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 159890189 159890189 C T exonic TAGLN2 synonymous SNV TAGLN2:NM_001277223:exon2:c.G111A:p.Q37Q,TAGLN2:NM_001277224:exon2:c.G174A:p.Q58Q,TAGLN2:NM_003564:exon2:c.G111A:p.Q37Q Score=409;Name=lod=61 Score=0.967442;Name=chr8:107708984 145 137 0.486 263 0 0.000 3.16369074726225032e-49 0.540 --- 241,112,126,0.529 218,218,0,0.000 44.979 60 chr1 172628684 172628684 C T exonic FASLG stopgain FASLG:NM_000639:exon1:c.C343T:p.R115X Score=391;Name=lod=52 1 0.234407 N 0.842804 NA 0.60863 NA 0.994235 N 1.0 A -0.21 96 150 0.610 248 0 0.000 7.4565718933022682e-61 0.453 --- 216,86,128,0.598 206,205,0,0.000 49.224 60 chr1 179077095 179077095 G A exonic ABL2 nonsynonymous SNV ABL2:NM_001168236:exon11:c.C3244T:p.P1082S,ABL2:NM_001168238:exon12:c.C2935T:p.P979S,ABL2:NM_001168239:exon12:c.C2890T:p.P964S,ABL2:NM_005158:exon12:c.C3262T:p.P1088S,ABL2:NM_007314:exon12:c.C3307T:p.P1103S,ABL2:NM_001136000:exon13:c.C2953T:p.P985S,ABL2:NM_001168237:exon13:c.C2998T:p.P1000S Score=317;Name=lod=26 0.06 0.999655 C 0.98 D 0.021 B 0.999961 D 0.996032 D 5.3 255 30 0.105 278 0 0.000 8.86212346101143872e-10 0.400 --- 249,222,27,0.108 234,234,0,0.000 8.015 9.527 chr2 26706485 26706485 C T exonic OTOF nonsynonymous SNV OTOF:NM_194248:exon13:c.G1237A:p.E413K Score=587;Name=lod=325 0 0.998386 C 0.92 T 0.338 P 1.0 D 0.99927 D 4.91 89 36 0.288 100 0 0.000 5.3121129075812418e-11 0.417 --- 102,74,28,0.275 83,83,0,0.000 8.059 8.442 chr2 31756486 31756486 G A exonic SRD5A2 unknown UNKNOWN Score=510;Name=lod=157 0.000084 0 55 27 0.329 87 0 0.000 2.36390628281891981e-10 0.481 --- 66,47,19,0.288 70,70,0,0.000 6.641 11.772 chr2 101967503 101967503 T C exonic CREG2 nonsynonymous SNV CREG2:NM_153836:exon4:c.A755G:p.Q252R Score=500;Name=lod=144 0.58 0.974533 C 0.47 T 0.45 P 0.996302 N 0.006339 N 4.03 91 29 0.242 105 0 0.000 3.06466026963803904e-09 0.448 --- 103,78,25,0.243 86,86,0,0.000 7.158 60 chr2 113317087 113317087 C T exonic POLR1B synonymous SNV POLR1B:NM_001137604:exon8:c.C1380T:p.A460A,POLR1B:NM_019014:exon9:c.C1548T:p.A516A 185 53 0.223 242 0 0.000 2.65898843165650513e-18 0.340 --- 186,141,45,0.242 195,194,0,0.000 15.306 60 chr2 179642209 179642209 C A exonic TTN nonsynonymous SNV TTN:NM_003319:exon25:c.G4445T:p.W1482L,TTN:NM_133432:exon25:c.G4445T:p.W1482L,TTN:NM_133437:exon25:c.G4445T:p.W1482L,TTN:NM_001256850:exon26:c.G4583T:p.W1528L,TTN:NM_001267550:exon26:c.G4583T:p.W1528L,TTN:NM_133378:exon26:c.G4583T:p.W1528L,TTN:NM_133379:exon26:c.G4583T:p.W1528L Score=502;Name=lod=146 0.02 0.999185 C 0.98 D 0.755695 NA 0.998704 NA 0.903423 D 5.55 198 63 0.241 212 0 0.000 1.21959312765048719e-18 0.429 --- 210,160,50,0.238 167,165,2,0.012 11.295 14.913 chr2 215890498 215890498 G T exonic ABCA12 nonsynonymous SNV ABCA12:NM_015657:exon3:c.C232A:p.L78I,ABCA12:NM_173076:exon11:c.C1186A:p.L396I Score=436;Name=lod=79 0.25 0.999023 C 1.0 D 0.0090 B 0.989006 N 5.06E-4 N 3.66 68 37 0.352 73 0 0.000 1.45982339888586244e-10 0.351 --- 82,55,27,0.329 65,64,1,0.015 6.542 14.273 chr2 232653433 232653433 C T exonic COPS7B synonymous SNV COPS7B:NM_022730:exon2:c.C153T:p.N51N Score=547;Name=lod=223 0.000077 83 26 0.239 106 0 0.000 5.77805641822991985e-09 0.308 --- 91,68,23,0.253 95,95,0,0.000 7.846 8.943 chr3 37042485 37042485 A T exonic MLH1 nonsynonymous SNV MLH1:NM_000249:exon3:c.A247T:p.S83C,MLH1:NM_001258271:exon3:c.A247T:p.S83C Score=596;Name=lod=353 0 0.998929 C 1.0 D 0.999 D 1.0 D 0.991776 D 5.12 72 22 0.234 87 0 0.000 1.6461162118736379e-07 0.591 --- 72,57,15,0.208 62,62,0,0.000 4.340 12.594 chr3 44285496 44285496 G A exonic TOPAZ1 nonsynonymous SNV TOPAZ1:NM_001145030:exon2:c.G1498A:p.A500T Score=531;Name=lod=192 0 135 62 0.315 139 0 0.000 4.99185778813053813e-17 0.516 --- 170,117,53,0.312 115,115,0,0.000 13.411 60 chr3 50224087 50224087 G A exonic SEMA3F nonsynonymous SNV SEMA3F:NM_004186:exon18:c.G1855A:p.G619S Score=325;Name=lod=28 0.26 0.999747 C 0.77 T 0.862 D 1.0 D 0.999751 D 5.54 114 29 0.203 169 0 0.000 2.71148523738685164e-11 0.552 --- 114,89,24,0.212 125,125,0,0.000 8.386 13.55 chr3 52485814 52485814 T C exonic TNNC1 nonsynonymous SNV TNNC1:NM_003280:exon4:c.A263G:p.D88G Score=478;Name=lod=117 0.19 0.997852 C 0.97 D 0.029 B 1.0 D 0.996188 D 5.23 73 9 0.110 115 0 0.000 0.000286445434012609975 0.222 --- 75,66,9,0.120 96,96,0,0.000 3.345 8.967 chr3 108776198 108776198 C G exonic MORC1 synonymous SNV MORC1:NM_014429:exon13:c.G1167C:p.L389L Score=604;Name=lod=379 112 29 0.206 149 0 0.000 1.59330374112959414e-10 0.552 --- 116,91,25,0.216 129,129,0,0.000 8.779 60 chr4 47556800 47556800 C T exonic ATP10D nonsynonymous SNV ATP10D:NM_020453:exon11:c.C1693T:p.R565W Score=243;Name=lod=13 0.18 0.99875 C 0.97 D 0.0 B 0.684465 N 0.008072 N 5.14 131 27 0.171 147 0 0.000 6.71838214505505284e-09 0.519 --- 122,100,22,0.180 112,112,0,0.000 6.604 10.858 chr4 74302053 74302053 A G exonic AFP nonsynonymous SNV AFP:NM_001134:exon1:c.A74G:p.E25G Score=369;Name=lod=42 0.08 0.202754 N 0.96 D 0.025 B 0.958306 N 0.128357 N 1.43 57 40 0.412 84 0 0.000 1.29578512654101071e-13 0.450 --- 69,38,31,0.449 61,61,0,0.000 10.177 12.581 chr4 81974679 81974679 G A exonic BMP3 nonsynonymous SNV BMP3:NM_001201:exon3:c.G1408A:p.A470T Score=558;Name=lod=246 0 0.999692 C 0.99 D 0.99 D 1.0 D 0.999983 D 5.4 89 13 0.127 107 0 0.000 5.87141463515428649e-05 0.462 --- 92,81,11,0.120 102,102,0,0.000 3.709 4.671 chr4 122774171 122774171 G A exonic BBS7 synonymous SNV BBS7:NM_018190:exon8:c.C789T:p.D263D,BBS7:NM_176824:exon8:c.C789T:p.D263D Score=498;Name=lod=141 0.000077 rs140478463 93 15 0.139 151 0 0.000 1.09345290580209905e-06 0.400 --- 92,78,13,0.143 119,119,0,0.000 4.947 13.271 chr4 122853759 122853759 G A exonic TRPC3 synonymous SNV TRPC3:NM_003305:exon1:c.C435T:p.D145D,TRPC3:NM_001130698:exon2:c.C654T:p.D218D Score=595;Name=lod=348 219 92 0.296 355 0 0.000 8.25365361489986687e-35 0.511 --- 264,187,77,0.292 290,290,0,0.000 27.740 60 chr4 160273928 160273928 G A exonic RAPGEF2 synonymous SNV RAPGEF2:NM_014247:exon21:c.G3474A:p.S1158S Score=630;Name=lod=484 105 50 0.323 146 0 0.000 4.00525191614480629e-17 0.620 --- 123,79,44,0.358 117,117,0,0.000 14.743 60 chr4 175224861 175224861 G A exonic CEP44 nonsynonymous SNV CEP44:NM_001040157:exon5:c.G245A:p.R82H,CEP44:NM_001145314:exon5:c.G245A:p.R82H Score=543;Name=lod=214 0.001077 rs146429616 0 0.993961 C 0.99 D 0.998 D 1.0 D 0.962914 D 4.72 36 13 0.265 75 0 0.000 1.91401130181903924e-06 0.692 --- 40,28,12,0.300 56,56,0,0.000 5.048 9.343 chr5 453887 453887 T A exonic EXOC3 nonsynonymous SNV EXOC3:NM_007277:exon4:c.T767A:p.V256E Score=346;Name=lod=34 0 114 31 0.214 149 0 0.000 4.93669624443159983e-11 0.484 --- 123,96,26,0.213 133,133,0,0.000 8.999 14.875 chr5 1034400 1034400 G A exonic NKD2 synonymous SNV NKD2:NM_001271082:exon6:c.G381A:p.T127T,NKD2:NM_033120:exon6:c.G381A:p.T127T Score=521;Name=lod=174 65 13 0.167 109 0 0.000 6.15269963770992403e-06 0.538 --- 56,47,9,0.161 82,82,0,0.000 3.704 9.463 chr5 112137036 112137036 C T exonic APC stopgain APC:NM_001127511:exon6:c.C736T:p.Q246X,APC:NM_000038:exon8:c.C790T:p.Q264X,APC:NM_001127510:exon9:c.C790T:p.Q264X Score=593;Name=lod=342 ID=COSM25260;OCCURENCE=2(large_intestine) 0.13 0.998548 C 0.904034 NA 0.732238 NA 0.982503 N 1.0 A 5.01 103 25 0.195 120 0 0.000 2.18514973170531377e-08 0.560 --- 101,85,16,0.158 91,91,0,0.000 4.664 10.727 chr5 153830661 153830661 T G exonic SAP30L nonsynonymous SNV SAP30L:NM_024632:exon2:c.T212G:p.L71R Score=495;Name=lod=137 0 0.997986 C 1.0 D 0.838 P 1.0 D 0.999991 D 5.29 67 13 0.162 100 0 0.000 1.46873820721244317e-05 0.692 --- 74,63,11,0.149 88,87,1,0.011 2.878 12.43 chr5 178552066 178552066 C T exonic ADAMTS2 nonsynonymous SNV ADAMTS2:NM_014244:exon19:c.G2866A:p.A956T Score=539;Name=lod=207 0.000154 0.82 0.864802 N 0.13 T 0.0 B 0.997446 N 3.56E-4 N 3.01 148 23 0.135 189 0 0.000 1.59581368170686478e-08 0.478 --- 146,126,20,0.137 151,151,0,0.000 6.476 9.83 chr6 26252162 26252162 T C exonic HIST1H2BH nonsynonymous SNV HIST1H2BH:NM_003524:exon1:c.T284C:p.I95T Score=680;Name=lod=777 0 0.995554 C 0.905287 NA 0.995 D 0.999387 U 0.151082 N 4.15 382 128 0.251 495 0 0.000 2.42526538643894453e-42 0.469 --- 421,309,112,0.266 401,401,0,0.000 36.062 60 chr6 26370573 26370573 G A exonic BTN3A2 nonsynonymous SNV BTN3A2:NM_001197246:exon3:c.G457A:p.E153K,BTN3A2:NM_001197248:exon3:c.G388A:p.E130K,BTN3A2:NM_001197249:exon4:c.G331A:p.E111K,BTN3A2:NM_001197247:exon5:c.G457A:p.E153K,BTN3A2:NM_007047:exon5:c.G457A:p.E153K ID=COSM171372;OCCURENCE=1(large_intestine) 0.11 0.012531 N 0.68 T 0.064 B 0.576974 NA 0.013187 N -4.53 168 46 0.215 184 0 0.000 6.31090377788068207e-14 0.696 --- 183,140,43,0.235 163,163,0,0.000 12.957 60 chr6 27420137 27420137 C T exonic ZNF184 nonsynonymous SNV ZNF184:NM_007149:exon6:c.G1201A:p.G401R Score=435;Name=lod=78 0.53 0.98329 C 0.37 T 0.983 D 0.999938 D 0.715012 D 2.83 170 74 0.303 204 0 0.000 7.69232959419513192e-23 0.527 --- 210,147,63,0.300 179,179,0,0.000 19.058 60 chr6 84234378 84234378 C T exonic PRSS35 synonymous SNV PRSS35:NM_153362:exon2:c.C1218T:p.N406N,PRSS35:NM_001170423:exon3:c.C1218T:p.N406N Score=363;Name=lod=40 0.000077 ID=COSM1319058;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 150 18 0.107 204 0 0.000 3.60802768383945617e-07 0.333 --- 146,131,15,0.103 163,163,0,0.000 5.057 4.846 chr7 37354483 37354483 C T exonic ELMO1 nonsynonymous SNV ELMO1:NM_001206480:exon4:c.G163A:p.D55N,ELMO1:NM_001206482:exon4:c.G163A:p.D55N,ELMO1:NM_014800:exon4:c.G163A:p.D55N Score=466;Name=lod=104 0 0.999 C 0.97 D 0.962 D 0.999999 D 0.999396 D 4.27 86 25 0.225 86 0 0.000 2.55333370965311433e-07 0.480 --- 81,64,17,0.210 66,66,0,0.000 4.574 10.208 chr7 42012036 42012036 G A exonic GLI3 nonsynonymous SNV GLI3:NM_000168:exon13:c.C2003T:p.P668L Score=486;Name=lod=126 0.000154 rs143009880 0.18 0.773551 N 0.680889 NA 0.0010 B 0.994077 N 0.039241 N 0.785 146 54 0.270 139 0 0.000 1.59642754867489421e-14 0.519 --- 161,115,46,0.286 109,109,0,0.000 11.481 60 chr7 99247821 99247821 T C exonic CYP3A5 nonsynonymous SNV CYP3A5:NM_000777:exon12:c.A1288G:p.I430V 1 0.032208 N 0.0 T 0.0 NA 0.672886 N 2.01E-4 N -5.19 116 40 0.256 132 0 0.000 3.0327308389492705e-12 0.400 --- 131,97,34,0.260 113,113,0,0.000 10.114 60 chr7 99699542 99699542 T C exonic AP4M1 nonsynonymous SNV AP4M1:NM_004722:exon2:c.T98C:p.F33S Score=544;Name=lod=217 0 0.99809 C 1.0 D 0.999 D 1.0 D 0.993848 D 4.83 118 47 0.285 153 0 0.000 1.02364215607508857e-15 0.532 --- 144,100,44,0.306 136,136,0,0.000 14.330 60 chr7 120740134 120740134 C T exonic CPED1 nonsynonymous SNV CPED1:NM_001105533:exon6:c.C904T:p.R302C,CPED1:NM_024913:exon7:c.C904T:p.R302C Score=599;Name=lod=361 0.000154 ID=COSM202495;OCCURENCE=1(large_intestine) rs145131821 0 0.998857 C 0.85 T 1.0 D 0.999497 N 0.318069 N 4.41 105 15 0.125 132 0 0.000 9.01427352758154812e-06 0.200 --- 100,87,13,0.130 106,106,0,0.000 4.266 6.651 chr8 17063200 17063200 C A exonic ZDHHC2 nonsynonymous SNV ZDHHC2:NM_016353:exon7:c.C513A:p.F171L Score=655;Name=lod=613 0.000085 ID=COSM264802;OCCURENCE=1(large_intestine) 0.01 74 18 0.196 168 0 0.000 2.32913510185486713e-09 0.556 --- 70,54,16,0.229 128,128,0,0.000 7.761 7.501 chr8 86171667 86171667 C T exonic CA13 nonsynonymous SNV CA13:NM_198584:exon3:c.C253T:p.L85F Score=272;Name=lod=17 0.11 0.999392 C 0.96 D 0.012 B 0.999999 D 0.865189 D 5.82 58 65 0.528 130 0 0.000 2.69256268119616333e-26 0.692 --- 104,49,55,0.529 101,101,0,0.000 20.407 60 chr8 110476678 110476678 G A exonic PKHD1L1 synonymous SNV PKHD1L1:NM_177531:exon49:c.G7617A:p.Q2539Q Score=735;Name=lod=1299 215 26 0.108 174 0 0.000 4.4302249496353206e-07 0.577 --- 224,200,23,0.103 153,152,0,0.000 5.152 14.841 chr8 110980791 110980791 G A exonic KCNV1 synonymous SNV KCNV1:NM_014379:exon3:c.C1029T:p.Y343Y Score=529;Name=lod=188 183 26 0.124 176 0 0.000 7.74056948972970876e-08 0.462 --- 174,150,24,0.138 143,142,0,0.000 6.479 8.935 chr9 39133122 39133122 C T exonic CNTNAP3 synonymous SNV CNTNAP3:NM_033655:exon13:c.G1887A:p.A629A Score=0.989467;Name=chr9:65584333 ID=COSM1248655;OCCURENCE=1(oesophagus) 127 63 0.332 220 0 0.000 1.21402436374879478e-24 0.254 --- 163,111,52,0.319 185,185,0,0.000 19.363 11.934 chr9 90311938 90311938 C T exonic DAPK1 synonymous SNV DAPK1:NM_004938:exon22:c.C2430T:p.S810S Score=621;Name=lod=447 32 13 0.289 36 0 0.000 0.000350688549079654866 0.692 --- 33,24,9,0.273 33,33,0,0.000 2.681 12.888 chr9 90321099 90321099 G A exonic DAPK1 nonsynonymous SNV DAPK1:NM_004938:exon26:c.G3113A:p.R1038H Score=540;Name=lod=208 0.01 0.992856 C 1.0 D 0.994 D 0.999933 D 0.999728 D 4.19 92 19 0.171 103 0 0.000 2.06147185730491271e-06 0.579 --- 97,79,17,0.177 79,79,0,0.000 4.510 13.52 chr9 97321365 97321365 G A exonic FBP2 nonsynonymous SNV FBP2:NM_003837:exon7:c.C875T:p.A292V Score=439;Name=lod=81 0.000077 rs144554592 0 0.999799 C 1.0 D 0.919 D 1.0 D 0.772813 NA 5.19 91 19 0.173 102 0 0.000 2.05297986531298174e-06 0.316 --- 90,75,15,0.167 86,86,0,0.000 4.470 5.83 chr9 131117469 131117469 G A exonic SLC27A4 nonsynonymous SNV SLC27A4:NM_005094:exon10:c.G1462A:p.G488S Score=518;Name=lod=170 0 0.999669 C 1.0 D 0.967 D 1.0 D 0.784041 NA 4.81 104 33 0.241 118 0 0.000 1.92549684528768129e-10 0.333 --- 119,90,29,0.244 109,109,0,0.000 8.975 60 chr10 13378339 13378339 C T exonic SEPHS1 synonymous SNV SEPHS1:NM_001195602:exon3:c.G108A:p.A36A,SEPHS1:NM_001195604:exon4:c.G309A:p.A103A,SEPHS1:NM_012247:exon4:c.G309A:p.A103A Score=606;Name=lod=386 ID=COSM1474481,COSM1474482;OCCURENCE=1(breast) rs201414633 66 12 0.154 69 0 0.000 0.000389820654998688338 0.500 --- 60,51,9,0.150 54,54,0,0.000 2.508 8.905 chr10 31816027 31816027 A G exonic ZEB1 synonymous SNV ZEB1:NM_001174093:exon8:c.A3150G:p.E1050E,ZEB1:NM_001174095:exon8:c.A3009G:p.E1003E,ZEB1:NM_001128128:exon9:c.A3162G:p.E1054E,ZEB1:NM_001174094:exon9:c.A3159G:p.E1053E,ZEB1:NM_001174096:exon9:c.A3213G:p.E1071E,ZEB1:NM_030751:exon9:c.A3210G:p.E1070E 99 13 0.116 122 0 0.000 4.71045015725754898e-05 0.615 --- 113,99,13,0.116 121,119,0,0.000 4.252 8.78 chr10 37422916 37422916 C T exonic ANKRD30A synonymous SNV ANKRD30A:NM_052997:exon5:c.C522T:p.D174D Score=0.915583;Name=chr10:45680038 0.000581 155 31 0.167 200 0 0.000 3.61194026230243742e-11 0.516 --- 142,117,24,0.170 148,148,0,0.000 7.956 14.423 chr10 96602724 96602724 C A exonic CYP2C19 synonymous SNV CYP2C19:NM_000769:exon7:c.C1092A:p.T364T 184 27 0.128 221 0 0.000 1.59633039303425892e-09 0.370 --- 161,139,22,0.137 180,180,0,0.000 7.523 12.694 chr10 108371773 108371773 G A exonic SORCS1 nonsynonymous SNV SORCS1:NM_001013031:exon22:c.C2929T:p.R977W,SORCS1:NM_001206569:exon22:c.C2929T:p.R977W,SORCS1:NM_001206570:exon22:c.C2929T:p.R977W,SORCS1:NM_001206571:exon22:c.C2929T:p.R977W,SORCS1:NM_001206572:exon22:c.C2929T:p.R977W,SORCS1:NM_052918:exon22:c.C2929T:p.R977W Score=473;Name=lod=112 0 0.994764 C 1.0 D 0.985 D 0.999509 D 0.970288 D 4.73 48 21 0.304 59 0 0.000 7.60220467685630482e-07 0.286 --- 58,40,18,0.310 53,53,0,0.000 5.665 13.148 chr10 114925319 114925319 A G exonic TCF7L2 nonsynonymous SNV TCF7L2:NM_001198530:exon11:c.A1153G:p.K385E,TCF7L2:NM_001146286:exon12:c.A1255G:p.K419E,TCF7L2:NM_001146283:exon13:c.A1396G:p.K466E,TCF7L2:NM_001146284:exon13:c.A1294G:p.K432E,TCF7L2:NM_001146285:exon13:c.A1328G:p.K443R,TCF7L2:NM_001198526:exon13:c.A1328G:p.K443R,TCF7L2:NM_001198529:exon13:c.A1306G:p.K436E,TCF7L2:NM_001198531:exon13:c.A1324G:p.K442E,TCF7L2:NM_001146274:exon14:c.A1397G:p.K466R,TCF7L2:NM_030756:exon14:c.A1379G:p.K460R Score=744;Name=lod=1413 0 0.998099 C 1.0 D 0.92 D 1.0 D 0.772763 NA 4.9 84 38 0.311 143 0 0.000 3.99458099603538186e-15 0.711 --- 109,76,33,0.303 124,122,0,0.000 12.072 60 chr11 1282780 1282780 C T exonic MUC5B nonsynonymous SNV MUC5B:NM_002458:exon49:c.C17231T:p.A5744V 138 30 0.179 187 0 0.000 4.01030654633368883e-11 0.400 --- 131,108,23,0.176 156,155,0,0.000 8.296 60 chr11 27679469 27679469 C T exonic BDNF nonsynonymous SNV BDNF:NM_170735:exon1:c.G643A:p.V215M,BDNF:NM_001143805:exon2:c.G643A:p.V215M,BDNF:NM_001143806:exon2:c.G643A:p.V215M,BDNF:NM_001143807:exon2:c.G643A:p.V215M,BDNF:NM_001143808:exon2:c.G643A:p.V215M,BDNF:NM_001143809:exon2:c.G730A:p.V244M,BDNF:NM_001143812:exon2:c.G643A:p.V215M,BDNF:NM_001143813:exon2:c.G643A:p.V215M,BDNF:NM_001143816:exon2:c.G643A:p.V215M,BDNF:NM_001709:exon2:c.G643A:p.V215M,BDNF:NM_170731:exon2:c.G667A:p.V223M,BDNF:NM_170732:exon2:c.G643A:p.V215M,BDNF:NM_170733:exon2:c.G643A:p.V215M,BDNF:NM_170734:exon2:c.G688A:p.V230M,BDNF:NM_001143810:exon3:c.G889A:p.V297M,BDNF:NM_001143814:exon3:c.G643A:p.V215M,BDNF:NM_001143811:exon4:c.G643A:p.V215M Score=655;Name=lod=613 0 0.999329 C 1.0 D 0.159 P 1.0 D 0.99973 D 5.73 207 47 0.185 274 0 0.000 1.01656407624792017e-16 0.617 --- 209,170,39,0.187 217,217,0,0.000 12.926 13.3 chr11 67163804 67163804 G A exonic RAD9A nonsynonymous SNV RAD9A:NM_001243224:exon6:c.G577A:p.D193N,RAD9A:NM_004584:exon9:c.G805A:p.D269N 0.12 0.784737 N 0.9 T 0.031 B 0.497537 N 0.808143 D -1.51 151 45 0.230 242 0 0.000 8.32407638675579232e-18 0.378 --- 163,126,37,0.227 196,196,0,0.000 13.777 15.176 chr11 88924578 88924578 C A exonic TYR nonsynonymous SNV TYR:NM_000372:exon2:c.C1028A:p.T343K Score=539;Name=lod=206 0 0.99887 C 1.0 D 0.961 D 0.999596 D 0.455921 N 5.24 94 32 0.254 149 0 0.000 1.24503572591337201e-12 0.344 --- 105,78,27,0.257 126,126,0,0.000 10.151 11.757 chr11 102820866 102820866 C T exonic MMP13 nonsynonymous SNV MMP13:NM_002427:exon6:c.G890A:p.R297Q Score=497;Name=lod=140 0 0.999133 C 1.0 D 0.981 D 1.0 D 0.999915 D 5.49 69 21 0.233 107 0 0.000 1.71688432936223448e-08 0.571 --- 71,54,16,0.229 83,83,0,0.000 5.887 60 chr11 108042941 108042941 G C exonic NPAT nonsynonymous SNV NPAT:NM_002519:exon13:c.C2770G:p.P924A Score=472;Name=lod=110 0.03 0.999672 C 1.0 D 0.998 D 0.999992 D 0.22319 N 5.36 76 20 0.208 130 0 0.000 1.03483249722407626e-08 0.800 --- 84,65,19,0.226 106,106,0,0.000 7.288 60 chr12 5604093 5604093 G A exonic NTF3 nonsynonymous SNV NTF3:NM_002527:exon1:c.G713A:p.R238Q,NTF3:NM_001102654:exon2:c.G752A:p.R251Q Score=533;Name=lod=195 0 0.999549 C 1.0 D 0.999 D 0.999992 D 0.994628 D 5.1 164 36 0.180 229 0 0.000 1.85238268169342097e-13 0.333 --- 166,135,31,0.187 181,180,0,0.000 10.585 11.201 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 5.24 101 45 0.308 145 0 0.000 1.01865694347504291e-15 0.422 --- 117,80,37,0.316 111,111,0,0.000 12.117 15.176 chr13 84453750 84453750 G A exonic SLITRK1 synonymous SNV SLITRK1:NM_052910:exon1:c.C1893T:p.S631S Score=726;Name=lod=1195 285 174 0.379 294 0 0.000 5.9270245986178533e-45 0.552 --- 391,241,150,0.384 236,236,0,0.000 36.575 60 chr13 101266677 101266677 T A exonic TMTC4 nonsynonymous SNV TMTC4:NM_001079669:exon15:c.A1787T:p.D596V,TMTC4:NM_032813:exon16:c.A1844T:p.D615V Score=448;Name=lod=88 0.02 0.997562 C 0.98 D 0.655 P 1.0 D 0.989277 D 5.09 104 26 0.200 106 0 0.000 5.86101669516213303e-08 0.308 --- 102,82,20,0.196 86,86,0,0.000 5.494 10.847 chr14 71576248 71576248 G A exonic PCNX nonsynonymous SNV PCNX:NM_014982:exon35:c.G6824A:p.R2275Q Score=631;Name=lod=489 0 0.999823 C 1.0 D 0.997 D 1.0 D 0.999893 D 5.81 85 27 0.241 123 0 0.000 3.17212670086755855e-10 0.667 --- 93,69,24,0.258 92,92,0,0.000 7.664 13.827 chr14 89041060 89041060 G A exonic ZC3H14 synonymous SNV ZC3H14:NM_001160103:exon7:c.G885A:p.K295K,ZC3H14:NM_001160104:exon7:c.G885A:p.K295K,ZC3H14:NM_024824:exon7:c.G885A:p.K295K,ZC3H14:NM_207660:exon7:c.G885A:p.K295K,ZC3H14:NM_207661:exon7:c.G783A:p.K261K Score=582;Name=lod=308 128 26 0.169 172 0 0.000 1.01116674035968564e-09 0.846 --- 136,113,23,0.169 144,144,0,0.000 7.666 5.12 chr15 101865197 101865197 G A exonic PCSK6 unknown UNKNOWN Score=395;Name=lod=54 51 25 0.329 130 0 0.000 7.89308743652483136e-13 0.320 --- 65,43,22,0.338 107,107,0,0.000 10.437 13.981 chr16 2018610 2018610 G A exonic RNF151 nonsynonymous SNV RNF151:NM_174903:exon4:c.G422A:p.R141H Score=393;Name=lod=53 0.23 188 81 0.301 261 0 0.000 1.31465410045474969e-27 0.543 --- 228,160,68,0.298 210,210,0,0.000 21.685 60 chr16 4387277 4387277 G A exonic GLIS2 nonsynonymous SNV GLIS2:NM_032575:exon6:c.G1327A:p.E443K Score=564;Name=lod=261 0.01 0.999709 C 0.99 D 0.566686 NA 0.999878 D 0.046406 N 5.44 186 62 0.250 239 0 0.000 9.91130841509150928e-21 0.532 --- 216,157,59,0.273 206,205,0,0.000 19.036 12.61 chr16 5097914 5097914 G A exonic C16orf89 nonsynonymous SNV C16orf89:NM_001098514:exon7:c.C920T:p.S307L,C16orf89:NM_152459:exon7:c.C920T:p.S307L ID=COSM1378272,COSM1378273,COSM1378274;OCCURENCE=1(large_intestine) 0.0082 0.36 0.883863 N 0.81 T 0.424429 NA 0.905092 N 2.91E-4 N 2.17 31 8 0.205 60 0 0.000 0.000359365875904990465 0.750 --- 30,24,6,0.200 41,41,0,0.000 2.382 8.882 chr16 58287925 58287925 A G exonic CCDC113 synonymous SNV CCDC113:NM_014157:exon3:c.A252G:p.K84K Score=304;Name=lod=23 91 36 0.283 126 0 0.000 1.6076473470485977e-12 0.694 --- 107,75,32,0.299 108,108,0,0.000 10.889 60 chr17 7577022 7577022 G A exonic TP53 stopgain TP53:NM_001126115:exon4:c.C520T:p.R174X,TP53:NM_001126116:exon4:c.C520T:p.R174X,TP53:NM_001126117:exon4:c.C520T:p.R174X,TP53:NM_001276697:exon4:c.C439T:p.R147X,TP53:NM_001276698:exon4:c.C439T:p.R147X,TP53:NM_001276699:exon4:c.C439T:p.R147X,TP53:NM_001126118:exon7:c.C799T:p.R267X,TP53:NM_000546:exon8:c.C916T:p.R306X,TP53:NM_001126112:exon8:c.C916T:p.R306X,TP53:NM_001126113:exon8:c.C916T:p.R306X,TP53:NM_001126114:exon8:c.C916T:p.R306X,TP53:NM_001276695:exon8:c.C799T:p.R267X,TP53:NM_001276696:exon8:c.C799T:p.R267X,TP53:NM_001276760:exon8:c.C799T:p.R267X,TP53:NM_001276761:exon8:c.C799T:p.R267X Score=383;Name=lod=48 ID=COSM10663,COSM99947;OCCURENCE=11(ovary),21(breast),1(NS),1(haematopoietic_and_lymphoid_tissue),7(stomach),1(kidney),3(pancreas),1(liver),15(oesophagus),4(lung),12(upper_aerodigestive_tract),35(large_intestine),7(central_nervous_system),2(biliary_tract),5(endometrium) 0.0082 rs121913344 1 0.965567 C 0.913416 NA 0.595512 NA 0.237404 N 1.0 A 2.66 60 52 0.464 180 0 0.000 1.88340315263720412e-26 0.519 --- 98,48,49,0.505 151,151,0,0.000 24.230 60 chr17 18769227 18769227 G A exonic PRPSAP2 synonymous SNV PRPSAP2:NM_001243940:exon2:c.G81A:p.S27S,PRPSAP2:NM_001243936:exon3:c.G81A:p.S27S,PRPSAP2:NM_002767:exon3:c.G81A:p.S27S 108 20 0.156 159 0 0.000 3.98728996439497445e-08 0.450 --- 99,83,16,0.162 131,130,0,0.000 6.151 10.111 chr17 34093677 34093677 C T exonic MMP28 unknown UNKNOWN Score=409;Name=lod=61 0.01 196 22 0.101 254 0 0.000 2.28588325675370238e-08 0.455 --- 195,176,19,0.097 220,220,0,0.000 6.444 3.405 chr17 62486991 62486991 C T exonic POLG2 synonymous SNV POLG2:NM_007215:exon4:c.G891A:p.K297K Score=507;Name=lod=153 51 38 0.427 85 0 0.000 6.68087376981494899e-14 0.447 --- 66,39,27,0.409 67,67,0,0.000 9.687 60 chr18 8069950 8069950 C T exonic PTPRM nonsynonymous SNV PTPRM:NM_001105244:exon8:c.C1399T:p.R467W,PTPRM:NM_002845:exon8:c.C1399T:p.R467W 0.919468 N 0.99 D 0.925 D 0.997475 N 0.944959 D 2.72 96 38 0.284 189 0 0.000 8.66006162400171033e-17 0.289 --- 112,81,31,0.277 155,155,0,0.000 12.903 12.073 chr19 407263 407263 G A exonic C2CD4C nonsynonymous SNV C2CD4C:NM_001136263:exon2:c.C1099T:p.R367C Score=682;Name=lod=786 0 154 94 0.379 222 0 0.000 2.49666545657041724e-31 0.479 --- 209,133,76,0.364 189,187,0,0.000 24.456 60 chr19 1462126 1462126 C T exonic APC2 synonymous SNV APC2:NM_005883:exon14:c.C1803T:p.G601G 162 22 0.120 235 0 0.000 6.50309893960026382e-09 0.591 --- 154,136,18,0.117 188,188,0,0.000 6.488 6.021 chr19 6854031 6854031 G A exonic VAV1 synonymous SNV VAV1:NM_001258206:exon25:c.G2340A:p.S780S,VAV1:NM_001258207:exon25:c.G2310A:p.S770S,VAV1:NM_005428:exon26:c.G2406A:p.S802S Score=549;Name=lod=227 164 53 0.244 242 0 0.000 1.26194128211489833e-19 0.623 --- 173,129,44,0.254 201,201,0,0.000 16.192 12.546 chr19 18561547 18561547 T C exonic ELL nonsynonymous SNV ELL:NM_006532:exon8:c.A1205G:p.N402S Score=393;Name=lod=53 0.79 0.953871 C 0.0 T 0.73 P 0.999999 D 0.986293 D 3.3 211 90 0.299 318 1 0.003 9.84067164851342463e-31 0.644 1.000 278,199,78,0.282 296,293,1,0.003 25.654 60 chr19 18649083 18649083 C T exonic FKBP8 nonsynonymous SNV FKBP8:NM_012181:exon5:c.G715A:p.V239I Score=378;Name=lod=46 0.44 0.995471 C 0.42 T 0.0030 B 0.999997 D 0.266009 N 3.44 149 21 0.124 180 0 0.000 1.31937847008021197e-07 0.619 --- 140,121,19,0.136 146,146,0,0.000 6.185 7.79 chr19 18779802 18779802 A T exonic KLHL26 nonsynonymous SNV KLHL26:NM_018316:exon3:c.A1595T:p.Y532F Score=439;Name=lod=81 0 0.996386 C 1.0 D 0.997 D 1.0 D 0.996399 D 4.26 189 32 0.145 261 0 0.000 3.93908950160100451e-12 0.375 --- 196,168,25,0.130 228,228,0,0.000 8.858 13.041 chr19 35550831 35550831 C T exonic HPN nonsynonymous SNV HPN:NM_182983:exon6:c.C344T:p.S115L,HPN:NM_002151:exon7:c.C344T:p.S115L Score=443;Name=lod=84 0.06 0.970148 C 0.727904 NA 0.02 B 0.991297 N 0.587057 D 2.56 150 23 0.133 192 0 0.000 1.53157532804225145e-08 0.348 --- 153,133,20,0.131 160,160,0,0.000 6.512 6.681 chr19 39913784 39913784 G T exonic PLEKHG2 nonsynonymous SNV PLEKHG2:NM_022835:exon18:c.G2090T:p.G697V 0 0.894811 N 1.0 D 0.983 D 0.993715 N 1.0 D -0.102 154 59 0.277 214 0 0.000 1.39330779174119318e-20 0.542 --- 192,136,55,0.288 192,192,0,0.000 18.602 60 chr19 53116887 53116887 G A exonic ZNF83 nonsynonymous SNV ZNF83:NM_001277951:exon3:c.C931T:p.H311Y,ZNF83:NM_018300:exon3:c.C931T:p.H311Y,ZNF83:NM_001105552:exon4:c.C931T:p.H311Y,ZNF83:NM_001105554:exon4:c.C847T:p.H283Y,ZNF83:NM_001277946:exon4:c.C931T:p.H311Y,ZNF83:NM_001105550:exon5:c.C931T:p.H311Y,ZNF83:NM_001105551:exon5:c.C931T:p.H311Y,ZNF83:NM_001242538:exon5:c.C847T:p.H283Y,ZNF83:NM_001277948:exon5:c.C931T:p.H311Y,ZNF83:NM_001277949:exon5:c.C931T:p.H311Y,ZNF83:NM_001277952:exon5:c.C931T:p.H311Y,ZNF83:NM_001105549:exon6:c.C931T:p.H311Y,ZNF83:NM_001277945:exon6:c.C931T:p.H311Y,ZNF83:NM_001277947:exon6:c.C931T:p.H311Y,ZNF83:NM_001105553:exon7:c.C847T:p.H283Y,ZNF83:NM_001242531:exon7:c.C847T:p.H283Y Score=374;Name=lod=44 0 0.987584 C 1.0 D 1.0 D 0.877868 NA 0.003712 N 2.14 173 45 0.206 238 0 0.000 2.69258543556818284e-16 0.489 --- 192,142,40,0.220 208,195,0,0.000 13.732 60 chr19 56520181 56520181 C A exonic NLRP5 nonsynonymous SNV NLRP5:NM_153447:exon3:c.C470A:p.T157K 0.08 40 18 0.310 83 0 0.000 1.84349335927189677e-08 0.667 --- 46,31,15,0.326 64,64,0,0.000 6.361 15.955 chr20 9543572 9543572 C A exonic PAK7 nonsynonymous SNV PAK7:NM_177990:exon6:c.G1582T:p.G528C,PAK7:NM_020341:exon7:c.G1582T:p.G528C Score=571;Name=lod=279 0 0.999262 C 1.0 D 0.999 D 1.0 D 1.0 D 5.64 52 26 0.333 88 0 0.000 2.09918940021651829e-10 0.500 --- 63,42,21,0.333 69,69,0,0.000 7.653 9.953 chr20 31827671 31827671 G A exonic BPIFA1 nonsynonymous SNV BPIFA1:NM_001243193:exon4:c.G383A:p.R128H,BPIFA1:NM_016583:exon4:c.G383A:p.R128H,BPIFA1:NM_130852:exon4:c.G383A:p.R128H Score=452;Name=lod=92 0.000077 0.11 0.994716 C 0.81 T 0.805 P 0.999877 D 0.223995 N 3.36 156 41 0.208 141 0 0.000 4.2124774278745607e-11 0.585 --- 165,130,35,0.212 109,108,0,0.000 8.159 60 chr20 48129691 48129691 G A exonic PTGIS stopgain PTGIS:NM_000961:exon8:c.C1132T:p.R378X Score=343;Name=lod=33 0.000077 1 0.998706 C 0.903765 NA 0.735347 NA 1.0 D 1.0 A 4.31 221 54 0.196 214 0 0.000 4.02825995125104941e-15 0.407 --- 219,177,41,0.188 172,172,0,0.000 10.876 15.256 chr20 57251342 57251342 C T exonic STX16 stopgain STX16:NM_001134772:exon8:c.C961T:p.R321X,STX16:NM_003763:exon8:c.C910T:p.R304X,STX16:NM_001001433:exon9:c.C973T:p.R325X,STX16:NM_001134773:exon9:c.C922T:p.R308X,STX16:NM_001204868:exon10:c.C814T:p.R272X Score=632;Name=lod=493 1 0.999302 C 0.782279 NA 0.414424 NA 0.859229 NA 7.01E-4 N 5.69 95 21 0.181 116 0 0.000 3.5278556220206604e-07 0.476 --- 95,78,17,0.179 90,90,0,0.000 5.118 10.864 chr20 61050069 61050069 C T exonic GATA5 nonsynonymous SNV GATA5:NM_080473:exon2:c.G509A:p.R170H Score=265;Name=lod=16 0 0.959916 C 1.0 D 0.997 D 0.991127 N 0.966375 D 3.03 106 91 0.462 162 0 0.000 7.96318912480803542e-30 0.637 --- 174,91,82,0.474 140,140,0,0.000 26.086 8.212 chr20 62737743 62737743 C T exonic NPBWR2 nonsynonymous SNV NPBWR2:NM_005286:exon1:c.G442A:p.A148T Score=457;Name=lod=96 0.25 0.991947 C 0.43 T 0.738 P 0.999969 U 0.063223 N 3.46 217 153 0.414 246 0 0.000 1.23247828046450201e-41 0.431 --- 320,187,133,0.416 209,209,0,0.000 34.925 60 chr21 46101992 46101992 G A exonic KRTAP12-1 nonsynonymous SNV KRTAP12-1:NM_181686:exon1:c.C47T:p.A16V Score=0.938543;Name=chr21:46085687 0.01 rs199622339 1 0.001824 N 0.71635 NA 0.098988 NA 0.001296 N 2.4E-5 N -2.53 192 67 0.259 281 0 0.000 2.53329601953930986e-24 0.418 --- 209,154,55,0.263 227,226,0,0.000 19.356 60 chr22 41566533 41566533 G T exonic EP300 nonsynonymous SNV EP300:NM_001429:exon27:c.G4410T:p.M1470I Score=693;Name=lod=873 0 0.999576 C 1.0 D 0.766668 NA 0.999993 D 0.901405 D 5.15 105 39 0.271 120 0 0.000 5.40143542109768139e-12 0.462 --- 113,82,31,0.274 98,98,0,0.000 9.264 60 chrX 48321301 48321301 C T exonic SLC38A5 nonsynonymous SNV SLC38A5:NM_033518:exon9:c.G556A:p.A186T Score=511;Name=lod=159 0 0.876414 N 0.99 D 0.883 D 1.0 D 0.99947 D 2.13 47 14 0.230 56 0 0.000 6.15803229755936519e-05 0.500 --- 44,34,10,0.227 44,44,0,0.000 2.959 9.216 chrX 150911622 150911622 T G exonic CNGA2 nonsynonymous SNV CNGA2:NM_005140:exon7:c.T647G:p.I216S Score=546;Name=lod=220 0.28 0.996509 C 0.75 T 0.858 D 0.999999 D 0.397747 N 4.71 34 45 0.570 78 0 0.000 7.29627313324320482e-18 0.733 --- 66,29,37,0.561 67,66,0,0.000 13.944 60 chrX 152158969 152158969 G A exonic PNMA5 nonsynonymous SNV PNMA5:NM_001103150:exon2:c.C1174T:p.R392C,PNMA5:NM_052926:exon2:c.C1174T:p.R392C,PNMA5:NM_001103151:exon3:c.C1174T:p.R392C,PNMA5:NM_001184924:exon4:c.C1174T:p.R392C 0.02 0.962505 C 1.0 D 0.998 D 0.895634 NA 0.175749 N 1.47 70 82 0.539 147 0 0.000 2.37795132667334218e-31 0.500 --- 129,59,70,0.543 132,132,0,0.000 27.178 60