KBTBD6
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA134170501641705016+Missense_MutationSNPCCGTCGA-BT-A0YX-01A-11D-A10S-08TCGA-BT-A0YX-10A-01D-A10S-08g.chr13:41705016C>Gc.1632G>Cc.(1630-1632)tgG>tgCp.W544C
BLCA134170509941705099+Missense_MutationSNPCCTTCGA-BT-A0YX-01A-11D-A10S-08TCGA-BT-A0YX-10A-01D-A10S-08g.chr13:41705099C>Tc.1549G>Ac.(1549-1551)Gaa>Aaap.E517K
BLCA134170545041705450+Nonsense_MutationSNPGGATCGA-CF-A1HS-01A-11D-A13W-08TCGA-CF-A1HS-10A-01D-A13W-08g.chr13:41705450G>Ac.1198C>Tc.(1198-1200)Cag>Tagp.Q400*
BLCA134170551241705512+Missense_MutationSNPGGATCGA-DK-A6B6-01A-11D-A30E-08TCGA-DK-A6B6-10A-01D-A30H-08g.chr13:41705512G>Ac.1136C>Tc.(1135-1137)aCt>aTtp.T379I
BLCA134170561341705613+Missense_MutationSNPCCATCGA-CU-A3KJ-01A-11D-A21A-08TCGA-CU-A3KJ-10A-01D-A21A-08g.chr13:41705613C>Ac.1035G>Tc.(1033-1035)atG>atTp.M345I
BLCA134170618841706188+Missense_MutationSNPCCTTCGA-DK-A2I6-01A-12D-A18F-08TCGA-DK-A2I6-10A-01D-A18F-08g.chr13:41706188C>Tc.460G>Ac.(460-462)Gaa>Aaap.E154K
BLCA134170633241706332+Missense_MutationSNPCCGTCGA-BT-A0YX-01A-11D-A10S-08TCGA-BT-A0YX-10A-01D-A10S-08g.chr13:41706332C>Gc.316G>Cc.(316-318)Gag>Cagp.E106Q
BLCA134170647441706474+SilentSNPAAGTCGA-KQ-A41S-01A-12D-A339-08TCGA-KQ-A41S-10C-01D-A339-08g.chr13:41706474A>Gc.174T>Cc.(172-174)gaT>gaCp.D58D
BRCA134170470341704703+Missense_MutationSNPAATTCGA-D8-A1XK-01A-21D-A14K-09TCGA-D8-A1XK-10A-01D-A14K-09g.chr13:41704703A>Tc.1945T>Ac.(1945-1947)Ttc>Atcp.F649I
BRCA134170475741704757+Missense_MutationSNPTTCTCGA-AO-A128-01A-11D-A10M-09TCGA-AO-A128-10A-01D-A10M-09g.chr13:41704757T>Cc.1891A>Gc.(1891-1893)Act>Gctp.T631A
BRCA134170520141705201+Nonsense_MutationSNPGGATCGA-AN-A046-01A-21W-A050-09TCGA-AN-A046-10A-01W-A055-09g.chr13:41705201G>Ac.1447C>Tc.(1447-1449)Cga>Tgap.R483*
BRCA134170526641705266+Missense_MutationSNPCCATCGA-AN-A046-01A-21W-A050-09TCGA-AN-A046-10A-01W-A055-09g.chr13:41705266C>Ac.1382G>Tc.(1381-1383)aGa>aTap.R461I
BRCA134170564641705646+SilentSNPTTGTCGA-A8-A0A6-01A-12W-A071-09TCGA-A8-A0A6-10A-01W-A071-09g.chr13:41705646T>Gc.1002A>Cc.(1000-1002)ccA>ccCp.P334P
COAD134170496941704969+Missense_MutationSNPCCATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr13:41704969C>Ac.1679G>Tc.(1678-1680)aGa>aTap.R560I
COAD134170506741705067+SilentSNPAAGTCGA-AA-3518-01A-02W-0833-10TCGA-AA-3518-10A-01W-0833-10g.chr13:41705067A>Gc.1581T>Cc.(1579-1581)tgT>tgCp.C527C
COAD134170516641705166+Missense_MutationSNPCCTTCGA-CM-4752-01A-01D-1408-10TCGA-CM-4752-10A-01D-1408-10g.chr13:41705166C>Tc.1482G>Ac.(1480-1482)atG>atAp.M494I
COAD134170538741705387+Missense_MutationSNPGGATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr13:41705387G>Ac.1261C>Tc.(1261-1263)Cgc>Tgcp.R421C
COAD134170557441705574+SilentSNPGGATCGA-AA-3977-01A-01W-0995-10TCGA-AA-3977-10A-01W-0999-10g.chr13:41705574G>Ac.1074C>Tc.(1072-1074)tgC>tgTp.C358C
COAD134170585241705852+Missense_MutationSNPGGATCGA-AA-3984-01A-02W-0995-10TCGA-AA-3984-10A-01W-0999-10g.chr13:41705852G>Ac.796C>Tc.(796-798)Cgc>Tgcp.R266C
COAD134170601441706014+Missense_MutationSNPCCGTCGA-D5-6535-01A-11D-1719-10TCGA-D5-6535-10A-01D-1719-10g.chr13:41706014C>Gc.634G>Cc.(634-636)Gag>Cagp.E212Q
COAD134170612541706125+Missense_MutationSNPCCTTCGA-AA-3833-01A-01W-0900-09TCGA-AA-3833-10A-01W-0900-09g.chr13:41706125C>Tc.523G>Ac.(523-525)Gcc>Accp.A175T
COAD134170613341706133+Missense_MutationSNPTTCTCGA-AA-3663-01A-01D-1719-10TCGA-AA-3663-11A-01D-1719-10g.chr13:41706133T>Cc.515A>Gc.(514-516)aAc>aGcp.N172S
COAD134170615241706152+Nonsense_MutationSNPGGATCGA-AZ-6598-01A-11D-1771-10TCGA-AZ-6598-11A-01D-1771-10g.chr13:41706152G>Ac.496C>Tc.(496-498)Cga>Tgap.R166*
COAD134170631641706316+Missense_MutationSNPCCTTCGA-G4-6628-01A-11D-1835-10TCGA-G4-6628-10A-01D-1835-10g.chr13:41706316C>Tc.332G>Ac.(331-333)aGc>aAcp.S111N
COAD134170639741706397+Missense_MutationSNPCCTTCGA-AD-6895-01A-11D-1924-10TCGA-AD-6895-10A-01D-1924-10g.chr13:41706397C>Tc.251G>Ac.(250-252)tGc>tAcp.C84Y
COAD134170651141706511+Missense_MutationSNPGGTTCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr13:41706511G>Tc.137C>Ac.(136-138)tCt>tAtp.S46Y
COADREAD134170463341704633+Missense_MutationSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr13:41704633G>Ac.2015C>Tc.(2014-2016)gCg>gTgp.A672V
COADREAD134170496941704969+Missense_MutationSNPCCATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr13:41704969C>Ac.1679G>Tc.(1678-1680)aGa>aTap.R560I
COADREAD134170506741705067+SilentSNPAAGTCGA-AA-3518-01A-02W-0833-10TCGA-AA-3518-10A-01W-0833-10g.chr13:41705067A>Gc.1581T>Cc.(1579-1581)tgT>tgCp.C527C
COADREAD134170509141705091+SilentSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr13:41705091G>Ac.1557C>Tc.(1555-1557)tgC>tgTp.C519C
COADREAD134170516641705166+Missense_MutationSNPCCTTCGA-CM-4752-01A-01D-1408-10TCGA-CM-4752-10A-01D-1408-10g.chr13:41705166C>Tc.1482G>Ac.(1480-1482)atG>atAp.M494I
COADREAD134170538741705387+Missense_MutationSNPGGATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr13:41705387G>Ac.1261C>Tc.(1261-1263)Cgc>Tgcp.R421C
COADREAD134170557441705574+SilentSNPGGATCGA-AA-3977-01A-01W-0995-10TCGA-AA-3977-10A-01W-0999-10g.chr13:41705574G>Ac.1074C>Tc.(1072-1074)tgC>tgTp.C358C
COADREAD134170585241705852+Missense_MutationSNPGGATCGA-AA-3984-01A-02W-0995-10TCGA-AA-3984-10A-01W-0999-10g.chr13:41705852G>Ac.796C>Tc.(796-798)Cgc>Tgcp.R266C
COADREAD134170601441706014+Missense_MutationSNPCCGTCGA-D5-6535-01A-11D-1719-10TCGA-D5-6535-10A-01D-1719-10g.chr13:41706014C>Gc.634G>Cc.(634-636)Gag>Cagp.E212Q
COADREAD134170612541706125+Missense_MutationSNPCCTTCGA-AA-3833-01A-01W-0900-09TCGA-AA-3833-10A-01W-0900-09g.chr13:41706125C>Tc.523G>Ac.(523-525)Gcc>Accp.A175T
COADREAD134170613341706133+Missense_MutationSNPTTCTCGA-AA-3663-01A-01D-1719-10TCGA-AA-3663-11A-01D-1719-10g.chr13:41706133T>Cc.515A>Gc.(514-516)aAc>aGcp.N172S
COADREAD134170615241706152+Nonsense_MutationSNPGGATCGA-AZ-6598-01A-11D-1771-10TCGA-AZ-6598-11A-01D-1771-10g.chr13:41706152G>Ac.496C>Tc.(496-498)Cga>Tgap.R166*
COADREAD134170631641706316+Missense_MutationSNPCCTTCGA-G4-6628-01A-11D-1835-10TCGA-G4-6628-10A-01D-1835-10g.chr13:41706316C>Tc.332G>Ac.(331-333)aGc>aAcp.S111N
COADREAD134170639741706397+Missense_MutationSNPCCTTCGA-AD-6895-01A-11D-1924-10TCGA-AD-6895-10A-01D-1924-10g.chr13:41706397C>Tc.251G>Ac.(250-252)tGc>tAcp.C84Y
COADREAD134170651141706511+Missense_MutationSNPGGTTCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr13:41706511G>Tc.137C>Ac.(136-138)tCt>tAtp.S46Y
DLBC134170511041705110+Missense_MutationSNPTTCTCGA-G8-6326-01A-11D-2210-10TCGA-G8-6326-10A-01D-2210-10g.chr13:41705110T>Cc.1538A>Gc.(1537-1539)aAt>aGtp.N513S
DLBC134170645041706450+SilentSNPGGCTCGA-G8-6324-01A-11D-2210-10TCGA-G8-6324-10A-01D-2210-10g.chr13:41706450G>Cc.198C>Gc.(196-198)acC>acGp.T66T
ESCA134170509141705091+SilentSNPGGATCGA-S8-A6BV-01A-21D-A31U-09TCGA-S8-A6BV-10A-01D-A31U-09g.chr13:41705091G>Ac.1557C>Tc.(1555-1557)tgC>tgTp.C519C
ESCA134170590641705906+Nonsense_MutationSNPCCATCGA-VR-A8EO-01A-11D-A36J-09TCGA-VR-A8EO-10A-01D-A36M-09g.chr13:41705906C>Ac.742G>Tc.(742-744)Gag>Tagp.E248*
ESCA134170647641706476+Missense_MutationSNPCCTTCGA-LN-A9FP-01A-31D-A387-09TCGA-LN-A9FP-10A-01D-A38A-09g.chr13:41706476C>Tc.172G>Ac.(172-174)Gat>Aatp.D58N
ESCA134170658541706585+SilentSNPCCTTCGA-2H-A9GK-01A-11D-A37C-09TCGA-2H-A9GK-11A-11D-A37F-09g.chr13:41706585C>Tc.63G>Ac.(61-63)cgG>cgAp.R21R
GBM134170521241705212+Missense_MutationSNPAAGTCGA-28-5208-01A-01D-1486-08TCGA-28-5208-10A-01D-1486-08g.chr13:41705212A>Gc.1436T>Cc.(1435-1437)cTa>cCap.L479P
GBM134170538141705381+SilentSNPGGATCGA-06-0185-01A-01W-0254-08TCGA-06-0185-10B-01W-0254-08g.chr13:41705381G>Ac.1267C>Tc.(1267-1269)Ctg>Ttgp.L423L
GBMLGG134170478241704782+SilentSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr13:41704782G>Ac.1866C>Tc.(1864-1866)tgC>tgTp.C622C
GBMLGG134170521241705212+Missense_MutationSNPAAGTCGA-28-5208-01A-01D-1486-08TCGA-28-5208-10A-01D-1486-08g.chr13:41705212A>Gc.1436T>Cc.(1435-1437)cTa>cCap.L479P
GBMLGG134170538141705381+SilentSNPGGATCGA-06-0185-01A-01W-0254-08TCGA-06-0185-10B-01W-0254-08g.chr13:41705381G>Ac.1267C>Tc.(1267-1269)Ctg>Ttgp.L423L
HNSC134170463441704636+In_Frame_DelDELCTACTA-TCGA-IQ-A6SH-01A-12D-A34J-08TCGA-IQ-A6SH-10A-01D-A34M-08g.chr13:41704634_41704636delCTAc.2012_2014delTAGc.(2011-2016)gtagcg>gcgp.V671del
HNSC134170588141705881+Missense_MutationSNPGGATCGA-CV-7568-01A-11D-2229-08TCGA-CV-7568-10A-01D-2229-08g.chr13:41705881G>Ac.767C>Tc.(766-768)cCc>cTcp.P256L
HNSC134170588241705882+Missense_MutationSNPGGATCGA-CV-7568-01A-11D-2229-08TCGA-CV-7568-10A-01D-2229-08g.chr13:41705882G>Ac.766C>Tc.(766-768)Ccc>Tccp.P256S
HNSC134170621541706215+Missense_MutationSNPAATTCGA-CV-5441-01A-01D-1512-08TCGA-CV-5441-11A-01D-1512-08g.chr13:41706215A>Tc.433T>Ac.(433-435)Tac>Aacp.Y145N
KICH134170486341704863+Missense_MutationSNPCCATCGA-KN-8421-01A-11D-2310-10TCGA-KN-8421-11A-01D-2310-10g.chr13:41704863C>Ac.1785G>Tc.(1783-1785)tgG>tgTp.W595C
KIPAN134170475841704758+SilentSNPGGATCGA-BP-5185-01A-01D-1429-08TCGA-BP-5185-11A-01D-1429-08g.chr13:41704758G>Ac.1890C>Tc.(1888-1890)ctC>ctTp.L630L
KIPAN134170486341704863+Missense_MutationSNPCCATCGA-KN-8421-01A-11D-2310-10TCGA-KN-8421-11A-01D-2310-10g.chr13:41704863C>Ac.1785G>Tc.(1783-1785)tgG>tgTp.W595C
KIPAN134170490641704906+Missense_MutationSNPTTCTCGA-DZ-6133-01A-11D-1961-08TCGA-DZ-6133-10A-01D-1962-08g.chr13:41704906T>Cc.1742A>Gc.(1741-1743)aAc>aGcp.N581S
KIPAN134170536441705364+Missense_MutationSNPCCATCGA-B0-5098-01A-01D-1421-08TCGA-B0-5098-11A-01D-1421-08g.chr13:41705364C>Ac.1284G>Tc.(1282-1284)atG>atTp.M428I
KIPAN134170561041705612+In_Frame_DelDELCACCAC-TCGA-BQ-7051-01A-12D-1961-08TCGA-BQ-7051-11A-02D-1961-08g.chr13:41705610_41705612delCACc.1036_1038delGTGc.(1036-1038)gtgdelp.V346del
KIPAN134170602641706026+Missense_MutationSNPAACTCGA-CJ-5675-01A-11D-1534-10TCGA-CJ-5675-11A-01D-1534-10g.chr13:41706026A>Cc.622T>Gc.(622-624)Tca>Gcap.S208A
KIPAN134170639441706394+Missense_MutationSNPTTCTCGA-BP-5196-01A-01D-1429-08TCGA-BP-5196-11A-01D-1429-08g.chr13:41706394T>Cc.254A>Gc.(253-255)aAc>aGcp.N85S
KIRC134170475841704758+SilentSNPGGATCGA-BP-5185-01A-01D-1429-08TCGA-BP-5185-11A-01D-1429-08g.chr13:41704758G>Ac.1890C>Tc.(1888-1890)ctC>ctTp.L630L
KIRC134170536441705364+Missense_MutationSNPCCATCGA-B0-5098-01A-01D-1421-08TCGA-B0-5098-11A-01D-1421-08g.chr13:41705364C>Ac.1284G>Tc.(1282-1284)atG>atTp.M428I
KIRC134170602641706026+Missense_MutationSNPAACTCGA-CJ-5675-01A-11D-1534-10TCGA-CJ-5675-11A-01D-1534-10g.chr13:41706026A>Cc.622T>Gc.(622-624)Tca>Gcap.S208A
KIRC134170639441706394+Missense_MutationSNPTTCTCGA-BP-5196-01A-01D-1429-08TCGA-BP-5196-11A-01D-1429-08g.chr13:41706394T>Cc.254A>Gc.(253-255)aAc>aGcp.N85S
KIRP134170490641704906+Missense_MutationSNPTTCTCGA-DZ-6133-01A-11D-1961-08TCGA-DZ-6133-10A-01D-1962-08g.chr13:41704906T>Cc.1742A>Gc.(1741-1743)aAc>aGcp.N581S
KIRP134170561041705612+In_Frame_DelDELCACCAC-TCGA-BQ-7051-01A-12D-1961-08TCGA-BQ-7051-11A-02D-1961-08g.chr13:41705610_41705612delCACc.1036_1038delGTGc.(1036-1038)gtgdelp.V346del
LGG134170478241704782+SilentSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr13:41704782G>Ac.1866C>Tc.(1864-1866)tgC>tgTp.C622C
LIHC134170544241705442+Missense_MutationSNPCCATCGA-CC-A8HT-01A-11D-A35Z-10TCGA-CC-A8HT-10A-01D-A35Z-10g.chr13:41705442C>Ac.1206G>Tc.(1204-1206)agG>agTp.R402S
LIHC134170567141705671+Missense_MutationSNPGGCTCGA-DD-AACJ-01A-11D-A40R-10TCGA-DD-AACJ-10A-01D-A40U-10g.chr13:41705671G>Cc.977C>Gc.(976-978)tCt>tGtp.S326C
LUAD134170465841704658+Missense_MutationSNPCCGTCGA-95-7948-01A-11D-2184-08TCGA-95-7948-10A-01D-2184-08g.chr13:41704658C>Gc.1990G>Cc.(1990-1992)Gat>Catp.D664H
LUAD134170472141704721+Missense_MutationSNPCCGTCGA-55-6972-01A-11D-1945-08TCGA-55-6972-11A-01D-1945-08g.chr13:41704721C>Gc.1927G>Cc.(1927-1929)Gaa>Caap.E643Q
LUAD134170487541704875+SilentSNPCCTTCGA-86-7955-01A-11D-2184-08TCGA-86-7955-10A-01D-2184-08g.chr13:41704875C>Tc.1773G>Ac.(1771-1773)agG>agAp.R591R
LUAD134170488941704889+Missense_MutationSNPCCTTCGA-49-4514-01A-21D-1855-08TCGA-49-4514-11A-01D-1855-08g.chr13:41704889C>Tc.1759G>Ac.(1759-1761)Gaa>Aaap.E587K
LUAD134170532041705320+Missense_MutationSNPCCTTCGA-86-8056-01A-11D-2238-08TCGA-86-8056-10A-01D-2238-08g.chr13:41705320C>Tc.1328G>Ac.(1327-1329)cGa>cAap.R443Q
LUAD134170537441705374+Missense_MutationSNPCCTTCGA-17-Z037-01A-01W-0746-08TCGA-17-Z037-11A-01W-0746-08g.chr13:41705374C>Tc.1274G>Ac.(1273-1275)cGt>cAtp.R425H
LUAD134170541041705410+Missense_MutationSNPTTCTCGA-55-8203-01A-11D-2238-08TCGA-55-8203-10A-01D-2238-08g.chr13:41705410T>Cc.1238A>Gc.(1237-1239)aAt>aGtp.N413S
LUAD134170543941705439+SilentSNPTTCTCGA-05-4410-01A-21D-1855-08TCGA-05-4410-10A-01D-1855-08g.chr13:41705439T>Cc.1209A>Gc.(1207-1209)acA>acGp.T403T
LUAD134170556541705565+SilentSNPTTATCGA-38-4626-01A-01D-1553-08TCGA-38-4626-11A-01D-1553-08g.chr13:41705565T>Ac.1083A>Tc.(1081-1083)ccA>ccTp.P361P
LUAD134170601241706012+Missense_MutationSNPCCATCGA-67-3771-01A-01D-1040-01TCGA-67-3771-10A-01D-1040-01g.chr13:41706012C>Ac.636G>Tc.(634-636)gaG>gaTp.E212D
LUAD134170631241706312+SilentSNPCCATCGA-NJ-A55A-01A-11D-A25L-08TCGA-NJ-A55A-10A-01D-A25L-08g.chr13:41706312C>Ac.336G>Tc.(334-336)gtG>gtTp.V112V
LUAD134170637441706374+Missense_MutationSNPCCTTCGA-62-A46P-01A-11D-A24D-08TCGA-62-A46P-10A-01D-A24F-08g.chr13:41706374C>Tc.274G>Ac.(274-276)Gca>Acap.A92T
LUSC134170462441704624+SilentSNPCCTTCGA-22-5477-01A-01D-1632-08TCGA-22-5477-11A-11D-1632-08g.chr13:41704624C>Tc.2024G>Ac.(2023-2025)tGa>tAap.*675*
LUSC134170615141706151+Missense_MutationSNPCCATCGA-66-2727-01A-01D-0983-08TCGA-66-2727-11A-01D-0983-08g.chr13:41706151C>Ac.497G>Tc.(496-498)cGa>cTap.R166L
LUSC134170634841706348+Missense_MutationSNPGGCTCGA-60-2698-01A-01D-1522-08TCGA-60-2698-11A-01D-1522-08g.chr13:41706348G>Cc.300C>Gc.(298-300)ttC>ttGp.F100L
OV134170516741705167+Missense_MutationSNPAACTCGA-24-1104-01A-01W-0488-09TCGA-24-1104-10A-01W-0488-09g.chr13:41705167A>Cc.1481T>Gc.(1480-1482)aTg>aGgp.M494R
OV134170538641705386+Missense_MutationSNPCCTTCGA-23-1111-01A-01W-0639-09TCGA-23-1111-10C-01W-0639-09g.chr13:41705386C>Tc.1262G>Ac.(1261-1263)cGc>cAcp.R421H
PAAD134170588841705888+Missense_MutationSNPGGATCGA-LB-A8F3-01A-11D-A36O-08TCGA-LB-A8F3-10A-01D-A367-08g.chr13:41705888G>Ac.760C>Tc.(760-762)Cgg>Tggp.R254W
PRAD134170528041705280+SilentSNPGGATCGA-XK-AAIW-01A-11D-A41K-08TCGA-XK-AAIW-10A-01D-A41N-08g.chr13:41705280G>Ac.1368C>Tc.(1366-1368)tgC>tgTp.C456C
PRAD134170546141705461+Missense_MutationSNPTTATCGA-HC-8213-01A-11D-A29Q-08TCGA-HC-8213-10A-01D-A29Q-08g.chr13:41705461T>Ac.1187A>Tc.(1186-1188)tAt>tTtp.Y396F
READ134170463341704633+Missense_MutationSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr13:41704633G>Ac.2015C>Tc.(2014-2016)gCg>gTgp.A672V
READ134170509141705091+SilentSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr13:41705091G>Ac.1557C>Tc.(1555-1557)tgC>tgTp.C519C
SARC134170481041704811+Frame_Shift_InsINS--ATCGA-3B-A9HT-01A-11D-A38Z-09TCGA-3B-A9HT-10A-01D-A38Z-09g.chr13:41704810_41704811insAc.1837_1838insTc.(1837-1839)tgcfsp.C613fs
SKCM134170526641705266+Missense_MutationSNPCCTTCGA-EE-A29R-06A-11D-A197-08TCGA-EE-A29R-10A-01D-A199-08g.chr13:41705266C>Tc.1382G>Ac.(1381-1383)aGa>aAap.R461K
SKCM134170531441705314+Missense_MutationSNPGGATCGA-D3-A3C7-06A-11D-A196-08TCGA-D3-A3C7-10A-01D-A198-08g.chr13:41705314G>Ac.1334C>Tc.(1333-1335)cCt>cTtp.P445L
SKCM134170538741705387+Missense_MutationSNPGGATCGA-FS-A1ZW-06A-12D-A197-08TCGA-FS-A1ZW-10A-01D-A199-08g.chr13:41705387G>Ac.1261C>Tc.(1261-1263)Cgc>Tgcp.R421C
SKCM134170599841705998+Missense_MutationSNPAAGTCGA-D9-A6EC-06A-11D-A30X-08TCGA-D9-A6EC-10A-01D-A30X-08g.chr13:41705998A>Gc.650T>Cc.(649-651)cTg>cCgp.L217P
SKCM134170622441706224+Missense_MutationSNPCCGTCGA-EE-A2MH-06A-11D-A197-08TCGA-EE-A2MH-10A-01D-A199-08g.chr13:41706224C>Gc.424G>Cc.(424-426)Gag>Cagp.E142Q
SKCM134170625141706251+Missense_MutationSNPGGATCGA-D3-A3ML-06A-11D-A21A-08TCGA-D3-A3ML-10A-01D-A21A-08g.chr13:41706251G>Ac.397C>Tc.(397-399)Cgt>Tgtp.R133C
SKCM134170652541706525+Missense_MutationSNPCCATCGA-D3-A1QB-06A-11D-A19A-08TCGA-D3-A1QB-10A-01D-A19A-08g.chr13:41706525C>Ac.123G>Tc.(121-123)aaG>aaTp.K41N
SKCM134170658041706580+Missense_MutationSNPTTCTCGA-FS-A1Z4-06A-11D-A197-08TCGA-FS-A1Z4-10A-01D-A199-08g.chr13:41706580T>Cc.68A>Gc.(67-69)aAg>aGgp.K23R
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN134170472141704721single base substitutionCTmissense_variantE577K1729G>A
BLCA-CN134170472141704721single base substitutionCTmissense_variantE643K1927G>A
BLCA-CN134170631241706312single base substitutionCTsynonymous_variantV112V336G>A
BLCA-CN134170631241706312single base substitutionCTsynonymous_variantV46V138G>A
BLCA-US134170501641705016single base substitutionCGmissense_variantW478C1434G>C
BLCA-US134170501641705016single base substitutionCGmissense_variantW544C1632G>C
BLCA-US134170509941705099single base substitutionCTmissense_variantE451K1351G>A
BLCA-US134170509941705099single base substitutionCTmissense_variantE517K1549G>A
BLCA-US134170545041705450single base substitutionGAstop_gainedQ334*1000C>T
BLCA-US134170545041705450single base substitutionGAstop_gainedQ400*1198C>T
BLCA-US134170561341705613single base substitutionCAmissense_variantM279I837G>T
BLCA-US134170561341705613single base substitutionCAmissense_variantM345I1035G>T
BLCA-US134170618841706188single base substitutionCTmissense_variantE154K460G>A
BLCA-US134170618841706188single base substitutionCTmissense_variantE88K262G>A
BLCA-US134170633241706332single base substitutionCGintron_variant
BLCA-US134170633241706332single base substitutionCGmissense_variantE106Q316G>C
BRCA-EU134169741941697419single base substitutionCGdownstream_gene_variant
BRCA-EU134169798341697983single base substitutionCTdownstream_gene_variant
BRCA-EU134169924941699249single base substitutionGCdownstream_gene_variant
BRCA-EU134169999941699999single base substitutionCGdownstream_gene_variant
BRCA-EU134170071141700711single base substitutionGTdownstream_gene_variant
BRCA-EU134170123041701230single base substitutionCTdownstream_gene_variant
BRCA-EU134170402441704024single base substitutionGA3_prime_UTR_variant
BRCA-EU134170402441704024single base substitutionGAdownstream_gene_variant
BRCA-EU134170532241705322insertion of <=200bp-Cframeshift_variantG376G?
BRCA-EU134170532241705322insertion of <=200bp-Cframeshift_variantG442G?
BRCA-EU134170593741705937single base substitutionCTsynonymous_variantQ171Q513G>A
BRCA-EU134170593741705937single base substitutionCTsynonymous_variantQ237Q711G>A
BRCA-EU134170694741706947single base substitutionAGupstream_gene_variant
BRCA-EU134170874441708744single base substitutionGAupstream_gene_variant
BRCA-EU134170996541709965single base substitutionCGupstream_gene_variant
BRCA-EU134171146041711460single base substitutionTCupstream_gene_variant
BRCA-FR134170511841705118single base substitutionCTsynonymous_variantL444L1332G>A
BRCA-FR134170511841705118single base substitutionCTsynonymous_variantL510L1530G>A
BRCA-UK134170583441705834single base substitutionCTmissense_variantE206K616G>A
BRCA-UK134170583441705834single base substitutionCTmissense_variantE272K814G>A
BRCA-US134170470341704703single base substitutionATmissense_variantF583I1747T>A
BRCA-US134170470341704703single base substitutionATmissense_variantF649I1945T>A
BRCA-US134170475741704757single base substitutionTCmissense_variantT565A1693A>G
BRCA-US134170475741704757single base substitutionTCmissense_variantT631A1891A>G
BRCA-US134170520141705201single base substitutionGAstop_gainedR417*1249C>T
BRCA-US134170520141705201single base substitutionGAstop_gainedR483*1447C>T
BRCA-US134170526641705266single base substitutionCAmissense_variantR395I1184G>T
BRCA-US134170526641705266single base substitutionCAmissense_variantR461I1382G>T
BRCA-US134170532141705321insertion of <=200bp-Cframeshift_variantR377R?
BRCA-US134170532141705321insertion of <=200bp-Cframeshift_variantR443R?
BRCA-US134170564641705646single base substitutionTGsynonymous_variantP268P804A>C
BRCA-US134170564641705646single base substitutionTGsynonymous_variantP334P1002A>C
BTCA-JP134170509041705090single base substitutionCTmissense_variantV454I1360G>A
BTCA-JP134170509041705090single base substitutionCTmissense_variantV520I1558G>A
BTCA-JP134170625641706256single base substitutionGAmissense_variantT131M392C>T
BTCA-JP134170625641706256single base substitutionGAmissense_variantT65M194C>T
BTCA-JP134170637541706375single base substitutionCTintron_variant
BTCA-JP134170637541706375single base substitutionCTsynonymous_variantA91A273G>A
CLLE-ES134169831041698310single base substitutionCTdownstream_gene_variant
COAD-US134170532141705321insertion of <=200bp-Cframeshift_variantR377R?
COAD-US134170532141705321insertion of <=200bp-Cframeshift_variantR443R?
COAD-US134170601441706014single base substitutionCGmissense_variantE146Q436G>C
COAD-US134170601441706014single base substitutionCGmissense_variantE212Q634G>C
COAD-US134170613341706133single base substitutionTCmissense_variantN106S317A>G
COAD-US134170613341706133single base substitutionTCmissense_variantN172S515A>G
COAD-US134170615241706152single base substitutionGAstop_gainedR100*298C>T
COAD-US134170615241706152single base substitutionGAstop_gainedR166*496C>T
COAD-US134170631641706316single base substitutionCTmissense_variantS111N332G>A
COAD-US134170631641706316single base substitutionCTmissense_variantS45N134G>A
COAD-US134170639741706397single base substitutionCTintron_variant
COAD-US134170639741706397single base substitutionCTmissense_variantC84Y251G>A
COCA-CN134170305441703054single base substitutionCT3_prime_UTR_variant
COCA-CN134170305441703054single base substitutionCTdownstream_gene_variant
COCA-CN134170483141704831single base substitutionTGmissense_variantQ540P1619A>C
COCA-CN134170483141704831single base substitutionTGmissense_variantQ606P1817A>C
COCA-CN134170492741704927single base substitutionCTmissense_variantR508H1523G>A
COCA-CN134170492741704927single base substitutionCTmissense_variantR574H1721G>A
COCA-CN134170520141705201single base substitutionGAstop_gainedR417*1249C>T
COCA-CN134170520141705201single base substitutionGAstop_gainedR483*1447C>T
COCA-CN134170541341705413single base substitutionTCmissense_variantQ346R1037A>G
COCA-CN134170541341705413single base substitutionTCmissense_variantQ412R1235A>G
ESAD-UK134169743841697438single base substitutionACdownstream_gene_variant
ESAD-UK134169798441697984single base substitutionGAdownstream_gene_variant
ESAD-UK134170010841700108single base substitutionAGdownstream_gene_variant
ESAD-UK134170524641705246single base substitutionCTmissense_variantA402T1204G>A
ESAD-UK134170524641705246single base substitutionCTmissense_variantA468T1402G>A
ESAD-UK134170817041708170single base substitutionCTupstream_gene_variant
ESAD-UK134170827441708274single base substitutionGTupstream_gene_variant
ESAD-UK134171071641710716single base substitutionGCupstream_gene_variant
ESAD-UK134171129541711295single base substitutionTGupstream_gene_variant
ESAD-UK134171169441711694single base substitutionCTupstream_gene_variant
GBM-US134170521241705212single base substitutionAGmissense_variantL413P1238T>C
GBM-US134170521241705212single base substitutionAGmissense_variantL479P1436T>C
GBM-US134170538141705381single base substitutionGAsynonymous_variantL357L1069C>T
GBM-US134170538141705381single base substitutionGAsynonymous_variantL423L1267C>T
KIRC-US134170475841704758single base substitutionGAsynonymous_variantL564L1692C>T
KIRC-US134170475841704758single base substitutionGAsynonymous_variantL630L1890C>T
KIRC-US134170602641706026single base substitutionACmissense_variantS142A424T>G
KIRC-US134170602641706026single base substitutionACmissense_variantS208A622T>G
KIRC-US134170639441706394single base substitutionTCintron_variant
KIRC-US134170639441706394single base substitutionTCmissense_variantN85S254A>G
KIRP-US134170490641704906single base substitutionTCmissense_variantN515S1544A>G
KIRP-US134170490641704906single base substitutionTCmissense_variantN581S1742A>G
KIRP-US134170561041705612deletion of <=200bpCAC-inframe_deletionV280
KIRP-US134170561041705612deletion of <=200bpCAC-inframe_deletionV346
KIRP-US134170634041706340single base substitutionCTintron_variant
KIRP-US134170634041706340single base substitutionCTmissense_variantG103D308G>A
LICA-FR134170527341705273insertion of <=200bp-AAAGCAAGTTACCGTTTTTTframeshift_variantV393EKTVTCF?
LICA-FR134170527341705273insertion of <=200bp-AAAGCAAGTTACCGTTTTTTframeshift_variantV459EKTVTCF?
LICA-FR134170535541705355single base substitutionTCsynonymous_variantA365A1095A>G
LICA-FR134170535541705355single base substitutionTCsynonymous_variantA431A1293A>G
LICA-FR134170599041705990single base substitutionCTmissense_variantA154T460G>A
LICA-FR134170599041705990single base substitutionCTmissense_variantA220T658G>A
LICA-FR134170603941706039single base substitutionGAsynonymous_variantL137L411C>T
LICA-FR134170603941706039single base substitutionGAsynonymous_variantL203L609C>T
LINC-JP134170412741704127single base substitutionCA3_prime_UTR_variant
LINC-JP134170412741704127single base substitutionCAdownstream_gene_variant
LINC-JP134170506641705066single base substitutionTCmissense_variantI462V1384A>G
LINC-JP134170506641705066single base substitutionTCmissense_variantI528V1582A>G
LINC-JP134170553341705533single base substitutionGTmissense_variantP306H917C>A
LINC-JP134170553341705533single base substitutionGTmissense_variantP372H1115C>A
LINC-JP134170912041709120single base substitutionTCupstream_gene_variant
LIRI-JP134169721241697212single base substitutionGTdownstream_gene_variant
LIRI-JP134170187441701874single base substitutionAT3_prime_UTR_variant
LIRI-JP134170187441701874single base substitutionATdownstream_gene_variant
LIRI-JP134170224341702243single base substitutionTG3_prime_UTR_variant
LIRI-JP134170224341702243single base substitutionTGdownstream_gene_variant
LIRI-JP134170463941704639single base substitutionCTmissense_variantR604H1811G>A
LIRI-JP134170463941704639single base substitutionCTmissense_variantR670H2009G>A
LIRI-JP134170514341705143single base substitutionTCmissense_variantN436S1307A>G
LIRI-JP134170514341705143single base substitutionTCmissense_variantN502S1505A>G
LIRI-JP134170993541709935single base substitutionCGupstream_gene_variant
LIRI-JP134171030541710318deletion of <=200bpCCTCCCAGGGATAT-upstream_gene_variant
LUSC-KR134169861041698610single base substitutionGAdownstream_gene_variant
LUSC-KR134170463341704633single base substitutionGCmissense_variantA606G1817C>G
LUSC-KR134170463341704633single base substitutionGCmissense_variantA672G2015C>G
LUSC-KR134170509641705096single base substitutionCAmissense_variantA452S1354G>T
LUSC-KR134170509641705096single base substitutionCAmissense_variantA518S1552G>T
LUSC-KR134170858841708588single base substitutionGCupstream_gene_variant
LUSC-US134170462441704624single base substitutionCTstop_retained_variant*609*1826G>A
LUSC-US134170462441704624single base substitutionCTstop_retained_variant*675*2024G>A
LUSC-US134170615141706151single base substitutionCAmissense_variantR100L299G>T
LUSC-US134170615141706151single base substitutionCAmissense_variantR166L497G>T
LUSC-US134170634841706348single base substitutionGCintron_variant
LUSC-US134170634841706348single base substitutionGCmissense_variantF100L300C>G
MALY-DE134169960641699606single base substitutionGAdownstream_gene_variant
MALY-DE134170261141702611single base substitutionAC3_prime_UTR_variant
MALY-DE134170261141702611single base substitutionACdownstream_gene_variant
MALY-DE134170649241706492single base substitutionCTintron_variant
MALY-DE134170649241706492single base substitutionCTsynonymous_variantQ52Q156G>A
MELA-AU134169701241697012single base substitutionGAdownstream_gene_variant
MELA-AU134169738341697383single base substitutionGAdownstream_gene_variant
MELA-AU134169756641697566single base substitutionACdownstream_gene_variant
MELA-AU134169791541697915single base substitutionGAdownstream_gene_variant
MELA-AU134169810741698107single base substitutionATdownstream_gene_variant
MELA-AU134169822641698226single base substitutionGAdownstream_gene_variant
MELA-AU134169857041698570single base substitutionGAdownstream_gene_variant
MELA-AU134169875541698755single base substitutionGTdownstream_gene_variant
MELA-AU134169886341698863single base substitutionAGdownstream_gene_variant
MELA-AU134169929441699294single base substitutionGAdownstream_gene_variant
MELA-AU134169970341699703single base substitutionGAdownstream_gene_variant
MELA-AU134169985241699852single base substitutionGAdownstream_gene_variant
MELA-AU134169999341699993single base substitutionGAdownstream_gene_variant
MELA-AU134170041541700415single base substitutionGAdownstream_gene_variant
MELA-AU134170061841700618single base substitutionGAdownstream_gene_variant
MELA-AU134170143341701433single base substitutionGAdownstream_gene_variant
MELA-AU134170382741703827single base substitutionGA3_prime_UTR_variant
MELA-AU134170382741703827single base substitutionGAdownstream_gene_variant
MELA-AU134170558541705585single base substitutionGAmissense_variantP289S865C>T
MELA-AU134170558541705585single base substitutionGAmissense_variantP355S1063C>T
MELA-AU134170654641706546single base substitutionGAsynonymous_variantF34F102C>T
MELA-AU134170660041706600single base substitutionGAsynonymous_variantP16P48C>T
MELA-AU134170668941706689single base substitutionGA5_prime_UTR_premature_start_codon_gain_variant
MELA-AU134170700941707009single base substitutionCTupstream_gene_variant
MELA-AU134170702541707025single base substitutionGAupstream_gene_variant
MELA-AU134170749941707500deletion of <=200bpGT-upstream_gene_variant
MELA-AU134170768241707682single base substitutionCTupstream_gene_variant
MELA-AU134170770741707707single base substitutionCGupstream_gene_variant
MELA-AU134170803241708032single base substitutionCTupstream_gene_variant
MELA-AU134170847341708473single base substitutionGTupstream_gene_variant
MELA-AU134170888441708884single base substitutionAGupstream_gene_variant
MELA-AU134170890441708904single base substitutionCTupstream_gene_variant
MELA-AU134170896441708965multiple base substitution (>=2bp and <=200bp)CCTTupstream_gene_variant
MELA-AU134170897741708977single base substitutionCTupstream_gene_variant
MELA-AU134170966441709664single base substitutionGAupstream_gene_variant
MELA-AU134170967841709678single base substitutionCTupstream_gene_variant
MELA-AU134170974241709742single base substitutionTCupstream_gene_variant
MELA-AU134171033441710334single base substitutionCTupstream_gene_variant
MELA-AU134171041641710416single base substitutionGTupstream_gene_variant
MELA-AU134171057941710579single base substitutionCTupstream_gene_variant
MELA-AU134171063541710635single base substitutionCTupstream_gene_variant
MELA-AU134171083041710830single base substitutionGAupstream_gene_variant
MELA-AU134171084841710848single base substitutionGAupstream_gene_variant
MELA-AU134171140741711407single base substitutionCTupstream_gene_variant
MELA-AU134171145841711458single base substitutionCTupstream_gene_variant
MELA-AU134171145941711459single base substitutionCTupstream_gene_variant
ORCA-IN134170472541704725single base substitutionGAsynonymous_variantS575S1725C>T
ORCA-IN134170472541704725single base substitutionGAsynonymous_variantS641S1923C>T
ORCA-IN134170565441705654single base substitutionCGmissense_variantE266Q796G>C
ORCA-IN134170565441705654single base substitutionCGmissense_variantE332Q994G>C
ORCA-IN134170599741705997single base substitutionCTsynonymous_variantL151L453G>A
ORCA-IN134170599741705997single base substitutionCTsynonymous_variantL217L651G>A
OV-AU134169684141696841single base substitutionTGdownstream_gene_variant
OV-AU134169899641698996single base substitutionATdownstream_gene_variant
OV-AU134170114941701149single base substitutionTCdownstream_gene_variant
OV-AU134170199541701995single base substitutionGC3_prime_UTR_variant
OV-AU134170199541701995single base substitutionGCdownstream_gene_variant
OV-AU134170889441708894single base substitutionCTupstream_gene_variant
OV-AU134170903441709034single base substitutionGCupstream_gene_variant
OV-US134170516741705167single base substitutionACmissense_variantM428R1283T>G
OV-US134170516741705167single base substitutionACmissense_variantM494R1481T>G
PACA-AU134169852841698528single base substitutionCAdownstream_gene_variant
PACA-AU134170354241703542single base substitutionGA3_prime_UTR_variant
PACA-AU134170354241703542single base substitutionGAdownstream_gene_variant
PACA-AU134170920841709208insertion of <=200bp-Aupstream_gene_variant
PACA-CA134169724741697247single base substitutionGCdownstream_gene_variant
PACA-CA134170128841701288single base substitutionTGdownstream_gene_variant
PACA-CA134170220241702202single base substitutionGC3_prime_UTR_variant
PACA-CA134170220241702202single base substitutionGCdownstream_gene_variant
PACA-CA134170420741704207single base substitutionAG3_prime_UTR_variant
PACA-CA134170420741704207single base substitutionAGdownstream_gene_variant
PACA-CA134170625541706255single base substitutionCTsynonymous_variantT131T393G>A
PACA-CA134170625541706255single base substitutionCTsynonymous_variantT65T195G>A
PACA-CA134170818841708188single base substitutionGAupstream_gene_variant
PACA-CA134170874441708744single base substitutionGAupstream_gene_variant
PACA-CA134170992341709923single base substitutionCTupstream_gene_variant
PAEN-IT134170801041708010single base substitutionCGupstream_gene_variant
PBCA-DE134169802541698025single base substitutionCAdownstream_gene_variant
PBCA-DE134171101041711010single base substitutionGAupstream_gene_variant
PRAD-CA134170544541705445single base substitutionGCsynonymous_variantP335P1005C>G
PRAD-CA134170544541705445single base substitutionGCsynonymous_variantP401P1203C>G
PRAD-UK134170786641707866single base substitutionAGupstream_gene_variant
PRAD-US134170544041705440single base substitutionGTmissense_variantT337K1010C>A
PRAD-US134170544041705440single base substitutionGTmissense_variantT403K1208C>A
PRAD-US134170546141705461single base substitutionTAmissense_variantY330F989A>T
PRAD-US134170546141705461single base substitutionTAmissense_variantY396F1187A>T
READ-US134170516341705163single base substitutionGAsynonymous_variantF429F1287C>T
READ-US134170516341705163single base substitutionGAsynonymous_variantF495F1485C>T
READ-US134170520141705201single base substitutionGAstop_gainedR417*1249C>T
READ-US134170520141705201single base substitutionGAstop_gainedR483*1447C>T
RECA-EU134169681641696816single base substitutionGCdownstream_gene_variant
RECA-EU134170199541701995single base substitutionGT3_prime_UTR_variant
RECA-EU134170199541701995single base substitutionGTdownstream_gene_variant
SKCA-BR134169780341697803single base substitutionCAdownstream_gene_variant
SKCA-BR134169866641698666single base substitutionGAdownstream_gene_variant
SKCA-BR134170980741709807single base substitutionCGupstream_gene_variant
SKCM-US134170526641705266single base substitutionCTmissense_variantR395K1184G>A
SKCM-US134170526641705266single base substitutionCTmissense_variantR461K1382G>A
SKCM-US134170531441705314single base substitutionGAmissense_variantP379L1136C>T
SKCM-US134170531441705314single base substitutionGAmissense_variantP445L1334C>T
SKCM-US134170538741705387single base substitutionGAmissense_variantR355C1063C>T
SKCM-US134170538741705387single base substitutionGAmissense_variantR421C1261C>T
SKCM-US134170599841705998single base substitutionAGmissense_variantL151P452T>C
SKCM-US134170599841705998single base substitutionAGmissense_variantL217P650T>C
SKCM-US134170622441706224single base substitutionCGmissense_variantE142Q424G>C
SKCM-US134170622441706224single base substitutionCGmissense_variantE76Q226G>C
SKCM-US134170622841706228single base substitutionGAsynonymous_variantN140N420C>T
SKCM-US134170622841706228single base substitutionGAsynonymous_variantN74N222C>T
SKCM-US134170625141706251single base substitutionGAmissense_variantR133C397C>T
SKCM-US134170625141706251single base substitutionGAmissense_variantR67C199C>T
SKCM-US134170652541706525single base substitutionCAmissense_variantK41N123G>T
SKCM-US134170658041706580single base substitutionTCmissense_variantK23R68A>G
STAD-US134170463941704639single base substitutionCTmissense_variantR604H1811G>A
STAD-US134170463941704639single base substitutionCTmissense_variantR670H2009G>A
STAD-US134170517041705170single base substitutionCTmissense_variantR427H1280G>A
STAD-US134170517041705170single base substitutionCTmissense_variantR493H1478G>A
STAD-US134170532141705321single base substitutionGAstop_gainedR377*1129C>T
STAD-US134170532141705321single base substitutionGAstop_gainedR443*1327C>T
STAD-US134170532241705322insertion of <=200bp-Cframeshift_variantG376G?
STAD-US134170532241705322insertion of <=200bp-Cframeshift_variantG442G?
STAD-US134170532941705329deletion of <=200bpA-frameshift_variantL374
STAD-US134170532941705329deletion of <=200bpA-frameshift_variantL440
STAD-US134170535741705357single base substitutionCTmissense_variantA365T1093G>A
STAD-US134170535741705357single base substitutionCTmissense_variantA431T1291G>A
STAD-US134170536241705362single base substitutionTCmissense_variantD363G1088A>G
STAD-US134170536241705362single base substitutionTCmissense_variantD429G1286A>G
STAD-US134170536641705366single base substitutionTCmissense_variantM362V1084A>G
STAD-US134170536641705366single base substitutionTCmissense_variantM428V1282A>G
STAD-US134170538741705387single base substitutionGAmissense_variantR355C1063C>T
STAD-US134170538741705387single base substitutionGAmissense_variantR421C1261C>T
STAD-US134170594641705946single base substitutionCGmissense_variantE168D504G>C
STAD-US134170594641705946single base substitutionCGmissense_variantE234D702G>C
STAD-US134170605341706053single base substitutionTCmissense_variantN133D397A>G
STAD-US134170605341706053single base substitutionTCmissense_variantN199D595A>G
STAD-US134170625241706252single base substitutionATsynonymous_variantG132G396T>A
STAD-US134170625241706252single base substitutionATsynonymous_variantG66G198T>A
STAD-US134170655141706551single base substitutionAGmissense_variantF33L97T>C
UCEC-US134170446641704466single base substitutionCT3_prime_UTR_variant
UCEC-US134170483141704831single base substitutionTCmissense_variantQ540R1619A>G
UCEC-US134170483141704831single base substitutionTCmissense_variantQ606R1817A>G
UCEC-US134170493541704935single base substitutionGAsynonymous_variantI505I1515C>T
UCEC-US134170493541704935single base substitutionGAsynonymous_variantI571I1713C>T
UCEC-US134170520141705201single base substitutionGAstop_gainedR417*1249C>T
UCEC-US134170520141705201single base substitutionGAstop_gainedR483*1447C>T
UCEC-US134170528541705285single base substitutionCTmissense_variantE389K1165G>A
UCEC-US134170528541705285single base substitutionCTmissense_variantE455K1363G>A
UCEC-US134170622141706221single base substitutionGAmissense_variantR143C427C>T
UCEC-US134170622141706221single base substitutionGAmissense_variantR77C229C>T
UCEC-US134170656041706560single base substitutionCTmissense_variantV30I88G>A
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-EE-A2MH-06COSM3468894c.424G>Cp.E142QSubstitution - Missense13:41132088-41132088-
T3024COSM4694124c.1903_1905delGAAp.E635delEDeletion - In frame13:41130607-41130609-
TCGA-D3-A3C7-06COSM3468893c.1334C>Tp.P445LSubstitution - Missense13:41131178-41131178-
PD4127aCOSM161837c.814G>Ap.E272KSubstitution - Missense13:41131698-41131698-
587376COSM1211384c.75T>Gp.I25MSubstitution - Missense13:41132437-41132437-
TCGA-BT-A0YX-01COSM416366c.1549G>Ap.E517KSubstitution - Missense13:41130963-41130963-
HCC105COSM1607081c.1115C>Ap.P372HSubstitution - Missense13:41131397-41131397-
PTC-28CCOSM4147709c.104C>Ap.T35KSubstitution - Missense13:41132408-41132408-
LUAD-E01278COSM225013c.1208C>Ap.T403KSubstitution - Missense13:41131304-41131304-
TCGA-D3-A1QB-06COSM3468897c.123G>Tp.K41NSubstitution - Missense13:41132389-41132389-
TCGA-HC-8213-01COSM4391781c.1187A>Tp.Y396FSubstitution - Missense13:41131325-41131325-
PCSI_0476_Pa_P_526COSM5031323c.393G>Ap.T131TSubstitution - coding silent13:41132119-41132119-
RMS85_COSM947427c.88G>Ap.V30ISubstitution - Missense13:41132424-41132424-
SC_9099COSM1940752c.469C>Tp.R157WSubstitution - Missense13:41132043-41132043-
TCGA-BS-A0UF-01COSM947427c.88G>Ap.V30ISubstitution - Missense13:41132424-41132424-
TCGA-DK-A2I6-01COSM1300201c.460G>Ap.E154KSubstitution - Missense13:41132052-41132052-
CHC1720TCOSM4800599c.609C>Tp.L203LSubstitution - coding silent13:41131903-41131903-
T3024COSM4694128c.676C>Ap.L226MSubstitution - Missense13:41131836-41131836-
TCGA-D9-A6EC-06COSM4401075c.650T>Cp.L217PSubstitution - Missense13:41131862-41131862-
B74-TumorCOSM1747443c.1927G>Ap.E643KSubstitution - Missense13:41130585-41130585-
ME018TCOSM225013c.1208C>Ap.T403KSubstitution - Missense13:41131304-41131304-
XHDG20COSM4768856c.761G>Ap.R254QSubstitution - Missense13:41131751-41131751-
sysucc-311TCOSM947420c.1447C>Tp.R483*Substitution - Nonsense13:41131065-41131065-
CHC1148TCOSM4954804c.1293A>Gp.A431ASubstitution - coding silent13:41131219-41131219-
CHC1720TCOSM4800599c.609C>Tp.L203LSubstitution - coding silent13:41131903-41131903-
CSCC-60-TCOSM4470295c.1652C>Tp.P551LSubstitution - Missense13:41130860-41130860-
TCGA-D8-A1XK-01COSM3813808c.1945T>Ap.F649ISubstitution - Missense13:41130567-41130567-
tumor_4121361COSM3356398c.156G>Ap.Q52QSubstitution - coding silent13:41132356-41132356-
SNU-C2BCOSM1940754c.152C>Tp.A51VSubstitution - Missense13:41132360-41132360-
EGC3COSM3468895c.420C>Tp.N140NSubstitution - coding silent13:41132092-41132092-
1_RESISTANTCOSM1719204c.1273C>Tp.R425CSubstitution - Missense13:41131239-41131239-
TCGA-24-1104-01COSM75066c.1481T>Gp.M494RSubstitution - Missense13:41131031-41131031-
ME041TCOSM228156c.751C>Gp.P251ASubstitution - Missense13:41131761-41131761-
RMS88_COSM947427c.88G>Ap.V30ISubstitution - Missense13:41132424-41132424-
SNUH_G76_S1COSM4418392c.20C>Tp.A7VSubstitution - Missense13:41132492-41132492-
EWS502COSM4575933c.423G>Ap.V141VSubstitution - coding silent13:41132089-41132089-
PGBM18PTCOSM1579828c.50G>Cp.R17PSubstitution - Missense13:41132462-41132462-
MOLT-4COSM1677628c.565C>Tp.R189*Substitution - Nonsense13:41131947-41131947-
TCGA-EJ-5509-01COSM225013c.1208C>Ap.T403KSubstitution - Missense13:41131304-41131304-
TCGA-AA-A010-01COSM282059c.137C>Ap.S46YSubstitution - Missense13:41132375-41132375-
I2L-P19Ta-Tumor-BiopsyCOSM1366891c.1326_1327insGp.R443fs*8Insertion - Frameshift13:41131185-41131186-
HCC89TCOSM1607080c.1582A>Gp.I528VSubstitution - Missense13:41130930-41130930-
TCGA-66-2727-01COSM696569c.497G>Tp.R166LSubstitution - Missense13:41132015-41132015-
TCGA-D7-6518-01COSM4047611c.702G>Cp.E234DSubstitution - Missense13:41131810-41131810-
MedB-1COSM5621074c.128C>Tp.T43MSubstitution - Missense13:41132384-41132384-
TCGA-EI-6917-01COSM947420c.1447C>Tp.R483*Substitution - Nonsense13:41131065-41131065-
BD49TCOSM5498105c.1558G>Ap.V520ISubstitution - Missense13:41130954-41130954-
CHC892TCOSM4798593c.658G>Ap.A220TSubstitution - Missense13:41131854-41131854-
TCGA-EE-A29R-06COSM3468892c.1382G>Ap.R461KSubstitution - Missense13:41131130-41131130-
TCGA-B5-A0K6-01COSM947422c.1148C>Tp.T383ISubstitution - Missense13:41131364-41131364-
TCGA-AA-3492-01COSM1366891c.1326_1327insGp.R443fs*8Insertion - Frameshift13:41131185-41131186-
CHEWS031COSM4575934c.174T>Cp.D58DSubstitution - coding silent13:41132338-41132338-
TCGA-60-2698-01COSM696568c.300C>Gp.F100LSubstitution - Missense13:41132212-41132212-
TCGA-FS-A1Z4-06COSM3468898c.68A>Gp.K23RSubstitution - Missense13:41132444-41132444-
TCGA-BR-8680-01COSM282058c.1261C>Tp.R421CSubstitution - Missense13:41131251-41131251-
TCGA-AO-A128-01COSM3813809c.1891A>Gp.T631ASubstitution - Missense13:41130621-41130621-
TCGA-EI-6917-01COSM3749247c.1485C>Tp.F495FSubstitution - coding silent13:41131027-41131027-
LUAD-VUMN6COSM347846c.225G>Tp.G75GSubstitution - coding silent13:41132287-41132287-
TCGA-CD-A4MG-01COSM1211380c.2009G>Ap.R670HSubstitution - Missense13:41130503-41130503-
T3658COSM4694125c.1760A>Gp.E587GSubstitution - Missense13:41130752-41130752-
587376COSM1211383c.1736A>Cp.K579TSubstitution - Missense13:41130776-41130776-
CPCG0387-F1COSM4880592c.1203C>Gp.P401PSubstitution - coding silent13:41131309-41131309-
TCGA-CF-A1HS-01COSM416365c.1198C>Tp.Q400*Substitution - Nonsense13:41131314-41131314-
TCGA-A8-A097-01COSM1366891c.1326_1327insGp.R443fs*8Insertion - Frameshift13:41131185-41131186-
TCGA-AP-A05N-01COSM947424c.792C>Tp.C264CSubstitution - coding silent13:41131720-41131720-
TCGA-AA-3833-01COSM271328c.523G>Ap.A175TSubstitution - Missense13:41131989-41131989-
587284COSM1211382c.2008C>Tp.R670CSubstitution - Missense13:41130504-41130504-
TCGA-BR-4184-01COSM4047608c.1291G>Ap.A431TSubstitution - Missense13:41131221-41131221-
LUAD-S01405COSM228156c.751C>Gp.P251ASubstitution - Missense13:41131761-41131761-
TCGA-BQ-7053-01COSM3987399c.308G>Ap.G103DSubstitution - Missense13:41132204-41132204-
OSCC-GB_00350111COSM3711081c.1923C>Tp.S641SSubstitution - coding silent13:41130589-41130589-
TCGA-AP-A05N-01COSM947423c.1108C>Tp.P370SSubstitution - Missense13:41131404-41131404-
7COSM4214829c.1076G>Ap.C359YSubstitution - Missense13:41131436-41131436-
TCGA-FS-A1ZW-06COSM282058c.1261C>Tp.R421CSubstitution - Missense13:41131251-41131251-
TCGA-AP-A059-01COSM947421c.1363G>Ap.E455KSubstitution - Missense13:41131149-41131149-
TCGA-AX-A1CP-01COSM225013c.1208C>Ap.T403KSubstitution - Missense13:41131304-41131304-
TCGA-BS-A0UV-01COSM947420c.1447C>Tp.R483*Substitution - Nonsense13:41131065-41131065-
RK067_C01COSM1211380c.2009G>Ap.R670HSubstitution - Missense13:41130503-41130503-
TCGA-AN-A046-01COSM947420c.1447C>Tp.R483*Substitution - Nonsense13:41131065-41131065-
CSCC-54-TCOSM4466310c.1427C>Tp.S476FSubstitution - Missense13:41131085-41131085-
TCGA-BR-4184-01COSM3729584c.1478G>Ap.R493HSubstitution - Missense13:41131034-41131034-
TCGA-BR-6452-01COSM4047613c.396T>Ap.G132GSubstitution - coding silent13:41132116-41132116-
CHC218TCOSM5352401c.1374_1375ins20p.V459fs*4Insertion - Frameshift13:41131137-41131138-
J90_TCOSM1940740c.1552G>Tp.A518SSubstitution - Missense13:41130960-41130960-
ME016TCOSM225013c.1208C>Ap.T403KSubstitution - Missense13:41131304-41131304-
12TCOSM108754c.46C>Tp.P16SSubstitution - Missense13:41132466-41132466-
OSCC-GB_00330111COSM3711082c.994G>Cp.E332QSubstitution - Missense13:41131518-41131518-
TCGA-BT-A0YX-01COSM416367c.1632G>Cp.W544CSubstitution - Missense13:41130880-41130880-
35TCOSM3711081c.1923C>Tp.S641SSubstitution - coding silent13:41130589-41130589-
CHC1148TCOSM4954804c.1293A>Gp.A431ASubstitution - coding silent13:41131219-41131219-
I2L-P19Ta-Tumor-OrganoidCOSM1366891c.1326_1327insGp.R443fs*8Insertion - Frameshift13:41131185-41131186-
TCGA-BR-4361-01COSM4047609c.1286A>Gp.D429GSubstitution - Missense13:41131226-41131226-
ME021TCOSM225013c.1208C>Ap.T403KSubstitution - Missense13:41131304-41131304-
pfg129TCOSM3729584c.1478G>Ap.R493HSubstitution - Missense13:41131034-41131034-
HCC105TCOSM1607081c.1115C>Ap.P372HSubstitution - Missense13:41131397-41131397-
TCGA-B0-5098-01COSM1493200c.1284G>Tp.M428ISubstitution - Missense13:41131228-41131228-
TCGA-HU-8608-01COSM4047614c.97T>Cp.F33LSubstitution - Missense13:41132415-41132415-
B74COSM1747443c.1927G>Ap.E643KSubstitution - Missense13:41130585-41130585-
XHDG27COSM4575934c.174T>Cp.D58DSubstitution - coding silent13:41132338-41132338-
TCGA-AD-6895-01COSM1366896c.251G>Ap.C84YSubstitution - Missense13:41132261-41132261-
TCGA-AA-A010-01COSM282058c.1261C>Tp.R421CSubstitution - Missense13:41131251-41131251-
TCGA-06-0185-01COSM3399370c.1267C>Tp.L423LSubstitution - coding silent13:41131245-41131245-
TCGA-AZ-6598-01COSM1366894c.496C>Tp.R166*Substitution - Nonsense13:41132016-41132016-
LUAD-YINHDCOSM348840c.1305C>Ap.G435GSubstitution - coding silent13:41131207-41131207-
587220COSM1211380c.2009G>Ap.R670HSubstitution - Missense13:41130503-41130503-
TCGA-D1-A16S-01COSM947425c.733C>Ap.Q245KSubstitution - Missense13:41131779-41131779-
CSCC-35-TCOSM4481153c.248C>Tp.P83LSubstitution - Missense13:41132264-41132264-
TCGA-23-1111-01COSM1322891c.1262G>Ap.R421HSubstitution - Missense13:41131250-41131250-
RK046_C01COSM1629104c.1505A>Gp.N502SSubstitution - Missense13:41131007-41131007-
EGC3COSM5052167c.1326delGp.R443fs*9Deletion - Frameshift13:41131186-41131186-
P04-2740COSM225013c.1208C>Ap.T403KSubstitution - Missense13:41131304-41131304-
BD72TCOSM5512984c.392C>Tp.T131MSubstitution - Missense13:41132120-41132120-
TCGA-AA-A010-01COSM282057c.1679G>Tp.R560ISubstitution - Missense13:41130833-41130833-
T3262COSM4694126c.1146C>Ap.V382VSubstitution - coding silent13:41131366-41131366-
TCGA-HJ-7597-01COSM4047610c.1282A>Gp.M428VSubstitution - Missense13:41131230-41131230-
TCGA-CJ-5675-01COSM469429c.622T>Gp.S208ASubstitution - Missense13:41131890-41131890-
B80-TumorCOSM1747444c.336G>Ap.V112VSubstitution - coding silent13:41132176-41132176-
B80COSM1747444c.336G>Ap.V112VSubstitution - coding silent13:41132176-41132176-
TCGA-D1-A15W-01COSM947428c.13G>Ap.E5KSubstitution - Missense13:41132499-41132499-
Pat_41_BCOSM5842529c.1932G>Ap.W644*Substitution - Nonsense13:41130580-41130580-
TCGA-AX-A0J0-01COSM947420c.1447C>Tp.R483*Substitution - Nonsense13:41131065-41131065-
TCGA-BR-4256-01COSM4047607c.1327C>Tp.R443*Substitution - Nonsense13:41131185-41131185-
XHDG27COSM4769230c.261T>Cp.N87NSubstitution - coding silent13:41132251-41132251-
TCGA-B5-A0JY-01COSM947417c.1817A>Gp.Q606RSubstitution - Missense13:41130695-41130695-
TCGA-AA-3663-01COSM1366893c.515A>Gp.N172SSubstitution - Missense13:41131997-41131997-
587222COSM947420c.1447C>Tp.R483*Substitution - Nonsense13:41131065-41131065-
sysucc-1247TCOSM5764637c.1235A>Gp.Q412RSubstitution - Missense13:41131277-41131277-
HCC89COSM1607080c.1582A>Gp.I528VSubstitution - Missense13:41130930-41130930-
1428_TCOSM3955593c.762G>Tp.R254RSubstitution - coding silent13:41131750-41131750-
TCGA-28-5208-01COSM3399369c.1436T>Cp.L479PSubstitution - Missense13:41131076-41131076-
TCGA-BP-5196-01COSM469430c.254A>Gp.N85SSubstitution - Missense13:41132258-41132258-
33TCOSM3711082c.994G>Cp.E332QSubstitution - Missense13:41131518-41131518-
TCGA-D1-A0ZS-01COSM947418c.1714A>Gp.T572ASubstitution - Missense13:41130798-41130798-
169COSM3729584c.1478G>Ap.R493HSubstitution - Missense13:41131034-41131034-
CSCC-2-TCOSM4523267c.1206G>Ap.R402RSubstitution - coding silent13:41131306-41131306-
T3262COSM4694127c.1094A>Gp.D365GSubstitution - Missense13:41131418-41131418-
sysucc-1163TCOSM5156160c.1721G>Ap.R574HSubstitution - Missense13:41130791-41130791-
TCGA-G4-6628-01COSM1366895c.332G>Ap.S111NSubstitution - Missense13:41132180-41132180-
TCGA-AN-A046-01COSM3813810c.1382G>Tp.R461ISubstitution - Missense13:41131130-41131130-
TCGA-A8-A0A6-01COSM3813811c.1002A>Cp.P334PSubstitution - coding silent13:41131510-41131510-
TCGA-D5-6535-01COSM1366892c.634G>Cp.E212QSubstitution - Missense13:41131878-41131878-
LUAD-S01404COSM225013c.1208C>Ap.T403KSubstitution - Missense13:41131304-41131304-
T368COSM1366891c.1326_1327insGp.R443fs*8Insertion - Frameshift13:41131185-41131186-
TCGA-CU-A3KJ-01COSM3793286c.1035G>Tp.M345ISubstitution - Missense13:41131477-41131477-
TCGA-22-5477-01COSM696570c.2024G>Ap.*675*Substitution - coding silent13:41130488-41130488-
587224COSM1211381c.1498A>Gp.S500GSubstitution - Missense13:41131014-41131014-
TCGA-A5-A0GB-01COSM947426c.427C>Tp.R143CSubstitution - Missense13:41132085-41132085-
LPJ023COSM1315944c.1771A>Tp.R591WSubstitution - Missense13:41130741-41130741-
TCGA-B5-A11R-01COSM947419c.1713C>Tp.I571ISubstitution - coding silent13:41130799-41130799-
TCGA-EE-A2MH-06COSM3468895c.420C>Tp.N140NSubstitution - coding silent13:41132092-41132092-
CHC892TCOSM4798593c.658G>Ap.A220TSubstitution - Missense13:41131854-41131854-
TCGA-G9-6342-01COSM3671278c.470G>Tp.R157LSubstitution - Missense13:41132042-41132042-
1_PRE-TREATMENTCOSM1719204c.1273C>Tp.R425CSubstitution - Missense13:41131239-41131239-
TCGA-CG-4442-01COSM4047612c.595A>Gp.N199DSubstitution - Missense13:41131917-41131917-
TCGA-BT-A0YX-01COSM416364c.316G>Cp.E106QSubstitution - Missense13:41132196-41132196-
BK0043COSM4187533c.1798A>Gp.T600ASubstitution - Missense13:41130714-41130714-
TCGA-DZ-6133-01COSM3987398c.1742A>Gp.N581SSubstitution - Missense13:41130770-41130770-
OSCC-GB_01290111COSM5955287c.651G>Ap.L217LSubstitution - coding silent13:41131861-41131861-
DN110DBCOSM5962576c.1530G>Ap.L510LSubstitution - coding silent13:41130982-41130982-
TCGA-D3-A3ML-06COSM3468896c.397C>Tp.R133CSubstitution - Missense13:41132115-41132115-
TCGA-AR-A0TY-01COSM1366891c.1326_1327insGp.R443fs*8Insertion - Frameshift13:41131185-41131186-
LPJ023COSM1315943c.1773G>Tp.R591SSubstitution - Missense13:41130739-41130739-
TCGA-BP-5185-01COSM469428c.1890C>Tp.L630LSubstitution - coding silent13:41130622-41130622-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.53404013q14.11
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACMissensep.M494Rc.1481T>G1341705167OV
ACMissensep.S208Ac.622T>G1341706026RCCC
A-Frameshiftp.L440Wfs*12c.1319delT1341705329STAD
AGMissensep.L479Pc.1436T>C1341705212GBM
AT3-UTRSNV.c.2022+2752T>A1341701874HC
ATMissensep.Y145Nc.433T>A1341706215HNSC
CAMissensep.E212Dc.636G>T1341706012LUAD
CAMissensep.K41Nc.123G>T1341706525CM
CAMissensep.L440Fc.1320G>T1341705328LUAD
CAMissensep.R166Lc.497G>T1341706151LUSC
CGMissensep.E106Qc.316G>C1341706332BLCA
CGMissensep.E142Qc.424G>C1341706224CM
CGMissensep.E234Dc.702G>C1341705946STAD
CGMissensep.W544Cc.1632G>C1341705016BLCA
CT3-UTRSNV.c.2022+2G>A1341704624LUSC
CT3-UTRSNV.c.2022+69G>A1341704557CM
CTMissensep.D58Nc.172G>A1341706476BRCA
CTMissensep.E154Kc.460G>A1341706188BLCA
CTMissensep.E272Kc.814G>A1341705834BRCA
CTMissensep.E517Kc.1549G>A1341705099BLCA
CTMissensep.E587Kc.1759G>A1341704889LUAD
CTMissensep.R425Hc.1274G>A1341705374LUAD
CTMissensep.R461Kc.1382G>A1341705266CM
CTSynonymousp.Q52Qc.156G>A1341706492DLBCL
GAMissensep.P445Lc.1334C>T1341705314CM
GAMissensep.R133Cc.397C>T1341706251CM
GAMissensep.R143Cc.427C>T1341706221UCEC
GAMissensep.R421Cc.1261C>T1341705387CM
GANonsensep.Q400*c.1198C>T1341705450BLCA
GANonsensep.R443*c.1327C>T1341705321STAD
GASynonymousp.I571Ic.1713C>T1341704935UCEC
GASynonymousp.L423Lc.1267C>T1341705381GBM
GASynonymousp.L630Lc.1890C>T1341704758RCCC
GASynonymousp.N140Nc.420C>T1341706228CM
GASynonymousp.P401Pc.1203C>T1341705445CM
GTMissensep.T403Kc.1208C>A1341705440PRAD
TAMissensep.Y396Fc.1187A>T1341705461PRAD
TASynonymousp.P361Pc.1083A>T1341705565LUAD
TCMissensep.K23Rc.68A>G1341706580CM
TCMissensep.N502Sc.1505A>G1341705143HC
TCMissensep.N85Sc.254A>G1341706394RCCC
TCSynonymousp.T403Tc.1209A>G1341705439LUAD