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 ACC 12 109940954 109940954 + Missense_Mutation SNP C C T TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr12:109940954C>T c.1409C>T c.(1408-1410)tCg>tTg p.S470L ACC 12 109947450 109947450 + Nonsense_Mutation SNP G G T TCGA-OR-A5LA-01A-11D-A29I-10 TCGA-OR-A5LA-10A-01D-A29L-10 g.chr12:109947450G>T c.1672G>T c.(1672-1674)Gaa>Taa p.E558* ACC 12 109959270 109959270 + Missense_Mutation SNP T T C TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr12:109959270T>C c.2278T>C c.(2278-2280)Tac>Cac p.Y760H BLCA 12 109921372 109921372 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr12:109921372C>G c.16C>G c.(16-18)Cag>Gag p.Q6E BLCA 12 109921380 109921380 + Silent SNP G G A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr12:109921380G>A c.24G>A c.(22-24)tcG>tcA p.S8S BLCA 12 109921406 109921406 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr12:109921406G>A c.50G>A c.(49-51)cGt>cAt p.R17H BLCA 12 109927742 109927742 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 g.chr12:109927742C>T c.563C>T c.(562-564)gCg>gTg p.A188V BLCA 12 109927779 109927779 + Silent SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr12:109927779C>G c.600C>G c.(598-600)ctC>ctG p.L200L BLCA 12 109928922 109928922 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr12:109928922C>G c.703C>G c.(703-705)Cta>Gta p.L235V BLCA 12 109935646 109935646 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr12:109935646C>T c.737C>T c.(736-738)tCa>tTa p.S246L BLCA 12 109935699 109935699 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr12:109935699G>A c.790G>A c.(790-792)Gtg>Atg p.V264M BLCA 12 109937445 109937445 + Silent SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr12:109937445C>G c.948C>G c.(946-948)ctC>ctG p.L316L BLCA 12 109939197 109939197 + Silent SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr12:109939197G>A c.1140G>A c.(1138-1140)ttG>ttA p.L380L BLCA 12 109939251 109939251 + Missense_Mutation SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr12:109939251C>A c.1194C>A c.(1192-1194)ttC>ttA p.F398L BLCA 12 109940840 109940840 + Missense_Mutation SNP G G A TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr12:109940840G>A c.1295G>A c.(1294-1296)cGt>cAt p.R432H BLCA 12 109940905 109940905 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr12:109940905T>A c.1360T>A c.(1360-1362)Tct>Act p.S454T BLCA 12 109940962 109940962 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr12:109940962A>G c.1417A>G c.(1417-1419)Act>Gct p.T473A BLCA 12 109945373 109945373 + Silent SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr12:109945373C>G c.1455C>G c.(1453-1455)ctC>ctG p.L485L BLCA 12 109948159 109948159 + Missense_Mutation SNP G G T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 g.chr12:109948159G>T c.1752G>T c.(1750-1752)aaG>aaT p.K584N BLCA 12 109954657 109954657 + Missense_Mutation SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr12:109954657C>T c.2044C>T c.(2044-2046)Cac>Tac p.H682Y BLCA 12 109959263 109959263 + Silent SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr12:109959263G>A c.2271G>A c.(2269-2271)gaG>gaA p.E757E BLCA 12 109961811 109961811 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr12:109961811C>G c.2393C>G c.(2392-2394)tCc>tGc p.S798C BLCA 12 109971290 109971290 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr12:109971290G>A c.2942G>A c.(2941-2943)aGa>aAa p.R981K BRCA 12 109926431 109926431 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:109926431A>C c.502A>C c.(502-504)Acc>Ccc p.T168P BRCA 12 109928922 109928922 + Missense_Mutation SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 g.chr12:109928922C>G c.703C>G c.(703-705)Cta>Gta p.L235V BRCA 12 109935652 109935652 + Missense_Mutation SNP A A G TCGA-A7-A4SA-01A-11D-A25Q-09 TCGA-A7-A4SA-10A-01D-A25Q-09 g.chr12:109935652A>G c.743A>G c.(742-744)aAt>aGt p.N248S BRCA 12 109937548 109937548 + Nonsense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:109937548C>T c.1051C>T c.(1051-1053)Cag>Tag p.Q351* BRCA 12 109948241 109948241 + Missense_Mutation SNP C C G TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 g.chr12:109948241C>G c.1834C>G c.(1834-1836)Ccc>Gcc p.P612A BRCA 12 109958979 109958979 + Silent SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr12:109958979C>G c.2103C>G c.(2101-2103)ctC>ctG p.L701L BRCA 12 109959017 109959017 + Missense_Mutation SNP T T C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 g.chr12:109959017T>C c.2141T>C c.(2140-2142)tTt>tCt p.F714S BRCA 12 109959091 109959091 + Missense_Mutation SNP A A T TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr12:109959091A>T c.2215A>T c.(2215-2217)Atc>Ttc p.I739F BRCA 12 109967700 109967700 + Missense_Mutation SNP G G C TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 g.chr12:109967700G>C c.2633G>C c.(2632-2634)aGc>aCc p.S878T BRCA 12 109972557 109972557 + Missense_Mutation SNP C C G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 g.chr12:109972557C>G c.3177C>G c.(3175-3177)atC>atG p.I1059M CESC 12 109947443 109947443 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr12:109947443C>T c.1665C>T c.(1663-1665)ttC>ttT p.F555F CESC 12 109947445 109947445 + Missense_Mutation SNP A A T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr12:109947445A>T c.1667A>T c.(1666-1668)aAa>aTa p.K556I CESC 12 109948163 109948163 + Missense_Mutation SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 g.chr12:109948163G>A c.1756G>A c.(1756-1758)Gag>Aag p.E586K CHOL 12 109927743 109927743 + Silent SNP G G T TCGA-4G-AAZT-01A-11D-A417-09 TCGA-4G-AAZT-10A-01D-A41A-09 g.chr12:109927743G>T c.564G>T c.(562-564)gcG>gcT p.A188A COAD 12 109921415 109921415 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr12:109921415G>A c.59G>A c.(58-60)cGa>cAa p.R20Q COAD 12 109927742 109927742 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:109927742C>T c.563C>T c.(562-564)gCg>gTg p.A188V COAD 12 109936071 109936071 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:109936071C>T c.853C>T c.(853-855)Cgt>Tgt p.R285C COAD 12 109936079 109936079 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:109936079C>T c.861C>T c.(859-861)ttC>ttT p.F287F COAD 12 109936111 109936111 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:109936111G>A c.893G>A c.(892-894)cGt>cAt p.R298H COAD 12 109948214 109948214 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr12:109948214G>A c.1807G>A c.(1807-1809)Gag>Aag p.E603K COAD 12 109959258 109959258 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr12:109959258G>A c.2266G>A c.(2266-2268)Gat>Aat p.D756N COAD 12 109961846 109961846 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:109961846A>G c.2428A>G c.(2428-2430)Agc>Ggc p.S810G COAD 12 109961915 109961915 + Missense_Mutation SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr12:109961915A>G c.2497A>G c.(2497-2499)Atc>Gtc p.I833V COAD 12 109961916 109961916 + Missense_Mutation SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr12:109961916T>C c.2498T>C c.(2497-2499)aTc>aCc p.I833T COAD 12 109961916 109961916 + Missense_Mutation SNP T T C TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr12:109961916T>C c.2498T>C c.(2497-2499)aTc>aCc p.I833T COAD 12 109961917 109961917 + Silent SNP C C A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr12:109961917C>A c.2499C>A c.(2497-2499)atC>atA p.I833I COAD 12 109971310 109971310 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr12:109971310G>A c.2962G>A c.(2962-2964)Gcc>Acc p.A988T COAD 12 109972401 109972401 + Silent SNP C C T TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr12:109972401C>T c.3021C>T c.(3019-3021)acC>acT p.T1007T COAD 12 109972419 109972419 + Silent SNP C C T TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr12:109972419C>T c.3039C>T c.(3037-3039)agC>agT p.S1013S COAD 12 109972569 109972569 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:109972569G>A c.3189G>A c.(3187-3189)acG>acA p.T1063T COADREAD 12 109921415 109921415 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr12:109921415G>A c.59G>A c.(58-60)cGa>cAa p.R20Q COADREAD 12 109924290 109924290 + Silent SNP C C T TCGA-AG-3583-01A-01W-0831-10 TCGA-AG-3583-10A-01W-0831-10 g.chr12:109924290C>T c.357C>T c.(355-357)tcC>tcT p.S119S COADREAD 12 109927742 109927742 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:109927742C>T c.563C>T c.(562-564)gCg>gTg p.A188V COADREAD 12 109935660 109935660 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109935660C>T c.751C>T c.(751-753)Cgg>Tgg p.R251W COADREAD 12 109936071 109936071 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:109936071C>T c.853C>T c.(853-855)Cgt>Tgt p.R285C COADREAD 12 109936079 109936079 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:109936079C>T c.861C>T c.(859-861)ttC>ttT p.F287F COADREAD 12 109936111 109936111 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:109936111G>A c.893G>A c.(892-894)cGt>cAt p.R298H COADREAD 12 109940887 109940887 + Missense_Mutation SNP G G A TCGA-AG-3608-01A-01W-0833-10 TCGA-AG-3608-10A-01W-0833-10 g.chr12:109940887G>A c.1342G>A c.(1342-1344)Ggg>Agg p.G448R COADREAD 12 109947484 109947484 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109947484C>A c.1706C>A c.(1705-1707)tCt>tAt p.S569Y COADREAD 12 109948214 109948214 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr12:109948214G>A c.1807G>A c.(1807-1809)Gag>Aag p.E603K COADREAD 12 109959258 109959258 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr12:109959258G>A c.2266G>A c.(2266-2268)Gat>Aat p.D756N COADREAD 12 109961846 109961846 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:109961846A>G c.2428A>G c.(2428-2430)Agc>Ggc p.S810G COADREAD 12 109961915 109961915 + Missense_Mutation SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr12:109961915A>G c.2497A>G c.(2497-2499)Atc>Gtc p.I833V COADREAD 12 109961916 109961916 + Missense_Mutation SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr12:109961916T>C c.2498T>C c.(2497-2499)aTc>aCc p.I833T COADREAD 12 109961916 109961916 + Missense_Mutation SNP T T C TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr12:109961916T>C c.2498T>C c.(2497-2499)aTc>aCc p.I833T COADREAD 12 109961917 109961917 + Silent SNP C C A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr12:109961917C>A c.2499C>A c.(2497-2499)atC>atA p.I833I COADREAD 12 109964214 109964214 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109964214G>T c.2620G>T c.(2620-2622)Gaa>Taa p.E874* COADREAD 12 109971310 109971310 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr12:109971310G>A c.2962G>A c.(2962-2964)Gcc>Acc p.A988T COADREAD 12 109972401 109972401 + Silent SNP C C T TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr12:109972401C>T c.3021C>T c.(3019-3021)acC>acT p.T1007T COADREAD 12 109972419 109972419 + Silent SNP C C T TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr12:109972419C>T c.3039C>T c.(3037-3039)agC>agT p.S1013S COADREAD 12 109972419 109972419 + Silent SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr12:109972419C>T c.3039C>T c.(3037-3039)agC>agT p.S1013S COADREAD 12 109972569 109972569 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:109972569G>A c.3189G>A c.(3187-3189)acG>acA p.T1063T DLBC 12 109972462 109972462 + Missense_Mutation SNP G G A TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr12:109972462G>A c.3082G>A c.(3082-3084)Ggc>Agc p.G1028S ESCA 12 109924360 109924360 + Missense_Mutation SNP G G T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr12:109924360G>T c.427G>T c.(427-429)Gat>Tat p.D143Y ESCA 12 109937476 109937476 + Missense_Mutation SNP T T A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr12:109937476T>A c.979T>A c.(979-981)Tta>Ata p.L327I ESCA 12 109959273 109959273 + Missense_Mutation SNP C C A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr12:109959273C>A c.2281C>A c.(2281-2283)Ccc>Acc p.P761T ESCA 12 109959339 109959339 + Missense_Mutation SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr12:109959339G>C c.2347G>C c.(2347-2349)Ggg>Cgg p.G783R ESCA 12 109972420 109972420 + Missense_Mutation SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr12:109972420G>A c.3040G>A c.(3040-3042)Gtc>Atc p.V1014I GBM 12 109921388 109921388 + Nonsense_Mutation SNP G G A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 g.chr12:109921388G>A c.32G>A c.(31-33)tGg>tAg p.W11* GBMLGG 12 109921388 109921388 + Nonsense_Mutation SNP G G A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 g.chr12:109921388G>A c.32G>A c.(31-33)tGg>tAg p.W11* GBMLGG 12 109926386 109926386 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:109926386C>A c.457C>A c.(457-459)Ctg>Atg p.L153M GBMLGG 12 109945392 109945392 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:109945392C>T c.1474C>T c.(1474-1476)Ctt>Ttt p.L492F HNSC 12 109921470 109921470 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 g.chr12:109921470C>T c.114C>T c.(112-114)gcC>gcT p.A38A HNSC 12 109927763 109927763 + Missense_Mutation SNP A A G TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 g.chr12:109927763A>G c.584A>G c.(583-585)aAt>aGt p.N195S HNSC 12 109937499 109937499 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr12:109937499C>T c.1002C>T c.(1000-1002)ttC>ttT p.F334F HNSC 12 109945505 109945505 + Silent SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr12:109945505G>A c.1587G>A c.(1585-1587)ctG>ctA p.L529L HNSC 12 109948151 109948151 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:109948151A>G c.1744A>G c.(1744-1746)Aac>Gac p.N582D HNSC 12 109948218 109948218 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 g.chr12:109948218G>A c.1811G>A c.(1810-1812)cGg>cAg p.R604Q HNSC 12 109959106 109959106 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr12:109959106G>C c.2230G>C c.(2230-2232)Gac>Cac p.D744H HNSC 12 109972413 109972413 + Silent SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 g.chr12:109972413G>T c.3033G>T c.(3031-3033)ctG>ctT p.L1011L HNSC 12 109972414 109972414 + Missense_Mutation SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 g.chr12:109972414G>T c.3034G>T c.(3034-3036)Ggc>Tgc p.G1012C HNSC 12 109972428 109972428 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr12:109972428G>A c.3048G>A c.(3046-3048)cgG>cgA p.R1016R HNSC 12 109972546 109972546 + Missense_Mutation SNP C C T TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 g.chr12:109972546C>T c.3166C>T c.(3166-3168)Cgc>Tgc p.R1056C HNSC 12 109972570 109972570 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 g.chr12:109972570G>T c.3190G>T c.(3190-3192)Ggc>Tgc p.G1064C KIPAN 12 109935725 109935725 + Silent SNP T T C TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr12:109935725T>C c.816T>C c.(814-816)ccT>ccC p.P272P KIPAN 12 109939265 109939265 + Missense_Mutation SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr12:109939265G>A c.1208G>A c.(1207-1209)aGc>aAc p.S403N KIPAN 12 109961880 109961880 + Frame_Shift_Del DEL C C - TCGA-5P-A9JU-01A-11D-A42J-10 TCGA-5P-A9JU-10A-01D-A42M-10 g.chr12:109961880delC c.2462delC c.(2461-2463)tctfs p.S821fs KIPAN 12 109967774 109967774 + Missense_Mutation SNP T T A TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr12:109967774T>A c.2707T>A c.(2707-2709)Ttc>Atc p.F903I KIRC 12 109935725 109935725 + Silent SNP T T C TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr12:109935725T>C c.816T>C c.(814-816)ccT>ccC p.P272P KIRC 12 109939265 109939265 + Missense_Mutation SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr12:109939265G>A c.1208G>A c.(1207-1209)aGc>aAc p.S403N KIRC 12 109967774 109967774 + Missense_Mutation SNP T T A TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr12:109967774T>A c.2707T>A c.(2707-2709)Ttc>Atc p.F903I KIRP 12 109961880 109961880 + Frame_Shift_Del DEL C C - TCGA-5P-A9JU-01A-11D-A42J-10 TCGA-5P-A9JU-10A-01D-A42M-10 g.chr12:109961880delC c.2462delC c.(2461-2463)tctfs p.S821fs LGG 12 109926386 109926386 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:109926386C>A c.457C>A c.(457-459)Ctg>Atg p.L153M LGG 12 109945392 109945392 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:109945392C>T c.1474C>T c.(1474-1476)Ctt>Ttt p.L492F LIHC 12 109921448 109921448 + Frame_Shift_Del DEL G G - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr12:109921448delG c.92delG c.(91-93)cggfs p.R31fs LIHC 12 109921745 109921745 + Missense_Mutation SNP A A T TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr12:109921745A>T c.241A>T c.(241-243)Agg>Tgg p.R81W LIHC 12 109959357 109959357 + Splice_Site SNP G G T TCGA-2Y-A9H1-01A-11D-A382-10 TCGA-2Y-A9H1-10A-01D-A385-10 g.chr12:109959357G>T c.e21+1 LIHC 12 109968392 109968392 + Nonsense_Mutation SNP A A T TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr12:109968392A>T c.2851A>T c.(2851-2853)Aga>Tga p.R951* LUAD 12 109921434 109921434 + Silent SNP G G A TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr12:109921434G>A c.78G>A c.(76-78)caG>caA p.Q26Q LUAD 12 109921467 109921467 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 g.chr12:109921467G>T c.111G>T c.(109-111)caG>caT p.Q37H LUAD 12 109935654 109935654 + Missense_Mutation SNP C C G TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr12:109935654C>G c.745C>G c.(745-747)Ctg>Gtg p.L249V LUAD 12 109935710 109935710 + Silent SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr12:109935710C>G c.801C>G c.(799-801)ctC>ctG p.L267L LUAD 12 109936051 109936051 + Missense_Mutation SNP T T C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr12:109936051T>C c.833T>C c.(832-834)tTa>tCa p.L278S LUAD 12 109936113 109936113 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 g.chr12:109936113G>A c.895G>A c.(895-897)Gat>Aat p.D299N LUAD 12 109940927 109940927 + Missense_Mutation SNP G G T TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr12:109940927G>T c.1382G>T c.(1381-1383)tGc>tTc p.C461F LUAD 12 109948150 109948150 + Splice_Site SNP G G T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr12:109948150G>T c.1743G>T c.(1741-1743)gaG>gaT p.E581D LUAD 12 109972414 109972414 + Missense_Mutation SNP G G C TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr12:109972414G>C c.3034G>C c.(3034-3036)Ggc>Cgc p.G1012R LUAD 12 109972426 109972426 + Missense_Mutation SNP C C T TCGA-69-7760-01A-11D-2167-08 TCGA-69-7760-10A-01D-2167-08 g.chr12:109972426C>T c.3046C>T c.(3046-3048)Cgg>Tgg p.R1016W LUAD 12 109972579 109972579 + Missense_Mutation SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr12:109972579C>G c.3199C>G c.(3199-3201)Ctc>Gtc p.L1067V LUSC 12 109921676 109921676 + Missense_Mutation SNP G G A TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 g.chr12:109921676G>A c.172G>A c.(172-174)Gat>Aat p.D58N LUSC 12 109937553 109937553 + Missense_Mutation SNP G G C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr12:109937553G>C c.1056G>C c.(1054-1056)aaG>aaC p.K352N LUSC 12 109949053 109949053 + Missense_Mutation SNP G G A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 g.chr12:109949053G>A c.1901G>A c.(1900-1902)aGa>aAa p.R634K LUSC 12 109962291 109962291 + Nonsense_Mutation SNP G G T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr12:109962291G>T c.2551G>T c.(2551-2553)Gag>Tag p.E851* LUSC 12 109971309 109971309 + Silent SNP C C T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr12:109971309C>T c.2961C>T c.(2959-2961)ttC>ttT p.F987F OV 12 109940840 109940840 + Missense_Mutation SNP G G A TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 g.chr12:109940840G>A c.1295G>A c.(1294-1296)cGt>cAt p.R432H OV 12 109961915 109961915 + Missense_Mutation SNP A A T TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 g.chr12:109961915A>T c.2497A>T c.(2497-2499)Atc>Ttc p.I833F OV 12 109968395 109968395 + Missense_Mutation SNP G G T TCGA-24-1419-01A-01W-0545-08 TCGA-24-1419-10A-01W-0545-08 g.chr12:109968395G>T c.2854G>T c.(2854-2856)Gtc>Ttc p.V952F PAAD 12 109959007 109959007 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:109959007C>T c.2131C>T c.(2131-2133)Cgt>Tgt p.R711C PAAD 12 109967770 109967770 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:109967770C>T c.2703C>T c.(2701-2703)agC>agT p.S901S PRAD 12 109948242 109948242 + Missense_Mutation SNP C C G TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 g.chr12:109948242C>G c.1835C>G c.(1834-1836)cCc>cGc p.P612R READ 12 109924290 109924290 + Silent SNP C C T TCGA-AG-3583-01A-01W-0831-10 TCGA-AG-3583-10A-01W-0831-10 g.chr12:109924290C>T c.357C>T c.(355-357)tcC>tcT p.S119S READ 12 109935660 109935660 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109935660C>T c.751C>T c.(751-753)Cgg>Tgg p.R251W READ 12 109940887 109940887 + Missense_Mutation SNP G G A TCGA-AG-3608-01A-01W-0833-10 TCGA-AG-3608-10A-01W-0833-10 g.chr12:109940887G>A c.1342G>A c.(1342-1344)Ggg>Agg p.G448R READ 12 109947484 109947484 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109947484C>A c.1706C>A c.(1705-1707)tCt>tAt p.S569Y READ 12 109964214 109964214 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109964214G>T c.2620G>T c.(2620-2622)Gaa>Taa p.E874* READ 12 109972419 109972419 + Silent SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr12:109972419C>T c.3039C>T c.(3037-3039)agC>agT p.S1013S SARC 12 109921780 109921780 + Silent SNP T T C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 g.chr12:109921780T>C c.276T>C c.(274-276)gaT>gaC p.D92D SARC 12 109948259 109948259 + Nonsense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 g.chr12:109948259C>T c.1852C>T c.(1852-1854)Cga>Tga p.R618* SARC 12 109949045 109949045 + Silent SNP C C T TCGA-3B-A9HS-01A-11D-A38Z-09 TCGA-3B-A9HS-10A-01D-A38Z-09 g.chr12:109949045C>T c.1893C>T c.(1891-1893)gaC>gaT p.D631D SKCM 12 109921395 109921395 + Silent SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr12:109921395C>T c.39C>T c.(37-39)atC>atT p.I13I SKCM 12 109926454 109926454 + Nonsense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chr12:109926454G>A c.525G>A c.(523-525)tgG>tgA p.W175* SKCM 12 109926464 109926464 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:109926464C>T c.535C>T c.(535-537)Cgg>Tgg p.R179W SKCM 12 109928861 109928861 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr12:109928861C>T c.642C>T c.(640-642)acC>acT p.T214T SKCM 12 109935691 109935691 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:109935691C>T c.782C>T c.(781-783)cCt>cTt p.P261L SKCM 12 109936079 109936079 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr12:109936079C>T c.861C>T c.(859-861)ttC>ttT p.F287F SKCM 12 109937499 109937499 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:109937499C>T c.1002C>T c.(1000-1002)ttC>ttT p.F334F SKCM 12 109939175 109939175 + Splice_Site SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr12:109939175G>A c.e13-1 SKCM 12 109940943 109940943 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr12:109940943C>T c.1398C>T c.(1396-1398)ctC>ctT p.L466L SKCM 12 109945401 109945401 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr12:109945401C>T c.1483C>T c.(1483-1485)Ctg>Ttg p.L495L SKCM 12 109947476 109947476 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr12:109947476C>T c.1698C>T c.(1696-1698)ttC>ttT p.F566F SKCM 12 109954637 109954637 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr12:109954637C>T c.2024C>T c.(2023-2025)tCt>tTt p.S675F SKCM 12 109959293 109959293 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr12:109959293C>T c.2301C>T c.(2299-2301)atC>atT p.I767I SKCM 12 109967761 109967761 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr12:109967761C>T c.2694C>T c.(2692-2694)gcC>gcT p.A898A SKCM 12 109971273 109971273 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:109971273C>T c.2925C>T c.(2923-2925)ttC>ttT p.F975F SKCM 12 109971326 109971326 + Missense_Mutation SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr12:109971326C>T c.2978C>T c.(2977-2979)cCa>cTa p.P993L

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 109935648 109935648 single base substitution G A exon_variant BLCA-CN 12 109935648 109935648 single base substitution G A missense_variant D247N 739G>A BLCA-CN 12 109935648 109935648 single base substitution G A upstream_gene_variant BLCA-US 12 109927742 109927742 single base substitution C T exon_variant BLCA-US 12 109927742 109927742 single base substitution C T missense_variant A188V 563C>T BLCA-US 12 109927779 109927779 single base substitution C G exon_variant BLCA-US 12 109927779 109927779 single base substitution C G synonymous_variant L200L 600C>G BLCA-US 12 109928922 109928922 single base substitution C G 3_prime_UTR_variant BLCA-US 12 109928922 109928922 single base substitution C G downstream_gene_variant BLCA-US 12 109928922 109928922 single base substitution C G exon_variant BLCA-US 12 109928922 109928922 single base substitution C G missense_variant L235V 703C>G BLCA-US 12 109935646 109935646 single base substitution C T exon_variant BLCA-US 12 109935646 109935646 single base substitution C T missense_variant S246L 737C>T BLCA-US 12 109935646 109935646 single base substitution C T upstream_gene_variant BLCA-US 12 109935699 109935699 single base substitution G A exon_variant BLCA-US 12 109935699 109935699 single base substitution G A missense_variant V264M 790G>A BLCA-US 12 109935699 109935699 single base substitution G A upstream_gene_variant BLCA-US 12 109937445 109937445 single base substitution C G exon_variant BLCA-US 12 109937445 109937445 single base substitution C G synonymous_variant L316L 948C>G BLCA-US 12 109937445 109937445 single base substitution C G upstream_gene_variant BLCA-US 12 109939197 109939197 single base substitution G A exon_variant BLCA-US 12 109939197 109939197 single base substitution G A synonymous_variant L380L 1140G>A BLCA-US 12 109939197 109939197 single base substitution G A upstream_gene_variant BLCA-US 12 109939251 109939251 single base substitution C A exon_variant BLCA-US 12 109939251 109939251 single base substitution C A missense_variant F398L 1194C>A BLCA-US 12 109940905 109940905 single base substitution T A exon_variant BLCA-US 12 109940905 109940905 single base substitution T A missense_variant S454T 1360T>A BLCA-US 12 109940962 109940962 single base substitution A G exon_variant BLCA-US 12 109940962 109940962 single base substitution A G missense_variant T473A 1417A>G BLCA-US 12 109961811 109961811 single base substitution C G 3_prime_UTR_variant BLCA-US 12 109961811 109961811 single base substitution C G exon_variant BLCA-US 12 109961811 109961811 single base substitution C G missense_variant S798C 2393C>G BLCA-US 12 109971290 109971290 single base substitution G A 3_prime_UTR_variant BLCA-US 12 109971290 109971290 single base substitution G A exon_variant BLCA-US 12 109971290 109971290 single base substitution G A missense_variant R68K 203G>A BLCA-US 12 109971290 109971290 single base substitution G A missense_variant R92K 275G>A BLCA-US 12 109971290 109971290 single base substitution G A missense_variant R981K 2942G>A BOCA-FR 12 109975367 109975367 single base substitution C T downstream_gene_variant BRCA-EU 12 109911548 109911548 single base substitution C G upstream_gene_variant BRCA-EU 12 109913122 109913122 single base substitution A T upstream_gene_variant BRCA-EU 12 109913477 109913477 single base substitution T G upstream_gene_variant BRCA-EU 12 109914227 109914227 single base substitution T C upstream_gene_variant BRCA-EU 12 109916276 109916276 single base substitution A G intron_variant BRCA-EU 12 109916309 109916309 single base substitution G A intron_variant BRCA-EU 12 109917176 109917176 single base substitution G A intron_variant BRCA-EU 12 109919080 109919080 single base substitution C T intron_variant BRCA-EU 12 109920651 109920651 single base substitution G C intron_variant BRCA-EU 12 109920832 109920832 single base substitution G T intron_variant BRCA-EU 12 109921682 109921682 deletion of <=200bp T - exon_variant BRCA-EU 12 109921682 109921682 deletion of <=200bp T - frameshift_variant F60 BRCA-EU 12 109922232 109922232 single base substitution T A downstream_gene_variant BRCA-EU 12 109922232 109922232 single base substitution T A intron_variant BRCA-EU 12 109924311 109924311 single base substitution C G downstream_gene_variant BRCA-EU 12 109924311 109924311 single base substitution C G exon_variant BRCA-EU 12 109924311 109924311 single base substitution C G synonymous_variant L126L 378C>G BRCA-EU 12 109924695 109924695 single base substitution C A downstream_gene_variant BRCA-EU 12 109924695 109924695 single base substitution C A intron_variant BRCA-EU 12 109925511 109925511 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 109925511 109925511 insertion of <=200bp - A intron_variant BRCA-EU 12 109927067 109927067 single base substitution G C intron_variant BRCA-EU 12 109927779 109927779 single base substitution C T exon_variant BRCA-EU 12 109927779 109927779 single base substitution C T synonymous_variant L200L 600C>T BRCA-EU 12 109927787 109927787 single base substitution A G exon_variant BRCA-EU 12 109927787 109927787 single base substitution A G missense_variant H203R 608A>G BRCA-EU 12 109928750 109928750 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 12 109928750 109928750 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 109928750 109928750 deletion of <=200bp T - intron_variant BRCA-EU 12 109931340 109931340 single base substitution G C downstream_gene_variant BRCA-EU 12 109931340 109931340 single base substitution G C intron_variant BRCA-EU 12 109931546 109931546 single base substitution T C downstream_gene_variant BRCA-EU 12 109931546 109931546 single base substitution T C intron_variant BRCA-EU 12 109935478 109935478 single base substitution T G downstream_gene_variant BRCA-EU 12 109935478 109935478 single base substitution T G intron_variant BRCA-EU 12 109935478 109935478 single base substitution T G upstream_gene_variant BRCA-EU 12 109937779 109937779 single base substitution C A intron_variant BRCA-EU 12 109937779 109937779 single base substitution C A upstream_gene_variant BRCA-EU 12 109940855 109940855 single base substitution C T exon_variant BRCA-EU 12 109940855 109940855 single base substitution C T missense_variant S437L 1310C>T BRCA-EU 12 109940906 109940906 single base substitution C T exon_variant BRCA-EU 12 109940906 109940906 single base substitution C T missense_variant S454F 1361C>T BRCA-EU 12 109941811 109941811 single base substitution C G intron_variant BRCA-EU 12 109941811 109941811 single base substitution C G upstream_gene_variant BRCA-EU 12 109942332 109942332 single base substitution G C intron_variant BRCA-EU 12 109942332 109942332 single base substitution G C upstream_gene_variant BRCA-EU 12 109942333 109942333 single base substitution A T intron_variant BRCA-EU 12 109942333 109942333 single base substitution A T upstream_gene_variant BRCA-EU 12 109943103 109943103 single base substitution G C intron_variant BRCA-EU 12 109943103 109943103 single base substitution G C upstream_gene_variant BRCA-EU 12 109944084 109944084 single base substitution A C intron_variant BRCA-EU 12 109944084 109944084 single base substitution A C upstream_gene_variant BRCA-EU 12 109944256 109944256 single base substitution C T intron_variant BRCA-EU 12 109944256 109944256 single base substitution C T upstream_gene_variant BRCA-EU 12 109944865 109944865 deletion of <=200bp T - intron_variant BRCA-EU 12 109944865 109944865 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 109945154 109945154 single base substitution T C intron_variant BRCA-EU 12 109945154 109945154 single base substitution T C upstream_gene_variant BRCA-EU 12 109945626 109945626 single base substitution G A intron_variant BRCA-EU 12 109945626 109945626 single base substitution G A upstream_gene_variant BRCA-EU 12 109945723 109945723 single base substitution G A intron_variant BRCA-EU 12 109945723 109945723 single base substitution G A upstream_gene_variant BRCA-EU 12 109946814 109946814 single base substitution A G exon_variant BRCA-EU 12 109946814 109946814 single base substitution A G intron_variant BRCA-EU 12 109949061 109949061 single base substitution G A exon_variant BRCA-EU 12 109949061 109949061 single base substitution G A missense_variant A637T 1909G>A BRCA-EU 12 109949575 109949575 single base substitution G A downstream_gene_variant BRCA-EU 12 109949575 109949575 single base substitution G A intron_variant BRCA-EU 12 109949576 109949576 single base substitution G A downstream_gene_variant BRCA-EU 12 109949576 109949576 single base substitution G A intron_variant BRCA-EU 12 109950127 109950127 single base substitution C T downstream_gene_variant BRCA-EU 12 109950127 109950127 single base substitution C T intron_variant BRCA-EU 12 109950354 109950354 single base substitution G C downstream_gene_variant BRCA-EU 12 109950354 109950354 single base substitution G C intron_variant BRCA-EU 12 109951575 109951575 single base substitution G A downstream_gene_variant BRCA-EU 12 109951575 109951575 single base substitution G A intron_variant BRCA-EU 12 109953533 109953533 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 109953533 109953533 deletion of <=200bp A - intron_variant BRCA-EU 12 109953533 109953533 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 109953773 109953773 single base substitution T C downstream_gene_variant BRCA-EU 12 109953773 109953773 single base substitution T C intron_variant BRCA-EU 12 109953773 109953773 single base substitution T C upstream_gene_variant BRCA-EU 12 109954334 109954334 single base substitution G C intron_variant BRCA-EU 12 109954334 109954334 single base substitution G C upstream_gene_variant BRCA-EU 12 109956288 109956288 single base substitution G T downstream_gene_variant BRCA-EU 12 109956288 109956288 single base substitution G T intron_variant BRCA-EU 12 109956288 109956288 single base substitution G T upstream_gene_variant BRCA-EU 12 109956473 109956473 single base substitution C T downstream_gene_variant BRCA-EU 12 109956473 109956473 single base substitution C T intron_variant BRCA-EU 12 109956473 109956473 single base substitution C T upstream_gene_variant BRCA-EU 12 109956680 109956682 deletion of <=200bp GTC - downstream_gene_variant BRCA-EU 12 109956680 109956682 deletion of <=200bp GTC - intron_variant BRCA-EU 12 109956680 109956682 deletion of <=200bp GTC - upstream_gene_variant BRCA-EU 12 109957694 109957694 single base substitution C T downstream_gene_variant BRCA-EU 12 109957694 109957694 single base substitution C T exon_variant BRCA-EU 12 109957694 109957694 single base substitution C T intron_variant BRCA-EU 12 109960851 109960851 single base substitution C G intron_variant BRCA-EU 12 109961015 109961015 single base substitution C G intron_variant BRCA-EU 12 109962428 109962461 deletion of <=200bp CTCCCCACCCCTCGCCCATCCTCCTCCCCTCTTG - downstream_gene_variant BRCA-EU 12 109962428 109962461 deletion of <=200bp CTCCCCACCCCTCGCCCATCCTCCTCCCCTCTTG - intron_variant BRCA-EU 12 109965695 109965695 single base substitution G C downstream_gene_variant BRCA-EU 12 109965695 109965695 single base substitution G C intron_variant BRCA-EU 12 109965695 109965695 single base substitution G C upstream_gene_variant BRCA-EU 12 109966386 109966386 single base substitution C T downstream_gene_variant BRCA-EU 12 109966386 109966386 single base substitution C T intron_variant BRCA-EU 12 109966386 109966386 single base substitution C T upstream_gene_variant BRCA-EU 12 109966398 109966398 single base substitution C G downstream_gene_variant BRCA-EU 12 109966398 109966398 single base substitution C G intron_variant BRCA-EU 12 109966398 109966398 single base substitution C G upstream_gene_variant BRCA-EU 12 109966762 109966762 single base substitution G C downstream_gene_variant BRCA-EU 12 109966762 109966762 single base substitution G C intron_variant BRCA-EU 12 109966762 109966762 single base substitution G C upstream_gene_variant BRCA-EU 12 109967765 109967765 single base substitution A T 3_prime_UTR_variant BRCA-EU 12 109967765 109967765 single base substitution A T 5_prime_UTR_variant BRCA-EU 12 109967765 109967765 single base substitution A T downstream_gene_variant BRCA-EU 12 109967765 109967765 single base substitution A T exon_variant BRCA-EU 12 109967765 109967765 single base substitution A T missense_variant I11F 31A>T BRCA-EU 12 109967765 109967765 single base substitution A T missense_variant I900F 2698A>T BRCA-EU 12 109968327 109968327 single base substitution G A downstream_gene_variant BRCA-EU 12 109968327 109968327 single base substitution G A intron_variant BRCA-EU 12 109968805 109968805 single base substitution C G downstream_gene_variant BRCA-EU 12 109968805 109968805 single base substitution C G intron_variant BRCA-EU 12 109969271 109969271 single base substitution T C intron_variant BRCA-EU 12 109969303 109969303 single base substitution G C intron_variant BRCA-EU 12 109970080 109970080 single base substitution T A intron_variant BRCA-EU 12 109970312 109970312 single base substitution T G intron_variant BRCA-EU 12 109973010 109973010 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 109973010 109973010 single base substitution C T downstream_gene_variant BRCA-EU 12 109973045 109973045 single base substitution A T 3_prime_UTR_variant BRCA-EU 12 109973045 109973045 single base substitution A T downstream_gene_variant BRCA-EU 12 109974092 109974158 deletion of <=200bp CAAACGCTCGGTTCCTTTGAAGATTTCTTCTGAACGTGTGTGCGCACGCTGGGCGGGTTCGTGCATA - 3_prime_UTR_variant BRCA-EU 12 109974092 109974158 deletion of <=200bp CAAACGCTCGGTTCCTTTGAAGATTTCTTCTGAACGTGTGTGCGCACGCTGGGCGGGTTCGTGCATA - downstream_gene_variant BRCA-EU 12 109976719 109976719 single base substitution A C downstream_gene_variant BRCA-EU 12 109977357 109977357 single base substitution G A downstream_gene_variant BRCA-EU 12 109979104 109979104 single base substitution G A downstream_gene_variant BRCA-FR 12 109918905 109918905 single base substitution G A intron_variant BRCA-FR 12 109927779 109927779 single base substitution C T exon_variant BRCA-FR 12 109927779 109927779 single base substitution C T synonymous_variant L200L 600C>T BRCA-FR 12 109937840 109937840 single base substitution T C intron_variant BRCA-FR 12 109937840 109937840 single base substitution T C upstream_gene_variant BRCA-FR 12 109940906 109940906 single base substitution C T exon_variant BRCA-FR 12 109940906 109940906 single base substitution C T missense_variant S454F 1361C>T BRCA-FR 12 109961966 109961966 single base substitution C T downstream_gene_variant BRCA-FR 12 109961966 109961966 single base substitution C T intron_variant BRCA-FR 12 109966398 109966398 single base substitution C G downstream_gene_variant BRCA-FR 12 109966398 109966398 single base substitution C G intron_variant BRCA-FR 12 109966398 109966398 single base substitution C G upstream_gene_variant BRCA-FR 12 109966762 109966762 single base substitution G C downstream_gene_variant BRCA-FR 12 109966762 109966762 single base substitution G C intron_variant BRCA-FR 12 109966762 109966762 single base substitution G C upstream_gene_variant BRCA-FR 12 109968327 109968327 single base substitution G A downstream_gene_variant BRCA-FR 12 109968327 109968327 single base substitution G A intron_variant BRCA-FR 12 109977357 109977357 single base substitution G A downstream_gene_variant BRCA-KR 12 109962247 109962247 single base substitution A G 3_prime_UTR_variant BRCA-KR 12 109962247 109962247 single base substitution A G downstream_gene_variant BRCA-KR 12 109962247 109962247 single base substitution A G exon_variant BRCA-KR 12 109962247 109962247 single base substitution A G missense_variant Y836C 2507A>G BRCA-UK 12 109918838 109918838 single base substitution A G intron_variant BRCA-UK 12 109939318 109939318 single base substitution C G exon_variant BRCA-UK 12 109939318 109939318 single base substitution C G missense_variant Q421E 1261C>G BRCA-UK 12 109940861 109940861 single base substitution C G exon_variant BRCA-UK 12 109940861 109940861 single base substitution C G stop_gained S439* 1316C>G BRCA-UK 12 109949845 109949845 single base substitution G A downstream_gene_variant BRCA-UK 12 109949845 109949845 single base substitution G A intron_variant BRCA-UK 12 109954348 109954348 single base substitution G A intron_variant BRCA-UK 12 109954348 109954348 single base substitution G A upstream_gene_variant BRCA-UK 12 109957829 109957829 single base substitution G A downstream_gene_variant BRCA-UK 12 109957829 109957829 single base substitution G A exon_variant BRCA-UK 12 109957829 109957829 single base substitution G A intron_variant BRCA-US 12 109926431 109926431 single base substitution A C downstream_gene_variant BRCA-US 12 109926431 109926431 single base substitution A C exon_variant BRCA-US 12 109926431 109926431 single base substitution A C missense_variant T168P 502A>C BRCA-US 12 109935652 109935652 single base substitution A G exon_variant BRCA-US 12 109935652 109935652 single base substitution A G missense_variant N248S 743A>G BRCA-US 12 109935652 109935652 single base substitution A G upstream_gene_variant BRCA-US 12 109937548 109937548 single base substitution C T exon_variant BRCA-US 12 109937548 109937548 single base substitution C T stop_gained Q351* 1051C>T BRCA-US 12 109937548 109937548 single base substitution C T upstream_gene_variant BRCA-US 12 109948241 109948241 single base substitution C G exon_variant BRCA-US 12 109948241 109948241 single base substitution C G missense_variant P612A 1834C>G BRCA-US 12 109958979 109958979 single base substitution C G 3_prime_UTR_variant BRCA-US 12 109958979 109958979 single base substitution C G downstream_gene_variant BRCA-US 12 109958979 109958979 single base substitution C G exon_variant BRCA-US 12 109958979 109958979 single base substitution C G synonymous_variant L701L 2103C>G BRCA-US 12 109959017 109959017 single base substitution T C 3_prime_UTR_variant BRCA-US 12 109959017 109959017 single base substitution T C downstream_gene_variant BRCA-US 12 109959017 109959017 single base substitution T C exon_variant BRCA-US 12 109959017 109959017 single base substitution T C missense_variant F714S 2141T>C BRCA-US 12 109959091 109959091 single base substitution A T 3_prime_UTR_variant BRCA-US 12 109959091 109959091 single base substitution A T downstream_gene_variant BRCA-US 12 109959091 109959091 single base substitution A T exon_variant BRCA-US 12 109959091 109959091 single base substitution A T missense_variant I739F 2215A>T BRCA-US 12 109972557 109972557 single base substitution C G downstream_gene_variant BRCA-US 12 109972557 109972557 single base substitution C G exon_variant BRCA-US 12 109972557 109972557 single base substitution C G missense_variant I1059M 3177C>G BTCA-JP 12 109915099 109915099 single base substitution C A upstream_gene_variant BTCA-JP 12 109921406 109921406 single base substitution G A exon_variant BTCA-JP 12 109921406 109921406 single base substitution G A missense_variant R17H 50G>A BTCA-JP 12 109921643 109921643 deletion of <=200bp T - intron_variant BTCA-JP 12 109924385 109924385 single base substitution C A downstream_gene_variant BTCA-JP 12 109924385 109924385 single base substitution C A splice_region_variant BTCA-JP 12 109926271 109926278 deletion of <=200bp TCAGTGAT - downstream_gene_variant BTCA-JP 12 109926271 109926278 deletion of <=200bp TCAGTGAT - intron_variant BTCA-JP 12 109928459 109928459 single base substitution A G 3_prime_UTR_variant BTCA-JP 12 109928459 109928459 single base substitution A G intron_variant BTCA-JP 12 109935530 109935530 single base substitution A C downstream_gene_variant BTCA-JP 12 109935530 109935530 single base substitution A C intron_variant BTCA-JP 12 109935530 109935530 single base substitution A C upstream_gene_variant BTCA-JP 12 109935857 109935857 single base substitution G A intron_variant BTCA-JP 12 109935857 109935857 single base substitution G A upstream_gene_variant BTCA-JP 12 109961773 109961773 single base substitution G A intron_variant BTCA-JP 12 109968608 109968608 single base substitution C T downstream_gene_variant BTCA-JP 12 109968608 109968608 single base substitution C T intron_variant CESC-US 12 109947443 109947443 single base substitution C T exon_variant CESC-US 12 109947443 109947443 single base substitution C T intron_variant CESC-US 12 109947443 109947443 single base substitution C T synonymous_variant F555F 1665C>T CESC-US 12 109947445 109947445 single base substitution A T exon_variant CESC-US 12 109947445 109947445 single base substitution A T intron_variant CESC-US 12 109947445 109947445 single base substitution A T missense_variant K556I 1667A>T CESC-US 12 109948163 109948163 single base substitution G A exon_variant CESC-US 12 109948163 109948163 single base substitution G A missense_variant E586K 1756G>A CLLE-ES 12 109927791 109927791 single base substitution A T exon_variant CLLE-ES 12 109927791 109927791 single base substitution A T synonymous_variant G204G 612A>T CLLE-ES 12 109941475 109941475 single base substitution C A intron_variant CLLE-ES 12 109941475 109941475 single base substitution C A upstream_gene_variant CLLE-ES 12 109947651 109947651 single base substitution T C intron_variant CLLE-ES 12 109947696 109947696 single base substitution G A intron_variant CLLE-ES 12 109953064 109953064 single base substitution A G downstream_gene_variant CLLE-ES 12 109953064 109953064 single base substitution A G intron_variant CLLE-ES 12 109953064 109953064 single base substitution A G upstream_gene_variant CLLE-ES 12 109967364 109967364 single base substitution A G downstream_gene_variant CLLE-ES 12 109967364 109967364 single base substitution A G intron_variant CLLE-ES 12 109967364 109967364 single base substitution A G upstream_gene_variant CLLE-ES 12 109978693 109978693 single base substitution G C downstream_gene_variant COAD-US 12 109921415 109921415 single base substitution G A exon_variant COAD-US 12 109921415 109921415 single base substitution G A missense_variant R20Q 59G>A COAD-US 12 109927742 109927742 single base substitution C T exon_variant COAD-US 12 109927742 109927742 single base substitution C T missense_variant A188V 563C>T COAD-US 12 109936056 109936056 single base substitution T C exon_variant COAD-US 12 109936056 109936056 single base substitution T C missense_variant S280P 838T>C COAD-US 12 109936056 109936056 single base substitution T C upstream_gene_variant COAD-US 12 109936071 109936071 single base substitution C T exon_variant COAD-US 12 109936071 109936071 single base substitution C T missense_variant R285C 853C>T COAD-US 12 109936071 109936071 single base substitution C T upstream_gene_variant COAD-US 12 109936079 109936079 single base substitution C T exon_variant COAD-US 12 109936079 109936079 single base substitution C T synonymous_variant F287F 861C>T COAD-US 12 109936079 109936079 single base substitution C T upstream_gene_variant COAD-US 12 109936111 109936111 single base substitution G A exon_variant COAD-US 12 109936111 109936111 single base substitution G A missense_variant R298H 893G>A COAD-US 12 109936111 109936111 single base substitution G A upstream_gene_variant COAD-US 12 109949043 109949043 single base substitution G A exon_variant COAD-US 12 109949043 109949043 single base substitution G A missense_variant D631N 1891G>A COAD-US 12 109961846 109961846 single base substitution A G 3_prime_UTR_variant COAD-US 12 109961846 109961846 single base substitution A G exon_variant COAD-US 12 109961846 109961846 single base substitution A G missense_variant S810G 2428A>G COAD-US 12 109967721 109967721 single base substitution A G 3_prime_UTR_variant COAD-US 12 109967721 109967721 single base substitution A G downstream_gene_variant COAD-US 12 109967721 109967721 single base substitution A G exon_variant COAD-US 12 109967721 109967721 single base substitution A G missense_variant H885R 2654A>G COAD-US 12 109967721 109967721 single base substitution A G upstream_gene_variant COAD-US 12 109971310 109971310 single base substitution G A 3_prime_UTR_variant COAD-US 12 109971310 109971310 single base substitution G A exon_variant COAD-US 12 109971310 109971310 single base substitution G A missense_variant A75T 223G>A COAD-US 12 109971310 109971310 single base substitution G A missense_variant A988T 2962G>A COAD-US 12 109971310 109971310 single base substitution G A missense_variant A99T 295G>A COAD-US 12 109972401 109972401 single base substitution C T 3_prime_UTR_variant COAD-US 12 109972401 109972401 single base substitution C T downstream_gene_variant COAD-US 12 109972401 109972401 single base substitution C T exon_variant COAD-US 12 109972401 109972401 single base substitution C T synonymous_variant T1007T 3021C>T COAD-US 12 109972419 109972419 single base substitution C T 3_prime_UTR_variant COAD-US 12 109972419 109972419 single base substitution C T downstream_gene_variant COAD-US 12 109972419 109972419 single base substitution C T exon_variant COAD-US 12 109972419 109972419 single base substitution C T synonymous_variant S1013S 3039C>T COAD-US 12 109972569 109972569 single base substitution G A downstream_gene_variant COAD-US 12 109972569 109972569 single base substitution G A exon_variant COAD-US 12 109972569 109972569 single base substitution G A synonymous_variant T1063T 3189G>A COCA-CN 12 109915048 109915048 single base substitution G T upstream_gene_variant COCA-CN 12 109926461 109926461 single base substitution C A downstream_gene_variant COCA-CN 12 109926461 109926461 single base substitution C A exon_variant COCA-CN 12 109926461 109926461 single base substitution C A missense_variant L178I 532C>A COCA-CN 12 109935662 109935662 single base substitution G A exon_variant COCA-CN 12 109935662 109935662 single base substitution G A synonymous_variant R251R 753G>A COCA-CN 12 109935662 109935662 single base substitution G A upstream_gene_variant COCA-CN 12 109936038 109936038 single base substitution C T missense_variant R274C 820C>T COCA-CN 12 109936038 109936038 single base substitution C T splice_region_variant COCA-CN 12 109936038 109936038 single base substitution C T upstream_gene_variant COCA-CN 12 109948016 109948016 single base substitution C A intron_variant COCA-CN 12 109948260 109948260 single base substitution G A exon_variant COCA-CN 12 109948260 109948260 single base substitution G A missense_variant R618Q 1853G>A COCA-CN 12 109949042 109949042 single base substitution C T exon_variant COCA-CN 12 109949042 109949042 single base substitution C T synonymous_variant L630L 1890C>T COCA-CN 12 109962287 109962287 single base substitution C T 3_prime_UTR_variant COCA-CN 12 109962287 109962287 single base substitution C T downstream_gene_variant COCA-CN 12 109962287 109962287 single base substitution C T exon_variant COCA-CN 12 109962287 109962287 single base substitution C T synonymous_variant Y849Y 2547C>T COCA-CN 12 109965046 109965046 single base substitution A G downstream_gene_variant COCA-CN 12 109965046 109965046 single base substitution A G intron_variant COCA-CN 12 109965046 109965046 single base substitution A G upstream_gene_variant COCA-CN 12 109971273 109971273 single base substitution C T splice_region_variant COCA-CN 12 109971550 109971550 single base substitution C T intron_variant COCA-CN 12 109971550 109971550 single base substitution C T missense_variant A122V 365C>T COCA-CN 12 109971550 109971550 single base substitution C T missense_variant A146V 437C>T COCA-CN 12 109972369 109972369 single base substitution A T downstream_gene_variant COCA-CN 12 109972369 109972369 single base substitution A T exon_variant COCA-CN 12 109972369 109972369 single base substitution A T intron_variant EOPC-DE 12 109916066 109916066 single base substitution G A intron_variant EOPC-DE 12 109963962 109963962 single base substitution A G downstream_gene_variant EOPC-DE 12 109963962 109963962 single base substitution A G intron_variant EOPC-DE 12 109963962 109963962 single base substitution A G upstream_gene_variant ESAD-UK 12 109912133 109912133 single base substitution T C upstream_gene_variant ESAD-UK 12 109912377 109912377 single base substitution A G upstream_gene_variant ESAD-UK 12 109912514 109912514 single base substitution C A upstream_gene_variant ESAD-UK 12 109915310 109915310 single base substitution C A 5_prime_UTR_variant ESAD-UK 12 109915310 109915310 single base substitution C A upstream_gene_variant ESAD-UK 12 109917647 109917647 single base substitution T C intron_variant ESAD-UK 12 109918715 109918715 single base substitution T A intron_variant ESAD-UK 12 109920390 109920390 single base substitution A G intron_variant ESAD-UK 12 109923143 109923143 single base substitution C T downstream_gene_variant ESAD-UK 12 109923143 109923143 single base substitution C T intron_variant ESAD-UK 12 109924804 109924804 single base substitution G A downstream_gene_variant ESAD-UK 12 109924804 109924804 single base substitution G A intron_variant ESAD-UK 12 109926574 109926574 single base substitution G A downstream_gene_variant ESAD-UK 12 109926574 109926574 single base substitution G A intron_variant ESAD-UK 12 109927030 109927030 single base substitution G A intron_variant ESAD-UK 12 109928410 109928410 single base substitution T C 3_prime_UTR_variant ESAD-UK 12 109928410 109928410 single base substitution T C intron_variant ESAD-UK 12 109931594 109931594 single base substitution G A downstream_gene_variant ESAD-UK 12 109931594 109931594 single base substitution G A intron_variant ESAD-UK 12 109934401 109934401 single base substitution T A downstream_gene_variant ESAD-UK 12 109934401 109934401 single base substitution T A intron_variant ESAD-UK 12 109934401 109934401 single base substitution T A upstream_gene_variant ESAD-UK 12 109939974 109939974 single base substitution A C intron_variant ESAD-UK 12 109952965 109952965 single base substitution G A downstream_gene_variant ESAD-UK 12 109952965 109952965 single base substitution G A intron_variant ESAD-UK 12 109952965 109952965 single base substitution G A upstream_gene_variant ESAD-UK 12 109957092 109957092 single base substitution C T downstream_gene_variant ESAD-UK 12 109957092 109957092 single base substitution C T intron_variant ESAD-UK 12 109957092 109957092 single base substitution C T upstream_gene_variant ESAD-UK 12 109957863 109957863 single base substitution C T downstream_gene_variant ESAD-UK 12 109957863 109957863 single base substitution C T exon_variant ESAD-UK 12 109957863 109957863 single base substitution C T intron_variant ESAD-UK 12 109959002 109959002 single base substitution T C 3_prime_UTR_variant ESAD-UK 12 109959002 109959002 single base substitution T C downstream_gene_variant ESAD-UK 12 109959002 109959002 single base substitution T C exon_variant ESAD-UK 12 109959002 109959002 single base substitution T C missense_variant V709A 2126T>C ESAD-UK 12 109962794 109962794 single base substitution C T downstream_gene_variant ESAD-UK 12 109962794 109962794 single base substitution C T intron_variant ESAD-UK 12 109962794 109962794 single base substitution C T upstream_gene_variant ESAD-UK 12 109963876 109963876 single base substitution C G downstream_gene_variant ESAD-UK 12 109963876 109963876 single base substitution C G intron_variant ESAD-UK 12 109963876 109963876 single base substitution C G upstream_gene_variant ESAD-UK 12 109967692 109967692 single base substitution C T downstream_gene_variant ESAD-UK 12 109967692 109967692 single base substitution C T intron_variant ESAD-UK 12 109967692 109967692 single base substitution C T splice_region_variant ESAD-UK 12 109967692 109967692 single base substitution C T upstream_gene_variant ESAD-UK 12 109968848 109968848 single base substitution T C downstream_gene_variant ESAD-UK 12 109968848 109968848 single base substitution T C intron_variant ESAD-UK 12 109970585 109970585 single base substitution A C intron_variant ESAD-UK 12 109970878 109970878 single base substitution C G intron_variant ESAD-UK 12 109971192 109971192 single base substitution C T intron_variant ESAD-UK 12 109974760 109974760 single base substitution G C downstream_gene_variant ESAD-UK 12 109974867 109974867 single base substitution C T downstream_gene_variant ESAD-UK 12 109976595 109976595 single base substitution G A downstream_gene_variant ESAD-UK 12 109977031 109977031 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 109977096 109977096 single base substitution T C downstream_gene_variant ESAD-UK 12 109977392 109977392 single base substitution C T downstream_gene_variant ESCA-CN 12 109949025 109949025 single base substitution G A exon_variant ESCA-CN 12 109949025 109949025 single base substitution G A missense_variant V625M 1873G>A ESCA-CN 12 109961911 109961911 single base substitution C T 3_prime_UTR_variant ESCA-CN 12 109961911 109961911 single base substitution C T downstream_gene_variant ESCA-CN 12 109961911 109961911 single base substitution C T exon_variant ESCA-CN 12 109961911 109961911 single base substitution C T synonymous_variant T831T 2493C>T ESCA-CN 12 109971328 109971328 single base substitution T G 3_prime_UTR_variant ESCA-CN 12 109971328 109971328 single base substitution T G exon_variant ESCA-CN 12 109971328 109971328 single base substitution T G missense_variant F105V 313T>G ESCA-CN 12 109971328 109971328 single base substitution T G missense_variant F81V 241T>G ESCA-CN 12 109971328 109971328 single base substitution T G missense_variant F994V 2980T>G GBM-US 12 109921388 109921388 single base substitution G A exon_variant GBM-US 12 109921388 109921388 single base substitution G A stop_gained W11* 32G>A KIRC-US 12 109935725 109935725 single base substitution T C exon_variant KIRC-US 12 109935725 109935725 single base substitution T C synonymous_variant P272P 816T>C KIRC-US 12 109935725 109935725 single base substitution T C upstream_gene_variant KIRC-US 12 109961798 109961798 single base substitution G A 3_prime_UTR_variant KIRC-US 12 109961798 109961798 single base substitution G A exon_variant KIRC-US 12 109961798 109961798 single base substitution G A missense_variant V794M 2380G>A KIRC-US 12 109967774 109967774 single base substitution T A 3_prime_UTR_variant KIRC-US 12 109967774 109967774 single base substitution T A 5_prime_UTR_variant KIRC-US 12 109967774 109967774 single base substitution T A downstream_gene_variant KIRC-US 12 109967774 109967774 single base substitution T A exon_variant KIRC-US 12 109967774 109967774 single base substitution T A missense_variant F14I 40T>A KIRC-US 12 109967774 109967774 single base substitution T A missense_variant F903I 2707T>A KIRP-US 12 109939240 109939240 single base substitution C T exon_variant KIRP-US 12 109939240 109939240 single base substitution C T missense_variant R395W 1183C>T LAML-KR 12 109962582 109962582 single base substitution G A downstream_gene_variant LAML-KR 12 109962582 109962582 single base substitution G A intron_variant LAML-KR 12 109968427 109968427 single base substitution C T 3_prime_UTR_variant LAML-KR 12 109968427 109968427 single base substitution C T downstream_gene_variant LAML-KR 12 109968427 109968427 single base substitution C T exon_variant LAML-KR 12 109968427 109968427 single base substitution C T synonymous_variant S49S 147C>T LAML-KR 12 109968427 109968427 single base substitution C T synonymous_variant S73S 219C>T LAML-KR 12 109968427 109968427 single base substitution C T synonymous_variant S962S 2886C>T LICA-CN 12 109921439 109921439 single base substitution A G exon_variant LICA-CN 12 109921439 109921439 single base substitution A G missense_variant E28G 83A>G LICA-CN 12 109921695 109921695 single base substitution A T exon_variant LICA-CN 12 109921695 109921695 single base substitution A T missense_variant D64V 191A>T LICA-CN 12 109968358 109968358 single base substitution C T 3_prime_UTR_variant LICA-CN 12 109968358 109968358 single base substitution C T downstream_gene_variant LICA-CN 12 109968358 109968358 single base substitution C T exon_variant LICA-CN 12 109968358 109968358 single base substitution C T synonymous_variant H26H 78C>T LICA-CN 12 109968358 109968358 single base substitution C T synonymous_variant H50H 150C>T LICA-CN 12 109968358 109968358 single base substitution C T synonymous_variant H939H 2817C>T LICA-FR 12 109929950 109929950 single base substitution T C 3_prime_UTR_variant LICA-FR 12 109929950 109929950 single base substitution T C downstream_gene_variant LICA-FR 12 109929950 109929950 single base substitution T C intron_variant LICA-FR 12 109930142 109930142 single base substitution G A 3_prime_UTR_variant LICA-FR 12 109930142 109930142 single base substitution G A downstream_gene_variant LICA-FR 12 109930142 109930142 single base substitution G A intron_variant LICA-FR 12 109939182 109939182 single base substitution C A exon_variant LICA-FR 12 109939182 109939182 single base substitution C A missense_variant N375K 1125C>A LICA-FR 12 109939182 109939182 single base substitution C A upstream_gene_variant LICA-FR 12 109939309 109939309 single base substitution G A exon_variant LICA-FR 12 109939309 109939309 single base substitution G A missense_variant A418T 1252G>A LICA-FR 12 109940901 109940901 single base substitution C T exon_variant LICA-FR 12 109940901 109940901 single base substitution C T synonymous_variant V452V 1356C>T LICA-FR 12 109964676 109964676 insertion of <=200bp - A downstream_gene_variant LICA-FR 12 109964676 109964676 insertion of <=200bp - A intron_variant LICA-FR 12 109964676 109964676 insertion of <=200bp - A upstream_gene_variant LICA-FR 12 109967586 109967586 single base substitution T C downstream_gene_variant LICA-FR 12 109967586 109967586 single base substitution T C intron_variant LICA-FR 12 109967586 109967586 single base substitution T C upstream_gene_variant LICA-FR 12 109972535 109972535 single base substitution G A downstream_gene_variant LICA-FR 12 109972535 109972535 single base substitution G A exon_variant LICA-FR 12 109972535 109972535 single base substitution G A missense_variant R1052H 3155G>A LIHC-US 12 109939174 109939174 single base substitution A G splice_acceptor_variant LIHC-US 12 109939174 109939174 single base substitution A G upstream_gene_variant LIHC-US 12 109972536 109972536 single base substitution C T downstream_gene_variant LIHC-US 12 109972536 109972536 single base substitution C T exon_variant LIHC-US 12 109972536 109972536 single base substitution C T synonymous_variant R1052R 3156C>T LINC-JP 12 109910527 109910527 single base substitution T C upstream_gene_variant LINC-JP 12 109916180 109916180 single base substitution A G intron_variant LINC-JP 12 109921321 109921321 single base substitution C T intron_variant LINC-JP 12 109923768 109923768 single base substitution T G downstream_gene_variant LINC-JP 12 109923768 109923768 single base substitution T G intron_variant LINC-JP 12 109924385 109924385 single base substitution C A downstream_gene_variant LINC-JP 12 109924385 109924385 single base substitution C A splice_region_variant LINC-JP 12 109925947 109925947 single base substitution G A downstream_gene_variant LINC-JP 12 109925947 109925947 single base substitution G A intron_variant LINC-JP 12 109926285 109926285 single base substitution C T downstream_gene_variant LINC-JP 12 109926285 109926285 single base substitution C T intron_variant LINC-JP 12 109928114 109928114 single base substitution G A 3_prime_UTR_variant LINC-JP 12 109928114 109928114 single base substitution G A intron_variant LINC-JP 12 109929219 109929219 single base substitution C A 3_prime_UTR_variant LINC-JP 12 109929219 109929219 single base substitution C A downstream_gene_variant LINC-JP 12 109929219 109929219 single base substitution C A intron_variant LINC-JP 12 109936289 109936289 single base substitution A G intron_variant LINC-JP 12 109936289 109936289 single base substitution A G upstream_gene_variant LINC-JP 12 109937682 109937682 single base substitution T G intron_variant LINC-JP 12 109937682 109937682 single base substitution T G upstream_gene_variant LINC-JP 12 109939189 109939197 deletion of <=200bp ATGCACTTG - exon_variant LINC-JP 12 109939189 109939197 deletion of <=200bp ATGCACTTG - inframe_deletion MHL378 LINC-JP 12 109939189 109939197 deletion of <=200bp ATGCACTTG - upstream_gene_variant LINC-JP 12 109958960 109958960 single base substitution A G 3_prime_UTR_variant LINC-JP 12 109958960 109958960 single base substitution A G downstream_gene_variant LINC-JP 12 109958960 109958960 single base substitution A G exon_variant LINC-JP 12 109958960 109958960 single base substitution A G missense_variant Y695C 2084A>G LINC-JP 12 109975019 109975019 deletion of <=200bp T - downstream_gene_variant LIRI-JP 12 109910991 109910991 single base substitution G A upstream_gene_variant LIRI-JP 12 109911536 109911536 single base substitution T C upstream_gene_variant LIRI-JP 12 109913986 109913986 single base substitution T C upstream_gene_variant LIRI-JP 12 109917780 109917780 insertion of <=200bp - T intron_variant LIRI-JP 12 109918273 109918273 single base substitution T G intron_variant LIRI-JP 12 109918290 109918290 single base substitution T C intron_variant LIRI-JP 12 109919213 109919213 single base substitution A G intron_variant LIRI-JP 12 109920334 109920334 single base substitution T C intron_variant LIRI-JP 12 109921560 109921560 single base substitution A G intron_variant LIRI-JP 12 109923002 109923002 single base substitution A G downstream_gene_variant LIRI-JP 12 109923002 109923002 single base substitution A G intron_variant LIRI-JP 12 109926397 109926397 single base substitution C T downstream_gene_variant LIRI-JP 12 109926397 109926397 single base substitution C T exon_variant LIRI-JP 12 109926397 109926397 single base substitution C T synonymous_variant S156S 468C>T LIRI-JP 12 109928008 109928008 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 109928008 109928008 single base substitution G A intron_variant LIRI-JP 12 109929276 109929276 deletion of <=200bp C - 3_prime_UTR_variant LIRI-JP 12 109929276 109929276 deletion of <=200bp C - downstream_gene_variant LIRI-JP 12 109929276 109929276 deletion of <=200bp C - intron_variant LIRI-JP 12 109930406 109930406 single base substitution G T 3_prime_UTR_variant LIRI-JP 12 109930406 109930406 single base substitution G T downstream_gene_variant LIRI-JP 12 109930406 109930406 single base substitution G T intron_variant LIRI-JP 12 109931207 109931207 single base substitution C G downstream_gene_variant LIRI-JP 12 109931207 109931207 single base substitution C G intron_variant LIRI-JP 12 109934484 109934484 single base substitution A G downstream_gene_variant LIRI-JP 12 109934484 109934484 single base substitution A G intron_variant LIRI-JP 12 109934484 109934484 single base substitution A G upstream_gene_variant LIRI-JP 12 109937613 109937613 single base substitution T C splice_region_variant LIRI-JP 12 109937613 109937613 single base substitution T C upstream_gene_variant LIRI-JP 12 109938556 109938556 single base substitution C T intron_variant LIRI-JP 12 109938556 109938556 single base substitution C T upstream_gene_variant LIRI-JP 12 109938765 109938765 single base substitution G T intron_variant LIRI-JP 12 109938765 109938765 single base substitution G T upstream_gene_variant LIRI-JP 12 109941861 109941861 single base substitution C T intron_variant LIRI-JP 12 109941861 109941861 single base substitution C T upstream_gene_variant LIRI-JP 12 109942135 109942135 single base substitution A C intron_variant LIRI-JP 12 109942135 109942135 single base substitution A C upstream_gene_variant LIRI-JP 12 109948873 109948873 single base substitution A G intron_variant LIRI-JP 12 109950255 109950255 single base substitution C T downstream_gene_variant LIRI-JP 12 109950255 109950255 single base substitution C T intron_variant LIRI-JP 12 109952741 109952741 single base substitution C T downstream_gene_variant LIRI-JP 12 109952741 109952741 single base substitution C T intron_variant LIRI-JP 12 109952741 109952741 single base substitution C T upstream_gene_variant LIRI-JP 12 109953537 109953537 single base substitution A G downstream_gene_variant LIRI-JP 12 109953537 109953537 single base substitution A G intron_variant LIRI-JP 12 109953537 109953537 single base substitution A G upstream_gene_variant LIRI-JP 12 109954538 109954538 single base substitution C T intron_variant LIRI-JP 12 109954538 109954538 single base substitution C T upstream_gene_variant LIRI-JP 12 109956099 109956099 single base substitution G A downstream_gene_variant LIRI-JP 12 109956099 109956099 single base substitution G A intron_variant LIRI-JP 12 109956099 109956099 single base substitution G A upstream_gene_variant LIRI-JP 12 109958717 109958717 single base substitution T C downstream_gene_variant LIRI-JP 12 109958717 109958717 single base substitution T C exon_variant LIRI-JP 12 109958717 109958717 single base substitution T C intron_variant LIRI-JP 12 109959204 109959204 single base substitution A T downstream_gene_variant LIRI-JP 12 109959204 109959204 single base substitution A T intron_variant LIRI-JP 12 109959535 109959535 single base substitution C G downstream_gene_variant LIRI-JP 12 109959535 109959535 single base substitution C G intron_variant LIRI-JP 12 109960517 109960517 single base substitution G A downstream_gene_variant LIRI-JP 12 109960517 109960517 single base substitution G A intron_variant LIRI-JP 12 109960966 109960966 single base substitution A T intron_variant LIRI-JP 12 109962618 109962618 single base substitution A G downstream_gene_variant LIRI-JP 12 109962618 109962618 single base substitution A G intron_variant LIRI-JP 12 109962883 109962883 single base substitution C T downstream_gene_variant LIRI-JP 12 109962883 109962883 single base substitution C T intron_variant LIRI-JP 12 109962883 109962883 single base substitution C T upstream_gene_variant LIRI-JP 12 109963141 109963141 single base substitution A T downstream_gene_variant LIRI-JP 12 109963141 109963141 single base substitution A T intron_variant LIRI-JP 12 109963141 109963141 single base substitution A T upstream_gene_variant LIRI-JP 12 109963957 109963957 single base substitution G A downstream_gene_variant LIRI-JP 12 109963957 109963957 single base substitution G A intron_variant LIRI-JP 12 109963957 109963957 single base substitution G A upstream_gene_variant LIRI-JP 12 109965639 109965639 single base substitution T A downstream_gene_variant LIRI-JP 12 109965639 109965639 single base substitution T A intron_variant LIRI-JP 12 109965639 109965639 single base substitution T A upstream_gene_variant LIRI-JP 12 109967840 109967840 single base substitution T G 3_prime_UTR_variant LIRI-JP 12 109967840 109967840 single base substitution T G downstream_gene_variant LIRI-JP 12 109967840 109967840 single base substitution T G exon_variant LIRI-JP 12 109967840 109967840 single base substitution T G missense_variant S12A 34T>G LIRI-JP 12 109967840 109967840 single base substitution T G missense_variant S36A 106T>G LIRI-JP 12 109967840 109967840 single base substitution T G missense_variant S925A 2773T>G LIRI-JP 12 109973221 109973221 single base substitution C T 3_prime_UTR_variant LIRI-JP 12 109973221 109973221 single base substitution C T downstream_gene_variant LUSC-KR 12 109910728 109910728 single base substitution C T upstream_gene_variant LUSC-KR 12 109912332 109912332 single base substitution C T upstream_gene_variant LUSC-KR 12 109914712 109914712 single base substitution G A upstream_gene_variant LUSC-KR 12 109915235 109915235 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 12 109915235 109915235 single base substitution A G upstream_gene_variant LUSC-KR 12 109922600 109922600 single base substitution G A downstream_gene_variant LUSC-KR 12 109922600 109922600 single base substitution G A intron_variant LUSC-KR 12 109926296 109926296 single base substitution T C downstream_gene_variant LUSC-KR 12 109926296 109926296 single base substitution T C intron_variant LUSC-KR 12 109928849 109928849 single base substitution G C 3_prime_UTR_variant LUSC-KR 12 109928849 109928849 single base substitution G C downstream_gene_variant LUSC-KR 12 109928849 109928849 single base substitution G C splice_acceptor_variant LUSC-KR 12 109929650 109929650 single base substitution C G 3_prime_UTR_variant LUSC-KR 12 109929650 109929650 single base substitution C G downstream_gene_variant LUSC-KR 12 109929650 109929650 single base substitution C G intron_variant LUSC-KR 12 109930412 109930412 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 109930412 109930412 single base substitution G A downstream_gene_variant LUSC-KR 12 109930412 109930412 single base substitution G A intron_variant LUSC-KR 12 109932396 109932396 single base substitution G T downstream_gene_variant LUSC-KR 12 109932396 109932396 single base substitution G T intron_variant LUSC-KR 12 109935160 109935160 single base substitution A G downstream_gene_variant LUSC-KR 12 109935160 109935160 single base substitution A G intron_variant LUSC-KR 12 109935160 109935160 single base substitution A G upstream_gene_variant LUSC-KR 12 109946221 109946221 single base substitution G C intron_variant LUSC-KR 12 109946221 109946221 single base substitution G C upstream_gene_variant LUSC-KR 12 109946600 109946600 single base substitution G A exon_variant LUSC-KR 12 109946600 109946600 single base substitution G A intron_variant LUSC-KR 12 109950648 109950648 single base substitution C T downstream_gene_variant LUSC-KR 12 109950648 109950648 single base substitution C T intron_variant LUSC-KR 12 109954647 109954647 single base substitution G A exon_variant LUSC-KR 12 109954647 109954647 single base substitution G A synonymous_variant P678P 2034G>A LUSC-KR 12 109954647 109954647 single base substitution G A upstream_gene_variant LUSC-KR 12 109961214 109961214 single base substitution G T intron_variant LUSC-KR 12 109972645 109972645 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 109972645 109972645 single base substitution G A downstream_gene_variant LUSC-KR 12 109972645 109972645 single base substitution G A exon_variant LUSC-KR 12 109975908 109975908 single base substitution A C downstream_gene_variant LUSC-US 12 109921676 109921676 single base substitution G A exon_variant LUSC-US 12 109921676 109921676 single base substitution G A missense_variant D58N 172G>A LUSC-US 12 109937553 109937553 single base substitution G C exon_variant LUSC-US 12 109937553 109937553 single base substitution G C missense_variant K352N 1056G>C LUSC-US 12 109937553 109937553 single base substitution G C upstream_gene_variant LUSC-US 12 109949053 109949053 single base substitution G A exon_variant LUSC-US 12 109949053 109949053 single base substitution G A missense_variant R634K 1901G>A LUSC-US 12 109962291 109962291 single base substitution G T 3_prime_UTR_variant LUSC-US 12 109962291 109962291 single base substitution G T downstream_gene_variant LUSC-US 12 109962291 109962291 single base substitution G T exon_variant LUSC-US 12 109962291 109962291 single base substitution G T stop_gained E851* 2551G>T LUSC-US 12 109971309 109971309 single base substitution C T 3_prime_UTR_variant LUSC-US 12 109971309 109971309 single base substitution C T exon_variant LUSC-US 12 109971309 109971309 single base substitution C T synonymous_variant F74F 222C>T LUSC-US 12 109971309 109971309 single base substitution C T synonymous_variant F987F 2961C>T LUSC-US 12 109971309 109971309 single base substitution C T synonymous_variant F98F 294C>T MALY-DE 12 109913132 109913132 single base substitution A T upstream_gene_variant MALY-DE 12 109920540 109920540 single base substitution A G intron_variant MALY-DE 12 109928734 109928734 single base substitution C G 3_prime_UTR_variant MALY-DE 12 109928734 109928734 single base substitution C G downstream_gene_variant MALY-DE 12 109928734 109928734 single base substitution C G intron_variant MALY-DE 12 109937885 109937885 single base substitution G T intron_variant MALY-DE 12 109937885 109937885 single base substitution G T upstream_gene_variant MALY-DE 12 109947846 109947846 single base substitution T G intron_variant MALY-DE 12 109949857 109949857 single base substitution G A downstream_gene_variant MALY-DE 12 109949857 109949857 single base substitution G A intron_variant MALY-DE 12 109962792 109962792 single base substitution C T downstream_gene_variant MALY-DE 12 109962792 109962792 single base substitution C T intron_variant MALY-DE 12 109962792 109962792 single base substitution C T upstream_gene_variant MALY-DE 12 109972380 109972380 single base substitution C T downstream_gene_variant MALY-DE 12 109972380 109972380 single base substitution C T exon_variant MALY-DE 12 109972380 109972380 single base substitution C T intron_variant MELA-AU 12 109910690 109910690 single base substitution G A upstream_gene_variant MELA-AU 12 109910803 109910803 single base substitution G A upstream_gene_variant MELA-AU 12 109910860 109910860 single base substitution G A upstream_gene_variant MELA-AU 12 109911113 109911113 single base substitution G A upstream_gene_variant MELA-AU 12 109911722 109911722 single base substitution G A upstream_gene_variant MELA-AU 12 109911855 109911855 single base substitution G A upstream_gene_variant MELA-AU 12 109911972 109911972 single base substitution G A upstream_gene_variant MELA-AU 12 109912061 109912061 single base substitution T A upstream_gene_variant MELA-AU 12 109912160 109912160 single base substitution A C upstream_gene_variant MELA-AU 12 109912341 109912341 single base substitution G A upstream_gene_variant MELA-AU 12 109912377 109912377 single base substitution A G upstream_gene_variant MELA-AU 12 109912733 109912733 single base substitution G A upstream_gene_variant MELA-AU 12 109912752 109912752 single base substitution G A upstream_gene_variant MELA-AU 12 109915163 109915163 single base substitution G A upstream_gene_variant MELA-AU 12 109915171 109915171 single base substitution C T upstream_gene_variant MELA-AU 12 109915191 109915191 single base substitution C T upstream_gene_variant MELA-AU 12 109915192 109915192 single base substitution C T upstream_gene_variant MELA-AU 12 109915223 109915223 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 109915223 109915223 single base substitution C T upstream_gene_variant MELA-AU 12 109915308 109915308 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109915308 109915308 single base substitution C T upstream_gene_variant MELA-AU 12 109915361 109915362 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 12 109915361 109915362 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 109915419 109915419 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109915419 109915419 single base substitution C T upstream_gene_variant MELA-AU 12 109915447 109915447 single base substitution C T 5_prime_UTR_variant MELA-AU 12 109915447 109915447 single base substitution C T exon_variant MELA-AU 12 109915447 109915447 single base substitution C T upstream_gene_variant MELA-AU 12 109915947 109915947 single base substitution C T intron_variant MELA-AU 12 109916070 109916070 single base substitution C T intron_variant MELA-AU 12 109916603 109916603 single base substitution C T intron_variant MELA-AU 12 109917036 109917036 single base substitution C T intron_variant MELA-AU 12 109917684 109917684 single base substitution G A intron_variant MELA-AU 12 109917803 109917803 single base substitution C T intron_variant MELA-AU 12 109918485 109918485 single base substitution C T intron_variant MELA-AU 12 109919198 109919198 single base substitution C T intron_variant MELA-AU 12 109920122 109920122 single base substitution C T intron_variant MELA-AU 12 109920892 109920892 single base substitution C T intron_variant MELA-AU 12 109921094 109921094 single base substitution C T intron_variant MELA-AU 12 109921364 109921364 single base substitution C T exon_variant MELA-AU 12 109921364 109921364 single base substitution C T missense_variant T3I 8C>T MELA-AU 12 109921922 109921922 single base substitution T C downstream_gene_variant MELA-AU 12 109921922 109921922 single base substitution T C intron_variant MELA-AU 12 109922162 109922162 single base substitution G A downstream_gene_variant MELA-AU 12 109922162 109922162 single base substitution G A intron_variant MELA-AU 12 109922557 109922557 single base substitution C T downstream_gene_variant MELA-AU 12 109922557 109922557 single base substitution C T intron_variant MELA-AU 12 109922751 109922751 single base substitution A G downstream_gene_variant MELA-AU 12 109922751 109922751 single base substitution A G intron_variant MELA-AU 12 109922832 109922832 single base substitution G A downstream_gene_variant MELA-AU 12 109922832 109922832 single base substitution G A intron_variant MELA-AU 12 109924042 109924042 single base substitution C T downstream_gene_variant MELA-AU 12 109924042 109924042 single base substitution C T intron_variant MELA-AU 12 109924547 109924547 single base substitution C T downstream_gene_variant MELA-AU 12 109924547 109924547 single base substitution C T intron_variant MELA-AU 12 109924805 109924806 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 109924805 109924806 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109924849 109924849 single base substitution C T downstream_gene_variant MELA-AU 12 109924849 109924849 single base substitution C T intron_variant MELA-AU 12 109924974 109924974 single base substitution C T downstream_gene_variant MELA-AU 12 109924974 109924974 single base substitution C T intron_variant MELA-AU 12 109925355 109925355 single base substitution G T downstream_gene_variant MELA-AU 12 109925355 109925355 single base substitution G T intron_variant MELA-AU 12 109925407 109925407 single base substitution C T downstream_gene_variant MELA-AU 12 109925407 109925407 single base substitution C T intron_variant MELA-AU 12 109925611 109925611 single base substitution C T downstream_gene_variant MELA-AU 12 109925611 109925611 single base substitution C T intron_variant MELA-AU 12 109925636 109925636 single base substitution C T downstream_gene_variant MELA-AU 12 109925636 109925636 single base substitution C T intron_variant MELA-AU 12 109926385 109926385 single base substitution C T downstream_gene_variant MELA-AU 12 109926385 109926385 single base substitution C T exon_variant MELA-AU 12 109926385 109926385 single base substitution C T synonymous_variant I152I 456C>T MELA-AU 12 109927714 109927714 single base substitution C T intron_variant MELA-AU 12 109927878 109927878 single base substitution T C intron_variant MELA-AU 12 109927878 109927878 single base substitution T C synonymous_variant I233I 699T>C MELA-AU 12 109928998 109928998 single base substitution T A 3_prime_UTR_variant MELA-AU 12 109928998 109928998 single base substitution T A downstream_gene_variant MELA-AU 12 109928998 109928998 single base substitution T A intron_variant MELA-AU 12 109929638 109929638 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109929638 109929638 single base substitution C T downstream_gene_variant MELA-AU 12 109929638 109929638 single base substitution C T intron_variant MELA-AU 12 109929769 109929769 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109929769 109929769 single base substitution C T downstream_gene_variant MELA-AU 12 109929769 109929769 single base substitution C T intron_variant MELA-AU 12 109930051 109930051 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109930051 109930051 single base substitution C T downstream_gene_variant MELA-AU 12 109930051 109930051 single base substitution C T intron_variant MELA-AU 12 109930519 109930519 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109930519 109930519 single base substitution G A downstream_gene_variant MELA-AU 12 109930519 109930519 single base substitution G A intron_variant MELA-AU 12 109931754 109931754 single base substitution C T downstream_gene_variant MELA-AU 12 109931754 109931754 single base substitution C T intron_variant MELA-AU 12 109932468 109932468 single base substitution C T downstream_gene_variant MELA-AU 12 109932468 109932468 single base substitution C T intron_variant MELA-AU 12 109932576 109932576 single base substitution C T downstream_gene_variant MELA-AU 12 109932576 109932576 single base substitution C T intron_variant MELA-AU 12 109932630 109932630 single base substitution A G downstream_gene_variant MELA-AU 12 109932630 109932630 single base substitution A G intron_variant MELA-AU 12 109933263 109933263 single base substitution C T downstream_gene_variant MELA-AU 12 109933263 109933263 single base substitution C T intron_variant MELA-AU 12 109933414 109933414 single base substitution C T downstream_gene_variant MELA-AU 12 109933414 109933414 single base substitution C T intron_variant MELA-AU 12 109933573 109933573 single base substitution C T downstream_gene_variant MELA-AU 12 109933573 109933573 single base substitution C T intron_variant MELA-AU 12 109934028 109934028 single base substitution C T downstream_gene_variant MELA-AU 12 109934028 109934028 single base substitution C T intron_variant MELA-AU 12 109934238 109934238 single base substitution C T downstream_gene_variant MELA-AU 12 109934238 109934238 single base substitution C T intron_variant MELA-AU 12 109934238 109934238 single base substitution C T upstream_gene_variant MELA-AU 12 109935933 109935933 single base substitution A G intron_variant MELA-AU 12 109935933 109935933 single base substitution A G upstream_gene_variant MELA-AU 12 109936915 109936915 single base substitution C T intron_variant MELA-AU 12 109936915 109936915 single base substitution C T upstream_gene_variant MELA-AU 12 109937171 109937171 single base substitution C T intron_variant MELA-AU 12 109937171 109937171 single base substitution C T upstream_gene_variant MELA-AU 12 109937499 109937499 single base substitution C T exon_variant MELA-AU 12 109937499 109937499 single base substitution C T synonymous_variant F334F 1002C>T MELA-AU 12 109937499 109937499 single base substitution C T upstream_gene_variant MELA-AU 12 109937535 109937535 single base substitution G A exon_variant MELA-AU 12 109937535 109937535 single base substitution G A synonymous_variant R346R 1038G>A MELA-AU 12 109937535 109937535 single base substitution G A upstream_gene_variant MELA-AU 12 109937603 109937603 single base substitution C T exon_variant MELA-AU 12 109937603 109937603 single base substitution C T missense_variant S369F 1106C>T MELA-AU 12 109937603 109937603 single base substitution C T upstream_gene_variant MELA-AU 12 109937645 109937645 single base substitution C T intron_variant MELA-AU 12 109937645 109937645 single base substitution C T upstream_gene_variant MELA-AU 12 109937673 109937673 single base substitution C T intron_variant MELA-AU 12 109937673 109937673 single base substitution C T upstream_gene_variant MELA-AU 12 109937674 109937674 single base substitution C T intron_variant MELA-AU 12 109937674 109937674 single base substitution C T upstream_gene_variant MELA-AU 12 109938066 109938066 single base substitution G A intron_variant MELA-AU 12 109938066 109938066 single base substitution G A upstream_gene_variant MELA-AU 12 109938838 109938838 single base substitution C T intron_variant MELA-AU 12 109938838 109938838 single base substitution C T upstream_gene_variant MELA-AU 12 109938995 109938995 single base substitution G A intron_variant MELA-AU 12 109938995 109938995 single base substitution G A upstream_gene_variant MELA-AU 12 109939638 109939638 single base substitution T A intron_variant MELA-AU 12 109939713 109939713 single base substitution C T intron_variant MELA-AU 12 109940301 109940301 single base substitution T C intron_variant MELA-AU 12 109940445 109940445 single base substitution C T intron_variant MELA-AU 12 109940763 109940763 single base substitution T C intron_variant MELA-AU 12 109940841 109940841 single base substitution T G exon_variant MELA-AU 12 109940841 109940841 single base substitution T G synonymous_variant R432R 1296T>G MELA-AU 12 109940914 109940914 single base substitution G A exon_variant MELA-AU 12 109940914 109940914 single base substitution G A missense_variant V457I 1369G>A MELA-AU 12 109941243 109941243 single base substitution T C intron_variant MELA-AU 12 109941811 109941811 single base substitution C T intron_variant MELA-AU 12 109941811 109941811 single base substitution C T upstream_gene_variant MELA-AU 12 109943148 109943148 single base substitution C T intron_variant MELA-AU 12 109943148 109943148 single base substitution C T upstream_gene_variant MELA-AU 12 109943892 109943892 single base substitution C T intron_variant MELA-AU 12 109943892 109943892 single base substitution C T upstream_gene_variant MELA-AU 12 109944087 109944087 single base substitution C T intron_variant MELA-AU 12 109944087 109944087 single base substitution C T upstream_gene_variant MELA-AU 12 109945379 109945380 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 12 109945379 109945380 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant YL487YF MELA-AU 12 109945379 109945380 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 109945684 109945684 single base substitution C T intron_variant MELA-AU 12 109945684 109945684 single base substitution C T upstream_gene_variant MELA-AU 12 109945749 109945749 single base substitution C T intron_variant MELA-AU 12 109945749 109945749 single base substitution C T upstream_gene_variant MELA-AU 12 109946146 109946146 single base substitution C T intron_variant MELA-AU 12 109946146 109946146 single base substitution C T upstream_gene_variant MELA-AU 12 109946444 109946444 single base substitution C T exon_variant MELA-AU 12 109946444 109946444 single base substitution C T intron_variant MELA-AU 12 109947007 109947007 single base substitution C T exon_variant MELA-AU 12 109947007 109947007 single base substitution C T intron_variant MELA-AU 12 109947011 109947011 single base substitution C T exon_variant MELA-AU 12 109947011 109947011 single base substitution C T intron_variant MELA-AU 12 109947224 109947224 single base substitution C T exon_variant MELA-AU 12 109947224 109947224 single base substitution C T intron_variant MELA-AU 12 109947364 109947364 single base substitution C T exon_variant MELA-AU 12 109947364 109947364 single base substitution C T intron_variant MELA-AU 12 109947397 109947397 single base substitution T A exon_variant MELA-AU 12 109947397 109947397 single base substitution T A intron_variant MELA-AU 12 109947397 109947397 single base substitution T A splice_region_variant MELA-AU 12 109947439 109947439 single base substitution C T exon_variant MELA-AU 12 109947439 109947439 single base substitution C T intron_variant MELA-AU 12 109947439 109947439 single base substitution C T missense_variant S554L 1661C>T MELA-AU 12 109947476 109947476 single base substitution C T exon_variant MELA-AU 12 109947476 109947476 single base substitution C T intron_variant MELA-AU 12 109947476 109947476 single base substitution C T synonymous_variant F566F 1698C>T MELA-AU 12 109947729 109947729 single base substitution C T intron_variant MELA-AU 12 109947804 109947805 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 109948759 109948759 single base substitution C T intron_variant MELA-AU 12 109948804 109948804 single base substitution C T intron_variant MELA-AU 12 109949239 109949239 single base substitution T C downstream_gene_variant MELA-AU 12 109949239 109949239 single base substitution T C intron_variant MELA-AU 12 109949417 109949417 single base substitution T C downstream_gene_variant MELA-AU 12 109949417 109949417 single base substitution T C intron_variant MELA-AU 12 109949605 109949605 single base substitution C A downstream_gene_variant MELA-AU 12 109949605 109949605 single base substitution C A intron_variant MELA-AU 12 109951751 109951751 single base substitution C T downstream_gene_variant MELA-AU 12 109951751 109951751 single base substitution C T intron_variant MELA-AU 12 109951847 109951847 single base substitution C T downstream_gene_variant MELA-AU 12 109951847 109951847 single base substitution C T intron_variant MELA-AU 12 109951944 109951944 single base substitution C T downstream_gene_variant MELA-AU 12 109951944 109951944 single base substitution C T intron_variant MELA-AU 12 109952160 109952160 single base substitution C T downstream_gene_variant MELA-AU 12 109952160 109952160 single base substitution C T intron_variant MELA-AU 12 109952558 109952558 single base substitution C T downstream_gene_variant MELA-AU 12 109952558 109952558 single base substitution C T intron_variant MELA-AU 12 109952558 109952558 single base substitution C T upstream_gene_variant MELA-AU 12 109952877 109952877 single base substitution C T downstream_gene_variant MELA-AU 12 109952877 109952877 single base substitution C T intron_variant MELA-AU 12 109952877 109952877 single base substitution C T upstream_gene_variant MELA-AU 12 109953043 109953043 single base substitution T C downstream_gene_variant MELA-AU 12 109953043 109953043 single base substitution T C intron_variant MELA-AU 12 109953043 109953043 single base substitution T C upstream_gene_variant MELA-AU 12 109953257 109953257 single base substitution C T downstream_gene_variant MELA-AU 12 109953257 109953257 single base substitution C T intron_variant MELA-AU 12 109953257 109953257 single base substitution C T upstream_gene_variant MELA-AU 12 109953372 109953372 single base substitution C T downstream_gene_variant MELA-AU 12 109953372 109953372 single base substitution C T intron_variant MELA-AU 12 109953372 109953372 single base substitution C T upstream_gene_variant MELA-AU 12 109953418 109953418 single base substitution C T downstream_gene_variant MELA-AU 12 109953418 109953418 single base substitution C T intron_variant MELA-AU 12 109953418 109953418 single base substitution C T upstream_gene_variant MELA-AU 12 109953863 109953863 single base substitution C T downstream_gene_variant MELA-AU 12 109953863 109953863 single base substitution C T intron_variant MELA-AU 12 109953863 109953863 single base substitution C T upstream_gene_variant MELA-AU 12 109954280 109954281 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 109954280 109954281 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 109954296 109954296 single base substitution C T intron_variant MELA-AU 12 109954296 109954296 single base substitution C T upstream_gene_variant MELA-AU 12 109954348 109954348 single base substitution G A intron_variant MELA-AU 12 109954348 109954348 single base substitution G A upstream_gene_variant MELA-AU 12 109954402 109954403 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109954402 109954403 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 109954523 109954523 single base substitution G C intron_variant MELA-AU 12 109954523 109954523 single base substitution G C upstream_gene_variant MELA-AU 12 109955535 109955535 single base substitution C T intron_variant MELA-AU 12 109955535 109955535 single base substitution C T upstream_gene_variant MELA-AU 12 109956489 109956489 single base substitution C T downstream_gene_variant MELA-AU 12 109956489 109956489 single base substitution C T intron_variant MELA-AU 12 109956489 109956489 single base substitution C T upstream_gene_variant MELA-AU 12 109957040 109957040 single base substitution G A downstream_gene_variant MELA-AU 12 109957040 109957040 single base substitution G A intron_variant MELA-AU 12 109957040 109957040 single base substitution G A upstream_gene_variant MELA-AU 12 109957617 109957617 single base substitution C T downstream_gene_variant MELA-AU 12 109957617 109957617 single base substitution C T exon_variant MELA-AU 12 109957617 109957617 single base substitution C T intron_variant MELA-AU 12 109958523 109958523 single base substitution C T downstream_gene_variant MELA-AU 12 109958523 109958523 single base substitution C T exon_variant MELA-AU 12 109958523 109958523 single base substitution C T intron_variant MELA-AU 12 109959982 109959982 single base substitution G A downstream_gene_variant MELA-AU 12 109959982 109959982 single base substitution G A intron_variant MELA-AU 12 109960155 109960155 single base substitution C A downstream_gene_variant MELA-AU 12 109960155 109960155 single base substitution C A intron_variant MELA-AU 12 109960264 109960264 single base substitution C T downstream_gene_variant MELA-AU 12 109960264 109960264 single base substitution C T intron_variant MELA-AU 12 109960552 109960552 single base substitution C T downstream_gene_variant MELA-AU 12 109960552 109960552 single base substitution C T intron_variant MELA-AU 12 109960664 109960664 single base substitution T C downstream_gene_variant MELA-AU 12 109960664 109960664 single base substitution T C intron_variant MELA-AU 12 109960797 109960797 single base substitution C T intron_variant MELA-AU 12 109961123 109961123 single base substitution A G intron_variant MELA-AU 12 109961211 109961211 single base substitution C T intron_variant MELA-AU 12 109961291 109961291 single base substitution C T intron_variant MELA-AU 12 109961339 109961339 single base substitution C T intron_variant MELA-AU 12 109961401 109961401 single base substitution C T intron_variant MELA-AU 12 109961950 109961950 single base substitution C T downstream_gene_variant MELA-AU 12 109961950 109961950 single base substitution C T intron_variant MELA-AU 12 109962078 109962078 single base substitution C T downstream_gene_variant MELA-AU 12 109962078 109962078 single base substitution C T intron_variant MELA-AU 12 109962334 109962334 single base substitution C T downstream_gene_variant MELA-AU 12 109962334 109962334 single base substitution C T intron_variant MELA-AU 12 109962340 109962340 single base substitution C T downstream_gene_variant MELA-AU 12 109962340 109962340 single base substitution C T intron_variant MELA-AU 12 109962411 109962411 single base substitution C T downstream_gene_variant MELA-AU 12 109962411 109962411 single base substitution C T intron_variant MELA-AU 12 109962560 109962560 single base substitution C T downstream_gene_variant MELA-AU 12 109962560 109962560 single base substitution C T intron_variant MELA-AU 12 109962760 109962761 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 109962760 109962761 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109962760 109962761 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 109962839 109962840 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 109962839 109962840 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109962839 109962840 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 109962941 109962941 single base substitution C T downstream_gene_variant MELA-AU 12 109962941 109962941 single base substitution C T intron_variant MELA-AU 12 109962941 109962941 single base substitution C T upstream_gene_variant MELA-AU 12 109963034 109963035 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 109963034 109963035 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 109963034 109963035 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 109963223 109963223 single base substitution C T downstream_gene_variant MELA-AU 12 109963223 109963223 single base substitution C T intron_variant MELA-AU 12 109963223 109963223 single base substitution C T upstream_gene_variant MELA-AU 12 109965021 109965021 single base substitution A G downstream_gene_variant MELA-AU 12 109965021 109965021 single base substitution A G intron_variant MELA-AU 12 109965021 109965021 single base substitution A G upstream_gene_variant MELA-AU 12 109965718 109965718 single base substitution C T downstream_gene_variant MELA-AU 12 109965718 109965718 single base substitution C T intron_variant MELA-AU 12 109965718 109965718 single base substitution C T upstream_gene_variant MELA-AU 12 109965970 109965970 single base substitution C T downstream_gene_variant MELA-AU 12 109965970 109965970 single base substitution C T intron_variant MELA-AU 12 109965970 109965970 single base substitution C T upstream_gene_variant MELA-AU 12 109966012 109966013 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 109966012 109966013 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109966012 109966013 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 109966043 109966043 single base substitution T C downstream_gene_variant MELA-AU 12 109966043 109966043 single base substitution T C intron_variant MELA-AU 12 109966043 109966043 single base substitution T C upstream_gene_variant MELA-AU 12 109966104 109966104 single base substitution C T downstream_gene_variant MELA-AU 12 109966104 109966104 single base substitution C T intron_variant MELA-AU 12 109966104 109966104 single base substitution C T upstream_gene_variant MELA-AU 12 109966350 109966350 single base substitution T A downstream_gene_variant MELA-AU 12 109966350 109966350 single base substitution T A intron_variant MELA-AU 12 109966350 109966350 single base substitution T A upstream_gene_variant MELA-AU 12 109967085 109967085 single base substitution C T downstream_gene_variant MELA-AU 12 109967085 109967085 single base substitution C T intron_variant MELA-AU 12 109967085 109967085 single base substitution C T upstream_gene_variant MELA-AU 12 109967909 109967909 single base substitution C T downstream_gene_variant MELA-AU 12 109967909 109967909 single base substitution C T intron_variant MELA-AU 12 109968510 109968510 single base substitution C T downstream_gene_variant MELA-AU 12 109968510 109968510 single base substitution C T intron_variant MELA-AU 12 109968905 109968905 single base substitution C T downstream_gene_variant MELA-AU 12 109968905 109968905 single base substitution C T intron_variant MELA-AU 12 109969264 109969264 single base substitution G A intron_variant MELA-AU 12 109969462 109969462 single base substitution C G intron_variant MELA-AU 12 109969541 109969541 single base substitution C T intron_variant MELA-AU 12 109969773 109969773 single base substitution C A intron_variant MELA-AU 12 109969923 109969923 single base substitution C T intron_variant MELA-AU 12 109970259 109970260 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 109970563 109970563 single base substitution C T intron_variant MELA-AU 12 109971337 109971337 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109971337 109971337 single base substitution C T exon_variant MELA-AU 12 109971337 109971337 single base substitution C T missense_variant R108C 322C>T MELA-AU 12 109971337 109971337 single base substitution C T missense_variant R84C 250C>T MELA-AU 12 109971337 109971337 single base substitution C T missense_variant R997C 2989C>T MELA-AU 12 109971379 109971379 single base substitution G A intron_variant MELA-AU 12 109971594 109971594 single base substitution C T intron_variant MELA-AU 12 109971594 109971594 single base substitution C T missense_variant P137S 409C>T MELA-AU 12 109971594 109971594 single base substitution C T missense_variant P161S 481C>T MELA-AU 12 109971604 109971604 single base substitution G T intron_variant MELA-AU 12 109971604 109971604 single base substitution G T missense_variant R140M 419G>T MELA-AU 12 109971604 109971604 single base substitution G T missense_variant R164M 491G>T MELA-AU 12 109971644 109971644 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109971644 109971644 single base substitution G A intron_variant MELA-AU 12 109971665 109971665 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109971665 109971665 single base substitution C T intron_variant MELA-AU 12 109972349 109972349 single base substitution C T downstream_gene_variant MELA-AU 12 109972349 109972349 single base substitution C T exon_variant MELA-AU 12 109972349 109972349 single base substitution C T intron_variant MELA-AU 12 109972903 109972903 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109972903 109972903 single base substitution C T downstream_gene_variant MELA-AU 12 109972951 109972951 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109972951 109972951 single base substitution G A downstream_gene_variant MELA-AU 12 109973355 109973355 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109973355 109973355 single base substitution C T downstream_gene_variant MELA-AU 12 109973382 109973382 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109973382 109973382 single base substitution C T downstream_gene_variant MELA-AU 12 109973400 109973400 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109973400 109973400 single base substitution C T downstream_gene_variant MELA-AU 12 109973484 109973484 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109973484 109973484 single base substitution C T downstream_gene_variant MELA-AU 12 109973485 109973485 single base substitution C T 3_prime_UTR_variant MELA-AU 12 109973485 109973485 single base substitution C T downstream_gene_variant MELA-AU 12 109974593 109974593 single base substitution C T downstream_gene_variant MELA-AU 12 109975054 109975054 single base substitution C T downstream_gene_variant MELA-AU 12 109975619 109975619 single base substitution C T downstream_gene_variant MELA-AU 12 109975709 109975709 single base substitution C T downstream_gene_variant MELA-AU 12 109975741 109975741 single base substitution C T downstream_gene_variant MELA-AU 12 109976279 109976279 single base substitution C T downstream_gene_variant MELA-AU 12 109976385 109976385 single base substitution C T downstream_gene_variant MELA-AU 12 109976484 109976484 single base substitution C T downstream_gene_variant MELA-AU 12 109976707 109976707 single base substitution C A downstream_gene_variant MELA-AU 12 109976709 109976709 single base substitution C T downstream_gene_variant MELA-AU 12 109977356 109977356 single base substitution G A downstream_gene_variant MELA-AU 12 109978104 109978104 single base substitution C T downstream_gene_variant MELA-AU 12 109978265 109978265 single base substitution C T downstream_gene_variant MELA-AU 12 109978885 109978885 single base substitution C T downstream_gene_variant MELA-AU 12 109979055 109979055 single base substitution G A downstream_gene_variant MELA-AU 12 109979417 109979417 single base substitution C T downstream_gene_variant ORCA-IN 12 109947453 109947453 single base substitution G C exon_variant ORCA-IN 12 109947453 109947453 single base substitution G C intron_variant ORCA-IN 12 109947453 109947453 single base substitution G C missense_variant E559Q 1675G>C ORCA-IN 12 109975447 109975447 single base substitution C T downstream_gene_variant OV-AU 12 109916567 109916567 single base substitution C G intron_variant OV-AU 12 109917903 109917903 single base substitution A G intron_variant OV-AU 12 109918865 109918865 single base substitution G A intron_variant OV-AU 12 109927065 109927065 single base substitution T G intron_variant OV-AU 12 109937120 109937120 single base substitution A C intron_variant OV-AU 12 109937120 109937120 single base substitution A C upstream_gene_variant OV-AU 12 109938058 109938058 single base substitution G A intron_variant OV-AU 12 109938058 109938058 single base substitution G A upstream_gene_variant OV-AU 12 109944137 109944137 single base substitution A G intron_variant OV-AU 12 109944137 109944137 single base substitution A G upstream_gene_variant OV-AU 12 109944745 109944745 single base substitution A T intron_variant OV-AU 12 109944745 109944745 single base substitution A T upstream_gene_variant OV-AU 12 109946362 109946362 single base substitution G A exon_variant OV-AU 12 109946362 109946362 single base substitution G A intron_variant OV-AU 12 109952904 109952904 single base substitution G T downstream_gene_variant OV-AU 12 109952904 109952904 single base substitution G T intron_variant OV-AU 12 109952904 109952904 single base substitution G T upstream_gene_variant OV-AU 12 109959766 109959766 single base substitution G A downstream_gene_variant OV-AU 12 109959766 109959766 single base substitution G A intron_variant OV-AU 12 109973116 109973116 single base substitution A T 3_prime_UTR_variant OV-AU 12 109973116 109973116 single base substitution A T downstream_gene_variant OV-AU 12 109974127 109974127 single base substitution G A 3_prime_UTR_variant OV-AU 12 109974127 109974127 single base substitution G A downstream_gene_variant PACA-AU 12 109918524 109918527 deletion of <=200bp TGTG - intron_variant PACA-AU 12 109923129 109923129 single base substitution G A downstream_gene_variant PACA-AU 12 109923129 109923129 single base substitution G A intron_variant PACA-AU 12 109933786 109933786 single base substitution G A downstream_gene_variant PACA-AU 12 109933786 109933786 single base substitution G A intron_variant PACA-AU 12 109936624 109936624 single base substitution A T intron_variant PACA-AU 12 109936624 109936624 single base substitution A T upstream_gene_variant PACA-AU 12 109940747 109940747 single base substitution C T intron_variant PACA-AU 12 109940949 109940949 single base substitution G C exon_variant PACA-AU 12 109940949 109940949 single base substitution G C missense_variant Q468H 1404G>C PACA-AU 12 109954276 109954276 single base substitution C A intron_variant PACA-AU 12 109954276 109954276 single base substitution C A upstream_gene_variant PACA-AU 12 109956819 109956819 insertion of <=200bp - G downstream_gene_variant PACA-AU 12 109956819 109956819 insertion of <=200bp - G intron_variant PACA-AU 12 109956819 109956819 insertion of <=200bp - G upstream_gene_variant PACA-AU 12 109969665 109969665 single base substitution C T intron_variant PACA-CA 12 109917563 109917563 single base substitution T A intron_variant PACA-CA 12 109917808 109917808 single base substitution G A intron_variant PACA-CA 12 109918807 109918807 single base substitution C T intron_variant PACA-CA 12 109919705 109919705 single base substitution T C intron_variant PACA-CA 12 109919842 109919842 deletion of <=200bp T - intron_variant PACA-CA 12 109922162 109922162 single base substitution G A downstream_gene_variant PACA-CA 12 109922162 109922162 single base substitution G A intron_variant PACA-CA 12 109922518 109922518 single base substitution A T downstream_gene_variant PACA-CA 12 109922518 109922518 single base substitution A T intron_variant PACA-CA 12 109925773 109925773 single base substitution T C downstream_gene_variant PACA-CA 12 109925773 109925773 single base substitution T C intron_variant PACA-CA 12 109927240 109927240 single base substitution G C intron_variant PACA-CA 12 109933433 109933433 single base substitution G A downstream_gene_variant PACA-CA 12 109933433 109933433 single base substitution G A intron_variant PACA-CA 12 109938258 109938258 single base substitution G C intron_variant PACA-CA 12 109938258 109938258 single base substitution G C upstream_gene_variant PACA-CA 12 109938267 109938267 single base substitution A T intron_variant PACA-CA 12 109938267 109938267 single base substitution A T upstream_gene_variant PACA-CA 12 109948537 109948537 single base substitution C A intron_variant PACA-CA 12 109951015 109951015 single base substitution C T downstream_gene_variant PACA-CA 12 109951015 109951015 single base substitution C T intron_variant PACA-CA 12 109952875 109952875 single base substitution C T downstream_gene_variant PACA-CA 12 109952875 109952875 single base substitution C T intron_variant PACA-CA 12 109952875 109952875 single base substitution C T upstream_gene_variant PACA-CA 12 109959150 109959150 single base substitution C T downstream_gene_variant PACA-CA 12 109959150 109959150 single base substitution C T intron_variant PACA-CA 12 109967527 109967527 single base substitution A G downstream_gene_variant PACA-CA 12 109967527 109967527 single base substitution A G intron_variant PACA-CA 12 109967527 109967527 single base substitution A G upstream_gene_variant PACA-CA 12 109973245 109973245 single base substitution G A 3_prime_UTR_variant PACA-CA 12 109973245 109973245 single base substitution G A downstream_gene_variant PACA-CA 12 109974824 109974824 deletion of <=200bp T - downstream_gene_variant PACA-CA 12 109977046 109977046 insertion of <=200bp - A downstream_gene_variant PACA-CA 12 109978806 109978806 single base substitution C T downstream_gene_variant PAEN-AU 12 109940544 109940544 single base substitution A G intron_variant PAEN-AU 12 109948003 109948003 single base substitution G A intron_variant PAEN-AU 12 109967644 109967644 single base substitution C A downstream_gene_variant PAEN-AU 12 109967644 109967644 single base substitution C A intron_variant PAEN-AU 12 109967644 109967644 single base substitution C A upstream_gene_variant PAEN-IT 12 109921939 109921939 single base substitution G A downstream_gene_variant PAEN-IT 12 109921939 109921939 single base substitution G A intron_variant PAEN-IT 12 109930345 109930345 single base substitution C G 3_prime_UTR_variant PAEN-IT 12 109930345 109930345 single base substitution C G downstream_gene_variant PAEN-IT 12 109930345 109930345 single base substitution C G intron_variant PAEN-IT 12 109950171 109950171 single base substitution G T downstream_gene_variant PAEN-IT 12 109950171 109950171 single base substitution G T intron_variant PBCA-DE 12 109923845 109923845 single base substitution T G downstream_gene_variant PBCA-DE 12 109923845 109923845 single base substitution T G exon_variant PBCA-DE 12 109923845 109923845 single base substitution T G missense_variant L104R 311T>G PBCA-DE 12 109932466 109932466 single base substitution T C downstream_gene_variant PBCA-DE 12 109932466 109932466 single base substitution T C intron_variant PBCA-DE 12 109932917 109932917 single base substitution G T downstream_gene_variant PBCA-DE 12 109932917 109932917 single base substitution G T intron_variant PBCA-DE 12 109959494 109959494 single base substitution G C downstream_gene_variant PBCA-DE 12 109959494 109959494 single base substitution G C intron_variant PBCA-DE 12 109961010 109961010 single base substitution T C intron_variant PRAD-CA 12 109912332 109912332 single base substitution C T upstream_gene_variant PRAD-CA 12 109915070 109915070 single base substitution A G upstream_gene_variant PRAD-CA 12 109918867 109918867 single base substitution G A intron_variant PRAD-CA 12 109920071 109920071 single base substitution G T intron_variant PRAD-CA 12 109922472 109922472 single base substitution G C downstream_gene_variant PRAD-CA 12 109922472 109922472 single base substitution G C intron_variant PRAD-CA 12 109925489 109925489 single base substitution A G downstream_gene_variant PRAD-CA 12 109925489 109925489 single base substitution A G intron_variant PRAD-CA 12 109937907 109937907 single base substitution C T intron_variant PRAD-CA 12 109937907 109937907 single base substitution C T upstream_gene_variant PRAD-CA 12 109938857 109938857 single base substitution A G intron_variant PRAD-CA 12 109938857 109938857 single base substitution A G upstream_gene_variant PRAD-CA 12 109939641 109939641 single base substitution T A intron_variant PRAD-CA 12 109949448 109949448 single base substitution A G downstream_gene_variant PRAD-CA 12 109949448 109949448 single base substitution A G intron_variant PRAD-CA 12 109950144 109950144 single base substitution A G downstream_gene_variant PRAD-CA 12 109950144 109950144 single base substitution A G intron_variant PRAD-CA 12 109960962 109960962 single base substitution T C intron_variant PRAD-CA 12 109962472 109962472 single base substitution G C downstream_gene_variant PRAD-CA 12 109962472 109962472 single base substitution G C intron_variant PRAD-CA 12 109962795 109962795 single base substitution G C downstream_gene_variant PRAD-CA 12 109962795 109962795 single base substitution G C intron_variant PRAD-CA 12 109962795 109962795 single base substitution G C upstream_gene_variant PRAD-CA 12 109968913 109968913 single base substitution G A downstream_gene_variant PRAD-CA 12 109968913 109968913 single base substitution G A intron_variant PRAD-CA 12 109974931 109974931 single base substitution T C downstream_gene_variant PRAD-CA 12 109977464 109977464 single base substitution T G downstream_gene_variant PRAD-CA 12 109979247 109979247 single base substitution T C downstream_gene_variant PRAD-UK 12 109928071 109928071 single base substitution T G 3_prime_UTR_variant PRAD-UK 12 109928071 109928071 single base substitution T G intron_variant PRAD-UK 12 109935522 109935522 single base substitution G A downstream_gene_variant PRAD-UK 12 109935522 109935522 single base substitution G A intron_variant PRAD-UK 12 109935522 109935522 single base substitution G A upstream_gene_variant PRAD-UK 12 109952844 109952844 single base substitution G A downstream_gene_variant PRAD-UK 12 109952844 109952844 single base substitution G A intron_variant PRAD-UK 12 109952844 109952844 single base substitution G A upstream_gene_variant PRAD-UK 12 109953756 109953756 single base substitution G T downstream_gene_variant PRAD-UK 12 109953756 109953756 single base substitution G T intron_variant PRAD-UK 12 109953756 109953756 single base substitution G T upstream_gene_variant PRAD-UK 12 109953757 109953757 single base substitution A T downstream_gene_variant PRAD-UK 12 109953757 109953757 single base substitution A T intron_variant PRAD-UK 12 109953757 109953757 single base substitution A T upstream_gene_variant PRAD-UK 12 109972003 109972003 single base substitution G C 3_prime_UTR_variant PRAD-UK 12 109972003 109972003 single base substitution G C exon_variant PRAD-UK 12 109972003 109972003 single base substitution G C intron_variant PRAD-UK 12 109972007 109972007 single base substitution A G 3_prime_UTR_variant PRAD-UK 12 109972007 109972007 single base substitution A G exon_variant PRAD-UK 12 109972007 109972007 single base substitution A G intron_variant READ-US 12 109921716 109921716 single base substitution G T exon_variant READ-US 12 109921716 109921716 single base substitution G T missense_variant R71I 212G>T READ-US 12 109947484 109947484 single base substitution C A exon_variant READ-US 12 109947484 109947484 single base substitution C A intron_variant READ-US 12 109947484 109947484 single base substitution C A missense_variant S569Y 1706C>A READ-US 12 109949037 109949037 single base substitution G T exon_variant READ-US 12 109949037 109949037 single base substitution G T stop_gained E629* 1885G>T READ-US 12 109972419 109972419 single base substitution C T 3_prime_UTR_variant READ-US 12 109972419 109972419 single base substitution C T downstream_gene_variant READ-US 12 109972419 109972419 single base substitution C T exon_variant READ-US 12 109972419 109972419 single base substitution C T synonymous_variant S1013S 3039C>T RECA-CN 12 109923824 109923824 single base substitution A C downstream_gene_variant RECA-CN 12 109923824 109923824 single base substitution A C exon_variant RECA-CN 12 109923824 109923824 single base substitution A C missense_variant E97A 290A>C RECA-EU 12 109911333 109911333 single base substitution G A upstream_gene_variant RECA-EU 12 109912631 109912631 single base substitution G C upstream_gene_variant RECA-EU 12 109912959 109912959 single base substitution C G upstream_gene_variant RECA-EU 12 109939329 109939329 single base substitution C T exon_variant RECA-EU 12 109939329 109939329 single base substitution C T synonymous_variant L424L 1272C>T RECA-EU 12 109951592 109951592 single base substitution C T downstream_gene_variant RECA-EU 12 109951592 109951592 single base substitution C T intron_variant RECA-EU 12 109965798 109965798 single base substitution A T downstream_gene_variant RECA-EU 12 109965798 109965798 single base substitution A T intron_variant RECA-EU 12 109965798 109965798 single base substitution A T upstream_gene_variant RECA-EU 12 109965816 109965816 single base substitution G A downstream_gene_variant RECA-EU 12 109965816 109965816 single base substitution G A intron_variant RECA-EU 12 109965816 109965816 single base substitution G A upstream_gene_variant RECA-EU 12 109970445 109970445 single base substitution A T intron_variant RECA-EU 12 109970776 109970776 single base substitution C T intron_variant RECA-EU 12 109973148 109973148 single base substitution C A 3_prime_UTR_variant RECA-EU 12 109973148 109973148 single base substitution C A downstream_gene_variant RECA-EU 12 109974562 109974562 single base substitution G T downstream_gene_variant SKCA-BR 12 109910499 109910499 single base substitution C T upstream_gene_variant SKCA-BR 12 109914577 109914577 single base substitution T C upstream_gene_variant SKCA-BR 12 109914869 109914869 single base substitution A C upstream_gene_variant SKCA-BR 12 109917994 109917994 insertion of <=200bp - GT intron_variant SKCA-BR 12 109919621 109919621 single base substitution G A intron_variant SKCA-BR 12 109923953 109923953 single base substitution A G downstream_gene_variant SKCA-BR 12 109923953 109923953 single base substitution A G intron_variant SKCA-BR 12 109924620 109924620 single base substitution C T downstream_gene_variant SKCA-BR 12 109924620 109924620 single base substitution C T intron_variant SKCA-BR 12 109924873 109924873 single base substitution C T downstream_gene_variant SKCA-BR 12 109924873 109924873 single base substitution C T intron_variant SKCA-BR 12 109928630 109928631 deletion of <=200bp GT - 3_prime_UTR_variant SKCA-BR 12 109928630 109928631 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 12 109928630 109928631 deletion of <=200bp GT - intron_variant SKCA-BR 12 109928879 109928879 single base substitution C T 3_prime_UTR_variant SKCA-BR 12 109928879 109928879 single base substitution C T downstream_gene_variant SKCA-BR 12 109928879 109928879 single base substitution C T exon_variant SKCA-BR 12 109928879 109928879 single base substitution C T synonymous_variant P220P 660C>T SKCA-BR 12 109930597 109930597 single base substitution T G downstream_gene_variant SKCA-BR 12 109930597 109930597 single base substitution T G intron_variant SKCA-BR 12 109930742 109930742 single base substitution A C downstream_gene_variant SKCA-BR 12 109930742 109930742 single base substitution A C intron_variant SKCA-BR 12 109933007 109933007 single base substitution C T downstream_gene_variant SKCA-BR 12 109933007 109933007 single base substitution C T intron_variant SKCA-BR 12 109935668 109935668 single base substitution C T exon_variant SKCA-BR 12 109935668 109935668 single base substitution C T synonymous_variant F253F 759C>T SKCA-BR 12 109935668 109935668 single base substitution C T upstream_gene_variant SKCA-BR 12 109936738 109936738 single base substitution C T intron_variant SKCA-BR 12 109936738 109936738 single base substitution C T upstream_gene_variant SKCA-BR 12 109938023 109938023 single base substitution C T intron_variant SKCA-BR 12 109938023 109938023 single base substitution C T upstream_gene_variant SKCA-BR 12 109938458 109938458 single base substitution C T intron_variant SKCA-BR 12 109938458 109938458 single base substitution C T upstream_gene_variant SKCA-BR 12 109941100 109941100 single base substitution T C intron_variant SKCA-BR 12 109953367 109953367 single base substitution T C downstream_gene_variant SKCA-BR 12 109953367 109953367 single base substitution T C intron_variant SKCA-BR 12 109953367 109953367 single base substitution T C upstream_gene_variant SKCA-BR 12 109954387 109954387 single base substitution C T intron_variant SKCA-BR 12 109954387 109954387 single base substitution C T upstream_gene_variant SKCA-BR 12 109955031 109955031 single base substitution C T intron_variant SKCA-BR 12 109955031 109955031 single base substitution C T upstream_gene_variant SKCA-BR 12 109956596 109956596 single base substitution C T downstream_gene_variant SKCA-BR 12 109956596 109956596 single base substitution C T intron_variant SKCA-BR 12 109956596 109956596 single base substitution C T upstream_gene_variant SKCA-BR 12 109957693 109957693 insertion of <=200bp - TAAGATTC downstream_gene_variant SKCA-BR 12 109957693 109957693 insertion of <=200bp - TAAGATTC exon_variant SKCA-BR 12 109957693 109957693 insertion of <=200bp - TAAGATTC intron_variant SKCA-BR 12 109960561 109960561 single base substitution C T downstream_gene_variant SKCA-BR 12 109960561 109960561 single base substitution C T intron_variant SKCA-BR 12 109962756 109962756 single base substitution C T downstream_gene_variant SKCA-BR 12 109962756 109962756 single base substitution C T intron_variant SKCA-BR 12 109962756 109962756 single base substitution C T upstream_gene_variant SKCA-BR 12 109966662 109966666 deletion of <=200bp AAAAG - downstream_gene_variant SKCA-BR 12 109966662 109966666 deletion of <=200bp AAAAG - intron_variant SKCA-BR 12 109966662 109966666 deletion of <=200bp AAAAG - upstream_gene_variant SKCA-BR 12 109966666 109966666 single base substitution G A downstream_gene_variant SKCA-BR 12 109966666 109966666 single base substitution G A intron_variant SKCA-BR 12 109966666 109966666 single base substitution G A upstream_gene_variant SKCA-BR 12 109967947 109967947 single base substitution T G downstream_gene_variant SKCA-BR 12 109967947 109967947 single base substitution T G intron_variant SKCA-BR 12 109968243 109968243 single base substitution T C downstream_gene_variant SKCA-BR 12 109968243 109968243 single base substitution T C intron_variant SKCA-BR 12 109969222 109969222 single base substitution C T intron_variant SKCA-BR 12 109969223 109969223 single base substitution T C intron_variant SKCA-BR 12 109970463 109970463 single base substitution G A intron_variant SKCA-BR 12 109970693 109970693 single base substitution C T intron_variant SKCA-BR 12 109970956 109970956 single base substitution G A intron_variant SKCA-BR 12 109975746 109975746 single base substitution T C downstream_gene_variant SKCA-BR 12 109976494 109976494 single base substitution C A downstream_gene_variant SKCA-BR 12 109976978 109976978 single base substitution T C downstream_gene_variant SKCA-BR 12 109978795 109978795 single base substitution C T downstream_gene_variant SKCA-BR 12 109979214 109979214 single base substitution C T downstream_gene_variant SKCM-US 12 109921395 109921395 single base substitution C T exon_variant SKCM-US 12 109921395 109921395 single base substitution C T synonymous_variant I13I 39C>T SKCM-US 12 109926454 109926454 single base substitution G A downstream_gene_variant SKCM-US 12 109926454 109926454 single base substitution G A exon_variant SKCM-US 12 109926454 109926454 single base substitution G A stop_gained W175* 525G>A SKCM-US 12 109926464 109926464 single base substitution C T downstream_gene_variant SKCM-US 12 109926464 109926464 single base substitution C T exon_variant SKCM-US 12 109926464 109926464 single base substitution C T missense_variant R179W 535C>T SKCM-US 12 109928861 109928861 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109928861 109928861 single base substitution C T downstream_gene_variant SKCM-US 12 109928861 109928861 single base substitution C T exon_variant SKCM-US 12 109928861 109928861 single base substitution C T synonymous_variant T214T 642C>T SKCM-US 12 109928893 109928893 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109928893 109928893 single base substitution C T downstream_gene_variant SKCM-US 12 109928893 109928893 single base substitution C T exon_variant SKCM-US 12 109928893 109928893 single base substitution C T missense_variant S225F 674C>T SKCM-US 12 109935691 109935691 single base substitution C T exon_variant SKCM-US 12 109935691 109935691 single base substitution C T missense_variant P261L 782C>T SKCM-US 12 109935691 109935691 single base substitution C T upstream_gene_variant SKCM-US 12 109936079 109936079 single base substitution C T exon_variant SKCM-US 12 109936079 109936079 single base substitution C T synonymous_variant F287F 861C>T SKCM-US 12 109936079 109936079 single base substitution C T upstream_gene_variant SKCM-US 12 109937499 109937499 single base substitution C T exon_variant SKCM-US 12 109937499 109937499 single base substitution C T synonymous_variant F334F 1002C>T SKCM-US 12 109937499 109937499 single base substitution C T upstream_gene_variant SKCM-US 12 109937506 109937506 single base substitution T A exon_variant SKCM-US 12 109937506 109937506 single base substitution T A missense_variant L337M 1009T>A SKCM-US 12 109937506 109937506 single base substitution T A upstream_gene_variant SKCM-US 12 109939175 109939175 single base substitution G A splice_acceptor_variant SKCM-US 12 109939175 109939175 single base substitution G A upstream_gene_variant SKCM-US 12 109940906 109940906 single base substitution C T exon_variant SKCM-US 12 109940906 109940906 single base substitution C T missense_variant S454F 1361C>T SKCM-US 12 109940943 109940943 single base substitution C T exon_variant SKCM-US 12 109940943 109940943 single base substitution C T synonymous_variant L466L 1398C>T SKCM-US 12 109945401 109945401 single base substitution C T exon_variant SKCM-US 12 109945401 109945401 single base substitution C T synonymous_variant L495L 1483C>T SKCM-US 12 109945401 109945401 single base substitution C T upstream_gene_variant SKCM-US 12 109947476 109947476 single base substitution C T exon_variant SKCM-US 12 109947476 109947476 single base substitution C T intron_variant SKCM-US 12 109947476 109947476 single base substitution C T synonymous_variant F566F 1698C>T SKCM-US 12 109949049 109949049 single base substitution G A exon_variant SKCM-US 12 109949049 109949049 single base substitution G A missense_variant D633N 1897G>A SKCM-US 12 109954637 109954637 single base substitution C T exon_variant SKCM-US 12 109954637 109954637 single base substitution C T missense_variant S675F 2024C>T SKCM-US 12 109954637 109954637 single base substitution C T upstream_gene_variant SKCM-US 12 109959293 109959293 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109959293 109959293 single base substitution C T downstream_gene_variant SKCM-US 12 109959293 109959293 single base substitution C T exon_variant SKCM-US 12 109959293 109959293 single base substitution C T synonymous_variant I767I 2301C>T SKCM-US 12 109962272 109962272 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109962272 109962272 single base substitution C T downstream_gene_variant SKCM-US 12 109962272 109962272 single base substitution C T exon_variant SKCM-US 12 109962272 109962272 single base substitution C T synonymous_variant G844G 2532C>T SKCM-US 12 109967761 109967761 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109967761 109967761 single base substitution C T 5_prime_UTR_variant SKCM-US 12 109967761 109967761 single base substitution C T downstream_gene_variant SKCM-US 12 109967761 109967761 single base substitution C T exon_variant SKCM-US 12 109967761 109967761 single base substitution C T synonymous_variant A898A 2694C>T SKCM-US 12 109967761 109967761 single base substitution C T synonymous_variant A9A 27C>T SKCM-US 12 109971273 109971273 single base substitution C T splice_region_variant SKCM-US 12 109971326 109971326 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109971326 109971326 single base substitution C T exon_variant SKCM-US 12 109971326 109971326 single base substitution C T missense_variant P104L 311C>T SKCM-US 12 109971326 109971326 single base substitution C T missense_variant P80L 239C>T SKCM-US 12 109971326 109971326 single base substitution C T missense_variant P993L 2978C>T STAD-US 12 109921443 109921443 single base substitution G A exon_variant STAD-US 12 109921443 109921443 single base substitution G A synonymous_variant R29R 87G>A STAD-US 12 109935661 109935661 single base substitution G A exon_variant STAD-US 12 109935661 109935661 single base substitution G A missense_variant R251Q 752G>A STAD-US 12 109935661 109935661 single base substitution G A upstream_gene_variant STAD-US 12 109935694 109935694 single base substitution C A exon_variant STAD-US 12 109935694 109935694 single base substitution C A missense_variant A262D 785C>A STAD-US 12 109935694 109935694 single base substitution C A upstream_gene_variant STAD-US 12 109936110 109936110 single base substitution C T exon_variant STAD-US 12 109936110 109936110 single base substitution C T missense_variant R298C 892C>T STAD-US 12 109936110 109936110 single base substitution C T upstream_gene_variant STAD-US 12 109936111 109936111 single base substitution G A exon_variant STAD-US 12 109936111 109936111 single base substitution G A missense_variant R298H 893G>A STAD-US 12 109936111 109936111 single base substitution G A upstream_gene_variant STAD-US 12 109940840 109940840 single base substitution G A exon_variant STAD-US 12 109940840 109940840 single base substitution G A missense_variant R432H 1295G>A STAD-US 12 109945375 109945375 single base substitution C T exon_variant STAD-US 12 109945375 109945375 single base substitution C T missense_variant T486I 1457C>T STAD-US 12 109945375 109945375 single base substitution C T upstream_gene_variant STAD-US 12 109945425 109945425 single base substitution G A exon_variant STAD-US 12 109945425 109945425 single base substitution G A missense_variant G503R 1507G>A STAD-US 12 109945425 109945425 single base substitution G A upstream_gene_variant STAD-US 12 109948193 109948193 single base substitution G A exon_variant STAD-US 12 109948193 109948193 single base substitution G A missense_variant G596R 1786G>A STAD-US 12 109959319 109959319 single base substitution A G 3_prime_UTR_variant STAD-US 12 109959319 109959319 single base substitution A G downstream_gene_variant STAD-US 12 109959319 109959319 single base substitution A G exon_variant STAD-US 12 109959319 109959319 single base substitution A G missense_variant E776G 2327A>G STAD-US 12 109959331 109959331 single base substitution A C 3_prime_UTR_variant STAD-US 12 109959331 109959331 single base substitution A C downstream_gene_variant STAD-US 12 109959331 109959331 single base substitution A C exon_variant STAD-US 12 109959331 109959331 single base substitution A C missense_variant K780T 2339A>C STAD-US 12 109962256 109962256 single base substitution A G 3_prime_UTR_variant STAD-US 12 109962256 109962256 single base substitution A G downstream_gene_variant STAD-US 12 109962256 109962256 single base substitution A G exon_variant STAD-US 12 109962256 109962256 single base substitution A G missense_variant D839G 2516A>G STAD-US 12 109967832 109967832 single base substitution G A 3_prime_UTR_variant STAD-US 12 109967832 109967832 single base substitution G A downstream_gene_variant STAD-US 12 109967832 109967832 single base substitution G A exon_variant STAD-US 12 109967832 109967832 single base substitution G A missense_variant R33H 98G>A STAD-US 12 109967832 109967832 single base substitution G A missense_variant R922H 2765G>A STAD-US 12 109967832 109967832 single base substitution G A missense_variant R9H 26G>A STAD-US 12 109972426 109972426 single base substitution C T 3_prime_UTR_variant STAD-US 12 109972426 109972426 single base substitution C T downstream_gene_variant STAD-US 12 109972426 109972426 single base substitution C T exon_variant STAD-US 12 109972426 109972426 single base substitution C T missense_variant R1016W 3046C>T STAD-US 12 109972568 109972568 single base substitution C T downstream_gene_variant STAD-US 12 109972568 109972568 single base substitution C T exon_variant STAD-US 12 109972568 109972568 single base substitution C T missense_variant T1063M 3188C>T UCEC-US 12 109921448 109921448 single base substitution G A exon_variant UCEC-US 12 109921448 109921448 single base substitution G A missense_variant R31Q 92G>A UCEC-US 12 109921498 109921498 single base substitution C T exon_variant UCEC-US 12 109921498 109921498 single base substitution C T stop_gained R48* 142C>T UCEC-US 12 109921751 109921751 single base substitution C T exon_variant UCEC-US 12 109921751 109921751 single base substitution C T synonymous_variant L83L 247C>T UCEC-US 12 109924286 109924286 single base substitution T C downstream_gene_variant UCEC-US 12 109924286 109924286 single base substitution T C exon_variant UCEC-US 12 109924286 109924286 single base substitution T C missense_variant V118A 353T>C UCEC-US 12 109924379 109924379 single base substitution A G downstream_gene_variant UCEC-US 12 109924379 109924379 single base substitution A G missense_variant K149R 446A>G UCEC-US 12 109924379 109924379 single base substitution A G splice_region_variant UCEC-US 12 109926417 109926417 single base substitution T C downstream_gene_variant UCEC-US 12 109926417 109926417 single base substitution T C exon_variant UCEC-US 12 109926417 109926417 single base substitution T C missense_variant L163P 488T>C UCEC-US 12 109926461 109926461 single base substitution C A downstream_gene_variant UCEC-US 12 109926461 109926461 single base substitution C A exon_variant UCEC-US 12 109926461 109926461 single base substitution C A missense_variant L178I 532C>A UCEC-US 12 109928915 109928915 single base substitution T G 3_prime_UTR_variant UCEC-US 12 109928915 109928915 single base substitution T G downstream_gene_variant UCEC-US 12 109928915 109928915 single base substitution T G exon_variant UCEC-US 12 109928915 109928915 single base substitution T G synonymous_variant A232A 696T>G UCEC-US 12 109928920 109928920 single base substitution C A 3_prime_UTR_variant UCEC-US 12 109928920 109928920 single base substitution C A downstream_gene_variant UCEC-US 12 109928920 109928920 single base substitution C A exon_variant UCEC-US 12 109928920 109928920 single base substitution C A missense_variant S234Y 701C>A UCEC-US 12 109936039 109936039 single base substitution G A missense_variant R274H 821G>A UCEC-US 12 109936039 109936039 single base substitution G A splice_region_variant UCEC-US 12 109936039 109936039 single base substitution G A upstream_gene_variant UCEC-US 12 109936071 109936071 single base substitution C T exon_variant UCEC-US 12 109936071 109936071 single base substitution C T missense_variant R285C 853C>T UCEC-US 12 109936071 109936071 single base substitution C T upstream_gene_variant UCEC-US 12 109939183 109939183 single base substitution G A exon_variant UCEC-US 12 109939183 109939183 single base substitution G A missense_variant E376K 1126G>A UCEC-US 12 109939183 109939183 single base substitution G A upstream_gene_variant UCEC-US 12 109939239 109939239 single base substitution C T exon_variant UCEC-US 12 109939239 109939239 single base substitution C T synonymous_variant I394I 1182C>T UCEC-US 12 109940977 109940977 single base substitution C T exon_variant UCEC-US 12 109940977 109940977 single base substitution C T missense_variant R478W 1432C>T UCEC-US 12 109945451 109945451 single base substitution C A exon_variant UCEC-US 12 109945451 109945451 single base substitution C A missense_variant F511L 1533C>A UCEC-US 12 109945451 109945451 single base substitution C A upstream_gene_variant UCEC-US 12 109945514 109945514 single base substitution C T exon_variant UCEC-US 12 109945514 109945514 single base substitution C T synonymous_variant F532F 1596C>T UCEC-US 12 109945514 109945514 single base substitution C T upstream_gene_variant UCEC-US 12 109947484 109947484 single base substitution C A exon_variant UCEC-US 12 109947484 109947484 single base substitution C A intron_variant UCEC-US 12 109947484 109947484 single base substitution C A missense_variant S569Y 1706C>A UCEC-US 12 109949051 109949051 single base substitution C A exon_variant UCEC-US 12 109949051 109949051 single base substitution C A missense_variant D633E 1899C>A UCEC-US 12 109958988 109958988 single base substitution C T 3_prime_UTR_variant UCEC-US 12 109958988 109958988 single base substitution C T downstream_gene_variant UCEC-US 12 109958988 109958988 single base substitution C T exon_variant UCEC-US 12 109958988 109958988 single base substitution C T synonymous_variant H704H 2112C>T UCEC-US 12 109959078 109959078 single base substitution C A 3_prime_UTR_variant UCEC-US 12 109959078 109959078 single base substitution C A downstream_gene_variant UCEC-US 12 109959078 109959078 single base substitution C A exon_variant UCEC-US 12 109959078 109959078 single base substitution C A missense_variant F734L 2202C>A UCEC-US 12 109961890 109961890 single base substitution C T 3_prime_UTR_variant UCEC-US 12 109961890 109961890 single base substitution C T exon_variant UCEC-US 12 109961890 109961890 single base substitution C T synonymous_variant S824S 2472C>T UCEC-US 12 109971273 109971273 single base substitution C T splice_region_variant UCEC-US 12 109972546 109972546 single base substitution C T downstream_gene_variant UCEC-US 12 109972546 109972546 single base substitution C T exon_variant UCEC-US 12 109972546 109972546 single base substitution C T missense_variant R1056C 3166C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587376 COSM1231573 c.1330C>A p.L444I Substitution - Missense 12:109503070-109503070 + LS513 COSM1946540 c.942C>A p.G314G Substitution - coding silent 12:109499634-109499634 + TCGA-EE-A2GS-06 COSM3455857 c.525G>A p.W175* Substitution - Nonsense 12:109488649-109488649 + TCGA-BP-5173-01 COSM467762 c.2707T>A p.F903I Substitution - Missense 12:109529969-109529969 + BD8T COSM1605550 c.447+5C>A p.? Unknown 12:109486580-109486580 + TCGA-AG-3583-01 COSM287905 c.357C>T p.S119S Substitution - coding silent 12:109486485-109486485 + TCGA-AM-5821-01 COSM1178430 c.838T>C p.S280P Substitution - Missense 12:109498251-109498251 + TCGA-FW-A3R5-06 COSM3870695 c.782C>T p.P261L Substitution - Missense 12:109497886-109497886 + TCGA-BR-8589-01 COSM4038566 c.2339A>C p.K780T Substitution - Missense 12:109521526-109521526 + TCGA-D7-8572-01 COSM4038569 c.3188C>T p.T1063M Substitution - Missense 12:109534763-109534763 + QC2-18-T2 COSM5652583 c.2253+2T>C p.? Unknown 12:109521326-109521326 + TCGA-BT-A2LB-01 COSM3792159 c.737C>T p.S246L Substitution - Missense 12:109497841-109497841 + TCGA-BR-8363-01 COSM4038555 c.892C>T p.R298C Substitution - Missense 12:109498305-109498305 + HT115 COSM1269639 c.564G>A p.A188A Substitution - coding silent 12:109489938-109489938 + TCGA-ER-A2NB-01 COSM3455878 c.1897G>A p.D633N Substitution - Missense 12:109511244-109511244 + 396 COSM4428776 c.1856+3G>C p.? Unknown 12:109510461-109510461 + TCGA-D9-A4Z3-01 COSM3455872 c.1361C>T p.S454F Substitution - Missense 12:109503101-109503101 + 1255_T COSM3954165 c.451G>A p.E151K Substitution - Missense 12:109488575-109488575 + RKO COSM4647516 c.2454A>G p.E818E Substitution - coding silent 12:109524067-109524067 + TCGA-D1-A103-01 COSM934831 c.1182C>T p.I394I Substitution - coding silent 12:109501434-109501434 + PD3988a COSM165371 c.1261C>G p.Q421E Substitution - Missense 12:109501513-109501513 + 19 COSM5446994 c.820C>T p.R274C Substitution - Missense 12:109498233-109498233 + LOVO COSM1946574 c.2701A>G p.S901G Substitution - Missense 12:109529963-109529963 + ESO-083 COSM1269636 c.1310C>T p.S437L Substitution - Missense 12:109503050-109503050 + CHC892T COSM4796643 c.1252G>A p.A418T Substitution - Missense 12:109501504-109501504 + TCGA-22-5477-01 COSM691317 c.1901G>A p.R634K Substitution - Missense 12:109511248-109511248 + TCGA-DA-A1HY-06 COSM3455854 c.39C>T p.I13I Substitution - coding silent 12:109483590-109483590 + PD9001a COSM1269636 c.1310C>T p.S437L Substitution - Missense 12:109503050-109503050 + TCGA-BR-6452-01 COSM4038561 c.1507G>A p.G503R Substitution - Missense 12:109507620-109507620 + TCGA-18-3416-01 COSM691316 c.2551G>T p.E851* Substitution - Nonsense 12:109524486-109524486 + PT44 COSM5926855 c.2569-6C>T p.? Unknown 12:109526352-109526352 + ESO-165 COSM1269638 c.271G>A p.E91K Substitution - Missense 12:109483970-109483970 + MO_1074 COSM5572881 c.2826C>A p.Y942* Substitution - Nonsense 12:109530562-109530562 + TCGA-B4-5844-01 COSM1492746 c.1208G>A p.S403N Substitution - Missense 12:109501460-109501460 + HCC81T COSM3703848 c.2084A>G p.Y695C Substitution - Missense 12:109521155-109521155 + OSCC-GB_01170111 COSM5954045 c.1675G>C p.E559Q Substitution - Missense 12:109509648-109509648 + YUKAT COSM5374129 c.2336G>A p.G779E Substitution - Missense 12:109521523-109521523 + CSCC-44-T COSM4491731 c.385C>A p.L129I Substitution - Missense 12:109486513-109486513 + ESCC_BICR_050T COSM5440014 c.2980T>G p.F994V Substitution - Missense 12:109533523-109533523 + CSCC-20-T COSM4465222 c.1371C>T p.V457V Substitution - coding silent 12:109503111-109503111 + TCGA-AZ-4315-01 COSM1358619 c.861C>T p.F287F Substitution - coding silent 12:109498274-109498274 + PD24308a COSM5784798 c.1909G>A p.A637T Substitution - Missense 12:109511256-109511256 + T578 COSM1946527 c.492G>A p.T164T Substitution - coding silent 12:109488616-109488616 + 6115224 COSM5553767 c.2326G>A p.E776K Substitution - Missense 12:109521513-109521513 + 587278 COSM1231571 c.1243G>A p.A415T Substitution - Missense 12:109501495-109501495 + B96-Tumor COSM1746730 c.739G>A p.D247N Substitution - Missense 12:109497843-109497843 + CHC2113T COSM4788400 c.1125C>A p.N375K Substitution - Missense 12:109501377-109501377 + TCGA-B0-4824-01 COSM3359528 c.2380G>A p.V794M Substitution - Missense 12:109523993-109523993 + CSCC-27-T COSM4485621 c.2953C>T p.L985L Substitution - coding silent 12:109533496-109533496 + Gp5D COSM1946563 c.2058C>T p.R686R Substitution - coding silent 12:109516866-109516866 + TCGA-A7-A4SA-01 COSM3810949 c.743A>G p.N248S Substitution - Missense 12:109497847-109497847 + TCGA-EE-A2GJ-06 COSM3455863 c.642C>T p.T214T Substitution - coding silent 12:109491056-109491056 + TCGA-A3-3346-01 COSM1492747 c.652G>A p.A218T Substitution - Missense 12:109491066-109491066 + LUAD-CHTN-3090415 COSM357216 c.3196G>C p.E1066Q Substitution - Missense 12:109534771-109534771 + sysucc-880T COSM5462138 c.753G>A p.R251R Substitution - coding silent 12:109497857-109497857 + SA031 COSM212971 c.251T>A p.L84Q Substitution - Missense 12:109483950-109483950 + TCGA-EI-6917-01 COSM168145 c.1706C>A p.S569Y Substitution - Missense 12:109509679-109509679 + SC_9047 COSM5556957 c.530T>A p.I177N Substitution - Missense 12:109488654-109488654 + TCGA-AP-A0LM-01 COSM934838 c.2472C>T p.S824S Substitution - coding silent 12:109524085-109524085 + PD13162a COSM5779881 c.600C>T p.L200L Substitution - coding silent 12:109489974-109489974 + MI4 COSM1165204 c.3005C>T p.S1002L Substitution - Missense 12:109533548-109533548 + S00501 COSM316329 c.708G>A p.A236A Substitution - coding silent 12:109491122-109491122 + 179 COSM1741517 c.719T>C p.V240A Substitution - Missense 12:109497823-109497823 + T22 COSM1716396 c.3197A>T p.E1066V Substitution - Missense 12:109534772-109534772 + TCGA-A6-5665-01 COSM1358621 c.2428A>G p.S810G Substitution - Missense 12:109524041-109524041 + LOVO COSM1946549 c.1433G>A p.R478Q Substitution - Missense 12:109503173-109503173 + HCC2998 COSM168145 c.1706C>A p.S569Y Substitution - Missense 12:109509679-109509679 + CN-AML-NR-08-Dx COSM5425998 c.2886C>T p.S962S Substitution - coding silent 12:109530622-109530622 + PT29 COSM5906554 c.943A>C p.N315H Substitution - Missense 12:109499635-109499635 + PT48 COSM934840 c.2925C>T p.F975F Substitution - coding silent 12:109533468-109533468 + YUROC COSM5374125 c.1256C>T p.S419F Substitution - Missense 12:109501508-109501508 + T2940 COSM4738737 c.2164G>A p.E722K Substitution - Missense 12:109521235-109521235 + sysucc-834T COSM5485544 c.2547C>T p.Y849Y Substitution - coding silent 12:109524482-109524482 + UD-SCC-2 COSM4202945 c.302G>A p.R101H Substitution - Missense 12:109486031-109486031 + TCGA-28-5213-01 COSM3398329 c.32G>A p.W11* Substitution - Nonsense 12:109483583-109483583 + ESCC-249T COSM3935728 c.1873G>A p.V625M Substitution - Missense 12:109511220-109511220 + TCGA-D3-A5GO-06 COSM3455870 c.1119-1G>A p.? Unknown 12:109501370-109501370 + TCGA-B5-A11E-01 COSM934836 c.2112C>T p.H704H Substitution - coding silent 12:109521183-109521183 + TCGA-D5-5541-01 COSM1358629 c.3039C>T p.S1013S Substitution - coding silent 12:109534614-109534614 + TCGA-CM-4750-01 COSM3687943 c.2654A>G p.H885R Substitution - Missense 12:109529916-109529916 + TCGA-EE-A3AG-06 COSM1358619 c.861C>T p.F287F Substitution - coding silent 12:109498274-109498274 + TCGA-51-4080-01 COSM691314 c.2961C>T p.F987F Substitution - coding silent 12:109533504-109533504 + C086 COSM5541267 c.2031C>T p.S677S Substitution - coding silent 12:109516839-109516839 + TCGA-B5-A0JR-01 COSM934821 c.247C>T p.L83L Substitution - coding silent 12:109483946-109483946 + TCGA-D3-A2JH-06 COSM3455881 c.2694C>T p.A898A Substitution - coding silent 12:109529956-109529956 + HCC093T COSM5810969 c.2817C>T p.H939H Substitution - coding silent 12:109530553-109530553 + LIM2405 COSM4641614 c.661C>T p.R221C Substitution - Missense 12:109491075-109491075 + TCGA-G2-A2EJ-01 COSM1298881 c.600C>G p.L200L Substitution - coding silent 12:109489974-109489974 + PT33 COSM5909312 c.2608C>T p.P870S Substitution - Missense 12:109526397-109526397 + Pat_44_B COSM4738737 c.2164G>A p.E722K Substitution - Missense 12:109521235-109521235 + TCGA-D5-6537-01 COSM1358628 c.3021C>T p.T1007T Substitution - coding silent 12:109534596-109534596 + TCGA-EO-A1Y5-01 COSM934835 c.1899C>A p.D633E Substitution - Missense 12:109511246-109511246 + HCT15 COSM1946558 c.1944C>T p.I648I Substitution - coding silent 12:109511291-109511291 + 8014573 COSM3384016 c.1404G>C p.Q468H Substitution - Missense 12:109503144-109503144 + TCGA-24-1419-01 COSM73182 c.2854G>T p.V952F Substitution - Missense 12:109530590-109530590 + LUAD-NYU1051S COSM368564 c.668G>A p.C223Y Substitution - Missense 12:109491082-109491082 + TCGA-AX-A0J0-01 COSM934832 c.1432C>T p.R478W Substitution - Missense 12:109503172-109503172 + DLD1 COSM1946558 c.1944C>T p.I648I Substitution - coding silent 12:109511291-109511291 + CSCC-18-T COSM4525150 c.1312G>A p.A438T Substitution - Missense 12:109503052-109503052 + ccRCC-56 COSM1659533 c.3148G>A p.V1050I Substitution - Missense 12:109534723-109534723 + TCGA-BS-A0UV-01 COSM934837 c.2202C>A p.F734L Substitution - Missense 12:109521273-109521273 + TCGA-GN-A26C-01 COSM3455865 c.674C>T p.S225F Substitution - Missense 12:109491088-109491088 + QC2-30-T2 COSM5653707 c.437A>G p.K146R Substitution - Missense 12:109486565-109486565 + YUMER COSM1706255 c.877G>A p.D293N Substitution - Missense 12:109498290-109498290 + LP6005409-DNA_C01 COSM5951813 c.2628-3C>T p.? Unknown 12:109529887-109529887 + TCGA-AP-A059-01 COSM934828 c.821G>A p.R274H Substitution - Missense 12:109498234-109498234 + BD114T COSM5503957 c.2365-10G>A p.? Unknown 12:109523968-109523968 + TCGA-BT-A2LB-01 COSM3792167 c.1417A>G p.T473A Substitution - Missense 12:109503157-109503157 + T2197 COSM4738735 c.1294C>T p.R432C Substitution - Missense 12:109503034-109503034 + TCGA-D5-6928-01 COSM1358620 c.893G>A p.R298H Substitution - Missense 12:109498306-109498306 + MO_1337 COSM5553526 c.1503G>A p.E501E Substitution - coding silent 12:109507616-109507616 + LUAD-B00859 COSM332217 c.206C>T p.T69I Substitution - Missense 12:109483905-109483905 + T3658 COSM1946578 c.2779G>A p.D927N Substitution - Missense 12:109530041-109530041 + RK178_C01 COSM3739419 c.2773T>G p.S925A Substitution - Missense 12:109530035-109530035 + LS411 COSM1946550 c.1438C>T p.Q480* Substitution - Nonsense 12:109503178-109503178 + PT44 COSM5926852 c.532C>T p.L178F Substitution - Missense 12:109488656-109488656 + DLD1 COSM4622421 c.2505C>A p.R835R Substitution - coding silent 12:109524440-109524440 + TCGA-EW-A1J5-01 COSM1476110 c.2103C>G p.L701L Substitution - coding silent 12:109521174-109521174 + TCGA-CM-5861-01 COSM1358625 c.2962G>A p.A988T Substitution - Missense 12:109533505-109533505 + HCC149T COSM5817331 c.83A>G p.E28G Substitution - Missense 12:109483634-109483634 + TCGA-BR-6706-01 COSM4038565 c.2327A>G p.E776G Substitution - Missense 12:109521514-109521514 + T2269 COSM4738738 c.2551G>A p.E851K Substitution - Missense 12:109524486-109524486 + TCGA-EE-A2M5-06 COSM3455876 c.1698C>T p.F566F Substitution - coding silent 12:109509671-109509671 + ZZUFHECRKL-G012T COSM5435296 c.2493C>T p.T831T Substitution - coding silent 12:109524106-109524106 + LIM1899 COSM4639824 c.1410G>A p.S470S Substitution - coding silent 12:109503150-109503150 + T2269 COSM934819 c.142C>T p.R48* Substitution - Nonsense 12:109483693-109483693 + TCGA-AP-A0LM-01 COSM934834 c.1596C>T p.F532F Substitution - coding silent 12:109507709-109507709 + TCGA-EW-A1PC-01 COSM3810954 c.3177C>G p.I1059M Substitution - Missense 12:109534752-109534752 + TCGA-A2-A0EV-01 COSM430301 c.2141T>C p.F714S Substitution - Missense 12:109521212-109521212 + T1 COSM5617676 c.1037G>A p.R346Q Substitution - Missense 12:109499729-109499729 + PA285 COSM1162984 c.1332C>T p.L444L Substitution - coding silent 12:109503072-109503072 + CSCC-40-T COSM4485558 c.2948C>T p.P983L Substitution - Missense 12:109533491-109533491 + TCGA-BQ-5889-01 COSM3986613 c.1183C>T p.R395W Substitution - Missense 12:109501435-109501435 + YUKLAB COSM1706256 c.2024C>T p.S675F Substitution - Missense 12:109516832-109516832 + TCGA-AP-A051-01 COSM934826 c.696T>G p.A232A Substitution - coding silent 12:109491110-109491110 + TCGA-CF-A3MI-01 COSM1298880 c.563C>T p.A188V Substitution - Missense 12:109489937-109489937 + TCGA-GC-A3RC-01 COSM3792161 c.790G>A p.V264M Substitution - Missense 12:109497894-109497894 + TCGA-B5-A0K7-01 COSM934822 c.353T>C p.V118A Substitution - Missense 12:109486481-109486481 + TCGA-EE-A2MR-06 COSM3455860 c.535C>T p.R179W Substitution - Missense 12:109488659-109488659 + TCGA-CM-6162-01 COSM1358630 c.3189G>A p.T1063T Substitution - coding silent 12:109534764-109534764 + TCGA-B5-A0JY-01 COSM934830 c.1126G>A p.E376K Substitution - Missense 12:109501378-109501378 + 112140 COSM95681 c.592G>T p.G198* Substitution - Nonsense 12:109489966-109489966 + Au9 COSM4738721 c.48C>T p.A16A Substitution - coding silent 12:109483599-109483599 + CHC2113T COSM4788400 c.1125C>A p.N375K Substitution - Missense 12:109501377-109501377 + TCGA-F5-6814-01 COSM3416457 c.212G>T p.R71I Substitution - Missense 12:109483911-109483911 + TCGA-D5-6531-01 COSM3687941 c.1891G>A p.D631N Substitution - Missense 12:109511238-109511238 + Au3 COSM5602547 c.2709C>T p.F903F Substitution - coding silent 12:109529971-109529971 + CSCC-44-T COSM4511960 c.886C>T p.R296* Substitution - Nonsense 12:109498299-109498299 + T3151 COSM934840 c.2925C>T p.F975F Substitution - coding silent 12:109533468-109533468 + sysucc-311T COSM934840 c.2925C>T p.F975F Substitution - coding silent 12:109533468-109533468 + SWE-54A COSM1178430 c.838T>C p.S280P Substitution - Missense 12:109498251-109498251 + TCGA-DG-A2KK-01 COSM4828266 c.1665C>T p.F555F Substitution - coding silent 12:109509638-109509638 + CHC892T COSM4796267 c.3155G>A p.R1052H Substitution - Missense 12:109534730-109534730 + TCGA-EE-A3J7-06 COSM3870699 c.1398C>T p.L466L Substitution - coding silent 12:109503138-109503138 + TCGA-G2-A2EJ-01 COSM1298884 c.1194C>A p.F398L Substitution - Missense 12:109501446-109501446 + TCGA-G2-A2EJ-01 COSM1298885 c.2393C>G p.S798C Substitution - Missense 12:109524006-109524006 + TCGA-BS-A0UA-01 COSM934821 c.247C>T p.L83L Substitution - coding silent 12:109483946-109483946 + TCGA-D1-A17Q-01 COSM934832 c.1432C>T p.R478W Substitution - Missense 12:109503172-109503172 + TCGA-21-1076-01 COSM691318 c.1056G>C p.K352N Substitution - Missense 12:109499748-109499748 + TCGA-CZ-5451-01 COSM467761 c.1693T>C p.S565P Substitution - Missense 12:109509666-109509666 + YUGURT COSM934840 c.2925C>T p.F975F Substitution - coding silent 12:109533468-109533468 + TCGA-G2-A2EJ-01 COSM1298883 c.948C>G p.L316L Substitution - coding silent 12:109499640-109499640 + Pat_06_B COSM1231571 c.1243G>A p.A415T Substitution - Missense 12:109501495-109501495 + TCGA-BF-A1PZ-01 COSM4399201 c.2532C>T p.G844G Substitution - coding silent 12:109524467-109524467 + TCGA-AA-3510-01 COSM934829 c.853C>T p.R285C Substitution - Missense 12:109498266-109498266 + TCGA-EB-A44O-01 COSM3455868 c.1009T>A p.L337M Substitution - Missense 12:109499701-109499701 + 9227_T COSM5040172 c.68G>A p.R23K Substitution - Missense 12:109483619-109483619 + TCGA-AX-A0J0-01 COSM934833 c.1533C>A p.F511L Substitution - Missense 12:109507646-109507646 + KPOPBR-49-T COSM5963423 c.2507A>G p.Y836C Substitution - Missense 12:109524442-109524442 + TCGA-AC-A23H-01 COSM3810951 c.1051C>T p.Q351* Substitution - Nonsense 12:109499743-109499743 + 19M COSM5579926 c.1161C>T p.F387F Substitution - coding silent 12:109501413-109501413 + YUWAPO COSM5374127 c.1580C>T p.A527V Substitution - Missense 12:109507693-109507693 + 122891 COSM1645102 c.867A>G p.I289M Substitution - Missense 12:109498280-109498280 + MO_1316 COSM1269639 c.564G>A p.A188A Substitution - coding silent 12:109489938-109489938 + TCGA-FS-A1ZD-06 COSM1706256 c.2024C>T p.S675F Substitution - Missense 12:109516832-109516832 + PT15_1 COSM5897857 c.1742-6C>T p.? Unknown 12:109510338-109510338 + TCGA-D1-A103-01 COSM934829 c.853C>T p.R285C Substitution - Missense 12:109498266-109498266 + BD123T COSM1605550 c.447+5C>A p.? Unknown 12:109486580-109486580 + CSCC-56-T COSM4483954 c.2752C>T p.P918S Substitution - Missense 12:109530014-109530014 + MO_1074 COSM5547090 c.2835delT p.F946fs*28 Deletion - Frameshift 12:109530571-109530571 + PT37 COSM5920571 c.2591C>T p.P864L Substitution - Missense 12:109526380-109526380 + YURED COSM1706254 c.701C>T p.S234F Substitution - Missense 12:109491115-109491115 + TCGA-DG-A2KK-01 COSM4828365 c.1667A>T p.K556I Substitution - Missense 12:109509640-109509640 + TCGA-BR-4363-01 COSM4038568 c.2765G>A p.R922H Substitution - Missense 12:109530027-109530027 + TCGA-EI-6917-01 COSM3416461 c.1885G>T p.E629* Substitution - Nonsense 12:109511232-109511232 + TCGA-D1-A17H-01 COSM934818 c.92G>A p.R31Q Substitution - Missense 12:109483643-109483643 + T3658 COSM4738733 c.924T>C p.H308H Substitution - coding silent 12:109498337-109498337 + CHC892T COSM4796643 c.1252G>A p.A418T Substitution - Missense 12:109501504-109501504 + RK285_C01 COSM4778985 c.1116T>C p.Y372Y Substitution - coding silent 12:109499808-109499808 + ESCC_38 COSM5629055 c.2557G>A p.V853I Substitution - Missense 12:109524492-109524492 + TCGA-D1-A17Q-01 COSM934827 c.701C>A p.S234Y Substitution - Missense 12:109491115-109491115 + PT37 COSM5920572 c.2590C>T p.P864S Substitution - Missense 12:109526379-109526379 + PD18189a COSM3455872 c.1361C>T p.S454F Substitution - Missense 12:109503101-109503101 + TCGA-FW-A3R5-06 COSM3870697 c.1002C>T p.F334F Substitution - coding silent 12:109499694-109499694 + TCGA-04-1644-01 COSM1322020 c.1295G>A p.R432H Substitution - Missense 12:109503035-109503035 + GHE0609 COSM5714125 c.3191G>A p.G1064D Substitution - Missense 12:109534766-109534766 + ESO-S41 COSM1269639 c.564G>A p.A188A Substitution - coding silent 12:109489938-109489938 + PT37 COSM5920570 c.2302C>T p.H768Y Substitution - Missense 12:109521489-109521489 + B96 COSM1746730 c.739G>A p.D247N Substitution - Missense 12:109497843-109497843 + PC-9S1 COSM1684928 c.209A>G p.K70R Substitution - Missense 12:109483908-109483908 + TCGA-D8-A1XQ-01 COSM3810953 c.2215A>T p.I739F Substitution - Missense 12:109521286-109521286 + CHEWS001 COSM4574989 c.1890C>T p.L630L Substitution - coding silent 12:109511237-109511237 + TCGA-CG-4305-01 COSM4038553 c.785C>A p.A262D Substitution - Missense 12:109497889-109497889 + TCGA-BT-A3PJ-01 COSM3792165 c.1360T>A p.S454T Substitution - Missense 12:109503100-109503100 + TCGA-BR-7717-01 COSM1358620 c.893G>A p.R298H Substitution - Missense 12:109498306-109498306 + TCGA-BR-4184-01 COSM4038567 c.2516A>G p.D839G Substitution - Missense 12:109524451-109524451 + TCGA-CG-5728-01 COSM1510727 c.3046C>T p.R1016W Substitution - Missense 12:109534621-109534621 + Pat_59_A COSM5840068 c.2086G>A p.E696K Substitution - Missense 12:109521157-109521157 + CSCC-54-T COSM4551283 c.524G>A p.W175* Substitution - Nonsense 12:109488648-109488648 + TCGA-A6-6781-01 COSM1298880 c.563C>T p.A188V Substitution - Missense 12:109489937-109489937 + CLL048 COSM1289677 c.1357G>A p.D453N Substitution - Missense 12:109503097-109503097 + TCGA-GC-A3YS-01 COSM3792163 c.1140G>A p.L380L Substitution - coding silent 12:109501392-109501392 + CHC1763T COSM4789745 c.1356C>T p.V452V Substitution - coding silent 12:109503096-109503096 + TCGA-A3-3357-01 COSM467760 c.816T>C p.P272P Substitution - coding silent 12:109497920-109497920 + DN110CD COSM5779881 c.600C>T p.L200L Substitution - coding silent 12:109489974-109489974 + ACINAR01 COSM1732818 c.1622C>T p.T541I Substitution - Missense 12:109507735-109507735 + ESCC_139 COSM5643214 c.330G>A p.E110E Substitution - coding silent 12:109486059-109486059 + TCGA-HU-A4GN-01 COSM4038563 c.1786G>A p.G596R Substitution - Missense 12:109510388-109510388 + T636 COSM4738729 c.536G>A p.R179Q Substitution - Missense 12:109488660-109488660 + HCC2998 COSM168145 c.1706C>A p.S569Y Substitution - Missense 12:109509679-109509679 + TCGA-BR-8678-01 COSM4038548 c.87G>A p.R29R Substitution - coding silent 12:109483638-109483638 + TCGA-FS-A1ZM-06 COSM3455882 c.2978C>T p.P993L Substitution - Missense 12:109533521-109533521 + HCC81 COSM3703848 c.2084A>G p.Y695C Substitution - Missense 12:109521155-109521155 + TCGA-B5-A11O-01 COSM934839 c.2669C>T p.T890I Substitution - Missense 12:109529931-109529931 + TCGA-B5-A11M-01 COSM934820 c.189A>C p.A63A Substitution - coding silent 12:109483888-109483888 + TCGA-24-2262-01 COSM73181 c.2497A>T p.I833F Substitution - Missense 12:109524110-109524110 + TCGA-AP-A0LE-01 COSM934823 c.446A>G p.K149R Substitution - Missense 12:109486574-109486574 + K20-Tumor COSM249186 c.290A>C p.E97A Substitution - Missense 12:109486019-109486019 + TCGA-D9-A3Z1-06 COSM3455880 c.2301C>T p.I767I Substitution - coding silent 12:109521488-109521488 + TCGA-CC-5261-01 COSM4933556 c.3156C>T p.R1052R Substitution - coding silent 12:109534731-109534731 + T2999 COSM934829 c.853C>T p.R285C Substitution - Missense 12:109498266-109498266 + CSCC-7-T COSM4467643 c.14C>T p.S5F Substitution - Missense 12:109483565-109483565 + 587376 COSM1231572 c.407A>G p.N136S Substitution - Missense 12:109486535-109486535 + TCGA-HU-A4H0-01 COSM4038559 c.1457C>T p.T486I Substitution - Missense 12:109507570-109507570 + TCGA-B5-A11E-01 COSM934840 c.2925C>T p.F975F Substitution - coding silent 12:109533468-109533468 + TCGA-AX-A0J0-01 COSM168145 c.1706C>A p.S569Y Substitution - Missense 12:109509679-109509679 + TCGA-AP-A051-01 COSM934821 c.247C>T p.L83L Substitution - coding silent 12:109483946-109483946 + BD188T COSM1605550 c.447+5C>A p.? Unknown 12:109486580-109486580 + PD5944a COSM5796510 c.2698A>T p.I900F Substitution - Missense 12:109529960-109529960 + Gp2D COSM1946551 c.1523T>A p.L508* Substitution - Nonsense 12:109507636-109507636 + TCGA-AP-A051-01 COSM934824 c.488T>C p.L163P Substitution - Missense 12:109488612-109488612 + TCGA-FU-A2QG-01 COSM4849124 c.1756G>A p.E586K Substitution - Missense 12:109510358-109510358 + Patient_4 COSM5414450 c.839C>T p.S280F Substitution - Missense 12:109498252-109498252 + KM12 COSM1946568 c.2189delT p.F731fs*71 Deletion - Frameshift 12:109521260-109521260 + HCC058T COSM5804591 c.191A>T p.D64V Substitution - Missense 12:109483890-109483890 + PM-1 COSM4828365 c.1667A>T p.K556I Substitution - Missense 12:109509640-109509640 + sysucc-1925T COSM5450848 c.1853G>A p.R618Q Substitution - Missense 12:109510455-109510455 + ME037T COSM227852 c.1737T>G p.I579M Substitution - Missense 12:109509710-109509710 + PD3988a COSM165372 c.1316C>G p.S439* Substitution - Nonsense 12:109503056-109503056 + CN-AML-08-T COSM5425998 c.2886C>T p.S962S Substitution - coding silent 12:109530622-109530622 + Patient_4 COSM5414452 c.840C>T p.S280S Substitution - coding silent 12:109498253-109498253 + TCGA-HU-A4G9-01 COSM4038551 c.752G>A p.R251Q Substitution - Missense 12:109497856-109497856 + TCGA-DD-A116-01 COSM4912252 c.1119-2A>G p.? Unknown 12:109501369-109501369 + T3262 COSM934836 c.2112C>T p.H704H Substitution - coding silent 12:109521183-109521183 + ESOSCC154T COSM1171869 c.154G>A p.D52N Substitution - Missense 12:109483705-109483705 + K20 COSM249186 c.290A>C p.E97A Substitution - Missense 12:109486019-109486019 + TCGA-B5-A11N-01 COSM934819 c.142C>T p.R48* Substitution - Nonsense 12:109483693-109483693 + 473-02-1TD COSM5418217 c.612A>T p.G204G Substitution - coding silent 12:109489986-109489986 + T2940 COSM4738721 c.48C>T p.A16A Substitution - coding silent 12:109483599-109483599 + 260T COSM1726959 c.1027T>C p.C343R Substitution - Missense 12:109499719-109499719 + TCGA-EE-A2MR-06 COSM934840 c.2925C>T p.F975F Substitution - coding silent 12:109533468-109533468 + C0037T COSM4166040 c.1272C>T p.L424L Substitution - coding silent 12:109501524-109501524 + Gp5D COSM1946551 c.1523T>A p.L508* Substitution - Nonsense 12:109507636-109507636 + TCGA-DK-A1A5-01 COSM415631 c.2942G>A p.R981K Substitution - Missense 12:109533485-109533485 + RK016_C01 COSM1628367 c.468C>T p.S156S Substitution - coding silent 12:109488592-109488592 + Pat_14_B COSM4641614 c.661C>T p.R221C Substitution - Missense 12:109491075-109491075 + HX11T COSM1605550 c.447+5C>A p.? Unknown 12:109486580-109486580 + TCGA-E2-A1BD-01 COSM430300 c.1834C>G p.P612A Substitution - Missense 12:109510436-109510436 + TCGA-G9-6342-01 COSM546146 c.469C>A p.R157R Substitution - coding silent 12:109488593-109488593 + TCGA-AU-6004-01 COSM1358618 c.59G>A p.R20Q Substitution - Missense 12:109483610-109483610 + PT52 COSM5940358 c.3015+6C>T p.? Unknown 12:109533564-109533564 + TCGA-EI-6507-01 COSM1358629 c.3039C>T p.S1013S Substitution - coding silent 12:109534614-109534614 + sysucc-311T COSM4574989 c.1890C>T p.L630L Substitution - coding silent 12:109511237-109511237 + CHC1763T COSM4789745 c.1356C>T p.V452V Substitution - coding silent 12:109503096-109503096 + ESO-153 COSM1269637 c.2556C>T p.D852D Substitution - coding silent 12:109524491-109524491 + T2269 COSM4738724 c.85C>T p.R29W Substitution - Missense 12:109483636-109483636 + S02139 COSM5674076 c.1914G>T p.Q638H Substitution - Missense 12:109511261-109511261 + sysucc-882T COSM5446994 c.820C>T p.R274C Substitution - Missense 12:109498233-109498233 + CHC892T COSM4796267 c.3155G>A p.R1052H Substitution - Missense 12:109534730-109534730 + TCGA-HU-A4G8-01 COSM1510727 c.3046C>T p.R1016W Substitution - Missense 12:109534621-109534621 + ESCC_68 COSM5633843 c.2794G>C p.D932H Substitution - Missense 12:109530056-109530056 + T3104 COSM4738739 c.3047G>T p.R1016L Substitution - Missense 12:109534622-109534622 + BD135T COSM415632 c.50G>A p.R17H Substitution - Missense 12:109483601-109483601 + TCGA-BR-8487-01 COSM1322020 c.1295G>A p.R432H Substitution - Missense 12:109503035-109503035 + TCGA-34-2608-01 COSM691319 c.172G>A p.D58N Substitution - Missense 12:109483871-109483871 + TCGA-B5-A0JY-01 COSM934841 c.3166C>T p.R1056C Substitution - Missense 12:109534741-109534741 + TCGA-BS-A0UV-01 COSM934825 c.532C>A p.L178I Substitution - Missense 12:109488656-109488656 + TCGA-EE-A181-06 COSM3455874 c.1483C>T p.L495L Substitution - coding silent 12:109507596-109507596 + TCGA-A8-A0A6-01 COSM3810946 c.502A>C p.T168P Substitution - Missense 12:109488626-109488626 + T3038 COSM4738740 c.3171C>T p.Y1057Y Substitution - coding silent 12:109534746-109534746 + LUAD-D00147 COSM391443 c.810delG p.T271fs*8 Deletion - Frameshift 12:109497914-109497914 + 587270 COSM1231570 c.2057G>A p.R686H Substitution - Missense 12:109516865-109516865 + TCGA-G2-A2EJ-01 COSM1298882 c.703C>G p.L235V Substitution - Missense 12:109491117-109491117 + LIM2405 COSM4613296 c.445delA p.K149fs*41 Deletion - Frameshift 12:109486573-109486573 + 87969 COSM96257 c.412T>C p.L138L Substitution - coding silent 12:109486540-109486540 + ESCC_117 COSM5639991 c.2037T>C p.H679H Substitution - coding silent 12:109516845-109516845 + STC232 COSM1659533 c.3148G>A p.V1050I Substitution - Missense 12:109534723-109534723 + I2L-P7-Tumor-Organoid COSM5361986 c.878A>G p.D293G Substitution - Missense 12:109498291-109498291 + HCT8 COSM1946558 c.1944C>T p.I648I Substitution - coding silent 12:109511291-109511291 + DN1121A COSM3455872 c.1361C>T p.S454F Substitution - Missense 12:109503101-109503101 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.374061;Hs.374067 12q24.11 608047

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E776G c.2327A>G 12 109959319 STAD A G Missense p.K149R c.446A>G 12 109924379 UCEC A G Missense p.T473A c.1417A>G 12 109940962 BLCA A T Missense p.I833F c.2497A>T 12 109961915 OV A T Synonymous p.G204G c.612A>T 12 109927791 CLL C A IntronicSNV . c.819+97C>A 12 109935825 NSCLC C A Missense p.A262D c.785C>A 12 109935694 STAD C A Missense p.D633E c.1899C>A 12 109949051 UCEC C A Missense p.F398L c.1194C>A 12 109939251 BLCA C A Missense p.F610L c.1830C>A 12 109948237 CM C A Synonymous p.P909P c.2727C>A 12 109967794 STAD C G Missense p.L235V c.703C>G 12 109928922 BLCA C G Missense p.L249V c.745C>G 12 109935654 LUAD C G Missense p.P612A c.1834C>G 12 109948241 BRCA C G Missense p.Q421E c.1261C>G 12 109939318 BRCA C G Missense p.S798C c.2393C>G 12 109961811 BLCA C G Nonsense p.S439* c.1316C>G 12 109940861 BRCA C G Synonymous p.L200L c.600C>G 12 109927779 BLCA C G Synonymous p.L316L c.948C>G 12 109937445 BLCA C T Missense p.A188V c.563C>T 12 109927742 BLCA C T Missense p.P993L c.2978C>T 12 109971326 CM C T Missense p.R1016W c.3046C>T 12 109972426 STAD C T Missense p.R1056C c.3166C>T 12 109972546 HNSC C T Missense p.S225F c.674C>T 12 109928893 CM C T Missense p.S246L c.737C>T 12 109935646 BLCA C T Missense p.S437L c.1310C>T 12 109940855 ESCA C T Missense p.S675F c.2024C>T 12 109954637 CM C T Synonymous p.A898A c.2694C>T 12 109967761 CM C T Synonymous p.D852D c.2556C>T 12 109962296 ESCA C T Synonymous p.F287F c.861C>T 12 109936079 CM C T Synonymous p.F566F c.1698C>T 12 109947476 CM C T Synonymous p.F975F c.2925C>T 12 109971273 CM C T Synonymous p.F987F c.2961C>T 12 109971309 LUSC C T Synonymous p.G844G c.2532C>T 12 109962272 CM C T Synonymous p.I13I c.39C>T 12 109921395 CM C T Synonymous p.L1051L c.3153C>T 12 109972533 CM C T Synonymous p.L466L c.1398C>T 12 109940943 CM C T Synonymous p.L495L c.1483C>T 12 109945401 CM C T Synonymous p.L984L c.2952C>T 12 109971300 CM C T Synonymous p.S119S c.357C>T 12 109924290 COREAD C T Synonymous p.S156S c.468C>T 12 109926397 HC C T Synonymous p.T214T c.642C>T 12 109928861 CM G A IntronicSNV . c.630+199G>A 12 109928008 HC G A Missense p.D453N c.1357G>A 12 109940902 CLL G A Missense p.D58N c.172G>A 12 109921676 LUSC G A Missense p.D633N c.1897G>A 12 109949049 CM G A Missense p.E91K c.271G>A 12 109921775 ESCA G A Missense p.G448R c.1342G>A 12 109940887 COREAD G A Missense p.R23K c.68G>A 12 109921424 CM G A Missense p.R31Q c.92G>A 12 109921448 UCEC G A Missense p.R634K c.1901G>A 12 109949053 LUSC G A Missense p.R922H c.2765G>A 12 109967832 STAD G A Missense p.R981K c.2942G>A 12 109971290 BLCA G A Missense p.V794M c.2380G>A 12 109961798 RCCC G A Nonsense p.W11* c.32G>A 12 109921388 GBM G A Nonsense p.W175* c.525G>A 12 109926454 CM G A Synonymous p.A188A c.564G>A 12 109927743 ESCA G A Synonymous p.A236A c.708G>A 12 109928927 SCLC G A Synonymous p.L529L c.1587G>A 12 109945505 HNSC G C Missense p.K352N c.1056G>C 12 109937553 LUSC GG TT Missense p.G1012C c.3033_3034delinsTT 12 109972413 HNSC G T Missense p.C461F c.1382G>T 12 109940927 LUAD G T Missense p.G1064C c.3190G>T 12 109972570 HNSC G T Missense p.Q37H c.111G>T 12 109921467 LUAD G T Missense p.V952F c.2854G>T 12 109968395 OV G T Nonsense p.E851* c.2551G>T 12 109962291 LUSC G T Synonymous p.T341T c.1023G>T 12 109937520 LUAD T A Missense p.F903I c.2707T>A 12 109967774 RCCC T A Missense p.L84Q c.251T>A 12 109921755 BRCA T A Missense p.S454T c.1360T>A 12 109940905 BLCA T C Missense p.F714S c.2141T>C 12 109959017 BRCA T C Missense p.L278S c.833T>C 12 109936051 LUAD T C Missense p.V118A c.353T>C 12 109924286 UCEC T C Synonymous p.P272P c.816T>C 12 109935725 RCCC T G Missense p.I579M c.1737T>G 12 109947515 CM