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 1 248039228 248039228 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr1:248039228G>T c.898G>T c.(898-900)Gcg>Tcg p.A300S ACC 1 248039251 248039251 + Silent SNP C C T TCGA-OR-A5J6-01A-31D-A29I-10 TCGA-OR-A5J6-10A-01D-A29L-10 g.chr1:248039251C>T c.921C>T c.(919-921)acC>acT p.T307T BLCA 1 248020677 248020677 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr1:248020677C>T c.129C>T c.(127-129)ttC>ttT p.F43F BLCA 1 248023982 248023982 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 g.chr1:248023982G>A c.484G>A c.(484-486)Gcc>Acc p.A162T BLCA 1 248028105 248028105 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr1:248028105G>A c.615G>A c.(613-615)gaG>gaA p.E205E BLCA 1 248039263 248039263 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:248039263C>T c.933C>T c.(931-933)cgC>cgT p.R311R BLCA 1 248039323 248039323 + Silent SNP A A G TCGA-FD-A5C1-01A-11D-A289-08 TCGA-FD-A5C1-10A-01D-A289-08 g.chr1:248039323A>G c.993A>G c.(991-993)acA>acG p.T331T BLCA 1 248039733 248039733 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr1:248039733A>G c.1403A>G c.(1402-1404)aAt>aGt p.N468S BRCA 1 248028177 248028177 + Silent SNP G G A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 g.chr1:248028177G>A c.687G>A c.(685-687)ctG>ctA p.L229L BRCA 1 248039226 248039226 + Missense_Mutation SNP C C T TCGA-BH-A0BP-01A-11D-A10Y-09 TCGA-BH-A0BP-10A-01D-A110-09 g.chr1:248039226C>T c.896C>T c.(895-897)aCg>aTg p.T299M BRCA 1 248039236 248039236 + Silent SNP G G A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 g.chr1:248039236G>A c.906G>A c.(904-906)ccG>ccA p.P302P BRCA 1 248039402 248039402 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:248039402T>G c.1072T>G c.(1072-1074)Tgg>Ggg p.W358G BRCA 1 248039412 248039412 + Missense_Mutation SNP G G A TCGA-E2-A15R-01A-11D-A10Y-09 TCGA-E2-A15R-10A-01D-A110-09 g.chr1:248039412G>A c.1082G>A c.(1081-1083)gGg>gAg p.G361E BRCA 1 248039569 248039569 + Missense_Mutation SNP T T G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 g.chr1:248039569T>G c.1239T>G c.(1237-1239)atT>atG p.I413M CESC 1 248039396 248039396 + Missense_Mutation SNP G G T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 g.chr1:248039396G>T c.1066G>T c.(1066-1068)Gca>Tca p.A356S CESC 1 248039699 248039699 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:248039699A>T c.1369A>T c.(1369-1371)Atc>Ttc p.I457F CESC 1 248039700 248039700 + Missense_Mutation SNP T T C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 g.chr1:248039700T>C c.1370T>C c.(1369-1371)aTc>aCc p.I457T COAD 1 248020556 248020556 + Missense_Mutation SNP G G C TCGA-AZ-4323-01A-21D-1835-10 TCGA-AZ-4323-10A-01D-1835-10 g.chr1:248020556G>C c.8G>C c.(7-9)tGg>tCg p.W3S COAD 1 248020672 248020672 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:248020672G>A c.124G>A c.(124-126)Gag>Aag p.E42K COAD 1 248020704 248020704 + Silent SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:248020704C>T c.156C>T c.(154-156)ggC>ggT p.G52G COAD 1 248020714 248020714 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:248020714G>A c.166G>A c.(166-168)Gcc>Acc p.A56T COAD 1 248023991 248023991 + Missense_Mutation SNP G G T TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr1:248023991G>T c.493G>T c.(493-495)Ggg>Tgg p.G165W COAD 1 248028031 248028031 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:248028031C>T c.541C>T c.(541-543)Cgc>Tgc p.R181C COAD 1 248031320 248031320 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:248031320G>A c.826G>A c.(826-828)Gca>Aca p.A276T COAD 1 248039221 248039221 + Silent SNP C C T TCGA-CA-5255-01A-11D-1835-10 TCGA-CA-5255-10A-01D-1835-10 g.chr1:248039221C>T c.891C>T c.(889-891)ccC>ccT p.P297P COAD 1 248039238 248039238 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:248039238G>A c.908G>A c.(907-909)aGt>aAt p.S303N COAD 1 248039416 248039416 + Silent SNP C C A TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr1:248039416C>A c.1086C>A c.(1084-1086)gtC>gtA p.V362V COAD 1 248039448 248039448 + Missense_Mutation SNP C C T TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr1:248039448C>T c.1118C>T c.(1117-1119)aCc>aTc p.T373I COAD 1 248039451 248039451 + Missense_Mutation SNP C C T TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr1:248039451C>T c.1121C>T c.(1120-1122)aCg>aTg p.T374M COAD 1 248039484 248039484 + Missense_Mutation SNP G G T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:248039484G>T c.1154G>T c.(1153-1155)tGg>tTg p.W385L COAD 1 248039702 248039702 + Missense_Mutation SNP T T A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr1:248039702T>A c.1372T>A c.(1372-1374)Ttg>Atg p.L458M COAD 1 248039702 248039702 + Silent SNP T T C TCGA-A6-2671-01A-01D-1408-10 TCGA-A6-2671-10A-01D-1408-10 g.chr1:248039702T>C c.1372T>C c.(1372-1374)Ttg>Ctg p.L458L COAD 1 248039702 248039702 + Silent SNP T T C TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr1:248039702T>C c.1372T>C c.(1372-1374)Ttg>Ctg p.L458L COAD 1 248039702 248039702 + Silent SNP T T C TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr1:248039702T>C c.1372T>C c.(1372-1374)Ttg>Ctg p.L458L COAD 1 248039742 248039742 + Missense_Mutation SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:248039742C>A c.1412C>A c.(1411-1413)tCc>tAc p.S471Y COAD 1 248039771 248039771 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:248039771G>A c.1441G>A c.(1441-1443)Gta>Ata p.V481I COAD 1 248039771 248039771 + Missense_Mutation SNP G G A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr1:248039771G>A c.1441G>A c.(1441-1443)Gta>Ata p.V481I COADREAD 1 248020556 248020556 + Missense_Mutation SNP G G C TCGA-AZ-4323-01A-21D-1835-10 TCGA-AZ-4323-10A-01D-1835-10 g.chr1:248020556G>C c.8G>C c.(7-9)tGg>tCg p.W3S COADREAD 1 248020672 248020672 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:248020672G>A c.124G>A c.(124-126)Gag>Aag p.E42K COADREAD 1 248020704 248020704 + Silent SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:248020704C>T c.156C>T c.(154-156)ggC>ggT p.G52G COADREAD 1 248020714 248020714 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:248020714G>A c.166G>A c.(166-168)Gcc>Acc p.A56T COADREAD 1 248023991 248023991 + Missense_Mutation SNP G G T TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr1:248023991G>T c.493G>T c.(493-495)Ggg>Tgg p.G165W COADREAD 1 248023999 248023999 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:248023999G>T c.501G>T c.(499-501)aaG>aaT p.K167N COADREAD 1 248028031 248028031 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:248028031C>T c.541C>T c.(541-543)Cgc>Tgc p.R181C COADREAD 1 248028063 248028063 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:248028063C>A c.573C>A c.(571-573)ggC>ggA p.G191G COADREAD 1 248031152 248031152 + Silent SNP G G C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr1:248031152G>C c.753G>C c.(751-753)gtG>gtC p.V251V COADREAD 1 248031320 248031320 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:248031320G>A c.826G>A c.(826-828)Gca>Aca p.A276T COADREAD 1 248039221 248039221 + Silent SNP C C T TCGA-CA-5255-01A-11D-1835-10 TCGA-CA-5255-10A-01D-1835-10 g.chr1:248039221C>T c.891C>T c.(889-891)ccC>ccT p.P297P COADREAD 1 248039238 248039238 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:248039238G>A c.908G>A c.(907-909)aGt>aAt p.S303N COADREAD 1 248039416 248039416 + Silent SNP C C A TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr1:248039416C>A c.1086C>A c.(1084-1086)gtC>gtA p.V362V COADREAD 1 248039448 248039448 + Missense_Mutation SNP C C T TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr1:248039448C>T c.1118C>T c.(1117-1119)aCc>aTc p.T373I COADREAD 1 248039451 248039451 + Missense_Mutation SNP C C T TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr1:248039451C>T c.1121C>T c.(1120-1122)aCg>aTg p.T374M COADREAD 1 248039484 248039484 + Missense_Mutation SNP G G T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:248039484G>T c.1154G>T c.(1153-1155)tGg>tTg p.W385L COADREAD 1 248039702 248039702 + Missense_Mutation SNP T T A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr1:248039702T>A c.1372T>A c.(1372-1374)Ttg>Atg p.L458M COADREAD 1 248039702 248039702 + Silent SNP T T C TCGA-A6-2671-01A-01D-1408-10 TCGA-A6-2671-10A-01D-1408-10 g.chr1:248039702T>C c.1372T>C c.(1372-1374)Ttg>Ctg p.L458L COADREAD 1 248039702 248039702 + Silent SNP T T C TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr1:248039702T>C c.1372T>C c.(1372-1374)Ttg>Ctg p.L458L COADREAD 1 248039702 248039702 + Silent SNP T T C TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr1:248039702T>C c.1372T>C c.(1372-1374)Ttg>Ctg p.L458L COADREAD 1 248039742 248039742 + Missense_Mutation SNP C C A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:248039742C>A c.1412C>A c.(1411-1413)tCc>tAc p.S471Y COADREAD 1 248039771 248039771 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:248039771G>A c.1441G>A c.(1441-1443)Gta>Ata p.V481I COADREAD 1 248039771 248039771 + Missense_Mutation SNP G G A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr1:248039771G>A c.1441G>A c.(1441-1443)Gta>Ata p.V481I ESCA 1 248039251 248039251 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr1:248039251C>T c.921C>T c.(919-921)acC>acT p.T307T ESCA 1 248039573 248039573 + Silent SNP T T C TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr1:248039573T>C c.1243T>C c.(1243-1245)Ttg>Ctg p.L415L ESCA 1 248039702 248039702 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr1:248039702T>G c.1372T>G c.(1372-1374)Ttg>Gtg p.L458V ESCA 1 248039702 248039702 + Silent SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr1:248039702T>C c.1372T>C c.(1372-1374)Ttg>Ctg p.L458L ESCA 1 248039764 248039764 + Silent SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr1:248039764T>C c.1434T>C c.(1432-1434)gcT>gcC p.A478A GBM 1 248023987 248023987 + Silent SNP C C T TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chr1:248023987C>T c.489C>T c.(487-489)aaC>aaT p.N163N GBM 1 248028031 248028031 + Missense_Mutation SNP C C T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 g.chr1:248028031C>T c.541C>T c.(541-543)Cgc>Tgc p.R181C GBM 1 248039229 248039229 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 g.chr1:248039229C>T c.899C>T c.(898-900)gCg>gTg p.A300V GBM 1 248039235 248039235 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 g.chr1:248039235C>T c.905C>T c.(904-906)cCg>cTg p.P302L GBMLGG 1 248023987 248023987 + Silent SNP C C T TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chr1:248023987C>T c.489C>T c.(487-489)aaC>aaT p.N163N GBMLGG 1 248028031 248028031 + Missense_Mutation SNP C C T TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 g.chr1:248028031C>T c.541C>T c.(541-543)Cgc>Tgc p.R181C GBMLGG 1 248028031 248028031 + Missense_Mutation SNP C C T TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr1:248028031C>T c.541C>T c.(541-543)Cgc>Tgc p.R181C GBMLGG 1 248028032 248028032 + Missense_Mutation SNP G G A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 g.chr1:248028032G>A c.542G>A c.(541-543)cGc>cAc p.R181H GBMLGG 1 248028032 248028032 + Missense_Mutation SNP G G A TCGA-HT-7467-01A-11D-2024-08 TCGA-HT-7467-10A-01D-2024-08 g.chr1:248028032G>A c.542G>A c.(541-543)cGc>cAc p.R181H GBMLGG 1 248039229 248039229 + Missense_Mutation SNP C C T TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 g.chr1:248039229C>T c.899C>T c.(898-900)gCg>gTg p.A300V GBMLGG 1 248039235 248039235 + Missense_Mutation SNP C C T TCGA-32-1970-01A-01D-1494-08 TCGA-32-1970-10A-01D-1494-08 g.chr1:248039235C>T c.905C>T c.(904-906)cCg>cTg p.P302L GBMLGG 1 248039261 248039261 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 g.chr1:248039261C>T c.931C>T c.(931-933)Cgc>Tgc p.R311C GBMLGG 1 248039310 248039310 + Missense_Mutation SNP A A G TCGA-TM-A7CA-01A-21D-A33T-08 TCGA-TM-A7CA-10A-01D-A33W-08 g.chr1:248039310A>G c.980A>G c.(979-981)gAg>gGg p.E327G GBMLGG 1 248039522 248039522 + Missense_Mutation SNP C C T TCGA-IK-7675-01A-11D-2086-08 TCGA-IK-7675-10A-01D-2086-08 g.chr1:248039522C>T c.1192C>T c.(1192-1194)Cca>Tca p.P398S HNSC 1 248020626 248020626 + Silent SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 g.chr1:248020626G>A c.78G>A c.(76-78)ccG>ccA p.P26P HNSC 1 248020654 248020654 + Missense_Mutation SNP T T A TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr1:248020654T>A c.106T>A c.(106-108)Tgc>Agc p.C36S HNSC 1 248023998 248023998 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 g.chr1:248023998A>G c.500A>G c.(499-501)aAg>aGg p.K167R HNSC 1 248028043 248028043 + Missense_Mutation SNP G G C TCGA-CN-5366-01A-01D-1434-08 TCGA-CN-5366-10A-01D-1434-08 g.chr1:248028043G>C c.553G>C c.(553-555)Gag>Cag p.E185Q HNSC 1 248028102 248028102 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr1:248028102delG c.612delG c.(610-612)ctgfs p.L204fs HNSC 1 248028108 248028108 + Silent SNP G G A TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr1:248028108G>A c.618G>A c.(616-618)gcG>gcA p.A206A HNSC 1 248028119 248028119 + Missense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 g.chr1:248028119C>A c.629C>A c.(628-630)gCg>gAg p.A210E HNSC 1 248028155 248028155 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 g.chr1:248028155T>A c.665T>A c.(664-666)cTg>cAg p.L222Q HNSC 1 248039216 248039216 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr1:248039216G>T c.886G>T c.(886-888)Gat>Tat p.D296Y HNSC 1 248039556 248039556 + Missense_Mutation SNP G G T TCGA-BA-A4IF-01A-11D-A25Y-08 TCGA-BA-A4IF-10A-01D-A25Y-08 g.chr1:248039556G>T c.1226G>T c.(1225-1227)cGc>cTc p.R409L HNSC 1 248039588 248039588 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr1:248039588G>A c.1258G>A c.(1258-1260)Ggt>Agt p.G420S KICH 1 248031300 248031300 + Missense_Mutation SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr1:248031300T>C c.806T>C c.(805-807)aTc>aCc p.I269T KIPAN 1 248031300 248031300 + Missense_Mutation SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr1:248031300T>C c.806T>C c.(805-807)aTc>aCc p.I269T KIPAN 1 248039262 248039262 + Missense_Mutation SNP G G T TCGA-BP-4345-01A-01D-1366-10 TCGA-BP-4345-11A-01D-1366-10 g.chr1:248039262G>T c.932G>T c.(931-933)cGc>cTc p.R311L KIRC 1 248039262 248039262 + Missense_Mutation SNP G G T TCGA-BP-4345-01A-01D-1366-10 TCGA-BP-4345-11A-01D-1366-10 g.chr1:248039262G>T c.932G>T c.(931-933)cGc>cTc p.R311L LGG 1 248028031 248028031 + Missense_Mutation SNP C C T TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr1:248028031C>T c.541C>T c.(541-543)Cgc>Tgc p.R181C LGG 1 248028032 248028032 + Missense_Mutation SNP G G A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 g.chr1:248028032G>A c.542G>A c.(541-543)cGc>cAc p.R181H LGG 1 248028032 248028032 + Missense_Mutation SNP G G A TCGA-HT-7467-01A-11D-2024-08 TCGA-HT-7467-10A-01D-2024-08 g.chr1:248028032G>A c.542G>A c.(541-543)cGc>cAc p.R181H LGG 1 248039261 248039261 + Missense_Mutation SNP C C T TCGA-HT-8104-01A-11D-2395-08 TCGA-HT-8104-10A-01D-2396-08 g.chr1:248039261C>T c.931C>T c.(931-933)Cgc>Tgc p.R311C LGG 1 248039310 248039310 + Missense_Mutation SNP A A G TCGA-TM-A7CA-01A-21D-A33T-08 TCGA-TM-A7CA-10A-01D-A33W-08 g.chr1:248039310A>G c.980A>G c.(979-981)gAg>gGg p.E327G LGG 1 248039522 248039522 + Missense_Mutation SNP C C T TCGA-IK-7675-01A-11D-2086-08 TCGA-IK-7675-10A-01D-2086-08 g.chr1:248039522C>T c.1192C>T c.(1192-1194)Cca>Tca p.P398S LIHC 1 248024000 248024000 + Missense_Mutation SNP A A G TCGA-CC-A7IF-01A-11D-A33K-10 TCGA-CC-A7IF-10A-01D-A33K-10 g.chr1:248024000A>G c.502A>G c.(502-504)Act>Gct p.T168A LIHC 1 248039229 248039229 + Missense_Mutation SNP C C A TCGA-DD-AADN-01A-11D-A40R-10 TCGA-DD-AADN-10A-01D-A40U-10 g.chr1:248039229C>A c.899C>A c.(898-900)gCg>gAg p.A300E LIHC 1 248039390 248039390 + Missense_Mutation SNP G G A TCGA-CC-A3M9-01A-11D-A20W-10 TCGA-CC-A3M9-10A-01D-A20W-10 g.chr1:248039390G>A c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K LIHC 1 248039449 248039449 + Silent SNP C C T TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chr1:248039449C>T c.1119C>T c.(1117-1119)acC>acT p.T373T LUAD 1 248020584 248020584 + Silent SNP G G A TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr1:248020584G>A c.36G>A c.(34-36)gaG>gaA p.E12E LUAD 1 248020656 248020656 + Silent SNP C C T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-11A-01D-2063-08 g.chr1:248020656C>T c.108C>T c.(106-108)tgC>tgT p.C36C LUAD 1 248020678 248020678 + Missense_Mutation SNP T T G TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr1:248020678T>G c.130T>G c.(130-132)Tgc>Ggc p.C44G LUAD 1 248023967 248023967 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:248023967G>T c.469G>T c.(469-471)Gcc>Tcc p.A157S LUAD 1 248028028 248028028 + Nonsense_Mutation SNP C C T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr1:248028028C>T c.538C>T c.(538-540)Cag>Tag p.Q180* LUAD 1 248028072 248028072 + Silent SNP C C A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr1:248028072C>A c.582C>A c.(580-582)gcC>gcA p.A194A LUAD 1 248028073 248028073 + Nonsense_Mutation SNP C C T TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chr1:248028073C>T c.583C>T c.(583-585)Cag>Tag p.Q195* LUAD 1 248028078 248028078 + Silent SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr1:248028078G>A c.588G>A c.(586-588)gaG>gaA p.E196E LUAD 1 248028108 248028108 + Silent SNP G G A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr1:248028108G>A c.618G>A c.(616-618)gcG>gcA p.A206A LUAD 1 248028109 248028109 + Missense_Mutation SNP G G A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr1:248028109G>A c.619G>A c.(619-621)Gag>Aag p.E207K LUAD 1 248028109 248028109 + Nonsense_Mutation SNP G G T TCGA-17-Z050-01A-01W-0747-08 TCGA-17-Z050-11A-01W-0747-08 g.chr1:248028109G>T c.619G>T c.(619-621)Gag>Tag p.E207* LUAD 1 248028134 248028134 + Missense_Mutation SNP T T C TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr1:248028134T>C c.644T>C c.(643-645)cTg>cCg p.L215P LUAD 1 248028147 248028147 + Missense_Mutation SNP G G T TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr1:248028147G>T c.657G>T c.(655-657)aaG>aaT p.K219N LUAD 1 248028155 248028155 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chr1:248028155T>C c.665T>C c.(664-666)cTg>cCg p.L222P LUAD 1 248028156 248028156 + Silent SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chr1:248028156G>T c.666G>T c.(664-666)ctG>ctT p.L222L LUAD 1 248031146 248031146 + Splice_Site SNP G G T TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr1:248031146G>T c.e4-1 LUAD 1 248031156 248031156 + Missense_Mutation SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr1:248031156G>A c.757G>A c.(757-759)Gga>Aga p.G253R LUAD 1 248031161 248031161 + Silent SNP C C A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr1:248031161C>A c.762C>A c.(760-762)gtC>gtA p.V254V LUAD 1 248031162 248031162 + Missense_Mutation SNP C C A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr1:248031162C>A c.763C>A c.(763-765)Ctg>Atg p.L255M LUAD 1 248031279 248031279 + Missense_Mutation SNP C C A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr1:248031279C>A c.785C>A c.(784-786)aCa>aAa p.T262K LUAD 1 248031333 248031333 + Missense_Mutation SNP C C A TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr1:248031333C>A c.839C>A c.(838-840)cCt>cAt p.P280H LUAD 1 248031334 248031334 + Silent SNP T T A TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr1:248031334T>A c.840T>A c.(838-840)ccT>ccA p.P280P LUAD 1 248039227 248039227 + Silent SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr1:248039227G>T c.897G>T c.(895-897)acG>acT p.T299T LUAD 1 248039252 248039252 + Missense_Mutation SNP G G A TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr1:248039252G>A c.922G>A c.(922-924)Gcc>Acc p.A308T LUAD 1 248039253 248039253 + Missense_Mutation SNP C C A TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr1:248039253C>A c.923C>A c.(922-924)gCc>gAc p.A308D LUAD 1 248039254 248039254 + Silent SNP C C A TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr1:248039254C>A c.924C>A c.(922-924)gcC>gcA p.A308A LUAD 1 248039301 248039301 + Missense_Mutation SNP A A T TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 g.chr1:248039301A>T c.971A>T c.(970-972)aAc>aTc p.N324I LUAD 1 248039358 248039358 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 g.chr1:248039358C>T c.1028C>T c.(1027-1029)tCa>tTa p.S343L LUAD 1 248039374 248039374 + Missense_Mutation SNP G G T TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr1:248039374G>T c.1044G>T c.(1042-1044)tgG>tgT p.W348C LUAD 1 248039386 248039386 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr1:248039386G>T c.1056G>T c.(1054-1056)gtG>gtT p.V352V LUAD 1 248039392 248039392 + Missense_Mutation SNP A A T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 g.chr1:248039392A>T c.1062A>T c.(1060-1062)gaA>gaT p.E354D LUAD 1 248039404 248039404 + Nonsense_Mutation SNP G G A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr1:248039404G>A c.1074G>A c.(1072-1074)tgG>tgA p.W358* LUAD 1 248039411 248039411 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr1:248039411G>A c.1081G>A c.(1081-1083)Ggg>Agg p.G361R LUAD 1 248039439 248039439 + Missense_Mutation SNP A A G TCGA-44-6778-01A-11D-1855-08 TCGA-44-6778-10A-01D-1855-08 g.chr1:248039439A>G c.1109A>G c.(1108-1110)aAg>aGg p.K370R LUAD 1 248039452 248039452 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr1:248039452G>T c.1122G>T c.(1120-1122)acG>acT p.T374T LUAD 1 248039487 248039487 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr1:248039487T>A c.1157T>A c.(1156-1158)cTg>cAg p.L386Q LUAD 1 248039556 248039556 + Missense_Mutation SNP G G T TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr1:248039556G>T c.1226G>T c.(1225-1227)cGc>cTc p.R409L LUAD 1 248039575 248039575 + Missense_Mutation SNP G G C TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 g.chr1:248039575G>C c.1245G>C c.(1243-1245)ttG>ttC p.L415F LUAD 1 248039589 248039589 + Missense_Mutation SNP G G T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr1:248039589G>T c.1259G>T c.(1258-1260)gGt>gTt p.G420V LUAD 1 248039618 248039618 + Nonsense_Mutation SNP G G T TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr1:248039618G>T c.1288G>T c.(1288-1290)Gga>Tga p.G430* LUAD 1 248039632 248039632 + Nonsense_Mutation SNP C C G TCGA-05-5429-01A-01D-1625-08 TCGA-05-5429-10A-01D-1625-08 g.chr1:248039632C>G c.1302C>G c.(1300-1302)taC>taG p.Y434* LUAD 1 248039717 248039717 + Missense_Mutation SNP A A G TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr1:248039717A>G c.1387A>G c.(1387-1389)Ata>Gta p.I463V LUAD 1 248039760 248039760 + Missense_Mutation SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 g.chr1:248039760C>T c.1430C>T c.(1429-1431)cCt>cTt p.P477L LUAD 1 248039777 248039777 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr1:248039777G>T c.1447G>T c.(1447-1449)Gat>Tat p.D483Y LUSC 1 248023976 248023976 + Missense_Mutation SNP C C A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr1:248023976C>A c.478C>A c.(478-480)Cag>Aag p.Q160K LUSC 1 248023988 248023988 + Missense_Mutation SNP G G T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr1:248023988G>T c.490G>T c.(490-492)Gtg>Ttg p.V164L LUSC 1 248028112 248028112 + Nonsense_Mutation SNP G G T TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 g.chr1:248028112G>T c.622G>T c.(622-624)Gag>Tag p.E208* LUSC 1 248028195 248028195 + Missense_Mutation SNP G G T TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr1:248028195G>T c.705G>T c.(703-705)gaG>gaT p.E235D LUSC 1 248028214 248028214 + Missense_Mutation SNP C C G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr1:248028214C>G c.724C>G c.(724-726)Cgc>Ggc p.R242G LUSC 1 248028218 248028218 + Missense_Mutation SNP C C T TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr1:248028218C>T c.728C>T c.(727-729)cCg>cTg p.P243L LUSC 1 248031145 248031145 + Splice_Site SNP A A T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr1:248031145A>T c.e4-1 LUSC 1 248031147 248031147 + Splice_Site SNP G G T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr1:248031147G>T c.748G>T c.(748-750)Ggt>Tgt p.G250C LUSC 1 248031301 248031301 + Silent SNP C C T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr1:248031301C>T c.807C>T c.(805-807)atC>atT p.I269I LUSC 1 248039238 248039238 + Missense_Mutation SNP G G T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr1:248039238G>T c.908G>T c.(907-909)aGt>aTt p.S303I LUSC 1 248039277 248039277 + Missense_Mutation SNP G G C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr1:248039277G>C c.947G>C c.(946-948)gGa>gCa p.G316A LUSC 1 248039289 248039289 + Missense_Mutation SNP G G T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr1:248039289G>T c.959G>T c.(958-960)aGg>aTg p.R320M LUSC 1 248039387 248039387 + Missense_Mutation SNP G G A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr1:248039387G>A c.1057G>A c.(1057-1059)Gga>Aga p.G353R LUSC 1 248039414 248039414 + Missense_Mutation SNP G G T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr1:248039414G>T c.1084G>T c.(1084-1086)Gtc>Ttc p.V362F LUSC 1 248039501 248039501 + Nonsense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr1:248039501G>T c.1171G>T c.(1171-1173)Gag>Tag p.E391* LUSC 1 248039548 248039548 + Missense_Mutation SNP A A C TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 g.chr1:248039548A>C c.1218A>C c.(1216-1218)gaA>gaC p.E406D LUSC 1 248039721 248039721 + Missense_Mutation SNP C C T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr1:248039721C>T c.1391C>T c.(1390-1392)gCa>gTa p.A464V OV 1 248039433 248039433 + Missense_Mutation SNP C C A TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 g.chr1:248039433C>A c.1103C>A c.(1102-1104)cCa>cAa p.P368Q OV 1 248039460 248039460 + Missense_Mutation SNP C C T TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 g.chr1:248039460C>T c.1130C>T c.(1129-1131)cCt>cTt p.P377L OV 1 248039704 248039704 + Silent SNP G G A TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 g.chr1:248039704G>A c.1374G>A c.(1372-1374)ttG>ttA p.L458L OV 1 248039774 248039774 + Missense_Mutation SNP A A G TCGA-36-1569-01A-01W-0615-10 TCGA-36-1569-10A-01W-0615-10 g.chr1:248039774A>G c.1444A>G c.(1444-1446)Aga>Gga p.R482G PAAD 1 248023988 248023988 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 g.chr1:248023988G>A c.490G>A c.(490-492)Gtg>Atg p.V164M PAAD 1 248028136 248028136 + Missense_Mutation SNP C C T TCGA-IB-A6UG-01A-32D-A33T-08 TCGA-IB-A6UG-10A-01D-A33W-08 g.chr1:248028136C>T c.646C>T c.(646-648)Cgg>Tgg p.R216W PAAD 1 248031265 248031265 + Splice_Site SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:248031265A>C c.771A>C c.(769-771)agA>agC p.R257S PRAD 1 248039230 248039230 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:248039230G>A c.900G>A c.(898-900)gcG>gcA p.A300A READ 1 248023999 248023999 + Missense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:248023999G>T c.501G>T c.(499-501)aaG>aaT p.K167N READ 1 248028063 248028063 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:248028063C>A c.573C>A c.(571-573)ggC>ggA p.G191G READ 1 248031152 248031152 + Silent SNP G G C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr1:248031152G>C c.753G>C c.(751-753)gtG>gtC p.V251V SARC 1 248020718 248020718 + Missense_Mutation SNP G G C TCGA-3B-A9HU-01A-11D-A38Z-09 TCGA-3B-A9HU-10A-01D-A38Z-09 g.chr1:248020718G>C c.170G>C c.(169-171)tGt>tCt p.C57S SARC 1 248023942 248023942 + Silent SNP A A G TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr1:248023942A>G c.444A>G c.(442-444)gaA>gaG p.E148E SARC 1 248039664 248039664 + Missense_Mutation SNP G G T TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 g.chr1:248039664G>T c.1334G>T c.(1333-1335)cGg>cTg p.R445L SKCM 1 248023996 248023996 + Missense_Mutation SNP A A C TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr1:248023996A>C c.498A>C c.(496-498)aaA>aaC p.K166N SKCM 1 248028006 248028006 + Splice_Site SNP G G A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr1:248028006G>A c.e3-1 SKCM 1 248028016 248028016 + Missense_Mutation SNP G G A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr1:248028016G>A c.526G>A c.(526-528)Gaa>Aaa p.E176K SKCM 1 248028152 248028152 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr1:248028152G>A c.662G>A c.(661-663)cGg>cAg p.R221Q SKCM 1 248028153 248028153 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr1:248028153G>A c.663G>A c.(661-663)cgG>cgA p.R221R SKCM 1 248031151 248031151 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr1:248031151T>G c.752T>G c.(751-753)gTg>gGg p.V251G SKCM 1 248031355 248031355 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:248031355G>A c.861G>A c.(859-861)agG>agA p.R287R SKCM 1 248031359 248031359 + Missense_Mutation SNP T T C TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr1:248031359T>C c.865T>C c.(865-867)Ttc>Ctc p.F289L SKCM 1 248039236 248039236 + Silent SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr1:248039236G>A c.906G>A c.(904-906)ccG>ccA p.P302P SKCM 1 248039273 248039273 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:248039273G>A c.943G>A c.(943-945)Gat>Aat p.D315N SKCM 1 248039286 248039286 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:248039286G>A c.956G>A c.(955-957)tGg>tAg p.W319* SKCM 1 248039287 248039287 + Nonsense_Mutation SNP G G A TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr1:248039287G>A c.957G>A c.(955-957)tgG>tgA p.W319* SKCM 1 248039313 248039313 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr1:248039313G>A c.983G>A c.(982-984)cGa>cAa p.R328Q SKCM 1 248039313 248039313 + Missense_Mutation SNP G G A TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr1:248039313G>A c.983G>A c.(982-984)cGa>cAa p.R328Q SKCM 1 248039313 248039313 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:248039313G>A c.983G>A c.(982-984)cGa>cAa p.R328Q SKCM 1 248039361 248039361 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr1:248039361G>A c.1031G>A c.(1030-1032)gGg>gAg p.G344E SKCM 1 248039388 248039388 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:248039388G>A c.1058G>A c.(1057-1059)gGa>gAa p.G353E SKCM 1 248039405 248039405 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:248039405G>A c.1075G>A c.(1075-1077)Ggt>Agt p.G359S SKCM 1 248039441 248039441 + Missense_Mutation SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr1:248039441G>A c.1111G>A c.(1111-1113)Ggg>Agg p.G371R SKCM 1 248039441 248039441 + Missense_Mutation SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr1:248039441G>A c.1111G>A c.(1111-1113)Ggg>Agg p.G371R SKCM 1 248039444 248039444 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:248039444G>A c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K SKCM 1 248039459 248039459 + Missense_Mutation SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr1:248039459C>T c.1129C>T c.(1129-1131)Cct>Tct p.P377S SKCM 1 248039598 248039598 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr1:248039598C>T c.1268C>T c.(1267-1269)tCa>tTa p.S423L SKCM 1 248039677 248039677 + Silent SNP C C T TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr1:248039677C>T c.1347C>T c.(1345-1347)ttC>ttT p.F449F SKCM 1 248039677 248039677 + Silent SNP C C T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 g.chr1:248039677C>T c.1347C>T c.(1345-1347)ttC>ttT p.F449F SKCM 1 248039696 248039696 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr1:248039696C>T c.1366C>T c.(1366-1368)Ctt>Ttt p.L456F SKCM 1 248039742 248039742 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:248039742C>T c.1412C>T c.(1411-1413)tCc>tTc p.S471F SKCM 1 248039742 248039742 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:248039742C>T c.1412C>T c.(1411-1413)tCc>tTc p.S471F SKCM 1 248039759 248039759 + Missense_Mutation SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr1:248039759C>T c.1429C>T c.(1429-1431)Cct>Tct p.P477S SKCM 1 248039768 248039768 + Missense_Mutation SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr1:248039768G>A c.1438G>A c.(1438-1440)Gat>Aat p.D480N SKCM 1 248039784 248039784 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr1:248039784A>T c.1454A>T c.(1453-1455)cAt>cTt p.H485L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 248020677 248020677 single base substitution C T synonymous_variant F43F 129C>T BLCA-US 1 248023982 248023982 single base substitution G A missense_variant A162T 484G>A BLCA-US 1 248028105 248028105 single base substitution G A synonymous_variant E205E 615G>A BLCA-US 1 248039263 248039263 single base substitution C T synonymous_variant R311R 933C>T BLCA-US 1 248039733 248039733 single base substitution A G missense_variant N468S 1403A>G BOCA-FR 1 248035062 248035063 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant BOCA-FR 1 248040978 248040978 single base substitution T G 3_prime_UTR_variant BOCA-FR 1 248041228 248041228 single base substitution C T 3_prime_UTR_variant BOCA-FR 1 248046344 248046344 single base substitution A C downstream_gene_variant BRCA-EU 1 248015538 248015538 single base substitution A T upstream_gene_variant BRCA-EU 1 248015849 248015849 single base substitution C T upstream_gene_variant BRCA-EU 1 248015946 248015946 single base substitution G C upstream_gene_variant BRCA-EU 1 248016531 248016531 single base substitution T C upstream_gene_variant BRCA-EU 1 248016650 248016650 single base substitution G T upstream_gene_variant BRCA-EU 1 248017015 248017015 single base substitution A G upstream_gene_variant BRCA-EU 1 248017050 248017050 single base substitution G T upstream_gene_variant BRCA-EU 1 248017154 248017154 single base substitution C T upstream_gene_variant BRCA-EU 1 248017738 248017759 deletion of <=200bp TTAGTATGTGTGGAGTGTCCAT - upstream_gene_variant BRCA-EU 1 248018008 248018008 single base substitution T C upstream_gene_variant BRCA-EU 1 248018397 248018397 single base substitution C T upstream_gene_variant BRCA-EU 1 248018825 248018825 single base substitution G A upstream_gene_variant BRCA-EU 1 248018914 248018914 single base substitution A T upstream_gene_variant BRCA-EU 1 248019348 248019348 single base substitution C G upstream_gene_variant BRCA-EU 1 248020748 248020748 single base substitution C T missense_variant S67L 200C>T BRCA-EU 1 248021157 248021157 single base substitution C T intron_variant BRCA-EU 1 248022087 248022087 single base substitution G A intron_variant BRCA-EU 1 248022761 248022761 single base substitution A G intron_variant BRCA-EU 1 248022935 248022935 single base substitution A G intron_variant BRCA-EU 1 248023164 248023164 single base substitution C T intron_variant BRCA-EU 1 248023550 248023570 deletion of <=200bp GAGGCCAGCAGTTTGACACCA - intron_variant BRCA-EU 1 248023677 248023677 single base substitution C A intron_variant BRCA-EU 1 248024604 248024604 single base substitution C T intron_variant BRCA-EU 1 248024824 248024824 single base substitution G A intron_variant BRCA-EU 1 248024833 248024833 single base substitution C G intron_variant BRCA-EU 1 248025455 248025455 single base substitution G C intron_variant BRCA-EU 1 248026308 248026308 single base substitution C A intron_variant BRCA-EU 1 248026620 248026620 single base substitution T A intron_variant BRCA-EU 1 248026666 248026666 single base substitution C A intron_variant BRCA-EU 1 248026673 248026673 single base substitution C G intron_variant BRCA-EU 1 248026840 248026840 insertion of <=200bp - A intron_variant BRCA-EU 1 248026904 248026904 single base substitution C A intron_variant BRCA-EU 1 248027046 248027046 single base substitution C A intron_variant BRCA-EU 1 248027773 248027773 single base substitution T A intron_variant BRCA-EU 1 248027780 248027780 single base substitution A G intron_variant BRCA-EU 1 248028004 248028004 single base substitution C T splice_region_variant BRCA-EU 1 248029310 248029310 single base substitution A G intron_variant BRCA-EU 1 248029479 248029479 insertion of <=200bp - T intron_variant BRCA-EU 1 248029794 248029794 single base substitution C T intron_variant BRCA-EU 1 248030131 248030131 single base substitution T A intron_variant BRCA-EU 1 248030350 248030350 single base substitution T G intron_variant BRCA-EU 1 248030762 248030762 single base substitution G T intron_variant BRCA-EU 1 248031134 248031134 single base substitution C G intron_variant BRCA-EU 1 248031311 248031311 single base substitution C A missense_variant L273M 817C>A BRCA-EU 1 248032762 248032762 single base substitution C T intron_variant BRCA-EU 1 248032843 248032843 single base substitution T C intron_variant BRCA-EU 1 248033425 248033425 single base substitution C T intron_variant BRCA-EU 1 248033770 248033770 single base substitution C G intron_variant BRCA-EU 1 248033778 248033778 single base substitution G C intron_variant BRCA-EU 1 248033793 248033793 single base substitution C A intron_variant BRCA-EU 1 248034940 248034940 single base substitution G A intron_variant BRCA-EU 1 248037249 248037249 single base substitution C T intron_variant BRCA-EU 1 248037583 248037583 single base substitution G A intron_variant BRCA-EU 1 248037788 248037788 single base substitution G T intron_variant BRCA-EU 1 248037799 248037799 single base substitution C A intron_variant BRCA-EU 1 248038459 248038459 single base substitution C G intron_variant BRCA-EU 1 248038865 248038866 deletion of <=200bp CA - intron_variant BRCA-EU 1 248038948 248038948 insertion of <=200bp - T intron_variant BRCA-EU 1 248039378 248039378 single base substitution G C missense_variant V350L 1048G>C BRCA-EU 1 248039462 248039462 single base substitution G A missense_variant E378K 1132G>A BRCA-EU 1 248039664 248039664 single base substitution G A missense_variant R445Q 1334G>A BRCA-EU 1 248039898 248039898 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 248040468 248040468 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 248041255 248041255 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 248041261 248041261 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 248041264 248041264 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 248041580 248041580 single base substitution T C downstream_gene_variant BRCA-EU 1 248042254 248042254 single base substitution G T downstream_gene_variant BRCA-EU 1 248042317 248042317 single base substitution G A downstream_gene_variant BRCA-EU 1 248042443 248042443 single base substitution C T downstream_gene_variant BRCA-EU 1 248042602 248042602 single base substitution G T downstream_gene_variant BRCA-EU 1 248043093 248043093 single base substitution C A downstream_gene_variant BRCA-EU 1 248043344 248043344 single base substitution A G downstream_gene_variant BRCA-EU 1 248044933 248044933 single base substitution C G downstream_gene_variant BRCA-EU 1 248045196 248045196 single base substitution C G downstream_gene_variant BRCA-EU 1 248045674 248045674 single base substitution G T downstream_gene_variant BRCA-FR 1 248015849 248015849 single base substitution C T upstream_gene_variant BRCA-FR 1 248015946 248015946 single base substitution G C upstream_gene_variant BRCA-FR 1 248016606 248016606 single base substitution T C upstream_gene_variant BRCA-FR 1 248017154 248017154 single base substitution C T upstream_gene_variant BRCA-FR 1 248022761 248022761 single base substitution A G intron_variant BRCA-FR 1 248024824 248024824 single base substitution G A intron_variant BRCA-FR 1 248025455 248025455 single base substitution G C intron_variant BRCA-FR 1 248026308 248026308 single base substitution C A intron_variant BRCA-FR 1 248026425 248026425 single base substitution G C intron_variant BRCA-FR 1 248027780 248027780 single base substitution A G intron_variant BRCA-FR 1 248028004 248028004 single base substitution C T splice_region_variant BRCA-FR 1 248039462 248039462 single base substitution G A missense_variant E378K 1132G>A BRCA-FR 1 248039898 248039898 single base substitution G C 3_prime_UTR_variant BRCA-FR 1 248040468 248040468 single base substitution G A 3_prime_UTR_variant BRCA-FR 1 248043093 248043093 single base substitution C A downstream_gene_variant BRCA-FR 1 248045674 248045674 single base substitution G T downstream_gene_variant BRCA-KR 1 248039704 248039704 single base substitution G T missense_variant L458F 1374G>T BRCA-UK 1 248022105 248022105 single base substitution C T intron_variant BRCA-UK 1 248027016 248027016 single base substitution C T intron_variant BRCA-UK 1 248033616 248033616 single base substitution C T intron_variant BRCA-UK 1 248039670 248039670 single base substitution A C missense_variant Y447S 1340A>C BRCA-UK 1 248042443 248042443 single base substitution C T downstream_gene_variant BRCA-US 1 248028177 248028177 single base substitution G A synonymous_variant L229L 687G>A BRCA-US 1 248039226 248039226 single base substitution C T missense_variant T299M 896C>T BRCA-US 1 248039236 248039236 single base substitution G A synonymous_variant P302P 906G>A BRCA-US 1 248039402 248039402 single base substitution T G missense_variant W358G 1072T>G BRCA-US 1 248039412 248039412 single base substitution G A missense_variant G361E 1082G>A BRCA-US 1 248039569 248039569 single base substitution T G missense_variant I413M 1239T>G BTCA-JP 1 248020827 248020827 single base substitution G A synonymous_variant A93A 279G>A BTCA-JP 1 248020878 248020878 single base substitution C T synonymous_variant D110D 330C>T BTCA-JP 1 248023955 248023955 single base substitution G T stop_gained E153* 457G>T BTCA-JP 1 248039196 248039196 single base substitution C G intron_variant BTCA-JP 1 248039254 248039254 single base substitution C T synonymous_variant A308A 924C>T BTCA-JP 1 248039666 248039666 single base substitution C T missense_variant P446S 1336C>T BTCA-JP 1 248039903 248039903 single base substitution G A 3_prime_UTR_variant CESC-US 1 248039396 248039396 single base substitution G T missense_variant A356S 1066G>T CESC-US 1 248039699 248039699 single base substitution A T missense_variant I457F 1369A>T CESC-US 1 248039700 248039700 single base substitution T C missense_variant I457T 1370T>C CLLE-ES 1 248018021 248018021 single base substitution G A upstream_gene_variant CLLE-ES 1 248021901 248021901 single base substitution C T intron_variant CLLE-ES 1 248023564 248023564 single base substitution G T intron_variant CLLE-ES 1 248039360 248039360 single base substitution G T missense_variant G344W 1030G>T CLLE-ES 1 248043031 248043031 single base substitution C T downstream_gene_variant CLLE-ES 1 248043491 248043491 single base substitution A T downstream_gene_variant CLLE-ES 1 248045995 248045995 single base substitution A C downstream_gene_variant COAD-US 1 248020556 248020556 single base substitution G C missense_variant W3S 8G>C COAD-US 1 248020672 248020672 single base substitution G A missense_variant E42K 124G>A COAD-US 1 248020704 248020704 single base substitution C T synonymous_variant G52G 156C>T COAD-US 1 248020714 248020714 single base substitution G A missense_variant A56T 166G>A COAD-US 1 248023966 248023966 single base substitution C T synonymous_variant D156D 468C>T COAD-US 1 248028219 248028219 single base substitution G A synonymous_variant P243P 729G>A COAD-US 1 248031320 248031320 single base substitution G A missense_variant A276T 826G>A COAD-US 1 248039416 248039416 single base substitution C A synonymous_variant V362V 1086C>A COAD-US 1 248039448 248039448 single base substitution C T missense_variant T373I 1118C>T COAD-US 1 248039451 248039451 single base substitution C T missense_variant T374M 1121C>T COAD-US 1 248039742 248039742 single base substitution C A missense_variant S471Y 1412C>A COCA-CN 1 248023987 248023987 single base substitution C T synonymous_variant N163N 489C>T COCA-CN 1 248024073 248024073 single base substitution A C intron_variant COCA-CN 1 248028120 248028120 single base substitution G A synonymous_variant A210A 630G>A COCA-CN 1 248028175 248028175 single base substitution C T synonymous_variant L229L 685C>T COCA-CN 1 248033718 248033718 single base substitution C T intron_variant COCA-CN 1 248033944 248033944 single base substitution G A intron_variant COCA-CN 1 248034300 248034300 single base substitution A G intron_variant EOPC-DE 1 248023868 248023868 single base substitution C T intron_variant ESAD-UK 1 248015725 248015725 single base substitution G C upstream_gene_variant ESAD-UK 1 248016692 248016692 single base substitution A T upstream_gene_variant ESAD-UK 1 248016714 248016714 single base substitution A G upstream_gene_variant ESAD-UK 1 248016796 248016796 single base substitution A G upstream_gene_variant ESAD-UK 1 248016897 248016897 single base substitution C A upstream_gene_variant ESAD-UK 1 248016915 248016915 single base substitution G T upstream_gene_variant ESAD-UK 1 248016920 248016920 single base substitution C T upstream_gene_variant ESAD-UK 1 248016992 248016992 single base substitution A C upstream_gene_variant ESAD-UK 1 248017033 248017033 single base substitution T G upstream_gene_variant ESAD-UK 1 248017369 248017369 single base substitution A C upstream_gene_variant ESAD-UK 1 248017590 248017590 single base substitution G C upstream_gene_variant ESAD-UK 1 248017800 248017800 single base substitution C A upstream_gene_variant ESAD-UK 1 248017950 248017950 single base substitution A C upstream_gene_variant ESAD-UK 1 248018677 248018677 single base substitution G A upstream_gene_variant ESAD-UK 1 248018753 248018753 single base substitution C T upstream_gene_variant ESAD-UK 1 248018833 248018833 single base substitution C T upstream_gene_variant ESAD-UK 1 248019209 248019209 single base substitution G A upstream_gene_variant ESAD-UK 1 248019746 248019746 single base substitution A G upstream_gene_variant ESAD-UK 1 248019927 248019927 single base substitution C T upstream_gene_variant ESAD-UK 1 248019956 248019956 single base substitution G A upstream_gene_variant ESAD-UK 1 248020104 248020104 single base substitution C T upstream_gene_variant ESAD-UK 1 248020243 248020243 single base substitution A T upstream_gene_variant ESAD-UK 1 248020753 248020753 single base substitution T G missense_variant F69V 205T>G ESAD-UK 1 248021021 248021021 single base substitution C T intron_variant ESAD-UK 1 248021041 248021041 single base substitution G A intron_variant ESAD-UK 1 248021329 248021329 single base substitution C T intron_variant ESAD-UK 1 248021598 248021598 single base substitution C T intron_variant ESAD-UK 1 248021818 248021818 single base substitution G A intron_variant ESAD-UK 1 248022085 248022085 single base substitution C T intron_variant ESAD-UK 1 248022116 248022116 single base substitution G T intron_variant ESAD-UK 1 248022285 248022285 single base substitution T C intron_variant ESAD-UK 1 248022471 248022471 single base substitution A C intron_variant ESAD-UK 1 248022530 248022530 single base substitution A C intron_variant ESAD-UK 1 248022601 248022601 single base substitution T C intron_variant ESAD-UK 1 248023247 248023247 insertion of <=200bp - T intron_variant ESAD-UK 1 248023248 248023248 insertion of <=200bp - T intron_variant ESAD-UK 1 248023250 248023250 single base substitution T G intron_variant ESAD-UK 1 248023394 248023394 single base substitution T C intron_variant ESAD-UK 1 248023582 248023582 single base substitution A G intron_variant ESAD-UK 1 248023639 248023639 single base substitution T C intron_variant ESAD-UK 1 248023764 248023764 single base substitution A C intron_variant ESAD-UK 1 248023766 248023766 single base substitution T G intron_variant ESAD-UK 1 248023944 248023944 single base substitution T G missense_variant L149R 446T>G ESAD-UK 1 248024379 248024379 single base substitution A C intron_variant ESAD-UK 1 248025339 248025339 single base substitution A G intron_variant ESAD-UK 1 248025610 248025610 single base substitution T A intron_variant ESAD-UK 1 248025610 248025610 single base substitution T G intron_variant ESAD-UK 1 248026148 248026148 single base substitution C A intron_variant ESAD-UK 1 248026326 248026326 single base substitution C A intron_variant ESAD-UK 1 248026851 248026851 single base substitution T A intron_variant ESAD-UK 1 248027291 248027291 single base substitution T G intron_variant ESAD-UK 1 248027430 248027430 single base substitution A C intron_variant ESAD-UK 1 248027462 248027462 single base substitution T A intron_variant ESAD-UK 1 248027495 248027495 single base substitution G T intron_variant ESAD-UK 1 248028406 248028406 single base substitution T C intron_variant ESAD-UK 1 248028618 248028618 single base substitution A T intron_variant ESAD-UK 1 248028660 248028660 single base substitution A G intron_variant ESAD-UK 1 248028938 248028938 single base substitution T G intron_variant ESAD-UK 1 248029307 248029307 single base substitution T C intron_variant ESAD-UK 1 248029389 248029389 single base substitution C A intron_variant ESAD-UK 1 248029484 248029484 insertion of <=200bp - T intron_variant ESAD-UK 1 248029734 248029734 single base substitution T G intron_variant ESAD-UK 1 248030081 248030081 single base substitution A C intron_variant ESAD-UK 1 248030259 248030259 single base substitution T C intron_variant ESAD-UK 1 248030898 248030898 single base substitution T A intron_variant ESAD-UK 1 248031135 248031135 single base substitution T C intron_variant ESAD-UK 1 248031284 248031284 single base substitution C A missense_variant L264M 790C>A ESAD-UK 1 248031527 248031527 single base substitution T G intron_variant ESAD-UK 1 248031622 248031622 single base substitution A T intron_variant ESAD-UK 1 248031651 248031651 single base substitution T C intron_variant ESAD-UK 1 248031922 248031922 single base substitution A G intron_variant ESAD-UK 1 248032024 248032024 single base substitution T G intron_variant ESAD-UK 1 248032047 248032047 single base substitution T A intron_variant ESAD-UK 1 248032339 248032339 single base substitution T A intron_variant ESAD-UK 1 248032427 248032427 single base substitution C A intron_variant ESAD-UK 1 248032819 248032819 single base substitution A G intron_variant ESAD-UK 1 248033042 248033042 single base substitution G A intron_variant ESAD-UK 1 248033165 248033165 single base substitution A C intron_variant ESAD-UK 1 248033379 248033379 single base substitution C A intron_variant ESAD-UK 1 248033384 248033384 single base substitution T G intron_variant ESAD-UK 1 248033435 248033435 single base substitution A C intron_variant ESAD-UK 1 248033544 248033544 single base substitution C A intron_variant ESAD-UK 1 248034899 248034899 single base substitution G T intron_variant ESAD-UK 1 248035051 248035051 single base substitution T G intron_variant ESAD-UK 1 248035302 248035302 single base substitution A C intron_variant ESAD-UK 1 248035663 248035663 single base substitution C T intron_variant ESAD-UK 1 248036461 248036461 single base substitution G T intron_variant ESAD-UK 1 248036533 248036533 deletion of <=200bp A - intron_variant ESAD-UK 1 248036571 248036571 single base substitution C T intron_variant ESAD-UK 1 248036980 248036980 single base substitution A T intron_variant ESAD-UK 1 248037654 248037654 single base substitution T C intron_variant ESAD-UK 1 248038004 248038004 single base substitution T G intron_variant ESAD-UK 1 248038775 248038775 single base substitution T C intron_variant ESAD-UK 1 248039256 248039256 single base substitution A T missense_variant D309V 926A>T ESAD-UK 1 248039351 248039351 single base substitution T C missense_variant F341L 1021T>C ESAD-UK 1 248039414 248039414 single base substitution G A missense_variant V362I 1084G>A ESAD-UK 1 248039654 248039654 single base substitution G T missense_variant G442C 1324G>T ESAD-UK 1 248039864 248039864 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 248040031 248040031 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 248040139 248040139 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 248040646 248040646 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 248040852 248040852 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 248040874 248040874 single base substitution C G 3_prime_UTR_variant ESAD-UK 1 248041484 248041484 insertion of <=200bp - AATG 3_prime_UTR_variant ESAD-UK 1 248041827 248041827 single base substitution G T downstream_gene_variant ESAD-UK 1 248041871 248041871 single base substitution T C downstream_gene_variant ESAD-UK 1 248042063 248042063 single base substitution T A downstream_gene_variant ESAD-UK 1 248042181 248042181 single base substitution C T downstream_gene_variant ESAD-UK 1 248042316 248042316 single base substitution C T downstream_gene_variant ESAD-UK 1 248042419 248042419 single base substitution T C downstream_gene_variant ESAD-UK 1 248042419 248042419 single base substitution T G downstream_gene_variant ESAD-UK 1 248042590 248042590 single base substitution G T downstream_gene_variant ESAD-UK 1 248043330 248043330 single base substitution A G downstream_gene_variant ESAD-UK 1 248043404 248043404 single base substitution T G downstream_gene_variant ESAD-UK 1 248043509 248043509 single base substitution C T downstream_gene_variant ESAD-UK 1 248043879 248043879 single base substitution T A downstream_gene_variant ESAD-UK 1 248044018 248044018 single base substitution A G downstream_gene_variant ESAD-UK 1 248044020 248044020 single base substitution T G downstream_gene_variant ESAD-UK 1 248044380 248044380 single base substitution A T downstream_gene_variant ESAD-UK 1 248044614 248044614 single base substitution A C downstream_gene_variant ESAD-UK 1 248044811 248044811 single base substitution A C downstream_gene_variant ESAD-UK 1 248044811 248044811 single base substitution A G downstream_gene_variant ESAD-UK 1 248045604 248045604 single base substitution G C downstream_gene_variant ESAD-UK 1 248045874 248045874 single base substitution G A downstream_gene_variant ESAD-UK 1 248045874 248045874 single base substitution G T downstream_gene_variant ESAD-UK 1 248045915 248045915 single base substitution A T downstream_gene_variant ESAD-UK 1 248045921 248045921 single base substitution G A downstream_gene_variant ESAD-UK 1 248046360 248046360 single base substitution C T downstream_gene_variant ESAD-UK 1 248046416 248046416 single base substitution G T downstream_gene_variant ESCA-CN 1 248024073 248024073 single base substitution A C intron_variant ESCA-CN 1 248024081 248024081 single base substitution T G intron_variant GBM-US 1 248023987 248023987 single base substitution C T synonymous_variant N163N 489C>T GBM-US 1 248028031 248028031 single base substitution C T missense_variant R181C 541C>T GBM-US 1 248039229 248039229 single base substitution C T missense_variant A300V 899C>T GBM-US 1 248039235 248039235 single base substitution C T missense_variant P302L 905C>T KIRC-US 1 248039262 248039262 single base substitution G T missense_variant R311L 932G>T KIRC-US 1 248039771 248039771 single base substitution G C missense_variant V481L 1441G>C LAML-KR 1 248033643 248033643 single base substitution T C intron_variant LAML-KR 1 248033644 248033644 single base substitution G A intron_variant LAML-KR 1 248033655 248033655 single base substitution C T intron_variant LAML-KR 1 248033719 248033719 single base substitution G A intron_variant LAML-KR 1 248034291 248034291 single base substitution C T intron_variant LGG-US 1 248028031 248028031 single base substitution C T missense_variant R181C 541C>T LGG-US 1 248028032 248028032 single base substitution G A missense_variant R181H 542G>A LGG-US 1 248039522 248039522 single base substitution C T missense_variant P398S 1192C>T LICA-CN 1 248028136 248028136 single base substitution C A synonymous_variant R216R 646C>A LICA-CN 1 248028185 248028185 single base substitution T C missense_variant L232P 695T>C LICA-CN 1 248039772 248039772 single base substitution T C missense_variant V481A 1442T>C LICA-FR 1 248020114 248020114 single base substitution C T upstream_gene_variant LICA-FR 1 248020603 248020603 single base substitution T C missense_variant C19R 55T>C LICA-FR 1 248020625 248020625 single base substitution C A missense_variant P26Q 77C>A LICA-FR 1 248020695 248020695 single base substitution C T synonymous_variant G49G 147C>T LICA-FR 1 248020737 248020737 single base substitution C T synonymous_variant P63P 189C>T LICA-FR 1 248028216 248028216 single base substitution C T synonymous_variant R242R 726C>T LICA-FR 1 248033678 248033678 single base substitution A C intron_variant LICA-FR 1 248033692 248033692 single base substitution G A intron_variant LICA-FR 1 248033767 248033767 single base substitution G A intron_variant LICA-FR 1 248033776 248033776 single base substitution T C intron_variant LICA-FR 1 248033842 248033842 single base substitution G A intron_variant LICA-FR 1 248033869 248033869 single base substitution G A intron_variant LICA-FR 1 248033943 248033943 single base substitution C T intron_variant LICA-FR 1 248033978 248033978 single base substitution A C intron_variant LICA-FR 1 248034075 248034075 single base substitution G A intron_variant LICA-FR 1 248034225 248034225 single base substitution A G intron_variant LICA-FR 1 248034226 248034226 single base substitution T G intron_variant LICA-FR 1 248039531 248039531 single base substitution C T missense_variant P401S 1201C>T LICA-FR 1 248042198 248042198 single base substitution A G downstream_gene_variant LIHC-US 1 248020828 248020828 single base substitution C T missense_variant R94W 280C>T LIHC-US 1 248024000 248024000 single base substitution A G missense_variant T168A 502A>G LIHC-US 1 248039390 248039390 single base substitution G A missense_variant E354K 1060G>A LINC-JP 1 248020599 248020599 single base substitution G T synonymous_variant P17P 51G>T LINC-JP 1 248024929 248024929 single base substitution C T intron_variant LINC-JP 1 248025070 248025070 single base substitution A G intron_variant LINC-JP 1 248025854 248025854 deletion of <=200bp T - intron_variant LINC-JP 1 248031338 248031338 single base substitution A T missense_variant R282W 844A>T LINC-JP 1 248032363 248032363 single base substitution G T intron_variant LINC-JP 1 248039196 248039196 single base substitution C G intron_variant LINC-JP 1 248040202 248040202 single base substitution C G 3_prime_UTR_variant LINC-JP 1 248043377 248043377 single base substitution A T downstream_gene_variant LINC-JP 1 248045221 248045221 single base substitution T C downstream_gene_variant LIRI-JP 1 248015855 248015855 single base substitution G A upstream_gene_variant LIRI-JP 1 248017009 248017009 single base substitution C G upstream_gene_variant LIRI-JP 1 248017075 248017075 single base substitution G A upstream_gene_variant LIRI-JP 1 248017108 248017108 single base substitution G A upstream_gene_variant LIRI-JP 1 248017568 248017568 single base substitution G T upstream_gene_variant LIRI-JP 1 248018180 248018180 single base substitution C G upstream_gene_variant LIRI-JP 1 248018481 248018481 deletion of <=200bp C - upstream_gene_variant LIRI-JP 1 248018980 248018980 single base substitution A T upstream_gene_variant LIRI-JP 1 248019458 248019458 single base substitution A G upstream_gene_variant LIRI-JP 1 248019536 248019536 single base substitution C A upstream_gene_variant LIRI-JP 1 248019551 248019551 single base substitution C A upstream_gene_variant LIRI-JP 1 248021417 248021417 single base substitution G A intron_variant LIRI-JP 1 248021807 248021807 single base substitution C T intron_variant LIRI-JP 1 248022847 248022847 single base substitution C T intron_variant LIRI-JP 1 248023294 248023294 single base substitution G T intron_variant LIRI-JP 1 248023561 248023561 single base substitution T C intron_variant LIRI-JP 1 248023981 248023981 single base substitution G A synonymous_variant E161E 483G>A LIRI-JP 1 248024460 248024460 single base substitution A T intron_variant LIRI-JP 1 248024878 248024878 single base substitution G C intron_variant LIRI-JP 1 248025085 248025085 single base substitution T A intron_variant LIRI-JP 1 248025581 248025581 single base substitution T A intron_variant LIRI-JP 1 248025846 248025846 single base substitution A G intron_variant LIRI-JP 1 248026806 248026806 single base substitution C T intron_variant LIRI-JP 1 248027010 248027010 single base substitution C T intron_variant LIRI-JP 1 248028798 248028798 single base substitution T C intron_variant LIRI-JP 1 248029062 248029062 single base substitution T C intron_variant LIRI-JP 1 248029269 248029269 single base substitution A G intron_variant LIRI-JP 1 248029371 248029371 single base substitution T A intron_variant LIRI-JP 1 248030583 248030583 single base substitution C T intron_variant LIRI-JP 1 248032968 248032968 single base substitution C A intron_variant LIRI-JP 1 248033154 248033154 single base substitution G A intron_variant LIRI-JP 1 248033155 248033155 single base substitution C T intron_variant LIRI-JP 1 248033178 248033178 single base substitution G A intron_variant LIRI-JP 1 248034777 248034777 single base substitution T C intron_variant LIRI-JP 1 248036455 248036455 single base substitution C A intron_variant LIRI-JP 1 248036665 248036665 single base substitution G T intron_variant LIRI-JP 1 248036666 248036666 single base substitution G C intron_variant LIRI-JP 1 248036739 248036739 single base substitution G A intron_variant LIRI-JP 1 248037238 248037238 single base substitution A T intron_variant LIRI-JP 1 248037949 248037949 single base substitution C T intron_variant LIRI-JP 1 248038308 248038308 single base substitution T C intron_variant LIRI-JP 1 248038553 248038553 single base substitution A G intron_variant LIRI-JP 1 248039047 248039047 single base substitution G T intron_variant LIRI-JP 1 248039233 248039233 deletion of <=200bp C - frameshift_variant H301 LIRI-JP 1 248039556 248039556 single base substitution G A missense_variant R409H 1226G>A LIRI-JP 1 248039749 248039749 single base substitution T C synonymous_variant D473D 1419T>C LIRI-JP 1 248040086 248040086 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 248040119 248040119 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 248040135 248040135 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 248040501 248040501 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 248040649 248040649 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 248040976 248040976 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 248043107 248043107 single base substitution T C downstream_gene_variant LIRI-JP 1 248043777 248043777 single base substitution T A downstream_gene_variant LIRI-JP 1 248045232 248045232 single base substitution G C downstream_gene_variant LIRI-JP 1 248045752 248045752 single base substitution A G downstream_gene_variant LIRI-JP 1 248045870 248045870 single base substitution G A downstream_gene_variant LIRI-JP 1 248046162 248046162 single base substitution A T downstream_gene_variant LUSC-CN 1 248039360 248039360 single base substitution G T missense_variant G344W 1030G>T LUSC-KR 1 248016680 248016680 single base substitution C A upstream_gene_variant LUSC-KR 1 248019168 248019168 single base substitution C A upstream_gene_variant LUSC-KR 1 248021660 248021660 single base substitution C T intron_variant LUSC-KR 1 248022887 248022887 single base substitution C T intron_variant LUSC-KR 1 248023505 248023505 single base substitution C A intron_variant LUSC-KR 1 248023506 248023506 single base substitution C A intron_variant LUSC-KR 1 248024014 248024014 single base substitution G T missense_variant K172N 516G>T LUSC-KR 1 248024205 248024205 single base substitution C T intron_variant LUSC-KR 1 248024210 248024210 single base substitution G A intron_variant LUSC-KR 1 248024998 248024998 single base substitution T C intron_variant LUSC-KR 1 248025411 248025411 single base substitution C T intron_variant LUSC-KR 1 248027771 248027771 single base substitution C A intron_variant LUSC-KR 1 248027911 248027911 single base substitution G T intron_variant LUSC-KR 1 248028211 248028211 single base substitution C A missense_variant Q241K 721C>A LUSC-KR 1 248028552 248028552 single base substitution C T intron_variant LUSC-KR 1 248028719 248028719 single base substitution T C intron_variant LUSC-KR 1 248030055 248030055 single base substitution C A intron_variant LUSC-KR 1 248030755 248030755 single base substitution G T intron_variant LUSC-KR 1 248032856 248032856 single base substitution C A intron_variant LUSC-KR 1 248033218 248033218 single base substitution G T intron_variant LUSC-KR 1 248033277 248033277 single base substitution G A intron_variant LUSC-KR 1 248033678 248033678 single base substitution A C intron_variant LUSC-KR 1 248033691 248033691 single base substitution C A intron_variant LUSC-KR 1 248033692 248033692 single base substitution G A intron_variant LUSC-KR 1 248033701 248033701 single base substitution T G intron_variant LUSC-KR 1 248033869 248033869 single base substitution G A intron_variant LUSC-KR 1 248033903 248033903 single base substitution A C intron_variant LUSC-KR 1 248033943 248033943 single base substitution C T intron_variant LUSC-KR 1 248033944 248033944 single base substitution G A intron_variant LUSC-KR 1 248034072 248034072 single base substitution C A intron_variant LUSC-KR 1 248034291 248034291 single base substitution C T intron_variant LUSC-KR 1 248034300 248034300 single base substitution A G intron_variant LUSC-KR 1 248034319 248034319 single base substitution G A intron_variant LUSC-KR 1 248034330 248034330 single base substitution C T intron_variant LUSC-KR 1 248036214 248036214 single base substitution T A intron_variant LUSC-KR 1 248036254 248036254 single base substitution G T intron_variant LUSC-KR 1 248036299 248036299 single base substitution G A intron_variant LUSC-KR 1 248036768 248036768 single base substitution C A intron_variant LUSC-KR 1 248036769 248036769 single base substitution T A intron_variant LUSC-KR 1 248037793 248037793 single base substitution G C intron_variant LUSC-KR 1 248038498 248038498 single base substitution C T intron_variant LUSC-KR 1 248039170 248039170 single base substitution C T intron_variant LUSC-KR 1 248039207 248039207 single base substitution G T missense_variant V293L 877G>T LUSC-KR 1 248039294 248039294 single base substitution G A missense_variant V322I 964G>A LUSC-KR 1 248039713 248039713 single base substitution A G synonymous_variant T461T 1383A>G LUSC-KR 1 248040018 248040018 single base substitution A G 3_prime_UTR_variant LUSC-KR 1 248040104 248040104 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 248041153 248041153 single base substitution G T 3_prime_UTR_variant LUSC-KR 1 248041599 248041599 single base substitution A G downstream_gene_variant LUSC-KR 1 248043496 248043496 single base substitution T C downstream_gene_variant LUSC-KR 1 248043671 248043671 single base substitution G T downstream_gene_variant LUSC-KR 1 248044121 248044121 single base substitution C T downstream_gene_variant LUSC-KR 1 248044576 248044576 single base substitution G T downstream_gene_variant LUSC-KR 1 248044812 248044812 single base substitution G T downstream_gene_variant LUSC-KR 1 248045574 248045574 single base substitution C A downstream_gene_variant LUSC-KR 1 248045995 248045995 single base substitution A T downstream_gene_variant LUSC-US 1 248023976 248023976 single base substitution C A missense_variant Q160K 478C>A LUSC-US 1 248023988 248023988 single base substitution G T missense_variant V164L 490G>T LUSC-US 1 248028112 248028112 single base substitution G T stop_gained E208* 622G>T LUSC-US 1 248028195 248028195 single base substitution G T missense_variant E235D 705G>T LUSC-US 1 248028214 248028214 single base substitution C G missense_variant R242G 724C>G LUSC-US 1 248028218 248028218 single base substitution C T missense_variant P243L 728C>T LUSC-US 1 248031145 248031145 single base substitution A T splice_acceptor_variant LUSC-US 1 248031147 248031147 single base substitution G T missense_variant G250C 748G>T LUSC-US 1 248031301 248031301 single base substitution C T synonymous_variant I269I 807C>T LUSC-US 1 248039238 248039238 single base substitution G T missense_variant S303I 908G>T LUSC-US 1 248039277 248039277 single base substitution G C missense_variant G316A 947G>C LUSC-US 1 248039289 248039289 single base substitution G T missense_variant R320M 959G>T LUSC-US 1 248039387 248039387 single base substitution G A missense_variant G353R 1057G>A LUSC-US 1 248039414 248039414 single base substitution G T missense_variant V362F 1084G>T LUSC-US 1 248039501 248039501 single base substitution G T stop_gained E391* 1171G>T LUSC-US 1 248039548 248039548 single base substitution A C missense_variant E406D 1218A>C LUSC-US 1 248039721 248039721 single base substitution C T missense_variant A464V 1391C>T MALY-DE 1 248016786 248016786 single base substitution A C upstream_gene_variant MALY-DE 1 248017119 248017119 single base substitution G T upstream_gene_variant MALY-DE 1 248018397 248018397 single base substitution C T upstream_gene_variant MALY-DE 1 248018846 248018846 single base substitution C A upstream_gene_variant MALY-DE 1 248019328 248019328 single base substitution C T upstream_gene_variant MALY-DE 1 248021822 248021822 single base substitution T C intron_variant MALY-DE 1 248022783 248022783 single base substitution A T intron_variant MALY-DE 1 248026943 248026943 single base substitution A T intron_variant MALY-DE 1 248030019 248030019 insertion of <=200bp - CTCA intron_variant MALY-DE 1 248032557 248032557 single base substitution A G intron_variant MALY-DE 1 248032615 248032615 deletion of <=200bp G - intron_variant MALY-DE 1 248033267 248033267 deletion of <=200bp T - intron_variant MALY-DE 1 248038139 248038139 single base substitution G A intron_variant MALY-DE 1 248038865 248038866 deletion of <=200bp CA - intron_variant MALY-DE 1 248038956 248038956 single base substitution T G intron_variant MALY-DE 1 248043792 248043792 deletion of <=200bp A - downstream_gene_variant MALY-DE 1 248045326 248045326 single base substitution G A downstream_gene_variant MELA-AU 1 248015569 248015569 single base substitution C T upstream_gene_variant MELA-AU 1 248015570 248015570 single base substitution C T upstream_gene_variant MELA-AU 1 248015602 248015602 single base substitution C T upstream_gene_variant MELA-AU 1 248015951 248015951 single base substitution C T upstream_gene_variant MELA-AU 1 248016315 248016315 single base substitution C T upstream_gene_variant MELA-AU 1 248016383 248016383 single base substitution C T upstream_gene_variant MELA-AU 1 248016398 248016398 single base substitution C T upstream_gene_variant MELA-AU 1 248016410 248016410 single base substitution G A upstream_gene_variant MELA-AU 1 248016547 248016547 single base substitution G A upstream_gene_variant MELA-AU 1 248016577 248016577 single base substitution C T upstream_gene_variant MELA-AU 1 248016610 248016610 single base substitution C T upstream_gene_variant MELA-AU 1 248016641 248016641 single base substitution G A upstream_gene_variant MELA-AU 1 248016660 248016660 single base substitution G A upstream_gene_variant MELA-AU 1 248016691 248016691 single base substitution G A upstream_gene_variant MELA-AU 1 248016713 248016713 single base substitution G A upstream_gene_variant MELA-AU 1 248016721 248016721 single base substitution G A upstream_gene_variant MELA-AU 1 248016794 248016794 single base substitution G A upstream_gene_variant MELA-AU 1 248016841 248016841 single base substitution C T upstream_gene_variant MELA-AU 1 248016877 248016877 single base substitution G A upstream_gene_variant MELA-AU 1 248016895 248016895 single base substitution G A upstream_gene_variant MELA-AU 1 248016902 248016902 single base substitution C T upstream_gene_variant MELA-AU 1 248016998 248016998 single base substitution A G upstream_gene_variant MELA-AU 1 248017155 248017155 single base substitution C T upstream_gene_variant MELA-AU 1 248017211 248017211 single base substitution G A upstream_gene_variant MELA-AU 1 248017264 248017264 single base substitution G A upstream_gene_variant MELA-AU 1 248017294 248017294 single base substitution G A upstream_gene_variant MELA-AU 1 248017299 248017299 single base substitution C T upstream_gene_variant MELA-AU 1 248017364 248017364 single base substitution G A upstream_gene_variant MELA-AU 1 248017463 248017463 single base substitution G A upstream_gene_variant MELA-AU 1 248017668 248017668 single base substitution C T upstream_gene_variant MELA-AU 1 248017830 248017830 single base substitution C T upstream_gene_variant MELA-AU 1 248017865 248017865 single base substitution C T upstream_gene_variant MELA-AU 1 248017882 248017882 single base substitution C T upstream_gene_variant MELA-AU 1 248017887 248017887 single base substitution C T upstream_gene_variant MELA-AU 1 248017896 248017896 single base substitution C T upstream_gene_variant MELA-AU 1 248017974 248017974 single base substitution G A upstream_gene_variant MELA-AU 1 248018192 248018192 single base substitution C T upstream_gene_variant MELA-AU 1 248018429 248018429 single base substitution G A upstream_gene_variant MELA-AU 1 248018441 248018441 single base substitution C T upstream_gene_variant MELA-AU 1 248018460 248018460 single base substitution C T upstream_gene_variant MELA-AU 1 248018799 248018799 single base substitution C T upstream_gene_variant MELA-AU 1 248018825 248018825 single base substitution G A upstream_gene_variant MELA-AU 1 248018841 248018841 single base substitution C T upstream_gene_variant MELA-AU 1 248018864 248018864 single base substitution C T upstream_gene_variant MELA-AU 1 248018923 248018923 single base substitution C G upstream_gene_variant MELA-AU 1 248018954 248018954 single base substitution G A upstream_gene_variant MELA-AU 1 248019021 248019021 single base substitution G A upstream_gene_variant MELA-AU 1 248019061 248019061 single base substitution C T upstream_gene_variant MELA-AU 1 248019142 248019142 single base substitution G A upstream_gene_variant MELA-AU 1 248019157 248019157 single base substitution G A upstream_gene_variant MELA-AU 1 248019181 248019181 single base substitution C T upstream_gene_variant MELA-AU 1 248019197 248019197 single base substitution T G upstream_gene_variant MELA-AU 1 248019319 248019319 single base substitution C T upstream_gene_variant MELA-AU 1 248019387 248019387 single base substitution C T upstream_gene_variant MELA-AU 1 248019937 248019937 single base substitution C T upstream_gene_variant MELA-AU 1 248019969 248019969 single base substitution C T upstream_gene_variant MELA-AU 1 248020091 248020091 single base substitution G A upstream_gene_variant MELA-AU 1 248020104 248020104 single base substitution C T upstream_gene_variant MELA-AU 1 248020116 248020117 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 248020117 248020117 single base substitution G A upstream_gene_variant MELA-AU 1 248020144 248020144 single base substitution C T upstream_gene_variant MELA-AU 1 248020385 248020385 single base substitution T G upstream_gene_variant MELA-AU 1 248020478 248020478 single base substitution C T upstream_gene_variant MELA-AU 1 248020496 248020496 single base substitution G A upstream_gene_variant MELA-AU 1 248020721 248020721 single base substitution C T missense_variant P58L 173C>T MELA-AU 1 248020986 248020987 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 248021013 248021013 single base substitution G A intron_variant MELA-AU 1 248021186 248021186 single base substitution C T intron_variant MELA-AU 1 248021389 248021389 single base substitution T A intron_variant MELA-AU 1 248021537 248021537 single base substitution G A intron_variant MELA-AU 1 248021601 248021601 single base substitution G A intron_variant MELA-AU 1 248021685 248021685 single base substitution C T intron_variant MELA-AU 1 248021889 248021889 single base substitution G A intron_variant MELA-AU 1 248021890 248021890 single base substitution G A intron_variant MELA-AU 1 248021959 248021959 single base substitution G A intron_variant MELA-AU 1 248022108 248022108 single base substitution G A intron_variant MELA-AU 1 248022160 248022160 single base substitution C T intron_variant MELA-AU 1 248022211 248022211 single base substitution G A intron_variant MELA-AU 1 248022305 248022305 single base substitution G A intron_variant MELA-AU 1 248022312 248022312 single base substitution C T intron_variant MELA-AU 1 248022378 248022378 single base substitution T C intron_variant MELA-AU 1 248022382 248022382 single base substitution C T intron_variant MELA-AU 1 248022436 248022436 single base substitution C T intron_variant MELA-AU 1 248022573 248022573 single base substitution G A intron_variant MELA-AU 1 248022662 248022662 single base substitution C T intron_variant MELA-AU 1 248022689 248022689 single base substitution T C intron_variant MELA-AU 1 248022756 248022756 single base substitution G A intron_variant MELA-AU 1 248022761 248022761 single base substitution A C intron_variant MELA-AU 1 248022807 248022807 single base substitution T A intron_variant MELA-AU 1 248022869 248022869 single base substitution G A intron_variant MELA-AU 1 248023039 248023039 single base substitution A G intron_variant MELA-AU 1 248023134 248023134 single base substitution G A intron_variant MELA-AU 1 248023164 248023164 single base substitution C T intron_variant MELA-AU 1 248023336 248023336 single base substitution A T intron_variant MELA-AU 1 248023464 248023464 single base substitution G A intron_variant MELA-AU 1 248023515 248023515 single base substitution C T intron_variant MELA-AU 1 248023529 248023529 single base substitution G A intron_variant MELA-AU 1 248023552 248023552 single base substitution G A intron_variant MELA-AU 1 248023743 248023743 single base substitution G A intron_variant MELA-AU 1 248023794 248023794 single base substitution G A intron_variant MELA-AU 1 248023947 248023947 single base substitution T A missense_variant M150K 449T>A MELA-AU 1 248023951 248023951 single base substitution G A synonymous_variant R151R 453G>A MELA-AU 1 248023960 248023960 single base substitution G A synonymous_variant L154L 462G>A MELA-AU 1 248023993 248023993 single base substitution G A synonymous_variant G165G 495G>A MELA-AU 1 248024038 248024038 single base substitution G A intron_variant MELA-AU 1 248024134 248024134 single base substitution G A intron_variant MELA-AU 1 248024151 248024151 single base substitution C T intron_variant MELA-AU 1 248024377 248024377 single base substitution G A intron_variant MELA-AU 1 248024510 248024510 single base substitution C T intron_variant MELA-AU 1 248024576 248024576 single base substitution C T intron_variant MELA-AU 1 248024822 248024823 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 248024856 248024856 single base substitution C T intron_variant MELA-AU 1 248024910 248024910 single base substitution C T intron_variant MELA-AU 1 248024946 248024946 single base substitution C T intron_variant MELA-AU 1 248024975 248024975 single base substitution C T intron_variant MELA-AU 1 248024979 248024979 single base substitution C T intron_variant MELA-AU 1 248025045 248025045 single base substitution A T intron_variant MELA-AU 1 248025053 248025053 single base substitution T G intron_variant MELA-AU 1 248025098 248025098 single base substitution G A intron_variant MELA-AU 1 248025223 248025223 single base substitution C T intron_variant MELA-AU 1 248025224 248025224 single base substitution G A intron_variant MELA-AU 1 248025244 248025244 single base substitution G A intron_variant MELA-AU 1 248025312 248025312 single base substitution C T intron_variant MELA-AU 1 248025384 248025384 single base substitution C T intron_variant MELA-AU 1 248025443 248025443 single base substitution G A intron_variant MELA-AU 1 248025450 248025450 single base substitution G A intron_variant MELA-AU 1 248025455 248025455 single base substitution G A intron_variant MELA-AU 1 248025496 248025496 single base substitution G A intron_variant MELA-AU 1 248025500 248025500 single base substitution G A intron_variant MELA-AU 1 248025537 248025537 single base substitution A T intron_variant MELA-AU 1 248025619 248025619 single base substitution T A intron_variant MELA-AU 1 248025633 248025633 single base substitution C T intron_variant MELA-AU 1 248025729 248025729 single base substitution G A intron_variant MELA-AU 1 248025788 248025788 single base substitution A T intron_variant MELA-AU 1 248025860 248025860 single base substitution A T intron_variant MELA-AU 1 248026043 248026043 single base substitution G A intron_variant MELA-AU 1 248026135 248026135 single base substitution C T intron_variant MELA-AU 1 248026144 248026144 single base substitution C T intron_variant MELA-AU 1 248026365 248026365 single base substitution T G intron_variant MELA-AU 1 248026388 248026388 single base substitution C T intron_variant MELA-AU 1 248026451 248026451 single base substitution G A intron_variant MELA-AU 1 248026500 248026500 single base substitution G A intron_variant MELA-AU 1 248026616 248026616 single base substitution C T intron_variant MELA-AU 1 248026640 248026640 single base substitution G A intron_variant MELA-AU 1 248026645 248026645 single base substitution G A intron_variant MELA-AU 1 248026681 248026681 single base substitution A T intron_variant MELA-AU 1 248026748 248026748 single base substitution G A intron_variant MELA-AU 1 248026839 248026839 single base substitution C T intron_variant MELA-AU 1 248026922 248026922 single base substitution C T intron_variant MELA-AU 1 248026991 248026991 single base substitution G T intron_variant MELA-AU 1 248026994 248026994 single base substitution G A intron_variant MELA-AU 1 248027065 248027065 single base substitution G A intron_variant MELA-AU 1 248027082 248027082 single base substitution G A intron_variant MELA-AU 1 248027149 248027149 single base substitution C T intron_variant MELA-AU 1 248027151 248027151 single base substitution C G intron_variant MELA-AU 1 248027177 248027177 single base substitution C T intron_variant MELA-AU 1 248027253 248027253 single base substitution G A intron_variant MELA-AU 1 248027264 248027264 single base substitution C T intron_variant MELA-AU 1 248027315 248027315 single base substitution C T intron_variant MELA-AU 1 248027386 248027386 single base substitution T C intron_variant MELA-AU 1 248027447 248027448 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 1 248027532 248027532 single base substitution G A intron_variant MELA-AU 1 248027611 248027611 single base substitution T A intron_variant MELA-AU 1 248027613 248027613 single base substitution C T intron_variant MELA-AU 1 248027639 248027639 single base substitution C T intron_variant MELA-AU 1 248027850 248027850 single base substitution G A intron_variant MELA-AU 1 248027935 248027935 single base substitution T G intron_variant MELA-AU 1 248027950 248027950 single base substitution C T intron_variant MELA-AU 1 248027990 248027990 single base substitution C T intron_variant MELA-AU 1 248028063 248028063 single base substitution C T synonymous_variant G191G 573C>T MELA-AU 1 248028107 248028107 single base substitution C T missense_variant A206V 617C>T MELA-AU 1 248028181 248028181 single base substitution G A missense_variant E231K 691G>A MELA-AU 1 248028202 248028202 single base substitution G A missense_variant E238K 712G>A MELA-AU 1 248028252 248028252 single base substitution C T intron_variant MELA-AU 1 248028415 248028415 single base substitution C T intron_variant MELA-AU 1 248028502 248028502 single base substitution C A intron_variant MELA-AU 1 248028504 248028504 single base substitution G A intron_variant MELA-AU 1 248028601 248028601 single base substitution G A intron_variant MELA-AU 1 248028625 248028625 single base substitution G A intron_variant MELA-AU 1 248028650 248028650 single base substitution G A intron_variant MELA-AU 1 248028656 248028656 single base substitution G A intron_variant MELA-AU 1 248028795 248028795 single base substitution G A intron_variant MELA-AU 1 248028802 248028802 single base substitution G A intron_variant MELA-AU 1 248028995 248028995 single base substitution C T intron_variant MELA-AU 1 248029014 248029014 single base substitution C T intron_variant MELA-AU 1 248029028 248029028 single base substitution G A intron_variant MELA-AU 1 248029312 248029312 single base substitution G A intron_variant MELA-AU 1 248029414 248029414 single base substitution T G intron_variant MELA-AU 1 248029422 248029422 single base substitution G A intron_variant MELA-AU 1 248029602 248029602 single base substitution C T intron_variant MELA-AU 1 248029613 248029613 single base substitution G A intron_variant MELA-AU 1 248029786 248029786 single base substitution G A intron_variant MELA-AU 1 248029855 248029855 single base substitution G A intron_variant MELA-AU 1 248030000 248030000 single base substitution G A intron_variant MELA-AU 1 248030294 248030294 single base substitution G A intron_variant MELA-AU 1 248030344 248030344 single base substitution A T intron_variant MELA-AU 1 248030453 248030453 single base substitution C T intron_variant MELA-AU 1 248030473 248030473 single base substitution A T intron_variant MELA-AU 1 248030547 248030547 single base substitution C T intron_variant MELA-AU 1 248030568 248030568 single base substitution T G intron_variant MELA-AU 1 248030579 248030579 single base substitution C T intron_variant MELA-AU 1 248030646 248030646 single base substitution G A intron_variant MELA-AU 1 248030797 248030797 single base substitution A G intron_variant MELA-AU 1 248030799 248030799 single base substitution C T intron_variant MELA-AU 1 248030817 248030817 single base substitution G A intron_variant MELA-AU 1 248030878 248030878 single base substitution G A intron_variant MELA-AU 1 248030890 248030890 single base substitution C T intron_variant MELA-AU 1 248030927 248030927 single base substitution C T intron_variant MELA-AU 1 248030980 248030980 single base substitution G A intron_variant MELA-AU 1 248031066 248031066 single base substitution G A intron_variant MELA-AU 1 248031138 248031138 single base substitution C T intron_variant MELA-AU 1 248031198 248031198 single base substitution G A intron_variant MELA-AU 1 248031212 248031212 single base substitution G A intron_variant MELA-AU 1 248031220 248031220 single base substitution G T intron_variant MELA-AU 1 248031221 248031221 single base substitution G A intron_variant MELA-AU 1 248031344 248031344 single base substitution G A missense_variant E284K 850G>A MELA-AU 1 248031354 248031354 single base substitution G A missense_variant R287K 860G>A MELA-AU 1 248031406 248031406 single base substitution T C intron_variant MELA-AU 1 248031418 248031419 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 248031646 248031646 single base substitution C T intron_variant MELA-AU 1 248031803 248031803 single base substitution C T intron_variant MELA-AU 1 248031818 248031818 single base substitution C T intron_variant MELA-AU 1 248031866 248031866 single base substitution C T intron_variant MELA-AU 1 248031871 248031871 single base substitution G A intron_variant MELA-AU 1 248031972 248031972 single base substitution C T intron_variant MELA-AU 1 248032004 248032004 single base substitution C T intron_variant MELA-AU 1 248032119 248032119 single base substitution G A intron_variant MELA-AU 1 248032166 248032166 single base substitution C T intron_variant MELA-AU 1 248032167 248032167 single base substitution C T intron_variant MELA-AU 1 248032179 248032179 single base substitution G A intron_variant MELA-AU 1 248032225 248032225 single base substitution G A intron_variant MELA-AU 1 248032300 248032300 single base substitution C T intron_variant MELA-AU 1 248032327 248032327 single base substitution G A intron_variant MELA-AU 1 248032337 248032337 single base substitution G A intron_variant MELA-AU 1 248032427 248032427 single base substitution C T intron_variant MELA-AU 1 248032602 248032602 single base substitution C T intron_variant MELA-AU 1 248032636 248032636 single base substitution G A intron_variant MELA-AU 1 248032660 248032660 single base substitution C T intron_variant MELA-AU 1 248032765 248032765 single base substitution G A intron_variant MELA-AU 1 248032921 248032921 single base substitution C T intron_variant MELA-AU 1 248033004 248033004 single base substitution C T intron_variant MELA-AU 1 248033026 248033026 single base substitution G A intron_variant MELA-AU 1 248033153 248033153 single base substitution C T intron_variant MELA-AU 1 248033185 248033185 single base substitution G A intron_variant MELA-AU 1 248033216 248033216 single base substitution G A intron_variant MELA-AU 1 248033225 248033225 single base substitution G A intron_variant MELA-AU 1 248033372 248033372 single base substitution G A intron_variant MELA-AU 1 248033528 248033528 single base substitution G A intron_variant MELA-AU 1 248033537 248033537 single base substitution C T intron_variant MELA-AU 1 248033546 248033546 single base substitution C T intron_variant MELA-AU 1 248033565 248033565 single base substitution C T intron_variant MELA-AU 1 248033610 248033610 single base substitution G A intron_variant MELA-AU 1 248033655 248033655 single base substitution C T intron_variant MELA-AU 1 248033703 248033703 single base substitution G A intron_variant MELA-AU 1 248033974 248033974 single base substitution G A intron_variant MELA-AU 1 248034439 248034439 single base substitution G A intron_variant MELA-AU 1 248034470 248034470 single base substitution C T intron_variant MELA-AU 1 248034576 248034576 single base substitution C T intron_variant MELA-AU 1 248034649 248034649 single base substitution G A intron_variant MELA-AU 1 248034866 248034866 single base substitution C T intron_variant MELA-AU 1 248034881 248034881 single base substitution A T intron_variant MELA-AU 1 248034898 248034898 single base substitution G A intron_variant MELA-AU 1 248034994 248034994 single base substitution G A intron_variant MELA-AU 1 248035071 248035071 single base substitution A C intron_variant MELA-AU 1 248035199 248035199 single base substitution C T intron_variant MELA-AU 1 248035273 248035273 single base substitution A T intron_variant MELA-AU 1 248035403 248035403 single base substitution G A intron_variant MELA-AU 1 248035447 248035447 single base substitution C T intron_variant MELA-AU 1 248035454 248035454 single base substitution G A intron_variant MELA-AU 1 248035558 248035558 single base substitution G A intron_variant MELA-AU 1 248035721 248035721 single base substitution G A intron_variant MELA-AU 1 248035930 248035930 single base substitution C T intron_variant MELA-AU 1 248035942 248035942 single base substitution C T intron_variant MELA-AU 1 248035984 248035984 single base substitution G A intron_variant MELA-AU 1 248036190 248036190 single base substitution C T intron_variant MELA-AU 1 248036254 248036254 single base substitution G A intron_variant MELA-AU 1 248036293 248036293 single base substitution G A intron_variant MELA-AU 1 248036298 248036298 single base substitution C A intron_variant MELA-AU 1 248036354 248036354 single base substitution G A intron_variant MELA-AU 1 248036414 248036414 single base substitution C T intron_variant MELA-AU 1 248036458 248036458 single base substitution G A intron_variant MELA-AU 1 248036495 248036495 single base substitution G A intron_variant MELA-AU 1 248036663 248036663 single base substitution G A intron_variant MELA-AU 1 248036842 248036842 single base substitution G A intron_variant MELA-AU 1 248036890 248036890 single base substitution G A intron_variant MELA-AU 1 248036949 248036949 single base substitution A G intron_variant MELA-AU 1 248036983 248036983 single base substitution C T intron_variant MELA-AU 1 248036991 248036991 single base substitution C T intron_variant MELA-AU 1 248037045 248037045 single base substitution G A intron_variant MELA-AU 1 248037054 248037054 single base substitution G A intron_variant MELA-AU 1 248037067 248037067 single base substitution C T intron_variant MELA-AU 1 248037095 248037095 single base substitution C T intron_variant MELA-AU 1 248037097 248037097 single base substitution C T intron_variant MELA-AU 1 248037461 248037461 single base substitution G A intron_variant MELA-AU 1 248037690 248037690 single base substitution G A intron_variant MELA-AU 1 248037709 248037709 single base substitution G A intron_variant MELA-AU 1 248037711 248037711 single base substitution G A intron_variant MELA-AU 1 248037727 248037727 single base substitution C T intron_variant MELA-AU 1 248037763 248037763 single base substitution G A intron_variant MELA-AU 1 248037782 248037782 single base substitution G A intron_variant MELA-AU 1 248037851 248037851 single base substitution G A intron_variant MELA-AU 1 248037893 248037893 single base substitution C T intron_variant MELA-AU 1 248038134 248038134 single base substitution C T intron_variant MELA-AU 1 248038170 248038170 single base substitution C T intron_variant MELA-AU 1 248038213 248038213 single base substitution G A intron_variant MELA-AU 1 248038224 248038224 single base substitution C T intron_variant MELA-AU 1 248038252 248038252 single base substitution G A intron_variant MELA-AU 1 248038314 248038314 single base substitution G A intron_variant MELA-AU 1 248038321 248038321 single base substitution C T intron_variant MELA-AU 1 248038332 248038332 single base substitution G A intron_variant MELA-AU 1 248038428 248038428 single base substitution G A intron_variant MELA-AU 1 248038455 248038455 single base substitution C T intron_variant MELA-AU 1 248038515 248038515 single base substitution G A intron_variant MELA-AU 1 248038521 248038521 single base substitution C T intron_variant MELA-AU 1 248038532 248038532 single base substitution T A intron_variant MELA-AU 1 248038584 248038584 single base substitution A T intron_variant MELA-AU 1 248038593 248038593 single base substitution G A intron_variant MELA-AU 1 248038611 248038612 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 1 248038612 248038612 single base substitution C T intron_variant MELA-AU 1 248038655 248038655 single base substitution C T intron_variant MELA-AU 1 248038720 248038720 single base substitution C T intron_variant MELA-AU 1 248038731 248038731 single base substitution G A intron_variant MELA-AU 1 248038798 248038798 single base substitution G C intron_variant MELA-AU 1 248038904 248038904 single base substitution G A intron_variant MELA-AU 1 248038914 248038914 single base substitution G A intron_variant MELA-AU 1 248039113 248039113 single base substitution G A intron_variant MELA-AU 1 248039143 248039143 single base substitution C T intron_variant MELA-AU 1 248039156 248039156 single base substitution C T intron_variant MELA-AU 1 248039192 248039192 single base substitution C T intron_variant MELA-AU 1 248039194 248039194 single base substitution T A intron_variant MELA-AU 1 248039240 248039240 single base substitution C T synonymous_variant L304L 910C>T MELA-AU 1 248039313 248039313 single base substitution G A missense_variant R328Q 983G>A MELA-AU 1 248039325 248039325 single base substitution G A stop_gained W332* 995G>A MELA-AU 1 248039335 248039335 single base substitution C T synonymous_variant I335I 1005C>T MELA-AU 1 248039361 248039361 single base substitution G A missense_variant G344E 1031G>A MELA-AU 1 248039598 248039598 single base substitution C T missense_variant S423L 1268C>T MELA-AU 1 248039701 248039701 single base substitution C T synonymous_variant I457I 1371C>T MELA-AU 1 248039750 248039750 single base substitution C T missense_variant H474Y 1420C>T MELA-AU 1 248039759 248039759 single base substitution C T missense_variant P477S 1429C>T MELA-AU 1 248039775 248039775 single base substitution G A missense_variant R482K 1445G>A MELA-AU 1 248039835 248039835 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248039845 248039845 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248039854 248039854 single base substitution C T 3_prime_UTR_variant MELA-AU 1 248039914 248039914 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248039940 248039940 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248039946 248039946 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248040040 248040040 single base substitution T A 3_prime_UTR_variant MELA-AU 1 248040114 248040114 single base substitution C T 3_prime_UTR_variant MELA-AU 1 248040124 248040124 single base substitution C T 3_prime_UTR_variant MELA-AU 1 248040227 248040227 single base substitution C T 3_prime_UTR_variant MELA-AU 1 248040230 248040230 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248040236 248040236 single base substitution C T 3_prime_UTR_variant MELA-AU 1 248040341 248040341 single base substitution C T 3_prime_UTR_variant MELA-AU 1 248040370 248040370 single base substitution C T 3_prime_UTR_variant MELA-AU 1 248040389 248040389 single base substitution C T 3_prime_UTR_variant MELA-AU 1 248040499 248040499 single base substitution C T 3_prime_UTR_variant MELA-AU 1 248040537 248040537 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248040646 248040646 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248040650 248040650 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248040819 248040819 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248040883 248040883 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248041055 248041055 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248041198 248041198 single base substitution C T 3_prime_UTR_variant MELA-AU 1 248041409 248041409 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248041439 248041439 single base substitution G A 3_prime_UTR_variant MELA-AU 1 248041479 248041479 insertion of <=200bp - AAAC 3_prime_UTR_variant MELA-AU 1 248041482 248041482 single base substitution T C 3_prime_UTR_variant MELA-AU 1 248041501 248041501 single base substitution A G 3_prime_UTR_variant MELA-AU 1 248041674 248041674 single base substitution C T downstream_gene_variant MELA-AU 1 248041749 248041749 single base substitution C T downstream_gene_variant MELA-AU 1 248041794 248041794 single base substitution G A downstream_gene_variant MELA-AU 1 248041807 248041807 single base substitution C T downstream_gene_variant MELA-AU 1 248041824 248041824 single base substitution G A downstream_gene_variant MELA-AU 1 248041904 248041904 single base substitution G A downstream_gene_variant MELA-AU 1 248041913 248041913 single base substitution C T downstream_gene_variant MELA-AU 1 248041947 248041947 single base substitution C T downstream_gene_variant MELA-AU 1 248041955 248041955 single base substitution G A downstream_gene_variant MELA-AU 1 248041985 248041985 single base substitution C T downstream_gene_variant MELA-AU 1 248042040 248042040 single base substitution A C downstream_gene_variant MELA-AU 1 248042049 248042049 single base substitution C T downstream_gene_variant MELA-AU 1 248042072 248042072 single base substitution C T downstream_gene_variant MELA-AU 1 248042151 248042151 single base substitution C T downstream_gene_variant MELA-AU 1 248042268 248042268 single base substitution C T downstream_gene_variant MELA-AU 1 248042285 248042285 single base substitution C T downstream_gene_variant MELA-AU 1 248042309 248042309 single base substitution C T downstream_gene_variant MELA-AU 1 248042346 248042346 single base substitution G A downstream_gene_variant MELA-AU 1 248042589 248042589 single base substitution G A downstream_gene_variant MELA-AU 1 248042610 248042610 single base substitution C T downstream_gene_variant MELA-AU 1 248042638 248042638 single base substitution C T downstream_gene_variant MELA-AU 1 248042654 248042654 single base substitution C T downstream_gene_variant MELA-AU 1 248042677 248042677 single base substitution G A downstream_gene_variant MELA-AU 1 248042689 248042689 single base substitution C T downstream_gene_variant MELA-AU 1 248042852 248042852 single base substitution C T downstream_gene_variant MELA-AU 1 248042866 248042866 single base substitution C T downstream_gene_variant MELA-AU 1 248042950 248042950 single base substitution C T downstream_gene_variant MELA-AU 1 248042951 248042951 single base substitution C T downstream_gene_variant MELA-AU 1 248042982 248042982 single base substitution C T downstream_gene_variant MELA-AU 1 248043013 248043013 single base substitution C T downstream_gene_variant MELA-AU 1 248043113 248043113 single base substitution G A downstream_gene_variant MELA-AU 1 248043180 248043180 single base substitution C T downstream_gene_variant MELA-AU 1 248043221 248043221 single base substitution C T downstream_gene_variant MELA-AU 1 248043273 248043273 single base substitution G A downstream_gene_variant MELA-AU 1 248043311 248043311 single base substitution G A downstream_gene_variant MELA-AU 1 248043425 248043425 single base substitution T A downstream_gene_variant MELA-AU 1 248043578 248043578 single base substitution C T downstream_gene_variant MELA-AU 1 248043640 248043640 single base substitution C T downstream_gene_variant MELA-AU 1 248043665 248043665 single base substitution C T downstream_gene_variant MELA-AU 1 248043901 248043901 single base substitution C T downstream_gene_variant MELA-AU 1 248043960 248043960 single base substitution C T downstream_gene_variant MELA-AU 1 248043963 248043963 single base substitution A T downstream_gene_variant MELA-AU 1 248044010 248044010 single base substitution C T downstream_gene_variant MELA-AU 1 248044025 248044025 single base substitution C T downstream_gene_variant MELA-AU 1 248044122 248044122 single base substitution G A downstream_gene_variant MELA-AU 1 248044230 248044230 single base substitution G A downstream_gene_variant MELA-AU 1 248044264 248044264 single base substitution G A downstream_gene_variant MELA-AU 1 248044281 248044281 single base substitution G A downstream_gene_variant MELA-AU 1 248044456 248044456 single base substitution G A downstream_gene_variant MELA-AU 1 248044514 248044514 single base substitution C T downstream_gene_variant MELA-AU 1 248044656 248044656 single base substitution T A downstream_gene_variant MELA-AU 1 248044759 248044759 single base substitution C T downstream_gene_variant MELA-AU 1 248044817 248044817 single base substitution C T downstream_gene_variant MELA-AU 1 248044835 248044835 single base substitution A T downstream_gene_variant MELA-AU 1 248044939 248044939 single base substitution C T downstream_gene_variant MELA-AU 1 248045101 248045101 single base substitution C T downstream_gene_variant MELA-AU 1 248045247 248045247 single base substitution G A downstream_gene_variant MELA-AU 1 248045253 248045253 single base substitution G A downstream_gene_variant MELA-AU 1 248045258 248045258 single base substitution G A downstream_gene_variant MELA-AU 1 248045264 248045265 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 248045352 248045352 single base substitution A G downstream_gene_variant MELA-AU 1 248045401 248045401 single base substitution A C downstream_gene_variant MELA-AU 1 248045428 248045428 single base substitution C T downstream_gene_variant MELA-AU 1 248045494 248045494 single base substitution G A downstream_gene_variant MELA-AU 1 248045551 248045551 single base substitution C T downstream_gene_variant MELA-AU 1 248045637 248045637 single base substitution T A downstream_gene_variant MELA-AU 1 248045647 248045647 single base substitution G C downstream_gene_variant MELA-AU 1 248045649 248045649 single base substitution C T downstream_gene_variant MELA-AU 1 248045681 248045681 single base substitution C A downstream_gene_variant MELA-AU 1 248045746 248045746 single base substitution G A downstream_gene_variant MELA-AU 1 248045801 248045801 single base substitution C T downstream_gene_variant MELA-AU 1 248045813 248045813 single base substitution C A downstream_gene_variant MELA-AU 1 248046056 248046056 single base substitution G A downstream_gene_variant MELA-AU 1 248046077 248046077 single base substitution G A downstream_gene_variant MELA-AU 1 248046128 248046128 single base substitution C A downstream_gene_variant MELA-AU 1 248046235 248046235 single base substitution C T downstream_gene_variant MELA-AU 1 248046266 248046266 single base substitution C T downstream_gene_variant MELA-AU 1 248046287 248046287 single base substitution A T downstream_gene_variant MELA-AU 1 248046299 248046299 single base substitution A G downstream_gene_variant MELA-AU 1 248046320 248046320 single base substitution C T downstream_gene_variant MELA-AU 1 248046402 248046402 single base substitution C T downstream_gene_variant MELA-AU 1 248046436 248046436 single base substitution G A downstream_gene_variant ORCA-IN 1 248022012 248022012 single base substitution C T intron_variant ORCA-IN 1 248029245 248029245 single base substitution T G intron_variant OV-AU 1 248017252 248017252 single base substitution C G upstream_gene_variant OV-AU 1 248023391 248023391 single base substitution T C intron_variant OV-AU 1 248023511 248023511 single base substitution A C intron_variant OV-AU 1 248025021 248025021 single base substitution C G intron_variant OV-AU 1 248033655 248033655 single base substitution C T intron_variant OV-AU 1 248034609 248034609 single base substitution T A intron_variant OV-AU 1 248037255 248037255 single base substitution G T intron_variant OV-AU 1 248037790 248037790 single base substitution G T intron_variant OV-AU 1 248037791 248037791 single base substitution G T intron_variant OV-AU 1 248037792 248037792 single base substitution C T intron_variant PACA-AU 1 248016929 248016929 single base substitution C T upstream_gene_variant PACA-AU 1 248017235 248017235 single base substitution C T upstream_gene_variant PACA-AU 1 248019572 248019572 single base substitution G A upstream_gene_variant PACA-AU 1 248020716 248020716 single base substitution C A synonymous_variant A56A 168C>A PACA-AU 1 248022528 248022528 single base substitution C T intron_variant PACA-AU 1 248023020 248023020 single base substitution G T intron_variant PACA-AU 1 248023437 248023437 single base substitution T G intron_variant PACA-AU 1 248023944 248023944 single base substitution T G missense_variant L149R 446T>G PACA-AU 1 248024176 248024176 single base substitution G A intron_variant PACA-AU 1 248025243 248025243 single base substitution C T intron_variant PACA-AU 1 248025944 248025944 single base substitution A G intron_variant PACA-AU 1 248026862 248026862 single base substitution C A intron_variant PACA-AU 1 248028032 248028032 single base substitution G A missense_variant R181H 542G>A PACA-AU 1 248028188 248028188 single base substitution C T missense_variant A233V 698C>T PACA-AU 1 248028322 248028322 single base substitution G A intron_variant PACA-AU 1 248028607 248028607 single base substitution A C intron_variant PACA-AU 1 248029487 248029487 single base substitution T C intron_variant PACA-AU 1 248030547 248030547 single base substitution C A intron_variant PACA-AU 1 248031609 248031609 single base substitution T G intron_variant PACA-AU 1 248033551 248033551 single base substitution C T intron_variant PACA-AU 1 248034676 248034676 single base substitution G T intron_variant PACA-AU 1 248034966 248034966 single base substitution C T intron_variant PACA-AU 1 248036095 248036095 single base substitution T A intron_variant PACA-AU 1 248036874 248036874 single base substitution A G intron_variant PACA-AU 1 248036992 248036992 single base substitution G A intron_variant PACA-AU 1 248037040 248037040 single base substitution C T intron_variant PACA-AU 1 248038578 248038578 single base substitution T A intron_variant PACA-AU 1 248039033 248039033 single base substitution A G intron_variant PACA-AU 1 248039444 248039444 single base substitution G A missense_variant E372K 1114G>A PACA-AU 1 248039452 248039452 single base substitution G A synonymous_variant T374T 1122G>A PACA-AU 1 248040540 248040540 single base substitution T C 3_prime_UTR_variant PACA-AU 1 248040649 248040649 single base substitution T G 3_prime_UTR_variant PACA-AU 1 248041938 248041938 single base substitution G C downstream_gene_variant PACA-AU 1 248042225 248042225 single base substitution T A downstream_gene_variant PACA-AU 1 248043964 248043964 single base substitution A T downstream_gene_variant PACA-AU 1 248045474 248045474 single base substitution C T downstream_gene_variant PACA-AU 1 248045598 248045598 single base substitution C T downstream_gene_variant PACA-AU 1 248045968 248045968 single base substitution T G downstream_gene_variant PACA-CA 1 248016610 248016610 single base substitution C T upstream_gene_variant PACA-CA 1 248017387 248017387 single base substitution G A upstream_gene_variant PACA-CA 1 248018199 248018199 insertion of <=200bp - AT upstream_gene_variant PACA-CA 1 248018759 248018759 single base substitution A C upstream_gene_variant PACA-CA 1 248018814 248018814 single base substitution C T upstream_gene_variant PACA-CA 1 248020258 248020258 single base substitution C A upstream_gene_variant PACA-CA 1 248020813 248020813 single base substitution G A missense_variant A89T 265G>A PACA-CA 1 248021516 248021516 single base substitution G A intron_variant PACA-CA 1 248024526 248024526 single base substitution C T intron_variant PACA-CA 1 248024538 248024538 insertion of <=200bp - AC intron_variant PACA-CA 1 248024580 248024580 insertion of <=200bp - AC intron_variant PACA-CA 1 248025530 248025530 single base substitution G T intron_variant PACA-CA 1 248026710 248026710 single base substitution C T intron_variant PACA-CA 1 248027078 248027078 single base substitution G A intron_variant PACA-CA 1 248027081 248027081 single base substitution C T intron_variant PACA-CA 1 248027116 248027116 single base substitution G T intron_variant PACA-CA 1 248027981 248027981 single base substitution C T intron_variant PACA-CA 1 248028669 248028669 single base substitution C T intron_variant PACA-CA 1 248028703 248028703 single base substitution G T intron_variant PACA-CA 1 248028893 248028893 single base substitution C T intron_variant PACA-CA 1 248029171 248029171 single base substitution G A intron_variant PACA-CA 1 248029193 248029193 single base substitution T G intron_variant PACA-CA 1 248029422 248029422 single base substitution G A intron_variant PACA-CA 1 248029949 248029949 single base substitution C T intron_variant PACA-CA 1 248030058 248030058 single base substitution C G intron_variant PACA-CA 1 248030294 248030294 single base substitution G T intron_variant PACA-CA 1 248032546 248032546 single base substitution C T intron_variant PACA-CA 1 248032722 248032722 single base substitution C T intron_variant PACA-CA 1 248033671 248033671 single base substitution C A intron_variant PACA-CA 1 248034301 248034301 single base substitution T G intron_variant PACA-CA 1 248036259 248036259 single base substitution C T intron_variant PACA-CA 1 248036525 248036525 single base substitution T C intron_variant PACA-CA 1 248036996 248036996 single base substitution G A intron_variant PACA-CA 1 248037109 248037109 single base substitution A C intron_variant PACA-CA 1 248037955 248037955 single base substitution C T intron_variant PACA-CA 1 248038157 248038157 single base substitution A G intron_variant PACA-CA 1 248038466 248038466 single base substitution C T intron_variant PACA-CA 1 248038589 248038589 single base substitution T A intron_variant PACA-CA 1 248040071 248040071 single base substitution G T 3_prime_UTR_variant PACA-CA 1 248041290 248041290 single base substitution G A 3_prime_UTR_variant PACA-CA 1 248041514 248041514 single base substitution A T downstream_gene_variant PACA-CA 1 248041760 248041760 single base substitution A G downstream_gene_variant PACA-CA 1 248042499 248042499 single base substitution C G downstream_gene_variant PACA-CA 1 248042690 248042690 single base substitution G A downstream_gene_variant PACA-CA 1 248043616 248043616 single base substitution A C downstream_gene_variant PACA-CA 1 248043791 248043791 single base substitution T A downstream_gene_variant PACA-CA 1 248045440 248045440 single base substitution C A downstream_gene_variant PAEN-AU 1 248024737 248024737 single base substitution C G intron_variant PAEN-AU 1 248031981 248031981 single base substitution C A intron_variant PAEN-IT 1 248029053 248029053 single base substitution A G intron_variant PAEN-IT 1 248035642 248035642 single base substitution C T intron_variant PAEN-IT 1 248039491 248039491 single base substitution G T synonymous_variant L387L 1161G>T PBCA-DE 1 248020910 248020910 single base substitution G C missense_variant G121A 362G>C PBCA-DE 1 248022912 248022912 insertion of <=200bp - T intron_variant PBCA-DE 1 248026795 248026795 single base substitution G A intron_variant PBCA-DE 1 248029646 248029646 deletion of <=200bp T - intron_variant PBCA-DE 1 248033293 248033293 single base substitution A T intron_variant PBCA-DE 1 248035310 248035310 single base substitution C T intron_variant PBCA-DE 1 248035394 248035394 single base substitution A G intron_variant PBCA-DE 1 248038865 248038866 deletion of <=200bp CA - intron_variant PBCA-DE 1 248039693 248039693 single base substitution C T missense_variant P455S 1363C>T PRAD-CA 1 248017310 248017310 single base substitution A C upstream_gene_variant PRAD-CA 1 248026172 248026172 single base substitution G T intron_variant PRAD-CA 1 248030317 248030317 single base substitution T G intron_variant PRAD-UK 1 248015672 248015672 single base substitution A C upstream_gene_variant PRAD-UK 1 248018402 248018402 single base substitution A T upstream_gene_variant PRAD-UK 1 248022733 248022733 deletion of <=200bp A - intron_variant PRAD-UK 1 248022733 248022733 single base substitution A T intron_variant PRAD-UK 1 248026238 248026238 single base substitution G A intron_variant PRAD-UK 1 248038997 248038997 single base substitution G T intron_variant PRAD-UK 1 248042689 248042689 single base substitution C T downstream_gene_variant READ-US 1 248020556 248020556 single base substitution G C missense_variant W3S 8G>C READ-US 1 248028087 248028087 single base substitution G A synonymous_variant R199R 597G>A READ-US 1 248031152 248031152 single base substitution G C synonymous_variant V251V 753G>C READ-US 1 248039414 248039414 single base substitution G T missense_variant V362F 1084G>T RECA-EU 1 248019055 248019055 single base substitution T A upstream_gene_variant RECA-EU 1 248023251 248023251 single base substitution T C intron_variant RECA-EU 1 248034982 248034982 single base substitution T C intron_variant RECA-EU 1 248038418 248038418 single base substitution A T intron_variant RECA-EU 1 248040984 248040984 single base substitution T C 3_prime_UTR_variant RECA-EU 1 248041228 248041228 single base substitution C T 3_prime_UTR_variant RECA-EU 1 248041824 248041824 single base substitution G T downstream_gene_variant RECA-EU 1 248042274 248042274 single base substitution G A downstream_gene_variant RECA-EU 1 248042758 248042758 single base substitution T A downstream_gene_variant SKCA-BR 1 248015582 248015582 single base substitution C T upstream_gene_variant SKCA-BR 1 248016007 248016020 deletion of <=200bp AAAAAAAAAAAAAG - upstream_gene_variant SKCA-BR 1 248016210 248016236 deletion of <=200bp CACACACACACAGAGAGAGAGAGAGAG - upstream_gene_variant SKCA-BR 1 248016453 248016453 single base substitution A C upstream_gene_variant SKCA-BR 1 248016477 248016477 single base substitution C A upstream_gene_variant SKCA-BR 1 248016660 248016660 single base substitution G A upstream_gene_variant SKCA-BR 1 248017865 248017865 single base substitution C T upstream_gene_variant SKCA-BR 1 248018210 248018210 single base substitution G T upstream_gene_variant SKCA-BR 1 248018532 248018532 single base substitution C T upstream_gene_variant SKCA-BR 1 248018926 248018926 single base substitution C T upstream_gene_variant SKCA-BR 1 248020053 248020053 single base substitution G A upstream_gene_variant SKCA-BR 1 248022042 248022042 single base substitution G A intron_variant SKCA-BR 1 248023134 248023134 single base substitution G A intron_variant SKCA-BR 1 248023354 248023354 single base substitution C T intron_variant SKCA-BR 1 248023402 248023402 single base substitution T G intron_variant SKCA-BR 1 248023692 248023692 single base substitution G T intron_variant SKCA-BR 1 248023824 248023824 single base substitution G A intron_variant SKCA-BR 1 248023870 248023870 single base substitution T A intron_variant SKCA-BR 1 248023872 248023901 deletion of <=200bp AGGTACAGATTGAGGGCATCTGTAACAGCT - intron_variant SKCA-BR 1 248023885 248023885 single base substitution G A intron_variant SKCA-BR 1 248024923 248024923 single base substitution C T intron_variant SKCA-BR 1 248024929 248024929 single base substitution C T intron_variant SKCA-BR 1 248025245 248025245 single base substitution G A intron_variant SKCA-BR 1 248025253 248025253 single base substitution C T intron_variant SKCA-BR 1 248025939 248025939 single base substitution C T intron_variant SKCA-BR 1 248026192 248026192 single base substitution G A intron_variant SKCA-BR 1 248026434 248026434 single base substitution G A intron_variant SKCA-BR 1 248026451 248026451 single base substitution G A intron_variant SKCA-BR 1 248026975 248026975 single base substitution G A intron_variant SKCA-BR 1 248027253 248027253 single base substitution G A intron_variant SKCA-BR 1 248027716 248027716 single base substitution C T intron_variant SKCA-BR 1 248027981 248027981 single base substitution C G intron_variant SKCA-BR 1 248028249 248028249 single base substitution T C intron_variant SKCA-BR 1 248029212 248029212 single base substitution G A intron_variant SKCA-BR 1 248030144 248030144 single base substitution C T intron_variant SKCA-BR 1 248030286 248030286 single base substitution G A intron_variant SKCA-BR 1 248030476 248030476 single base substitution C T intron_variant SKCA-BR 1 248030772 248030772 single base substitution G A intron_variant SKCA-BR 1 248030980 248030980 single base substitution G A intron_variant SKCA-BR 1 248032503 248032503 single base substitution A G intron_variant SKCA-BR 1 248032561 248032561 single base substitution C T intron_variant SKCA-BR 1 248033026 248033026 single base substitution G A intron_variant SKCA-BR 1 248033048 248033048 single base substitution G A intron_variant SKCA-BR 1 248033064 248033064 single base substitution C T intron_variant SKCA-BR 1 248033386 248033386 single base substitution C T intron_variant SKCA-BR 1 248033387 248033387 single base substitution C T intron_variant SKCA-BR 1 248033753 248033753 single base substitution A C intron_variant SKCA-BR 1 248033926 248033926 single base substitution T C intron_variant SKCA-BR 1 248034075 248034075 single base substitution G A intron_variant SKCA-BR 1 248035436 248035436 single base substitution G A intron_variant SKCA-BR 1 248036096 248036096 single base substitution G A intron_variant SKCA-BR 1 248037054 248037054 single base substitution G A intron_variant SKCA-BR 1 248038229 248038229 single base substitution T A intron_variant SKCA-BR 1 248038621 248038621 single base substitution T C intron_variant SKCA-BR 1 248038799 248038799 single base substitution C T intron_variant SKCA-BR 1 248039143 248039143 single base substitution C T intron_variant SKCA-BR 1 248039443 248039443 single base substitution G A synonymous_variant G371G 1113G>A SKCA-BR 1 248039647 248039647 single base substitution C T synonymous_variant L439L 1317C>T SKCA-BR 1 248039759 248039759 single base substitution C T missense_variant P477S 1429C>T SKCA-BR 1 248040466 248040466 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 248040882 248040882 single base substitution A C 3_prime_UTR_variant SKCA-BR 1 248042741 248042741 single base substitution C T downstream_gene_variant SKCA-BR 1 248043485 248043485 single base substitution G A downstream_gene_variant SKCA-BR 1 248043695 248043695 single base substitution T C downstream_gene_variant SKCA-BR 1 248043964 248043964 insertion of <=200bp - AT downstream_gene_variant SKCM-US 1 248020615 248020615 single base substitution C T synonymous_variant L23L 67C>T SKCM-US 1 248020688 248020688 single base substitution C T missense_variant S47L 140C>T SKCM-US 1 248023992 248023992 single base substitution G A missense_variant G165E 494G>A SKCM-US 1 248023993 248023993 single base substitution G A synonymous_variant G165G 495G>A SKCM-US 1 248023996 248023996 single base substitution A C missense_variant K166N 498A>C SKCM-US 1 248028006 248028006 single base substitution G A splice_acceptor_variant SKCM-US 1 248028016 248028016 single base substitution G A missense_variant E176K 526G>A SKCM-US 1 248031151 248031151 single base substitution T G missense_variant V251G 752T>G SKCM-US 1 248031355 248031355 single base substitution G A synonymous_variant R287R 861G>A SKCM-US 1 248031359 248031359 single base substitution T C missense_variant F289L 865T>C SKCM-US 1 248039236 248039236 single base substitution G A synonymous_variant P302P 906G>A SKCM-US 1 248039273 248039273 single base substitution G A missense_variant D315N 943G>A SKCM-US 1 248039286 248039286 single base substitution G A stop_gained W319* 956G>A SKCM-US 1 248039287 248039287 single base substitution G A stop_gained W319* 957G>A SKCM-US 1 248039296 248039296 single base substitution C T synonymous_variant V322V 966C>T SKCM-US 1 248039313 248039313 single base substitution G A missense_variant R328Q 983G>A SKCM-US 1 248039361 248039361 single base substitution G A missense_variant G344E 1031G>A SKCM-US 1 248039388 248039388 single base substitution G A missense_variant G353E 1058G>A SKCM-US 1 248039405 248039405 single base substitution G A missense_variant G359S 1075G>A SKCM-US 1 248039441 248039441 single base substitution G A missense_variant G371R 1111G>A SKCM-US 1 248039443 248039443 single base substitution G A synonymous_variant G371G 1113G>A SKCM-US 1 248039444 248039444 single base substitution G A missense_variant E372K 1114G>A SKCM-US 1 248039459 248039459 single base substitution C T missense_variant P377S 1129C>T SKCM-US 1 248039598 248039598 single base substitution C T missense_variant S423L 1268C>T SKCM-US 1 248039677 248039677 single base substitution C T synonymous_variant F449F 1347C>T SKCM-US 1 248039696 248039696 single base substitution C T missense_variant L456F 1366C>T SKCM-US 1 248039742 248039742 single base substitution C T missense_variant S471F 1412C>T SKCM-US 1 248039759 248039759 single base substitution C T missense_variant P477S 1429C>T SKCM-US 1 248039768 248039768 single base substitution G A missense_variant D480N 1438G>A SKCM-US 1 248039784 248039784 single base substitution A T missense_variant H485L 1454A>T STAD-US 1 248020689 248020689 single base substitution G A synonymous_variant S47S 141G>A STAD-US 1 248020713 248020713 single base substitution C T synonymous_variant Y55Y 165C>T STAD-US 1 248020822 248020822 deletion of <=200bp G - frameshift_variant G92 STAD-US 1 248028080 248028080 single base substitution A G missense_variant E197G 590A>G STAD-US 1 248028188 248028188 single base substitution C T missense_variant A233V 698C>T STAD-US 1 248039226 248039226 single base substitution C T missense_variant T299M 896C>T STAD-US 1 248039478 248039478 single base substitution C A missense_variant A383D 1148C>A STAD-US 1 248039564 248039564 single base substitution G T missense_variant G412W 1234G>T STAD-US 1 248039603 248039603 single base substitution T C missense_variant Y425H 1273T>C STAD-US 1 248039617 248039617 single base substitution T C synonymous_variant D429D 1287T>C STAD-US 1 248039649 248039649 single base substitution T G missense_variant F440C 1319T>G THCA-SA 1 248023966 248023966 single base substitution C T synonymous_variant D156D 468C>T THCA-SA 1 248040018 248040018 single base substitution A G 3_prime_UTR_variant THCA-SA 1 248041599 248041599 single base substitution A G downstream_gene_variant UCEC-US 1 248023926 248023926 single base substitution T C missense_variant L143P 428T>C UCEC-US 1 248023955 248023955 single base substitution G T stop_gained E153* 457G>T UCEC-US 1 248023987 248023987 single base substitution C T synonymous_variant N163N 489C>T UCEC-US 1 248028032 248028032 single base substitution G A missense_variant R181H 542G>A UCEC-US 1 248028107 248028107 single base substitution C T missense_variant A206V 617C>T UCEC-US 1 248028214 248028214 single base substitution C T missense_variant R242C 724C>T UCEC-US 1 248031154 248031154 single base substitution G T missense_variant R252I 755G>T UCEC-US 1 248039261 248039261 single base substitution C T missense_variant R311C 931C>T UCEC-US 1 248039312 248039312 single base substitution C T stop_gained R328* 982C>T UCEC-US 1 248039417 248039417 single base substitution T C missense_variant C363R 1087T>C UCEC-US 1 248039559 248039559 single base substitution G A missense_variant C410Y 1229G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D9-A6EC-06 COSM4400988 c.943G>A p.D315N Substitution - Missense 1:247875971-247875971 + 3844_T COSM3977434 c.538C>G p.Q180E Substitution - Missense 1:247864726-247864726 + CSCC-62-T COSM1296157 c.484G>A p.A162T Substitution - Missense 1:247860680-247860680 + TCGA-66-2777-01 COSM680578 c.807C>T p.I269I Substitution - coding silent 1:247867999-247867999 + S00022 COSM316163 c.1393G>A p.G465R Substitution - Missense 1:247876421-247876421 + ESO-717 COSM425893 c.1082G>A p.G361E Substitution - Missense 1:247876110-247876110 + 3 COSM5731963 c.516+1G>A p.? Unknown 1:247860713-247860713 + TCGA-37-5819-01 COSM680569 c.1391C>T p.A464V Substitution - Missense 1:247876419-247876419 + CHC892T COSM4960150 c.726C>T p.R242R Substitution - coding silent 1:247864914-247864914 + LP6005500-DNA_B01 COSM4410116 c.926A>T p.D309V Substitution - Missense 1:247875954-247875954 + S00472 COSM5657617 c.732C>A p.A244A Substitution - coding silent 1:247864920-247864920 + LUAD-D01603 COSM363068 c.1156C>A p.L386M Substitution - Missense 1:247876184-247876184 + CHC1763T COSM4789718 c.55T>C p.C19R Substitution - Missense 1:247857301-247857301 + TCGA-HT-7467-01 COSM907105 c.542G>A p.R181H Substitution - Missense 1:247864730-247864730 + 2492723 COSM2232553 c.690G>A p.K230K Substitution - coding silent 1:247864878-247864878 + D28 COSM907109 c.849G>A p.R283R Substitution - coding silent 1:247868041-247868041 + 3N43-VS-3T43 COSM4982004 c.474G>C p.L158F Substitution - Missense 1:247860670-247860670 + TCGA-AA-3663-01 COSM425890 c.8G>C p.W3S Substitution - Missense 1:247857254-247857254 + 2492721 COSM2232553 c.690G>A p.K230K Substitution - coding silent 1:247864878-247864878 + BD87T COSM5505124 c.330C>T p.D110D Substitution - coding silent 1:247857576-247857576 + 3844_T COSM3977435 c.770+9G>A p.? Unknown 1:247867876-247867876 + CHC1763T COSM4789718 c.55T>C p.C19R Substitution - Missense 1:247857301-247857301 + YUKLAB COSM1690115 c.1400G>A p.G467E Substitution - Missense 1:247876428-247876428 + CSCC-19-T COSM210698 c.1154G>T p.W385L Substitution - Missense 1:247876182-247876182 + LAU63 COSM233647 c.1138G>A p.G380R Substitution - Missense 1:247876166-247876166 + PT32 COSM3486839 c.1129C>T p.P377S Substitution - Missense 1:247876157-247876157 + ATL034 COSM5705374 c.200C>A p.S67* Substitution - Nonsense 1:247857446-247857446 + tumor_4102009 COSM3356555 c.5C>T p.A2V Substitution - Missense 1:247857251-247857251 + TCGA-GN-A26C-01 COSM3486830 c.140C>T p.S47L Substitution - Missense 1:247857386-247857386 + ESO-0013 COSM1268563 c.205T>G p.F69V Substitution - Missense 1:247857451-247857451 + TCGA-B5-A11E-01 COSM907112 c.1087T>C p.C363R Substitution - Missense 1:247876115-247876115 + TCGA-EE-A3JA-06 COSM3486844 c.1438G>A p.D480N Substitution - Missense 1:247876466-247876466 + TCGA-EE-A3JB-06 COSM4898322 c.1111G>A p.G371R Substitution - Missense 1:247876139-247876139 + C086 COSM110541 c.1114G>A p.E372K Substitution - Missense 1:247876142-247876142 + LAU63 COSM235512 c.1245G>A p.L415L Substitution - coding silent 1:247876273-247876273 + TCGA-EE-A2M5-06 COSM3486840 c.1268C>T p.S423L Substitution - Missense 1:247876296-247876296 + TCGA-EE-A2MS-06 COSM2232571 c.983G>A p.R328Q Substitution - Missense 1:247876011-247876011 + TCGA-IK-7675-01 COSM3966441 c.1192C>T p.P398S Substitution - Missense 1:247876220-247876220 + Pat_05_A COSM5846114 c.1127C>T p.S376F Substitution - Missense 1:247876155-247876155 + CSCC-31-T COSM1668648 c.853C>T p.L285F Substitution - Missense 1:247868045-247868045 + TCGA-HU-A4H8-01 COSM4030620 c.141G>A p.S47S Substitution - coding silent 1:247857387-247857387 + S02351 COSM1341035 c.1086C>A p.V362V Substitution - coding silent 1:247876114-247876114 + TCGA-EE-A2MM-06 COSM2232571 c.983G>A p.R328Q Substitution - Missense 1:247876011-247876011 + 12T COSM110541 c.1114G>A p.E372K Substitution - Missense 1:247876142-247876142 + RK085_C01 COSM2232539 c.483G>A p.E161E Substitution - coding silent 1:247860679-247860679 + 631084 COSM323995 c.459G>T p.E153D Substitution - Missense 1:247860655-247860655 + Pat_22_B COSM110541 c.1114G>A p.E372K Substitution - Missense 1:247876142-247876142 + Pa28C COSM83985 c.1216G>T p.E406* Substitution - Nonsense 1:247876244-247876244 + TCGA-32-1970-01 COSM2232565 c.905C>T p.P302L Substitution - Missense 1:247875933-247875933 + TCGA-D3-A5GU-06 COSM3486839 c.1129C>T p.P377S Substitution - Missense 1:247876157-247876157 + S01453 COSM5668399 c.137A>T p.K46M Substitution - Missense 1:247857383-247857383 + TCGA-ER-A42K-06 COSM3804704 c.906G>A p.P302P Substitution - coding silent 1:247875934-247875934 + TCGA-FS-A1Z3-06 COSM3486843 c.1429C>T p.P477S Substitution - Missense 1:247876457-247876457 + 2492723 COSM5719524 c.961G>A p.D321N Substitution - Missense 1:247875989-247875989 + TCGA-B7-5816-01 COSM4030622 c.590A>G p.E197G Substitution - Missense 1:247864778-247864778 + CSCC-40-T COSM4504600 c.66C>T p.F22F Substitution - coding silent 1:247857312-247857312 + PT36 COSM5914806 c.886G>A p.D296N Substitution - Missense 1:247875914-247875914 + PDA_022 COSM146852 c.1121C>T p.T374M Substitution - Missense 1:247876149-247876149 + PT35 COSM5911545 c.748-8C>T p.? Unknown 1:247867837-247867837 + HCC156T COSM3705727 c.844A>T p.R282W Substitution - Missense 1:247868036-247868036 + TCGA-G4-6309-01 COSM1341029 c.124G>A p.E42K Substitution - Missense 1:247857370-247857370 + TCGA-CM-6171-01 COSM425890 c.8G>C p.W3S Substitution - Missense 1:247857254-247857254 + T3024 COSM4736173 c.355G>A p.D119N Substitution - Missense 1:247857601-247857601 + SC_9081 COSM5549756 c.1186G>A p.A396T Substitution - Missense 1:247876214-247876214 + SW48 COSM534394 c.85G>A p.V29M Substitution - Missense 1:247857331-247857331 + CSCC-5-T COSM4454279 c.451A>G p.R151G Substitution - Missense 1:247860647-247860647 + PT21_2 COSM1690115 c.1400G>A p.G467E Substitution - Missense 1:247876428-247876428 + S02290 COSM5686366 c.247C>G p.R83G Substitution - Missense 1:247857493-247857493 + TCGA-AG-4022-01 COSM425890 c.8G>C p.W3S Substitution - Missense 1:247857254-247857254 + TCGA-AG-3892-01 COSM258242 c.501G>T p.K167N Substitution - Missense 1:247860697-247860697 + 2492722 COSM5719524 c.961G>A p.D321N Substitution - Missense 1:247875989-247875989 + 2492720 COSM5719524 c.961G>A p.D321N Substitution - Missense 1:247875989-247875989 + TCGA-33-4566-01 COSM680583 c.724C>G p.R242G Substitution - Missense 1:247864912-247864912 + TCGA-AZ-4323-01 COSM425890 c.8G>C p.W3S Substitution - Missense 1:247857254-247857254 + ESCC_143 COSM5643940 c.1067C>A p.A356E Substitution - Missense 1:247876095-247876095 + YUWHIM COSM1690112 c.1133A>C p.E378A Substitution - Missense 1:247876161-247876161 + TCGA-F5-6814-01 COSM3419033 c.597G>A p.R199R Substitution - coding silent 1:247864785-247864785 + ESO-0079 COSM1268564 c.1404T>A p.N468K Substitution - Missense 1:247876432-247876432 + ESCC_35 COSM5628559 c.239A>G p.E80G Substitution - Missense 1:247857485-247857485 + TCGA-EI-6514-01 COSM680572 c.1084G>T p.V362F Substitution - Missense 1:247876112-247876112 + TCGA-BR-8680-01 COSM4030627 c.1319T>G p.F440C Substitution - Missense 1:247876347-247876347 + TCGA-FR-A3R1-01 COSM3486829 c.67C>T p.L23L Substitution - coding silent 1:247857313-247857313 + LUAD-S01346 COSM404315 c.899C>T p.A300V Substitution - Missense 1:247875927-247875927 + PT49 COSM5934447 c.757G>A p.G253R Substitution - Missense 1:247867854-247867854 + LUAD-S01482 COSM388355 c.1205T>A p.L402H Substitution - Missense 1:247876233-247876233 + TCGA-DC-6681-01 COSM425890 c.8G>C p.W3S Substitution - Missense 1:247857254-247857254 + 1946219 COSM1193009 c.1058delG p.G353fs*8 Deletion - Frameshift 1:247876086-247876086 + T98G COSM2232560 c.810C>T p.P270P Substitution - coding silent 1:247868002-247868002 + TCGA-06-0184-01 COSM907104 c.489C>T p.N163N Substitution - coding silent 1:247860685-247860685 + CSCC-55-T COSM229908 c.1420C>T p.H474Y Substitution - Missense 1:247876448-247876448 + TCGA-AM-5821-01 COSM3751093 c.468C>T p.D156D Substitution - coding silent 1:247860664-247860664 + HDC87 COSM4636894 c.1110G>T p.K370N Substitution - Missense 1:247876138-247876138 + TCGA-66-2793-01 COSM680584 c.705G>T p.E235D Substitution - Missense 1:247864893-247864893 + TCGA-GD-A3OS-01 COSM1296157 c.484G>A p.A162T Substitution - Missense 1:247860680-247860680 + ICC013T COSM5814117 c.646C>A p.R216R Substitution - coding silent 1:247864834-247864834 + TCGA-39-5031-01 COSM680576 c.908G>T p.S303I Substitution - Missense 1:247875936-247875936 + TCGA-F5-6813-01 COSM1560717 c.753G>C p.V251V Substitution - coding silent 1:247867850-247867850 + C089 COSM3486840 c.1268C>T p.S423L Substitution - Missense 1:247876296-247876296 + TCGA-ER-A19M-06 COSM3486841 c.1347C>T p.F449F Substitution - coding silent 1:247876375-247876375 + CHC892T COSM4798538 c.147C>T p.G49G Substitution - coding silent 1:247857393-247857393 + LUAD-B00416 COSM355355 c.1192C>A p.P398T Substitution - Missense 1:247876220-247876220 + RK308_C01 COSM3741176 c.1419T>C p.D473D Substitution - coding silent 1:247876447-247876447 + TCGA-A8-A0A6-01 COSM3804705 c.1072T>G p.W358G Substitution - Missense 1:247876100-247876100 + 13542 COSM680570 c.1218A>C p.E406D Substitution - Missense 1:247876246-247876246 + TCGA-EB-A4IS-01 COSM3486832 c.495G>A p.G165G Substitution - coding silent 1:247860691-247860691 + TCGA-66-2734-01 COSM680572 c.1084G>T p.V362F Substitution - Missense 1:247876112-247876112 + TCGA-21-1076-01 COSM680587 c.490G>T p.V164L Substitution - Missense 1:247860686-247860686 + 49M COSM680578 c.807C>T p.I269I Substitution - coding silent 1:247867999-247867999 + NB-1587 COSM1288627 c.192C>T p.F64F Substitution - coding silent 1:247857438-247857438 + Br11P COSM41147 c.1442T>C p.V481A Substitution - Missense 1:247876470-247876470 + LUAD-B02594 COSM356428 c.942G>T p.Q314H Substitution - Missense 1:247875970-247875970 + TCGA-EE-A2GO-06 COSM2232571 c.983G>A p.R328Q Substitution - Missense 1:247876011-247876011 + TCGA-AP-A059-01 COSM907107 c.724C>T p.R242C Substitution - Missense 1:247864912-247864912 + LUAD-B00416 COSM355354 c.771-1G>A p.? Unknown 1:247867962-247867962 + TCGA-GN-A26C-01 COSM3486840 c.1268C>T p.S423L Substitution - Missense 1:247876296-247876296 + TCGA-06-2565-01 COSM1341033 c.541C>T p.R181C Substitution - Missense 1:247864729-247864729 + TCGA-F5-6571-01 COSM425890 c.8G>C p.W3S Substitution - Missense 1:247857254-247857254 + HCC156 COSM3705727 c.844A>T p.R282W Substitution - Missense 1:247868036-247868036 + 060-0123-01TD COSM4166303 c.1030G>T p.G344W Substitution - Missense 1:247876058-247876058 + TCGA-36-1569-01 COSM119831 c.1444A>G p.R482G Substitution - Missense 1:247876472-247876472 + TCGA-AP-A051-01 COSM41522 c.931C>T p.R311C Substitution - Missense 1:247875959-247875959 + pfg059T COSM3771690 c.446T>G p.L149R Substitution - Missense 1:247860642-247860642 + LUAD-S01357 COSM386253 c.932G>T p.R311L Substitution - Missense 1:247875960-247875960 + 12 COSM1341031 c.166G>A p.A56T Substitution - Missense 1:247857412-247857412 + CRC-06T COSM5456335 c.630G>A p.A210A Substitution - coding silent 1:247864818-247864818 + SW1222 COSM4654710 c.94G>A p.G32S Substitution - Missense 1:247857340-247857340 + S00943 COSM115894 c.1103C>A p.P368Q Substitution - Missense 1:247876131-247876131 + HCC019T COSM5820344 c.695T>C p.L232P Substitution - Missense 1:247864883-247864883 + PT32 COSM5907181 c.1139G>A p.G380E Substitution - Missense 1:247876167-247876167 + TCGA-AP-A051-01 COSM907104 c.489C>T p.N163N Substitution - coding silent 1:247860685-247860685 + 8044180 COSM3386022 c.1122G>A p.T374T Substitution - coding silent 1:247876150-247876150 + YUFOR COSM110541 c.1114G>A p.E372K Substitution - Missense 1:247876142-247876142 + TCGA-BS-A0TA-01 COSM907113 c.1099C>T p.L367L Substitution - coding silent 1:247876127-247876127 + TCGA-60-2724-01 COSM680579 c.748G>T p.G250C Substitution - Missense 1:247867845-247867845 + 2492721 COSM5719524 c.961G>A p.D321N Substitution - Missense 1:247875989-247875989 + HF-23896 COSM1193009 c.1058delG p.G353fs*8 Deletion - Frameshift 1:247876086-247876086 + TCGA-EE-A29E-06 COSM110541 c.1114G>A p.E372K Substitution - Missense 1:247876142-247876142 + TCGA-EB-A431-01 COSM3486836 c.966C>T p.V322V Substitution - coding silent 1:247875994-247875994 + T3668 COSM4736175 c.1131T>G p.P377P Substitution - coding silent 1:247876159-247876159 + Pat_05_B COSM5846114 c.1127C>T p.S376F Substitution - Missense 1:247876155-247876155 + TCGA-AA-3516-01 COSM291641 c.908G>A p.S303N Substitution - Missense 1:247875936-247875936 + 409 COSM4430639 c.771-3C>A p.? Unknown 1:247867960-247867960 + HCT116 COSM1668649 c.958A>G p.R320G Substitution - Missense 1:247875986-247875986 + LUAD-CHTN-3090416 COSM357476 c.1076G>A p.G359D Substitution - Missense 1:247876104-247876104 + TCGA-CG-4436-01 COSM4030621 c.165C>T p.Y55Y Substitution - coding silent 1:247857411-247857411 + LUAD-B00915 COSM355716 c.610C>G p.L204V Substitution - Missense 1:247864798-247864798 + PD11393a COSM5773179 c.1334G>A p.R445Q Substitution - Missense 1:247876362-247876362 + TCGA-DK-A1AC-01 COSM1296159 c.933C>T p.R311R Substitution - coding silent 1:247875961-247875961 + T2940 COSM4736171 c.194G>A p.R65Q Substitution - Missense 1:247857440-247857440 + PD4002a COSM165141 c.1340A>C p.Y447S Substitution - Missense 1:247876368-247876368 + TCGA-19-5953-01 COSM404315 c.899C>T p.A300V Substitution - Missense 1:247875927-247875927 + BN40T COSM1602079 c.51G>T p.P17P Substitution - coding silent 1:247857297-247857297 + TCGA-DU-7306-01 COSM1341033 c.541C>T p.R181C Substitution - Missense 1:247864729-247864729 + YUNEKI COSM5380392 c.1183C>T p.L395F Substitution - Missense 1:247876211-247876211 + ME009T COSM222672 c.1058G>A p.G353E Substitution - Missense 1:247876086-247876086 + YUROG COSM5380394 c.1261G>A p.E421K Substitution - Missense 1:247876289-247876289 + RH30SJ_ COSM4985527 c.304G>A p.D102N Substitution - Missense 1:247857550-247857550 + HCC2998 COSM1668648 c.853C>T p.L285F Substitution - Missense 1:247868045-247868045 + TCGA-09-2056-01 COSM80678 c.1374G>A p.L458L Substitution - coding silent 1:247876402-247876402 + TCGA-AD-5900-01 COSM1341034 c.826G>A p.A276T Substitution - Missense 1:247868018-247868018 + C608 COSM2232566 c.922G>A p.A308T Substitution - Missense 1:247875950-247875950 + CHC2128T COSM4956816 c.1201C>T p.P401S Substitution - Missense 1:247876229-247876229 + P133 COSM41147 c.1442T>C p.V481A Substitution - Missense 1:247876470-247876470 + PCSI_0521_Pa_P_526 COSM5761806 c.265G>A p.A89T Substitution - Missense 1:247857511-247857511 + TCGA-G4-6299-01 COSM146852 c.1121C>T p.T374M Substitution - Missense 1:247876149-247876149 + 585260 COSM323994 c.974A>T p.N325I Substitution - Missense 1:247876002-247876002 + TCGA-63-6202-01 COSM680575 c.947G>C p.G316A Substitution - Missense 1:247875975-247875975 + HCC2998 COSM2232567 c.932G>A p.R311H Substitution - Missense 1:247875960-247875960 + CHC2128T COSM4956816 c.1201C>T p.P401S Substitution - Missense 1:247876229-247876229 + 587226 COSM1230372 c.531G>A p.M177I Substitution - Missense 1:247864719-247864719 + LUAD-RT-S01769 COSM380801 c.1034G>A p.R345K Substitution - Missense 1:247876062-247876062 + TCGA-CG-5726-01 COSM4030626 c.1287T>C p.D429D Substitution - coding silent 1:247876315-247876315 + Pat_66_A COSM5846115 c.1417G>A p.D473N Substitution - Missense 1:247876445-247876445 + 2334194 COSM41522 c.931C>T p.R311C Substitution - Missense 1:247875959-247875959 + YUPLA COSM5380395 c.1285G>A p.D429N Substitution - Missense 1:247876313-247876313 + LUAD-B00523 COSM355550 c.1258G>C p.G420R Substitution - Missense 1:247876286-247876286 + TCGA-AM-5820-01 COSM146852 c.1121C>T p.T374M Substitution - Missense 1:247876149-247876149 + CSCC-44-T COSM4571400 c.447T>C p.L149L Substitution - coding silent 1:247860643-247860643 + TCGA-24-2289-01 COSM117353 c.1315C>A p.L439I Substitution - Missense 1:247876343-247876343 + TCGA-AP-A051-01 COSM907111 c.982C>T p.R328* Substitution - Nonsense 1:247876010-247876010 + CSCC-60-T COSM4560882 c.860G>A p.R287K Substitution - Missense 1:247868052-247868052 + TCGA-D3-A51J-06 COSM3486835 c.957G>A p.W319* Substitution - Nonsense 1:247875985-247875985 + TCGA-E5-A2PC-01 COSM1296158 c.615G>A p.E205E Substitution - coding silent 1:247864803-247864803 + YUROL COSM5380389 c.22G>A p.E8K Substitution - Missense 1:247857268-247857268 + CSCC-11-T COSM4525581 c.133G>A p.E45K Substitution - Missense 1:247857379-247857379 + 8066497 COSM110541 c.1114G>A p.E372K Substitution - Missense 1:247876142-247876142 + PT21_2 COSM229908 c.1420C>T p.H474Y Substitution - Missense 1:247876448-247876448 + LP6005334-DNA_A04 COSM3771690 c.446T>G p.L149R Substitution - Missense 1:247860642-247860642 + BD55T COSM5509305 c.924C>T p.A308A Substitution - coding silent 1:247875952-247875952 + TCGA-E6-A1LZ-01 COSM907109 c.849G>A p.R283R Substitution - coding silent 1:247868041-247868041 + TCGA-29-1688-01 COSM1320269 c.1130C>T p.P377L Substitution - Missense 1:247876158-247876158 + CSCC-62-T COSM4504600 c.66C>T p.F22F Substitution - coding silent 1:247857312-247857312 + TCGA-B5-A11E-01 COSM907115 c.1229G>A p.C410Y Substitution - Missense 1:247876257-247876257 + CH-LA2 COSM4166303 c.1030G>T p.G344W Substitution - Missense 1:247876058-247876058 + HT115 COSM2232534 c.101G>A p.S34N Substitution - Missense 1:247857347-247857347 + S01578 COSM5670185 c.331G>T p.E111* Substitution - Nonsense 1:247857577-247857577 + PT32 COSM233647 c.1138G>A p.G380R Substitution - Missense 1:247876166-247876166 + 8047913 COSM3386021 c.698C>T p.A233V Substitution - Missense 1:247864886-247864886 + TCGA-BR-8367-01 COSM4030624 c.1234G>T p.G412W Substitution - Missense 1:247876262-247876262 + TCGA-FW-A3R5-06 COSM3865078 c.956G>A p.W319* Substitution - Nonsense 1:247875984-247875984 + TCGA-HU-A4H3-01 COSM3386021 c.698C>T p.A233V Substitution - Missense 1:247864886-247864886 + TCGA-O8-A75V-01 COSM4930596 c.280C>T p.R94W Substitution - Missense 1:247857526-247857526 + RMS66_ COSM4988215 c.398A>T p.Q133L Substitution - Missense 1:247857644-247857644 + TCGA-FW-A3R5-06 COSM3865077 c.861G>A p.R287R Substitution - coding silent 1:247868053-247868053 + 8067203 COSM907105 c.542G>A p.R181H Substitution - Missense 1:247864730-247864730 + TCGA-FW-A3R5-06 COSM3486842 c.1412C>T p.S471F Substitution - Missense 1:247876440-247876440 + CHC1602T COSM4789115 c.77C>A p.P26Q Substitution - Missense 1:247857323-247857323 + TCGA-22-4599-01 COSM680588 c.478C>A p.Q160K Substitution - Missense 1:247860674-247860674 + YUDIALE COSM1690115 c.1400G>A p.G467E Substitution - Missense 1:247876428-247876428 + TCGA-C5-A1ME-01 COSM4820643 c.1066G>T p.A356S Substitution - Missense 1:247876094-247876094 + 423 COSM4432457 c.953C>T p.P318L Substitution - Missense 1:247875981-247875981 + 24T COSM110046 c.1108A>T p.K370* Substitution - Nonsense 1:247876136-247876136 + S01366 COSM316164 c.571G>A p.G191S Substitution - Missense 1:247864759-247864759 + S02284 COSM5683962 c.745G>C p.E249Q Substitution - Missense 1:247864933-247864933 + YUGOE COSM1690114 c.1210C>T p.Q404* Substitution - Nonsense 1:247876238-247876238 + TCGA-BR-6452-01 COSM4030625 c.1273T>C p.Y425H Substitution - Missense 1:247876301-247876301 + LUAD-NYU408 COSM373970 c.1196C>A p.S399* Substitution - Nonsense 1:247876224-247876224 + LP6005500-DNA_A01 COSM4413638 c.1324G>T p.G442C Substitution - Missense 1:247876352-247876352 + TCGA-F4-6808-01 COSM1341036 c.1118C>T p.T373I Substitution - Missense 1:247876146-247876146 + cSCCP2 COSM137347 c.517-1G>A p.? Unknown 1:247864704-247864704 + LS411 COSM4646438 c.50C>T p.P17L Substitution - Missense 1:247857296-247857296 + TCGA-EE-A2GJ-06 COSM3865076 c.752T>G p.V251G Substitution - Missense 1:247867849-247867849 + 40M COSM4504600 c.66C>T p.F22F Substitution - coding silent 1:247857312-247857312 + LUAD-CHTN-MAD06-00668 COSM391302 c.1043delG p.E349fs*12 Deletion - Frameshift 1:247876071-247876071 + pfg160T COSM4764978 c.925G>T p.D309Y Substitution - Missense 1:247875953-247875953 + SS6003311 COSM3664883 c.790C>A p.L264M Substitution - Missense 1:247867982-247867982 + CCC2T COSM3705728 c.872-6C>G p.? Unknown 1:247875894-247875894 + TCGA-AP-A054-01 COSM907102 c.428T>C p.L143P Substitution - Missense 1:247860624-247860624 + PT42 COSM5924883 c.1064G>A p.G355E Substitution - Missense 1:247876092-247876092 + YUSCA COSM3865077 c.861G>A p.R287R Substitution - coding silent 1:247868053-247868053 + YUWAND COSM1690113 c.1187C>T p.A396V Substitution - Missense 1:247876215-247876215 + 951_T COSM3977436 c.813G>A p.M271I Substitution - Missense 1:247868005-247868005 + TCGA-BG-A0W2-01 COSM907110 c.891C>T p.P297P Substitution - coding silent 1:247875919-247875919 + CCC2 COSM3705728 c.872-6C>G p.? Unknown 1:247875894-247875894 + LUAD-LC15C COSM367860 c.507C>A p.V169V Substitution - coding silent 1:247860703-247860703 + BN40 COSM1602079 c.51G>T p.P17P Substitution - coding silent 1:247857297-247857297 + YUKADI COSM1690115 c.1400G>A p.G467E Substitution - Missense 1:247876428-247876428 + TCGA-F4-6569-01 COSM1341035 c.1086C>A p.V362V Substitution - coding silent 1:247876114-247876114 + TCGA-AX-A0J0-01 COSM907108 c.755G>T p.R252I Substitution - Missense 1:247867852-247867852 + C135 COSM404315 c.899C>T p.A300V Substitution - Missense 1:247875927-247875927 + CHC1602T COSM4789115 c.77C>A p.P26Q Substitution - Missense 1:247857323-247857323 + S01297 COSM5667331 c.592C>A p.Q198K Substitution - Missense 1:247864780-247864780 + PT49 COSM3977436 c.813G>A p.M271I Substitution - Missense 1:247868005-247868005 + TCGA-BP-4166-01 COSM3360793 c.1441G>C p.V481L Substitution - Missense 1:247876469-247876469 + YUSMI COSM5380391 c.1069G>A p.E357K Substitution - Missense 1:247876097-247876097 + YUAKER COSM110541 c.1114G>A p.E372K Substitution - Missense 1:247876142-247876142 + TCGA-85-6561-01 COSM680571 c.1171G>T p.E391* Substitution - Nonsense 1:247876199-247876199 + PD18749a COSM5795543 c.200C>T p.S67L Substitution - Missense 1:247857446-247857446 + KPOPBR-23-T COSM5963838 c.1374G>T p.L458F Substitution - Missense 1:247876402-247876402 + TCGA-DA-A1IC-06 COSM3486834 c.865T>C p.F289L Substitution - Missense 1:247868057-247868057 + CHC892T COSM4798538 c.147C>T p.G49G Substitution - coding silent 1:247857393-247857393 + TP_2001 COSM5565010 c.646C>T p.R216W Substitution - Missense 1:247864834-247864834 + 951_T COSM3977437 c.814G>A p.E272K Substitution - Missense 1:247868006-247868006 + TCGA-BS-A0UF-01 COSM907106 c.617C>T p.A206V Substitution - Missense 1:247864805-247864805 + HCT8 COSM2232544 c.549A>G p.R183R Substitution - coding silent 1:247864737-247864737 + HONE1 COSM4995429 c.1397C>A p.S466* Substitution - Nonsense 1:247876425-247876425 + PET100T COSM4963669 c.1161G>T p.L387L Substitution - coding silent 1:247876189-247876189 + 2492722 COSM5719523 c.432G>A p.Q144Q Substitution - coding silent 1:247860628-247860628 + TCGA-06-2565 COSM1341033 c.541C>T p.R181C Substitution - Missense 1:247864729-247864729 + TCGA-43-5668-01 COSM680580 c.748-2A>T p.? Unknown 1:247867843-247867843 + SNU-C4 COSM4652253 c.1038T>C p.H346H Substitution - coding silent 1:247876066-247876066 + YUWAND COSM222672 c.1058G>A p.G353E Substitution - Missense 1:247876086-247876086 + 2492723 COSM5719523 c.432G>A p.Q144Q Substitution - coding silent 1:247860628-247860628 + CLL109 COSM1290161 c.75G>A p.E25E Substitution - coding silent 1:247857321-247857321 + T3309 COSM4736174 c.898G>T p.A300S Substitution - Missense 1:247875926-247875926 + TCGA-EE-A2MR-06 COSM3486842 c.1412C>T p.S471F Substitution - Missense 1:247876440-247876440 + TCGA-FS-A1ZM-06 COSM3486841 c.1347C>T p.F449F Substitution - coding silent 1:247876375-247876375 + TCGA-ER-A19G-06 COSM2232542 c.526G>A p.E176K Substitution - Missense 1:247864714-247864714 + TCGA-CG-5726-01 COSM4030623 c.1148C>A p.A383D Substitution - Missense 1:247876176-247876176 + CSCC-27-T COSM4563125 c.95G>A p.G32D Substitution - Missense 1:247857341-247857341 + NOKSI COSM4595710 c.439C>G p.L147V Substitution - Missense 1:247860635-247860635 + TCGA-FU-A3HZ-01 COSM4840591 c.1369A>T p.I457F Substitution - Missense 1:247876397-247876397 + SC_9071 COSM1341031 c.166G>A p.A56T Substitution - Missense 1:247857412-247857412 + 2492721 COSM5719523 c.432G>A p.Q144Q Substitution - coding silent 1:247860628-247860628 + S01366 COSM316164 c.571G>A p.G191S Substitution - Missense 1:247864759-247864759 + LUAD-RT-S01709 COSM379809 c.1088G>T p.C363F Substitution - Missense 1:247876116-247876116 + TCGA-E2-A108-01 COSM425891 c.687G>A p.L229L Substitution - coding silent 1:247864875-247864875 + TCGA-AZ-6601-01 COSM1341039 c.1412C>A p.S471Y Substitution - Missense 1:247876440-247876440 + TCGA-33-4566-01 COSM680574 c.959G>T p.R320M Substitution - Missense 1:247875987-247875987 + 3030_T COSM3977433 c.425A>T p.K142M Substitution - Missense 1:247860621-247860621 + CSCC-57-T COSM110541 c.1114G>A p.E372K Substitution - Missense 1:247876142-247876142 + S00829 COSM5659846 c.611T>C p.L204P Substitution - Missense 1:247864799-247864799 + TCGA-FW-A3R5-06 COSM3865079 c.1075G>A p.G359S Substitution - Missense 1:247876103-247876103 + TCGA-CC-A3M9-01 COSM4928466 c.1060G>A p.E354K Substitution - Missense 1:247876088-247876088 + PT49 COSM3977437 c.814G>A p.E272K Substitution - Missense 1:247868006-247868006 + TCGA-ER-A194-01 COSM3486838 c.1113G>A p.G371G Substitution - coding silent 1:247876141-247876141 + 2492720 COSM5719523 c.432G>A p.Q144Q Substitution - coding silent 1:247860628-247860628 + CHC892T COSM4960150 c.726C>T p.R242R Substitution - coding silent 1:247864914-247864914 + ESCC_44 COSM4030623 c.1148C>A p.A383D Substitution - Missense 1:247876176-247876176 + LUAD-E00934 COSM403310 c.1223C>A p.P408H Substitution - Missense 1:247876251-247876251 + TCGA-OL-A5D6-01 COSM3804704 c.906G>A p.P302P Substitution - coding silent 1:247875934-247875934 + TCGA-EE-A29L-06 COSM3486837 c.1031G>A p.G344E Substitution - Missense 1:247876059-247876059 + BD72T COSM5511675 c.1336C>T p.P446S Substitution - Missense 1:247876364-247876364 + TCGA-CD-A4MG-01 COSM425892 c.896C>T p.T299M Substitution - Missense 1:247875924-247875924 + TCGA-G2-A2ES-01 COSM1296156 c.129C>T p.F43F Substitution - coding silent 1:247857375-247857375 + TCGA-D1-A17Q-01 COSM907103 c.457G>T p.E153* Substitution - Nonsense 1:247860653-247860653 + NCI-H209 COSM41522 c.931C>T p.R311C Substitution - Missense 1:247875959-247875959 + 587332 COSM1230373 c.1415G>T p.R472M Substitution - Missense 1:247876443-247876443 + YUMOBER COSM5380396 c.1333C>T p.R445W Substitution - Missense 1:247876361-247876361 + HDC82 COSM4636592 c.162C>G p.V54V Substitution - coding silent 1:247857408-247857408 + SS6003121 COSM4127657 c.1021T>C p.F341L Substitution - Missense 1:247876049-247876049 + ITNET_0100_T COSM4963669 c.1161G>T p.L387L Substitution - coding silent 1:247876189-247876189 + RK234_C01 COSM4945003 c.1226G>A p.R409H Substitution - Missense 1:247876254-247876254 + NB-0072 COSM1288628 c.834C>T p.C278C Substitution - coding silent 1:247868026-247868026 + TCGA-A5-A0G9-01 COSM907114 c.1151T>C p.L384P Substitution - Missense 1:247876179-247876179 + TCGA-CM-5861-01 COSM1341031 c.166G>A p.A56T Substitution - Missense 1:247857412-247857412 + HCT8 COSM4633667 c.911T>A p.L304Q Substitution - Missense 1:247875939-247875939 + TCGA-22-1016-01 COSM680573 c.1057G>A p.G353R Substitution - Missense 1:247876085-247876085 + LUAD-FH5PJ COSM403935 c.617C>A p.A206E Substitution - Missense 1:247864805-247864805 + ME049T COSM229908 c.1420C>T p.H474Y Substitution - Missense 1:247876448-247876448 + TCGA-IH-A3EA-01 COSM3486831 c.494G>A p.G165E Substitution - Missense 1:247860690-247860690 + pfg119T COSM4764979 c.936T>G p.S312R Substitution - Missense 1:247875964-247875964 + TCGA-E2-A15R-01 COSM425893 c.1082G>A p.G361E Substitution - Missense 1:247876110-247876110 + PD9065a COSM5769566 c.817C>A p.L273M Substitution - Missense 1:247868009-247868009 + ESCC_109 COSM5638802 c.1127C>A p.S376Y Substitution - Missense 1:247876155-247876155 + TCGA-A8-A08F-01 COSM425894 c.1239T>G p.I413M Substitution - Missense 1:247876267-247876267 + TCGA-AZ-4615-01 COSM3751094 c.729G>A p.P243P Substitution - coding silent 1:247864917-247864917 + YUOMEGA COSM3865077 c.861G>A p.R287R Substitution - coding silent 1:247868053-247868053 + YUDUTY COSM1690111 c.712G>A p.E238K Substitution - Missense 1:247864900-247864900 + TCGA-D9-A1JW-06 COSM3486845 c.1454A>T p.H485L Substitution - Missense 1:247876482-247876482 + S00022 COSM5656426 c.670C>T p.Q224* Substitution - Nonsense 1:247864858-247864858 + S02403 COSM5700320 c.580G>T p.A194S Substitution - Missense 1:247864768-247864768 + RK067_C01 COSM1626971 c.903delC p.P302fs*5 Deletion - Frameshift 1:247875931-247875931 + CHC892T COSM4960149 c.189C>T p.P63P Substitution - coding silent 1:247857435-247857435 + SS6003312 COSM3664883 c.790C>A p.L264M Substitution - Missense 1:247867982-247867982 + S02139 COSM5673952 c.699G>T p.A233A Substitution - coding silent 1:247864887-247864887 + PT44 COSM3486840 c.1268C>T p.S423L Substitution - Missense 1:247876296-247876296 + PTC-14C COSM4143638 c.170G>C p.C57S Substitution - Missense 1:247857416-247857416 + TCGA-25-1627-01 COSM115894 c.1103C>A p.P368Q Substitution - Missense 1:247876131-247876131 + CRC-03T COSM5451263 c.685C>T p.L229L Substitution - coding silent 1:247864873-247864873 + S01023 COSM5666326 c.1095C>A p.D365E Substitution - Missense 1:247876123-247876123 + TCGA-EE-A2MR-06 COSM222672 c.1058G>A p.G353E Substitution - Missense 1:247876086-247876086 + T2979 COSM4736176 c.1259G>T p.G420V Substitution - Missense 1:247876287-247876287 + 2492722 COSM2232553 c.690G>A p.K230K Substitution - coding silent 1:247864878-247864878 + TCGA-CC-A7IF-01 COSM4915413 c.502A>G p.T168A Substitution - Missense 1:247860698-247860698 + T3535 COSM4736172 c.338C>T p.A113V Substitution - Missense 1:247857584-247857584 + CHC892T COSM4960149 c.189C>T p.P63P Substitution - coding silent 1:247857435-247857435 + DLD1 COSM2232544 c.549A>G p.R183R Substitution - coding silent 1:247864737-247864737 + GC8_T COSM146852 c.1121C>T p.T374M Substitution - Missense 1:247876149-247876149 + SC_9016 COSM5563399 c.600G>T p.Q200H Substitution - Missense 1:247864788-247864788 + TCGA-BH-A0BP-01 COSM425892 c.896C>T p.T299M Substitution - Missense 1:247875924-247875924 + 2492720 COSM2232553 c.690G>A p.K230K Substitution - coding silent 1:247864878-247864878 + LUAD-YKER9 COSM388661 c.1047G>C p.E349D Substitution - Missense 1:247876075-247876075 + TCGA-66-2773-01 COSM680582 c.728C>T p.P243L Substitution - Missense 1:247864916-247864916 + YUMOKI COSM5380393 c.1216G>A p.E406K Substitution - Missense 1:247876244-247876244 + SW48 COSM4656154 c.198C>A p.P66P Substitution - coding silent 1:247857444-247857444 + PD9571a COSM5779395 c.1048G>C p.V350L Substitution - Missense 1:247876076-247876076 + 1T COSM109468 c.1371C>T p.I457I Substitution - coding silent 1:247876399-247876399 + LUAD-NYU408 COSM373969 c.1073G>A p.W358* Substitution - Nonsense 1:247876101-247876101 + HCT-116 COSM1668649 c.958A>G p.R320G Substitution - Missense 1:247875986-247875986 + LUAD-NYU1219 COSM369766 c.444A>G p.E148E Substitution - coding silent 1:247860640-247860640 + Pat_22_a COSM110541 c.1114G>A p.E372K Substitution - Missense 1:247876142-247876142 + TCGA-ER-A42K-06 COSM4894747 c.1366C>T p.L456F Substitution - Missense 1:247876394-247876394 + 3844_T COSM3977439 c.1432G>T p.A478S Substitution - Missense 1:247876460-247876460 + TCGA-EE-A2GD-06 COSM3486833 c.498A>C p.K166N Substitution - Missense 1:247860694-247860694 + TCGA-60-2708-01 COSM680570 c.1218A>C p.E406D Substitution - Missense 1:247876246-247876246 + HCC005T COSM41147 c.1442T>C p.V481A Substitution - Missense 1:247876470-247876470 + HCC2998 COSM1668648 c.853C>T p.L285F Substitution - Missense 1:247868045-247868045 + TCGA-43-6143-01 COSM680585 c.622G>T p.E208* Substitution - Nonsense 1:247864810-247864810 + TCGA-AH-6644-01 COSM425890 c.8G>C p.W3S Substitution - Missense 1:247857254-247857254 + 8067508 COSM3771690 c.446T>G p.L149R Substitution - Missense 1:247860642-247860642 + TCGA-BP-4345-01 COSM386253 c.932G>T p.R311L Substitution - Missense 1:247875960-247875960 + ESCC_143 COSM5643939 c.515A>T p.K172M Substitution - Missense 1:247860711-247860711 + S01453 COSM680582 c.728C>T p.P243L Substitution - Missense 1:247864916-247864916 + TCGA-BT-A3PK-01 COSM3789774 c.1403A>G p.N468S Substitution - Missense 1:247876431-247876431 + TCGA-A6-6780-01 COSM1341030 c.156C>T p.G52G Substitution - coding silent 1:247857402-247857402 + TCGA-FS-A4F0-06 COSM137347 c.517-1G>A p.? Unknown 1:247864704-247864704 + 8067246 COSM3771689 c.168C>A p.A56A Substitution - coding silent 1:247857414-247857414 + HCT15 COSM2232544 c.549A>G p.R183R Substitution - coding silent 1:247864737-247864737 + S00022 COSM316163 c.1393G>A p.G465R Substitution - Missense 1:247876421-247876421 + BD121T COSM907103 c.457G>T p.E153* Substitution - Nonsense 1:247860653-247860653 + YUOTHO COSM5380390 c.850G>A p.E284K Substitution - Missense 1:247868042-247868042 + PT17_1 COSM5898758 c.872-6C>T p.? Unknown 1:247875894-247875894 + TCGA-06-0184 COSM907104 c.489C>T p.N163N Substitution - coding silent 1:247860685-247860685 + 381_T COSM3977438 c.1073G>T p.W358L Substitution - Missense 1:247876101-247876101 + TCGA-AP-A0LM-01 COSM907105 c.542G>A p.R181H Substitution - Missense 1:247864730-247864730 +

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E406D c.1218A>C 1 248039548 LUSC A C Missense p.K166N c.498A>C 1 248023996 CM A C Missense p.Y447S c.1340A>C 1 248039670 BRCA A G Missense p.E197G c.590A>G 1 248028080 STAD A G Missense p.K167R c.500A>G 1 248023998 HNSC A G Missense p.K370R c.1109A>G 1 248039439 LUAD A G Missense p.N468S c.1403A>G 1 248039733 BLCA A G Missense p.R482G c.1444A>G 1 248039774 OV A T Missense p.E354D c.1062A>T 1 248039392 LUAD A T Missense p.H485L c.1454A>T 1 248039784 CM A T Missense p.N324I c.971A>T 1 248039301 LUAD A T Missense p.N325I c.974A>T 1 248039304 SCLC A T SpliceAcceptorSNV . c.748-2A>T 1 248031145 LUSC C A Missense p.A210E c.629C>A 1 248028119 HNSC C A Missense p.A228D c.683C>A 1 248028173 LUAD C A Missense p.A383D c.1148C>A 1 248039478 STAD C A Missense p.L439I c.1315C>A 1 248039645 OV C A Missense p.P368Q c.1103C>A 1 248039433 OV C A Missense p.P368Q c.1103C>A 1 248039433 SCLC C A Missense p.Q160K c.478C>A 1 248023976 LUSC CC AA Missense p.L255M c.762_763delinsAA 1 248031161 LUAD C - Frameshift p.A93Rfs*11 c.273delC 1 248020819 HNSC C - Frameshift p.H301Pfs*6 c.902delA 1 248039232 HC C G Nonsense p.Y434* c.1302C>G 1 248039632 LUAD C T Missense p.A300V c.899C>T 1 248039229 GBM C T Missense p.A464V c.1391C>T 1 248039721 LUSC C T Missense p.H474Y c.1420C>T 1 248039750 CM C T Missense p.P243L c.728C>T 1 248028218 LUSC C T Missense p.P302L c.905C>T 1 248039235 GBM C T Missense p.P398S c.1192C>T 1 248039522 LGG C T Missense p.P477S c.1429C>T 1 248039759 CM C T Missense p.R181C c.541C>T 1 248028031 GBM C T Missense p.R181C c.541C>T 1 248028031 LGG C T Missense p.R311C c.931C>T 1 248039261 SCLC C T Missense p.S343L c.1028C>T 1 248039358 LUAD C T Missense p.S423L c.1268C>T 1 248039598 CM C T Missense p.T299M c.896C>T 1 248039226 BRCA C T Nonsense p.Q224* c.670C>T 1 248028160 CM C T Synonymous p.F43F c.129C>T 1 248020677 BLCA C T Synonymous p.F64F c.192C>T 1 248020740 NB C T Synonymous p.N163N c.489C>T 1 248023987 GBM C T Synonymous p.Y55Y c.165C>T 1 248020713 STAD G A Missense p.A162T c.484G>A 1 248023982 BLCA G A Missense p.A308T c.922G>A 1 248039252 LUAD G A Missense p.D480N c.1438G>A 1 248039768 CM G A Missense p.E148K c.442G>A 1 248023940 CM G A Missense p.E176K c.526G>A 1 248028016 CM G A Missense p.E217K c.649G>A 1 248028139 CM G A Missense p.E372K c.1114G>A 1 248039444 CM G A Missense p.G165E c.494G>A 1 248023992 CM G A Missense p.G191S c.571G>A 1 248028061 SCLC G A Missense p.G281E c.842G>A 1 248031336 CM G A Missense p.G344E c.1031G>A 1 248039361 CM G A Missense p.G353E c.1058G>A 1 248039388 CM G A Missense p.G353R c.1057G>A 1 248039387 LUSC G A Missense p.G361E c.1082G>A 1 248039412 BRCA G A Missense p.G371R c.1111G>A 1 248039441 CM G A Missense p.G420S c.1258G>A 1 248039588 HNSC G A Missense p.G465R c.1393G>A 1 248039723 SCLC G A Missense p.G467E c.1400G>A 1 248039730 CM G A Missense p.M271I c.813G>A 1 248031307 CM G A Missense p.R181H c.542G>A 1 248028032 LGG G A Missense p.R328Q c.983G>A 1 248039313 CM G A Missense p.V29M c.85G>A 1 248020633 LUAD G A Nonsense p.W358* c.1074G>A 1 248039404 LUAD G A Synonymous p.A206A c.618G>A 1 248028108 HNSC G A Synonymous p.E196E c.588G>A 1 248028078 LUAD G A Synonymous p.E205E c.615G>A 1 248028105 BLCA G A Synonymous p.E25E c.75G>A 1 248020623 CLL G A Synonymous p.L229L c.687G>A 1 248028177 BRCA G C Missense p.E185Q c.553G>C 1 248028043 HNSC G C Missense p.G316A c.947G>C 1 248039277 LUSC G C Missense p.V481L c.1441G>C 1 248039771 RCCC G - Frameshift p.A93Rfs*11 c.277delG 1 248020822 STAD G T Missense p.A266S c.796G>T 1 248031290 LUAD G T Missense p.D296Y c.886G>T 1 248039216 HNSC G T Missense p.E153D c.459G>T 1 248023957 SCLC G T Missense p.E235D c.705G>T 1 248028195 LUSC G T Missense p.G250C c.748G>T 1 248031147 LUSC G T Missense p.R311L c.932G>T 1 248039262 RCCC G T Missense p.S303I c.908G>T 1 248039238 LUSC G T Missense p.V164L c.490G>T 1 248023988 LUSC G T Missense p.V291L c.871G>T 1 248031365 STAD G T Missense p.V362F c.1084G>T 1 248039414 LUSC G T Nonsense p.E207* c.619G>T 1 248028109 LUAD G T Nonsense p.E208* c.622G>T 1 248028112 LUSC G T Nonsense p.E391* c.1171G>T 1 248039501 LUSC G T Nonsense p.E406* c.1216G>T 1 248039546 PAAD T A Missense p.L222Q c.665T>A 1 248028155 HNSC T A Missense p.N468K c.1404T>A 1 248039734 ESCA T C Missense p.F289L c.865T>C 1 248031359 CM T C Missense p.L143P c.428T>C 1 248023926 UCEC T C Missense p.L215P c.644T>C 1 248028134 LUAD T C Missense p.V481A c.1442T>C 1 248039772 GBM TG CT Missense p.L222P c.665_666delinsCT 1 248028155 LUAD T G Missense p.F69V c.205T>G 1 248020753 ESCA T G Missense p.I413M c.1239T>G 1 248039569 BRCA T G Missense p.V251G c.752T>G 1 248031151 CM T G Synonymous p.A260A c.780T>G 1 248031274 CM