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 20 55033420 55033420 + Missense_Mutation SNP C C T TCGA-OR-A5JK-01A-11D-A29I-10 TCGA-OR-A5JK-10A-01D-A29L-10 g.chr20:55033420C>T c.1978C>T c.(1978-1980)Cct>Tct p.P660S BLCA 20 55012585 55012585 + Silent SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 g.chr20:55012585C>T c.402C>T c.(400-402)ccC>ccT p.P134P BLCA 20 55026884 55026884 + Missense_Mutation SNP G G A TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr20:55026884G>A c.652G>A c.(652-654)Gtt>Att p.V218I BLCA 20 55026997 55026997 + Silent SNP C C G TCGA-XF-AAMR-01A-31D-A42E-08 TCGA-XF-AAMR-10A-01D-A42H-08 g.chr20:55026997C>G c.765C>G c.(763-765)gtC>gtG p.V255V BLCA 20 55027048 55027048 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr20:55027048C>G c.816C>G c.(814-816)ctC>ctG p.L272L BLCA 20 55027352 55027352 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr20:55027352G>C c.1120G>C c.(1120-1122)Gag>Cag p.E374Q BLCA 20 55033555 55033555 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr20:55033555C>T c.2113C>T c.(2113-2115)Cag>Tag p.Q705* BRCA 20 55021046 55021046 + Missense_Mutation SNP G G A TCGA-E9-A229-01A-31D-A17G-09 TCGA-E9-A229-10B-01D-A159-09 g.chr20:55021046G>A c.550G>A c.(550-552)Gtg>Atg p.V184M BRCA 20 55026946 55026946 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr20:55026946G>C c.714G>C c.(712-714)caG>caC p.Q238H BRCA 20 55027016 55027016 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr20:55027016A>G c.784A>G c.(784-786)Agc>Ggc p.S262G BRCA 20 55027302 55027302 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr20:55027302C>T c.1070C>T c.(1069-1071)tCg>tTg p.S357L BRCA 20 55027880 55027880 + Missense_Mutation SNP G G T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr20:55027880G>T c.1648G>T c.(1648-1650)Gac>Tac p.D550Y CESC 20 55012265 55012265 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr20:55012265G>A c.82G>A c.(82-84)Gac>Aac p.D28N CESC 20 55027331 55027331 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 g.chr20:55027331G>C c.1099G>C c.(1099-1101)Gag>Cag p.E367Q CHOL 20 55033541 55033541 + Missense_Mutation SNP C C T TCGA-W5-AA2I-01A-32D-A417-09 TCGA-W5-AA2I-10A-01D-A41A-09 g.chr20:55033541C>T c.2099C>T c.(2098-2100)gCg>gTg p.A700V COAD 20 55012282 55012282 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr20:55012282C>T c.99C>T c.(97-99)agC>agT p.S33S COAD 20 55012577 55012577 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:55012577G>T c.394G>T c.(394-396)Gaa>Taa p.E132* COAD 20 55012629 55012629 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr20:55012629G>A c.446G>A c.(445-447)aGc>aAc p.S149N COAD 20 55020983 55020983 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr20:55020983C>T c.487C>T c.(487-489)Cgg>Tgg p.R163W COAD 20 55026992 55026992 + Missense_Mutation SNP A A G TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr20:55026992A>G c.760A>G c.(760-762)Agc>Ggc p.S254G COAD 20 55026992 55026992 + Missense_Mutation SNP A A G TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr20:55026992A>G c.760A>G c.(760-762)Agc>Ggc p.S254G COAD 20 55027360 55027360 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr20:55027360C>T c.1128C>T c.(1126-1128)tcC>tcT p.S376S COAD 20 55027412 55027412 + Missense_Mutation SNP G G C TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr20:55027412G>C c.1180G>C c.(1180-1182)Gaa>Caa p.E394Q COAD 20 55027440 55027440 + Missense_Mutation SNP C C G TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr20:55027440C>G c.1208C>G c.(1207-1209)tCt>tGt p.S403C COAD 20 55027486 55027486 + Silent SNP C C T TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr20:55027486C>T c.1254C>T c.(1252-1254)acC>acT p.T418T COAD 20 55027595 55027595 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr20:55027595G>A c.1363G>A c.(1363-1365)Gtc>Atc p.V455I COAD 20 55027706 55027706 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr20:55027706G>A c.1474G>A c.(1474-1476)Gaa>Aaa p.E492K COAD 20 55027725 55027725 + Missense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr20:55027725G>A c.1493G>A c.(1492-1494)cGa>cAa p.R498Q COAD 20 55027781 55027781 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr20:55027781C>T c.1549C>T c.(1549-1551)Cgg>Tgg p.R517W COAD 20 55027781 55027781 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr20:55027781C>T c.1549C>T c.(1549-1551)Cgg>Tgg p.R517W COAD 20 55027855 55027855 + Missense_Mutation SNP T T A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr20:55027855T>A c.1623T>A c.(1621-1623)aaT>aaA p.N541K COAD 20 55028060 55028060 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:55028060A>G c.1828A>G c.(1828-1830)Aaa>Gaa p.K610E COAD 20 55033484 55033484 + Missense_Mutation SNP G G T TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr20:55033484G>T c.2042G>T c.(2041-2043)gGg>gTg p.G681V COAD 20 55033507 55033507 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:55033507G>A c.2065G>A c.(2065-2067)Gca>Aca p.A689T COAD 20 55033540 55033540 + Missense_Mutation SNP G G A TCGA-AA-A004-01A-01W-A00E-09 TCGA-AA-A004-10A-01W-A00E-09 g.chr20:55033540G>A c.2098G>A c.(2098-2100)Gcg>Acg p.A700T COAD 20 55033584 55033585 + Frame_Shift_Ins INS - - A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr20:55033584_55033585insA c.2142_2143insA c.(2143-2145)aagfs p.K715fs COAD 20 55033621 55033621 + Missense_Mutation SNP A A G TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr20:55033621A>G c.2179A>G c.(2179-2181)Agg>Ggg p.R727G COADREAD 20 55012282 55012282 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr20:55012282C>T c.99C>T c.(97-99)agC>agT p.S33S COADREAD 20 55012440 55012440 + Missense_Mutation SNP G G T TCGA-AG-3598-01A-01W-0833-10 TCGA-AG-3598-10A-01W-0833-10 g.chr20:55012440G>T c.257G>T c.(256-258)gGc>gTc p.G86V COADREAD 20 55012468 55012468 + Silent SNP G G A TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr20:55012468G>A c.285G>A c.(283-285)gaG>gaA p.E95E COADREAD 20 55012577 55012577 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:55012577G>T c.394G>T c.(394-396)Gaa>Taa p.E132* COADREAD 20 55012629 55012629 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr20:55012629G>A c.446G>A c.(445-447)aGc>aAc p.S149N COADREAD 20 55020983 55020983 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr20:55020983C>T c.487C>T c.(487-489)Cgg>Tgg p.R163W COADREAD 20 55026992 55026992 + Missense_Mutation SNP A A G TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr20:55026992A>G c.760A>G c.(760-762)Agc>Ggc p.S254G COADREAD 20 55026992 55026992 + Missense_Mutation SNP A A G TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr20:55026992A>G c.760A>G c.(760-762)Agc>Ggc p.S254G COADREAD 20 55027360 55027360 + Silent SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr20:55027360C>T c.1128C>T c.(1126-1128)tcC>tcT p.S376S COADREAD 20 55027412 55027412 + Missense_Mutation SNP G G C TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr20:55027412G>C c.1180G>C c.(1180-1182)Gaa>Caa p.E394Q COADREAD 20 55027440 55027440 + Missense_Mutation SNP C C G TCGA-DM-A28H-01A-11D-A16V-10 TCGA-DM-A28H-10A-01D-A16V-10 g.chr20:55027440C>G c.1208C>G c.(1207-1209)tCt>tGt p.S403C COADREAD 20 55027486 55027486 + Silent SNP C C T TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr20:55027486C>T c.1254C>T c.(1252-1254)acC>acT p.T418T COADREAD 20 55027595 55027595 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr20:55027595G>A c.1363G>A c.(1363-1365)Gtc>Atc p.V455I COADREAD 20 55027706 55027706 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr20:55027706G>A c.1474G>A c.(1474-1476)Gaa>Aaa p.E492K COADREAD 20 55027725 55027725 + Missense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr20:55027725G>A c.1493G>A c.(1492-1494)cGa>cAa p.R498Q COADREAD 20 55027781 55027781 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr20:55027781C>T c.1549C>T c.(1549-1551)Cgg>Tgg p.R517W COADREAD 20 55027781 55027781 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr20:55027781C>T c.1549C>T c.(1549-1551)Cgg>Tgg p.R517W COADREAD 20 55027855 55027855 + Missense_Mutation SNP T T A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr20:55027855T>A c.1623T>A c.(1621-1623)aaT>aaA p.N541K COADREAD 20 55027937 55027937 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:55027937C>A c.1705C>A c.(1705-1707)Ctt>Att p.L569I COADREAD 20 55028060 55028060 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:55028060A>G c.1828A>G c.(1828-1830)Aaa>Gaa p.K610E COADREAD 20 55033484 55033484 + Missense_Mutation SNP G G T TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr20:55033484G>T c.2042G>T c.(2041-2043)gGg>gTg p.G681V COADREAD 20 55033507 55033507 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr20:55033507G>A c.2065G>A c.(2065-2067)Gca>Aca p.A689T COADREAD 20 55033540 55033540 + Missense_Mutation SNP G G A TCGA-AA-A004-01A-01W-A00E-09 TCGA-AA-A004-10A-01W-A00E-09 g.chr20:55033540G>A c.2098G>A c.(2098-2100)Gcg>Acg p.A700T COADREAD 20 55033584 55033585 + Frame_Shift_Ins INS - - A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr20:55033584_55033585insA c.2142_2143insA c.(2143-2145)aagfs p.K715fs COADREAD 20 55033621 55033621 + Missense_Mutation SNP A A G TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr20:55033621A>G c.2179A>G c.(2179-2181)Agg>Ggg p.R727G DLBC 20 55027509 55027509 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr20:55027509C>T c.1277C>T c.(1276-1278)tCg>tTg p.S426L ESCA 20 55012496 55012496 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr20:55012496C>T c.313C>T c.(313-315)Cgc>Tgc p.R105C ESCA 20 55012570 55012570 + Silent SNP A A G TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr20:55012570A>G c.387A>G c.(385-387)caA>caG p.Q129Q ESCA 20 55012582 55012582 + Frame_Shift_Del DEL C C - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 g.chr20:55012582delC c.399delC c.(397-399)ttcfs p.F133fs ESCA 20 55027029 55027029 + Missense_Mutation SNP A A G TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 g.chr20:55027029A>G c.797A>G c.(796-798)gAa>gGa p.E266G ESCA 20 55027468 55027468 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr20:55027468G>A c.1236G>A c.(1234-1236)tcG>tcA p.S412S ESCA 20 55027698 55027698 + Missense_Mutation SNP C C T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr20:55027698C>T c.1466C>T c.(1465-1467)tCt>tTt p.S489F GBM 20 55021057 55021057 + Splice_Site SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 g.chr20:55021057G>A c.561G>A c.(559-561)aaG>aaA p.K187K GBM 20 55027872 55027872 + Missense_Mutation SNP T T C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 g.chr20:55027872T>C c.1640T>C c.(1639-1641)cTt>cCt p.L547P GBM 20 55033502 55033502 + Missense_Mutation SNP T T A TCGA-27-2524-01A-01D-1494-08 TCGA-27-2524-10A-01D-1494-08 g.chr20:55033502T>A c.2060T>A c.(2059-2061)aTc>aAc p.I687N GBMLGG 20 55021057 55021057 + Splice_Site SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 g.chr20:55021057G>A c.561G>A c.(559-561)aaG>aaA p.K187K GBMLGG 20 55027547 55027547 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 g.chr20:55027547G>A c.1315G>A c.(1315-1317)Gtg>Atg p.V439M GBMLGG 20 55027795 55027795 + Missense_Mutation SNP G G T TCGA-FG-A711-01A-21D-A33T-08 TCGA-FG-A711-10A-01D-A33W-08 g.chr20:55027795G>T c.1563G>T c.(1561-1563)caG>caT p.Q521H GBMLGG 20 55027872 55027872 + Missense_Mutation SNP T T C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 g.chr20:55027872T>C c.1640T>C c.(1639-1641)cTt>cCt p.L547P GBMLGG 20 55033502 55033502 + Missense_Mutation SNP T T A TCGA-27-2524-01A-01D-1494-08 TCGA-27-2524-10A-01D-1494-08 g.chr20:55033502T>A c.2060T>A c.(2059-2061)aTc>aAc p.I687N HNSC 20 55012398 55012398 + Missense_Mutation SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr20:55012398C>A c.215C>A c.(214-216)aCg>aAg p.T72K HNSC 20 55012464 55012464 + Nonsense_Mutation SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr20:55012464C>A c.281C>A c.(280-282)tCa>tAa p.S94* HNSC 20 55012466 55012466 + Missense_Mutation SNP G G C TCGA-F7-8298-01A-11D-2394-08 TCGA-F7-8298-10A-01D-2394-08 g.chr20:55012466G>C c.283G>C c.(283-285)Gag>Cag p.E95Q HNSC 20 55020994 55020994 + Silent SNP G G A TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr20:55020994G>A c.498G>A c.(496-498)ctG>ctA p.L166L HNSC 20 55026880 55026880 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 g.chr20:55026880G>T c.648G>T c.(646-648)caG>caT p.Q216H HNSC 20 55027486 55027486 + Silent SNP C C T TCGA-F7-A620-01A-11D-A28R-08 TCGA-F7-A620-10A-01D-A28U-08 g.chr20:55027486C>T c.1254C>T c.(1252-1254)acC>acT p.T418T KIPAN 20 55026927 55026927 + Missense_Mutation SNP G G T TCGA-SX-A71V-01A-11D-A33Q-10 TCGA-SX-A71V-10A-01D-A33Q-10 g.chr20:55026927G>T c.695G>T c.(694-696)aGc>aTc p.S232I KIPAN 20 55027381 55027381 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr20:55027381G>A c.1149G>A c.(1147-1149)tgG>tgA p.W383* KIPAN 20 55028020 55028020 + Missense_Mutation SNP G G C TCGA-UZ-A9PO-01A-11D-A382-10 TCGA-UZ-A9PO-10A-01D-A385-10 g.chr20:55028020G>C c.1788G>C c.(1786-1788)gaG>gaC p.E596D KIPAN 20 55033659 55033659 + Missense_Mutation SNP C C A TCGA-GL-A59R-01A-11D-A26P-10 TCGA-GL-A59R-10A-01D-A26P-10 g.chr20:55033659C>A c.2217C>A c.(2215-2217)caC>caA p.H739Q KIRC 20 55027381 55027381 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr20:55027381G>A c.1149G>A c.(1147-1149)tgG>tgA p.W383* KIRP 20 55026927 55026927 + Missense_Mutation SNP G G T TCGA-SX-A71V-01A-11D-A33Q-10 TCGA-SX-A71V-10A-01D-A33Q-10 g.chr20:55026927G>T c.695G>T c.(694-696)aGc>aTc p.S232I KIRP 20 55028020 55028020 + Missense_Mutation SNP G G C TCGA-UZ-A9PO-01A-11D-A382-10 TCGA-UZ-A9PO-10A-01D-A385-10 g.chr20:55028020G>C c.1788G>C c.(1786-1788)gaG>gaC p.E596D KIRP 20 55033659 55033659 + Missense_Mutation SNP C C A TCGA-GL-A59R-01A-11D-A26P-10 TCGA-GL-A59R-10A-01D-A26P-10 g.chr20:55033659C>A c.2217C>A c.(2215-2217)caC>caA p.H739Q LGG 20 55027547 55027547 + Missense_Mutation SNP G G A TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 g.chr20:55027547G>A c.1315G>A c.(1315-1317)Gtg>Atg p.V439M LGG 20 55027795 55027795 + Missense_Mutation SNP G G T TCGA-FG-A711-01A-21D-A33T-08 TCGA-FG-A711-10A-01D-A33W-08 g.chr20:55027795G>T c.1563G>T c.(1561-1563)caG>caT p.Q521H LIHC 20 55025670 55025670 + Frame_Shift_Del DEL C C - TCGA-ZP-A9D0-01A-11D-A36X-10 TCGA-ZP-A9D0-10A-01D-A370-10 g.chr20:55025670delC c.577delC c.(577-579)cagfs p.Q193fs LIHC 20 55025710 55025710 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr20:55025710T>C c.617T>C c.(616-618)cTc>cCc p.L206P LIHC 20 55027580 55027580 + Nonsense_Mutation SNP A A T TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr20:55027580A>T c.1348A>T c.(1348-1350)Aag>Tag p.K450* LIHC 20 55027971 55027971 + Missense_Mutation SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr20:55027971T>C c.1739T>C c.(1738-1740)gTc>gCc p.V580A LUAD 20 55012264 55012264 + Silent SNP T T A TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr20:55012264T>A c.81T>A c.(79-81)tcT>tcA p.S27S LUAD 20 55012273 55012273 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr20:55012273G>T c.90G>T c.(88-90)ctG>ctT p.L30L LUAD 20 55012296 55012296 + Missense_Mutation SNP T T C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 g.chr20:55012296T>C c.113T>C c.(112-114)cTg>cCg p.L38P LUAD 20 55012297 55012297 + Silent SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 g.chr20:55012297G>T c.114G>T c.(112-114)ctG>ctT p.L38L LUAD 20 55012503 55012503 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr20:55012503C>A c.320C>A c.(319-321)cCc>cAc p.P107H LUAD 20 55012553 55012553 + Missense_Mutation SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 g.chr20:55012553C>A c.370C>A c.(370-372)Cag>Aag p.Q124K LUAD 20 55020975 55020975 + Missense_Mutation SNP G G T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr20:55020975G>T c.479G>T c.(478-480)aGa>aTa p.R160I LUAD 20 55020994 55020994 + Silent SNP G G A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr20:55020994G>A c.498G>A c.(496-498)ctG>ctA p.L166L LUAD 20 55021021 55021021 + Missense_Mutation SNP C C A TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr20:55021021C>A c.525C>A c.(523-525)gaC>gaA p.D175E LUAD 20 55025690 55025690 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr20:55025690C>A c.597C>A c.(595-597)gcC>gcA p.A199A LUAD 20 55025718 55025718 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 g.chr20:55025718C>A c.625C>A c.(625-627)Cca>Aca p.P209T LUAD 20 55026874 55026874 + Splice_Site SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr20:55026874G>T c.e6-1 LUAD 20 55026919 55026919 + Silent SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr20:55026919C>T c.687C>T c.(685-687)ggC>ggT p.G229G LUAD 20 55026995 55026995 + Missense_Mutation SNP G G A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr20:55026995G>A c.763G>A c.(763-765)Gtc>Atc p.V255I LUAD 20 55027043 55027043 + Missense_Mutation SNP G G C TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr20:55027043G>C c.811G>C c.(811-813)Gct>Cct p.A271P LUAD 20 55027049 55027049 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr20:55027049C>A c.817C>A c.(817-819)Ccc>Acc p.P273T LUAD 20 55027050 55027050 + Missense_Mutation SNP C C A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr20:55027050C>A c.818C>A c.(817-819)cCc>cAc p.P273H LUAD 20 55027050 55027050 + Missense_Mutation SNP C C A TCGA-97-8172-01A-11D-2284-08 TCGA-97-8172-10A-01D-2284-08 g.chr20:55027050C>A c.818C>A c.(817-819)cCc>cAc p.P273H LUAD 20 55027161 55027161 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr20:55027161C>T c.929C>T c.(928-930)cCt>cTt p.P310L LUAD 20 55027266 55027266 + Missense_Mutation SNP C C A TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr20:55027266C>A c.1034C>A c.(1033-1035)aCc>aAc p.T345N LUAD 20 55027328 55027328 + Missense_Mutation SNP C C A TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chr20:55027328C>A c.1096C>A c.(1096-1098)Ctg>Atg p.L366M LUAD 20 55027392 55027392 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr20:55027392G>T c.1160G>T c.(1159-1161)cGg>cTg p.R387L LUAD 20 55027404 55027404 + Missense_Mutation SNP C C A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr20:55027404C>A c.1172C>A c.(1171-1173)cCa>cAa p.P391Q LUAD 20 55027543 55027543 + Silent SNP G G T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr20:55027543G>T c.1311G>T c.(1309-1311)ctG>ctT p.L437L LUAD 20 55027579 55027579 + Missense_Mutation SNP C C A TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chr20:55027579C>A c.1347C>A c.(1345-1347)caC>caA p.H449Q LUAD 20 55027604 55027604 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr20:55027604C>A c.1372C>A c.(1372-1374)Ctg>Atg p.L458M LUAD 20 55027672 55027672 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr20:55027672C>A c.1440C>A c.(1438-1440)caC>caA p.H480Q LUAD 20 55027954 55027954 + Missense_Mutation SNP G G T TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr20:55027954G>T c.1722G>T c.(1720-1722)aaG>aaT p.K574N LUAD 20 55027988 55027988 + Missense_Mutation SNP C C A TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr20:55027988C>A c.1756C>A c.(1756-1758)Ctc>Atc p.L586I LUAD 20 55028100 55028100 + Missense_Mutation SNP A A G TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr20:55028100A>G c.1868A>G c.(1867-1869)cAa>cGa p.Q623R LUAD 20 55033415 55033415 + Missense_Mutation SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr20:55033415C>T c.1973C>T c.(1972-1974)cCt>cTt p.P658L LUAD 20 55033432 55033432 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr20:55033432C>A c.1990C>A c.(1990-1992)Cag>Aag p.Q664K LUAD 20 55033539 55033539 + Silent SNP C C T TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr20:55033539C>T c.2097C>T c.(2095-2097)ccC>ccT p.P699P LUAD 20 55033542 55033542 + Frame_Shift_Del DEL G G - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr20:55033542delG c.2100delG c.(2098-2100)gcgfs p.A700fs LUAD 20 55033543 55033543 + Missense_Mutation SNP G G A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr20:55033543G>A c.2101G>A c.(2101-2103)Gag>Aag p.E701K LUAD 20 55033677 55033677 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr20:55033677G>T c.2235G>T c.(2233-2235)aaG>aaT p.K745N LUAD 20 55033749 55033749 + Silent SNP G G A TCGA-78-7149-01A-11D-2036-08 TCGA-78-7149-10A-01D-2036-08 g.chr20:55033749G>A c.2307G>A c.(2305-2307)gcG>gcA p.A769A LUSC 20 55026901 55026901 + Silent SNP G G A TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr20:55026901G>A c.669G>A c.(667-669)gtG>gtA p.V223V LUSC 20 55027043 55027043 + Missense_Mutation SNP G G T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr20:55027043G>T c.811G>T c.(811-813)Gct>Tct p.A271S LUSC 20 55027069 55027069 + Missense_Mutation SNP C C A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr20:55027069C>A c.837C>A c.(835-837)ttC>ttA p.F279L LUSC 20 55027084 55027084 + Silent SNP T T C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr20:55027084T>C c.852T>C c.(850-852)agT>agC p.S284S LUSC 20 55027180 55027180 + Silent SNP A A T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr20:55027180A>T c.948A>T c.(946-948)gtA>gtT p.V316V LUSC 20 55027547 55027547 + Missense_Mutation SNP G G A TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr20:55027547G>A c.1315G>A c.(1315-1317)Gtg>Atg p.V439M LUSC 20 55027721 55027721 + Missense_Mutation SNP G G T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr20:55027721G>T c.1489G>T c.(1489-1491)Gcc>Tcc p.A497S LUSC 20 55027781 55027782 + Missense_Mutation DNP CG CG TT TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 g.chr20:55027781_55027782CG>TT c.1549_1550CG>TT c.(1549-1551)CGg>TTg p.R517L LUSC 20 55027803 55027803 + Missense_Mutation SNP C C A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr20:55027803C>A c.1571C>A c.(1570-1572)tCc>tAc p.S524Y LUSC 20 55027876 55027876 + Silent SNP G G A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr20:55027876G>A c.1644G>A c.(1642-1644)gtG>gtA p.V548V LUSC 20 55027972 55027972 + Silent SNP C C T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr20:55027972C>T c.1740C>T c.(1738-1740)gtC>gtT p.V580V LUSC 20 55033731 55033731 + Silent SNP G G T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr20:55033731G>T c.2289G>T c.(2287-2289)gcG>gcT p.A763A LUSC 20 55033756 55033756 + Missense_Mutation SNP G G A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr20:55033756G>A c.2314G>A c.(2314-2316)Gag>Aag p.E772K LUSC 20 55033790 55033790 + Missense_Mutation SNP G G C TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr20:55033790G>C c.2348G>C c.(2347-2349)gGg>gCg p.G783A OV 20 55026992 55026992 + Missense_Mutation SNP A A T TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 g.chr20:55026992A>T c.760A>T c.(760-762)Agc>Tgc p.S254C OV 20 55033485 55033485 + Silent SNP G G A TCGA-13-1484-01A-01W-0545-08 TCGA-13-1484-10A-01W-0545-08 g.chr20:55033485G>A c.2043G>A c.(2041-2043)ggG>ggA p.G681G OV 20 55033506 55033506 + Silent SNP C C T TCGA-61-1911-01A-01W-0639-09 TCGA-61-1911-11A-01W-0640-09 g.chr20:55033506C>T c.2064C>T c.(2062-2064)agC>agT p.S688S PAAD 20 55012332 55012332 + Missense_Mutation SNP G G T TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chr20:55012332G>T c.149G>T c.(148-150)gGt>gTt p.G50V PAAD 20 55027901 55027901 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:55027901G>T c.1669G>T c.(1669-1671)Gat>Tat p.D557Y PAAD 20 55033569 55033569 + Silent SNP C C T TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 g.chr20:55033569C>T c.2127C>T c.(2125-2127)gtC>gtT p.V709V READ 20 55012440 55012440 + Missense_Mutation SNP G G T TCGA-AG-3598-01A-01W-0833-10 TCGA-AG-3598-10A-01W-0833-10 g.chr20:55012440G>T c.257G>T c.(256-258)gGc>gTc p.G86V READ 20 55012468 55012468 + Silent SNP G G A TCGA-AG-A01W-01A-21W-A096-10 TCGA-AG-A01W-11A-11W-A096-10 g.chr20:55012468G>A c.285G>A c.(283-285)gaG>gaA p.E95E READ 20 55027937 55027937 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr20:55027937C>A c.1705C>A c.(1705-1707)Ctt>Att p.L569I SKCM 20 55012333 55012333 + Silent SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr20:55012333T>C c.150T>C c.(148-150)ggT>ggC p.G50G SKCM 20 55012393 55012393 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr20:55012393C>T c.210C>T c.(208-210)atC>atT p.I70I SKCM 20 55012399 55012399 + Silent SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr20:55012399G>A c.216G>A c.(214-216)acG>acA p.T72T SKCM 20 55012399 55012399 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr20:55012399G>A c.216G>A c.(214-216)acG>acA p.T72T SKCM 20 55012445 55012445 + Missense_Mutation SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 g.chr20:55012445G>A c.262G>A c.(262-264)Gaa>Aaa p.E88K SKCM 20 55012536 55012536 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 g.chr20:55012536G>A c.353G>A c.(352-354)aGt>aAt p.S118N SKCM 20 55012539 55012539 + Missense_Mutation SNP G G T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr20:55012539G>T c.356G>T c.(355-357)tGg>tTg p.W119L SKCM 20 55012582 55012582 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr20:55012582C>T c.399C>T c.(397-399)ttC>ttT p.F133F SKCM 20 55012584 55012584 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:55012584C>T c.401C>T c.(400-402)cCc>cTc p.P134L SKCM 20 55012585 55012585 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr20:55012585C>T c.402C>T c.(400-402)ccC>ccT p.P134P SKCM 20 55012616 55012616 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:55012616G>A c.433G>A c.(433-435)Gaa>Aaa p.E145K SKCM 20 55020983 55020983 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr20:55020983C>T c.487C>T c.(487-489)Cgg>Tgg p.R163W SKCM 20 55026876 55026876 + Splice_Site SNP G G A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr20:55026876G>A c.644G>A c.(643-645)gGg>gAg p.G215E SKCM 20 55026888 55026888 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr20:55026888C>T c.656C>T c.(655-657)cCc>cTc p.P219L SKCM 20 55026928 55026928 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr20:55026928C>T c.696C>T c.(694-696)agC>agT p.S232S SKCM 20 55027037 55027037 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr20:55027037C>T c.805C>T c.(805-807)Ccc>Tcc p.P269S SKCM 20 55027160 55027160 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr20:55027160C>T c.928C>T c.(928-930)Cct>Tct p.P310S SKCM 20 55027196 55027196 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr20:55027196C>T c.964C>T c.(964-966)Cct>Tct p.P322S SKCM 20 55027196 55027196 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr20:55027196C>T c.964C>T c.(964-966)Cct>Tct p.P322S SKCM 20 55027236 55027236 + Missense_Mutation SNP T T A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr20:55027236T>A c.1004T>A c.(1003-1005)tTt>tAt p.F335Y SKCM 20 55027248 55027248 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr20:55027248G>A c.1016G>A c.(1015-1017)cGa>cAa p.R339Q SKCM 20 55027248 55027248 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr20:55027248G>A c.1016G>A c.(1015-1017)cGa>cAa p.R339Q SKCM 20 55027271 55027271 + Missense_Mutation SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr20:55027271C>T c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S SKCM 20 55027325 55027325 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr20:55027325G>A c.1093G>A c.(1093-1095)Gag>Aag p.E365K SKCM 20 55027342 55027342 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr20:55027342G>A c.1110G>A c.(1108-1110)aaG>aaA p.K370K SKCM 20 55027362 55027362 + Missense_Mutation SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr20:55027362C>T c.1130C>T c.(1129-1131)gCg>gTg p.A377V SKCM 20 55027387 55027387 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:55027387C>T c.1155C>T c.(1153-1155)tcC>tcT p.S385S SKCM 20 55027409 55027409 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 g.chr20:55027409C>T c.1177C>T c.(1177-1179)Cct>Tct p.P393S SKCM 20 55027464 55027464 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:55027464C>T c.1232C>T c.(1231-1233)tCc>tTc p.S411F SKCM 20 55027511 55027511 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr20:55027511G>A c.1279G>A c.(1279-1281)Gag>Aag p.E427K SKCM 20 55027537 55027537 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr20:55027537G>A c.1305G>A c.(1303-1305)ttG>ttA p.L435L SKCM 20 55027732 55027732 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 g.chr20:55027732C>T c.1500C>T c.(1498-1500)gtC>gtT p.V500V SKCM 20 55027835 55027835 + Missense_Mutation SNP G G A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr20:55027835G>A c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K SKCM 20 55027835 55027835 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr20:55027835G>A c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K SKCM 20 55027865 55027865 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:55027865G>A c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K SKCM 20 55027872 55027872 + Missense_Mutation SNP T T C TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr20:55027872T>C c.1640T>C c.(1639-1641)cTt>cCt p.L547P SKCM 20 55028054 55028054 + Missense_Mutation SNP T T A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr20:55028054T>A c.1822T>A c.(1822-1824)Tgt>Agt p.C608S SKCM 20 55028076 55028076 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr20:55028076C>T c.1844C>T c.(1843-1845)cCc>cTc p.P615L SKCM 20 55028128 55028128 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr20:55028128G>A c.1896G>A c.(1894-1896)agG>agA p.R632R SKCM 20 55033445 55033445 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr20:55033445G>A c.2003G>A c.(2002-2004)aGg>aAg p.R668K SKCM 20 55033446 55033446 + Silent SNP G G A TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr20:55033446G>A c.2004G>A c.(2002-2004)agG>agA p.R668R SKCM 20 55033678 55033678 + Missense_Mutation SNP G G T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 g.chr20:55033678G>T c.2236G>T c.(2236-2238)Gac>Tac p.D746Y SKCM 20 55033727 55033727 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr20:55033727C>T c.2285C>T c.(2284-2286)gCc>gTc p.A762V SKCM 20 55033749 55033749 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr20:55033749G>A c.2307G>A c.(2305-2307)gcG>gcA p.A769A SKCM 20 55033749 55033749 + Silent SNP G G A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr20:55033749G>A c.2307G>A c.(2305-2307)gcG>gcA p.A769A SKCM 20 55033750 55033750 + Missense_Mutation SNP G G A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr20:55033750G>A c.2308G>A c.(2308-2310)Gag>Aag p.E770K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 20 55025661 55025661 single base substitution G A exon_variant BLCA-CN 20 55025661 55025661 single base substitution G A missense_variant E190K 568G>A BLCA-US 20 55027048 55027048 single base substitution C G exon_variant BLCA-US 20 55027048 55027048 single base substitution C G intron_variant BLCA-US 20 55027048 55027048 single base substitution C G synonymous_variant L272L 816C>G BLCA-US 20 55033555 55033555 single base substitution C T downstream_gene_variant BLCA-US 20 55033555 55033555 single base substitution C T stop_gained Q268* 802C>T BLCA-US 20 55033555 55033555 single base substitution C T stop_gained Q705* 2113C>T BRCA-EU 20 54982741 54982741 single base substitution C T upstream_gene_variant BRCA-EU 20 54983357 54983357 single base substitution G A upstream_gene_variant BRCA-EU 20 54983477 54983477 single base substitution A G upstream_gene_variant BRCA-EU 20 54984158 54984158 single base substitution C T upstream_gene_variant BRCA-EU 20 54985957 54985957 single base substitution C G upstream_gene_variant BRCA-EU 20 54986769 54986769 single base substitution G C upstream_gene_variant BRCA-EU 20 54987911 54987911 single base substitution T C intron_variant BRCA-EU 20 54989822 54989822 single base substitution G A intron_variant BRCA-EU 20 54992077 54992077 single base substitution G A intron_variant BRCA-EU 20 54992562 54992562 single base substitution G A intron_variant BRCA-EU 20 54992728 54992728 single base substitution G A intron_variant BRCA-EU 20 54993063 54993063 single base substitution G A intron_variant BRCA-EU 20 54993275 54993275 single base substitution G A intron_variant BRCA-EU 20 54993321 54993321 single base substitution G A intron_variant BRCA-EU 20 54994441 54994441 single base substitution G A intron_variant BRCA-EU 20 54996146 54996146 single base substitution T A intron_variant BRCA-EU 20 54996300 54996300 insertion of <=200bp - AAACTA intron_variant BRCA-EU 20 54997507 54997507 single base substitution G A intron_variant BRCA-EU 20 54997595 54997595 insertion of <=200bp - A intron_variant BRCA-EU 20 54997825 54997825 single base substitution G A intron_variant BRCA-EU 20 54998271 54998271 deletion of <=200bp T - intron_variant BRCA-EU 20 54999118 54999118 single base substitution A G intron_variant BRCA-EU 20 54999855 54999855 single base substitution G A intron_variant BRCA-EU 20 55000296 55000296 single base substitution A G intron_variant BRCA-EU 20 55001536 55001536 single base substitution T A intron_variant BRCA-EU 20 55002675 55002675 single base substitution G A intron_variant BRCA-EU 20 55003517 55003517 single base substitution T C intron_variant BRCA-EU 20 55004028 55004028 single base substitution G C intron_variant BRCA-EU 20 55006119 55006119 single base substitution G C intron_variant BRCA-EU 20 55006121 55006121 single base substitution G A intron_variant BRCA-EU 20 55007181 55007181 single base substitution G A intron_variant BRCA-EU 20 55007372 55007372 deletion of <=200bp A - intron_variant BRCA-EU 20 55009172 55009172 single base substitution G C intron_variant BRCA-EU 20 55009584 55009584 single base substitution C A intron_variant BRCA-EU 20 55010181 55010181 single base substitution G A intron_variant BRCA-EU 20 55010198 55010198 single base substitution G A intron_variant BRCA-EU 20 55011801 55011801 single base substitution G A intron_variant BRCA-EU 20 55011916 55011916 single base substitution C T intron_variant BRCA-EU 20 55011930 55011930 single base substitution G A intron_variant BRCA-EU 20 55011942 55011942 single base substitution C G intron_variant BRCA-EU 20 55012423 55012423 insertion of <=200bp - C exon_variant BRCA-EU 20 55012423 55012423 insertion of <=200bp - C frameshift_variant C80C? BRCA-EU 20 55012748 55012748 single base substitution C T intron_variant BRCA-EU 20 55012909 55012909 single base substitution G A intron_variant BRCA-EU 20 55015097 55015098 deletion of <=200bp AA - intron_variant BRCA-EU 20 55015372 55015374 deletion of <=200bp AAC - intron_variant BRCA-EU 20 55015713 55015713 single base substitution G A intron_variant BRCA-EU 20 55015720 55015720 single base substitution G C intron_variant BRCA-EU 20 55016928 55016928 single base substitution C G intron_variant BRCA-EU 20 55017640 55017640 single base substitution T A intron_variant BRCA-EU 20 55018874 55018874 single base substitution G C intron_variant BRCA-EU 20 55019112 55019112 single base substitution G T intron_variant BRCA-EU 20 55020290 55020290 insertion of <=200bp - C intron_variant BRCA-EU 20 55021124 55021124 single base substitution C T intron_variant BRCA-EU 20 55021554 55021554 single base substitution G C intron_variant BRCA-EU 20 55021599 55021599 insertion of <=200bp - T intron_variant BRCA-EU 20 55022213 55022213 single base substitution G C intron_variant BRCA-EU 20 55022907 55022907 single base substitution G A intron_variant BRCA-EU 20 55023462 55023462 single base substitution C T intron_variant BRCA-EU 20 55024440 55024440 single base substitution T A intron_variant BRCA-EU 20 55024466 55024466 single base substitution G C intron_variant BRCA-EU 20 55025051 55025051 single base substitution C G intron_variant BRCA-EU 20 55025111 55025111 single base substitution G T intron_variant BRCA-EU 20 55025112 55025112 single base substitution A T intron_variant BRCA-EU 20 55025237 55025237 single base substitution G A intron_variant BRCA-EU 20 55025524 55025524 single base substitution C G intron_variant BRCA-EU 20 55025747 55025747 single base substitution G C intron_variant BRCA-EU 20 55027135 55027135 single base substitution G C exon_variant BRCA-EU 20 55027135 55027135 single base substitution G C intron_variant BRCA-EU 20 55027135 55027135 single base substitution G C missense_variant Q301H 903G>C BRCA-EU 20 55027798 55027798 single base substitution C G exon_variant BRCA-EU 20 55027798 55027798 single base substitution C G intron_variant BRCA-EU 20 55027798 55027798 single base substitution C G synonymous_variant T522T 1566C>G BRCA-EU 20 55028729 55028729 single base substitution G A exon_variant BRCA-EU 20 55028729 55028729 single base substitution G A intron_variant BRCA-EU 20 55030599 55030599 single base substitution G C downstream_gene_variant BRCA-EU 20 55030599 55030599 single base substitution G C intron_variant BRCA-EU 20 55031745 55031745 single base substitution A G downstream_gene_variant BRCA-EU 20 55031745 55031745 single base substitution A G intron_variant BRCA-EU 20 55032321 55032321 single base substitution G A downstream_gene_variant BRCA-EU 20 55032321 55032321 single base substitution G A intron_variant BRCA-EU 20 55032575 55032575 single base substitution T C downstream_gene_variant BRCA-EU 20 55032575 55032575 single base substitution T C intron_variant BRCA-EU 20 55032637 55032637 single base substitution A G downstream_gene_variant BRCA-EU 20 55032637 55032637 single base substitution A G intron_variant BRCA-EU 20 55032716 55032716 deletion of <=200bp T - downstream_gene_variant BRCA-EU 20 55032716 55032716 deletion of <=200bp T - intron_variant BRCA-EU 20 55034526 55034526 single base substitution G T downstream_gene_variant BRCA-EU 20 55035980 55035980 single base substitution G A downstream_gene_variant BRCA-EU 20 55037129 55037129 single base substitution G A downstream_gene_variant BRCA-EU 20 55038132 55038132 single base substitution C T downstream_gene_variant BRCA-EU 20 55039343 55039343 single base substitution G T downstream_gene_variant BRCA-FR 20 54983357 54983357 single base substitution G A upstream_gene_variant BRCA-FR 20 54984801 54984801 single base substitution C A upstream_gene_variant BRCA-FR 20 54986769 54986769 single base substitution G C upstream_gene_variant BRCA-FR 20 54997507 54997507 single base substitution G A intron_variant BRCA-FR 20 54999855 54999855 single base substitution G A intron_variant BRCA-FR 20 55002061 55002061 single base substitution A G intron_variant BRCA-FR 20 55007929 55007929 single base substitution G A intron_variant BRCA-FR 20 55009584 55009584 single base substitution C A intron_variant BRCA-FR 20 55011930 55011930 single base substitution G A intron_variant BRCA-FR 20 55011942 55011942 single base substitution C G intron_variant BRCA-FR 20 55012909 55012909 single base substitution G A intron_variant BRCA-FR 20 55019112 55019112 single base substitution G T intron_variant BRCA-FR 20 55019686 55019686 single base substitution C A intron_variant BRCA-FR 20 55022213 55022213 single base substitution G C intron_variant BRCA-FR 20 55028729 55028729 single base substitution G A exon_variant BRCA-FR 20 55028729 55028729 single base substitution G A intron_variant BRCA-UK 20 55003517 55003517 single base substitution T C intron_variant BRCA-UK 20 55015357 55015357 single base substitution G T intron_variant BRCA-US 20 55021046 55021046 single base substitution G A exon_variant BRCA-US 20 55021046 55021046 single base substitution G A missense_variant V184M 550G>A BRCA-US 20 55026946 55026946 single base substitution G C exon_variant BRCA-US 20 55026946 55026946 single base substitution G C intron_variant BRCA-US 20 55026946 55026946 single base substitution G C missense_variant Q238H 714G>C BRCA-US 20 55027016 55027016 single base substitution A G exon_variant BRCA-US 20 55027016 55027016 single base substitution A G intron_variant BRCA-US 20 55027016 55027016 single base substitution A G missense_variant S262G 784A>G BRCA-US 20 55027302 55027302 single base substitution C T exon_variant BRCA-US 20 55027302 55027302 single base substitution C T intron_variant BRCA-US 20 55027302 55027302 single base substitution C T missense_variant S357L 1070C>T BRCA-US 20 55027880 55027880 single base substitution G T exon_variant BRCA-US 20 55027880 55027880 single base substitution G T intron_variant BRCA-US 20 55027880 55027880 single base substitution G T missense_variant D550Y 1648G>T BTCA-JP 20 55027577 55027577 single base substitution C G exon_variant BTCA-JP 20 55027577 55027577 single base substitution C G intron_variant BTCA-JP 20 55027577 55027577 single base substitution C G missense_variant H449D 1345C>G BTCA-JP 20 55028298 55028298 single base substitution G T exon_variant BTCA-JP 20 55028298 55028298 single base substitution G T intron_variant CESC-US 20 55012265 55012265 single base substitution G A exon_variant CESC-US 20 55012265 55012265 single base substitution G A missense_variant D28N 82G>A CESC-US 20 55027331 55027331 single base substitution G C exon_variant CESC-US 20 55027331 55027331 single base substitution G C intron_variant CESC-US 20 55027331 55027331 single base substitution G C missense_variant E367Q 1099G>C CESC-US 20 55035354 55035354 single base substitution C T downstream_gene_variant CLLE-ES 20 54987241 54987241 single base substitution C A 5_prime_UTR_variant CLLE-ES 20 54987241 54987241 single base substitution C A upstream_gene_variant CLLE-ES 20 55000252 55000252 single base substitution C T intron_variant CLLE-ES 20 55002182 55002182 single base substitution A G intron_variant CLLE-ES 20 55033680 55033680 single base substitution C T downstream_gene_variant CLLE-ES 20 55033680 55033680 single base substitution C T synonymous_variant D309D 927C>T CLLE-ES 20 55033680 55033680 single base substitution C T synonymous_variant D746D 2238C>T CLLE-ES 20 55033778 55033778 single base substitution G A downstream_gene_variant CLLE-ES 20 55033778 55033778 single base substitution G A missense_variant R342Q 1025G>A CLLE-ES 20 55033778 55033778 single base substitution G A missense_variant R779Q 2336G>A COAD-US 20 55012282 55012282 single base substitution C T exon_variant COAD-US 20 55012282 55012282 single base substitution C T synonymous_variant S33S 99C>T COAD-US 20 55012577 55012577 single base substitution G T exon_variant COAD-US 20 55012577 55012577 single base substitution G T stop_gained E132* 394G>T COAD-US 20 55027360 55027360 single base substitution C T exon_variant COAD-US 20 55027360 55027360 single base substitution C T intron_variant COAD-US 20 55027360 55027360 single base substitution C T synonymous_variant S376S 1128C>T COAD-US 20 55027412 55027412 single base substitution G C exon_variant COAD-US 20 55027412 55027412 single base substitution G C intron_variant COAD-US 20 55027412 55027412 single base substitution G C missense_variant E394Q 1180G>C COAD-US 20 55027440 55027440 single base substitution C G exon_variant COAD-US 20 55027440 55027440 single base substitution C G intron_variant COAD-US 20 55027440 55027440 single base substitution C G missense_variant S403C 1208C>G COAD-US 20 55027486 55027486 single base substitution C T exon_variant COAD-US 20 55027486 55027486 single base substitution C T intron_variant COAD-US 20 55027486 55027486 single base substitution C T synonymous_variant T418T 1254C>T COAD-US 20 55027595 55027595 single base substitution G A exon_variant COAD-US 20 55027595 55027595 single base substitution G A intron_variant COAD-US 20 55027595 55027595 single base substitution G A missense_variant V455I 1363G>A COAD-US 20 55027725 55027725 single base substitution G A exon_variant COAD-US 20 55027725 55027725 single base substitution G A intron_variant COAD-US 20 55027725 55027725 single base substitution G A missense_variant R498Q 1493G>A COAD-US 20 55027781 55027781 single base substitution C T exon_variant COAD-US 20 55027781 55027781 single base substitution C T intron_variant COAD-US 20 55027781 55027781 single base substitution C T missense_variant R517W 1549C>T COAD-US 20 55027855 55027855 single base substitution T A exon_variant COAD-US 20 55027855 55027855 single base substitution T A intron_variant COAD-US 20 55027855 55027855 single base substitution T A missense_variant N541K 1623T>A COAD-US 20 55028060 55028060 single base substitution A G exon_variant COAD-US 20 55028060 55028060 single base substitution A G intron_variant COAD-US 20 55028060 55028060 single base substitution A G missense_variant K610E 1828A>G COAD-US 20 55028167 55028167 single base substitution G A exon_variant COAD-US 20 55028167 55028167 single base substitution G A intron_variant COAD-US 20 55028167 55028167 single base substitution G A synonymous_variant R645R 1935G>A COAD-US 20 55033476 55033476 single base substitution C G downstream_gene_variant COAD-US 20 55033476 55033476 single base substitution C G synonymous_variant L241L 723C>G COAD-US 20 55033476 55033476 single base substitution C G synonymous_variant L678L 2034C>G COAD-US 20 55033507 55033507 single base substitution G A downstream_gene_variant COAD-US 20 55033507 55033507 single base substitution G A missense_variant A252T 754G>A COAD-US 20 55033507 55033507 single base substitution G A missense_variant A689T 2065G>A COAD-US 20 55033584 55033584 insertion of <=200bp - A downstream_gene_variant COAD-US 20 55033584 55033584 insertion of <=200bp - A frameshift_variant Q277Q? COAD-US 20 55033584 55033584 insertion of <=200bp - A frameshift_variant Q714Q? COAD-US 20 55033635 55033635 single base substitution C T downstream_gene_variant COAD-US 20 55033635 55033635 single base substitution C T synonymous_variant N294N 882C>T COAD-US 20 55033635 55033635 single base substitution C T synonymous_variant N731N 2193C>T COAD-US 20 55033713 55033713 single base substitution G A downstream_gene_variant COAD-US 20 55033713 55033713 single base substitution G A synonymous_variant T320T 960G>A COAD-US 20 55033713 55033713 single base substitution G A synonymous_variant T757T 2271G>A COCA-CN 20 55012316 55012316 single base substitution G A exon_variant COCA-CN 20 55012316 55012316 single base substitution G A missense_variant V45M 133G>A COCA-CN 20 55020917 55020917 single base substitution A G intron_variant COCA-CN 20 55021021 55021021 single base substitution C T exon_variant COCA-CN 20 55021021 55021021 single base substitution C T synonymous_variant D175D 525C>T COCA-CN 20 55025635 55025635 single base substitution C T intron_variant COCA-CN 20 55027303 55027303 single base substitution G A exon_variant COCA-CN 20 55027303 55027303 single base substitution G A intron_variant COCA-CN 20 55027303 55027303 single base substitution G A synonymous_variant S357S 1071G>A COCA-CN 20 55027354 55027354 single base substitution G T exon_variant COCA-CN 20 55027354 55027354 single base substitution G T intron_variant COCA-CN 20 55027354 55027354 single base substitution G T missense_variant E374D 1122G>T COCA-CN 20 55027665 55027665 single base substitution C T exon_variant COCA-CN 20 55027665 55027665 single base substitution C T intron_variant COCA-CN 20 55027665 55027665 single base substitution C T missense_variant A478V 1433C>T COCA-CN 20 55027900 55027900 single base substitution A G exon_variant COCA-CN 20 55027900 55027900 single base substitution A G intron_variant COCA-CN 20 55027900 55027900 single base substitution A G synonymous_variant P556P 1668A>G COCA-CN 20 55028349 55028349 single base substitution C A exon_variant COCA-CN 20 55028349 55028349 single base substitution C A intron_variant COCA-CN 20 55033421 55033421 single base substitution C A downstream_gene_variant COCA-CN 20 55033421 55033421 single base substitution C A missense_variant P223H 668C>A COCA-CN 20 55033421 55033421 single base substitution C A missense_variant P660H 1979C>A COCA-CN 20 55033731 55033731 single base substitution G A downstream_gene_variant COCA-CN 20 55033731 55033731 single base substitution G A synonymous_variant A326A 978G>A COCA-CN 20 55033731 55033731 single base substitution G A synonymous_variant A763A 2289G>A COCA-CN 20 55033749 55033749 single base substitution G A downstream_gene_variant COCA-CN 20 55033749 55033749 single base substitution G A synonymous_variant A332A 996G>A COCA-CN 20 55033749 55033749 single base substitution G A synonymous_variant A769A 2307G>A ESAD-UK 20 54982873 54982873 single base substitution G A upstream_gene_variant ESAD-UK 20 54985770 54985770 single base substitution G A upstream_gene_variant ESAD-UK 20 54986317 54986317 single base substitution C T upstream_gene_variant ESAD-UK 20 54986495 54986495 single base substitution C T upstream_gene_variant ESAD-UK 20 54987605 54987605 single base substitution T A intron_variant ESAD-UK 20 54988615 54988615 single base substitution G C intron_variant ESAD-UK 20 54989320 54989320 single base substitution G T intron_variant ESAD-UK 20 54990786 54990786 single base substitution C T intron_variant ESAD-UK 20 54991856 54991856 single base substitution C A intron_variant ESAD-UK 20 54992650 54992650 single base substitution T A intron_variant ESAD-UK 20 54993450 54993450 single base substitution A T intron_variant ESAD-UK 20 54996720 54996720 single base substitution C A intron_variant ESAD-UK 20 54998050 54998050 single base substitution A T intron_variant ESAD-UK 20 54998856 54998856 single base substitution G A intron_variant ESAD-UK 20 55001602 55001602 deletion of <=200bp T - intron_variant ESAD-UK 20 55001614 55001614 insertion of <=200bp - CTT intron_variant ESAD-UK 20 55001646 55001646 single base substitution C T intron_variant ESAD-UK 20 55001804 55001804 single base substitution T A intron_variant ESAD-UK 20 55001870 55001870 single base substitution A C intron_variant ESAD-UK 20 55002428 55002428 single base substitution C T intron_variant ESAD-UK 20 55002898 55002898 single base substitution T A intron_variant ESAD-UK 20 55004786 55004786 single base substitution C G intron_variant ESAD-UK 20 55006786 55006786 single base substitution C G intron_variant ESAD-UK 20 55006904 55006904 single base substitution C A intron_variant ESAD-UK 20 55008540 55008540 single base substitution G A intron_variant ESAD-UK 20 55008856 55008856 single base substitution G A intron_variant ESAD-UK 20 55010049 55010049 single base substitution T G intron_variant ESAD-UK 20 55010180 55010180 single base substitution C T intron_variant ESAD-UK 20 55011120 55011120 single base substitution C T intron_variant ESAD-UK 20 55011431 55011432 deletion of <=200bp TA - intron_variant ESAD-UK 20 55011479 55011479 single base substitution C T intron_variant ESAD-UK 20 55011690 55011690 single base substitution A C intron_variant ESAD-UK 20 55012944 55012944 single base substitution G A intron_variant ESAD-UK 20 55013834 55013834 single base substitution A C intron_variant ESAD-UK 20 55014534 55014534 single base substitution C G intron_variant ESAD-UK 20 55014581 55014581 single base substitution A C intron_variant ESAD-UK 20 55017439 55017439 single base substitution C T intron_variant ESAD-UK 20 55018322 55018322 single base substitution G C intron_variant ESAD-UK 20 55018328 55018328 single base substitution A C intron_variant ESAD-UK 20 55018926 55018926 single base substitution A G intron_variant ESAD-UK 20 55019148 55019148 single base substitution C T intron_variant ESAD-UK 20 55020380 55020380 single base substitution A C intron_variant ESAD-UK 20 55020425 55020425 single base substitution T C intron_variant ESAD-UK 20 55020773 55020773 single base substitution C T intron_variant ESAD-UK 20 55020838 55020838 single base substitution C A intron_variant ESAD-UK 20 55020966 55020966 single base substitution C T exon_variant ESAD-UK 20 55020966 55020966 single base substitution C T missense_variant T157M 470C>T ESAD-UK 20 55021008 55021008 single base substitution C T exon_variant ESAD-UK 20 55021008 55021008 single base substitution C T missense_variant S171F 512C>T ESAD-UK 20 55021021 55021021 single base substitution C T exon_variant ESAD-UK 20 55021021 55021021 single base substitution C T synonymous_variant D175D 525C>T ESAD-UK 20 55022502 55022502 single base substitution G T intron_variant ESAD-UK 20 55022951 55022951 single base substitution C T intron_variant ESAD-UK 20 55024740 55024740 insertion of <=200bp - A intron_variant ESAD-UK 20 55024865 55024865 single base substitution G A intron_variant ESAD-UK 20 55025042 55025042 single base substitution C T intron_variant ESAD-UK 20 55025212 55025212 single base substitution C T intron_variant ESAD-UK 20 55026704 55026704 single base substitution G A intron_variant ESAD-UK 20 55026775 55026775 single base substitution C A intron_variant ESAD-UK 20 55027460 55027460 single base substitution G A exon_variant ESAD-UK 20 55027460 55027460 single base substitution G A intron_variant ESAD-UK 20 55027460 55027460 single base substitution G A missense_variant V410I 1228G>A ESAD-UK 20 55027803 55027803 single base substitution C A exon_variant ESAD-UK 20 55027803 55027803 single base substitution C A intron_variant ESAD-UK 20 55027803 55027803 single base substitution C A missense_variant S524Y 1571C>A ESAD-UK 20 55027980 55027980 single base substitution A G exon_variant ESAD-UK 20 55027980 55027980 single base substitution A G intron_variant ESAD-UK 20 55027980 55027980 single base substitution A G missense_variant N583S 1748A>G ESAD-UK 20 55028369 55028386 deletion of <=200bp AGATAGGTCAGCATAGGC - exon_variant ESAD-UK 20 55028369 55028386 deletion of <=200bp AGATAGGTCAGCATAGGC - intron_variant ESAD-UK 20 55028640 55028640 single base substitution T C exon_variant ESAD-UK 20 55028640 55028640 single base substitution T C intron_variant ESAD-UK 20 55030190 55030190 single base substitution A T downstream_gene_variant ESAD-UK 20 55030190 55030190 single base substitution A T intron_variant ESAD-UK 20 55030252 55030252 single base substitution G T downstream_gene_variant ESAD-UK 20 55030252 55030252 single base substitution G T intron_variant ESAD-UK 20 55030844 55030844 single base substitution G C downstream_gene_variant ESAD-UK 20 55030844 55030844 single base substitution G C intron_variant ESAD-UK 20 55030878 55030878 single base substitution T C downstream_gene_variant ESAD-UK 20 55030878 55030878 single base substitution T C intron_variant ESAD-UK 20 55030906 55030906 single base substitution G C downstream_gene_variant ESAD-UK 20 55030906 55030906 single base substitution G C intron_variant ESAD-UK 20 55031685 55031685 single base substitution C T downstream_gene_variant ESAD-UK 20 55031685 55031685 single base substitution C T intron_variant ESAD-UK 20 55032010 55032010 single base substitution G A downstream_gene_variant ESAD-UK 20 55032010 55032010 single base substitution G A intron_variant ESAD-UK 20 55032049 55032049 single base substitution T G downstream_gene_variant ESAD-UK 20 55032049 55032049 single base substitution T G intron_variant ESAD-UK 20 55033292 55033292 single base substitution A T downstream_gene_variant ESAD-UK 20 55033292 55033292 single base substitution A T intron_variant ESAD-UK 20 55033540 55033540 single base substitution G A downstream_gene_variant ESAD-UK 20 55033540 55033540 single base substitution G A missense_variant A263T 787G>A ESAD-UK 20 55033540 55033540 single base substitution G A missense_variant A700T 2098G>A ESAD-UK 20 55033599 55033599 single base substitution G A downstream_gene_variant ESAD-UK 20 55033599 55033599 single base substitution G A synonymous_variant T282T 846G>A ESAD-UK 20 55033599 55033599 single base substitution G A synonymous_variant T719T 2157G>A ESAD-UK 20 55033881 55033881 single base substitution A C 3_prime_UTR_variant ESAD-UK 20 55033881 55033881 single base substitution A C downstream_gene_variant ESAD-UK 20 55033973 55033973 single base substitution T G 3_prime_UTR_variant ESAD-UK 20 55033973 55033973 single base substitution T G downstream_gene_variant ESAD-UK 20 55034771 55034771 single base substitution C T downstream_gene_variant ESAD-UK 20 55035112 55035112 single base substitution T G downstream_gene_variant ESAD-UK 20 55035889 55035889 single base substitution C G downstream_gene_variant ESAD-UK 20 55037166 55037166 single base substitution T A downstream_gene_variant ESAD-UK 20 55037189 55037189 single base substitution C T downstream_gene_variant ESAD-UK 20 55037346 55037346 single base substitution G A downstream_gene_variant ESAD-UK 20 55037442 55037442 insertion of <=200bp - AT downstream_gene_variant ESAD-UK 20 55037786 55037786 single base substitution G T downstream_gene_variant ESAD-UK 20 55037952 55037952 single base substitution C A downstream_gene_variant ESAD-UK 20 55038048 55038048 single base substitution C A downstream_gene_variant ESAD-UK 20 55038106 55038106 single base substitution C A downstream_gene_variant ESCA-CN 20 55012497 55012497 single base substitution G A exon_variant ESCA-CN 20 55012497 55012497 single base substitution G A missense_variant R105H 314G>A ESCA-CN 20 55027247 55027247 single base substitution C T exon_variant ESCA-CN 20 55027247 55027247 single base substitution C T intron_variant ESCA-CN 20 55027247 55027247 single base substitution C T stop_gained R339* 1015C>T ESCA-CN 20 55027320 55027320 single base substitution G A exon_variant ESCA-CN 20 55027320 55027320 single base substitution G A intron_variant ESCA-CN 20 55027320 55027320 single base substitution G A missense_variant G363E 1088G>A ESCA-CN 20 55028110 55028110 single base substitution C T exon_variant ESCA-CN 20 55028110 55028110 single base substitution C T intron_variant ESCA-CN 20 55028110 55028110 single base substitution C T synonymous_variant T626T 1878C>T GBM-US 20 55027872 55027872 single base substitution T C exon_variant GBM-US 20 55027872 55027872 single base substitution T C intron_variant GBM-US 20 55027872 55027872 single base substitution T C missense_variant L547P 1640T>C GBM-US 20 55033502 55033502 single base substitution T A downstream_gene_variant GBM-US 20 55033502 55033502 single base substitution T A missense_variant I250N 749T>A GBM-US 20 55033502 55033502 single base substitution T A missense_variant I687N 2060T>A KIRP-US 20 55033659 55033659 single base substitution C A downstream_gene_variant KIRP-US 20 55033659 55033659 single base substitution C A missense_variant H302Q 906C>A KIRP-US 20 55033659 55033659 single base substitution C A missense_variant H739Q 2217C>A LAML-KR 20 55031994 55031994 single base substitution G A downstream_gene_variant LAML-KR 20 55031994 55031994 single base substitution G A intron_variant LAML-KR 20 55033713 55033713 single base substitution G A downstream_gene_variant LAML-KR 20 55033713 55033713 single base substitution G A synonymous_variant T320T 960G>A LAML-KR 20 55033713 55033713 single base substitution G A synonymous_variant T757T 2271G>A LGG-US 20 55033517 55033517 single base substitution G A downstream_gene_variant LGG-US 20 55033517 55033517 single base substitution G A missense_variant G255D 764G>A LGG-US 20 55033517 55033517 single base substitution G A missense_variant G692D 2075G>A LICA-CN 20 55026905 55026905 single base substitution A G exon_variant LICA-CN 20 55026905 55026905 single base substitution A G intron_variant LICA-CN 20 55026905 55026905 single base substitution A G missense_variant T225A 673A>G LICA-CN 20 55027241 55027241 single base substitution A T exon_variant LICA-CN 20 55027241 55027241 single base substitution A T intron_variant LICA-CN 20 55027241 55027241 single base substitution A T missense_variant I337F 1009A>T LICA-CN 20 55027638 55027638 single base substitution G A exon_variant LICA-CN 20 55027638 55027638 single base substitution G A intron_variant LICA-CN 20 55027638 55027638 single base substitution G A missense_variant R469Q 1406G>A LICA-FR 20 54983575 54983575 deletion of <=200bp A - upstream_gene_variant LICA-FR 20 54998933 54998933 single base substitution A G intron_variant LICA-FR 20 55005953 55005953 single base substitution A G intron_variant LICA-FR 20 55011418 55011418 single base substitution A G intron_variant LICA-FR 20 55020956 55020956 single base substitution G A missense_variant A154T 460G>A LICA-FR 20 55020956 55020956 single base substitution G A splice_region_variant LIHC-US 20 55012412 55012412 single base substitution G C exon_variant LIHC-US 20 55012412 55012412 single base substitution G C missense_variant D77H 229G>C LIHC-US 20 55012476 55012476 single base substitution A G exon_variant LIHC-US 20 55012476 55012476 single base substitution A G missense_variant Y98C 293A>G LIHC-US 20 55025710 55025710 single base substitution T C exon_variant LIHC-US 20 55025710 55025710 single base substitution T C missense_variant L206P 617T>C LINC-JP 20 54995385 54995385 single base substitution A G intron_variant LINC-JP 20 55012216 55012216 single base substitution A T splice_region_variant LINC-JP 20 55015653 55015653 single base substitution A T intron_variant LINC-JP 20 55036167 55036167 single base substitution G T downstream_gene_variant LINC-JP 20 55039358 55039358 single base substitution G A downstream_gene_variant LIRI-JP 20 54982696 54982696 single base substitution G A upstream_gene_variant LIRI-JP 20 54984069 54984069 single base substitution A G upstream_gene_variant LIRI-JP 20 54984142 54984142 single base substitution C T upstream_gene_variant LIRI-JP 20 54984895 54984895 single base substitution A G upstream_gene_variant LIRI-JP 20 54984974 54984974 single base substitution C T upstream_gene_variant LIRI-JP 20 54984992 54984992 single base substitution A G upstream_gene_variant LIRI-JP 20 54987150 54987150 single base substitution A G upstream_gene_variant LIRI-JP 20 54987550 54987550 single base substitution G T missense_variant K12N 36G>T LIRI-JP 20 54987550 54987550 single base substitution G T splice_region_variant LIRI-JP 20 54989440 54989440 single base substitution A G intron_variant LIRI-JP 20 54989636 54989636 single base substitution A G intron_variant LIRI-JP 20 54992313 54992313 single base substitution A G intron_variant LIRI-JP 20 54993252 54993252 single base substitution C A intron_variant LIRI-JP 20 54993970 54993970 single base substitution A G intron_variant LIRI-JP 20 54995055 54995055 single base substitution C T intron_variant LIRI-JP 20 54996067 54996067 single base substitution T C intron_variant LIRI-JP 20 54997366 54997366 single base substitution T C intron_variant LIRI-JP 20 54998444 54998444 single base substitution G A intron_variant LIRI-JP 20 54999939 54999939 single base substitution G A intron_variant LIRI-JP 20 55000908 55000908 single base substitution C T intron_variant LIRI-JP 20 55002167 55002167 single base substitution T C intron_variant LIRI-JP 20 55003371 55003371 single base substitution A T intron_variant LIRI-JP 20 55003380 55003380 single base substitution A C intron_variant LIRI-JP 20 55003834 55003834 single base substitution A C intron_variant LIRI-JP 20 55006633 55006633 single base substitution A G intron_variant LIRI-JP 20 55006780 55006780 single base substitution A T intron_variant LIRI-JP 20 55008554 55008554 single base substitution C A intron_variant LIRI-JP 20 55009507 55009507 single base substitution A G intron_variant LIRI-JP 20 55010399 55010399 single base substitution G T intron_variant LIRI-JP 20 55012647 55012647 single base substitution G A splice_region_variant LIRI-JP 20 55013539 55013539 single base substitution G A intron_variant LIRI-JP 20 55013577 55013578 deletion of <=200bp AG - intron_variant LIRI-JP 20 55017325 55017325 single base substitution G T intron_variant LIRI-JP 20 55017439 55017439 single base substitution C T intron_variant LIRI-JP 20 55020704 55020704 single base substitution T G intron_variant LIRI-JP 20 55021187 55021187 single base substitution C A intron_variant LIRI-JP 20 55021635 55021635 single base substitution A G intron_variant LIRI-JP 20 55022657 55022657 single base substitution C T intron_variant LIRI-JP 20 55027043 55027043 single base substitution G A exon_variant LIRI-JP 20 55027043 55027043 single base substitution G A intron_variant LIRI-JP 20 55027043 55027043 single base substitution G A missense_variant A271T 811G>A LIRI-JP 20 55029429 55029429 single base substitution G T downstream_gene_variant LIRI-JP 20 55029429 55029429 single base substitution G T intron_variant LIRI-JP 20 55033132 55033132 single base substitution G T downstream_gene_variant LIRI-JP 20 55033132 55033132 single base substitution G T intron_variant LIRI-JP 20 55036908 55036908 single base substitution T C downstream_gene_variant LIRI-JP 20 55037957 55037957 single base substitution T A downstream_gene_variant LIRI-JP 20 55038170 55038170 single base substitution T C downstream_gene_variant LIRI-JP 20 55038245 55038245 single base substitution T C downstream_gene_variant LIRI-JP 20 55039350 55039350 single base substitution G A downstream_gene_variant LUSC-KR 20 54982451 54982451 single base substitution G A upstream_gene_variant LUSC-KR 20 54983771 54983771 single base substitution G A upstream_gene_variant LUSC-KR 20 54987051 54987051 single base substitution A G upstream_gene_variant LUSC-KR 20 54987261 54987261 single base substitution G T 5_prime_UTR_variant LUSC-KR 20 54987261 54987261 single base substitution G T upstream_gene_variant LUSC-KR 20 54987563 54987563 single base substitution G T intron_variant LUSC-KR 20 54995656 54995656 single base substitution G T intron_variant LUSC-KR 20 55000130 55000130 single base substitution G T intron_variant LUSC-KR 20 55000131 55000131 single base substitution G T intron_variant LUSC-KR 20 55012469 55012469 single base substitution G T exon_variant LUSC-KR 20 55012469 55012469 single base substitution G T stop_gained E96* 286G>T LUSC-KR 20 55013602 55013602 single base substitution A T intron_variant LUSC-KR 20 55014366 55014366 single base substitution A G intron_variant LUSC-KR 20 55015773 55015773 single base substitution G T intron_variant LUSC-KR 20 55019446 55019446 single base substitution C A intron_variant LUSC-KR 20 55025327 55025327 single base substitution G T intron_variant LUSC-KR 20 55026140 55026140 single base substitution C G intron_variant LUSC-KR 20 55027593 55027593 single base substitution C A exon_variant LUSC-KR 20 55027593 55027593 single base substitution C A intron_variant LUSC-KR 20 55027593 55027593 single base substitution C A missense_variant S454Y 1361C>A LUSC-KR 20 55027616 55027616 single base substitution G T exon_variant LUSC-KR 20 55027616 55027616 single base substitution G T intron_variant LUSC-KR 20 55027616 55027616 single base substitution G T missense_variant V462F 1384G>T LUSC-KR 20 55027783 55027783 single base substitution G T exon_variant LUSC-KR 20 55027783 55027783 single base substitution G T intron_variant LUSC-KR 20 55027783 55027783 single base substitution G T synonymous_variant R517R 1551G>T LUSC-KR 20 55029346 55029346 single base substitution C A downstream_gene_variant LUSC-KR 20 55029346 55029346 single base substitution C A intron_variant LUSC-KR 20 55029899 55029899 single base substitution G T downstream_gene_variant LUSC-KR 20 55029899 55029899 single base substitution G T intron_variant LUSC-KR 20 55032290 55032290 single base substitution A G downstream_gene_variant LUSC-KR 20 55032290 55032290 single base substitution A G intron_variant LUSC-KR 20 55035166 55035166 single base substitution A G downstream_gene_variant LUSC-KR 20 55035936 55035936 single base substitution T A downstream_gene_variant LUSC-KR 20 55038929 55038929 single base substitution C T downstream_gene_variant LUSC-US 20 55026901 55026901 single base substitution G A exon_variant LUSC-US 20 55026901 55026901 single base substitution G A intron_variant LUSC-US 20 55026901 55026901 single base substitution G A synonymous_variant V223V 669G>A LUSC-US 20 55027043 55027043 single base substitution G T exon_variant LUSC-US 20 55027043 55027043 single base substitution G T intron_variant LUSC-US 20 55027043 55027043 single base substitution G T missense_variant A271S 811G>T LUSC-US 20 55027069 55027069 single base substitution C A exon_variant LUSC-US 20 55027069 55027069 single base substitution C A intron_variant LUSC-US 20 55027069 55027069 single base substitution C A missense_variant F279L 837C>A LUSC-US 20 55027084 55027084 single base substitution T C exon_variant LUSC-US 20 55027084 55027084 single base substitution T C intron_variant LUSC-US 20 55027084 55027084 single base substitution T C synonymous_variant S284S 852T>C LUSC-US 20 55027180 55027180 single base substitution A T exon_variant LUSC-US 20 55027180 55027180 single base substitution A T intron_variant LUSC-US 20 55027180 55027180 single base substitution A T synonymous_variant V316V 948A>T LUSC-US 20 55027547 55027547 single base substitution G A exon_variant LUSC-US 20 55027547 55027547 single base substitution G A intron_variant LUSC-US 20 55027547 55027547 single base substitution G A missense_variant V439M 1315G>A LUSC-US 20 55027721 55027721 single base substitution G T exon_variant LUSC-US 20 55027721 55027721 single base substitution G T intron_variant LUSC-US 20 55027721 55027721 single base substitution G T missense_variant A497S 1489G>T LUSC-US 20 55027781 55027781 single base substitution C T exon_variant LUSC-US 20 55027781 55027781 single base substitution C T intron_variant LUSC-US 20 55027781 55027781 single base substitution C T missense_variant R517W 1549C>T LUSC-US 20 55027782 55027782 single base substitution G T exon_variant LUSC-US 20 55027782 55027782 single base substitution G T intron_variant LUSC-US 20 55027782 55027782 single base substitution G T missense_variant R517L 1550G>T LUSC-US 20 55027803 55027803 single base substitution C A exon_variant LUSC-US 20 55027803 55027803 single base substitution C A intron_variant LUSC-US 20 55027803 55027803 single base substitution C A missense_variant S524Y 1571C>A LUSC-US 20 55027876 55027876 single base substitution G A exon_variant LUSC-US 20 55027876 55027876 single base substitution G A intron_variant LUSC-US 20 55027876 55027876 single base substitution G A synonymous_variant V548V 1644G>A LUSC-US 20 55027972 55027972 single base substitution C T exon_variant LUSC-US 20 55027972 55027972 single base substitution C T intron_variant LUSC-US 20 55027972 55027972 single base substitution C T synonymous_variant V580V 1740C>T LUSC-US 20 55033731 55033731 single base substitution G T downstream_gene_variant LUSC-US 20 55033731 55033731 single base substitution G T synonymous_variant A326A 978G>T LUSC-US 20 55033731 55033731 single base substitution G T synonymous_variant A763A 2289G>T LUSC-US 20 55033756 55033756 single base substitution G A downstream_gene_variant LUSC-US 20 55033756 55033756 single base substitution G A missense_variant E335K 1003G>A LUSC-US 20 55033756 55033756 single base substitution G A missense_variant E772K 2314G>A LUSC-US 20 55033790 55033790 single base substitution G C downstream_gene_variant LUSC-US 20 55033790 55033790 single base substitution G C missense_variant G346A 1037G>C LUSC-US 20 55033790 55033790 single base substitution G C missense_variant G783A 2348G>C MALY-DE 20 54983061 54983061 single base substitution G A upstream_gene_variant MALY-DE 20 55005911 55005911 single base substitution A G intron_variant MALY-DE 20 55009490 55009490 single base substitution T C intron_variant MALY-DE 20 55010384 55010384 single base substitution T C intron_variant MALY-DE 20 55014288 55014288 single base substitution A G intron_variant MALY-DE 20 55022972 55022972 single base substitution G C intron_variant MELA-AU 20 54982999 54982999 single base substitution C T upstream_gene_variant MELA-AU 20 54983922 54983922 single base substitution A G upstream_gene_variant MELA-AU 20 54984463 54984463 single base substitution C T upstream_gene_variant MELA-AU 20 54984696 54984696 single base substitution C T upstream_gene_variant MELA-AU 20 54985238 54985238 single base substitution C T upstream_gene_variant MELA-AU 20 54985320 54985320 single base substitution C T upstream_gene_variant MELA-AU 20 54985677 54985677 single base substitution C T upstream_gene_variant MELA-AU 20 54985788 54985788 single base substitution C T upstream_gene_variant MELA-AU 20 54986643 54986643 single base substitution G T upstream_gene_variant MELA-AU 20 54987076 54987076 single base substitution C T upstream_gene_variant MELA-AU 20 54987104 54987104 single base substitution G A upstream_gene_variant MELA-AU 20 54987380 54987380 single base substitution C T 5_prime_UTR_variant MELA-AU 20 54987380 54987380 single base substitution C T exon_variant MELA-AU 20 54987380 54987380 single base substitution C T intron_variant MELA-AU 20 54987868 54987868 single base substitution C T intron_variant MELA-AU 20 54988115 54988115 single base substitution C T intron_variant MELA-AU 20 54988123 54988123 single base substitution G A intron_variant MELA-AU 20 54988360 54988360 single base substitution G A intron_variant MELA-AU 20 54988532 54988532 single base substitution C T intron_variant MELA-AU 20 54988557 54988557 single base substitution C T intron_variant MELA-AU 20 54988666 54988666 single base substitution T C intron_variant MELA-AU 20 54988785 54988785 single base substitution C T intron_variant MELA-AU 20 54989134 54989134 single base substitution C T intron_variant MELA-AU 20 54989254 54989254 single base substitution C T intron_variant MELA-AU 20 54989782 54989782 single base substitution G A intron_variant MELA-AU 20 54990182 54990182 single base substitution C T intron_variant MELA-AU 20 54990898 54990898 single base substitution T A intron_variant MELA-AU 20 54990924 54990924 single base substitution C T intron_variant MELA-AU 20 54992409 54992409 single base substitution C T intron_variant MELA-AU 20 54992521 54992521 single base substitution G A intron_variant MELA-AU 20 54992585 54992585 single base substitution C T intron_variant MELA-AU 20 54992983 54992983 single base substitution C T intron_variant MELA-AU 20 54992987 54992987 single base substitution C T intron_variant MELA-AU 20 54992990 54992990 single base substitution C T intron_variant MELA-AU 20 54993446 54993446 single base substitution G A intron_variant MELA-AU 20 54993697 54993697 single base substitution C T intron_variant MELA-AU 20 54993973 54993973 insertion of <=200bp - A intron_variant MELA-AU 20 54993981 54993981 single base substitution C T intron_variant MELA-AU 20 54994279 54994279 single base substitution G A intron_variant MELA-AU 20 54994446 54994446 single base substitution T C intron_variant MELA-AU 20 54994713 54994713 single base substitution C T intron_variant MELA-AU 20 54995057 54995057 single base substitution C T intron_variant MELA-AU 20 54995095 54995095 single base substitution C T intron_variant MELA-AU 20 54995208 54995208 single base substitution C T intron_variant MELA-AU 20 54995323 54995323 single base substitution C T intron_variant MELA-AU 20 54995348 54995348 single base substitution G A intron_variant MELA-AU 20 54995442 54995442 single base substitution G A intron_variant MELA-AU 20 54995858 54995858 single base substitution C T intron_variant MELA-AU 20 54995991 54995991 single base substitution G A intron_variant MELA-AU 20 54996189 54996189 single base substitution C T intron_variant MELA-AU 20 54996199 54996199 single base substitution C T intron_variant MELA-AU 20 54996666 54996666 single base substitution C T intron_variant MELA-AU 20 54996674 54996674 single base substitution C T intron_variant MELA-AU 20 54996909 54996909 single base substitution G A intron_variant MELA-AU 20 54997153 54997154 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 20 54997183 54997183 single base substitution C T intron_variant MELA-AU 20 54997223 54997223 single base substitution G A intron_variant MELA-AU 20 54997325 54997325 single base substitution C T intron_variant MELA-AU 20 54997638 54997638 single base substitution C T intron_variant MELA-AU 20 54997762 54997762 single base substitution G A intron_variant MELA-AU 20 54998068 54998068 single base substitution C T intron_variant MELA-AU 20 54998157 54998157 single base substitution C G intron_variant MELA-AU 20 54998253 54998253 single base substitution C T intron_variant MELA-AU 20 54998286 54998286 single base substitution C T intron_variant MELA-AU 20 54998349 54998349 single base substitution C T intron_variant MELA-AU 20 54998458 54998458 single base substitution C T intron_variant MELA-AU 20 54998519 54998520 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 54998554 54998554 single base substitution C T intron_variant MELA-AU 20 54998610 54998610 single base substitution T G intron_variant MELA-AU 20 54999318 54999318 single base substitution C T intron_variant MELA-AU 20 54999594 54999594 single base substitution C T intron_variant MELA-AU 20 54999784 54999784 single base substitution G A intron_variant MELA-AU 20 54999787 54999787 single base substitution A G intron_variant MELA-AU 20 55000026 55000026 single base substitution G A intron_variant MELA-AU 20 55000130 55000130 single base substitution G A intron_variant MELA-AU 20 55000226 55000226 single base substitution G A intron_variant MELA-AU 20 55000321 55000321 single base substitution T A intron_variant MELA-AU 20 55000395 55000395 single base substitution C T intron_variant MELA-AU 20 55000406 55000406 single base substitution C T intron_variant MELA-AU 20 55000421 55000421 single base substitution C T intron_variant MELA-AU 20 55000474 55000474 single base substitution C T intron_variant MELA-AU 20 55000639 55000639 single base substitution G A intron_variant MELA-AU 20 55000675 55000675 single base substitution G A intron_variant MELA-AU 20 55001166 55001166 single base substitution C T intron_variant MELA-AU 20 55001168 55001168 single base substitution T G intron_variant MELA-AU 20 55001489 55001489 single base substitution C T intron_variant MELA-AU 20 55001823 55001823 single base substitution G A intron_variant MELA-AU 20 55003069 55003069 single base substitution G A intron_variant MELA-AU 20 55003421 55003421 single base substitution G A intron_variant MELA-AU 20 55003469 55003469 single base substitution G A intron_variant MELA-AU 20 55003540 55003540 single base substitution G A intron_variant MELA-AU 20 55003902 55003902 single base substitution G A intron_variant MELA-AU 20 55004381 55004381 single base substitution A G intron_variant MELA-AU 20 55004401 55004401 single base substitution C T intron_variant MELA-AU 20 55004765 55004765 single base substitution A G intron_variant MELA-AU 20 55004786 55004786 single base substitution C T intron_variant MELA-AU 20 55004904 55004904 single base substitution C T intron_variant MELA-AU 20 55004916 55004916 single base substitution C T intron_variant MELA-AU 20 55004943 55004943 single base substitution C T intron_variant MELA-AU 20 55004959 55004959 single base substitution C T intron_variant MELA-AU 20 55005194 55005194 single base substitution C T intron_variant MELA-AU 20 55005412 55005412 single base substitution G A intron_variant MELA-AU 20 55005556 55005556 deletion of <=200bp A - intron_variant MELA-AU 20 55005611 55005611 single base substitution C T intron_variant MELA-AU 20 55006121 55006121 single base substitution G A intron_variant MELA-AU 20 55006231 55006231 single base substitution G A intron_variant MELA-AU 20 55006241 55006241 single base substitution G A intron_variant MELA-AU 20 55007177 55007177 single base substitution G A intron_variant MELA-AU 20 55007504 55007504 single base substitution A G intron_variant MELA-AU 20 55007866 55007866 single base substitution C T intron_variant MELA-AU 20 55007972 55007972 single base substitution C T intron_variant MELA-AU 20 55008936 55008936 single base substitution G A intron_variant MELA-AU 20 55009331 55009331 single base substitution G A intron_variant MELA-AU 20 55010176 55010176 single base substitution C T intron_variant MELA-AU 20 55010210 55010210 single base substitution C T intron_variant MELA-AU 20 55010442 55010442 single base substitution G A intron_variant MELA-AU 20 55010875 55010875 single base substitution C T intron_variant MELA-AU 20 55011004 55011004 single base substitution C T intron_variant MELA-AU 20 55011434 55011434 single base substitution A G intron_variant MELA-AU 20 55011593 55011594 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 55011594 55011594 single base substitution G A intron_variant MELA-AU 20 55011647 55011647 single base substitution A T intron_variant MELA-AU 20 55011813 55011813 single base substitution C T intron_variant MELA-AU 20 55011867 55011867 single base substitution C T intron_variant MELA-AU 20 55011930 55011930 single base substitution G A intron_variant MELA-AU 20 55012148 55012148 single base substitution G A intron_variant MELA-AU 20 55012357 55012357 single base substitution G A exon_variant MELA-AU 20 55012357 55012357 single base substitution G A synonymous_variant G58G 174G>A MELA-AU 20 55012432 55012432 single base substitution C T exon_variant MELA-AU 20 55012432 55012432 single base substitution C T synonymous_variant F83F 249C>T MELA-AU 20 55012536 55012536 single base substitution G A exon_variant MELA-AU 20 55012536 55012536 single base substitution G A missense_variant S118N 353G>A MELA-AU 20 55012584 55012585 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 20 55012584 55012585 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P134L 401CC>TT MELA-AU 20 55012735 55012735 single base substitution C T intron_variant MELA-AU 20 55012816 55012816 single base substitution G A intron_variant MELA-AU 20 55012941 55012941 single base substitution C T intron_variant MELA-AU 20 55013207 55013207 single base substitution G A intron_variant MELA-AU 20 55013371 55013371 single base substitution C T intron_variant MELA-AU 20 55014334 55014334 single base substitution C T intron_variant MELA-AU 20 55014421 55014421 single base substitution A G intron_variant MELA-AU 20 55014533 55014533 single base substitution C T intron_variant MELA-AU 20 55014760 55014760 single base substitution G A intron_variant MELA-AU 20 55014845 55014845 single base substitution C T intron_variant MELA-AU 20 55015149 55015149 single base substitution G A intron_variant MELA-AU 20 55015463 55015463 single base substitution C T intron_variant MELA-AU 20 55015582 55015582 single base substitution C T intron_variant MELA-AU 20 55015816 55015817 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 55015906 55015906 single base substitution C T intron_variant MELA-AU 20 55015943 55015943 single base substitution C T intron_variant MELA-AU 20 55016155 55016155 single base substitution C T intron_variant MELA-AU 20 55016855 55016855 single base substitution T C intron_variant MELA-AU 20 55017744 55017745 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 20 55018821 55018821 single base substitution G A intron_variant MELA-AU 20 55018939 55018939 single base substitution G A intron_variant MELA-AU 20 55019009 55019009 single base substitution G A intron_variant MELA-AU 20 55019158 55019158 single base substitution G A intron_variant MELA-AU 20 55019358 55019358 single base substitution T C intron_variant MELA-AU 20 55019635 55019635 single base substitution T A intron_variant MELA-AU 20 55019691 55019691 single base substitution C T intron_variant MELA-AU 20 55019818 55019818 single base substitution G A intron_variant MELA-AU 20 55019830 55019830 single base substitution C T intron_variant MELA-AU 20 55020120 55020120 single base substitution C T intron_variant MELA-AU 20 55020585 55020585 single base substitution C T intron_variant MELA-AU 20 55020633 55020633 single base substitution C T intron_variant MELA-AU 20 55020641 55020641 single base substitution C T intron_variant MELA-AU 20 55020645 55020645 single base substitution C T intron_variant MELA-AU 20 55020758 55020758 single base substitution G A intron_variant MELA-AU 20 55020769 55020769 single base substitution C T intron_variant MELA-AU 20 55020788 55020788 single base substitution C T intron_variant MELA-AU 20 55020883 55020883 single base substitution G A intron_variant MELA-AU 20 55021044 55021044 single base substitution C T exon_variant MELA-AU 20 55021044 55021044 single base substitution C T missense_variant P183L 548C>T MELA-AU 20 55021282 55021282 single base substitution G A intron_variant MELA-AU 20 55022091 55022091 single base substitution C T intron_variant MELA-AU 20 55022172 55022172 single base substitution G A intron_variant MELA-AU 20 55022359 55022359 single base substitution C T intron_variant MELA-AU 20 55022533 55022533 single base substitution G A intron_variant MELA-AU 20 55022657 55022657 single base substitution C T intron_variant MELA-AU 20 55022686 55022686 single base substitution C A intron_variant MELA-AU 20 55022712 55022712 single base substitution C T intron_variant MELA-AU 20 55022855 55022855 single base substitution C T intron_variant MELA-AU 20 55022865 55022865 single base substitution T A intron_variant MELA-AU 20 55023121 55023122 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 55023128 55023128 single base substitution G A intron_variant MELA-AU 20 55023152 55023152 single base substitution C T intron_variant MELA-AU 20 55023323 55023323 single base substitution G A intron_variant MELA-AU 20 55024137 55024137 single base substitution C T intron_variant MELA-AU 20 55024344 55024344 single base substitution G A intron_variant MELA-AU 20 55024388 55024388 single base substitution C T intron_variant MELA-AU 20 55024730 55024730 single base substitution A G intron_variant MELA-AU 20 55025278 55025278 single base substitution C T intron_variant MELA-AU 20 55025279 55025279 single base substitution C T intron_variant MELA-AU 20 55025744 55025744 single base substitution G A intron_variant MELA-AU 20 55025854 55025855 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 55026001 55026001 single base substitution G A intron_variant MELA-AU 20 55026706 55026706 single base substitution G A intron_variant MELA-AU 20 55026731 55026731 single base substitution C T intron_variant MELA-AU 20 55026799 55026799 single base substitution G A intron_variant MELA-AU 20 55027028 55027028 single base substitution G A exon_variant MELA-AU 20 55027028 55027028 single base substitution G A intron_variant MELA-AU 20 55027028 55027028 single base substitution G A missense_variant E266K 796G>A MELA-AU 20 55027288 55027288 single base substitution C T exon_variant MELA-AU 20 55027288 55027288 single base substitution C T intron_variant MELA-AU 20 55027288 55027288 single base substitution C T synonymous_variant I352I 1056C>T MELA-AU 20 55027290 55027290 single base substitution C T exon_variant MELA-AU 20 55027290 55027290 single base substitution C T intron_variant MELA-AU 20 55027290 55027290 single base substitution C T missense_variant P353L 1058C>T MELA-AU 20 55027342 55027342 single base substitution G A exon_variant MELA-AU 20 55027342 55027342 single base substitution G A intron_variant MELA-AU 20 55027342 55027342 single base substitution G A synonymous_variant K370K 1110G>A MELA-AU 20 55027387 55027387 single base substitution C T exon_variant MELA-AU 20 55027387 55027387 single base substitution C T intron_variant MELA-AU 20 55027387 55027387 single base substitution C T synonymous_variant S385S 1155C>T MELA-AU 20 55027404 55027404 single base substitution C T exon_variant MELA-AU 20 55027404 55027404 single base substitution C T intron_variant MELA-AU 20 55027404 55027404 single base substitution C T missense_variant P391L 1172C>T MELA-AU 20 55027434 55027435 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 20 55027434 55027435 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 55027434 55027435 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S401F 1202CC>TT MELA-AU 20 55027506 55027506 single base substitution C T exon_variant MELA-AU 20 55027506 55027506 single base substitution C T intron_variant MELA-AU 20 55027506 55027506 single base substitution C T missense_variant S425F 1274C>T MELA-AU 20 55027781 55027781 single base substitution C T exon_variant MELA-AU 20 55027781 55027781 single base substitution C T intron_variant MELA-AU 20 55027781 55027781 single base substitution C T missense_variant R517W 1549C>T MELA-AU 20 55028076 55028076 single base substitution C T exon_variant MELA-AU 20 55028076 55028076 single base substitution C T intron_variant MELA-AU 20 55028076 55028076 single base substitution C T missense_variant P615L 1844C>T MELA-AU 20 55028110 55028110 single base substitution C T exon_variant MELA-AU 20 55028110 55028110 single base substitution C T intron_variant MELA-AU 20 55028110 55028110 single base substitution C T synonymous_variant T626T 1878C>T MELA-AU 20 55028128 55028128 single base substitution G A exon_variant MELA-AU 20 55028128 55028128 single base substitution G A intron_variant MELA-AU 20 55028128 55028128 single base substitution G A synonymous_variant R632R 1896G>A MELA-AU 20 55028210 55028210 single base substitution G A exon_variant MELA-AU 20 55028210 55028210 single base substitution G A intron_variant MELA-AU 20 55028301 55028301 single base substitution C T exon_variant MELA-AU 20 55028301 55028301 single base substitution C T intron_variant MELA-AU 20 55028416 55028416 single base substitution G A exon_variant MELA-AU 20 55028416 55028416 single base substitution G A intron_variant MELA-AU 20 55028422 55028422 single base substitution T C exon_variant MELA-AU 20 55028422 55028422 single base substitution T C intron_variant MELA-AU 20 55028503 55028503 single base substitution A T exon_variant MELA-AU 20 55028503 55028503 single base substitution A T intron_variant MELA-AU 20 55029039 55029039 single base substitution C G downstream_gene_variant MELA-AU 20 55029039 55029039 single base substitution C G intron_variant MELA-AU 20 55029327 55029327 single base substitution G A downstream_gene_variant MELA-AU 20 55029327 55029327 single base substitution G A intron_variant MELA-AU 20 55029333 55029333 single base substitution G A downstream_gene_variant MELA-AU 20 55029333 55029333 single base substitution G A intron_variant MELA-AU 20 55029403 55029403 single base substitution C T downstream_gene_variant MELA-AU 20 55029403 55029403 single base substitution C T intron_variant MELA-AU 20 55029700 55029700 single base substitution G A downstream_gene_variant MELA-AU 20 55029700 55029700 single base substitution G A intron_variant MELA-AU 20 55029719 55029719 single base substitution T C downstream_gene_variant MELA-AU 20 55029719 55029719 single base substitution T C intron_variant MELA-AU 20 55029788 55029788 single base substitution A G downstream_gene_variant MELA-AU 20 55029788 55029788 single base substitution A G intron_variant MELA-AU 20 55029790 55029790 single base substitution C T downstream_gene_variant MELA-AU 20 55029790 55029790 single base substitution C T intron_variant MELA-AU 20 55029910 55029910 single base substitution C T downstream_gene_variant MELA-AU 20 55029910 55029910 single base substitution C T intron_variant MELA-AU 20 55030189 55030189 single base substitution T A downstream_gene_variant MELA-AU 20 55030189 55030189 single base substitution T A intron_variant MELA-AU 20 55030190 55030190 single base substitution A T downstream_gene_variant MELA-AU 20 55030190 55030190 single base substitution A T intron_variant MELA-AU 20 55030483 55030483 single base substitution C T downstream_gene_variant MELA-AU 20 55030483 55030483 single base substitution C T intron_variant MELA-AU 20 55030487 55030487 single base substitution G A downstream_gene_variant MELA-AU 20 55030487 55030487 single base substitution G A intron_variant MELA-AU 20 55030521 55030521 single base substitution A G downstream_gene_variant MELA-AU 20 55030521 55030521 single base substitution A G intron_variant MELA-AU 20 55030814 55030814 single base substitution C T downstream_gene_variant MELA-AU 20 55030814 55030814 single base substitution C T intron_variant MELA-AU 20 55030844 55030844 single base substitution G A downstream_gene_variant MELA-AU 20 55030844 55030844 single base substitution G A intron_variant MELA-AU 20 55031358 55031358 single base substitution C T downstream_gene_variant MELA-AU 20 55031358 55031358 single base substitution C T intron_variant MELA-AU 20 55031627 55031627 single base substitution C T downstream_gene_variant MELA-AU 20 55031627 55031627 single base substitution C T intron_variant MELA-AU 20 55031796 55031796 single base substitution G A downstream_gene_variant MELA-AU 20 55031796 55031796 single base substitution G A intron_variant MELA-AU 20 55031838 55031838 single base substitution G A downstream_gene_variant MELA-AU 20 55031838 55031838 single base substitution G A intron_variant MELA-AU 20 55031945 55031945 single base substitution T C downstream_gene_variant MELA-AU 20 55031945 55031945 single base substitution T C intron_variant MELA-AU 20 55032101 55032101 single base substitution C T downstream_gene_variant MELA-AU 20 55032101 55032101 single base substitution C T intron_variant MELA-AU 20 55032180 55032180 single base substitution A G downstream_gene_variant MELA-AU 20 55032180 55032180 single base substitution A G intron_variant MELA-AU 20 55032190 55032190 single base substitution C T downstream_gene_variant MELA-AU 20 55032190 55032190 single base substitution C T intron_variant MELA-AU 20 55032229 55032229 single base substitution G A downstream_gene_variant MELA-AU 20 55032229 55032229 single base substitution G A intron_variant MELA-AU 20 55032275 55032275 single base substitution G A downstream_gene_variant MELA-AU 20 55032275 55032275 single base substitution G A intron_variant MELA-AU 20 55032292 55032292 single base substitution G A downstream_gene_variant MELA-AU 20 55032292 55032292 single base substitution G A intron_variant MELA-AU 20 55032334 55032334 single base substitution T G downstream_gene_variant MELA-AU 20 55032334 55032334 single base substitution T G intron_variant MELA-AU 20 55032476 55032476 single base substitution C G downstream_gene_variant MELA-AU 20 55032476 55032476 single base substitution C G intron_variant MELA-AU 20 55032513 55032513 single base substitution A C downstream_gene_variant MELA-AU 20 55032513 55032513 single base substitution A C intron_variant MELA-AU 20 55032686 55032686 single base substitution G A downstream_gene_variant MELA-AU 20 55032686 55032686 single base substitution G A intron_variant MELA-AU 20 55033056 55033056 single base substitution G A downstream_gene_variant MELA-AU 20 55033056 55033056 single base substitution G A intron_variant MELA-AU 20 55033445 55033445 single base substitution G A downstream_gene_variant MELA-AU 20 55033445 55033445 single base substitution G A missense_variant R231K 692G>A MELA-AU 20 55033445 55033445 single base substitution G A missense_variant R668K 2003G>A MELA-AU 20 55033608 55033608 single base substitution G A downstream_gene_variant MELA-AU 20 55033608 55033608 single base substitution G A missense_variant M285I 855G>A MELA-AU 20 55033608 55033608 single base substitution G A missense_variant M722I 2166G>A MELA-AU 20 55033623 55033623 single base substitution G A downstream_gene_variant MELA-AU 20 55033623 55033623 single base substitution G A synonymous_variant R290R 870G>A MELA-AU 20 55033623 55033623 single base substitution G A synonymous_variant R727R 2181G>A MELA-AU 20 55033636 55033636 single base substitution G A downstream_gene_variant MELA-AU 20 55033636 55033636 single base substitution G A missense_variant E295K 883G>A MELA-AU 20 55033636 55033636 single base substitution G A missense_variant E732K 2194G>A MELA-AU 20 55033727 55033727 single base substitution C T downstream_gene_variant MELA-AU 20 55033727 55033727 single base substitution C T missense_variant A325V 974C>T MELA-AU 20 55033727 55033727 single base substitution C T missense_variant A762V 2285C>T MELA-AU 20 55033872 55033872 single base substitution C T 3_prime_UTR_variant MELA-AU 20 55033872 55033872 single base substitution C T downstream_gene_variant MELA-AU 20 55033876 55033876 single base substitution T A 3_prime_UTR_variant MELA-AU 20 55033876 55033876 single base substitution T A downstream_gene_variant MELA-AU 20 55033942 55033942 single base substitution C T 3_prime_UTR_variant MELA-AU 20 55033942 55033942 single base substitution C T downstream_gene_variant MELA-AU 20 55034071 55034071 single base substitution C T 3_prime_UTR_variant MELA-AU 20 55034071 55034071 single base substitution C T downstream_gene_variant MELA-AU 20 55034141 55034141 single base substitution C T 3_prime_UTR_variant MELA-AU 20 55034141 55034141 single base substitution C T downstream_gene_variant MELA-AU 20 55034270 55034270 single base substitution C T 3_prime_UTR_variant MELA-AU 20 55034270 55034270 single base substitution C T downstream_gene_variant MELA-AU 20 55034318 55034318 single base substitution G A 3_prime_UTR_variant MELA-AU 20 55034318 55034318 single base substitution G A downstream_gene_variant MELA-AU 20 55034347 55034347 single base substitution G A 3_prime_UTR_variant MELA-AU 20 55034347 55034347 single base substitution G A downstream_gene_variant MELA-AU 20 55034370 55034370 single base substitution C T 3_prime_UTR_variant MELA-AU 20 55034370 55034370 single base substitution C T downstream_gene_variant MELA-AU 20 55034372 55034372 single base substitution C T 3_prime_UTR_variant MELA-AU 20 55034372 55034372 single base substitution C T downstream_gene_variant MELA-AU 20 55034553 55034553 single base substitution C T downstream_gene_variant MELA-AU 20 55035498 55035498 single base substitution C T downstream_gene_variant MELA-AU 20 55035626 55035626 single base substitution G A downstream_gene_variant MELA-AU 20 55035811 55035811 single base substitution C T downstream_gene_variant MELA-AU 20 55036014 55036014 single base substitution C T downstream_gene_variant MELA-AU 20 55036016 55036016 single base substitution C T downstream_gene_variant MELA-AU 20 55036059 55036059 single base substitution G A downstream_gene_variant MELA-AU 20 55036114 55036114 single base substitution G A downstream_gene_variant MELA-AU 20 55036201 55036201 single base substitution C T downstream_gene_variant MELA-AU 20 55036216 55036216 single base substitution C T downstream_gene_variant MELA-AU 20 55036220 55036220 single base substitution C T downstream_gene_variant MELA-AU 20 55036616 55036616 single base substitution G A downstream_gene_variant MELA-AU 20 55036935 55036935 single base substitution G A downstream_gene_variant MELA-AU 20 55037026 55037026 single base substitution C T downstream_gene_variant MELA-AU 20 55037271 55037271 single base substitution G A downstream_gene_variant MELA-AU 20 55037306 55037307 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 55037460 55037460 single base substitution G A downstream_gene_variant MELA-AU 20 55037604 55037604 single base substitution C T downstream_gene_variant MELA-AU 20 55037656 55037656 single base substitution G A downstream_gene_variant MELA-AU 20 55037667 55037667 single base substitution C T downstream_gene_variant MELA-AU 20 55037776 55037776 single base substitution G A downstream_gene_variant MELA-AU 20 55037783 55037783 single base substitution G A downstream_gene_variant MELA-AU 20 55037874 55037874 single base substitution G A downstream_gene_variant MELA-AU 20 55038089 55038089 single base substitution G A downstream_gene_variant MELA-AU 20 55038158 55038158 single base substitution G A downstream_gene_variant MELA-AU 20 55038235 55038236 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 20 55038354 55038354 single base substitution A G downstream_gene_variant MELA-AU 20 55038354 55038354 single base substitution A T downstream_gene_variant MELA-AU 20 55039200 55039200 single base substitution G A downstream_gene_variant MELA-AU 20 55039324 55039324 single base substitution G A downstream_gene_variant MELA-AU 20 55039368 55039368 single base substitution C T downstream_gene_variant MELA-AU 20 55039387 55039387 single base substitution G A downstream_gene_variant ORCA-IN 20 54988241 54988241 deletion of <=200bp G - intron_variant ORCA-IN 20 55012279 55012279 single base substitution C T exon_variant ORCA-IN 20 55012279 55012279 single base substitution C T synonymous_variant F32F 96C>T ORCA-IN 20 55012491 55012491 single base substitution T C exon_variant ORCA-IN 20 55012491 55012491 single base substitution T C missense_variant L103P 308T>C ORCA-IN 20 55020973 55020973 single base substitution C T exon_variant ORCA-IN 20 55020973 55020973 single base substitution C T synonymous_variant P159P 477C>T ORCA-IN 20 55020983 55020983 single base substitution C T exon_variant ORCA-IN 20 55020983 55020983 single base substitution C T missense_variant R163W 487C>T ORCA-IN 20 55027367 55027367 single base substitution C A exon_variant ORCA-IN 20 55027367 55027367 single base substitution C A intron_variant ORCA-IN 20 55027367 55027367 single base substitution C A missense_variant H379N 1135C>A ORCA-IN 20 55027464 55027464 single base substitution C T exon_variant ORCA-IN 20 55027464 55027464 single base substitution C T intron_variant ORCA-IN 20 55027464 55027464 single base substitution C T missense_variant S411F 1232C>T ORCA-IN 20 55029946 55029946 single base substitution G C downstream_gene_variant ORCA-IN 20 55029946 55029946 single base substitution G C intron_variant ORCA-IN 20 55030133 55030133 single base substitution G C downstream_gene_variant ORCA-IN 20 55030133 55030133 single base substitution G C intron_variant ORCA-IN 20 55032021 55032021 single base substitution T C downstream_gene_variant ORCA-IN 20 55032021 55032021 single base substitution T C intron_variant OV-AU 20 54982344 54982344 single base substitution A G upstream_gene_variant OV-AU 20 54984463 54984463 single base substitution C T upstream_gene_variant OV-AU 20 54984811 54984811 single base substitution G T upstream_gene_variant OV-AU 20 54987968 54987968 single base substitution A T intron_variant OV-AU 20 54991384 54991384 single base substitution G A intron_variant OV-AU 20 55004178 55004178 single base substitution C G intron_variant OV-AU 20 55005663 55005663 single base substitution A T intron_variant OV-AU 20 55008759 55008759 single base substitution C T intron_variant OV-AU 20 55011414 55011414 single base substitution G A intron_variant OV-AU 20 55011420 55011420 single base substitution A G intron_variant OV-AU 20 55013699 55013699 single base substitution G T intron_variant OV-AU 20 55018066 55018066 single base substitution A G intron_variant OV-AU 20 55020829 55020829 single base substitution G T intron_variant OV-AU 20 55021001 55021001 single base substitution C T exon_variant OV-AU 20 55021001 55021001 single base substitution C T synonymous_variant L169L 505C>T OV-AU 20 55025213 55025213 single base substitution G T intron_variant OV-AU 20 55025214 55025214 single base substitution A T intron_variant OV-AU 20 55029209 55029209 single base substitution C A downstream_gene_variant OV-AU 20 55029209 55029209 single base substitution C A intron_variant OV-AU 20 55031575 55031575 single base substitution G A downstream_gene_variant OV-AU 20 55031575 55031575 single base substitution G A intron_variant OV-AU 20 55033651 55033651 single base substitution A C downstream_gene_variant OV-AU 20 55033651 55033651 single base substitution A C missense_variant S300R 898A>C OV-AU 20 55033651 55033651 single base substitution A C missense_variant S737R 2209A>C OV-AU 20 55035121 55035121 single base substitution G A downstream_gene_variant OV-AU 20 55035747 55035747 single base substitution G A downstream_gene_variant OV-AU 20 55038078 55038078 single base substitution G C downstream_gene_variant OV-US 20 55026992 55026992 single base substitution A T exon_variant OV-US 20 55026992 55026992 single base substitution A T intron_variant OV-US 20 55026992 55026992 single base substitution A T missense_variant S254C 760A>T PACA-AU 20 54983949 54983949 single base substitution C A upstream_gene_variant PACA-AU 20 54985445 54985445 single base substitution T A upstream_gene_variant PACA-AU 20 54987184 54987186 deletion of <=200bp TTC - 5_prime_UTR_variant PACA-AU 20 54987184 54987186 deletion of <=200bp TTC - upstream_gene_variant PACA-AU 20 54988283 54988283 single base substitution A G intron_variant PACA-AU 20 54988897 54988897 single base substitution G A intron_variant PACA-AU 20 54989320 54989320 single base substitution G A intron_variant PACA-AU 20 54990437 54990437 single base substitution C A intron_variant PACA-AU 20 54994644 54994644 single base substitution G A intron_variant PACA-AU 20 54999659 54999659 single base substitution T C intron_variant PACA-AU 20 55003970 55003970 single base substitution A C intron_variant PACA-AU 20 55004339 55004339 single base substitution C T intron_variant PACA-AU 20 55005874 55005874 single base substitution G T intron_variant PACA-AU 20 55007901 55007901 single base substitution C T intron_variant PACA-AU 20 55008615 55008615 single base substitution G A intron_variant PACA-AU 20 55009796 55009796 single base substitution G A intron_variant PACA-AU 20 55009853 55009853 single base substitution C T intron_variant PACA-AU 20 55009940 55009940 deletion of <=200bp A - intron_variant PACA-AU 20 55010909 55010909 single base substitution C T intron_variant PACA-AU 20 55012364 55012364 single base substitution G A exon_variant PACA-AU 20 55012364 55012364 single base substitution G A missense_variant G61S 181G>A PACA-AU 20 55012778 55012778 single base substitution G A intron_variant PACA-AU 20 55014856 55014856 single base substitution G A intron_variant PACA-AU 20 55014887 55014887 single base substitution T C intron_variant PACA-AU 20 55021497 55021497 deletion of <=200bp T - intron_variant PACA-AU 20 55021503 55021503 single base substitution T A intron_variant PACA-AU 20 55024144 55024144 single base substitution C T intron_variant PACA-AU 20 55024503 55024503 single base substitution C T intron_variant PACA-AU 20 55024508 55024508 single base substitution C T intron_variant PACA-AU 20 55025657 55025657 single base substitution G T missense_variant E188D 564G>T PACA-AU 20 55025657 55025657 single base substitution G T splice_region_variant PACA-AU 20 55027317 55027317 single base substitution C A exon_variant PACA-AU 20 55027317 55027317 single base substitution C A intron_variant PACA-AU 20 55027317 55027317 single base substitution C A missense_variant A362D 1085C>A PACA-AU 20 55029251 55029251 single base substitution C A downstream_gene_variant PACA-AU 20 55029251 55029251 single base substitution C A intron_variant PACA-AU 20 55030190 55030190 single base substitution A T downstream_gene_variant PACA-AU 20 55030190 55030190 single base substitution A T intron_variant PACA-AU 20 55030559 55030559 single base substitution C A downstream_gene_variant PACA-AU 20 55030559 55030559 single base substitution C A intron_variant PACA-AU 20 55037764 55037764 single base substitution A T downstream_gene_variant PACA-AU 20 55038979 55038979 single base substitution C G downstream_gene_variant PACA-CA 20 54983431 54983431 single base substitution C T upstream_gene_variant PACA-CA 20 54985413 54985413 single base substitution A G upstream_gene_variant PACA-CA 20 54986329 54986329 single base substitution G A upstream_gene_variant PACA-CA 20 54986466 54986466 single base substitution G A upstream_gene_variant PACA-CA 20 54988689 54988689 single base substitution A G intron_variant PACA-CA 20 54990872 54990872 single base substitution G A intron_variant PACA-CA 20 54992096 54992096 single base substitution T A intron_variant PACA-CA 20 54994583 54994583 single base substitution A T intron_variant PACA-CA 20 55001656 55001662 deletion of <=200bp AGGTCTC - intron_variant PACA-CA 20 55004753 55004753 single base substitution C G intron_variant PACA-CA 20 55007568 55007568 single base substitution C G intron_variant PACA-CA 20 55009821 55009821 insertion of <=200bp - A intron_variant PACA-CA 20 55011432 55011432 single base substitution A G intron_variant PACA-CA 20 55011994 55011994 single base substitution G A intron_variant PACA-CA 20 55012854 55012855 deletion of <=200bp TG - intron_variant PACA-CA 20 55014073 55014073 single base substitution G A intron_variant PACA-CA 20 55014683 55014683 single base substitution T A intron_variant PACA-CA 20 55014769 55014769 insertion of <=200bp - T intron_variant PACA-CA 20 55014949 55014949 single base substitution G A intron_variant PACA-CA 20 55016940 55016940 single base substitution A G intron_variant PACA-CA 20 55019890 55019890 single base substitution G A intron_variant PACA-CA 20 55020004 55020004 single base substitution T A intron_variant PACA-CA 20 55020017 55020017 single base substitution T C intron_variant PACA-CA 20 55021016 55021016 single base substitution T C exon_variant PACA-CA 20 55021016 55021016 single base substitution T C missense_variant Y174H 520T>C PACA-CA 20 55021807 55021807 single base substitution C G intron_variant PACA-CA 20 55025376 55025376 single base substitution G A intron_variant PACA-CA 20 55026119 55026119 single base substitution C A intron_variant PACA-CA 20 55026266 55026266 single base substitution A T intron_variant PACA-CA 20 55027446 55027446 single base substitution G A exon_variant PACA-CA 20 55027446 55027446 single base substitution G A intron_variant PACA-CA 20 55027446 55027446 single base substitution G A missense_variant S405N 1214G>A PACA-CA 20 55030121 55030121 single base substitution A T downstream_gene_variant PACA-CA 20 55030121 55030121 single base substitution A T intron_variant PACA-CA 20 55031128 55031128 single base substitution A T downstream_gene_variant PACA-CA 20 55031128 55031128 single base substitution A T intron_variant PACA-CA 20 55039332 55039332 single base substitution C A downstream_gene_variant PAEN-AU 20 55008068 55008068 single base substitution G A intron_variant PAEN-AU 20 55009477 55009477 single base substitution G T intron_variant PAEN-IT 20 55003505 55003505 single base substitution G T intron_variant PAEN-IT 20 55003506 55003506 single base substitution C T intron_variant PBCA-DE 20 54991585 54991586 deletion of <=200bp GT - intron_variant PBCA-DE 20 54995917 54995917 single base substitution C T intron_variant PBCA-DE 20 54997385 54997385 single base substitution A G intron_variant PBCA-DE 20 54998048 54998048 single base substitution G T intron_variant PBCA-DE 20 55006764 55006764 single base substitution G A intron_variant PBCA-DE 20 55008005 55008005 single base substitution G A intron_variant PBCA-DE 20 55008192 55008192 single base substitution G A intron_variant PBCA-DE 20 55012652 55012654 deletion of <=200bp CTT - intron_variant PBCA-DE 20 55016980 55016980 single base substitution C T intron_variant PBCA-DE 20 55032763 55032763 single base substitution G A downstream_gene_variant PBCA-DE 20 55032763 55032763 single base substitution G A intron_variant PBCA-DE 20 55037442 55037443 deletion of <=200bp AT - downstream_gene_variant PRAD-CA 20 55009999 55009999 single base substitution T C intron_variant PRAD-CA 20 55011443 55011443 single base substitution T G intron_variant PRAD-CA 20 55029251 55029251 single base substitution C A downstream_gene_variant PRAD-CA 20 55029251 55029251 single base substitution C A intron_variant PRAD-UK 20 54994767 54994767 single base substitution G T intron_variant PRAD-UK 20 54997246 54997246 single base substitution C T intron_variant PRAD-UK 20 55000492 55000492 single base substitution C A intron_variant PRAD-UK 20 55013279 55013279 single base substitution G T intron_variant PRAD-UK 20 55037472 55037472 single base substitution G A downstream_gene_variant RECA-EU 20 54987018 54987018 single base substitution A T upstream_gene_variant RECA-EU 20 54992846 54992846 single base substitution T C intron_variant RECA-EU 20 55005660 55005660 single base substitution A T intron_variant RECA-EU 20 55006589 55006589 single base substitution C T intron_variant RECA-EU 20 55009494 55009494 single base substitution T A intron_variant RECA-EU 20 55034918 55034918 single base substitution A C downstream_gene_variant RECA-EU 20 55038030 55038030 single base substitution A G downstream_gene_variant SKCA-BR 20 54984785 54984785 single base substitution C G upstream_gene_variant SKCA-BR 20 54987891 54987891 single base substitution A C intron_variant SKCA-BR 20 54988730 54988730 single base substitution A G intron_variant SKCA-BR 20 54994814 54994814 single base substitution G A intron_variant SKCA-BR 20 54996186 54996186 single base substitution C T intron_variant SKCA-BR 20 54999514 54999514 single base substitution C T intron_variant SKCA-BR 20 55001641 55001641 single base substitution T C intron_variant SKCA-BR 20 55003909 55003909 single base substitution A C intron_variant SKCA-BR 20 55004369 55004369 single base substitution G A intron_variant SKCA-BR 20 55007410 55007410 single base substitution C T intron_variant SKCA-BR 20 55007787 55007787 single base substitution C T intron_variant SKCA-BR 20 55010917 55010917 single base substitution C T intron_variant SKCA-BR 20 55011430 55011430 single base substitution G A intron_variant SKCA-BR 20 55011432 55011432 single base substitution A G intron_variant SKCA-BR 20 55011612 55011612 single base substitution G A intron_variant SKCA-BR 20 55014106 55014106 single base substitution C T intron_variant SKCA-BR 20 55014615 55014615 single base substitution C T intron_variant SKCA-BR 20 55015458 55015458 single base substitution C T intron_variant SKCA-BR 20 55016435 55016435 single base substitution T G intron_variant SKCA-BR 20 55018136 55018136 single base substitution C T intron_variant SKCA-BR 20 55018798 55018798 single base substitution G A intron_variant SKCA-BR 20 55021308 55021308 single base substitution G A intron_variant SKCA-BR 20 55022043 55022043 single base substitution C T intron_variant SKCA-BR 20 55023197 55023199 deletion of <=200bp CAA - intron_variant SKCA-BR 20 55025087 55025087 insertion of <=200bp - CT intron_variant SKCA-BR 20 55029758 55029758 single base substitution T C downstream_gene_variant SKCA-BR 20 55029758 55029758 single base substitution T C intron_variant SKCA-BR 20 55029859 55029859 single base substitution C T downstream_gene_variant SKCA-BR 20 55029859 55029859 single base substitution C T intron_variant SKCA-BR 20 55029910 55029910 single base substitution C T downstream_gene_variant SKCA-BR 20 55029910 55029910 single base substitution C T intron_variant SKCA-BR 20 55029976 55029976 single base substitution G A downstream_gene_variant SKCA-BR 20 55029976 55029976 single base substitution G A intron_variant SKCA-BR 20 55030189 55030189 insertion of <=200bp - TAA downstream_gene_variant SKCA-BR 20 55030189 55030189 insertion of <=200bp - TAA intron_variant SKCA-BR 20 55030189 55030189 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 20 55030189 55030189 insertion of <=200bp - TA intron_variant SKCA-BR 20 55031821 55031821 single base substitution A T downstream_gene_variant SKCA-BR 20 55031821 55031821 single base substitution A T intron_variant SKCA-BR 20 55033711 55033711 single base substitution A C downstream_gene_variant SKCA-BR 20 55033711 55033711 single base substitution A C missense_variant T320P 958A>C SKCA-BR 20 55033711 55033711 single base substitution A C missense_variant T757P 2269A>C SKCA-BR 20 55033818 55033818 single base substitution C T 3_prime_UTR_variant SKCA-BR 20 55033818 55033818 single base substitution C T downstream_gene_variant SKCA-BR 20 55034041 55034041 single base substitution G A 3_prime_UTR_variant SKCA-BR 20 55034041 55034041 single base substitution G A downstream_gene_variant SKCA-BR 20 55034683 55034683 single base substitution G A downstream_gene_variant SKCA-BR 20 55034766 55034766 single base substitution T C downstream_gene_variant SKCA-BR 20 55035007 55035007 single base substitution G A downstream_gene_variant SKCA-BR 20 55035331 55035331 single base substitution A G downstream_gene_variant SKCA-BR 20 55036023 55036023 single base substitution G A downstream_gene_variant SKCA-BR 20 55036616 55036616 single base substitution G A downstream_gene_variant SKCA-BR 20 55037745 55037745 single base substitution C T downstream_gene_variant SKCA-BR 20 55037843 55037843 single base substitution G A downstream_gene_variant SKCA-BR 20 55038351 55038351 single base substitution G A downstream_gene_variant SKCA-BR 20 55038359 55038360 deletion of <=200bp CT - downstream_gene_variant SKCM-US 20 55012289 55012289 single base substitution G A exon_variant SKCM-US 20 55012289 55012289 single base substitution G A missense_variant D36N 106G>A SKCM-US 20 55012333 55012333 single base substitution T C exon_variant SKCM-US 20 55012333 55012333 single base substitution T C synonymous_variant G50G 150T>C SKCM-US 20 55012393 55012393 single base substitution C T exon_variant SKCM-US 20 55012393 55012393 single base substitution C T synonymous_variant I70I 210C>T SKCM-US 20 55012399 55012399 single base substitution G A exon_variant SKCM-US 20 55012399 55012399 single base substitution G A synonymous_variant T72T 216G>A SKCM-US 20 55012445 55012445 single base substitution G A exon_variant SKCM-US 20 55012445 55012445 single base substitution G A missense_variant E88K 262G>A SKCM-US 20 55012536 55012536 single base substitution G A exon_variant SKCM-US 20 55012536 55012536 single base substitution G A missense_variant S118N 353G>A SKCM-US 20 55012539 55012539 single base substitution G T exon_variant SKCM-US 20 55012539 55012539 single base substitution G T missense_variant W119L 356G>T SKCM-US 20 55012582 55012582 single base substitution C T exon_variant SKCM-US 20 55012582 55012582 single base substitution C T synonymous_variant F133F 399C>T SKCM-US 20 55012584 55012584 single base substitution C T exon_variant SKCM-US 20 55012584 55012584 single base substitution C T missense_variant P134L 401C>T SKCM-US 20 55012585 55012585 single base substitution C T exon_variant SKCM-US 20 55012585 55012585 single base substitution C T synonymous_variant P134P 402C>T SKCM-US 20 55012616 55012616 single base substitution G A exon_variant SKCM-US 20 55012616 55012616 single base substitution G A missense_variant E145K 433G>A SKCM-US 20 55020983 55020983 single base substitution C T exon_variant SKCM-US 20 55020983 55020983 single base substitution C T missense_variant R163W 487C>T SKCM-US 20 55026876 55026876 single base substitution G A intron_variant SKCM-US 20 55026876 55026876 single base substitution G A missense_variant G215E 644G>A SKCM-US 20 55026876 55026876 single base substitution G A splice_region_variant SKCM-US 20 55026928 55026928 single base substitution C T exon_variant SKCM-US 20 55026928 55026928 single base substitution C T intron_variant SKCM-US 20 55026928 55026928 single base substitution C T synonymous_variant S232S 696C>T SKCM-US 20 55027037 55027037 single base substitution C T exon_variant SKCM-US 20 55027037 55027037 single base substitution C T intron_variant SKCM-US 20 55027037 55027037 single base substitution C T missense_variant P269S 805C>T SKCM-US 20 55027160 55027160 single base substitution C T exon_variant SKCM-US 20 55027160 55027160 single base substitution C T intron_variant SKCM-US 20 55027160 55027160 single base substitution C T missense_variant P310S 928C>T SKCM-US 20 55027196 55027196 single base substitution C T exon_variant SKCM-US 20 55027196 55027196 single base substitution C T intron_variant SKCM-US 20 55027196 55027196 single base substitution C T missense_variant P322S 964C>T SKCM-US 20 55027236 55027236 single base substitution T A exon_variant SKCM-US 20 55027236 55027236 single base substitution T A intron_variant SKCM-US 20 55027236 55027236 single base substitution T A missense_variant F335Y 1004T>A SKCM-US 20 55027248 55027248 single base substitution G A exon_variant SKCM-US 20 55027248 55027248 single base substitution G A intron_variant SKCM-US 20 55027248 55027248 single base substitution G A missense_variant R339Q 1016G>A SKCM-US 20 55027325 55027325 single base substitution G A exon_variant SKCM-US 20 55027325 55027325 single base substitution G A intron_variant SKCM-US 20 55027325 55027325 single base substitution G A missense_variant E365K 1093G>A SKCM-US 20 55027342 55027342 single base substitution G A exon_variant SKCM-US 20 55027342 55027342 single base substitution G A intron_variant SKCM-US 20 55027342 55027342 single base substitution G A synonymous_variant K370K 1110G>A SKCM-US 20 55027387 55027387 single base substitution C T exon_variant SKCM-US 20 55027387 55027387 single base substitution C T intron_variant SKCM-US 20 55027387 55027387 single base substitution C T synonymous_variant S385S 1155C>T SKCM-US 20 55027409 55027409 single base substitution C T exon_variant SKCM-US 20 55027409 55027409 single base substitution C T intron_variant SKCM-US 20 55027409 55027409 single base substitution C T missense_variant P393S 1177C>T SKCM-US 20 55027464 55027464 single base substitution C T exon_variant SKCM-US 20 55027464 55027464 single base substitution C T intron_variant SKCM-US 20 55027464 55027464 single base substitution C T missense_variant S411F 1232C>T SKCM-US 20 55027537 55027537 single base substitution G A exon_variant SKCM-US 20 55027537 55027537 single base substitution G A intron_variant SKCM-US 20 55027537 55027537 single base substitution G A synonymous_variant L435L 1305G>A SKCM-US 20 55027732 55027732 single base substitution C T exon_variant SKCM-US 20 55027732 55027732 single base substitution C T intron_variant SKCM-US 20 55027732 55027732 single base substitution C T synonymous_variant V500V 1500C>T SKCM-US 20 55027835 55027835 single base substitution G A exon_variant SKCM-US 20 55027835 55027835 single base substitution G A intron_variant SKCM-US 20 55027835 55027835 single base substitution G A missense_variant E535K 1603G>A SKCM-US 20 55027865 55027865 single base substitution G A exon_variant SKCM-US 20 55027865 55027865 single base substitution G A intron_variant SKCM-US 20 55027865 55027865 single base substitution G A missense_variant E545K 1633G>A SKCM-US 20 55027872 55027872 single base substitution T C exon_variant SKCM-US 20 55027872 55027872 single base substitution T C intron_variant SKCM-US 20 55027872 55027872 single base substitution T C missense_variant L547P 1640T>C SKCM-US 20 55028054 55028054 single base substitution T A exon_variant SKCM-US 20 55028054 55028054 single base substitution T A intron_variant SKCM-US 20 55028054 55028054 single base substitution T A missense_variant C608S 1822T>A SKCM-US 20 55028076 55028076 single base substitution C T exon_variant SKCM-US 20 55028076 55028076 single base substitution C T intron_variant SKCM-US 20 55028076 55028076 single base substitution C T missense_variant P615L 1844C>T SKCM-US 20 55028110 55028110 single base substitution C T exon_variant SKCM-US 20 55028110 55028110 single base substitution C T intron_variant SKCM-US 20 55028110 55028110 single base substitution C T synonymous_variant T626T 1878C>T SKCM-US 20 55028128 55028128 single base substitution G A exon_variant SKCM-US 20 55028128 55028128 single base substitution G A intron_variant SKCM-US 20 55028128 55028128 single base substitution G A synonymous_variant R632R 1896G>A SKCM-US 20 55033445 55033445 single base substitution G A downstream_gene_variant SKCM-US 20 55033445 55033445 single base substitution G A missense_variant R231K 692G>A SKCM-US 20 55033445 55033445 single base substitution G A missense_variant R668K 2003G>A SKCM-US 20 55033446 55033446 single base substitution G A downstream_gene_variant SKCM-US 20 55033446 55033446 single base substitution G A synonymous_variant R231R 693G>A SKCM-US 20 55033446 55033446 single base substitution G A synonymous_variant R668R 2004G>A SKCM-US 20 55033569 55033569 single base substitution C T downstream_gene_variant SKCM-US 20 55033569 55033569 single base substitution C T synonymous_variant V272V 816C>T SKCM-US 20 55033569 55033569 single base substitution C T synonymous_variant V709V 2127C>T SKCM-US 20 55033636 55033636 single base substitution G A downstream_gene_variant SKCM-US 20 55033636 55033636 single base substitution G A missense_variant E295K 883G>A SKCM-US 20 55033636 55033636 single base substitution G A missense_variant E732K 2194G>A SKCM-US 20 55033678 55033678 single base substitution G T downstream_gene_variant SKCM-US 20 55033678 55033678 single base substitution G T missense_variant D309Y 925G>T SKCM-US 20 55033678 55033678 single base substitution G T missense_variant D746Y 2236G>T SKCM-US 20 55033727 55033727 single base substitution C T downstream_gene_variant SKCM-US 20 55033727 55033727 single base substitution C T missense_variant A325V 974C>T SKCM-US 20 55033727 55033727 single base substitution C T missense_variant A762V 2285C>T SKCM-US 20 55033749 55033749 single base substitution G A downstream_gene_variant SKCM-US 20 55033749 55033749 single base substitution G A synonymous_variant A332A 996G>A SKCM-US 20 55033749 55033749 single base substitution G A synonymous_variant A769A 2307G>A STAD-US 20 55012423 55012423 deletion of <=200bp C - exon_variant STAD-US 20 55012423 55012423 deletion of <=200bp C - frameshift_variant C80 STAD-US 20 55012497 55012497 single base substitution G A exon_variant STAD-US 20 55012497 55012497 single base substitution G A missense_variant R105H 314G>A STAD-US 20 55012519 55012519 single base substitution T G exon_variant STAD-US 20 55012519 55012519 single base substitution T G synonymous_variant V112V 336T>G STAD-US 20 55012542 55012542 single base substitution C T exon_variant STAD-US 20 55012542 55012542 single base substitution C T missense_variant A120V 359C>T STAD-US 20 55027023 55027023 single base substitution C T exon_variant STAD-US 20 55027023 55027023 single base substitution C T intron_variant STAD-US 20 55027023 55027023 single base substitution C T missense_variant A264V 791C>T STAD-US 20 55027043 55027043 single base substitution G A exon_variant STAD-US 20 55027043 55027043 single base substitution G A intron_variant STAD-US 20 55027043 55027043 single base substitution G A missense_variant A271T 811G>A STAD-US 20 55027197 55027197 single base substitution C A exon_variant STAD-US 20 55027197 55027197 single base substitution C A intron_variant STAD-US 20 55027197 55027197 single base substitution C A missense_variant P322H 965C>A STAD-US 20 55027211 55027211 single base substitution G A exon_variant STAD-US 20 55027211 55027211 single base substitution G A intron_variant STAD-US 20 55027211 55027211 single base substitution G A missense_variant V327I 979G>A STAD-US 20 55027331 55027331 single base substitution G A exon_variant STAD-US 20 55027331 55027331 single base substitution G A intron_variant STAD-US 20 55027331 55027331 single base substitution G A missense_variant E367K 1099G>A STAD-US 20 55027385 55027385 single base substitution T C exon_variant STAD-US 20 55027385 55027385 single base substitution T C intron_variant STAD-US 20 55027385 55027385 single base substitution T C missense_variant S385P 1153T>C STAD-US 20 55027707 55027707 single base substitution A T exon_variant STAD-US 20 55027707 55027707 single base substitution A T intron_variant STAD-US 20 55027707 55027707 single base substitution A T missense_variant E492V 1475A>T STAD-US 20 55027827 55027827 single base substitution A G exon_variant STAD-US 20 55027827 55027827 single base substitution A G intron_variant STAD-US 20 55027827 55027827 single base substitution A G missense_variant E532G 1595A>G STAD-US 20 55033451 55033451 single base substitution C A downstream_gene_variant STAD-US 20 55033451 55033451 single base substitution C A missense_variant P233H 698C>A STAD-US 20 55033451 55033451 single base substitution C A missense_variant P670H 2009C>A STAD-US 20 55033513 55033513 single base substitution C T downstream_gene_variant STAD-US 20 55033513 55033513 single base substitution C T missense_variant H254Y 760C>T STAD-US 20 55033513 55033513 single base substitution C T missense_variant H691Y 2071C>T STAD-US 20 55033575 55033575 single base substitution G A downstream_gene_variant STAD-US 20 55033575 55033575 single base substitution G A missense_variant M274I 822G>A STAD-US 20 55033575 55033575 single base substitution G A missense_variant M711I 2133G>A STAD-US 20 55033576 55033576 single base substitution G T downstream_gene_variant STAD-US 20 55033576 55033576 single base substitution G T missense_variant V275L 823G>T STAD-US 20 55033576 55033576 single base substitution G T missense_variant V712L 2134G>T STAD-US 20 55033646 55033646 single base substitution G A downstream_gene_variant STAD-US 20 55033646 55033646 single base substitution G A missense_variant R298H 893G>A STAD-US 20 55033646 55033646 single base substitution G A missense_variant R735H 2204G>A STAD-US 20 55033652 55033652 single base substitution G A downstream_gene_variant STAD-US 20 55033652 55033652 single base substitution G A missense_variant S300N 899G>A STAD-US 20 55033652 55033652 single base substitution G A missense_variant S737N 2210G>A STAD-US 20 55033681 55033681 single base substitution G A downstream_gene_variant STAD-US 20 55033681 55033681 single base substitution G A missense_variant V310I 928G>A STAD-US 20 55033681 55033681 single base substitution G A missense_variant V747I 2239G>A THCA-SA 20 55033476 55033476 single base substitution C G downstream_gene_variant THCA-SA 20 55033476 55033476 single base substitution C G synonymous_variant L241L 723C>G THCA-SA 20 55033476 55033476 single base substitution C G synonymous_variant L678L 2034C>G THCA-SA 20 55033635 55033635 single base substitution C T downstream_gene_variant THCA-SA 20 55033635 55033635 single base substitution C T synonymous_variant N294N 882C>T THCA-SA 20 55033635 55033635 single base substitution C T synonymous_variant N731N 2193C>T THCA-SA 20 55033647 55033647 single base substitution T C downstream_gene_variant THCA-SA 20 55033647 55033647 single base substitution T C synonymous_variant R298R 894T>C THCA-SA 20 55033647 55033647 single base substitution T C synonymous_variant R735R 2205T>C THCA-SA 20 55033713 55033713 single base substitution G A downstream_gene_variant THCA-SA 20 55033713 55033713 single base substitution G A synonymous_variant T320T 960G>A THCA-SA 20 55033713 55033713 single base substitution G A synonymous_variant T757T 2271G>A THCA-SA 20 55033856 55033856 single base substitution A C 3_prime_UTR_variant THCA-SA 20 55033856 55033856 single base substitution A C downstream_gene_variant UCEC-US 20 55012467 55012467 single base substitution A G exon_variant UCEC-US 20 55012467 55012467 single base substitution A G missense_variant E95G 284A>G UCEC-US 20 55012496 55012496 single base substitution C T exon_variant UCEC-US 20 55012496 55012496 single base substitution C T missense_variant R105C 313C>T UCEC-US 20 55012583 55012583 single base substitution C T exon_variant UCEC-US 20 55012583 55012583 single base substitution C T missense_variant P134S 400C>T UCEC-US 20 55027208 55027208 single base substitution G T exon_variant UCEC-US 20 55027208 55027208 single base substitution G T intron_variant UCEC-US 20 55027208 55027208 single base substitution G T missense_variant D326Y 976G>T UCEC-US 20 55027225 55027225 single base substitution T A exon_variant UCEC-US 20 55027225 55027225 single base substitution T A intron_variant UCEC-US 20 55027225 55027225 single base substitution T A synonymous_variant V331V 993T>A UCEC-US 20 55027243 55027243 single base substitution T C exon_variant UCEC-US 20 55027243 55027243 single base substitution T C intron_variant UCEC-US 20 55027243 55027243 single base substitution T C synonymous_variant I337I 1011T>C UCEC-US 20 55027303 55027303 single base substitution G A exon_variant UCEC-US 20 55027303 55027303 single base substitution G A intron_variant UCEC-US 20 55027303 55027303 single base substitution G A synonymous_variant S357S 1071G>A UCEC-US 20 55027369 55027369 single base substitution T C exon_variant UCEC-US 20 55027369 55027369 single base substitution T C intron_variant UCEC-US 20 55027369 55027369 single base substitution T C synonymous_variant H379H 1137T>C UCEC-US 20 55027495 55027495 single base substitution C A exon_variant UCEC-US 20 55027495 55027495 single base substitution C A intron_variant UCEC-US 20 55027495 55027495 single base substitution C A synonymous_variant S421S 1263C>A UCEC-US 20 55027676 55027676 single base substitution T C exon_variant UCEC-US 20 55027676 55027676 single base substitution T C intron_variant UCEC-US 20 55027676 55027676 single base substitution T C missense_variant S482P 1444T>C UCEC-US 20 55027850 55027850 single base substitution C T exon_variant UCEC-US 20 55027850 55027850 single base substitution C T intron_variant UCEC-US 20 55027850 55027850 single base substitution C T missense_variant R540C 1618C>T UCEC-US 20 55027941 55027941 single base substitution C T exon_variant UCEC-US 20 55027941 55027941 single base substitution C T intron_variant UCEC-US 20 55027941 55027941 single base substitution C T missense_variant P570L 1709C>T UCEC-US 20 55028000 55028000 single base substitution C T exon_variant UCEC-US 20 55028000 55028000 single base substitution C T intron_variant UCEC-US 20 55028000 55028000 single base substitution C T missense_variant R590W 1768C>T UCEC-US 20 55028061 55028061 single base substitution A C exon_variant UCEC-US 20 55028061 55028061 single base substitution A C intron_variant UCEC-US 20 55028061 55028061 single base substitution A C missense_variant K610T 1829A>C UCEC-US 20 55033400 55033400 single base substitution C A downstream_gene_variant UCEC-US 20 55033400 55033400 single base substitution C A missense_variant P216H 647C>A UCEC-US 20 55033400 55033400 single base substitution C A missense_variant P653H 1958C>A UCEC-US 20 55033421 55033421 single base substitution C T downstream_gene_variant UCEC-US 20 55033421 55033421 single base substitution C T missense_variant P223L 668C>T UCEC-US 20 55033421 55033421 single base substitution C T missense_variant P660L 1979C>T UCEC-US 20 55033505 55033505 single base substitution G T downstream_gene_variant UCEC-US 20 55033505 55033505 single base substitution G T missense_variant S251I 752G>T UCEC-US 20 55033505 55033505 single base substitution G T missense_variant S688I 2063G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand OSCC-GB_01130111 COSM5954764 c.308T>C p.L103P Substitution - Missense 20:56437435-56437435 + 13542 COSM724094 c.1550G>T p.R517L Substitution - Missense 20:56452726-56452726 + TCGA-G4-6628-01 COSM1412632 c.1623T>A p.N541K Substitution - Missense 20:56452799-56452799 + ESCC-233T COSM3939415 c.1878C>T p.T626T Substitution - coding silent 20:56453054-56453054 + TCGA-61-2104-01 COSM119912 c.488G>A p.R163Q Substitution - Missense 20:56445928-56445928 + TCGA-22-1012-01 COSM724097 c.1489G>T p.A497S Substitution - Missense 20:56452665-56452665 + GC9_T COSM150881 c.1688delT p.V563fs*38 Deletion - Frameshift 20:56452864-56452864 + TCGA-D3-A2JL-06 COSM3548030 c.150T>C p.G50G Substitution - coding silent 20:56437277-56437277 + CSCC-29-T COSM4529581 c.1625G>A p.W542* Substitution - Nonsense 20:56452801-56452801 + ESO-185 COSM1247381 c.545G>A p.G182D Substitution - Missense 20:56445985-56445985 + LS180 COSM2763988 c.1332G>T p.V444V Substitution - coding silent 20:56452508-56452508 + LUAD-RT-S01818 COSM384008 c.558G>A p.L186L Substitution - coding silent 20:56445998-56445998 + TCGA-D3-A2JK-06 COSM1533957 c.2307G>A p.A769A Substitution - coding silent 20:56458693-56458693 + ME016T COSM225087 c.655C>T p.P219S Substitution - Missense 20:56451831-56451831 + TCGA-GN-A267-06 COSM3548047 c.1844C>T p.P615L Substitution - Missense 20:56453020-56453020 + TCGA-BP-5010-01 COSM478317 c.1613A>G p.D538G Substitution - Missense 20:56452789-56452789 + C086 COSM5528161 c.2199C>T p.I733I Substitution - coding silent 20:56458585-56458585 + TCGA-C5-A1BI-01 COSM4841574 c.1099G>C p.E367Q Substitution - Missense 20:56452275-56452275 + B89-3-Tumor COSM1751510 c.568G>A p.E190K Substitution - Missense 20:56450605-56450605 + SC_9056 COSM5562833 c.2097C>T p.P699P Substitution - coding silent 20:56458483-56458483 + HT115 COSM2763975 c.1089G>A p.G363G Substitution - coding silent 20:56452265-56452265 + TCGA-13-0920-01 COSM74017 c.760A>T p.S254C Substitution - Missense 20:56451936-56451936 + TCGA-22-4591-01 COSM724098 c.1315G>A p.V439M Substitution - Missense 20:56452491-56452491 + PD7321a COSM5769198 c.903G>C p.Q301H Substitution - Missense 20:56452079-56452079 + pfg019T COSM1641385 c.1067C>T p.T356M Substitution - Missense 20:56452243-56452243 + J65_T COSM3963686 c.1551G>T p.R517R Substitution - coding silent 20:56452727-56452727 + TCGA-BG-A0VZ-01 COSM1028274 c.490G>A p.A164T Substitution - Missense 20:56445930-56445930 + TCGA-FP-7829-01 COSM4099655 c.2071C>T p.H691Y Substitution - Missense 20:56458457-56458457 + Pat_14_A COSM5858150 c.1862C>T p.S621L Substitution - Missense 20:56453038-56453038 + RMS109_ COSM4986781 c.1703T>G p.M568R Substitution - Missense 20:56452879-56452879 + LUAD-S01315 COSM345152 c.1250C>G p.S417C Substitution - Missense 20:56452426-56452426 + Pat_63_B COSM3548049 c.2003G>A p.R668K Substitution - Missense 20:56458389-56458389 + OSCC-GB_01120111 COSM4429214 c.96C>T p.F32F Substitution - coding silent 20:56437223-56437223 + D11 COSM4099647 c.791C>T p.A264V Substitution - Missense 20:56451967-56451967 + TCGA-DM-A28H-01 COSM1412628 c.1208C>G p.S403C Substitution - Missense 20:56452384-56452384 + 2521262 COSM5892429 c.1012C>T p.P338S Substitution - Missense 20:56452188-56452188 + TCGA-G4-6306-01 COSM1412629 c.1254C>T p.T418T Substitution - coding silent 20:56452430-56452430 + 2492709 COSM5718119 c.994C>T p.P332S Substitution - Missense 20:56452170-56452170 + ME009T COSM224056 c.1085C>T p.A362V Substitution - Missense 20:56452261-56452261 + CSCC-6-T COSM4563444 c.973G>C p.E325Q Substitution - Missense 20:56452149-56452149 + TCGA-FW-A3R5-06 COSM3911634 c.433G>A p.E145K Substitution - Missense 20:56437560-56437560 + TCGA-FW-A3R5-06 COSM3911638 c.1633G>A p.E545K Substitution - Missense 20:56452809-56452809 + PGBM15PT COSM1580019 c.2288C>T p.A763V Substitution - Missense 20:56458674-56458674 + ZZUFHECRKL-G067T COSM2763974 c.1088G>A p.G363E Substitution - Missense 20:56452264-56452264 + TCGA-AZ-6598-01 COSM1412622 c.99C>T p.S33S Substitution - coding silent 20:56437226-56437226 + TCGA-BG-A0VW-01 COSM1028284 c.1768C>T p.R590W Substitution - Missense 20:56452944-56452944 + J30_T COSM3963684 c.1361C>A p.S454Y Substitution - Missense 20:56452537-56452537 + COLO678 COSM2764021 c.2333C>T p.T778M Substitution - Missense 20:56458719-56458719 + TCGA-D3-A51G-06 COSM3548048 c.1896G>A p.R632R Substitution - coding silent 20:56453072-56453072 + TCGA-22-4591-01 COSM724088 c.2348G>C p.G783A Substitution - Missense 20:56458734-56458734 + pfg036T COSM4755581 c.1047T>G p.I349M Substitution - Missense 20:56452223-56452223 + GB07 COSM1742927 c.2346A>G p.R782R Substitution - coding silent 20:56458732-56458732 + Sample_1 COSM4997595 c.1130C>T p.A377V Substitution - Missense 20:56452306-56452306 + C086 COSM5528160 c.1733C>T p.S578F Substitution - Missense 20:56452909-56452909 + TCGA-AA-3663-01 COSM1412630 c.1363G>A p.V455I Substitution - Missense 20:56452539-56452539 + T3337 COSM3841355 c.1070C>T p.S357L Substitution - Missense 20:56452246-56452246 + 753-01-5TD COSM5419025 c.2238C>T p.D746D Substitution - coding silent 20:56458624-56458624 + Gp5D COSM2764019 c.2273A>G p.Y758C Substitution - Missense 20:56458659-56458659 + sysucc-966T COSM1533957 c.2307G>A p.A769A Substitution - coding silent 20:56458693-56458693 + 2492712 COSM1412626 c.1128C>T p.S376S Substitution - coding silent 20:56452304-56452304 + PT50 COSM5937853 c.1160G>A p.R387Q Substitution - Missense 20:56452336-56452336 + TCGA-EE-A29D-06 COSM2763956 c.402C>T p.P134P Substitution - coding silent 20:56437529-56437529 + I2L-P28-Tumor-Organoid COSM5366038 c.1918C>G p.L640V Substitution - Missense 20:56453094-56453094 + TCGA-CD-5801-01 COSM4099646 c.336T>G p.V112V Substitution - coding silent 20:56437463-56437463 + TCGA-FW-A3R5-06 COSM3911633 c.401C>T p.P134L Substitution - Missense 20:56437528-56437528 + 8048309 COSM3389843 c.181G>A p.G61S Substitution - Missense 20:56437308-56437308 + TCGA-AZ-4315-01 COSM1412623 c.394G>T p.E132* Substitution - Nonsense 20:56437521-56437521 + TCGA-61-1911-01 COSM1327552 c.2064C>T p.S688S Substitution - coding silent 20:56458450-56458450 + Pat_46_A COSM5858152 c.2071C>A p.H691N Substitution - Missense 20:56458457-56458457 + PTC-7C COSM4134672 c.135G>A p.V45V Substitution - coding silent 20:56437262-56437262 + TCGA-B5-A11E-01 COSM1028288 c.2063G>T p.S688I Substitution - Missense 20:56458449-56458449 + TCGA-BR-8591-01 COSM4099660 c.2239G>A p.V747I Substitution - Missense 20:56458625-56458625 + TCGA-EE-A29D-06 COSM3548046 c.1822T>A p.C608S Substitution - Missense 20:56452998-56452998 + TCGA-EE-A3J5-06 COSM3548034 c.399C>T p.F133F Substitution - coding silent 20:56437526-56437526 + TCGA-B5-A11E-01 COSM1028287 c.1979C>T p.P660L Substitution - Missense 20:56458365-56458365 + TCGA-BR-8591-01 COSM4099647 c.791C>T p.A264V Substitution - Missense 20:56451967-56451967 + TCGA-AN-A046-01 COSM3841355 c.1070C>T p.S357L Substitution - Missense 20:56452246-56452246 + TCGA-DD-A119-01 COSM4919808 c.617T>C p.L206P Substitution - Missense 20:56450654-56450654 + PTC-14C COSM4134677 c.2256G>T p.K752N Substitution - Missense 20:56458642-56458642 + CSCC-16-T COSM4569445 c.1764T>A p.F588L Substitution - Missense 20:56452940-56452940 + TCGA-D3-A1QA-06 COSM3548040 c.1093G>A p.E365K Substitution - Missense 20:56452269-56452269 + 2492720 COSM5723140 c.1400G>A p.R467K Substitution - Missense 20:56452576-56452576 + TCGA-21-1076-01 COSM724093 c.1571C>A p.S524Y Substitution - Missense 20:56452747-56452747 + TCGA-EE-A29E-06 COSM3548038 c.1004T>A p.F335Y Substitution - Missense 20:56452180-56452180 + CRC-19T COSM5481602 c.525C>T p.D175D Substitution - coding silent 20:56445965-56445965 + TCGA-CA-6718-01 COSM1412626 c.1128C>T p.S376S Substitution - coding silent 20:56452304-56452304 + TCGA-06-0645 COSM2151262 c.1640T>C p.L547P Substitution - Missense 20:56452816-56452816 + AOCS-112-1-2 COSM4137058 c.505C>T p.L169L Substitution - coding silent 20:56445945-56445945 + TCGA-60-2708-01 COSM724094 c.1550G>T p.R517L Substitution - Missense 20:56452726-56452726 + TCGA-46-3769-01 COSM724102 c.811G>T p.A271S Substitution - Missense 20:56451987-56451987 + TCGA-EE-A3JD-06 COSM4396876 c.805C>T p.P269S Substitution - Missense 20:56451981-56451981 + ME011T COSM224595 c.1956T>A p.N652K Substitution - Missense 20:56458342-56458342 + OSCC-GB_01160111 COSM1412624 c.487C>T p.R163W Substitution - Missense 20:56445927-56445927 + TCGA-HF-7132-01 COSM3740191 c.811G>A p.A271T Substitution - Missense 20:56451987-56451987 + TCGA-D3-A3C7-06 COSM3548035 c.696C>T p.S232S Substitution - coding silent 20:56451872-56451872 + TCGA-60-2708-01 COSM724096 c.1549C>T p.R517W Substitution - Missense 20:56452725-56452725 + TCGA-CD-8529-01 COSM4099654 c.2009C>A p.P670H Substitution - Missense 20:56458395-56458395 + TCGA-A6-6141-01 COSM724096 c.1549C>T p.R517W Substitution - Missense 20:56452725-56452725 + TCGA-B0-5098-01 COSM1495136 c.1149G>A p.W383* Substitution - Nonsense 20:56452325-56452325 + CSCC-62-T COSM4525152 c.1312G>A p.D438N Substitution - Missense 20:56452488-56452488 + TCGA-BS-A0UV-01 COSM1028278 c.1071G>A p.S357S Substitution - coding silent 20:56452247-56452247 + NBL9 COSM1283931 c.430T>A p.C144S Substitution - Missense 20:56437557-56437557 + 38T COSM3713327 c.1135C>A p.H379N Substitution - Missense 20:56452311-56452311 + PR-03-022 COSM243494 c.1048T>A p.Y350N Substitution - Missense 20:56452224-56452224 + HCC085T COSM1199676 c.1406G>A p.R469Q Substitution - Missense 20:56452582-56452582 + TCGA-AM-5820-01 COSM3758648 c.2193C>T p.N731N Substitution - coding silent 20:56458579-56458579 + T1154 COSM4669423 c.380C>T p.T127I Substitution - Missense 20:56437507-56437507 + TCGA-E1-5318-01 COSM3972625 c.2075G>A p.G692D Substitution - Missense 20:56458461-56458461 + CHEWS011 COSM4581902 c.626C>G p.P209R Substitution - Missense 20:56450663-56450663 + SW48 COSM2763950 c.272C>T p.P91L Substitution - Missense 20:56437399-56437399 + T3336 COSM4669421 c.76T>C p.C26R Substitution - Missense 20:56437203-56437203 + Pat_76_A COSM5858149 c.1282G>A p.E428K Substitution - Missense 20:56452458-56452458 + S0100 COSM5883599 c.1582C>G p.R528G Substitution - Missense 20:56452758-56452758 + TCGA-D9-A148-06 COSM3548044 c.1500C>T p.V500V Substitution - coding silent 20:56452676-56452676 + RK101_C01 COSM3701643 c.36G>T p.K12N Substitution - Missense 20:56412494-56412494 + TCGA-GL-A59R-01 COSM3991797 c.2217C>A p.H739Q Substitution - Missense 20:56458603-56458603 + TCGA-GF-A6C8-06 COSM3911635 c.644G>A p.G215E Substitution - Missense 20:56451820-56451820 + sysucc-834T COSM5486147 c.133G>A p.V45M Substitution - Missense 20:56437260-56437260 + TCGA-B5-A11N-01 COSM1028275 c.976G>T p.D326Y Substitution - Missense 20:56452152-56452152 + YUKAT COSM5392380 c.2245C>T p.L749L Substitution - coding silent 20:56458631-56458631 + QC2-32-T2 COSM3758647 c.2034C>G p.L678L Substitution - coding silent 20:56458420-56458420 + LUAD-CHTN-MAD06-00678 COSM360899 c.121C>A p.L41M Substitution - Missense 20:56437248-56437248 + TCGA-BS-A0TE-01 COSM1028283 c.1709C>T p.P570L Substitution - Missense 20:56452885-56452885 + 36 COSM724096 c.1549C>T p.R517W Substitution - Missense 20:56452725-56452725 + TCGA-EE-A2MS-06 COSM1412624 c.487C>T p.R163W Substitution - Missense 20:56445927-56445927 + TCGA-UB-A7MA-01 COSM4910060 c.229G>C p.D77H Substitution - Missense 20:56437356-56437356 + TCGA-EE-A29X-06 COSM3548033 c.353G>A p.S118N Substitution - Missense 20:56437480-56437480 + PT55 COSM225087 c.655C>T p.P219S Substitution - Missense 20:56451831-56451831 + TCGA-EE-A3AA-06 COSM3548032 c.216G>A p.T72T Substitution - coding silent 20:56437343-56437343 + RK230_C01 COSM4779585 c.459+5G>A p.? Unknown 20:56437591-56437591 + CSCC-31-T COSM4457702 c.1056C>T p.I352I Substitution - coding silent 20:56452232-56452232 + CSCC-31-T COSM4513295 c.932C>T p.S311F Substitution - Missense 20:56452108-56452108 + TCGA-66-2787-01 COSM724092 c.1644G>A p.V548V Substitution - coding silent 20:56452820-56452820 + PD14473a COSM5801125 c.240_241insC p.F83fs*32 Insertion - Frameshift 20:56437367-56437368 + HCC118T COSM5813556 c.1009A>T p.I337F Substitution - Missense 20:56452185-56452185 + TCGA-BR-6852-01 COSM2763952 c.314G>A p.R105H Substitution - Missense 20:56437441-56437441 + ESO-1133 COSM1247380 c.573G>A p.K191K Substitution - coding silent 20:56450610-56450610 + TCGA-EE-A29M-06 COSM3548039 c.1016G>A p.R339Q Substitution - Missense 20:56452192-56452192 + T3049 COSM4669424 c.710C>T p.P237L Substitution - Missense 20:56451886-56451886 + WA16 COSM239160 c.938G>A p.G313D Substitution - Missense 20:56452114-56452114 + TCGA-GN-A26D-06 COSM3548052 c.2236G>T p.D746Y Substitution - Missense 20:56458622-56458622 + 587284 COSM1199677 c.499C>T p.P167S Substitution - Missense 20:56445939-56445939 + 2521249 COSM5888460 c.1895G>A p.R632K Substitution - Missense 20:56453071-56453071 + LP6005409-DNA_G03 COSM4409174 c.512C>T p.S171F Substitution - Missense 20:56445952-56445952 + TCGA-DK-A2I4-01 COSM3799684 c.2113C>T p.Q705* Substitution - Nonsense 20:56458499-56458499 + 8035740 COSM3389844 c.564G>T p.E188D Substitution - Missense 20:56450601-56450601 + CSCC-29-T COSM4530297 c.1687G>T p.V563F Substitution - Missense 20:56452863-56452863 + TCGA-D5-6533-01 COSM1412631 c.1493G>A p.R498Q Substitution - Missense 20:56452669-56452669 + 2492710 COSM5718119 c.994C>T p.P332S Substitution - Missense 20:56452170-56452170 + TCGA-EE-A2GC-06 COSM3548043 c.1305G>A p.L435L Substitution - coding silent 20:56452481-56452481 + TCGA-27-2524-01 COSM3405221 c.2060T>A p.I687N Substitution - Missense 20:56458446-56458446 + 2218458 COSM4421150 c.1211A>G p.D404G Substitution - Missense 20:56452387-56452387 + LUAD-F00257 COSM366907 c.1232C>A p.S411Y Substitution - Missense 20:56452408-56452408 + PTC-28C COSM4134673 c.409C>T p.P137S Substitution - Missense 20:56437536-56437536 + NPC15F COSM2763949 c.199C>T p.R67C Substitution - Missense 20:56437326-56437326 + TCGA-CA-6717-01 COSM1412633 c.1828A>G p.K610E Substitution - Missense 20:56453004-56453004 + 2521243 COSM3548045 c.1603G>A p.E535K Substitution - Missense 20:56452779-56452779 + TCGA-D8-A1J8-01 COSM3841354 c.784A>G p.S262G Substitution - Missense 20:56451960-56451960 + ESO-717 COSM1242092 c.2188C>T p.R730C Substitution - Missense 20:56458574-56458574 + TCGA-EE-A29D-06 COSM3548037 c.964C>T p.P322S Substitution - Missense 20:56452140-56452140 + TCGA-BR-4280-01 COSM4099648 c.965C>A p.P322H Substitution - Missense 20:56452141-56452141 + TCGA-FS-A1Z4-06 COSM3911631 c.262G>A p.E88K Substitution - Missense 20:56437389-56437389 + sysucc-1062T COSM5763256 c.1668A>G p.P556P Substitution - coding silent 20:56452844-56452844 + TCGA-66-2773-01 COSM724103 c.669G>A p.V223V Substitution - coding silent 20:56451845-56451845 + TCGA-EE-A2GM-06 COSM3548032 c.216G>A p.T72T Substitution - coding silent 20:56437343-56437343 + PTC-28C COSM4134674 c.411C>A p.P137P Substitution - coding silent 20:56437538-56437538 + TCGA-AP-A0LF-01 COSM1028273 c.400C>T p.P134S Substitution - Missense 20:56437527-56437527 + PCSI_0264_Pa_P_526 COSM4965613 c.520T>C p.Y174H Substitution - Missense 20:56445960-56445960 + YUKAT COSM5392379 c.1301C>T p.S434F Substitution - Missense 20:56452477-56452477 + 587222 COSM1199676 c.1406G>A p.R469Q Substitution - Missense 20:56452582-56452582 + TCGA-FS-A4F9-06 COSM3548045 c.1603G>A p.E535K Substitution - Missense 20:56452779-56452779 + MI1 COSM1165151 c.1278G>A p.S426S Substitution - coding silent 20:56452454-56452454 + TCGA-A5-A0G3-01 COSM1028271 c.284A>G p.E95G Substitution - Missense 20:56437411-56437411 + TCGA-BW-A5NO-01 COSM4933222 c.293A>G p.Y98C Substitution - Missense 20:56437420-56437420 + YULOCUS COSM5392378 c.965C>T p.P322L Substitution - Missense 20:56452141-56452141 + PTC-28C COSM4134675 c.414C>A p.T138T Substitution - coding silent 20:56437541-56437541 + CHC892T COSM4960935 c.460G>A p.A154T Substitution - Missense 20:56445900-56445900 + B89-3 COSM1751510 c.568G>A p.E190K Substitution - Missense 20:56450605-56450605 + TCGA-FS-A1ZB-06 COSM3548042 c.1177C>T p.P393S Substitution - Missense 20:56452353-56452353 + TCGA-EE-A2GH-06 COSM3911639 c.2004G>A p.R668R Substitution - coding silent 20:56458390-56458390 + ATL074 COSM2763949 c.199C>T p.R67C Substitution - Missense 20:56437326-56437326 + LP6007594 COSM4966164 c.2157G>A p.T719T Substitution - coding silent 20:56458543-56458543 + TCGA-EE-A2MJ-06 COSM3548049 c.2003G>A p.R668K Substitution - Missense 20:56458389-56458389 + ATL022 COSM5707492 c.1145C>A p.S382* Substitution - Nonsense 20:56452321-56452321 + TCGA-B5-A0K6-01 COSM1028272 c.313C>T p.R105C Substitution - Missense 20:56437440-56437440 + TCGA-CG-5733-01 COSM4099659 c.2210G>A p.S737N Substitution - Missense 20:56458596-56458596 + Au3 COSM2763975 c.1089G>A p.G363G Substitution - coding silent 20:56452265-56452265 + TCGA-AX-A05Z-01 COSM1028286 c.1958C>A p.P653H Substitution - Missense 20:56458344-56458344 + C008 COSM5522300 c.403G>T p.D135Y Substitution - Missense 20:56437530-56437530 + 2521262 COSM5892430 c.1274C>T p.S425F Substitution - Missense 20:56452450-56452450 + TCGA-HU-A4G8-01 COSM4099657 c.2134G>T p.V712L Substitution - Missense 20:56458520-56458520 + TCGA-EE-A29Q-06 COSM3548051 c.2194G>A p.E732K Substitution - Missense 20:56458580-56458580 + CLL096 COSM1291134 c.527T>A p.V176E Substitution - Missense 20:56445967-56445967 + QC2-32-T2 COSM3758646 c.1935G>A p.R645R Substitution - coding silent 20:56453111-56453111 + TCGA-AP-A059-01 COSM1028281 c.1444T>C p.S482P Substitution - Missense 20:56452620-56452620 + TCGA-AZ-4315-01 COSM1412635 c.2065G>A p.A689T Substitution - Missense 20:56458451-56458451 + 2492714 COSM1412626 c.1128C>T p.S376S Substitution - coding silent 20:56452304-56452304 + TCGA-AM-5820-01 COSM3758646 c.1935G>A p.R645R Substitution - coding silent 20:56453111-56453111 + TCGA-06-0645-01 COSM2151262 c.1640T>C p.L547P Substitution - Missense 20:56452816-56452816 + TCGA-BR-A4PF-01 COSM4099656 c.2133G>A p.M711I Substitution - Missense 20:56458519-56458519 + TCGA-E9-A229-01 COSM1483778 c.550G>A p.V184M Substitution - Missense 20:56445990-56445990 + TCGA-CG-4306-01 COSM2763953 c.359C>T p.A120V Substitution - Missense 20:56437486-56437486 + TCGA-DK-A1A5-01 COSM419333 c.816C>G p.L272L Substitution - coding silent 20:56451992-56451992 + HX5T COSM1615741 c.37-4A>T p.? Unknown 20:56437160-56437160 + TCGA-EE-A184-06 COSM3911632 c.356G>T p.W119L Substitution - Missense 20:56437483-56437483 + 40M COSM135889 c.1682G>A p.R561K Substitution - Missense 20:56452858-56452858 + 8036161 COSM3389845 c.1085C>A p.A362D Substitution - Missense 20:56452261-56452261 + TCGA-BR-7958-01 COSM4099649 c.979G>A p.V327I Substitution - Missense 20:56452155-56452155 + Single_Sample COSM4099647 c.791C>T p.A264V Substitution - Missense 20:56451967-56451967 + TCGA-22-4599-01 COSM724091 c.1740C>T p.V580V Substitution - coding silent 20:56452916-56452916 + TCGA-EE-A2GI-06 COSM2151262 c.1640T>C p.L547P Substitution - Missense 20:56452816-56452816 + YURAY COSM5392376 c.145G>A p.E49K Substitution - Missense 20:56437272-56437272 + MO_1008 COSM5564790 c.542G>A p.R181Q Substitution - Missense 20:56445982-56445982 + TCGA-D1-A17Q-01 COSM1028280 c.1263C>A p.S421S Substitution - coding silent 20:56452439-56452439 + Pat_76_B COSM5858149 c.1282G>A p.E428K Substitution - Missense 20:56452458-56452458 + CRC-1 COSM304244 c.2287G>A p.A763T Substitution - Missense 20:56458673-56458673 + HCT8 COSM2764001 c.1619G>A p.R540H Substitution - Missense 20:56452795-56452795 + CSCC-55-T COSM4525057 c.1306G>A p.D436N Substitution - Missense 20:56452482-56452482 + TCGA-AC-A23H-01 COSM3841353 c.714G>C p.Q238H Substitution - Missense 20:56451890-56451890 + J30_T COSM3963685 c.1384G>T p.V462F Substitution - Missense 20:56452560-56452560 + 2492722 COSM5723140 c.1400G>A p.R467K Substitution - Missense 20:56452576-56452576 + OSCC-GB_00410111 COSM3713292 c.477C>T p.P159P Substitution - coding silent 20:56445917-56445917 + Case3 COSM5711902 c.944_945delTT p.L315fs*10 Deletion - Frameshift 20:56452120-56452121 + TCGA-60-2726-01 COSM724089 c.2314G>A p.E772K Substitution - Missense 20:56458700-56458700 + TCGA-BR-A4PD-01 COSM4099650 c.1099G>A p.E367K Substitution - Missense 20:56452275-56452275 + TCGA-BR-6706-01 COSM4099652 c.1475A>T p.E492V Substitution - Missense 20:56452651-56452651 + NB-0230 COSM1283930 c.525C>G p.D175E Substitution - Missense 20:56445965-56445965 + TCGA-EE-A3AA-06 COSM3548041 c.1110G>A p.K370K Substitution - coding silent 20:56452286-56452286 + PT37 COSM3911635 c.644G>A p.G215E Substitution - Missense 20:56451820-56451820 + sysucc-274T COSM5476183 c.1433C>T p.A478V Substitution - Missense 20:56452609-56452609 + TCGA-AA-A004-01 COSM298182 c.2098G>A p.A700T Substitution - Missense 20:56458484-56458484 + TCGA-13-1484-01 COSM79604 c.2043G>A p.G681G Substitution - coding silent 20:56458429-56458429 + T3080 COSM4669425 c.2185G>A p.V729M Substitution - Missense 20:56458571-56458571 + TCGA-AP-A051-01 COSM1028277 c.1011T>C p.I337I Substitution - coding silent 20:56452187-56452187 + TCGA-EE-A29M-06 COSM3548053 c.2285C>T p.A762V Substitution - Missense 20:56458671-56458671 + ESCC-148T COSM3939414 c.1015C>T p.R339* Substitution - Nonsense 20:56452191-56452191 + HCT15 COSM2764001 c.1619G>A p.R540H Substitution - Missense 20:56452795-56452795 + TCGA-43-2578-01 COSM724090 c.2289G>T p.A763A Substitution - coding silent 20:56458675-56458675 + SNUH_G45_S1 COSM4001959 c.1978C>T p.P660S Substitution - Missense 20:56458364-56458364 + CSCC-4-T COSM4564290 c.1110_1111GG>AA p.E371K Substitution - Missense 20:56452286-56452287 + 41T COSM3713292 c.477C>T p.P159P Substitution - coding silent 20:56445917-56445917 + T2417 COSM4669422 c.200G>A p.R67H Substitution - Missense 20:56437327-56437327 + C086 COSM5528159 c.623C>T p.P208L Substitution - Missense 20:56450660-56450660 + 53M COSM5594355 c.1446C>T p.S482S Substitution - coding silent 20:56452622-56452622 + LUAD-CHTN-MAD06-00668 COSM359711 c.630C>A p.D210E Substitution - Missense 20:56450667-56450667 + TCGA-22-4599-01 COSM724099 c.948A>T p.V316V Substitution - coding silent 20:56452124-56452124 + CHC892T COSM4960935 c.460G>A p.A154T Substitution - Missense 20:56445900-56445900 + sysucc-882T COSM5447378 c.2289G>A p.A763A Substitution - coding silent 20:56458675-56458675 + TCGA-FS-A1ZA-06 COSM3548036 c.928C>T p.P310S Substitution - Missense 20:56452104-56452104 + TCGA-BG-A0VW-01 COSM1028282 c.1618C>T p.R540C Substitution - Missense 20:56452794-56452794 + 2492721 COSM5723140 c.1400G>A p.R467K Substitution - Missense 20:56452576-56452576 + Pat_04_A COSM5858151 c.1997C>T p.P666L Substitution - Missense 20:56458383-56458383 + 12T COSM110132 c.1518C>T p.N506N Substitution - coding silent 20:56452694-56452694 + CSCC-31-T COSM4477077 c.211C>A p.L71I Substitution - Missense 20:56437338-56437338 + TCGA-AP-A0LM-01 COSM1028276 c.993T>A p.V331V Substitution - coding silent 20:56452169-56452169 + RK119_C01 COSM3740191 c.811G>A p.A271T Substitution - Missense 20:56451987-56451987 + 35M COSM5580528 c.793G>A p.E265K Substitution - Missense 20:56451969-56451969 + 2521249 COSM5888459 c.332C>T p.P111L Substitution - Missense 20:56437459-56437459 + TCGA-G4-6315-01 COSM1412627 c.1180G>C p.E394Q Substitution - Missense 20:56452356-56452356 + OSCC-GB_00380111 COSM3713327 c.1135C>A p.H379N Substitution - Missense 20:56452311-56452311 + HCC022T COSM5817543 c.673A>G p.T225A Substitution - Missense 20:56451849-56451849 + 399 COSM4429214 c.96C>T p.F32F Substitution - coding silent 20:56437223-56437223 + DLD1 COSM2764001 c.1619G>A p.R540H Substitution - Missense 20:56452795-56452795 + TCGA-A6-5665-01 COSM724096 c.1549C>T p.R517W Substitution - Missense 20:56452725-56452725 + MO_1215 COSM5570192 c.1790C>A p.T597N Substitution - Missense 20:56452966-56452966 + 2334195 COSM319239 c.1804C>A p.P602T Substitution - Missense 20:56452980-56452980 + YUOTHO COSM5392377 c.222C>T p.V74V Substitution - coding silent 20:56437349-56437349 + LUAD-NYU669 COSM375740 c.1131G>T p.A377A Substitution - coding silent 20:56452307-56452307 + SJHGG003_A COSM4968809 c.561+4A>T p.? Unknown 20:56446005-56446005 + LUAD-NYU263 COSM372228 c.406C>A p.P136T Substitution - Missense 20:56437533-56437533 + 13542 COSM724096 c.1549C>T p.R517W Substitution - Missense 20:56452725-56452725 + 2492708 COSM5718119 c.994C>T p.P332S Substitution - Missense 20:56452170-56452170 + TCGA-AM-5820-01 COSM3758649 c.2271G>A p.T757T Substitution - coding silent 20:56458657-56458657 + TCGA-B5-A11E-01 COSM1028279 c.1137T>C p.H379H Substitution - coding silent 20:56452313-56452313 + ESCC_BICR_020T COSM2763952 c.314G>A p.R105H Substitution - Missense 20:56437441-56437441 + 2492723 COSM5723140 c.1400G>A p.R467K Substitution - Missense 20:56452576-56452576 + 8015277 COSM3389843 c.181G>A p.G61S Substitution - Missense 20:56437308-56437308 + OSCC-GB_01050111 COSM3911637 c.1232C>T p.S411F Substitution - Missense 20:56452408-56452408 + ccRCC-97 COSM1665390 c.510delT p.S171fs*16 Deletion - Frameshift 20:56445950-56445950 + LUAD_E01147 COSM390596 c.366G>C p.G122G Substitution - coding silent 20:56437493-56437493 + ESO-859 COSM1238433 c.1691T>C p.M564T Substitution - Missense 20:56452867-56452867 + 019-0047-01TD COSM5416852 c.2336G>A p.R779Q Substitution - Missense 20:56458722-56458722 + cSCCP1 COSM135889 c.1682G>A p.R561K Substitution - Missense 20:56452858-56452858 + TCGA-CM-5861-01 COSM1412636 c.2142_2143insA p.L716fs*37 Insertion - Frameshift 20:56458528-56458529 + Pat_40_B COSM5858148 c.644G>T p.G215V Substitution - Missense 20:56451820-56451820 + SNU-C2B COSM3548053 c.2285C>T p.A762V Substitution - Missense 20:56458671-56458671 + ESO-083 COSM1247379 c.500C>T p.P167L Substitution - Missense 20:56445940-56445940 + TCGA-AC-A23H-01 COSM3841356 c.1648G>T p.D550Y Substitution - Missense 20:56452824-56452824 + CSCC-31-T COSM4473275 c.183C>T p.G61G Substitution - coding silent 20:56437310-56437310 + TCGA-BR-8059-01 COSM4099651 c.1153T>C p.S385P Substitution - Missense 20:56452329-56452329 + CN-AML-CR-59-Dx COSM3758649 c.2271G>A p.T757T Substitution - coding silent 20:56458657-56458657 + LUAD-S01357 COSM387258 c.938G>T p.G313V Substitution - Missense 20:56452114-56452114 + T3668 COSM2764018 c.2262C>T p.A754A Substitution - coding silent 20:56458648-56458648 + TCGA-EK-A2PG-01 COSM4819703 c.82G>A p.D28N Substitution - Missense 20:56437209-56437209 + TCGA-AP-A0LM-01 COSM1028285 c.1829A>C p.K610T Substitution - Missense 20:56453005-56453005 + D28 COSM5544628 c.561G>A p.K187K Substitution - coding silent 20:56446001-56446001 + C086 COSM5528158 c.269C>T p.A90V Substitution - Missense 20:56437396-56437396 + 6T COSM3734615 c.1214G>A p.S405N Substitution - Missense 20:56452390-56452390 + AOCS-171-3-8 COSM4137059 c.2209A>C p.S737R Substitution - Missense 20:56458595-56458595 + PTC-50C COSM4134676 c.2205T>C p.R735R Substitution - coding silent 20:56458591-56458591 + ATL045 COSM5707491 c.482C>A p.P161H Substitution - Missense 20:56445922-56445922 + BD217T COSM5495490 c.1345C>G p.H449D Substitution - Missense 20:56452521-56452521 + TCGA-EE-A2MT-06 COSM3548037 c.964C>T p.P322S Substitution - Missense 20:56452140-56452140 + TCGA-D9-A4Z3-01 COSM3548029 c.106G>A p.D36N Substitution - Missense 20:56437233-56437233 + 07-P8041 COSM4581903 c.1054A>G p.I352V Substitution - Missense 20:56452230-56452230 + ESO-0023 COSM1247378 c.1236G>A p.S412S Substitution - coding silent 20:56452412-56452412 + TCGA-AM-5820-01 COSM3758647 c.2034C>G p.L678L Substitution - coding silent 20:56458420-56458420 + TCGA-AG-A01W-01 COSM290152 c.285G>A p.E95E Substitution - coding silent 20:56437412-56437412 + 12M COSM5577312 c.283G>A p.E95K Substitution - Missense 20:56437410-56437410 + TCGA-FW-A3R5-06 COSM3911637 c.1232C>T p.S411F Substitution - Missense 20:56452408-56452408 + PR-09-2517 COSM243495 c.1227C>A p.I409I Substitution - coding silent 20:56452403-56452403 + 2492711 COSM1412626 c.1128C>T p.S376S Substitution - coding silent 20:56452304-56452304 + SNU-175 COSM2764015 c.2189G>A p.R730H Substitution - Missense 20:56458575-56458575 + HT115 COSM2763963 c.501G>A p.P167P Substitution - coding silent 20:56445941-56445941 + 400 COSM4429428 c.215C>T p.T72M Substitution - Missense 20:56437342-56437342 + TCGA-61-1728-01 COSM117883 c.1492C>T p.R498* Substitution - Nonsense 20:56452668-56452668 + TCGA-37-5819-01 COSM724101 c.837C>A p.F279L Substitution - Missense 20:56452013-56452013 + Gp2D COSM2764019 c.2273A>G p.Y758C Substitution - Missense 20:56458659-56458659 + 2492713 COSM1412626 c.1128C>T p.S376S Substitution - coding silent 20:56452304-56452304 + TCGA-D3-A51G-06 COSM3548039 c.1016G>A p.R339Q Substitution - Missense 20:56452192-56452192 + Pat_06_B COSM5858153 c.2329C>G p.H777D Substitution - Missense 20:56458715-56458715 + YUHOIN COSM1713706 c.863G>A p.R288K Substitution - Missense 20:56452039-56452039 + TCGA-FW-A3R5-06 COSM3911636 c.1155C>T p.S385S Substitution - coding silent 20:56452331-56452331 + TCGA-IH-A3EA-01 COSM3548050 c.2127C>T p.V709V Substitution - coding silent 20:56458513-56458513 + TCGA-66-2767-01 COSM724100 c.852T>C p.S284S Substitution - coding silent 20:56452028-56452028 + RMS105_ COSM4986085 c.826A>G p.S276G Substitution - Missense 20:56452002-56452002 + TCGA-BR-8680-01 COSM4099653 c.1595A>G p.E532G Substitution - Missense 20:56452771-56452771 + PCSI_0325_Pa_P_526 COSM3734615 c.1214G>A p.S405N Substitution - Missense 20:56452390-56452390 + TCGA-GN-A266-06 COSM3548031 c.210C>T p.I70I Substitution - coding silent 20:56437337-56437337 + TCGA-BF-A1PX-01 COSM3939415 c.1878C>T p.T626T Substitution - coding silent 20:56453054-56453054 + TCGA-HU-A4GQ-01 COSM4099658 c.2204G>A p.R735H Substitution - Missense 20:56458590-56458590 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.473133;Hs.473144 20q13.31

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.E95G c.284A>G 20 55012467 UCEC - A IntronicInsertion . c.1954-97dupA 20 55033292 ESCA A T Missense p.E492V c.1475A>T 20 55027707 STAD A T Missense p.S254C c.760A>T 20 55026992 OV A T Synonymous p.V316V c.948A>T 20 55027180 LUSC C A Missense p.A18E c.53C>A 20 55012236 LUAD C A Missense p.F279L c.837C>A 20 55027069 LUSC C A Missense p.H449Q c.1347C>A 20 55027579 LUAD C A Missense p.L586I c.1756C>A 20 55027988 LUAD C A Missense p.P322H c.965C>A 20 55027197 STAD C A Missense p.P602T c.1804C>A 20 55028036 SCLC C A Missense p.Q124K c.370C>A 20 55012553 LUAD C A Missense p.S524Y c.1571C>A 20 55027803 LUSC C A Missense p.T345N c.1034C>A 20 55027266 LUAD CC AA Missense p.P273N c.817_818delinsAA 20 55027049 LUAD C G Missense p.D175E c.525C>G 20 55021021 NB C G Synonymous p.L272L c.816C>G 20 55027048 BLCA C T Missense p.A120V c.359C>T 20 55012542 STAD C T Missense p.A362V c.1085C>T 20 55027317 CM C T Missense p.A762V c.2285C>T 20 55033727 CM C T Missense p.P134S c.400C>T 20 55012583 UCEC C T Missense p.P137S c.409C>T 20 55012592 CM C T Missense p.P167L c.500C>T 20 55020996 ESCA C T Missense p.P219S c.655C>T 20 55026887 CM C T Missense p.P269S c.805C>T 20 55027037 CM C T Missense p.P310S c.928C>T 20 55027160 CM C T Missense p.P322S c.964C>T 20 55027196 CM C T Missense p.P393S c.1177C>T 20 55027409 CM C T Missense p.P570L c.1709C>T 20 55027941 UCEC C T Missense p.P615L c.1844C>T 20 55028076 CM C T Missense p.R105C c.313C>T 20 55012496 UCEC C T Missense p.R163W c.487C>T 20 55020983 CM C T Missense p.R517W c.1549C>T 20 55027781 CM C T Missense p.R517W c.1549C>T 20 55027781 LUSC C T Missense p.R517W c.1549C>T 20 55027781 NSCLC C T Missense p.R540C c.1618C>T 20 55027850 UCEC C T Missense p.R590W c.1768C>T 20 55028000 UCEC C T Missense p.S373L c.1118C>T 20 55027350 CM C T Missense p.T356M c.1067C>T 20 55027299 STAD C T Nonsense p.Q705* c.2113C>T 20 55033555 BLCA C T Nonsense p.R498* c.1492C>T 20 55027724 OV C T Synonymous p.F133F c.399C>T 20 55012582 CM C T Synonymous p.F83F c.249C>T 20 55012432 CLL C T Synonymous p.S232S c.696C>T 20 55026928 CM C T Synonymous p.T626T c.1878C>T 20 55028110 CM C T Synonymous p.V500V c.1500C>T 20 55027732 CM C T Synonymous p.V580V c.1740C>T 20 55027972 LUSC C T Synonymous p.V709V c.2127C>T 20 55033569 CM G A Missense p.A700T c.2098G>A 20 55033540 COREAD G A Missense p.E365K c.1093G>A 20 55027325 CM G A Missense p.E772K c.2314G>A 20 55033756 LUSC G A Missense p.E88K c.262G>A 20 55012445 CM G A Missense p.G182D c.545G>A 20 55021041 ESCA G A Missense p.G584R c.1750G>A 20 55027982 CM G A Missense p.R163Q c.488G>A 20 55020984 OV G A Missense p.R339Q c.1016G>A 20 55027248 CM G A Missense p.R668K c.2003G>A 20 55033445 CM G A Missense p.S118N c.353G>A 20 55012536 CM G A Missense p.S737N c.2210G>A 20 55033652 STAD G A Missense p.V184M c.550G>A 20 55021046 BRCA G A Missense p.V439M c.1315G>A 20 55027547 LUSC G A Synonymous p.A769A c.2307G>A 20 55033749 CM G A Synonymous p.E95E c.285G>A 20 55012468 COREAD G A Synonymous p.G681G c.2043G>A 20 55033485 OV G A Synonymous p.K187K c.561G>A 20 55021057 GBM G A Synonymous p.K191K c.573G>A 20 55025666 ESCA G A Synonymous p.K370K c.1110G>A 20 55027342 CM G A Synonymous p.L435L c.1305G>A 20 55027537 CM G A Synonymous p.R668R c.2004G>A 20 55033446 CM G A Synonymous p.S412S c.1236G>A 20 55027468 ESCA G A Synonymous p.T72T c.216G>A 20 55012399 CM G A Synonymous p.V223V c.669G>A 20 55026901 LUSC G A Synonymous p.V548V c.1644G>A 20 55027876 LUSC G C Missense p.G783A c.2348G>C 20 55033790 LUSC G - Frameshift p.E701Rfs*47 c.2101delG 20 55033542 LUAD GG AA Missense p.E770K c.2307_2308delinsAA 20 55033749 CM G T Missense p.A271S c.811G>T 20 55027043 LUSC G T Missense p.A497S c.1489G>T 20 55027721 LUSC G T Missense p.D746Y c.2236G>T 20 55033678 CM G T Missense p.G86V c.257G>T 20 55012440 COREAD G T Missense p.Q216H c.648G>T 20 55026880 HNSC G T Missense p.R160I c.479G>T 20 55020975 LUAD G T Missense p.R517L c.1550G>T 20 55027782 LUSC G T Missense p.R517L c.1550G>T 20 55027782 NSCLC G T Missense p.W119L c.356G>T 20 55012539 CM G T Synonymous p.A763A c.2289G>T 20 55033731 LUSC G T Synonymous p.L30L c.90G>T 20 55012273 LUAD T A Missense p.C144S c.430T>A 20 55012613 NB T A Missense p.I687N c.2060T>A 20 55033502 GBM T A Missense p.N652K c.1956T>A 20 55033398 CM T A Missense p.V176E c.527T>A 20 55021023 CLL T A Synonymous p.S27S c.81T>A 20 55012264 LUAD T C Missense p.F335S c.1004T>C 20 55027236 CM T C Missense p.L547P c.1640T>C 20 55027872 CM T C Missense p.L547P c.1640T>C 20 55027872 GBM T C Missense p.M564T c.1691T>C 20 55027923 ESCA T C Missense p.M7T c.20T>C 20 54987534 BRCA T C Synonymous p.G50G c.150T>C 20 55012333 CM T C Synonymous p.S284S c.852T>C 20 55027084 LUSC TG CT Missense p.L38P c.113_114delinsCT 20 55012296 LUAD