BTBD7
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA149370879793708797+Missense_MutationSNPGGATCGA-FD-A6TC-01A-21D-A339-08TCGA-FD-A6TC-10A-21D-A339-08g.chr14:93708797G>Ac.3221C>Tc.(3220-3222)tCa>tTap.S1074L
BLCA149370901193709011+Nonsense_MutationSNPCCATCGA-K4-A3WS-01A-11D-A22Z-08TCGA-K4-A3WS-10A-01D-A22Z-08g.chr14:93709011C>Ac.3007G>Tc.(3007-3009)Gaa>Taap.E1003*
BLCA149371218293712182+Missense_MutationSNPCCTTCGA-DK-A3IK-01A-32D-A21A-08TCGA-DK-A3IK-10A-01D-A21A-08g.chr14:93712182C>Tc.2572G>Ac.(2572-2574)Gag>Aagp.E858K
BLCA149371487893714878+Missense_MutationSNPGGCTCGA-GV-A3QH-01A-11D-A21Z-08TCGA-GV-A3QH-10A-01D-A21Z-08g.chr14:93714878G>Cc.2065C>Gc.(2065-2067)Cag>Gagp.Q689E
BLCA149371791993717919+Missense_MutationSNPGGATCGA-4Z-AA7M-01A-11D-A391-08TCGA-4Z-AA7M-10A-01D-A394-08g.chr14:93717919G>Ac.1832C>Tc.(1831-1833)aCg>aTgp.T611M
BLCA149371798693717986+Missense_MutationSNPCCTTCGA-H4-A2HQ-01A-11D-A17V-08TCGA-H4-A2HQ-10A-01D-A17V-08g.chr14:93717986C>Tc.1765G>Ac.(1765-1767)Gag>Aagp.E589K
BLCA149373016993730169+Missense_MutationSNPCCGTCGA-K4-A6MB-01A-11D-A31L-08TCGA-K4-A6MB-10A-01D-A31J-08g.chr14:93730169C>Gc.1333G>Cc.(1333-1335)Gac>Cacp.D445H
BLCA149373030993730309+Missense_MutationSNPGGATCGA-DK-A2I4-01A-11D-A21A-08TCGA-DK-A2I4-10A-01D-A21A-08g.chr14:93730309G>Ac.1193C>Tc.(1192-1194)tCa>tTap.S398L
BLCA149376026193760261+Missense_MutationSNPCCTTCGA-E7-A7XN-01A-11D-A34U-08TCGA-E7-A7XN-10A-01D-A34X-08g.chr14:93760261C>Tc.1105G>Ac.(1105-1107)Gaa>Aaap.E369K
BLCA149376039693760396+Missense_MutationSNPAAGTCGA-DK-A1A6-01A-11D-A13W-08TCGA-DK-A1A6-10A-01D-A13W-08g.chr14:93760396A>Gc.970T>Cc.(970-972)Tat>Catp.Y324H
BRCA149370868793708687+Missense_MutationSNPCCTTCGA-A8-A09Z-01A-11W-A019-09TCGA-A8-A09Z-10A-01W-A021-09g.chr14:93708687C>Tc.3331G>Ac.(3331-3333)Gat>Aatp.D1111N
BRCA149370902393709023+Missense_MutationSNPGGATCGA-D8-A147-01A-11D-A10Y-09TCGA-D8-A147-10A-01D-A110-09g.chr14:93709023G>Ac.2995C>Tc.(2995-2997)Cct>Tctp.P999S
BRCA149370917293709172+Nonsense_MutationSNPGGCTCGA-AO-A03M-01B-11D-A10M-09TCGA-AO-A03M-10A-01D-A10M-09g.chr14:93709172G>Cc.2846C>Gc.(2845-2847)tCa>tGap.S949*
BRCA149372368793723687+Missense_MutationSNPTTGTCGA-C8-A12P-01A-11D-A10Y-09TCGA-C8-A12P-10A-01D-A110-09g.chr14:93723687T>Gc.1462A>Cc.(1462-1464)Agt>Cgtp.S488R
CESC149370919093709190+Missense_MutationSNPGGATCGA-EK-A2R7-01A-11D-A18J-09TCGA-EK-A2R7-10A-01D-A18J-09g.chr14:93709190G>Ac.2828C>Tc.(2827-2829)cCg>cTgp.P943L
CESC149371798693717986+Missense_MutationSNPCCGTCGA-IR-A3LK-01A-12D-A20U-09TCGA-IR-A3LK-10A-01D-A20U-09g.chr14:93717986C>Gc.1765G>Cc.(1765-1767)Gag>Cagp.E589Q
CESC149376044593760445+Missense_MutationSNPCCGTCGA-Q1-A73O-01A-11D-A32I-09TCGA-Q1-A73O-10B-01D-A32I-09g.chr14:93760445C>Gc.921G>Cc.(919-921)ttG>ttCp.L307F
COAD149370872693708726+Missense_MutationSNPCCATCGA-AA-A01Q-01A-01W-A005-10TCGA-AA-A01Q-10A-01W-A005-10g.chr14:93708726C>Ac.3292G>Tc.(3292-3294)Ggc>Tgcp.G1098C
COAD149370882493708824+Missense_MutationSNPGGATCGA-A6-6780-01A-11D-1835-10TCGA-A6-6780-10A-01D-1835-10g.chr14:93708824G>Ac.3194C>Tc.(3193-3195)aCt>aTtp.T1065I
COAD149370918893709188+Missense_MutationSNPCCATCGA-A6-3810-01A-01W-0995-10TCGA-A6-3810-11A-01W-0995-10g.chr14:93709188C>Ac.2830G>Tc.(2830-2832)Gat>Tatp.D944Y
COAD149370923993709240+Frame_Shift_InsINS--TTCGA-A6-6781-01A-22D-1924-10TCGA-A6-6781-10A-01D-1924-10g.chr14:93709239_93709240insTc.2778_2779insAc.(2776-2781)aaacacfsp.H927fs
COAD149371226193712261+SilentSNPTTCTCGA-AA-3663-01A-01D-1719-10TCGA-AA-3663-11A-01D-1719-10g.chr14:93712261T>Cc.2493A>Gc.(2491-2493)gcA>gcGp.A831A
COAD149371245193712451+Frame_Shift_DelDELGG-TCGA-F4-6856-01A-11D-1924-10TCGA-F4-6856-10A-01D-1924-10g.chr14:93712451delGc.2303delCc.(2302-2304)ccafsp.P768fs
COAD149371247593712475+Frame_Shift_DelDELGG-TCGA-A6-5665-01A-01D-1650-10TCGA-A6-5665-10A-01D-1650-10g.chr14:93712475delGc.2279delCc.(2278-2280)cctfsp.P764fs
COAD149371487293714872+Nonsense_MutationSNPGGATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr14:93714872G>Ac.2071C>Tc.(2071-2073)Cga>Tgap.R691*
COAD149371789193717891+SilentSNPTTCTCGA-AA-3811-01A-01W-0995-10TCGA-AA-3811-10A-01W-0995-10g.chr14:93717891T>Cc.1860A>Gc.(1858-1860)ccA>ccGp.P620P
COAD149373019593730195+Missense_MutationSNPGGATCGA-AA-3984-01A-02W-0995-10TCGA-AA-3984-10A-01W-0999-10g.chr14:93730195G>Ac.1307C>Tc.(1306-1308)tCg>tTgp.S436L
COAD149373019593730195+Missense_MutationSNPGGATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr14:93730195G>Ac.1307C>Tc.(1306-1308)tCg>tTgp.S436L
COAD149375498593754985+IntronSNPAAGTCGA-AA-3984-01A-02W-0995-10TCGA-AA-3984-10A-01W-0999-10g.chr14:93754985A>G
COAD149376029193760291+Missense_MutationSNPCCATCGA-CM-6675-01A-11D-1835-10TCGA-CM-6675-10A-01D-1835-10g.chr14:93760291C>Ac.1075G>Tc.(1075-1077)Gca>Tcap.A359S
COAD149376062493760624+Missense_MutationSNPCCGTCGA-G4-6626-01A-11D-1771-10TCGA-G4-6626-10A-01D-1771-10g.chr14:93760624C>Gc.742G>Cc.(742-744)Gat>Catp.D248H
COAD149376072893760728+Missense_MutationSNPCCATCGA-CM-6171-01A-11D-1650-10TCGA-CM-6171-10A-01D-1650-10g.chr14:93760728C>Ac.638G>Tc.(637-639)aGg>aTgp.R213M
COAD149376234493762345+Frame_Shift_InsINS--CTCGA-AA-A00E-01A-01W-A005-10TCGA-AA-A00E-10A-01W-A005-10g.chr14:93762344_93762345insCc.53_54insGc.(52-54)ggafsp.G18fs
COADREAD149370872693708726+Missense_MutationSNPCCATCGA-AA-A01Q-01A-01W-A005-10TCGA-AA-A01Q-10A-01W-A005-10g.chr14:93708726C>Ac.3292G>Tc.(3292-3294)Ggc>Tgcp.G1098C
COADREAD149370882493708824+Missense_MutationSNPGGATCGA-A6-6780-01A-11D-1835-10TCGA-A6-6780-10A-01D-1835-10g.chr14:93708824G>Ac.3194C>Tc.(3193-3195)aCt>aTtp.T1065I
COADREAD149370918893709188+Missense_MutationSNPCCATCGA-A6-3810-01A-01W-0995-10TCGA-A6-3810-11A-01W-0995-10g.chr14:93709188C>Ac.2830G>Tc.(2830-2832)Gat>Tatp.D944Y
COADREAD149370923993709240+Frame_Shift_InsINS--TTCGA-A6-6781-01A-22D-1924-10TCGA-A6-6781-10A-01D-1924-10g.chr14:93709239_93709240insTc.2778_2779insAc.(2776-2781)aaacacfsp.H927fs
COADREAD149371226193712261+SilentSNPTTCTCGA-AA-3663-01A-01D-1719-10TCGA-AA-3663-11A-01D-1719-10g.chr14:93712261T>Cc.2493A>Gc.(2491-2493)gcA>gcGp.A831A
COADREAD149371245193712451+Frame_Shift_DelDELGG-TCGA-F4-6856-01A-11D-1924-10TCGA-F4-6856-10A-01D-1924-10g.chr14:93712451delGc.2303delCc.(2302-2304)ccafsp.P768fs
COADREAD149371247593712475+Frame_Shift_DelDELGG-TCGA-A6-5665-01A-01D-1650-10TCGA-A6-5665-10A-01D-1650-10g.chr14:93712475delGc.2279delCc.(2278-2280)cctfsp.P764fs
COADREAD149371487293714872+Nonsense_MutationSNPGGATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr14:93714872G>Ac.2071C>Tc.(2071-2073)Cga>Tgap.R691*
COADREAD149371789193717891+SilentSNPTTCTCGA-AA-3811-01A-01W-0995-10TCGA-AA-3811-10A-01W-0995-10g.chr14:93717891T>Cc.1860A>Gc.(1858-1860)ccA>ccGp.P620P
COADREAD149373019593730195+Missense_MutationSNPGGATCGA-AA-3984-01A-02W-0995-10TCGA-AA-3984-10A-01W-0999-10g.chr14:93730195G>Ac.1307C>Tc.(1306-1308)tCg>tTgp.S436L
COADREAD149373019593730195+Missense_MutationSNPGGATCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr14:93730195G>Ac.1307C>Tc.(1306-1308)tCg>tTgp.S436L
COADREAD149375498593754985+IntronSNPAAGTCGA-AA-3984-01A-02W-0995-10TCGA-AA-3984-10A-01W-0999-10g.chr14:93754985A>G
COADREAD149376029193760291+Missense_MutationSNPCCATCGA-CM-6675-01A-11D-1835-10TCGA-CM-6675-10A-01D-1835-10g.chr14:93760291C>Ac.1075G>Tc.(1075-1077)Gca>Tcap.A359S
COADREAD149376062493760624+Missense_MutationSNPCCGTCGA-G4-6626-01A-11D-1771-10TCGA-G4-6626-10A-01D-1771-10g.chr14:93760624C>Gc.742G>Cc.(742-744)Gat>Catp.D248H
COADREAD149376072893760728+Missense_MutationSNPCCATCGA-CM-6171-01A-11D-1650-10TCGA-CM-6171-10A-01D-1650-10g.chr14:93760728C>Ac.638G>Tc.(637-639)aGg>aTgp.R213M
COADREAD149376234493762345+Frame_Shift_InsINS--CTCGA-AA-A00E-01A-01W-A005-10TCGA-AA-A00E-10A-01W-A005-10g.chr14:93762344_93762345insCc.53_54insGc.(52-54)ggafsp.G18fs
DLBC149370922093709221+Frame_Shift_InsINS--TTCGA-FF-8062-01A-11D-2210-10TCGA-FF-8062-10A-01D-2210-10g.chr14:93709220_93709221insTc.2797_2798insAc.(2797-2799)acafsp.T933fs
DLBC149371229093712290+Missense_MutationSNPCCATCGA-G8-6325-01A-11D-2210-10TCGA-G8-6325-10A-01D-2210-10g.chr14:93712290C>Ac.2464G>Tc.(2464-2466)Gct>Tctp.A822S
ESCA149372358893723588+Nonsense_MutationSNPGGATCGA-L5-A8NU-01A-11D-A36J-09TCGA-L5-A8NU-11A-11D-A36M-09g.chr14:93723588G>Ac.1561C>Tc.(1561-1563)Cga>Tgap.R521*
ESCA149376073393760733+Missense_MutationSNPGGTTCGA-L5-A4OJ-01A-11D-A27G-09TCGA-L5-A4OJ-11A-12D-A27G-09g.chr14:93760733G>Tc.633C>Ac.(631-633)gaC>gaAp.D211E
GBMLGG149373019493730194+SilentSNPCCTTCGA-S9-A6U9-01A-11D-A32B-08TCGA-S9-A6U9-10A-01D-A329-08g.chr14:93730194C>Tc.1308G>Ac.(1306-1308)tcG>tcAp.S436S
HNSC149370888993708889+SilentSNPGGATCGA-CV-7446-01A-11D-2229-08TCGA-CV-7446-10A-01D-2229-08g.chr14:93708889G>Ac.3129C>Tc.(3127-3129)gcC>gcTp.A1043A
HNSC149370913893709138+SilentSNPGGATCGA-CV-7406-01A-11D-2078-08TCGA-CV-7406-10A-01D-2078-08g.chr14:93709138G>Ac.2880C>Tc.(2878-2880)ctC>ctTp.L960L
HNSC149371218293712182+Nonsense_MutationSNPCCATCGA-HD-A633-01A-11D-A28R-08TCGA-HD-A633-10A-01D-A28U-08g.chr14:93712182C>Ac.2572G>Tc.(2572-2574)Gag>Tagp.E858*
HNSC149371223393712233+Missense_MutationSNPCCTTCGA-CQ-7071-01A-12D-A30E-08TCGA-CQ-7071-10A-01D-A30H-08g.chr14:93712233C>Tc.2521G>Ac.(2521-2523)Gct>Actp.A841T
HNSC149371255093712550+Missense_MutationSNPAAGTCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr14:93712550A>Gc.2204T>Cc.(2203-2205)gTa>gCap.V735A
HNSC149371795693717956+Missense_MutationSNPGGATCGA-CN-4726-01A-01D-1434-08TCGA-CN-4726-10A-01D-1434-08g.chr14:93717956G>Ac.1795C>Tc.(1795-1797)Cgc>Tgcp.R599C
HNSC149372357493723574+Missense_MutationSNPGGCTCGA-KU-A66S-01A-21D-A30E-08TCGA-KU-A66S-10A-01D-A30H-08g.chr14:93723574G>Cc.1575C>Gc.(1573-1575)atC>atGp.I525M
HNSC149372366393723663+Missense_MutationSNPTTGTCGA-CV-6937-01A-11D-2012-08TCGA-CV-6937-10A-01D-2013-08g.chr14:93723663T>Gc.1486A>Cc.(1486-1488)Aaa>Caap.K496Q
HNSC149373016593730165+Missense_MutationSNPTTATCGA-BA-A6DF-01A-11D-A30E-08TCGA-BA-A6DF-10A-01D-A30H-08g.chr14:93730165T>Ac.1337A>Tc.(1336-1338)cAt>cTtp.H446L
HNSC149376039693760396+Missense_MutationSNPAAGTCGA-CV-5443-01A-01D-1512-08TCGA-CV-5443-11A-01D-1512-08g.chr14:93760396A>Gc.970T>Cc.(970-972)Tat>Catp.Y324H
HNSC149376071493760714+Missense_MutationSNPCCTTCGA-F7-A622-01A-11D-A28R-08TCGA-F7-A622-10A-01D-A28U-08g.chr14:93760714C>Tc.652G>Ac.(652-654)Gat>Aatp.D218N
HNSC149376074193760741+Missense_MutationSNPTTCTCGA-UF-A7JS-01A-11D-A34J-08TCGA-UF-A7JS-10A-01D-A34M-08g.chr14:93760741T>Cc.625A>Gc.(625-627)Atg>Gtgp.M209V
KIPAN149370887193708871+SilentSNPGGTTCGA-G7-6796-01A-11D-1961-08TCGA-G7-6796-10A-01D-1962-08g.chr14:93708871G>Tc.3147C>Ac.(3145-3147)acC>acAp.T1049T
KIPAN149370919193709191+Missense_MutationSNPGGCTCGA-BP-4960-01A-01D-1462-08TCGA-BP-4960-11A-01D-1462-08g.chr14:93709191G>Cc.2827C>Gc.(2827-2829)Ccg>Gcgp.P943A
KIPAN149373018693730186+Missense_MutationSNPAACTCGA-HE-7128-01A-11D-1961-08TCGA-HE-7128-10A-01D-1962-08g.chr14:93730186A>Cc.1316T>Gc.(1315-1317)tTt>tGtp.F439C
KIPAN149376103293761032+Missense_MutationSNPTTGTCGA-5P-A9K6-01A-11D-A42J-10TCGA-5P-A9K6-10A-01D-A42M-10g.chr14:93761032T>Gc.334A>Cc.(334-336)Aag>Cagp.K112Q
KIPAN149376113493761134+Missense_MutationSNPTTCTCGA-CJ-4873-01A-01D-1373-10TCGA-CJ-4873-11A-01D-1373-10g.chr14:93761134T>Cc.232A>Gc.(232-234)Agg>Gggp.R78G
KIPAN149376238193762381+Missense_MutationSNPGGCTCGA-CJ-4900-01A-01D-1462-08TCGA-CJ-4900-11A-01D-1462-08g.chr14:93762381G>Cc.17C>Gc.(16-18)tCt>tGtp.S6C
KIRC149370919193709191+Missense_MutationSNPGGCTCGA-BP-4960-01A-01D-1462-08TCGA-BP-4960-11A-01D-1462-08g.chr14:93709191G>Cc.2827C>Gc.(2827-2829)Ccg>Gcgp.P943A
KIRC149376113493761134+Missense_MutationSNPTTCTCGA-CJ-4873-01A-01D-1373-10TCGA-CJ-4873-11A-01D-1373-10g.chr14:93761134T>Cc.232A>Gc.(232-234)Agg>Gggp.R78G
KIRC149376238193762381+Missense_MutationSNPGGCTCGA-CJ-4900-01A-01D-1462-08TCGA-CJ-4900-11A-01D-1462-08g.chr14:93762381G>Cc.17C>Gc.(16-18)tCt>tGtp.S6C
KIRP149370887193708871+SilentSNPGGTTCGA-G7-6796-01A-11D-1961-08TCGA-G7-6796-10A-01D-1962-08g.chr14:93708871G>Tc.3147C>Ac.(3145-3147)acC>acAp.T1049T
KIRP149373018693730186+Missense_MutationSNPAACTCGA-HE-7128-01A-11D-1961-08TCGA-HE-7128-10A-01D-1962-08g.chr14:93730186A>Cc.1316T>Gc.(1315-1317)tTt>tGtp.F439C
KIRP149376103293761032+Missense_MutationSNPTTGTCGA-5P-A9K6-01A-11D-A42J-10TCGA-5P-A9K6-10A-01D-A42M-10g.chr14:93761032T>Gc.334A>Cc.(334-336)Aag>Cagp.K112Q
LGG149373019493730194+SilentSNPCCTTCGA-S9-A6U9-01A-11D-A32B-08TCGA-S9-A6U9-10A-01D-A329-08g.chr14:93730194C>Tc.1308G>Ac.(1306-1308)tcG>tcAp.S436S
LIHC149370938393709383+Missense_MutationSNPAAGTCGA-DD-A39Z-01A-11D-A20W-10TCGA-DD-A39Z-11A-21D-A20W-10g.chr14:93709383A>Gc.2635T>Cc.(2635-2637)Tcc>Cccp.S879P
LIHC149371248193712481+Missense_MutationSNPAACTCGA-DD-AACU-01A-11D-A40R-10TCGA-DD-AACU-10A-01D-A40U-10g.chr14:93712481A>Cc.2273T>Gc.(2272-2274)tTg>tGgp.L758W
LIHC149371257893712578+Missense_MutationSNPTTCTCGA-DD-A39Y-01A-11D-A20W-10TCGA-DD-A39Y-11A-11D-A20W-10g.chr14:93712578T>Cc.2176A>Gc.(2176-2178)Aca>Gcap.T726A
LIHC149371487293714872+Nonsense_MutationSNPGGATCGA-ED-A459-01A-11D-A25V-10TCGA-ED-A459-10A-01D-A25V-10g.chr14:93714872G>Ac.2071C>Tc.(2071-2073)Cga>Tgap.R691*
LIHC149372003893720038+SilentSNPGGTTCGA-FV-A3R2-01A-11D-A22F-10TCGA-FV-A3R2-11A-11D-A22F-10g.chr14:93720038G>Tc.1707C>Ac.(1705-1707)atC>atAp.I569I
LIHC149372004293720042+Missense_MutationSNPCCTTCGA-CC-A7IF-01A-11D-A33K-10TCGA-CC-A7IF-10A-01D-A33K-10g.chr14:93720042C>Tc.1703G>Ac.(1702-1704)gGc>gAcp.G568D
LUAD149370911193709111+Missense_MutationSNPTTATCGA-MP-A4TD-01A-32D-A25L-08TCGA-MP-A4TD-10A-01D-A25L-08g.chr14:93709111T>Ac.2907A>Tc.(2905-2907)caA>caTp.Q969H
LUAD149370912893709128+Missense_MutationSNPTTGTCGA-38-4632-01A-01D-1753-08TCGA-38-4632-11A-01D-1753-08g.chr14:93709128T>Gc.2890A>Cc.(2890-2892)Acc>Cccp.T964P
LUAD149370936593709365+Missense_MutationSNPCCATCGA-49-4488-01A-01D-1753-08TCGA-49-4488-11A-01D-1753-08g.chr14:93709365C>Ac.2653G>Tc.(2653-2655)Gac>Tacp.D885Y
LUAD149371255193712551+Missense_MutationSNPCCATCGA-64-1679-01A-21D-2063-08TCGA-64-1679-10A-01D-2063-08g.chr14:93712551C>Ac.2203G>Tc.(2203-2205)Gta>Ttap.V735L
LUAD149371490293714902+Missense_MutationSNPCCATCGA-MN-A4N4-01A-12D-A24P-08TCGA-MN-A4N4-10A-01D-A24P-08g.chr14:93714902C>Ac.2041G>Tc.(2041-2043)Ggc>Tgcp.G681C
LUAD149371791893717918+SilentSNPCCATCGA-69-A59K-01A-11D-A25L-08TCGA-69-A59K-10A-01D-A25L-08g.chr14:93717918C>Ac.1833G>Tc.(1831-1833)acG>acTp.T611T
LUAD149371999293719992+Splice_SiteDELCC-TCGA-86-6851-01A-11D-1945-08TCGA-86-6851-10A-01D-1946-08g.chr14:93719992delCc.e7+1
LUAD149372012993720129+Missense_MutationSNPCCGTCGA-78-7539-01A-11D-2063-08TCGA-78-7539-10A-01D-2063-08g.chr14:93720129C>Gc.1616G>Cc.(1615-1617)aGa>aCap.R539T
LUAD149372364393723643+SilentSNPCCATCGA-17-Z022-01A-01W-0746-08TCGA-17-Z022-11A-01W-0746-08g.chr14:93723643C>Ac.1506G>Tc.(1504-1506)cgG>cgTp.R502R
LUAD149376023293760232+SilentSNPCCGTCGA-55-6987-01A-11D-1945-08TCGA-55-6987-11A-01D-1945-08g.chr14:93760232C>Gc.1134G>Cc.(1132-1134)ctG>ctCp.L378L
LUAD149376047693760476+Missense_MutationSNPCCATCGA-MN-A4N4-01A-12D-A24P-08TCGA-MN-A4N4-10A-01D-A24P-08g.chr14:93760476C>Ac.890G>Tc.(889-891)cGa>cTap.R297L
LUAD149376103693761036+SilentSNPTTCTCGA-50-6590-01A-12D-1855-08TCGA-50-6590-11A-01D-1855-08g.chr14:93761036T>Cc.330A>Gc.(328-330)gcA>gcGp.A110A
LUSC149370894693708946+SilentSNPCCTTCGA-18-3409-01A-01D-0983-08TCGA-18-3409-11A-01D-0983-08g.chr14:93708946C>Tc.3072G>Ac.(3070-3072)ccG>ccAp.P1024P
LUSC149372799293727992+Missense_MutationSNPAAGTCGA-66-2788-01A-01D-0983-08TCGA-66-2788-11A-01D-0983-08g.chr14:93727992A>Gc.1403T>Cc.(1402-1404)aTt>aCtp.I468T
LUSC149376125693761256+Missense_MutationSNPTTCTCGA-66-2788-01A-01D-0983-08TCGA-66-2788-11A-01D-0983-08g.chr14:93761256T>Cc.110A>Gc.(109-111)tAt>tGtp.Y37C
OV149370934893709348+SilentSNPCCTTCGA-29-1763-01A-02W-0633-09TCGA-29-1763-10A-01W-0633-09g.chr14:93709348C>Tc.2670G>Ac.(2668-2670)gaG>gaAp.E890E
PAAD149370908493709084+SilentSNPGGATCGA-US-A77E-01A-11D-A32N-08TCGA-US-A77E-11A-11D-A32N-08g.chr14:93709084G>Ac.2934C>Tc.(2932-2934)taC>taTp.Y978Y
PAAD149371255293712552+SilentSNPGGATCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr14:93712552G>Ac.2202C>Tc.(2200-2202)cgC>cgTp.R734R
PAAD149373024493730244+Nonsense_MutationSNPGGATCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr14:93730244G>Ac.1258C>Tc.(1258-1260)Cga>Tgap.R420*
PAAD149376112693761126+SilentSNPGGTTCGA-YB-A89D-01A-12D-A36O-08TCGA-YB-A89D-10A-01D-A367-08g.chr14:93761126G>Tc.240C>Ac.(238-240)gcC>gcAp.A80A
PAAD149376124893761248+Nonsense_MutationSNPCCATCGA-HZ-A8P0-01A-11D-A36O-08TCGA-HZ-A8P0-10A-01D-A367-08g.chr14:93761248C>Ac.118G>Tc.(118-120)Gaa>Taap.E40*
PRAD149370885693708856+SilentSNPGGATCGA-V1-A9OT-01A-11D-A41K-08TCGA-V1-A9OT-10A-01D-A41N-08g.chr14:93708856G>Ac.3162C>Tc.(3160-3162)gtC>gtTp.V1054V
PRAD149370899393708993+Missense_MutationSNPAAGTCGA-J9-A52C-01A-11D-A26M-08TCGA-J9-A52C-10A-01D-A26K-08g.chr14:93708993A>Gc.3025T>Cc.(3025-3027)Tat>Catp.Y1009H
PRAD149370903393709033+SilentSNPAATTCGA-EJ-A65F-01A-21D-A30X-08TCGA-EJ-A65F-10A-01D-A30X-08g.chr14:93709033A>Tc.2985T>Ac.(2983-2985)ggT>ggAp.G995G
SKCM149370889993708899+Missense_MutationSNPGGATCGA-EE-A29D-06A-11D-A197-08TCGA-EE-A29D-10A-01D-A199-08g.chr14:93708899G>Ac.3119C>Tc.(3118-3120)cCt>cTtp.P1040L
SKCM149370897193708971+Missense_MutationSNPTTCTCGA-EE-A2GI-06A-11D-A196-08TCGA-EE-A2GI-10A-01D-A198-08g.chr14:93708971T>Cc.3047A>Gc.(3046-3048)cAt>cGtp.H1016R
SKCM149370911993709119+Missense_MutationSNPGGATCGA-D3-A3C8-06A-12D-A19A-08TCGA-D3-A3C8-10A-01D-A19A-08g.chr14:93709119G>Ac.2899C>Tc.(2899-2901)Cct>Tctp.P967S
SKCM149370939693709396+SilentSNPGGATCGA-EE-A2MR-06A-11D-A196-08TCGA-EE-A2MR-10A-01D-A198-08g.chr14:93709396G>Ac.2622C>Tc.(2620-2622)atC>atTp.I874I
SKCM149371222993712229+Missense_MutationSNPGGATCGA-EE-A2GT-06A-12D-A197-08TCGA-EE-A2GT-10A-01D-A199-08g.chr14:93712229G>Ac.2525C>Tc.(2524-2526)gCc>gTcp.A842V
SKCM149371256293712562+Missense_MutationSNPCCTTCGA-D3-A1Q8-06A-11D-A19A-08TCGA-D3-A1Q8-10A-01D-A19A-08g.chr14:93712562C>Tc.2192G>Ac.(2191-2193)gGg>gAgp.G731E
SKCM149371258693712586+Missense_MutationSNPGGATCGA-D9-A6E9-06A-12D-A30X-08TCGA-D9-A6E9-10A-01D-A30X-08g.chr14:93712586G>Ac.2168C>Tc.(2167-2169)cCa>cTap.P723L
SKCM149372001393720013+Missense_MutationSNPGGATCGA-EE-A2MI-06A-11D-A197-08TCGA-EE-A2MI-10A-01D-A199-08g.chr14:93720013G>Ac.1732C>Tc.(1732-1734)Ccc>Tccp.P578S
SKCM149372359093723590+Missense_MutationSNPAAGTCGA-D3-A1Q8-06A-11D-A19A-08TCGA-D3-A1Q8-10A-01D-A19A-08g.chr14:93723590A>Gc.1559T>Cc.(1558-1560)gTg>gCgp.V520A
SKCM149372360593723605+Missense_MutationSNPGGATCGA-EE-A2MT-06A-11D-A197-08TCGA-EE-A2MT-10A-01D-A199-08g.chr14:93723605G>Ac.1544C>Tc.(1543-1545)tCt>tTtp.S515F
SKCM149372800693728006+SilentSNPGGATCGA-D3-A2J8-06A-11D-A196-08TCGA-D3-A2J8-10A-01D-A198-08g.chr14:93728006G>Ac.1389C>Tc.(1387-1389)atC>atTp.I463I
SKCM149373021093730210+Missense_MutationSNPGGATCGA-DA-A1I1-06A-12D-A196-08TCGA-DA-A1I1-10A-01D-A198-08g.chr14:93730210G>Ac.1292C>Tc.(1291-1293)tCc>tTcp.S431F
SKCM149373027393730273+Missense_MutationSNPGGATCGA-FS-A4F8-06A-11D-A25O-08TCGA-FS-A4F8-10B-01D-A25O-08g.chr14:93730273G>Ac.1229C>Tc.(1228-1230)tCt>tTtp.S410F
SKCM149375501393755013+IntronSNPAAGTCGA-FS-A1Z0-06A-11D-A197-08TCGA-FS-A1Z0-10A-01D-A199-08g.chr14:93755013A>G
SKCM149376050193760501+Nonsense_MutationSNPGGATCGA-EE-A2GM-06B-11D-A196-08TCGA-EE-A2GM-10A-01D-A198-08g.chr14:93760501G>Ac.865C>Tc.(865-867)Cga>Tgap.R289*
SKCM149376051093760510+Missense_MutationSNPGGATCGA-EE-A2GC-06A-11D-A197-08TCGA-EE-A2GC-10A-01D-A199-08g.chr14:93760510G>Ac.856C>Tc.(856-858)Cca>Tcap.P286S
SKCM149376239393762393+Missense_MutationSNPCCTTCGA-D3-A3MU-06A-11D-A21A-08TCGA-D3-A3MU-10A-01D-A21A-08g.chr14:93762393C>Tc.5G>Ac.(4-6)gGt>gAtp.G2D
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-BR-8078-01COSM4053117c.178A>Gp.T60ASubstitution - Missense14:93294842-93294842-
SC_9094COSM2252240c.3106C>Tp.R1036WSubstitution - Missense14:93242566-93242566-
TCGA-B5-A11Y-01COSM958950c.1714C>Tp.R572CSubstitution - Missense14:93253685-93253685-
SA090COSM212000c.1759C>Gp.L587VSubstitution - Missense14:93251646-93251646-
sysucc-311TCOSM5478789c.2133A>Cp.K711NSubstitution - Missense14:93246275-93246275-
Pat_76_BCOSM3499059c.2899C>Tp.P967SSubstitution - Missense14:93242773-93242773-
YUTRAINCOSM5382901c.1507G>Ap.D503NSubstitution - Missense14:93257296-93257296-
TCGA-B0-5709-01COSM470359c.1554T>Cp.P518PSubstitution - coding silent14:93257249-93257249-
TCGA-EE-A2GI-06COSM3499058c.3047A>Gp.H1016RSubstitution - Missense14:93242625-93242625-
TCGA-A6-6781-01COSM1371644c.2778_2779insAp.H927fs*21Insertion - Frameshift14:93242893-93242894-
YUBANCOSM1707744c.764C>Gp.S255*Substitution - Nonsense14:93294256-93294256-
TCGA-AP-A056-01COSM958945c.1933G>Ap.E645KSubstitution - Missense14:93251472-93251472-
SNU-C2BCOSM1371648c.1697delAp.N566fs*22Deletion - Frameshift14:93253702-93253702-
TCGA-EM-A3O9-01COSM3370103c.1901A>Gp.N634SSubstitution - Missense14:93251504-93251504-
NPC8FCOSM4995545c.2486G>Tp.S829ISubstitution - Missense14:93245922-93245922-
TCGA-GV-A3QH-01COSM1300916c.2065C>Gp.Q689ESubstitution - Missense14:93248532-93248532-
TCGA-J9-A52C-01COSM4877183c.3025T>Cp.Y1009HSubstitution - Missense14:93242647-93242647-
TCGA-BS-A0UV-01COSM198424c.1307C>Tp.S436LSubstitution - Missense14:93263849-93263849-
TCGA-EK-A2R7-01COSM4852225c.2828C>Tp.P943LSubstitution - Missense14:93242844-93242844-
ESCC-159TCOSM3936672c.2000C>Ap.T667KSubstitution - Missense14:93248597-93248597-
TCGA-D1-A103-01COSM958948c.1761A>Gp.L587LSubstitution - coding silent14:93251644-93251644-
LIM1899COSM1608075c.3003_3004insAp.Q1002fs*5Insertion - Frameshift14:93242668-93242669-
TCGA-EI-6917-01COSM3420107c.3031C>Tp.L1011FSubstitution - Missense14:93242641-93242641-
ESCC_11COSM5624281c.1505G>Ap.R502QSubstitution - Missense14:93257298-93257298-
Pa18CCOSM84264c.2937C>Gp.S979RSubstitution - Missense14:93242735-93242735-
6948_PTCOSM5754651c.796A>Cp.N266HSubstitution - Missense14:93294224-93294224-
TCGA-D3-A3MU-06COSM3499074c.5G>Ap.G2DSubstitution - Missense14:93296047-93296047-
PD8611aCOSM5775390c.1008G>Tp.V336VSubstitution - coding silent14:93294012-93294012-
TCGA-K4-A3WS-01COSM3793972c.3007G>Tp.E1003*Substitution - Nonsense14:93242665-93242665-
BD124TCOSM4053119c.117C>Tp.C39CSubstitution - coding silent14:93294903-93294903-
1N45-VS-1T45COSM4975795c.3035C>Ap.S1012YSubstitution - Missense14:93242637-93242637-
STC252COSM5054162c.2526C>Tp.A842ASubstitution - coding silent14:93245882-93245882-
TCGA-F4-6703-01COSM1371648c.1697delAp.N566fs*22Deletion - Frameshift14:93253702-93253702-
2521259COSM3420108c.865C>Tp.R289*Substitution - Nonsense14:93294155-93294155-
TCGA-AP-A051-01COSM958951c.1700C>Ap.A567DSubstitution - Missense14:93253699-93253699-
Pat_40_BCOSM4666350c.2372G>Ap.R791HSubstitution - Missense14:93246036-93246036-
HCC27COSM279216c.2071C>Tp.R691*Substitution - Nonsense14:93248526-93248526-
TCGA-BR-6452-01COSM4053119c.117C>Tp.C39CSubstitution - coding silent14:93294903-93294903-
HX33TCOSM279216c.2071C>Tp.R691*Substitution - Nonsense14:93248526-93248526-
TCGA-AA-A010-01COSM279216c.2071C>Tp.R691*Substitution - Nonsense14:93248526-93248526-
TCGA-A5-A0GP-01COSM958940c.2904G>Ap.S968SSubstitution - coding silent14:93242768-93242768-
TCGA-AA-3663-01COSM1371645c.2493A>Gp.A831ASubstitution - coding silent14:93245915-93245915-
B52-TumorCOSM1749025c.244C>Gp.H82DSubstitution - Missense14:93294776-93294776-
T3225COSM4666352c.2105C>Tp.A702VSubstitution - Missense14:93248492-93248492-
TCGA-29-1763-01COSM1323325c.2670G>Ap.E890ESubstitution - coding silent14:93243002-93243002-
TCGA-BR-6452-01COSM4053113c.614G>Tp.G205VSubstitution - Missense14:93294406-93294406-
sysucc-274TCOSM5475807c.2510C>Tp.T837MSubstitution - Missense14:93245898-93245898-
TCGA-ED-A459-01COSM279216c.2071C>Tp.R691*Substitution - Nonsense14:93248526-93248526-
HCT15COSM2252242c.3008A>Gp.E1003GSubstitution - Missense14:93242664-93242664-
TCGA-C8-A12P-01COSM433508c.1462A>Cp.S488RSubstitution - Missense14:93257341-93257341-
2492713COSM5606358c.2317C>Tp.H773YSubstitution - Missense14:93246091-93246091-
TCGA-HU-A4GX-01COSM4053109c.976A>Gp.T326ASubstitution - Missense14:93294044-93294044-
TCGA-18-3409-01COSM699046c.3072G>Ap.P1024PSubstitution - coding silent14:93242600-93242600-
SW48COSM2252246c.2925C>Tp.P975PSubstitution - coding silent14:93242747-93242747-
TCGA-D9-A6E9-06COSM4399485c.2168C>Tp.P723LSubstitution - Missense14:93246240-93246240-
TCGA-DK-A2I4-01COSM3793973c.1193C>Tp.S398LSubstitution - Missense14:93263963-93263963-
CHC892TCOSM4961314c.1466G>Ap.G489DSubstitution - Missense14:93257337-93257337-
TCGA-HF-7132-01COSM2252328c.712C>Tp.R238CSubstitution - Missense14:93294308-93294308-
cSCCP1COSM143478c.1109_1110CC>TTp.A370VSubstitution - Missense14:93293910-93293911-
TCGA-B5-A11Y-01COSM958943c.2523T>Cp.A841ASubstitution - coding silent14:93245885-93245885-
TCGA-BJ-A191-01COSM3370104c.1561C>Gp.R521GSubstitution - Missense14:93257242-93257242-
TCGA-AA-3710-01COSM293511c.173_174insAp.R59fs*14Insertion - Frameshift14:93294846-93294847-
LS411COSM268768c.173delAp.K58fs*44Deletion - Frameshift14:93294847-93294847-
KM12COSM2252245c.2936G>Tp.S979ISubstitution - Missense14:93242736-93242736-
Pat_76_ACOSM3499059c.2899C>Tp.P967SSubstitution - Missense14:93242773-93242773-
TCGA-A6-3810-01COSM291375c.2830G>Tp.D944YSubstitution - Missense14:93242842-93242842-
Pat_58_BCOSM268768c.173delAp.K58fs*44Deletion - Frameshift14:93294847-93294847-
TCGA-EB-A3Y7-01COSM3499068c.1231C>Tp.H411YSubstitution - Missense14:93263925-93263925-
TCGA-HU-A4GN-01COSM4053108c.1596C>Tp.V532VSubstitution - coding silent14:93257207-93257207-
TCGA-D8-A147-01COSM433507c.2995C>Tp.P999SSubstitution - Missense14:93242677-93242677-
Pat_14_BCOSM5848748c.2819A>Gp.Q940RSubstitution - Missense14:93242853-93242853-
Pat_63_ACOSM1371648c.1697delAp.N566fs*22Deletion - Frameshift14:93253702-93253702-
CSCC-27-TCOSM4471394c.1717C>Tp.P573SSubstitution - Missense14:93253682-93253682-
BN28TCOSM1608076c.2049T>Cp.T683TSubstitution - coding silent14:93248548-93248548-
TCGA-24-2288-01COSM118243c.2889C>Tp.R963RSubstitution - coding silent14:93242783-93242783-
C135COSM4617555c.2770C>Tp.R924WSubstitution - Missense14:93242902-93242902-
ESCC_114COSM5639657c.2122-1G>Tp.?Unknown14:93246287-93246287-
TCGA-D1-A16N-01COSM958952c.1322A>Gp.E441GSubstitution - Missense14:93263834-93263834-
TCGA-DK-A3IK-01COSM1300915c.2572G>Ap.E858KSubstitution - Missense14:93245836-93245836-
TCGA-AP-A059-01COSM958947c.1795C>Tp.R599CSubstitution - Missense14:93251610-93251610-
TCGA-A8-A09Z-01COSM3815560c.3331G>Ap.D1111NSubstitution - Missense14:93242341-93242341-
CSCC-30-TCOSM4456706c.1019C>Tp.S340FSubstitution - Missense14:93294001-93294001-
PT42COSM5925776c.1280G>Tp.C427FSubstitution - Missense14:93263876-93263876-
S02255COSM5680504c.2120A>Tp.Q707LSubstitution - Missense14:93248477-93248477-
TCGA-DK-A1A6-01COSM1300918c.970T>Cp.Y324HSubstitution - Missense14:93294050-93294050-
S02274COSM5682410c.1140G>Cp.L380FSubstitution - Missense14:93293880-93293880-
TCGA-D1-A103-01COSM958960c.481G>Ap.A161TSubstitution - Missense14:93294539-93294539-
TCGA-EE-A2GT-06COSM3499061c.2525C>Tp.A842VSubstitution - Missense14:93245883-93245883-
TCGA-66-2788-01COSM699042c.110A>Gp.Y37CSubstitution - Missense14:93294910-93294910-
TCGA-EI-6917-01COSM279216c.2071C>Tp.R691*Substitution - Nonsense14:93248526-93248526-
CHC892TCOSM4961314c.1466G>Ap.G489DSubstitution - Missense14:93257337-93257337-
TCGA-H4-A2HQ-01COSM1300917c.1765G>Ap.E589KSubstitution - Missense14:93251640-93251640-
YULETACOSM3499067c.1292C>Tp.S431FSubstitution - Missense14:93263864-93263864-
254891COSM3724786c.1582A>Cp.I528LSubstitution - Missense14:93257221-93257221-
2492729COSM5727287c.2727C>Tp.P909PSubstitution - coding silent14:93242945-93242945-
18COSM2252328c.712C>Tp.R238CSubstitution - Missense14:93294308-93294308-
KM12COSM2252255c.2628G>Ap.V876VSubstitution - coding silent14:93243044-93243044-
TCGA-66-2788-01COSM699044c.1403T>Cp.I468TSubstitution - Missense14:93261646-93261646-
TCGA-D3-A1Q8-06COSM3499064c.1559T>Cp.V520ASubstitution - Missense14:93257244-93257244-
YUNACKCOSM1707743c.3262_3263GG>AAp.G1088NSubstitution - Missense14:93242409-93242410-
TCGA-BS-A0UJ-01COSM958939c.3320_3321insTp.L1107fs*>27Insertion - Frameshift14:93242351-93242352-
T368COSM4666350c.2372G>Ap.R791HSubstitution - Missense14:93246036-93246036-
LUAD-B02515COSM336042c.1180G>Tp.A394SSubstitution - Missense14:93263976-93263976-
HX13TCOSM1608075c.3003_3004insAp.Q1002fs*5Insertion - Frameshift14:93242668-93242669-
TCGA-AA-A010-01COSM198424c.1307C>Tp.S436LSubstitution - Missense14:93263849-93263849-
TCGA-B5-A11H-01COSM958944c.2044G>Ap.A682TSubstitution - Missense14:93248553-93248553-
587338COSM1185038c.2000C>Tp.T667MSubstitution - Missense14:93248597-93248597-
TCGA-EE-A2GM-06COSM3420108c.865C>Tp.R289*Substitution - Nonsense14:93294155-93294155-
TCGA-D3-A3C8-06COSM3499059c.2899C>Tp.P967SSubstitution - Missense14:93242773-93242773-
TCGA-EE-A2MT-06COSM3499065c.1544C>Tp.S515FSubstitution - Missense14:93257259-93257259-
TCGA-BR-4361-01COSM4053111c.902A>Gp.E301GSubstitution - Missense14:93294118-93294118-
430COSM4433349c.2276C>Gp.P759RSubstitution - Missense14:93246132-93246132-
cSCCP2COSM137619c.3035C>Tp.S1012FSubstitution - Missense14:93242637-93242637-
ESO-536COSM1246300c.3026A>Gp.Y1009CSubstitution - Missense14:93242646-93242646-
tumor_4136702COSM5948099c.1372-3T>Cp.?Unknown14:93261680-93261680-
HCT8COSM4633950c.3231A>Gp.A1077ASubstitution - coding silent14:93242441-93242441-
S01170COSM5667045c.314A>Gp.Y105CSubstitution - Missense14:93294706-93294706-
Pat_06_ACOSM1371648c.1697delAp.N566fs*22Deletion - Frameshift14:93253702-93253702-
SNU-175COSM2252261c.2473C>Tp.P825SSubstitution - Missense14:93245935-93245935-
HN_62318COSM126573c.259C>Tp.R87*Substitution - Nonsense14:93294761-93294761-
MAVER-1COSM1740071c.982A>Gp.I328VSubstitution - Missense14:93294038-93294038-
8047807COSM3386737c.828C>Tp.A276ASubstitution - coding silent14:93294192-93294192-
SH-0622COSM1371648c.1697delAp.N566fs*22Deletion - Frameshift14:93253702-93253702-
PT49COSM5936048c.2437C>Tp.P813SSubstitution - Missense14:93245971-93245971-
J9_TCOSM3956301c.260G>Tp.R87LSubstitution - Missense14:93294760-93294760-
TCGA-HU-A4H4-01COSM4053106c.1853C>Tp.A618VSubstitution - Missense14:93251552-93251552-
T2578COSM4666351c.2124T>Gp.N708KSubstitution - Missense14:93246284-93246284-
PTC-14CCOSM4148313c.2919T>Cp.F973FSubstitution - coding silent14:93242753-93242753-
TCGA-CC-A7IF-01COSM4915482c.1703G>Ap.G568DSubstitution - Missense14:93253696-93253696-
PCA78-1COSM2252324c.747C>Tp.V249VSubstitution - coding silent14:93294273-93294273-
TCGA-AO-A03M-01COSM3815561c.2846C>Gp.S949*Substitution - Nonsense14:93242826-93242826-
TCGA-EE-A2MR-06COSM3499060c.2622C>Tp.I874ISubstitution - coding silent14:93243050-93243050-
06-P2007COSM4578071c.2866T>Cp.S956PSubstitution - Missense14:93242806-93242806-
C391COSM4441632c.1842G>Ap.M614ISubstitution - Missense14:93251563-93251563-
PT55COSM3420108c.865C>Tp.R289*Substitution - Nonsense14:93294155-93294155-
DLD1COSM2252242c.3008A>Gp.E1003GSubstitution - Missense14:93242664-93242664-
Pat_45_BCOSM5848751c.1893delCp.S632fs*11Deletion - Frameshift14:93251512-93251512-
ME011TCOSM224473c.2711C>Gp.A904GSubstitution - Missense14:93242961-93242961-
ME009TCOSM223723c.3314C>Tp.T1105ISubstitution - Missense14:93242358-93242358-
RMS111_COSM4987324c.2041G>Ap.G681SSubstitution - Missense14:93248556-93248556-
TCGA-HU-8602-01COSM4053104c.2530A>Gp.T844ASubstitution - Missense14:93245878-93245878-
TCGA-AP-A056-01COSM958966c.228T>Gp.S76SSubstitution - coding silent14:93294792-93294792-
ME011TCOSM224471c.3049C>Gp.L1017VSubstitution - Missense14:93242623-93242623-
CSCC-20-TCOSM4505540c.695C>Tp.S232FSubstitution - Missense14:93294325-93294325-
S02328COSM5691868c.2481T>Ap.C827*Substitution - Nonsense14:93245927-93245927-
T2969COSM4666355c.791G>Ap.G264DSubstitution - Missense14:93294229-93294229-
LUAD-S01345COSM396915c.1529G>Cp.R510TSubstitution - Missense14:93257274-93257274-
SW837COSM2252238c.3157C>Tp.H1053YSubstitution - Missense14:93242515-93242515-
TCGA-IR-A3LK-01COSM4817583c.1765G>Cp.E589QSubstitution - Missense14:93251640-93251640-
2492711COSM5606358c.2317C>Tp.H773YSubstitution - Missense14:93246091-93246091-
TCGA-D1-A17A-01COSM958953c.1176C>Ap.I392ISubstitution - coding silent14:93263980-93263980-
TCGA-AP-A0LM-01COSM958962c.469C>Tp.R157CSubstitution - Missense14:93294551-93294551-
TCGA-HJ-7597-01COSM4053105c.1855G>Ap.V619MSubstitution - Missense14:93251550-93251550-
YURTHECOSM1707742c.3392C>Tp.A1131VSubstitution - Missense14:93242280-93242280-
TCGA-FV-A3R2-01COSM4929339c.1707C>Ap.I569ISubstitution - coding silent14:93253692-93253692-
TCGA-D3-A2J8-06COSM3499066c.1389C>Tp.I463ISubstitution - coding silent14:93261660-93261660-
BD124TCOSM268768c.173delAp.K58fs*44Deletion - Frameshift14:93294847-93294847-
TCGA-CJ-4873-01COSM3361281c.232A>Gp.R78GSubstitution - Missense14:93294788-93294788-
ME011TCOSM224475c.455G>Ap.C152YSubstitution - Missense14:93294565-93294565-
TCGA-Q1-A73O-01COSM4834903c.921G>Cp.L307FSubstitution - Missense14:93294099-93294099-
ESCC_BICR_060TCOSM5434901c.3189C>Tp.D1063DSubstitution - coding silent14:93242483-93242483-
TCGA-EJ-A65F-01COSM4876754c.2985T>Ap.G995GSubstitution - coding silent14:93242687-93242687-
8062306COSM84264c.2937C>Gp.S979RSubstitution - Missense14:93242735-93242735-
TCGA-D3-A1Q8-06COSM3499062c.2192G>Ap.G731ESubstitution - Missense14:93246216-93246216-
430COSM4433350c.2275C>Ap.P759TSubstitution - Missense14:93246133-93246133-
TCGA-CJ-4900-01COSM1493348c.17C>Gp.S6CSubstitution - Missense14:93296035-93296035-
TCGA-G4-6626-01COSM1371651c.742G>Cp.D248HSubstitution - Missense14:93294278-93294278-
STC232COSM4053107c.1833G>Ap.T611TSubstitution - coding silent14:93251572-93251572-
TCGA-HU-A4H8-01COSM4053115c.376C>Tp.R126WSubstitution - Missense14:93294644-93294644-
TCGA-AA-3715-01COSM268768c.173delAp.K58fs*44Deletion - Frameshift14:93294847-93294847-
TCGA-HU-A4GU-01COSM2252328c.712C>Tp.R238CSubstitution - Missense14:93294308-93294308-
pfg127TCOSM4758882c.1258C>Tp.R420*Substitution - Nonsense14:93263898-93263898-
4_PRE-TREATMENTCOSM293511c.173_174insAp.R59fs*14Insertion - Frameshift14:93294846-93294847-
TCGA-D1-A17Q-01COSM958949c.1728C>Ap.F576LSubstitution - Missense14:93253671-93253671-
TCGA-DA-A1I1-06COSM3499067c.1292C>Tp.S431FSubstitution - Missense14:93263864-93263864-
TCGA-BR-4184-01COSM4053103c.3045G>Ap.G1015GSubstitution - coding silent14:93242627-93242627-
TCGA-A6-6780-01COSM1371643c.3194C>Tp.T1065ISubstitution - Missense14:93242478-93242478-
TCGA-BS-A0TC-01COSM958956c.946G>Tp.D316YSubstitution - Missense14:93294074-93294074-
587234COSM1185038c.2000C>Tp.T667MSubstitution - Missense14:93248597-93248597-
TCGA-AA-A00E-01COSM298275c.53_54insGp.N19fs*27Insertion - Frameshift14:93295998-93295999-
ESCC_35COSM5628609c.1174A>Gp.I392VSubstitution - Missense14:93263982-93263982-
HT115COSM279216c.2071C>Tp.R691*Substitution - Nonsense14:93248526-93248526-
LIM1899COSM4639990c.3070C>Tp.P1024SSubstitution - Missense14:93242602-93242602-
CSCC-7-TCOSM4487601c.3209C>Tp.P1070LSubstitution - Missense14:93242463-93242463-
TCGA-BP-4960-01COSM470358c.2827C>Gp.P943ASubstitution - Missense14:93242845-93242845-
2492714COSM5606358c.2317C>Tp.H773YSubstitution - Missense14:93246091-93246091-
TCGA-BR-8487-01COSM4053107c.1833G>Ap.T611TSubstitution - coding silent14:93251572-93251572-
TCGA-AM-5820-01COSM5157646c.1318delTp.Y440fs*28Deletion - Frameshift14:93263838-93263838-
ME011TCOSM224472c.2864C>Gp.P955RSubstitution - Missense14:93242808-93242808-
TCGA-B5-A0K9-01COSM958942c.2623G>Ap.A875TSubstitution - Missense14:93243049-93243049-
B52COSM1749025c.244C>Gp.H82DSubstitution - Missense14:93294776-93294776-
TCGA-12-0691COSM2153994c.139G>Tp.D47YSubstitution - Missense14:93294881-93294881-
TCGA-AP-A059-01COSM958946c.1916C>Ap.P639HSubstitution - Missense14:93251489-93251489-
ESO-169COSM1246299c.2201G>Ap.R734HSubstitution - Missense14:93246207-93246207-
PAPNNXCOSM5004618c.713G>Ap.R238HSubstitution - Missense14:93294307-93294307-
TCGA-CM-6675-01COSM1371649c.1075G>Tp.A359SSubstitution - Missense14:93293945-93293945-
C0054TCOSM4150884c.886A>Gp.I296VSubstitution - Missense14:93294134-93294134-
TCGA-EE-A2MI-06COSM3499063c.1732C>Tp.P578SSubstitution - Missense14:93253667-93253667-
RK135_C01COSM3744484c.2072G>Tp.R691LSubstitution - Missense14:93248525-93248525-
CHEWS031COSM4578073c.1083G>Tp.K361NSubstitution - Missense14:93293937-93293937-
PDA_004COSM4997901c.3259T>Gp.S1087ASubstitution - Missense14:93242413-93242413-
PT23_1COSM5903066c.2386C>Tp.P796SSubstitution - Missense14:93246022-93246022-
T3064COSM4666353c.1072G>Ap.V358ISubstitution - Missense14:93293948-93293948-
TCGA-B5-A11E-01COSM958958c.850C>Tp.R284WSubstitution - Missense14:93294170-93294170-
TCGA-F4-6856-01COSM1371646c.2303delCp.P768fs*53Deletion - Frameshift14:93246105-93246105-
587376COSM1185039c.2918T>Gp.F973CSubstitution - Missense14:93242754-93242754-
2492712COSM5606358c.2317C>Tp.H773YSubstitution - Missense14:93246091-93246091-
08-P462COSM4578072c.2454G>Ap.P818PSubstitution - coding silent14:93245954-93245954-
TCGA-BS-A0UJ-01COSM958941c.2715A>Gp.G905GSubstitution - coding silent14:93242957-93242957-
Pat_31_ACOSM1371648c.1697delAp.N566fs*22Deletion - Frameshift14:93253702-93253702-
ME011TCOSM224474c.2143G>Cp.D715HSubstitution - Missense14:93246265-93246265-
CSCC-35-TCOSM4551795c.540G>Ap.E180ESubstitution - coding silent14:93294480-93294480-
TCGA-FS-A4F8-06COSM3499069c.1229C>Tp.S410FSubstitution - Missense14:93263927-93263927-
ESCC_BICR_042TCOSM5443661c.387G>Ap.Q129QSubstitution - coding silent14:93294633-93294633-
ESO-931COSM1246301c.2714G>Tp.G905VSubstitution - Missense14:93242958-93242958-
Pat_02_BCOSM3499069c.1229C>Tp.S410FSubstitution - Missense14:93263927-93263927-
Pat_11_BCOSM268768c.173delAp.K58fs*44Deletion - Frameshift14:93294847-93294847-
5COSM4333418c.2957G>Ap.S986NSubstitution - Missense14:93242715-93242715-
CSCC-55-TCOSM4486236c.3028C>Tp.P1010SSubstitution - Missense14:93242644-93242644-
NB-0433COSM1283692c.3133G>Tp.E1045*Substitution - Nonsense14:93242539-93242539-
TCGA-EB-A4IS-01COSM3499072c.657C>Tp.I219ISubstitution - coding silent14:93294363-93294363-
BN28COSM1608076c.2049T>Cp.T683TSubstitution - coding silent14:93248548-93248548-
EGC3COSM5054163c.240C>Tp.A80ASubstitution - coding silent14:93294780-93294780-
BD72TCOSM5513056c.3368C>Tp.P1123LSubstitution - Missense14:93242304-93242304-
TCGA-AP-A0LM-01COSM958954c.953C>Tp.S318FSubstitution - Missense14:93294067-93294067-
TCGA-HE-7128-01COSM3987833c.1316T>Gp.F439CSubstitution - Missense14:93263840-93263840-
pfg068TCOSM268768c.173delAp.K58fs*44Deletion - Frameshift14:93294847-93294847-
TCGA-D1-A16X-01COSM958964c.448G>Tp.E150*Substitution - Nonsense14:93294572-93294572-
PT46COSM5929517c.1522G>Ap.E508KSubstitution - Missense14:93257281-93257281-
HCC27TCOSM279216c.2071C>Tp.R691*Substitution - Nonsense14:93248526-93248526-
Au8COSM5606358c.2317C>Tp.H773YSubstitution - Missense14:93246091-93246091-
MM1SCOSM1235554c.151G>Ap.E51KSubstitution - Missense14:93294869-93294869-
TCGA-EE-A2GC-06COSM3499070c.856C>Tp.P286SSubstitution - Missense14:93294164-93294164-
sysucc-311TCOSM5478790c.377G>Ap.R126QSubstitution - Missense14:93294643-93294643-
TCGA-D8-A1XK-01COSM268768c.173delAp.K58fs*44Deletion - Frameshift14:93294847-93294847-
sysucc-1247TCOSM5764713c.2136C>Tp.F712FSubstitution - coding silent14:93246272-93246272-
TCGA-EI-6917-01COSM3420108c.865C>Tp.R289*Substitution - Nonsense14:93294155-93294155-
TCGA-EE-A29D-06COSM3499057c.3119C>Tp.P1040LSubstitution - Missense14:93242553-93242553-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.52554914q32.12610386
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACSynonymousp.G995Gc.2985T>G1493709033CM
A-Frameshiftp.R289Efs*19c.864delT1493760502STAD
AGMissensep.I468Tc.1403T>C1493727992LUSC
AGMissensep.V520Ac.1559T>C1493723590CM
AGMissensep.Y324Hc.970T>C1493760396BLCA
AGMissensep.Y324Hc.970T>C1493760396HNSC
AGSynonymousp.A841Ac.2523T>C1493712231UCEC
ATSynonymousp.G995Gc.2985T>A1493709033PRAD
CAMissensep.A121Sc.361G>T1493761005RCCC
CAMissensep.D316Yc.946G>T1493760420UCEC
CAMissensep.D885Yc.2653G>T1493709365LUAD
CAMissensep.D944Yc.2830G>T1493709188COREAD
CAMissensep.G905Vc.2714G>T1493709304ESCA
CAMissensep.R521Lc.1562G>T1493723587LUAD
CANonsensep.E1045*c.3133G>T1493708885NB
CASynonymousp.R502Rc.1506G>T1493723643LUAD
CGMissensep.D715Hc.2143G>C1493712611CM
CGMissensep.E395Qc.1183G>C1493730319HNSC
CGMissensep.S979Rc.2937C>G1493709081PAAD
CTIntronicSNV.c.2584-942G>A1493710376CM
CTMissensep.A682Tc.2044G>A1493714899UCEC
CTMissensep.A875Tc.2623G>A1493709395UCEC
CTMissensep.C152Yc.455G>A1493760911CM
CTMissensep.E589Kc.1765G>A1493717986BLCA
CTMissensep.E858Kc.2572G>A1493712182BLCA
CTMissensep.G2Dc.5G>A1493762393CM
CTMissensep.G731Ec.2192G>A1493712562CM
CTSynonymousp.S968Sc.2904G>A1493709114UCEC
GA3-UTRSNV.c.3396+1853C>T1493706769HC
GA5-UTRSNV.c.1-80C>T1493762477CM
GAIntronicSNV.c.1608+45C>T1493723496CM
GAMissensep.A842Vc.2525C>T1493712229CM
GAMissensep.P286Sc.856C>T1493760510CM
GAMissensep.P578Sc.1732C>T1493720013CM
GAMissensep.P649Sc.1945C>T1493714998CM
GAMissensep.P967Sc.2899C>T1493709119CM
GAMissensep.P999Sc.2995C>T1493709023BRCA
GAMissensep.R572Cc.1714C>T1493720031UCEC
GAMissensep.R599Cc.1795C>T1493717956HNSC
GAMissensep.S398Lc.1193C>T1493730309BLCA
GAMissensep.S398Lc.1193C>T1493730309CM
GAMissensep.S431Fc.1292C>T1493730210CM
GAMissensep.S515Fc.1544C>T1493723605CM
GAMissensep.T1105Ic.3314C>T1493708704CM
GANonsensep.R289*c.865C>T1493760501CM
GANonsensep.R87*c.259C>T1493761107HNSC
GASynonymousp.I463Ic.1389C>T1493728006CM
GASynonymousp.L960Lc.2880C>T1493709138HNSC
GASynonymousp.R963Rc.2889C>T1493709129OV
GCMissensep.A904Gc.2711C>G1493709307CM
GCMissensep.L1017Vc.3049C>G1493708969CM
GCMissensep.L587Vc.1759C>G1493717992BRCA
GCMissensep.P943Ac.2827C>G1493709191RCCC
GCMissensep.P955Rc.2864C>G1493709154CM
GCMissensep.Q689Ec.2065C>G1493714878BLCA
GCMissensep.R521Gc.1561C>G1493723588THCA
TCIntronicSNV.c.1162+5224A>G1493754980RCCC
TCMissensep.H1016Rc.3047A>G1493708971CM
TCMissensep.M602Vc.1804A>G1493717947STAD
TCMissensep.N634Sc.1901A>G1493717850THCA
TCMissensep.R78Gc.232A>G1493761134RCCC
TCMissensep.Y1009Cc.3026A>G1493708992ESCA
TCMissensep.Y37Cc.110A>G1493761256LUSC
TCSynonymousp.A110Ac.330A>G1493761036LUAD
T-Frameshiftp.K58Rfs*44c.173delA1493761193PRAD
T-Frameshiftp.N566Mfs*22c.1697delA1493720048PRAD
TGIntronicSNV.c.1162+5194A>C1493755010HC
TGMissensep.K496Qc.1486A>C1493723663HNSC
TGMissensep.S488Rc.1462A>C1493723687BRCA
TGMissensep.T964Pc.2890A>C1493709128LUAD