Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 17 80422187 80422187 + Missense_Mutation SNP G G A TCGA-ZF-A9R9-01A-11D-A38G-08 TCGA-ZF-A9R9-10A-01D-A38J-08 g.chr17:80422187G>A c.133G>A c.(133-135)Gat>Aat p.D45N BLCA 17 80422294 80422294 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr17:80422294G>A c.240G>A c.(238-240)ctG>ctA p.L80L BLCA 17 80426645 80426645 + Missense_Mutation SNP T T G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:80426645T>G c.258T>G c.(256-258)tgT>tgG p.C86W BLCA 17 80426772 80426772 + Splice_Site SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr17:80426772G>C c.385G>C c.(385-387)Ggg>Cgg p.G129R BLCA 17 80439027 80439027 + Nonsense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr17:80439027C>T c.709C>T c.(709-711)Cag>Tag p.Q237* BLCA 17 80439087 80439087 + Splice_Site SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr17:80439087G>A c.769G>A c.(769-771)Ggt>Agt p.G257S BLCA 17 80445998 80445998 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:80445998G>C c.1336G>C c.(1336-1338)Gag>Cag p.E446Q BRCA 17 80422247 80422247 + Missense_Mutation SNP G G A TCGA-C8-A1HO-01A-11D-A13L-09 TCGA-C8-A1HO-10A-01D-A188-09 g.chr17:80422247G>A c.193G>A c.(193-195)Gga>Aga p.G65R BRCA 17 80430544 80430544 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr17:80430544A>C c.490A>C c.(490-492)Acc>Ccc p.T164P BRCA 17 80441594 80441594 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr17:80441594G>A c.772G>A c.(772-774)Gaa>Aaa p.E258K BRCA 17 80441612 80441612 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr17:80441612G>A c.790G>A c.(790-792)Gag>Aag p.E264K CESC 17 80445795 80445795 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr17:80445795G>A c.1133G>A c.(1132-1134)tGc>tAc p.C378Y CHOL 17 80443387 80443387 + Missense_Mutation SNP A A G TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr17:80443387A>G c.986A>G c.(985-987)cAa>cGa p.Q329R COAD 17 80422207 80422207 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:80422207C>T c.153C>T c.(151-153)agC>agT p.S51S COAD 17 80422301 80422301 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:80422301A>G c.247A>G c.(247-249)Aac>Gac p.N83D COAD 17 80426678 80426678 + Silent SNP T T G TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:80426678T>G c.291T>G c.(289-291)tcT>tcG p.S97S COAD 17 80426742 80426742 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:80426742A>G c.355A>G c.(355-357)Aga>Gga p.R119G COAD 17 80430462 80430462 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:80430462G>A c.408G>A c.(406-408)acG>acA p.T136T COAD 17 80430468 80430468 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:80430468A>G c.414A>G c.(412-414)atA>atG p.I138M COAD 17 80430511 80430511 + Missense_Mutation SNP C C T TCGA-AA-3521-01A-01W-0831-10 TCGA-AA-3521-10A-01W-0831-10 g.chr17:80430511C>T c.457C>T c.(457-459)Cgt>Tgt p.R153C COAD 17 80439039 80439039 + Frame_Shift_Del DEL C C - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr17:80439039delC c.721delC c.(721-723)cccfs p.P242fs COAD 17 80443410 80443410 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr17:80443410G>A c.1009G>A c.(1009-1011)Gga>Aga p.G337R COADREAD 17 80422207 80422207 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:80422207C>T c.153C>T c.(151-153)agC>agT p.S51S COADREAD 17 80422268 80422268 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:80422268A>C c.214A>C c.(214-216)Aat>Cat p.N72H COADREAD 17 80422301 80422301 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:80422301A>G c.247A>G c.(247-249)Aac>Gac p.N83D COADREAD 17 80426678 80426678 + Silent SNP T T G TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:80426678T>G c.291T>G c.(289-291)tcT>tcG p.S97S COADREAD 17 80426742 80426742 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:80426742A>G c.355A>G c.(355-357)Aga>Gga p.R119G COADREAD 17 80430462 80430462 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:80430462G>A c.408G>A c.(406-408)acG>acA p.T136T COADREAD 17 80430468 80430468 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:80430468A>G c.414A>G c.(412-414)atA>atG p.I138M COADREAD 17 80430511 80430511 + Missense_Mutation SNP C C T TCGA-AA-3521-01A-01W-0831-10 TCGA-AA-3521-10A-01W-0831-10 g.chr17:80430511C>T c.457C>T c.(457-459)Cgt>Tgt p.R153C COADREAD 17 80439039 80439039 + Frame_Shift_Del DEL C C - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr17:80439039delC c.721delC c.(721-723)cccfs p.P242fs COADREAD 17 80441626 80441626 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:80441626C>A c.804C>A c.(802-804)ctC>ctA p.L268L COADREAD 17 80443410 80443410 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr17:80443410G>A c.1009G>A c.(1009-1011)Gga>Aga p.G337R COADREAD 17 80446002 80446002 + Missense_Mutation SNP G G A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr17:80446002G>A c.1340G>A c.(1339-1341)cGt>cAt p.R447H ESCA 17 80417920 80417920 + Missense_Mutation SNP C C T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 g.chr17:80417920C>T c.80C>T c.(79-81)gCa>gTa p.A27V ESCA 17 80439050 80439050 + Missense_Mutation SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr17:80439050G>T c.732G>T c.(730-732)ttG>ttT p.L244F ESCA 17 80442792 80442792 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr17:80442792G>A c.937G>A c.(937-939)Gag>Aag p.E313K ESCA 17 80442801 80442801 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr17:80442801G>A c.946G>A c.(946-948)Gag>Aag p.E316K ESCA 17 80443380 80443380 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr17:80443380G>C c.979G>C c.(979-981)Gac>Cac p.D327H ESCA 17 80443401 80443401 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr17:80443401G>C c.1000G>C c.(1000-1002)Gag>Cag p.E334Q ESCA 17 80445912 80445912 + Missense_Mutation SNP A A T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 g.chr17:80445912A>T c.1250A>T c.(1249-1251)cAc>cTc p.H417L HNSC 17 80439061 80439061 + Missense_Mutation SNP G G A TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr17:80439061G>A c.743G>A c.(742-744)cGg>cAg p.R248Q HNSC 17 80442792 80442792 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr17:80442792G>C c.937G>C c.(937-939)Gag>Cag p.E313Q KIPAN 17 80430448 80430448 + Missense_Mutation SNP T T A TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr17:80430448T>A c.394T>A c.(394-396)Tat>Aat p.Y132N KIPAN 17 80436689 80436689 + Silent SNP C C T TCGA-CJ-4641-01A-02D-1386-10 TCGA-CJ-4641-11A-01D-1251-10 g.chr17:80436689C>T c.534C>T c.(532-534)taC>taT p.Y178Y KIPAN 17 80443450 80443450 + Missense_Mutation SNP G G A TCGA-A4-7997-01A-11D-2201-08 TCGA-A4-7997-10A-01D-2201-08 g.chr17:80443450G>A c.1049G>A c.(1048-1050)cGa>cAa p.R350Q KIPAN 17 80443460 80443460 + Missense_Mutation SNP G G T TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr17:80443460G>T c.1059G>T c.(1057-1059)caG>caT p.Q353H KIPAN 17 80443514 80443514 + Silent SNP C C T TCGA-A4-8311-01A-11D-2396-08 TCGA-A4-8311-10A-01D-2396-08 g.chr17:80443514C>T c.1113C>T c.(1111-1113)gtC>gtT p.V371V KIRC 17 80430448 80430448 + Missense_Mutation SNP T T A TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr17:80430448T>A c.394T>A c.(394-396)Tat>Aat p.Y132N KIRC 17 80436689 80436689 + Silent SNP C C T TCGA-CJ-4641-01A-02D-1386-10 TCGA-CJ-4641-11A-01D-1251-10 g.chr17:80436689C>T c.534C>T c.(532-534)taC>taT p.Y178Y KIRC 17 80443460 80443460 + Missense_Mutation SNP G G T TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr17:80443460G>T c.1059G>T c.(1057-1059)caG>caT p.Q353H KIRP 17 80443450 80443450 + Missense_Mutation SNP G G A TCGA-A4-7997-01A-11D-2201-08 TCGA-A4-7997-10A-01D-2201-08 g.chr17:80443450G>A c.1049G>A c.(1048-1050)cGa>cAa p.R350Q KIRP 17 80443514 80443514 + Silent SNP C C T TCGA-A4-8311-01A-11D-2396-08 TCGA-A4-8311-10A-01D-2396-08 g.chr17:80443514C>T c.1113C>T c.(1111-1113)gtC>gtT p.V371V LUAD 17 80417920 80417920 + Missense_Mutation SNP C C T TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr17:80417920C>T c.80C>T c.(79-81)gCa>gTa p.A27V LUAD 17 80436675 80436675 + Splice_Site SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr17:80436675G>T c.e6-1 LUAD 17 80436742 80436742 + Missense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr17:80436742C>T c.587C>T c.(586-588)tCc>tTc p.S196F LUAD 17 80439066 80439066 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr17:80439066G>T c.748G>T c.(748-750)Gct>Tct p.A250S LUAD 17 80445829 80445829 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr17:80445829C>A c.1167C>A c.(1165-1167)gaC>gaA p.D389E LUAD 17 80445933 80445933 + Missense_Mutation SNP A A C TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr17:80445933A>C c.1271A>C c.(1270-1272)gAg>gCg p.E424A LUSC 17 80417879 80417879 + Missense_Mutation SNP G G T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 g.chr17:80417879G>T c.39G>T c.(37-39)aaG>aaT p.K13N LUSC 17 80442724 80442724 + Missense_Mutation SNP A A G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr17:80442724A>G c.869A>G c.(868-870)cAt>cGt p.H290R LUSC 17 80445995 80445995 + Missense_Mutation SNP C C A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr17:80445995C>A c.1333C>A c.(1333-1335)Cag>Aag p.Q445K OV 17 80443501 80443501 + Missense_Mutation SNP A A C TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 g.chr17:80443501A>C c.1100A>C c.(1099-1101)cAc>cCc p.H367P OV 17 80445993 80445994 + Frame_Shift_Ins INS - - GA TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 g.chr17:80445993_80445994insGA c.1331_1332insGA c.(1330-1335)agccagfs p.SQ444fs PRAD 17 80417915 80417915 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:80417915C>T c.75C>T c.(73-75)gcC>gcT p.A25A PRAD 17 80417933 80417933 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:80417933C>T c.93C>T c.(91-93)gcC>gcT p.A31A PRAD 17 80439021 80439021 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:80439021G>A c.703G>A c.(703-705)Gct>Act p.A235T READ 17 80422268 80422268 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:80422268A>C c.214A>C c.(214-216)Aat>Cat p.N72H READ 17 80441626 80441626 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:80441626C>A c.804C>A c.(802-804)ctC>ctA p.L268L READ 17 80446002 80446002 + Missense_Mutation SNP G G A TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr17:80446002G>A c.1340G>A c.(1339-1341)cGt>cAt p.R447H SKCM 17 80422298 80422298 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr17:80422298C>T c.244C>T c.(244-246)Ctt>Ttt p.L82F SKCM 17 80430571 80430571 + Missense_Mutation SNP C C G TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr17:80430571C>G c.517C>G c.(517-519)Cct>Gct p.P173A SKCM 17 80430572 80430572 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chr17:80430572C>T c.518C>T c.(517-519)cCt>cTt p.P173L SKCM 17 80436763 80436763 + Frame_Shift_Del DEL C C - TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr17:80436763delC c.608delC c.(607-609)tctfs p.S203fs SKCM 17 80436782 80436782 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr17:80436782C>T c.627C>T c.(625-627)ttC>ttT p.F209F SKCM 17 80442739 80442739 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr17:80442739C>T c.884C>T c.(883-885)tCa>tTa p.S295L SKCM 17 80445839 80445839 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:80445839G>A c.1177G>A c.(1177-1179)Gat>Aat p.D393N SKCM 17 80445854 80445854 + Missense_Mutation SNP C C T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr17:80445854C>T c.1192C>T c.(1192-1194)Cgg>Tgg p.R398W BLCA 18 29693775 29693775 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr18:29693775C>G c.344C>G c.(343-345)tCt>tGt p.S115C BLCA 18 29693775 29693775 + Missense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr18:29693775C>T c.344C>T c.(343-345)tCt>tTt p.S115F BLCA 18 29704794 29704794 + Nonsense_Mutation SNP C C T TCGA-GD-A76B-01A-11D-A32B-08 TCGA-GD-A76B-10A-01D-A329-08 g.chr18:29704794C>T c.547C>T c.(547-549)Cag>Tag p.Q183* BRCA 18 29691779 29691779 + Missense_Mutation SNP G G A TCGA-BH-A0AW-01A-11W-A071-09 TCGA-BH-A0AW-10A-01W-A071-09 g.chr18:29691779G>A c.173G>A c.(172-174)cGt>cAt p.R58H BRCA 18 29704794 29704794 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr18:29704794C>G c.547C>G c.(547-549)Cag>Gag p.Q183E CHOL 18 29672848 29672848 + Splice_Site SNP G G T TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr18:29672848G>T c.109G>T c.(109-111)Gtt>Ttt p.V37F COAD 18 29672848 29672848 + Splice_Site SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr18:29672848G>A c.109G>A c.(109-111)Gtt>Att p.V37I COAD 18 29691848 29691848 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:29691848A>C c.242A>C c.(241-243)aAg>aCg p.K81T COAD 18 29693727 29693727 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr18:29693727G>A c.296G>A c.(295-297)aGa>aAa p.R99K COAD 18 29693800 29693800 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:29693800C>A c.369C>A c.(367-369)atC>atA p.I123I COAD 18 29706750 29706750 + Missense_Mutation SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr18:29706750A>G c.656A>G c.(655-657)tAt>tGt p.Y219C COADREAD 18 29672848 29672848 + Splice_Site SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr18:29672848G>A c.109G>A c.(109-111)Gtt>Att p.V37I COADREAD 18 29691848 29691848 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:29691848A>C c.242A>C c.(241-243)aAg>aCg p.K81T COADREAD 18 29693727 29693727 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr18:29693727G>A c.296G>A c.(295-297)aGa>aAa p.R99K COADREAD 18 29693800 29693800 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:29693800C>A c.369C>A c.(367-369)atC>atA p.I123I COADREAD 18 29706750 29706750 + Missense_Mutation SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr18:29706750A>G c.656A>G c.(655-657)tAt>tGt p.Y219C ESCA 18 29704766 29704766 + Silent SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr18:29704766G>T c.519G>T c.(517-519)ctG>ctT p.L173L GBMLGG 18 29691839 29691839 + Missense_Mutation SNP T T C TCGA-WY-A85E-01A-11D-A36O-08 TCGA-WY-A85E-10A-01D-A367-08 g.chr18:29691839T>C c.233T>C c.(232-234)aTa>aCa p.I78T GBMLGG 18 29691857 29691857 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:29691857G>A c.251G>A c.(250-252)gGt>gAt p.G84D HNSC 18 29706662 29706662 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr18:29706662C>T c.568C>T c.(568-570)Cct>Tct p.P190S LGG 18 29691839 29691839 + Missense_Mutation SNP T T C TCGA-WY-A85E-01A-11D-A36O-08 TCGA-WY-A85E-10A-01D-A367-08 g.chr18:29691839T>C c.233T>C c.(232-234)aTa>aCa p.I78T LGG 18 29691857 29691857 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:29691857G>A c.251G>A c.(250-252)gGt>gAt p.G84D LUAD 18 29704800 29704800 + Missense_Mutation SNP G G A TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr18:29704800G>A c.553G>A c.(553-555)Gtt>Att p.V185I LUAD 18 29706662 29706662 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr18:29706662C>A c.568C>A c.(568-570)Cct>Act p.P190T LUAD 18 29706687 29706687 + Missense_Mutation SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr18:29706687G>T c.593G>T c.(592-594)gGa>gTa p.G198V LUAD 18 29709131 29709131 + Missense_Mutation SNP C C G TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr18:29709131C>G c.719C>G c.(718-720)tCt>tGt p.S240C LUSC 18 29693742 29693742 + Missense_Mutation SNP C C G TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr18:29693742C>G c.311C>G c.(310-312)tCt>tGt p.S104C LUSC 18 29703512 29703512 + Missense_Mutation SNP A A G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr18:29703512A>G c.424A>G c.(424-426)Aca>Gca p.T142A OV 18 29709119 29709119 + Missense_Mutation SNP C C T TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 g.chr18:29709119C>T c.707C>T c.(706-708)gCt>gTt p.A236V PRAD 18 29706716 29706716 + Missense_Mutation SNP G G A TCGA-EJ-AB27-01A-11D-A41K-08 TCGA-EJ-AB27-10A-01D-A41N-08 g.chr18:29706716G>A c.622G>A c.(622-624)Gtt>Att p.V208I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 18 29668120 29668120 single base substitution T C upstream_gene_variant BRCA-EU 18 29668978 29668978 single base substitution A C upstream_gene_variant BRCA-EU 18 29670570 29670570 single base substitution C A upstream_gene_variant BRCA-EU 18 29670937 29670937 single base substitution G T upstream_gene_variant BRCA-EU 18 29672969 29672969 single base substitution G A intron_variant BRCA-EU 18 29673789 29673789 single base substitution T C intron_variant BRCA-EU 18 29674498 29674498 single base substitution G A intron_variant BRCA-EU 18 29675851 29675851 single base substitution G A intron_variant BRCA-EU 18 29676532 29676532 single base substitution G T intron_variant BRCA-EU 18 29676705 29676705 deletion of <=200bp T - intron_variant BRCA-EU 18 29678107 29678107 single base substitution G A intron_variant BRCA-EU 18 29680841 29680841 single base substitution C T intron_variant BRCA-EU 18 29683520 29683520 single base substitution G T intron_variant BRCA-EU 18 29684116 29684116 single base substitution A G intron_variant BRCA-EU 18 29684141 29684141 single base substitution G A intron_variant BRCA-EU 18 29684621 29684621 single base substitution C A intron_variant BRCA-EU 18 29684770 29684770 single base substitution T C intron_variant BRCA-EU 18 29685544 29685544 single base substitution C G intron_variant BRCA-EU 18 29686056 29686056 single base substitution C A intron_variant BRCA-EU 18 29687273 29687273 single base substitution G T intron_variant BRCA-EU 18 29688077 29688077 single base substitution C G intron_variant BRCA-EU 18 29688287 29688287 single base substitution C G intron_variant BRCA-EU 18 29688664 29688664 single base substitution C A intron_variant BRCA-EU 18 29688819 29688819 deletion of <=200bp T - intron_variant BRCA-EU 18 29689820 29689820 single base substitution G A downstream_gene_variant BRCA-EU 18 29689820 29689820 single base substitution G A intron_variant BRCA-EU 18 29690868 29690868 single base substitution C T downstream_gene_variant BRCA-EU 18 29690868 29690868 single base substitution C T intron_variant BRCA-EU 18 29692586 29692586 single base substitution G A downstream_gene_variant BRCA-EU 18 29692586 29692586 single base substitution G A intron_variant BRCA-EU 18 29694826 29694826 single base substitution C G downstream_gene_variant BRCA-EU 18 29694826 29694826 single base substitution C G intron_variant BRCA-EU 18 29696245 29696245 single base substitution C A downstream_gene_variant BRCA-EU 18 29696245 29696245 single base substitution C A intron_variant BRCA-EU 18 29697469 29697469 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 29697469 29697469 deletion of <=200bp A - intron_variant BRCA-EU 18 29698049 29698049 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 29698049 29698049 deletion of <=200bp A - intron_variant BRCA-EU 18 29698516 29698516 single base substitution G A downstream_gene_variant BRCA-EU 18 29698516 29698516 single base substitution G A intron_variant BRCA-EU 18 29698516 29698516 single base substitution G A upstream_gene_variant BRCA-EU 18 29698793 29698793 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 29698793 29698793 deletion of <=200bp A - intron_variant BRCA-EU 18 29698793 29698793 deletion of <=200bp A - upstream_gene_variant BRCA-EU 18 29701481 29701481 single base substitution C T intron_variant BRCA-EU 18 29701481 29701481 single base substitution C T upstream_gene_variant BRCA-EU 18 29701545 29701545 single base substitution T G intron_variant BRCA-EU 18 29701545 29701545 single base substitution T G upstream_gene_variant BRCA-EU 18 29703459 29703459 deletion of <=200bp T - intron_variant BRCA-EU 18 29703459 29703459 deletion of <=200bp T - upstream_gene_variant BRCA-EU 18 29703572 29703572 single base substitution T G intron_variant BRCA-EU 18 29703733 29703733 single base substitution A G intron_variant BRCA-EU 18 29706360 29706360 single base substitution G T downstream_gene_variant BRCA-EU 18 29706360 29706360 single base substitution G T intron_variant BRCA-EU 18 29706396 29706396 single base substitution G C downstream_gene_variant BRCA-EU 18 29706396 29706396 single base substitution G C intron_variant BRCA-EU 18 29706546 29706546 single base substitution C G downstream_gene_variant BRCA-EU 18 29706546 29706546 single base substitution C G intron_variant BRCA-EU 18 29707157 29707157 single base substitution C T downstream_gene_variant BRCA-EU 18 29707157 29707157 single base substitution C T intron_variant BRCA-EU 18 29709545 29709545 single base substitution A T 3_prime_UTR_variant BRCA-EU 18 29709545 29709545 single base substitution A T downstream_gene_variant BRCA-EU 18 29710432 29710432 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 29710432 29710432 single base substitution G A downstream_gene_variant BRCA-EU 18 29711305 29711305 single base substitution T G 3_prime_UTR_variant BRCA-EU 18 29711305 29711305 single base substitution T G downstream_gene_variant BRCA-EU 18 29712371 29712371 single base substitution C T downstream_gene_variant BRCA-EU 18 29712941 29712941 insertion of <=200bp - A downstream_gene_variant BRCA-EU 18 29713028 29713028 single base substitution G A downstream_gene_variant BRCA-EU 18 29714127 29714131 deletion of <=200bp TTTTC - downstream_gene_variant BRCA-EU 18 29715228 29715228 single base substitution G C downstream_gene_variant BRCA-EU 18 29715508 29715544 deletion of <=200bp ATAACGACATTTTGGTCGTTGATGGGCCACATATGCA - downstream_gene_variant BRCA-FR 18 29667145 29667145 single base substitution G A upstream_gene_variant BRCA-FR 18 29667214 29667214 single base substitution C T upstream_gene_variant BRCA-FR 18 29670548 29670548 single base substitution C G upstream_gene_variant BRCA-FR 18 29676721 29676721 single base substitution G C intron_variant BRCA-FR 18 29689820 29689820 single base substitution G A downstream_gene_variant BRCA-FR 18 29689820 29689820 single base substitution G A intron_variant BRCA-FR 18 29693534 29693534 single base substitution G C downstream_gene_variant BRCA-FR 18 29693534 29693534 single base substitution G C intron_variant BRCA-FR 18 29710432 29710432 single base substitution G A 3_prime_UTR_variant BRCA-FR 18 29710432 29710432 single base substitution G A downstream_gene_variant BRCA-UK 18 29670570 29670570 single base substitution C A upstream_gene_variant BRCA-UK 18 29684621 29684621 single base substitution C A intron_variant BRCA-UK 18 29688287 29688287 single base substitution C G intron_variant BRCA-UK 18 29698516 29698516 single base substitution G A downstream_gene_variant BRCA-UK 18 29698516 29698516 single base substitution G A intron_variant BRCA-UK 18 29698516 29698516 single base substitution G A upstream_gene_variant BRCA-UK 18 29701560 29701560 single base substitution G T intron_variant BRCA-UK 18 29701560 29701560 single base substitution G T upstream_gene_variant BRCA-US 18 29691779 29691779 single base substitution G A downstream_gene_variant BRCA-US 18 29691779 29691779 single base substitution G A exon_variant BRCA-US 18 29691779 29691779 single base substitution G A intron_variant BRCA-US 18 29691779 29691779 single base substitution G A missense_variant R12H 35G>A BRCA-US 18 29691779 29691779 single base substitution G A missense_variant R58H 173G>A BRCA-US 18 29704794 29704794 single base substitution C G downstream_gene_variant BRCA-US 18 29704794 29704794 single base substitution C G missense_variant Q183E 547C>G BRCA-US 18 29704794 29704794 single base substitution C G missense_variant Q50E 148C>G BRCA-US 18 29704794 29704794 single base substitution C G missense_variant Q89E 265C>G BTCA-JP 18 29691760 29691760 single base substitution G A downstream_gene_variant BTCA-JP 18 29691760 29691760 single base substitution G A exon_variant BTCA-JP 18 29691760 29691760 single base substitution G A intron_variant BTCA-JP 18 29691760 29691760 single base substitution G A missense_variant A52T 154G>A BTCA-JP 18 29691760 29691760 single base substitution G A missense_variant A6T 16G>A COAD-US 18 29691848 29691848 single base substitution A C downstream_gene_variant COAD-US 18 29691848 29691848 single base substitution A C exon_variant COAD-US 18 29691848 29691848 single base substitution A C intron_variant COAD-US 18 29691848 29691848 single base substitution A C missense_variant K35T 104A>C COAD-US 18 29691848 29691848 single base substitution A C missense_variant K81T 242A>C COAD-US 18 29693727 29693727 single base substitution G A downstream_gene_variant COAD-US 18 29693727 29693727 single base substitution G A exon_variant COAD-US 18 29693727 29693727 single base substitution G A intron_variant COAD-US 18 29693727 29693727 single base substitution G A missense_variant R53K 158G>A COAD-US 18 29693727 29693727 single base substitution G A missense_variant R99K 296G>A COAD-US 18 29706750 29706750 single base substitution A G 3_prime_UTR_variant COAD-US 18 29706750 29706750 single base substitution A G downstream_gene_variant COAD-US 18 29706750 29706750 single base substitution A G missense_variant Y125C 374A>G COAD-US 18 29706750 29706750 single base substitution A G missense_variant Y219C 656A>G COCA-CN 18 29704855 29704855 single base substitution C T downstream_gene_variant COCA-CN 18 29704855 29704855 single base substitution C T intron_variant COCA-CN 18 29708986 29708986 single base substitution G T downstream_gene_variant COCA-CN 18 29708986 29708986 single base substitution G T intron_variant EOPC-DE 18 29677022 29677022 single base substitution G A intron_variant EOPC-DE 18 29714021 29714021 single base substitution G T downstream_gene_variant ESAD-UK 18 29666976 29666976 single base substitution C G upstream_gene_variant ESAD-UK 18 29668193 29668193 single base substitution C G upstream_gene_variant ESAD-UK 18 29671544 29671544 single base substitution G A upstream_gene_variant ESAD-UK 18 29672658 29672658 single base substitution T C 5_prime_UTR_variant ESAD-UK 18 29672658 29672658 single base substitution T C exon_variant ESAD-UK 18 29672658 29672658 single base substitution T C intron_variant ESAD-UK 18 29672658 29672658 single base substitution T C splice_region_variant ESAD-UK 18 29672658 29672658 single base substitution T C upstream_gene_variant ESAD-UK 18 29676688 29676693 deletion of <=200bp TTTTGT - intron_variant ESAD-UK 18 29676705 29676705 insertion of <=200bp - T intron_variant ESAD-UK 18 29676871 29676871 single base substitution T A intron_variant ESAD-UK 18 29682545 29682545 single base substitution T C intron_variant ESAD-UK 18 29684284 29684284 single base substitution T A intron_variant ESAD-UK 18 29691032 29691032 single base substitution C T downstream_gene_variant ESAD-UK 18 29691032 29691032 single base substitution C T intron_variant ESAD-UK 18 29694096 29694096 single base substitution G C downstream_gene_variant ESAD-UK 18 29694096 29694096 single base substitution G C intron_variant ESAD-UK 18 29698964 29698964 single base substitution C G intron_variant ESAD-UK 18 29698964 29698964 single base substitution C G upstream_gene_variant ESAD-UK 18 29700432 29700432 single base substitution A G intron_variant ESAD-UK 18 29700432 29700432 single base substitution A G upstream_gene_variant ESAD-UK 18 29703101 29703101 single base substitution T G intron_variant ESAD-UK 18 29703101 29703101 single base substitution T G upstream_gene_variant ESAD-UK 18 29705692 29705692 single base substitution C T downstream_gene_variant ESAD-UK 18 29705692 29705692 single base substitution C T intron_variant ESAD-UK 18 29710769 29710769 single base substitution T A 3_prime_UTR_variant ESAD-UK 18 29710769 29710769 single base substitution T A downstream_gene_variant ESAD-UK 18 29711111 29711111 single base substitution G A 3_prime_UTR_variant ESAD-UK 18 29711111 29711111 single base substitution G A downstream_gene_variant ESAD-UK 18 29712771 29712771 single base substitution C T downstream_gene_variant ESAD-UK 18 29713874 29713874 single base substitution C T downstream_gene_variant KIRP-US 18 29709106 29709106 single base substitution C A 3_prime_UTR_variant KIRP-US 18 29709106 29709106 single base substitution C A downstream_gene_variant KIRP-US 18 29709106 29709106 single base substitution C A missense_variant Q138K 412C>A KIRP-US 18 29709106 29709106 single base substitution C A missense_variant Q232K 694C>A LICA-FR 18 29675948 29675948 single base substitution T G intron_variant LICA-FR 18 29691810 29691810 single base substitution T C downstream_gene_variant LICA-FR 18 29691810 29691810 single base substitution T C exon_variant LICA-FR 18 29691810 29691810 single base substitution T C intron_variant LICA-FR 18 29691810 29691810 single base substitution T C synonymous_variant C22C 66T>C LICA-FR 18 29691810 29691810 single base substitution T C synonymous_variant C68C 204T>C LICA-FR 18 29699790 29699790 single base substitution A G intron_variant LICA-FR 18 29699790 29699790 single base substitution A G upstream_gene_variant LINC-JP 18 29671262 29671262 single base substitution G A upstream_gene_variant LINC-JP 18 29693831 29693831 single base substitution A G downstream_gene_variant LINC-JP 18 29693831 29693831 single base substitution A G exon_variant LINC-JP 18 29693831 29693831 single base substitution A G intron_variant LINC-JP 18 29693831 29693831 single base substitution A G splice_region_variant LINC-JP 18 29696494 29696494 single base substitution T A downstream_gene_variant LINC-JP 18 29696494 29696494 single base substitution T A intron_variant LINC-JP 18 29705320 29705320 single base substitution G A downstream_gene_variant LINC-JP 18 29705320 29705320 single base substitution G A intron_variant LIRI-JP 18 29669266 29669266 single base substitution G T upstream_gene_variant LIRI-JP 18 29670433 29670433 single base substitution A C upstream_gene_variant LIRI-JP 18 29670514 29670514 single base substitution T G upstream_gene_variant LIRI-JP 18 29670560 29670560 single base substitution C G upstream_gene_variant LIRI-JP 18 29670578 29670578 single base substitution A C upstream_gene_variant LIRI-JP 18 29670600 29670600 single base substitution A C upstream_gene_variant LIRI-JP 18 29674198 29674198 single base substitution A T intron_variant LIRI-JP 18 29675420 29675420 single base substitution G T intron_variant LIRI-JP 18 29675733 29675733 single base substitution C T intron_variant LIRI-JP 18 29676263 29676263 single base substitution A T intron_variant LIRI-JP 18 29678053 29678053 single base substitution G A intron_variant LIRI-JP 18 29678541 29678541 single base substitution C T intron_variant LIRI-JP 18 29679653 29679653 single base substitution G A intron_variant LIRI-JP 18 29686950 29686950 single base substitution C A intron_variant LIRI-JP 18 29688752 29688752 single base substitution C G intron_variant LIRI-JP 18 29690614 29690614 single base substitution C T downstream_gene_variant LIRI-JP 18 29690614 29690614 single base substitution C T intron_variant LIRI-JP 18 29691470 29691470 single base substitution A G downstream_gene_variant LIRI-JP 18 29691470 29691470 single base substitution A G intron_variant LIRI-JP 18 29692996 29692996 single base substitution T C downstream_gene_variant LIRI-JP 18 29692996 29692996 single base substitution T C intron_variant LIRI-JP 18 29694005 29694005 single base substitution C T downstream_gene_variant LIRI-JP 18 29694005 29694005 single base substitution C T intron_variant LIRI-JP 18 29694202 29694202 single base substitution T A downstream_gene_variant LIRI-JP 18 29694202 29694202 single base substitution T A intron_variant LIRI-JP 18 29694807 29694807 single base substitution A G downstream_gene_variant LIRI-JP 18 29694807 29694807 single base substitution A G intron_variant LIRI-JP 18 29695194 29695194 single base substitution A G downstream_gene_variant LIRI-JP 18 29695194 29695194 single base substitution A G intron_variant LIRI-JP 18 29699899 29699899 single base substitution A G intron_variant LIRI-JP 18 29699899 29699899 single base substitution A G upstream_gene_variant LIRI-JP 18 29700681 29700681 single base substitution T C intron_variant LIRI-JP 18 29700681 29700681 single base substitution T C upstream_gene_variant LIRI-JP 18 29701809 29701809 single base substitution T C intron_variant LIRI-JP 18 29701809 29701809 single base substitution T C upstream_gene_variant LIRI-JP 18 29702855 29702855 single base substitution C T intron_variant LIRI-JP 18 29702855 29702855 single base substitution C T upstream_gene_variant LIRI-JP 18 29705313 29705313 single base substitution T G downstream_gene_variant LIRI-JP 18 29705313 29705313 single base substitution T G intron_variant LIRI-JP 18 29709859 29709859 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 29709859 29709859 single base substitution A G downstream_gene_variant LIRI-JP 18 29710891 29710891 single base substitution C T 3_prime_UTR_variant LIRI-JP 18 29710891 29710891 single base substitution C T downstream_gene_variant LIRI-JP 18 29711353 29711356 deletion of <=200bp TTAC - 3_prime_UTR_variant LIRI-JP 18 29711353 29711356 deletion of <=200bp TTAC - downstream_gene_variant LIRI-JP 18 29714739 29714739 single base substitution C A downstream_gene_variant LIRI-JP 18 29715652 29715652 single base substitution T C downstream_gene_variant LUSC-KR 18 29668491 29668491 single base substitution A T upstream_gene_variant LUSC-KR 18 29673628 29673628 single base substitution G C intron_variant LUSC-KR 18 29673660 29673660 single base substitution G T intron_variant LUSC-KR 18 29679420 29679420 single base substitution C T intron_variant LUSC-KR 18 29679700 29679700 single base substitution C G intron_variant LUSC-KR 18 29691110 29691110 single base substitution A G downstream_gene_variant LUSC-KR 18 29691110 29691110 single base substitution A G intron_variant LUSC-KR 18 29697631 29697631 single base substitution G A downstream_gene_variant LUSC-KR 18 29697631 29697631 single base substitution G A intron_variant LUSC-US 18 29693742 29693742 single base substitution C G downstream_gene_variant LUSC-US 18 29693742 29693742 single base substitution C G exon_variant LUSC-US 18 29693742 29693742 single base substitution C G intron_variant LUSC-US 18 29693742 29693742 single base substitution C G missense_variant S104C 311C>G LUSC-US 18 29693742 29693742 single base substitution C G missense_variant S58C 173C>G LUSC-US 18 29703512 29703512 single base substitution A G intron_variant LUSC-US 18 29703512 29703512 single base substitution A G missense_variant T142A 424A>G LUSC-US 18 29703512 29703512 single base substitution A G missense_variant T48A 142A>G LUSC-US 18 29703512 29703512 single base substitution A G missense_variant T9A 25A>G MALY-DE 18 29668884 29668884 single base substitution G T upstream_gene_variant MALY-DE 18 29669878 29669878 single base substitution A G upstream_gene_variant MALY-DE 18 29673054 29673054 single base substitution C T intron_variant MALY-DE 18 29679537 29679537 single base substitution T A intron_variant MALY-DE 18 29679727 29679727 single base substitution G A intron_variant MALY-DE 18 29679809 29679809 single base substitution A T intron_variant MALY-DE 18 29679811 29679811 single base substitution T C intron_variant MALY-DE 18 29679831 29679831 single base substitution A G intron_variant MALY-DE 18 29679854 29679854 single base substitution T A intron_variant MALY-DE 18 29685853 29685853 single base substitution T G intron_variant MALY-DE 18 29687199 29687199 single base substitution T G intron_variant MALY-DE 18 29687431 29687431 deletion of <=200bp T - intron_variant MALY-DE 18 29696457 29696457 single base substitution A C downstream_gene_variant MALY-DE 18 29696457 29696457 single base substitution A C intron_variant MALY-DE 18 29699424 29699424 single base substitution G T intron_variant MALY-DE 18 29699424 29699424 single base substitution G T upstream_gene_variant MALY-DE 18 29704407 29704407 single base substitution A G intron_variant MALY-DE 18 29705207 29705207 single base substitution C T downstream_gene_variant MALY-DE 18 29705207 29705207 single base substitution C T intron_variant MALY-DE 18 29706445 29706445 single base substitution A G downstream_gene_variant MALY-DE 18 29706445 29706445 single base substitution A G intron_variant MALY-DE 18 29712265 29712265 single base substitution T G downstream_gene_variant MELA-AU 18 29667057 29667057 single base substitution G A upstream_gene_variant MELA-AU 18 29668476 29668476 single base substitution T C upstream_gene_variant MELA-AU 18 29668642 29668642 single base substitution T G upstream_gene_variant MELA-AU 18 29668720 29668720 single base substitution C T upstream_gene_variant MELA-AU 18 29668916 29668916 single base substitution G A upstream_gene_variant MELA-AU 18 29669393 29669393 single base substitution T A upstream_gene_variant MELA-AU 18 29669448 29669448 single base substitution C T upstream_gene_variant MELA-AU 18 29670804 29670804 single base substitution G A upstream_gene_variant MELA-AU 18 29671266 29671266 single base substitution G A upstream_gene_variant MELA-AU 18 29672508 29672508 single base substitution C T intron_variant MELA-AU 18 29672508 29672508 single base substitution C T upstream_gene_variant MELA-AU 18 29672604 29672604 single base substitution C T 5_prime_UTR_variant MELA-AU 18 29672604 29672604 single base substitution C T intron_variant MELA-AU 18 29672604 29672604 single base substitution C T upstream_gene_variant MELA-AU 18 29672736 29672736 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 18 29672736 29672736 single base substitution C T exon_variant MELA-AU 18 29672736 29672736 single base substitution C T intron_variant MELA-AU 18 29672848 29672848 single base substitution G A intron_variant MELA-AU 18 29672848 29672848 single base substitution G A missense_variant V37I 109G>A MELA-AU 18 29672848 29672848 single base substitution G A splice_region_variant MELA-AU 18 29674191 29674191 single base substitution T C intron_variant MELA-AU 18 29676516 29676519 deletion of <=200bp TACT - intron_variant MELA-AU 18 29676600 29676600 single base substitution G A intron_variant MELA-AU 18 29677272 29677272 single base substitution G A intron_variant MELA-AU 18 29677577 29677577 single base substitution G A intron_variant MELA-AU 18 29677724 29677724 single base substitution G A intron_variant MELA-AU 18 29677907 29677907 single base substitution A G intron_variant MELA-AU 18 29678085 29678085 single base substitution G A intron_variant MELA-AU 18 29678210 29678211 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 29678370 29678370 single base substitution C T intron_variant MELA-AU 18 29678698 29678698 single base substitution C T intron_variant MELA-AU 18 29679154 29679154 single base substitution C T intron_variant MELA-AU 18 29679258 29679258 single base substitution C T intron_variant MELA-AU 18 29679396 29679396 single base substitution C T intron_variant MELA-AU 18 29679448 29679448 single base substitution C T intron_variant MELA-AU 18 29679478 29679478 single base substitution G A intron_variant MELA-AU 18 29680524 29680524 single base substitution C T intron_variant MELA-AU 18 29680825 29680825 single base substitution C T intron_variant MELA-AU 18 29681531 29681531 single base substitution T A intron_variant MELA-AU 18 29681607 29681607 single base substitution C T intron_variant MELA-AU 18 29681652 29681652 single base substitution C T intron_variant MELA-AU 18 29681747 29681747 single base substitution T C intron_variant MELA-AU 18 29682103 29682103 deletion of <=200bp C - intron_variant MELA-AU 18 29682406 29682406 single base substitution C T intron_variant MELA-AU 18 29682635 29682635 single base substitution G T intron_variant MELA-AU 18 29682806 29682806 single base substitution C T intron_variant MELA-AU 18 29683229 29683229 single base substitution G A intron_variant MELA-AU 18 29683948 29683948 single base substitution C T intron_variant MELA-AU 18 29684057 29684057 single base substitution A G intron_variant MELA-AU 18 29684995 29684996 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 29685052 29685052 single base substitution C T intron_variant MELA-AU 18 29685357 29685357 single base substitution C T intron_variant MELA-AU 18 29685513 29685513 single base substitution A G intron_variant MELA-AU 18 29686006 29686006 single base substitution C T intron_variant MELA-AU 18 29686467 29686467 single base substitution C T intron_variant MELA-AU 18 29686539 29686539 single base substitution G A intron_variant MELA-AU 18 29686634 29686634 single base substitution C T intron_variant MELA-AU 18 29686693 29686693 deletion of <=200bp A - intron_variant MELA-AU 18 29686838 29686838 single base substitution T A intron_variant MELA-AU 18 29687203 29687204 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 29687435 29687435 single base substitution T A intron_variant MELA-AU 18 29687817 29687817 single base substitution C T intron_variant MELA-AU 18 29689678 29689678 single base substitution C T downstream_gene_variant MELA-AU 18 29689678 29689678 single base substitution C T intron_variant MELA-AU 18 29689723 29689723 single base substitution C T downstream_gene_variant MELA-AU 18 29689723 29689723 single base substitution C T intron_variant MELA-AU 18 29690901 29690901 single base substitution G A downstream_gene_variant MELA-AU 18 29690901 29690901 single base substitution G A intron_variant MELA-AU 18 29692089 29692089 single base substitution T G downstream_gene_variant MELA-AU 18 29692089 29692089 single base substitution T G intron_variant MELA-AU 18 29692230 29692230 single base substitution C G downstream_gene_variant MELA-AU 18 29692230 29692230 single base substitution C G intron_variant MELA-AU 18 29693025 29693025 single base substitution C T downstream_gene_variant MELA-AU 18 29693025 29693025 single base substitution C T intron_variant MELA-AU 18 29693293 29693293 single base substitution T C downstream_gene_variant MELA-AU 18 29693293 29693293 single base substitution T C intron_variant MELA-AU 18 29693513 29693513 single base substitution C T downstream_gene_variant MELA-AU 18 29693513 29693513 single base substitution C T intron_variant MELA-AU 18 29693795 29693795 single base substitution C T downstream_gene_variant MELA-AU 18 29693795 29693795 single base substitution C T exon_variant MELA-AU 18 29693795 29693795 single base substitution C T intron_variant MELA-AU 18 29693795 29693795 single base substitution C T stop_gained Q122* 364C>T MELA-AU 18 29693795 29693795 single base substitution C T stop_gained Q76* 226C>T MELA-AU 18 29694526 29694526 single base substitution A G downstream_gene_variant MELA-AU 18 29694526 29694526 single base substitution A G intron_variant MELA-AU 18 29694690 29694690 single base substitution C T downstream_gene_variant MELA-AU 18 29694690 29694690 single base substitution C T intron_variant MELA-AU 18 29695258 29695258 single base substitution A G downstream_gene_variant MELA-AU 18 29695258 29695258 single base substitution A G intron_variant MELA-AU 18 29695607 29695607 single base substitution C T downstream_gene_variant MELA-AU 18 29695607 29695607 single base substitution C T intron_variant MELA-AU 18 29695754 29695754 single base substitution C T downstream_gene_variant MELA-AU 18 29695754 29695754 single base substitution C T intron_variant MELA-AU 18 29695900 29695900 single base substitution G C downstream_gene_variant MELA-AU 18 29695900 29695900 single base substitution G C intron_variant MELA-AU 18 29697062 29697062 single base substitution A G downstream_gene_variant MELA-AU 18 29697062 29697062 single base substitution A G intron_variant MELA-AU 18 29697155 29697155 single base substitution C T downstream_gene_variant MELA-AU 18 29697155 29697155 single base substitution C T intron_variant MELA-AU 18 29697740 29697740 single base substitution T A downstream_gene_variant MELA-AU 18 29697740 29697740 single base substitution T A intron_variant MELA-AU 18 29697821 29697821 single base substitution C T downstream_gene_variant MELA-AU 18 29697821 29697821 single base substitution C T intron_variant MELA-AU 18 29698777 29698777 single base substitution A G downstream_gene_variant MELA-AU 18 29698777 29698777 single base substitution A G intron_variant MELA-AU 18 29698777 29698777 single base substitution A G upstream_gene_variant MELA-AU 18 29699623 29699623 single base substitution G A intron_variant MELA-AU 18 29699623 29699623 single base substitution G A upstream_gene_variant MELA-AU 18 29699672 29699672 single base substitution C T intron_variant MELA-AU 18 29699672 29699672 single base substitution C T upstream_gene_variant MELA-AU 18 29699965 29699965 single base substitution C T intron_variant MELA-AU 18 29699965 29699965 single base substitution C T upstream_gene_variant MELA-AU 18 29699978 29699978 single base substitution C T intron_variant MELA-AU 18 29699978 29699978 single base substitution C T upstream_gene_variant MELA-AU 18 29700705 29700705 single base substitution G A intron_variant MELA-AU 18 29700705 29700705 single base substitution G A upstream_gene_variant MELA-AU 18 29701191 29701191 single base substitution G A intron_variant MELA-AU 18 29701191 29701191 single base substitution G A upstream_gene_variant MELA-AU 18 29701299 29701299 single base substitution A G intron_variant MELA-AU 18 29701299 29701299 single base substitution A G upstream_gene_variant MELA-AU 18 29701427 29701427 single base substitution C T intron_variant MELA-AU 18 29701427 29701427 single base substitution C T upstream_gene_variant MELA-AU 18 29701981 29701981 single base substitution G A intron_variant MELA-AU 18 29701981 29701981 single base substitution G A upstream_gene_variant MELA-AU 18 29702008 29702008 single base substitution T G intron_variant MELA-AU 18 29702008 29702008 single base substitution T G upstream_gene_variant MELA-AU 18 29702318 29702318 single base substitution T A intron_variant MELA-AU 18 29702318 29702318 single base substitution T A upstream_gene_variant MELA-AU 18 29702669 29702669 single base substitution C T intron_variant MELA-AU 18 29702669 29702669 single base substitution C T upstream_gene_variant MELA-AU 18 29702778 29702778 single base substitution C T intron_variant MELA-AU 18 29702778 29702778 single base substitution C T upstream_gene_variant MELA-AU 18 29702920 29702920 single base substitution T A intron_variant MELA-AU 18 29702920 29702920 single base substitution T A upstream_gene_variant MELA-AU 18 29702935 29702935 single base substitution A T intron_variant MELA-AU 18 29702935 29702935 single base substitution A T upstream_gene_variant MELA-AU 18 29703177 29703177 single base substitution T C intron_variant MELA-AU 18 29703177 29703177 single base substitution T C upstream_gene_variant MELA-AU 18 29703329 29703329 single base substitution T A intron_variant MELA-AU 18 29703329 29703329 single base substitution T A upstream_gene_variant MELA-AU 18 29704114 29704114 single base substitution C T intron_variant MELA-AU 18 29704213 29704213 single base substitution C T intron_variant MELA-AU 18 29704486 29704486 single base substitution T A intron_variant MELA-AU 18 29705631 29705631 single base substitution C T downstream_gene_variant MELA-AU 18 29705631 29705631 single base substitution C T intron_variant MELA-AU 18 29705633 29705633 single base substitution T G downstream_gene_variant MELA-AU 18 29705633 29705633 single base substitution T G intron_variant MELA-AU 18 29705722 29705722 single base substitution C T downstream_gene_variant MELA-AU 18 29705722 29705722 single base substitution C T intron_variant MELA-AU 18 29706632 29706632 single base substitution T C downstream_gene_variant MELA-AU 18 29706632 29706632 single base substitution T C intron_variant MELA-AU 18 29707336 29707336 single base substitution A G downstream_gene_variant MELA-AU 18 29707336 29707336 single base substitution A G intron_variant MELA-AU 18 29707489 29707489 single base substitution C T downstream_gene_variant MELA-AU 18 29707489 29707489 single base substitution C T intron_variant MELA-AU 18 29708166 29708166 single base substitution A G downstream_gene_variant MELA-AU 18 29708166 29708166 single base substitution A G intron_variant MELA-AU 18 29709127 29709127 single base substitution G T 3_prime_UTR_variant MELA-AU 18 29709127 29709127 single base substitution G T downstream_gene_variant MELA-AU 18 29709127 29709127 single base substitution G T stop_gained E145* 433G>T MELA-AU 18 29709127 29709127 single base substitution G T stop_gained E239* 715G>T MELA-AU 18 29709449 29709449 single base substitution A G 3_prime_UTR_variant MELA-AU 18 29709449 29709449 single base substitution A G downstream_gene_variant MELA-AU 18 29709627 29709627 single base substitution T A 3_prime_UTR_variant MELA-AU 18 29709627 29709627 single base substitution T A downstream_gene_variant MELA-AU 18 29710603 29710603 single base substitution T C 3_prime_UTR_variant MELA-AU 18 29710603 29710603 single base substitution T C downstream_gene_variant MELA-AU 18 29710946 29710946 single base substitution T A 3_prime_UTR_variant MELA-AU 18 29710946 29710946 single base substitution T A downstream_gene_variant MELA-AU 18 29710948 29710948 single base substitution C A 3_prime_UTR_variant MELA-AU 18 29710948 29710948 single base substitution C A downstream_gene_variant MELA-AU 18 29711236 29711236 single base substitution C T 3_prime_UTR_variant MELA-AU 18 29711236 29711236 single base substitution C T downstream_gene_variant MELA-AU 18 29711270 29711270 single base substitution C A 3_prime_UTR_variant MELA-AU 18 29711270 29711270 single base substitution C A downstream_gene_variant MELA-AU 18 29713954 29713954 single base substitution T A downstream_gene_variant MELA-AU 18 29714011 29714011 single base substitution C T downstream_gene_variant MELA-AU 18 29714202 29714202 single base substitution C A downstream_gene_variant MELA-AU 18 29715581 29715581 single base substitution C T downstream_gene_variant MELA-AU 18 29715804 29715804 single base substitution T C downstream_gene_variant ORCA-IN 18 29670174 29670174 single base substitution A G upstream_gene_variant ORCA-IN 18 29671127 29671127 single base substitution C T upstream_gene_variant ORCA-IN 18 29681194 29681194 deletion of <=200bp C - intron_variant OV-AU 18 29670647 29670647 single base substitution C G upstream_gene_variant OV-AU 18 29682251 29682251 single base substitution A C intron_variant OV-AU 18 29682327 29682327 single base substitution G A intron_variant OV-AU 18 29688163 29688163 single base substitution T C intron_variant OV-AU 18 29692974 29692974 single base substitution A G downstream_gene_variant OV-AU 18 29692974 29692974 single base substitution A G intron_variant OV-AU 18 29707526 29707526 single base substitution T G downstream_gene_variant OV-AU 18 29707526 29707526 single base substitution T G intron_variant OV-AU 18 29709195 29709195 single base substitution T G 3_prime_UTR_variant OV-AU 18 29709195 29709195 single base substitution T G downstream_gene_variant OV-AU 18 29709897 29709897 single base substitution A C 3_prime_UTR_variant OV-AU 18 29709897 29709897 single base substitution A C downstream_gene_variant OV-AU 18 29716178 29716178 single base substitution A T downstream_gene_variant PACA-AU 18 29669593 29669593 deletion of <=200bp T - upstream_gene_variant PACA-AU 18 29671246 29671246 insertion of <=200bp - TTC upstream_gene_variant PACA-AU 18 29681458 29681458 single base substitution G T intron_variant PACA-AU 18 29684606 29684606 single base substitution T A intron_variant PACA-AU 18 29689120 29689120 single base substitution C T intron_variant PACA-AU 18 29692487 29692487 deletion of <=200bp A - downstream_gene_variant PACA-AU 18 29692487 29692487 deletion of <=200bp A - intron_variant PACA-AU 18 29692832 29692832 single base substitution C T downstream_gene_variant PACA-AU 18 29692832 29692832 single base substitution C T intron_variant PACA-AU 18 29696496 29696496 single base substitution A T downstream_gene_variant PACA-AU 18 29696496 29696496 single base substitution A T intron_variant PACA-AU 18 29699393 29699393 single base substitution A T intron_variant PACA-AU 18 29699393 29699393 single base substitution A T upstream_gene_variant PACA-AU 18 29699394 29699394 single base substitution T A intron_variant PACA-AU 18 29699394 29699394 single base substitution T A upstream_gene_variant PACA-AU 18 29704042 29704042 single base substitution G C intron_variant PACA-AU 18 29708369 29708369 single base substitution T C downstream_gene_variant PACA-AU 18 29708369 29708369 single base substitution T C intron_variant PACA-CA 18 29668209 29668209 single base substitution C T upstream_gene_variant PACA-CA 18 29671183 29671183 single base substitution C T upstream_gene_variant PACA-CA 18 29675161 29675161 single base substitution C T intron_variant PACA-CA 18 29676142 29676142 single base substitution A G intron_variant PACA-CA 18 29676781 29676781 single base substitution C G intron_variant PACA-CA 18 29677631 29677631 single base substitution C T intron_variant PACA-CA 18 29677906 29677911 deletion of <=200bp TATGTG - intron_variant PACA-CA 18 29678735 29678735 single base substitution G A intron_variant PACA-CA 18 29682465 29682465 deletion of <=200bp T - intron_variant PACA-CA 18 29685213 29685213 single base substitution C A intron_variant PACA-CA 18 29686535 29686535 single base substitution A G intron_variant PACA-CA 18 29687440 29687440 single base substitution A T intron_variant PACA-CA 18 29688493 29688493 single base substitution T C intron_variant PACA-CA 18 29689260 29689260 single base substitution G A intron_variant PACA-CA 18 29690945 29690945 single base substitution G A downstream_gene_variant PACA-CA 18 29690945 29690945 single base substitution G A intron_variant PACA-CA 18 29695726 29695726 single base substitution A G downstream_gene_variant PACA-CA 18 29695726 29695726 single base substitution A G intron_variant PACA-CA 18 29697012 29697012 single base substitution C T downstream_gene_variant PACA-CA 18 29697012 29697012 single base substitution C T intron_variant PACA-CA 18 29706194 29706194 deletion of <=200bp T - downstream_gene_variant PACA-CA 18 29706194 29706194 deletion of <=200bp T - intron_variant PACA-CA 18 29706657 29706657 single base substitution C T downstream_gene_variant PACA-CA 18 29706657 29706657 single base substitution C T intron_variant PACA-CA 18 29706657 29706657 single base substitution C T missense_variant T188I 563C>T PACA-CA 18 29706657 29706657 single base substitution C T missense_variant T94I 281C>T PACA-CA 18 29706742 29706746 deletion of <=200bp ATTTG - 3_prime_UTR_variant PACA-CA 18 29706742 29706746 deletion of <=200bp ATTTG - downstream_gene_variant PACA-CA 18 29706742 29706746 deletion of <=200bp ATTTG - frameshift_variant QFD122 PACA-CA 18 29706742 29706746 deletion of <=200bp ATTTG - frameshift_variant QFD216 PACA-CA 18 29714240 29714240 single base substitution A G downstream_gene_variant PAEN-AU 18 29667918 29667918 single base substitution C A upstream_gene_variant PAEN-AU 18 29668389 29668389 single base substitution G T upstream_gene_variant PAEN-IT 18 29669955 29669955 single base substitution T C upstream_gene_variant PBCA-DE 18 29671391 29671391 insertion of <=200bp - A upstream_gene_variant PBCA-DE 18 29678795 29678795 single base substitution G A intron_variant PBCA-DE 18 29679696 29679696 single base substitution T G intron_variant PBCA-DE 18 29687268 29687268 single base substitution G A intron_variant PRAD-CA 18 29689023 29689023 single base substitution G T intron_variant PRAD-CA 18 29712737 29712737 single base substitution A G downstream_gene_variant PRAD-UK 18 29671938 29671938 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK 18 29671938 29671938 single base substitution G T exon_variant PRAD-UK 18 29671938 29671938 single base substitution G T upstream_gene_variant PRAD-UK 18 29673270 29673270 single base substitution G T intron_variant PRAD-UK 18 29673772 29673772 single base substitution A G intron_variant PRAD-UK 18 29696071 29696071 single base substitution A C downstream_gene_variant PRAD-UK 18 29696071 29696071 single base substitution A C intron_variant PRAD-UK 18 29713954 29713954 single base substitution T C downstream_gene_variant PRAD-UK 18 29715507 29715507 single base substitution C T downstream_gene_variant READ-US 18 29706735 29706735 single base substitution G T 3_prime_UTR_variant READ-US 18 29706735 29706735 single base substitution G T downstream_gene_variant READ-US 18 29706735 29706735 single base substitution G T missense_variant R120I 359G>T READ-US 18 29706735 29706735 single base substitution G T missense_variant R214I 641G>T RECA-EU 18 29675381 29675381 single base substitution T C intron_variant RECA-EU 18 29679951 29679951 single base substitution T C intron_variant RECA-EU 18 29714644 29714644 single base substitution T A downstream_gene_variant SKCA-BR 18 29667339 29667339 single base substitution G A upstream_gene_variant SKCA-BR 18 29667601 29667601 single base substitution A C upstream_gene_variant SKCA-BR 18 29672434 29672434 single base substitution T G intron_variant SKCA-BR 18 29672434 29672434 single base substitution T G upstream_gene_variant SKCA-BR 18 29672725 29672725 single base substitution T C 5_prime_UTR_variant SKCA-BR 18 29672725 29672725 single base substitution T C exon_variant SKCA-BR 18 29672725 29672725 single base substitution T C intron_variant SKCA-BR 18 29672731 29672731 single base substitution T C 5_prime_UTR_variant SKCA-BR 18 29672731 29672731 single base substitution T C exon_variant SKCA-BR 18 29672731 29672731 single base substitution T C intron_variant SKCA-BR 18 29673068 29673076 deletion of <=200bp GCTCCCGCT - intron_variant SKCA-BR 18 29674992 29674992 single base substitution G A intron_variant SKCA-BR 18 29675237 29675237 single base substitution A C intron_variant SKCA-BR 18 29677307 29677307 single base substitution T A intron_variant SKCA-BR 18 29678682 29678682 single base substitution G A intron_variant SKCA-BR 18 29681177 29681177 insertion of <=200bp - CT intron_variant SKCA-BR 18 29683208 29683208 single base substitution G A intron_variant SKCA-BR 18 29686007 29686007 single base substitution C G intron_variant SKCA-BR 18 29689598 29689598 single base substitution C T downstream_gene_variant SKCA-BR 18 29689598 29689598 single base substitution C T intron_variant SKCA-BR 18 29690403 29690403 single base substitution C T downstream_gene_variant SKCA-BR 18 29690403 29690403 single base substitution C T intron_variant SKCA-BR 18 29690459 29690459 single base substitution G A downstream_gene_variant SKCA-BR 18 29690459 29690459 single base substitution G A intron_variant SKCA-BR 18 29691853 29691853 single base substitution T C downstream_gene_variant SKCA-BR 18 29691853 29691853 single base substitution T C exon_variant SKCA-BR 18 29691853 29691853 single base substitution T C intron_variant SKCA-BR 18 29691853 29691853 single base substitution T C missense_variant S37P 109T>C SKCA-BR 18 29691853 29691853 single base substitution T C missense_variant S83P 247T>C SKCA-BR 18 29692651 29692651 single base substitution A G downstream_gene_variant SKCA-BR 18 29692651 29692651 single base substitution A G intron_variant SKCA-BR 18 29694839 29694839 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 18 29694839 29694839 insertion of <=200bp - TG intron_variant SKCA-BR 18 29699657 29699657 single base substitution G A intron_variant SKCA-BR 18 29699657 29699657 single base substitution G A upstream_gene_variant SKCA-BR 18 29701021 29701021 single base substitution C T intron_variant SKCA-BR 18 29701021 29701021 single base substitution C T upstream_gene_variant SKCA-BR 18 29701022 29701022 single base substitution C T intron_variant SKCA-BR 18 29701022 29701022 single base substitution C T upstream_gene_variant SKCA-BR 18 29703094 29703094 single base substitution A C intron_variant SKCA-BR 18 29703094 29703094 single base substitution A C upstream_gene_variant SKCA-BR 18 29704170 29704170 single base substitution C T intron_variant SKCA-BR 18 29710356 29710356 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 29710356 29710356 single base substitution C T downstream_gene_variant SKCA-BR 18 29710769 29710769 single base substitution T A 3_prime_UTR_variant SKCA-BR 18 29710769 29710769 single base substitution T A downstream_gene_variant SKCA-BR 18 29712996 29712996 single base substitution C T downstream_gene_variant SKCA-BR 18 29715447 29715447 single base substitution C T downstream_gene_variant STAD-US 18 29693731 29693731 single base substitution T C downstream_gene_variant STAD-US 18 29693731 29693731 single base substitution T C exon_variant STAD-US 18 29693731 29693731 single base substitution T C intron_variant STAD-US 18 29693731 29693731 single base substitution T C synonymous_variant H100H 300T>C STAD-US 18 29693731 29693731 single base substitution T C synonymous_variant H54H 162T>C STAD-US 18 29693732 29693732 single base substitution C A downstream_gene_variant STAD-US 18 29693732 29693732 single base substitution C A exon_variant STAD-US 18 29693732 29693732 single base substitution C A intron_variant STAD-US 18 29693732 29693732 single base substitution C A missense_variant H101N 301C>A STAD-US 18 29693732 29693732 single base substitution C A missense_variant H55N 163C>A STAD-US 18 29693753 29693753 single base substitution T C downstream_gene_variant STAD-US 18 29693753 29693753 single base substitution T C exon_variant STAD-US 18 29693753 29693753 single base substitution T C intron_variant STAD-US 18 29693753 29693753 single base substitution T C missense_variant Y108H 322T>C STAD-US 18 29693753 29693753 single base substitution T C missense_variant Y62H 184T>C UCEC-US 18 29691760 29691760 single base substitution G A downstream_gene_variant UCEC-US 18 29691760 29691760 single base substitution G A exon_variant UCEC-US 18 29691760 29691760 single base substitution G A intron_variant UCEC-US 18 29691760 29691760 single base substitution G A missense_variant A52T 154G>A UCEC-US 18 29691760 29691760 single base substitution G A missense_variant A6T 16G>A UCEC-US 18 29704699 29704699 single base substitution C A missense_variant S132Y 395C>A UCEC-US 18 29704699 29704699 single base substitution C A missense_variant S151Y 452C>A UCEC-US 18 29704699 29704699 single base substitution C A missense_variant S18Y 53C>A UCEC-US 18 29704699 29704699 single base substitution C A missense_variant S57Y 170C>A UCEC-US 18 29704758 29704758 single base substitution C T downstream_gene_variant UCEC-US 18 29704758 29704758 single base substitution C T missense_variant R171C 511C>T UCEC-US 18 29704758 29704758 single base substitution C T missense_variant R38C 112C>T UCEC-US 18 29704758 29704758 single base substitution C T missense_variant R77C 229C>T UCEC-US 18 29709127 29709127 single base substitution G T 3_prime_UTR_variant UCEC-US 18 29709127 29709127 single base substitution G T downstream_gene_variant UCEC-US 18 29709127 29709127 single base substitution G T stop_gained E145* 433G>T UCEC-US 18 29709127 29709127 single base substitution G T stop_gained E239* 715G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D7-A4YY-01 COSM283106 c.408G>A p.T136T Substitution - coding silent 17:82472586-82472586 + TCGA-BT-A20N-01 COSM417909 c.385G>C p.G129R Substitution - Missense 17:82468896-82468896 + HCC066T COSM5821291 c.360A>T p.R120S Substitution - Missense 17:82468871-82468871 + TCGA-P4-A5EB-01 COSM3989533 c.694C>A p.Q232K Substitution - Missense 18:32129143-32129143 + TCGA-18-3415-01 COSM708577 c.1007A>G p.H336R Substitution - Missense 17:82484848-82484848 + ZZUFHECRKL-G028T COSM5437541 c.458G>C p.R153P Substitution - Missense 17:82472636-82472636 + H1155 COSM1195759 c.728C>T p.A243V Substitution - Missense 17:82481170-82481170 + TCGA-BP-4162-01 COSM1136042 c.273A>G p.K91K Substitution - coding silent 18:32111916-32111916 + TCGA-EE-A3JI-06 COSM3523867 c.244C>T p.L82F Substitution - Missense 17:82464422-82464422 + C91 COSM4444627 c.454G>A p.V152M Substitution - Missense 17:82472632-82472632 + ESCC_68 COSM5633902 c.724C>T p.Q242* Substitution - Nonsense 18:32129173-32129173 + 2492722 COSM5722708 c.1186C>T p.R396* Substitution - Nonsense 17:82485573-82485573 + CHC432T COSM4953883 c.235G>C p.V79L Substitution - Missense 17:82464413-82464413 + GB23 COSM1743858 c.375C>T p.L125L Substitution - coding silent 17:82468886-82468886 + WSU-HN30 COSM1162296 c.1418A>G p.E473G Substitution - Missense 17:82488066-82488066 + C709 COSM4443926 c.437A>G p.Q146R Substitution - Missense 18:32123562-32123562 + TCGA-B5-A11E-01 COSM986135 c.112G>T p.G38* Substitution - Nonsense 17:82464290-82464290 + SNUH_G33_S1 COSM1216638 c.1001C>T p.T334M Substitution - Missense 17:82484842-82484842 + PTC-6C COSM1162296 c.1418A>G p.E473G Substitution - Missense 17:82488066-82488066 + CSCC-31-T COSM4450530 c.972-1G>A p.? Unknown 17:82484812-82484812 + 587336 COSM1216637 c.1107+2G>T p.? Unknown 17:82484950-82484950 + Pat_41_B COSM437837 c.928G>A p.E310K Substitution - Missense 17:82483736-82483736 + 2492720 COSM5722708 c.1186C>T p.R396* Substitution - Nonsense 17:82485573-82485573 + OSCC-GB_00350111 COSM3712485 c.1268G>T p.G423V Substitution - Missense 17:82487916-82487916 + TCGA-A4-7997-01 COSM3989448 c.1187G>A p.R396Q Substitution - Missense 17:82485574-82485574 + TCGA-33-4532-01 COSM708061 c.424A>G p.T142A Substitution - Missense 18:32123549-32123549 + PD13771a COSM5780314 c.96G>C p.Q32H Substitution - Missense 17:82460060-82460060 + CSCC-31-T COSM4572027 c.621T>A p.D207E Substitution - Missense 17:82478900-82478900 + T3082 COSM4070917 c.407C>T p.T136M Substitution - Missense 17:82472585-82472585 + TCGA-HC-7080-01 COSM3672636 c.742C>A p.R248R Substitution - coding silent 17:82481184-82481184 + TCGA-AA-A00N-01 COSM276256 c.153C>T p.S51S Substitution - coding silent 17:82464331-82464331 + SCC-15 COSM1162296 c.1418A>G p.E473G Substitution - Missense 17:82488066-82488066 + TCGA-AF-5654-01 COSM1564118 c.1478G>A p.R493H Substitution - Missense 17:82488126-82488126 + ESCC_96 COSM5649802 c.824C>A p.A275E Substitution - Missense 17:82483221-82483221 + TCGA-A2-A0T5-01 COSM3821062 c.490A>C p.T164P Substitution - Missense 17:82472668-82472668 + HCC98T COSM1611177 c.392+8A>G p.? Unknown 18:32113868-32113868 + ESCC-162T COSM3937668 c.416C>G p.A139G Substitution - Missense 17:82472594-82472594 + GCT41 COSM5749774 c.233G>A p.R78H Substitution - Missense 17:82464411-82464411 + TCGA-12-0707 COSM2154333 c.1351G>A p.A451T Substitution - Missense 17:82487999-82487999 + ESCC_35 COSM5628630 c.355C>G p.P119A Substitution - Missense 18:32113823-32113823 + TCGA-EE-A2MS-06 COSM3523869 c.1022C>T p.S341L Substitution - Missense 17:82484863-82484863 + H1155 COSM1195625 c.847G>A p.G283R Substitution - Missense 17:82483244-82483244 + TCGA-12-0707 COSM2154332 c.1353T>C p.A451A Substitution - coding silent 17:82488001-82488001 + CHC304T COSM4788474 c.204T>C p.C68C Substitution - coding silent 18:32111847-32111847 + 2492726 COSM3523868 c.627C>T p.F209F Substitution - coding silent 17:82478906-82478906 + PA055 COSM1162296 c.1418A>G p.E473G Substitution - Missense 17:82488066-82488066 + TCGA-AA-3821-01 COSM294776 c.109G>A p.V37I Substitution - Missense 18:32092885-32092885 + TCGA-EE-A2GO-06 COSM3523868 c.627C>T p.F209F Substitution - coding silent 17:82478906-82478906 + TCGA-29-2434-01 COSM1324629 c.707C>T p.A236V Substitution - Missense 18:32129156-32129156 + S01023 COSM5666501 c.1107+1A>T p.? Unknown 17:82484949-82484949 + TCGA-CM-5861-01 COSM1388424 c.656A>G p.Y219C Substitution - Missense 18:32126787-32126787 + TCGA-22-5472-01 COSM708576 c.1471C>A p.Q491K Substitution - Missense 17:82488119-82488119 + TCGA-BH-A0AW-01 COSM438054 c.173G>A p.R58H Substitution - Missense 18:32111816-32111816 + TCGA-AD-6964-01 COSM1388423 c.296G>A p.R99K Substitution - Missense 18:32113764-32113764 + TCGA-AA-3977-01 COSM5118452 c.63G>T p.E21D Substitution - Missense 17:82460027-82460027 + HCC99T COSM3717793 c.525G>C p.W175C Substitution - Missense 17:82478804-82478804 + TCGA-12-0707 COSM2154375 c.1354G>C p.D452H Substitution - Missense 17:82488002-82488002 + TCGA-HU-A4G9-01 COSM4071832 c.322T>C p.Y108H Substitution - Missense 18:32113790-32113790 + LUAD-NYU846 COSM376467 c.1083G>C p.V361V Substitution - coding silent 17:82484924-82484924 + TCGA-AY-A69D-01 COSM5137179 c.172C>T p.R58C Substitution - Missense 18:32111815-32111815 + TCGA-BH-A18P-01 COSM437837 c.928G>A p.E310K Substitution - Missense 17:82483736-82483736 + TCGA-CM-4746-01 COSM1387514 c.1147G>A p.G383R Substitution - Missense 17:82485534-82485534 + CHEWS002 COSM4580271 c.535G>A p.A179T Substitution - Missense 17:82478814-82478814 + 114 COSM5013288 c.391A>T p.S131C Substitution - Missense 18:32113859-32113859 + TCGA-AA-3815-01 COSM1387512 c.414A>G p.I138M Substitution - Missense 17:82472592-82472592 + TCGA-AC-A23H-01 COSM3821335 c.547C>G p.Q183E Substitution - Missense 18:32124831-32124831 + LC_S49 COSM1190928 c.646delC p.Q216fs*8 Deletion - Frameshift 18:32126777-32126777 + HCC69T COSM1611025 c.904G>C p.G302R Substitution - Missense 17:82483301-82483301 + TCGA-A4-8311-01 COSM3989449 c.1251C>T p.V417V Substitution - coding silent 17:82485638-82485638 + TCGA-61-1904-01 COSM1324709 c.1238A>C p.H413P Substitution - Missense 17:82485625-82485625 + TCGA-63-5131-01 COSM708062 c.311C>G p.S104C Substitution - Missense 18:32113779-32113779 + TCGA-EY-A1GS-01 COSM987712 c.154G>A p.A52T Substitution - Missense 18:32111797-32111797 + PM-3 COSM3890712 c.1330C>T p.R444W Substitution - Missense 17:82487978-82487978 + TCGA-AZ-4315-01 COSM1388422 c.242A>C p.K81T Substitution - Missense 18:32111885-32111885 + TCGA-25-2042-01 COSM117876 c.712G>T p.E238* Substitution - Nonsense 17:82481154-82481154 + TCGA-G4-6309-01 COSM1387513 c.721delC p.P242fs*13 Deletion - Frameshift 17:82481163-82481163 + TCGA-CJ-4641-01 COSM1136022 c.534C>T p.Y178Y Substitution - coding silent 17:82478813-82478813 + HCC003T COSM5819503 c.449A>G p.E150G Substitution - Missense 17:82472627-82472627 + S01366 COSM313115 c.436G>T p.E146* Substitution - Nonsense 17:82472614-82472614 + HN_01000 COSM124667 c.1505G>T p.W502L Substitution - Missense 17:82488153-82488153 + TCGA-12-0707 COSM2154461 c.1357A>T p.I453F Substitution - Missense 17:82488005-82488005 + 1_RESISTANT COSM1719614 c.1091T>A p.V364D Substitution - Missense 17:82484932-82484932 + TCGA-BR-4184-01 COSM4070917 c.407C>T p.T136M Substitution - Missense 17:82472585-82472585 + TCGA-BR-8680-01 COSM4071831 c.301C>A p.H101N Substitution - Missense 18:32113769-32113769 + TCGA-A5-A0GP-01 COSM987715 c.715G>T p.E239* Substitution - Nonsense 18:32129164-32129164 + CACO2 COSM2806843 c.411G>A p.T137T Substitution - coding silent 17:82472589-82472589 + TCGA-AA-A010-01 COSM283106 c.408G>A p.T136T Substitution - coding silent 17:82472586-82472586 + 587376 COSM1223898 c.498T>A p.N166K Substitution - Missense 18:32124782-32124782 + TCGA-23-1120-01 COSM112075 c.1469_1470insGA p.S490fs*>14 Insertion - Frameshift 17:82488117-82488118 + 587284 COSM1216638 c.1001C>T p.T334M Substitution - Missense 17:82484842-82484842 + HCT8 COSM2809779 c.151G>A p.G51R Substitution - Missense 18:32111794-32111794 + 12-P4072 COSM4580269 c.472C>G p.H158D Substitution - Missense 17:82472650-82472650 + S01366 COSM313115 c.436G>T p.E146* Substitution - Nonsense 17:82472614-82472614 + TCGA-AP-A059-01 COSM987714 c.511C>T p.R171C Substitution - Missense 18:32124795-32124795 + OSCC-GB_00180111 COSM3712484 c.642C>A p.N214K Substitution - Missense 17:82481084-82481084 + TCGA-C8-A1HO-01 COSM1480196 c.193G>A p.G65R Substitution - Missense 17:82464371-82464371 + TCGA-4N-A93T-01 COSM5081303 c.251A>C p.K84T Substitution - Missense 17:82464429-82464429 + CSCC-27-T COSM986136 c.453C>T p.F151F Substitution - coding silent 17:82472631-82472631 + ZZUFHECRKL-G045T COSM5437818 c.253-5T>C p.? Unknown 17:82468759-82468759 + TCGA-CA-6717-01 COSM1387511 c.355A>G p.R119G Substitution - Missense 17:82468866-82468866 + 3101B7_032_T COSM5043057 c.565G>T p.A189S Substitution - Missense 17:82478844-82478844 + HCC69 COSM1611025 c.904G>C p.G302R Substitution - Missense 17:82483301-82483301 + TCGA-A6-6781-01 COSM1387510 c.291T>G p.S97S Substitution - coding silent 17:82468802-82468802 + TCGA-BS-A0UF-01 COSM987713 c.452C>A p.S151Y Substitution - Missense 18:32124736-32124736 + DN110DB COSM1387514 c.1147G>A p.G383R Substitution - Missense 17:82485534-82485534 + CPCG0103-P1 COSM3396287 c.886G>C p.D296H Substitution - Missense 17:82483283-82483283 + ESO-0292 COSM1241467 c.467G>A p.R156H Substitution - Missense 17:82472645-82472645 + LUAD_E01147 COSM390531 c.430A>G p.I144V Substitution - Missense 17:82472608-82472608 + sysucc-1512T COSM5450737 c.458G>A p.R153H Substitution - Missense 17:82472636-82472636 + 2492721 COSM5722708 c.1186C>T p.R396* Substitution - Nonsense 17:82485573-82485573 + TCGA-BS-A0UF-01 COSM986136 c.453C>T p.F151F Substitution - coding silent 17:82472631-82472631 + 587376 COSM1223897 c.434A>G p.Y145C Substitution - Missense 18:32123559-32123559 + TCGA-UC-A7PF-01 COSM4830376 c.1271G>A p.C424Y Substitution - Missense 17:82487919-82487919 + CHC1191T COSM4799676 c.1450C>A p.L484M Substitution - Missense 17:82488098-82488098 + 1 COSM1162296 c.1418A>G p.E473G Substitution - Missense 17:82488066-82488066 + EGC15 COSM5055900 c.619G>T p.D207Y Substitution - Missense 17:82478898-82478898 + SW48 COSM2806861 c.1181G>A p.G394D Substitution - Missense 17:82485568-82485568 + PD7304a COSM1387514 c.1147G>A p.G383R Substitution - Missense 17:82485534-82485534 + OLID15 COSM132761 c.683A>G p.D228G Substitution - Missense 18:32129132-32129132 + DLD1 COSM2809779 c.151G>A p.G51R Substitution - Missense 18:32111794-32111794 + MZ7-mel COSM26314 c.219C>T p.A73A Substitution - coding silent 17:82464397-82464397 + 2492725 COSM3523868 c.627C>T p.F209F Substitution - coding silent 17:82478906-82478906 + TCGA-BR-6452-01 COSM4070918 c.969T>G p.T323T Substitution - coding silent 17:82483777-82483777 + TCGA-BG-A0MQ-01 COSM986140 c.1132A>G p.T378A Substitution - Missense 17:82485519-82485519 + TCGA-EE-A2MR-06 COSM3523870 c.1315G>A p.D439N Substitution - Missense 17:82487963-82487963 + SNUH_G22_S1 COSM1162296 c.1418A>G p.E473G Substitution - Missense 17:82488066-82488066 + TCGA-12-0707 COSM2154374 c.1356C>G p.D452E Substitution - Missense 17:82488004-82488004 + PT32 COSM5907698 c.640-6C>T p.? Unknown 17:82481076-82481076 + S02246 COSM5678919 c.1331G>C p.R444P Substitution - Missense 17:82487979-82487979 + ME009T COSM223935 c.719C>T p.S240F Substitution - Missense 18:32129168-32129168 + HCC98 COSM1611177 c.392+8A>G p.? Unknown 18:32113868-32113868 + Pat_41_B COSM5854086 c.641G>A p.R214K Substitution - Missense 18:32126772-32126772 + TCGA-BR-8487-01 COSM4071830 c.300T>C p.H100H Substitution - coding silent 18:32113768-32113768 + TCGA-B5-A11E-01 COSM986138 c.633A>C p.R211S Substitution - Missense 17:82478912-82478912 + LUAD-CHTN-MAD06-00668 COSM359190 c.564A>G p.T188T Substitution - coding silent 18:32126695-32126695 + TCGA-BP-4761-01 COSM3362418 c.394T>A p.Y132N Substitution - Missense 17:82472572-82472572 + 18472 COSM5614546 c.293T>C p.M98T Substitution - Missense 18:32113761-32113761 + TCGA-66-2781-01 COSM708579 c.39G>T p.K13N Substitution - Missense 17:82460003-82460003 + 587316 COSM1180858 c.670-8_670-7insT p.? Unknown 18:32129111-32129112 + TCGA-EE-A3JE-06 COSM3890712 c.1330C>T p.R444W Substitution - Missense 17:82487978-82487978 + pfg127T COSM291725 c.457C>T p.R153C Substitution - Missense 17:82472635-82472635 + TCGA-HU-A4GU-01 COSM4070916 c.278T>C p.V93A Substitution - Missense 17:82468789-82468789 + 1_PRE-TREATMENT COSM1719614 c.1091T>A p.V364D Substitution - Missense 17:82484932-82484932 + TCGA-B5-A11Y-01 COSM986137 c.466C>T p.R156C Substitution - Missense 17:82472644-82472644 + CHEWS032 COSM4580270 c.507C>T p.T169T Substitution - coding silent 17:82472685-82472685 + STC263 COSM1324629 c.707C>T p.A236V Substitution - Missense 18:32129156-32129156 + 35T COSM3712485 c.1268G>T p.G423V Substitution - Missense 17:82487916-82487916 + TCGA-BR-6452-01 COSM4070920 c.1176C>A p.A392A Substitution - coding silent 17:82485563-82485563 + MO_1014 COSM5137179 c.172C>T p.R58C Substitution - Missense 18:32111815-32111815 + PR-02-2480 COSM245927 c.1031A>G p.H344R Substitution - Missense 17:82484872-82484872 + TCGA-BR-8680-01 COSM4070919 c.1174G>A p.A392T Substitution - Missense 17:82485561-82485561 + PTC-14C COSM4130862 c.783G>T p.A261A Substitution - coding silent 17:82483180-82483180 + ESCC_11 COSM1162296 c.1418A>G p.E473G Substitution - Missense 17:82488066-82488066 + 30147 COSM5043761 c.521-2A>C p.? Unknown 17:82478798-82478798 + CHC1191T COSM4799676 c.1450C>A p.L484M Substitution - Missense 17:82488098-82488098 + CHC304T COSM4788474 c.204T>C p.C68C Substitution - coding silent 18:32111847-32111847 + PTC-14C COSM4130955 c.337G>T p.G113C Substitution - Missense 18:32113805-32113805 + TCGA-D1-A174-01 COSM986139 c.748G>A p.A250T Substitution - Missense 17:82481190-82481190 + TCGA-AA-A010-01 COSM284615 c.369C>A p.I123I Substitution - coding silent 18:32113837-32113837 + TCGA-AZ-4616-01 COSM5140197 c.725A>G p.Q242R Substitution - Missense 18:32129174-32129174 + RK308_C01 COSM3742525 c.261T>C p.D87D Substitution - coding silent 17:82468772-82468772 + 2492723 COSM5722708 c.1186C>T p.R396* Substitution - Nonsense 17:82485573-82485573 + TCGA-CJ-6030-01 COSM473573 c.1197G>T p.Q399H Substitution - Missense 17:82485584-82485584 + ESO-077 COSM1258710 c.1099C>T p.R367* Substitution - Nonsense 17:82484940-82484940 + 2492724 COSM3523868 c.627C>T p.F209F Substitution - coding silent 17:82478906-82478906 + TCGA-CF-A1HR-01 COSM417908 c.709C>T p.Q237* Substitution - Nonsense 17:82481151-82481151 + HCT15 COSM2809779 c.151G>A p.G51R Substitution - Missense 18:32111794-32111794 + TCGA-AA-3521-01 COSM291725 c.457C>T p.R153C Substitution - Missense 17:82472635-82472635 + H838 COSM1193098 c.1004G>A p.R335H Substitution - Missense 17:82484845-82484845 + CHC432T COSM4953883 c.235G>C p.V79L Substitution - Missense 17:82464413-82464413 + ESCC_61 COSM5632885 c.925A>G p.M309V Substitution - Missense 17:82483733-82483733 + T3225 COSM4721985 c.27G>A p.T9T Substitution - coding silent 18:32092803-32092803 + HCC99 COSM3717793 c.525G>C p.W175C Substitution - Missense 17:82478804-82478804 + TCGA-E2-A10C-01 COSM437836 c.910G>A p.E304K Substitution - Missense 17:82483718-82483718 + SA224 COSM212541 c.208G>C p.E70Q Substitution - Missense 18:32111851-32111851 + D28 COSM3890712 c.1330C>T p.R444W Substitution - Missense 17:82487978-82487978 + LOVO COSM1241467 c.467G>A p.R156H Substitution - Missense 17:82472645-82472645 + 18T COSM3712484 c.642C>A p.N214K Substitution - Missense 17:82481084-82481084 + TCGA-BR-8361-01 COSM1216638 c.1001C>T p.T334M Substitution - Missense 17:82484842-82484842 + CAL33 COSM1162296 c.1418A>G p.E473G Substitution - Missense 17:82488066-82488066 + TCGA-EI-6917-01 COSM3422127 c.641G>T p.R214I Substitution - Missense 18:32126772-32126772 + SNU-283 COSM2806842 c.333C>T p.N111N Substitution - coding silent 17:82468844-82468844 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.256526 17q25.3 605349 2425611|CGAP|BC000438|C/T|coding|Arg335Arg|1111|Validated; 2425611|CGAP|BC016440|C/T|coding|Arg241Arg|749|Validated Hs.302383;Hs.302408 18q12.1 2400865|CGAP|BC018107|C/T|coding|Thr231Thr|791|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.H290R c.869A>G 17 80442724 LUSC A G Missense p.T332A c.994A>G 17 80443395 UCEC C A Missense p.D389E c.1167C>A 17 80445829 LUAD C A Missense p.Q445K c.1333C>A 17 80445995 LUSC C A Synonymous p.R248R c.742C>A 17 80439060 PRAD C G Missense p.R321G c.961C>G 17 80442816 CM C G Synonymous p.L121L c.363C>G 17 80426750 CM C T Missense p.A27V c.80C>T 17 80417920 LUAD C T Missense p.L82F c.244C>T 17 80422298 CM C T Missense p.R153C c.457C>T 17 80430511 COREAD C T Missense p.R156C c.466C>T 17 80430520 UCEC C T Missense p.R398W c.1192C>T 17 80445854 CM C T Missense p.S196F c.587C>T 17 80436742 LUAD C T Missense p.S295L c.884C>T 17 80442739 CM C T Nonsense p.Q237* c.709C>T 17 80439027 BLCA C T Nonsense p.R321* c.961C>T 17 80442816 ESCA C T Synonymous p.F151F c.453C>T 17 80430507 CM C T Synonymous p.F209F c.627C>T 17 80436782 CM C T Synonymous p.Y178Y c.534C>T 17 80436689 RCCC - GA Frameshift p.Q445Dfs*46 c.1332_1333insGA 17 80445994 OV G A Missense p.A250T c.748G>A 17 80439066 UCEC G A Missense p.G65R c.193G>A 17 80422247 BRCA G C Missense p.G129R c.385G>C 17 80426772 BLCA G T Missense p.K13N c.39G>T 17 80417879 LUSC G T Missense p.Q353H c.1059G>T 17 80443460 RCCC G T Missense p.W456L c.1367G>T 17 80446029 HNSC G T Nonsense p.E146* c.436G>T 17 80430490 SCLC G T Nonsense p.E238* c.712G>T 17 80439030 OV G T SpliceAcceptorSNV . c.521-1G>T 17 80436675 LUAD T A Missense p.Y132N c.394T>A 17 80430448 RCCC A G Missense p.T142A c.424A>G 18 29703512 LUSC A T Missense p.Q232L c.695A>T 18 29709107 BRCA C G Missense p.H36Q c.108C>G 18 29672847 LUAD C G Missense p.S104C c.311C>G 18 29693742 LUSC C G Missense p.S240C c.719C>G 18 29709131 LUAD C T Missense p.S240F c.719C>T 18 29709131 CM C T Synonymous p.F207F c.621C>T 18 29706715 CM G A Missense p.A52T c.154G>A 18 29691760 UCEC G A Missense p.R58H c.173G>A 18 29691779 BRCA G C Missense p.E70Q c.208G>C 18 29691814 BRCA G T Missense p.G198V c.593G>T 18 29706687 LUAD G T Nonsense p.E239* c.715G>T 18 29709127 UCEC T C Missense p.M98T c.293T>C 18 29693724 NSCLC