622577080396e-15 0.547 --- 191,146,45,0.236 150,150,0,0.000 12.351 7.181 chr6 32819938 32819938 C T exonic TAP1 synonymous SNV TAP1:NM_000593:exon3:c.G972A:p.V324V Score=483;Name=lod=123 152 22 0.126 231 0 0.000 3.78782229245872312e-09 0.591 --- 141,119,21,0.150 185,185,0,0.000 8.080 9.438 chr6 43320118 43320118 G A exonic ZNF318 stopgain ZNF318:NM_014345:exon5:c.C2767T:p.Q923X Score=518;Name=lod=170 0 0.999646 C 0.90384 NA 0.7355 NA 0.999989 D 1.0 A 5.28 44 40 0.476 75 0 0.000 2.78710642262148424e-14 0.550 --- 70,38,32,0.457 61,60,0,0.000 10.438 60 chr6 44253898 44253898 C T exonic TCTE1 nonsynonymous SNV TCTE1:NM_182539:exon3:c.G649A:p.E217K Score=333;Name=lod=30 0.02 0.997877 C 0.98 D 0.47 P 0.999915 D 0.04645 N 4.66 188 38 0.168 230 0 0.000 4.69466896302910418e-13 0.395 --- 196,161,35,0.179 184,184,0,0.000 10.729 60 chr6 88049924 88049924 G A exonic SMIM8 nonsynonymous SNV SMIM8:NM_020425:exon3:c.G226A:p.D76N,SMIM8:NM_001042493:exon4:c.G226A:p.D76N Score=648;Name=lod=576 0.17 0.992327 C 0.71 T 0.0 B 0.999894 N 0.339196 N 4.55 88 44 0.333 175 0 0.000 5.65589454139846868e-19 0.477 --- 106,71,35,0.330 137,137,0,0.000 14.249 60 chr6 108070954 108070954 C T exonic SCML4 nonsynonymous SNV SCML4:NM_198081:exon3:c.G220A:p.D74N Score=524;Name=lod=179 0.05 0.972712 C 0.96 D 0.97 D 0.954829 N 0.963944 D 3.8 72 37 0.339 135 0 0.000 1.94305710272393092e-15 0.486 --- 82,56,26,0.317 101,101,0,0.000 10.189 13.106 chr6 112671628 112671628 C A exonic RFPL4B nonsynonymous SNV RFPL4B:NM_001013734:exon3:c.C718A:p.L240I 0.099763 N 0.51 T 0.085 B 0.967423 N 0.325932 NA -1.55 62 28 0.311 134 0 0.000 4.28495135553823146e-13 0.500 --- 79,53,26,0.329 112,112,0,0.000 11.212 60 chr6 116600647 116600647 G A exonic TSPYL1 nonsynonymous SNV TSPYL1:NM_003309:exon1:c.C347T:p.A116V 0.16 0.950458 C 0.98 D 0.076 B 0.820791 NA 3.8E-5 N 1.44 205 79 0.278 420 0 0.000 4.0890193802358201e-35 0.519 --- 251,176,73,0.293 363,363,0,0.000 31.674 60 chr7 16744174 16744174 G A exonic BZW2 nonsynonymous SNV BZW2:NM_001159767:exon11:c.G1111A:p.D371N,BZW2:NM_014038:exon11:c.G1111A:p.D371N Score=519;Name=lod=171 0.06 0.99969 C 0.93 T 0.27 P 1.0 D 0.968751 D 5.39 84 40 0.323 145 0 0.000 6.21281448089949365e-16 0.675 --- 106,73,33,0.311 116,116,0,0.000 11.933 13.599 chr7 150648808 150648808 G A exonic KCNH2 nonsynonymous SNV KCNH2:NM_001204798:exon3:c.C653T:p.A218V,KCNH2:NM_172057:exon3:c.C653T:p.A218V,KCNH2:NM_000238:exon7:c.C1673T:p.A558V,KCNH2:NM_172056:exon7:c.C1673T:p.A558V Score=631;Name=lod=488 0.11 0.998386 C 0.81 T 0.0060 B 1.0 D 0.991692 D 3.62 229 71 0.237 218 0 0.000 3.95512057843448905e-19 0.465 --- 257,195,61,0.238 185,184,0,0.000 15.752 14.116 chr8 77617703 77617703 C T exonic ZFHX4 synonymous SNV ZFHX4:NM_024721:exon2:c.C1380T:p.C460C Score=497;Name=lod=139 213 27 0.112 256 0 0.000 1.38274042684107115e-09 0.407 --- 207,184,22,0.107 211,211,0,0.000 6.998 12.431 chr8 107782312 107782312 C A exonic ABRA nonsynonymous SNV ABRA:NM_139166:exon1:c.G107T:p.W36L Score=495;Name=lod=137 0 0.998951 C 1.0 D 0.999 D 1.0 D 0.999956 D 5.31 240 28 0.104 261 0 0.000 3.76581684124963685e-09 0.500 --- 237,212,25,0.105 219,219,0,0.000 7.333 8.379 chr8 133090152 133090152 G A exonic HHLA1 nonsynonymous SNV HHLA1:NM_001145095:exon11:c.C992T:p.S331F 0.01 105 22 0.173 141 0 0.000 2.57494195539342959e-08 0.364 --- 107,91,16,0.150 111,111,0,0.000 5.213 60 chr8 146157540 146157540 A C exonic ZNF16 nonsynonymous SNV ZNF16:NM_006958:exon3:c.T633G:p.C211W,ZNF16:NM_001029976:exon4:c.T633G:p.C211W 0 0.857449 N 0.99 D 0.998 D 0.960273 NA 0.822692 D 0.92 255 33 0.115 230 0 0.000 2.30600302881581714e-09 0.455 --- 252,223,29,0.115 195,194,0,0.000 7.403 10.612 chr9 5054648 5054648 C T exonic JAK2 nonsynonymous SNV JAK2:NM_004972:exon7:c.C700T:p.R234C Score=766;Name=lod=1737 0 0.998981 C 0.99 D 0.011 B 0.999902 D 0.914383 D 5.34 100 27 0.213 126 0 0.000 3.17428601274502897e-09 0.444 --- 104,78,25,0.243 101,101,0,0.000 7.937 60 chr9 7013880 7013880 A G exonic KDM4C synonymous SNV KDM4C:NM_001146694:exon14:c.A2061G:p.P687P,KDM4C:NM_001146695:exon14:c.A2061G:p.P687P,KDM4C:NM_001146696:exon14:c.A2127G:p.P709P,KDM4C:NM_015061:exon14:c.A2061G:p.P687P Score=647;Name=lod=569 144 30 0.172 154 0 0.000 2.66919169575562895e-09 0.500 --- 140,118,22,0.157 108,108,0,0.000 5.774 9.592 chr9 73477973 73477973 C T exonic TRPM3 nonsynonymous SNV TRPM3:NM_001007471:exon3:c.G313A:p.V105M Score=610;Name=lod=403 0.000154 rs202229205 0.33 0.984935 C 0.81 T 0.0010 B 0.998313 N 0.039266 N 4.29 71 37 0.343 154 0 0.000 7.48897681155340634e-17 0.378 --- 87,56,31,0.356 124,124,0,0.000 13.574 60 chr9 139915478 139915478 C T exonic ABCA2 synonymous SNV ABCA2:NM_001606:exon9:c.G933A:p.S311S,ABCA2:NM_212533:exon9:c.G1023A:p.S341S 180 74 0.291 246 0 0.000 3.87040365527697737e-25 0.365 --- 207,144,63,0.304 211,211,0,0.000 21.676 60 chr10 7621921 7621921 C T exonic ITIH5 synonymous SNV ITIH5:NM_032817:exon5:c.G573A:p.T191T,ITIH5:NM_001001851:exon9:c.G1215A:p.T405T,ITIH5:NM_030569:exon9:c.G1215A:p.T405T Score=507;Name=lod=154 0.000077 rs112675855 122 42 0.256 173 0 0.000 3.31121394680670118e-15 0.429 --- 146,108,37,0.255 145,145,0,0.000 11.982 60 chr10 26446416 26446416 C T exonic MYO3A nonsynonymous SNV MYO3A:NM_017433:exon26:c.C2971T:p.R991W Score=523;Name=lod=178 0 0.974416 C 1.0 D 1.0 D 1.0 D 0.999998 D 4.0 85 75 0.469 160 0 0.000 5.45142150151365527e-28 0.320 --- 132,69,62,0.473 136,135,0,0.000 23.291 60 chr10 75184882 75184882 C A exonic MSS51 nonsynonymous SNV MSS51:NM_001024593:exon6:c.G1137T:p.K379N Score=546;Name=lod=220 0.64 0.985176 C 0.22 T 0.0 B 0.661982 N 0.003243 N 3.84 58 7 0.108 79 0 0.000 0.00316906215913085648 0.429 --- 56,50,6,0.107 64,64,0,0.000 2.051 5.957 chr10 106401349 106401349 G A exonic SORCS3 synonymous SNV SORCS3:NM_014978:exon1:c.G264A:p.E88E Score=235;Name=lod=12 117 59 0.335 191 0 0.000 3.34333379184892774e-22 0.661 --- 152,103,49,0.322 167,167,0,0.000 17.875 15.955 chr10 117040903 117040903 G A exonic ATRNL1 synonymous SNV ATRNL1:NM_207303:exon14:c.G2139A:p.E713E Score=675;Name=lod=736 68 28 0.292 133 0 0.000 1.87906856484857239e-12 0.536 --- 79,56,23,0.291 102,102,0,0.000 9.193 60 chr11 2426171 2426171 G A exonic TRPM5 nonsynonymous SNV TRPM5:NM_014555:exon24:c.C3494T:p.T1165I 0 0.93317 N 1.0 D 0.686 P 0.885358 NA 0.270907 N 0.894 55 20 0.267 90 0 0.000 2.89936213323251686e-08 0.700 --- 66,48,18,0.273 71,71,0,0.000 6.312 9.894 chr11 4510896 4510896 C T exonic OR52K1 nonsynonymous SNV OR52K1:NM_001005171:exon1:c.C766T:p.P256S Score=259;Name=lod=15 0 0.998294 C 0.99 D 0.513 P 0.999872 D 0.200788 N 4.34 117 25 0.176 178 0 0.000 4.17871849586231256e-10 0.480 --- 127,105,22,0.173 151,151,0,0.000 7.953 14.778 chr11 5809208 5809208 G T exonic OR52N1 nonsynonymous SNV OR52N1:NM_001001913:exon1:c.C839A:p.A280D Score=410;Name=lod=62 0 0.999444 C 1.0 D 0.991 D 0.999621 D 0.597123 D 3.87 107 20 0.157 150 0 0.000 7.01162314146643458e-08 0.500 --- 111,94,17,0.153 134,134,0,0.000 6.159 11.287 chr11 6292496 6292496 G A exonic CCKBR nonsynonymous SNV CCKBR:NM_176875:exon5:c.G1067A:p.R356H Score=522;Name=lod=177 0.01 0.999402 C 0.95 T 0.94 D 0.999974 D 0.994977 D 4.89 133 49 0.269 245 0 0.000 1.00346361333144233e-20 0.531 --- 161,113,48,0.298 217,217,0,0.000 19.834 60 chr11 6415760 6415760 G T exonic SMPD1 nonsynonymous SNV SMPD1:NM_000543:exon6:c.G1819T:p.A607S,SMPD1:NM_001007593:exon6:c.G1816T:p.A606S Score=448;Name=lod=88 0.47 0.999463 C 0.58 T 0.0 B 0.986734 N 0.022949 N 4.98 81 56 0.409 179 1 0.006 5.25399618295223304e-23 0.429 1.000 119,71,48,0.403 152,150,1,0.007 18.431 60 chr11 55681965 55681965 A G exonic OR5W2 synonymous SNV OR5W2:NM_001001960:exon1:c.T94C:p.L32L ID=COSM1354522;OCCURENCE=1(large_intestine) 59 15 0.203 95 0 0.000 1.7263143715335013e-06 0.400 --- 66,53,13,0.197 75,75,0,0.000 4.587 11.579 chr11 60215221 60215221 C G exonic MS4A5 nonsynonymous SNV MS4A5:NM_023945:exon5:c.C592G:p.Q198E 0.86 0.247725 N 0.0 T 0.0010 B 2.0E-6 N 8.97E-4 N -0.272 32 14 0.304 68 0 0.000 7.67290214053237025e-07 0.429 --- 39,27,11,0.289 53,53,0,0.000 4.595 15.256 chr11 60704759 60704759 C T exonic SLC15A3 nonsynonymous SNV SLC15A3:NM_016582:exon8:c.G1678A:p.A560T Score=313;Name=lod=25 0.29 0.91311 N 0.55 T 0.172 P 0.998549 N 0.603181 D 2.29 163 35 0.177 245 0 0.000 9.33165661722946564e-14 0.400 --- 159,131,28,0.176 189,189,0,0.000 10.138 14.593 chr11 72407634 72407634 T G exonic ARAP1 nonsynonymous SNV ARAP1:NM_001135190:exon20:c.A2314C:p.N772H,ARAP1:NM_015242:exon21:c.A2497C:p.N833H,ARAP1:NM_001040118:exon23:c.A3232C:p.N1078H Score=412;Name=lod=63 0 0.994112 C 0.92 T 0.812 P 1.0 D 0.729692 D 4.16 88 13 0.129 123 0 0.000 2.02730528784861188e-05 0.000 --- 103,84,19,0.184 102,101,0,0.000 5.811 7.152 chr11 75905763 75905763 C T exonic WNT11 nonsynonymous SNV WNT11:NM_004626:exon3:c.G445A:p.G149R Score=743;Name=lod=1390 0.18 0.99773 C 0.68 T 0.0010 B 0.999993 D 0.996372 D 4.6 158 104 0.397 340 0 0.000 1.50939776713419697e-44 0.500 --- 216,134,81,0.377 275,275,0,0.000 33.496 14.398 chr11 108535904 108535904 G C exonic DDX10 synonymous SNV DDX10:NM_004398:exon1:c.G24C:p.P8P 123 70 0.363 253 0 0.000 6.05585711660932668e-30 0.557 --- 162,108,54,0.333 201,201,0,0.000 21.464 60 chr12 351879 351879 C T exonic SLC6A13 nonsynonymous SNV SLC6A13:NM_016615:exon4:c.G379A:p.V127I Score=607;Name=lod=389 ID=COSM1360727;OCCURENCE=1(large_intestine) 0.64 0.006397 N 0.0 T 0.0 B 0.821986 N 6.89E-4 N -5.48 78 24 0.235 141 0 0.000 1.52881181206801876e-10 0.333 --- 89,64,25,0.281 110,110,0,0.000 9.674 12.541 chr12 7077088 7077088 C T exonic PHB2 unknown UNKNOWN Score=614;Name=lod=416 0 95 22 0.188 118 0 0.000 7.27348408674846775e-08 0.591 --- 100,80,20,0.200 103,102,0,0.000 6.569 13.159 chr12 25398284 25398284 C A exonic KRAS nonsynonymous SNV KRAS:NM_004985:exon2:c.G35T:p.G12V,KRAS:NM_033360:exon2:c.G35T:p.G12V Score=706;Name=lod=982 ID=COSM1140133,COSM520;OCCURENCE=2(pleura),235(ovary),7(breast),3(NS),26(stomach),31(haematopoietic_and_lymphoid_tissue),2(kidney),4(soft_tissue),10(urinary_tract),1162(pancreas),4(peritoneum),5(liver),2(oesophagus),1(autonomic_ganglia),5(gastrointestinal_tract_(site_indeterminate)),19(skin),38(prostate),726(lung),4(cervix),12(thyroid),3(upper_aerodigestive_tract),6(testis),1(eye),2(thymus),3613(large_intestine),1(central_nervous_system),19(small_intestine),101(biliary_tract),90(endometrium) 0.033 rs121913529 0.01 0.998873 C 1.0 D 0.91 D 1.0 D 0.999996 D 5.24 62 31 0.333 107 0 0.000 1.98973856612314005e-12 0.355 --- 77,49,28,0.364 83,83,0,0.000 10.247 13.171 chr12 91445213 91445213 G A exonic KERA synonymous SNV KERA:NM_007035:exon3:c.C969T:p.R323R Score=578;Name=lod=299 55 26 0.321 125 0 0.000 1.63802339921126179e-12 0.462 --- 66,44,21,0.323 92,92,0,0.000 9.014 60 chr12 119563241 119563241 C T exonic SRRM4 nonsynonymous SNV SRRM4:NM_194286:exon7:c.C571T:p.R191W 0.000081 ID=COSM1359215,COSM1359214,COSM1359216;OCCURENCE=1(large_intestine) 0 59 28 0.322 168 0 0.000 2.9303966752532678e-15 0.464 --- 73,50,23,0.315 125,125,0,0.000 11.079 60 chr12 122990108 122990108 A C exonic RSRC2 nonsynonymous SNV RSRC2:NM_023012:exon10:c.T1271G:p.F424C Score=701;Name=lod=941 0 0.99906 C 1.0 D 0.999 D 1.0 D 0.99878 D 5.57 70 10 0.125 98 0 0.000 0.000242060076912454827 1.000 --- 86,63,23,0.267 84,84,0,0.000 7.350 8.374 chr12 122990109 122990109 A C exonic RSRC2 nonsynonymous SNV RSRC2:NM_023012:exon10:c.T1270G:p.F424V Score=701;Name=lod=941 0 0.99906 C 1.0 D 0.999 D 1.0 D 0.998095 D 5.57 71 16 0.184 97 0 0.000 2.80939810940569179e-06 1.000 --- 86,62,24,0.279 85,85,0,0.000 7.734 7.844 chr12 130884319 130884319 A C exonic RIMBP2 nonsynonymous SNV RIMBP2:NM_015347:exon18:c.T3037G:p.F1013V Score=568;Name=lod=272 ID=COSM430733;OCCURENCE=1(breast),1(oesophagus) 0 0.997607 C 1.0 D 0.999 D 1.0 D 0.999999 D 4.67 100 20 0.167 139 0 0.000 8.24707647521544735e-08 0.450 --- 93,76,17,0.183 101,101,0,0.000 5.791 7.024 chr13 43900569 43900569 G A exonic ENOX1 stopgain ENOX1:NM_001127615:exon10:c.C1129T:p.R377X,ENOX1:NM_001242863:exon10:c.C1129T:p.R377X,ENOX1:NM_017993:exon10:c.C1129T:p.R377X Score=769;Name=lod=1779 0.9 0.99976 C 0.903849 NA 0.73552 NA 1.0 D 1.0 A 4.49 97 12 0.110 95 0 0.000 0.00047192233171635013 0.583 --- 87,77,10,0.115 69,69,0,0.000 2.606 6.898 chr13 114322031 114322031 C A exonic GRK1 synonymous SNV GRK1:NM_002929:exon1:c.C330A:p.I110I Score=432;Name=lod=76 256 75 0.227 305 0 0.000 6.21010172981762813e-24 0.427 --- 303,231,72,0.238 255,255,0,0.000 20.942 60 chr14 102506742 102506742 G A exonic DYNC1H1 nonsynonymous SNV DYNC1H1:NM_001376:exon63:c.G11860A:p.D3954N Score=407;Name=lod=60 0.73 0.999719 C 0.48 T 0.0 B 1.0 D 0.998732 D 5.47 112 49 0.304 156 1 0.006 1.67403974484233383e-15 0.327 1.000 143,95,48,0.336 143,142,1,0.007 14.741 60 chr15 25959239 25959239 C T exonic ATP10A synonymous SNV ATP10A:NM_024490:exon10:c.G1926A:p.P642P Score=309;Name=lod=24 122 82 0.402 319 0 0.000 1.33102660109680534e-39 0.244 --- 171,98,73,0.427 259,259,0,0.000 34.306 60 chr15 28273022 28273022 C G exonic OCA2 nonsynonymous SNV OCA2:NM_000275:exon4:c.G510C:p.K170N 0.02 0.158478 N 0.47 T 0.0010 B 0.920183 N 0.225703 N -2.48 81 47 0.367 170 0 0.000 1.5819649912819729e-20 0.532 --- 103,65,38,0.369 137,137,0,0.000 16.025 8.066 chr15 42977254 42977254 A C exonic STARD9 nonsynonymous SNV STARD9:NM_020759:exon23:c.A3478C:p.K1160Q 0.36 120 32 0.211 176 0 0.000 2.90529420653194876e-12 0.344 --- 137,106,31,0.226 152,152,0,0.000 10.922 15.955 chr15 54590024 54590024 A G exonic UNC13C nonsynonymous SNV UNC13C:NM_001080534:exon10:c.A4004G:p.K1335R Score=539;Name=lod=206 ID=COSM1231759,COSM1231758;OCCURENCE=1(large_intestine) 0.05 33 14 0.298 53 0 0.000 7.73178124790989358e-06 0.643 --- 40,30,10,0.250 47,47,0,0.000 3.674 7.591 chr16 57805245 57805245 G C exonic KIFC3 nonsynonymous SNV KIFC3:NM_001130099:exon5:c.C213G:p.D71E,KIFC3:NM_001130100:exon6:c.C630G:p.D210E,KIFC3:NM_005550:exon6:c.C630G:p.D210E Score=592;Name=lod=338 1 0.999422 C 0.0 T 0.0010 B 0.999749 D 0.005782 N 4.92 191 29 0.132 233 0 0.000 2.90110395600701745e-10 0.483 --- 191,166,25,0.131 199,199,0,0.000 8.123 11.225 chr16 69988383 69988383 C T exonic CLEC18A synonymous SNV CLEC18A:NM_001136214:exon4:c.C363T:p.V121V,CLEC18A:NM_001271197:exon4:c.C363T:p.V121V,CLEC18A:NM_182619:exon4:c.C363T:p.V121V Score=0.990978;Name=chr16:70200495 222 61 0.216 392 0 0.000 1.42119398985277069e-25 0.557 --- 259,198,61,0.236 338,338,0,0.000 24.085 13.861 chr17 7577094 7577094 G A exonic TP53 nonsynonymous SNV TP53:NM_001126115:exon4:c.C448T:p.R150W,TP53:NM_001126116:exon4:c.C448T:p.R150W,TP53:NM_001126117:exon4:c.C448T:p.R150W,TP53:NM_001276697:exon4:c.C367T:p.R123W,TP53:NM_001276698:exon4:c.C367T:p.R123W,TP53:NM_001276699:exon4:c.C367T:p.R123W,TP53:NM_001126118:exon7:c.C727T:p.R243W,TP53:NM_000546:exon8:c.C844T:p.R282W,TP53:NM_001126112:exon8:c.C844T:p.R282W,TP53:NM_001126113:exon8:c.C844T:p.R282W,TP53:NM_001126114:exon8:c.C844T:p.R282W,TP53:NM_001276695:exon8:c.C727T:p.R243W,TP53:NM_001276696:exon8:c.C727T:p.R243W,TP53:NM_001276760:exon8:c.C727T:p.R243W,TP53:NM_001276761:exon8:c.C727T:p.R243W Score=481;Name=lod=120 0.000154 ID=COSM99925,COSM10704;OCCURENCE=1(salivary_gland),4(vulva),16(ovary),1(bone),21(breast),1(NS),7(haematopoietic_and_lymphoid_tissue),32(stomach),12(urinary_tract),10(pancreas),2(peritoneum),4(liver),52(oesophagus),1(autonomic_ganglia),9(skin),2(prostate),19(lung),2(thyroid),29(upper_aerodigestive_tract),131(large_intestine),28(central_nervous_system),4(biliary_tract),3(endometrium) rs28934574 0 0.873535 N 1.0 D 1.0 D 1.0 D 1.0 D 0.419 56 47 0.456 157 1 0.006 1.07326283305603766e-21 0.447 1.000 79,45,34,0.430 124,123,1,0.008 14.895 15.955 chr17 11461088 11461088 G A exonic SHISA6 nonsynonymous SNV SHISA6:NM_001173461:exon4:c.G970A:p.E324K,SHISA6:NM_001173462:exon5:c.G1066A:p.E356K,SHISA6:NM_207386:exon6:c.G1123A:p.E375K Score=519;Name=lod=171 0.02 56 55 0.495 223 0 0.000 4.30300070627916711e-32 0.727 --- 98,45,53,0.541 199,199,0,0.000 31.014 60 chr17 72246141 72246141 G T exonic TTYH2 nonsynonymous SNV TTYH2:NM_052869:exon3:c.G34T:p.A12S,TTYH2:NM_032646:exon9:c.G997T:p.A333S Score=422;Name=lod=69 0.11 0.979537 C 0.87 T 0.0080 B 1.0 D 0.298126 N 3.11 86 18 0.173 151 0 0.000 3.78026238645117633e-08 0.556 --- 83,70,13,0.157 122,122,0,0.000 5.366 13.043 chr18 7888130 7888130 G T exonic PTPRM nonsynonymous SNV PTPRM:NM_001105244:exon3:c.G223T:p.G75W,PTPRM:NM_002845:exon3:c.G223T:p.G75W Score=371;Name=lod=43 0.999648 C 0.99 D 0.356 P 1.0 D 0.999095 D 5.3 82 37 0.311 158 0 0.000 6.17688757105295125e-16 0.622 --- 103,69,34,0.330 129,129,0,0.000 13.559 12.011 chr18 72109231 72109231 G A exonic FAM69C stopgain FAM69C:NM_001044369:exon3:c.C997T:p.R333X 0.000082 0.77 0.953014 C 0.90131 NA 0.714776 NA 0.925909 N 1.0 D 0.691 97 44 0.312 156 0 0.000 8.91607184172573751e-17 0.523 --- 120,84,36,0.300 125,125,0,0.000 12.530 60 chr18 76753566 76753566 C T exonic SALL3 synonymous SNV SALL3:NM_171999:exon2:c.C1575T:p.S525S 192 40 0.172 278 0 0.000 2.80485724629370779e-15 0.475 --- 207,169,38,0.184 248,248,0,0.000 13.880 14.778 chr19 4182513 4182513 C T exonic SIRT6 synonymous SNV SIRT6:NM_001193285:exon1:c.G24A:p.G8G,SIRT6:NM_016539:exon1:c.G24A:p.G8G Score=583;Name=lod=311 111 48 0.302 159 0 0.000 5.3716967625467763e-17 0.500 --- 134,94,40,0.299 134,134,0,0.000 13.230 60 chr19 9763674 9763674 G C exonic ZNF562 nonsynonymous SNV ZNF562:NM_017656:exon4:c.C1016G:p.T339S,ZNF562:NM_001130031:exon6:c.C1232G:p.T411S,ZNF562:NM_001130032:exon6:c.C1232G:p.T411S Score=0.901768;Name=chr19:9799519 0.78 0.754546 N 0.58 T 0.968 D 0.828396 NA 0.001002 N 0.0244 97 30 0.236 153 0 0.000 6.03673466998979357e-12 0.667 --- 114,86,26,0.232 133,133,0,0.000 9.610 60 chr19 11311677 11311677 G A exonic DOCK6 nonsynonymous SNV DOCK6:NM_020812:exon45:c.C5740T:p.R1914W Score=486;Name=lod=126 0.19 140 68 0.327 195 0 0.000 7.64492306850156061e-23 0.382 --- 178,118,60,0.337 154,154,0,0.000 18.622 60 chr19 34003637 34003637 C T exonic PEPD synonymous SNV PEPD:NM_000285:exon2:c.G63A:p.A21A,PEPD:NM_001166056:exon2:c.G63A:p.A21A,PEPD:NM_001166057:exon2:c.G63A:p.A21A 81 28 0.257 163 0 0.000 7.13442818658110131e-13 0.250 --- 88,63,25,0.284 124,124,0,0.000 10.548 60 chr19 46307926 46307926 C T exonic RSPH6A nonsynonymous SNV RSPH6A:NM_030785:exon3:c.G1237A:p.V413M 0.000461 0.0005 rs138579958 0.17 0.812513 N 0.83 T 0.0030 B 0.964651 N 0.012914 N 0.807 135 71 0.345 210 0 0.000 1.31040645485131837e-25 0.437 --- 178,114,64,0.360 165,165,0,0.000 21.041 60 chr19 49657264 49657264 T A exonic HRC stopgain HRC:NM_002152:exon1:c.A1231T:p.K411X 0.14 0.00944 N 0.829001 NA 0.526087 NA 0.735788 NA 1.0 A -6.51 102 52 0.338 157 0 0.000 7.02691851883251922e-19 0.404 --- 131,87,44,0.336 132,132,0,0.000 15.218 60 chr19 56001755 56001755 C T exonic SSC5D nonsynonymous SNV SSC5D:NM_001144950:exon5:c.C566T:p.T189M,SSC5D:NM_001195267:exon5:c.C566T:p.T189M ID=COSM1396594;OCCURENCE=1(large_intestine) 0.01 39 9 0.188 53 0 0.000 0.00080308902790681888 0.444 --- 37,29,8,0.216 39,39,0,0.000 2.689 6.171 chr19 56274429 56274429 G A exonic RFPL4A nonsynonymous SNV RFPL4A:NM_001145014:exon3:c.G752A:p.R251H Score=0.976927;Name=chr19:56277496 0.09 188 77 0.291 366 0 0.000 5.63120268561465736e-33 0.429 --- 211,151,60,0.284 287,287,0,0.000 24.812 60 chr20 44279177 44279177 C A exonic WFDC11 synonymous SNV WFDC11:NM_147197:exon3:c.G63T:p.L21L 47 55 0.539 87 0 0.000 1.49743242715891623e-19 0.509 --- 85,40,44,0.524 67,67,0,0.000 14.169 60 chr20 44512472 44512472 C T exonic ZSWIM1 nonsynonymous SNV ZSWIM1:NM_080603:exon2:c.C1241T:p.P414L 0.14 0.934992 N 0.77 T 0.206 P 0.751582 U 0.006197 N 2.19 233 37 0.137 229 0 0.000 4.29070656664235874e-11 0.432 --- 241,205,36,0.149 195,195,0,0.000 9.686 14.097 chr20 50769714 50769714 C T exonic ZFP64 synonymous SNV ZFP64:NM_022088:exon5:c.G855A:p.S285S,ZFP64:NM_018197:exon6:c.G1017A:p.S339S,ZFP64:NM_199426:exon6:c.G1011A:p.S337S 266 92 0.257 333 0 0.000 8.50635810978520906e-30 0.467 --- 320,241,78,0.245 290,290,0,0.000 24.123 60 chr21 30329085 30329085 T G exonic LTN1 synonymous SNV LTN1:NM_015565:exon16:c.A3216C:p.I1072I Score=460;Name=lod=99 62 12 0.162 66 0 0.000 0.000368642481510720475 0.500 --- 60,50,10,0.167 54,53,0,0.000 2.816 4.853 chr22 28702591 28702591 C T exonic TTC28 nonsynonymous SNV TTC28:NM_001145418:exon3:c.G422A:p.R141H Score=722;Name=lod=1141 0.26 77 42 0.353 153 0 0.000 6.06637075674490653e-18 0.452 --- 94,63,31,0.330 121,121,0,0.000 12.579 12.843 chr22 36661827 36661827 T G exonic APOL1 synonymous SNV APOL1:NM_001136541:exon5:c.T891G:p.G297G,APOL1:NM_001136540:exon6:c.T945G:p.G315G,APOL1:NM_003661:exon6:c.T945G:p.G315G,APOL1:NM_145343:exon7:c.T993G:p.G331G Score=0.909256;Name=chr22:36620662 149 20 0.118 246 0 0.000 7.7730616392919447e-09 0.000 --- 194,154,40,0.206 211,211,0,0.000 13.800 10.773 chr22 37325516 37325516 C T exonic CSF2RB nonsynonymous SNV CSF2RB:NM_000395:exon5:c.C464T:p.A155V 0.12 0.97412 C 0.97 D 0.1 B 0.42032 N 0.015353 N 1.02 143 67 0.319 253 0 0.000 1.06102233739644526e-26 0.582 --- 179,118,61,0.341 210,208,0,0.000 23.303 60 chrX 7811708 7811708 C T exonic VCX nonsynonymous SNV VCX:NM_013452:exon3:c.C272T:p.P91L Score=0.940817;Name=chrX:6445602 0 0.036389 N 0.75 T 0.230818 NA 0.587617 NA 0.001512 N -0.313 18 18 0.500 53 0 0.000 2.99339640457810161e-09 0.389 --- 26,14,12,0.462 36,36,0,0.000 5.350 3.254 chrX 8138221 8138221 G A exonic VCX2 nonsynonymous SNV VCX2:NM_016378:exon3:c.C272T:p.P91L Score=0.944861;Name=chrX:6446755 0.000192 rs141793192 0 0.025761 N 1.0 D 0.368702 NA 0.582501 NA 0.004902 N -0.297 55 42 0.433 94 0 0.000 1.83849566138177774e-15 0.381 --- 82,50,32,0.390 84,84,0,0.000 11.461 3.437 chrX 37026676 37026676 C T exonic FAM47C nonsynonymous SNV FAM47C:NM_001013736:exon1:c.C193T:p.P65S Score=0.896562;Name=chrX:34955671 0.5 0.100918 N 0.35 T 0.999 D 0.660506 NA 0.004591 N -0.691 55 137 0.714 205 0 0.000 1.06234721263158638e-61 0.547 --- 164,49,115,0.701 173,172,0,0.000 50.154 60 chrX 77266953 77266953 C T exonic ATP7A nonsynonymous SNV ATP7A:NM_000052:exon9:c.C1954T:p.R652W 0.000189 0.03 0.845841 N 0.97 D 0.914 D 0.946821 N 0.643426 D 1.18 19 31 0.620 62 0 0.000 7.34064710588864356e-15 0.774 --- 43,17,26,0.605 54,54,0,0.000 11.823 60 chrX 77268393 77268393 C T exonic ATP7A synonymous SNV ATP7A:NM_000052:exon10:c.C2190T:p.Y730Y Score=544;Name=lod=216 25 13 0.342 39 0 0.000 2.9469695385684149e-05 0.692 --- 35,24,11,0.314 36,36,0,0.000 3.788 13.593 chrX 120009392 120009392 T G exonic CT47B1 nonsynonymous SNV CT47B1:NM_001145718:exon1:c.A133C:p.M45L Score=0.977351;Name=chrX:120086644 0.3 128 172 0.573 516 0 0.000 3.39025663053844674e-94 0.029 --- 285,116,169,0.593 469,462,2,0.004 60.000 5.481