Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs BLCA 23 105937496 105937496 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chrX:105937496G>C c.264G>C c.(262-264)aaG>aaC p.K88N BLCA 23 105970542 105970542 + Silent SNP T T C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chrX:105970542T>C c.399T>C c.(397-399)caT>caC p.H133H BLCA 23 106016180 106016180 + Silent SNP G G T TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chrX:106016180G>T c.522G>T c.(520-522)ctG>ctT p.L174L BLCA 23 106016353 106016353 + Missense_Mutation SNP G G A TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chrX:106016353G>A c.695G>A c.(694-696)cGa>cAa p.R232Q BLCA 23 106034371 106034371 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chrX:106034371G>A c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K BLCA 23 106034389 106034390 + Frame_Shift_Ins INS - - A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chrX:106034389_106034390insA c.1078_1079insA c.(1078-1080)gagfs p.E360fs BLCA 23 106038818 106038818 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chrX:106038818C>G c.1162C>G c.(1162-1164)Cta>Gta p.L388V BRCA 23 105937248 105937248 + Missense_Mutation SNP A A G TCGA-A8-A099-01A-11W-A019-09 TCGA-A8-A099-10A-01W-A021-09 g.chrX:105937248A>G c.16A>G c.(16-18)Agg>Ggg p.R6G BRCA 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs BRCA 23 105937522 105937522 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 g.chrX:105937522G>A c.290G>A c.(289-291)aGa>aAa p.R97K BRCA 23 105970246 105970246 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 g.chrX:105970246G>A c.103G>A c.(103-105)Ggt>Agt p.G35S BRCA 23 105970597 105970597 + Missense_Mutation SNP C C T TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chrX:105970597C>T c.454C>T c.(454-456)Cgc>Tgc p.R152C BRCA 23 106034297 106034297 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:106034297T>G c.986T>G c.(985-987)gTg>gGg p.V329G CESC 23 105937389 105937389 + Missense_Mutation SNP G G A TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 g.chrX:105937389G>A c.157G>A c.(157-159)Gtt>Att p.V53I CESC 23 105970452 105970452 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chrX:105970452G>A c.309G>A c.(307-309)acG>acA p.T103T CESC 23 105970628 105970628 + Splice_Site SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 g.chrX:105970628G>A c.e1+1 COAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COAD 23 105937256 105937257 + Frame_Shift_Del DEL TT TT - TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chrX:105937256_105937257delTT c.24_25delTT c.(22-27)agttttfs p.F10fs COAD 23 105937542 105937543 + Frame_Shift_Ins INS - - A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chrX:105937542_105937543insA c.310_311insA c.(310-312)gaafs p.E104fs COAD 23 105970197 105970197 + Silent SNP C C A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chrX:105970197C>A c.54C>A c.(52-54)tcC>tcA p.S18S COAD 23 105970253 105970253 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:105970253delG c.110delG c.(109-111)cggfs p.R37fs COAD 23 105970348 105970348 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chrX:105970348G>A c.205G>A c.(205-207)Ggc>Agc p.G69S COAD 23 105970371 105970371 + Silent SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:105970371G>A c.228G>A c.(226-228)ccG>ccA p.P76P COAD 23 106028343 106028343 + Missense_Mutation SNP C C T TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chrX:106028343C>T c.781C>T c.(781-783)Cgc>Tgc p.R261C COAD 23 106031159 106031159 + Silent SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chrX:106031159T>C c.816T>C c.(814-816)ccT>ccC p.P272P COAD 23 106038846 106038846 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:106038846C>A c.1190C>A c.(1189-1191)tCt>tAt p.S397Y COAD 23 106038929 106038929 + Nonsense_Mutation SNP G G T TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chrX:106038929G>T c.1273G>T c.(1273-1275)Gaa>Taa p.E425* COADREAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COADREAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COADREAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COADREAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COADREAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COADREAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COADREAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs COADREAD 23 105937256 105937257 + Frame_Shift_Del DEL TT TT - TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chrX:105937256_105937257delTT c.24_25delTT c.(22-27)agttttfs p.F10fs COADREAD 23 105937542 105937543 + Frame_Shift_Ins INS - - A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chrX:105937542_105937543insA c.310_311insA c.(310-312)gaafs p.E104fs COADREAD 23 105970197 105970197 + Silent SNP C C A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chrX:105970197C>A c.54C>A c.(52-54)tcC>tcA p.S18S COADREAD 23 105970253 105970253 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:105970253delG c.110delG c.(109-111)cggfs p.R37fs COADREAD 23 105970343 105970343 + Missense_Mutation SNP A A T TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chrX:105970343A>T c.200A>T c.(199-201)gAg>gTg p.E67V COADREAD 23 105970348 105970348 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chrX:105970348G>A c.205G>A c.(205-207)Ggc>Agc p.G69S COADREAD 23 105970371 105970371 + Silent SNP G G A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chrX:105970371G>A c.228G>A c.(226-228)ccG>ccA p.P76P COADREAD 23 106028343 106028343 + Missense_Mutation SNP C C T TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chrX:106028343C>T c.781C>T c.(781-783)Cgc>Tgc p.R261C COADREAD 23 106031159 106031159 + Silent SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chrX:106031159T>C c.816T>C c.(814-816)ccT>ccC p.P272P COADREAD 23 106038846 106038846 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chrX:106038846C>A c.1190C>A c.(1189-1191)tCt>tAt p.S397Y COADREAD 23 106038929 106038929 + Nonsense_Mutation SNP G G T TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chrX:106038929G>T c.1273G>T c.(1273-1275)Gaa>Taa p.E425* DLBC 23 105970554 105970554 + Missense_Mutation SNP G G C TCGA-FA-A6HO-01A-11D-A31X-10 TCGA-FA-A6HO-10A-01D-A31X-10 g.chrX:105970554G>C c.411G>C c.(409-411)gaG>gaC p.E137D ESCA 23 106031215 106031215 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chrX:106031215G>T c.872G>T c.(871-873)cGc>cTc p.R291L GBM 23 105970562 105970562 + Missense_Mutation SNP C C T TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chrX:105970562C>T c.419C>T c.(418-420)gCg>gTg p.A140V GBM 23 106038858 106038858 + Missense_Mutation SNP A A G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 g.chrX:106038858A>G c.1202A>G c.(1201-1203)gAt>gGt p.D401G GBMLGG 23 105937249 105937249 + Missense_Mutation SNP G G T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chrX:105937249G>T c.17G>T c.(16-18)aGg>aTg p.R6M GBMLGG 23 105937389 105937389 + Missense_Mutation SNP G G A TCGA-DU-A5TY-01A-11D-A289-08 TCGA-DU-A5TY-10A-01D-A289-08 g.chrX:105937389G>A c.157G>A c.(157-159)Gtt>Att p.V53I GBMLGG 23 105970562 105970562 + Missense_Mutation SNP C C T TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chrX:105970562C>T c.419C>T c.(418-420)gCg>gTg p.A140V GBMLGG 23 106016254 106016254 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:106016254A>T c.596A>T c.(595-597)cAt>cTt p.H199L GBMLGG 23 106038858 106038858 + Missense_Mutation SNP A A G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 g.chrX:106038858A>G c.1202A>G c.(1201-1203)gAt>gGt p.D401G HNSC 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs HNSC 23 105937342 105937342 + Missense_Mutation SNP A A G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 g.chrX:105937342A>G c.110A>G c.(109-111)tAc>tGc p.Y37C HNSC 23 105937453 105937453 + Missense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chrX:105937453A>T c.221A>T c.(220-222)aAc>aTc p.N74I HNSC 23 106016281 106016281 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chrX:106016281delT c.623delT c.(622-624)attfs p.I208fs KIPAN 23 105970574 105970574 + Missense_Mutation SNP T T C TCGA-CZ-4861-01A-01D-1373-10 TCGA-CZ-4861-11A-01D-1373-10 g.chrX:105970574T>C c.431T>C c.(430-432)gTc>gCc p.V144A KIPAN 23 105970595 105970595 + Frame_Shift_Del DEL C C - TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chrX:105970595delC c.452delC c.(451-453)accfs p.T151fs KIPAN 23 106034465 106034465 + Splice_Site SNP G G A TCGA-P4-A5ED-01A-11D-A28G-10 TCGA-P4-A5ED-11A-11D-A28G-10 g.chrX:106034465G>A c.e6+1 KIRC 23 105970574 105970574 + Missense_Mutation SNP T T C TCGA-CZ-4861-01A-01D-1373-10 TCGA-CZ-4861-11A-01D-1373-10 g.chrX:105970574T>C c.431T>C c.(430-432)gTc>gCc p.V144A KIRC 23 105970595 105970595 + Frame_Shift_Del DEL C C - TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chrX:105970595delC c.452delC c.(451-453)accfs p.T151fs KIRP 23 106034465 106034465 + Splice_Site SNP G G A TCGA-P4-A5ED-01A-11D-A28G-10 TCGA-P4-A5ED-11A-11D-A28G-10 g.chrX:106034465G>A c.e6+1 LGG 23 105937249 105937249 + Missense_Mutation SNP G G T TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chrX:105937249G>T c.17G>T c.(16-18)aGg>aTg p.R6M LGG 23 105937389 105937389 + Missense_Mutation SNP G G A TCGA-DU-A5TY-01A-11D-A289-08 TCGA-DU-A5TY-10A-01D-A289-08 g.chrX:105937389G>A c.157G>A c.(157-159)Gtt>Att p.V53I LGG 23 106016254 106016254 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:106016254A>T c.596A>T c.(595-597)cAt>cTt p.H199L LIHC 23 105970236 105970236 + Silent SNP G G A TCGA-CC-A8HV-01A-11D-A35Z-10 TCGA-CC-A8HV-10A-01D-A35Z-10 g.chrX:105970236G>A c.93G>A c.(91-93)ccG>ccA p.P31P LIHC 23 105970375 105970375 + Nonsense_Mutation SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chrX:105970375G>T c.232G>T c.(232-234)Gag>Tag p.E78* LIHC 23 105970508 105970508 + Missense_Mutation SNP G G A TCGA-DD-AAE0-01A-11D-A40R-10 TCGA-DD-AAE0-10A-01D-A40U-10 g.chrX:105970508G>A c.365G>A c.(364-366)cGc>cAc p.R122H LUAD 23 105937328 105937328 + Frame_Shift_Del DEL G G - TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chrX:105937328delG c.96delG c.(94-96)gtgfs p.V32fs LUAD 23 105937354 105937354 + Missense_Mutation SNP G G T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chrX:105937354G>T c.122G>T c.(121-123)aGc>aTc p.S41I LUAD 23 105970235 105970235 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chrX:105970235C>G c.92C>G c.(91-93)cCg>cGg p.P31R LUAD 23 105970359 105970359 + Silent SNP C C A TCGA-62-8402-01A-11D-2323-08 TCGA-62-8402-10A-01D-2323-08 g.chrX:105970359C>A c.216C>A c.(214-216)ggC>ggA p.G72G LUAD 23 105970443 105970443 + Silent SNP G G C TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chrX:105970443G>C c.300G>C c.(298-300)acG>acC p.T100T LUAD 23 105970490 105970490 + Missense_Mutation SNP G G T TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chrX:105970490G>T c.347G>T c.(346-348)tGg>tTg p.W116L LUAD 23 105970514 105970514 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chrX:105970514G>T c.371G>T c.(370-372)gGg>gTg p.G124V LUAD 23 106016175 106016175 + Missense_Mutation SNP A A C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chrX:106016175A>C c.517A>C c.(517-519)Aat>Cat p.N173H LUAD 23 106016273 106016273 + Missense_Mutation SNP C C A TCGA-55-A494-01A-11D-A24P-08 TCGA-55-A494-10A-01D-A24P-08 g.chrX:106016273C>A c.615C>A c.(613-615)caC>caA p.H205Q LUAD 23 106033443 106033443 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chrX:106033443C>T c.915C>T c.(913-915)gaC>gaT p.D305D LUAD 23 106033448 106033448 + Missense_Mutation SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chrX:106033448G>T c.920G>T c.(919-921)tGg>tTg p.W307L LUAD 23 106034405 106034405 + Missense_Mutation SNP G G T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chrX:106034405G>T c.1094G>T c.(1093-1095)gGa>gTa p.G365V LUAD 23 106038880 106038880 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chrX:106038880C>G c.1224C>G c.(1222-1224)aaC>aaG p.N408K LUSC 23 105970510 105970510 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chrX:105970510G>A c.367G>A c.(367-369)Ggc>Agc p.G123S LUSC 23 106031167 106031167 + Missense_Mutation SNP A A G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chrX:106031167A>G c.824A>G c.(823-825)gAt>gGt p.D275G OV 23 106016295 106016295 + Missense_Mutation SNP G G C TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 g.chrX:106016295G>C c.637G>C c.(637-639)Gtg>Ctg p.V213L OV 23 106034427 106034427 + Silent SNP A A G TCGA-24-1567-01A-01W-0615-10 TCGA-24-1567-10A-01W-0615-10 g.chrX:106034427A>G c.1116A>G c.(1114-1116)acA>acG p.T372T PAAD 23 105937255 105937256 + Frame_Shift_Ins INS - - T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 g.chrX:105937255_105937256insT c.23_24insT c.(22-27)agttttfs p.SF8fs PAAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs PAAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs PAAD 23 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 g.chrX:105937256delT c.24delT c.(22-24)agtfs p.S8fs PAAD 23 105970227 105970227 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 g.chrX:105970227C>T c.84C>T c.(82-84)gcC>gcT p.A28A PAAD 23 106016155 106016155 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:106016155T>G c.497T>G c.(496-498)aTt>aGt p.I166S PAAD 23 106016311 106016311 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:106016311T>G c.653T>G c.(652-654)aTt>aGt p.I218S READ 23 105970343 105970343 + Missense_Mutation SNP A A T TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chrX:105970343A>T c.200A>T c.(199-201)gAg>gTg p.E67V SARC 23 105970351 105970351 + Missense_Mutation SNP G G A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 g.chrX:105970351G>A c.208G>A c.(208-210)Gtg>Atg p.V70M SKCM 23 105937241 105937241 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrX:105937241G>A c.9G>A c.(7-9)caG>caA p.Q3Q SKCM 23 105937258 105937258 + Missense_Mutation SNP T T G TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chrX:105937258T>G c.26T>G c.(25-27)tTt>tGt p.F9C SKCM 23 105937347 105937347 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrX:105937347G>A c.115G>A c.(115-117)Gaa>Aaa p.E39K SKCM 23 105970251 105970251 + Silent SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chrX:105970251C>T c.108C>T c.(106-108)tcC>tcT p.S36S SKCM 23 106016214 106016214 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chrX:106016214G>A c.556G>A c.(556-558)Ggc>Agc p.G186S SKCM 23 106016278 106016278 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chrX:106016278C>T c.620C>T c.(619-621)tCa>tTa p.S207L SKCM 23 106016288 106016288 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrX:106016288C>T c.630C>T c.(628-630)ttC>ttT p.F210F SKCM 23 106016362 106016362 + Missense_Mutation SNP G G A TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chrX:106016362G>A c.704G>A c.(703-705)cGg>cAg p.R235Q SKCM 23 106033472 106033472 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chrX:106033472C>G c.944C>G c.(943-945)cCc>cGc p.P315R SKCM 23 106034423 106034423 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chrX:106034423G>A c.1112G>A c.(1111-1113)gGa>gAa p.G371E SKCM 23 106038899 106038899 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chrX:106038899G>A c.1243G>A c.(1243-1245)Gaa>Aaa p.E415K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN X 105937443 105937443 single base substitution A G missense_variant K44E 130A>G BLCA-CN X 105937443 105937443 single base substitution A G missense_variant K71E 211A>G BLCA-CN X 106038812 106038812 single base substitution G A missense_variant E360K 1078G>A BLCA-CN X 106038812 106038812 single base substitution G A missense_variant E386K 1156G>A BLCA-CN X 106038995 106038995 single base substitution C G 3_prime_UTR_variant BLCA-US X 105937496 105937496 single base substitution G C missense_variant K61N 183G>C BLCA-US X 105937496 105937496 single base substitution G C missense_variant K88N 264G>C BLCA-US X 105970542 105970542 single base substitution T C intron_variant BLCA-US X 105970542 105970542 single base substitution T C synonymous_variant H133H 399T>C BLCA-US X 106038818 106038818 single base substitution C G missense_variant L362V 1084C>G BLCA-US X 106038818 106038818 single base substitution C G missense_variant L388V 1162C>G BOCA-FR X 105954655 105954655 single base substitution T A intron_variant BOCA-FR X 105968368 105968368 single base substitution C A intron_variant BOCA-FR X 105968368 105968368 single base substitution C A upstream_gene_variant BOCA-FR X 105979205 105979205 single base substitution G A intron_variant BRCA-EU X 105932455 105932455 single base substitution T A upstream_gene_variant BRCA-EU X 105932685 105932685 single base substitution C A upstream_gene_variant BRCA-EU X 105934467 105934467 single base substitution T C upstream_gene_variant BRCA-EU X 105936394 105936394 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 105936907 105936907 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 105938746 105938746 single base substitution C T intron_variant BRCA-EU X 105939112 105939112 single base substitution C G intron_variant BRCA-EU X 105943542 105943542 single base substitution T C intron_variant BRCA-EU X 105943812 105943812 single base substitution C T intron_variant BRCA-EU X 105945811 105945811 single base substitution A C intron_variant BRCA-EU X 105948120 105948120 single base substitution T A intron_variant BRCA-EU X 105948257 105948257 single base substitution C G intron_variant BRCA-EU X 105949440 105949440 single base substitution C A intron_variant BRCA-EU X 105949529 105949529 single base substitution G T intron_variant BRCA-EU X 105949627 105949627 deletion of <=200bp A - intron_variant BRCA-EU X 105949769 105949769 single base substitution A G intron_variant BRCA-EU X 105949874 105949874 single base substitution C G intron_variant BRCA-EU X 105950592 105950592 single base substitution C G intron_variant BRCA-EU X 105952878 105952878 single base substitution G C intron_variant BRCA-EU X 105952934 105952934 single base substitution G T intron_variant BRCA-EU X 105953203 105953203 single base substitution A T intron_variant BRCA-EU X 105953388 105953388 single base substitution C G intron_variant BRCA-EU X 105953860 105953860 single base substitution G A intron_variant BRCA-EU X 105956295 105956295 single base substitution G C intron_variant BRCA-EU X 105956686 105956686 single base substitution G A intron_variant BRCA-EU X 105956892 105956892 single base substitution G C intron_variant BRCA-EU X 105957494 105957494 deletion of <=200bp T - intron_variant BRCA-EU X 105960572 105960572 single base substitution A G intron_variant BRCA-EU X 105961221 105961221 single base substitution G C intron_variant BRCA-EU X 105962211 105962211 single base substitution T C intron_variant BRCA-EU X 105962828 105962828 single base substitution C G intron_variant BRCA-EU X 105963177 105963177 single base substitution T A intron_variant BRCA-EU X 105963369 105963369 single base substitution G C intron_variant BRCA-EU X 105964140 105964140 single base substitution G C intron_variant BRCA-EU X 105964819 105964819 single base substitution G A intron_variant BRCA-EU X 105965048 105965048 single base substitution T A intron_variant BRCA-EU X 105965048 105965048 single base substitution T A upstream_gene_variant BRCA-EU X 105965473 105965473 single base substitution G T intron_variant BRCA-EU X 105965473 105965473 single base substitution G T upstream_gene_variant BRCA-EU X 105965614 105965614 single base substitution C G intron_variant BRCA-EU X 105965614 105965614 single base substitution C G upstream_gene_variant BRCA-EU X 105966524 105966524 single base substitution C T intron_variant BRCA-EU X 105966524 105966524 single base substitution C T upstream_gene_variant BRCA-EU X 105966667 105966667 single base substitution C T intron_variant BRCA-EU X 105966667 105966667 single base substitution C T upstream_gene_variant BRCA-EU X 105968110 105968110 single base substitution G A intron_variant BRCA-EU X 105968110 105968110 single base substitution G A upstream_gene_variant BRCA-EU X 105969531 105969531 single base substitution C G intron_variant BRCA-EU X 105969531 105969531 single base substitution C G upstream_gene_variant BRCA-EU X 105969595 105969595 single base substitution G C intron_variant BRCA-EU X 105969595 105969595 single base substitution G C upstream_gene_variant BRCA-EU X 105969893 105969893 single base substitution A G intron_variant BRCA-EU X 105969893 105969893 single base substitution A G upstream_gene_variant BRCA-EU X 105970241 105970241 single base substitution C G intron_variant BRCA-EU X 105970241 105970241 single base substitution C G missense_variant A33G 98C>G BRCA-EU X 105971471 105971471 deletion of <=200bp A - intron_variant BRCA-EU X 105973306 105973306 single base substitution G A intron_variant BRCA-EU X 105975112 105975112 single base substitution C T intron_variant BRCA-EU X 105975922 105975922 single base substitution T C intron_variant BRCA-EU X 105976910 105976910 single base substitution A G intron_variant BRCA-EU X 105976944 105976944 single base substitution T A intron_variant BRCA-EU X 105977008 105977008 single base substitution G A intron_variant BRCA-EU X 105977716 105977757 deletion of <=200bp AGTAGCTTTTCTATTATAATGATGGCTACTGAACTATAAACT - intron_variant BRCA-EU X 105978049 105978049 single base substitution G T intron_variant BRCA-EU X 105980275 105980275 single base substitution C A intron_variant BRCA-EU X 105980354 105980354 single base substitution G A intron_variant BRCA-EU X 105981103 105981103 single base substitution G A intron_variant BRCA-EU X 105981305 105981305 single base substitution A G intron_variant BRCA-EU X 105981681 105981681 single base substitution G C intron_variant BRCA-EU X 105981706 105981706 single base substitution A G intron_variant BRCA-EU X 105982399 105982399 deletion of <=200bp T - intron_variant BRCA-EU X 105985662 105985662 single base substitution G T intron_variant BRCA-EU X 105985935 105985935 single base substitution G T intron_variant BRCA-EU X 105986448 105986448 single base substitution G A intron_variant BRCA-EU X 105987910 105987910 single base substitution C G intron_variant BRCA-EU X 105988669 105988669 single base substitution T G intron_variant BRCA-EU X 105988958 105988958 single base substitution C T intron_variant BRCA-EU X 105989639 105989639 deletion of <=200bp A - intron_variant BRCA-EU X 105990371 105990371 single base substitution G C intron_variant BRCA-EU X 105990655 105990655 single base substitution A T intron_variant BRCA-EU X 105993203 105993203 single base substitution T C intron_variant BRCA-EU X 105993364 105993364 single base substitution C T intron_variant BRCA-EU X 105993969 105993969 deletion of <=200bp A - intron_variant BRCA-EU X 105994290 105994290 single base substitution C T intron_variant BRCA-EU X 105994361 105994361 single base substitution C T intron_variant BRCA-EU X 105994784 105994784 single base substitution T C intron_variant BRCA-EU X 105995817 105995817 single base substitution G A intron_variant BRCA-EU X 105996506 105996506 single base substitution G A intron_variant BRCA-EU X 105997705 105997705 single base substitution G A intron_variant BRCA-EU X 105999450 105999450 single base substitution G T intron_variant BRCA-EU X 105999637 105999637 single base substitution G C intron_variant BRCA-EU X 106001230 106001230 single base substitution C G intron_variant BRCA-EU X 106001908 106001908 single base substitution G A intron_variant BRCA-EU X 106003751 106003751 single base substitution T G intron_variant BRCA-EU X 106006958 106006958 single base substitution G A intron_variant BRCA-EU X 106008990 106008990 single base substitution A T intron_variant BRCA-EU X 106010108 106010108 single base substitution G A intron_variant BRCA-EU X 106011725 106011725 single base substitution A C intron_variant BRCA-EU X 106013237 106013237 single base substitution G A intron_variant BRCA-EU X 106013611 106013611 single base substitution C T intron_variant BRCA-EU X 106013684 106013684 insertion of <=200bp - T intron_variant BRCA-EU X 106014766 106014766 single base substitution C T intron_variant BRCA-EU X 106015368 106015368 single base substitution G A intron_variant BRCA-EU X 106016249 106016249 single base substitution A G synonymous_variant K144K 432A>G BRCA-EU X 106016249 106016249 single base substitution A G synonymous_variant K171K 513A>G BRCA-EU X 106016249 106016249 single base substitution A G synonymous_variant K197K 591A>G BRCA-EU X 106016889 106016889 single base substitution A G intron_variant BRCA-EU X 106017006 106017006 single base substitution C G intron_variant BRCA-EU X 106017145 106017145 single base substitution A T intron_variant BRCA-EU X 106017978 106017978 single base substitution C G intron_variant BRCA-EU X 106019233 106019233 single base substitution C T intron_variant BRCA-EU X 106019945 106019945 single base substitution G T intron_variant BRCA-EU X 106019948 106019948 insertion of <=200bp - T intron_variant BRCA-EU X 106020466 106020468 deletion of <=200bp GAA - intron_variant BRCA-EU X 106022258 106022258 single base substitution C G intron_variant BRCA-EU X 106023601 106023601 deletion of <=200bp A - intron_variant BRCA-EU X 106024015 106024015 single base substitution G T intron_variant BRCA-EU X 106024682 106024682 single base substitution A T intron_variant BRCA-EU X 106024830 106024830 deletion of <=200bp C - intron_variant BRCA-EU X 106025347 106025347 single base substitution G C intron_variant BRCA-EU X 106025773 106025773 single base substitution T C intron_variant BRCA-EU X 106025990 106025990 single base substitution G T intron_variant BRCA-EU X 106025991 106025991 single base substitution C G intron_variant BRCA-EU X 106026017 106026017 single base substitution G T intron_variant BRCA-EU X 106026086 106026086 single base substitution G A intron_variant BRCA-EU X 106026647 106026647 single base substitution A G intron_variant BRCA-EU X 106026674 106026674 single base substitution C G intron_variant BRCA-EU X 106026729 106026729 single base substitution G C intron_variant BRCA-EU X 106027815 106027815 single base substitution C G intron_variant BRCA-EU X 106027940 106027940 insertion of <=200bp - A intron_variant BRCA-EU X 106030021 106030021 single base substitution C A intron_variant BRCA-EU X 106031164 106031164 single base substitution G C missense_variant G221A 662G>C BRCA-EU X 106031164 106031164 single base substitution G C missense_variant G248A 743G>C BRCA-EU X 106031164 106031164 single base substitution G C missense_variant G274A 821G>C BRCA-EU X 106032854 106032854 single base substitution T C intron_variant BRCA-EU X 106033035 106033035 single base substitution A G intron_variant BRCA-EU X 106034054 106034054 single base substitution C G downstream_gene_variant BRCA-EU X 106034054 106034054 single base substitution C G intron_variant BRCA-EU X 106034206 106034206 single base substitution A G downstream_gene_variant BRCA-EU X 106034206 106034206 single base substitution A G intron_variant BRCA-EU X 106035436 106035436 single base substitution G C downstream_gene_variant BRCA-EU X 106035436 106035436 single base substitution G C intron_variant BRCA-EU X 106036529 106036529 single base substitution G A downstream_gene_variant BRCA-EU X 106036529 106036529 single base substitution G A intron_variant BRCA-EU X 106037193 106037193 single base substitution G C downstream_gene_variant BRCA-EU X 106037193 106037193 single base substitution G C intron_variant BRCA-EU X 106037318 106037318 deletion of <=200bp C - downstream_gene_variant BRCA-EU X 106037318 106037318 deletion of <=200bp C - intron_variant BRCA-EU X 106037749 106037749 single base substitution A C downstream_gene_variant BRCA-EU X 106037749 106037749 single base substitution A C intron_variant BRCA-EU X 106039104 106039104 single base substitution A G 3_prime_UTR_variant BRCA-EU X 106039584 106039584 single base substitution T A 3_prime_UTR_variant BRCA-EU X 106039936 106039936 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU X 106040572 106040572 single base substitution A G downstream_gene_variant BRCA-EU X 106040617 106040617 single base substitution G A downstream_gene_variant BRCA-EU X 106041359 106041359 single base substitution C G downstream_gene_variant BRCA-EU X 106042576 106042576 single base substitution G T downstream_gene_variant BRCA-EU X 106043182 106043182 single base substitution C A downstream_gene_variant BRCA-EU X 106043812 106043812 single base substitution C T downstream_gene_variant BRCA-EU X 106044758 106044758 single base substitution C G downstream_gene_variant BRCA-FR X 105943812 105943812 single base substitution C T intron_variant BRCA-FR X 105949440 105949440 single base substitution C A intron_variant BRCA-FR X 105949693 105949693 single base substitution C A intron_variant BRCA-FR X 105957551 105957551 single base substitution G T intron_variant BRCA-FR X 105965473 105965473 single base substitution G T intron_variant BRCA-FR X 105965473 105965473 single base substitution G T upstream_gene_variant BRCA-FR X 105977008 105977008 single base substitution G A intron_variant BRCA-FR X 105980354 105980354 single base substitution G A intron_variant BRCA-FR X 105981103 105981103 single base substitution G A intron_variant BRCA-FR X 105986448 105986448 single base substitution G A intron_variant BRCA-FR X 105990371 105990371 single base substitution G C intron_variant BRCA-FR X 105990655 105990655 single base substitution A T intron_variant BRCA-FR X 105999637 105999637 single base substitution G C intron_variant BRCA-FR X 106003751 106003751 single base substitution T G intron_variant BRCA-FR X 106006958 106006958 single base substitution G A intron_variant BRCA-FR X 106009548 106009548 single base substitution T G intron_variant BRCA-FR X 106010108 106010108 single base substitution G A intron_variant BRCA-FR X 106013237 106013237 single base substitution G A intron_variant BRCA-FR X 106015368 106015368 single base substitution G A intron_variant BRCA-FR X 106025990 106025990 single base substitution G T intron_variant BRCA-FR X 106025991 106025991 single base substitution C G intron_variant BRCA-FR X 106031308 106031308 single base substitution G C intron_variant BRCA-FR X 106034054 106034054 single base substitution C G downstream_gene_variant BRCA-FR X 106034054 106034054 single base substitution C G intron_variant BRCA-FR X 106035436 106035436 single base substitution G C downstream_gene_variant BRCA-FR X 106035436 106035436 single base substitution G C intron_variant BRCA-UK X 105945811 105945811 single base substitution A C intron_variant BRCA-UK X 105956686 105956686 single base substitution G A intron_variant BRCA-UK X 105961221 105961221 single base substitution G C intron_variant BRCA-UK X 105963177 105963177 single base substitution T A intron_variant BRCA-UK X 105990633 105990633 single base substitution G A intron_variant BRCA-UK X 106004008 106004008 single base substitution C G intron_variant BRCA-UK X 106006821 106006821 single base substitution C G intron_variant BRCA-UK X 106035283 106035283 single base substitution C T downstream_gene_variant BRCA-UK X 106035283 106035283 single base substitution C T intron_variant BRCA-UK X 106035352 106035352 single base substitution C T downstream_gene_variant BRCA-UK X 106035352 106035352 single base substitution C T intron_variant BRCA-US X 105937248 105937248 single base substitution A G intron_variant BRCA-US X 105937248 105937248 single base substitution A G missense_variant R6G 16A>G BRCA-US X 105937256 105937256 deletion of <=200bp T - frameshift_variant S8 BRCA-US X 105937256 105937256 deletion of <=200bp T - intron_variant BRCA-US X 105937522 105937522 single base substitution G A missense_variant R70K 209G>A BRCA-US X 105937522 105937522 single base substitution G A missense_variant R97K 290G>A BRCA-US X 105970246 105970246 single base substitution G A intron_variant BRCA-US X 105970246 105970246 single base substitution G A missense_variant G35S 103G>A BRCA-US X 105970597 105970597 single base substitution C T intron_variant BRCA-US X 105970597 105970597 single base substitution C T missense_variant R152C 454C>T BRCA-US X 106034297 106034297 single base substitution T G downstream_gene_variant BRCA-US X 106034297 106034297 single base substitution T G missense_variant V303G 908T>G BRCA-US X 106034297 106034297 single base substitution T G missense_variant V329G 986T>G BTCA-JP X 105937256 105937256 deletion of <=200bp T - frameshift_variant S8 BTCA-JP X 105937256 105937256 deletion of <=200bp T - intron_variant BTCA-JP X 106016314 106016314 single base substitution C T missense_variant T166M 497C>T BTCA-JP X 106016314 106016314 single base substitution C T missense_variant T193M 578C>T BTCA-JP X 106016314 106016314 single base substitution C T missense_variant T219M 656C>T BTCA-JP X 106028280 106028280 deletion of <=200bp T - intron_variant CESC-US X 105937389 105937389 single base substitution G A missense_variant V26I 76G>A CESC-US X 105937389 105937389 single base substitution G A missense_variant V53I 157G>A CESC-US X 105970452 105970452 single base substitution G A intron_variant CESC-US X 105970452 105970452 single base substitution G A synonymous_variant T103T 309G>A CESC-US X 105970628 105970628 single base substitution G A intron_variant CESC-US X 105970628 105970628 single base substitution G A splice_donor_variant CLLE-ES X 105933402 105933402 single base substitution T A upstream_gene_variant CLLE-ES X 105945882 105945882 single base substitution T C intron_variant CLLE-ES X 105946815 105946815 single base substitution A C intron_variant CLLE-ES X 105947845 105947845 single base substitution G C intron_variant CLLE-ES X 105948314 105948314 single base substitution T G intron_variant CLLE-ES X 105957427 105957427 single base substitution C A intron_variant CLLE-ES X 105961386 105961386 single base substitution T C intron_variant CLLE-ES X 105961867 105961867 single base substitution G A intron_variant CLLE-ES X 105962366 105962366 single base substitution C A intron_variant CLLE-ES X 105974550 105974550 single base substitution T C intron_variant CLLE-ES X 105977069 105977069 single base substitution T C intron_variant CLLE-ES X 105998683 105998683 single base substitution C A intron_variant CLLE-ES X 105998865 105998865 single base substitution T C intron_variant CLLE-ES X 105999126 105999126 single base substitution A T intron_variant CLLE-ES X 106018358 106018358 single base substitution G T intron_variant CLLE-ES X 106020954 106020954 single base substitution C A intron_variant CLLE-ES X 106027303 106027303 single base substitution T G intron_variant CLLE-ES X 106033801 106033801 single base substitution T A downstream_gene_variant CLLE-ES X 106033801 106033801 single base substitution T A intron_variant COAD-US X 105937256 105937257 deletion of <=200bp TT - frameshift_variant SF8 COAD-US X 105937256 105937257 deletion of <=200bp TT - intron_variant COAD-US X 105937542 105937542 insertion of <=200bp - A frameshift_variant E104R? COAD-US X 105937542 105937542 insertion of <=200bp - A frameshift_variant E77R? COAD-US X 105970197 105970197 single base substitution C A intron_variant COAD-US X 105970197 105970197 single base substitution C A synonymous_variant S18S 54C>A COAD-US X 105970253 105970253 deletion of <=200bp G - frameshift_variant R37 COAD-US X 105970253 105970253 deletion of <=200bp G - intron_variant COAD-US X 106038846 106038846 single base substitution C A missense_variant S371Y 1112C>A COAD-US X 106038846 106038846 single base substitution C A missense_variant S397Y 1190C>A COCA-CN X 105937212 105937212 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant COCA-CN X 105937212 105937212 single base substitution T G intron_variant COCA-CN X 105937275 105937275 single base substitution A G intron_variant COCA-CN X 105937275 105937275 single base substitution A G missense_variant I15V 43A>G COCA-CN X 105937492 105937492 single base substitution C A missense_variant T60N 179C>A COCA-CN X 105937492 105937492 single base substitution C A missense_variant T87N 260C>A COCA-CN X 105937704 105937704 single base substitution G T intron_variant EOPC-DE X 105985624 105985624 single base substitution A T intron_variant EOPC-DE X 106004542 106004542 single base substitution G A intron_variant ESCA-CN X 105970336 105970336 single base substitution C A intron_variant ESCA-CN X 105970336 105970336 single base substitution C A missense_variant L65M 193C>A ESCA-CN X 105970603 105970603 single base substitution G A intron_variant ESCA-CN X 105970603 105970603 single base substitution G A missense_variant E154K 460G>A ESCA-CN X 106039135 106039135 single base substitution T C 3_prime_UTR_variant GBM-US X 105970562 105970562 single base substitution C T intron_variant GBM-US X 105970562 105970562 single base substitution C T missense_variant A140V 419C>T GBM-US X 106038858 106038858 single base substitution A G missense_variant D375G 1124A>G GBM-US X 106038858 106038858 single base substitution A G missense_variant D401G 1202A>G KIRC-US X 105970574 105970574 single base substitution T C intron_variant KIRC-US X 105970574 105970574 single base substitution T C missense_variant V144A 431T>C KIRC-US X 105970595 105970595 deletion of <=200bp C - frameshift_variant T151 KIRC-US X 105970595 105970595 deletion of <=200bp C - intron_variant KIRP-US X 106034465 106034465 single base substitution G A downstream_gene_variant KIRP-US X 106034465 106034465 single base substitution G A splice_donor_variant LGG-US X 105937389 105937389 single base substitution G A missense_variant V26I 76G>A LGG-US X 105937389 105937389 single base substitution G A missense_variant V53I 157G>A LICA-CN X 105970310 105970310 single base substitution C G intron_variant LICA-CN X 105970310 105970310 single base substitution C G missense_variant T56R 167C>G LICA-CN X 105970419 105970419 single base substitution G T intron_variant LICA-CN X 105970419 105970419 single base substitution G T synonymous_variant A92A 276G>T LICA-CN X 106034421 106034421 single base substitution G T downstream_gene_variant LICA-CN X 106034421 106034421 single base substitution G T missense_variant Q344H 1032G>T LICA-CN X 106034421 106034421 single base substitution G T missense_variant Q370H 1110G>T LICA-FR X 105949410 105949410 single base substitution G C intron_variant LICA-FR X 105956431 105956431 deletion of <=200bp A - intron_variant LICA-FR X 105983056 105983056 single base substitution C T intron_variant LICA-FR X 105997823 105997824 deletion of <=200bp TC - intron_variant LICA-FR X 106006775 106006775 single base substitution C G intron_variant LICA-FR X 106010343 106010343 single base substitution C A intron_variant LICA-FR X 106015433 106015433 single base substitution A G intron_variant LICA-FR X 106030465 106030465 single base substitution C A intron_variant LICA-FR X 106031418 106031418 single base substitution A G intron_variant LICA-FR X 106033476 106033476 single base substitution G A downstream_gene_variant LICA-FR X 106033476 106033476 single base substitution G A missense_variant M290I 870G>A LICA-FR X 106033476 106033476 single base substitution G A missense_variant M316I 948G>A LICA-FR X 106034315 106034315 single base substitution C A downstream_gene_variant LICA-FR X 106034315 106034315 single base substitution C A stop_gained S309* 926C>A LICA-FR X 106034315 106034315 single base substitution C A stop_gained S335* 1004C>A LIHC-US X 105970375 105970375 single base substitution G T intron_variant LIHC-US X 105970375 105970375 single base substitution G T stop_gained E78* 232G>T LINC-JP X 105933889 105933889 single base substitution A G upstream_gene_variant LINC-JP X 105943089 105943089 single base substitution G A intron_variant LINC-JP X 105956431 105956431 deletion of <=200bp A - intron_variant LINC-JP X 105963839 105963839 single base substitution T C intron_variant LINC-JP X 105970218 105970218 single base substitution C T intron_variant LINC-JP X 105970218 105970218 single base substitution C T synonymous_variant F25F 75C>T LINC-JP X 105970804 105970804 deletion of <=200bp A - intron_variant LINC-JP X 105979098 105979098 single base substitution C A intron_variant LINC-JP X 105989024 105989024 single base substitution G T intron_variant LINC-JP X 106005269 106005269 single base substitution A G intron_variant LINC-JP X 106033502 106033502 single base substitution T C downstream_gene_variant LINC-JP X 106033502 106033502 single base substitution T C missense_variant L299S 896T>C LINC-JP X 106033502 106033502 single base substitution T C missense_variant L325S 974T>C LIRI-JP X 105932604 105932604 single base substitution A G upstream_gene_variant LIRI-JP X 105936075 105936075 single base substitution G C upstream_gene_variant LIRI-JP X 105936374 105936374 single base substitution A C upstream_gene_variant LIRI-JP X 105939251 105939251 single base substitution G T intron_variant LIRI-JP X 105939500 105939500 single base substitution G T intron_variant LIRI-JP X 105942596 105942596 single base substitution A G intron_variant LIRI-JP X 105942628 105942628 single base substitution C G intron_variant LIRI-JP X 105945274 105945274 single base substitution A G intron_variant LIRI-JP X 105947587 105947587 single base substitution C T intron_variant LIRI-JP X 105947793 105947793 single base substitution A G intron_variant LIRI-JP X 105949983 105949983 single base substitution G A intron_variant LIRI-JP X 105950268 105950268 single base substitution T C intron_variant LIRI-JP X 105959577 105959577 single base substitution A T intron_variant LIRI-JP X 105961300 105961300 single base substitution T C intron_variant LIRI-JP X 105961624 105961624 single base substitution G T intron_variant LIRI-JP X 105961832 105961832 single base substitution A G intron_variant LIRI-JP X 105964674 105964674 single base substitution T C intron_variant LIRI-JP X 105965858 105965858 single base substitution C A intron_variant LIRI-JP X 105965858 105965858 single base substitution C A upstream_gene_variant LIRI-JP X 105966106 105966106 single base substitution A G intron_variant LIRI-JP X 105966106 105966106 single base substitution A G upstream_gene_variant LIRI-JP X 105969252 105969252 single base substitution C T intron_variant LIRI-JP X 105969252 105969252 single base substitution C T upstream_gene_variant LIRI-JP X 105970563 105970563 single base substitution G A intron_variant LIRI-JP X 105970563 105970563 single base substitution G A synonymous_variant A140A 420G>A LIRI-JP X 105970712 105970712 single base substitution T C intron_variant LIRI-JP X 105972459 105972459 single base substitution T C intron_variant LIRI-JP X 105974150 105974150 single base substitution T C intron_variant LIRI-JP X 105975731 105975731 deletion of <=200bp A - intron_variant LIRI-JP X 105980050 105980050 single base substitution A G intron_variant LIRI-JP X 105986377 105986377 single base substitution G T intron_variant LIRI-JP X 105997209 105997209 single base substitution A G intron_variant LIRI-JP X 105998173 105998173 single base substitution A G intron_variant LIRI-JP X 106003785 106003785 single base substitution T C intron_variant LIRI-JP X 106004249 106004249 single base substitution G T intron_variant LIRI-JP X 106005289 106005289 single base substitution G T intron_variant LIRI-JP X 106008084 106008084 single base substitution A G intron_variant LIRI-JP X 106009601 106009601 single base substitution T C intron_variant LIRI-JP X 106009795 106009795 single base substitution G T intron_variant LIRI-JP X 106010415 106010415 single base substitution T A intron_variant LIRI-JP X 106011446 106011446 single base substitution G C intron_variant LIRI-JP X 106012678 106012678 single base substitution G T intron_variant LIRI-JP X 106019225 106019225 single base substitution C T intron_variant LIRI-JP X 106021612 106021612 single base substitution A G intron_variant LIRI-JP X 106025926 106025926 single base substitution A T intron_variant LIRI-JP X 106028343 106028343 single base substitution C T missense_variant R208C 622C>T LIRI-JP X 106028343 106028343 single base substitution C T missense_variant R235C 703C>T LIRI-JP X 106028343 106028343 single base substitution C T missense_variant R261C 781C>T LIRI-JP X 106029679 106029679 single base substitution C A intron_variant LIRI-JP X 106030585 106030585 single base substitution A G intron_variant LIRI-JP X 106043706 106043706 single base substitution A G downstream_gene_variant LUSC-KR X 105933991 105933991 single base substitution G T upstream_gene_variant LUSC-KR X 105938490 105938490 single base substitution C T intron_variant LUSC-KR X 105940457 105940457 single base substitution G A intron_variant LUSC-KR X 105941587 105941587 single base substitution G A intron_variant LUSC-KR X 105952124 105952124 single base substitution T A intron_variant LUSC-KR X 105956395 105956395 single base substitution G T intron_variant LUSC-KR X 105956926 105956926 single base substitution A C intron_variant LUSC-KR X 105958240 105958240 single base substitution A G intron_variant LUSC-KR X 105971856 105971856 single base substitution C T intron_variant LUSC-KR X 105972737 105972737 single base substitution T C intron_variant LUSC-KR X 105986697 105986697 single base substitution G A intron_variant LUSC-KR X 105991164 105991164 single base substitution C G intron_variant LUSC-KR X 105994441 105994441 single base substitution C A intron_variant LUSC-KR X 105996501 105996501 single base substitution G A intron_variant LUSC-KR X 105997367 105997367 single base substitution T A intron_variant LUSC-KR X 105997710 105997710 single base substitution C G intron_variant LUSC-KR X 106001139 106001139 single base substitution G T intron_variant LUSC-KR X 106028911 106028911 single base substitution G A intron_variant LUSC-KR X 106040116 106040116 single base substitution G T 3_prime_UTR_variant LUSC-KR X 106040713 106040713 single base substitution G T downstream_gene_variant LUSC-KR X 106043671 106043671 single base substitution A T downstream_gene_variant LUSC-US X 105970510 105970510 single base substitution G A intron_variant LUSC-US X 105970510 105970510 single base substitution G A missense_variant G123S 367G>A LUSC-US X 106031167 106031167 single base substitution A G missense_variant D222G 665A>G LUSC-US X 106031167 106031167 single base substitution A G missense_variant D249G 746A>G LUSC-US X 106031167 106031167 single base substitution A G missense_variant D275G 824A>G MALY-DE X 105932203 105932203 single base substitution T A upstream_gene_variant MALY-DE X 105932247 105932247 single base substitution T C upstream_gene_variant MALY-DE X 105938277 105938277 single base substitution A C intron_variant MALY-DE X 105939355 105939355 single base substitution G A intron_variant MALY-DE X 105939525 105939525 single base substitution T A intron_variant MALY-DE X 105941157 105941157 single base substitution C T intron_variant MALY-DE X 105943182 105943182 single base substitution C A intron_variant MALY-DE X 105948527 105948527 single base substitution G A intron_variant MALY-DE X 105948664 105948664 deletion of <=200bp T - intron_variant MALY-DE X 105955005 105955005 single base substitution C T intron_variant MALY-DE X 105956082 105956082 single base substitution T A intron_variant MALY-DE X 105956466 105956466 single base substitution C T intron_variant MALY-DE X 105956515 105956515 single base substitution G T intron_variant MALY-DE X 105958515 105958515 single base substitution T A intron_variant MALY-DE X 105959779 105959779 single base substitution T G intron_variant MALY-DE X 105960987 105960987 single base substitution G A intron_variant MALY-DE X 105961978 105961978 insertion of <=200bp - T intron_variant MALY-DE X 105964227 105964227 single base substitution A T intron_variant MALY-DE X 105967846 105967846 single base substitution T G intron_variant MALY-DE X 105967846 105967846 single base substitution T G upstream_gene_variant MALY-DE X 105968839 105968839 single base substitution G A intron_variant MALY-DE X 105968839 105968839 single base substitution G A upstream_gene_variant MALY-DE X 105970873 105970873 single base substitution T A intron_variant MALY-DE X 105975744 105975744 single base substitution G A intron_variant MALY-DE X 105975911 105975911 single base substitution T G intron_variant MALY-DE X 105977766 105977766 single base substitution T C intron_variant MALY-DE X 105979614 105979614 single base substitution A G intron_variant MALY-DE X 105980420 105980420 single base substitution G T intron_variant MALY-DE X 105980706 105980706 single base substitution C A intron_variant MALY-DE X 105984438 105984438 single base substitution T A intron_variant MALY-DE X 105987973 105987973 single base substitution G A intron_variant MALY-DE X 105988319 105988319 single base substitution T C intron_variant MALY-DE X 105989056 105989056 single base substitution A C intron_variant MALY-DE X 105990257 105990257 single base substitution A C intron_variant MALY-DE X 105993374 105993374 single base substitution C T intron_variant MALY-DE X 106001734 106001734 single base substitution G A intron_variant MALY-DE X 106002878 106002878 single base substitution C A intron_variant MALY-DE X 106006729 106006729 single base substitution C A intron_variant MALY-DE X 106008849 106008849 single base substitution G T intron_variant MALY-DE X 106009395 106009395 single base substitution G A intron_variant MALY-DE X 106015672 106015672 single base substitution T A intron_variant MALY-DE X 106016516 106016516 single base substitution G T intron_variant MALY-DE X 106016745 106016745 insertion of <=200bp - A intron_variant MALY-DE X 106021323 106021323 single base substitution A G intron_variant MALY-DE X 106022579 106022580 deletion of <=200bp GT - intron_variant MALY-DE X 106024099 106024099 single base substitution T C intron_variant MALY-DE X 106026203 106026203 single base substitution A G intron_variant MALY-DE X 106027048 106027048 single base substitution G T intron_variant MALY-DE X 106028631 106028631 single base substitution T A intron_variant MALY-DE X 106029704 106029704 single base substitution T C intron_variant MALY-DE X 106033038 106033038 single base substitution G T intron_variant MALY-DE X 106035494 106035494 single base substitution G A downstream_gene_variant MALY-DE X 106035494 106035494 single base substitution G A intron_variant MALY-DE X 106037365 106037365 single base substitution C T downstream_gene_variant MALY-DE X 106037365 106037365 single base substitution C T intron_variant MALY-DE X 106037433 106037433 single base substitution C A downstream_gene_variant MALY-DE X 106037433 106037433 single base substitution C A intron_variant MALY-DE X 106042576 106042576 single base substitution G T downstream_gene_variant MALY-DE X 106042845 106042845 single base substitution A C downstream_gene_variant MALY-DE X 106043638 106043639 deletion of <=200bp GT - downstream_gene_variant MELA-AU X 105932052 105932052 single base substitution G A upstream_gene_variant MELA-AU X 105932129 105932129 single base substitution G A upstream_gene_variant MELA-AU X 105932381 105932381 single base substitution G A upstream_gene_variant MELA-AU X 105932609 105932609 single base substitution C T upstream_gene_variant MELA-AU X 105932669 105932669 single base substitution C T upstream_gene_variant MELA-AU X 105932815 105932815 single base substitution G A upstream_gene_variant MELA-AU X 105932860 105932860 single base substitution C T upstream_gene_variant MELA-AU X 105933300 105933300 single base substitution C T upstream_gene_variant MELA-AU X 105933431 105933431 single base substitution T G upstream_gene_variant MELA-AU X 105933470 105933470 single base substitution C T upstream_gene_variant MELA-AU X 105933566 105933566 single base substitution C T upstream_gene_variant MELA-AU X 105934416 105934416 single base substitution C T upstream_gene_variant MELA-AU X 105934748 105934748 single base substitution C T upstream_gene_variant MELA-AU X 105934935 105934935 single base substitution G A upstream_gene_variant MELA-AU X 105935061 105935061 single base substitution C T upstream_gene_variant MELA-AU X 105935181 105935181 single base substitution C T upstream_gene_variant MELA-AU X 105935260 105935261 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 105935312 105935312 single base substitution G A upstream_gene_variant MELA-AU X 105936481 105936481 single base substitution G T upstream_gene_variant MELA-AU X 105936504 105936504 single base substitution G A upstream_gene_variant MELA-AU X 105936509 105936509 single base substitution G A upstream_gene_variant MELA-AU X 105936544 105936544 single base substitution G A upstream_gene_variant MELA-AU X 105936570 105936570 single base substitution C T upstream_gene_variant MELA-AU X 105937046 105937046 single base substitution G A 5_prime_UTR_variant MELA-AU X 105937046 105937046 single base substitution G A upstream_gene_variant MELA-AU X 105937843 105937843 single base substitution G A intron_variant MELA-AU X 105937902 105937902 single base substitution C T intron_variant MELA-AU X 105937978 105937978 single base substitution C T intron_variant MELA-AU X 105938146 105938147 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 105939026 105939026 single base substitution C T intron_variant MELA-AU X 105939597 105939598 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 105939658 105939658 single base substitution G A intron_variant MELA-AU X 105939739 105939739 single base substitution C T intron_variant MELA-AU X 105939924 105939924 single base substitution C T intron_variant MELA-AU X 105940106 105940106 single base substitution C T intron_variant MELA-AU X 105940268 105940268 single base substitution G A intron_variant MELA-AU X 105940411 105940411 single base substitution G A intron_variant MELA-AU X 105940563 105940563 single base substitution G A intron_variant MELA-AU X 105941081 105941081 single base substitution C T intron_variant MELA-AU X 105941096 105941096 single base substitution G A intron_variant MELA-AU X 105941203 105941203 single base substitution G T intron_variant MELA-AU X 105941252 105941252 single base substitution G A intron_variant MELA-AU X 105941513 105941513 single base substitution G T intron_variant MELA-AU X 105941617 105941617 single base substitution C T intron_variant MELA-AU X 105941636 105941636 single base substitution G A intron_variant MELA-AU X 105941941 105941941 single base substitution C T intron_variant MELA-AU X 105942102 105942102 single base substitution C T intron_variant MELA-AU X 105942320 105942320 single base substitution C T intron_variant MELA-AU X 105942423 105942423 single base substitution G A intron_variant MELA-AU X 105942977 105942977 single base substitution C T intron_variant MELA-AU X 105943042 105943042 single base substitution C T intron_variant MELA-AU X 105943088 105943088 single base substitution C T intron_variant MELA-AU X 105944108 105944108 single base substitution C T intron_variant MELA-AU X 105944410 105944410 single base substitution C T intron_variant MELA-AU X 105944440 105944440 single base substitution C T intron_variant MELA-AU X 105945228 105945228 single base substitution C T intron_variant MELA-AU X 105945334 105945334 single base substitution C T intron_variant MELA-AU X 105945727 105945727 single base substitution C T intron_variant MELA-AU X 105945780 105945780 single base substitution T C intron_variant MELA-AU X 105945800 105945800 single base substitution C T intron_variant MELA-AU X 105945858 105945858 single base substitution C T intron_variant MELA-AU X 105946832 105946832 single base substitution C T intron_variant MELA-AU X 105946914 105946914 single base substitution T G intron_variant MELA-AU X 105947011 105947011 single base substitution G A intron_variant MELA-AU X 105947065 105947065 single base substitution C T intron_variant MELA-AU X 105947254 105947254 single base substitution C T intron_variant MELA-AU X 105947287 105947288 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU X 105947577 105947577 single base substitution G A intron_variant MELA-AU X 105947717 105947717 single base substitution G A intron_variant MELA-AU X 105947882 105947882 single base substitution A C intron_variant MELA-AU X 105948275 105948275 single base substitution G A intron_variant MELA-AU X 105949838 105949838 single base substitution C T intron_variant MELA-AU X 105949876 105949876 single base substitution G A intron_variant MELA-AU X 105950227 105950227 single base substitution T A intron_variant MELA-AU X 105950399 105950399 single base substitution A T intron_variant MELA-AU X 105950410 105950411 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 105950429 105950429 single base substitution C T intron_variant MELA-AU X 105950851 105950851 single base substitution G A intron_variant MELA-AU X 105951623 105951623 single base substitution C T intron_variant MELA-AU X 105951778 105951778 single base substitution G A intron_variant MELA-AU X 105952254 105952254 single base substitution G A intron_variant MELA-AU X 105952299 105952299 single base substitution A T intron_variant MELA-AU X 105952373 105952373 single base substitution C T intron_variant MELA-AU X 105952419 105952419 single base substitution C T intron_variant MELA-AU X 105952859 105952859 single base substitution C T intron_variant MELA-AU X 105952947 105952947 single base substitution C T intron_variant MELA-AU X 105953325 105953325 single base substitution G A intron_variant MELA-AU X 105953983 105953983 single base substitution A C intron_variant MELA-AU X 105954203 105954203 single base substitution C T intron_variant MELA-AU X 105954349 105954349 single base substitution C T intron_variant MELA-AU X 105954406 105954406 single base substitution C T intron_variant MELA-AU X 105954415 105954415 single base substitution C T intron_variant MELA-AU X 105954700 105954700 single base substitution C T intron_variant MELA-AU X 105954883 105954883 single base substitution C T intron_variant MELA-AU X 105955746 105955746 single base substitution C T intron_variant MELA-AU X 105956089 105956089 single base substitution G A intron_variant MELA-AU X 105956387 105956387 single base substitution G A intron_variant MELA-AU X 105956728 105956729 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU X 105956908 105956908 single base substitution C T intron_variant MELA-AU X 105957166 105957166 single base substitution G A intron_variant MELA-AU X 105957687 105957687 single base substitution C T intron_variant MELA-AU X 105957754 105957754 single base substitution G A intron_variant MELA-AU X 105958061 105958061 single base substitution C T intron_variant MELA-AU X 105958143 105958143 single base substitution C T intron_variant MELA-AU X 105958190 105958190 single base substitution G A intron_variant MELA-AU X 105958239 105958239 single base substitution G A intron_variant MELA-AU X 105958488 105958488 single base substitution G A intron_variant MELA-AU X 105958799 105958799 single base substitution G A intron_variant MELA-AU X 105958915 105958915 single base substitution C T intron_variant MELA-AU X 105959040 105959040 single base substitution G A intron_variant MELA-AU X 105959356 105959356 single base substitution C T intron_variant MELA-AU X 105959417 105959417 single base substitution C T intron_variant MELA-AU X 105959418 105959418 single base substitution C T intron_variant MELA-AU X 105959439 105959439 single base substitution C T intron_variant MELA-AU X 105960180 105960180 single base substitution C T intron_variant MELA-AU X 105960340 105960340 single base substitution G A intron_variant MELA-AU X 105960868 105960868 single base substitution T A intron_variant MELA-AU X 105961313 105961313 single base substitution G A intron_variant MELA-AU X 105962893 105962893 single base substitution A G intron_variant MELA-AU X 105963634 105963634 single base substitution G A intron_variant MELA-AU X 105964530 105964530 single base substitution C T intron_variant MELA-AU X 105965098 105965098 single base substitution C T intron_variant MELA-AU X 105965098 105965098 single base substitution C T upstream_gene_variant MELA-AU X 105965137 105965137 single base substitution G T intron_variant MELA-AU X 105965137 105965137 single base substitution G T upstream_gene_variant MELA-AU X 105965225 105965225 single base substitution G A intron_variant MELA-AU X 105965225 105965225 single base substitution G A upstream_gene_variant MELA-AU X 105965366 105965366 single base substitution G A intron_variant MELA-AU X 105965366 105965366 single base substitution G A upstream_gene_variant MELA-AU X 105965383 105965383 single base substitution G A intron_variant MELA-AU X 105965383 105965383 single base substitution G A upstream_gene_variant MELA-AU X 105965605 105965605 single base substitution G A intron_variant MELA-AU X 105965605 105965605 single base substitution G A upstream_gene_variant MELA-AU X 105965727 105965727 single base substitution T C intron_variant MELA-AU X 105965727 105965727 single base substitution T C upstream_gene_variant MELA-AU X 105965990 105965990 single base substitution C T intron_variant MELA-AU X 105965990 105965990 single base substitution C T upstream_gene_variant MELA-AU X 105966307 105966307 single base substitution C T intron_variant MELA-AU X 105966307 105966307 single base substitution C T upstream_gene_variant MELA-AU X 105966382 105966382 single base substitution G A intron_variant MELA-AU X 105966382 105966382 single base substitution G A upstream_gene_variant MELA-AU X 105966711 105966711 single base substitution C T intron_variant MELA-AU X 105966711 105966711 single base substitution C T upstream_gene_variant MELA-AU X 105967251 105967251 single base substitution C T intron_variant MELA-AU X 105967251 105967251 single base substitution C T upstream_gene_variant MELA-AU X 105967566 105967566 single base substitution G A intron_variant MELA-AU X 105967566 105967566 single base substitution G A upstream_gene_variant MELA-AU X 105967606 105967606 single base substitution C T intron_variant MELA-AU X 105967606 105967606 single base substitution C T upstream_gene_variant MELA-AU X 105967702 105967702 single base substitution C T intron_variant MELA-AU X 105967702 105967702 single base substitution C T upstream_gene_variant MELA-AU X 105968225 105968225 single base substitution C T intron_variant MELA-AU X 105968225 105968225 single base substitution C T upstream_gene_variant MELA-AU X 105968402 105968402 single base substitution C T intron_variant MELA-AU X 105968402 105968402 single base substitution C T upstream_gene_variant MELA-AU X 105970146 105970146 single base substitution G A intron_variant MELA-AU X 105970146 105970146 single base substitution G A start_lost M1I 3G>A MELA-AU X 105970690 105970690 single base substitution C T intron_variant MELA-AU X 105971262 105971262 single base substitution C A intron_variant MELA-AU X 105971273 105971273 single base substitution A G intron_variant MELA-AU X 105971469 105971469 single base substitution G A intron_variant MELA-AU X 105971932 105971932 single base substitution C T intron_variant MELA-AU X 105972167 105972167 single base substitution G C intron_variant MELA-AU X 105974425 105974425 single base substitution G A intron_variant MELA-AU X 105974465 105974465 single base substitution G A intron_variant MELA-AU X 105974590 105974590 single base substitution C A intron_variant MELA-AU X 105974651 105974651 single base substitution C A intron_variant MELA-AU X 105974920 105974920 single base substitution A T intron_variant MELA-AU X 105975876 105975876 single base substitution G A intron_variant MELA-AU X 105976027 105976027 single base substitution C T intron_variant MELA-AU X 105976128 105976128 single base substitution G A intron_variant MELA-AU X 105976164 105976164 single base substitution G A intron_variant MELA-AU X 105976488 105976488 single base substitution G A intron_variant MELA-AU X 105976552 105976552 single base substitution C T intron_variant MELA-AU X 105977056 105977056 single base substitution G A intron_variant MELA-AU X 105977406 105977406 single base substitution C T intron_variant MELA-AU X 105977919 105977919 single base substitution C T intron_variant MELA-AU X 105978287 105978287 single base substitution C T intron_variant MELA-AU X 105978722 105978722 single base substitution G A intron_variant MELA-AU X 105978810 105978810 single base substitution C T intron_variant MELA-AU X 105978824 105978824 single base substitution A G intron_variant MELA-AU X 105979089 105979089 single base substitution C G intron_variant MELA-AU X 105979105 105979105 single base substitution C T intron_variant MELA-AU X 105979170 105979171 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 105979202 105979202 single base substitution C T intron_variant MELA-AU X 105979335 105979335 single base substitution C T intron_variant MELA-AU X 105979375 105979375 single base substitution G A intron_variant MELA-AU X 105979408 105979408 single base substitution C T intron_variant MELA-AU X 105979524 105979524 single base substitution C T intron_variant MELA-AU X 105979646 105979646 single base substitution G A intron_variant MELA-AU X 105979825 105979825 single base substitution C T intron_variant MELA-AU X 105979958 105979958 single base substitution C T intron_variant MELA-AU X 105980282 105980282 single base substitution C T intron_variant MELA-AU X 105980332 105980332 single base substitution T C intron_variant MELA-AU X 105981689 105981689 single base substitution G A intron_variant MELA-AU X 105982359 105982359 single base substitution C T intron_variant MELA-AU X 105982481 105982481 single base substitution C T intron_variant MELA-AU X 105982648 105982648 single base substitution C A intron_variant MELA-AU X 105982727 105982727 single base substitution A G intron_variant MELA-AU X 105982761 105982761 single base substitution G A intron_variant MELA-AU X 105983003 105983003 single base substitution G A intron_variant MELA-AU X 105983188 105983188 single base substitution G A intron_variant MELA-AU X 105983254 105983254 single base substitution C T intron_variant MELA-AU X 105983585 105983585 single base substitution G A intron_variant MELA-AU X 105983834 105983834 single base substitution C T intron_variant MELA-AU X 105983866 105983866 single base substitution C T intron_variant MELA-AU X 105984146 105984146 single base substitution T C intron_variant MELA-AU X 105984449 105984449 single base substitution G A intron_variant MELA-AU X 105984511 105984511 single base substitution C T intron_variant MELA-AU X 105985056 105985056 single base substitution C T intron_variant MELA-AU X 105985387 105985387 single base substitution G A intron_variant MELA-AU X 105985414 105985414 single base substitution G A intron_variant MELA-AU X 105985775 105985775 single base substitution G A intron_variant MELA-AU X 105985794 105985794 single base substitution G A intron_variant MELA-AU X 105986091 105986091 single base substitution C T intron_variant MELA-AU X 105986211 105986211 single base substitution G A intron_variant MELA-AU X 105986408 105986408 single base substitution T C intron_variant MELA-AU X 105986591 105986591 single base substitution G A intron_variant MELA-AU X 105987345 105987345 single base substitution G A intron_variant MELA-AU X 105987493 105987493 single base substitution C T intron_variant MELA-AU X 105987885 105987885 single base substitution T G intron_variant MELA-AU X 105987905 105987905 single base substitution G A intron_variant MELA-AU X 105987989 105987989 single base substitution G A intron_variant MELA-AU X 105988708 105988708 single base substitution G A intron_variant MELA-AU X 105989009 105989009 single base substitution G A intron_variant MELA-AU X 105989147 105989147 single base substitution C T intron_variant MELA-AU X 105989282 105989282 single base substitution G A intron_variant MELA-AU X 105989358 105989358 single base substitution C T intron_variant MELA-AU X 105989394 105989394 single base substitution G A intron_variant MELA-AU X 105989638 105989638 single base substitution G A intron_variant MELA-AU X 105989915 105989915 single base substitution T C intron_variant MELA-AU X 105989921 105989921 single base substitution C T intron_variant MELA-AU X 105990046 105990046 single base substitution G A intron_variant MELA-AU X 105990140 105990140 single base substitution G A intron_variant MELA-AU X 105990356 105990356 single base substitution T G intron_variant MELA-AU X 105990367 105990367 single base substitution C T intron_variant MELA-AU X 105990447 105990447 single base substitution C T intron_variant MELA-AU X 105990697 105990697 single base substitution G A intron_variant MELA-AU X 105990854 105990854 single base substitution G A intron_variant MELA-AU X 105990995 105991007 deletion of <=200bp TCAGTTTGAAATG - intron_variant MELA-AU X 105991029 105991029 single base substitution C T intron_variant MELA-AU X 105991231 105991231 single base substitution G A intron_variant MELA-AU X 105991376 105991376 single base substitution G A intron_variant MELA-AU X 105991533 105991533 single base substitution C T intron_variant MELA-AU X 105991597 105991597 single base substitution C G intron_variant MELA-AU X 105991665 105991665 single base substitution G A intron_variant MELA-AU X 105991685 105991685 single base substitution C T intron_variant MELA-AU X 105991851 105991851 single base substitution A G intron_variant MELA-AU X 105991935 105991935 single base substitution G A intron_variant MELA-AU X 105992216 105992216 single base substitution C T intron_variant MELA-AU X 105992264 105992264 single base substitution G A intron_variant MELA-AU X 105992400 105992400 single base substitution C T intron_variant MELA-AU X 105992442 105992442 single base substitution G A intron_variant MELA-AU X 105992629 105992629 single base substitution G A intron_variant MELA-AU X 105992728 105992728 single base substitution G A intron_variant MELA-AU X 105992752 105992752 single base substitution G A intron_variant MELA-AU X 105993379 105993379 single base substitution C T intron_variant MELA-AU X 105993525 105993525 single base substitution C T intron_variant MELA-AU X 105993609 105993609 single base substitution C T intron_variant MELA-AU X 105993687 105993687 single base substitution G A intron_variant MELA-AU X 105993805 105993805 single base substitution G A intron_variant MELA-AU X 105993976 105993976 single base substitution A G intron_variant MELA-AU X 105994007 105994007 single base substitution A G intron_variant MELA-AU X 105994038 105994038 single base substitution G A intron_variant MELA-AU X 105994099 105994099 single base substitution C T intron_variant MELA-AU X 105994126 105994126 single base substitution G A intron_variant MELA-AU X 105994353 105994353 single base substitution C T intron_variant MELA-AU X 105994407 105994407 single base substitution G A intron_variant MELA-AU X 105994418 105994418 single base substitution G A intron_variant MELA-AU X 105994437 105994437 single base substitution C T intron_variant MELA-AU X 105994503 105994503 single base substitution G A intron_variant MELA-AU X 105994607 105994607 single base substitution G A intron_variant MELA-AU X 105994797 105994797 single base substitution G A intron_variant MELA-AU X 105994920 105994920 single base substitution A G intron_variant MELA-AU X 105994957 105994957 single base substitution C T intron_variant MELA-AU X 105995205 105995205 single base substitution G T intron_variant MELA-AU X 105995299 105995299 single base substitution C T intron_variant MELA-AU X 105995531 105995531 single base substitution G A intron_variant MELA-AU X 105995558 105995558 single base substitution C T intron_variant MELA-AU X 105995559 105995559 single base substitution C T intron_variant MELA-AU X 105995583 105995583 single base substitution G A intron_variant MELA-AU X 105996047 105996047 single base substitution G A intron_variant MELA-AU X 105996274 105996274 single base substitution G A intron_variant MELA-AU X 105996434 105996434 single base substitution G A intron_variant MELA-AU X 105996654 105996654 single base substitution A C intron_variant MELA-AU X 105996666 105996666 single base substitution G A intron_variant MELA-AU X 105996997 105996997 single base substitution C T intron_variant MELA-AU X 105996998 105996998 single base substitution C T intron_variant MELA-AU X 105997074 105997074 single base substitution A T intron_variant MELA-AU X 105997241 105997241 single base substitution C T intron_variant MELA-AU X 105997356 105997356 single base substitution C T intron_variant MELA-AU X 105997689 105997689 single base substitution C T intron_variant MELA-AU X 105997729 105997729 single base substitution G A intron_variant MELA-AU X 105997837 105997837 single base substitution G A intron_variant MELA-AU X 105998127 105998127 single base substitution G A intron_variant MELA-AU X 105998295 105998295 single base substitution G A intron_variant MELA-AU X 105998455 105998455 single base substitution G A intron_variant MELA-AU X 105998491 105998491 single base substitution G T intron_variant MELA-AU X 105998881 105998881 single base substitution G A intron_variant MELA-AU X 105998945 105998945 single base substitution G A intron_variant MELA-AU X 105998984 105998984 single base substitution G A intron_variant MELA-AU X 105999479 105999480 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU X 105999480 105999480 single base substitution T G intron_variant MELA-AU X 105999495 105999495 single base substitution G A intron_variant MELA-AU X 105999510 105999510 single base substitution T C intron_variant MELA-AU X 106001095 106001095 single base substitution C T intron_variant MELA-AU X 106001126 106001126 single base substitution C T intron_variant MELA-AU X 106001229 106001229 single base substitution C T intron_variant MELA-AU X 106001240 106001240 single base substitution G A intron_variant MELA-AU X 106001544 106001544 single base substitution G A intron_variant MELA-AU X 106001662 106001662 single base substitution T A intron_variant MELA-AU X 106001712 106001712 single base substitution C T intron_variant MELA-AU X 106001737 106001737 single base substitution G A intron_variant MELA-AU X 106001795 106001795 single base substitution G A intron_variant MELA-AU X 106002019 106002019 single base substitution G A intron_variant MELA-AU X 106002030 106002030 single base substitution T A intron_variant MELA-AU X 106002237 106002237 single base substitution A T intron_variant MELA-AU X 106002526 106002526 single base substitution G A intron_variant MELA-AU X 106002631 106002631 single base substitution T C intron_variant MELA-AU X 106002681 106002681 single base substitution G A intron_variant MELA-AU X 106002748 106002748 single base substitution G A intron_variant MELA-AU X 106002771 106002771 single base substitution C T intron_variant MELA-AU X 106002797 106002797 single base substitution A T intron_variant MELA-AU X 106003111 106003111 single base substitution G A intron_variant MELA-AU X 106003212 106003212 single base substitution G A intron_variant MELA-AU X 106003325 106003325 single base substitution A T intron_variant MELA-AU X 106003347 106003347 single base substitution G A intron_variant MELA-AU X 106003743 106003743 single base substitution G A intron_variant MELA-AU X 106003772 106003772 single base substitution G A intron_variant MELA-AU X 106003906 106003906 single base substitution G A intron_variant MELA-AU X 106003922 106003922 single base substitution C T intron_variant MELA-AU X 106004090 106004090 single base substitution G A intron_variant MELA-AU X 106004091 106004091 single base substitution G A intron_variant MELA-AU X 106004271 106004271 single base substitution C T intron_variant MELA-AU X 106004364 106004364 single base substitution A T intron_variant MELA-AU X 106004837 106004837 single base substitution G A intron_variant MELA-AU X 106005055 106005055 single base substitution C T intron_variant MELA-AU X 106005487 106005487 single base substitution C T intron_variant MELA-AU X 106005742 106005742 single base substitution C T intron_variant MELA-AU X 106006035 106006035 single base substitution A G intron_variant MELA-AU X 106006163 106006163 single base substitution G A intron_variant MELA-AU X 106006184 106006184 single base substitution C T intron_variant MELA-AU X 106006751 106006751 single base substitution C T intron_variant MELA-AU X 106006800 106006800 single base substitution G A intron_variant MELA-AU X 106007494 106007494 single base substitution C T intron_variant MELA-AU X 106007554 106007555 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU X 106007717 106007717 single base substitution T C intron_variant MELA-AU X 106008042 106008042 single base substitution C T intron_variant MELA-AU X 106008453 106008453 single base substitution G A intron_variant MELA-AU X 106008906 106008906 single base substitution G A intron_variant MELA-AU X 106009007 106009007 single base substitution C T intron_variant MELA-AU X 106009091 106009091 single base substitution C T intron_variant MELA-AU X 106009231 106009231 single base substitution G A intron_variant MELA-AU X 106009253 106009253 single base substitution C T intron_variant MELA-AU X 106009766 106009766 single base substitution C T intron_variant MELA-AU X 106009910 106009910 single base substitution C T intron_variant MELA-AU X 106010140 106010140 single base substitution A T intron_variant MELA-AU X 106010205 106010205 single base substitution C T intron_variant MELA-AU X 106010245 106010245 single base substitution C T intron_variant MELA-AU X 106010453 106010453 single base substitution T C intron_variant MELA-AU X 106010592 106010592 single base substitution C T intron_variant MELA-AU X 106010908 106010908 single base substitution C T intron_variant MELA-AU X 106010938 106010938 single base substitution C T intron_variant MELA-AU X 106011387 106011387 single base substitution G A intron_variant MELA-AU X 106011471 106011471 single base substitution G A intron_variant MELA-AU X 106011476 106011476 single base substitution G A intron_variant MELA-AU X 106011553 106011553 single base substitution C T intron_variant MELA-AU X 106011619 106011619 single base substitution C T intron_variant MELA-AU X 106011907 106011907 single base substitution C T intron_variant MELA-AU X 106012370 106012370 single base substitution C T intron_variant MELA-AU X 106012380 106012380 single base substitution G A intron_variant MELA-AU X 106012919 106012919 single base substitution C T intron_variant MELA-AU X 106012935 106012935 single base substitution C T intron_variant MELA-AU X 106012991 106012991 single base substitution T A intron_variant MELA-AU X 106013093 106013093 single base substitution C T intron_variant MELA-AU X 106013206 106013206 single base substitution C T intron_variant MELA-AU X 106013224 106013224 single base substitution C T intron_variant MELA-AU X 106013259 106013259 single base substitution G A intron_variant MELA-AU X 106013333 106013333 single base substitution C G intron_variant MELA-AU X 106013456 106013456 single base substitution G A intron_variant MELA-AU X 106013692 106013692 single base substitution C T intron_variant MELA-AU X 106013693 106013693 single base substitution C T intron_variant MELA-AU X 106013834 106013834 single base substitution C T intron_variant MELA-AU X 106014094 106014094 single base substitution G A intron_variant MELA-AU X 106014334 106014334 single base substitution C T intron_variant MELA-AU X 106014351 106014351 single base substitution C T intron_variant MELA-AU X 106014560 106014560 single base substitution C T intron_variant MELA-AU X 106014771 106014771 single base substitution G A intron_variant MELA-AU X 106014858 106014858 single base substitution C G intron_variant MELA-AU X 106015026 106015026 single base substitution G A intron_variant MELA-AU X 106015353 106015353 single base substitution G A intron_variant MELA-AU X 106015486 106015486 single base substitution G A intron_variant MELA-AU X 106016072 106016072 single base substitution C T intron_variant MELA-AU X 106016125 106016125 single base substitution A G intron_variant MELA-AU X 106016246 106016246 single base substitution G A synonymous_variant G143G 429G>A MELA-AU X 106016246 106016246 single base substitution G A synonymous_variant G170G 510G>A MELA-AU X 106016246 106016246 single base substitution G A synonymous_variant G196G 588G>A MELA-AU X 106016255 106016255 single base substitution T C synonymous_variant H146H 438T>C MELA-AU X 106016255 106016255 single base substitution T C synonymous_variant H173H 519T>C MELA-AU X 106016255 106016255 single base substitution T C synonymous_variant H199H 597T>C MELA-AU X 106016489 106016489 single base substitution G A intron_variant MELA-AU X 106016578 106016578 single base substitution T C intron_variant MELA-AU X 106016744 106016744 single base substitution G A intron_variant MELA-AU X 106016754 106016754 single base substitution C T intron_variant MELA-AU X 106016950 106016950 single base substitution C T intron_variant MELA-AU X 106016995 106016995 single base substitution G A intron_variant MELA-AU X 106017073 106017073 single base substitution C T intron_variant MELA-AU X 106017321 106017321 single base substitution C T intron_variant MELA-AU X 106017335 106017335 single base substitution A G intron_variant MELA-AU X 106017346 106017346 single base substitution G A intron_variant MELA-AU X 106017351 106017351 single base substitution C T intron_variant MELA-AU X 106017406 106017406 single base substitution C T intron_variant MELA-AU X 106017705 106017705 single base substitution C T intron_variant MELA-AU X 106017920 106017920 single base substitution A G intron_variant MELA-AU X 106018206 106018206 single base substitution T G intron_variant MELA-AU X 106018371 106018371 single base substitution C T intron_variant MELA-AU X 106019016 106019016 single base substitution G A intron_variant MELA-AU X 106019211 106019211 single base substitution G A intron_variant MELA-AU X 106019430 106019430 single base substitution G A intron_variant MELA-AU X 106019441 106019441 single base substitution G A intron_variant MELA-AU X 106019566 106019566 single base substitution G A intron_variant MELA-AU X 106019599 106019599 single base substitution G A intron_variant MELA-AU X 106019677 106019677 single base substitution C T intron_variant MELA-AU X 106020073 106020073 single base substitution G A intron_variant MELA-AU X 106020074 106020074 single base substitution G A intron_variant MELA-AU X 106020163 106020163 single base substitution C T intron_variant MELA-AU X 106020534 106020534 single base substitution C T intron_variant MELA-AU X 106020789 106020789 single base substitution G A intron_variant MELA-AU X 106020848 106020848 single base substitution C T intron_variant MELA-AU X 106020997 106020997 single base substitution C T intron_variant MELA-AU X 106021149 106021149 single base substitution G A intron_variant MELA-AU X 106021397 106021397 single base substitution G A intron_variant MELA-AU X 106021597 106021597 single base substitution T G intron_variant MELA-AU X 106021672 106021672 single base substitution G A intron_variant MELA-AU X 106022134 106022134 single base substitution G A intron_variant MELA-AU X 106022896 106022896 single base substitution C T intron_variant MELA-AU X 106023831 106023831 single base substitution C T intron_variant MELA-AU X 106023911 106023911 single base substitution C T intron_variant MELA-AU X 106024297 106024297 single base substitution C T intron_variant MELA-AU X 106024361 106024361 single base substitution G A intron_variant MELA-AU X 106024604 106024604 single base substitution G T intron_variant MELA-AU X 106024611 106024611 single base substitution T C intron_variant MELA-AU X 106024756 106024756 single base substitution G A intron_variant MELA-AU X 106025153 106025153 single base substitution C T intron_variant MELA-AU X 106026302 106026302 single base substitution C T intron_variant MELA-AU X 106026486 106026486 single base substitution A T intron_variant MELA-AU X 106027195 106027195 single base substitution A C intron_variant MELA-AU X 106027375 106027375 single base substitution C T intron_variant MELA-AU X 106027398 106027398 single base substitution G A intron_variant MELA-AU X 106027472 106027472 single base substitution C T intron_variant MELA-AU X 106027487 106027487 single base substitution C T intron_variant MELA-AU X 106027532 106027532 single base substitution T G intron_variant MELA-AU X 106027861 106027861 single base substitution A G intron_variant MELA-AU X 106027888 106027888 single base substitution C T intron_variant MELA-AU X 106027980 106027980 single base substitution G A intron_variant MELA-AU X 106027999 106027999 single base substitution C T intron_variant MELA-AU X 106028550 106028550 single base substitution C T intron_variant MELA-AU X 106028775 106028775 single base substitution A G intron_variant MELA-AU X 106029041 106029041 single base substitution G A intron_variant MELA-AU X 106029362 106029362 single base substitution G T intron_variant MELA-AU X 106029462 106029462 single base substitution C T intron_variant MELA-AU X 106029646 106029646 single base substitution G A intron_variant MELA-AU X 106029930 106029930 single base substitution C T intron_variant MELA-AU X 106030055 106030055 single base substitution G A intron_variant MELA-AU X 106030617 106030618 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 106030919 106030919 single base substitution C T intron_variant MELA-AU X 106031049 106031049 single base substitution G A intron_variant MELA-AU X 106031335 106031335 single base substitution G A intron_variant MELA-AU X 106033186 106033186 single base substitution A G intron_variant MELA-AU X 106033426 106033426 single base substitution C T missense_variant H247Y 739C>T MELA-AU X 106033426 106033426 single base substitution C T missense_variant H274Y 820C>T MELA-AU X 106033426 106033426 single base substitution C T missense_variant H300Y 898C>T MELA-AU X 106033742 106033742 single base substitution G A downstream_gene_variant MELA-AU X 106033742 106033742 single base substitution G A intron_variant MELA-AU X 106033891 106033891 single base substitution G A downstream_gene_variant MELA-AU X 106033891 106033891 single base substitution G A intron_variant MELA-AU X 106034246 106034246 single base substitution G A downstream_gene_variant MELA-AU X 106034246 106034246 single base substitution G A intron_variant MELA-AU X 106034946 106034946 single base substitution A C downstream_gene_variant MELA-AU X 106034946 106034946 single base substitution A C intron_variant MELA-AU X 106035108 106035108 single base substitution C T downstream_gene_variant MELA-AU X 106035108 106035108 single base substitution C T intron_variant MELA-AU X 106035901 106035901 single base substitution C T downstream_gene_variant MELA-AU X 106035901 106035901 single base substitution C T intron_variant MELA-AU X 106036247 106036247 single base substitution T C downstream_gene_variant MELA-AU X 106036247 106036247 single base substitution T C intron_variant MELA-AU X 106036248 106036248 single base substitution C T downstream_gene_variant MELA-AU X 106036248 106036248 single base substitution C T intron_variant MELA-AU X 106036396 106036396 single base substitution C T downstream_gene_variant MELA-AU X 106036396 106036396 single base substitution C T intron_variant MELA-AU X 106036591 106036591 single base substitution G A downstream_gene_variant MELA-AU X 106036591 106036591 single base substitution G A intron_variant MELA-AU X 106036813 106036813 single base substitution C T downstream_gene_variant MELA-AU X 106036813 106036813 single base substitution C T intron_variant MELA-AU X 106037353 106037353 single base substitution G A downstream_gene_variant MELA-AU X 106037353 106037353 single base substitution G A intron_variant MELA-AU X 106037429 106037429 single base substitution C T downstream_gene_variant MELA-AU X 106037429 106037429 single base substitution C T intron_variant MELA-AU X 106037639 106037639 single base substitution C T downstream_gene_variant MELA-AU X 106037639 106037639 single base substitution C T intron_variant MELA-AU X 106037805 106037805 single base substitution G A downstream_gene_variant MELA-AU X 106037805 106037805 single base substitution G A intron_variant MELA-AU X 106038397 106038397 single base substitution C T downstream_gene_variant MELA-AU X 106038397 106038397 single base substitution C T intron_variant MELA-AU X 106039040 106039040 single base substitution A G 3_prime_UTR_variant MELA-AU X 106039307 106039307 single base substitution G A 3_prime_UTR_variant MELA-AU X 106039489 106039489 single base substitution C T 3_prime_UTR_variant MELA-AU X 106039743 106039743 single base substitution C T 3_prime_UTR_variant MELA-AU X 106039906 106039906 single base substitution G A 3_prime_UTR_variant MELA-AU X 106040092 106040092 single base substitution G A 3_prime_UTR_variant MELA-AU X 106040312 106040312 single base substitution G A downstream_gene_variant MELA-AU X 106040580 106040580 single base substitution G A downstream_gene_variant MELA-AU X 106040758 106040758 single base substitution G A downstream_gene_variant MELA-AU X 106041370 106041370 single base substitution C T downstream_gene_variant MELA-AU X 106041612 106041612 single base substitution C T downstream_gene_variant MELA-AU X 106042839 106042839 single base substitution G A downstream_gene_variant MELA-AU X 106043931 106043931 single base substitution G A downstream_gene_variant MELA-AU X 106043990 106043990 single base substitution A G downstream_gene_variant MELA-AU X 106044812 106044812 single base substitution C T downstream_gene_variant ORCA-IN X 105937388 105937388 single base substitution C T synonymous_variant G25G 75C>T ORCA-IN X 105937388 105937388 single base substitution C T synonymous_variant G52G 156C>T ORCA-IN X 106013920 106013920 single base substitution G A intron_variant ORCA-IN X 106017323 106017323 single base substitution G C intron_variant ORCA-IN X 106028747 106028747 single base substitution G C intron_variant OV-AU X 105932868 105932868 single base substitution T G upstream_gene_variant OV-AU X 105935399 105935399 single base substitution C A upstream_gene_variant OV-AU X 105936039 105936039 single base substitution A G upstream_gene_variant OV-AU X 105939002 105939002 single base substitution A T intron_variant OV-AU X 105940311 105940311 single base substitution C A intron_variant OV-AU X 105940312 105940312 single base substitution T A intron_variant OV-AU X 105941232 105941232 single base substitution G C intron_variant OV-AU X 105948947 105948947 single base substitution G C intron_variant OV-AU X 105949954 105949954 single base substitution G A intron_variant OV-AU X 105958683 105958683 single base substitution T A intron_variant OV-AU X 105961075 105961075 single base substitution C A intron_variant OV-AU X 105967512 105967512 single base substitution C G intron_variant OV-AU X 105967512 105967512 single base substitution C G upstream_gene_variant OV-AU X 105970246 105970246 single base substitution G A intron_variant OV-AU X 105970246 105970246 single base substitution G A missense_variant G35S 103G>A OV-AU X 105972171 105972171 single base substitution C G intron_variant OV-AU X 105973317 105973317 single base substitution G A intron_variant OV-AU X 105976808 105976808 single base substitution A G intron_variant OV-AU X 105982749 105982749 single base substitution T A intron_variant OV-AU X 105985083 105985083 single base substitution A G intron_variant OV-AU X 105987388 105987388 single base substitution G A intron_variant OV-AU X 105987413 105987413 single base substitution G T intron_variant OV-AU X 105988495 105988495 single base substitution C T intron_variant OV-AU X 105995725 105995725 single base substitution G T intron_variant OV-AU X 105996746 105996746 single base substitution C A intron_variant OV-AU X 106002302 106002302 single base substitution T A intron_variant OV-AU X 106006714 106006714 single base substitution T C intron_variant OV-AU X 106009106 106009106 single base substitution A C intron_variant OV-AU X 106017610 106017610 single base substitution T C intron_variant OV-AU X 106020698 106020698 single base substitution C T intron_variant OV-AU X 106022015 106022015 single base substitution A C intron_variant OV-AU X 106022900 106022900 single base substitution G A intron_variant OV-AU X 106025865 106025865 single base substitution G A intron_variant OV-AU X 106026435 106026435 single base substitution A C intron_variant OV-AU X 106026462 106026462 single base substitution C A intron_variant OV-AU X 106030057 106030057 single base substitution A T intron_variant OV-AU X 106044147 106044147 single base substitution T C downstream_gene_variant PACA-AU X 105934288 105934288 single base substitution C T upstream_gene_variant PACA-AU X 105935958 105935958 single base substitution C T upstream_gene_variant PACA-AU X 105936633 105936633 single base substitution G C upstream_gene_variant PACA-AU X 105937514 105937517 deletion of <=200bp GATA - frameshift_variant LI67 PACA-AU X 105937514 105937517 deletion of <=200bp GATA - frameshift_variant LI94 PACA-AU X 105943230 105943230 single base substitution T C intron_variant PACA-AU X 105945074 105945074 single base substitution G C intron_variant PACA-AU X 105951353 105951353 single base substitution A G intron_variant PACA-AU X 105952211 105952211 deletion of <=200bp T - intron_variant PACA-AU X 105956220 105956220 single base substitution C T intron_variant PACA-AU X 105966812 105966812 single base substitution A G intron_variant PACA-AU X 105966812 105966812 single base substitution A G upstream_gene_variant PACA-AU X 105967530 105967530 single base substitution T C intron_variant PACA-AU X 105967530 105967530 single base substitution T C upstream_gene_variant PACA-AU X 105968985 105968985 single base substitution T G intron_variant PACA-AU X 105968985 105968985 single base substitution T G upstream_gene_variant PACA-AU X 105976310 105976310 single base substitution A T intron_variant PACA-AU X 105978133 105978133 single base substitution C T intron_variant PACA-AU X 105987638 105987638 single base substitution G C intron_variant PACA-AU X 105988017 105988017 deletion of <=200bp C - intron_variant PACA-AU X 105998161 105998161 single base substitution A T intron_variant PACA-AU X 106003812 106003812 single base substitution G A intron_variant PACA-AU X 106011062 106011062 single base substitution T C intron_variant PACA-AU X 106011580 106011580 deletion of <=200bp T - intron_variant PACA-AU X 106023597 106023597 single base substitution C A intron_variant PACA-AU X 106024257 106024258 deletion of <=200bp TT - intron_variant PACA-AU X 106029425 106029425 single base substitution G T intron_variant PACA-AU X 106030044 106030044 single base substitution A T intron_variant PACA-AU X 106030564 106030564 single base substitution A C intron_variant PACA-AU X 106035401 106035401 single base substitution A G downstream_gene_variant PACA-AU X 106035401 106035401 single base substitution A G intron_variant PACA-AU X 106041370 106041370 single base substitution C G downstream_gene_variant PACA-CA X 105936473 105936473 single base substitution C T upstream_gene_variant PACA-CA X 105937549 105937549 single base substitution T A missense_variant I106N 317T>A PACA-CA X 105937549 105937549 single base substitution T A missense_variant I79N 236T>A PACA-CA X 105941325 105941325 single base substitution T G intron_variant PACA-CA X 105952677 105952677 single base substitution C A intron_variant PACA-CA X 105953369 105953369 single base substitution T C intron_variant PACA-CA X 105954740 105954740 single base substitution T G intron_variant PACA-CA X 105955102 105955102 single base substitution T C intron_variant PACA-CA X 105958635 105958635 single base substitution A G intron_variant PACA-CA X 105962020 105962027 deletion of <=200bp TTGTCTAA - intron_variant PACA-CA X 105962186 105962186 single base substitution T C intron_variant PACA-CA X 105965133 105965133 single base substitution G T intron_variant PACA-CA X 105965133 105965133 single base substitution G T upstream_gene_variant PACA-CA X 105967333 105967333 single base substitution A G intron_variant PACA-CA X 105967333 105967333 single base substitution A G upstream_gene_variant PACA-CA X 105970381 105970381 single base substitution G T intron_variant PACA-CA X 105970381 105970381 single base substitution G T missense_variant V80L 238G>T PACA-CA X 105971381 105971381 single base substitution G A intron_variant PACA-CA X 105973135 105973135 single base substitution C T intron_variant PACA-CA X 105986235 105986235 single base substitution A G intron_variant PACA-CA X 105986961 105986961 single base substitution G C intron_variant PACA-CA X 105990754 105990778 deletion of <=200bp CTAGCACAGCCTGACCTCCTTCATG - intron_variant PACA-CA X 105996843 105996843 single base substitution A C intron_variant PACA-CA X 105998629 105998629 single base substitution A G intron_variant PACA-CA X 106000979 106000979 deletion of <=200bp A - intron_variant PACA-CA X 106003387 106003387 single base substitution T C intron_variant PACA-CA X 106005716 106005716 single base substitution T C intron_variant PACA-CA X 106005786 106005786 single base substitution G A intron_variant PACA-CA X 106005909 106005909 single base substitution T C intron_variant PACA-CA X 106007444 106007444 single base substitution C A intron_variant PACA-CA X 106015593 106015593 single base substitution G C intron_variant PACA-CA X 106018433 106018433 single base substitution G T intron_variant PACA-CA X 106024528 106024528 single base substitution A G intron_variant PACA-CA X 106025847 106025880 deletion of <=200bp TGAGCATCTCTAAAATGAGGATATTACCTTCTTC - intron_variant PACA-CA X 106026013 106026013 single base substitution C T intron_variant PACA-CA X 106027058 106027058 single base substitution G A intron_variant PACA-CA X 106032204 106032204 single base substitution A G intron_variant PACA-CA X 106032639 106032639 insertion of <=200bp - CAT intron_variant PACA-CA X 106032853 106032853 single base substitution T C intron_variant PACA-CA X 106035059 106035059 single base substitution G T downstream_gene_variant PACA-CA X 106035059 106035059 single base substitution G T intron_variant PACA-CA X 106041590 106041590 single base substitution A G downstream_gene_variant PACA-CA X 106042576 106042576 single base substitution G T downstream_gene_variant PAEN-AU X 105960362 105960362 single base substitution G A intron_variant PAEN-AU X 105982632 105982632 single base substitution G A intron_variant PAEN-AU X 106010316 106010316 single base substitution G T intron_variant PAEN-AU X 106042011 106042011 single base substitution G C downstream_gene_variant PAEN-IT X 105935587 105935587 single base substitution A T upstream_gene_variant PAEN-IT X 105943995 105943995 single base substitution G A intron_variant PAEN-IT X 105973353 105973353 single base substitution A G intron_variant PAEN-IT X 106005074 106005074 single base substitution C A intron_variant PAEN-IT X 106017085 106017085 single base substitution C T intron_variant PBCA-DE X 105933805 105933805 single base substitution C A upstream_gene_variant PBCA-DE X 105951297 105951297 single base substitution G T intron_variant PBCA-DE X 105954847 105954847 single base substitution G T intron_variant PBCA-DE X 105960770 105960770 single base substitution C T intron_variant PBCA-DE X 105961103 105961103 single base substitution T C intron_variant PBCA-DE X 105961256 105961256 single base substitution G T intron_variant PBCA-DE X 105967607 105967607 single base substitution C T intron_variant PBCA-DE X 105967607 105967607 single base substitution C T upstream_gene_variant PBCA-DE X 105977403 105977404 deletion of <=200bp GA - intron_variant PBCA-DE X 105979193 105979193 insertion of <=200bp - T intron_variant PBCA-DE X 105983871 105983871 single base substitution T A intron_variant PBCA-DE X 105985153 105985153 single base substitution G T intron_variant PBCA-DE X 105993629 105993629 deletion of <=200bp T - intron_variant PBCA-DE X 105998447 105998447 single base substitution C G intron_variant PBCA-DE X 106001257 106001257 single base substitution G A intron_variant PBCA-DE X 106004839 106004839 single base substitution A G intron_variant PBCA-DE X 106007035 106007035 single base substitution G A intron_variant PBCA-DE X 106016471 106016471 single base substitution T C intron_variant PBCA-DE X 106019518 106019518 single base substitution A G intron_variant PBCA-DE X 106032566 106032566 insertion of <=200bp - AC intron_variant PBCA-DE X 106032823 106032824 deletion of <=200bp TG - intron_variant PBCA-DE X 106032877 106032877 deletion of <=200bp A - intron_variant PBCA-DE X 106033775 106033775 single base substitution C G downstream_gene_variant PBCA-DE X 106033775 106033775 single base substitution C G intron_variant PBCA-DE X 106042576 106042576 single base substitution G T downstream_gene_variant PBCA-DE X 106043638 106043639 deletion of <=200bp GT - downstream_gene_variant PRAD-CA X 105935080 105935080 single base substitution T C upstream_gene_variant PRAD-CA X 105955092 105955092 single base substitution C T intron_variant PRAD-CA X 105969900 105969900 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PRAD-CA X 105969900 105969900 single base substitution C T intron_variant PRAD-CA X 106032658 106032658 single base substitution T G intron_variant PRAD-CA X 106037033 106037033 single base substitution A G downstream_gene_variant PRAD-CA X 106037033 106037033 single base substitution A G intron_variant PRAD-CA X 106044726 106044726 single base substitution C T downstream_gene_variant PRAD-UK X 105933492 105933492 single base substitution C A upstream_gene_variant PRAD-UK X 105935459 105935459 single base substitution A G upstream_gene_variant PRAD-UK X 105935756 105935756 single base substitution A G upstream_gene_variant PRAD-UK X 105971216 105971216 single base substitution C T intron_variant PRAD-UK X 105982759 105982759 single base substitution A G intron_variant PRAD-UK X 105989400 105989400 single base substitution C A intron_variant PRAD-UK X 106000114 106000114 deletion of <=200bp T - intron_variant PRAD-UK X 106012177 106012177 single base substitution T A intron_variant PRAD-UK X 106035248 106035248 single base substitution C T downstream_gene_variant PRAD-UK X 106035248 106035248 single base substitution C T intron_variant READ-US X 105970343 105970343 single base substitution A T intron_variant READ-US X 105970343 105970343 single base substitution A T missense_variant E67V 200A>T RECA-EU X 105942437 105942437 single base substitution T C intron_variant RECA-EU X 105950290 105950290 single base substitution C G intron_variant RECA-EU X 105954822 105954822 single base substitution T C intron_variant RECA-EU X 105957803 105957803 single base substitution G T intron_variant RECA-EU X 105962513 105962513 single base substitution G A intron_variant RECA-EU X 105981957 105981957 single base substitution C G intron_variant RECA-EU X 106002746 106002746 single base substitution A T intron_variant RECA-EU X 106005947 106005947 single base substitution T C intron_variant RECA-EU X 106031401 106031401 single base substitution A C intron_variant SKCA-BR X 105932626 105932626 single base substitution C T upstream_gene_variant SKCA-BR X 105932879 105932879 single base substitution A G upstream_gene_variant SKCA-BR X 105934328 105934328 insertion of <=200bp - AT upstream_gene_variant SKCA-BR X 105936571 105936571 single base substitution C T upstream_gene_variant SKCA-BR X 105936591 105936591 insertion of <=200bp - AAC upstream_gene_variant SKCA-BR X 105937518 105937518 single base substitution G A missense_variant E69K 205G>A SKCA-BR X 105937518 105937518 single base substitution G A missense_variant E96K 286G>A SKCA-BR X 105937608 105937608 single base substitution G A missense_variant G126S 376G>A SKCA-BR X 105937608 105937608 single base substitution G A missense_variant G99S 295G>A SKCA-BR X 105937663 105937664 deletion of <=200bp AG - intron_variant SKCA-BR X 105940278 105940278 single base substitution G A intron_variant SKCA-BR X 105941912 105941912 single base substitution T C intron_variant SKCA-BR X 105942879 105942879 single base substitution C T intron_variant SKCA-BR X 105943588 105943588 single base substitution C T intron_variant SKCA-BR X 105945279 105945279 single base substitution C T intron_variant SKCA-BR X 105948424 105948424 single base substitution C T intron_variant SKCA-BR X 105948909 105948909 single base substitution T C intron_variant SKCA-BR X 105950411 105950411 single base substitution C T intron_variant SKCA-BR X 105950520 105950520 single base substitution C T intron_variant SKCA-BR X 105950927 105950927 single base substitution C T intron_variant SKCA-BR X 105951181 105951181 single base substitution C T intron_variant SKCA-BR X 105951929 105951929 single base substitution G A intron_variant SKCA-BR X 105952555 105952555 single base substitution C T intron_variant SKCA-BR X 105952806 105952806 single base substitution C T intron_variant SKCA-BR X 105953976 105953977 deletion of <=200bp CA - intron_variant SKCA-BR X 105954503 105954503 single base substitution T A intron_variant SKCA-BR X 105954705 105954705 single base substitution C T intron_variant SKCA-BR X 105956330 105956330 single base substitution C T intron_variant SKCA-BR X 105956707 105956707 single base substitution G A intron_variant SKCA-BR X 105956819 105956819 single base substitution C T intron_variant SKCA-BR X 105963000 105963000 single base substitution A C intron_variant SKCA-BR X 105963909 105963909 single base substitution G A intron_variant SKCA-BR X 105964976 105964976 single base substitution G A intron_variant SKCA-BR X 105964976 105964976 single base substitution G A upstream_gene_variant SKCA-BR X 105966334 105966334 single base substitution T A intron_variant SKCA-BR X 105966334 105966334 single base substitution T A upstream_gene_variant SKCA-BR X 105967851 105967851 single base substitution C T intron_variant SKCA-BR X 105967851 105967851 single base substitution C T upstream_gene_variant SKCA-BR X 105971181 105971181 single base substitution C T intron_variant SKCA-BR X 105975942 105975942 single base substitution T G intron_variant SKCA-BR X 105977437 105977437 single base substitution G A intron_variant SKCA-BR X 105979687 105979687 single base substitution C T intron_variant SKCA-BR X 105982951 105982951 single base substitution C T intron_variant SKCA-BR X 105987151 105987151 single base substitution C T intron_variant SKCA-BR X 105987152 105987152 single base substitution C T intron_variant SKCA-BR X 105987591 105987591 single base substitution T C intron_variant SKCA-BR X 105988782 105988782 single base substitution G A intron_variant SKCA-BR X 105989921 105989921 single base substitution C T intron_variant SKCA-BR X 105991338 105991338 single base substitution A G intron_variant SKCA-BR X 105991376 105991376 single base substitution G A intron_variant SKCA-BR X 105994291 105994291 single base substitution C T intron_variant SKCA-BR X 105995726 105995726 single base substitution G A intron_variant SKCA-BR X 105998396 105998396 single base substitution G A intron_variant SKCA-BR X 105999886 105999886 single base substitution C T intron_variant SKCA-BR X 106003162 106003162 single base substitution A C intron_variant SKCA-BR X 106003668 106003668 single base substitution C T intron_variant SKCA-BR X 106004822 106004822 single base substitution A C intron_variant SKCA-BR X 106005024 106005024 single base substitution C T intron_variant SKCA-BR X 106008816 106008816 single base substitution G A intron_variant SKCA-BR X 106010442 106010442 single base substitution C T intron_variant SKCA-BR X 106011604 106011604 single base substitution T C intron_variant SKCA-BR X 106011651 106011651 single base substitution A G intron_variant SKCA-BR X 106012867 106012867 single base substitution G A intron_variant SKCA-BR X 106013419 106013419 single base substitution T A intron_variant SKCA-BR X 106016352 106016352 single base substitution C T stop_gained R179* 535C>T SKCA-BR X 106016352 106016352 single base substitution C T stop_gained R206* 616C>T SKCA-BR X 106016352 106016352 single base substitution C T stop_gained R232* 694C>T SKCA-BR X 106019980 106019980 single base substitution G A intron_variant SKCA-BR X 106021218 106021218 single base substitution C T intron_variant SKCA-BR X 106026769 106026769 single base substitution G A intron_variant SKCA-BR X 106028135 106028135 single base substitution G A intron_variant SKCA-BR X 106029912 106029912 single base substitution G A intron_variant SKCA-BR X 106032659 106032659 insertion of <=200bp - AGTATATATTATATACATTATACACTATATAATATAGT intron_variant SKCA-BR X 106032720 106032722 deletion of <=200bp CTA - intron_variant SKCA-BR X 106034514 106034514 single base substitution C T downstream_gene_variant SKCA-BR X 106034514 106034514 single base substitution C T intron_variant SKCA-BR X 106040296 106040296 single base substitution C T downstream_gene_variant SKCA-BR X 106042335 106042335 single base substitution C T downstream_gene_variant SKCA-BR X 106043726 106043726 single base substitution A C downstream_gene_variant SKCA-BR X 106043931 106043931 single base substitution G A downstream_gene_variant SKCM-US X 105937241 105937241 single base substitution G A intron_variant SKCM-US X 105937241 105937241 single base substitution G A synonymous_variant Q3Q 9G>A SKCM-US X 105937258 105937258 single base substitution T G intron_variant SKCM-US X 105937258 105937258 single base substitution T G missense_variant F9C 26T>G SKCM-US X 105937347 105937347 single base substitution G A missense_variant E12K 34G>A SKCM-US X 105937347 105937347 single base substitution G A missense_variant E39K 115G>A SKCM-US X 105970251 105970251 single base substitution C T intron_variant SKCM-US X 105970251 105970251 single base substitution C T synonymous_variant S36S 108C>T SKCM-US X 106016203 106016203 single base substitution C T missense_variant S129F 386C>T SKCM-US X 106016203 106016203 single base substitution C T missense_variant S156F 467C>T SKCM-US X 106016203 106016203 single base substitution C T missense_variant S182F 545C>T SKCM-US X 106016214 106016214 single base substitution G A missense_variant G133S 397G>A SKCM-US X 106016214 106016214 single base substitution G A missense_variant G160S 478G>A SKCM-US X 106016214 106016214 single base substitution G A missense_variant G186S 556G>A SKCM-US X 106016278 106016278 single base substitution C T missense_variant S154L 461C>T SKCM-US X 106016278 106016278 single base substitution C T missense_variant S181L 542C>T SKCM-US X 106016278 106016278 single base substitution C T missense_variant S207L 620C>T SKCM-US X 106016288 106016288 single base substitution C T synonymous_variant F157F 471C>T SKCM-US X 106016288 106016288 single base substitution C T synonymous_variant F184F 552C>T SKCM-US X 106016288 106016288 single base substitution C T synonymous_variant F210F 630C>T SKCM-US X 106016299 106016299 single base substitution C T missense_variant S161F 482C>T SKCM-US X 106016299 106016299 single base substitution C T missense_variant S188F 563C>T SKCM-US X 106016299 106016299 single base substitution C T missense_variant S214F 641C>T SKCM-US X 106016362 106016362 single base substitution G A missense_variant R182Q 545G>A SKCM-US X 106016362 106016362 single base substitution G A missense_variant R209Q 626G>A SKCM-US X 106016362 106016362 single base substitution G A missense_variant R235Q 704G>A SKCM-US X 106028359 106028359 single base substitution G A missense_variant G213E 638G>A SKCM-US X 106028359 106028359 single base substitution G A missense_variant G240E 719G>A SKCM-US X 106028359 106028359 single base substitution G A missense_variant G266E 797G>A SKCM-US X 106033472 106033472 single base substitution C G downstream_gene_variant SKCM-US X 106033472 106033472 single base substitution C G missense_variant P289R 866C>G SKCM-US X 106033472 106033472 single base substitution C G missense_variant P315R 944C>G SKCM-US X 106034423 106034423 single base substitution G A downstream_gene_variant SKCM-US X 106034423 106034423 single base substitution G A missense_variant G345E 1034G>A SKCM-US X 106034423 106034423 single base substitution G A missense_variant G371E 1112G>A SKCM-US X 106038899 106038899 single base substitution G A missense_variant E389K 1165G>A SKCM-US X 106038899 106038899 single base substitution G A missense_variant E415K 1243G>A STAD-US X 105937253 105937254 deletion of <=200bp CA - frameshift_variant SS7 STAD-US X 105937253 105937254 deletion of <=200bp CA - intron_variant STAD-US X 105937331 105937332 deletion of <=200bp TG - frameshift_variant TV33 STAD-US X 105937331 105937332 deletion of <=200bp TG - frameshift_variant TV6 STAD-US X 105970199 105970199 single base substitution G T intron_variant STAD-US X 105970199 105970199 single base substitution G T missense_variant R19I 56G>T STAD-US X 105970349 105970349 single base substitution G A intron_variant STAD-US X 105970349 105970349 single base substitution G A missense_variant G69D 206G>A STAD-US X 105970426 105970426 single base substitution G A intron_variant STAD-US X 105970426 105970426 single base substitution G A missense_variant A95T 283G>A STAD-US X 105970509 105970509 single base substitution C T intron_variant STAD-US X 105970509 105970509 single base substitution C T synonymous_variant R122R 366C>T STAD-US X 106016247 106016247 deletion of <=200bp A - frameshift_variant K144 STAD-US X 106016247 106016247 deletion of <=200bp A - frameshift_variant K171 STAD-US X 106016247 106016247 deletion of <=200bp A - frameshift_variant K197 STAD-US X 106016301 106016301 deletion of <=200bp T - frameshift_variant F162 STAD-US X 106016301 106016301 deletion of <=200bp T - frameshift_variant F189 STAD-US X 106016301 106016301 deletion of <=200bp T - frameshift_variant F215 STAD-US X 106028294 106028294 single base substitution G A splice_acceptor_variant STAD-US X 106038898 106038898 single base substitution C T synonymous_variant D388D 1164C>T STAD-US X 106038898 106038898 single base substitution C T synonymous_variant D414D 1242C>T THCA-US X 105970419 105970419 single base substitution G T intron_variant THCA-US X 105970419 105970419 single base substitution G T synonymous_variant A92A 276G>T THCA-US X 106016280 106016280 insertion of <=200bp - T frameshift_variant I155Y? THCA-US X 106016280 106016280 insertion of <=200bp - T frameshift_variant I182Y? THCA-US X 106016280 106016280 insertion of <=200bp - T frameshift_variant I208Y? UCEC-US X 105937374 105937374 single base substitution A G missense_variant T21A 61A>G UCEC-US X 105937374 105937374 single base substitution A G missense_variant T48A 142A>G UCEC-US X 105937522 105937522 single base substitution G T missense_variant R70I 209G>T UCEC-US X 105937522 105937522 single base substitution G T missense_variant R97I 290G>T UCEC-US X 105970443 105970443 single base substitution G A intron_variant UCEC-US X 105970443 105970443 single base substitution G A synonymous_variant T100T 300G>A UCEC-US X 106016208 106016208 single base substitution C A missense_variant Q131K 391C>A UCEC-US X 106016208 106016208 single base substitution C A missense_variant Q158K 472C>A UCEC-US X 106016208 106016208 single base substitution C A missense_variant Q184K 550C>A UCEC-US X 106016320 106016320 single base substitution C T missense_variant A168V 503C>T UCEC-US X 106016320 106016320 single base substitution C T missense_variant A195V 584C>T UCEC-US X 106016320 106016320 single base substitution C T missense_variant A221V 662C>T UCEC-US X 106016375 106016375 single base substitution T G synonymous_variant A186A 558T>G UCEC-US X 106016375 106016375 single base substitution T G synonymous_variant A213A 639T>G UCEC-US X 106016375 106016375 single base substitution T G synonymous_variant A239A 717T>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YULOCUS COSM5411658 c.1266T>A p.A422A Substitution - coding silent 23:106795692-106795692 + Pat_70_B COSM5876769 c.689C>T p.S230F Substitution - Missense 23:106773117-106773117 + pfg181T COSM2735825 c.589delA p.K198fs*6 Deletion - Frameshift 23:106773017-106773017 + TCGA-ER-A19P-06 COSM3556395 c.944C>G p.P315R Substitution - Missense 23:106790242-106790242 + TCGA-34-5231-01 COSM754741 c.824A>G p.D275G Substitution - Missense 23:106787937-106787937 + TCGA-D8-A1XQ-01 COSM3843122 c.454C>T p.R152C Substitution - Missense 23:106727367-106727367 + TCGA-AA-3975-01 COSM5116908 c.109_110insG p.A39fs*2 Insertion - Frameshift 23:106727022-106727023 + ESCC-159T COSM3939719 c.460G>A p.E154K Substitution - Missense 23:106727373-106727373 + Br27P COSM40552 c.206G>A p.G69D Substitution - Missense 23:106727119-106727119 + TCGA-A8-A0A6-01 COSM3843123 c.986T>G p.V329G Substitution - Missense 23:106791067-106791067 + MX02 COSM5760512 c.597T>G p.H199Q Substitution - Missense 23:106773025-106773025 + TCGA-BR-8368-01 COSM4105637 c.283G>A p.A95T Substitution - Missense 23:106727196-106727196 + TCGA-AZ-4313-01 COSM5137797 c.1052delC p.S352fs*40 Deletion - Frameshift 23:106791133-106791133 + CHC1182T COSM4788754 c.948G>A p.M316I Substitution - Missense 23:106790246-106790246 + TCGA-BR-8368-01 COSM40552 c.206G>A p.G69D Substitution - Missense 23:106727119-106727119 + TCGA-29-2429-01 COSM1331387 c.637G>C p.V213L Substitution - Missense 23:106773065-106773065 + S02385 COSM5698947 c.660G>A p.A220A Substitution - coding silent 23:106773088-106773088 + CHC1774T COSM4802439 c.1004C>A p.S335* Substitution - Nonsense 23:106791085-106791085 + T55 COSM4721972 c.623delT p.F210fs*38 Deletion - Frameshift 23:106773051-106773051 + Gp5D COSM2735817 c.366C>T p.R122R Substitution - coding silent 23:106727279-106727279 + TCGA-CZ-4861-01 COSM3363739 c.431T>C p.V144A Substitution - Missense 23:106727344-106727344 + TCGA-QG-A5YW-01 COSM5186257 c.347G>A p.W116* Substitution - Nonsense 23:106727260-106727260 + CHC1182T COSM4788754 c.948G>A p.M316I Substitution - Missense 23:106790246-106790246 + PD7206a COSM5797914 c.98C>G p.A33G Substitution - Missense 23:106727011-106727011 + TCGA-BR-A4QL-01 COSM4105636 c.56G>T p.R19I Substitution - Missense 23:106726969-106726969 + TCGA-EE-A3JA-06 COSM3556387 c.620C>T p.S207L Substitution - Missense 23:106773048-106773048 + T1204 COSM4721974 c.771G>C p.R257S Substitution - Missense 23:106785103-106785103 + TCGA-AP-A05P-01 COSM1112610 c.977G>A p.G326E Substitution - Missense 23:106790275-106790275 + HCC134T COSM5818964 c.1110G>T p.Q370H Substitution - Missense 23:106791191-106791191 + TCGA-AX-A0J1-01 COSM1112604 c.662C>T p.A221V Substitution - Missense 23:106773090-106773090 + TCGA-FK-A3SG-01 COSM3371993 c.276G>T p.A92A Substitution - coding silent 23:106727189-106727189 + TCGA-18-3409-01 COSM754743 c.367G>A p.G123S Substitution - Missense 23:106727280-106727280 + TCGA-24-1567-01 COSM82338 c.1116A>G p.T372T Substitution - coding silent 23:106791197-106791197 + C086 COSM5538286 c.1225C>T p.P409S Substitution - Missense 23:106795651-106795651 + S00472 COSM314836 c.1170_1171GG>TT p.L390>? Complex 23:106795596-106795597 + HSJD_DIPG008 COSM4746267 c.793C>T p.Q265* Substitution - Nonsense 23:106785125-106785125 + TCGA-GF-A3OT-06 COSM3913164 c.1112G>A p.G371E Substitution - Missense 23:106791193-106791193 + TCGA-06-0213 COSM2150813 c.1202A>G p.D401G Substitution - Missense 23:106795628-106795628 + TCGA-AX-A0J0-01 COSM1112608 c.717T>G p.A239A Substitution - coding silent 23:106773145-106773145 + 37M COSM5584011 c.588G>A p.G196G Substitution - coding silent 23:106773016-106773016 + ESCC-083T COSM3939718 c.193C>A p.L65M Substitution - Missense 23:106727106-106727106 + STC291 COSM5064232 c.643T>C p.F215L Substitution - Missense 23:106773071-106773071 + TCGA-HU-A4G8-01 COSM4105640 c.1242C>T p.D414D Substitution - coding silent 23:106795668-106795668 + TCGA-BR-7707-01 COSM2735817 c.366C>T p.R122R Substitution - coding silent 23:106727279-106727279 + TCGA-BS-A0UV-01 COSM1112601 c.300G>A p.T100T Substitution - coding silent 23:106727213-106727213 + TCGA-EW-A1PC-01 COSM3843121 c.103G>A p.G35S Substitution - Missense 23:106727016-106727016 + 11M COSM5577005 c.634T>A p.S212T Substitution - Missense 23:106773062-106773062 + S02245 COSM5678651 c.350T>G p.L117W Substitution - Missense 23:106727263-106727263 + TCGA-BR-6452-01 COSM4105638 c.733-1G>A p.? Unknown 23:106785064-106785064 + TCGA-P4-A5ED-01 COSM3992283 c.1153+1G>A p.? Unknown 23:106791235-106791235 + B59 COSM1756324 c.1156G>A p.E386K Substitution - Missense 23:106795582-106795582 + HCC068T COSM3371993 c.276G>T p.A92A Substitution - coding silent 23:106727189-106727189 + TCGA-06-0213-01 COSM2150813 c.1202A>G p.D401G Substitution - Missense 23:106795628-106795628 + TCGA-G4-6588-01 COSM1464673 c.110delG p.A39fs*20 Deletion - Frameshift 23:106727023-106727023 + PD9572a COSM5789507 c.591A>G p.K197K Substitution - coding silent 23:106773019-106773019 + TCGA-AF-5654-01 COSM1569786 c.200A>T p.E67V Substitution - Missense 23:106727113-106727113 + TCGA-C5-A2LX-01 COSM4827410 c.309G>A p.T103T Substitution - coding silent 23:106727222-106727222 + TCGA-CK-6746-01 COSM1464675 c.228G>A p.P76P Substitution - coding silent 23:106727141-106727141 + CHC1774T COSM4802439 c.1004C>A p.S335* Substitution - Nonsense 23:106791085-106791085 + TCGA-FJ-A3ZF-01 COSM3800317 c.1162C>G p.L388V Substitution - Missense 23:106795588-106795588 + S00472 COSM314836 c.1170_1171GG>TT p.L390>? Complex 23:106795596-106795597 + Pat_70_A COSM5876769 c.689C>T p.S230F Substitution - Missense 23:106773117-106773117 + 1_PRE-TREATMENT COSM1720275 c.630C>T p.F210F Substitution - coding silent 23:106773058-106773058 + 260211 COSM3726198 c.661G>T p.A221S Substitution - Missense 23:106773089-106773089 + T3498 COSM4721976 c.872G>A p.R291H Substitution - Missense 23:106787985-106787985 + TCGA-ER-A194-01 COSM3556393 c.797G>A p.G266E Substitution - Missense 23:106785129-106785129 + BD72T COSM5513839 c.656C>T p.T219M Substitution - Missense 23:106773084-106773084 + RK308_C01 COSM1464676 c.781C>T p.R261C Substitution - Missense 23:106785113-106785113 + YUOMEGA COSM3556397 c.1243G>A p.E415K Substitution - Missense 23:106795669-106795669 + RKO COSM4649366 c.144C>T p.N48N Substitution - coding silent 23:106727057-106727057 + TCGA-GF-A6C9-06 COSM1720275 c.630C>T p.F210F Substitution - coding silent 23:106773058-106773058 + HX12T COSM1625355 c.75C>T p.F25F Substitution - coding silent 23:106726988-106726988 + CCK81 COSM4620877 c.118G>T p.E40* Substitution - Nonsense 23:106727031-106727031 + Pat_58_B COSM5876768 c.53C>T p.S18F Substitution - Missense 23:106726966-106726966 + TCGA-EE-A2MJ-06 COSM3556397 c.1243G>A p.E415K Substitution - Missense 23:106795669-106795669 + EGC15 COSM5064231 c.448G>T p.G150W Substitution - Missense 23:106727361-106727361 + HCC078T COSM5806027 c.167C>G p.T56R Substitution - Missense 23:106727080-106727080 + LUAD_E01086 COSM390364 c.655A>T p.T219S Substitution - Missense 23:106773083-106773083 + TCGA-D1-A17Q-01 COSM1112602 c.550C>A p.Q184K Substitution - Missense 23:106772978-106772978 + CCK81 COSM4620878 c.137A>C p.Y46S Substitution - Missense 23:106727050-106727050 + TCGA-GN-A266-06 COSM3556385 c.556G>A p.G186S Substitution - Missense 23:106772984-106772984 + HCC90T COSM1625356 c.974T>C p.L325S Substitution - Missense 23:106790272-106790272 + TCGA-AZ-4315-01 COSM1464678 c.1190C>A p.S397Y Substitution - Missense 23:106795616-106795616 + TCGA-41-3393-01 COSM2735819 c.419C>T p.A140V Substitution - Missense 23:106727332-106727332 + TCGA-AA-3715-01 COSM270047 c.816T>C p.P272P Substitution - coding silent 23:106787929-106787929 + TCGA-EP-A2KB-01 COSM4921337 c.232G>T p.E78* Substitution - Nonsense 23:106727145-106727145 + TCGA-DM-A0X9-01 COSM1464676 c.781C>T p.R261C Substitution - Missense 23:106785113-106785113 + B59-Tumor COSM1756324 c.1156G>A p.E386K Substitution - Missense 23:106795582-106795582 + TCGA-GD-A3OP-01 COSM1315095 c.399T>C p.H133H Substitution - coding silent 23:106727312-106727312 + SNUH_G79_S1 COSM3681486 c.1223A>C p.N408T Substitution - Missense 23:106795649-106795649 + Patient_5_Diagnosis COSM5415132 c.563A>G p.Q188R Substitution - Missense 23:106772991-106772991 + AOCS-124-1-X COSM3843121 c.103G>A p.G35S Substitution - Missense 23:106727016-106727016 + Gp2D COSM2735817 c.366C>T p.R122R Substitution - coding silent 23:106727279-106727279 + 1_RESISTANT COSM1720275 c.630C>T p.F210F Substitution - coding silent 23:106773058-106773058 + TCGA-BG-A0M9-01 COSM1112606 c.699G>T p.R233S Substitution - Missense 23:106773127-106773127 + TCGA-EB-A41B-01 COSM3556383 c.545C>T p.S182F Substitution - Missense 23:106772973-106772973 + TCGA-AD-6548-01 COSM1464680 c.1273G>T p.E425* Substitution - Nonsense 23:106795699-106795699 + RK022_C01 COSM1636322 c.420G>A p.A140A Substitution - coding silent 23:106727333-106727333 + TCGA-FS-A1Z3-06 COSM3556382 c.108C>T p.S36S Substitution - coding silent 23:106727021-106727021 + YULONE COSM5411657 c.392A>G p.K131R Substitution - Missense 23:106727305-106727305 + ESCC_131 COSM5642319 c.262G>A p.D88N Substitution - Missense 23:106727175-106727175 + T3658 COSM4721971 c.26T>C p.V9A Substitution - Missense 23:106726939-106726939 + CCK81 COSM4620879 c.236C>A p.P79H Substitution - Missense 23:106727149-106727149 + TCGA-CK-4950-01 COSM1464672 c.54C>A p.S18S Substitution - coding silent 23:106726967-106726967 + LIM2551 COSM4644941 c.882G>A p.T294T Substitution - coding silent 23:106787995-106787995 + HCC90 COSM1625356 c.974T>C p.L325S Substitution - Missense 23:106790272-106790272 + TCGA-D3-A2JO-06 COSM3556391 c.704G>A p.R235Q Substitution - Missense 23:106773132-106773132 + T2269 COSM4721978 c.1237G>T p.E413* Substitution - Nonsense 23:106795663-106795663 + TCGA-EB-A44P-01 COSM3556389 c.641C>T p.S214F Substitution - Missense 23:106773069-106773069 + TARGET-30-PASTKC COSM1287651 c.393G>A p.K131K Substitution - coding silent 23:106727306-106727306 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.496542 Xq22.3 300439

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.N173H c.517A>C X 106016175 LUAD A G Missense p.D275G c.824A>G X 106031167 LUSC A G Missense p.D401G c.1202A>G X 106038858 GBM A G Synonymous p.T372T c.1116A>G X 106034427 OV C A IntronicSNV . c.485-17460C>A X 105998683 CLL C - Frameshift p.R152Afs*13 c.454delC X 105970595 RCCC C G Missense p.N408K c.1224C>G X 106038880 LUAD C G Missense p.P315R c.944C>G X 106033472 CM C T Missense p.A140V c.419C>T X 105970562 GBM C T Missense p.H300Y c.898C>T X 106033426 CM C T Missense p.S207L c.620C>T X 106016278 CM C T Synonymous p.S36S c.108C>T X 105970251 CM G A Missense p.E415K c.1243G>A X 106038899 CM G A Missense p.E68K c.202G>A X 105970345 CM G A Missense p.G266E c.797G>A X 106028359 CM G A Missense p.G69D c.206G>A X 105970349 GBM G A Missense p.R235Q c.704G>A X 106016362 CM G A Synonymous p.A140A c.420G>A X 105970563 HC G A Synonymous p.K131K c.393G>A X 105970536 NB G A Synonymous p.R235R c.705G>A X 106016363 CM GG TT Missense p.V391L c.1170_1171delinsTT X 106038826 SCLC G T IntronicSNV . c.732+1968G>T X 106018358 CLL G T Missense p.G365V c.1094G>T X 106034405 LUAD G T Synonymous p.A92A c.276G>T X 105970419 THCA T A IntronicSNV . c.984+289T>A X 106033801 CLL T C IntronicSNV . c.484+6442T>C X 105977069 CLL T C Missense p.V144A c.431T>C X 105970574 RCCC T C Synonymous p.H133H c.399T>C X 105970542 BLCA T - Frameshift p.F210Sfs*38 c.629delT X 106016281 HNSC - T Frameshift p.V211Rfs*42 c.629dupT X 106016281 THCA