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 12 125396365 125396365 + Silent SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 g.chr12:125396365C>T c.813G>A c.(811-813)ttG>ttA p.L271L BLCA 12 125396369 125396369 + Missense_Mutation SNP C C T TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr12:125396369C>T c.809G>A c.(808-810)aGg>aAg p.R270K BLCA 12 125396371 125396371 + Missense_Mutation SNP C C A TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr12:125396371C>A c.807G>T c.(805-807)caG>caT p.Q269H BLCA 12 125396470 125396470 + Silent SNP C C T TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr12:125396470C>T c.708G>A c.(706-708)ctG>ctA p.L236L BLCA 12 125397084 125397084 + Missense_Mutation SNP C C G TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr12:125397084C>G c.1234G>C c.(1234-1236)Gac>Cac p.D412H BLCA 12 125397084 125397084 + Missense_Mutation SNP C C T TCGA-UY-A78O-01A-12D-A339-08 TCGA-UY-A78O-10A-01D-A339-08 g.chr12:125397084C>T c.1234G>A c.(1234-1236)Gac>Aac p.D412N BLCA 12 125397100 125397100 + Silent SNP G G C TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr12:125397100G>C c.1218C>G c.(1216-1218)gtC>gtG p.V406V BLCA 12 125397108 125397108 + Missense_Mutation SNP C C T TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr12:125397108C>T c.1210G>A c.(1210-1212)Gag>Aag p.E404K BLCA 12 125397126 125397126 + Missense_Mutation SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr12:125397126C>G c.1192G>C c.(1192-1194)Gag>Cag p.E398Q BLCA 12 125397183 125397183 + Missense_Mutation SNP C C A TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 g.chr12:125397183C>A c.1135G>T c.(1135-1137)Ggt>Tgt p.G379C BLCA 12 125397652 125397652 + Silent SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V BLCA 12 125397692 125397692 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr12:125397692G>A c.626C>T c.(625-627)tCt>tTt p.S209F BLCA 12 125398075 125398075 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:125398075C>T c.243G>A c.(241-243)gtG>gtA p.V81V BRCA 12 125396335 125396337 + In_Frame_Del DEL TCC TCC - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 g.chr12:125396335_125396337delTCC c.841_843delGGA c.(841-843)ggadel p.G281del BRCA 12 125396469 125396469 + Missense_Mutation SNP T T G TCGA-AN-A03Y-01A-21W-A019-09 TCGA-AN-A03Y-10A-01W-A021-09 g.chr12:125396469T>G c.709A>C c.(709-711)Act>Cct p.T237P BRCA 12 125396630 125396631 + Frame_Shift_Ins INS - - G TCGA-AR-A24N-01A-11D-A167-09 TCGA-AR-A24N-10A-01D-A167-09 g.chr12:125396630_125396631insG c.547_548insC c.(547-549)caafs p.Q183fs BRCA 12 125396685 125396686 + Frame_Shift_Ins INS - - G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 g.chr12:125396685_125396686insG c.492_493insC c.(490-495)accatcfs p.I165fs BRCA 12 125396731 125396731 + Silent SNP A A G TCGA-E2-A15K-01A-11D-A12Q-09 TCGA-E2-A15K-11A-13D-A12Q-09 g.chr12:125396731A>G c.1587T>C c.(1585-1587)ctT>ctC p.L529L BRCA 12 125396964 125396964 + Missense_Mutation SNP G G A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 g.chr12:125396964G>A c.1354C>T c.(1354-1356)Cgt>Tgt p.R452C BRCA 12 125397061 125397061 + Silent SNP G G A TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr12:125397061G>A c.1257C>T c.(1255-1257)gaC>gaT p.D419D BRCA 12 125397063 125397063 + Missense_Mutation SNP C C A TCGA-A2-A0SU-01A-11D-A099-09 TCGA-A2-A0SU-10A-01D-A099-09 g.chr12:125397063C>A c.1255G>T c.(1255-1257)Gac>Tac p.D419Y BRCA 12 125397185 125397185 + Missense_Mutation SNP C C G TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr12:125397185C>G c.1133G>C c.(1132-1134)aGa>aCa p.R378T BRCA 12 125397236 125397236 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:125397236G>C c.1082C>G c.(1081-1083)tCt>tGt p.S361C BRCA 12 125397364 125397364 + Silent SNP A A G TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr12:125397364A>G c.954T>C c.(952-954)acT>acC p.T318T BRCA 12 125397564 125397564 + Missense_Mutation SNP C C G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 g.chr12:125397564C>G c.754G>C c.(754-756)Gag>Cag p.E252Q BRCA 12 125397588 125397588 + Missense_Mutation SNP C C G TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 g.chr12:125397588C>G c.730G>C c.(730-732)Gag>Cag p.E244Q BRCA 12 125397945 125397945 + Missense_Mutation SNP G G C TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 g.chr12:125397945G>C c.373C>G c.(373-375)Cag>Gag p.Q125E BRCA 12 125397950 125397950 + Missense_Mutation SNP C C G TCGA-B6-A0WZ-01A-11D-A10G-09 TCGA-B6-A0WZ-10A-01D-A10G-09 g.chr12:125397950C>G c.368G>C c.(367-369)gGa>gCa p.G123A BRCA 12 125398030 125398030 + Silent SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr12:125398030A>G c.288T>C c.(286-288)agT>agC p.S96S CESC 12 125396263 125396263 + Silent SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr12:125396263G>C c.915C>G c.(913-915)gtC>gtG p.V305V CESC 12 125396452 125396452 + Silent SNP G G T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr12:125396452G>T c.726C>A c.(724-726)acC>acA p.T242T CESC 12 125396957 125396957 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr12:125396957C>G c.1361G>C c.(1360-1362)aGa>aCa p.R454T CESC 12 125397061 125397061 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr12:125397061G>A c.1257C>T c.(1255-1257)gaC>gaT p.D419D CESC 12 125398044 125398044 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr12:125398044C>G c.274G>C c.(274-276)Gag>Cag p.E92Q COAD 12 125396267 125396267 + Frame_Shift_Del DEL C C - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:125396267delC c.911delG c.(910-912)ggtfs p.G304fs COAD 12 125397694 125397694 + Silent SNP C C T TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr12:125397694C>T c.624G>A c.(622-624)ctG>ctA p.L208L COAD 12 125397696 125397696 + Missense_Mutation SNP G G T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr12:125397696G>T c.622C>A c.(622-624)Ctg>Atg p.L208M COAD 12 125397696 125397696 + Missense_Mutation SNP G G T TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr12:125397696G>T c.622C>A c.(622-624)Ctg>Atg p.L208M COAD 12 125398021 125398021 + Silent SNP G G A TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr12:125398021G>A c.297C>T c.(295-297)atC>atT p.I99I COAD 12 125398024 125398024 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:125398024G>A c.294C>T c.(292-294)acC>acT p.T98T COAD 12 125398162 125398162 + Silent SNP A A G TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr12:125398162A>G c.156T>C c.(154-156)gaT>gaC p.D52D COAD 12 125398163 125398163 + Missense_Mutation SNP T T C TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr12:125398163T>C c.155A>G c.(154-156)gAt>gGt p.D52G COAD 12 125398309 125398309 + Silent SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:125398309G>T c.9C>A c.(7-9)atC>atA p.I3I COADREAD 12 125396267 125396267 + Frame_Shift_Del DEL C C - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:125396267delC c.911delG c.(910-912)ggtfs p.G304fs COADREAD 12 125397694 125397694 + Silent SNP C C T TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr12:125397694C>T c.624G>A c.(622-624)ctG>ctA p.L208L COADREAD 12 125397696 125397696 + Missense_Mutation SNP G G T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr12:125397696G>T c.622C>A c.(622-624)Ctg>Atg p.L208M COADREAD 12 125397696 125397696 + Missense_Mutation SNP G G T TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr12:125397696G>T c.622C>A c.(622-624)Ctg>Atg p.L208M COADREAD 12 125397696 125397696 + Missense_Mutation SNP G G T TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr12:125397696G>T c.622C>A c.(622-624)Ctg>Atg p.L208M COADREAD 12 125398021 125398021 + Silent SNP G G A TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr12:125398021G>A c.297C>T c.(295-297)atC>atT p.I99I COADREAD 12 125398024 125398024 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:125398024G>A c.294C>T c.(292-294)acC>acT p.T98T COADREAD 12 125398162 125398162 + Silent SNP A A G TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr12:125398162A>G c.156T>C c.(154-156)gaT>gaC p.D52D COADREAD 12 125398163 125398163 + Missense_Mutation SNP T T C TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr12:125398163T>C c.155A>G c.(154-156)gAt>gGt p.D52G COADREAD 12 125398309 125398309 + Silent SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:125398309G>T c.9C>A c.(7-9)atC>atA p.I3I ESCA 12 125396398 125396398 + Silent SNP A A G TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 g.chr12:125396398A>G c.780T>C c.(778-780)gaT>gaC p.D260D ESCA 12 125397207 125397207 + Silent SNP A A G TCGA-IG-A50L-01A-11D-A27G-09 TCGA-IG-A50L-10A-01D-A27G-09 g.chr12:125397207A>G c.1111T>C c.(1111-1113)Ttg>Ctg p.L371L GBM 12 125397201 125397201 + Missense_Mutation SNP G G T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 g.chr12:125397201G>T c.1117C>A c.(1117-1119)Ctg>Atg p.L373M GBM 12 125397269 125397269 + Missense_Mutation SNP G G A TCGA-06-5411-01A-01D-1696-08 TCGA-06-5411-10A-01D-1696-08 g.chr12:125397269G>A c.1049C>T c.(1048-1050)gCc>gTc p.A350V GBMLGG 12 125396346 125396346 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:125396346G>T c.832C>A c.(832-834)Ctg>Atg p.L278M GBMLGG 12 125397147 125397147 + Missense_Mutation SNP T T C TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr12:125397147T>C c.1171A>G c.(1171-1173)Aag>Gag p.K391E GBMLGG 12 125397201 125397201 + Missense_Mutation SNP G G T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 g.chr12:125397201G>T c.1117C>A c.(1117-1119)Ctg>Atg p.L373M GBMLGG 12 125397211 125397211 + Silent SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 g.chr12:125397211G>A c.1107C>T c.(1105-1107)tcC>tcT p.S369S GBMLGG 12 125397269 125397269 + Missense_Mutation SNP G G A TCGA-06-5411-01A-01D-1696-08 TCGA-06-5411-10A-01D-1696-08 g.chr12:125397269G>A c.1049C>T c.(1048-1050)gCc>gTc p.A350V GBMLGG 12 125397435 125397435 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:125397435G>T c.883C>A c.(883-885)Ctg>Atg p.L295M GBMLGG 12 125397652 125397652 + Silent SNP T T C TCGA-S9-A6TV-01A-12D-A34J-08 TCGA-S9-A6TV-10B-01D-A34M-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V GBMLGG 12 125397663 125397663 + Silent SNP A A G TCGA-S9-A6WN-01A-12D-A33T-08 TCGA-S9-A6WN-10A-01D-A33W-08 g.chr12:125397663A>G c.655T>C c.(655-657)Ttg>Ctg p.L219L GBMLGG 12 125397725 125397725 + Missense_Mutation SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 g.chr12:125397725G>A c.593C>T c.(592-594)gCc>gTc p.A198V GBMLGG 12 125398158 125398158 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:125398158G>A c.160C>T c.(160-162)Cgc>Tgc p.R54C HNSC 12 125396269 125396269 + Silent SNP C C G TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr12:125396269C>G c.909G>C c.(907-909)ggG>ggC p.G303G HNSC 12 125397148 125397148 + Silent SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr12:125397148A>G c.1170T>C c.(1168-1170)ggT>ggC p.G390G HNSC 12 125397154 125397154 + Silent SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr12:125397154C>G c.1164G>C c.(1162-1164)ctG>ctC p.L388L HNSC 12 125397265 125397265 + Silent SNP T T C TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr12:125397265T>C c.1053A>G c.(1051-1053)ggA>ggG p.G351G HNSC 12 125397539 125397539 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:125397539T>C c.779A>G c.(778-780)gAc>gGc p.D260G HNSC 12 125397588 125397588 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr12:125397588C>G c.730G>C c.(730-732)Gag>Cag p.E244Q HNSC 12 125397652 125397652 + Silent SNP T T C TCGA-H7-A6C4-01A-11D-A30E-08 TCGA-H7-A6C4-10A-01D-A30H-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V HNSC 12 125397805 125397805 + Silent SNP G G C TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 g.chr12:125397805G>C c.513C>G c.(511-513)ccC>ccG p.P171P HNSC 12 125397963 125397963 + Silent SNP A A G TCGA-CN-A6V7-01A-12D-A34J-08 TCGA-CN-A6V7-10A-01D-A34M-08 g.chr12:125397963A>G c.355T>C c.(355-357)Ttg>Ctg p.L119L HNSC 12 125397967 125397967 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr12:125397967C>G c.351G>C c.(349-351)caG>caC p.Q117H HNSC 12 125397972 125397972 + Nonsense_Mutation SNP G G A TCGA-CQ-6225-01A-11D-1912-08 TCGA-CQ-6225-10A-01D-1912-08 g.chr12:125397972G>A c.346C>T c.(346-348)Cag>Tag p.Q116* HNSC 12 125398024 125398024 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 g.chr12:125398024G>A c.294C>T c.(292-294)acC>acT p.T98T HNSC 12 125398224 125398224 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr12:125398224C>G c.94G>C c.(94-96)Gat>Cat p.D32H KICH 12 125396280 125396280 + Missense_Mutation SNP G G A TCGA-KL-8340-01A-11D-2310-10 TCGA-KL-8340-11A-01D-2310-10 g.chr12:125396280G>A c.898C>T c.(898-900)Cgc>Tgc p.R300C KICH 12 125397895 125397895 + Silent SNP A A G TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr12:125397895A>G c.423T>C c.(421-423)tcT>tcC p.S141S KIPAN 12 125396280 125396280 + Missense_Mutation SNP G G A TCGA-KL-8340-01A-11D-2310-10 TCGA-KL-8340-11A-01D-2310-10 g.chr12:125396280G>A c.898C>T c.(898-900)Cgc>Tgc p.R300C KIPAN 12 125397153 125397153 + Missense_Mutation SNP T T C TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr12:125397153T>C c.1165A>G c.(1165-1167)Act>Gct p.T389A KIPAN 12 125397821 125397821 + Missense_Mutation SNP G G A TCGA-A4-A772-01A-11D-A33Q-10 TCGA-A4-A772-10A-01D-A33Q-10 g.chr12:125397821G>A c.497C>T c.(496-498)aCc>aTc p.T166I KIPAN 12 125397895 125397895 + Silent SNP A A G TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr12:125397895A>G c.423T>C c.(421-423)tcT>tcC p.S141S KIPAN 12 125398050 125398052 + In_Frame_Del DEL TGA TGA - TCGA-B0-5710-01A-11D-1669-08 TCGA-B0-5710-11A-01D-1669-08 g.chr12:125398050_125398052delTGA c.266_268delTCA c.(265-270)atcacc>acc p.I89del KIPAN 12 125398244 125398244 + Missense_Mutation SNP T T C TCGA-Y8-A8RZ-01A-11D-A36X-10 TCGA-Y8-A8RZ-10A-01D-A370-10 g.chr12:125398244T>C c.74A>G c.(73-75)aAt>aGt p.N25S KIPAN 12 125398295 125398296 + Frame_Shift_Del DEL AG AG - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 g.chr12:125398295_125398296delAG c.22_23delCT c.(22-24)ctgfs p.L8fs KIRC 12 125397153 125397153 + Missense_Mutation SNP T T C TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr12:125397153T>C c.1165A>G c.(1165-1167)Act>Gct p.T389A KIRC 12 125398050 125398052 + In_Frame_Del DEL TGA TGA - TCGA-B0-5710-01A-11D-1669-08 TCGA-B0-5710-11A-01D-1669-08 g.chr12:125398050_125398052delTGA c.266_268delTCA c.(265-270)atcacc>acc p.I89del KIRC 12 125398295 125398296 + Frame_Shift_Del DEL AG AG - TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 g.chr12:125398295_125398296delAG c.22_23delCT c.(22-24)ctgfs p.L8fs KIRP 12 125397821 125397821 + Missense_Mutation SNP G G A TCGA-A4-A772-01A-11D-A33Q-10 TCGA-A4-A772-10A-01D-A33Q-10 g.chr12:125397821G>A c.497C>T c.(496-498)aCc>aTc p.T166I KIRP 12 125398244 125398244 + Missense_Mutation SNP T T C TCGA-Y8-A8RZ-01A-11D-A36X-10 TCGA-Y8-A8RZ-10A-01D-A370-10 g.chr12:125398244T>C c.74A>G c.(73-75)aAt>aGt p.N25S LGG 12 125396346 125396346 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:125396346G>T c.832C>A c.(832-834)Ctg>Atg p.L278M LGG 12 125397147 125397147 + Missense_Mutation SNP T T C TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr12:125397147T>C c.1171A>G c.(1171-1173)Aag>Gag p.K391E LGG 12 125397211 125397211 + Silent SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 g.chr12:125397211G>A c.1107C>T c.(1105-1107)tcC>tcT p.S369S LGG 12 125397435 125397435 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:125397435G>T c.883C>A c.(883-885)Ctg>Atg p.L295M LGG 12 125397652 125397652 + Silent SNP T T C TCGA-S9-A6TV-01A-12D-A34J-08 TCGA-S9-A6TV-10B-01D-A34M-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V LGG 12 125397663 125397663 + Silent SNP A A G TCGA-S9-A6WN-01A-12D-A33T-08 TCGA-S9-A6WN-10A-01D-A33W-08 g.chr12:125397663A>G c.655T>C c.(655-657)Ttg>Ctg p.L219L LGG 12 125397725 125397725 + Missense_Mutation SNP G G A TCGA-P5-A72Z-01A-11D-A32B-08 TCGA-P5-A72Z-10A-01D-A329-08 g.chr12:125397725G>A c.593C>T c.(592-594)gCc>gTc p.A198V LGG 12 125398158 125398158 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:125398158G>A c.160C>T c.(160-162)Cgc>Tgc p.R54C LIHC 12 125397123 125397123 + Missense_Mutation SNP G G A TCGA-CC-A7IF-01A-11D-A33K-10 TCGA-CC-A7IF-10A-01D-A33K-10 g.chr12:125397123G>A c.1195C>T c.(1195-1197)Ccg>Tcg p.P399S LIHC 12 125397157 125397157 + Silent SNP G G A TCGA-LG-A9QD-01A-11D-A382-10 TCGA-LG-A9QD-10A-01D-A385-10 g.chr12:125397157G>A c.1161C>T c.(1159-1161)acC>acT p.T387T LIHC 12 125397889 125397889 + Silent SNP C C A TCGA-DD-AAW0-01A-11D-A40R-10 TCGA-DD-AAW0-10A-01D-A40U-10 g.chr12:125397889C>A c.429G>T c.(427-429)ctG>ctT p.L143L LUAD 12 125396341 125396341 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr12:125396341T>A c.837A>T c.(835-837)gaA>gaT p.E279D LUAD 12 125396436 125396437 + Frame_Shift_Ins INS - - G TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr12:125396436_125396437insG c.741_742insC c.(739-744)cccagtfs p.S248fs LUAD 12 125397084 125397084 + Missense_Mutation SNP C C T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr12:125397084C>T c.1234G>A c.(1234-1236)Gac>Aac p.D412N LUAD 12 125397091 125397091 + Missense_Mutation SNP C C G TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr12:125397091C>G c.1227G>C c.(1225-1227)aaG>aaC p.K409N LUAD 12 125397132 125397132 + Missense_Mutation SNP C C G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr12:125397132C>G c.1186G>C c.(1186-1188)Gag>Cag p.E396Q LUAD 12 125397145 125397145 + Missense_Mutation SNP C C G TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr12:125397145C>G c.1173G>C c.(1171-1173)aaG>aaC p.K391N LUAD 12 125397269 125397269 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 g.chr12:125397269G>A c.1049C>T c.(1048-1050)gCc>gTc p.A350V LUAD 12 125397360 125397360 + Nonsense_Mutation SNP C C A TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr12:125397360C>A c.958G>T c.(958-960)Gaa>Taa p.E320* LUAD 12 125397413 125397414 + Frame_Shift_Ins INS - - T TCGA-78-7149-01A-11D-2036-08 TCGA-78-7149-10A-01D-2036-08 g.chr12:125397413_125397414insT c.904_905insA c.(904-906)agafs p.R302fs LUAD 12 125397415 125397415 + Silent SNP G G A TCGA-62-8402-01A-11D-2323-08 TCGA-62-8402-10A-01D-2323-08 g.chr12:125397415G>A c.903C>T c.(901-903)ctC>ctT p.L301L LUAD 12 125397454 125397454 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr12:125397454G>A c.864C>T c.(862-864)aaC>aaT p.N288N LUAD 12 125397469 125397469 + Silent SNP G G A TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr12:125397469G>A c.849C>T c.(847-849)acC>acT p.T283T LUAD 12 125397791 125397791 + Missense_Mutation SNP T T G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 g.chr12:125397791T>G c.527A>C c.(526-528)gAg>gCg p.E176A LUAD 12 125397809 125397810 + In_Frame_Ins INS - - CCA TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 g.chr12:125397809_125397810insCCA c.508_509insTGG c.(508-510)gag>gTGGag p.169_170insV LUAD 12 125397905 125397905 + Missense_Mutation SNP T T C TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr12:125397905T>C c.413A>G c.(412-414)cAg>cGg p.Q138R LUAD 12 125397907 125397907 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr12:125397907G>C c.411C>G c.(409-411)atC>atG p.I137M LUAD 12 125397990 125397990 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr12:125397990C>T c.328G>A c.(328-330)Gaa>Aaa p.E110K LUAD 12 125398153 125398153 + Silent SNP G G A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr12:125398153G>A c.165C>T c.(163-165)acC>acT p.T55T LUSC 12 125397618 125397618 + Missense_Mutation SNP T T C TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 g.chr12:125397618T>C c.700A>G c.(700-702)Aag>Gag p.K234E LUSC 12 125397880 125397880 + Silent SNP C C A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr12:125397880C>A c.438G>T c.(436-438)gtG>gtT p.V146V OV 12 125397696 125397696 + Missense_Mutation SNP G G C TCGA-59-2363-01A-01W-0799-08 TCGA-59-2363-10A-01W-0800-08 g.chr12:125397696G>C c.622C>G c.(622-624)Ctg>Gtg p.L208V OV 12 125398164 125398164 + Missense_Mutation SNP C C T TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 g.chr12:125398164C>T c.154G>A c.(154-156)Gat>Aat p.D52N PAAD 12 125397088 125397088 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:125397088G>A c.1230C>T c.(1228-1230)atC>atT p.I410I PAAD 12 125397269 125397269 + Missense_Mutation SNP G G A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr12:125397269G>A c.1049C>T c.(1048-1050)gCc>gTc p.A350V PAAD 12 125397298 125397298 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 g.chr12:125397298G>A c.1020C>T c.(1018-1020)atC>atT p.I340I PAAD 12 125397652 125397652 + Silent SNP T T C TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V PAAD 12 125397652 125397652 + Silent SNP T T C TCGA-IB-A5SO-01A-11D-A32N-08 TCGA-IB-A5SO-10A-01D-A32N-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V PAAD 12 125397652 125397652 + Silent SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V PAAD 12 125397946 125397946 + Silent SNP C C T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 g.chr12:125397946C>T c.372G>A c.(370-372)aaG>aaA p.K124K PAAD 12 125398210 125398210 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 g.chr12:125398210G>A c.108C>T c.(106-108)atC>atT p.I36I PCPG 12 125397415 125397415 + Silent SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 g.chr12:125397415G>A c.903C>T c.(901-903)ctC>ctT p.L301L PRAD 12 125397269 125397269 + Missense_Mutation SNP G G A TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 g.chr12:125397269G>A c.1049C>T c.(1048-1050)gCc>gTc p.A350V PRAD 12 125397652 125397652 + Silent SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V PRAD 12 125397652 125397652 + Silent SNP T T C TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V PRAD 12 125397652 125397652 + Silent SNP T T C TCGA-TP-A8TT-01A-12D-A41K-08 TCGA-TP-A8TT-10A-01D-A41N-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V PRAD 12 125397652 125397652 + Silent SNP T T C TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V PRAD 12 125398090 125398090 + Silent SNP C C T TCGA-CH-5740-01A-11D-1576-08 TCGA-CH-5740-10A-01D-1576-08 g.chr12:125398090C>T c.228G>A c.(226-228)ggG>ggA p.G76G READ 12 125397696 125397696 + Missense_Mutation SNP G G T TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr12:125397696G>T c.622C>A c.(622-624)Ctg>Atg p.L208M SARC 12 125396494 125396494 + Silent SNP C C T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 g.chr12:125396494C>T c.684G>A c.(682-684)ggG>ggA p.G228G SKCM 12 125396438 125396438 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:125396438G>A c.740C>T c.(739-741)cCc>cTc p.P247L SKCM 12 125396452 125396452 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr12:125396452G>A c.726C>T c.(724-726)acC>acT p.T242T SKCM 12 125396518 125396518 + Silent SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr12:125396518G>A c.660C>T c.(658-660)caC>caT p.H220H SKCM 12 125397113 125397113 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr12:125397113G>A c.1205C>T c.(1204-1206)aCc>aTc p.T402I SKCM 12 125397415 125397415 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr12:125397415G>A c.903C>T c.(901-903)ctC>ctT p.L301L SKCM 12 125397652 125397652 + Silent SNP T T C TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:125397652T>C c.666A>G c.(664-666)gtA>gtG p.V222V SKCM 12 125397794 125397794 + Frame_Shift_Del DEL A A - TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr12:125397794delA c.524delT c.(523-525)atcfs p.I175fs SKCM 12 125397805 125397805 + Silent SNP G G C TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:125397805G>C c.513C>G c.(511-513)ccC>ccG p.P171P SKCM 12 125397806 125397806 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:125397806G>A c.512C>T c.(511-513)cCc>cTc p.P171L SKCM 12 125397827 125397827 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr12:125397827G>A c.491C>T c.(490-492)aCc>aTc p.T164I SKCM 12 125397886 125397886 + Silent SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr12:125397886G>A c.432C>T c.(430-432)caC>caT p.H144H SKCM 12 125397978 125397978 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr12:125397978G>A c.340C>T c.(340-342)Cct>Tct p.P114S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 125396652 125396652 single base substitution C T downstream_gene_variant BLCA-CN 12 125396652 125396652 single base substitution C T missense_variant E176K 526G>A BLCA-CN 12 125396652 125396652 single base substitution C T missense_variant E480K 1438G>A BLCA-CN 12 125396652 125396652 single base substitution C T missense_variant E556K 1666G>A BLCA-CN 12 125396957 125396957 single base substitution C G downstream_gene_variant BLCA-CN 12 125396957 125396957 single base substitution C G intron_variant BLCA-CN 12 125396957 125396957 single base substitution C G missense_variant R378T 1133G>C BLCA-CN 12 125396957 125396957 single base substitution C G missense_variant R454T 1361G>C BLCA-CN 12 125398257 125398257 single base substitution C T exon_variant BLCA-CN 12 125398257 125398257 single base substitution C T missense_variant D21N 61G>A BLCA-US 12 125396365 125396365 single base substitution C T downstream_gene_variant BLCA-US 12 125396365 125396365 single base substitution C T synonymous_variant L271L 813G>A BLCA-US 12 125396365 125396365 single base substitution C T synonymous_variant L575L 1725G>A BLCA-US 12 125396365 125396365 single base substitution C T synonymous_variant L651L 1953G>A BLCA-US 12 125398075 125398075 single base substitution C T downstream_gene_variant BLCA-US 12 125398075 125398075 single base substitution C T exon_variant BLCA-US 12 125398075 125398075 single base substitution C T synonymous_variant V81V 243G>A BRCA-EU 12 125392060 125392060 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 125393305 125393305 single base substitution T C downstream_gene_variant BRCA-EU 12 125394596 125394596 single base substitution C G downstream_gene_variant BRCA-EU 12 125395243 125395243 single base substitution T A downstream_gene_variant BRCA-EU 12 125395340 125395340 single base substitution T G downstream_gene_variant BRCA-EU 12 125395521 125395521 single base substitution C T downstream_gene_variant BRCA-EU 12 125395659 125395659 single base substitution C T downstream_gene_variant BRCA-EU 12 125396473 125396473 single base substitution G T downstream_gene_variant BRCA-EU 12 125396473 125396473 single base substitution G T synonymous_variant T235T 705C>A BRCA-EU 12 125396473 125396473 single base substitution G T synonymous_variant T539T 1617C>A BRCA-EU 12 125396473 125396473 single base substitution G T synonymous_variant T615T 1845C>A BRCA-EU 12 125397161 125397161 single base substitution T C downstream_gene_variant BRCA-EU 12 125397161 125397161 single base substitution T C intron_variant BRCA-EU 12 125397161 125397161 single base substitution T C missense_variant K310R 929A>G BRCA-EU 12 125397161 125397161 single base substitution T C missense_variant K386R 1157A>G BRCA-EU 12 125397475 125397475 single base substitution C A downstream_gene_variant BRCA-EU 12 125397475 125397475 single base substitution C A intron_variant BRCA-EU 12 125397475 125397475 single base substitution C A synonymous_variant G205G 615G>T BRCA-EU 12 125397475 125397475 single base substitution C A synonymous_variant G281G 843G>T BRCA-EU 12 125397562 125397562 single base substitution C G downstream_gene_variant BRCA-EU 12 125397562 125397562 single base substitution C G intron_variant BRCA-EU 12 125397562 125397562 single base substitution C G missense_variant E176D 528G>C BRCA-EU 12 125397562 125397562 single base substitution C G missense_variant E252D 756G>C BRCA-EU 12 125397768 125397768 single base substitution C G downstream_gene_variant BRCA-EU 12 125397768 125397768 single base substitution C G intron_variant BRCA-EU 12 125397768 125397768 single base substitution C G missense_variant D108H 322G>C BRCA-EU 12 125397768 125397768 single base substitution C G missense_variant D184H 550G>C BRCA-EU 12 125397904 125397904 single base substitution C G downstream_gene_variant BRCA-EU 12 125397904 125397904 single base substitution C G exon_variant BRCA-EU 12 125397904 125397904 single base substitution C G intron_variant BRCA-EU 12 125397904 125397904 single base substitution C G missense_variant Q138H 414G>C BRCA-EU 12 125398555 125398555 single base substitution G A 5_prime_UTR_variant BRCA-EU 12 125398555 125398555 single base substitution G A exon_variant BRCA-EU 12 125398555 125398555 single base substitution G A intron_variant BRCA-EU 12 125398893 125398893 single base substitution T G 5_prime_UTR_variant BRCA-EU 12 125398893 125398893 single base substitution T G intron_variant BRCA-EU 12 125398893 125398893 single base substitution T G upstream_gene_variant BRCA-EU 12 125399253 125399253 single base substitution A T 5_prime_UTR_variant BRCA-EU 12 125399253 125399253 single base substitution A T exon_variant BRCA-EU 12 125399253 125399253 single base substitution A T upstream_gene_variant BRCA-EU 12 125400399 125400399 single base substitution G A intron_variant BRCA-EU 12 125400399 125400399 single base substitution G A upstream_gene_variant BRCA-EU 12 125400559 125400559 single base substitution C T intron_variant BRCA-EU 12 125400559 125400559 single base substitution C T upstream_gene_variant BRCA-EU 12 125400563 125400563 deletion of <=200bp A - intron_variant BRCA-EU 12 125400563 125400563 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 125401254 125401254 single base substitution C G intron_variant BRCA-EU 12 125401254 125401254 single base substitution C G upstream_gene_variant BRCA-EU 12 125401690 125401690 single base substitution A G intron_variant BRCA-EU 12 125401690 125401690 single base substitution A G upstream_gene_variant BRCA-EU 12 125402058 125402058 single base substitution T A upstream_gene_variant BRCA-EU 12 125402439 125402439 single base substitution G A upstream_gene_variant BRCA-EU 12 125403540 125403540 single base substitution G C upstream_gene_variant BRCA-EU 12 125404448 125404448 single base substitution C A upstream_gene_variant BRCA-EU 12 125404564 125404564 single base substitution G A upstream_gene_variant BRCA-EU 12 125405264 125405264 single base substitution A T upstream_gene_variant BRCA-EU 12 125406290 125406290 single base substitution C G upstream_gene_variant BRCA-EU 12 125406451 125406451 single base substitution C T upstream_gene_variant BRCA-FR 12 125394596 125394596 single base substitution C G downstream_gene_variant BRCA-FR 12 125395521 125395521 single base substitution C T downstream_gene_variant BRCA-FR 12 125401254 125401254 single base substitution C G intron_variant BRCA-FR 12 125401254 125401254 single base substitution C G upstream_gene_variant BRCA-FR 12 125403930 125403930 single base substitution A T upstream_gene_variant BRCA-KR 12 125397519 125397519 single base substitution C T downstream_gene_variant BRCA-KR 12 125397519 125397519 single base substitution C T intron_variant BRCA-KR 12 125397519 125397519 single base substitution C T missense_variant D191N 571G>A BRCA-KR 12 125397519 125397519 single base substitution C T missense_variant D267N 799G>A BRCA-UK 12 125397161 125397161 single base substitution T C downstream_gene_variant BRCA-UK 12 125397161 125397161 single base substitution T C intron_variant BRCA-UK 12 125397161 125397161 single base substitution T C missense_variant K310R 929A>G BRCA-UK 12 125397161 125397161 single base substitution T C missense_variant K386R 1157A>G BRCA-US 12 125396335 125396337 deletion of <=200bp TCC - downstream_gene_variant BRCA-US 12 125396335 125396337 deletion of <=200bp TCC - inframe_deletion G281 BRCA-US 12 125396335 125396337 deletion of <=200bp TCC - inframe_deletion G585 BRCA-US 12 125396335 125396337 deletion of <=200bp TCC - inframe_deletion G661 BRCA-US 12 125396469 125396469 single base substitution T G downstream_gene_variant BRCA-US 12 125396469 125396469 single base substitution T G missense_variant T237P 709A>C BRCA-US 12 125396469 125396469 single base substitution T G missense_variant T541P 1621A>C BRCA-US 12 125396469 125396469 single base substitution T G missense_variant T617P 1849A>C BRCA-US 12 125396630 125396630 insertion of <=200bp - G downstream_gene_variant BRCA-US 12 125396630 125396630 insertion of <=200bp - G frameshift_variant Q183H? BRCA-US 12 125396630 125396630 insertion of <=200bp - G frameshift_variant Q487H? BRCA-US 12 125396630 125396630 insertion of <=200bp - G frameshift_variant Q563H? BRCA-US 12 125396685 125396685 insertion of <=200bp - G downstream_gene_variant BRCA-US 12 125396685 125396685 insertion of <=200bp - G frameshift_variant I165T? BRCA-US 12 125396685 125396685 insertion of <=200bp - G frameshift_variant I469T? BRCA-US 12 125396685 125396685 insertion of <=200bp - G frameshift_variant I545T? BRCA-US 12 125396731 125396731 single base substitution A G downstream_gene_variant BRCA-US 12 125396731 125396731 single base substitution A G intron_variant BRCA-US 12 125396731 125396731 single base substitution A G synonymous_variant L453L 1359T>C BRCA-US 12 125396731 125396731 single base substitution A G synonymous_variant L529L 1587T>C BRCA-US 12 125396902 125396902 single base substitution T C downstream_gene_variant BRCA-US 12 125396902 125396902 single base substitution T C intron_variant BRCA-US 12 125396902 125396902 single base substitution T C synonymous_variant E396E 1188A>G BRCA-US 12 125396902 125396902 single base substitution T C synonymous_variant E472E 1416A>G BRCA-US 12 125396964 125396964 single base substitution G A downstream_gene_variant BRCA-US 12 125396964 125396964 single base substitution G A intron_variant BRCA-US 12 125396964 125396964 single base substitution G A missense_variant R376C 1126C>T BRCA-US 12 125396964 125396964 single base substitution G A missense_variant R452C 1354C>T BRCA-US 12 125397061 125397061 single base substitution G A downstream_gene_variant BRCA-US 12 125397061 125397061 single base substitution G A intron_variant BRCA-US 12 125397061 125397061 single base substitution G A synonymous_variant D343D 1029C>T BRCA-US 12 125397061 125397061 single base substitution G A synonymous_variant D419D 1257C>T BRCA-US 12 125397063 125397063 single base substitution C A downstream_gene_variant BRCA-US 12 125397063 125397063 single base substitution C A intron_variant BRCA-US 12 125397063 125397063 single base substitution C A missense_variant D343Y 1027G>T BRCA-US 12 125397063 125397063 single base substitution C A missense_variant D419Y 1255G>T BRCA-US 12 125397185 125397185 single base substitution C G downstream_gene_variant BRCA-US 12 125397185 125397185 single base substitution C G intron_variant BRCA-US 12 125397185 125397185 single base substitution C G missense_variant R302T 905G>C BRCA-US 12 125397185 125397185 single base substitution C G missense_variant R378T 1133G>C BRCA-US 12 125397236 125397236 single base substitution G C downstream_gene_variant BRCA-US 12 125397236 125397236 single base substitution G C intron_variant BRCA-US 12 125397236 125397236 single base substitution G C missense_variant S285C 854C>G BRCA-US 12 125397236 125397236 single base substitution G C missense_variant S361C 1082C>G BRCA-US 12 125397364 125397364 single base substitution A G downstream_gene_variant BRCA-US 12 125397364 125397364 single base substitution A G intron_variant BRCA-US 12 125397364 125397364 single base substitution A G synonymous_variant T242T 726T>C BRCA-US 12 125397364 125397364 single base substitution A G synonymous_variant T318T 954T>C BRCA-US 12 125397564 125397564 single base substitution C G downstream_gene_variant BRCA-US 12 125397564 125397564 single base substitution C G intron_variant BRCA-US 12 125397564 125397564 single base substitution C G missense_variant E176Q 526G>C BRCA-US 12 125397564 125397564 single base substitution C G missense_variant E252Q 754G>C BRCA-US 12 125397588 125397588 single base substitution C G downstream_gene_variant BRCA-US 12 125397588 125397588 single base substitution C G intron_variant BRCA-US 12 125397588 125397588 single base substitution C G missense_variant E168Q 502G>C BRCA-US 12 125397588 125397588 single base substitution C G missense_variant E244Q 730G>C BRCA-US 12 125397945 125397945 single base substitution G C downstream_gene_variant BRCA-US 12 125397945 125397945 single base substitution G C exon_variant BRCA-US 12 125397945 125397945 single base substitution G C intron_variant BRCA-US 12 125397945 125397945 single base substitution G C missense_variant Q125E 373C>G BRCA-US 12 125397950 125397950 single base substitution C G downstream_gene_variant BRCA-US 12 125397950 125397950 single base substitution C G exon_variant BRCA-US 12 125397950 125397950 single base substitution C G intron_variant BRCA-US 12 125397950 125397950 single base substitution C G missense_variant G123A 368G>C BRCA-US 12 125397950 125397950 single base substitution C G synonymous_variant ?123 BRCA-US 12 125398030 125398030 single base substitution A G downstream_gene_variant BRCA-US 12 125398030 125398030 single base substitution A G exon_variant BRCA-US 12 125398030 125398030 single base substitution A G intron_variant BRCA-US 12 125398030 125398030 single base substitution A G synonymous_variant S96S 288T>C CESC-US 12 125396263 125396263 single base substitution G C downstream_gene_variant CESC-US 12 125396263 125396263 single base substitution G C synonymous_variant V305V 915C>G CESC-US 12 125396263 125396263 single base substitution G C synonymous_variant V609V 1827C>G CESC-US 12 125396263 125396263 single base substitution G C synonymous_variant V685V 2055C>G CESC-US 12 125396452 125396452 single base substitution G T downstream_gene_variant CESC-US 12 125396452 125396452 single base substitution G T synonymous_variant T242T 726C>A CESC-US 12 125396452 125396452 single base substitution G T synonymous_variant T546T 1638C>A CESC-US 12 125396452 125396452 single base substitution G T synonymous_variant T622T 1866C>A CESC-US 12 125396957 125396957 single base substitution C G downstream_gene_variant CESC-US 12 125396957 125396957 single base substitution C G intron_variant CESC-US 12 125396957 125396957 single base substitution C G missense_variant R378T 1133G>C CESC-US 12 125396957 125396957 single base substitution C G missense_variant R454T 1361G>C CESC-US 12 125397061 125397061 single base substitution G A downstream_gene_variant CESC-US 12 125397061 125397061 single base substitution G A intron_variant CESC-US 12 125397061 125397061 single base substitution G A synonymous_variant D343D 1029C>T CESC-US 12 125397061 125397061 single base substitution G A synonymous_variant D419D 1257C>T CESC-US 12 125398044 125398044 single base substitution C G downstream_gene_variant CESC-US 12 125398044 125398044 single base substitution C G exon_variant CESC-US 12 125398044 125398044 single base substitution C G missense_variant E92Q 274G>C CLLE-ES 12 125394673 125394673 single base substitution C T downstream_gene_variant COAD-US 12 125396266 125396266 insertion of <=200bp - C downstream_gene_variant COAD-US 12 125396266 125396266 insertion of <=200bp - C frameshift_variant G304G? COAD-US 12 125396266 125396266 insertion of <=200bp - C frameshift_variant G608G? COAD-US 12 125396266 125396266 insertion of <=200bp - C frameshift_variant G684G? COAD-US 12 125396267 125396267 deletion of <=200bp C - downstream_gene_variant COAD-US 12 125396267 125396267 deletion of <=200bp C - frameshift_variant G304 COAD-US 12 125396267 125396267 deletion of <=200bp C - frameshift_variant G608 COAD-US 12 125396267 125396267 deletion of <=200bp C - frameshift_variant G684 COAD-US 12 125398024 125398024 single base substitution G A downstream_gene_variant COAD-US 12 125398024 125398024 single base substitution G A exon_variant COAD-US 12 125398024 125398024 single base substitution G A intron_variant COAD-US 12 125398024 125398024 single base substitution G A synonymous_variant T98T 294C>T COCA-CN 12 125396183 125396183 single base substitution A C 3_prime_UTR_variant COCA-CN 12 125396183 125396183 single base substitution A C downstream_gene_variant COCA-CN 12 125396185 125396185 single base substitution A C 3_prime_UTR_variant COCA-CN 12 125396185 125396185 single base substitution A C downstream_gene_variant COCA-CN 12 125396187 125396187 single base substitution A C 3_prime_UTR_variant COCA-CN 12 125396187 125396187 single base substitution A C downstream_gene_variant COCA-CN 12 125396235 125396235 single base substitution T G 3_prime_UTR_variant COCA-CN 12 125396235 125396235 single base substitution T G downstream_gene_variant COCA-CN 12 125397061 125397061 single base substitution G A downstream_gene_variant COCA-CN 12 125397061 125397061 single base substitution G A intron_variant COCA-CN 12 125397061 125397061 single base substitution G A synonymous_variant D343D 1029C>T COCA-CN 12 125397061 125397061 single base substitution G A synonymous_variant D419D 1257C>T COCA-CN 12 125397130 125397130 single base substitution C T downstream_gene_variant COCA-CN 12 125397130 125397130 single base substitution C T intron_variant COCA-CN 12 125397130 125397130 single base substitution C T synonymous_variant E320E 960G>A COCA-CN 12 125397130 125397130 single base substitution C T synonymous_variant E396E 1188G>A COCA-CN 12 125397136 125397136 single base substitution A G downstream_gene_variant COCA-CN 12 125397136 125397136 single base substitution A G intron_variant COCA-CN 12 125397136 125397136 single base substitution A G synonymous_variant T318T 954T>C COCA-CN 12 125397136 125397136 single base substitution A G synonymous_variant T394T 1182T>C COCA-CN 12 125397358 125397358 single base substitution T C downstream_gene_variant COCA-CN 12 125397358 125397358 single base substitution T C intron_variant COCA-CN 12 125397358 125397358 single base substitution T C synonymous_variant E244E 732A>G COCA-CN 12 125397358 125397358 single base substitution T C synonymous_variant E320E 960A>G COCA-CN 12 125397541 125397541 single base substitution T C downstream_gene_variant COCA-CN 12 125397541 125397541 single base substitution T C intron_variant COCA-CN 12 125397541 125397541 single base substitution T C synonymous_variant Q183Q 549A>G COCA-CN 12 125397541 125397541 single base substitution T C synonymous_variant Q259Q 777A>G COCA-CN 12 125398066 125398066 single base substitution G C downstream_gene_variant COCA-CN 12 125398066 125398066 single base substitution G C exon_variant COCA-CN 12 125398066 125398066 single base substitution G C synonymous_variant L84L 252C>G EOPC-DE 12 125398174 125398174 single base substitution T C exon_variant EOPC-DE 12 125398174 125398174 single base substitution T C synonymous_variant K48K 144A>G EOPC-DE 12 125398180 125398180 single base substitution A G exon_variant EOPC-DE 12 125398180 125398180 single base substitution A G synonymous_variant A46A 138T>C ESAD-UK 12 125391934 125391934 single base substitution A G downstream_gene_variant ESAD-UK 12 125392033 125392033 single base substitution A G downstream_gene_variant ESAD-UK 12 125394380 125394383 deletion of <=200bp TAAA - downstream_gene_variant ESAD-UK 12 125395567 125395567 insertion of <=200bp - T downstream_gene_variant ESAD-UK 12 125395785 125395785 single base substitution C A downstream_gene_variant ESAD-UK 12 125398180 125398180 single base substitution A G exon_variant ESAD-UK 12 125398180 125398180 single base substitution A G synonymous_variant A46A 138T>C ESAD-UK 12 125399444 125399444 single base substitution G T 5_prime_UTR_variant ESAD-UK 12 125399444 125399444 single base substitution G T exon_variant ESAD-UK 12 125399444 125399444 single base substitution G T intron_variant ESAD-UK 12 125399444 125399444 single base substitution G T upstream_gene_variant ESAD-UK 12 125399529 125399529 single base substitution C T 5_prime_UTR_variant ESAD-UK 12 125399529 125399529 single base substitution C T exon_variant ESAD-UK 12 125399529 125399529 single base substitution C T intron_variant ESAD-UK 12 125399529 125399529 single base substitution C T upstream_gene_variant ESAD-UK 12 125399600 125399600 single base substitution C T 5_prime_UTR_variant ESAD-UK 12 125399600 125399600 single base substitution C T intron_variant ESAD-UK 12 125399600 125399600 single base substitution C T upstream_gene_variant ESAD-UK 12 125399855 125399855 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 12 125399855 125399855 single base substitution G A intron_variant ESAD-UK 12 125399855 125399855 single base substitution G A upstream_gene_variant ESAD-UK 12 125406348 125406348 single base substitution C T upstream_gene_variant ESCA-CN 12 125398272 125398272 single base substitution C G exon_variant ESCA-CN 12 125398272 125398272 single base substitution C G missense_variant E16Q 46G>C GBM-US 12 125397201 125397201 single base substitution G T downstream_gene_variant GBM-US 12 125397201 125397201 single base substitution G T intron_variant GBM-US 12 125397201 125397201 single base substitution G T missense_variant L297M 889C>A GBM-US 12 125397201 125397201 single base substitution G T missense_variant L373M 1117C>A GBM-US 12 125397269 125397269 single base substitution G A downstream_gene_variant GBM-US 12 125397269 125397269 single base substitution G A intron_variant GBM-US 12 125397269 125397269 single base substitution G A missense_variant A274V 821C>T GBM-US 12 125397269 125397269 single base substitution G A missense_variant A350V 1049C>T KIRC-US 12 125397153 125397153 single base substitution T C downstream_gene_variant KIRC-US 12 125397153 125397153 single base substitution T C intron_variant KIRC-US 12 125397153 125397153 single base substitution T C missense_variant T313A 937A>G KIRC-US 12 125397153 125397153 single base substitution T C missense_variant T389A 1165A>G KIRC-US 12 125397187 125397187 single base substitution G A downstream_gene_variant KIRC-US 12 125397187 125397187 single base substitution G A intron_variant KIRC-US 12 125397187 125397187 single base substitution G A synonymous_variant L301L 903C>T KIRC-US 12 125397187 125397187 single base substitution G A synonymous_variant L377L 1131C>T KIRC-US 12 125398050 125398052 deletion of <=200bp TGA - disruptive_inframe_deletion IT89T KIRC-US 12 125398050 125398052 deletion of <=200bp TGA - downstream_gene_variant KIRC-US 12 125398050 125398052 deletion of <=200bp TGA - exon_variant LAML-KR 12 125396503 125396503 single base substitution G A downstream_gene_variant LAML-KR 12 125396503 125396503 single base substitution G A synonymous_variant L225L 675C>T LAML-KR 12 125396503 125396503 single base substitution G A synonymous_variant L529L 1587C>T LAML-KR 12 125396503 125396503 single base substitution G A synonymous_variant L605L 1815C>T LAML-KR 12 125396626 125396626 single base substitution G A downstream_gene_variant LAML-KR 12 125396626 125396626 single base substitution G A synonymous_variant D184D 552C>T LAML-KR 12 125396626 125396626 single base substitution G A synonymous_variant D488D 1464C>T LAML-KR 12 125396626 125396626 single base substitution G A synonymous_variant D564D 1692C>T LAML-KR 12 125397187 125397187 single base substitution G A downstream_gene_variant LAML-KR 12 125397187 125397187 single base substitution G A intron_variant LAML-KR 12 125397187 125397187 single base substitution G A synonymous_variant L301L 903C>T LAML-KR 12 125397187 125397187 single base substitution G A synonymous_variant L377L 1131C>T LAML-KR 12 125397196 125397196 single base substitution C T downstream_gene_variant LAML-KR 12 125397196 125397196 single base substitution C T intron_variant LAML-KR 12 125397196 125397196 single base substitution C T synonymous_variant V298V 894G>A LAML-KR 12 125397196 125397196 single base substitution C T synonymous_variant V374V 1122G>A LAML-KR 12 125397358 125397358 single base substitution T C downstream_gene_variant LAML-KR 12 125397358 125397358 single base substitution T C intron_variant LAML-KR 12 125397358 125397358 single base substitution T C synonymous_variant E244E 732A>G LAML-KR 12 125397358 125397358 single base substitution T C synonymous_variant E320E 960A>G LAML-KR 12 125397517 125397517 single base substitution G A downstream_gene_variant LAML-KR 12 125397517 125397517 single base substitution G A intron_variant LAML-KR 12 125397517 125397517 single base substitution G A synonymous_variant D191D 573C>T LAML-KR 12 125397517 125397517 single base substitution G A synonymous_variant D267D 801C>T LAML-KR 12 125397745 125397745 single base substitution A G downstream_gene_variant LAML-KR 12 125397745 125397745 single base substitution A G intron_variant LAML-KR 12 125397745 125397745 single base substitution A G synonymous_variant D115D 345T>C LAML-KR 12 125397745 125397745 single base substitution A G synonymous_variant D191D 573T>C LAML-KR 12 125398084 125398084 single base substitution T C downstream_gene_variant LAML-KR 12 125398084 125398084 single base substitution T C exon_variant LAML-KR 12 125398084 125398084 single base substitution T C synonymous_variant Q78Q 234A>G LAML-KR 12 125398123 125398123 single base substitution G A downstream_gene_variant LAML-KR 12 125398123 125398123 single base substitution G A exon_variant LAML-KR 12 125398123 125398123 single base substitution G A synonymous_variant S65S 195C>T LGG-US 12 125397147 125397147 single base substitution T C downstream_gene_variant LGG-US 12 125397147 125397147 single base substitution T C intron_variant LGG-US 12 125397147 125397147 single base substitution T C missense_variant K315E 943A>G LGG-US 12 125397147 125397147 single base substitution T C missense_variant K391E 1171A>G LIHC-US 12 125397123 125397123 single base substitution G A downstream_gene_variant LIHC-US 12 125397123 125397123 single base substitution G A intron_variant LIHC-US 12 125397123 125397123 single base substitution G A missense_variant P323S 967C>T LIHC-US 12 125397123 125397123 single base substitution G A missense_variant P399S 1195C>T LINC-JP 12 125391572 125391572 single base substitution A G downstream_gene_variant LIRI-JP 12 125391807 125391807 single base substitution T C downstream_gene_variant LIRI-JP 12 125394140 125394140 single base substitution T A downstream_gene_variant LIRI-JP 12 125397810 125397810 single base substitution C T downstream_gene_variant LIRI-JP 12 125397810 125397810 single base substitution C T intron_variant LIRI-JP 12 125397810 125397810 single base substitution C T missense_variant E170K 508G>A LIRI-JP 12 125397810 125397810 single base substitution C T missense_variant E94K 280G>A LIRI-JP 12 125400745 125400774 deletion of <=200bp TCCAAGATCTGTGCATTGTTCAAAACAGAC - intron_variant LIRI-JP 12 125400745 125400774 deletion of <=200bp TCCAAGATCTGTGCATTGTTCAAAACAGAC - upstream_gene_variant LIRI-JP 12 125404515 125404515 single base substitution C T upstream_gene_variant LUSC-KR 12 125394079 125394079 single base substitution T C downstream_gene_variant LUSC-KR 12 125396377 125396377 single base substitution A G downstream_gene_variant LUSC-KR 12 125396377 125396377 single base substitution A G synonymous_variant D267D 801T>C LUSC-KR 12 125396377 125396377 single base substitution A G synonymous_variant D571D 1713T>C LUSC-KR 12 125396377 125396377 single base substitution A G synonymous_variant D647D 1941T>C LUSC-KR 12 125396398 125396398 single base substitution A G downstream_gene_variant LUSC-KR 12 125396398 125396398 single base substitution A G synonymous_variant D260D 780T>C LUSC-KR 12 125396398 125396398 single base substitution A G synonymous_variant D564D 1692T>C LUSC-KR 12 125396398 125396398 single base substitution A G synonymous_variant D640D 1920T>C LUSC-KR 12 125396653 125396653 single base substitution A G downstream_gene_variant LUSC-KR 12 125396653 125396653 single base substitution A G synonymous_variant I175I 525T>C LUSC-KR 12 125396653 125396653 single base substitution A G synonymous_variant I479I 1437T>C LUSC-KR 12 125396653 125396653 single base substitution A G synonymous_variant I555I 1665T>C LUSC-KR 12 125397037 125397037 single base substitution C T downstream_gene_variant LUSC-KR 12 125397037 125397037 single base substitution C T intron_variant LUSC-KR 12 125397037 125397037 single base substitution C T synonymous_variant G351G 1053G>A LUSC-KR 12 125397037 125397037 single base substitution C T synonymous_variant G427G 1281G>A LUSC-KR 12 125397130 125397130 single base substitution C T downstream_gene_variant LUSC-KR 12 125397130 125397130 single base substitution C T intron_variant LUSC-KR 12 125397130 125397130 single base substitution C T synonymous_variant E320E 960G>A LUSC-KR 12 125397130 125397130 single base substitution C T synonymous_variant E396E 1188G>A LUSC-KR 12 125397187 125397187 single base substitution G A downstream_gene_variant LUSC-KR 12 125397187 125397187 single base substitution G A intron_variant LUSC-KR 12 125397187 125397187 single base substitution G A synonymous_variant L301L 903C>T LUSC-KR 12 125397187 125397187 single base substitution G A synonymous_variant L377L 1131C>T LUSC-KR 12 125397207 125397207 single base substitution A G downstream_gene_variant LUSC-KR 12 125397207 125397207 single base substitution A G intron_variant LUSC-KR 12 125397207 125397207 single base substitution A G synonymous_variant L295L 883T>C LUSC-KR 12 125397207 125397207 single base substitution A G synonymous_variant L371L 1111T>C LUSC-KR 12 125397289 125397289 single base substitution G A downstream_gene_variant LUSC-KR 12 125397289 125397289 single base substitution G A intron_variant LUSC-KR 12 125397289 125397289 single base substitution G A synonymous_variant D267D 801C>T LUSC-KR 12 125397289 125397289 single base substitution G A synonymous_variant D343D 1029C>T LUSC-KR 12 125397895 125397895 single base substitution A G downstream_gene_variant LUSC-KR 12 125397895 125397895 single base substitution A G intron_variant LUSC-KR 12 125397895 125397895 single base substitution A G synonymous_variant S141S 423T>C LUSC-KR 12 125398015 125398015 single base substitution G A downstream_gene_variant LUSC-KR 12 125398015 125398015 single base substitution G A exon_variant LUSC-KR 12 125398015 125398015 single base substitution G A intron_variant LUSC-KR 12 125398015 125398015 single base substitution G A synonymous_variant N101N 303C>T LUSC-KR 12 125398123 125398123 single base substitution G A downstream_gene_variant LUSC-KR 12 125398123 125398123 single base substitution G A exon_variant LUSC-KR 12 125398123 125398123 single base substitution G A synonymous_variant S65S 195C>T LUSC-KR 12 125398175 125398175 single base substitution T A exon_variant LUSC-KR 12 125398175 125398175 single base substitution T A missense_variant K48I 143A>T LUSC-KR 12 125403596 125403596 single base substitution C A upstream_gene_variant LUSC-KR 12 125406303 125406303 single base substitution G T upstream_gene_variant LUSC-US 12 125397618 125397618 single base substitution T C downstream_gene_variant LUSC-US 12 125397618 125397618 single base substitution T C intron_variant LUSC-US 12 125397618 125397618 single base substitution T C missense_variant K158E 472A>G LUSC-US 12 125397618 125397618 single base substitution T C missense_variant K234E 700A>G LUSC-US 12 125397817 125397817 single base substitution G A downstream_gene_variant LUSC-US 12 125397817 125397817 single base substitution G A intron_variant LUSC-US 12 125397817 125397817 single base substitution G A synonymous_variant L167L 501C>T LUSC-US 12 125397880 125397880 single base substitution C A downstream_gene_variant LUSC-US 12 125397880 125397880 single base substitution C A intron_variant LUSC-US 12 125397880 125397880 single base substitution C A synonymous_variant V146V 438G>T MALY-DE 12 125398782 125398782 single base substitution G A 5_prime_UTR_variant MALY-DE 12 125398782 125398782 single base substitution G A intron_variant MALY-DE 12 125398782 125398782 single base substitution G A upstream_gene_variant MALY-DE 12 125398896 125398896 single base substitution C T 5_prime_UTR_variant MALY-DE 12 125398896 125398896 single base substitution C T intron_variant MALY-DE 12 125398896 125398896 single base substitution C T upstream_gene_variant MALY-DE 12 125399157 125399157 deletion of <=200bp A - 5_prime_UTR_variant MALY-DE 12 125399157 125399157 deletion of <=200bp A - exon_variant MALY-DE 12 125399157 125399157 deletion of <=200bp A - upstream_gene_variant MALY-DE 12 125399994 125399994 single base substitution G C intron_variant MALY-DE 12 125399994 125399994 single base substitution G C upstream_gene_variant MALY-DE 12 125406127 125406127 single base substitution A C upstream_gene_variant MELA-AU 12 125392110 125392110 single base substitution G A downstream_gene_variant MELA-AU 12 125392514 125392514 single base substitution C A downstream_gene_variant MELA-AU 12 125392535 125392535 deletion of <=200bp A - downstream_gene_variant MELA-AU 12 125392539 125392539 single base substitution A G downstream_gene_variant MELA-AU 12 125392581 125392581 single base substitution G A downstream_gene_variant MELA-AU 12 125392761 125392761 single base substitution G A downstream_gene_variant MELA-AU 12 125394046 125394046 single base substitution G A downstream_gene_variant MELA-AU 12 125394349 125394349 single base substitution C T downstream_gene_variant MELA-AU 12 125394440 125394440 single base substitution C A downstream_gene_variant MELA-AU 12 125394538 125394538 single base substitution G A downstream_gene_variant MELA-AU 12 125394621 125394621 single base substitution T C downstream_gene_variant MELA-AU 12 125395389 125395389 single base substitution G A downstream_gene_variant MELA-AU 12 125397796 125397796 single base substitution G A downstream_gene_variant MELA-AU 12 125397796 125397796 single base substitution G A intron_variant MELA-AU 12 125397796 125397796 single base substitution G A synonymous_variant T174T 522C>T MELA-AU 12 125397796 125397796 single base substitution G A synonymous_variant T98T 294C>T MELA-AU 12 125397864 125397864 single base substitution C T downstream_gene_variant MELA-AU 12 125397864 125397864 single base substitution C T intron_variant MELA-AU 12 125397864 125397864 single base substitution C T missense_variant G152R 454G>A MELA-AU 12 125397864 125397864 single base substitution C T splice_region_variant MELA-AU 12 125398346 125398346 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 125398346 125398346 single base substitution G A intron_variant MELA-AU 12 125398401 125398401 single base substitution G T 5_prime_UTR_variant MELA-AU 12 125398401 125398401 single base substitution G T intron_variant MELA-AU 12 125398437 125398437 single base substitution A G 5_prime_UTR_variant MELA-AU 12 125398437 125398437 single base substitution A G intron_variant MELA-AU 12 125398752 125398752 single base substitution C T 5_prime_UTR_variant MELA-AU 12 125398752 125398752 single base substitution C T intron_variant MELA-AU 12 125398752 125398752 single base substitution C T upstream_gene_variant MELA-AU 12 125398953 125398953 single base substitution C T 5_prime_UTR_variant MELA-AU 12 125398953 125398953 single base substitution C T intron_variant MELA-AU 12 125398953 125398953 single base substitution C T upstream_gene_variant MELA-AU 12 125398995 125398995 deletion of <=200bp C - 5_prime_UTR_variant MELA-AU 12 125398995 125398995 deletion of <=200bp C - intron_variant MELA-AU 12 125398995 125398995 deletion of <=200bp C - upstream_gene_variant MELA-AU 12 125399021 125399021 single base substitution C T 5_prime_UTR_variant MELA-AU 12 125399021 125399021 single base substitution C T intron_variant MELA-AU 12 125399021 125399021 single base substitution C T upstream_gene_variant MELA-AU 12 125399024 125399024 single base substitution G A 5_prime_UTR_variant MELA-AU 12 125399024 125399024 single base substitution G A intron_variant MELA-AU 12 125399024 125399024 single base substitution G A upstream_gene_variant MELA-AU 12 125399192 125399192 single base substitution G A 5_prime_UTR_variant MELA-AU 12 125399192 125399192 single base substitution G A exon_variant MELA-AU 12 125399192 125399192 single base substitution G A upstream_gene_variant MELA-AU 12 125399220 125399220 single base substitution C T 5_prime_UTR_variant MELA-AU 12 125399220 125399220 single base substitution C T exon_variant MELA-AU 12 125399220 125399220 single base substitution C T upstream_gene_variant MELA-AU 12 125399233 125399233 single base substitution C T 5_prime_UTR_variant MELA-AU 12 125399233 125399233 single base substitution C T exon_variant MELA-AU 12 125399233 125399233 single base substitution C T upstream_gene_variant MELA-AU 12 125399279 125399279 single base substitution G A 5_prime_UTR_variant MELA-AU 12 125399279 125399279 single base substitution G A exon_variant MELA-AU 12 125399279 125399279 single base substitution G A upstream_gene_variant MELA-AU 12 125399279 125399280 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 12 125399279 125399280 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 12 125399279 125399280 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 125399280 125399280 single base substitution G A 5_prime_UTR_variant MELA-AU 12 125399280 125399280 single base substitution G A exon_variant MELA-AU 12 125399280 125399280 single base substitution G A upstream_gene_variant MELA-AU 12 125399307 125399307 single base substitution C T 5_prime_UTR_variant MELA-AU 12 125399307 125399307 single base substitution C T exon_variant MELA-AU 12 125399307 125399307 single base substitution C T splice_region_variant MELA-AU 12 125399307 125399307 single base substitution C T upstream_gene_variant MELA-AU 12 125399343 125399343 single base substitution G A 5_prime_UTR_variant MELA-AU 12 125399343 125399343 single base substitution G A exon_variant MELA-AU 12 125399343 125399343 single base substitution G A intron_variant MELA-AU 12 125399343 125399343 single base substitution G A upstream_gene_variant MELA-AU 12 125399415 125399415 single base substitution C T 5_prime_UTR_variant MELA-AU 12 125399415 125399415 single base substitution C T exon_variant MELA-AU 12 125399415 125399415 single base substitution C T intron_variant MELA-AU 12 125399415 125399415 single base substitution C T upstream_gene_variant MELA-AU 12 125399425 125399425 single base substitution C T 5_prime_UTR_variant MELA-AU 12 125399425 125399425 single base substitution C T exon_variant MELA-AU 12 125399425 125399425 single base substitution C T intron_variant MELA-AU 12 125399425 125399425 single base substitution C T upstream_gene_variant MELA-AU 12 125399487 125399487 single base substitution G A 5_prime_UTR_variant MELA-AU 12 125399487 125399487 single base substitution G A exon_variant MELA-AU 12 125399487 125399487 single base substitution G A intron_variant MELA-AU 12 125399487 125399487 single base substitution G A upstream_gene_variant MELA-AU 12 125399491 125399491 single base substitution G A 5_prime_UTR_variant MELA-AU 12 125399491 125399491 single base substitution G A exon_variant MELA-AU 12 125399491 125399491 single base substitution G A intron_variant MELA-AU 12 125399491 125399491 single base substitution G A upstream_gene_variant MELA-AU 12 125399589 125399589 single base substitution C T 5_prime_UTR_variant MELA-AU 12 125399589 125399589 single base substitution C T intron_variant MELA-AU 12 125399589 125399589 single base substitution C T upstream_gene_variant MELA-AU 12 125400363 125400363 single base substitution A G intron_variant MELA-AU 12 125400363 125400363 single base substitution A G upstream_gene_variant MELA-AU 12 125401030 125401030 single base substitution G C intron_variant MELA-AU 12 125401030 125401030 single base substitution G C upstream_gene_variant MELA-AU 12 125401420 125401420 single base substitution G A intron_variant MELA-AU 12 125401420 125401420 single base substitution G A upstream_gene_variant MELA-AU 12 125402915 125402915 single base substitution A G upstream_gene_variant MELA-AU 12 125403154 125403154 single base substitution C T upstream_gene_variant MELA-AU 12 125403385 125403385 single base substitution G A upstream_gene_variant MELA-AU 12 125404184 125404184 single base substitution C T upstream_gene_variant MELA-AU 12 125404411 125404411 single base substitution C T upstream_gene_variant MELA-AU 12 125404566 125404566 single base substitution C T upstream_gene_variant MELA-AU 12 125405117 125405117 single base substitution C T upstream_gene_variant MELA-AU 12 125405495 125405495 single base substitution C T upstream_gene_variant MELA-AU 12 125405697 125405697 single base substitution C T upstream_gene_variant MELA-AU 12 125406157 125406157 single base substitution C T upstream_gene_variant MELA-AU 12 125406302 125406302 single base substitution G A upstream_gene_variant MELA-AU 12 125406377 125406377 single base substitution C T upstream_gene_variant MELA-AU 12 125406657 125406657 single base substitution A G upstream_gene_variant ORCA-IN 12 125393787 125393787 single base substitution C G downstream_gene_variant ORCA-IN 12 125397336 125397336 single base substitution C G downstream_gene_variant ORCA-IN 12 125397336 125397336 single base substitution C G intron_variant ORCA-IN 12 125397336 125397336 single base substitution C G missense_variant E252Q 754G>C ORCA-IN 12 125397336 125397336 single base substitution C G missense_variant E328Q 982G>C OV-AU 12 125393609 125393609 single base substitution G T downstream_gene_variant OV-AU 12 125399462 125399462 single base substitution C A 5_prime_UTR_variant OV-AU 12 125399462 125399462 single base substitution C A exon_variant OV-AU 12 125399462 125399462 single base substitution C A intron_variant OV-AU 12 125399462 125399462 single base substitution C A upstream_gene_variant OV-AU 12 125403000 125403000 single base substitution C G upstream_gene_variant OV-US 12 125398164 125398164 single base substitution C T exon_variant OV-US 12 125398164 125398164 single base substitution C T missense_variant D52N 154G>A PACA-AU 12 125398864 125398864 single base substitution A T 5_prime_UTR_variant PACA-AU 12 125398864 125398864 single base substitution A T intron_variant PACA-AU 12 125398864 125398864 single base substitution A T upstream_gene_variant PACA-AU 12 125402471 125402473 deletion of <=200bp GTC - upstream_gene_variant PACA-AU 12 125404943 125404943 single base substitution G T upstream_gene_variant PACA-AU 12 125405914 125405914 single base substitution G T upstream_gene_variant PACA-CA 12 125391776 125391776 single base substitution T C downstream_gene_variant PACA-CA 12 125392750 125392750 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 125394826 125394826 single base substitution A G downstream_gene_variant PACA-CA 12 125401139 125401139 single base substitution C T intron_variant PACA-CA 12 125401139 125401139 single base substitution C T upstream_gene_variant PACA-CA 12 125402856 125402856 insertion of <=200bp - T upstream_gene_variant PACA-CA 12 125405786 125405786 single base substitution C A upstream_gene_variant PAEN-AU 12 125403938 125403938 single base substitution C A upstream_gene_variant PAEN-AU 12 125404104 125404104 single base substitution C A upstream_gene_variant PBCA-DE 12 125394828 125394828 single base substitution A G downstream_gene_variant PBCA-DE 12 125396096 125396096 single base substitution C T downstream_gene_variant PBCA-DE 12 125398987 125398987 single base substitution G A 5_prime_UTR_variant PBCA-DE 12 125398987 125398987 single base substitution G A intron_variant PBCA-DE 12 125398987 125398987 single base substitution G A upstream_gene_variant PRAD-CA 12 125398729 125398729 single base substitution A T 5_prime_UTR_variant PRAD-CA 12 125398729 125398729 single base substitution A T intron_variant PRAD-CA 12 125398729 125398729 single base substitution A T upstream_gene_variant PRAD-CA 12 125399463 125399463 single base substitution T G 5_prime_UTR_variant PRAD-CA 12 125399463 125399463 single base substitution T G exon_variant PRAD-CA 12 125399463 125399463 single base substitution T G intron_variant PRAD-CA 12 125399463 125399463 single base substitution T G upstream_gene_variant PRAD-CA 12 125399464 125399464 single base substitution G A 5_prime_UTR_variant PRAD-CA 12 125399464 125399464 single base substitution G A exon_variant PRAD-CA 12 125399464 125399464 single base substitution G A intron_variant PRAD-CA 12 125399464 125399464 single base substitution G A upstream_gene_variant PRAD-UK 12 125395272 125395272 single base substitution A C downstream_gene_variant PRAD-UK 12 125405793 125405793 single base substitution A C upstream_gene_variant PRAD-UK 12 125406331 125406331 single base substitution C T upstream_gene_variant PRAD-UK 12 125406592 125406592 single base substitution G A upstream_gene_variant PRAD-US 12 125397269 125397269 single base substitution G A downstream_gene_variant PRAD-US 12 125397269 125397269 single base substitution G A intron_variant PRAD-US 12 125397269 125397269 single base substitution G A missense_variant A274V 821C>T PRAD-US 12 125397269 125397269 single base substitution G A missense_variant A350V 1049C>T PRAD-US 12 125397652 125397652 single base substitution T C downstream_gene_variant PRAD-US 12 125397652 125397652 single base substitution T C intron_variant PRAD-US 12 125397652 125397652 single base substitution T C synonymous_variant V146V 438A>G PRAD-US 12 125397652 125397652 single base substitution T C synonymous_variant V222V 666A>G PRAD-US 12 125398090 125398090 single base substitution C T downstream_gene_variant PRAD-US 12 125398090 125398090 single base substitution C T exon_variant PRAD-US 12 125398090 125398090 single base substitution C T synonymous_variant G76G 228G>A RECA-EU 12 125399168 125399168 single base substitution G T 5_prime_UTR_variant RECA-EU 12 125399168 125399168 single base substitution G T exon_variant RECA-EU 12 125399168 125399168 single base substitution G T upstream_gene_variant RECA-EU 12 125399833 125399833 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant RECA-EU 12 125399833 125399833 single base substitution C A intron_variant RECA-EU 12 125399833 125399833 single base substitution C A upstream_gene_variant RECA-EU 12 125403907 125403907 single base substitution C T upstream_gene_variant SKCA-BR 12 125392292 125392298 deletion of <=200bp TATATGA - downstream_gene_variant SKCA-BR 12 125392308 125392308 insertion of <=200bp - TATATATATGA downstream_gene_variant SKCA-BR 12 125393958 125393958 single base substitution T C downstream_gene_variant SKCA-BR 12 125396166 125396166 single base substitution A T 3_prime_UTR_variant SKCA-BR 12 125396166 125396166 single base substitution A T downstream_gene_variant SKCA-BR 12 125397832 125397832 single base substitution A G downstream_gene_variant SKCA-BR 12 125397832 125397832 single base substitution A G intron_variant SKCA-BR 12 125397832 125397832 single base substitution A G synonymous_variant G162G 486T>C SKCA-BR 12 125401202 125401202 single base substitution T G intron_variant SKCA-BR 12 125401202 125401202 single base substitution T G upstream_gene_variant SKCA-BR 12 125401207 125401207 single base substitution T G intron_variant SKCA-BR 12 125401207 125401207 single base substitution T G upstream_gene_variant SKCA-BR 12 125401211 125401211 single base substitution T G intron_variant SKCA-BR 12 125401211 125401211 single base substitution T G upstream_gene_variant SKCA-BR 12 125404558 125404558 single base substitution G A upstream_gene_variant SKCM-US 12 125396438 125396438 single base substitution G A downstream_gene_variant SKCM-US 12 125396438 125396438 single base substitution G A missense_variant P247L 740C>T SKCM-US 12 125396438 125396438 single base substitution G A missense_variant P551L 1652C>T SKCM-US 12 125396438 125396438 single base substitution G A missense_variant P627L 1880C>T SKCM-US 12 125396452 125396452 single base substitution G A downstream_gene_variant SKCM-US 12 125396452 125396452 single base substitution G A synonymous_variant T242T 726C>T SKCM-US 12 125396452 125396452 single base substitution G A synonymous_variant T546T 1638C>T SKCM-US 12 125396452 125396452 single base substitution G A synonymous_variant T622T 1866C>T SKCM-US 12 125396503 125396503 single base substitution G A downstream_gene_variant SKCM-US 12 125396503 125396503 single base substitution G A synonymous_variant L225L 675C>T SKCM-US 12 125396503 125396503 single base substitution G A synonymous_variant L529L 1587C>T SKCM-US 12 125396503 125396503 single base substitution G A synonymous_variant L605L 1815C>T SKCM-US 12 125396518 125396518 single base substitution G A downstream_gene_variant SKCM-US 12 125396518 125396518 single base substitution G A synonymous_variant H220H 660C>T SKCM-US 12 125396518 125396518 single base substitution G A synonymous_variant H524H 1572C>T SKCM-US 12 125396518 125396518 single base substitution G A synonymous_variant H600H 1800C>T SKCM-US 12 125397113 125397113 single base substitution G A downstream_gene_variant SKCM-US 12 125397113 125397113 single base substitution G A intron_variant SKCM-US 12 125397113 125397113 single base substitution G A missense_variant T326I 977C>T SKCM-US 12 125397113 125397113 single base substitution G A missense_variant T402I 1205C>T SKCM-US 12 125397415 125397415 single base substitution G A downstream_gene_variant SKCM-US 12 125397415 125397415 single base substitution G A intron_variant SKCM-US 12 125397415 125397415 single base substitution G A synonymous_variant L225L 675C>T SKCM-US 12 125397415 125397415 single base substitution G A synonymous_variant L301L 903C>T SKCM-US 12 125397652 125397652 single base substitution T C downstream_gene_variant SKCM-US 12 125397652 125397652 single base substitution T C intron_variant SKCM-US 12 125397652 125397652 single base substitution T C synonymous_variant V146V 438A>G SKCM-US 12 125397652 125397652 single base substitution T C synonymous_variant V222V 666A>G SKCM-US 12 125397794 125397794 deletion of <=200bp A - downstream_gene_variant SKCM-US 12 125397794 125397794 deletion of <=200bp A - frameshift_variant I175 SKCM-US 12 125397794 125397794 deletion of <=200bp A - frameshift_variant I99 SKCM-US 12 125397794 125397794 deletion of <=200bp A - intron_variant SKCM-US 12 125397806 125397806 single base substitution G A downstream_gene_variant SKCM-US 12 125397806 125397806 single base substitution G A intron_variant SKCM-US 12 125397806 125397806 single base substitution G A missense_variant P171L 512C>T SKCM-US 12 125397806 125397806 single base substitution G A missense_variant P95L 284C>T SKCM-US 12 125397827 125397827 single base substitution G A downstream_gene_variant SKCM-US 12 125397827 125397827 single base substitution G A intron_variant SKCM-US 12 125397827 125397827 single base substitution G A missense_variant T164I 491C>T SKCM-US 12 125397978 125397978 single base substitution G A downstream_gene_variant SKCM-US 12 125397978 125397978 single base substitution G A exon_variant SKCM-US 12 125397978 125397978 single base substitution G A intron_variant SKCM-US 12 125397978 125397978 single base substitution G A missense_variant P114S 340C>T STAD-US 12 125396267 125396267 deletion of <=200bp C - downstream_gene_variant STAD-US 12 125396267 125396267 deletion of <=200bp C - frameshift_variant G304 STAD-US 12 125396267 125396267 deletion of <=200bp C - frameshift_variant G608 STAD-US 12 125396267 125396267 deletion of <=200bp C - frameshift_variant G684 STAD-US 12 125397325 125397325 single base substitution C T downstream_gene_variant STAD-US 12 125397325 125397325 single base substitution C T intron_variant STAD-US 12 125397325 125397325 single base substitution C T synonymous_variant K255K 765G>A STAD-US 12 125397325 125397325 single base substitution C T synonymous_variant K331K 993G>A STAD-US 12 125397350 125397350 single base substitution G A downstream_gene_variant STAD-US 12 125397350 125397350 single base substitution G A intron_variant STAD-US 12 125397350 125397350 single base substitution G A missense_variant P247L 740C>T STAD-US 12 125397350 125397350 single base substitution G A missense_variant P323L 968C>T STAD-US 12 125397535 125397535 single base substitution C A downstream_gene_variant STAD-US 12 125397535 125397535 single base substitution C A intron_variant STAD-US 12 125397535 125397535 single base substitution C A missense_variant K185N 555G>T STAD-US 12 125397535 125397535 single base substitution C A missense_variant K261N 783G>T STAD-US 12 125397600 125397600 single base substitution T C downstream_gene_variant STAD-US 12 125397600 125397600 single base substitution T C intron_variant STAD-US 12 125397600 125397600 single base substitution T C missense_variant T164A 490A>G STAD-US 12 125397600 125397600 single base substitution T C missense_variant T240A 718A>G STAD-US 12 125397670 125397671 deletion of <=200bp CT - downstream_gene_variant STAD-US 12 125397670 125397671 deletion of <=200bp CT - frameshift_variant E140 STAD-US 12 125397670 125397671 deletion of <=200bp CT - frameshift_variant E216 STAD-US 12 125397670 125397671 deletion of <=200bp CT - intron_variant STAD-US 12 125397684 125397684 single base substitution T C downstream_gene_variant STAD-US 12 125397684 125397684 single base substitution T C intron_variant STAD-US 12 125397684 125397684 single base substitution T C missense_variant N136D 406A>G STAD-US 12 125397684 125397684 single base substitution T C missense_variant N212D 634A>G STAD-US 12 125398003 125398003 single base substitution C G downstream_gene_variant STAD-US 12 125398003 125398003 single base substitution C G exon_variant STAD-US 12 125398003 125398003 single base substitution C G intron_variant STAD-US 12 125398003 125398003 single base substitution C G missense_variant K105N 315G>C STAD-US 12 125398003 125398003 single base substitution C G splice_region_variant THCA-SA 12 125397244 125397244 single base substitution A G downstream_gene_variant THCA-SA 12 125397244 125397244 single base substitution A G intron_variant THCA-SA 12 125397244 125397244 single base substitution A G synonymous_variant R282R 846T>C THCA-SA 12 125397244 125397244 single base substitution A G synonymous_variant R358R 1074T>C THCA-SA 12 125399133 125399133 single base substitution C T 5_prime_UTR_variant THCA-SA 12 125399133 125399133 single base substitution C T splice_region_variant THCA-SA 12 125399133 125399133 single base substitution C T upstream_gene_variant THCA-US 12 125397369 125397369 single base substitution T C downstream_gene_variant THCA-US 12 125397369 125397369 single base substitution T C intron_variant THCA-US 12 125397369 125397369 single base substitution T C missense_variant I241V 721A>G THCA-US 12 125397369 125397369 single base substitution T C missense_variant I317V 949A>G UCEC-US 12 125396291 125396291 single base substitution T C downstream_gene_variant UCEC-US 12 125396291 125396291 single base substitution T C missense_variant H296R 887A>G UCEC-US 12 125396291 125396291 single base substitution T C missense_variant H600R 1799A>G UCEC-US 12 125396291 125396291 single base substitution T C missense_variant H676R 2027A>G UCEC-US 12 125396313 125396315 deletion of <=200bp TGT - disruptive_inframe_deletion NI288I UCEC-US 12 125396313 125396315 deletion of <=200bp TGT - disruptive_inframe_deletion NI592I UCEC-US 12 125396313 125396315 deletion of <=200bp TGT - disruptive_inframe_deletion NI668I UCEC-US 12 125396313 125396315 deletion of <=200bp TGT - downstream_gene_variant UCEC-US 12 125396635 125396635 single base substitution C A downstream_gene_variant UCEC-US 12 125396635 125396635 single base substitution C A missense_variant K181N 543G>T UCEC-US 12 125396635 125396635 single base substitution C A missense_variant K485N 1455G>T UCEC-US 12 125396635 125396635 single base substitution C A missense_variant K561N 1683G>T UCEC-US 12 125396863 125396863 single base substitution C T downstream_gene_variant UCEC-US 12 125396863 125396863 single base substitution C T intron_variant UCEC-US 12 125396863 125396863 single base substitution C T synonymous_variant K409K 1227G>A UCEC-US 12 125396863 125396863 single base substitution C T synonymous_variant K485K 1455G>A UCEC-US 12 125396905 125396905 single base substitution G A downstream_gene_variant UCEC-US 12 125396905 125396905 single base substitution G A intron_variant UCEC-US 12 125396905 125396905 single base substitution G A synonymous_variant L395L 1185C>T UCEC-US 12 125396905 125396905 single base substitution G A synonymous_variant L471L 1413C>T UCEC-US 12 125396967 125396967 single base substitution G A downstream_gene_variant UCEC-US 12 125396967 125396967 single base substitution G A intron_variant UCEC-US 12 125396967 125396967 single base substitution G A missense_variant L375F 1123C>T UCEC-US 12 125396967 125396967 single base substitution G A missense_variant L451F 1351C>T UCEC-US 12 125397046 125397046 single base substitution G T downstream_gene_variant UCEC-US 12 125397046 125397046 single base substitution G T intron_variant UCEC-US 12 125397046 125397046 single base substitution G T synonymous_variant I348I 1044C>A UCEC-US 12 125397046 125397046 single base substitution G T synonymous_variant I424I 1272C>A UCEC-US 12 125397699 125397699 single base substitution T C downstream_gene_variant UCEC-US 12 125397699 125397699 single base substitution T C intron_variant UCEC-US 12 125397699 125397699 single base substitution T C missense_variant T131A 391A>G UCEC-US 12 125397699 125397699 single base substitution T C missense_variant T207A 619A>G UCEC-US 12 125397774 125397774 single base substitution T C downstream_gene_variant UCEC-US 12 125397774 125397774 single base substitution T C intron_variant UCEC-US 12 125397774 125397774 single base substitution T C missense_variant I106V 316A>G UCEC-US 12 125397774 125397774 single base substitution T C missense_variant I182V 544A>G UCEC-US 12 125397899 125397902 deletion of <=200bp TCTT - downstream_gene_variant UCEC-US 12 125397899 125397902 deletion of <=200bp TCTT - exon_variant UCEC-US 12 125397899 125397902 deletion of <=200bp TCTT - frameshift_variant KE139 UCEC-US 12 125397899 125397902 deletion of <=200bp TCTT - intron_variant UCEC-US 12 125397930 125397930 single base substitution G A downstream_gene_variant UCEC-US 12 125397930 125397930 single base substitution G A exon_variant UCEC-US 12 125397930 125397930 single base substitution G A intron_variant UCEC-US 12 125397930 125397930 single base substitution G A missense_variant R130C 388C>T UCEC-US 12 125398194 125398194 single base substitution T G exon_variant UCEC-US 12 125398194 125398194 single base substitution T G synonymous_variant R42R 124A>C UCEC-US 12 125398213 125398213 single base substitution G T exon_variant UCEC-US 12 125398213 125398213 single base substitution G T synonymous_variant G35G 105C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-24-1435-01 COSM76930 c.154G>A p.D52N Substitution - Missense 12:124913618-124913618 - 59 COSM5015173 c.1954A>G p.I652V Substitution - Missense 12:124911818-124911818 - SCC-15 COSM4591876 c.568T>C p.S190P Substitution - Missense TCGA-EJ-5527-01 COSM3398507 c.1049C>T p.A350V Substitution - Missense 12:124912723-124912723 - CSCC-29-T COSM4539894 c.274G>T p.E92* Substitution - Nonsense 12:124913498-124913498 - TCGA-CZ-5459-01 COSM467985 c.873A>G p.K291K Substitution - coding silent 12:124912899-124912899 - TCGA-BR-4362-01 COSM4039972 c.718A>G p.T240A Substitution - Missense 12:124913054-124913054 - TCGA-EL-A4K2-01 COSM3368718 c.949A>G p.I317V Substitution - Missense 12:124912823-124912823 - UM-SCC-4 COSM4591876 c.568T>C p.S190P Substitution - Missense TCGA-CH-5740-01 COSM1128662 c.228G>A p.G76G Substitution - coding silent 12:124913544-124913544 - PD24199a COSM5168548 c.843G>T p.G281G Substitution - coding silent 12:124912929-124912929 - TCGA-AK-3427-01 COSM1492854 c.366C>T p.A122A Substitution - coding silent 12:124913406-124913406 - TCGA-D5-6540-01 COSM1359950 c.2051_2052insG p.V685fs*>2 Insertion - Frameshift 12:124911720-124911721 - AML_14y_06_DX COSM5956811 c.234A>G p.Q78Q Substitution - coding silent 12:124913538-124913538 - RKO COSM1359951 c.2051delG p.G684fs*>2 Deletion - Frameshift 12:124911721-124911721 - WSU-HN6 COSM4591876 c.568T>C p.S190P Substitution - Missense TCGA-DK-A1AC-01 COSM1299103 c.243G>A p.V81V Substitution - coding silent 12:124913529-124913529 - YUPAER COSM5374587 c.274G>A p.E92K Substitution - Missense 12:124913498-124913498 - SCC-9 COSM4591876 c.568T>C p.S190P Substitution - Missense TCGA-ER-A3PL-06 COSM2227284 c.666A>G p.V222V Substitution - coding silent 12:124913106-124913106 - pfg212T COSM4765951 c.2052_2053insG p.V685fs*>2 Insertion - Frameshift 12:124911719-124911720 - TCGA-B5-A11E-01 COSM936776 c.1455G>A p.K485K Substitution - coding silent 12:124912317-124912317 - TCGA-59-2363-01 COSM73178 c.622C>G p.L208V Substitution - Missense 12:124913150-124913150 - TCGA-AP-A051-01 COSM936788 c.105C>A p.G35G Substitution - coding silent 12:124913667-124913667 - TCGA-B6-A0WZ-01 COSM430672 c.368G>C p.G123A Substitution - Missense 12:124913404-124913404 - TCGA-DS-A1OD-01 COSM936781 c.828G>A p.K276K Substitution - coding silent 12:124912944-124912944 - T1204 COSM2227305 c.21T>C p.T7T Substitution - coding silent 12:124913751-124913751 - CAL27 COSM4591876 c.568T>C p.S190P Substitution - Missense UM-SCC-17B COSM4591876 c.568T>C p.S190P Substitution - Missense PD4006a COSM3355850 c.1157A>G p.K386R Substitution - Missense 12:124912615-124912615 - KPOPBR-03-T COSM5965391 c.799G>A p.D267N Substitution - Missense 12:124912973-124912973 - UM-SCC-11B COSM4591876 c.568T>C p.S190P Substitution - Missense ESCC_151 COSM936780 c.1020C>T p.I340I Substitution - coding silent 12:124912752-124912752 - TCGA-AP-A056-01 COSM936773 c.2027A>G p.H676R Substitution - Missense 12:124911745-124911745 - TCGA-AX-A05Y-01 COSM936777 c.1413C>T p.L471L Substitution - coding silent 12:124912359-124912359 - TCGA-AS-3778-01 COSM3359608 c.1131C>T p.L377L Substitution - coding silent 12:124912641-124912641 - WSU-HN12 COSM4591876 c.568T>C p.S190P Substitution - Missense ORL-48 COSM4591876 c.568T>C p.S190P Substitution - Missense ESCC_151 COSM5645142 c.987T>C p.N329N Substitution - coding silent 12:124912785-124912785 - AML_14y_08_DX COSM5521486 c.801C>T p.D267D Substitution - coding silent 12:124912971-124912971 - CSCC-1-T COSM2227277 c.969G>C p.P323P Substitution - coding silent 12:124912803-124912803 - TCGA-AC-A2QI-01 COSM3811434 c.730G>C p.E244Q Substitution - Missense 12:124913042-124913042 - HCC2998 COSM2227259 c.1918G>T p.D640Y Substitution - Missense 12:124911854-124911854 - STC263 COSM5051434 c.53A>C p.E18A Substitution - Missense 12:124913719-124913719 - TCGA-CJ-6028-01 COSM467983 c.1911G>C p.K637N Substitution - Missense 12:124911861-124911861 - TCGA-A2-A0SU-01 COSM430670 c.1255G>T p.D419Y Substitution - Missense 12:124912517-124912517 - TCGA-FW-A3R5-06 COSM3871073 c.512C>T p.P171L Substitution - Missense 12:124913260-124913260 - SCC-25 COSM4591876 c.568T>C p.S190P Substitution - Missense Detroit_562 COSM2227284 c.666A>G p.V222V Substitution - coding silent 12:124913106-124913106 - TCGA-G9-6499-01 COSM2227284 c.666A>G p.V222V Substitution - coding silent 12:124913106-124913106 - TCGA-B5-A11G-01 COSM936783 c.544A>G p.I182V Substitution - Missense 12:124913228-124913228 - NOKSI COSM4591876 c.568T>C p.S190P Substitution - Missense Detroit_562 COSM3811430 c.1257C>T p.D419D Substitution - coding silent 12:124912515-124912515 - TCGA-IR-A3LL-01 COSM4849784 c.274G>C p.E92Q Substitution - Missense 12:124913498-124913498 - AML_14y_07_DX COSM4204699 c.573T>C p.D191D Substitution - coding silent 12:124913199-124913199 - P09-1372 COSM248175 c.1815C>T p.L605L Substitution - coding silent 12:124911957-124911957 - SWE-4C COSM5521487 c.780C>T p.D260D Substitution - coding silent 12:124912992-124912992 - TCGA-EK-A3GJ-01 COSM3931565 c.1361G>C p.R454T Substitution - Missense 12:124912411-124912411 - LP2000108-DNA_A01 COSM4408563 c.1477C>A p.P493T Substitution - Missense 12:124912295-124912295 - TCGA-EJ-5514-01 COSM1128664 c.1941T>C p.D647D Substitution - coding silent 12:124911831-124911831 - TCGA-A6-2683-01 COSM291237 c.297C>T p.I99I Substitution - coding silent 12:124913475-124913475 - AML_14y_06_DX COSM248175 c.1815C>T p.L605L Substitution - coding silent 12:124911957-124911957 - 2T COSM3710570 c.982G>C p.E328Q Substitution - Missense 12:124912790-124912790 - Sample_1 COSM3811432 c.954T>C p.T318T Substitution - coding silent 12:124912818-124912818 - TCGA-60-2722-01 COSM692391 c.438G>T p.V146V Substitution - coding silent 12:124913334-124913334 - B66-Tumor COSM3931565 c.1361G>C p.R454T Substitution - Missense 12:124912411-124912411 - SWE-4C COSM5521486 c.801C>T p.D267D Substitution - coding silent 12:124912971-124912971 - TCGA-AP-A054-01 COSM936784 c.416_419delAAGA p.K139fs*18 Deletion - Frameshift 12:124913353-124913356 - CLL096 COSM1289709 c.715A>G p.K239E Substitution - Missense 12:124913057-124913057 - ccRCC-38 COSM1665838 c.1925_1928delAAGG p.E642fs*9 Deletion - Frameshift 12:124911844-124911847 - TCGA-E2-A3DX-01 COSM3811429 c.1416A>G p.E472E Substitution - coding silent 12:124912356-124912356 - TCGA-DS-A1OD-01 COSM1293460 c.883C>T p.L295L Substitution - coding silent 12:124912889-124912889 - LUAD-S01345 COSM396890 c.1210G>C p.E404Q Substitution - Missense 12:124912562-124912562 - TCGA-AR-A24N-01 COSM1476309 c.1687_1688insC p.Q563fs*9 Insertion - Frameshift 12:124912084-124912085 - RK044_C01 COSM1628447 c.508G>A p.E170K Substitution - Missense 12:124913264-124913264 - TCGA-CJ-4901-01 COSM467986 c.365C>T p.A122V Substitution - Missense 12:124913407-124913407 - AML_14y_07_DX COSM3359608 c.1131C>T p.L377L Substitution - coding silent 12:124912641-124912641 - TCGA-D1-A17Q-01 COSM936787 c.124A>C p.R42R Substitution - coding silent 12:124913648-124913648 - TCGA-AP-A0L8-01 COSM936786 c.372G>A p.K124K Substitution - coding silent 12:124913400-124913400 - PA028 COSM1162235 c.1854_1855insT p.K619fs*1 Insertion - Frameshift 12:124911917-124911918 - TCGA-Q1-A5R2-01 COSM4850284 c.2055C>G p.V685V Substitution - coding silent 12:124911717-124911717 - TCGA-AX-A05Z-01 COSM936778 c.1351C>T p.L451F Substitution - Missense 12:124912421-124912421 - SW403 COSM4615879 c.1995_1996insT p.D666fs*1 Insertion - Frameshift 12:124911776-124911777 - TCGA-AO-A12E-01 COSM3811432 c.954T>C p.T318T Substitution - coding silent 12:124912818-124912818 - 783_T COSM3954351 c.1544A>T p.Y515F Substitution - Missense 12:124912228-124912228 - TCGA-AN-A03Y-01 COSM430667 c.1849A>C p.T617P Substitution - Missense 12:124911923-124911923 - PTC-7C COSM4146805 c.1830A>G p.Q610Q Substitution - coding silent 12:124911942-124911942 - TCGA-CC-A7IF-01 COSM4915498 c.1195C>T p.P399S Substitution - Missense 12:124912577-124912577 - TCGA-AP-A054-01 COSM936782 c.619A>G p.T207A Substitution - Missense 12:124913153-124913153 - TCGA-FW-A3R5-06 COSM3871072 c.1880C>T p.P627L Substitution - Missense 12:124911892-124911892 - EOPC-135_tumor_01 COSM5950672 c.144A>G p.K48K Substitution - coding silent 12:124913628-124913628 - TCGA-CM-6162-01 COSM1359951 c.2051delG p.G684fs*>2 Deletion - Frameshift 12:124911721-124911721 - TCGA-A2-A0D1-01 COSM430668 c.1632_1633insC p.I545fs*9 Insertion - Frameshift 12:124912139-124912140 - ESCC_151 COSM4039969 c.993G>A p.K331K Substitution - coding silent 12:124912779-124912779 - TCGA-BR-8360-01 COSM3954352 c.634A>G p.N212D Substitution - Missense 12:124913138-124913138 - Detroit_562 COSM4146805 c.1830A>G p.Q610Q Substitution - coding silent 12:124911942-124911942 - Detroit_562 COSM4204696 c.777A>G p.Q259Q Substitution - coding silent 12:124912995-124912995 - sysucc-1854T COSM5764170 c.252C>G p.L84L Substitution - coding silent 12:124913520-124913520 - TCGA-BH-A18G-01 COSM3811435 c.288T>C p.S96S Substitution - coding silent 12:124913484-124913484 - WSU-HN8 COSM4591876 c.568T>C p.S190P Substitution - Missense T256 COSM936780 c.1020C>T p.I340I Substitution - coding silent 12:124912752-124912752 - UD-SCC-2 COSM4591876 c.568T>C p.S190P Substitution - Missense TCGA-HT-7677-01 COSM3968079 c.1171A>G p.K391E Substitution - Missense 12:124912601-124912601 - TCGA-46-3769-01 COSM692392 c.501C>T p.L167L Substitution - coding silent 12:124913271-124913271 - ESO-122 COSM1269615 c.204C>T p.H68H Substitution - coding silent 12:124913568-124913568 - LUAD-5V8LT COSM401394 c.294C>T p.T98T Substitution - coding silent 12:124913478-124913478 - HN_63007 COSM130033 c.88A>G p.I30V Substitution - Missense 12:124913684-124913684 - TCGA-25-1320-01 COSM111485 c.332_357del26 p.G111fs*15 Deletion - Frameshift 12:124913415-124913440 - ccRCC-35 COSM1664852 c.335T>C p.I112T Substitution - Missense 12:124913437-124913437 - TCGA-ER-A193-06 COSM3457858 c.1205C>T p.T402I Substitution - Missense 12:124912567-124912567 - BICR_22 COSM4591876 c.568T>C p.S190P Substitution - Missense TCGA-E2-A15K-01 COSM3811428 c.1587T>C p.L529L Substitution - coding silent 12:124912185-124912185 - SJACT002_D COSM4967944 c.799G>C p.D267H Substitution - Missense 12:124912973-124912973 - S02284 COSM5684030 c.443G>T p.R148L Substitution - Missense 12:124913329-124913329 - UM-SCC-47 COSM4591876 c.568T>C p.S190P Substitution - Missense B8 COSM254998 c.61G>A p.D21N Substitution - Missense 12:124913711-124913711 - TCGA-DK-A1A6-01 COSM1299102 c.1953G>A p.L651L Substitution - coding silent 12:124911819-124911819 - pfg016T COSM1639068 c.2006T>A p.I669N Substitution - Missense 12:124911766-124911766 - TCGA-AC-A5XS-01 COSM4390824 c.1133G>C p.R378T Substitution - Missense 12:124912639-124912639 - BK0024 COSM4186447 c.1814T>C p.L605P Substitution - Missense 12:124911958-124911958 - WSU-HN30 COSM4591876 c.568T>C p.S190P Substitution - Missense TCGA-HU-A4GQ-01 COSM4039970 c.968C>T p.P323L Substitution - Missense 12:124912804-124912804 - TCGA-BS-A0UV-01 COSM936775 c.1683G>T p.K561N Substitution - Missense 12:124912089-124912089 - TCGA-C5-A3HE-01 COSM3811430 c.1257C>T p.D419D Substitution - coding silent 12:124912515-124912515 - PTC-28C COSM3811430 c.1257C>T p.D419D Substitution - coding silent 12:124912515-124912515 - 824_T COSM3954353 c.396G>C p.L132L Substitution - coding silent 12:124913376-124913376 - QC2-39-T2 COSM5655718 c.1051G>A p.G351R Substitution - Missense 12:124912721-124912721 - 3N42-VS-3T42 COSM4981911 c.670C>G p.R224G Substitution - Missense 12:124913102-124913102 - TCGA-02-0055-01 COSM3398506 c.1117C>A p.L373M Substitution - Missense 12:124912655-124912655 - I2L-P7-Tumor-Organoid COSM3968079 c.1171A>G p.K391E Substitution - Missense 12:124912601-124912601 - 824_T COSM3954352 c.634A>G p.N212D Substitution - Missense 12:124913138-124913138 - PTC-73C COSM4146808 c.195C>T p.S65S Substitution - coding silent 12:124913577-124913577 - TCGA-AP-A05J-01 COSM936780 c.1020C>T p.I340I Substitution - coding silent 12:124912752-124912752 - PD13754a COSM5777057 c.414G>C p.Q138H Substitution - Missense 12:124913358-124913358 - PTC-10C COSM4146807 c.1074T>C p.R358R Substitution - coding silent 12:124912698-124912698 - TCGA-CH-5745-01 COSM1128663 c.960A>G p.E320E Substitution - coding silent 12:124912812-124912812 - Detroit_562 COSM4595273 c.655T>C p.L219L Substitution - coding silent 12:124913117-124913117 - BHY COSM4591876 c.568T>C p.S190P Substitution - Missense TCGA-D3-A2JK-06 COSM3457859 c.903C>T p.L301L Substitution - coding silent 12:124912869-124912869 - TCGA-D1-A17H-01 COSM936789 c.60T>C p.S20S Substitution - coding silent 12:124913712-124913712 - TCGA-AA-3492-01 COSM401394 c.294C>T p.T98T Substitution - coding silent 12:124913478-124913478 - TCGA-D8-A143-01 COSM430671 c.373C>G p.Q125E Substitution - Missense 12:124913399-124913399 - CPCG0103-P8 COSM1359953 c.622C>A p.L208M Substitution - Missense 12:124913150-124913150 - AML_14y_07_DX COSM4146808 c.195C>T p.S65S Substitution - coding silent 12:124913577-124913577 - CSCC-32-T COSM4518741 c.783_784GG>AA p.E262K Substitution - Missense 12:124912988-124912989 - TCGA-GN-A266-06 COSM3457856 c.1866C>T p.T622T Substitution - coding silent 12:124911906-124911906 - AML_14y_08_DX COSM5956841 c.1692C>T p.D564D Substitution - coding silent 12:124912080-124912080 - TCGA-EE-A29D-06 COSM3457860 c.491C>T p.T164I Substitution - Missense 12:124913281-124913281 - CSCC-29-T COSM4494955 c.442C>T p.R148C Substitution - Missense 12:124913330-124913330 - TCGA-GM-A2DB-01 COSM5232435 c.1981_1983delGGA p.G661delG Deletion - In frame 12:124911789-124911791 - AML_14y_10_DX COSM1128663 c.960A>G p.E320E Substitution - coding silent 12:124912812-124912812 - TCGA-AP-A051-01 COSM936785 c.388C>T p.R130C Substitution - Missense 12:124913384-124913384 - PD4006a COSM3355850 c.1157A>G p.K386R Substitution - Missense 12:124912615-124912615 - ESCC-158T COSM3935823 c.46G>C p.E16Q Substitution - Missense 12:124913726-124913726 - T1204 COSM4738654 c.2029T>C p.L677L Substitution - coding silent 12:124911743-124911743 - UPCI:SCC090 COSM4591876 c.568T>C p.S190P Substitution - Missense B8-Tumor COSM254998 c.61G>A p.D21N Substitution - Missense 12:124913711-124913711 - RKO COSM4647542 c.1990C>A p.L664M Substitution - Missense 12:124911782-124911782 - PD13754a COSM5777054 c.550G>C p.D184H Substitution - Missense 12:124913222-124913222 - T2948 COSM4738655 c.1945C>T p.Q649* Substitution - Nonsense 12:124911827-124911827 - BL42 COSM376613 c.1018A>T p.I340F Substitution - Missense 12:124912754-124912754 - AML_14y_08_DX COSM5956872 c.1122G>A p.V374V Substitution - coding silent 12:124912650-124912650 - TCGA-CG-4301-01 COSM4039973 c.315G>C p.K105N Substitution - Missense 12:124913457-124913457 - T3021 COSM4738656 c.1071T>C p.G357G Substitution - coding silent 12:124912701-124912701 - TCGA-AP-A0L8-01 COSM936781 c.828G>A p.K276K Substitution - coding silent 12:124912944-124912944 - sysucc-1497T COSM5764058 c.1182T>C p.T394T Substitution - coding silent 12:124912590-124912590 - TCGA-BS-A0UF-01 COSM936779 c.1272C>A p.I424I Substitution - coding silent 12:124912500-124912500 - cSCCP4 COSM138906 c.307A>T p.K103* Substitution - Nonsense 12:124913465-124913465 - TCGA-AO-A12E-01 COSM3811430 c.1257C>T p.D419D Substitution - coding silent 12:124912515-124912515 - TCGA-A3-3387-01 COSM467984 c.1165A>G p.T389A Substitution - Missense 12:124912607-124912607 - 93VU147T COSM4591876 c.568T>C p.S190P Substitution - Missense TCGA-D3-A3ML-06 COSM3457857 c.1800C>T p.H600H Substitution - coding silent 12:124911972-124911972 - TCGA-UC-A7PF-01 COSM4830313 c.1866C>A p.T622T Substitution - coding silent 12:124911906-124911906 - D28 COSM5546067 c.977C>T p.T326I Substitution - Missense 12:124912795-124912795 - PD13754a COSM5794779 c.756G>C p.E252D Substitution - Missense 12:124913016-124913016 - CAL33 COSM4591876 c.568T>C p.S190P Substitution - Missense SH-3979 COSM5018032 c.161G>A p.R54H Substitution - Missense 12:124913611-124913611 - PD23570a COSM5768151 c.1845C>A p.T615T Substitution - coding silent 12:124911927-124911927 - TCGA-EE-A2GT-06 COSM248175 c.1815C>T p.L605L Substitution - coding silent 12:124911957-124911957 - Detroit_562 COSM3811432 c.954T>C p.T318T Substitution - coding silent 12:124912818-124912818 - UM-SCC-2 COSM4591876 c.568T>C p.S190P Substitution - Missense TCGA-06-5411-01 COSM3398507 c.1049C>T p.A350V Substitution - Missense 12:124912723-124912723 - Detroit_562 COSM4595290 c.750T>C p.T250T Substitution - coding silent 12:124913022-124913022 - sysucc-1370T COSM4204696 c.777A>G p.Q259Q Substitution - coding silent 12:124912995-124912995 - TCGA-BS-A0UM-01 COSM936774 c.2003_2005delACA p.N668delN Deletion - In frame 12:124911767-124911769 - PTC-6C COSM4146805 c.1830A>G p.Q610Q Substitution - coding silent 12:124911942-124911942 - TCGA-AC-A23H-01 COSM3811431 c.1082C>G p.S361C Substitution - Missense 12:124912690-124912690 - Detroit_562 COSM4591876 c.568T>C p.S190P Substitution - Missense TCGA-AK-3427-01 COSM936786 c.372G>A p.K124K Substitution - coding silent 12:124913400-124913400 - TCGA-60-2709-01 COSM692393 c.700A>G p.K234E Substitution - Missense 12:124913072-124913072 - TCGA-AC-A2QI-01 COSM3811433 c.754G>C p.E252Q Substitution - Missense 12:124913018-124913018 - B105-0-Tumor COSM3931564 c.1666G>A p.E556K Substitution - Missense 12:124912106-124912106 - ESCC_170 COSM5193382 c.51T>G p.V17V Substitution - coding silent 12:124913721-124913721 - TARGET-30-PASGAP COSM1288798 c.1905G>A p.K635K Substitution - coding silent 12:124911867-124911867 - Gp2D COSM130033 c.88A>G p.I30V Substitution - Missense 12:124913684-124913684 - TCGA-GN-A266-06 COSM3457861 c.340C>T p.P114S Substitution - Missense 12:124913432-124913432 - ccRCC-105 COSM1289709 c.715A>G p.K239E Substitution - Missense 12:124913057-124913057 - TCGA-HU-A4GQ-01 COSM4039969 c.993G>A p.K331K Substitution - coding silent 12:124912779-124912779 - sysucc-627T COSM5467967 c.1188G>A p.E396E Substitution - coding silent 12:124912584-124912584 - PTC-515C COSM4146806 c.1665T>C p.I555I Substitution - coding silent 12:124912107-124912107 - EOPC-135_tumor_01 COSM5950679 c.138T>C p.A46A Substitution - coding silent 12:124913634-124913634 - TCGA-E2-A10B-01 COSM430669 c.1354C>T p.R452C Substitution - Missense 12:124912418-124912418 - TCGA-HU-A4GQ-01 COSM4039971 c.783G>T p.K261N Substitution - Missense 12:124912989-124912989 - OSCC-GB_00020111 COSM3710570 c.982G>C p.E328Q Substitution - Missense 12:124912790-124912790 - ESCC_151 COSM936781 c.828G>A p.K276K Substitution - coding silent 12:124912944-124912944 - T2974 COSM4738654 c.2029T>C p.L677L Substitution - coding silent 12:124911743-124911743 - LUAD-NYU847 COSM376613 c.1018A>T p.I340F Substitution - Missense 12:124912754-124912754 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.520343;Hs.520348 12q24.3 191340 2464064|CGAP|BC039193|C/T|coding|Thr294Thr|949|Validated; 2464064|CGAP|BC039193|C/T|coding|Thr370Thr|1177|Validated; 2464064|CGAP|BC039193|C/T|coding|Thr446Thr|1405|Validated; 2464064|CGAP|BC039193|C/T|coding|Thr522Thr|1633|Validated; 2464064|CGAP|BC039193|C/T|coding|Thr598Thr|1861|Validated; 2464064|CGAP|BC039193|C/T|coding|Thr674Thr|2089|Validated; 2464065|CGAP|BC039193|C/T|non-coding||47|Validated; 2464071|CGAP|BC039193|A/G|coding|Glu320Glu|1027|Validated; 2464071|CGAP|BC039193|A/G|coding|Glu396Glu|1255|Validated; 2464071|CGAP|BC039193|A/G|coding|Glu472Glu|1483|Validated; 2464071|CGAP|BC039193|A/G|coding|Glu548Glu|1711|Validated; 2464071|CGAP|BC039193|A/G|coding|Glu624Glu|1939|Validated; 2464072|CGAP|BC039193|A/G|coding|Gly199Gly|664|Validated; 2464072|CGAP|BC039193|A/G|coding|Gly427Gly|1348|Validated; 2464072|CGAP|BC039193|A/G|coding|Gly47Gly|208|Validated; 2464072|CGAP|BC039193|A/G|coding|Gly503Gly|1576|Validated; 2464072|CGAP|BC039193|A/G|coding|Gly579Gly|1804|Validated; 2464072|CGAP|BC039193|A/G|coding|Gly655Gly|2032|Validated; 2464120|CGAP|BC039193|C/T|coding|Leu143Leu|494|Validated; 2464120|CGAP|BC039193|C/T|coding|Leu295Leu|950|Validated; 2464120|CGAP|BC039193|C/T|coding|Leu371Leu|1178|Validated; 2464120|CGAP|BC039193|C/T|coding|Leu447Leu|1406|Validated; 2464120|CGAP|BC039193|C/T|coding|Leu523Leu|1634|Validated; 2464120|CGAP|BC039193|C/T|coding|Leu599Leu|1862|Validated; 2464220|CGAP|BC039193|C/T|coding|Ile175Ile|592|Validated; 2464220|CGAP|BC039193|C/T|coding|Ile327Ile|1048|Validated; 246422

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.V17V c.51T>G 12 125398267 HNSC A - Frameshift p.I175Tfs*21 c.524delT 12 125397794 CM A T Missense p.I669N c.2006T>A 12 125396312 STAD A T Missense p.L84H c.251T>A 12 125398067 BRCA A T Synonymous p.T7T c.21T>A 12 125398297 STAD CAACCTCTGCTGGTCAGGAGGAATGC - Frameshift p.G111Dfs*15 c.332_357delGCATTCCTCCTGACCAGCAGAGGTTG 12 125397961 OV C A Missense p.D419Y c.1255G>T 12 125397063 BRCA C A Nonsense p.E320* c.958G>T 12 125397360 LUAD C A Synonymous p.V146V c.438G>T 12 125397880 LUSC C G Missense p.D32H c.94G>C 12 125398224 HNSC C G Missense p.E244Q c.730G>C 12 125397588 HNSC C G Missense p.G123A c.368G>C 12 125397950 BRCA C G Missense p.K105N c.315G>C 12 125398003 STAD C G Missense p.K409N c.1227G>C 12 125397091 LUAD C G Missense p.Q117H c.351G>C 12 125397967 HNSC C T Missense p.D21N c.61G>A 12 125398257 CLL C T Missense p.D412N c.1234G>A 12 125397084 LUAD C T Missense p.D52N c.154G>A 12 125398164 OV C T Missense p.E110K c.328G>A 12 125397990 LUAD C T Synonymous p.G76G c.228G>A 12 125398090 PRAD C T Synonymous p.K635K c.1905G>A 12 125396413 NB C T Synonymous p.L651L c.1953G>A 12 125396365 BLCA C T Synonymous p.V374V c.1122G>A 12 125397196 HNSC G A 5-UTRSNV . c.1-38C>T 12 125398355 CM G A Missense p.A350V c.1049C>T 12 125397269 GBM G A Missense p.L167F c.499C>T 12 125397819 CM G A Missense p.R452C c.1354C>T 12 125396964 BRCA G A Missense p.T402I c.1205C>T 12 125397113 CM G A Nonsense p.Q116* c.346C>T 12 125397972 HNSC G A Synonymous p.F232F c.696C>T 12 125397622 CM G A Synonymous p.H600H c.1800C>T 12 125396518 CM G A Synonymous p.H68H c.204C>T 12 125398114 ESCA G A Synonymous p.I99I c.297C>T 12 125398021 COREAD G A Synonymous p.L167L c.501C>T 12 125397817 LUSC G A Synonymous p.L301L c.903C>T 12 125397415 CM G A Synonymous p.L377L c.1131C>T 12 125397187 RCCC G A Synonymous p.L471L c.1413C>T 12 125396905 UCEC G A Synonymous p.L605L c.1815C>T 12 125396503 CM G A Synonymous p.T283T c.849C>T 12 125397469 LUAD G A Synonymous p.T98T c.294C>T 12 125398024 HNSC G C Missense p.I137M c.411C>G 12 125397907 LUAD G C Missense p.L208V c.622C>G 12 125397696 OV G C Missense p.Q125E c.373C>G 12 125397945 BRCA G C Synonymous p.P171P c.513C>G 12 125397805 HNSC - G Frameshift p.I545Hfs*9 c.1632dupC 12 125396686 BRCA - G Frameshift p.Q563Pfs*9 c.1687dupC 12 125396631 BRCA G T Missense p.L373M c.1117C>A 12 125397201 GBM G T Missense p.R72S c.214C>A 12 125398104 LUAD T A Nonsense p.K234* c.700A>T 12 125397618 CM T C 3-UTRSNV . c.2055+64A>G 12 125396199 CM TCCTTGTCCTGGA - Frameshift p.I106Kfs*10 c.317_329delTCCAGGACAAGGA 12 125397989 BRCA T C Missense p.I182V c.544A>G 12 125397774 UCEC T C Missense p.I30V c.88A>G 12 125398230 HNSC T C Missense p.K234E c.700A>G 12 125397618 LUSC T C Missense p.K239E c.715A>G 12 125397603 CLL T C Missense p.K33E c.97A>G 12 125398221 MM T C Missense p.K391E c.1171A>G 12 125397147 LGG T C Missense p.T207A c.619A>G 12 125397699 UCEC T C Missense p.T389A c.1165A>G 12 125397153 RCCC T C Synonymous p.G351G c.1053A>G 12 125397265 HNSC T C Synonymous p.V222V c.666A>G 12 125397652 CM TCTT - Frameshift p.K139Sfs*18 c.416_419delAAGA 12 125397899 UCEC TGA - InFrameDeletion p.I89delI c.266_268delTCA 12 125398050 RCCC T G Missense p.E176A c.527A>C 12 125397791 LUAD T G Missense p.T617P c.1849A>C 12 125396469 BRCA TGT - InFrameDeletion p.N668delN c.2003_2005delACA 12 125396313 UCEC