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 33583605 33583605 G A exonic ADC nonsynonymous SNV ADC:NM_052998:exon11:c.G1132A:p.V378I Score=581;Name=lod=305 ID=COSM185898;OCCURENCE=1(large_intestine) 0.01 0.987295 C 1.0 D 0.103 B 0.987924 N 0.085655 N 1.98 145 101 0.411 229 0 0.000 4.63348544476162658e-35 0.554 --- 200,120,80,0.400 183,183,0,0.000 26.717 60 chr1 53535651 53535651 G C exonic PODN nonsynonymous SNV PODN:NM_001199082:exon2:c.G268C:p.E90Q,PODN:NM_153703:exon2:c.G268C:p.E90Q,PODN:NM_001199081:exon3:c.G211C:p.E71Q,PODN:NM_001199080:exon4:c.G211C:p.E71Q Score=329;Name=lod=29 0 0.998507 C 1.0 D 0.25 P 0.954168 N 0.017989 N 3.68 185 122 0.397 318 0 0.000 4.47879073213378357e-45 0.451 --- 263,157,105,0.401 268,268,0,0.000 37.899 60 chr1 104094373 104094373 G T exonic RNPC3 nonsynonymous SNV RNPC3:NM_017619:exon14:c.G1525T:p.D509Y Score=574;Name=lod=288 0 34 11 0.244 59 0 0.000 4.55092261879295376e-05 0.727 --- 38,28,10,0.263 47,47,0,0.000 3.821 5.354 chr1 152732100 152732100 G A exonic KPRP synonymous SNV KPRP:NM_001025231:exon2:c.G36A:p.P12P ID=COSM896242;OCCURENCE=1(prostate) 105 51 0.327 186 0 0.000 2.0384469774213468e-20 0.608 --- 137,91,46,0.336 156,156,0,0.000 17.286 60 chr1 159277621 159277621 T A exonic FCER1A nonsynonymous SNV FCER1A:NM_002001:exon6:c.T673A:p.S225T 0.04 0.911495 N 0.97 D 0.182 P 0.0 N 0.397282 N 1.61 50 33 0.398 98 0 0.000 9.12001804144070853e-14 0.606 --- 65,40,25,0.385 75,75,0,0.000 9.658 60 chr1 186083133 186083133 C G exonic HMCN1 synonymous SNV HMCN1:NM_031935:exon73:c.C11154G:p.G3718G Score=494;Name=lod=136 0.000077 84 32 0.276 138 0 0.000 8.72998893550091452e-13 0.562 --- 90,65,25,0.278 113,111,0,0.000 9.648 60 chr1 200619614 200619614 C T exonic DDX59 nonsynonymous SNV DDX59:NM_001031725:exon5:c.G1253A:p.R418H Score=449;Name=lod=89 0.002384 0.0005 rs78882239 0.03 0.999045 C 0.92 T 0.284 P 1.0 D 0.999764 D 5.41 104 91 0.467 186 0 0.000 6.5343713763693909e-33 0.527 --- 159,91,68,0.428 150,150,0,0.000 23.278 60 chr1 201291132 201291132 G T exonic PKP1 synonymous SNV PKP1:NM_001005337:exon8:c.G1374T:p.L458L,PKP1:NM_000299:exon9:c.G1437T:p.L479L Score=612;Name=lod=409 0.000077 78 46 0.371 173 0 0.000 9.42585991065359527e-21 0.543 --- 110,70,40,0.364 136,136,0,0.000 16.058 60 chr1 207793329 207793329 G T exonic CR1 nonsynonymous SNV CR1:NM_000573:exon35:c.G5821T:p.G1941W,CR1:NM_000651:exon43:c.G7171T:p.G2391W 0 92 49 0.348 135 0 0.000 3.79359252819919657e-17 0.490 --- 104,65,39,0.375 109,109,0,0.000 14.099 60 chr2 25344563 25344563 G A exonic EFR3B nonsynonymous SNV EFR3B:NM_014971:exon5:c.G385A:p.E129K Score=445;Name=lod=86 0 88 54 0.380 99 0 0.000 2.30076056359404935e-15 0.593 --- 115,71,44,0.383 83,83,0,0.000 11.990 60 chr2 26690265 26690265 C T exonic OTOF nonsynonymous SNV OTOF:NM_194322:exon16:c.G2125A:p.E709K,OTOF:NM_004802:exon17:c.G1894A:p.E632K,OTOF:NM_194323:exon17:c.G1894A:p.E632K,OTOF:NM_194248:exon34:c.G4195A:p.E1399K Score=520;Name=lod=173 ID=COSM1407265,COSM1407266,COSM1407264;OCCURENCE=1(large_intestine) 0.21 0.998095 C 0.43 T 0.0 B 0.999098 N 0.936075 D 4.76 93 61 0.396 188 0 0.000 2.11617820317789789e-25 0.393 --- 137,81,56,0.409 166,165,0,0.000 22.579 60 chr2 39187206 39187206 C T exonic ARHGEF33 nonsynonymous SNV ARHGEF33:NM_001145451:exon14:c.C1760T:p.P587L Score=457;Name=lod=96 0.02 247 83 0.252 311 0 0.000 5.26049888515254811e-27 0.506 --- 269,207,62,0.230 259,259,0,0.000 19.827 60 chr2 110917825 110917825 G A exonic NPHP1 nonsynonymous SNV NPHP1:NM_001128179:exon9:c.C773T:p.S258L,NPHP1:NM_000272:exon11:c.C1130T:p.S377L,NPHP1:NM_001128178:exon11:c.C962T:p.S321L,NPHP1:NM_207181:exon11:c.C1127T:p.S376L 0.07 0.999718 C 0.97 D 0.11 B 0.982998 N 0.060349 N 5.14 47 19 0.288 76 0 0.000 9.48491302208166101e-08 0.316 --- 57,41,16,0.281 65,65,0,0.000 5.852 14.699 chr2 127825796 127825796 C G exonic BIN1 nonsynonymous SNV BIN1:NM_139343:exon7:c.G555C:p.W185C,BIN1:NM_139344:exon7:c.G555C:p.W185C,BIN1:NM_139345:exon7:c.G555C:p.W185C Score=668;Name=lod=694 0 0.998258 C 1.0 D 1.0 D 0.999999 D 0.988402 D 4.31 94 62 0.397 128 0 0.000 7.54770842725553536e-20 0.403 --- 124,75,49,0.395 106,106,0,0.000 15.449 60 chr2 170058314 170058314 C T exonic LRP2 nonsynonymous SNV LRP2:NM_004525:exon44:c.G8276A:p.R2759H Score=574;Name=lod=287 0.04 0.998995 C 0.94 T 1.0 D 1.0 D 0.9978 D 5.35 116 64 0.356 196 0 0.000 2.70599665620272502e-24 0.422 --- 148,96,51,0.347 152,151,0,0.000 17.971 60 chr2 171573170 171573170 G A exonic SP5 synonymous SNV SP5:NM_001003845:exon2:c.G453A:p.A151A 178 114 0.390 345 0 0.000 8.34051082169329989e-46 0.421 --- 245,147,98,0.400 298,298,0,0.000 39.658 60 chr2 227919418 227919418 C T exonic COL4A4 nonsynonymous SNV COL4A4:NM_000092:exon31:c.G2752A:p.G918R Score=378;Name=lod=46 ID=COSM1017292;OCCURENCE=1(large_intestine) 0 0.998636 C 0.903319 NA 0.73734 NA 1.0 NA 0.998297 D 5.07 89 62 0.411 121 0 0.000 1.37854225797863212e-19 0.371 --- 121,67,53,0.442 103,103,0,0.000 17.219 60 chr2 233348755 233348755 C T exonic ECEL1 nonsynonymous SNV ECEL1:NM_004826:exon7:c.G1363A:p.A455T Score=524;Name=lod=180 0.000154 ID=COSM1406223;OCCURENCE=2(large_intestine) 0.03 0.9985 C 0.98 D 0.858 D 1.0 D 0.996408 D 4.98 143 88 0.381 246 0 0.000 4.76668490344161206e-33 0.659 --- 193,120,73,0.378 209,209,0,0.000 27.071 60 chr3 42727766 42727766 C A exonic KLHL40 nonsynonymous SNV KLHL40:NM_152393:exon1:c.C656A:p.T219N Score=440;Name=lod=82 0.06 0.99805 C 0.93 T 0.06 B 0.993736 N 0.058964 N 4.21 130 110 0.458 232 0 0.000 4.65855990479972631e-40 0.491 --- 205,112,92,0.451 203,203,0,0.000 33.220 60 chr3 98109524 98109524 T A exonic OR5K3 nonsynonymous SNV OR5K3:NM_001005516:exon1:c.T15A:p.N5K 0.01 0.218761 N 1.0 D 0.998 D 0.999731 D 0.66069 NA -0.44 54 33 0.379 88 0 0.000 2.1886689344018596e-12 0.758 --- 70,45,25,0.357 74,74,0,0.000 8.998 13.106 chr3 141497393 141497393 C T exonic GRK7 synonymous SNV GRK7:NM_139209:exon1:c.C267T:p.D89D Score=403;Name=lod=58 0.000538 0.0009 rs56199819 116 87 0.429 192 0 0.000 8.6971573024177914e-31 0.494 --- 184,104,79,0.432 172,172,0,0.000 27.221 60 chr3 142681163 142681163 G A exonic PAQR9 nonsynonymous SNV PAQR9:NM_198504:exon1:c.C1016T:p.A339V Score=664;Name=lod=669 ID=COSM1039472;OCCURENCE=1(endometrium) 0.18 0.96302 C 0.63 T 0.0 B 0.985653 N 0.121501 N 2.67 138 64 0.317 266 0 0.000 5.38775735582601156e-27 0.594 --- 172,118,54,0.314 213,213,0,0.000 21.262 60 chr3 178936091 178936091 G A exonic PIK3CA nonsynonymous SNV PIK3CA:NM_006218:exon10:c.G1633A:p.E545K Score=549;Name=lod=228 Score=0.979452;Name=chr22:17049389 ID=COSM763,COSM125370;OCCURENCE=25(ovary),301(breast),1(NS),4(penis),1(haematopoietic_and_lymphoid_tissue),18(stomach),2(kidney),2(soft_tissue),103(urinary_tract),2(pancreas),8(oesophagus),1(pituitary),14(skin),18(lung),24(cervix),5(thyroid),14(upper_aerodigestive_tract),288(large_intestine),11(central_nervous_system),1(biliary_tract),38(endometrium) 0.025 rs104886003 0 0.999704 C 0.958467 NA 0.997 D 1.0 D 0.999985 D 5.43 48 28 0.368 62 0 0.000 3.63836244154811733e-09 0.500 --- 57,35,22,0.386 53,53,0,0.000 7.285 60 chr3 193120632 193120632 C G exonic ATP13A4 nonsynonymous SNV ATP13A4:NM_032279:exon30:c.G3400C:p.A1134P Score=477;Name=lod=116 0.2 0.97782 C 0.93 T 0.0 B 0.999999 D 0.955164 D 4.15 61 32 0.344 107 0 0.000 7.29963260944583915e-13 0.438 --- 73,47,26,0.356 77,77,0,0.000 9.341 15.477 chr4 2428298 2428298 G A exonic LOC402160 synonymous SNV LOC402160:NM_001193282:exon2:c.G96A:p.A32A 72 35 0.327 96 0 0.000 1.2445816321472103e-11 0.486 --- 83,56,27,0.325 72,72,0,0.000 8.186 60 chr4 6087222 6087222 G A exonic JAKMIP1 synonymous SNV JAKMIP1:NM_001099433:exon4:c.C759T:p.A253A,JAKMIP1:NM_144720:exon4:c.C759T:p.A253A Score=596;Name=lod=351 0.000077 112 64 0.364 160 0 0.000 1.33723345691018207e-21 0.531 --- 137,88,49,0.358 135,135,0,0.000 16.712 60 chr4 30724145 30724145 C T exonic PCDH7 synonymous SNV PCDH7:NM_001173523:exon1:c.C1101T:p.L367L,PCDH7:NM_002589:exon1:c.C1101T:p.L367L,PCDH7:NM_032456:exon1:c.C1101T:p.L367L,PCDH7:NM_032457:exon1:c.C1101T:p.L367L Score=602;Name=lod=373 135 86 0.389 285 0 0.000 1.1134305854874781e-36 0.465 --- 191,116,75,0.393 235,235,0,0.000 30.459 60 chr4 39303966 39303966 G A exonic RFC1 stopgain RFC1:NM_001204747:exon19:c.C2470T:p.R824X,RFC1:NM_002913:exon19:c.C2467T:p.R823X Score=563;Name=lod=260 0.57 0.973578 C 0.903293 NA 0.714441 NA 0.904814 N 1.0 A 0.951 35 27 0.435 65 0 0.000 9.43446453726480987e-11 0.407 --- 52,29,23,0.442 50,50,0,0.000 7.955 60 chr4 47788854 47788854 T C exonic CORIN synonymous SNV CORIN:NM_006587:exon3:c.A297G:p.T99T 73 40 0.354 99 0 0.000 2.48236567327739045e-13 0.425 --- 88,57,30,0.345 81,81,0,0.000 9.816 60 chr4 77677913 77677913 A T exonic SHROOM3 nonsynonymous SNV SHROOM3:NM_020859:exon8:c.A5021T:p.E1674V Score=630;Name=lod=485 0 0.998337 C 1.0 D 0.996 D 0.999869 D 0.950582 D 5.01 119 75 0.387 195 0 0.000 2.80856083347448493e-27 0.533 --- 176,106,70,0.398 171,171,0,0.000 24.307 60 chr4 147830341 147830341 C T exonic TTC29 synonymous SNV TTC29:NM_031956:exon5:c.G237A:p.K79K Score=428;Name=lod=73 87 38 0.304 137 0 0.000 1.90879876978249245e-14 0.395 --- 100,69,31,0.310 120,119,0,0.000 11.849 9.329 chr4 187630587 187630587 C T exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon2:c.G395A:p.R132Q Score=376;Name=lod=45 0.4 111 73 0.397 179 0 0.000 4.34570086866475809e-26 0.493 --- 163,96,66,0.407 151,151,0,0.000 22.287 60 chr5 216844 216844 G A exonic CCDC127 nonsynonymous SNV CCDC127:NM_145265:exon2:c.C121T:p.R41C Score=594;Name=lod=346 Score=0.95775;Name=chr5:1594142 0 0.994836 C 1.0 D 1.0 D 1.0 D 0.999993 D 4.88 35 13 0.271 70 0 0.000 2.77329177296889007e-06 0.462 --- 26,19,7,0.269 43,43,0,0.000 3.215 60 chr5 647988 647988 G A exonic CEP72 nonsynonymous SNV CEP72:NM_018140:exon11:c.G1735A:p.D579N 0.000462 0.0018 rs141203976 0.12 0.998676 C 0.94 T 0.778 P 0.995618 N 0.029397 N 3.97 50 27 0.351 119 0 0.000 4.01143806226774965e-13 0.593 --- 63,41,22,0.349 93,93,0,0.000 9.801 15.109 chr5 34042970 34042970 G A exonic C1QTNF3 synonymous SNV C1QTNF3:NM_181435:exon1:c.C261T:p.P87P Score=614;Name=lod=417 105 66 0.386 169 0 0.000 1.13689171370016462e-23 0.727 --- 146,87,59,0.404 145,145,0,0.000 20.676 13.599 chr5 112175799 112175799 C A exonic APC stopgain APC:NM_001127511:exon14:c.C4454A:p.S1485X,APC:NM_000038:exon16:c.C4508A:p.S1503X,APC:NM_001127510:exon17:c.C4508A:p.S1503X Score=605;Name=lod=383 0 0.999386 C 0.903819 NA 0.735459 NA 0.999999 D 1.0 D 5.81 28 63 0.692 180 0 0.000 5.9220495454037256e-40 0.508 --- 79,26,53,0.671 151,151,0,0.000 31.999 60 chr5 169309830 169309830 G A exonic FAM196B nonsynonymous SNV FAM196B:NM_001129891:exon2:c.C1073T:p.T358M 0.02 102 57 0.358 193 0 0.000 2.61416645729589493e-23 0.579 --- 140,88,52,0.371 169,169,0,0.000 20.640 60 chr5 176297469 176297469 G A exonic UNC5A nonsynonymous SNV UNC5A:NM_133369:exon6:c.G820A:p.G274R Score=412;Name=lod=63 0 0.997562 C 1.0 D 0.999 D 0.999922 D 0.998264 D 3.86 142 80 0.360 203 0 0.000 6.41760092590177105e-27 0.463 --- 173,108,64,0.372 161,161,0,0.000 21.223 60 chr6 73787532 73787532 G A exonic KCNQ5 synonymous SNV KCNQ5:NM_001160130:exon5:c.G840A:p.S280S,KCNQ5:NM_001160132:exon5:c.G840A:p.S280S,KCNQ5:NM_001160133:exon5:c.G840A:p.S280S,KCNQ5:NM_001160134:exon5:c.G840A:p.S280S,KCNQ5:NM_019842:exon5:c.G840A:p.S280S Score=707;Name=lod=992 0.000077 0.0005 rs201137532 98 17 0.148 77 0 0.000 0.000126165543175217422 0.706 --- 89,73,15,0.170 63,63,0,0.000 3.710 11.649 chr6 89638909 89638909 G C exonic RNGTT nonsynonymous SNV RNGTT:NM_003800:exon3:c.C252G:p.I84M Score=664;Name=lod=669 0.12 0.993255 C 0.91 T 0.0050 B 1.0 D 0.99984 D 4.45 74 19 0.204 68 0 0.000 2.12500103318088117e-05 0.579 --- 83,64,19,0.229 64,63,0,0.000 5.062 7.85 chr6 146214478 146214478 G T exonic SHPRH nonsynonymous SNV SHPRH:NM_001042683:exon28:c.C4747A:p.P1583T,SHPRH:NM_173082:exon28:c.C4759A:p.P1587T Score=644;Name=lod=554 0.01 0.99954 C 0.92 T 0.999 D 1.0 D 0.99997 D 5.09 173 82 0.322 182 0 0.000 1.49448285853327266e-22 0.390 --- 213,152,61,0.286 153,153,0,0.000 16.127 60 chr7 21940667 21940667 G A exonic DNAH11 nonsynonymous SNV DNAH11:NM_001277115:exon82:c.G13346A:p.R4449H Score=423;Name=lod=70 Score=0.90022;Name=chr8:43527925 0.000083 0.0005 rs138945257 0.15 141 223 0.613 267 0 0.000 5.32279381536152642e-73 0.578 --- 301,119,181,0.603 213,213,0,0.000 56.859 60 chr7 42063090 42063090 C T exonic GLI3 nonsynonymous SNV GLI3:NM_000168:exon10:c.G1474A:p.D492N Score=535;Name=lod=200 0 0.998873 C 0.762578 NA 0.063 B 1.0 D 0.987972 D 5.24 107 42 0.282 100 0 0.000 3.04482604166298901e-11 0.571 --- 116,83,33,0.284 85,85,0,0.000 8.775 60 chr7 42085129 42085129 G A exonic GLI3 nonsynonymous SNV GLI3:NM_000168:exon6:c.C680T:p.A227V Score=329;Name=lod=29 1 0.999622 C 0.741019 NA 0.0 B 0.999996 D 0.851887 D 5.23 58 29 0.333 94 0 0.000 3.23379854214060181e-11 0.276 --- 74,48,26,0.351 81,81,0,0.000 9.558 13.669 chr7 48046892 48046892 C T exonic SUN3 nonsynonymous SNV SUN3:NM_001030019:exon5:c.G362A:p.R121H,SUN3:NM_152782:exon6:c.G362A:p.R121H ID=COSM1090206;OCCURENCE=1(endometrium) 0.03 0.921482 N 0.96 D 0.043 B 0.969272 N 0.043902 N 2.95 78 89 0.533 126 0 0.000 1.23737715758031398e-28 0.292 --- 152,72,77,0.517 100,100,0,0.000 21.911 60 chr7 87530194 87530194 G A splicing DBF4 NM_006716:exon10:c.924+1G>A Score=343;Name=lod=33 93 27 0.225 67 0 0.000 3.79975766920014461e-06 0.407 --- 95,74,21,0.221 52,52,0,0.000 4.044 60 chr7 112555382 112555382 C A exonic C7orf60 nonsynonymous SNV C7orf60:NM_152556:exon2:c.G281T:p.G94V Score=706;Name=lod=986 0 0.999111 C 0.99 D 0.829 P 0.999999 D 0.999942 D 5.46 133 36 0.213 104 0 0.000 9.51969786156479002e-09 0.667 --- 144,111,33,0.229 88,88,0,0.000 7.482 60 chr7 121653464 121653464 T C exonic PTPRZ1 nonsynonymous SNV PTPRZ1:NM_002851:exon12:c.T4364C:p.V1455A Score=432;Name=lod=76 0 0.973395 C 0.935932 NA 0.899 D 0.999775 D 0.985824 D 4.08 185 49 0.209 178 0 0.000 1.19333299741652324e-13 0.408 --- 206,161,45,0.218 157,157,0,0.000 12.063 60 chr8 28998110 28998110 C G exonic KIF13B nonsynonymous SNV KIF13B:NM_015254:exon20:c.G2359C:p.A787P Score=472;Name=lod=111 0.14 65 37 0.363 90 0 0.000 1.90500731348582256e-12 0.351 --- 82,50,32,0.390 69,69,0,0.000 9.972 60 chr8 62578045 62578045 A G exonic ASPH nonsynonymous SNV ASPH:NM_032467:exon5:c.T398C:p.I133T,ASPH:NM_020164:exon6:c.T443C:p.I148T 0.34 0.815511 N 0.59 T 0.275795 NA 0.809222 NA 7.0E-6 N 0.21 150 72 0.324 260 0 0.000 3.46189981327230213e-28 0.472 --- 187,127,60,0.321 225,223,0,0.000 23.117 60 chr8 133492554 133492554 C T exonic KCNQ3 nonsynonymous SNV KCNQ3:NM_004519:exon1:c.G226A:p.E76K Score=251;Name=lod=14 0.04 0.965088 C 0.87 T 0.028 B 0.998489 N 0.008689 N 2.64 102 52 0.338 176 0 0.000 2.44316615733716932e-20 0.327 --- 128,84,44,0.344 156,156,0,0.000 17.354 60 chr8 133925399 133925399 C T exonic TG nonsynonymous SNV TG:NM_003235:exon20:c.C4267T:p.R1423C rs200236155 0.09 0.237121 N 0.98 D 0.512 P 0.309937 N 2.3E-5 N 0.617 99 82 0.453 170 0 0.000 2.58959670711901995e-29 0.451 --- 145,82,63,0.434 141,141,0,0.000 22.272 60 chr8 142477561 142477561 C T exonic MROH5 unknown UNKNOWN 0.000080 101 59 0.369 155 0 0.000 7.22989960345338922e-21 0.542 --- 132,82,50,0.379 131,131,0,0.000 17.253 60 chr8 145662008 145662008 C T exonic TONSL synonymous SNV TONSL:NM_013432:exon16:c.G1947A:p.L649L Score=369;Name=lod=42 156 104 0.400 266 0 0.000 2.964817033813796e-38 0.529 --- 225,134,91,0.404 228,228,0,0.000 32.687 60 chr9 96847659 96847659 G A exonic PTPDC1 nonsynonymous SNV PTPDC1:NM_001253829:exon2:c.G371A:p.R124H,PTPDC1:NM_152422:exon2:c.G365A:p.R122H,PTPDC1:NM_001253830:exon3:c.G209A:p.R70H,PTPDC1:NM_177995:exon3:c.G209A:p.R70H Score=522;Name=lod=177 rs151059467 0.26 0.999718 C 0.48 T 0.038 B 0.999997 D 0.477682 NA 5.46 99 58 0.369 132 0 0.000 1.88152838169169973e-18 0.500 --- 129,79,50,0.388 113,113,0,0.000 15.778 60 chr9 98678714 98678714 C T exonic ERCC6L2 nonsynonymous SNV ERCC6L2:NM_001010895:exon6:c.C1189T:p.R397W Score=584;Name=lod=315 0 0.980186 C 1.0 D 0.999 D 0.999904 D 0.788234 NA 2.3 70 29 0.293 123 0 0.000 4.76393215239753531e-12 0.345 --- 86,60,26,0.302 107,107,0,0.000 10.195 7.004 chr9 101980402 101980402 G T exonic ALG2 nonsynonymous SNV ALG2:NM_033087:exon2:c.C1065A:p.H355Q 0.04 0.932552 N 0.97 D 0.994 D 0.981591 U 0.543301 D 0.897 144 99 0.407 243 0 0.000 1.00495847060608959e-35 0.434 --- 204,120,83,0.409 203,203,0,0.000 29.304 60 chr9 118950309 118950309 C T exonic PAPPA nonsynonymous SNV PAPPA:NM_002581:exon2:c.C1292T:p.T431M Score=476;Name=lod=115 ID=COSM1459598;OCCURENCE=1(large_intestine) 0.01 0.986165 C 0.91 T 0.993 D 0.999975 N 0.886625 D 4.43 89 63 0.414 157 0 0.000 9.63734795788759975e-24 0.524 --- 131,78,53,0.405 136,136,0,0.000 19.326 60 chr9 134183370 134183370 C T exonic PPAPDC3 nonsynonymous SNV PPAPDC3:NM_032728:exon2:c.C512T:p.P171L Score=343;Name=lod=33 0 0.997802 C 1.0 D 1.0 D 1.0 D 0.999989 D 4.63 136 86 0.387 185 0 0.000 1.97856218657809382e-27 0.651 --- 183,111,72,0.393 164,164,0,0.000 23.482 60 chr9 136268091 136268091 G A exonic C9orf96 nonsynonymous SNV C9orf96:NM_153710:exon14:c.G1424A:p.R475K Score=300;Name=lod=22 0.07 0.99918 C 0.59 T 0.951 D 0.997416 N 0.027389 N 2.93 108 57 0.345 161 0 0.000 4.91584375503063693e-20 0.544 --- 142,86,54,0.386 133,133,0,0.000 18.353 15.955 chr10 27702728 27702728 G A exonic PTCHD3 nonsynonymous SNV PTCHD3:NM_001034842:exon1:c.C452T:p.A151V ID=COSM1347458;OCCURENCE=1(large_intestine) 0.097717 N 0.85 T 0.0 B 0.774288 N 0.259758 NA -5.09 111 56 0.335 181 0 0.000 4.32040965620268181e-21 0.482 --- 137,91,46,0.336 155,155,0,0.000 17.212 60 chr10 50108296 50108296 G A exonic WDFY4 nonsynonymous SNV WDFY4:NM_020945:exon46:c.G7468A:p.G2490R Score=523;Name=lod=178 0 58 45 0.437 109 0 0.000 1.33821838945803566e-17 0.622 --- 82,46,36,0.439 92,92,0,0.000 14.031 60 chr10 76735965 76735965 A G exonic KAT6B nonsynonymous SNV KAT6B:NM_012330:exon8:c.A1870G:p.T624A Score=778;Name=lod=1928 0.4 0.999096 C 0.98 D 0.0 B 0.999902 D 4.37E-4 N 5.62 85 54 0.388 166 0 0.000 3.54361587220341554e-22 0.481 --- 125,78,47,0.376 142,142,0,0.000 17.955 60 chr10 81053323 81053323 C G exonic ZMIZ1 nonsynonymous SNV ZMIZ1:NM_020338:exon12:c.C1143G:p.H381Q Score=670;Name=lod=704 0.19 0.021927 N 0.74 T 0.635 P 0.999422 U 0.999298 D -8.16 192 143 0.427 359 0 0.000 1.0912740878601665e-54 0.469 --- 281,165,115,0.411 302,301,0,0.000 43.132 60 chr10 111967585 111967585 C T exonic MXI1 nonsynonymous SNV MXI1:NM_130439:exon1:c.C19T:p.P7S Score=697;Name=lod=906 0 0.996207 C 1.0 D 0.889 D 0.951563 N 0.014943 N 4.13 28 26 0.481 41 0 0.000 1.4029304948101977e-08 0.385 --- 45,21,24,0.533 37,37,0,0.000 7.905 4.257 chr10 125805592 125805592 C T exonic CHST15 nonsynonymous SNV CHST15:NM_001270764:exon2:c.G137A:p.R46H,CHST15:NM_001270765:exon2:c.G137A:p.R46H,CHST15:NM_014863:exon2:c.G137A:p.R46H,CHST15:NM_015892:exon2:c.G137A:p.R46H Score=523;Name=lod=178 0.000077 rs201960331 0.12 0.922737 N 0.99 D 0.334 P 0.996345 N 0.174215 N 1.55 122 90 0.425 220 0 0.000 6.6743369397176399e-34 0.467 --- 184,107,76,0.415 187,187,0,0.000 27.590 60 chr11 26556076 26556076 C T exonic ANO3 nonsynonymous SNV ANO3:NM_031418:exon9:c.C943T:p.R315C Score=649;Name=lod=580 0 0.997935 C 1.0 D 0.954 D 0.999989 D 0.985314 D 4.68 57 21 0.269 90 0 0.000 1.91062233209815042e-08 0.333 --- 60,42,18,0.300 71,70,0,0.000 6.743 11.495 chr11 49227646 49227646 T G exonic FOLH1 nonsynonymous SNV FOLH1:NM_001014986:exon2:c.A197C:p.K66T,FOLH1:NM_004476:exon2:c.A197C:p.K66T,FOLH1:NM_001193471:exon3:c.A152C:p.K51T,FOLH1:NM_001193472:exon3:c.A152C:p.K51T Score=481;Name=lod=120 Score=0.971432;Name=chr11:89311779 0.01 0.996242 C 0.98 D 0.0060 B 0.999983 D 0.554811 NA 4.09 55 16 0.225 105 0 0.000 1.59582878301562331e-07 0.500 --- 56,43,13,0.232 82,82,0,0.000 5.494 13.95 chr11 75167838 75167838 G A exonic GDPD5 synonymous SNV GDPD5:NM_030792:exon6:c.C339T:p.A113A 75 51 0.405 110 0 0.000 5.23607721674524647e-17 0.412 --- 104,62,42,0.404 90,90,0,0.000 13.477 60 chr11 88583225 88583225 C A exonic GRM5 stopgain GRM5:NM_001143831:exon2:c.G760T:p.E254X,GRM5:NM_000842:exon3:c.G760T:p.E254X Score=529;Name=lod=188 Score=0.967624;Name=chr11:49487049 0.05 0.998814 C 0.903773 NA 0.735365 NA 1.0 D 1.0 A 5.2 39 26 0.400 73 0 0.000 1.15408200862082431e-10 0.269 --- 62,39,23,0.371 65,65,0,0.000 8.278 11.919 chr11 123448199 123448199 T G exonic GRAMD1B nonsynonymous SNV GRAMD1B:NM_020716:exon2:c.T148G:p.S50A Score=570;Name=lod=277 0.03 83 54 0.394 165 0 0.000 2.37166823884560665e-22 0.500 --- 109,68,41,0.376 131,131,0,0.000 16.248 60 chr11 132307170 132307170 C T exonic OPCML nonsynonymous SNV OPCML:NM_002545:exon4:c.G610A:p.A204T,OPCML:NM_001012393:exon5:c.G589A:p.A197T Score=474;Name=lod=113 ID=COSM1352683,COSM1352684;OCCURENCE=2(large_intestine) 0.22 0.998878 C 0.753231 NA 0.018 B 1.0 D 0.988827 D 5.25 97 69 0.416 177 0 0.000 1.68509082251838146e-26 0.449 --- 136,81,55,0.404 144,144,0,0.000 20.324 60 chr11 133712407 133712407 C T exonic SPATA19 nonsynonymous SNV SPATA19:NM_174927:exon5:c.G410A:p.R137Q Score=259;Name=lod=15 0.4 0.803678 N 0.681616 NA 0.0 B 0.978089 N 0.018543 N 1.83 53 25 0.321 88 0 0.000 5.58463595151941657e-10 0.520 --- 64,44,20,0.312 70,70,0,0.000 7.215 60 chr12 6976719 6976719 G C exonic TPI1 nonsynonymous SNV TPI1:NM_001159287:exon1:c.G100C:p.G34R 0.12 206 92 0.309 200 0 0.000 4.45236114250519528e-24 0.565 --- 238,164,74,0.311 172,172,0,0.000 19.934 60 chr12 9242991 9242991 G A exonic A2M nonsynonymous SNV A2M:NM_000014:exon20:c.C2557T:p.R853W 0 178 65 0.267 187 0 0.000 1.37694913152766873e-18 0.477 --- 190,138,52,0.274 142,142,0,0.000 14.095 60 chr12 21353506 21353506 G A exonic SLCO1B1 synonymous SNV SLCO1B1:NM_006446:exon9:c.G1035A:p.T345T 0.000077 ID=COSM39548;OCCURENCE=1(central_nervous_system) rs145167231 99 31 0.238 101 0 0.000 3.59739695807266505e-09 0.581 --- 104,78,26,0.250 83,83,0,0.000 7.296 12.922 chr12 25398284 25398284 C T exonic KRAS nonsynonymous SNV KRAS:NM_004985:exon2:c.G35A:p.G12D,KRAS:NM_033360:exon2:c.G35A:p.G12D Score=706;Name=lod=982 ID=COSM1135366,COSM521;OCCURENCE=1(salivary_gland),248(ovary),8(breast),77(stomach),107(haematopoietic_and_lymphoid_tissue),1(kidney),15(urinary_tract),20(soft_tissue),1970(pancreas),1(peritoneum),10(liver),10(oesophagus),10(gastrointestinal_tract_(site_indeterminate)),12(skin),19(prostate),615(lung),36(thyroid),15(cervix),24(upper_aerodigestive_tract),2(testis),3(eye),5503(large_intestine),1(central_nervous_system),41(small_intestine),266(biliary_tract),148(endometrium) 0.0082 rs121913529 0 0.998873 C 1.0 D 0.657 P 1.0 D 0.999991 D 5.24 73 96 0.568 110 0 0.000 3.70470195536564176e-28 0.500 --- 135,59,76,0.563 89,89,0,0.000 21.909 60 chr12 110943450 110943450 G A exonic RAD9B nonsynonymous SNV RAD9B:NM_152442:exon3:c.G146A:p.R49Q 0.0005 rs115561888 0.02 102 39 0.277 87 0 0.000 7.60922061073128435e-10 0.615 --- 123,88,35,0.285 81,81,0,0.000 8.496 14.612 chr12 119583305 119583305 G A exonic SRRM4 synonymous SNV SRRM4:NM_194286:exon9:c.G891A:p.T297T Score=476;Name=lod=115 228 52 0.186 206 0 0.000 6.71911854344484839e-14 0.731 --- 237,186,50,0.212 169,168,0,0.000 12.651 60 chr12 124184324 124184324 G A exonic TCTN2 nonsynonymous SNV TCTN2:NM_001143850:exon14:c.G1576A:p.A526T,TCTN2:NM_024809:exon14:c.G1579A:p.A527T 0.84 0.118024 N 0.25 T 0.0 B 0.053934 N 7.21E-4 N -2.71 109 27 0.199 81 0 0.000 1.8449645237633144e-06 0.630 --- 107,86,21,0.196 62,62,0,0.000 4.365 15.109 chr13 58209228 58209228 C T exonic PCDH17 nonsynonymous SNV PCDH17:NM_001040429:exon1:c.C2548T:p.R850W Score=571;Name=lod=278 0.02 0.823001 N 0.98 D 0.997 D 1.0 D 0.472886 N 4.48 157 61 0.280 219 0 0.000 2.79313850799145586e-21 0.410 --- 195,140,55,0.282 187,187,0,0.000 17.926 60 chr13 75936261 75936261 G A exonic TBC1D4 synonymous SNV TBC1D4:NM_014832:exon2:c.C981T:p.H327H 284 114 0.286 306 0 0.000 2.33200302483203234e-32 0.561 --- 344,242,102,0.297 261,261,0,0.000 28.306 60 chr14 20404069 20404069 C T exonic OR4K1 nonsynonymous SNV OR4K1:NM_001004063:exon1:c.C244T:p.L82F Score=358;Name=lod=38 0 0.979678 C 1.0 D 0.406 P 0.99816 N 0.245387 N 2.66 205 61 0.229 271 0 0.000 4.83103600877247446e-21 0.639 --- 227,172,53,0.236 233,231,0,0.000 17.788 60 chr14 33293749 33293749 T C exonic AKAP6 nonsynonymous SNV AKAP6:NM_004274:exon13:c.T6730C:p.F2244L 0.42 0.156304 N 0.55 T 0.0 B 0.013274 N 0.002527 N -1.5 107 80 0.428 198 0 0.000 1.17466702357620318e-30 0.450 --- 172,99,73,0.424 168,168,0,0.000 25.770 60 chr16 815770 815770 G A exonic MSLN nonsynonymous SNV MSLN:NM_013404:exon10:c.G875A:p.R292Q,MSLN:NM_001177355:exon11:c.G875A:p.R292Q,MSLN:NM_005823:exon11:c.G875A:p.R292Q 0.12 0.999327 C 0.91 T 0.997 D 0.998035 N 0.032017 N 3.11 133 52 0.281 181 0 0.000 7.87600014976396772e-18 0.308 --- 155,113,42,0.271 148,148,0,0.000 13.551 60 chr16 1412681 1412681 C T exonic GNPTG nonsynonymous SNV GNPTG:NM_032520:exon9:c.C679T:p.P227S 0.37 0.771982 N 0.28 T 0.0 B 0.611873 N 0.010941 N -2.07 110 75 0.405 186 0 0.000 1.59198932325090474e-27 0.480 --- 160,92,68,0.425 156,156,0,0.000 23.975 60 chr16 2048297 2048297 G A exonic ZNF598 nonsynonymous SNV ZNF598:NM_178167:exon14:c.C2651T:p.A884V Score=452;Name=lod=92 Score=0.944882;Name=chr9:90558607 0.05 157 81 0.340 237 0 0.000 2.16179489216002696e-28 0.531 --- 199,129,69,0.348 200,200,0,0.000 24.071 12.977 chr17 19451386 19451386 C T exonic SLC47A1 nonsynonymous SNV SLC47A1:NM_018242:exon4:c.C395T:p.A132V Score=525;Name=lod=181 0 0.997506 C 0.98 D 0.065 B 1.0 D 0.810003 D 4.19 121 67 0.356 160 0 0.000 2.26188253757390592e-21 0.507 --- 146,95,51,0.349 120,120,0,0.000 15.174 60 chr17 38498982 38498982 G A exonic RARA nonsynonymous SNV RARA:NM_001024809:exon1:c.G26A:p.G9D Score=625;Name=lod=463 0 0.996712 C 1.0 D 0.378339 NA 0.007878 N 0.003153 N 1.64 188 82 0.304 253 0 0.000 2.98564833001038668e-27 0.512 --- 238,166,72,0.303 224,224,0,0.000 23.213 60 chr17 73831953 73831953 G A exonic UNC13D nonsynonymous SNV UNC13D:NM_199242:exon18:c.C1579T:p.R527W Score=495;Name=lod=137 0.017915 0.02 rs75366116 0.01 0.898148 N 0.98 D 0.25 P 0.950613 N 0.016856 N 0.157 140 84 0.375 236 0 0.000 2.86981476310001226e-31 0.381 --- 202,125,76,0.378 205,205,0,0.000 27.065 60 chr17 73870694 73870694 C T exonic TRIM47 nonsynonymous SNV TRIM47:NM_033452:exon6:c.G1787A:p.R596H Score=458;Name=lod=97 0.02 0.971818 C 1.0 D 0.979 D 0.9816 N 0.496674 N 3.67 141 87 0.382 221 0 0.000 1.08293574897216464e-30 0.632 --- 201,122,79,0.393 191,191,0,0.000 26.735 60 chr18 48581201 48581201 C T exonic SMAD4 stopgain SMAD4:NM_005359:exon5:c.C505T:p.Q169X Score=592;Name=lod=338 0.84 0.999386 C 0.903819 NA 0.735457 NA 0.999988 D 1.0 A 5.81 12 37 0.755 113 0 0.000 1.94422548066820729e-26 0.649 --- 43,10,33,0.767 91,91,0,0.000 22.104 60 chr18 59483248 59483248 G A exonic RNF152 nonsynonymous SNV RNF152:NM_173557:exon2:c.C449T:p.A150V Score=329;Name=lod=29 Score=0.905582;Name=chr9:5417664 0.000615 0.0009 rs144167768 0.961008 C 0.94 T 0.0020 B 0.824045 N 0.719697 D 2.43 136 95 0.411 267 0 0.000 4.16657109372366685e-38 0.516 --- 187,113,74,0.396 222,222,0,0.000 29.402 60 chr19 8188708 8188708 G A exonic FBN3 synonymous SNV FBN3:NM_032447:exon22:c.C2916T:p.F972F Score=494;Name=lod=136 169 72 0.299 155 0 0.000 3.70313690577244935e-18 0.514 --- 199,143,55,0.278 130,130,0,0.000 13.308 11.197 chr19 14676085 14676085 C T exonic TECR nonsynonymous SNV TECR:NM_138501:exon11:c.C736T:p.P246S Score=551;Name=lod=232 0 0.993224 C 1.0 D 1.0 D 1.0 D 0.790699 NA 3.6 154 82 0.347 137 0 0.000 1.11393545886736461e-19 0.378 --- 200,135,65,0.325 122,122,0,0.000 15.449 12.038 chr19 23329149 23329149 C T exonic ZNF730 stopgain ZNF730:NM_001277403:exon4:c.C1303T:p.Q435X 0.29 167 66 0.283 167 0 0.000 5.18951487911348943e-18 0.515 --- 192,137,55,0.286 142,142,0,0.000 14.804 60 chr19 41939197 41939197 G A exonic ATP5SL synonymous SNV ATP5SL:NM_001167871:exon4:c.C495T:p.L165L,ATP5SL:NM_001167867:exon5:c.C594T:p.L198L,ATP5SL:NM_018035:exon5:c.C576T:p.L192L Score=477;Name=lod=116 202 88 0.303 204 0 0.000 9.77010387547678754e-24 0.534 --- 249,174,75,0.301 164,164,0,0.000 18.733 14.523 chr19 42599758 42599758 C T exonic POU2F2 nonsynonymous SNV POU2F2:NM_001207025:exon10:c.G893A:p.R298H,POU2F2:NM_001207026:exon10:c.G893A:p.R298H,POU2F2:NM_001247994:exon10:c.G845A:p.R282H,POU2F2:NM_002698:exon10:c.G845A:p.R282H Score=697;Name=lod=908 0 0.997412 C 1.0 D 0.999 D 1.0 D 0.995568 D 3.39 295 94 0.242 284 0 0.000 2.56701559518309794e-25 0.521 --- 343,254,87,0.255 249,249,0,0.000 22.987 60 chr19 55756705 55756705 C T exonic PPP6R1 synonymous SNV PPP6R1:NM_014931:exon4:c.G480A:p.S160S 324 93 0.223 287 0 0.000 9.10848972114393725e-24 0.409 --- 370,288,81,0.220 262,261,0,0.000 20.309 60 chr19 56029371 56029371 C T exonic SSC5D nonsynonymous SNV SSC5D:NM_001144950:exon14:c.C3728T:p.T1243M rs199879378 0.05 288 60 0.172 226 0 0.000 1.17648642747253438e-14 0.033 --- 327,227,67,0.228 205,181,2,0.011 12.728 5.178 chr22 29877031 29877031 C T exonic NEFH synonymous SNV NEFH:NM_021076:exon1:c.C780T:p.R260R Score=555;Name=lod=240 107 70 0.395 192 0 0.000 6.36306679813346528e-27 0.400 --- 156,94,62,0.397 163,163,0,0.000 22.640 15.654 chrX 37027568 37027568 G A exonic FAM47C nonsynonymous SNV FAM47C:NM_001013736:exon1:c.G1085A:p.R362H Score=0.896562;Name=chrX:34955671 0.000379 ID=COSM1557632,COSM1557631;OCCURENCE=1(lung) rs149671724 0.18 0.023172 N 0.88 T 0.300365 NA 0.582277 NA 4.6E-5 N -0.28 25 132 0.841 102 0 0.000 1.54646059088820457e-48 0.455 --- 152,22,127,0.852 92,92,0,0.000 45.056 60 chrX 41332793 41332793 C T exonic NYX synonymous SNV NYX:NM_022567:exon2:c.C87T:p.R29R 8 99 0.925 47 0 0.000 1.24999649761013816e-31 0.556 --- 95,7,87,0.926 43,43,0,0.000 27.883 60 chrX 53280063 53280063 G A exonic IQSEC2 synonymous SNV IQSEC2:NM_001111125:exon5:c.C1695T:p.D565D,IQSEC2:NM_015075:exon5:c.C1080T:p.D360D Score=661;Name=lod=648 ID=COSM1254915,COSM1254916;OCCURENCE=1(oesophagus) 125 97 0.437 127 0 0.000 4.02989976847710417e-24 0.577 --- 202,112,90,0.446 105,105,0,0.000 20.109 60 chrX 118147117 118147117 C T exonic LONRF3 nonsynonymous SNV LONRF3:NM_024778:exon8:c.C1804T:p.R602W,LONRF3:NM_001031855:exon9:c.C1927T:p.R643W Score=566;Name=lod=265 0.000095 0 0.931456 N 1.0 D 0.999 D 1.0 D 0.978973 D 1.83 82 69 0.457 87 0 0.000 1.22862166657829108e-17 0.304 --- 124,68,56,0.452 73,72,0,0.000 13.753 60 chrX 125685589 125685589 G A exonic DCAF12L1 nonsynonymous SNV DCAF12L1:NM_178470:exon1:c.C1003T:p.R335C Score=289;Name=lod=20 0 0.98581 C 1.0 D 0.999 D 0.997189 N 0.572258 D 2.43 148 107 0.420 186 0 0.000 2.37483628938819007e-31 0.458 --- 225,134,90,0.402 164,164,0,0.000 25.571 60