BIRC2
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA11102221266102221266+SilentSNPCCATCGA-4Z-AA7M-01A-11D-A391-08TCGA-4Z-AA7M-10A-01D-A394-08g.chr11:102221266C>Ac.681C>Ac.(679-681)ctC>ctAp.L227L
BLCA11102221618102221618+Missense_MutationSNPGGCTCGA-DK-A6B5-01A-11D-A31L-08TCGA-DK-A6B5-10A-01D-A31J-08g.chr11:102221618G>Cc.939G>Cc.(937-939)ttG>ttCp.L313F
BLCA11102221618102221618+SilentSNPGGATCGA-G2-AA3B-01A-11D-A391-08TCGA-G2-AA3B-10A-01D-A394-08g.chr11:102221618G>Ac.939G>Ac.(937-939)ttG>ttAp.L313L
BLCA11102239086102239086+Missense_MutationSNPGGATCGA-XF-A9T8-01A-11D-A391-08TCGA-XF-A9T8-10A-01D-A394-08g.chr11:102239086G>Ac.1173G>Ac.(1171-1173)atG>atAp.M391I
BLCA11102239153102239153+Missense_MutationSNPCCGTCGA-E7-A7XN-01A-11D-A34U-08TCGA-E7-A7XN-10A-01D-A34X-08g.chr11:102239153C>Gc.1240C>Gc.(1240-1242)Caa>Gaap.Q414E
BRCA11102220963102220963+Missense_MutationSNPGGTTCGA-AN-A046-01A-21W-A050-09TCGA-AN-A046-10A-01W-A055-09g.chr11:102220963G>Tc.378G>Tc.(376-378)aaG>aaTp.K126N
BRCA11102221586102221586+Missense_MutationSNPGGTTCGA-AC-A23H-01A-11D-A159-09TCGA-AC-A23H-11A-12D-A17G-09g.chr11:102221586G>Tc.907G>Tc.(907-909)Gat>Tatp.D303Y
BRCA11102239269102239269+Missense_MutationSNPAACTCGA-AN-A046-01A-21W-A050-09TCGA-AN-A046-10A-01W-A055-09g.chr11:102239269A>Cc.1356A>Cc.(1354-1356)gaA>gaCp.E452D
CESC11102220627102220627+SilentSNPGGATCGA-FU-A3HZ-01A-11D-A20U-09TCGA-FU-A3HZ-10A-01D-A20U-09g.chr11:102220627G>Ac.42G>Ac.(40-42)tcG>tcAp.S14S
CESC11102220740102220740+Missense_MutationSNPCCTTCGA-IR-A3L7-01A-21D-A20U-09TCGA-IR-A3L7-10A-01D-A20U-09g.chr11:102220740C>Tc.155C>Tc.(154-156)aCa>aTap.T52I
CESC11102248819102248819+Missense_MutationSNPCCGTCGA-EK-A2RJ-01A-11D-A18J-09TCGA-EK-A2RJ-10A-01D-A18J-09g.chr11:102248819C>Gc.1762C>Gc.(1762-1764)Cat>Gatp.H588D
CHOL11102221620102221620+Missense_MutationSNPGGCTCGA-3X-AAVE-01A-11D-A417-09TCGA-3X-AAVE-10A-01D-A41A-09g.chr11:102221620G>Cc.941G>Cc.(940-942)aGg>aCgp.R314T
CHOL11102221671102221671+Missense_MutationSNPCCATCGA-W5-AA30-01A-31D-A417-09TCGA-W5-AA30-10A-01D-A41A-09g.chr11:102221671C>Ac.992C>Ac.(991-993)cCa>cAap.P331Q
COAD11102220647102220647+Missense_MutationSNPTTCTCGA-AA-A022-01A-21W-A096-10TCGA-AA-A022-11A-11W-A096-10g.chr11:102220647T>Cc.62T>Cc.(61-63)aTa>aCap.I21T
COAD11102220910102220910+Missense_MutationSNPAATTCGA-D5-6923-01A-11D-1924-10TCGA-D5-6923-10A-01D-1924-10g.chr11:102220910A>Tc.325A>Tc.(325-327)Agc>Tgcp.S109C
COAD11102221039102221039+Missense_MutationSNPTTCTCGA-CM-5861-01A-01D-1650-10TCGA-CM-5861-10A-01D-1650-10g.chr11:102221039T>Cc.454T>Cc.(454-456)Tct>Cctp.S152P
COAD11102221343102221343+Missense_MutationSNPCCATCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr11:102221343C>Ac.758C>Ac.(757-759)tCt>tAtp.S253Y
COAD11102221659102221659+Missense_MutationSNPCCTTCGA-AA-3947-01A-01W-0995-10TCGA-AA-3947-10A-01W-0995-10g.chr11:102221659C>Tc.980C>Tc.(979-981)gCc>gTcp.A327V
COADREAD11102220647102220647+Missense_MutationSNPTTCTCGA-AA-A022-01A-21W-A096-10TCGA-AA-A022-11A-11W-A096-10g.chr11:102220647T>Cc.62T>Cc.(61-63)aTa>aCap.I21T
COADREAD11102220910102220910+Missense_MutationSNPAATTCGA-D5-6923-01A-11D-1924-10TCGA-D5-6923-10A-01D-1924-10g.chr11:102220910A>Tc.325A>Tc.(325-327)Agc>Tgcp.S109C
COADREAD11102221039102221039+Missense_MutationSNPTTCTCGA-CM-5861-01A-01D-1650-10TCGA-CM-5861-10A-01D-1650-10g.chr11:102221039T>Cc.454T>Cc.(454-456)Tct>Cctp.S152P
COADREAD11102221343102221343+Missense_MutationSNPCCATCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr11:102221343C>Ac.758C>Ac.(757-759)tCt>tAtp.S253Y
COADREAD11102221659102221659+Missense_MutationSNPCCTTCGA-AA-3947-01A-01W-0995-10TCGA-AA-3947-10A-01W-0995-10g.chr11:102221659C>Tc.980C>Tc.(979-981)gCc>gTcp.A327V
COADREAD11102233667102233667+Missense_MutationSNPGGTTCGA-AG-3601-01A-01W-0833-10TCGA-AG-3601-10A-01W-0833-10g.chr11:102233667G>Tc.1036G>Tc.(1036-1038)Gat>Tatp.D346Y
COADREAD11102248244102248244+Missense_MutationSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr11:102248244C>Tc.1384C>Tc.(1384-1386)Cgg>Tggp.R462W
DLBC11102248352102248352+Missense_MutationSNPCCGTCGA-FF-8042-01A-11D-2210-10TCGA-FF-8042-10A-01D-2210-10g.chr11:102248352C>Gc.1492C>Gc.(1492-1494)Caa>Gaap.Q498E
ESCA11102233653102233653+Missense_MutationSNPGGATCGA-L5-A8NN-01A-11D-A37C-09TCGA-L5-A8NN-11A-11D-A37F-09g.chr11:102233653G>Ac.1022G>Ac.(1021-1023)gGc>gAcp.G341D
GBM11102220791102220791+Missense_MutationSNPGGTTCGA-06-0141-01A-01D-1490-08TCGA-06-0141-10A-01D-1490-08g.chr11:102220791G>Tc.206G>Tc.(205-207)cGt>cTtp.R69L
GBMLGG11102220791102220791+Missense_MutationSNPGGTTCGA-06-0141-01A-01D-1490-08TCGA-06-0141-10A-01D-1490-08g.chr11:102220791G>Tc.206G>Tc.(205-207)cGt>cTtp.R69L
GBMLGG11102221141102221141+Missense_MutationSNPGGATCGA-FG-7636-01A-11D-2086-08TCGA-FG-7636-10A-01D-2086-08g.chr11:102221141G>Ac.556G>Ac.(556-558)Gcc>Accp.A186T
GBMLGG11102239204102239204+Missense_MutationSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr11:102239204G>Ac.1291G>Ac.(1291-1293)Gtg>Atgp.V431M
HNSC11102220696102220696+Missense_MutationSNPAACTCGA-UF-A7JD-01A-11D-A34J-08TCGA-UF-A7JD-10A-01D-A34M-08g.chr11:102220696A>Cc.111A>Cc.(109-111)caA>caCp.Q37H
HNSC11102220775102220775+Missense_MutationSNPGGATCGA-BA-A8YP-01A-11D-A391-08TCGA-BA-A8YP-10A-01D-A394-08g.chr11:102220775G>Ac.190G>Ac.(190-192)Gaa>Aaap.E64K
HNSC11102233700102233700+Missense_MutationSNPGGCTCGA-BB-4227-01A-01D-1870-08TCGA-BB-4227-10A-01D-1870-08g.chr11:102233700G>Cc.1069G>Cc.(1069-1071)Gaa>Caap.E357Q
KIPAN11102220675102220675+Missense_MutationSNPTTGTCGA-MH-A856-01A-11D-A34Z-10TCGA-MH-A856-10A-01D-A34Z-10g.chr11:102220675T>Gc.90T>Gc.(88-90)gaT>gaGp.D30E
KIPAN11102221130102221130+Missense_MutationSNPGGATCGA-BP-4170-01A-02D-1366-10TCGA-BP-4170-11A-01D-1366-10g.chr11:102221130G>Ac.545G>Ac.(544-546)aGt>aAtp.S182N
KIPAN11102221170102221170+SilentSNPAAGTCGA-5P-A9K2-01A-11D-A42J-10TCGA-5P-A9K2-10A-01D-A42M-10g.chr11:102221170A>Gc.585A>Gc.(583-585)ccA>ccGp.P195P
KIPAN11102221673102221673+Splice_SiteSNPAAGTCGA-CZ-5462-01A-01D-1501-10TCGA-CZ-5462-11A-01D-1501-10g.chr11:102221673A>Gc.994A>Gc.(994-996)Agg>Gggp.R332G
KIPAN11102239263102239263+SilentSNPTTCTCGA-BP-4756-01A-01D-1366-10TCGA-BP-4756-11A-01D-1366-10g.chr11:102239263T>Cc.1350T>Cc.(1348-1350)gcT>gcCp.A450A
KIPAN11102248743102248743+SilentSNPGGATCGA-CJ-4635-01A-02D-1373-10TCGA-CJ-4635-11B-01D-1373-10g.chr11:102248743G>Ac.1686G>Ac.(1684-1686)ttG>ttAp.L562L
KIRC11102221130102221130+Missense_MutationSNPGGATCGA-BP-4170-01A-02D-1366-10TCGA-BP-4170-11A-01D-1366-10g.chr11:102221130G>Ac.545G>Ac.(544-546)aGt>aAtp.S182N
KIRC11102221673102221673+Splice_SiteSNPAAGTCGA-CZ-5462-01A-01D-1501-10TCGA-CZ-5462-11A-01D-1501-10g.chr11:102221673A>Gc.994A>Gc.(994-996)Agg>Gggp.R332G
KIRC11102239263102239263+SilentSNPTTCTCGA-BP-4756-01A-01D-1366-10TCGA-BP-4756-11A-01D-1366-10g.chr11:102239263T>Cc.1350T>Cc.(1348-1350)gcT>gcCp.A450A
KIRC11102248743102248743+SilentSNPGGATCGA-CJ-4635-01A-02D-1373-10TCGA-CJ-4635-11B-01D-1373-10g.chr11:102248743G>Ac.1686G>Ac.(1684-1686)ttG>ttAp.L562L
KIRP11102220675102220675+Missense_MutationSNPTTGTCGA-MH-A856-01A-11D-A34Z-10TCGA-MH-A856-10A-01D-A34Z-10g.chr11:102220675T>Gc.90T>Gc.(88-90)gaT>gaGp.D30E
KIRP11102221170102221170+SilentSNPAAGTCGA-5P-A9K2-01A-11D-A42J-10TCGA-5P-A9K2-10A-01D-A42M-10g.chr11:102221170A>Gc.585A>Gc.(583-585)ccA>ccGp.P195P
LGG11102221141102221141+Missense_MutationSNPGGATCGA-FG-7636-01A-11D-2086-08TCGA-FG-7636-10A-01D-2086-08g.chr11:102221141G>Ac.556G>Ac.(556-558)Gcc>Accp.A186T
LGG11102239204102239204+Missense_MutationSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr11:102239204G>Ac.1291G>Ac.(1291-1293)Gtg>Atgp.V431M
LIHC11102221110102221110+Frame_Shift_DelDELCC-TCGA-DD-A39Y-01A-11D-A20W-10TCGA-DD-A39Y-11A-11D-A20W-10g.chr11:102221110delCc.525delCc.(523-525)aacfsp.N175fs
LIHC11102221307102221307+Missense_MutationSNPGGTTCGA-EP-A2KA-01A-11D-A183-10TCGA-EP-A2KA-10A-01D-A183-10g.chr11:102221307G>Tc.722G>Tc.(721-723)cGg>cTgp.R241L
LIHC11102221361102221362+In_Frame_InsINS--TAGTCGA-G3-A5SK-01A-11D-A27I-10TCGA-G3-A5SK-10A-01D-A27I-10g.chr11:102221361_102221362insTAGc.776_777insTAGc.(775-780)tttagc>ttTAGtagcp.260_261insS
LIHC11102239232102239232+Frame_Shift_DelDELAA-TCGA-DD-A3A0-01A-11D-A20W-10TCGA-DD-A3A0-11A-11D-A20W-10g.chr11:102239232delAc.1319delAc.(1318-1320)gaafsp.E440fs
LUAD11102221329102221329+SilentSNPAAGTCGA-97-7938-01A-11D-2167-08TCGA-97-7938-10A-01D-2167-08g.chr11:102221329A>Gc.744A>Gc.(742-744)ccA>ccGp.P248P
LUAD11102239138102239138+Missense_MutationSNPGGTTCGA-44-6774-01A-21D-1855-08TCGA-44-6774-10A-01D-1855-08g.chr11:102239138G>Tc.1225G>Tc.(1225-1227)Gtg>Ttgp.V409L
LUAD11102239280102239280+Splice_SiteSNPGGTTCGA-95-7043-01A-11D-1945-08TCGA-95-7043-10A-01D-1946-08g.chr11:102239280G>Tc.e6+1
LUSC11102221671102221671+Missense_MutationSNPCCATCGA-85-6561-01A-11D-1817-08TCGA-85-6561-10A-01D-1817-08g.chr11:102221671C>Ac.992C>Ac.(991-993)cCa>cAap.P331Q
OV11102220912102220912+SilentSNPCCTTCGA-04-1338-01A-01W-0484-10TCGA-04-1338-11A-01W-0485-10g.chr11:102220912C>Tc.327C>Tc.(325-327)agC>agTp.S109S
PAAD11102220830102220830+Missense_MutationSNPAAGTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr11:102220830A>Gc.245A>Gc.(244-246)aAa>aGap.K82R
PAAD11102221640102221640+Missense_MutationSNPGGCTCGA-FB-AAPU-01A-31D-A40W-08TCGA-FB-AAPU-11A-12D-A40W-08g.chr11:102221640G>Cc.961G>Cc.(961-963)Gat>Catp.D321H
PRAD11102248361102248361+Missense_MutationSNPCCGTCGA-J4-8198-01A-11D-2260-08TCGA-J4-8198-10A-01D-2260-08g.chr11:102248361C>Gc.1501C>Gc.(1501-1503)Cag>Gagp.Q501E
READ11102233667102233667+Missense_MutationSNPGGTTCGA-AG-3601-01A-01W-0833-10TCGA-AG-3601-10A-01W-0833-10g.chr11:102233667G>Tc.1036G>Tc.(1036-1038)Gat>Tatp.D346Y
READ11102248244102248244+Missense_MutationSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr11:102248244C>Tc.1384C>Tc.(1384-1386)Cgg>Tggp.R462W
SKCM11102220766102220766+Missense_MutationSNPCCTTCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08g.chr11:102220766C>Tc.181C>Tc.(181-183)Cct>Tctp.P61S
SKCM11102221006102221006+Missense_MutationSNPCCTTCGA-EE-A3AA-06A-11D-A196-08TCGA-EE-A3AA-10A-01D-A198-08g.chr11:102221006C>Tc.421C>Tc.(421-423)Ccc>Tccp.P141S
SKCM11102221052102221052+Missense_MutationSNPTTATCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08g.chr11:102221052T>Ac.467T>Ac.(466-468)cTt>cAtp.L156H
SKCM11102221100102221100+Nonsense_MutationSNPCCATCGA-FW-A3I3-06A-11D-A21A-08TCGA-FW-A3I3-10A-01D-A21A-08g.chr11:102221100C>Ac.515C>Ac.(514-516)tCg>tAgp.S172*
SKCM11102221293102221294+Frame_Shift_InsINS--ATCGA-EE-A3JI-06A-11D-A21A-08TCGA-EE-A3JI-10A-01D-A21A-08g.chr11:102221293_102221294insAc.708_709insAc.(709-711)atgfsp.M237fs
SKCM11102248425102248425+Missense_MutationSNPAAGTCGA-EE-A29X-06A-11D-A196-08TCGA-EE-A29X-10A-01D-A198-08g.chr11:102248425A>Gc.1565A>Gc.(1564-1566)aAc>aGcp.N522S
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN11102221076102221076single base substitutionGTdownstream_gene_variant
BLCA-CN11102221076102221076single base substitutionGTexon_variant
BLCA-CN11102221076102221076single base substitutionGTintron_variant
BLCA-CN11102221076102221076single base substitutionGTmissense_variantR115I344G>T
BLCA-CN11102221076102221076single base substitutionGTmissense_variantR143I428G>T
BLCA-CN11102221076102221076single base substitutionGTmissense_variantR164I491G>T
BLCA-CN11102221076102221076single base substitutionGTsplice_acceptor_variant
BRCA-EU11102214192102214192single base substitutionTCupstream_gene_variant
BRCA-EU11102215480102215480single base substitutionCAupstream_gene_variant
BRCA-EU11102217083102217083deletion of <=200bpA-upstream_gene_variant
BRCA-EU11102217400102217400single base substitutionCTupstream_gene_variant
BRCA-EU11102218528102218528deletion of <=200bpA-exon_variant
BRCA-EU11102218528102218528deletion of <=200bpA-intron_variant
BRCA-EU11102218528102218528deletion of <=200bpA-upstream_gene_variant
BRCA-EU11102218983102218983single base substitutionTGintron_variant
BRCA-EU11102218983102218983single base substitutionTGupstream_gene_variant
BRCA-EU11102219925102219925insertion of <=200bp-T5_prime_UTR_variant
BRCA-EU11102219925102219925insertion of <=200bp-Tdownstream_gene_variant
BRCA-EU11102219925102219925insertion of <=200bp-Texon_variant
BRCA-EU11102219925102219925insertion of <=200bp-Tintron_variant
BRCA-EU11102219925102219925insertion of <=200bp-Tupstream_gene_variant
BRCA-EU11102221056102221056single base substitutionTGdownstream_gene_variant
BRCA-EU11102221056102221056single base substitutionTGexon_variant
BRCA-EU11102221056102221056single base substitutionTGintron_variant
BRCA-EU11102221056102221056single base substitutionTGsynonymous_variantS108S324T>G
BRCA-EU11102221056102221056single base substitutionTGsynonymous_variantS136S408T>G
BRCA-EU11102221056102221056single base substitutionTGsynonymous_variantS157S471T>G
BRCA-EU11102223001102223001single base substitutionCAdownstream_gene_variant
BRCA-EU11102223001102223001single base substitutionCAintron_variant
BRCA-EU11102223167102223167single base substitutionAGdownstream_gene_variant
BRCA-EU11102223167102223167single base substitutionAGintron_variant
BRCA-EU11102223908102223908single base substitutionCAdownstream_gene_variant
BRCA-EU11102223908102223908single base substitutionCAintron_variant
BRCA-EU11102225857102225857single base substitutionATdownstream_gene_variant
BRCA-EU11102225857102225857single base substitutionATintron_variant
BRCA-EU11102227000102227000single base substitutionCTintron_variant
BRCA-EU11102233598102233598single base substitutionTAexon_variant
BRCA-EU11102233598102233598single base substitutionTAintron_variant
BRCA-EU11102233843102233843single base substitutionAGintron_variant
BRCA-EU11102233908102233908single base substitutionATintron_variant
BRCA-EU11102233958102233958single base substitutionATintron_variant
BRCA-EU11102236086102236086single base substitutionAGdownstream_gene_variant
BRCA-EU11102236086102236086single base substitutionAGintron_variant
BRCA-EU11102237517102237517single base substitutionCGdownstream_gene_variant
BRCA-EU11102237517102237517single base substitutionCGintron_variant
BRCA-EU11102239739102239739single base substitutionGCintron_variant
BRCA-EU11102243174102243174single base substitutionGCintron_variant
BRCA-EU11102244636102244636single base substitutionCGintron_variant
BRCA-EU11102245116102245116single base substitutionCTintron_variant
BRCA-EU11102245283102245283single base substitutionGAintron_variant
BRCA-EU11102246247102246247single base substitutionCTintron_variant
BRCA-EU11102248863102248863single base substitutionCTdownstream_gene_variant
BRCA-EU11102248863102248863single base substitutionCTexon_variant
BRCA-EU11102248863102248863single base substitutionCTsynonymous_variantC137C411C>T
BRCA-EU11102248863102248863single base substitutionCTsynonymous_variantC553C1659C>T
BRCA-EU11102248863102248863single base substitutionCTsynonymous_variantC581C1743C>T
BRCA-EU11102248863102248863single base substitutionCTsynonymous_variantC602C1806C>T
BRCA-EU11102248929102248929single base substitutionTG3_prime_UTR_variant
BRCA-EU11102248929102248929single base substitutionTGdownstream_gene_variant
BRCA-EU11102248929102248929single base substitutionTGexon_variant
BRCA-EU11102252266102252266single base substitutionAGdownstream_gene_variant
BRCA-EU11102252627102252627single base substitutionGAdownstream_gene_variant
BRCA-EU11102253070102253070single base substitutionAGdownstream_gene_variant
BRCA-FR11102217400102217400single base substitutionCTupstream_gene_variant
BRCA-FR11102225334102225334single base substitutionGAdownstream_gene_variant
BRCA-FR11102225334102225334single base substitutionGAintron_variant
BRCA-FR11102225857102225857single base substitutionATdownstream_gene_variant
BRCA-FR11102225857102225857single base substitutionATintron_variant
BRCA-FR11102245418102245418single base substitutionGAintron_variant
BRCA-UK11102216523102216523single base substitutionGCupstream_gene_variant
BRCA-UK11102220676102220676single base substitutionTAdownstream_gene_variant
BRCA-UK11102220676102220676single base substitutionTAexon_variant
BRCA-UK11102220676102220676single base substitutionTAintron_variant
BRCA-UK11102220676102220676single base substitutionTAmissense_variantW10R28T>A
BRCA-UK11102220676102220676single base substitutionTAmissense_variantW31R91T>A
BRCA-UK11102220676102220676single base substitutionTAupstream_gene_variant
BRCA-UK11102239739102239739single base substitutionGCintron_variant
BRCA-UK11102243174102243174single base substitutionGCintron_variant
BRCA-US11102220963102220963single base substitutionGTdownstream_gene_variant
BRCA-US11102220963102220963single base substitutionGTexon_variant
BRCA-US11102220963102220963single base substitutionGTintron_variant
BRCA-US11102220963102220963single base substitutionGTmissense_variantK105N315G>T
BRCA-US11102220963102220963single base substitutionGTmissense_variantK126N378G>T
BRCA-US11102220963102220963single base substitutionGTmissense_variantK77N231G>T
BRCA-US11102221586102221586single base substitutionGTdownstream_gene_variant
BRCA-US11102221586102221586single base substitutionGTexon_variant
BRCA-US11102221586102221586single base substitutionGTintron_variant
BRCA-US11102221586102221586single base substitutionGTmissense_variantD254Y760G>T
BRCA-US11102221586102221586single base substitutionGTmissense_variantD282Y844G>T
BRCA-US11102221586102221586single base substitutionGTmissense_variantD303Y907G>T
BRCA-US11102239269102239269single base substitutionACdownstream_gene_variant
BRCA-US11102239269102239269single base substitutionACexon_variant
BRCA-US11102239269102239269single base substitutionACintron_variant
BRCA-US11102239269102239269single base substitutionACmissense_variantE114D342A>C
BRCA-US11102239269102239269single base substitutionACmissense_variantE403D1209A>C
BRCA-US11102239269102239269single base substitutionACmissense_variantE431D1293A>C
BRCA-US11102239269102239269single base substitutionACmissense_variantE452D1356A>C
BTCA-JP11102234298102234298single base substitutionGCintron_variant
BTCA-JP11102234462102234462single base substitutionATdownstream_gene_variant
BTCA-JP11102234462102234462single base substitutionATintron_variant
BTCA-JP11102248668102248668deletion of <=200bpT-downstream_gene_variant
BTCA-JP11102248668102248668deletion of <=200bpT-intron_variant
CESC-US11102220627102220627single base substitutionGA5_prime_UTR_variant
CESC-US11102220627102220627single base substitutionGAdownstream_gene_variant
CESC-US11102220627102220627single base substitutionGAexon_variant
CESC-US11102220627102220627single base substitutionGAintron_variant
CESC-US11102220627102220627single base substitutionGAsynonymous_variantS14S42G>A
CESC-US11102220627102220627single base substitutionGAupstream_gene_variant
CESC-US11102220740102220740single base substitutionCTdownstream_gene_variant
CESC-US11102220740102220740single base substitutionCTexon_variant
CESC-US11102220740102220740single base substitutionCTintron_variant
CESC-US11102220740102220740single base substitutionCTmissense_variantT31I92C>T
CESC-US11102220740102220740single base substitutionCTmissense_variantT3I8C>T
CESC-US11102220740102220740single base substitutionCTmissense_variantT52I155C>T
CESC-US11102248819102248819single base substitutionCGdownstream_gene_variant
CESC-US11102248819102248819single base substitutionCGexon_variant
CESC-US11102248819102248819single base substitutionCGmissense_variantH123D367C>G
CESC-US11102248819102248819single base substitutionCGmissense_variantH539D1615C>G
CESC-US11102248819102248819single base substitutionCGmissense_variantH567D1699C>G
CESC-US11102248819102248819single base substitutionCGmissense_variantH588D1762C>G
CLLE-ES11102221625102221625single base substitutionTCdownstream_gene_variant
CLLE-ES11102221625102221625single base substitutionTCexon_variant
CLLE-ES11102221625102221625single base substitutionTCintron_variant
CLLE-ES11102221625102221625single base substitutionTCmissense_variantW267R799T>C
CLLE-ES11102221625102221625single base substitutionTCmissense_variantW295R883T>C
CLLE-ES11102221625102221625single base substitutionTCmissense_variantW316R946T>C
CLLE-ES11102230477102230477single base substitutionCTintron_variant
CLLE-ES11102230477102230477single base substitutionCTupstream_gene_variant
COAD-US11102221039102221039single base substitutionTCdownstream_gene_variant
COAD-US11102221039102221039single base substitutionTCexon_variant
COAD-US11102221039102221039single base substitutionTCintron_variant
COAD-US11102221039102221039single base substitutionTCmissense_variantS103P307T>C
COAD-US11102221039102221039single base substitutionTCmissense_variantS131P391T>C
COAD-US11102221039102221039single base substitutionTCmissense_variantS152P454T>C
COAD-US11102221343102221343single base substitutionCAdownstream_gene_variant
COAD-US11102221343102221343single base substitutionCAexon_variant
COAD-US11102221343102221343single base substitutionCAintron_variant
COAD-US11102221343102221343single base substitutionCAmissense_variantS204Y611C>A
COAD-US11102221343102221343single base substitutionCAmissense_variantS232Y695C>A
COAD-US11102221343102221343single base substitutionCAmissense_variantS253Y758C>A
COAD-US11102221396102221396single base substitutionGAdownstream_gene_variant
COAD-US11102221396102221396single base substitutionGAexon_variant
COAD-US11102221396102221396single base substitutionGAintron_variant
COAD-US11102221396102221396single base substitutionGAmissense_variantA222T664G>A
COAD-US11102221396102221396single base substitutionGAmissense_variantA250T748G>A
COAD-US11102221396102221396single base substitutionGAmissense_variantA271T811G>A
COCA-CN11102219372102219372single base substitutionTC5_prime_UTR_variant
COCA-CN11102219372102219372single base substitutionTCexon_variant
COCA-CN11102219372102219372single base substitutionTCintron_variant
COCA-CN11102219372102219372single base substitutionTCupstream_gene_variant
COCA-CN11102220790102220790single base substitutionCTdownstream_gene_variant
COCA-CN11102220790102220790single base substitutionCTexon_variant
COCA-CN11102220790102220790single base substitutionCTintron_variant
COCA-CN11102220790102220790single base substitutionCTmissense_variantR20C58C>T
COCA-CN11102220790102220790single base substitutionCTmissense_variantR48C142C>T
COCA-CN11102220790102220790single base substitutionCTmissense_variantR69C205C>T
COCA-CN11102220791102220791single base substitutionGAdownstream_gene_variant
COCA-CN11102220791102220791single base substitutionGAexon_variant
COCA-CN11102220791102220791single base substitutionGAintron_variant
COCA-CN11102220791102220791single base substitutionGAmissense_variantR20H59G>A
COCA-CN11102220791102220791single base substitutionGAmissense_variantR48H143G>A
COCA-CN11102220791102220791single base substitutionGAmissense_variantR69H206G>A
COCA-CN11102231431102231431single base substitutionCTintron_variant
COCA-CN11102231431102231431single base substitutionCTupstream_gene_variant
COCA-CN11102248245102248245single base substitutionGA5_prime_UTR_variant
COCA-CN11102248245102248245single base substitutionGAexon_variant
COCA-CN11102248245102248245single base substitutionGAmissense_variantR124Q371G>A
COCA-CN11102248245102248245single base substitutionGAmissense_variantR413Q1238G>A
COCA-CN11102248245102248245single base substitutionGAmissense_variantR441Q1322G>A
COCA-CN11102248245102248245single base substitutionGAmissense_variantR462Q1385G>A
COCA-CN11102248334102248334single base substitutionGAdownstream_gene_variant
COCA-CN11102248334102248334single base substitutionGAexon_variant
COCA-CN11102248334102248334single base substitutionGAmissense_variantE154K460G>A
COCA-CN11102248334102248334single base substitutionGAmissense_variantE27K79G>A
COCA-CN11102248334102248334single base substitutionGAmissense_variantE443K1327G>A
COCA-CN11102248334102248334single base substitutionGAmissense_variantE471K1411G>A
COCA-CN11102248334102248334single base substitutionGAmissense_variantE492K1474G>A
COCA-CN11102248863102248863single base substitutionCTdownstream_gene_variant
COCA-CN11102248863102248863single base substitutionCTexon_variant
COCA-CN11102248863102248863single base substitutionCTsynonymous_variantC137C411C>T
COCA-CN11102248863102248863single base substitutionCTsynonymous_variantC553C1659C>T
COCA-CN11102248863102248863single base substitutionCTsynonymous_variantC581C1743C>T
COCA-CN11102248863102248863single base substitutionCTsynonymous_variantC602C1806C>T
ESAD-UK11102213463102213463single base substitutionAGupstream_gene_variant
ESAD-UK11102215244102215244insertion of <=200bp-Aupstream_gene_variant
ESAD-UK11102215757102215757single base substitutionAGupstream_gene_variant
ESAD-UK11102216321102216321single base substitutionAGupstream_gene_variant
ESAD-UK11102217057102217057single base substitutionTCupstream_gene_variant
ESAD-UK11102218018102218018single base substitutionCA5_prime_UTR_variant
ESAD-UK11102218018102218018single base substitutionCAexon_variant
ESAD-UK11102218018102218018single base substitutionCAupstream_gene_variant
ESAD-UK11102218268102218268single base substitutionCGexon_variant
ESAD-UK11102218268102218268single base substitutionCGintron_variant
ESAD-UK11102218268102218268single base substitutionCGupstream_gene_variant
ESAD-UK11102226248102226248single base substitutionTCdownstream_gene_variant
ESAD-UK11102226248102226248single base substitutionTCintron_variant
ESAD-UK11102228441102228445deletion of <=200bpCTTAT-intron_variant
ESAD-UK11102230669102230669single base substitutionCTintron_variant
ESAD-UK11102230669102230669single base substitutionCTupstream_gene_variant
ESAD-UK11102232586102232586insertion of <=200bp-Cintron_variant
ESAD-UK11102232586102232586insertion of <=200bp-Cupstream_gene_variant
ESAD-UK11102232671102232671single base substitutionGCintron_variant
ESAD-UK11102232671102232671single base substitutionGCupstream_gene_variant
ESAD-UK11102235544102235544single base substitutionGAdownstream_gene_variant
ESAD-UK11102235544102235544single base substitutionGAintron_variant
ESAD-UK11102239382102239382single base substitutionGCdownstream_gene_variant
ESAD-UK11102239382102239382single base substitutionGCintron_variant
ESAD-UK11102246153102246153insertion of <=200bp-Tintron_variant
ESAD-UK11102248290102248290single base substitutionCTexon_variant
ESAD-UK11102248290102248290single base substitutionCTmissense_variantP12L35C>T
ESAD-UK11102248290102248290single base substitutionCTmissense_variantP139L416C>T
ESAD-UK11102248290102248290single base substitutionCTmissense_variantP428L1283C>T
ESAD-UK11102248290102248290single base substitutionCTmissense_variantP456L1367C>T
ESAD-UK11102248290102248290single base substitutionCTmissense_variantP477L1430C>T
ESAD-UK11102249795102249795single base substitutionCTdownstream_gene_variant
ESAD-UK11102250342102250342single base substitutionCTdownstream_gene_variant
ESAD-UK11102253380102253380single base substitutionTGdownstream_gene_variant
ESCA-CN11102220991102220991single base substitutionGCdownstream_gene_variant
ESCA-CN11102220991102220991single base substitutionGCexon_variant
ESCA-CN11102220991102220991single base substitutionGCintron_variant
ESCA-CN11102220991102220991single base substitutionGCmissense_variantA115P343G>C
ESCA-CN11102220991102220991single base substitutionGCmissense_variantA136P406G>C
ESCA-CN11102220991102220991single base substitutionGCmissense_variantA87P259G>C
ESCA-CN11102221118102221118single base substitutionGTdownstream_gene_variant
ESCA-CN11102221118102221118single base substitutionGTexon_variant
ESCA-CN11102221118102221118single base substitutionGTintron_variant
ESCA-CN11102221118102221118single base substitutionGTmissense_variantS129I386G>T
ESCA-CN11102221118102221118single base substitutionGTmissense_variantS157I470G>T
ESCA-CN11102221118102221118single base substitutionGTmissense_variantS178I533G>T
ESCA-CN11102221118102221118single base substitutionGTmissense_variantS20I59G>T
ESCA-CN11102221364102221364single base substitutionGCdownstream_gene_variant
ESCA-CN11102221364102221364single base substitutionGCexon_variant
ESCA-CN11102221364102221364single base substitutionGCintron_variant
ESCA-CN11102221364102221364single base substitutionGCmissense_variantS211T632G>C
ESCA-CN11102221364102221364single base substitutionGCmissense_variantS239T716G>C
ESCA-CN11102221364102221364single base substitutionGCmissense_variantS260T779G>C
ESCA-CN11102221637102221637single base substitutionGAdownstream_gene_variant
ESCA-CN11102221637102221637single base substitutionGAexon_variant
ESCA-CN11102221637102221637single base substitutionGAintron_variant
ESCA-CN11102221637102221637single base substitutionGAmissense_variantD271N811G>A
ESCA-CN11102221637102221637single base substitutionGAmissense_variantD299N895G>A
ESCA-CN11102221637102221637single base substitutionGAmissense_variantD320N958G>A
ESCA-CN11102221652102221652single base substitutionGCdownstream_gene_variant
ESCA-CN11102221652102221652single base substitutionGCexon_variant
ESCA-CN11102221652102221652single base substitutionGCintron_variant
ESCA-CN11102221652102221652single base substitutionGCmissense_variantE276Q826G>C
ESCA-CN11102221652102221652single base substitutionGCmissense_variantE304Q910G>C
ESCA-CN11102221652102221652single base substitutionGCmissense_variantE325Q973G>C
ESCA-CN11102248599102248599single base substitutionAGdownstream_gene_variant
ESCA-CN11102248599102248599single base substitutionAGexon_variant
ESCA-CN11102248599102248599single base substitutionAGmissense_variantM496V1486A>G
ESCA-CN11102248599102248599single base substitutionAGmissense_variantM524V1570A>G
ESCA-CN11102248599102248599single base substitutionAGmissense_variantM545V1633A>G
ESCA-CN11102248599102248599single base substitutionAGmissense_variantM80V238A>G
GBM-US11102220791102220791single base substitutionGTdownstream_gene_variant
GBM-US11102220791102220791single base substitutionGTexon_variant
GBM-US11102220791102220791single base substitutionGTintron_variant
GBM-US11102220791102220791single base substitutionGTmissense_variantR20L59G>T
GBM-US11102220791102220791single base substitutionGTmissense_variantR48L143G>T
GBM-US11102220791102220791single base substitutionGTmissense_variantR69L206G>T
KIRC-US11102221130102221130single base substitutionGAdownstream_gene_variant
KIRC-US11102221130102221130single base substitutionGAexon_variant
KIRC-US11102221130102221130single base substitutionGAintron_variant
KIRC-US11102221130102221130single base substitutionGAmissense_variantS133N398G>A
KIRC-US11102221130102221130single base substitutionGAmissense_variantS161N482G>A
KIRC-US11102221130102221130single base substitutionGAmissense_variantS182N545G>A
KIRC-US11102221130102221130single base substitutionGAmissense_variantS24N71G>A
KIRC-US11102221673102221673single base substitutionAGdownstream_gene_variant
KIRC-US11102221673102221673single base substitutionAGintron_variant
KIRC-US11102221673102221673single base substitutionAGmissense_variantR283G847A>G
KIRC-US11102221673102221673single base substitutionAGmissense_variantR311G931A>G
KIRC-US11102221673102221673single base substitutionAGmissense_variantR332G994A>G
KIRC-US11102221673102221673single base substitutionAGsplice_region_variant
KIRC-US11102239106102239106single base substitutionCAdownstream_gene_variant
KIRC-US11102239106102239106single base substitutionCAexon_variant
KIRC-US11102239106102239106single base substitutionCAintron_variant
KIRC-US11102239106102239106single base substitutionCAmissense_variantS349Y1046C>A
KIRC-US11102239106102239106single base substitutionCAmissense_variantS377Y1130C>A
KIRC-US11102239106102239106single base substitutionCAmissense_variantS398Y1193C>A
KIRC-US11102239106102239106single base substitutionCAmissense_variantS60Y179C>A
KIRC-US11102239263102239263single base substitutionTCdownstream_gene_variant
KIRC-US11102239263102239263single base substitutionTCexon_variant
KIRC-US11102239263102239263single base substitutionTCintron_variant
KIRC-US11102239263102239263single base substitutionTCsynonymous_variantA112A336T>C
KIRC-US11102239263102239263single base substitutionTCsynonymous_variantA401A1203T>C
KIRC-US11102239263102239263single base substitutionTCsynonymous_variantA429A1287T>C
KIRC-US11102239263102239263single base substitutionTCsynonymous_variantA450A1350T>C
KIRC-US11102248743102248743single base substitutionGAdownstream_gene_variant
KIRC-US11102248743102248743single base substitutionGAexon_variant
KIRC-US11102248743102248743single base substitutionGAsynonymous_variantL513L1539G>A
KIRC-US11102248743102248743single base substitutionGAsynonymous_variantL541L1623G>A
KIRC-US11102248743102248743single base substitutionGAsynonymous_variantL562L1686G>A
KIRC-US11102248743102248743single base substitutionGAsynonymous_variantL97L291G>A
LAML-KR11102240655102240655single base substitutionAGintron_variant
LICA-FR11102222854102222854single base substitutionGTdownstream_gene_variant
LICA-FR11102222854102222854single base substitutionGTintron_variant
LICA-FR11102231371102231371single base substitutionGTintron_variant
LICA-FR11102231371102231371single base substitutionGTupstream_gene_variant
LICA-FR11102231516102231516insertion of <=200bp-Tintron_variant
LICA-FR11102231516102231516insertion of <=200bp-Tupstream_gene_variant
LICA-FR11102240805102240805single base substitutionCTintron_variant
LICA-FR11102243891102243891single base substitutionCTintron_variant
LICA-FR11102248780102248780single base substitutionAGdownstream_gene_variant
LICA-FR11102248780102248780single base substitutionAGexon_variant
LICA-FR11102248780102248780single base substitutionAGmissense_variantM110V328A>G
LICA-FR11102248780102248780single base substitutionAGmissense_variantM526V1576A>G
LICA-FR11102248780102248780single base substitutionAGmissense_variantM554V1660A>G
LICA-FR11102248780102248780single base substitutionAGmissense_variantM575V1723A>G
LIHC-US11102221361102221361insertion of <=200bp-TAGdisruptive_inframe_insertionF210LV
LIHC-US11102221361102221361insertion of <=200bp-TAGdisruptive_inframe_insertionF238LV
LIHC-US11102221361102221361insertion of <=200bp-TAGdisruptive_inframe_insertionF259LV
LIHC-US11102221361102221361insertion of <=200bp-TAGdownstream_gene_variant
LIHC-US11102221361102221361insertion of <=200bp-TAGexon_variant
LIHC-US11102221361102221361insertion of <=200bp-TAGintron_variant
LINC-JP11102222990102222990single base substitutionGAdownstream_gene_variant
LINC-JP11102222990102222990single base substitutionGAintron_variant
LINC-JP11102229815102229815single base substitutionAGintron_variant
LINC-JP11102229815102229815single base substitutionAGupstream_gene_variant
LINC-JP11102232090102232090single base substitutionAGintron_variant
LINC-JP11102232090102232090single base substitutionAGupstream_gene_variant
LINC-JP11102232116102232116single base substitutionACintron_variant
LINC-JP11102232116102232116single base substitutionACupstream_gene_variant
LINC-JP11102232643102232643single base substitutionAGintron_variant
LINC-JP11102232643102232643single base substitutionAGupstream_gene_variant
LINC-JP11102234361102234361single base substitutionAGintron_variant
LINC-JP11102237285102237285single base substitutionTCdownstream_gene_variant
LINC-JP11102237285102237285single base substitutionTCintron_variant
LINC-JP11102239877102239877deletion of <=200bpT-intron_variant
LINC-JP11102248865102248865single base substitutionCTdownstream_gene_variant
LINC-JP11102248865102248865single base substitutionCTexon_variant
LINC-JP11102248865102248865single base substitutionCTmissense_variantP138L413C>T
LINC-JP11102248865102248865single base substitutionCTmissense_variantP554L1661C>T
LINC-JP11102248865102248865single base substitutionCTmissense_variantP582L1745C>T
LINC-JP11102248865102248865single base substitutionCTmissense_variantP603L1808C>T
LIRI-JP11102215284102215284single base substitutionACupstream_gene_variant
LIRI-JP11102216033102216033single base substitutionCTupstream_gene_variant
LIRI-JP11102229030102229030single base substitutionGAintron_variant
LIRI-JP11102229030102229030single base substitutionGAupstream_gene_variant
LIRI-JP11102229184102229184single base substitutionAGintron_variant
LIRI-JP11102229184102229184single base substitutionAGupstream_gene_variant
LIRI-JP11102230270102230270single base substitutionAGintron_variant
LIRI-JP11102230270102230270single base substitutionAGupstream_gene_variant
LIRI-JP11102231648102231648single base substitutionAGintron_variant
LIRI-JP11102231648102231648single base substitutionAGupstream_gene_variant
LIRI-JP11102234481102234481single base substitutionACdownstream_gene_variant
LIRI-JP11102234481102234481single base substitutionACintron_variant
LIRI-JP11102235260102235260single base substitutionGAdownstream_gene_variant
LIRI-JP11102235260102235260single base substitutionGAintron_variant
LIRI-JP11102235601102235601single base substitutionGAdownstream_gene_variant
LIRI-JP11102235601102235601single base substitutionGAintron_variant
LIRI-JP11102239676102239676single base substitutionAGintron_variant
LIRI-JP11102239934102239934single base substitutionGCintron_variant
LIRI-JP11102245881102245881single base substitutionGAintron_variant
LIRI-JP11102246124102246124deletion of <=200bpA-intron_variant
LIRI-JP11102246219102246219single base substitutionTGintron_variant
LIRI-JP11102246782102246794deletion of <=200bpATTGTTAAGTAGT-intron_variant
LIRI-JP11102247048102247048single base substitutionTAintron_variant
LIRI-JP11102250292102250292single base substitutionAGdownstream_gene_variant
LIRI-JP11102251003102251003single base substitutionAGdownstream_gene_variant
LIRI-JP11102253572102253572single base substitutionAGdownstream_gene_variant
LIRI-JP11102253919102253924deletion of <=200bpACACAC-downstream_gene_variant
LUSC-KR11102215911102215911single base substitutionGCupstream_gene_variant
LUSC-KR11102224435102224435single base substitutionGTdownstream_gene_variant
LUSC-KR11102224435102224435single base substitutionGTintron_variant
LUSC-KR11102227683102227683single base substitutionGCintron_variant
LUSC-KR11102228510102228510single base substitutionGCintron_variant
LUSC-KR11102228510102228510single base substitutionGCupstream_gene_variant
LUSC-KR11102228943102228943single base substitutionGCintron_variant
LUSC-KR11102228943102228943single base substitutionGCupstream_gene_variant
LUSC-KR11102236079102236079single base substitutionAGdownstream_gene_variant
LUSC-KR11102236079102236079single base substitutionAGintron_variant
LUSC-KR11102241028102241028single base substitutionATintron_variant
LUSC-KR11102242854102242854single base substitutionCTintron_variant
LUSC-KR11102243006102243006single base substitutionACintron_variant
LUSC-KR11102243035102243035single base substitutionTAintron_variant
LUSC-KR11102245211102245211single base substitutionGAintron_variant
LUSC-KR11102245228102245228single base substitutionGCintron_variant
LUSC-KR11102245563102245563single base substitutionAGintron_variant
LUSC-US11102221671102221671single base substitutionCAdownstream_gene_variant
LUSC-US11102221671102221671single base substitutionCAexon_variant
LUSC-US11102221671102221671single base substitutionCAintron_variant
LUSC-US11102221671102221671single base substitutionCAmissense_variantP282Q845C>A
LUSC-US11102221671102221671single base substitutionCAmissense_variantP310Q929C>A
LUSC-US11102221671102221671single base substitutionCAmissense_variantP331Q992C>A
MALY-DE11102213562102213562single base substitutionTAupstream_gene_variant
MALY-DE11102214081102214081single base substitutionCTupstream_gene_variant
MALY-DE11102214479102214479single base substitutionTAupstream_gene_variant
MALY-DE11102214512102214512single base substitutionTGupstream_gene_variant
MALY-DE11102217251102217251single base substitutionATupstream_gene_variant
MALY-DE11102218313102218313single base substitutionGAexon_variant
MALY-DE11102218313102218313single base substitutionGAintron_variant
MALY-DE11102218313102218313single base substitutionGAupstream_gene_variant
MALY-DE11102222241102222241single base substitutionGAdownstream_gene_variant
MALY-DE11102222241102222241single base substitutionGAintron_variant
MALY-DE11102228517102228517single base substitutionTGintron_variant
MALY-DE11102228517102228517single base substitutionTGupstream_gene_variant
MALY-DE11102228580102228580single base substitutionGAintron_variant
MALY-DE11102228580102228580single base substitutionGAupstream_gene_variant
MALY-DE11102231188102231188single base substitutionTGintron_variant
MALY-DE11102231188102231188single base substitutionTGupstream_gene_variant
MALY-DE11102236475102236476deletion of <=200bpGT-downstream_gene_variant
MALY-DE11102236475102236476deletion of <=200bpGT-intron_variant
MALY-DE11102246587102246587single base substitutionACintron_variant
MALY-DE11102251155102251155single base substitutionGAdownstream_gene_variant
MELA-AU11102214628102214628single base substitutionGAupstream_gene_variant
MELA-AU11102217477102217478multiple base substitution (>=2bp and <=200bp)CCTTupstream_gene_variant
MELA-AU11102219947102219947single base substitutionAG5_prime_UTR_variant
MELA-AU11102219947102219947single base substitutionAGdownstream_gene_variant
MELA-AU11102219947102219947single base substitutionAGexon_variant
MELA-AU11102219947102219947single base substitutionAGintron_variant
MELA-AU11102219947102219947single base substitutionAGupstream_gene_variant
MELA-AU11102220963102220963single base substitutionGAdownstream_gene_variant
MELA-AU11102220963102220963single base substitutionGAexon_variant
MELA-AU11102220963102220963single base substitutionGAintron_variant
MELA-AU11102220963102220963single base substitutionGAsynonymous_variantK105K315G>A
MELA-AU11102220963102220963single base substitutionGAsynonymous_variantK126K378G>A
MELA-AU11102220963102220963single base substitutionGAsynonymous_variantK77K231G>A
MELA-AU11102221006102221006single base substitutionCTdownstream_gene_variant
MELA-AU11102221006102221006single base substitutionCTexon_variant
MELA-AU11102221006102221006single base substitutionCTintron_variant
MELA-AU11102221006102221006single base substitutionCTmissense_variantP120S358C>T
MELA-AU11102221006102221006single base substitutionCTmissense_variantP141S421C>T
MELA-AU11102221006102221006single base substitutionCTmissense_variantP92S274C>T
MELA-AU11102222149102222149single base substitutionCTdownstream_gene_variant
MELA-AU11102222149102222149single base substitutionCTintron_variant
MELA-AU11102222787102222787single base substitutionCTdownstream_gene_variant
MELA-AU11102222787102222787single base substitutionCTintron_variant
MELA-AU11102222838102222838insertion of <=200bp-TGdownstream_gene_variant
MELA-AU11102222838102222838insertion of <=200bp-TGintron_variant
MELA-AU11102222968102222968single base substitutionCTdownstream_gene_variant
MELA-AU11102222968102222968single base substitutionCTintron_variant
MELA-AU11102223232102223233multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU11102223232102223233multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU11102224318102224318single base substitutionGCdownstream_gene_variant
MELA-AU11102224318102224318single base substitutionGCintron_variant
MELA-AU11102224398102224398single base substitutionTCdownstream_gene_variant
MELA-AU11102224398102224398single base substitutionTCintron_variant
MELA-AU11102225436102225436single base substitutionCTdownstream_gene_variant
MELA-AU11102225436102225436single base substitutionCTintron_variant
MELA-AU11102227000102227000single base substitutionCTintron_variant
MELA-AU11102227241102227241single base substitutionCTintron_variant
MELA-AU11102227304102227304single base substitutionCTintron_variant
MELA-AU11102227335102227335single base substitutionCTintron_variant
MELA-AU11102227660102227660single base substitutionCTintron_variant
MELA-AU11102227700102227700single base substitutionTCintron_variant
MELA-AU11102227946102227946single base substitutionTCintron_variant
MELA-AU11102227989102227989single base substitutionCTintron_variant
MELA-AU11102228003102228003single base substitutionCTintron_variant
MELA-AU11102229563102229563single base substitutionCTintron_variant
MELA-AU11102229563102229563single base substitutionCTupstream_gene_variant
MELA-AU11102230190102230190single base substitutionCTintron_variant
MELA-AU11102230190102230190single base substitutionCTupstream_gene_variant
MELA-AU11102231256102231256single base substitutionTAintron_variant
MELA-AU11102231256102231256single base substitutionTAupstream_gene_variant
MELA-AU11102231359102231359single base substitutionCTintron_variant
MELA-AU11102231359102231359single base substitutionCTupstream_gene_variant
MELA-AU11102231362102231362single base substitutionTCintron_variant
MELA-AU11102231362102231362single base substitutionTCupstream_gene_variant
MELA-AU11102231364102231364single base substitutionCTintron_variant
MELA-AU11102231364102231364single base substitutionCTupstream_gene_variant
MELA-AU11102232122102232122single base substitutionAGintron_variant
MELA-AU11102232122102232122single base substitutionAGupstream_gene_variant
MELA-AU11102233140102233140deletion of <=200bpA-intron_variant
MELA-AU11102233140102233140deletion of <=200bpA-upstream_gene_variant
MELA-AU11102235898102235898single base substitutionCTdownstream_gene_variant
MELA-AU11102235898102235898single base substitutionCTintron_variant
MELA-AU11102235999102235999single base substitutionTAdownstream_gene_variant
MELA-AU11102235999102235999single base substitutionTAintron_variant
MELA-AU11102237188102237188single base substitutionGAdownstream_gene_variant
MELA-AU11102237188102237188single base substitutionGAintron_variant
MELA-AU11102237692102237692single base substitutionCTdownstream_gene_variant
MELA-AU11102237692102237692single base substitutionCTintron_variant
MELA-AU11102238628102238628single base substitutionCTdownstream_gene_variant
MELA-AU11102238628102238628single base substitutionCTintron_variant
MELA-AU11102239540102239540single base substitutionCTintron_variant
MELA-AU11102242817102242817single base substitutionCTintron_variant
MELA-AU11102245394102245394single base substitutionAGintron_variant
MELA-AU11102245661102245661single base substitutionCAintron_variant
MELA-AU11102245671102245671single base substitutionCTintron_variant
MELA-AU11102245680102245680single base substitutionCTintron_variant
MELA-AU11102245921102245921single base substitutionCTintron_variant
MELA-AU11102246480102246480single base substitutionCTintron_variant
MELA-AU11102246628102246628single base substitutionTCintron_variant
MELA-AU11102246918102246918single base substitutionCTintron_variant
MELA-AU11102247055102247055single base substitutionGAintron_variant
MELA-AU11102247290102247290single base substitutionATintron_variant
MELA-AU11102247786102247786single base substitutionCTintron_variant
MELA-AU11102248425102248425single base substitutionAGdownstream_gene_variant
MELA-AU11102248425102248425single base substitutionAGexon_variant
MELA-AU11102248425102248425single base substitutionAGmissense_variantN473S1418A>G
MELA-AU11102248425102248425single base substitutionAGmissense_variantN501S1502A>G
MELA-AU11102248425102248425single base substitutionAGmissense_variantN522S1565A>G
MELA-AU11102248425102248425single base substitutionAGmissense_variantN57S170A>G
MELA-AU11102250156102250157multiple base substitution (>=2bp and <=200bp)CCTAdownstream_gene_variant
MELA-AU11102251015102251015single base substitutionATdownstream_gene_variant
MELA-AU11102252113102252113single base substitutionATdownstream_gene_variant
MELA-AU11102252601102252601single base substitutionCTdownstream_gene_variant
MELA-AU11102252746102252746single base substitutionCTdownstream_gene_variant
MELA-AU11102252861102252861single base substitutionCTdownstream_gene_variant
MELA-AU11102253364102253364single base substitutionCTdownstream_gene_variant
ORCA-IN11102216586102216586single base substitutionGAupstream_gene_variant
ORCA-IN11102237186102237186single base substitutionCTdownstream_gene_variant
ORCA-IN11102237186102237186single base substitutionCTintron_variant
ORCA-IN11102246403102246403single base substitutionCTintron_variant
OV-AU11102215760102215760single base substitutionGCupstream_gene_variant
OV-AU11102217935102217935single base substitutionCGupstream_gene_variant
OV-AU11102217970102217970single base substitutionGT5_prime_UTR_premature_start_codon_gain_variant
OV-AU11102217970102217970single base substitutionGTexon_variant
OV-AU11102217970102217970single base substitutionGTupstream_gene_variant
OV-AU11102219887102219887single base substitutionGT5_prime_UTR_variant
OV-AU11102219887102219887single base substitutionGTdownstream_gene_variant
OV-AU11102219887102219887single base substitutionGTexon_variant
OV-AU11102219887102219887single base substitutionGTintron_variant
OV-AU11102219887102219887single base substitutionGTupstream_gene_variant
OV-AU11102228248102228248single base substitutionCAintron_variant
OV-AU11102252782102252782single base substitutionCTdownstream_gene_variant
PACA-AU11102220572102220572single base substitutionAG5_prime_UTR_variant
PACA-AU11102220572102220572single base substitutionAGdownstream_gene_variant
PACA-AU11102220572102220572single base substitutionAGexon_variant
PACA-AU11102220572102220572single base substitutionAGintron_variant
PACA-AU11102220572102220572single base substitutionAGupstream_gene_variant
PACA-AU11102224657102224657single base substitutionGAdownstream_gene_variant
PACA-AU11102224657102224657single base substitutionGAintron_variant
PACA-AU11102227702102227702single base substitutionGCintron_variant
PACA-AU11102229080102229080single base substitutionGCintron_variant
PACA-AU11102229080102229080single base substitutionGCupstream_gene_variant
PACA-AU11102229119102229119single base substitutionGTintron_variant
PACA-AU11102229119102229119single base substitutionGTupstream_gene_variant
PACA-AU11102231229102231229single base substitutionCGintron_variant
PACA-AU11102231229102231229single base substitutionCGupstream_gene_variant
PACA-AU11102231411102231411single base substitutionACintron_variant
PACA-AU11102231411102231411single base substitutionACupstream_gene_variant
PACA-AU11102244024102244024single base substitutionCAintron_variant
PACA-AU11102244995102244995single base substitutionCTintron_variant
PACA-AU11102248678102248678single base substitutionAGdownstream_gene_variant
PACA-AU11102248678102248678single base substitutionAGintron_variant
PACA-AU11102248805102248805single base substitutionTAdownstream_gene_variant
PACA-AU11102248805102248805single base substitutionTAexon_variant
PACA-AU11102248805102248805single base substitutionTAmissense_variantF118Y353T>A
PACA-AU11102248805102248805single base substitutionTAmissense_variantF534Y1601T>A
PACA-AU11102248805102248805single base substitutionTAmissense_variantF562Y1685T>A
PACA-AU11102248805102248805single base substitutionTAmissense_variantF583Y1748T>A
PACA-AU11102252668102252668single base substitutionGAdownstream_gene_variant
PACA-CA11102222868102222868single base substitutionGAdownstream_gene_variant
PACA-CA11102222868102222868single base substitutionGAintron_variant
PACA-CA11102229603102229603single base substitutionTGintron_variant
PACA-CA11102229603102229603single base substitutionTGupstream_gene_variant
PACA-CA11102232030102232030single base substitutionCTintron_variant
PACA-CA11102232030102232030single base substitutionCTupstream_gene_variant
PACA-CA11102234486102234515deletion of <=200bpTTATAAGAATTTTAGGAATAGGCTGGGTGC-downstream_gene_variant
PACA-CA11102234486102234515deletion of <=200bpTTATAAGAATTTTAGGAATAGGCTGGGTGC-intron_variant
PACA-CA11102234903102234903single base substitutionTCdownstream_gene_variant
PACA-CA11102234903102234903single base substitutionTCintron_variant
PACA-CA11102234907102234907single base substitutionCTdownstream_gene_variant
PACA-CA11102234907102234907single base substitutionCTintron_variant
PACA-CA11102245425102245425single base substitutionATintron_variant
PACA-CA11102246706102246706single base substitutionTAintron_variant
PACA-CA11102247361102247361single base substitutionGAintron_variant
PACA-CA11102250369102250369single base substitutionTGdownstream_gene_variant
PACA-CA11102253380102253380single base substitutionTGdownstream_gene_variant
PBCA-DE11102215658102215658single base substitutionTCupstream_gene_variant
PBCA-DE11102216174102216174insertion of <=200bp-Tupstream_gene_variant
PBCA-DE11102227365102227367deletion of <=200bpTTT-intron_variant
PBCA-DE11102231182102231184deletion of <=200bpTTG-intron_variant
PBCA-DE11102231182102231184deletion of <=200bpTTG-upstream_gene_variant
PRAD-CA11102215949102215949single base substitutionACupstream_gene_variant
PRAD-CA11102217950102217950single base substitutionGA5_prime_UTR_variant
PRAD-CA11102217950102217950single base substitutionGAexon_variant
PRAD-CA11102217950102217950single base substitutionGAupstream_gene_variant
PRAD-CA11102234905102234905single base substitutionTCdownstream_gene_variant
PRAD-CA11102234905102234905single base substitutionTCintron_variant
PRAD-CA11102234919102234919single base substitutionGCdownstream_gene_variant
PRAD-CA11102234919102234919single base substitutionGCintron_variant
PRAD-CA11102235667102235667single base substitutionTCdownstream_gene_variant
PRAD-CA11102235667102235667single base substitutionTCintron_variant
PRAD-CA11102239404102239404single base substitutionCTdownstream_gene_variant
PRAD-CA11102239404102239404single base substitutionCTintron_variant
PRAD-CA11102253385102253385single base substitutionGTdownstream_gene_variant
PRAD-UK11102228590102228590single base substitutionATintron_variant
PRAD-UK11102228590102228590single base substitutionATupstream_gene_variant
PRAD-UK11102235875102235875single base substitutionCTdownstream_gene_variant
PRAD-UK11102235875102235875single base substitutionCTintron_variant
PRAD-UK11102253455102253455single base substitutionTCdownstream_gene_variant
PRAD-US11102248361102248361single base substitutionCGdownstream_gene_variant
PRAD-US11102248361102248361single base substitutionCGexon_variant
PRAD-US11102248361102248361single base substitutionCGmissense_variantQ163E487C>G
PRAD-US11102248361102248361single base substitutionCGmissense_variantQ36E106C>G
PRAD-US11102248361102248361single base substitutionCGmissense_variantQ452E1354C>G
PRAD-US11102248361102248361single base substitutionCGmissense_variantQ480E1438C>G
PRAD-US11102248361102248361single base substitutionCGmissense_variantQ501E1501C>G
READ-US11102239236102239236single base substitutionACdownstream_gene_variant
READ-US11102239236102239236single base substitutionACexon_variant
READ-US11102239236102239236single base substitutionACintron_variant
READ-US11102239236102239236single base substitutionACmissense_variantK103N309A>C
READ-US11102239236102239236single base substitutionACmissense_variantK392N1176A>C
READ-US11102239236102239236single base substitutionACmissense_variantK420N1260A>C
READ-US11102239236102239236single base substitutionACmissense_variantK441N1323A>C
READ-US11102248588102248588single base substitutionTCdownstream_gene_variant
READ-US11102248588102248588single base substitutionTCmissense_variantV492A1475T>C
READ-US11102248588102248588single base substitutionTCmissense_variantV520A1559T>C
READ-US11102248588102248588single base substitutionTCmissense_variantV541A1622T>C
READ-US11102248588102248588single base substitutionTCmissense_variantV76A227T>C
READ-US11102248588102248588single base substitutionTCsplice_region_variant
RECA-EU11102221574102221574single base substitutionGTdownstream_gene_variant
RECA-EU11102221574102221574single base substitutionGTintron_variant
RECA-EU11102221574102221574single base substitutionGTsplice_acceptor_variant
RECA-EU11102227848102227848single base substitutionTAintron_variant
RECA-EU11102233326102233326single base substitutionAGintron_variant
RECA-EU11102233326102233326single base substitutionAGupstream_gene_variant
RECA-EU11102235574102235574single base substitutionGAdownstream_gene_variant
RECA-EU11102235574102235574single base substitutionGAintron_variant
RECA-EU11102247711102247711single base substitutionAGintron_variant
RECA-EU11102252256102252256single base substitutionCTdownstream_gene_variant
SKCA-BR11102213037102213037insertion of <=200bp-CTAupstream_gene_variant
SKCA-BR11102213041102213041single base substitutionGAupstream_gene_variant
SKCA-BR11102213075102213075single base substitutionGAupstream_gene_variant
SKCA-BR11102214483102214483single base substitutionTAupstream_gene_variant
SKCA-BR11102217015102217015single base substitutionAGupstream_gene_variant
SKCA-BR11102224457102224457single base substitutionTCdownstream_gene_variant
SKCA-BR11102224457102224457single base substitutionTCintron_variant
SKCA-BR11102226926102226926insertion of <=200bp-CTintron_variant
SKCA-BR11102230055102230055single base substitutionTGintron_variant
SKCA-BR11102230055102230055single base substitutionTGupstream_gene_variant
SKCA-BR11102234893102234913deletion of <=200bpTATATATATATATACACACAC-downstream_gene_variant
SKCA-BR11102234893102234913deletion of <=200bpTATATATATATATACACACAC-intron_variant
SKCA-BR11102234905102234905insertion of <=200bp-TATATATATACdownstream_gene_variant
SKCA-BR11102234905102234905insertion of <=200bp-TATATATATACintron_variant
SKCA-BR11102234905102234905insertion of <=200bp-TATATATATATATATATATATATACACdownstream_gene_variant
SKCA-BR11102234905102234905insertion of <=200bp-TATATATATATATATATATATATACACintron_variant
SKCA-BR11102234905102234905single base substitutionTCdownstream_gene_variant
SKCA-BR11102234905102234905single base substitutionTCintron_variant
SKCA-BR11102234905102234913deletion of <=200bpTACACACAC-downstream_gene_variant
SKCA-BR11102234905102234913deletion of <=200bpTACACACAC-intron_variant
SKCA-BR11102234917102234921deletion of <=200bpCAGAG-downstream_gene_variant
SKCA-BR11102234917102234921deletion of <=200bpCAGAG-intron_variant
SKCA-BR11102234919102234919single base substitutionGCdownstream_gene_variant
SKCA-BR11102234919102234919single base substitutionGCintron_variant
SKCA-BR11102236078102236078single base substitutionCTdownstream_gene_variant
SKCA-BR11102236078102236078single base substitutionCTintron_variant
SKCA-BR11102239807102239807single base substitutionCTintron_variant
SKCA-BR11102241461102241461single base substitutionAGintron_variant
SKCA-BR11102243315102243315single base substitutionCTintron_variant
SKCA-BR11102244995102244995single base substitutionCTintron_variant
SKCA-BR11102245488102245488single base substitutionTCintron_variant
SKCA-BR11102246510102246510insertion of <=200bp-CAintron_variant
SKCM-US11102220766102220766single base substitutionCTdownstream_gene_variant
SKCM-US11102220766102220766single base substitutionCTexon_variant
SKCM-US11102220766102220766single base substitutionCTintron_variant
SKCM-US11102220766102220766single base substitutionCTmissense_variantP12S34C>T
SKCM-US11102220766102220766single base substitutionCTmissense_variantP40S118C>T
SKCM-US11102220766102220766single base substitutionCTmissense_variantP61S181C>T
SKCM-US11102221006102221006single base substitutionCTdownstream_gene_variant
SKCM-US11102221006102221006single base substitutionCTexon_variant
SKCM-US11102221006102221006single base substitutionCTintron_variant
SKCM-US11102221006102221006single base substitutionCTmissense_variantP120S358C>T
SKCM-US11102221006102221006single base substitutionCTmissense_variantP141S421C>T
SKCM-US11102221006102221006single base substitutionCTmissense_variantP92S274C>T
SKCM-US11102221052102221052single base substitutionTAdownstream_gene_variant
SKCM-US11102221052102221052single base substitutionTAexon_variant
SKCM-US11102221052102221052single base substitutionTAintron_variant
SKCM-US11102221052102221052single base substitutionTAmissense_variantL107H320T>A
SKCM-US11102221052102221052single base substitutionTAmissense_variantL135H404T>A
SKCM-US11102221052102221052single base substitutionTAmissense_variantL156H467T>A
SKCM-US11102221100102221100single base substitutionCAdownstream_gene_variant
SKCM-US11102221100102221100single base substitutionCAexon_variant
SKCM-US11102221100102221100single base substitutionCAintron_variant
SKCM-US11102221100102221100single base substitutionCAstop_gainedS123*368C>A
SKCM-US11102221100102221100single base substitutionCAstop_gainedS14*41C>A
SKCM-US11102221100102221100single base substitutionCAstop_gainedS151*452C>A
SKCM-US11102221100102221100single base substitutionCAstop_gainedS172*515C>A
SKCM-US11102221293102221293insertion of <=200bp-Adownstream_gene_variant
SKCM-US11102221293102221293insertion of <=200bp-Aexon_variant
SKCM-US11102221293102221293insertion of <=200bp-Aframeshift_variantA187A?
SKCM-US11102221293102221293insertion of <=200bp-Aframeshift_variantA215A?
SKCM-US11102221293102221293insertion of <=200bp-Aframeshift_variantA236A?
SKCM-US11102221293102221293insertion of <=200bp-Aframeshift_variantA78A?
SKCM-US11102221293102221293insertion of <=200bp-Aintron_variant
SKCM-US11102239042102239042single base substitutionCTdownstream_gene_variant
SKCM-US11102239042102239042single base substitutionCTexon_variant
SKCM-US11102239042102239042single base substitutionCTintron_variant
SKCM-US11102239042102239042single base substitutionCTmissense_variantH328Y982C>T
SKCM-US11102239042102239042single base substitutionCTmissense_variantH356Y1066C>T
SKCM-US11102239042102239042single base substitutionCTmissense_variantH377Y1129C>T
SKCM-US11102239042102239042single base substitutionCTmissense_variantH39Y115C>T
SKCM-US11102248425102248425single base substitutionAGdownstream_gene_variant
SKCM-US11102248425102248425single base substitutionAGexon_variant
SKCM-US11102248425102248425single base substitutionAGmissense_variantN473S1418A>G
SKCM-US11102248425102248425single base substitutionAGmissense_variantN501S1502A>G
SKCM-US11102248425102248425single base substitutionAGmissense_variantN522S1565A>G
SKCM-US11102248425102248425single base substitutionAGmissense_variantN57S170A>G
SKCM-US11102248885102248885single base substitutionAGdownstream_gene_variant
SKCM-US11102248885102248885single base substitutionAGexon_variant
SKCM-US11102248885102248885single base substitutionAGmissense_variantK561E1681A>G
SKCM-US11102248885102248885single base substitutionAGmissense_variantK589E1765A>G
SKCM-US11102248885102248885single base substitutionAGmissense_variantK610E1828A>G
STAD-US11102220626102220626single base substitutionCT5_prime_UTR_premature_start_codon_gain_variant
STAD-US11102220626102220626single base substitutionCTdownstream_gene_variant
STAD-US11102220626102220626single base substitutionCTexon_variant
STAD-US11102220626102220626single base substitutionCTintron_variant
STAD-US11102220626102220626single base substitutionCTmissense_variantS14L41C>T
STAD-US11102220626102220626single base substitutionCTupstream_gene_variant
STAD-US11102220931102220931single base substitutionCGdownstream_gene_variant
STAD-US11102220931102220931single base substitutionCGexon_variant
STAD-US11102220931102220931single base substitutionCGintron_variant
STAD-US11102220931102220931single base substitutionCGmissense_variantL116V346C>G
STAD-US11102220931102220931single base substitutionCGmissense_variantL67V199C>G
STAD-US11102220931102220931single base substitutionCGmissense_variantL95V283C>G
STAD-US11102221160102221160single base substitutionAGdownstream_gene_variant
STAD-US11102221160102221160single base substitutionAGexon_variant
STAD-US11102221160102221160single base substitutionAGintron_variant
STAD-US11102221160102221160single base substitutionAGmissense_variantH143R428A>G
STAD-US11102221160102221160single base substitutionAGmissense_variantH171R512A>G
STAD-US11102221160102221160single base substitutionAGmissense_variantH192R575A>G
STAD-US11102221160102221160single base substitutionAGmissense_variantH34R101A>G
STAD-US11102248749102248749single base substitutionGAdownstream_gene_variant
STAD-US11102248749102248749single base substitutionGAexon_variant
STAD-US11102248749102248749single base substitutionGAsynonymous_variantR515R1545G>A
STAD-US11102248749102248749single base substitutionGAsynonymous_variantR543R1629G>A
STAD-US11102248749102248749single base substitutionGAsynonymous_variantR564R1692G>A
STAD-US11102248749102248749single base substitutionGAsynonymous_variantR99R297G>A
THCA-SA11102218007102218007single base substitutionGC5_prime_UTR_variant
THCA-SA11102218007102218007single base substitutionGCexon_variant
THCA-SA11102218007102218007single base substitutionGCupstream_gene_variant
UCEC-US11102220612102220612single base substitutionTG5_prime_UTR_premature_start_codon_gain_variant
UCEC-US11102220612102220612single base substitutionTGdownstream_gene_variant
UCEC-US11102220612102220612single base substitutionTGexon_variant
UCEC-US11102220612102220612single base substitutionTGintron_variant
UCEC-US11102220612102220612single base substitutionTGsynonymous_variantL9L27T>G
UCEC-US11102220612102220612single base substitutionTGupstream_gene_variant
UCEC-US11102221118102221118single base substitutionGTdownstream_gene_variant
UCEC-US11102221118102221118single base substitutionGTexon_variant
UCEC-US11102221118102221118single base substitutionGTintron_variant
UCEC-US11102221118102221118single base substitutionGTmissense_variantS129I386G>T
UCEC-US11102221118102221118single base substitutionGTmissense_variantS157I470G>T
UCEC-US11102221118102221118single base substitutionGTmissense_variantS178I533G>T
UCEC-US11102221118102221118single base substitutionGTmissense_variantS20I59G>T
UCEC-US11102221127102221127single base substitutionTCdownstream_gene_variant
UCEC-US11102221127102221127single base substitutionTCexon_variant
UCEC-US11102221127102221127single base substitutionTCintron_variant
UCEC-US11102221127102221127single base substitutionTCmissense_variantM132T395T>C
UCEC-US11102221127102221127single base substitutionTCmissense_variantM160T479T>C
UCEC-US11102221127102221127single base substitutionTCmissense_variantM181T542T>C
UCEC-US11102221127102221127single base substitutionTCmissense_variantM23T68T>C
UCEC-US11102221167102221167single base substitutionGAdownstream_gene_variant
UCEC-US11102221167102221167single base substitutionGAexon_variant
UCEC-US11102221167102221167single base substitutionGAintron_variant
UCEC-US11102221167102221167single base substitutionGAstop_gainedW145*435G>A
UCEC-US11102221167102221167single base substitutionGAstop_gainedW173*519G>A
UCEC-US11102221167102221167single base substitutionGAstop_gainedW194*582G>A
UCEC-US11102221167102221167single base substitutionGAstop_gainedW36*108G>A
UCEC-US11102221343102221343single base substitutionCAdownstream_gene_variant
UCEC-US11102221343102221343single base substitutionCAexon_variant
UCEC-US11102221343102221343single base substitutionCAintron_variant
UCEC-US11102221343102221343single base substitutionCAmissense_variantS204Y611C>A
UCEC-US11102221343102221343single base substitutionCAmissense_variantS232Y695C>A
UCEC-US11102221343102221343single base substitutionCAmissense_variantS253Y758C>A
UCEC-US11102221477102221477single base substitutionGAdownstream_gene_variant
UCEC-US11102221477102221477single base substitutionGAexon_variant
UCEC-US11102221477102221477single base substitutionGAintron_variant
UCEC-US11102221477102221477single base substitutionGAmissense_variantV249M745G>A
UCEC-US11102221477102221477single base substitutionGAmissense_variantV277M829G>A
UCEC-US11102221477102221477single base substitutionGAmissense_variantV298M892G>A
UCEC-US11102233636102233636single base substitutionCA5_prime_UTR_variant
UCEC-US11102233636102233636single base substitutionCAexon_variant
UCEC-US11102233636102233636single base substitutionCAintron_variant
UCEC-US11102233636102233636single base substitutionCAmissense_variantF286L858C>A
UCEC-US11102233636102233636single base substitutionCAmissense_variantF314L942C>A
UCEC-US11102233636102233636single base substitutionCAmissense_variantF335L1005C>A
UCEC-US11102239216102239216single base substitutionCGdownstream_gene_variant
UCEC-US11102239216102239216single base substitutionCGexon_variant
UCEC-US11102239216102239216single base substitutionCGintron_variant
UCEC-US11102239216102239216single base substitutionCGmissense_variantL386V1156C>G
UCEC-US11102239216102239216single base substitutionCGmissense_variantL414V1240C>G
UCEC-US11102239216102239216single base substitutionCGmissense_variantL435V1303C>G
UCEC-US11102239216102239216single base substitutionCGmissense_variantL97V289C>G
UCEC-US11102248382102248382single base substitutionGTdownstream_gene_variant
UCEC-US11102248382102248382single base substitutionGTexon_variant
UCEC-US11102248382102248382single base substitutionGTstop_gainedE170*508G>T
UCEC-US11102248382102248382single base substitutionGTstop_gainedE43*127G>T
UCEC-US11102248382102248382single base substitutionGTstop_gainedE459*1375G>T
UCEC-US11102248382102248382single base substitutionGTstop_gainedE487*1459G>T
UCEC-US11102248382102248382single base substitutionGTstop_gainedE508*1522G>T
UCEC-US11102248796102248796single base substitutionCAdownstream_gene_variant
UCEC-US11102248796102248796single base substitutionCAexon_variant
UCEC-US11102248796102248796single base substitutionCAmissense_variantS115Y344C>A
UCEC-US11102248796102248796single base substitutionCAmissense_variantS531Y1592C>A
UCEC-US11102248796102248796single base substitutionCAmissense_variantS559Y1676C>A
UCEC-US11102248796102248796single base substitutionCAmissense_variantS580Y1739C>A
UCEC-US11102248842102248842single base substitutionTCdownstream_gene_variant
UCEC-US11102248842102248842single base substitutionTCexon_variant
UCEC-US11102248842102248842single base substitutionTCsynonymous_variantC130C390T>C
UCEC-US11102248842102248842single base substitutionTCsynonymous_variantC546C1638T>C
UCEC-US11102248842102248842single base substitutionTCsynonymous_variantC574C1722T>C
UCEC-US11102248842102248842single base substitutionTCsynonymous_variantC595C1785T>C
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
CRC-06TCOSM5456064c.1806C>Tp.C602CSubstitution - coding silent11:102378132-102378132+
TCGA-D7-A4YV-01COSM4017247c.1692G>Ap.R564RSubstitution - coding silent11:102378018-102378018+
018COSM145136c.946T>Cp.W316RSubstitution - Missense11:102350894-102350894+
018-0046-01TDCOSM145136c.946T>Cp.W316RSubstitution - Missense11:102350894-102350894+
SH-3133COSM4145184c.1517C>Tp.A506VSubstitution - Missense11:102377646-102377646+
35MCOSM5580344c.526C>Tp.P176SSubstitution - Missense11:102350380-102350380+
TCGA-AG-A002-01COSM289647c.1384C>Tp.R462WSubstitution - Missense11:102377513-102377513+
229COSM4426167c.962A>Gp.D321GSubstitution - Missense11:102350910-102350910+
2292387COSM4610685c.1780G>Ap.E594KSubstitution - Missense11:102378106-102378106+
TCGA-04-1338-01COSM82024c.327C>Tp.S109SSubstitution - coding silent11:102350181-102350181+
TCGA-CA-6717-01COSM3687056c.811G>Ap.A271TSubstitution - Missense11:102350665-102350665+
SH-5693COSM5020386c.532A>Gp.S178GSubstitution - Missense11:102350386-102350386+
TCGA-EB-A431-01COSM3442669c.1129C>Tp.H377YSubstitution - Missense11:102368311-102368311+
B88-TumorCOSM1746004c.491G>Tp.R164ISubstitution - Missense11:102350345-102350345+
TCGA-BS-A0UF-01COSM922233c.1005C>Ap.F335LSubstitution - Missense11:102362905-102362905+
PD11342aCOSM5772975c.471T>Gp.S157SSubstitution - coding silent11:102350325-102350325+
TCGA-AZ-4315-01COSM922231c.758C>Ap.S253YSubstitution - Missense11:102350612-102350612+
TCGA-B5-A11J-01COSM922230c.582G>Ap.W194*Substitution - Nonsense11:102350436-102350436+
SH-1362COSM4145184c.1517C>Tp.A506VSubstitution - Missense11:102377646-102377646+
7bCOSM4657623c.1598C>Gp.S533CSubstitution - Missense11:102377727-102377727+
TCGA-FW-A3R5-06COSM3868271c.181C>Tp.P61SSubstitution - Missense11:102350035-102350035+
TCGA-D7-8570-01COSM4017245c.346C>Gp.L116VSubstitution - Missense11:102350200-102350200+
ME016TCOSM224994c.17C>Tp.S6FSubstitution - Missense11:102349871-102349871+
TCGA-BP-4756-01COSM3358982c.1350T>Cp.A450ASubstitution - coding silent11:102368532-102368532+
H650COSM1194665c.1026A>Tp.Q342HSubstitution - Missense11:102362926-102362926+
CSCC-27-TCOSM4466367c.1430C>Tp.P477LSubstitution - Missense11:102377559-102377559+
TCGA-FW-A3I3-06COSM3442668c.515C>Ap.S172*Substitution - Nonsense11:102350369-102350369+
U2940COSM5620351c.496G>Ap.V166ISubstitution - Missense11:102350350-102350350+
2334196COSM318925c.638G>Tp.G213VSubstitution - Missense11:102350492-102350492+
ESCC_45COSM5630260c.1066C>Gp.L356VSubstitution - Missense11:102362966-102362966+
TCGA-IR-A3L7-01COSM4849421c.155C>Tp.T52ISubstitution - Missense11:102350009-102350009+
ccRCC-17COSM1660776c.86C>Tp.S29LSubstitution - Missense11:102349940-102349940+
TCGA-AX-A05Z-01COSM922233c.1005C>Ap.F335LSubstitution - Missense11:102362905-102362905+
2497781COSM5751002c.899G>Ap.R300HSubstitution - Missense11:102350847-102350847+
ESCC-235TCOSM3935282c.973G>Cp.E325QSubstitution - Missense11:102350921-102350921+
K140COSM249480c.352T>Gp.S118ASubstitution - Missense11:102350206-102350206+
TCGA-D9-A4Z3-01COSM3442671c.1828A>Gp.K610ESubstitution - Missense11:102378154-102378154+
TCGA-AN-A046-01COSM3808183c.1356A>Cp.E452DSubstitution - Missense11:102368538-102368538+
sysucc-311TCOSM5477395c.206G>Ap.R69HSubstitution - Missense11:102350060-102350060+
TCGA-FW-A3R5-06COSM3868272c.467T>Ap.L156HSubstitution - Missense11:102350321-102350321+
2318491COSM4776597c.306G>Cp.K102NSubstitution - Missense11:102350160-102350160+
TCGA-FU-A3HZ-01COSM4839765c.42G>Ap.S14SSubstitution - coding silent11:102349896-102349896+
6COSM5732353c.1594G>Ap.D532NSubstitution - Missense11:102377723-102377723+
587376COSM1184720c.1734A>Cp.E578DSubstitution - Missense11:102378060-102378060+
PTC-14CCOSM4145184c.1517C>Tp.A506VSubstitution - Missense11:102377646-102377646+
9102_TCOSM5038698c.750delGp.E251fs*4Deletion - Frameshift11:102350604-102350604+
TCGA-AN-A046-01COSM3808181c.378G>Tp.K126NSubstitution - Missense11:102350232-102350232+
QGP1COSM2108177c.1416G>Tp.L472FSubstitution - Missense11:102377545-102377545+
254891COSM3724755c.270G>Tp.L90LSubstitution - coding silent11:102350124-102350124+
TCGA-CM-5861-01COSM1350364c.454T>Cp.S152PSubstitution - Missense11:102350308-102350308+
SC_9099COSM5549855c.1297G>Ap.A433TSubstitution - Missense11:102368479-102368479+
T3090COSM4665726c.699G>Tp.K233NSubstitution - Missense11:102350553-102350553+
T3094COSM4665727c.832T>Cp.Y278HSubstitution - Missense11:102350686-102350686+
I2L-P28-Tumor-OrganoidCOSM5360960c.3G>Ap.M1ISubstitution - Missense11:102349857-102349857+
107529COSM95580c.605C>Gp.S202*Substitution - Nonsense11:102350459-102350459+
PD4100aCOSM159372c.91T>Ap.W31RSubstitution - Missense11:102349945-102349945+
587222COSM1184718c.235G>Tp.D79YSubstitution - Missense11:102350089-102350089+
Au4COSM5602903c.378G>Ap.K126KSubstitution - coding silent11:102350232-102350232+
8012788COSM218290c.1748T>Ap.F583YSubstitution - Missense11:102378074-102378074+
TCGA-BP-4170-01COSM3358980c.545G>Ap.S182NSubstitution - Missense11:102350399-102350399+
ESCC-235TCOSM922228c.533G>Tp.S178ISubstitution - Missense11:102350387-102350387+
TCGA-J4-8198-01COSM1470384c.1501C>Gp.Q501ESubstitution - Missense11:102377630-102377630+
ESCC_BICR_071TCOSM5433457c.1633A>Gp.M545VSubstitution - Missense11:102377868-102377868+
CHC306TCOSM216932c.1723A>Gp.M575VSubstitution - Missense11:102378049-102378049+
TCGA-EK-A2RJ-01COSM4831917c.1762C>Gp.H588DSubstitution - Missense11:102378088-102378088+
71COSM5015042c.1525C>Ap.L509MSubstitution - Missense11:102377654-102377654+
TCGA-A5-A0GW-01COSM922232c.892G>Ap.V298MSubstitution - Missense11:102350746-102350746+
HCC84COSM1603944c.1808C>Tp.P603LSubstitution - Missense11:102378134-102378134+
TCGA-BR-7197-01COSM4017246c.575A>Gp.H192RSubstitution - Missense11:102350429-102350429+
TCGA-AX-A0J0-01COSM922235c.1522G>Tp.E508*Substitution - Nonsense11:102377651-102377651+
TCGA-BS-A0UF-01COSM922227c.27T>Gp.L9LSubstitution - coding silent11:102349881-102349881+
GBM5COSM4167423c.1008G>Cp.L336FSubstitution - Missense11:102362908-102362908+
1604875COSM141352c.1468A>Gp.K490ESubstitution - Missense11:102377597-102377597+
TCGA-BS-A0UV-01COSM922229c.542T>Cp.M181TSubstitution - Missense11:102350396-102350396+
TCGA-B0-4712-01COSM466206c.1013G>Tp.R338LSubstitution - Missense11:102362913-102362913+
112313COSM93963c.956G>Ap.G319ESubstitution - Missense11:102350904-102350904+
CHC306TCOSM216932c.1723A>Gp.M575VSubstitution - Missense11:102378049-102378049+
HCC84TCOSM1603944c.1808C>Tp.P603LSubstitution - Missense11:102378134-102378134+
SH-1641COSM4145184c.1517C>Tp.A506VSubstitution - Missense11:102377646-102377646+
B88COSM1746004c.491G>Tp.R164ISubstitution - Missense11:102350345-102350345+
TCGA-EE-A3AA-06COSM3442667c.421C>Tp.P141SSubstitution - Missense11:102350275-102350275+
TCGA-EI-6507-01COSM3415425c.1622T>Cp.V541ASubstitution - Missense11:102377857-102377857+
ESCC-235TCOSM3935281c.958G>Ap.D320NSubstitution - Missense11:102350906-102350906+
TCGA-BS-A0TC-01COSM922231c.758C>Ap.S253YSubstitution - Missense11:102350612-102350612+
ICGC_0013COSM218290c.1748T>Ap.F583YSubstitution - Missense11:102378074-102378074+
ESCC-235TCOSM3935279c.406G>Cp.A136PSubstitution - Missense11:102350260-102350260+
ccRCC-53COSM1660777c.709A>Gp.M237VSubstitution - Missense11:102350563-102350563+
PR-2682COSM243202c.714A>Cp.S238SSubstitution - coding silent11:102350568-102350568+
C0017TCOSM4422490c.896-1G>Tp.?Unknown11:102350843-102350843+
TCGA-EE-A29X-06COSM3442670c.1565A>Gp.N522SSubstitution - Missense11:102377694-102377694+
TCGA-06-0141-01COSM3397354c.206G>Tp.R69LSubstitution - Missense11:102350060-102350060+
T231COSM4665725c.263T>Cp.L88PSubstitution - Missense11:102350117-102350117+
CHC306TCOSM216932c.1723A>Gp.M575VSubstitution - Missense11:102378049-102378049+
CSCC-41-TCOSM4548615c.451G>Ap.G151SSubstitution - Missense11:102350305-102350305+
TCGA-85-6561-01COSM685793c.992C>Ap.P331QSubstitution - Missense11:102350940-102350940+
472COSM4437903c.1124T>Ap.I375NSubstitution - Missense11:102368306-102368306+
TCGA-B0-4714-01COSM3358981c.1193C>Ap.S398YSubstitution - Missense11:102368375-102368375+
LUAD-RT-S01702COSM378986c.171C>Tp.P57PSubstitution - coding silent11:102350025-102350025+
TCGA-BS-A0UJ-01COSM922237c.1785T>Cp.C595CSubstitution - coding silent11:102378111-102378111+
TCGA-CZ-5462-01COSM466205c.994A>Gp.R332GSubstitution - Missense11:102350942-102350942+
PT37COSM5920063c.1520G>Ap.R507KSubstitution - Missense11:102377649-102377649+
T578COSM922235c.1522G>Tp.E508*Substitution - Nonsense11:102377651-102377651+
TCGA-F5-6814-01COSM3415424c.1323A>Cp.K441NSubstitution - Missense11:102368505-102368505+
sysucc-274TCOSM5475463c.1385G>Ap.R462QSubstitution - Missense11:102377514-102377514+
sysucc-311TCOSM5477396c.1474G>Ap.E492KSubstitution - Missense11:102377603-102377603+
TCGA-AC-A23H-01COSM3808182c.907G>Tp.D303YSubstitution - Missense11:102350855-102350855+
1517_PTCOSM5753575c.1112C>Tp.A371VSubstitution - Missense11:102363705-102363705+
ESCC-235TCOSM3935280c.779G>Cp.S260TSubstitution - Missense11:102350633-102350633+
TCGA-AX-A0J0-01COSM922236c.1739C>Ap.S580YSubstitution - Missense11:102378065-102378065+
SNU-C2BCOSM2108160c.430G>Cp.E144QSubstitution - Missense11:102350284-102350284+
TCGA-AP-A059-01COSM922228c.533G>Tp.S178ISubstitution - Missense11:102350387-102350387+
134427COSM324816c.555A>Tp.E185DSubstitution - Missense11:102350409-102350409+
2293782COSM4608340c.93G>Tp.W31CSubstitution - Missense11:102349947-102349947+
L08COSM5368861c.139C>Tp.L47FSubstitution - Missense11:102349993-102349993+
PT13COSM5896102c.296C>Tp.P99LSubstitution - Missense11:102350150-102350150+
TCGA-CJ-4635-01COSM3358983c.1686G>Ap.L562LSubstitution - coding silent11:102378012-102378012+
H1155COSM1196082c.548C>Tp.T183ISubstitution - Missense11:102350402-102350402+
TCGA-BR-4257-01COSM4017244c.41C>Tp.S14LSubstitution - Missense11:102349895-102349895+
TCGA-BS-A0V8-01COSM922234c.1303C>Gp.L435VSubstitution - Missense11:102368485-102368485+
587376COSM1184719c.1266G>Tp.E422DSubstitution - Missense11:102368448-102368448+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.69623811q22601712
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
-AFrameshiftp.M237Nfs*24c.709dupA11102221294CM
AGMissensep.M575Vc.1723A>G11102248780HC
AGMissensep.N522Sc.1565A>G11102248425CM
AGMissensep.R332Gc.994A>G11102221673RCCC
ATMissensep.E185Dc.555A>T11102221140SCLC
CAMissensep.P331Qc.992C>A11102221671LUSC
CAMissensep.S253Yc.758C>A11102221343UCEC
CAMissensep.S398Yc.1193C>A11102239106RCCC
CGMissensep.L435Vc.1303C>G11102239216UCEC
CGMissensep.Q501Ec.1501C>G11102248361PRAD
CTMissensep.P141Sc.421C>T11102221006CM
CTMissensep.S14Lc.41C>T11102220626STAD
CTMissensep.S6Fc.17C>T11102220602CM
CTSynonymousp.S109Sc.327C>T11102220912OV
GAIntronicSNV.c.1-2273G>A11102218313DLBCL
GAMissensep.S182Nc.545G>A11102221130RCCC
GAMissensep.V298Mc.892G>A11102221477UCEC
GANonsensep.W194*c.582G>A11102221167UCEC
GASynonymousp.E288Ec.864G>A11102221449CM
GASynonymousp.L418Lc.1254G>A11102239167CM
GASynonymousp.L562Lc.1686G>A11102248743RCCC
GCMissensep.E357Qc.1069G>C11102233700HNSC
GTMissensep.D346Yc.1036G>T11102233667COREAD
GTMissensep.G213Vc.638G>T11102221223SCLC
GTMissensep.R69Lc.206G>T11102220791GBM
GTMissensep.V409Lc.1225G>T11102239138LUAD
TAMissensep.F583Yc.1748T>A11102248805PAAD
TAMissensep.W31Rc.91T>A11102220676BRCA
TCMissensep.W316Rc.946T>C11102221625CLL
TCSynonymousp.A450Ac.1350T>C11102239263RCCC