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 3 121340603 121340603 + Silent SNP C C T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr3:121340603C>T c.327C>T c.(325-327)acC>acT p.T109T ACC 3 121341510 121341510 + Missense_Mutation SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr3:121341510G>A c.1234G>A c.(1234-1236)Gtc>Atc p.V412I BLCA 3 121341105 121341105 + Missense_Mutation SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 g.chr3:121341105G>A c.829G>A c.(829-831)Gac>Aac p.D277N BLCA 3 121341595 121341595 + Missense_Mutation SNP C C T TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr3:121341595C>T c.1319C>T c.(1318-1320)tCt>tTt p.S440F BLCA 3 121341630 121341630 + Missense_Mutation SNP C C T TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 g.chr3:121341630C>T c.1354C>T c.(1354-1356)Cca>Tca p.P452S BLCA 3 121342113 121342113 + Missense_Mutation SNP G G C TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr3:121342113G>C c.1837G>C c.(1837-1839)Gag>Cag p.E613Q BLCA 3 121345706 121345706 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr3:121345706G>A c.2079G>A c.(2077-2079)gaG>gaA p.E693E BLCA 3 121345737 121345737 + Nonsense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 g.chr3:121345737C>T c.2110C>T c.(2110-2112)Cga>Tga p.R704* BRCA 3 121340395 121340395 + Missense_Mutation SNP T T G TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 g.chr3:121340395T>G c.119T>G c.(118-120)cTg>cGg p.L40R BRCA 3 121341694 121341694 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:121341694C>G c.1418C>G c.(1417-1419)tCt>tGt p.S473C BRCA 3 121342188 121342188 + Missense_Mutation SNP G G A TCGA-AR-A1AU-01A-11D-A12Q-09 TCGA-AR-A1AU-10A-01D-A12Q-09 g.chr3:121342188G>A c.1912G>A c.(1912-1914)Gag>Aag p.E638K CESC 3 121340434 121340434 + Missense_Mutation SNP A A G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 g.chr3:121340434A>G c.158A>G c.(157-159)gAg>gGg p.E53G CESC 3 121340763 121340763 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr3:121340763G>A c.487G>A c.(487-489)Gaa>Aaa p.E163K CESC 3 121340784 121340784 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr3:121340784G>A c.508G>A c.(508-510)Gga>Aga p.G170R CESC 3 121345634 121345634 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:121345634C>G c.2007C>G c.(2005-2007)ttC>ttG p.F669L COAD 3 121340290 121340290 + Missense_Mutation SNP G G A TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr3:121340290G>A c.14G>A c.(13-15)cGc>cAc p.R5H COAD 3 121340508 121340508 + Missense_Mutation SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:121340508C>A c.232C>A c.(232-234)Cgc>Agc p.R78S COAD 3 121340510 121340510 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:121340510C>T c.234C>T c.(232-234)cgC>cgT p.R78R COAD 3 121340693 121340693 + Silent SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr3:121340693A>G c.417A>G c.(415-417)agA>agG p.R139R COAD 3 121340733 121340733 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:121340733G>A c.457G>A c.(457-459)Gct>Act p.A153T COAD 3 121340854 121340854 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr3:121340854C>T c.578C>T c.(577-579)gCa>gTa p.A193V COAD 3 121340958 121340958 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr3:121340958G>A c.682G>A c.(682-684)Gcc>Acc p.A228T COAD 3 121340972 121340972 + Silent SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:121340972A>C c.696A>C c.(694-696)acA>acC p.T232T COAD 3 121341410 121341410 + Silent SNP G G T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr3:121341410G>T c.1134G>T c.(1132-1134)gtG>gtT p.V378V COAD 3 121341452 121341452 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:121341452A>C c.1176A>C c.(1174-1176)aaA>aaC p.K392N COAD 3 121341480 121341480 + Missense_Mutation SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:121341480T>C c.1204T>C c.(1204-1206)Tgt>Cgt p.C402R COAD 3 121341579 121341579 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr3:121341579C>T c.1303C>T c.(1303-1305)Cca>Tca p.P435S COAD 3 121341633 121341633 + Missense_Mutation SNP G G T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:121341633G>T c.1357G>T c.(1357-1359)Ggg>Tgg p.G453W COAD 3 121341804 121341804 + Nonsense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:121341804C>T c.1528C>T c.(1528-1530)Cga>Tga p.R510* COAD 3 121341916 121341916 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:121341916C>T c.1640C>T c.(1639-1641)cCg>cTg p.P547L COAD 3 121345568 121345569 + Frame_Shift_Ins INS - - A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr3:121345568_121345569insA c.1941_1942insA c.(1942-1944)aaafs p.K648fs COAD 3 121345660 121345660 + Missense_Mutation SNP C C A TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr3:121345660C>A c.2033C>A c.(2032-2034)cCg>cAg p.P678Q COAD 3 121345660 121345660 + Missense_Mutation SNP C C A TCGA-CM-6169-01A-11D-1650-10 TCGA-CM-6169-10A-01D-1650-10 g.chr3:121345660C>A c.2033C>A c.(2032-2034)cCg>cAg p.P678Q COAD 3 121345661 121345661 + Silent SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr3:121345661G>A c.2034G>A c.(2032-2034)ccG>ccA p.P678P COAD 3 121345661 121345661 + Silent SNP G G A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr3:121345661G>A c.2034G>A c.(2032-2034)ccG>ccA p.P678P COAD 3 121345689 121345689 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:121345689C>T c.2062C>T c.(2062-2064)Cgt>Tgt p.R688C COAD 3 121345690 121345690 + Missense_Mutation SNP G G A TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr3:121345690G>A c.2063G>A c.(2062-2064)cGt>cAt p.R688H COAD 3 121345749 121345749 + Missense_Mutation SNP G G A TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr3:121345749G>A c.2122G>A c.(2122-2124)Gtc>Atc p.V708I COAD 3 121345749 121345749 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr3:121345749G>A c.2122G>A c.(2122-2124)Gtc>Atc p.V708I COADREAD 3 121340290 121340290 + Missense_Mutation SNP G G A TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr3:121340290G>A c.14G>A c.(13-15)cGc>cAc p.R5H COADREAD 3 121340299 121340299 + Missense_Mutation SNP C C T TCGA-AG-3909-01A-01W-1073-09 TCGA-AG-3909-10A-01W-1073-09 g.chr3:121340299C>T c.23C>T c.(22-24)cCg>cTg p.P8L COADREAD 3 121340337 121340337 + Missense_Mutation SNP C C A TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr3:121340337C>A c.61C>A c.(61-63)Cgc>Agc p.R21S COADREAD 3 121340508 121340508 + Missense_Mutation SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:121340508C>A c.232C>A c.(232-234)Cgc>Agc p.R78S COADREAD 3 121340510 121340510 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:121340510C>T c.234C>T c.(232-234)cgC>cgT p.R78R COADREAD 3 121340649 121340649 + Silent SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr3:121340649T>C c.373T>C c.(373-375)Ttg>Ctg p.L125L COADREAD 3 121340693 121340693 + Silent SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr3:121340693A>G c.417A>G c.(415-417)agA>agG p.R139R COADREAD 3 121340733 121340733 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:121340733G>A c.457G>A c.(457-459)Gct>Act p.A153T COADREAD 3 121340854 121340854 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr3:121340854C>T c.578C>T c.(577-579)gCa>gTa p.A193V COADREAD 3 121340958 121340958 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr3:121340958G>A c.682G>A c.(682-684)Gcc>Acc p.A228T COADREAD 3 121340972 121340972 + Silent SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:121340972A>C c.696A>C c.(694-696)acA>acC p.T232T COADREAD 3 121341005 121341005 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:121341005G>T c.729G>T c.(727-729)aaG>aaT p.K243N COADREAD 3 121341410 121341410 + Silent SNP G G T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr3:121341410G>T c.1134G>T c.(1132-1134)gtG>gtT p.V378V COADREAD 3 121341411 121341411 + Missense_Mutation SNP G G T TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr3:121341411G>T c.1135G>T c.(1135-1137)Gat>Tat p.D379Y COADREAD 3 121341452 121341452 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:121341452A>C c.1176A>C c.(1174-1176)aaA>aaC p.K392N COADREAD 3 121341480 121341480 + Missense_Mutation SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:121341480T>C c.1204T>C c.(1204-1206)Tgt>Cgt p.C402R COADREAD 3 121341579 121341579 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr3:121341579C>T c.1303C>T c.(1303-1305)Cca>Tca p.P435S COADREAD 3 121341633 121341633 + Missense_Mutation SNP G G T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:121341633G>T c.1357G>T c.(1357-1359)Ggg>Tgg p.G453W COADREAD 3 121341804 121341804 + Nonsense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:121341804C>T c.1528C>T c.(1528-1530)Cga>Tga p.R510* COADREAD 3 121341916 121341916 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:121341916C>T c.1640C>T c.(1639-1641)cCg>cTg p.P547L COADREAD 3 121345568 121345569 + Frame_Shift_Ins INS - - A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr3:121345568_121345569insA c.1941_1942insA c.(1942-1944)aaafs p.K648fs COADREAD 3 121345659 121345659 + Missense_Mutation SNP C C A TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr3:121345659C>A c.2032C>A c.(2032-2034)Ccg>Acg p.P678T COADREAD 3 121345660 121345660 + Missense_Mutation SNP C C A TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr3:121345660C>A c.2033C>A c.(2032-2034)cCg>cAg p.P678Q COADREAD 3 121345660 121345660 + Missense_Mutation SNP C C A TCGA-CM-6169-01A-11D-1650-10 TCGA-CM-6169-10A-01D-1650-10 g.chr3:121345660C>A c.2033C>A c.(2032-2034)cCg>cAg p.P678Q COADREAD 3 121345661 121345661 + Silent SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr3:121345661G>A c.2034G>A c.(2032-2034)ccG>ccA p.P678P COADREAD 3 121345661 121345661 + Silent SNP G G A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr3:121345661G>A c.2034G>A c.(2032-2034)ccG>ccA p.P678P COADREAD 3 121345689 121345689 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:121345689C>T c.2062C>T c.(2062-2064)Cgt>Tgt p.R688C COADREAD 3 121345690 121345690 + Missense_Mutation SNP G G A TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr3:121345690G>A c.2063G>A c.(2062-2064)cGt>cAt p.R688H COADREAD 3 121345749 121345749 + Missense_Mutation SNP G G A TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr3:121345749G>A c.2122G>A c.(2122-2124)Gtc>Atc p.V708I COADREAD 3 121345749 121345749 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr3:121345749G>A c.2122G>A c.(2122-2124)Gtc>Atc p.V708I DLBC 3 121341019 121341019 + Missense_Mutation SNP A A T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr3:121341019A>T c.743A>T c.(742-744)aAa>aTa p.K248I ESCA 3 121340592 121340592 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr3:121340592G>T c.316G>T c.(316-318)Gac>Tac p.D106Y ESCA 3 121341286 121341286 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr3:121341286G>T c.1010G>T c.(1009-1011)gGc>gTc p.G337V GBMLGG 3 121340407 121340407 + Missense_Mutation SNP C C G TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 g.chr3:121340407C>G c.131C>G c.(130-132)gCc>gGc p.A44G GBMLGG 3 121340550 121340550 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:121340550G>A c.274G>A c.(274-276)Gtg>Atg p.V92M GBMLGG 3 121341567 121341567 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:121341567T>A c.1291T>A c.(1291-1293)Tac>Aac p.Y431N HNSC 3 121340297 121340297 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr3:121340297C>A c.21C>A c.(19-21)tcC>tcA p.S7S HNSC 3 121340390 121340390 + Frame_Shift_Del DEL C C - TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr3:121340390delC c.114delC c.(112-114)tgcfs p.C38fs HNSC 3 121340544 121340544 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 g.chr3:121340544G>A c.268G>A c.(268-270)Gcc>Acc p.A90T HNSC 3 121340738 121340738 + Silent SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 g.chr3:121340738T>C c.462T>C c.(460-462)acT>acC p.T154T HNSC 3 121341500 121341500 + Silent SNP C C G TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr3:121341500C>G c.1224C>G c.(1222-1224)ctC>ctG p.L408L HNSC 3 121341555 121341555 + Missense_Mutation SNP G G C TCGA-CV-A463-01A-11D-A25Y-08 TCGA-CV-A463-10A-01D-A25Y-08 g.chr3:121341555G>C c.1279G>C c.(1279-1281)Gcc>Ccc p.A427P HNSC 3 121342100 121342100 + Silent SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 g.chr3:121342100C>A c.1824C>A c.(1822-1824)gcC>gcA p.A608A HNSC 3 121345686 121345686 + Missense_Mutation SNP C C A TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chr3:121345686C>A c.2059C>A c.(2059-2061)Ccc>Acc p.P687T KIPAN 3 121340772 121340772 + Missense_Mutation SNP G G T TCGA-BP-5175-01A-01D-1429-08 TCGA-BP-5175-11A-01D-1429-08 g.chr3:121340772G>T c.496G>T c.(496-498)Gtg>Ttg p.V166L KIRC 3 121340772 121340772 + Missense_Mutation SNP G G T TCGA-BP-5175-01A-01D-1429-08 TCGA-BP-5175-11A-01D-1429-08 g.chr3:121340772G>T c.496G>T c.(496-498)Gtg>Ttg p.V166L LGG 3 121340407 121340407 + Missense_Mutation SNP C C G TCGA-HT-7605-01A-11D-2086-08 TCGA-HT-7605-10A-01D-2086-08 g.chr3:121340407C>G c.131C>G c.(130-132)gCc>gGc p.A44G LGG 3 121340550 121340550 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:121340550G>A c.274G>A c.(274-276)Gtg>Atg p.V92M LGG 3 121341567 121341567 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:121341567T>A c.1291T>A c.(1291-1293)Tac>Aac p.Y431N LIHC 3 121341447 121341447 + Missense_Mutation SNP C C G TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr3:121341447C>G c.1171C>G c.(1171-1173)Ccc>Gcc p.P391A LIHC 3 121341494 121341494 + Silent SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr3:121341494A>G c.1218A>G c.(1216-1218)agA>agG p.R406R LUAD 3 121340501 121340501 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr3:121340501C>A c.225C>A c.(223-225)tcC>tcA p.S75S LUAD 3 121340502 121340502 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr3:121340502A>T c.226A>T c.(226-228)Atg>Ttg p.M76L LUAD 3 121340541 121340541 + Missense_Mutation SNP C C A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr3:121340541C>A c.265C>A c.(265-267)Ccc>Acc p.P89T LUAD 3 121340549 121340549 + Missense_Mutation SNP C C G TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr3:121340549C>G c.273C>G c.(271-273)agC>agG p.S91R LUAD 3 121341054 121341054 + Nonsense_Mutation SNP G G T TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr3:121341054G>T c.778G>T c.(778-780)Gga>Tga p.G260* LUAD 3 121341065 121341065 + Silent SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr3:121341065T>C c.789T>C c.(787-789)gcT>gcC p.A263A LUAD 3 121341270 121341270 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr3:121341270A>G c.994A>G c.(994-996)Aga>Gga p.R332G LUAD 3 121341392 121341392 + Silent SNP A A T TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr3:121341392A>T c.1116A>T c.(1114-1116)ccA>ccT p.P372P LUAD 3 121341476 121341476 + Silent SNP C C A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr3:121341476C>A c.1200C>A c.(1198-1200)ctC>ctA p.L400L LUAD 3 121341582 121341582 + Nonsense_Mutation SNP G G T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr3:121341582G>T c.1306G>T c.(1306-1308)Gaa>Taa p.E436* LUAD 3 121341645 121341645 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr3:121341645G>C c.1369G>C c.(1369-1371)Gtg>Ctg p.V457L LUAD 3 121341659 121341659 + Missense_Mutation SNP C C A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 g.chr3:121341659C>A c.1383C>A c.(1381-1383)agC>agA p.S461R LUSC 3 121340300 121340300 + Silent SNP G G T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 g.chr3:121340300G>T c.24G>T c.(22-24)ccG>ccT p.P8P LUSC 3 121340661 121340661 + Silent SNP C C T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr3:121340661C>T c.385C>T c.(385-387)Ctg>Ttg p.L129L LUSC 3 121340752 121340752 + Missense_Mutation SNP C C A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr3:121340752C>A c.476C>A c.(475-477)aCt>aAt p.T159N LUSC 3 121341598 121341598 + Missense_Mutation SNP G G T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr3:121341598G>T c.1322G>T c.(1321-1323)gGg>gTg p.G441V LUSC 3 121341801 121341801 + Missense_Mutation SNP C C A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr3:121341801C>A c.1525C>A c.(1525-1527)Cat>Aat p.H509N LUSC 3 121345583 121345583 + Missense_Mutation SNP G G T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr3:121345583G>T c.1956G>T c.(1954-1956)tgG>tgT p.W652C OV 3 121341365 121341365 + Silent SNP T T C TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 g.chr3:121341365T>C c.1089T>C c.(1087-1089)ctT>ctC p.L363L OV 3 121341495 121341495 + Nonsense_Mutation SNP G G T TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 g.chr3:121341495G>T c.1219G>T c.(1219-1221)Gaa>Taa p.E407* OV 3 121345659 121345659 + Missense_Mutation SNP C C A TCGA-24-1423-01A-01W-0545-08 TCGA-24-1423-10A-01W-0545-08 g.chr3:121345659C>A c.2032C>A c.(2032-2034)Ccg>Acg p.P678T PAAD 3 121340995 121340995 + Missense_Mutation SNP G G A TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr3:121340995G>A c.719G>A c.(718-720)aGc>aAc p.S240N PAAD 3 121341856 121341856 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:121341856C>T c.1580C>T c.(1579-1581)cCc>cTc p.P527L PAAD 3 121341863 121341863 + Silent SNP G G A TCGA-3A-A9IB-01A-21D-A397-08 TCGA-3A-A9IB-10A-01D-A39A-08 g.chr3:121341863G>A c.1587G>A c.(1585-1587)ggG>ggA p.G529G PAAD 3 121341875 121341875 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:121341875A>G c.1599A>G c.(1597-1599)aaA>aaG p.K533K PRAD 3 121345607 121345607 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:121345607G>A c.1980G>A c.(1978-1980)atG>atA p.M660I READ 3 121340299 121340299 + Missense_Mutation SNP C C T TCGA-AG-3909-01A-01W-1073-09 TCGA-AG-3909-10A-01W-1073-09 g.chr3:121340299C>T c.23C>T c.(22-24)cCg>cTg p.P8L READ 3 121340337 121340337 + Missense_Mutation SNP C C A TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr3:121340337C>A c.61C>A c.(61-63)Cgc>Agc p.R21S READ 3 121340649 121340649 + Silent SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr3:121340649T>C c.373T>C c.(373-375)Ttg>Ctg p.L125L READ 3 121341005 121341005 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:121341005G>T c.729G>T c.(727-729)aaG>aaT p.K243N READ 3 121341411 121341411 + Missense_Mutation SNP G G T TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr3:121341411G>T c.1135G>T c.(1135-1137)Gat>Tat p.D379Y READ 3 121345659 121345659 + Missense_Mutation SNP C C A TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr3:121345659C>A c.2032C>A c.(2032-2034)Ccg>Acg p.P678T SARC 3 121340681 121340681 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr3:121340681G>A c.405G>A c.(403-405)aaG>aaA p.K135K SARC 3 121340749 121340749 + Missense_Mutation SNP C C A TCGA-DX-A8BT-01A-11D-A37C-09 TCGA-DX-A8BT-10A-01D-A37F-09 g.chr3:121340749C>A c.473C>A c.(472-474)cCa>cAa p.P158Q SKCM 3 121340282 121340282 + Silent SNP G G A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 g.chr3:121340282G>A c.6G>A c.(4-6)ggG>ggA p.G2G SKCM 3 121340282 121340282 + Silent SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr3:121340282G>A c.6G>A c.(4-6)ggG>ggA p.G2G SKCM 3 121340369 121340369 + Silent SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr3:121340369C>T c.93C>T c.(91-93)acC>acT p.T31T SKCM 3 121340447 121340447 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:121340447C>T c.171C>T c.(169-171)ctC>ctT p.L57L SKCM 3 121340479 121340479 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr3:121340479C>T c.203C>T c.(202-204)tCc>tTc p.S68F SKCM 3 121340543 121340543 + Silent SNP C C T TCGA-D3-A5GR-06A-11D-A27K-08 TCGA-D3-A5GR-10A-01D-A27N-08 g.chr3:121340543C>T c.267C>T c.(265-267)ccC>ccT p.P89P SKCM 3 121340573 121340573 + Nonsense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr3:121340573G>A c.297G>A c.(295-297)tgG>tgA p.W99* SKCM 3 121340586 121340586 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:121340586A>C c.310A>C c.(310-312)Aat>Cat p.N104H SKCM 3 121340598 121340598 + Missense_Mutation SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr3:121340598G>A c.322G>A c.(322-324)Gaa>Aaa p.E108K SKCM 3 121340651 121340651 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr3:121340651G>A c.375G>A c.(373-375)ttG>ttA p.L125L SKCM 3 121340659 121340659 + Missense_Mutation SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr3:121340659C>T c.383C>T c.(382-384)gCc>gTc p.A128V SKCM 3 121340695 121340695 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr3:121340695C>T c.419C>T c.(418-420)tCc>tTc p.S140F SKCM 3 121340705 121340705 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:121340705G>A c.429G>A c.(427-429)atG>atA p.M143I SKCM 3 121340778 121340778 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:121340778G>A c.502G>A c.(502-504)Gaa>Aaa p.E168K SKCM 3 121340788 121340788 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:121340788G>A c.512G>A c.(511-513)gGa>gAa p.G171E SKCM 3 121340805 121340805 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr3:121340805G>A c.529G>A c.(529-531)Gat>Aat p.D177N SKCM 3 121340811 121340811 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr3:121340811G>A c.535G>A c.(535-537)Ggt>Agt p.G179S SKCM 3 121341031 121341031 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr3:121341031C>T c.755C>T c.(754-756)tCc>tTc p.S252F SKCM 3 121341093 121341093 + Nonsense_Mutation SNP C C T TCGA-D3-A5GR-06A-11D-A27K-08 TCGA-D3-A5GR-10A-01D-A27N-08 g.chr3:121341093C>T c.817C>T c.(817-819)Cag>Tag p.Q273* SKCM 3 121341093 121341093 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:121341093C>T c.817C>T c.(817-819)Cag>Tag p.Q273* SKCM 3 121341139 121341139 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:121341139C>T c.863C>T c.(862-864)gCc>gTc p.A288V SKCM 3 121341140 121341140 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:121341140C>T c.864C>T c.(862-864)gcC>gcT p.A288A SKCM 3 121341214 121341214 + Missense_Mutation SNP A A C TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr3:121341214A>C c.938A>C c.(937-939)cAc>cCc p.H313P SKCM 3 121341303 121341303 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr3:121341303G>A c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K SKCM 3 121341342 121341342 + Missense_Mutation SNP T T C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 g.chr3:121341342T>C c.1066T>C c.(1066-1068)Tac>Cac p.Y356H SKCM 3 121341537 121341537 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr3:121341537G>A c.1261G>A c.(1261-1263)Gga>Aga p.G421R SKCM 3 121341549 121341549 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:121341549G>A c.1273G>A c.(1273-1275)Gat>Aat p.D425N SKCM 3 121341592 121341592 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:121341592C>T c.1316C>T c.(1315-1317)tCc>tTc p.S439F SKCM 3 121341642 121341642 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr3:121341642C>T c.1366C>T c.(1366-1368)Cac>Tac p.H456Y SKCM 3 121341642 121341642 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:121341642C>T c.1366C>T c.(1366-1368)Cac>Tac p.H456Y SKCM 3 121341728 121341728 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:121341728G>C c.1452G>C c.(1450-1452)agG>agC p.R484S SKCM 3 121341740 121341740 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr3:121341740C>T c.1464C>T c.(1462-1464)ttC>ttT p.F488F SKCM 3 121341742 121341742 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr3:121341742C>T c.1466C>T c.(1465-1467)cCc>cTc p.P489L SKCM 3 121341815 121341815 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:121341815C>T c.1539C>T c.(1537-1539)ctC>ctT p.L513L SKCM 3 121341852 121341852 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:121341852C>T c.1576C>T c.(1576-1578)Cgt>Tgt p.R526C SKCM 3 121341969 121341969 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 g.chr3:121341969C>T c.1693C>T c.(1693-1695)Cat>Tat p.H565Y SKCM 3 121341976 121341976 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:121341976G>A c.1700G>A c.(1699-1701)gGa>gAa p.G567E SKCM 3 121342087 121342087 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr3:121342087G>A c.1811G>A c.(1810-1812)aGg>aAg p.R604K SKCM 3 121342139 121342139 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 g.chr3:121342139G>A c.1863G>A c.(1861-1863)tgG>tgA p.W621* SKCM 3 121342150 121342150 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr3:121342150G>A c.1874G>A c.(1873-1875)aGg>aAg p.R625K SKCM 3 121342188 121342188 + Missense_Mutation SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr3:121342188G>A c.1912G>A c.(1912-1914)Gag>Aag p.E638K SKCM 3 121345629 121345629 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr3:121345629C>T c.2002C>T c.(2002-2004)Cct>Tct p.P668S SKCM 3 121345646 121345646 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:121345646G>A c.2019G>A c.(2017-2019)gaG>gaA p.E673E SKCM 3 121345715 121345715 + Silent SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 g.chr3:121345715C>T c.2088C>T c.(2086-2088)gtC>gtT p.V696V

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 3 121340856 121340856 single base substitution G C missense_variant E194Q 580G>C BLCA-CN 3 121345687 121345687 single base substitution C T missense_variant P687L 2060C>T BLCA-US 3 121341105 121341105 single base substitution G A missense_variant D277N 829G>A BLCA-US 3 121345737 121345737 single base substitution C T stop_gained R704* 2110C>T BRCA-EU 3 121307080 121307080 single base substitution C T upstream_gene_variant BRCA-EU 3 121308432 121308432 single base substitution A G upstream_gene_variant BRCA-EU 3 121308486 121308486 single base substitution G A upstream_gene_variant BRCA-EU 3 121309694 121309694 single base substitution G A upstream_gene_variant BRCA-EU 3 121309732 121309732 single base substitution C T upstream_gene_variant BRCA-EU 3 121310146 121310146 single base substitution T C upstream_gene_variant BRCA-EU 3 121311160 121311160 single base substitution C A upstream_gene_variant BRCA-EU 3 121311239 121311239 single base substitution C G upstream_gene_variant BRCA-EU 3 121311321 121311321 single base substitution G A upstream_gene_variant BRCA-EU 3 121313462 121313462 single base substitution T A intron_variant BRCA-EU 3 121315177 121315177 single base substitution G C intron_variant BRCA-EU 3 121315969 121315969 single base substitution G A intron_variant BRCA-EU 3 121316010 121316010 single base substitution G C intron_variant BRCA-EU 3 121317510 121317510 single base substitution G A intron_variant BRCA-EU 3 121321848 121321848 single base substitution A C intron_variant BRCA-EU 3 121321964 121321964 single base substitution G C intron_variant BRCA-EU 3 121322870 121322870 single base substitution C T intron_variant BRCA-EU 3 121322887 121322887 single base substitution G C intron_variant BRCA-EU 3 121323044 121323044 single base substitution C A intron_variant BRCA-EU 3 121323361 121323361 single base substitution G A intron_variant BRCA-EU 3 121324703 121324703 single base substitution G A intron_variant BRCA-EU 3 121325797 121325797 single base substitution G C intron_variant BRCA-EU 3 121326301 121326301 single base substitution C T intron_variant BRCA-EU 3 121326317 121326317 single base substitution C G intron_variant BRCA-EU 3 121328416 121328416 single base substitution G A intron_variant BRCA-EU 3 121328904 121328904 single base substitution C T intron_variant BRCA-EU 3 121328916 121328916 single base substitution T C intron_variant BRCA-EU 3 121329086 121329086 single base substitution T C intron_variant BRCA-EU 3 121330093 121330093 single base substitution C A intron_variant BRCA-EU 3 121333337 121333337 single base substitution C T intron_variant BRCA-EU 3 121333394 121333394 single base substitution G A intron_variant BRCA-EU 3 121334123 121334123 single base substitution G C intron_variant BRCA-EU 3 121334772 121334772 single base substitution C T intron_variant BRCA-EU 3 121335847 121335847 single base substitution G A intron_variant BRCA-EU 3 121337531 121337531 single base substitution C G intron_variant BRCA-EU 3 121337698 121337698 single base substitution C A intron_variant BRCA-EU 3 121337965 121337965 single base substitution C G intron_variant BRCA-EU 3 121340264 121340264 single base substitution T G intron_variant BRCA-EU 3 121340392 121340392 single base substitution A G missense_variant H39R 116A>G BRCA-EU 3 121343126 121343126 single base substitution T C intron_variant BRCA-EU 3 121343751 121343751 single base substitution C T intron_variant BRCA-EU 3 121344452 121344452 single base substitution C T intron_variant BRCA-EU 3 121344522 121344522 single base substitution A G intron_variant BRCA-EU 3 121344676 121344676 single base substitution C A intron_variant BRCA-EU 3 121344804 121344804 single base substitution G A intron_variant BRCA-EU 3 121345364 121345364 single base substitution G T intron_variant BRCA-EU 3 121346180 121346180 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 121347465 121347465 single base substitution T A 3_prime_UTR_variant BRCA-EU 3 121348549 121348549 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 121348671 121348671 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 121349851 121349851 single base substitution G A downstream_gene_variant BRCA-EU 3 121350024 121350024 single base substitution G A downstream_gene_variant BRCA-EU 3 121350756 121350756 single base substitution C T downstream_gene_variant BRCA-EU 3 121352091 121352091 single base substitution C G downstream_gene_variant BRCA-EU 3 121352971 121352971 single base substitution T C downstream_gene_variant BRCA-FR 3 121310927 121310927 single base substitution G T upstream_gene_variant BRCA-FR 3 121313462 121313462 single base substitution T A intron_variant BRCA-FR 3 121315969 121315969 single base substitution G A intron_variant BRCA-FR 3 121316010 121316010 single base substitution G C intron_variant BRCA-FR 3 121333400 121333400 single base substitution C T intron_variant BRCA-FR 3 121335847 121335847 single base substitution G A intron_variant BRCA-FR 3 121337698 121337698 single base substitution C A intron_variant BRCA-FR 3 121344522 121344522 single base substitution A G intron_variant BRCA-FR 3 121344676 121344676 single base substitution C A intron_variant BRCA-FR 3 121344804 121344804 single base substitution G A intron_variant BRCA-UK 3 121341648 121341648 single base substitution G C missense_variant E458Q 1372G>C BRCA-UK 3 121344452 121344452 single base substitution C T intron_variant BRCA-US 3 121340395 121340395 single base substitution T G missense_variant L40R 119T>G BRCA-US 3 121341694 121341694 single base substitution C G missense_variant S473C 1418C>G BRCA-US 3 121342188 121342188 single base substitution G A missense_variant E638K 1912G>A BTCA-JP 3 121340658 121340658 single base substitution G T missense_variant A128S 382G>T BTCA-JP 3 121341929 121341929 single base substitution A C synonymous_variant P551P 1653A>C BTCA-JP 3 121345710 121345710 single base substitution T G missense_variant L695V 2083T>G BTCA-JP 3 121353155 121353155 single base substitution G A downstream_gene_variant BTCA-JP 3 121353173 121353173 single base substitution C T downstream_gene_variant CESC-US 3 121340434 121340434 single base substitution A G missense_variant E53G 158A>G CESC-US 3 121340763 121340763 single base substitution G A missense_variant E163K 487G>A CESC-US 3 121340784 121340784 single base substitution G A missense_variant G170R 508G>A CESC-US 3 121345634 121345634 single base substitution C G missense_variant F669L 2007C>G CESC-US 3 121350298 121350298 single base substitution G T downstream_gene_variant CLLE-ES 3 121342915 121342915 single base substitution G A intron_variant COAD-US 3 121340290 121340290 single base substitution G A missense_variant R5H 14G>A COAD-US 3 121340733 121340733 single base substitution G A missense_variant A153T 457G>A COAD-US 3 121340958 121340958 single base substitution G A missense_variant A228T 682G>A COAD-US 3 121341410 121341410 single base substitution G T synonymous_variant V378V 1134G>T COAD-US 3 121341480 121341480 single base substitution T C missense_variant C402R 1204T>C COAD-US 3 121341633 121341633 single base substitution G T missense_variant G453W 1357G>T COAD-US 3 121341804 121341804 single base substitution C T stop_gained R510* 1528C>T COAD-US 3 121341916 121341916 single base substitution C T missense_variant P547L 1640C>T COAD-US 3 121345689 121345689 single base substitution C T missense_variant R688C 2062C>T COAD-US 3 121345749 121345749 single base substitution G A missense_variant V708I 2122G>A COAD-US 3 121350739 121350739 single base substitution C T downstream_gene_variant COAD-US 3 121350972 121350972 single base substitution C T downstream_gene_variant COAD-US 3 121351296 121351296 single base substitution C T downstream_gene_variant COAD-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA downstream_gene_variant COAD-US 3 121351315 121351315 single base substitution G A downstream_gene_variant COAD-US 3 121353083 121353083 single base substitution C T downstream_gene_variant COAD-US 3 121353133 121353133 single base substitution C T downstream_gene_variant COAD-US 3 121353135 121353135 single base substitution C T downstream_gene_variant COCA-CN 3 121341038 121341038 single base substitution C T synonymous_variant G254G 762C>T COCA-CN 3 121341645 121341645 single base substitution G A missense_variant V457M 1369G>A COCA-CN 3 121341740 121341740 single base substitution C A missense_variant F488L 1464C>A COCA-CN 3 121341816 121341816 single base substitution G A missense_variant A514T 1540G>A COCA-CN 3 121341876 121341876 single base substitution G T missense_variant V534L 1600G>T COCA-CN 3 121351480 121351480 single base substitution T C downstream_gene_variant COCA-CN 3 121353202 121353202 single base substitution C T downstream_gene_variant ESAD-UK 3 121308161 121308161 single base substitution A G upstream_gene_variant ESAD-UK 3 121308677 121308677 single base substitution T G upstream_gene_variant ESAD-UK 3 121309254 121309254 single base substitution G A upstream_gene_variant ESAD-UK 3 121310739 121310739 single base substitution T A upstream_gene_variant ESAD-UK 3 121311945 121311945 single base substitution C A upstream_gene_variant ESAD-UK 3 121312488 121312488 single base substitution G A intron_variant ESAD-UK 3 121316103 121316103 single base substitution A C intron_variant ESAD-UK 3 121318879 121318879 insertion of <=200bp - AT intron_variant ESAD-UK 3 121319911 121319911 single base substitution T G intron_variant ESAD-UK 3 121320221 121320221 single base substitution C T intron_variant ESAD-UK 3 121323558 121323558 single base substitution T C intron_variant ESAD-UK 3 121323810 121323810 deletion of <=200bp T - intron_variant ESAD-UK 3 121323815 121323821 deletion of <=200bp TTATTTA - intron_variant ESAD-UK 3 121323870 121323870 single base substitution A T intron_variant ESAD-UK 3 121323918 121323918 single base substitution C T intron_variant ESAD-UK 3 121326962 121326962 single base substitution T C intron_variant ESAD-UK 3 121327007 121327009 deletion of <=200bp TAA - intron_variant ESAD-UK 3 121327481 121327481 single base substitution T G intron_variant ESAD-UK 3 121327950 121327950 single base substitution G T intron_variant ESAD-UK 3 121328193 121328193 single base substitution C T intron_variant ESAD-UK 3 121329483 121329483 deletion of <=200bp T - intron_variant ESAD-UK 3 121330525 121330525 single base substitution C A intron_variant ESAD-UK 3 121331612 121331612 single base substitution G T intron_variant ESAD-UK 3 121331874 121331874 single base substitution G T intron_variant ESAD-UK 3 121332066 121332066 single base substitution C T intron_variant ESAD-UK 3 121332181 121332181 single base substitution G C intron_variant ESAD-UK 3 121332989 121332989 single base substitution C T intron_variant ESAD-UK 3 121336463 121336463 single base substitution T A intron_variant ESAD-UK 3 121339093 121339093 single base substitution A C intron_variant ESAD-UK 3 121339565 121339565 single base substitution G T intron_variant ESAD-UK 3 121340433 121340433 single base substitution G C missense_variant E53Q 157G>C ESAD-UK 3 121344463 121344463 single base substitution C T intron_variant ESAD-UK 3 121345426 121345426 single base substitution A C intron_variant ESAD-UK 3 121345907 121345907 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 121345959 121345959 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 121346941 121346941 single base substitution A G 3_prime_UTR_variant ESAD-UK 3 121347990 121347990 single base substitution G C 3_prime_UTR_variant ESAD-UK 3 121350694 121350694 single base substitution C T downstream_gene_variant ESAD-UK 3 121351016 121351016 single base substitution G A downstream_gene_variant ESAD-UK 3 121352665 121352665 single base substitution G A downstream_gene_variant ESAD-UK 3 121353203 121353203 single base substitution G A downstream_gene_variant ESAD-UK 3 121353616 121353616 single base substitution C T downstream_gene_variant ESAD-UK 3 121353805 121353805 single base substitution C T downstream_gene_variant ESCA-CN 3 121340717 121340717 single base substitution C T synonymous_variant F147F 441C>T GBM-US 3 121350755 121350755 single base substitution G A downstream_gene_variant GBM-US 3 121351248 121351248 single base substitution C T downstream_gene_variant KIRC-US 3 121340509 121340509 single base substitution G A missense_variant R78H 233G>A KIRC-US 3 121340772 121340772 single base substitution G T missense_variant V166L 496G>T KIRP-US 3 121340335 121340335 insertion of <=200bp - C frameshift_variant N20T? KIRP-US 3 121341915 121341915 single base substitution C T missense_variant P547S 1639C>T KIRP-US 3 121345735 121345735 single base substitution C T missense_variant P703L 2108C>T LAML-KR 3 121342787 121342787 single base substitution G A intron_variant LAML-KR 3 121342794 121342794 single base substitution C T intron_variant LAML-KR 3 121350573 121350573 single base substitution A G downstream_gene_variant LAML-KR 3 121351315 121351315 single base substitution G A downstream_gene_variant LGG-US 3 121340407 121340407 single base substitution C G missense_variant A44G 131C>G LGG-US 3 121351926 121351926 single base substitution C A downstream_gene_variant LICA-CN 3 121341201 121341201 single base substitution A G missense_variant M309V 925A>G LICA-CN 3 121345614 121345614 single base substitution C A missense_variant H663N 1987C>A LICA-CN 3 121351959 121351959 single base substitution C T downstream_gene_variant LICA-FR 3 121310804 121310804 single base substitution T A upstream_gene_variant LICA-FR 3 121334410 121334410 insertion of <=200bp - AAAAA intron_variant LIHC-US 3 121341432 121341432 single base substitution A T missense_variant T386S 1156A>T LIHC-US 3 121341447 121341447 single base substitution C G missense_variant P391A 1171C>G LINC-JP 3 121307156 121307156 single base substitution T A upstream_gene_variant LINC-JP 3 121307158 121307158 single base substitution C A upstream_gene_variant LINC-JP 3 121340225 121340225 single base substitution A G intron_variant LINC-JP 3 121340301 121340301 single base substitution C G missense_variant P9A 25C>G LINC-JP 3 121341938 121341938 single base substitution C T synonymous_variant S554S 1662C>T LINC-JP 3 121350293 121350293 single base substitution A T downstream_gene_variant LINC-JP 3 121351069 121351069 single base substitution T C downstream_gene_variant LINC-JP 3 121351316 121351316 insertion of <=200bp - GGCTCAGGCTCA downstream_gene_variant LIRI-JP 3 121307079 121307079 single base substitution C T upstream_gene_variant LIRI-JP 3 121307697 121307697 single base substitution T C upstream_gene_variant LIRI-JP 3 121308749 121308749 single base substitution A C upstream_gene_variant LIRI-JP 3 121312384 121312384 single base substitution G C intron_variant LIRI-JP 3 121313388 121313388 single base substitution C T intron_variant LIRI-JP 3 121313718 121313718 single base substitution T C intron_variant LIRI-JP 3 121314192 121314192 single base substitution A T intron_variant LIRI-JP 3 121318063 121318063 single base substitution C T intron_variant LIRI-JP 3 121318830 121318830 single base substitution A G intron_variant LIRI-JP 3 121320620 121320620 single base substitution C T intron_variant LIRI-JP 3 121322000 121322000 single base substitution G T intron_variant LIRI-JP 3 121322034 121322034 single base substitution A G intron_variant LIRI-JP 3 121322292 121322292 single base substitution A G intron_variant LIRI-JP 3 121322852 121322852 single base substitution A G intron_variant LIRI-JP 3 121329025 121329025 single base substitution C G intron_variant LIRI-JP 3 121330648 121330648 single base substitution C G intron_variant LIRI-JP 3 121331508 121331508 single base substitution A G intron_variant LIRI-JP 3 121331946 121331946 single base substitution G C intron_variant LIRI-JP 3 121332445 121332445 single base substitution C T intron_variant LIRI-JP 3 121333708 121333708 single base substitution G T intron_variant LIRI-JP 3 121333741 121333741 single base substitution G A intron_variant LIRI-JP 3 121335405 121335405 single base substitution A G intron_variant LIRI-JP 3 121343842 121343842 single base substitution A G intron_variant LIRI-JP 3 121347906 121347906 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 121348379 121348379 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 121348521 121348521 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 121348549 121348549 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 121352800 121352800 single base substitution T A downstream_gene_variant LIRI-JP 3 121353023 121353023 single base substitution G A downstream_gene_variant LUSC-KR 3 121308373 121308373 single base substitution G C upstream_gene_variant LUSC-KR 3 121308457 121308457 single base substitution A T upstream_gene_variant LUSC-KR 3 121309441 121309441 single base substitution G A upstream_gene_variant LUSC-KR 3 121311841 121311841 single base substitution T A upstream_gene_variant LUSC-KR 3 121311842 121311842 single base substitution C T upstream_gene_variant LUSC-KR 3 121311897 121311897 single base substitution C G upstream_gene_variant LUSC-KR 3 121314248 121314248 single base substitution C A intron_variant LUSC-KR 3 121315216 121315216 single base substitution T A intron_variant LUSC-KR 3 121315386 121315386 single base substitution C A intron_variant LUSC-KR 3 121316913 121316913 single base substitution G A intron_variant LUSC-KR 3 121318444 121318444 single base substitution G C intron_variant LUSC-KR 3 121318550 121318550 single base substitution C T intron_variant LUSC-KR 3 121318552 121318552 single base substitution C T intron_variant LUSC-KR 3 121318554 121318554 single base substitution T C intron_variant LUSC-KR 3 121323275 121323275 single base substitution A T intron_variant LUSC-KR 3 121325933 121325933 single base substitution G T intron_variant LUSC-KR 3 121326349 121326349 single base substitution G T intron_variant LUSC-KR 3 121328451 121328451 single base substitution T G intron_variant LUSC-KR 3 121328935 121328935 single base substitution C A intron_variant LUSC-KR 3 121333256 121333256 single base substitution C A intron_variant LUSC-KR 3 121336590 121336590 single base substitution T A intron_variant LUSC-KR 3 121336619 121336619 single base substitution G T intron_variant LUSC-KR 3 121337252 121337252 single base substitution G T intron_variant LUSC-KR 3 121340462 121340462 single base substitution G A synonymous_variant Q62Q 186G>A LUSC-KR 3 121340474 121340474 single base substitution C G synonymous_variant L66L 198C>G LUSC-KR 3 121343037 121343037 single base substitution T A intron_variant LUSC-KR 3 121343057 121343057 single base substitution G A intron_variant LUSC-KR 3 121345527 121345527 single base substitution T A intron_variant LUSC-KR 3 121346419 121346419 single base substitution C G 3_prime_UTR_variant LUSC-KR 3 121347769 121347769 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 121348952 121348952 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 121349848 121349848 single base substitution G A downstream_gene_variant LUSC-KR 3 121350451 121350451 single base substitution A C downstream_gene_variant LUSC-KR 3 121352254 121352254 single base substitution G A downstream_gene_variant LUSC-KR 3 121353218 121353218 single base substitution C G downstream_gene_variant LUSC-US 3 121340300 121340300 single base substitution G T synonymous_variant P8P 24G>T LUSC-US 3 121340661 121340661 single base substitution C T synonymous_variant L129L 385C>T LUSC-US 3 121340752 121340752 single base substitution C A missense_variant T159N 476C>A LUSC-US 3 121341598 121341598 single base substitution G T missense_variant G441V 1322G>T LUSC-US 3 121341801 121341801 single base substitution C A missense_variant H509N 1525C>A LUSC-US 3 121345583 121345583 single base substitution G T missense_variant W652C 1956G>T LUSC-US 3 121350949 121350949 single base substitution T A downstream_gene_variant LUSC-US 3 121351918 121351918 single base substitution G A downstream_gene_variant MALY-DE 3 121312335 121312337 deletion of <=200bp GCC - 5_prime_UTR_variant MALY-DE 3 121312340 121312340 insertion of <=200bp - GAATACT 5_prime_UTR_variant MALY-DE 3 121312762 121312762 single base substitution G C intron_variant MALY-DE 3 121312774 121312774 single base substitution A T intron_variant MALY-DE 3 121313647 121313647 single base substitution A C intron_variant MALY-DE 3 121314583 121314583 single base substitution T C intron_variant MALY-DE 3 121316550 121316550 single base substitution C T intron_variant MALY-DE 3 121328682 121328682 single base substitution G A intron_variant MALY-DE 3 121341101 121341101 single base substitution G A synonymous_variant Q275Q 825G>A MALY-DE 3 121344798 121344798 single base substitution C A intron_variant MALY-DE 3 121348834 121348834 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121307140 121307140 single base substitution C T upstream_gene_variant MELA-AU 3 121307141 121307141 single base substitution C T upstream_gene_variant MELA-AU 3 121307232 121307232 single base substitution G A upstream_gene_variant MELA-AU 3 121307283 121307283 single base substitution C T upstream_gene_variant MELA-AU 3 121307301 121307301 single base substitution G A upstream_gene_variant MELA-AU 3 121307376 121307376 single base substitution T A upstream_gene_variant MELA-AU 3 121307521 121307521 single base substitution G A upstream_gene_variant MELA-AU 3 121307545 121307545 single base substitution C T upstream_gene_variant MELA-AU 3 121307726 121307726 single base substitution G A upstream_gene_variant MELA-AU 3 121307889 121307889 single base substitution G C upstream_gene_variant MELA-AU 3 121307905 121307905 single base substitution C T upstream_gene_variant MELA-AU 3 121308026 121308026 single base substitution T A upstream_gene_variant MELA-AU 3 121308107 121308107 single base substitution G A upstream_gene_variant MELA-AU 3 121308133 121308133 single base substitution G A upstream_gene_variant MELA-AU 3 121308270 121308270 single base substitution C T upstream_gene_variant MELA-AU 3 121308278 121308278 single base substitution C T upstream_gene_variant MELA-AU 3 121308282 121308282 single base substitution C T upstream_gene_variant MELA-AU 3 121308327 121308327 single base substitution G A upstream_gene_variant MELA-AU 3 121308568 121308568 single base substitution G A upstream_gene_variant MELA-AU 3 121308594 121308594 single base substitution A C upstream_gene_variant MELA-AU 3 121308672 121308672 single base substitution A G upstream_gene_variant MELA-AU 3 121308701 121308701 single base substitution G A upstream_gene_variant MELA-AU 3 121308785 121308785 single base substitution G A upstream_gene_variant MELA-AU 3 121308948 121308948 single base substitution T C upstream_gene_variant MELA-AU 3 121309023 121309023 single base substitution A G upstream_gene_variant MELA-AU 3 121309222 121309222 single base substitution G A upstream_gene_variant MELA-AU 3 121309345 121309345 single base substitution C T upstream_gene_variant MELA-AU 3 121309491 121309491 single base substitution C T upstream_gene_variant MELA-AU 3 121309681 121309681 single base substitution G A upstream_gene_variant MELA-AU 3 121309766 121309766 single base substitution C T upstream_gene_variant MELA-AU 3 121309969 121309969 single base substitution G A upstream_gene_variant MELA-AU 3 121310108 121310108 single base substitution C T upstream_gene_variant MELA-AU 3 121310380 121310380 single base substitution G A upstream_gene_variant MELA-AU 3 121310431 121310431 single base substitution G A upstream_gene_variant MELA-AU 3 121310446 121310446 single base substitution G A upstream_gene_variant MELA-AU 3 121310506 121310506 single base substitution C T upstream_gene_variant MELA-AU 3 121310510 121310510 single base substitution C T upstream_gene_variant MELA-AU 3 121310645 121310645 single base substitution G A upstream_gene_variant MELA-AU 3 121310659 121310659 single base substitution G A upstream_gene_variant MELA-AU 3 121310660 121310660 single base substitution G A upstream_gene_variant MELA-AU 3 121310678 121310678 single base substitution G A upstream_gene_variant MELA-AU 3 121310698 121310698 single base substitution C T upstream_gene_variant MELA-AU 3 121310757 121310757 single base substitution G A upstream_gene_variant MELA-AU 3 121310796 121310796 single base substitution C T upstream_gene_variant MELA-AU 3 121310833 121310833 single base substitution T C upstream_gene_variant MELA-AU 3 121310996 121310996 single base substitution C T upstream_gene_variant MELA-AU 3 121311448 121311448 single base substitution G A upstream_gene_variant MELA-AU 3 121311598 121311598 single base substitution C T upstream_gene_variant MELA-AU 3 121311731 121311731 single base substitution C T upstream_gene_variant MELA-AU 3 121311788 121311788 single base substitution A G upstream_gene_variant MELA-AU 3 121311979 121311979 single base substitution G A 5_prime_UTR_variant MELA-AU 3 121312217 121312218 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 3 121312342 121312342 single base substitution C T 5_prime_UTR_variant MELA-AU 3 121312613 121312613 single base substitution G A intron_variant MELA-AU 3 121312793 121312793 single base substitution G A intron_variant MELA-AU 3 121312872 121312872 single base substitution C T intron_variant MELA-AU 3 121312953 121312953 single base substitution G A intron_variant MELA-AU 3 121313017 121313017 single base substitution G A intron_variant MELA-AU 3 121313088 121313088 single base substitution C T intron_variant MELA-AU 3 121313244 121313244 single base substitution C T intron_variant MELA-AU 3 121313344 121313344 single base substitution G A intron_variant MELA-AU 3 121313445 121313445 single base substitution C T intron_variant MELA-AU 3 121313700 121313700 single base substitution G A intron_variant MELA-AU 3 121313703 121313703 single base substitution T G intron_variant MELA-AU 3 121314093 121314093 single base substitution C T intron_variant MELA-AU 3 121314258 121314258 single base substitution C T intron_variant MELA-AU 3 121314386 121314386 single base substitution C T intron_variant MELA-AU 3 121314398 121314398 single base substitution G A intron_variant MELA-AU 3 121314475 121314475 single base substitution C T intron_variant MELA-AU 3 121314492 121314492 single base substitution G A intron_variant MELA-AU 3 121314515 121314515 single base substitution A C intron_variant MELA-AU 3 121314597 121314597 single base substitution C T intron_variant MELA-AU 3 121314788 121314788 single base substitution G A intron_variant MELA-AU 3 121314809 121314809 single base substitution C T intron_variant MELA-AU 3 121315303 121315303 single base substitution C T intron_variant MELA-AU 3 121315374 121315374 single base substitution A C intron_variant MELA-AU 3 121315391 121315391 single base substitution G A intron_variant MELA-AU 3 121315396 121315396 single base substitution C T intron_variant MELA-AU 3 121315474 121315474 single base substitution C T intron_variant MELA-AU 3 121315872 121315872 single base substitution C T intron_variant MELA-AU 3 121316022 121316022 single base substitution G T intron_variant MELA-AU 3 121316055 121316055 single base substitution A G intron_variant MELA-AU 3 121316222 121316222 single base substitution G A intron_variant MELA-AU 3 121316225 121316225 single base substitution G T intron_variant MELA-AU 3 121316227 121316227 single base substitution G T intron_variant MELA-AU 3 121316256 121316256 single base substitution G A intron_variant MELA-AU 3 121316288 121316288 single base substitution C T intron_variant MELA-AU 3 121316395 121316395 single base substitution G A intron_variant MELA-AU 3 121316453 121316453 single base substitution C T intron_variant MELA-AU 3 121316884 121316884 single base substitution G A intron_variant MELA-AU 3 121316927 121316927 single base substitution G A intron_variant MELA-AU 3 121317005 121317005 single base substitution G A intron_variant MELA-AU 3 121317063 121317063 single base substitution C A intron_variant MELA-AU 3 121317152 121317152 single base substitution C T intron_variant MELA-AU 3 121317325 121317325 single base substitution T C intron_variant MELA-AU 3 121317333 121317333 single base substitution A G intron_variant MELA-AU 3 121317350 121317350 single base substitution A G intron_variant MELA-AU 3 121317534 121317534 single base substitution A T intron_variant MELA-AU 3 121317703 121317703 single base substitution C T intron_variant MELA-AU 3 121317807 121317807 single base substitution G A intron_variant MELA-AU 3 121317962 121317962 single base substitution A G intron_variant MELA-AU 3 121317982 121317982 single base substitution G A intron_variant MELA-AU 3 121318024 121318024 single base substitution G A intron_variant MELA-AU 3 121318062 121318062 single base substitution C T intron_variant MELA-AU 3 121318081 121318081 single base substitution G A intron_variant MELA-AU 3 121318104 121318104 single base substitution C T intron_variant MELA-AU 3 121318118 121318118 single base substitution C T intron_variant MELA-AU 3 121318243 121318243 single base substitution A G intron_variant MELA-AU 3 121318303 121318303 single base substitution G A intron_variant MELA-AU 3 121318554 121318554 single base substitution T C intron_variant MELA-AU 3 121318571 121318571 single base substitution A T intron_variant MELA-AU 3 121318808 121318808 single base substitution G A intron_variant MELA-AU 3 121319193 121319193 single base substitution T G intron_variant MELA-AU 3 121319207 121319207 single base substitution C T intron_variant MELA-AU 3 121319208 121319208 single base substitution C T intron_variant MELA-AU 3 121319596 121319596 single base substitution G T intron_variant MELA-AU 3 121319674 121319674 single base substitution C T intron_variant MELA-AU 3 121319708 121319708 single base substitution G A intron_variant MELA-AU 3 121319840 121319840 single base substitution G A intron_variant MELA-AU 3 121319863 121319863 single base substitution T C intron_variant MELA-AU 3 121320023 121320023 single base substitution C T intron_variant MELA-AU 3 121320056 121320056 single base substitution C T intron_variant MELA-AU 3 121320057 121320057 single base substitution C T intron_variant MELA-AU 3 121320121 121320121 single base substitution C T intron_variant MELA-AU 3 121320396 121320396 single base substitution A G intron_variant MELA-AU 3 121320397 121320397 single base substitution G A intron_variant MELA-AU 3 121320640 121320640 single base substitution C T intron_variant MELA-AU 3 121320788 121320788 single base substitution C T intron_variant MELA-AU 3 121321046 121321046 single base substitution C T intron_variant MELA-AU 3 121321116 121321116 single base substitution C T intron_variant MELA-AU 3 121321178 121321178 single base substitution C T intron_variant MELA-AU 3 121321179 121321179 single base substitution C T intron_variant MELA-AU 3 121321314 121321314 single base substitution G A intron_variant MELA-AU 3 121321491 121321491 single base substitution C T intron_variant MELA-AU 3 121321639 121321639 single base substitution C T intron_variant MELA-AU 3 121321640 121321640 single base substitution C T intron_variant MELA-AU 3 121321734 121321734 single base substitution C T intron_variant MELA-AU 3 121321846 121321846 single base substitution G A intron_variant MELA-AU 3 121322629 121322629 single base substitution G A intron_variant MELA-AU 3 121322657 121322657 single base substitution C T intron_variant MELA-AU 3 121322688 121322688 single base substitution C T intron_variant MELA-AU 3 121322780 121322780 single base substitution C T intron_variant MELA-AU 3 121322786 121322786 single base substitution C T intron_variant MELA-AU 3 121322787 121322787 single base substitution G A intron_variant MELA-AU 3 121322834 121322834 single base substitution G A intron_variant MELA-AU 3 121322844 121322844 single base substitution C T intron_variant MELA-AU 3 121322851 121322851 single base substitution C T intron_variant MELA-AU 3 121322922 121322922 single base substitution C T intron_variant MELA-AU 3 121322957 121322957 single base substitution G A intron_variant MELA-AU 3 121323040 121323040 single base substitution G A intron_variant MELA-AU 3 121323345 121323345 single base substitution G A intron_variant MELA-AU 3 121323521 121323521 single base substitution C T intron_variant MELA-AU 3 121323765 121323765 single base substitution G A intron_variant MELA-AU 3 121323769 121323769 single base substitution A G intron_variant MELA-AU 3 121323771 121323771 single base substitution G A intron_variant MELA-AU 3 121323782 121323789 deletion of <=200bp TTTATTTA - intron_variant MELA-AU 3 121323850 121323850 single base substitution C T intron_variant MELA-AU 3 121324009 121324009 single base substitution C T intron_variant MELA-AU 3 121324104 121324104 single base substitution C T intron_variant MELA-AU 3 121324212 121324212 single base substitution G A intron_variant MELA-AU 3 121324341 121324341 single base substitution G A intron_variant MELA-AU 3 121324447 121324447 single base substitution C T intron_variant MELA-AU 3 121324510 121324510 single base substitution G A intron_variant MELA-AU 3 121324621 121324621 single base substitution G A intron_variant MELA-AU 3 121324784 121324784 single base substitution C T intron_variant MELA-AU 3 121324893 121324893 single base substitution C T intron_variant MELA-AU 3 121325036 121325036 single base substitution G A intron_variant MELA-AU 3 121325037 121325037 single base substitution G A intron_variant MELA-AU 3 121325319 121325319 single base substitution C T intron_variant MELA-AU 3 121325387 121325388 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 121325594 121325594 single base substitution G A intron_variant MELA-AU 3 121325659 121325659 single base substitution C T intron_variant MELA-AU 3 121325821 121325821 single base substitution T G intron_variant MELA-AU 3 121326187 121326187 single base substitution C T intron_variant MELA-AU 3 121326424 121326424 single base substitution G T intron_variant MELA-AU 3 121326480 121326480 single base substitution C T intron_variant MELA-AU 3 121326705 121326705 single base substitution G A intron_variant MELA-AU 3 121326715 121326715 single base substitution C T intron_variant MELA-AU 3 121326768 121326768 single base substitution G A intron_variant MELA-AU 3 121326882 121326882 single base substitution C T intron_variant MELA-AU 3 121326965 121326965 single base substitution G A intron_variant MELA-AU 3 121327037 121327037 single base substitution G A intron_variant MELA-AU 3 121327159 121327159 single base substitution C T intron_variant MELA-AU 3 121327190 121327190 single base substitution C T intron_variant MELA-AU 3 121327316 121327316 single base substitution C T intron_variant MELA-AU 3 121327324 121327324 single base substitution A G intron_variant MELA-AU 3 121327342 121327342 single base substitution C T intron_variant MELA-AU 3 121327444 121327444 single base substitution G A intron_variant MELA-AU 3 121327471 121327471 single base substitution C T intron_variant MELA-AU 3 121327501 121327501 single base substitution G A intron_variant MELA-AU 3 121327544 121327544 single base substitution C T intron_variant MELA-AU 3 121327757 121327757 single base substitution C T intron_variant MELA-AU 3 121327847 121327847 single base substitution C T intron_variant MELA-AU 3 121327973 121327973 single base substitution C T intron_variant MELA-AU 3 121328027 121328027 single base substitution T C intron_variant MELA-AU 3 121328106 121328106 single base substitution C T intron_variant MELA-AU 3 121328353 121328353 single base substitution C T intron_variant MELA-AU 3 121328417 121328417 single base substitution G A intron_variant MELA-AU 3 121328423 121328423 single base substitution G A intron_variant MELA-AU 3 121328554 121328554 single base substitution C T intron_variant MELA-AU 3 121328635 121328635 single base substitution G A intron_variant MELA-AU 3 121328651 121328651 single base substitution A G intron_variant MELA-AU 3 121328821 121328821 single base substitution G A intron_variant MELA-AU 3 121328993 121328993 single base substitution G A intron_variant MELA-AU 3 121329177 121329177 single base substitution C T intron_variant MELA-AU 3 121329203 121329203 single base substitution G A intron_variant MELA-AU 3 121329241 121329241 single base substitution G A intron_variant MELA-AU 3 121329340 121329340 single base substitution C T intron_variant MELA-AU 3 121329370 121329370 single base substitution C T intron_variant MELA-AU 3 121329437 121329437 single base substitution G A intron_variant MELA-AU 3 121329467 121329467 single base substitution C T intron_variant MELA-AU 3 121329501 121329501 single base substitution C T intron_variant MELA-AU 3 121329824 121329824 single base substitution G A intron_variant MELA-AU 3 121330004 121330004 single base substitution G A intron_variant MELA-AU 3 121330006 121330006 single base substitution G A intron_variant MELA-AU 3 121330067 121330067 single base substitution G A intron_variant MELA-AU 3 121330252 121330252 single base substitution G A intron_variant MELA-AU 3 121330335 121330335 single base substitution G A intron_variant MELA-AU 3 121330375 121330375 single base substitution G A intron_variant MELA-AU 3 121330535 121330535 single base substitution G A intron_variant MELA-AU 3 121330733 121330733 single base substitution C G intron_variant MELA-AU 3 121330990 121330990 single base substitution C T intron_variant MELA-AU 3 121331173 121331173 single base substitution G A intron_variant MELA-AU 3 121331282 121331282 single base substitution G A intron_variant MELA-AU 3 121331423 121331423 single base substitution C T intron_variant MELA-AU 3 121331590 121331590 single base substitution C T intron_variant MELA-AU 3 121331717 121331717 single base substitution C T intron_variant MELA-AU 3 121331825 121331825 single base substitution G A intron_variant MELA-AU 3 121332118 121332118 single base substitution C T intron_variant MELA-AU 3 121332132 121332132 single base substitution G T intron_variant MELA-AU 3 121332143 121332143 single base substitution G A intron_variant MELA-AU 3 121332296 121332296 single base substitution C T intron_variant MELA-AU 3 121332432 121332432 single base substitution C T intron_variant MELA-AU 3 121332435 121332435 single base substitution C T intron_variant MELA-AU 3 121332466 121332466 single base substitution C T intron_variant MELA-AU 3 121333104 121333104 single base substitution G A intron_variant MELA-AU 3 121333265 121333265 single base substitution G A intron_variant MELA-AU 3 121333476 121333476 single base substitution C T intron_variant MELA-AU 3 121333477 121333477 single base substitution C T intron_variant MELA-AU 3 121333526 121333526 single base substitution C T intron_variant MELA-AU 3 121333559 121333559 single base substitution C T intron_variant MELA-AU 3 121334894 121334894 single base substitution C T intron_variant MELA-AU 3 121334929 121334929 single base substitution C T intron_variant MELA-AU 3 121334952 121334952 single base substitution C T intron_variant MELA-AU 3 121335285 121335285 single base substitution G A intron_variant MELA-AU 3 121335307 121335307 single base substitution G A intron_variant MELA-AU 3 121335494 121335494 single base substitution G A intron_variant MELA-AU 3 121335577 121335577 single base substitution G A intron_variant MELA-AU 3 121335901 121335901 single base substitution G A intron_variant MELA-AU 3 121336411 121336411 single base substitution C T intron_variant MELA-AU 3 121336419 121336419 single base substitution G A intron_variant MELA-AU 3 121336619 121336619 single base substitution G T intron_variant MELA-AU 3 121336921 121336921 single base substitution C T intron_variant MELA-AU 3 121337012 121337012 single base substitution T A intron_variant MELA-AU 3 121337441 121337441 single base substitution C T intron_variant MELA-AU 3 121337687 121337687 single base substitution A G intron_variant MELA-AU 3 121337777 121337777 single base substitution T C intron_variant MELA-AU 3 121337788 121337788 single base substitution G A intron_variant MELA-AU 3 121338022 121338022 single base substitution C G intron_variant MELA-AU 3 121338084 121338084 single base substitution G A intron_variant MELA-AU 3 121338207 121338207 single base substitution C T intron_variant MELA-AU 3 121338284 121338284 single base substitution C T intron_variant MELA-AU 3 121338310 121338310 single base substitution C T intron_variant MELA-AU 3 121338380 121338380 single base substitution C T intron_variant MELA-AU 3 121338435 121338435 single base substitution T C intron_variant MELA-AU 3 121338803 121338803 single base substitution C T intron_variant MELA-AU 3 121338988 121338988 single base substitution G A intron_variant MELA-AU 3 121339171 121339171 single base substitution C T intron_variant MELA-AU 3 121339283 121339283 single base substitution A T intron_variant MELA-AU 3 121339293 121339293 single base substitution G A intron_variant MELA-AU 3 121339386 121339386 single base substitution C T splice_region_variant MELA-AU 3 121339631 121339631 single base substitution G A intron_variant MELA-AU 3 121339715 121339715 single base substitution G A intron_variant MELA-AU 3 121339755 121339755 single base substitution G A intron_variant MELA-AU 3 121339801 121339801 single base substitution C G intron_variant MELA-AU 3 121339897 121339897 single base substitution A G intron_variant MELA-AU 3 121339940 121339940 single base substitution G A intron_variant MELA-AU 3 121340098 121340098 single base substitution C T intron_variant MELA-AU 3 121340148 121340148 single base substitution C T intron_variant MELA-AU 3 121340157 121340157 single base substitution C T intron_variant MELA-AU 3 121340188 121340188 single base substitution G A intron_variant MELA-AU 3 121340427 121340427 single base substitution G A missense_variant E51K 151G>A MELA-AU 3 121340621 121340621 single base substitution C T synonymous_variant I115I 345C>T MELA-AU 3 121340624 121340624 single base substitution G A missense_variant M116I 348G>A MELA-AU 3 121340658 121340658 single base substitution G A missense_variant A128T 382G>A MELA-AU 3 121340701 121340701 single base substitution A T missense_variant K142I 425A>T MELA-AU 3 121340837 121340837 single base substitution A C synonymous_variant A187A 561A>C MELA-AU 3 121340898 121340898 single base substitution G A missense_variant E208K 622G>A MELA-AU 3 121341015 121341015 single base substitution G A missense_variant E247K 739G>A MELA-AU 3 121341074 121341074 single base substitution G A synonymous_variant K266K 798G>A MELA-AU 3 121341214 121341214 single base substitution A C missense_variant H313P 938A>C MELA-AU 3 121341448 121341448 single base substitution C T missense_variant P391L 1172C>T MELA-AU 3 121341636 121341636 single base substitution G A missense_variant G454R 1360G>A MELA-AU 3 121341732 121341732 single base substitution G A missense_variant D486N 1456G>A MELA-AU 3 121341741 121341741 single base substitution C T missense_variant P489S 1465C>T MELA-AU 3 121341907 121341907 single base substitution C T missense_variant A544V 1631C>T MELA-AU 3 121342327 121342327 single base substitution C T intron_variant MELA-AU 3 121342465 121342465 single base substitution C T intron_variant MELA-AU 3 121342557 121342557 single base substitution A C intron_variant MELA-AU 3 121342714 121342714 single base substitution T C intron_variant MELA-AU 3 121342773 121342773 single base substitution G A intron_variant MELA-AU 3 121342817 121342817 single base substitution G A intron_variant MELA-AU 3 121342929 121342929 single base substitution C T intron_variant MELA-AU 3 121343035 121343035 single base substitution C T intron_variant MELA-AU 3 121343057 121343057 single base substitution G A intron_variant MELA-AU 3 121343333 121343333 single base substitution C T intron_variant MELA-AU 3 121343342 121343342 single base substitution C T intron_variant MELA-AU 3 121343492 121343492 single base substitution C T intron_variant MELA-AU 3 121343786 121343786 single base substitution C T intron_variant MELA-AU 3 121344329 121344329 single base substitution C G intron_variant MELA-AU 3 121344433 121344433 single base substitution G A intron_variant MELA-AU 3 121344517 121344517 single base substitution C T intron_variant MELA-AU 3 121344648 121344648 single base substitution G A intron_variant MELA-AU 3 121344747 121344747 single base substitution A T intron_variant MELA-AU 3 121344894 121344894 single base substitution C T intron_variant MELA-AU 3 121344920 121344920 single base substitution G A intron_variant MELA-AU 3 121344998 121344998 single base substitution T C intron_variant MELA-AU 3 121345085 121345085 single base substitution T A intron_variant MELA-AU 3 121345098 121345098 single base substitution G A intron_variant MELA-AU 3 121345144 121345144 single base substitution C T intron_variant MELA-AU 3 121345367 121345367 single base substitution G A intron_variant MELA-AU 3 121345375 121345375 single base substitution G A intron_variant MELA-AU 3 121345465 121345465 single base substitution C T intron_variant MELA-AU 3 121345609 121345609 single base substitution C T missense_variant S661F 1982C>T MELA-AU 3 121345629 121345629 single base substitution C T missense_variant P668S 2002C>T MELA-AU 3 121345751 121345751 single base substitution C T synonymous_variant V708V 2124C>T MELA-AU 3 121345928 121345928 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121345973 121345973 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121346007 121346007 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121346069 121346069 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121346083 121346083 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121346175 121346175 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121346199 121346200 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 121346308 121346308 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121346601 121346601 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121346779 121346779 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121347043 121347044 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 121347257 121347257 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121347356 121347356 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121347371 121347371 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121347468 121347468 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121347469 121347469 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121347473 121347473 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121347562 121347562 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121347598 121347598 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121347653 121347653 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121347764 121347764 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121348035 121348035 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121348222 121348222 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121348223 121348223 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121348580 121348580 single base substitution G C 3_prime_UTR_variant MELA-AU 3 121348684 121348684 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121348782 121348782 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121349106 121349106 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121349423 121349423 single base substitution G A downstream_gene_variant MELA-AU 3 121349634 121349634 single base substitution G A downstream_gene_variant MELA-AU 3 121349931 121349931 single base substitution C T downstream_gene_variant MELA-AU 3 121350276 121350276 single base substitution G A downstream_gene_variant MELA-AU 3 121350377 121350377 single base substitution C T downstream_gene_variant MELA-AU 3 121350504 121350504 single base substitution G A downstream_gene_variant MELA-AU 3 121350578 121350578 single base substitution G A downstream_gene_variant MELA-AU 3 121350678 121350678 single base substitution G A downstream_gene_variant MELA-AU 3 121350773 121350774 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 121350806 121350806 single base substitution C T downstream_gene_variant MELA-AU 3 121350960 121350960 single base substitution C T downstream_gene_variant MELA-AU 3 121351015 121351015 single base substitution C T downstream_gene_variant MELA-AU 3 121351017 121351017 single base substitution G A downstream_gene_variant MELA-AU 3 121351018 121351018 single base substitution G A downstream_gene_variant MELA-AU 3 121351118 121351119 multiple base substitution (>=2bp and <=200bp) TC AT downstream_gene_variant MELA-AU 3 121351234 121351234 single base substitution C T downstream_gene_variant MELA-AU 3 121351450 121351450 single base substitution C T downstream_gene_variant MELA-AU 3 121351481 121351481 single base substitution C T downstream_gene_variant MELA-AU 3 121351484 121351484 single base substitution C T downstream_gene_variant MELA-AU 3 121351576 121351576 single base substitution C T downstream_gene_variant MELA-AU 3 121351657 121351657 single base substitution G A downstream_gene_variant MELA-AU 3 121352298 121352298 single base substitution T C downstream_gene_variant MELA-AU 3 121352354 121352354 single base substitution C T downstream_gene_variant MELA-AU 3 121352636 121352636 single base substitution C T downstream_gene_variant MELA-AU 3 121352657 121352657 single base substitution G A downstream_gene_variant MELA-AU 3 121352681 121352681 single base substitution C T downstream_gene_variant MELA-AU 3 121352754 121352754 single base substitution C T downstream_gene_variant MELA-AU 3 121352768 121352768 single base substitution C A downstream_gene_variant MELA-AU 3 121352972 121352972 single base substitution T A downstream_gene_variant MELA-AU 3 121353024 121353024 single base substitution G A downstream_gene_variant MELA-AU 3 121353159 121353159 single base substitution C T downstream_gene_variant MELA-AU 3 121353237 121353237 single base substitution C T downstream_gene_variant MELA-AU 3 121353336 121353336 single base substitution G A downstream_gene_variant MELA-AU 3 121353364 121353364 single base substitution G A downstream_gene_variant MELA-AU 3 121353402 121353402 single base substitution G A downstream_gene_variant MELA-AU 3 121353409 121353409 single base substitution G A downstream_gene_variant MELA-AU 3 121353415 121353415 single base substitution G A downstream_gene_variant MELA-AU 3 121353621 121353621 single base substitution G A downstream_gene_variant MELA-AU 3 121353761 121353761 single base substitution G A downstream_gene_variant MELA-AU 3 121353966 121353966 single base substitution C T downstream_gene_variant MELA-AU 3 121354000 121354000 single base substitution C T downstream_gene_variant MELA-AU 3 121354045 121354046 multiple base substitution (>=2bp and <=200bp) CT TC downstream_gene_variant ORCA-IN 3 121322312 121322312 single base substitution T A intron_variant ORCA-IN 3 121331819 121331819 insertion of <=200bp - G intron_variant ORCA-IN 3 121336582 121336582 single base substitution C T intron_variant ORCA-IN 3 121340991 121340991 single base substitution G C missense_variant E239Q 715G>C ORCA-IN 3 121353250 121353250 single base substitution C T downstream_gene_variant OV-AU 3 121306989 121306989 single base substitution A C upstream_gene_variant OV-AU 3 121313241 121313241 single base substitution T A intron_variant OV-AU 3 121328469 121328469 single base substitution T C intron_variant OV-AU 3 121341146 121341146 single base substitution G A stop_gained W290* 870G>A OV-AU 3 121344816 121344816 single base substitution G T intron_variant OV-AU 3 121345823 121345823 single base substitution G C 3_prime_UTR_variant OV-AU 3 121347964 121347964 single base substitution T C 3_prime_UTR_variant OV-AU 3 121352064 121352064 single base substitution A C downstream_gene_variant OV-US 3 121341495 121341495 single base substitution G T stop_gained E407* 1219G>T PACA-AU 3 121308262 121308262 single base substitution G A upstream_gene_variant PACA-AU 3 121317085 121317085 single base substitution G T intron_variant PACA-AU 3 121317086 121317086 single base substitution G T intron_variant PACA-AU 3 121318576 121318576 single base substitution T A intron_variant PACA-AU 3 121322400 121322400 single base substitution T C intron_variant PACA-AU 3 121323731 121323731 single base substitution T A intron_variant PACA-AU 3 121330532 121330532 single base substitution C T intron_variant PACA-AU 3 121333641 121333641 single base substitution C A intron_variant PACA-AU 3 121334791 121334791 single base substitution G T intron_variant PACA-AU 3 121336929 121336929 single base substitution C T intron_variant PACA-AU 3 121340078 121340078 single base substitution T A intron_variant PACA-AU 3 121340480 121340480 single base substitution C T synonymous_variant S68S 204C>T PACA-AU 3 121341359 121341359 single base substitution T A synonymous_variant A361A 1083T>A PACA-AU 3 121342469 121342488 deletion of <=200bp TTCCAAAAGTGCTGAAATTA - intron_variant PACA-AU 3 121348361 121348361 insertion of <=200bp - A 3_prime_UTR_variant PACA-AU 3 121349215 121349215 single base substitution G A downstream_gene_variant PACA-AU 3 121349603 121349603 single base substitution C G downstream_gene_variant PACA-CA 3 121310698 121310698 single base substitution C T upstream_gene_variant PACA-CA 3 121313895 121313895 single base substitution C G intron_variant PACA-CA 3 121314820 121314835 deletion of <=200bp TGCTGAGAGGGCCCCT - intron_variant PACA-CA 3 121321039 121321039 single base substitution C T intron_variant PACA-CA 3 121322634 121322634 single base substitution C T intron_variant PACA-CA 3 121323810 121323810 deletion of <=200bp T - intron_variant PACA-CA 3 121323815 121323821 deletion of <=200bp TTATTTA - intron_variant PACA-CA 3 121328372 121328372 single base substitution G A intron_variant PACA-CA 3 121334273 121334273 single base substitution C T intron_variant PACA-CA 3 121336165 121336165 single base substitution G A intron_variant PACA-CA 3 121336482 121336482 single base substitution G A intron_variant PACA-CA 3 121336771 121336771 single base substitution C T intron_variant PACA-CA 3 121337045 121337045 single base substitution A T intron_variant PACA-CA 3 121344289 121344289 single base substitution T C intron_variant PACA-CA 3 121346395 121346395 single base substitution G A 3_prime_UTR_variant PACA-CA 3 121348011 121348011 single base substitution A G 3_prime_UTR_variant PACA-CA 3 121350369 121350369 single base substitution C T downstream_gene_variant PACA-CA 3 121351261 121351261 single base substitution C G downstream_gene_variant PACA-CA 3 121351486 121351486 single base substitution G A downstream_gene_variant PACA-CA 3 121352020 121352020 single base substitution T A downstream_gene_variant PACA-CA 3 121352364 121352364 single base substitution C T downstream_gene_variant PACA-CA 3 121353235 121353235 single base substitution T G downstream_gene_variant PAEN-AU 3 121323782 121323789 deletion of <=200bp TTTATTTA - intron_variant PAEN-AU 3 121325296 121325296 single base substitution A G intron_variant PAEN-AU 3 121331013 121331013 single base substitution G A intron_variant PAEN-AU 3 121331309 121331309 single base substitution G A intron_variant PAEN-AU 3 121341456 121341456 single base substitution G T missense_variant D394Y 1180G>T PAEN-AU 3 121351083 121351084 deletion of <=200bp AG - downstream_gene_variant PAEN-IT 3 121329602 121329602 single base substitution C A intron_variant PBCA-DE 3 121313045 121313045 single base substitution A T intron_variant PBCA-DE 3 121328032 121328032 single base substitution C A intron_variant PBCA-DE 3 121336238 121336238 single base substitution C T intron_variant PBCA-DE 3 121336844 121336844 insertion of <=200bp - A intron_variant PBCA-DE 3 121339049 121339049 single base substitution A G intron_variant PBCA-DE 3 121341556 121341556 single base substitution C A missense_variant A427D 1280C>A PBCA-DE 3 121345041 121345041 deletion of <=200bp T - intron_variant PBCA-DE 3 121347998 121347998 single base substitution T C 3_prime_UTR_variant PBCA-DE 3 121349850 121349850 single base substitution C A downstream_gene_variant PBCA-DE 3 121352157 121352157 single base substitution G A downstream_gene_variant PBCA-DE 3 121353893 121353893 single base substitution C T downstream_gene_variant PRAD-CA 3 121307796 121307796 single base substitution C T upstream_gene_variant PRAD-CA 3 121316247 121316247 single base substitution A T intron_variant PRAD-CA 3 121316569 121316569 single base substitution C T intron_variant PRAD-CA 3 121318518 121318518 single base substitution C T intron_variant PRAD-UK 3 121308703 121308703 single base substitution T A upstream_gene_variant PRAD-UK 3 121308804 121308804 single base substitution C T upstream_gene_variant PRAD-UK 3 121320943 121320943 single base substitution G A intron_variant PRAD-UK 3 121327926 121327926 insertion of <=200bp - A intron_variant PRAD-UK 3 121330368 121330368 single base substitution C A intron_variant PRAD-UK 3 121335077 121335077 single base substitution C T intron_variant PRAD-UK 3 121340689 121340689 single base substitution T G missense_variant F138C 413T>G PRAD-UK 3 121353532 121353532 single base substitution G A downstream_gene_variant PRAD-UK 3 121353533 121353533 single base substitution C A downstream_gene_variant READ-US 3 121340711 121340711 single base substitution A T missense_variant E145D 435A>T READ-US 3 121341231 121341231 single base substitution A T missense_variant I319L 955A>T READ-US 3 121341411 121341411 single base substitution G T missense_variant D379Y 1135G>T READ-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA downstream_gene_variant READ-US 3 121351318 121351318 single base substitution C T downstream_gene_variant READ-US 3 121351328 121351328 insertion of <=200bp - GCTCAGGCTCAG downstream_gene_variant READ-US 3 121353237 121353237 single base substitution C T downstream_gene_variant RECA-EU 3 121308139 121308139 single base substitution T G upstream_gene_variant RECA-EU 3 121308393 121308393 single base substitution T C upstream_gene_variant RECA-EU 3 121317671 121317671 single base substitution A C intron_variant RECA-EU 3 121332241 121332241 single base substitution C A intron_variant RECA-EU 3 121333813 121333813 single base substitution T G intron_variant RECA-EU 3 121340300 121340300 single base substitution G A synonymous_variant P8P 24G>A SKCA-BR 3 121307609 121307610 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 3 121307774 121307774 single base substitution G T upstream_gene_variant SKCA-BR 3 121308679 121308679 single base substitution C T upstream_gene_variant SKCA-BR 3 121309773 121309773 single base substitution G A upstream_gene_variant SKCA-BR 3 121310204 121310204 single base substitution G A upstream_gene_variant SKCA-BR 3 121311161 121311161 single base substitution C T upstream_gene_variant SKCA-BR 3 121311189 121311189 single base substitution G T upstream_gene_variant SKCA-BR 3 121311439 121311439 single base substitution C T upstream_gene_variant SKCA-BR 3 121311920 121311928 deletion of <=200bp TCAGCACAG - upstream_gene_variant SKCA-BR 3 121313623 121313623 single base substitution A C intron_variant SKCA-BR 3 121314471 121314471 single base substitution G A intron_variant SKCA-BR 3 121316633 121316633 single base substitution C T intron_variant SKCA-BR 3 121316644 121316644 single base substitution G A intron_variant SKCA-BR 3 121318554 121318554 single base substitution T C intron_variant SKCA-BR 3 121318571 121318574 deletion of <=200bp ATTT - intron_variant SKCA-BR 3 121319489 121319489 single base substitution C T intron_variant SKCA-BR 3 121319635 121319635 single base substitution G A intron_variant SKCA-BR 3 121319678 121319678 single base substitution T C intron_variant SKCA-BR 3 121320788 121320788 single base substitution C T intron_variant SKCA-BR 3 121321745 121321745 single base substitution C T intron_variant SKCA-BR 3 121322132 121322132 single base substitution G A intron_variant SKCA-BR 3 121322384 121322384 single base substitution C A intron_variant SKCA-BR 3 121322546 121322546 single base substitution C T intron_variant SKCA-BR 3 121324535 121324535 single base substitution C T intron_variant SKCA-BR 3 121324618 121324618 single base substitution C T intron_variant SKCA-BR 3 121325184 121325184 single base substitution C T intron_variant SKCA-BR 3 121325319 121325319 single base substitution C T intron_variant SKCA-BR 3 121326477 121326477 single base substitution G A intron_variant SKCA-BR 3 121327762 121327762 single base substitution G A intron_variant SKCA-BR 3 121329258 121329258 single base substitution G A intron_variant SKCA-BR 3 121329782 121329782 single base substitution C T intron_variant SKCA-BR 3 121330439 121330439 single base substitution T C intron_variant SKCA-BR 3 121330743 121330743 single base substitution C T intron_variant SKCA-BR 3 121331918 121331918 insertion of <=200bp - GA intron_variant SKCA-BR 3 121332374 121332374 single base substitution A G intron_variant SKCA-BR 3 121334047 121334047 insertion of <=200bp - CA intron_variant SKCA-BR 3 121337400 121337400 insertion of <=200bp - AT intron_variant SKCA-BR 3 121337764 121337765 deletion of <=200bp CT - intron_variant SKCA-BR 3 121338586 121338586 single base substitution A T intron_variant SKCA-BR 3 121339774 121339774 single base substitution C T intron_variant SKCA-BR 3 121341026 121341026 single base substitution G A synonymous_variant Q250Q 750G>A SKCA-BR 3 121341658 121341658 single base substitution G A missense_variant S461N 1382G>A SKCA-BR 3 121341660 121341660 single base substitution G C missense_variant E462Q 1384G>C SKCA-BR 3 121343071 121343071 single base substitution A T intron_variant SKCA-BR 3 121343208 121343208 single base substitution G A intron_variant SKCA-BR 3 121344525 121344525 single base substitution C T intron_variant SKCA-BR 3 121345491 121345491 single base substitution C A intron_variant SKCA-BR 3 121345732 121345732 single base substitution G A missense_variant R702K 2105G>A SKCA-BR 3 121345835 121345835 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 121345847 121345847 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 121346003 121346003 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 121347016 121347016 insertion of <=200bp - CT 3_prime_UTR_variant SKCA-BR 3 121347044 121347044 single base substitution G T 3_prime_UTR_variant SKCA-BR 3 121348652 121348652 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 121350880 121350880 single base substitution T G downstream_gene_variant SKCA-BR 3 121353254 121353254 single base substitution T C downstream_gene_variant SKCM-US 3 121340282 121340282 single base substitution G A splice_region_variant SKCM-US 3 121340369 121340369 single base substitution C T synonymous_variant T31T 93C>T SKCM-US 3 121340447 121340447 single base substitution C T synonymous_variant L57L 171C>T SKCM-US 3 121340479 121340479 single base substitution C T missense_variant S68F 203C>T SKCM-US 3 121340500 121340500 single base substitution C T missense_variant S75F 224C>T SKCM-US 3 121340543 121340543 single base substitution C T synonymous_variant P89P 267C>T SKCM-US 3 121340573 121340573 single base substitution G A stop_gained W99* 297G>A SKCM-US 3 121340586 121340586 single base substitution A C missense_variant N104H 310A>C SKCM-US 3 121340598 121340598 single base substitution G A missense_variant E108K 322G>A SKCM-US 3 121340651 121340651 single base substitution G A synonymous_variant L125L 375G>A SKCM-US 3 121340659 121340659 single base substitution C T missense_variant A128V 383C>T SKCM-US 3 121340695 121340695 single base substitution C T missense_variant S140F 419C>T SKCM-US 3 121340705 121340705 single base substitution G A missense_variant M143I 429G>A SKCM-US 3 121340778 121340778 single base substitution G A missense_variant E168K 502G>A SKCM-US 3 121340788 121340788 single base substitution G A missense_variant G171E 512G>A SKCM-US 3 121340805 121340805 single base substitution G A missense_variant D177N 529G>A SKCM-US 3 121340811 121340811 single base substitution G A missense_variant G179S 535G>A SKCM-US 3 121340930 121340930 single base substitution G A stop_gained W218* 654G>A SKCM-US 3 121340980 121340980 single base substitution C T missense_variant S235L 704C>T SKCM-US 3 121341031 121341031 single base substitution C T missense_variant S252F 755C>T SKCM-US 3 121341061 121341061 single base substitution G A missense_variant G262D 785G>A SKCM-US 3 121341093 121341093 single base substitution C T stop_gained Q273* 817C>T SKCM-US 3 121341214 121341214 single base substitution A C missense_variant H313P 938A>C SKCM-US 3 121341303 121341303 single base substitution G A missense_variant E343K 1027G>A SKCM-US 3 121341342 121341342 single base substitution T C missense_variant Y356H 1066T>C SKCM-US 3 121341459 121341459 single base substitution C T missense_variant L395F 1183C>T SKCM-US 3 121341537 121341537 single base substitution G A missense_variant G421R 1261G>A SKCM-US 3 121341549 121341549 single base substitution G A missense_variant D425N 1273G>A SKCM-US 3 121341592 121341592 single base substitution C T missense_variant S439F 1316C>T SKCM-US 3 121341642 121341642 single base substitution C T missense_variant H456Y 1366C>T SKCM-US 3 121341728 121341728 single base substitution G C missense_variant R484S 1452G>C SKCM-US 3 121341815 121341815 single base substitution C T synonymous_variant L513L 1539C>T SKCM-US 3 121341852 121341852 single base substitution C T missense_variant R526C 1576C>T SKCM-US 3 121341969 121341969 single base substitution C T missense_variant H565Y 1693C>T SKCM-US 3 121341976 121341976 single base substitution G A missense_variant G567E 1700G>A SKCM-US 3 121341989 121341989 single base substitution T G missense_variant N571K 1713T>G SKCM-US 3 121342001 121342001 single base substitution C T synonymous_variant S575S 1725C>T SKCM-US 3 121342087 121342087 single base substitution G A missense_variant R604K 1811G>A SKCM-US 3 121342139 121342139 single base substitution G A stop_gained W621* 1863G>A SKCM-US 3 121342150 121342150 single base substitution G A missense_variant R625K 1874G>A SKCM-US 3 121342188 121342188 single base substitution G A missense_variant E638K 1912G>A SKCM-US 3 121345544 121345544 single base substitution C T splice_region_variant SKCM-US 3 121345595 121345595 single base substitution A T missense_variant E656D 1968A>T SKCM-US 3 121345629 121345629 single base substitution C T missense_variant P668S 2002C>T SKCM-US 3 121345646 121345646 single base substitution G A synonymous_variant E673E 2019G>A SKCM-US 3 121345715 121345715 single base substitution C T synonymous_variant V696V 2088C>T SKCM-US 3 121350723 121350723 single base substitution G A downstream_gene_variant SKCM-US 3 121350806 121350806 single base substitution C T downstream_gene_variant SKCM-US 3 121350811 121350811 single base substitution G A downstream_gene_variant SKCM-US 3 121350818 121350818 single base substitution C T downstream_gene_variant SKCM-US 3 121350826 121350826 single base substitution C T downstream_gene_variant SKCM-US 3 121350950 121350950 single base substitution C T downstream_gene_variant SKCM-US 3 121350951 121350951 single base substitution C T downstream_gene_variant SKCM-US 3 121351010 121351010 single base substitution C A downstream_gene_variant SKCM-US 3 121351017 121351017 single base substitution G A downstream_gene_variant SKCM-US 3 121351032 121351032 single base substitution C T downstream_gene_variant SKCM-US 3 121351304 121351304 single base substitution G A downstream_gene_variant SKCM-US 3 121351959 121351959 single base substitution C T downstream_gene_variant SKCM-US 3 121353122 121353122 single base substitution G A downstream_gene_variant SKCM-US 3 121353207 121353207 single base substitution C T downstream_gene_variant SKCM-US 3 121353213 121353213 single base substitution C T downstream_gene_variant SKCM-US 3 121353216 121353216 single base substitution C T downstream_gene_variant SKCM-US 3 121353237 121353237 single base substitution C T downstream_gene_variant STAD-US 3 121340411 121340411 insertion of <=200bp - T frameshift_variant T45T? STAD-US 3 121340412 121340412 insertion of <=200bp - T frameshift_variant F46F? STAD-US 3 121340550 121340550 single base substitution G A missense_variant V92M 274G>A STAD-US 3 121340587 121340587 single base substitution A G missense_variant N104S 311A>G STAD-US 3 121340935 121340935 single base substitution A C missense_variant N220T 659A>C STAD-US 3 121341232 121341232 single base substitution T A missense_variant I319K 956T>A STAD-US 3 121341390 121341390 single base substitution C T missense_variant P372S 1114C>T STAD-US 3 121341621 121341621 single base substitution G A missense_variant A449T 1345G>A STAD-US 3 121341781 121341781 single base substitution G A missense_variant C502Y 1505G>A STAD-US 3 121341997 121341997 single base substitution C A missense_variant T574N 1721C>A STAD-US 3 121345655 121345655 single base substitution T G synonymous_variant T676T 2028T>G STAD-US 3 121345701 121345701 single base substitution C T stop_gained R692* 2074C>T STAD-US 3 121350700 121350700 single base substitution A G downstream_gene_variant STAD-US 3 121350739 121350739 single base substitution C T downstream_gene_variant STAD-US 3 121351279 121351279 single base substitution G A downstream_gene_variant THCA-SA 3 121346930 121346930 single base substitution A C 3_prime_UTR_variant THCA-SA 3 121347100 121347100 single base substitution C T 3_prime_UTR_variant THCA-SA 3 121350573 121350573 single base substitution A G downstream_gene_variant THCA-SA 3 121350583 121350583 single base substitution C T downstream_gene_variant THCA-SA 3 121353254 121353254 single base substitution T C downstream_gene_variant THCA-US 3 121351231 121351231 single base substitution G C downstream_gene_variant UCEC-US 3 121340441 121340441 single base substitution G A synonymous_variant Q55Q 165G>A UCEC-US 3 121341111 121341111 single base substitution C T missense_variant R279C 835C>T UCEC-US 3 121341741 121341741 single base substitution C T missense_variant P489S 1465C>T UCEC-US 3 121341764 121341764 single base substitution C T synonymous_variant H496H 1488C>T UCEC-US 3 121341804 121341804 single base substitution C T stop_gained R510* 1528C>T UCEC-US 3 121341855 121341855 single base substitution C T missense_variant P527S 1579C>T UCEC-US 3 121341991 121341991 single base substitution C A missense_variant S572Y 1715C>A UCEC-US 3 121341991 121341991 single base substitution C T missense_variant S572F 1715C>T UCEC-US 3 121342181 121342181 single base substitution C T synonymous_variant V635V 1905C>T UCEC-US 3 121345715 121345715 single base substitution C A synonymous_variant V696V 2088C>A UCEC-US 3 121350735 121350735 single base substitution G A downstream_gene_variant UCEC-US 3 121350739 121350739 single base substitution C T downstream_gene_variant UCEC-US 3 121350798 121350798 single base substitution G A downstream_gene_variant UCEC-US 3 121351365 121351365 single base substitution G T downstream_gene_variant UCEC-US 3 121353085 121353085 single base substitution G A downstream_gene_variant UCEC-US 3 121353130 121353130 single base substitution G T downstream_gene_variant UCEC-US 3 121353189 121353191 deletion of <=200bp CTC - downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand NCI-H1437 COSM22073 c.2059C>G p.P687A Substitution - Missense 3:121626839-121626839 + HCC2998 COSM1670493 c.1084C>T p.R362* Substitution - Nonsense 3:121622513-121622513 + 2492722 COSM5720120 c.423G>A p.L141L Substitution - coding silent 3:121621852-121621852 + 11 COSM5732572 c.1577G>A p.R526H Substitution - Missense 3:121623006-121623006 + TCGA-BP-5175-01 COSM479283 c.496G>T p.V166L Substitution - Missense 3:121621925-121621925 + Pat_24_B COSM5863302 c.568G>A p.G190R Substitution - Missense 3:121621997-121621997 + TCGA-D3-A5GR-06 COSM3585966 c.267C>T p.P89P Substitution - coding silent 3:121621696-121621696 + C086 COSM5531120 c.1569C>T p.N523N Substitution - coding silent 3:121622998-121622998 + LUAD-5V8LT COSM402342 c.558A>C p.S186S Substitution - coding silent 3:121621987-121621987 + TCGA-FW-A3R5-06 COSM1693263 c.1316C>T p.S439F Substitution - Missense 3:121622745-121622745 + P37 COSM1736192 c.791C>A p.P264H Substitution - Missense 3:121622220-121622220 + PT34 COSM5910368 c.571G>A p.E191K Substitution - Missense 3:121622000-121622000 + PT37 COSM3914670 c.512G>A p.G171E Substitution - Missense 3:121621941-121621941 + ATL001 COSM1693263 c.1316C>T p.S439F Substitution - Missense 3:121622745-121622745 + Pat_08_B COSM5863305 c.2126C>T p.S709F Substitution - Missense 3:121626906-121626906 + TCGA-AA-A010-01 COSM281096 c.1176A>C p.K392N Substitution - Missense 3:121622605-121622605 + Pat_70_A COSM5863304 c.1730C>T p.P577L Substitution - Missense 3:121623159-121623159 + TCGA-IH-A3EA-01 COSM3585974 c.704C>T p.S235L Substitution - Missense 3:121622133-121622133 + HT55 COSM3120758 c.431T>A p.V144E Substitution - Missense 3:121621860-121621860 + SC_9035 COSM5452231 c.1540G>A p.A514T Substitution - Missense 3:121622969-121622969 + PT19_2 COSM5899934 c.1322G>A p.G441E Substitution - Missense 3:121622751-121622751 + TCGA-BF-A1PZ-01 COSM4318185 c.654G>A p.W218* Substitution - Nonsense 3:121622083-121622083 + 2492723 COSM5720120 c.423G>A p.L141L Substitution - coding silent 3:121621852-121621852 + S02342 COSM5692825 c.229T>C p.S77P Substitution - Missense 3:121621658-121621658 + TCGA-AX-A05Z-01 COSM1036948 c.1528C>T p.R510* Substitution - Nonsense 3:121622957-121622957 + PT41 COSM382294 c.1885G>A p.G629R Substitution - Missense 3:121623314-121623314 + C086 COSM5531119 c.655G>A p.E219K Substitution - Missense 3:121622084-121622084 + 2492723 COSM3914669 c.502G>A p.E168K Substitution - Missense 3:121621931-121621931 + S0091 COSM5883718 c.1502C>T p.S501L Substitution - Missense 3:121622931-121622931 + TCGA-AG-3892-01 COSM256945 c.373T>C p.L125L Substitution - coding silent 3:121621802-121621802 + Pat_08_A COSM5863305 c.2126C>T p.S709F Substitution - Missense 3:121626906-121626906 + PT09_2 COSM5894787 c.428T>C p.M143T Substitution - Missense 3:121621857-121621857 + 8015259 COSM1159068 c.204C>T p.S68S Substitution - coding silent 3:121621633-121621633 + 134398 COSM320381 c.766A>T p.N256Y Substitution - Missense 3:121622195-121622195 + Au2 COSM5599542 c.631G>A p.D211N Substitution - Missense 3:121622060-121622060 + TCGA-EB-A431-01 COSM3585986 c.1725C>T p.S575S Substitution - coding silent 3:121623154-121623154 + 2492714 COSM1693263 c.1316C>T p.S439F Substitution - Missense 3:121622745-121622745 + TCGA-29-2429-01 COSM1327942 c.1089T>C p.L363L Substitution - coding silent 3:121622518-121622518 + TCGA-ER-A19F-06 COSM3585988 c.1874G>A p.R625K Substitution - Missense 3:121623303-121623303 + HCC90 COSM1616778 c.25C>G p.P9A Substitution - Missense 3:121621454-121621454 + CX-1 COSM3120795 c.2031C>A p.D677E Substitution - Missense 3:121626811-121626811 + WA16 COSM239847 c.1842_1843delAG p.G615fs*40 Deletion - Frameshift 3:121623271-121623272 + T3049 COSM4683995 c.215G>T p.C72F Substitution - Missense 3:121621644-121621644 + T2269 COSM4683998 c.1770C>T p.S590S Substitution - coding silent 3:121623199-121623199 + TCGA-AX-A05Z-01 COSM1036952 c.1715C>T p.S572F Substitution - Missense 3:121623144-121623144 + ESO-043 COSM1252270 c.191C>T p.P64L Substitution - Missense 3:121621620-121621620 + TCGA-BR-4253-01 COSM4112668 c.2028T>G p.T676T Substitution - coding silent 3:121626808-121626808 + 036T COSM1728708 c.1201C>T p.Q401* Substitution - Nonsense 3:121622630-121622630 + Pat_70_B COSM5863304 c.1730C>T p.P577L Substitution - Missense 3:121623159-121623159 + TCGA-BR-8589-01 COSM4112663 c.659A>C p.N220T Substitution - Missense 3:121622088-121622088 + TCGA-B0-4694-01 COSM39113 c.233G>A p.R78H Substitution - Missense 3:121621662-121621662 + S00050 COSM317353 c.1644G>T p.E548D Substitution - Missense 3:121623073-121623073 + 2492721 COSM5720120 c.423G>A p.L141L Substitution - coding silent 3:121621852-121621852 + TCGA-GN-A266-06 COSM3585981 c.1366C>T p.H456Y Substitution - Missense 3:121622795-121622795 + TCGA-HU-8602-01 COSM4112666 c.1505G>A p.C502Y Substitution - Missense 3:121622934-121622934 + B105-1 COSM1752836 c.2060C>T p.P687L Substitution - Missense 3:121626840-121626840 + 587248 COSM1206841 c.939C>A p.H313Q Substitution - Missense 3:121622368-121622368 + TCGA-BP-5001-01 COSM1495309 c.1354C>T p.P452S Substitution - Missense 3:121622783-121622783 + TCGA-BR-8680-01 COSM4112662 c.311A>G p.N104S Substitution - Missense 3:121621740-121621740 + 545 COSM5612673 c.707C>T p.A236V Substitution - Missense 3:121622136-121622136 + PT09_1 COSM5894787 c.428T>C p.M143T Substitution - Missense 3:121621857-121621857 + TCGA-GF-A6C9-06 COSM4903850 c.1700G>A p.G567E Substitution - Missense 3:121623129-121623129 + AOCS-163-1-4 COSM4138355 c.870G>A p.W290* Substitution - Nonsense 3:121622299-121622299 + TCGA-AP-A0LM-01 COSM1036958 c.2088C>A p.V696V Substitution - coding silent 3:121626868-121626868 + TCGA-EE-A2MS-06 COSM3585975 c.755C>T p.S252F Substitution - Missense 3:121622184-121622184 + CSCC-44-T COSM4571352 c.438T>A p.L146L Substitution - coding silent 3:121621867-121621867 + LUAD-RT-S01777 COSM382294 c.1885G>A p.G629R Substitution - Missense 3:121623314-121623314 + 2492712 COSM1693263 c.1316C>T p.S439F Substitution - Missense 3:121622745-121622745 + 8012210 COSM1158832 c.1083T>A p.A361A Substitution - coding silent 3:121622512-121622512 + BN38 COSM1616779 c.1662C>T p.S554S Substitution - coding silent 3:121623091-121623091 + TCGA-GF-A6C9-06 COSM4899494 c.1273G>A p.D425N Substitution - Missense 3:121622702-121622702 + TCGA-EE-A2MR-06 COSM3585992 c.2019G>A p.E673E Substitution - coding silent 3:121626799-121626799 + TCGA-EB-A1NK-01 COSM3914667 c.224C>T p.S75F Substitution - Missense 3:121621653-121621653 + TCGA-EE-A2MD-06 COSM3585991 c.2002C>T p.P668S Substitution - Missense 3:121626782-121626782 + YUHEF COSM1693262 c.1085G>A p.R362Q Substitution - Missense 3:121622514-121622514 + 2492703 COSM5599542 c.631G>A p.D211N Substitution - Missense 3:121622060-121622060 + cSCCP6 COSM136367 c.2003C>T p.P668L Substitution - Missense 3:121626783-121626783 + CSCC-56-T COSM3585965 c.203C>T p.S68F Substitution - Missense 3:121621632-121621632 + TCGA-CD-A4MI-01 COSM4112669 c.2074C>T p.R692* Substitution - Nonsense 3:121626854-121626854 + LUAD-RT-S01487 COSM377929 c.442C>T p.P148S Substitution - Missense 3:121621871-121621871 + T2932 COSM4683996 c.415A>G p.R139G Substitution - Missense 3:121621844-121621844 + ESCC_21 COSM5626275 c.315G>A p.V105V Substitution - coding silent 3:121621744-121621744 + TCGA-FW-A3R5-06 COSM3914669 c.502G>A p.E168K Substitution - Missense 3:121621931-121621931 + YULOCUS COSM5397895 c.356_357CC>TT p.T119I Substitution - Missense 3:121621785-121621786 + ESCC_150 COSM5645021 c.2090C>T p.S697F Substitution - Missense 3:121626870-121626870 + PT19_2 COSM5899933 c.1213G>A p.E405K Substitution - Missense 3:121622642-121622642 + CSCC-7-T COSM4530151 c.1670G>A p.R557K Substitution - Missense 3:121623099-121623099 + TCGA-D3-A1Q4-06 COSM3585987 c.1863G>A p.W621* Substitution - Nonsense 3:121623292-121623292 + TCGA-CG-4462-01 COSM4112667 c.1721C>A p.T574N Substitution - Missense 3:121623150-121623150 + PT48 COSM5931299 c.1372G>A p.E458K Substitution - Missense 3:121622801-121622801 + TCGA-D9-A3Z3-06 COSM3585984 c.1693C>T p.H565Y Substitution - Missense 3:121623122-121623122 + TCGA-AP-A056-01 COSM1036942 c.835C>T p.R279C Substitution - Missense 3:121622264-121622264 + TCGA-DA-A1IC-06 COSM3585964 c.93C>T p.T31T Substitution - coding silent 3:121621522-121621522 + 423 COSM4432531 c.1250G>C p.R417T Substitution - Missense 3:121622679-121622679 + KYSE-180 COSM3120751 c.230C>G p.S77C Substitution - Missense 3:121621659-121621659 + S00827 COSM311131 c.2110C>G p.R704G Substitution - Missense 3:121626890-121626890 + LUAD-NYU263 COSM372249 c.1607A>G p.Y536C Substitution - Missense 3:121623036-121623036 + 2492701 COSM5599542 c.631G>A p.D211N Substitution - Missense 3:121622060-121622060 + TCGA-LG-A6GG-01 COSM4939415 c.1171C>G p.P391A Substitution - Missense 3:121622600-121622600 + TCGA-IZ-A6M9-01 COSM3992669 c.2108C>T p.P703L Substitution - Missense 3:121626888-121626888 + TCGA-39-5027-01 COSM727959 c.385C>T p.L129L Substitution - coding silent 3:121621814-121621814 + PT36 COSM1693263 c.1316C>T p.S439F Substitution - Missense 3:121622745-121622745 + TCGA-CD-8536-01 COSM4112661 c.274G>A p.V92M Substitution - Missense 3:121621703-121621703 + TCGA-D3-A5GR-06 COSM3585977 c.817C>T p.Q273* Substitution - Nonsense 3:121622246-121622246 + TCGA-GN-A26A-06 COSM3585980 c.1261G>A p.G421R Substitution - Missense 3:121622690-121622690 + TCGA-GN-A266-06 COSM3585983 c.1539C>T p.L513L Substitution - coding silent 3:121622968-121622968 + 0061_CRUK_PC_0061_T1_DNA COSM5423923 c.413T>G p.F138C Substitution - Missense 3:121621842-121621842 + TCGA-GN-A266-06 COSM3585977 c.817C>T p.Q273* Substitution - Nonsense 3:121622246-121622246 + PT49 COSM5934745 c.1378C>T p.H460Y Substitution - Missense 3:121622807-121622807 + 49M COSM4474094 c.1895C>T p.S632F Substitution - Missense 3:121623324-121623324 + YUTRAIN COSM5397896 c.1467C>T p.P489P Substitution - coding silent 3:121622896-121622896 + Br03X COSM39113 c.233G>A p.R78H Substitution - Missense 3:121621662-121621662 + PT37 COSM1693263 c.1316C>T p.S439F Substitution - Missense 3:121622745-121622745 + 2492702 COSM5599542 c.631G>A p.D211N Substitution - Missense 3:121622060-121622060 + T3094 COSM4683994 c.4-1delG p.? Unknown 3:121621432-121621432 + TCGA-AP-A051-01 COSM1036940 c.165G>A p.Q55Q Substitution - coding silent 3:121621594-121621594 + B105-1-Tumor COSM1752836 c.2060C>T p.P687L Substitution - Missense 3:121626840-121626840 + TCGA-ER-A193-06 COSM3585972 c.529G>A p.D177N Substitution - Missense 3:121621958-121621958 + 2521259 COSM5889924 c.334C>T p.H112Y Substitution - Missense 3:121621763-121621763 + S01563 COSM311132 c.377A>T p.D126V Substitution - Missense 3:121621806-121621806 + CSCC-55-T COSM4565307 c.1956_1957GG>AA p.W652_E653>* Complex - deletion inframe 3:121626736-121626737 + TCGA-BR-8680-01 COSM3120780 c.1345G>A p.A449T Substitution - Missense 3:121622774-121622774 + TCGA-FS-A1ZZ-06 COSM1693261 c.1027G>A p.E343K Substitution - Missense 3:121622456-121622456 + TCGA-BT-A20W-01 COSM419906 c.829G>A p.D277N Substitution - Missense 3:121622258-121622258 + 2492713 COSM1693263 c.1316C>T p.S439F Substitution - Missense 3:121622745-121622745 + TCGA-04-1362-01 COSM79186 c.1219G>T p.E407* Substitution - Nonsense 3:121622648-121622648 + TCGA-AZ-6598-01 COSM1418157 c.457G>A p.A153T Substitution - Missense 3:121621886-121621886 + TCGA-D3-A3C3-06 COSM3585963 c.6G>A p.G2G Substitution - coding silent 3:121621435-121621435 + 2492722 COSM3914669 c.502G>A p.E168K Substitution - Missense 3:121621931-121621931 + I2L-P17-Tumor-Organoid COSM5355176 c.1093G>A p.D365N Substitution - Missense 3:121622522-121622522 + TCGA-CU-A0YN-01 COSM419905 c.2110C>T p.R704* Substitution - Nonsense 3:121626890-121626890 + PD4203a COSM161018 c.1372G>C p.E458Q Substitution - Missense 3:121622801-121622801 + CSCC-38-T COSM4465692 c.1395C>T p.T465T Substitution - coding silent 3:121622824-121622824 + TCGA-C5-A1BQ-01 COSM4842176 c.487G>A p.E163K Substitution - Missense 3:121621916-121621916 + 15145 COSM727960 c.24G>T p.P8P Substitution - coding silent 3:121621453-121621453 + 08-P462 COSM4583829 c.1687T>C p.L563L Substitution - coding silent 3:121623116-121623116 + LS411 COSM3120772 c.915G>T p.K305N Substitution - Missense 3:121622344-121622344 + CSCC-27-T COSM4544043 c.348G>A p.M116I Substitution - Missense 3:121621777-121621777 + 49M COSM5590959 c.1699G>A p.G567R Substitution - Missense 3:121623128-121623128 + TCGA-FW-A3R5-06 COSM3914668 c.429G>A p.M143I Substitution - Missense 3:121621858-121621858 + ICGC_0037 COSM1159068 c.204C>T p.S68S Substitution - coding silent 3:121621633-121621633 + CSCC-37-T COSM4474094 c.1895C>T p.S632F Substitution - Missense 3:121623324-121623324 + CSCC-5-T COSM4462255 c.1239C>T p.I413I Substitution - coding silent 3:121622668-121622668 + TCGA-BC-A10R-01 COSM4935918 c.1156A>T p.T386S Substitution - Missense 3:121622585-121622585 + TCGA-AC-A23H-01 COSM3845955 c.1418C>G p.S473C Substitution - Missense 3:121622847-121622847 + 587376 COSM1206839 c.1010G>A p.G337D Substitution - Missense 3:121622439-121622439 + TCGA-AZ-6601-01 COSM1418160 c.1204T>C p.C402R Substitution - Missense 3:121622633-121622633 + 8012211 COSM1158832 c.1083T>A p.A361A Substitution - coding silent 3:121622512-121622512 + B68 COSM1752835 c.580G>C p.E194Q Substitution - Missense 3:121622009-121622009 + TCGA-D3-A51E-06 COSM3585967 c.297G>A p.W99* Substitution - Nonsense 3:121621726-121621726 + Pat_24_A COSM5863302 c.568G>A p.G190R Substitution - Missense 3:121621997-121621997 + TCGA-EE-A2MF-06 COSM4893364 c.938A>C p.H313P Substitution - Missense 3:121622367-121622367 + cSCCP4 COSM138389 c.1811G>A p.R604K Substitution - Missense 3:121623240-121623240 + CCK81 COSM3120774 c.1158T>G p.T386T Substitution - coding silent 3:121622587-121622587 + T1154 COSM1616779 c.1662C>T p.S554S Substitution - coding silent 3:121623091-121623091 + HN_62506 COSM123124 c.1466C>A p.P489H Substitution - Missense 3:121622895-121622895 + TCGA-AL-3473-01 COSM3992668 c.1639C>T p.P547S Substitution - Missense 3:121623068-121623068 + S00827 COSM311131 c.2110C>G p.R704G Substitution - Missense 3:121626890-121626890 + YUKAT COSM5397893 c.60C>T p.N20N Substitution - coding silent 3:121621489-121621489 + TCGA-AG-3909-01 COSM289157 c.23C>T p.P8L Substitution - Missense 3:121621452-121621452 + TCGA-BH-A0C0-01 COSM445385 c.119T>G p.L40R Substitution - Missense 3:121621548-121621548 + YUHEF COSM1693265 c.1735G>A p.E579K Substitution - Missense 3:121623164-121623164 + 2492721 COSM3914669 c.502G>A p.E168K Substitution - Missense 3:121621931-121621931 + 1960034 COSM1644164 c.853A>G p.T285A Substitution - Missense 3:121622282-121622282 + LUAD-E01278 COSM394269 c.1021G>T p.A341S Substitution - Missense 3:121622450-121622450 + TCGA-AA-A00R-01 COSM298973 c.1941_1942insA p.I649fs*7 Insertion - Frameshift 3:121626721-121626722 + YUGISMO COSM1693264 c.1570C>A p.H524N Substitution - Missense 3:121622999-121622999 + TCGA-HT-7605-01 COSM3974117 c.131C>G p.A44G Substitution - Missense 3:121621560-121621560 + TCGA-ER-A19G-06 COSM3585970 c.383C>T p.A128V Substitution - Missense 3:121621812-121621812 + ICGC_0025 COSM1158832 c.1083T>A p.A361A Substitution - coding silent 3:121622512-121622512 + TCGA-AY-6197-01 COSM1418162 c.1640C>T p.P547L Substitution - Missense 3:121623069-121623069 + 16246 COSM5615183 c.292G>T p.E98* Substitution - Nonsense 3:121621721-121621721 + CSCC-31-T COSM4544247 c.352G>A p.E118K Substitution - Missense 3:121621781-121621781 + TCGA-FW-A3R5-06 COSM3914670 c.512G>A p.G171E Substitution - Missense 3:121621941-121621941 + PDA_032 COSM4999689 c.899C>A p.T300K Substitution - Missense 3:121622328-121622328 + 2492711 COSM1693263 c.1316C>T p.S439F Substitution - Missense 3:121622745-121622745 + HT29 COSM3120795 c.2031C>A p.D677E Substitution - Missense 3:121626811-121626811 + YUPROST COSM1693261 c.1027G>A p.E343K Substitution - Missense 3:121622456-121622456 + HCC90T COSM1616778 c.25C>G p.P9A Substitution - Missense 3:121621454-121621454 + C089 COSM1693260 c.433G>A p.E145K Substitution - Missense 3:121621862-121621862 + NCI-H835 COSM3120788 c.1532G>T p.C511F Substitution - Missense 3:121622961-121622961 + TCGA-EB-A431-01 COSM3585990 c.1968A>T p.E656D Substitution - Missense 3:121626748-121626748 + LAU50_1 COSM232327 c.95C>T p.S32F Substitution - Missense 3:121621524-121621524 + TCGA-D5-6930-01 COSM1418158 c.682G>A p.A228T Substitution - Missense 3:121622111-121622111 + YUAKER COSM1693263 c.1316C>T p.S439F Substitution - Missense 3:121622745-121622745 + S00050 COSM317353 c.1644G>T p.E548D Substitution - Missense 3:121623073-121623073 + CSCC-40-T COSM4452235 c.1705A>G p.S569G Substitution - Missense 3:121623134-121623134 + YUMOBER COSM5397894 c.330C>T p.T110T Substitution - coding silent 3:121621759-121621759 + Pat_66_A COSM5863303 c.1382G>A p.S461N Substitution - Missense 3:121622811-121622811 + TCGA-EE-A2GR-06 COSM3585981 c.1366C>T p.H456Y Substitution - Missense 3:121622795-121622795 + T8 COSM5618561 c.1534C>A p.P512T Substitution - Missense 3:121622963-121622963 + TCGA-46-3769-01 COSM727958 c.476C>A p.T159N Substitution - Missense 3:121621905-121621905 + sysucc-1397T COSM5474537 c.762C>T p.G254G Substitution - coding silent 3:121622191-121622191 + T3225 COSM3120752 c.301C>T p.R101C Substitution - Missense 3:121621730-121621730 + TCGA-AA-A00N-01 COSM275144 c.696A>C p.T232T Substitution - coding silent 3:121622125-121622125 + HT115 COSM3120776 c.1238T>G p.I413S Substitution - Missense 3:121622667-121622667 + HCT15 COSM1670494 c.1093G>T p.D365Y Substitution - Missense 3:121622522-121622522 + SNU-283 COSM3120784 c.1421C>G p.A474G Substitution - Missense 3:121622850-121622850 + TCGA-ER-A193-06 COSM3585969 c.375G>A p.L125L Substitution - coding silent 3:121621804-121621804 + 526LT COSM39113 c.233G>A p.R78H Substitution - Missense 3:121621662-121621662 + HDC87 COSM4637081 c.756C>T p.S252S Substitution - coding silent 3:121622185-121622185 + C0081T COSM4152634 c.24G>A p.P8P Substitution - coding silent 3:121621453-121621453 + 090T COSM1731294 c.1310A>G p.Q437R Substitution - Missense 3:121622739-121622739 + B68-Tumor COSM1752835 c.580G>C p.E194Q Substitution - Missense 3:121622009-121622009 + Pat_24_B COSM5863301 c.232C>T p.R78C Substitution - Missense 3:121621661-121621661 + TCGA-EI-6917-01 COSM3426942 c.955A>T p.I319L Substitution - Missense 3:121622384-121622384 + PT35 COSM5750880 c.599G>A p.R200Q Substitution - Missense 3:121622028-121622028 + TCGA-ER-A19P-06 COSM3585982 c.1452G>C p.R484S Substitution - Missense 3:121622881-121622881 + ESCC_4 COSM5622919 c.1306G>C p.E436Q Substitution - Missense 3:121622735-121622735 + PT36 COSM3120748 c.5G>A p.G2E Substitution - Missense 3:121621434-121621434 + PT23_2 COSM5903467 c.22C>T p.P8S Substitution - Missense 3:121621451-121621451 + 49M COSM5590960 c.666C>T p.F222F Substitution - coding silent 3:121622095-121622095 + TCGA-EE-A2GJ-06 COSM3585971 c.419C>T p.S140F Substitution - Missense 3:121621848-121621848 + TCGA-C5-A2LX-01 COSM4827466 c.508G>A p.G170R Substitution - Missense 3:121621937-121621937 + TCGA-D1-A103-01 COSM1036956 c.1905C>T p.V635V Substitution - coding silent 3:121623334-121623334 + ESCC_55 COSM5631952 c.969G>C p.Q323H Substitution - Missense 3:121622398-121622398 + T3080 COSM1736953 c.946C>T p.R316W Substitution - Missense 3:121622375-121622375 + TCGA-D3-A51T-06 COSM3585973 c.535G>A p.G179S Substitution - Missense 3:121621964-121621964 + HCC090T COSM5810741 c.1987C>A p.H663N Substitution - Missense 3:121626767-121626767 + TCGA-60-2710-01 COSM727960 c.24G>T p.P8P Substitution - coding silent 3:121621453-121621453 + CHEWS001 COSM4583828 c.330C>A p.T110T Substitution - coding silent 3:121621759-121621759 + 2492720 COSM5720120 c.423G>A p.L141L Substitution - coding silent 3:121621852-121621852 + CSCC-56-T COSM1036948 c.1528C>T p.R510* Substitution - Nonsense 3:121622957-121622957 + TCGA-FW-A3R5-06 COSM3914671 c.1576C>T p.R526C Substitution - Missense 3:121623005-121623005 + LUAD-TLLGS COSM347635 c.442C>A p.P148T Substitution - Missense 3:121621871-121621871 + 2492700 COSM5599542 c.631G>A p.D211N Substitution - Missense 3:121622060-121622060 + HT55 COSM3120783 c.1379A>G p.H460R Substitution - Missense 3:121622808-121622808 + C135 COSM4618283 c.268G>A p.A90T Substitution - Missense 3:121621697-121621697 + TCGA-AF-6655-01 COSM1566320 c.1135G>T p.D379Y Substitution - Missense 3:121622564-121622564 + TCGA-18-3421-01 COSM727957 c.1322G>T p.G441V Substitution - Missense 3:121622751-121622751 + HCC1143 COSM50779 c.61C>T p.R21C Substitution - Missense 3:121621490-121621490 + TCGA-D3-A3C3-06 COSM3585978 c.1066T>C p.Y356H Substitution - Missense 3:121622495-121622495 + 177T COSM1727543 c.991_992delGA p.D333fs*12 Deletion - Frameshift 3:121622420-121622421 + S01563 COSM311132 c.377A>T p.D126V Substitution - Missense 3:121621806-121621806 + TCGA-D9-A4Z3-01 COSM3585972 c.529G>A p.D177N Substitution - Missense 3:121621958-121621958 + TCGA-EB-A42Z-01 COSM3585976 c.785G>A p.G262D Substitution - Missense 3:121622214-121622214 + T368 COSM4683997 c.1701delA p.S569fs*5 Deletion - Frameshift 3:121623130-121623130 + TCGA-AU-3779-01 COSM1418159 c.1134G>T p.V378V Substitution - coding silent 3:121622563-121622563 + TCGA-EB-A41B-01 COSM3585979 c.1183C>T p.L395F Substitution - Missense 3:121622612-121622612 + TCGA-66-2795-01 COSM727955 c.1956G>T p.W652C Substitution - Missense 3:121626736-121626736 + TCGA-EB-A431-01 COSM3585985 c.1713T>G p.N571K Substitution - Missense 3:121623142-121623142 + C004 COSM3914669 c.502G>A p.E168K Substitution - Missense 3:121621931-121621931 + 587376 COSM1206840 c.1684C>A p.L562I Substitution - Missense 3:121623113-121623113 + TCGA-EE-A2GM-06 COSM3585963 c.6G>A p.G2G Substitution - coding silent 3:121621435-121621435 + TCGA-AX-A05Z-01 COSM1036950 c.1579C>T p.P527S Substitution - Missense 3:121623008-121623008 + CSCC-41-T COSM1418163 c.2034G>A p.P678P Substitution - coding silent 3:121626814-121626814 + TCGA-24-1423-01 COSM70759 c.2032C>A p.P678T Substitution - Missense 3:121626812-121626812 + 6T COSM3734576 c.1069T>A p.C357S Substitution - Missense 3:121622498-121622498 + Au8 COSM1693263 c.1316C>T p.S439F Substitution - Missense 3:121622745-121622745 + TCGA-CM-6170-01 COSM1418155 c.14G>A p.R5H Substitution - Missense 3:121621443-121621443 + CSCC-40-T COSM4452237 c.1709A>G p.Q570R Substitution - Missense 3:121623138-121623138 + TCGA-BS-A0UF-01 COSM1036944 c.1465C>T p.P489S Substitution - Missense 3:121622894-121622894 + TCGA-AR-A1AU-01 COSM445386 c.1912G>A p.E638K Substitution - Missense 3:121623341-121623341 + HCC2998 COSM1670493 c.1084C>T p.R362* Substitution - Nonsense 3:121622513-121622513 + TCGA-ER-A2NH-06 COSM3585993 c.2088C>T p.V696V Substitution - coding silent 3:121626868-121626868 + TCGA-AA-3663-01 COSM1418164 c.2062C>T p.R688C Substitution - Missense 3:121626842-121626842 + ESCC_54 COSM5649733 c.62G>A p.R21H Substitution - Missense 3:121621491-121621491 + Pat_24_A COSM5863301 c.232C>T p.R78C Substitution - Missense 3:121621661-121621661 + TCGA-EE-A2ML-06 COSM3585965 c.203C>T p.S68F Substitution - Missense 3:121621632-121621632 + TCGA-34-5231-01 COSM727956 c.1525C>A p.H509N Substitution - Missense 3:121622954-121622954 + P141 COSM1736953 c.946C>T p.R316W Substitution - Missense 3:121622375-121622375 + TCGA-FW-A3R5-06 COSM3914666 c.171C>T p.L57L Substitution - coding silent 3:121621600-121621600 + KU-9T COSM4909126 c.198C>G p.L66L Substitution - coding silent 3:121621627-121621627 + TCGA-AP-A0LM-01 COSM1036946 c.1488C>T p.H496H Substitution - coding silent 3:121622917-121622917 + T368 COSM4683999 c.2031C>T p.D677D Substitution - coding silent 3:121626811-121626811 + pfg016T COSM1642060 c.1923G>A p.Q641Q Substitution - coding silent 3:121626703-121626703 + tumor_4144951 COSM5948853 c.825G>A p.Q275Q Substitution - coding silent 3:121622254-121622254 + TCGA-EE-A3AF-06 COSM138389 c.1811G>A p.R604K Substitution - Missense 3:121623240-121623240 + CRC-29T COSM5452231 c.1540G>A p.A514T Substitution - Missense 3:121622969-121622969 + HT55 COSM3120778 c.1267T>C p.F423L Substitution - Missense 3:121622696-121622696 + TCGA-D9-A6EC-06 COSM4405504 c.310A>C p.N104H Substitution - Missense 3:121621739-121621739 + TCGA-A6-5666-01 COSM202798 c.2122G>A p.V708I Substitution - Missense 3:121626902-121626902 + TCGA-HU-A4GX-01 COSM4112665 c.1114C>T p.P372S Substitution - Missense 3:121622543-121622543 + P09-1580 COSM244475 c.1558T>C p.F520L Substitution - Missense 3:121622987-121622987 + TCGA-EB-A4IS-01 COSM3585989 c.1917C>T p.I639I Substitution - coding silent 3:121626697-121626697 + TCGA-FS-A1ZC-06 COSM3585968 c.322G>A p.E108K Substitution - Missense 3:121621751-121621751 + YUSWI COSM1693260 c.433G>A p.E145K Substitution - Missense 3:121621862-121621862 + 2497781 COSM5750880 c.599G>A p.R200Q Substitution - Missense 3:121622028-121622028 + HCT-15 COSM1670494 c.1093G>T p.D365Y Substitution - Missense 3:121622522-121622522 + pfg413T COSM4760730 c.485G>A p.G162D Substitution - Missense 3:121621914-121621914 + 2530678 COSM5885828 c.1689delG p.G564fs*10 Deletion - Frameshift 3:121623118-121623118 + TCGA-CA-6718-01 COSM1036948 c.1528C>T p.R510* Substitution - Nonsense 3:121622957-121622957 + TCGA-D1-A17Q-01 COSM1036954 c.1715C>A p.S572Y Substitution - Missense 3:121623144-121623144 + sysucc-880T COSM5463192 c.1369G>A p.V457M Substitution - Missense 3:121622798-121622798 + CSCC-16-T COSM4456115 c.1216_1217AG>TA p.R406* Substitution - Nonsense 3:121622645-121622646 + TCGA-EI-6511-01 COSM3426941 c.435A>T p.E145D Substitution - Missense 3:121621864-121621864 + 2492720 COSM3914669 c.502G>A p.E168K Substitution - Missense 3:121621931-121621931 + TCGA-JW-A5VL-01 COSM4847593 c.2007C>G p.F669L Substitution - Missense 3:121626787-121626787 + BD185T COSM5501086 c.382G>T p.A128S Substitution - Missense 3:121621811-121621811 + TCGA-EE-A3JB-06 COSM445386 c.1912G>A p.E638K Substitution - Missense 3:121623341-121623341 + 8051734 COSM4135332 c.1180G>T p.D394Y Substitution - Missense 3:121622609-121622609 + ESCC-129T COSM3940225 c.441C>T p.F147F Substitution - coding silent 3:121621870-121621870 + TCGA-G4-6588-01 COSM1418161 c.1357G>T p.G453W Substitution - Missense 3:121622786-121622786 + CSCC-31-T COSM4542356 c.316G>A p.D106N Substitution - Missense 3:121621745-121621745 + TCGA-BR-6452-01 COSM4112664 c.956T>A p.I319K Substitution - Missense 3:121622385-121622385 + PT31 COSM5943695 c.613delA p.T206fs*26 Deletion - Frameshift 3:121622042-121622042 + LAU50_2 COSM232327 c.95C>T p.S32F Substitution - Missense 3:121621524-121621524 + BN38T COSM1616779 c.1662C>T p.S554S Substitution - coding silent 3:121623091-121623091 + 2497780 COSM5750880 c.599G>A p.R200Q Substitution - Missense 3:121622028-121622028 + HCC116T COSM5807124 c.925A>G p.M309V Substitution - Missense 3:121622354-121622354 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.272564 3q13.33 609107

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.H313P c.938A>C 3 121341214 CM - A Frameshift p.I649Nfs*7 c.1945dupA 3 121345569 COREAD A T Missense p.D126V c.377A>T 3 121340653 SCLC A T Missense p.N256Y c.766A>T 3 121341042 SCLC A T Missense p.T380S c.1138A>T 3 121341414 LUAD C A Missense p.H509N c.1525C>A 3 121341801 LUSC C A Missense p.P489H c.1466C>A 3 121341742 HNSC C A Missense p.P678T c.2032C>A 3 121345659 OV C A Missense p.P687T c.2059C>A 3 121345686 HNSC C A Missense p.T159N c.476C>A 3 121340752 LUSC C A Missense p.T574N c.1721C>A 3 121341997 STAD C A Synonymous p.A608A c.1824C>A 3 121342100 HNSC C A Synonymous p.L400L c.1200C>A 3 121341476 LUAD C A Synonymous p.S7S c.21C>A 3 121340297 HNSC C G Missense p.A44G c.131C>G 3 121340407 LGG C G Missense p.R704G c.2110C>G 3 121345737 SCLC C T IntronicSNV . c.1-16643C>T 3 121322780 PIA C T Missense p.A128V c.383C>T 3 121340659 CM C T Missense p.H456Y c.1366C>T 3 121341642 CM C T Missense p.P64L c.191C>T 3 121340467 ESCA C T Missense p.P668S c.2002C>T 3 121345629 CM C T Missense p.P8L c.23C>T 3 121340299 COREAD C T Missense p.S140F c.419C>T 3 121340695 CM C T Missense p.S235L c.704C>T 3 121340980 CM C T Missense p.S252F c.755C>T 3 121341031 CM C T Missense p.S68F c.203C>T 3 121340479 CM C T Missense p.S75F c.224C>T 3 121340500 CM C T Nonsense p.R704* c.2110C>T 3 121345737 BLCA C T Synonymous p.F492F c.1476C>T 3 121341752 CM C T Synonymous p.I178I c.534C>T 3 121340810 CM C T Synonymous p.L129L c.385C>T 3 121340661 LUSC C T Synonymous p.S68S c.204C>T 3 121340480 PAAD C T Synonymous p.T31T c.93C>T 3 121340369 CM C T Synonymous p.V696V c.2088C>T 3 121345715 CM G A 3-UTRSNV . c.2127+2152G>A 3 121347906 HC G A Missense p.D177N c.529G>A 3 121340805 CM G A Missense p.D277N c.829G>A 3 121341105 BLCA G A Missense p.E108K c.322G>A 3 121340598 CM G A Missense p.E283K c.847G>A 3 121341123 LUAD G A Missense p.E343K c.1027G>A 3 121341303 CM G A Missense p.E638K c.1912G>A 3 121342188 BRCA G A Missense p.E638K c.1912G>A 3 121342188 CM G A Missense p.G421R c.1261G>A 3 121341537 CM G A Missense p.R604K c.1811G>A 3 121342087 CM G A Missense p.R625K c.1874G>A 3 121342150 CM G A Missense p.R688H c.2063G>A 3 121345690 COREAD G A Missense p.R78H c.233G>A 3 121340509 GBM G A Missense p.V708I c.2122G>A 3 121345749 COREAD G A Nonsense p.W218* c.654G>A 3 121340930 CM G A Nonsense p.W621* c.1863G>A 3 121342139 CM G A Nonsense p.W99* c.297G>A 3 121340573 CM G A Synonymous p.G2G c.6G>A 3 121340282 CM G A Synonymous p.K376K c.1128G>A 3 121341404 CM G A Synonymous p.L125L c.375G>A 3 121340651 CM G A Synonymous p.Q641Q c.1923G>A 3 121345550 STAD G C Missense p.E261Q c.781G>C 3 121341057 CM G C Missense p.E458Q c.1372G>C 3 121341648 BRCA G C Missense p.R484S c.1452G>C 3 121341728 CM G T Missense p.E548D c.1644G>T 3 121341920 SCLC G T Missense p.G441V c.1322G>T 3 121341598 LUSC G T Missense p.V166L c.496G>T 3 121340772 RCCC G T Missense p.W652C c.1956G>T 3 121345583 LUSC G T Nonsense p.E407* c.1219G>T 3 121341495 OV G T Nonsense p.E98* c.292G>T 3 121340568 NSCLC G T Synonymous p.P8P c.24G>T 3 121340300 LUSC G T Synonymous p.P8P c.24G>T 3 121340300 NSCLC T A Synonymous p.A361A c.1083T>A 3 121341359 PAAD T C 3-UTRSNV . c.2127+2244T>C 3 121347998 MB T C Missense p.Y356H c.1066T>C 3 121341342 CM T C Synonymous p.T154T c.462T>C 3 121340738 HNSC T G Missense p.L40R c.119T>G 3 121340395 BRCA T G Synonymous p.T676T c.2028T>G 3 121345655 STAD