Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 187692864 187692864 + Missense_Mutation SNP C C G TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 g.chr2:187692864C>G c.1749G>C c.(1747-1749)tgG>tgC p.W583C BLCA 2 187692909 187692909 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr2:187692909C>G c.1704G>C c.(1702-1704)aaG>aaC p.K568N BLCA 2 187693289 187693289 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:187693289G>A c.1324C>T c.(1324-1326)Cct>Tct p.P442S BLCA 2 187694559 187694559 + Silent SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr2:187694559C>T c.990G>A c.(988-990)ctG>ctA p.L330L BLCA 2 187694567 187694567 + Missense_Mutation SNP G G T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 g.chr2:187694567G>T c.982C>A c.(982-984)Ctc>Atc p.L328I BLCA 2 187698750 187698750 + Nonsense_Mutation SNP C C A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr2:187698750C>A c.751G>T c.(751-753)Gaa>Taa p.E251* BLCA 2 187712478 187712478 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 g.chr2:187712478C>T c.210G>A c.(208-210)ccG>ccA p.P70P BLCA 2 187713754 187713754 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr2:187713754C>G c.104G>C c.(103-105)cGa>cCa p.R35P BLCA 2 187713777 187713777 + Silent SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr2:187713777C>T c.81G>A c.(79-81)ctG>ctA p.L27L BLCA 2 187713800 187713800 + Missense_Mutation SNP T T C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:187713800T>C c.58A>G c.(58-60)Agc>Ggc p.S20G BRCA 2 187693353 187693353 + Missense_Mutation SNP T T A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 g.chr2:187693353T>A c.1260A>T c.(1258-1260)aaA>aaT p.K420N BRCA 2 187693402 187693402 + Missense_Mutation SNP G G A TCGA-A7-A0CJ-01A-21W-A019-09 TCGA-A7-A0CJ-10A-01W-A021-09 g.chr2:187693402G>A c.1211C>T c.(1210-1212)gCa>gTa p.A404V BRCA 2 187702201 187702201 + Missense_Mutation SNP A A G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 g.chr2:187702201A>G c.575T>C c.(574-576)tTg>tCg p.L192S BRCA 2 187703766 187703766 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr2:187703766C>T c.414G>A c.(412-414)caG>caA p.Q138Q BRCA 2 187703893 187703893 + Missense_Mutation SNP G G T TCGA-AC-A3OD-01A-11D-A21Q-09 TCGA-AC-A3OD-10A-01D-A21Q-09 g.chr2:187703893G>T c.287C>A c.(286-288)gCt>gAt p.A96D CESC 2 187693277 187693277 + Missense_Mutation SNP G G C TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 g.chr2:187693277G>C c.1336C>G c.(1336-1338)Cag>Gag p.Q446E CESC 2 187693353 187693353 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr2:187693353T>G c.1260A>C c.(1258-1260)aaA>aaC p.K420N CESC 2 187693420 187693420 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr2:187693420G>A c.1193C>T c.(1192-1194)tCa>tTa p.S398L CESC 2 187693431 187693431 + Silent SNP A A C TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr2:187693431A>C c.1182T>G c.(1180-1182)acT>acG p.T394T COAD 2 187692975 187692975 + Silent SNP T T C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr2:187692975T>C c.1638A>G c.(1636-1638)aaA>aaG p.K546K COAD 2 187692975 187692975 + Silent SNP T T C TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr2:187692975T>C c.1638A>G c.(1636-1638)aaA>aaG p.K546K COAD 2 187692975 187692975 + Silent SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr2:187692975T>C c.1638A>G c.(1636-1638)aaA>aaG p.K546K COAD 2 187692975 187692975 + Silent SNP T T C TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr2:187692975T>C c.1638A>G c.(1636-1638)aaA>aaG p.K546K COAD 2 187693167 187693167 + Frame_Shift_Del DEL T T - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:187693167delT c.1446delA c.(1444-1446)aaafs p.K482fs COAD 2 187693184 187693184 + Missense_Mutation SNP T T A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr2:187693184T>A c.1429A>T c.(1429-1431)Aat>Tat p.N477Y COAD 2 187693188 187693188 + Missense_Mutation SNP T T A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr2:187693188T>A c.1425A>T c.(1423-1425)ttA>ttT p.L475F COAD 2 187693205 187693207 + Missense_Mutation TNP GAT GAT ATC TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr2:187693205_187693207GAT>ATC c.1406_1408ATC>GAT c.(1405-1410)aATCta>aGATta p.N469R COAD 2 187694551 187694551 + Missense_Mutation SNP T T G TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:187694551T>G c.998A>C c.(997-999)aAg>aCg p.K333T COAD 2 187697903 187697903 + Silent SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:187697903G>A c.885C>T c.(883-885)taC>taT p.Y295Y COAD 2 187698691 187698691 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:187698691G>A c.810C>T c.(808-810)caC>caT p.H270H COAD 2 187698730 187698730 + Silent SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:187698730T>C c.771A>G c.(769-771)ttA>ttG p.L257L COAD 2 187702258 187702258 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:187702258T>C c.518A>G c.(517-519)cAt>cGt p.H173R COAD 2 187703740 187703740 + Missense_Mutation SNP C C T TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr2:187703740C>T c.440G>A c.(439-441)tGc>tAc p.C147Y COAD 2 187703804 187703804 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:187703804C>T c.376G>A c.(376-378)Gaa>Aaa p.E126K COAD 2 187713711 187713711 + Silent SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr2:187713711C>T c.147G>A c.(145-147)ccG>ccA p.P49P COAD 2 187713715 187713715 + Missense_Mutation SNP T T C TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr2:187713715T>C c.143A>G c.(142-144)gAg>gGg p.E48G COAD 2 187713715 187713715 + Missense_Mutation SNP T T C TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr2:187713715T>C c.143A>G c.(142-144)gAg>gGg p.E48G COAD 2 187713819 187713819 + Missense_Mutation SNP T T G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:187713819T>G c.39A>C c.(37-39)agA>agC p.R13S COAD 2 187713825 187713825 + Silent SNP C C T TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr2:187713825C>T c.33G>A c.(31-33)agG>agA p.R11R COADREAD 2 187692975 187692975 + Silent SNP T T C TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr2:187692975T>C c.1638A>G c.(1636-1638)aaA>aaG p.K546K COADREAD 2 187692975 187692975 + Silent SNP T T C TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr2:187692975T>C c.1638A>G c.(1636-1638)aaA>aaG p.K546K COADREAD 2 187692975 187692975 + Silent SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr2:187692975T>C c.1638A>G c.(1636-1638)aaA>aaG p.K546K COADREAD 2 187692975 187692975 + Silent SNP T T C TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr2:187692975T>C c.1638A>G c.(1636-1638)aaA>aaG p.K546K COADREAD 2 187693167 187693167 + Frame_Shift_Del DEL T T - TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:187693167delT c.1446delA c.(1444-1446)aaafs p.K482fs COADREAD 2 187693184 187693184 + Missense_Mutation SNP T T A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr2:187693184T>A c.1429A>T c.(1429-1431)Aat>Tat p.N477Y COADREAD 2 187693188 187693188 + Missense_Mutation SNP T T A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr2:187693188T>A c.1425A>T c.(1423-1425)ttA>ttT p.L475F COADREAD 2 187693200 187693200 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:187693200G>T c.1413C>A c.(1411-1413)tgC>tgA p.C471* COADREAD 2 187693205 187693207 + Missense_Mutation TNP GAT GAT ATC TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr2:187693205_187693207GAT>ATC c.1406_1408ATC>GAT c.(1405-1410)aATCta>aGATta p.N469R COADREAD 2 187693219 187693219 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:187693219G>T c.1394C>A c.(1393-1395)aCa>aAa p.T465K COADREAD 2 187694551 187694551 + Missense_Mutation SNP T T G TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:187694551T>G c.998A>C c.(997-999)aAg>aCg p.K333T COADREAD 2 187697903 187697903 + Silent SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:187697903G>A c.885C>T c.(883-885)taC>taT p.Y295Y COADREAD 2 187698691 187698691 + Silent SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr2:187698691G>A c.810C>T c.(808-810)caC>caT p.H270H COADREAD 2 187698730 187698730 + Silent SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:187698730T>C c.771A>G c.(769-771)ttA>ttG p.L257L COADREAD 2 187702088 187702088 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:187702088G>T c.688C>A c.(688-690)Ctt>Att p.L230I COADREAD 2 187702258 187702258 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:187702258T>C c.518A>G c.(517-519)cAt>cGt p.H173R COADREAD 2 187703740 187703740 + Missense_Mutation SNP C C T TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr2:187703740C>T c.440G>A c.(439-441)tGc>tAc p.C147Y COADREAD 2 187703804 187703804 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:187703804C>T c.376G>A c.(376-378)Gaa>Aaa p.E126K COADREAD 2 187713711 187713711 + Silent SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr2:187713711C>T c.147G>A c.(145-147)ccG>ccA p.P49P COADREAD 2 187713715 187713715 + Missense_Mutation SNP T T C TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr2:187713715T>C c.143A>G c.(142-144)gAg>gGg p.E48G COADREAD 2 187713715 187713715 + Missense_Mutation SNP T T C TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr2:187713715T>C c.143A>G c.(142-144)gAg>gGg p.E48G COADREAD 2 187713819 187713819 + Missense_Mutation SNP T T G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr2:187713819T>G c.39A>C c.(37-39)agA>agC p.R13S COADREAD 2 187713825 187713825 + Silent SNP C C T TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr2:187713825C>T c.33G>A c.(31-33)agG>agA p.R11R ESCA 2 187693010 187693010 + Nonsense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr2:187693010C>A c.1603G>T c.(1603-1605)Gga>Tga p.G535* ESCA 2 187694604 187694604 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr2:187694604T>G c.945A>C c.(943-945)caA>caC p.Q315H GBM 2 187692829 187692829 + Missense_Mutation SNP C C G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 g.chr2:187692829C>G c.1784G>C c.(1783-1785)aGt>aCt p.S595T GBM 2 187693302 187693302 + Silent SNP T T C TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 g.chr2:187693302T>C c.1311A>G c.(1309-1311)agA>agG p.R437R GBM 2 187713851 187713851 + Missense_Mutation SNP G G T TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr2:187713851G>T c.7C>A c.(7-9)Cgc>Agc p.R3S GBMLGG 2 187692829 187692829 + Missense_Mutation SNP C C G TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 g.chr2:187692829C>G c.1784G>C c.(1783-1785)aGt>aCt p.S595T GBMLGG 2 187693297 187693297 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:187693297C>T c.1316G>A c.(1315-1317)gGa>gAa p.G439E GBMLGG 2 187693302 187693302 + Silent SNP T T C TCGA-06-0132-01A-02D-1491-08 TCGA-06-0132-10A-01D-1491-08 g.chr2:187693302T>C c.1311A>G c.(1309-1311)agA>agG p.R437R GBMLGG 2 187693346 187693346 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:187693346C>A c.1267G>T c.(1267-1269)Gat>Tat p.D423Y GBMLGG 2 187693519 187693519 + Splice_Site SNP T T A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 g.chr2:187693519T>A c.e9-2 GBMLGG 2 187698677 187698677 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr2:187698677C>T c.824G>A c.(823-825)cGt>cAt p.R275H GBMLGG 2 187698684 187698684 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:187698684T>C c.817A>G c.(817-819)Aca>Gca p.T273A GBMLGG 2 187702143 187702143 + Silent SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 g.chr2:187702143G>A c.633C>T c.(631-633)ttC>ttT p.F211F GBMLGG 2 187702251 187702251 + Frame_Shift_Del DEL T T - TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:187702251delT c.525delA c.(523-525)aaafs p.K175fs GBMLGG 2 187712478 187712478 + Silent SNP C C T TCGA-DH-5144-01A-01D-1468-08 TCGA-DH-5144-10A-01D-1468-08 g.chr2:187712478C>T c.210G>A c.(208-210)ccG>ccA p.P70P GBMLGG 2 187713851 187713851 + Missense_Mutation SNP G G T TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr2:187713851G>T c.7C>A c.(7-9)Cgc>Agc p.R3S HNSC 2 187694508 187694508 + Silent SNP A A G TCGA-UF-A719-01A-12D-A34J-08 TCGA-UF-A719-10A-01D-A34M-08 g.chr2:187694508A>G c.1041T>C c.(1039-1041)tgT>tgC p.C347C HNSC 2 187702117 187702117 + Missense_Mutation SNP G G T TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chr2:187702117G>T c.659C>A c.(658-660)gCa>gAa p.A220E HNSC 2 187702178 187702178 + Missense_Mutation SNP C C G TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr2:187702178C>G c.598G>C c.(598-600)Gag>Cag p.E200Q HNSC 2 187703739 187703739 + Nonsense_Mutation SNP G G T TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr2:187703739G>T c.441C>A c.(439-441)tgC>tgA p.C147* HNSC 2 187703778 187703778 + Silent SNP C C T TCGA-QK-A8Z9-01B-11D-A391-08 TCGA-QK-A8Z9-10A-01D-A394-08 g.chr2:187703778C>T c.402G>A c.(400-402)ggG>ggA p.G134G HNSC 2 187703819 187703819 + Missense_Mutation SNP G G T TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chr2:187703819G>T c.361C>A c.(361-363)Cca>Aca p.P121T HNSC 2 187703843 187703844 + Frame_Shift_Ins INS - - C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr2:187703843_187703844insC c.336_337insG c.(334-339)gggatafs p.I113fs HNSC 2 187712479 187712479 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 g.chr2:187712479G>A c.209C>T c.(208-210)cCg>cTg p.P70L KIPAN 2 187692936 187692937 + In_Frame_Ins INS - - GGG TCGA-CJ-5684-01A-11D-1534-10 TCGA-CJ-5684-11A-01D-1535-10 g.chr2:187692936_187692937insGGG c.1676_1677insCCC c.(1675-1677)cct>ccCCCt p.559_559P>PP KIPAN 2 187693068 187693068 + Silent SNP A A C TCGA-CW-5591-01A-01D-1534-10 TCGA-CW-5591-11A-01D-1535-10 g.chr2:187693068A>C c.1545T>G c.(1543-1545)ccT>ccG p.P515P KIPAN 2 187693177 187693177 + Missense_Mutation SNP T T A TCGA-BQ-5887-01A-11D-1961-08 TCGA-BQ-5887-11A-01D-1961-08 g.chr2:187693177T>A c.1436A>T c.(1435-1437)aAt>aTt p.N479I KIPAN 2 187703706 187703706 + Frame_Shift_Del DEL C C - TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr2:187703706delC c.474delG c.(472-474)aagfs p.K158fs KIRC 2 187692936 187692937 + In_Frame_Ins INS - - GGG TCGA-CJ-5684-01A-11D-1534-10 TCGA-CJ-5684-11A-01D-1535-10 g.chr2:187692936_187692937insGGG c.1676_1677insCCC c.(1675-1677)cct>ccCCCt p.559_559P>PP KIRC 2 187693068 187693068 + Silent SNP A A C TCGA-CW-5591-01A-01D-1534-10 TCGA-CW-5591-11A-01D-1535-10 g.chr2:187693068A>C c.1545T>G c.(1543-1545)ccT>ccG p.P515P KIRP 2 187693177 187693177 + Missense_Mutation SNP T T A TCGA-BQ-5887-01A-11D-1961-08 TCGA-BQ-5887-11A-01D-1961-08 g.chr2:187693177T>A c.1436A>T c.(1435-1437)aAt>aTt p.N479I KIRP 2 187703706 187703706 + Frame_Shift_Del DEL C C - TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr2:187703706delC c.474delG c.(472-474)aagfs p.K158fs LGG 2 187693297 187693297 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:187693297C>T c.1316G>A c.(1315-1317)gGa>gAa p.G439E LGG 2 187693346 187693346 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:187693346C>A c.1267G>T c.(1267-1269)Gat>Tat p.D423Y LGG 2 187693519 187693519 + Splice_Site SNP T T A TCGA-HT-7860-01A-11D-2395-08 TCGA-HT-7860-10A-01D-2396-08 g.chr2:187693519T>A c.e9-2 LGG 2 187698677 187698677 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr2:187698677C>T c.824G>A c.(823-825)cGt>cAt p.R275H LGG 2 187698684 187698684 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:187698684T>C c.817A>G c.(817-819)Aca>Gca p.T273A LGG 2 187702143 187702143 + Silent SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 g.chr2:187702143G>A c.633C>T c.(631-633)ttC>ttT p.F211F LGG 2 187702251 187702251 + Frame_Shift_Del DEL T T - TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:187702251delT c.525delA c.(523-525)aaafs p.K175fs LGG 2 187712478 187712478 + Silent SNP C C T TCGA-DH-5144-01A-01D-1468-08 TCGA-DH-5144-10A-01D-1468-08 g.chr2:187712478C>T c.210G>A c.(208-210)ccG>ccA p.P70P LIHC 2 187693106 187693106 + Missense_Mutation SNP C C A TCGA-DD-A1ED-01A-11D-A152-10 TCGA-DD-A1ED-10A-01D-A152-10 g.chr2:187693106C>A c.1507G>T c.(1507-1509)Gtg>Ttg p.V503L LIHC 2 187693382 187693382 + Missense_Mutation SNP T T C TCGA-BW-A5NQ-01A-11D-A27I-10 TCGA-BW-A5NQ-10A-01D-A27I-10 g.chr2:187693382T>C c.1231A>G c.(1231-1233)Aga>Gga p.R411G LIHC 2 187697904 187697904 + Missense_Mutation SNP T T A TCGA-G3-A7M5-01A-11D-A33Q-10 TCGA-G3-A7M5-10A-01D-A33Q-10 g.chr2:187697904T>A c.884A>T c.(883-885)tAc>tTc p.Y295F LIHC 2 187698746 187698746 + Missense_Mutation SNP C C T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr2:187698746C>T c.755G>A c.(754-756)tGc>tAc p.C252Y LIHC 2 187713741 187713741 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr2:187713741delG c.117delC c.(115-117)cccfs p.P39fs LIHC 2 187713768 187713768 + Missense_Mutation SNP G G C TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr2:187713768G>C c.90C>G c.(88-90)agC>agG p.S30R LUAD 2 187692726 187692726 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr2:187692726T>C c.1887A>G c.(1885-1887)gaA>gaG p.E629E LUAD 2 187692746 187692746 + Frame_Shift_Del DEL C C - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr2:187692746delC c.1867delG c.(1867-1869)gagfs p.E623fs LUAD 2 187692819 187692819 + Missense_Mutation SNP C C A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr2:187692819C>A c.1794G>T c.(1792-1794)atG>atT p.M598I LUAD 2 187692860 187692860 + Missense_Mutation SNP T T C TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr2:187692860T>C c.1753A>G c.(1753-1755)Aca>Gca p.T585A LUAD 2 187692887 187692887 + Missense_Mutation SNP C C A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr2:187692887C>A c.1726G>T c.(1726-1728)Gat>Tat p.D576Y LUAD 2 187692918 187692918 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr2:187692918C>A c.1695G>T c.(1693-1695)gaG>gaT p.E565D LUAD 2 187692933 187692933 + Frame_Shift_Del DEL G G - TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr2:187692933delG c.1680delC c.(1678-1680)gccfs p.A560fs LUAD 2 187693111 187693111 + Missense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr2:187693111G>T c.1502C>A c.(1501-1503)cCc>cAc p.P501H LUAD 2 187693380 187693380 + Missense_Mutation SNP T T G TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr2:187693380T>G c.1233A>C c.(1231-1233)agA>agC p.R411S LUAD 2 187693457 187693457 + Missense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr2:187693457C>T c.1156G>A c.(1156-1158)Gga>Aga p.G386R LUAD 2 187694457 187694457 + Missense_Mutation SNP G G T TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr2:187694457G>T c.1092C>A c.(1090-1092)caC>caA p.H364Q LUAD 2 187694578 187694578 + Missense_Mutation SNP C C A TCGA-49-4514-01A-21D-1855-08 TCGA-49-4514-11A-01D-1855-08 g.chr2:187694578C>A c.971G>T c.(970-972)aGa>aTa p.R324I LUAD 2 187694603 187694603 + Missense_Mutation SNP C C A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr2:187694603C>A c.946G>T c.(946-948)Gtt>Ttt p.V316F LUAD 2 187694605 187694605 + Missense_Mutation SNP T T A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr2:187694605T>A c.944A>T c.(943-945)cAa>cTa p.Q315L LUAD 2 187694608 187694608 + Splice_Site SNP C C A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr2:187694608C>A c.e8-1 LUAD 2 187698688 187698688 + Silent SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr2:187698688C>T c.813G>A c.(811-813)acG>acA p.T271T LUAD 2 187698691 187698691 + Silent SNP G G A TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr2:187698691G>A c.810C>T c.(808-810)caC>caT p.H270H LUAD 2 187698693 187698693 + Frame_Shift_Del DEL G G - TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr2:187698693delG c.808delC c.(808-810)cacfs p.H270fs LUAD 2 187698752 187698752 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr2:187698752G>C c.749C>G c.(748-750)aCc>aGc p.T250S LUAD 2 187702037 187702037 + Missense_Mutation SNP A A G TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 g.chr2:187702037A>G c.739T>C c.(739-741)Tat>Cat p.Y247H LUAD 2 187702085 187702085 + Missense_Mutation SNP C C A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr2:187702085C>A c.691G>T c.(691-693)Ggg>Tgg p.G231W LUAD 2 187702135 187702135 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:187702135G>T c.641C>A c.(640-642)tCt>tAt p.S214Y LUAD 2 187702207 187702207 + Missense_Mutation SNP G G T TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr2:187702207G>T c.569C>A c.(568-570)tCc>tAc p.S190Y LUAD 2 187702221 187702221 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr2:187702221A>T c.555T>A c.(553-555)agT>agA p.S185R LUAD 2 187702270 187702270 + Missense_Mutation SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr2:187702270C>A c.506G>T c.(505-507)gGc>gTc p.G169V LUAD 2 187703804 187703804 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr2:187703804C>T c.376G>A c.(376-378)Gaa>Aaa p.E126K LUAD 2 187703805 187703805 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr2:187703805G>T c.375C>A c.(373-375)gaC>gaA p.D125E LUAD 2 187703818 187703818 + Missense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr2:187703818G>T c.362C>A c.(361-363)cCa>cAa p.P121Q LUAD 2 187703837 187703837 + Nonsense_Mutation SNP G G A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr2:187703837G>A c.343C>T c.(343-345)Cga>Tga p.R115* LUAD 2 187703872 187703872 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr2:187703872T>C c.308A>G c.(307-309)gAa>gGa p.E103G LUAD 2 187709478 187709478 + Missense_Mutation SNP C C A TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr2:187709478C>A c.249G>T c.(247-249)ttG>ttT p.L83F LUAD 2 187709484 187709484 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr2:187709484C>A c.243G>T c.(241-243)tgG>tgT p.W81C LUAD 2 187712478 187712478 + Silent SNP C C T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr2:187712478C>T c.210G>A c.(208-210)ccG>ccA p.P70P LUAD 2 187712479 187712479 + Missense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr2:187712479G>T c.209C>A c.(208-210)cCg>cAg p.P70Q LUAD 2 187712504 187712504 + Missense_Mutation SNP G G T TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr2:187712504G>T c.184C>A c.(184-186)Cac>Aac p.H62N LUSC 2 187693061 187693061 + Missense_Mutation SNP C C T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr2:187693061C>T c.1552G>A c.(1552-1554)Gtt>Att p.V518I LUSC 2 187693346 187693346 + Missense_Mutation SNP C C A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 g.chr2:187693346C>A c.1267G>T c.(1267-1269)Gat>Tat p.D423Y LUSC 2 187694599 187694599 + Missense_Mutation SNP T T C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr2:187694599T>C c.950A>G c.(949-951)tAc>tGc p.Y317C LUSC 2 187702112 187702112 + Missense_Mutation SNP C C G TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr2:187702112C>G c.664G>C c.(664-666)Gaa>Caa p.E222Q LUSC 2 187709452 187709452 + Missense_Mutation SNP T T A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 g.chr2:187709452T>A c.275A>T c.(274-276)aAc>aTc p.N92I LUSC 2 187712502 187712502 + Missense_Mutation SNP G G C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr2:187712502G>C c.186C>G c.(184-186)caC>caG p.H62Q OV 2 187692976 187692976 + Missense_Mutation SNP T T C TCGA-04-1356-01A-01W-0492-08 TCGA-04-1356-11A-01W-0492-08 g.chr2:187692976T>C c.1637A>G c.(1636-1638)aAa>aGa p.K546R OV 2 187697873 187697873 + Missense_Mutation SNP C C G TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 g.chr2:187697873C>G c.915G>C c.(913-915)aaG>aaC p.K305N OV 2 187713716 187713716 + Nonsense_Mutation SNP C C A TCGA-13-1409-01A-01W-0492-08 TCGA-13-1409-10A-01W-0493-08 g.chr2:187713716C>A c.142G>T c.(142-144)Gag>Tag p.E48* PAAD 2 187694554 187694554 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:187694554G>A c.995C>T c.(994-996)aCt>aTt p.T332I PAAD 2 187702250 187702250 + Missense_Mutation SNP A A T TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 g.chr2:187702250A>T c.526T>A c.(526-528)Tgc>Agc p.C176S PRAD 2 187693166 187693166 + Missense_Mutation SNP A A T TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 g.chr2:187693166A>T c.1447T>A c.(1447-1449)Tta>Ata p.L483I READ 2 187693200 187693200 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:187693200G>T c.1413C>A c.(1411-1413)tgC>tgA p.C471* READ 2 187693219 187693219 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:187693219G>T c.1394C>A c.(1393-1395)aCa>aAa p.T465K READ 2 187702088 187702088 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:187702088G>T c.688C>A c.(688-690)Ctt>Att p.L230I SKCM 2 187692815 187692815 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:187692815C>T c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K SKCM 2 187692816 187692816 + Silent SNP C C T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr2:187692816C>T c.1797G>A c.(1795-1797)ggG>ggA p.G599G SKCM 2 187692922 187692922 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr2:187692922C>T c.1691G>A c.(1690-1692)aGa>aAa p.R564K SKCM 2 187692974 187692974 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr2:187692974C>T c.1639G>A c.(1639-1641)Ggc>Agc p.G547S SKCM 2 187693001 187693001 + Missense_Mutation SNP G G A TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr2:187693001G>A c.1612C>T c.(1612-1614)Cac>Tac p.H538Y SKCM 2 187693102 187693102 + Missense_Mutation SNP G G A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr2:187693102G>A c.1511C>T c.(1510-1512)tCa>tTa p.S504L SKCM 2 187693132 187693132 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:187693132G>A c.1481C>T c.(1480-1482)cCc>cTc p.P494L SKCM 2 187693133 187693133 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr2:187693133G>A c.1480C>T c.(1480-1482)Ccc>Tcc p.P494S SKCM 2 187693133 187693133 + Missense_Mutation SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr2:187693133G>A c.1480C>T c.(1480-1482)Ccc>Tcc p.P494S SKCM 2 187693180 187693180 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:187693180G>A c.1433C>T c.(1432-1434)tCa>tTa p.S478L SKCM 2 187693194 187693194 + Silent SNP G G A TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr2:187693194G>A c.1419C>T c.(1417-1419)atC>atT p.I473I SKCM 2 187693211 187693211 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr2:187693211C>T c.1402G>A c.(1402-1404)Gat>Aat p.D468N SKCM 2 187693226 187693226 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:187693226C>T c.1387G>A c.(1387-1389)Gaa>Aaa p.E463K SKCM 2 187693262 187693262 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:187693262C>T c.1351G>A c.(1351-1353)Gaa>Aaa p.E451K SKCM 2 187693354 187693354 + Missense_Mutation SNP T T A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr2:187693354T>A c.1259A>T c.(1258-1260)aAa>aTa p.K420I SKCM 2 187693387 187693387 + Missense_Mutation SNP G G A TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr2:187693387G>A c.1226C>T c.(1225-1227)tCa>tTa p.S409L SKCM 2 187693413 187693413 + Silent SNP C C T TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr2:187693413C>T c.1200G>A c.(1198-1200)gtG>gtA p.V400V SKCM 2 187693428 187693428 + Nonsense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:187693428C>T c.1185G>A c.(1183-1185)tgG>tgA p.W395* SKCM 2 187693433 187693433 + Missense_Mutation SNP T T G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr2:187693433T>G c.1180A>C c.(1180-1182)Act>Cct p.T394P SKCM 2 187694550 187694550 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr2:187694550C>T c.999G>A c.(997-999)aaG>aaA p.K333K SKCM 2 187694567 187694567 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:187694567G>A c.982C>T c.(982-984)Ctc>Ttc p.L328F SKCM 2 187698678 187698678 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr2:187698678G>A c.823C>T c.(823-825)Cgt>Tgt p.R275C SKCM 2 187698678 187698678 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr2:187698678G>A c.823C>T c.(823-825)Cgt>Tgt p.R275C SKCM 2 187698694 187698694 + Silent SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr2:187698694G>A c.807C>T c.(805-807)tcC>tcT p.S269S SKCM 2 187698702 187698702 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr2:187698702G>A c.799C>T c.(799-801)Cat>Tat p.H267Y SKCM 2 187702044 187702044 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr2:187702044C>T c.732G>A c.(730-732)ggG>ggA p.G244G SKCM 2 187702047 187702047 + Silent SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr2:187702047C>T c.729G>A c.(727-729)gaG>gaA p.E243E SKCM 2 187702055 187702055 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr2:187702055G>A c.721C>T c.(721-723)Cca>Tca p.P241S SKCM 2 187702078 187702078 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr2:187702078G>A c.698C>T c.(697-699)cCc>cTc p.P233L SKCM 2 187702271 187702271 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr2:187702271C>T c.505G>A c.(505-507)Ggc>Agc p.G169S SKCM 2 187703701 187703701 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr2:187703701G>A c.479C>T c.(478-480)cCt>cTt p.P160L SKCM 2 187703734 187703734 + Missense_Mutation SNP A A T TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr2:187703734A>T c.446T>A c.(445-447)aTt>aAt p.I149N SKCM 2 187703747 187703747 + Missense_Mutation SNP C C T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr2:187703747C>T c.433G>A c.(433-435)Gat>Aat p.D145N SKCM 2 187703747 187703747 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:187703747C>T c.433G>A c.(433-435)Gat>Aat p.D145N SKCM 2 187703815 187703815 + Missense_Mutation SNP C C T TCGA-ER-A2NH-06A-11D-A196-08 TCGA-ER-A2NH-10A-01D-A198-08 g.chr2:187703815C>T c.365G>A c.(364-366)gGa>gAa p.G122E SKCM 2 187703824 187703824 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:187703824G>A c.356C>T c.(355-357)cCc>cTc p.P119L SKCM 2 187703837 187703837 + Nonsense_Mutation SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr2:187703837G>A c.343C>T c.(343-345)Cga>Tga p.R115* SKCM 2 187712479 187712479 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr2:187712479G>A c.209C>T c.(208-210)cCg>cTg p.P70L SKCM 2 187712480 187712480 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 g.chr2:187712480G>A c.208C>T c.(208-210)Ccg>Tcg p.P70S SKCM 2 187712480 187712480 + Missense_Mutation SNP G G A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr2:187712480G>A c.208C>T c.(208-210)Ccg>Tcg p.P70S SKCM 2 187712504 187712504 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr2:187712504G>A c.184C>T c.(184-186)Cac>Tac p.H62Y SKCM 2 187712507 187712507 + Missense_Mutation SNP G G A TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr2:187712507G>A c.181C>T c.(181-183)Cct>Tct p.P61S SKCM 2 187712507 187712507 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr2:187712507G>A c.181C>T c.(181-183)Cct>Tct p.P61S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 2 187693044 187693044 single base substitution C T synonymous_variant V523V 1569G>A BLCA-US 2 187694567 187694567 single base substitution G T missense_variant L328I 982C>A BLCA-US 2 187713754 187713754 single base substitution C G exon_variant BLCA-US 2 187713754 187713754 single base substitution C G missense_variant R35P 104G>C BRCA-EU 2 187688797 187688797 single base substitution G C downstream_gene_variant BRCA-EU 2 187689821 187689821 single base substitution G A downstream_gene_variant BRCA-EU 2 187690038 187690038 single base substitution A G downstream_gene_variant BRCA-EU 2 187690207 187690207 single base substitution T A downstream_gene_variant BRCA-EU 2 187690467 187690467 single base substitution G A downstream_gene_variant BRCA-EU 2 187690940 187690940 single base substitution C T downstream_gene_variant BRCA-EU 2 187691116 187691116 single base substitution T A downstream_gene_variant BRCA-EU 2 187691791 187691791 single base substitution C T downstream_gene_variant BRCA-EU 2 187694276 187694276 single base substitution C T intron_variant BRCA-EU 2 187694823 187694835 deletion of <=200bp TGGCTGAGCATGA - intron_variant BRCA-EU 2 187695715 187695715 single base substitution C T intron_variant BRCA-EU 2 187696439 187696439 single base substitution C G intron_variant BRCA-EU 2 187697056 187697056 single base substitution C A intron_variant BRCA-EU 2 187697658 187697658 single base substitution C A intron_variant BRCA-EU 2 187698166 187698166 deletion of <=200bp A - intron_variant BRCA-EU 2 187701946 187701946 single base substitution T C intron_variant BRCA-EU 2 187701985 187701985 deletion of <=200bp A - intron_variant BRCA-EU 2 187702135 187702135 single base substitution G C missense_variant S214C 641C>G BRCA-EU 2 187703393 187703393 single base substitution C T intron_variant BRCA-EU 2 187705150 187705150 single base substitution C G downstream_gene_variant BRCA-EU 2 187705150 187705150 single base substitution C G intron_variant BRCA-EU 2 187709620 187709620 single base substitution C T intron_variant BRCA-EU 2 187709770 187709770 single base substitution G C intron_variant BRCA-EU 2 187709903 187709903 single base substitution A T intron_variant BRCA-EU 2 187710070 187710070 single base substitution T G intron_variant BRCA-EU 2 187710290 187710290 single base substitution T C intron_variant BRCA-EU 2 187711021 187711021 single base substitution C T intron_variant BRCA-EU 2 187711832 187711832 single base substitution T C intron_variant BRCA-EU 2 187711860 187711860 single base substitution T C intron_variant BRCA-EU 2 187712338 187712338 single base substitution A C intron_variant BRCA-EU 2 187712473 187712473 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 187712473 187712473 single base substitution C T missense_variant G72E 215G>A BRCA-EU 2 187714834 187714834 single base substitution C A upstream_gene_variant BRCA-EU 2 187714852 187714852 single base substitution C T upstream_gene_variant BRCA-EU 2 187716605 187716605 single base substitution T C upstream_gene_variant BRCA-EU 2 187717096 187717096 single base substitution T C upstream_gene_variant BRCA-FR 2 187690940 187690940 single base substitution C T downstream_gene_variant BRCA-FR 2 187696128 187696128 single base substitution T A intron_variant BRCA-FR 2 187708443 187708443 single base substitution T C downstream_gene_variant BRCA-FR 2 187708443 187708443 single base substitution T C intron_variant BRCA-FR 2 187711021 187711021 single base substitution C T intron_variant BRCA-KR 2 187702098 187702098 single base substitution C G synonymous_variant L226L 678G>C BRCA-UK 2 187698967 187698967 single base substitution C G intron_variant BRCA-US 2 187693353 187693353 single base substitution T A missense_variant K420N 1260A>T BRCA-US 2 187693402 187693402 single base substitution G A missense_variant A404V 1211C>T BRCA-US 2 187703766 187703766 single base substitution C T synonymous_variant Q138Q 414G>A BRCA-US 2 187703893 187703893 single base substitution G T missense_variant A96D 287C>A BRCA-US 2 187713647 187713647 single base substitution T G exon_variant BRCA-US 2 187713647 187713647 single base substitution T G intron_variant BTCA-JP 2 187692811 187692811 single base substitution A C missense_variant I601S 1802T>G BTCA-JP 2 187692908 187692908 single base substitution T G synonymous_variant R569R 1705A>C BTCA-JP 2 187692983 187692983 single base substitution T C missense_variant M544V 1630A>G BTCA-JP 2 187693157 187693157 single base substitution C T missense_variant D486N 1456G>A BTCA-JP 2 187693522 187693522 deletion of <=200bp A - intron_variant BTCA-JP 2 187694597 187694597 single base substitution T C missense_variant T318A 952A>G BTCA-JP 2 187713528 187713528 single base substitution T C 3_prime_UTR_variant BTCA-JP 2 187713528 187713528 single base substitution T C intron_variant BTCA-JP 2 187713540 187713540 single base substitution G C 3_prime_UTR_variant BTCA-JP 2 187713540 187713540 single base substitution G C intron_variant CESC-US 2 187693277 187693277 single base substitution G C missense_variant Q446E 1336C>G CESC-US 2 187693353 187693353 single base substitution T G missense_variant K420N 1260A>C CESC-US 2 187693420 187693420 single base substitution G A missense_variant S398L 1193C>T CESC-US 2 187693431 187693431 single base substitution A C synonymous_variant T394T 1182T>G CLLE-ES 2 187688347 187688347 single base substitution G T downstream_gene_variant CLLE-ES 2 187695978 187695978 single base substitution C T intron_variant CLLE-ES 2 187697007 187697007 single base substitution A G intron_variant CLLE-ES 2 187697543 187697543 single base substitution C T intron_variant CLLE-ES 2 187716627 187716627 single base substitution G A upstream_gene_variant COAD-US 2 187692908 187692908 single base substitution T G synonymous_variant R569R 1705A>C COAD-US 2 187692983 187692983 single base substitution T C missense_variant M544V 1630A>G COAD-US 2 187693003 187693003 single base substitution A T missense_variant F537Y 1610T>A COAD-US 2 187693044 187693044 single base substitution C T synonymous_variant V523V 1569G>A COAD-US 2 187693104 187693104 single base substitution C T synonymous_variant V503V 1509G>A COAD-US 2 187693155 187693155 single base substitution A T missense_variant D486E 1458T>A COAD-US 2 187693166 187693166 single base substitution A T missense_variant L483I 1447T>A COAD-US 2 187693184 187693184 single base substitution T A missense_variant N477Y 1429A>T COAD-US 2 187693188 187693188 single base substitution T A missense_variant L475F 1425A>T COAD-US 2 187694551 187694551 single base substitution T G missense_variant K333T 998A>C COAD-US 2 187697883 187697883 single base substitution A G missense_variant I302T 905T>C COAD-US 2 187697903 187697903 single base substitution G A synonymous_variant Y295Y 885C>T COAD-US 2 187698691 187698691 single base substitution G A synonymous_variant H270H 810C>T COAD-US 2 187703804 187703804 single base substitution C T missense_variant E126K 376G>A COAD-US 2 187713819 187713819 single base substitution T G exon_variant COAD-US 2 187713819 187713819 single base substitution T G missense_variant R13S 39A>C COCA-CN 2 187692959 187692959 single base substitution T C missense_variant N552D 1654A>G COCA-CN 2 187693104 187693104 single base substitution C T synonymous_variant V503V 1509G>A COCA-CN 2 187693118 187693118 single base substitution C A missense_variant D499Y 1495G>T COCA-CN 2 187693127 187693127 single base substitution A G missense_variant Y496H 1486T>C COCA-CN 2 187694439 187694439 single base substitution T C intron_variant COCA-CN 2 187694604 187694604 single base substitution T C synonymous_variant Q315Q 945A>G COCA-CN 2 187702019 187702019 single base substitution C T intron_variant COCA-CN 2 187703843 187703843 single base substitution T C missense_variant I113V 337A>G COCA-CN 2 187712528 187712528 single base substitution A C splice_region_variant EOPC-DE 2 187695570 187695570 single base substitution C T intron_variant ESAD-UK 2 187688979 187688979 single base substitution T A downstream_gene_variant ESAD-UK 2 187688987 187688987 single base substitution A C downstream_gene_variant ESAD-UK 2 187689712 187689712 single base substitution G A downstream_gene_variant ESAD-UK 2 187689882 187689882 single base substitution T G downstream_gene_variant ESAD-UK 2 187690094 187690094 single base substitution G A downstream_gene_variant ESAD-UK 2 187690203 187690203 single base substitution A T downstream_gene_variant ESAD-UK 2 187690205 187690205 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 187690684 187690684 single base substitution A G downstream_gene_variant ESAD-UK 2 187691921 187691921 single base substitution C A downstream_gene_variant ESAD-UK 2 187692435 187692435 single base substitution A G downstream_gene_variant ESAD-UK 2 187693480 187693480 single base substitution T G missense_variant K378T 1133A>C ESAD-UK 2 187693793 187693793 single base substitution C T intron_variant ESAD-UK 2 187693860 187693860 single base substitution G T intron_variant ESAD-UK 2 187693910 187693910 single base substitution T G intron_variant ESAD-UK 2 187694164 187694164 insertion of <=200bp - G intron_variant ESAD-UK 2 187694765 187694765 single base substitution A C intron_variant ESAD-UK 2 187695145 187695145 single base substitution A G intron_variant ESAD-UK 2 187695527 187695527 single base substitution C A intron_variant ESAD-UK 2 187695794 187695794 single base substitution T G intron_variant ESAD-UK 2 187697506 187697506 single base substitution G C intron_variant ESAD-UK 2 187698285 187698285 single base substitution T G intron_variant ESAD-UK 2 187698739 187698739 single base substitution T G missense_variant E254D 762A>C ESAD-UK 2 187699759 187699759 single base substitution C A intron_variant ESAD-UK 2 187701168 187701168 single base substitution G T intron_variant ESAD-UK 2 187701404 187701404 single base substitution A G intron_variant ESAD-UK 2 187702340 187702341 deletion of <=200bp TA - intron_variant ESAD-UK 2 187702358 187702358 single base substitution A T intron_variant ESAD-UK 2 187702621 187702621 single base substitution A C intron_variant ESAD-UK 2 187704834 187704834 single base substitution G A downstream_gene_variant ESAD-UK 2 187704834 187704834 single base substitution G A intron_variant ESAD-UK 2 187704848 187704848 single base substitution G A downstream_gene_variant ESAD-UK 2 187704848 187704848 single base substitution G A intron_variant ESAD-UK 2 187706950 187706950 single base substitution T C downstream_gene_variant ESAD-UK 2 187706950 187706950 single base substitution T C intron_variant ESAD-UK 2 187709258 187709258 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 187709258 187709258 deletion of <=200bp T - intron_variant ESAD-UK 2 187709651 187709651 single base substitution T G intron_variant ESAD-UK 2 187709903 187709903 single base substitution A T intron_variant ESAD-UK 2 187710104 187710104 single base substitution A G intron_variant ESAD-UK 2 187710340 187710340 single base substitution T G intron_variant ESAD-UK 2 187711333 187711333 single base substitution T C intron_variant ESAD-UK 2 187711939 187711939 single base substitution G T intron_variant ESAD-UK 2 187713030 187713030 single base substitution G T intron_variant ESAD-UK 2 187714107 187714107 single base substitution G A upstream_gene_variant ESAD-UK 2 187714617 187714617 single base substitution T C upstream_gene_variant ESAD-UK 2 187716963 187716963 single base substitution C T upstream_gene_variant ESAD-UK 2 187717524 187717524 single base substitution C G upstream_gene_variant GBM-US 2 187692829 187692829 single base substitution C G missense_variant S595T 1784G>C GBM-US 2 187693302 187693302 single base substitution T C synonymous_variant R437R 1311A>G GBM-US 2 187713851 187713851 single base substitution G T exon_variant GBM-US 2 187713851 187713851 single base substitution G T missense_variant R3S 7C>A KIRC-US 2 187692936 187692936 insertion of <=200bp - GGG inframe_insertion P559PP KIRC-US 2 187693068 187693068 single base substitution A C synonymous_variant P515P 1545T>G KIRP-US 2 187693177 187693177 single base substitution T A missense_variant N479I 1436A>T LGG-US 2 187698677 187698677 single base substitution C T missense_variant R275H 824G>A LGG-US 2 187702143 187702143 single base substitution G A synonymous_variant F211F 633C>T LGG-US 2 187712478 187712478 single base substitution C T 3_prime_UTR_variant LGG-US 2 187712478 187712478 single base substitution C T synonymous_variant P70P 210G>A LICA-CN 2 187692898 187692898 single base substitution A T stop_gained L572* 1715T>A LICA-CN 2 187694516 187694516 single base substitution G C missense_variant L345V 1033C>G LICA-CN 2 187709485 187709485 single base substitution C A splice_acceptor_variant LICA-FR 2 187692773 187692773 single base substitution A T missense_variant S614T 1840T>A LICA-FR 2 187692816 187692816 single base substitution C A synonymous_variant G599G 1797G>T LICA-FR 2 187692859 187692859 single base substitution G T missense_variant T585K 1754C>A LICA-FR 2 187709389 187709389 single base substitution C G downstream_gene_variant LICA-FR 2 187709389 187709389 single base substitution C G intron_variant LIHC-US 2 187693106 187693106 single base substitution C A missense_variant V503L 1507G>T LIHC-US 2 187693382 187693382 single base substitution T C missense_variant R411G 1231A>G LIHC-US 2 187697904 187697904 single base substitution T A missense_variant Y295F 884A>T LIHC-US 2 187713759 187713759 single base substitution G C exon_variant LIHC-US 2 187713759 187713759 single base substitution G C synonymous_variant L33L 99C>G LINC-JP 2 187689775 187689775 single base substitution C T downstream_gene_variant LINC-JP 2 187692993 187692993 single base substitution A T missense_variant S540R 1620T>A LINC-JP 2 187694576 187694576 single base substitution A G missense_variant S325P 973T>C LINC-JP 2 187698707 187698707 single base substitution C A missense_variant C265F 794G>T LINC-JP 2 187698714 187698714 single base substitution C A missense_variant D263Y 787G>T LINC-JP 2 187698840 187698840 single base substitution C A intron_variant LINC-JP 2 187712530 187712530 single base substitution G A splice_region_variant LINC-JP 2 187712580 187712580 single base substitution A G intron_variant LIRI-JP 2 187688207 187688207 single base substitution C T downstream_gene_variant LIRI-JP 2 187689566 187689566 single base substitution A G downstream_gene_variant LIRI-JP 2 187689675 187689675 single base substitution A G downstream_gene_variant LIRI-JP 2 187690164 187690164 single base substitution C T downstream_gene_variant LIRI-JP 2 187691601 187691601 single base substitution A T downstream_gene_variant LIRI-JP 2 187691997 187691997 single base substitution A G downstream_gene_variant LIRI-JP 2 187692208 187692208 single base substitution T C downstream_gene_variant LIRI-JP 2 187692374 187692374 single base substitution C A downstream_gene_variant LIRI-JP 2 187692412 187692412 single base substitution A C downstream_gene_variant LIRI-JP 2 187692679 187692679 single base substitution A C 3_prime_UTR_variant LIRI-JP 2 187693980 187693980 single base substitution C T intron_variant LIRI-JP 2 187694495 187694495 single base substitution G T missense_variant H352N 1054C>A LIRI-JP 2 187694790 187694790 single base substitution A T intron_variant LIRI-JP 2 187694912 187694912 single base substitution G A intron_variant LIRI-JP 2 187695629 187695630 deletion of <=200bp AT - intron_variant LIRI-JP 2 187695814 187695814 single base substitution A G intron_variant LIRI-JP 2 187697077 187697077 single base substitution G T intron_variant LIRI-JP 2 187698730 187698730 single base substitution T C synonymous_variant L257L 771A>G LIRI-JP 2 187699520 187699520 single base substitution C A intron_variant LIRI-JP 2 187700024 187700024 single base substitution C T intron_variant LIRI-JP 2 187700136 187700136 single base substitution C T intron_variant LIRI-JP 2 187700874 187700874 single base substitution C A intron_variant LIRI-JP 2 187701313 187701313 single base substitution C T intron_variant LIRI-JP 2 187701348 187701348 single base substitution A T intron_variant LIRI-JP 2 187701882 187701882 single base substitution G C intron_variant LIRI-JP 2 187702133 187702133 single base substitution T C missense_variant S215G 643A>G LIRI-JP 2 187702521 187702521 single base substitution C G intron_variant LIRI-JP 2 187702965 187702965 single base substitution A G intron_variant LIRI-JP 2 187703089 187703089 single base substitution A T intron_variant LIRI-JP 2 187707083 187707083 single base substitution G T downstream_gene_variant LIRI-JP 2 187707083 187707083 single base substitution G T intron_variant LIRI-JP 2 187707151 187707151 single base substitution G T downstream_gene_variant LIRI-JP 2 187707151 187707151 single base substitution G T intron_variant LIRI-JP 2 187708885 187708885 single base substitution T C downstream_gene_variant LIRI-JP 2 187708885 187708885 single base substitution T C intron_variant LIRI-JP 2 187708890 187708890 single base substitution C A downstream_gene_variant LIRI-JP 2 187708890 187708890 single base substitution C A intron_variant LIRI-JP 2 187709003 187709003 single base substitution T C downstream_gene_variant LIRI-JP 2 187709003 187709003 single base substitution T C intron_variant LIRI-JP 2 187709938 187709938 single base substitution G A intron_variant LIRI-JP 2 187710516 187710516 single base substitution A G intron_variant LIRI-JP 2 187711299 187711299 single base substitution G A intron_variant LIRI-JP 2 187711632 187711632 single base substitution C A intron_variant LIRI-JP 2 187711907 187711907 single base substitution A G intron_variant LIRI-JP 2 187712216 187712216 single base substitution A G intron_variant LIRI-JP 2 187713423 187713423 single base substitution T A intron_variant LIRI-JP 2 187713423 187713423 single base substitution T A splice_region_variant LIRI-JP 2 187713565 187713565 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 187713565 187713565 single base substitution G A intron_variant LIRI-JP 2 187715561 187715561 single base substitution T A upstream_gene_variant LIRI-JP 2 187716341 187716341 single base substitution G T upstream_gene_variant LIRI-JP 2 187716758 187716758 single base substitution T A upstream_gene_variant LIRI-JP 2 187716872 187716872 single base substitution A G upstream_gene_variant LIRI-JP 2 187717256 187717256 single base substitution G T upstream_gene_variant LIRI-JP 2 187717395 187717395 single base substitution C A upstream_gene_variant LUSC-KR 2 187687736 187687736 single base substitution T C downstream_gene_variant LUSC-KR 2 187688294 187688294 single base substitution T C downstream_gene_variant LUSC-KR 2 187688297 187688297 single base substitution A G downstream_gene_variant LUSC-KR 2 187691251 187691251 single base substitution C A downstream_gene_variant LUSC-KR 2 187692128 187692128 single base substitution G T downstream_gene_variant LUSC-KR 2 187694594 187694594 single base substitution G A missense_variant P319S 955C>T LUSC-KR 2 187695854 187695854 single base substitution C A intron_variant LUSC-KR 2 187698019 187698019 single base substitution G T intron_variant LUSC-KR 2 187699237 187699237 single base substitution T G intron_variant LUSC-KR 2 187700884 187700884 single base substitution C A intron_variant LUSC-KR 2 187703056 187703056 single base substitution A G intron_variant LUSC-KR 2 187704780 187704780 single base substitution C A downstream_gene_variant LUSC-KR 2 187704780 187704780 single base substitution C A intron_variant LUSC-KR 2 187704930 187704930 single base substitution G C downstream_gene_variant LUSC-KR 2 187704930 187704930 single base substitution G C intron_variant LUSC-KR 2 187708474 187708474 single base substitution G T downstream_gene_variant LUSC-KR 2 187708474 187708474 single base substitution G T intron_variant LUSC-KR 2 187712070 187712070 single base substitution C A intron_variant LUSC-KR 2 187718592 187718592 single base substitution G T upstream_gene_variant LUSC-US 2 187693061 187693061 single base substitution C T missense_variant V518I 1552G>A LUSC-US 2 187693346 187693346 single base substitution C A missense_variant D423Y 1267G>T LUSC-US 2 187694599 187694599 single base substitution T C missense_variant Y317C 950A>G LUSC-US 2 187702112 187702112 single base substitution C G missense_variant E222Q 664G>C LUSC-US 2 187709452 187709452 single base substitution T A downstream_gene_variant LUSC-US 2 187709452 187709452 single base substitution T A missense_variant N92I 275A>T LUSC-US 2 187712502 187712502 single base substitution G C 3_prime_UTR_variant LUSC-US 2 187712502 187712502 single base substitution G C missense_variant H62Q 186C>G MALY-DE 2 187690204 187690204 deletion of <=200bp T - downstream_gene_variant MALY-DE 2 187693289 187693289 single base substitution G C missense_variant P442A 1324C>G MALY-DE 2 187694761 187694761 deletion of <=200bp A - intron_variant MALY-DE 2 187699267 187699267 single base substitution G A intron_variant MALY-DE 2 187701727 187701727 single base substitution A G intron_variant MALY-DE 2 187708552 187708552 single base substitution A C downstream_gene_variant MALY-DE 2 187708552 187708552 single base substitution A C intron_variant MALY-DE 2 187713039 187713039 single base substitution A G intron_variant MALY-DE 2 187714004 187714004 single base substitution G A upstream_gene_variant MALY-DE 2 187714433 187714433 single base substitution C T upstream_gene_variant MALY-DE 2 187715574 187715574 single base substitution A G upstream_gene_variant MALY-DE 2 187716414 187716414 single base substitution A G upstream_gene_variant MALY-DE 2 187717436 187717436 single base substitution T C upstream_gene_variant MALY-DE 2 187717943 187717943 single base substitution T A upstream_gene_variant MALY-DE 2 187718211 187718211 single base substitution T C upstream_gene_variant MELA-AU 2 187687620 187687620 single base substitution G A downstream_gene_variant MELA-AU 2 187687790 187687790 single base substitution C T downstream_gene_variant MELA-AU 2 187687829 187687829 single base substitution G A downstream_gene_variant MELA-AU 2 187687837 187687837 single base substitution G A downstream_gene_variant MELA-AU 2 187687896 187687896 single base substitution C T downstream_gene_variant MELA-AU 2 187688181 187688181 single base substitution G A downstream_gene_variant MELA-AU 2 187688203 187688203 single base substitution A G downstream_gene_variant MELA-AU 2 187688220 187688220 single base substitution G A downstream_gene_variant MELA-AU 2 187688488 187688488 single base substitution T G downstream_gene_variant MELA-AU 2 187688553 187688554 multiple base substitution (>=2bp and <=200bp) GG TT downstream_gene_variant MELA-AU 2 187688659 187688659 single base substitution G A downstream_gene_variant MELA-AU 2 187688746 187688746 single base substitution G A downstream_gene_variant MELA-AU 2 187688801 187688801 single base substitution G A downstream_gene_variant MELA-AU 2 187688813 187688813 single base substitution G A downstream_gene_variant MELA-AU 2 187688921 187688921 single base substitution G A downstream_gene_variant MELA-AU 2 187689003 187689003 single base substitution C T downstream_gene_variant MELA-AU 2 187689007 187689007 single base substitution G A downstream_gene_variant MELA-AU 2 187689077 187689077 single base substitution C T downstream_gene_variant MELA-AU 2 187689232 187689232 single base substitution C T downstream_gene_variant MELA-AU 2 187689292 187689292 single base substitution G A downstream_gene_variant MELA-AU 2 187689316 187689316 single base substitution G A downstream_gene_variant MELA-AU 2 187689347 187689347 single base substitution G A downstream_gene_variant MELA-AU 2 187689398 187689398 single base substitution A C downstream_gene_variant MELA-AU 2 187689398 187689398 single base substitution A G downstream_gene_variant MELA-AU 2 187689406 187689406 single base substitution G A downstream_gene_variant MELA-AU 2 187689508 187689508 single base substitution C T downstream_gene_variant MELA-AU 2 187689516 187689516 single base substitution C T downstream_gene_variant MELA-AU 2 187689562 187689562 single base substitution C T downstream_gene_variant MELA-AU 2 187689563 187689563 single base substitution T G downstream_gene_variant MELA-AU 2 187689572 187689572 single base substitution C T downstream_gene_variant MELA-AU 2 187689637 187689637 single base substitution T G downstream_gene_variant MELA-AU 2 187689732 187689732 single base substitution C T downstream_gene_variant MELA-AU 2 187689778 187689778 single base substitution G A downstream_gene_variant MELA-AU 2 187689810 187689810 single base substitution C T downstream_gene_variant MELA-AU 2 187689841 187689841 single base substitution C T downstream_gene_variant MELA-AU 2 187689900 187689900 single base substitution G A downstream_gene_variant MELA-AU 2 187689914 187689914 single base substitution C T downstream_gene_variant MELA-AU 2 187690071 187690071 single base substitution G A downstream_gene_variant MELA-AU 2 187690203 187690203 single base substitution A T downstream_gene_variant MELA-AU 2 187690205 187690205 single base substitution T A downstream_gene_variant MELA-AU 2 187690215 187690215 single base substitution C T downstream_gene_variant MELA-AU 2 187690285 187690285 single base substitution G A downstream_gene_variant MELA-AU 2 187690315 187690315 single base substitution G A downstream_gene_variant MELA-AU 2 187690357 187690357 single base substitution C T downstream_gene_variant MELA-AU 2 187690390 187690390 single base substitution G A downstream_gene_variant MELA-AU 2 187690419 187690419 single base substitution C T downstream_gene_variant MELA-AU 2 187690542 187690542 single base substitution G A downstream_gene_variant MELA-AU 2 187690565 187690565 single base substitution C T downstream_gene_variant MELA-AU 2 187690569 187690569 single base substitution C T downstream_gene_variant MELA-AU 2 187690697 187690697 single base substitution C T downstream_gene_variant MELA-AU 2 187690709 187690709 single base substitution C T downstream_gene_variant MELA-AU 2 187690768 187690768 single base substitution G A downstream_gene_variant MELA-AU 2 187690838 187690838 single base substitution C T downstream_gene_variant MELA-AU 2 187690904 187690904 single base substitution G A downstream_gene_variant MELA-AU 2 187690905 187690905 single base substitution A T downstream_gene_variant MELA-AU 2 187690969 187690969 single base substitution C T downstream_gene_variant MELA-AU 2 187691117 187691117 single base substitution G T downstream_gene_variant MELA-AU 2 187691129 187691129 single base substitution G A downstream_gene_variant MELA-AU 2 187691158 187691158 single base substitution G A downstream_gene_variant MELA-AU 2 187691206 187691206 single base substitution G A downstream_gene_variant MELA-AU 2 187691317 187691317 single base substitution G A downstream_gene_variant MELA-AU 2 187691390 187691390 single base substitution G A downstream_gene_variant MELA-AU 2 187691420 187691420 single base substitution G A downstream_gene_variant MELA-AU 2 187691575 187691575 single base substitution G A downstream_gene_variant MELA-AU 2 187691582 187691582 single base substitution C T downstream_gene_variant MELA-AU 2 187691586 187691586 single base substitution G A downstream_gene_variant MELA-AU 2 187691633 187691633 single base substitution C T downstream_gene_variant MELA-AU 2 187691864 187691864 single base substitution G A downstream_gene_variant MELA-AU 2 187691883 187691883 single base substitution C T downstream_gene_variant MELA-AU 2 187691941 187691941 single base substitution G A downstream_gene_variant MELA-AU 2 187691973 187691973 single base substitution C T downstream_gene_variant MELA-AU 2 187692009 187692009 single base substitution G A downstream_gene_variant MELA-AU 2 187692239 187692239 single base substitution C T downstream_gene_variant MELA-AU 2 187692260 187692260 single base substitution C T downstream_gene_variant MELA-AU 2 187692377 187692377 single base substitution G A downstream_gene_variant MELA-AU 2 187692486 187692486 single base substitution C T downstream_gene_variant MELA-AU 2 187692504 187692504 single base substitution G A downstream_gene_variant MELA-AU 2 187692815 187692815 single base substitution C T missense_variant E600K 1798G>A MELA-AU 2 187692816 187692816 single base substitution C T synonymous_variant G599G 1797G>A MELA-AU 2 187692861 187692861 single base substitution G T missense_variant S584R 1752C>A MELA-AU 2 187692920 187692920 single base substitution C T missense_variant E565K 1693G>A MELA-AU 2 187693001 187693001 single base substitution G A missense_variant H538Y 1612C>T MELA-AU 2 187693040 187693040 single base substitution G A missense_variant P525S 1573C>T MELA-AU 2 187693095 187693095 single base substitution C T synonymous_variant G506G 1518G>A MELA-AU 2 187693180 187693180 single base substitution G A missense_variant S478L 1433C>T MELA-AU 2 187693211 187693211 single base substitution C T missense_variant D468N 1402G>A MELA-AU 2 187693297 187693297 single base substitution C T missense_variant G439E 1316G>A MELA-AU 2 187693337 187693337 single base substitution T A missense_variant I426F 1276A>T MELA-AU 2 187693381 187693381 single base substitution C T missense_variant R411K 1232G>A MELA-AU 2 187693509 187693509 single base substitution C T synonymous_variant R368R 1104G>A MELA-AU 2 187693585 187693585 single base substitution C T intron_variant MELA-AU 2 187693637 187693637 single base substitution A T intron_variant MELA-AU 2 187693716 187693716 single base substitution C T intron_variant MELA-AU 2 187693931 187693931 single base substitution G A intron_variant MELA-AU 2 187694168 187694168 single base substitution C T intron_variant MELA-AU 2 187694268 187694268 single base substitution G T intron_variant MELA-AU 2 187694309 187694309 single base substitution G A intron_variant MELA-AU 2 187694713 187694713 single base substitution C T intron_variant MELA-AU 2 187694725 187694725 single base substitution G A intron_variant MELA-AU 2 187694733 187694733 single base substitution G A intron_variant MELA-AU 2 187694745 187694745 single base substitution C T intron_variant MELA-AU 2 187694762 187694762 single base substitution A T intron_variant MELA-AU 2 187694798 187694798 single base substitution C T intron_variant MELA-AU 2 187695341 187695341 single base substitution G A intron_variant MELA-AU 2 187695369 187695369 single base substitution G A intron_variant MELA-AU 2 187695427 187695427 single base substitution A T intron_variant MELA-AU 2 187695548 187695548 single base substitution A T intron_variant MELA-AU 2 187695778 187695778 single base substitution C T intron_variant MELA-AU 2 187695779 187695779 single base substitution C T intron_variant MELA-AU 2 187695822 187695822 single base substitution C T intron_variant MELA-AU 2 187695915 187695915 single base substitution G A intron_variant MELA-AU 2 187695936 187695936 single base substitution G A intron_variant MELA-AU 2 187696021 187696021 single base substitution G A intron_variant MELA-AU 2 187696036 187696036 single base substitution C T intron_variant MELA-AU 2 187696041 187696041 single base substitution G A intron_variant MELA-AU 2 187696043 187696043 single base substitution A C intron_variant MELA-AU 2 187696243 187696243 single base substitution C T intron_variant MELA-AU 2 187696382 187696382 single base substitution G A intron_variant MELA-AU 2 187696421 187696421 single base substitution C T intron_variant MELA-AU 2 187696424 187696424 single base substitution A G intron_variant MELA-AU 2 187696526 187696526 single base substitution C T intron_variant MELA-AU 2 187696576 187696576 single base substitution G A intron_variant MELA-AU 2 187696603 187696603 single base substitution G A intron_variant MELA-AU 2 187696685 187696685 single base substitution G A intron_variant MELA-AU 2 187696838 187696838 single base substitution C T intron_variant MELA-AU 2 187696933 187696933 single base substitution C T intron_variant MELA-AU 2 187697131 187697131 single base substitution G A intron_variant MELA-AU 2 187697173 187697173 single base substitution C T intron_variant MELA-AU 2 187697292 187697292 single base substitution G A intron_variant MELA-AU 2 187697318 187697318 single base substitution C T intron_variant MELA-AU 2 187697346 187697346 single base substitution A C intron_variant MELA-AU 2 187697365 187697365 single base substitution C T intron_variant MELA-AU 2 187697437 187697437 single base substitution G A intron_variant MELA-AU 2 187697438 187697438 single base substitution G A intron_variant MELA-AU 2 187697550 187697550 single base substitution C T intron_variant MELA-AU 2 187697577 187697577 single base substitution C T intron_variant MELA-AU 2 187697847 187697847 single base substitution C T missense_variant G314D 941G>A MELA-AU 2 187697854 187697854 single base substitution T A stop_gained K312* 934A>T MELA-AU 2 187697942 187697942 single base substitution C T stop_gained W282* 846G>A MELA-AU 2 187698148 187698148 single base substitution G A intron_variant MELA-AU 2 187698175 187698175 insertion of <=200bp - C intron_variant MELA-AU 2 187698275 187698275 single base substitution C T intron_variant MELA-AU 2 187698315 187698315 single base substitution A G intron_variant MELA-AU 2 187698447 187698447 single base substitution C T intron_variant MELA-AU 2 187698517 187698517 single base substitution G A intron_variant MELA-AU 2 187698578 187698578 single base substitution C T intron_variant MELA-AU 2 187698678 187698678 single base substitution G A missense_variant R275C 823C>T MELA-AU 2 187698813 187698813 single base substitution G A intron_variant MELA-AU 2 187698822 187698822 single base substitution G A intron_variant MELA-AU 2 187698843 187698843 single base substitution C T intron_variant MELA-AU 2 187699046 187699046 single base substitution C T intron_variant MELA-AU 2 187699064 187699064 single base substitution C T intron_variant MELA-AU 2 187699065 187699065 single base substitution C A intron_variant MELA-AU 2 187699195 187699195 single base substitution C T intron_variant MELA-AU 2 187699220 187699220 single base substitution G A intron_variant MELA-AU 2 187699272 187699272 single base substitution C T intron_variant MELA-AU 2 187699307 187699307 single base substitution G A intron_variant MELA-AU 2 187699316 187699316 single base substitution C T intron_variant MELA-AU 2 187699503 187699503 single base substitution C T intron_variant MELA-AU 2 187699504 187699504 single base substitution C T intron_variant MELA-AU 2 187699543 187699543 single base substitution C T intron_variant MELA-AU 2 187699623 187699623 single base substitution C T intron_variant MELA-AU 2 187699839 187699839 single base substitution C T intron_variant MELA-AU 2 187699901 187699901 single base substitution C T intron_variant MELA-AU 2 187699919 187699919 single base substitution G A intron_variant MELA-AU 2 187700033 187700033 single base substitution G A intron_variant MELA-AU 2 187700051 187700051 single base substitution A G intron_variant MELA-AU 2 187700077 187700077 single base substitution C T intron_variant MELA-AU 2 187700127 187700127 single base substitution G A intron_variant MELA-AU 2 187700344 187700344 single base substitution C T intron_variant MELA-AU 2 187700382 187700382 single base substitution G A intron_variant MELA-AU 2 187700400 187700400 single base substitution G A intron_variant MELA-AU 2 187700431 187700431 single base substitution C T intron_variant MELA-AU 2 187700453 187700453 single base substitution G A intron_variant MELA-AU 2 187700471 187700471 single base substitution C T intron_variant MELA-AU 2 187700559 187700559 single base substitution G A intron_variant MELA-AU 2 187700698 187700698 single base substitution G A intron_variant MELA-AU 2 187700860 187700860 single base substitution A C intron_variant MELA-AU 2 187700866 187700866 single base substitution C T intron_variant MELA-AU 2 187700914 187700914 single base substitution C T intron_variant MELA-AU 2 187700916 187700916 single base substitution C T intron_variant MELA-AU 2 187700930 187700930 single base substitution C T intron_variant MELA-AU 2 187700999 187700999 single base substitution C T intron_variant MELA-AU 2 187701005 187701005 single base substitution C T intron_variant MELA-AU 2 187701022 187701022 single base substitution C T intron_variant MELA-AU 2 187701103 187701103 single base substitution C T intron_variant MELA-AU 2 187701188 187701188 single base substitution A G intron_variant MELA-AU 2 187701373 187701373 single base substitution C T intron_variant MELA-AU 2 187701613 187701613 single base substitution C T intron_variant MELA-AU 2 187701650 187701650 single base substitution T C intron_variant MELA-AU 2 187701687 187701687 single base substitution G A intron_variant MELA-AU 2 187701749 187701749 single base substitution C T intron_variant MELA-AU 2 187701838 187701838 single base substitution A G intron_variant MELA-AU 2 187702078 187702078 single base substitution G A missense_variant P233L 698C>T MELA-AU 2 187702355 187702356 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 2 187702385 187702385 single base substitution C T intron_variant MELA-AU 2 187702435 187702435 single base substitution C T intron_variant MELA-AU 2 187702500 187702500 single base substitution G A intron_variant MELA-AU 2 187702520 187702520 single base substitution C T intron_variant MELA-AU 2 187702706 187702706 single base substitution G A intron_variant MELA-AU 2 187702772 187702772 single base substitution C T intron_variant MELA-AU 2 187703040 187703040 single base substitution G A intron_variant MELA-AU 2 187703041 187703041 single base substitution G T intron_variant MELA-AU 2 187703081 187703081 single base substitution A C intron_variant MELA-AU 2 187703199 187703199 single base substitution C T intron_variant MELA-AU 2 187703303 187703303 single base substitution A G intron_variant MELA-AU 2 187703447 187703447 single base substitution G A intron_variant MELA-AU 2 187703599 187703599 single base substitution C T intron_variant MELA-AU 2 187703627 187703627 single base substitution C T intron_variant MELA-AU 2 187703701 187703701 single base substitution G A missense_variant P160L 479C>T MELA-AU 2 187703719 187703719 single base substitution A T missense_variant L154H 461T>A MELA-AU 2 187703826 187703826 single base substitution A C synonymous_variant T118T 354T>G MELA-AU 2 187703867 187703867 single base substitution C T missense_variant E105K 313G>A MELA-AU 2 187704036 187704036 single base substitution C T intron_variant MELA-AU 2 187704105 187704105 single base substitution T A intron_variant MELA-AU 2 187704294 187704294 single base substitution C T intron_variant MELA-AU 2 187704494 187704494 single base substitution G A downstream_gene_variant MELA-AU 2 187704494 187704494 single base substitution G A intron_variant MELA-AU 2 187704522 187704522 single base substitution C T downstream_gene_variant MELA-AU 2 187704522 187704522 single base substitution C T intron_variant MELA-AU 2 187704536 187704536 single base substitution C T downstream_gene_variant MELA-AU 2 187704536 187704536 single base substitution C T intron_variant MELA-AU 2 187704543 187704543 single base substitution G A downstream_gene_variant MELA-AU 2 187704543 187704543 single base substitution G A intron_variant MELA-AU 2 187704641 187704641 single base substitution C G downstream_gene_variant MELA-AU 2 187704641 187704641 single base substitution C G intron_variant MELA-AU 2 187704642 187704642 single base substitution C T downstream_gene_variant MELA-AU 2 187704642 187704642 single base substitution C T intron_variant MELA-AU 2 187704833 187704833 single base substitution C T downstream_gene_variant MELA-AU 2 187704833 187704833 single base substitution C T intron_variant MELA-AU 2 187704948 187704948 single base substitution C T downstream_gene_variant MELA-AU 2 187704948 187704948 single base substitution C T intron_variant MELA-AU 2 187704959 187704959 single base substitution G A downstream_gene_variant MELA-AU 2 187704959 187704959 single base substitution G A intron_variant MELA-AU 2 187705101 187705101 single base substitution G A downstream_gene_variant MELA-AU 2 187705101 187705101 single base substitution G A intron_variant MELA-AU 2 187705117 187705117 single base substitution C T downstream_gene_variant MELA-AU 2 187705117 187705117 single base substitution C T intron_variant MELA-AU 2 187705366 187705366 single base substitution A G downstream_gene_variant MELA-AU 2 187705366 187705366 single base substitution A G intron_variant MELA-AU 2 187705463 187705463 single base substitution G A downstream_gene_variant MELA-AU 2 187705463 187705463 single base substitution G A intron_variant MELA-AU 2 187705541 187705541 single base substitution C T downstream_gene_variant MELA-AU 2 187705541 187705541 single base substitution C T intron_variant MELA-AU 2 187705542 187705542 single base substitution C T downstream_gene_variant MELA-AU 2 187705542 187705542 single base substitution C T intron_variant MELA-AU 2 187705652 187705652 single base substitution C T downstream_gene_variant MELA-AU 2 187705652 187705652 single base substitution C T intron_variant MELA-AU 2 187705980 187705980 single base substitution C T downstream_gene_variant MELA-AU 2 187705980 187705980 single base substitution C T intron_variant MELA-AU 2 187706151 187706151 single base substitution G A downstream_gene_variant MELA-AU 2 187706151 187706151 single base substitution G A intron_variant MELA-AU 2 187706579 187706579 single base substitution A T downstream_gene_variant MELA-AU 2 187706579 187706579 single base substitution A T intron_variant MELA-AU 2 187706589 187706589 single base substitution C T downstream_gene_variant MELA-AU 2 187706589 187706589 single base substitution C T intron_variant MELA-AU 2 187706614 187706614 single base substitution C T downstream_gene_variant MELA-AU 2 187706614 187706614 single base substitution C T intron_variant MELA-AU 2 187706620 187706620 single base substitution T G downstream_gene_variant MELA-AU 2 187706620 187706620 single base substitution T G intron_variant MELA-AU 2 187706660 187706660 single base substitution T C downstream_gene_variant MELA-AU 2 187706660 187706660 single base substitution T C intron_variant MELA-AU 2 187706670 187706670 single base substitution G A downstream_gene_variant MELA-AU 2 187706670 187706670 single base substitution G A intron_variant MELA-AU 2 187706702 187706702 single base substitution G A downstream_gene_variant MELA-AU 2 187706702 187706702 single base substitution G A intron_variant MELA-AU 2 187706793 187706793 single base substitution G A downstream_gene_variant MELA-AU 2 187706793 187706793 single base substitution G A intron_variant MELA-AU 2 187707029 187707029 single base substitution C T downstream_gene_variant MELA-AU 2 187707029 187707029 single base substitution C T intron_variant MELA-AU 2 187707082 187707082 single base substitution G A downstream_gene_variant MELA-AU 2 187707082 187707082 single base substitution G A intron_variant MELA-AU 2 187707083 187707083 single base substitution G A downstream_gene_variant MELA-AU 2 187707083 187707083 single base substitution G A intron_variant MELA-AU 2 187707152 187707152 single base substitution G A downstream_gene_variant MELA-AU 2 187707152 187707152 single base substitution G A intron_variant MELA-AU 2 187707233 187707233 single base substitution C T downstream_gene_variant MELA-AU 2 187707233 187707233 single base substitution C T intron_variant MELA-AU 2 187707234 187707234 single base substitution G A downstream_gene_variant MELA-AU 2 187707234 187707234 single base substitution G A intron_variant MELA-AU 2 187707336 187707336 single base substitution G A downstream_gene_variant MELA-AU 2 187707336 187707336 single base substitution G A intron_variant MELA-AU 2 187707772 187707772 single base substitution C A downstream_gene_variant MELA-AU 2 187707772 187707772 single base substitution C A intron_variant MELA-AU 2 187707964 187707964 single base substitution G A downstream_gene_variant MELA-AU 2 187707964 187707964 single base substitution G A intron_variant MELA-AU 2 187708002 187708002 single base substitution C T downstream_gene_variant MELA-AU 2 187708002 187708002 single base substitution C T intron_variant MELA-AU 2 187708051 187708051 single base substitution G A downstream_gene_variant MELA-AU 2 187708051 187708051 single base substitution G A intron_variant MELA-AU 2 187708381 187708381 single base substitution G A downstream_gene_variant MELA-AU 2 187708381 187708381 single base substitution G A intron_variant MELA-AU 2 187708528 187708528 single base substitution G A downstream_gene_variant MELA-AU 2 187708528 187708528 single base substitution G A intron_variant MELA-AU 2 187708579 187708579 single base substitution C T downstream_gene_variant MELA-AU 2 187708579 187708579 single base substitution C T intron_variant MELA-AU 2 187708581 187708581 single base substitution C T downstream_gene_variant MELA-AU 2 187708581 187708581 single base substitution C T intron_variant MELA-AU 2 187708665 187708665 single base substitution G A downstream_gene_variant MELA-AU 2 187708665 187708665 single base substitution G A intron_variant MELA-AU 2 187708909 187708909 single base substitution C G downstream_gene_variant MELA-AU 2 187708909 187708909 single base substitution C G intron_variant MELA-AU 2 187708993 187708993 single base substitution C T downstream_gene_variant MELA-AU 2 187708993 187708993 single base substitution C T intron_variant MELA-AU 2 187709204 187709204 single base substitution C T downstream_gene_variant MELA-AU 2 187709204 187709204 single base substitution C T intron_variant MELA-AU 2 187709375 187709375 single base substitution C T downstream_gene_variant MELA-AU 2 187709375 187709375 single base substitution C T intron_variant MELA-AU 2 187709438 187709439 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 2 187709438 187709439 multiple base substitution (>=2bp and <=200bp) AC TT splice_region_variant MELA-AU 2 187709455 187709455 single base substitution C T downstream_gene_variant MELA-AU 2 187709455 187709455 single base substitution C T missense_variant R91K 272G>A MELA-AU 2 187709722 187709722 single base substitution T C intron_variant MELA-AU 2 187709738 187709738 single base substitution C T intron_variant MELA-AU 2 187709869 187709869 single base substitution C T intron_variant MELA-AU 2 187709893 187709893 single base substitution G A intron_variant MELA-AU 2 187709903 187709903 single base substitution A T intron_variant MELA-AU 2 187709957 187709957 single base substitution G A intron_variant MELA-AU 2 187710000 187710000 single base substitution T C intron_variant MELA-AU 2 187710113 187710113 single base substitution A G intron_variant MELA-AU 2 187710182 187710182 single base substitution C T intron_variant MELA-AU 2 187710321 187710321 single base substitution G A intron_variant MELA-AU 2 187710322 187710322 single base substitution G A intron_variant MELA-AU 2 187710344 187710344 single base substitution C T intron_variant MELA-AU 2 187710362 187710362 single base substitution C T intron_variant MELA-AU 2 187710460 187710460 single base substitution G A intron_variant MELA-AU 2 187710518 187710518 single base substitution G A intron_variant MELA-AU 2 187710610 187710610 single base substitution G A intron_variant MELA-AU 2 187710622 187710622 single base substitution C T intron_variant MELA-AU 2 187710721 187710721 single base substitution T A intron_variant MELA-AU 2 187710827 187710827 single base substitution A T intron_variant MELA-AU 2 187710937 187710937 single base substitution A G intron_variant MELA-AU 2 187710986 187710986 single base substitution C T intron_variant MELA-AU 2 187711049 187711049 single base substitution G A intron_variant MELA-AU 2 187711064 187711064 single base substitution T A intron_variant MELA-AU 2 187711155 187711155 single base substitution G A intron_variant MELA-AU 2 187711196 187711196 single base substitution G A intron_variant MELA-AU 2 187711217 187711217 single base substitution G A intron_variant MELA-AU 2 187711301 187711301 single base substitution G A intron_variant MELA-AU 2 187711463 187711463 single base substitution C T intron_variant MELA-AU 2 187711478 187711478 single base substitution A G intron_variant MELA-AU 2 187711595 187711595 single base substitution C T intron_variant MELA-AU 2 187711760 187711760 single base substitution G A intron_variant MELA-AU 2 187711765 187711765 single base substitution G A intron_variant MELA-AU 2 187711966 187711966 single base substitution G A intron_variant MELA-AU 2 187711973 187711973 single base substitution A G intron_variant MELA-AU 2 187712004 187712004 single base substitution G A intron_variant MELA-AU 2 187712079 187712079 single base substitution G A intron_variant MELA-AU 2 187712149 187712149 single base substitution G A intron_variant MELA-AU 2 187712282 187712282 single base substitution G A intron_variant MELA-AU 2 187712349 187712349 single base substitution C T intron_variant MELA-AU 2 187712531 187712531 single base substitution G A intron_variant MELA-AU 2 187712636 187712636 single base substitution T C intron_variant MELA-AU 2 187712718 187712718 single base substitution A T intron_variant MELA-AU 2 187712726 187712726 single base substitution G A intron_variant MELA-AU 2 187712753 187712753 single base substitution G T intron_variant MELA-AU 2 187712816 187712816 single base substitution C T intron_variant MELA-AU 2 187712828 187712828 single base substitution G A intron_variant MELA-AU 2 187713093 187713093 single base substitution T G intron_variant MELA-AU 2 187713275 187713275 single base substitution G A intron_variant MELA-AU 2 187713339 187713339 single base substitution C T intron_variant MELA-AU 2 187713342 187713342 single base substitution T G intron_variant MELA-AU 2 187713851 187713851 single base substitution G A exon_variant MELA-AU 2 187713851 187713851 single base substitution G A missense_variant R3C 7C>T MELA-AU 2 187714015 187714015 single base substitution G A upstream_gene_variant MELA-AU 2 187714378 187714378 single base substitution G A upstream_gene_variant MELA-AU 2 187714458 187714458 single base substitution G A upstream_gene_variant MELA-AU 2 187714527 187714527 single base substitution C G upstream_gene_variant MELA-AU 2 187714529 187714529 single base substitution C G upstream_gene_variant MELA-AU 2 187714694 187714694 single base substitution G A upstream_gene_variant MELA-AU 2 187714808 187714808 single base substitution G A upstream_gene_variant MELA-AU 2 187714981 187714981 single base substitution G A upstream_gene_variant MELA-AU 2 187715061 187715061 single base substitution G A upstream_gene_variant MELA-AU 2 187715104 187715104 single base substitution C T upstream_gene_variant MELA-AU 2 187715249 187715249 single base substitution G A upstream_gene_variant MELA-AU 2 187715332 187715332 single base substitution A C upstream_gene_variant MELA-AU 2 187715565 187715565 single base substitution C T upstream_gene_variant MELA-AU 2 187715651 187715651 single base substitution C T upstream_gene_variant MELA-AU 2 187715652 187715652 single base substitution C T upstream_gene_variant MELA-AU 2 187715848 187715848 single base substitution G A upstream_gene_variant MELA-AU 2 187715889 187715889 single base substitution C T upstream_gene_variant MELA-AU 2 187715919 187715919 single base substitution C T upstream_gene_variant MELA-AU 2 187715932 187715932 single base substitution G A upstream_gene_variant MELA-AU 2 187715938 187715938 single base substitution G A upstream_gene_variant MELA-AU 2 187716021 187716021 single base substitution G A upstream_gene_variant MELA-AU 2 187716064 187716064 single base substitution G A upstream_gene_variant MELA-AU 2 187716165 187716165 single base substitution G A upstream_gene_variant MELA-AU 2 187716389 187716389 single base substitution G A upstream_gene_variant MELA-AU 2 187716396 187716396 single base substitution C T upstream_gene_variant MELA-AU 2 187716398 187716398 single base substitution G A upstream_gene_variant MELA-AU 2 187716435 187716435 single base substitution G A upstream_gene_variant MELA-AU 2 187716551 187716551 single base substitution T A upstream_gene_variant MELA-AU 2 187716649 187716649 single base substitution G A upstream_gene_variant MELA-AU 2 187716716 187716716 single base substitution G T upstream_gene_variant MELA-AU 2 187716822 187716822 single base substitution C A upstream_gene_variant MELA-AU 2 187716965 187716965 single base substitution C T upstream_gene_variant MELA-AU 2 187717063 187717063 single base substitution C T upstream_gene_variant MELA-AU 2 187717070 187717070 single base substitution C G upstream_gene_variant MELA-AU 2 187717109 187717109 single base substitution G A upstream_gene_variant MELA-AU 2 187717234 187717234 single base substitution G A upstream_gene_variant MELA-AU 2 187717246 187717246 single base substitution C T upstream_gene_variant MELA-AU 2 187717248 187717248 single base substitution G A upstream_gene_variant MELA-AU 2 187717273 187717273 single base substitution C T upstream_gene_variant MELA-AU 2 187717344 187717344 single base substitution G A upstream_gene_variant MELA-AU 2 187717434 187717434 single base substitution G C upstream_gene_variant MELA-AU 2 187717593 187717593 single base substitution C T upstream_gene_variant MELA-AU 2 187718057 187718057 single base substitution G A upstream_gene_variant MELA-AU 2 187718226 187718226 single base substitution C T upstream_gene_variant MELA-AU 2 187718328 187718328 single base substitution G A upstream_gene_variant MELA-AU 2 187718348 187718348 single base substitution G A upstream_gene_variant MELA-AU 2 187718401 187718401 single base substitution G A upstream_gene_variant MELA-AU 2 187718527 187718527 single base substitution C T upstream_gene_variant MELA-AU 2 187718569 187718569 single base substitution C T upstream_gene_variant MELA-AU 2 187718857 187718857 single base substitution G A upstream_gene_variant MELA-AU 2 187718915 187718915 single base substitution C T upstream_gene_variant ORCA-IN 2 187690940 187690940 single base substitution C A downstream_gene_variant ORCA-IN 2 187697299 187697300 multiple base substitution (>=2bp and <=200bp) AG TT intron_variant ORCA-IN 2 187713719 187713719 single base substitution C A exon_variant ORCA-IN 2 187713719 187713719 single base substitution C A stop_gained E47* 139G>T ORCA-IN 2 187713720 187713720 single base substitution C A exon_variant ORCA-IN 2 187713720 187713720 single base substitution C A missense_variant E46D 138G>T OV-AU 2 187687725 187687725 single base substitution T C downstream_gene_variant OV-AU 2 187689686 187689686 single base substitution C T downstream_gene_variant OV-AU 2 187692086 187692086 single base substitution G T downstream_gene_variant OV-AU 2 187692945 187692945 single base substitution C G missense_variant K556N 1668G>C OV-AU 2 187696216 187696216 single base substitution G A intron_variant OV-AU 2 187698404 187698404 single base substitution G C intron_variant OV-AU 2 187700193 187700193 single base substitution T G intron_variant OV-AU 2 187702145 187702145 single base substitution A T missense_variant F211I 631T>A OV-AU 2 187706909 187706909 single base substitution T C downstream_gene_variant OV-AU 2 187706909 187706909 single base substitution T C intron_variant OV-AU 2 187711514 187711514 single base substitution A T intron_variant OV-AU 2 187712838 187712838 single base substitution T A intron_variant OV-AU 2 187713532 187713532 single base substitution G A 3_prime_UTR_variant OV-AU 2 187713532 187713532 single base substitution G A intron_variant PACA-AU 2 187689624 187689624 single base substitution C T downstream_gene_variant PACA-AU 2 187691102 187691102 single base substitution G A downstream_gene_variant PACA-AU 2 187694183 187694191 deletion of <=200bp TAAAGTAGA - intron_variant PACA-AU 2 187694880 187694880 single base substitution G T intron_variant PACA-AU 2 187695247 187695247 single base substitution G A intron_variant PACA-AU 2 187700006 187700006 single base substitution T G intron_variant PACA-AU 2 187700832 187700832 single base substitution G A intron_variant PACA-AU 2 187703072 187703086 deletion of <=200bp AGTAAAAAAAAAAAA - intron_variant PACA-AU 2 187705959 187705959 single base substitution T G downstream_gene_variant PACA-AU 2 187705959 187705959 single base substitution T G intron_variant PACA-AU 2 187706785 187706785 single base substitution C T downstream_gene_variant PACA-AU 2 187706785 187706785 single base substitution C T intron_variant PACA-AU 2 187709088 187709088 deletion of <=200bp A - downstream_gene_variant PACA-AU 2 187709088 187709088 deletion of <=200bp A - intron_variant PACA-AU 2 187711538 187711538 insertion of <=200bp - ATATATATATATATAT intron_variant PACA-AU 2 187713004 187713004 deletion of <=200bp A - intron_variant PACA-AU 2 187714105 187714105 single base substitution C T upstream_gene_variant PACA-CA 2 187687865 187687865 single base substitution C A downstream_gene_variant PACA-CA 2 187690204 187690204 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 187691044 187691044 deletion of <=200bp G - downstream_gene_variant PACA-CA 2 187692128 187692136 deletion of <=200bp GATAATAGT - downstream_gene_variant PACA-CA 2 187693123 187693123 single base substitution A C missense_variant L497R 1490T>G PACA-CA 2 187696697 187696697 single base substitution C T intron_variant PACA-CA 2 187699961 187699961 deletion of <=200bp A - intron_variant PACA-CA 2 187708328 187708328 single base substitution A T downstream_gene_variant PACA-CA 2 187708328 187708328 single base substitution A T intron_variant PACA-CA 2 187710116 187710116 insertion of <=200bp - A intron_variant PACA-CA 2 187711514 187711515 deletion of <=200bp AT - intron_variant PACA-CA 2 187711584 187711584 single base substitution T C intron_variant PACA-CA 2 187711989 187711989 single base substitution G A intron_variant PACA-CA 2 187712787 187712787 insertion of <=200bp - A intron_variant PACA-CA 2 187714334 187714334 single base substitution T C upstream_gene_variant PACA-CA 2 187716116 187716116 single base substitution C T upstream_gene_variant PAEN-AU 2 187687661 187687661 single base substitution C G downstream_gene_variant PAEN-AU 2 187695647 187695647 single base substitution T C intron_variant PAEN-AU 2 187702092 187702092 single base substitution T A missense_variant K228N 684A>T PAEN-AU 2 187718285 187718285 single base substitution G C upstream_gene_variant PAEN-IT 2 187690207 187690207 single base substitution T A downstream_gene_variant PBCA-DE 2 187690205 187690205 single base substitution T A downstream_gene_variant PBCA-DE 2 187690884 187690884 single base substitution G A downstream_gene_variant PBCA-DE 2 187695624 187695624 single base substitution T C intron_variant PBCA-DE 2 187699253 187699253 single base substitution G A intron_variant PBCA-DE 2 187702451 187702452 deletion of <=200bp AC - intron_variant PBCA-DE 2 187707335 187707335 single base substitution C T downstream_gene_variant PBCA-DE 2 187707335 187707335 single base substitution C T intron_variant PBCA-DE 2 187712117 187712117 single base substitution G T intron_variant PRAD-CA 2 187688694 187688694 single base substitution G A downstream_gene_variant PRAD-CA 2 187696123 187696123 single base substitution A C intron_variant PRAD-CA 2 187699688 187699688 single base substitution A T intron_variant PRAD-CA 2 187714361 187714361 single base substitution T C upstream_gene_variant PRAD-CA 2 187715913 187715913 single base substitution A G upstream_gene_variant PRAD-CA 2 187717970 187717970 single base substitution G A upstream_gene_variant PRAD-CA 2 187718555 187718555 single base substitution C G upstream_gene_variant PRAD-UK 2 187703057 187703057 single base substitution T C intron_variant PRAD-UK 2 187703635 187703635 single base substitution T C intron_variant PRAD-UK 2 187715846 187715846 deletion of <=200bp T - upstream_gene_variant PRAD-US 2 187693166 187693166 single base substitution A T missense_variant L483I 1447T>A READ-US 2 187693253 187693253 single base substitution T C missense_variant T454A 1360A>G RECA-EU 2 187694294 187694294 single base substitution C A intron_variant RECA-EU 2 187695244 187695244 single base substitution T A intron_variant RECA-EU 2 187704454 187704454 single base substitution C G intron_variant RECA-EU 2 187704755 187704755 single base substitution T A downstream_gene_variant RECA-EU 2 187704755 187704755 single base substitution T A intron_variant RECA-EU 2 187705129 187705129 single base substitution C T downstream_gene_variant RECA-EU 2 187705129 187705129 single base substitution C T intron_variant RECA-EU 2 187710318 187710318 single base substitution A T intron_variant RECA-EU 2 187712204 187712204 single base substitution T A intron_variant SKCA-BR 2 187688309 187688309 single base substitution C T downstream_gene_variant SKCA-BR 2 187688405 187688405 single base substitution G A downstream_gene_variant SKCA-BR 2 187689007 187689007 insertion of <=200bp - GAAA downstream_gene_variant SKCA-BR 2 187689056 187689056 single base substitution G A downstream_gene_variant SKCA-BR 2 187689077 187689077 single base substitution C T downstream_gene_variant SKCA-BR 2 187690205 187690205 single base substitution T A downstream_gene_variant SKCA-BR 2 187691257 187691257 single base substitution C T downstream_gene_variant SKCA-BR 2 187692280 187692281 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 2 187693095 187693095 single base substitution C T synonymous_variant G506G 1518G>A SKCA-BR 2 187693265 187693265 single base substitution C T missense_variant D450N 1348G>A SKCA-BR 2 187693551 187693551 single base substitution C G intron_variant SKCA-BR 2 187693629 187693629 single base substitution G A intron_variant SKCA-BR 2 187695295 187695295 single base substitution G A intron_variant SKCA-BR 2 187695391 187695391 single base substitution A G intron_variant SKCA-BR 2 187695773 187695773 single base substitution C T intron_variant SKCA-BR 2 187695997 187695997 single base substitution C T intron_variant SKCA-BR 2 187696599 187696599 single base substitution T C intron_variant SKCA-BR 2 187697063 187697063 single base substitution G A intron_variant SKCA-BR 2 187697197 187697197 single base substitution C T intron_variant SKCA-BR 2 187697506 187697506 single base substitution G T intron_variant SKCA-BR 2 187697535 187697535 single base substitution C T intron_variant SKCA-BR 2 187699110 187699110 single base substitution C T intron_variant SKCA-BR 2 187699902 187699902 single base substitution C T intron_variant SKCA-BR 2 187700419 187700419 single base substitution T G intron_variant SKCA-BR 2 187701594 187701594 single base substitution G A intron_variant SKCA-BR 2 187702224 187702224 single base substitution C T synonymous_variant Q184Q 552G>A SKCA-BR 2 187703294 187703295 deletion of <=200bp TA - intron_variant SKCA-BR 2 187703300 187703300 single base substitution T G intron_variant SKCA-BR 2 187703804 187703804 single base substitution C T missense_variant E126K 376G>A SKCA-BR 2 187704348 187704348 single base substitution G A intron_variant SKCA-BR 2 187704544 187704544 single base substitution G A downstream_gene_variant SKCA-BR 2 187704544 187704544 single base substitution G A intron_variant SKCA-BR 2 187708359 187708359 single base substitution G A downstream_gene_variant SKCA-BR 2 187708359 187708359 single base substitution G A intron_variant SKCA-BR 2 187709571 187709571 single base substitution G A intron_variant SKCA-BR 2 187709794 187709794 single base substitution G A intron_variant SKCA-BR 2 187710239 187710239 single base substitution G A intron_variant SKCA-BR 2 187710323 187710323 single base substitution G A intron_variant SKCA-BR 2 187710518 187710518 single base substitution G A intron_variant SKCA-BR 2 187711237 187711237 single base substitution G A intron_variant SKCA-BR 2 187711462 187711462 single base substitution C T intron_variant SKCA-BR 2 187711650 187711650 single base substitution G A intron_variant SKCA-BR 2 187712445 187712445 single base substitution C T splice_donor_variant SKCA-BR 2 187712828 187712828 single base substitution G A intron_variant SKCA-BR 2 187714805 187714805 single base substitution G A upstream_gene_variant SKCA-BR 2 187715611 187715611 single base substitution A G upstream_gene_variant SKCA-BR 2 187717108 187717108 single base substitution G A upstream_gene_variant SKCA-BR 2 187717554 187717554 single base substitution G A upstream_gene_variant SKCA-BR 2 187717703 187717703 single base substitution C T upstream_gene_variant SKCA-BR 2 187718064 187718064 single base substitution C T upstream_gene_variant SKCA-BR 2 187718116 187718116 single base substitution C T upstream_gene_variant SKCA-BR 2 187718354 187718374 deletion of <=200bp TGTGGCCTCTGGAAGAAGAAA - upstream_gene_variant SKCA-BR 2 187718508 187718508 single base substitution C T upstream_gene_variant SKCM-US 2 187692815 187692815 single base substitution C T missense_variant E600K 1798G>A SKCM-US 2 187692816 187692816 single base substitution C T synonymous_variant G599G 1797G>A SKCM-US 2 187692907 187692907 single base substitution C T missense_variant R569K 1706G>A SKCM-US 2 187692922 187692922 single base substitution C T missense_variant R564K 1691G>A SKCM-US 2 187692974 187692974 single base substitution C T missense_variant G547S 1639G>A SKCM-US 2 187693001 187693001 single base substitution G A missense_variant H538Y 1612C>T SKCM-US 2 187693102 187693102 single base substitution G A missense_variant S504L 1511C>T SKCM-US 2 187693132 187693132 single base substitution G A missense_variant P494L 1481C>T SKCM-US 2 187693133 187693133 single base substitution G A missense_variant P494S 1480C>T SKCM-US 2 187693180 187693180 single base substitution G A missense_variant S478L 1433C>T SKCM-US 2 187693194 187693194 single base substitution G A synonymous_variant I473I 1419C>T SKCM-US 2 187693211 187693211 single base substitution C T missense_variant D468N 1402G>A SKCM-US 2 187693226 187693226 single base substitution C T missense_variant E463K 1387G>A SKCM-US 2 187693262 187693262 single base substitution C T missense_variant E451K 1351G>A SKCM-US 2 187693354 187693354 single base substitution T A missense_variant K420I 1259A>T SKCM-US 2 187693387 187693387 single base substitution G A missense_variant S409L 1226C>T SKCM-US 2 187693413 187693413 single base substitution C T synonymous_variant V400V 1200G>A SKCM-US 2 187693428 187693428 single base substitution C T stop_gained W395* 1185G>A SKCM-US 2 187693433 187693433 single base substitution T G missense_variant T394P 1180A>C SKCM-US 2 187694550 187694550 single base substitution C T synonymous_variant K333K 999G>A SKCM-US 2 187694567 187694567 single base substitution G A missense_variant L328F 982C>T SKCM-US 2 187698678 187698678 single base substitution G A missense_variant R275C 823C>T SKCM-US 2 187698694 187698694 single base substitution G A synonymous_variant S269S 807C>T SKCM-US 2 187698702 187698702 single base substitution G A missense_variant H267Y 799C>T SKCM-US 2 187702044 187702044 single base substitution C T synonymous_variant G244G 732G>A SKCM-US 2 187702047 187702047 single base substitution C T synonymous_variant E243E 729G>A SKCM-US 2 187702055 187702055 single base substitution G A missense_variant P241S 721C>T SKCM-US 2 187702078 187702078 single base substitution G A missense_variant P233L 698C>T SKCM-US 2 187702271 187702271 single base substitution C T missense_variant G169S 505G>A SKCM-US 2 187703701 187703701 single base substitution G A missense_variant P160L 479C>T SKCM-US 2 187703734 187703734 single base substitution A T missense_variant I149N 446T>A SKCM-US 2 187703747 187703747 single base substitution C T missense_variant D145N 433G>A SKCM-US 2 187703815 187703815 single base substitution C T missense_variant G122E 365G>A SKCM-US 2 187703824 187703824 single base substitution G A missense_variant P119L 356C>T SKCM-US 2 187703825 187703825 single base substitution G A missense_variant P119S 355C>T SKCM-US 2 187703837 187703837 single base substitution G A stop_gained R115* 343C>T SKCM-US 2 187709466 187709466 single base substitution G A downstream_gene_variant SKCM-US 2 187709466 187709466 single base substitution G A synonymous_variant F87F 261C>T SKCM-US 2 187712479 187712479 single base substitution G A 3_prime_UTR_variant SKCM-US 2 187712479 187712479 single base substitution G A missense_variant P70L 209C>T SKCM-US 2 187712480 187712480 single base substitution G A 3_prime_UTR_variant SKCM-US 2 187712480 187712480 single base substitution G A missense_variant P70S 208C>T SKCM-US 2 187712504 187712504 single base substitution G A 3_prime_UTR_variant SKCM-US 2 187712504 187712504 single base substitution G A missense_variant H62Y 184C>T SKCM-US 2 187712507 187712507 single base substitution G A 3_prime_UTR_variant SKCM-US 2 187712507 187712507 single base substitution G A missense_variant P61S 181C>T STAD-US 2 187692958 187692958 single base substitution T G missense_variant N552T 1655A>C STAD-US 2 187693166 187693166 single base substitution A C missense_variant L483V 1447T>G STAD-US 2 187693167 187693167 deletion of <=200bp T - frameshift_variant K482 STAD-US 2 187693238 187693238 single base substitution T G missense_variant K459Q 1375A>C STAD-US 2 187693278 187693278 single base substitution A G synonymous_variant P445P 1335T>C STAD-US 2 187693320 187693320 single base substitution T C synonymous_variant L431L 1293A>G STAD-US 2 187693422 187693422 single base substitution A G synonymous_variant N397N 1191T>C STAD-US 2 187698688 187698688 single base substitution C T synonymous_variant T271T 813G>A STAD-US 2 187698689 187698689 single base substitution G A missense_variant T271M 812C>T STAD-US 2 187698698 187698698 single base substitution A C missense_variant L268R 803T>G STAD-US 2 187702109 187702109 single base substitution T C missense_variant K223E 667A>G STAD-US 2 187702135 187702135 single base substitution G C missense_variant S214C 641C>G STAD-US 2 187703885 187703885 single base substitution G T missense_variant L99M 295C>A STAD-US 2 187713711 187713711 single base substitution C T exon_variant STAD-US 2 187713711 187713711 single base substitution C T synonymous_variant P49P 147G>A UCEC-US 2 187692719 187692719 single base substitution G A stop_gained Q632* 1894C>T UCEC-US 2 187693069 187693069 single base substitution G T missense_variant P515H 1544C>A UCEC-US 2 187693137 187693137 single base substitution A C missense_variant H492Q 1476T>G UCEC-US 2 187694533 187694533 single base substitution G T missense_variant A339D 1016C>A UCEC-US 2 187694534 187694534 single base substitution C T missense_variant A339T 1015G>A UCEC-US 2 187702089 187702089 single base substitution G A synonymous_variant H229H 687C>T UCEC-US 2 187702137 187702137 single base substitution G A synonymous_variant N213N 639C>T UCEC-US 2 187702238 187702238 single base substitution A C missense_variant L180V 538T>G UCEC-US 2 187703849 187703849 single base substitution G A missense_variant R111W 331C>T UCEC-US 2 187709485 187709485 single base substitution C T splice_acceptor_variant UCEC-US 2 187712516 187712516 single base substitution G T 3_prime_UTR_variant UCEC-US 2 187712516 187712516 single base substitution G T missense_variant L58I 172C>A UCEC-US 2 187713816 187713816 single base substitution G A exon_variant UCEC-US 2 187713816 187713816 single base substitution G A synonymous_variant H14H 42C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-G3-A7M5-01 COSM4941841 c.884A>T p.Y295F Substitution - Missense 2:186833177-186833177 - TCGA-F4-6856-01 COSM1403954 c.1425A>T p.L475F Substitution - Missense 2:186828461-186828461 - sysucc-1317T COSM5449585 c.945A>G p.Q315Q Substitution - coding silent 2:186829877-186829877 - TCGA-D3-A2JN-06 COSM3575244 c.1480C>T p.P494S Substitution - Missense 2:186828406-186828406 - LUAD-CHTN-MAD06-00668 COSM359608 c.105A>T p.R35R Substitution - coding silent 2:186849026-186849026 - TCGA-G2-A2EC-01 COSM1306217 c.104G>C p.R35P Substitution - Missense 2:186849027-186849027 - TCGA-19-2631 COSM2156422 c.7C>A p.R3S Substitution - Missense 2:186849124-186849124 - TCGA-BW-A5NQ-01 COSM4911812 c.1231A>G p.R411G Substitution - Missense 2:186828655-186828655 - TCGA-BQ-5887-01 COSM3990916 c.1436A>T p.N479I Substitution - Missense 2:186828450-186828450 - TCGA-BR-8361-01 COSM4089569 c.1293A>G p.L431L Substitution - coding silent 2:186828593-186828593 - NOKSI COSM4596090 c.397G>A p.D133N Substitution - Missense 2:186839056-186839056 - LOVO COSM4614200 c.674_675delGA p.R225fs*10 Deletion - Frameshift 2:186837374-186837375 - LUAD-YINHD COSM350526 c.468G>C p.E156D Substitution - Missense 2:186838985-186838985 - TCGA-D3-A5GS-06 COSM3575251 c.1226C>T p.S409L Substitution - Missense 2:186828660-186828660 - TCGA-EE-A2GP-06 COSM3575244 c.1480C>T p.P494S Substitution - Missense 2:186828406-186828406 - PT08_2 COSM3896190 c.1798G>A p.E600K Substitution - Missense 2:186828088-186828088 - S00827 COSM316954 c.1085G>T p.C362F Substitution - Missense 2:186829737-186829737 - TCGA-AR-A24H-01 COSM1482550 c.1260A>T p.K420N Substitution - Missense 2:186828626-186828626 - CSCC-45-T COSM4543233 c.333G>A p.R111R Substitution - coding silent 2:186839120-186839120 - PTC-14C COSM4133335 c.186C>T p.H62H Substitution - coding silent 2:186847775-186847775 - TCGA-DA-A3F8-06 COSM1691674 c.1612C>T p.H538Y Substitution - Missense 2:186828274-186828274 - TCGA-EE-A2GR-06 COSM3575258 c.729G>A p.E243E Substitution - coding silent 2:186837320-186837320 - HCC124T COSM3709262 c.166-8C>T p.? Unknown 2:186847803-186847803 - PDA_094 COSM5003209 c.717G>T p.Q239H Substitution - Missense 2:186837332-186837332 - S01453 COSM316955 c.413A>G p.Q138R Substitution - Missense 2:186839040-186839040 - TCGA-AP-A0LM-01 COSM1013873 c.1476T>G p.H492Q Substitution - Missense 2:186828410-186828410 - TCGA-CH-5792-01 COSM1129400 c.1447T>A p.L483I Substitution - Missense 2:186828439-186828439 - 2492722 COSM5719870 c.699C>T p.P233P Substitution - coding silent 2:186837350-186837350 - AOCS-155-3-5 COSM4139126 c.631T>A p.F211I Substitution - Missense 2:186837418-186837418 - TCGA-66-2759-01 COSM718910 c.1552G>A p.V518I Substitution - Missense 2:186828334-186828334 - 2492723 COSM5719870 c.699C>T p.P233P Substitution - coding silent 2:186837350-186837350 - RK260_C01 COSM278437 c.771A>G p.L257L Substitution - coding silent 2:186834003-186834003 - TCGA-AA-A00N-01 COSM278437 c.771A>G p.L257L Substitution - coding silent 2:186834003-186834003 - pfg019T COSM1641752 c.1724A>T p.E575V Substitution - Missense 2:186828162-186828162 - 01-P1216 COSM4583017 c.365G>T p.G122V Substitution - Missense 2:186839088-186839088 - 060T COSM1730053 c.1644T>A p.C548* Substitution - Nonsense 2:186828242-186828242 - LAU50_2 COSM233852 c.1693G>A p.E565K Substitution - Missense 2:186828193-186828193 - TCGA-EB-A431-01 COSM229458 c.823C>T p.R275C Substitution - Missense 2:186833951-186833951 - Pat_76_B COSM5861314 c.730G>A p.G244R Substitution - Missense 2:186837319-186837319 - YUPTER COSM5395765 c.1725G>A p.E575E Substitution - coding silent 2:186828161-186828161 - YULAD COSM5395766 c.910G>A p.E304K Substitution - Missense 2:186833151-186833151 - Pat_66_A COSM5861313 c.851C>T p.S284L Substitution - Missense 2:186833210-186833210 - 37M COSM5584321 c.1559A>T p.K520M Substitution - Missense 2:186828327-186828327 - HCT8 COSM1669586 c.1525C>T p.P509S Substitution - Missense 2:186828361-186828361 - TCGA-DA-A1I0-06 COSM3575252 c.1200G>A p.V400V Substitution - coding silent 2:186828686-186828686 - HCC24 COSM3709261 c.794G>T p.C265F Substitution - Missense 2:186833980-186833980 - TCGA-D9-A6EC-06 COSM4406089 c.1185G>A p.W395* Substitution - Nonsense 2:186828701-186828701 - 18 COSM5744753 c.749C>T p.T250I Substitution - Missense 2:186834025-186834025 - LUAD-D01603 COSM337773 c.679G>T p.D227Y Substitution - Missense 2:186837370-186837370 - HCC75T COSM1614040 c.787G>T p.D263Y Substitution - Missense 2:186833987-186833987 - PDA_078 COSM5002345 c.187G>A p.V63I Substitution - Missense 2:186847774-186847774 - TCGA-ER-A19A-06 COSM3575262 c.479C>T p.P160L Substitution - Missense 2:186838974-186838974 - YUPROST COSM1691679 c.220G>A p.E74K Substitution - Missense 2:186847741-186847741 - S01453 COSM316955 c.413A>G p.Q138R Substitution - Missense 2:186839040-186839040 - TCGA-DR-A0ZM-01 COSM461226 c.1193C>T p.S398L Substitution - Missense 2:186828693-186828693 - TCGA-BR-8361-01 COSM209126 c.147G>A p.P49P Substitution - coding silent 2:186848984-186848984 - 1409_T COSM3962074 c.87C>G p.S29R Substitution - Missense 2:186849044-186849044 - TCGA-BF-A1Q0-01 COSM3575240 c.1706G>A p.R569K Substitution - Missense 2:186828180-186828180 - CSCC-31-T COSM4562553 c.931G>A p.E311K Substitution - Missense 2:186833130-186833130 - PCSI_0015_Pa_P_526 COSM4963239 c.1490T>G p.L497R Substitution - Missense 2:186828396-186828396 - TCGA-EE-A2MS-06 COSM3575249 c.1351G>A p.E451K Substitution - Missense 2:186828535-186828535 - TCGA-EK-A2RJ-01 COSM4832147 c.1182T>G p.T394T Substitution - coding silent 2:186828704-186828704 - 37M COSM5584322 c.1720C>T p.P574S Substitution - Missense 2:186828166-186828166 - TCGA-18-3412-01 COSM718904 c.275A>T p.N92I Substitution - Missense 2:186844725-186844725 - PTC-14C COSM4133333 c.1674T>C p.T558T Substitution - coding silent 2:186828212-186828212 - ESO-1748 COSM1272022 c.1743C>T p.V581V Substitution - coding silent 2:186828143-186828143 - C086 COSM1403962 c.376G>A p.E126K Substitution - Missense 2:186839077-186839077 - T3090 COSM4745455 c.1694A>C p.E565A Substitution - Missense 2:186828192-186828192 - TCGA-DH-5144-01 COSM1165630 c.210G>A p.P70P Substitution - coding silent 2:186847751-186847751 - PTC-14C COSM4133334 c.586C>A p.L196M Substitution - Missense 2:186837463-186837463 - TCGA-EE-A17X-06 COSM3575257 c.732G>A p.G244G Substitution - coding silent 2:186837317-186837317 - TCGA-AM-5821-01 COSM3757844 c.1509G>A p.V503V Substitution - coding silent 2:186828377-186828377 - TCGA-AP-A0LM-01 COSM1013876 c.687C>T p.H229H Substitution - coding silent 2:186837362-186837362 - TCGA-DD-A1ED-01 COSM4920285 c.1507G>T p.V503L Substitution - Missense 2:186828379-186828379 - S00827 COSM316954 c.1085G>T p.C362F Substitution - Missense 2:186829737-186829737 - TCGA-EE-A3J5-06 COSM3575271 c.181C>T p.P61S Substitution - Missense 2:186847780-186847780 - LAU50_1 COSM233852 c.1693G>A p.E565K Substitution - Missense 2:186828193-186828193 - TCGA-C5-A1BM-01 COSM4826484 c.1336C>G p.Q446E Substitution - Missense 2:186828550-186828550 - 2521259 COSM3575244 c.1480C>T p.P494S Substitution - Missense 2:186828406-186828406 - PR-2858 COSM248671 c.8G>T p.R3L Substitution - Missense 2:186849123-186849123 - Pat_65_A COSM461226 c.1193C>T p.S398L Substitution - Missense 2:186828693-186828693 - YUMUL COSM5395764 c.1774A>G p.K592E Substitution - Missense 2:186828112-186828112 - sysucc-1510T COSM3757844 c.1509G>A p.V503V Substitution - coding silent 2:186828377-186828377 - LUAD-YINHD COSM350525 c.813G>T p.T271T Substitution - coding silent 2:186833961-186833961 - HCC90T COSM1614038 c.1620T>A p.S540R Substitution - Missense 2:186828266-186828266 - 990515 COSM1582505 c.945A>C p.Q315H Substitution - Missense 2:186829877-186829877 - YUGATOR COSM1403962 c.376G>A p.E126K Substitution - Missense 2:186839077-186839077 - S00356 COSM318344 c.48C>A p.S16R Substitution - Missense 2:186849083-186849083 - TCGA-EE-A2A5-06 COSM3575246 c.1419C>T p.I473I Substitution - coding silent 2:186828467-186828467 - TCGA-EE-A2MD-06 COSM3575247 c.1402G>A p.D468N Substitution - Missense 2:186828484-186828484 - HCT-15 COSM1669586 c.1525C>T p.P509S Substitution - Missense 2:186828361-186828361 - TCGA-ER-A2NH-06 COSM3575265 c.365G>A p.G122E Substitution - Missense 2:186839088-186839088 - TCGA-G3-A7M7-01 COSM4929958 c.99C>G p.L33L Substitution - coding silent 2:186849032-186849032 - TCGA-CW-5591-01 COSM476648 c.1545T>G p.P515P Substitution - coding silent 2:186828341-186828341 - YURAY COSM3575257 c.732G>A p.G244G Substitution - coding silent 2:186837317-186837317 - ME045T COSM229458 c.823C>T p.R275C Substitution - Missense 2:186833951-186833951 - TCGA-G4-6320-01 COSM1129400 c.1447T>A p.L483I Substitution - Missense 2:186828439-186828439 - TCGA-A5-A0G9-01 COSM1013879 c.340C>T p.H114Y Substitution - Missense 2:186839113-186839113 - TCGA-D3-A3MR-06 COSM3575256 c.799C>T p.H267Y Substitution - Missense 2:186833975-186833975 - TCGA-A5-A0GP-01 COSM1013877 c.639C>T p.N213N Substitution - coding silent 2:186837410-186837410 - TCGA-EE-A2GR-06 COSM3575241 c.1691G>A p.R564K Substitution - Missense 2:186828195-186828195 - LUAD-S01302 COSM395947 c.424G>T p.D142Y Substitution - Missense 2:186839029-186839029 - TCGA-AM-5821-01 COSM3757846 c.905T>C p.I302T Substitution - Missense 2:186833156-186833156 - TCGA-AZ-6598-01 COSM572519 c.810C>T p.H270H Substitution - coding silent 2:186833964-186833964 - YUWAND COSM1691675 c.1603G>A p.G535R Substitution - Missense 2:186828283-186828283 - CHC1207T COSM4800090 c.1797G>T p.G599G Substitution - coding silent 2:186828089-186828089 - BD124T COSM3728853 c.1096-5delT p.? Unknown 2:186828795-186828795 - LUAD-RT-S01700 COSM233852 c.1693G>A p.E565K Substitution - Missense 2:186828193-186828193 - 2492720 COSM5719870 c.699C>T p.P233P Substitution - coding silent 2:186837350-186837350 - S02279 COSM5683699 c.439T>C p.C147R Substitution - Missense 2:186839014-186839014 - TCGA-FG-7643-01 COSM3971919 c.824G>A p.R275H Substitution - Missense 2:186833950-186833950 - TCGA-DA-A1IC-06 COSM229458 c.823C>T p.R275C Substitution - Missense 2:186833951-186833951 - CLL143 COSM1291391 c.93C>A p.I31I Substitution - coding silent 2:186849038-186849038 - TCGA-61-1740-01 COSM1326586 c.915G>C p.K305N Substitution - Missense 2:186833146-186833146 - CSCC-44-T COSM4528882 c.156G>A p.M52I Substitution - Missense 2:186848975-186848975 - 6115234 COSM5558667 c.475C>A p.L159I Substitution - Missense 2:186838978-186838978 - KPOPBR-40-T COSM5965923 c.678G>C p.L226L Substitution - coding silent 2:186837371-186837371 - TCGA-AA-3663-01 COSM1403964 c.39A>C p.R13S Substitution - Missense 2:186849092-186849092 - LN229 COSM2711696 c.979C>A p.P327T Substitution - Missense 2:186829843-186829843 - 53M COSM5595645 c.1546C>T p.P516S Substitution - Missense 2:186828340-186828340 - cSCCP6 COSM136292 c.331C>T p.R111W Substitution - Missense 2:186839122-186839122 - TCGA-CJ-4640-01 COSM1136544 c.695T>C p.I232T Substitution - Missense 2:186837354-186837354 - TCGA-GN-A266-06 COSM3575245 c.1433C>T p.S478L Substitution - Missense 2:186828453-186828453 - Pat_76_A COSM5861315 c.499G>A p.G167S Substitution - Missense 2:186837550-186837550 - HCC058T COSM5805007 c.243-1G>T p.? Unknown 2:186844758-186844758 - TCGA-22-5480-01 COSM718909 c.1267G>T p.D423Y Substitution - Missense 2:186828619-186828619 - CHC1207T COSM4800090 c.1797G>T p.G599G Substitution - coding silent 2:186828089-186828089 - TCGA-BT-A20P-01 COSM418957 c.982C>A p.L328I Substitution - Missense 2:186829840-186829840 - 18T COSM108086 c.607C>T p.P203S Substitution - Missense 2:186837442-186837442 - PR-04-639 COSM248672 c.375C>T p.D125D Substitution - coding silent 2:186839078-186839078 - TCGA-FU-A3HZ-01 COSM4841061 c.1260A>C p.K420N Substitution - Missense 2:186828626-186828626 - 35M COSM5583220 c.688C>T p.L230F Substitution - Missense 2:186837361-186837361 - TCGA-06-0879-01 COSM2152314 c.1784G>C p.S595T Substitution - Missense 2:186828102-186828102 - C086 COSM5542524 c.200C>T p.S67F Substitution - Missense 2:186847761-186847761 - C086 COSM5542525 c.494+1G>A p.? Unknown 2:186838958-186838958 - PT35 COSM3575259 c.721C>T p.P241S Substitution - Missense 2:186837328-186837328 - TCGA-AX-A0J0-01 COSM136292 c.331C>T p.R111W Substitution - Missense 2:186839122-186839122 - TCGA-AM-5821-01 COSM3757840 c.1705A>C p.R569R Substitution - coding silent 2:186828181-186828181 - 16 COSM1403962 c.376G>A p.E126K Substitution - Missense 2:186839077-186839077 - TCGA-D9-A6EA-06 COSM4398390 c.1511C>T p.S504L Substitution - Missense 2:186828375-186828375 - TCGA-EE-A2GN-06 COSM3575264 c.433G>A p.D145N Substitution - Missense 2:186839020-186839020 - HX28T COSM3709261 c.794G>T p.C265F Substitution - Missense 2:186833980-186833980 - TCGA-BR-8680-01 COSM4089570 c.1191T>C p.N397N Substitution - coding silent 2:186828695-186828695 - sysucc-1370T COSM5471374 c.1654A>G p.N552D Substitution - Missense 2:186828232-186828232 - TCGA-EE-A3AE-06 COSM3575270 c.184C>T p.H62Y Substitution - Missense 2:186847777-186847777 - TCGA-D3-A3C7-06 COSM3575260 c.698C>T p.P233L Substitution - Missense 2:186837351-186837351 - YUKAT COSM5395767 c.457C>T p.L153L Substitution - coding silent 2:186838996-186838996 - TCGA-60-2726-01 COSM718906 c.664G>C p.E222Q Substitution - Missense 2:186837385-186837385 - TCGA-D1-A103-01 COSM1013882 c.42C>T p.H14H Substitution - coding silent 2:186849089-186849089 - 9583_PT COSM5755929 c.1429A>C p.N477H Substitution - Missense 2:186828457-186828457 - TCGA-BR-8485-01 COSM4089565 c.1655A>C p.N552T Substitution - Missense 2:186828231-186828231 - TCGA-B7-5818-01 COSM4089571 c.803T>G p.L268R Substitution - Missense 2:186833971-186833971 - TCGA-DB-5275-01 COSM3971920 c.633C>T p.F211F Substitution - coding silent 2:186837416-186837416 - TCGA-D7-6818-01 COSM4089566 c.1447T>G p.L483V Substitution - Missense 2:186828439-186828439 - T2197 COSM4745456 c.335G>A p.G112E Substitution - Missense 2:186839118-186839118 - TCGA-AX-A05Z-01 COSM1013878 c.538T>G p.L180V Substitution - Missense 2:186837511-186837511 - PT36 COSM229458 c.823C>T p.R275C Substitution - Missense 2:186833951-186833951 - TCGA-AM-5821-01 COSM3757843 c.1569G>A p.V523V Substitution - coding silent 2:186828317-186828317 - BZ24 COSM5758680 c.1664T>A p.L555Q Substitution - Missense 2:186828222-186828222 - TCGA-D3-A1QA-06 COSM3575254 c.999G>A p.K333K Substitution - coding silent 2:186829823-186829823 - TCGA-EB-A4P0-01 COSM3575267 c.261C>T p.F87F Substitution - coding silent 2:186844739-186844739 - HCT8 COSM2711690 c.1302A>C p.K434N Substitution - Missense 2:186828584-186828584 - S00356 COSM318344 c.48C>A p.S16R Substitution - Missense 2:186849083-186849083 - HCC028T COSM5807787 c.1033C>G p.L345V Substitution - Missense 2:186829789-186829789 - LUAD-NYU408 COSM374382 c.1556A>G p.H519R Substitution - Missense 2:186828330-186828330 - 8057643 COSM4138312 c.684A>T p.K228N Substitution - Missense 2:186837365-186837365 - TCGA-D1-A16X-01 COSM1013871 c.1894C>T p.Q632* Substitution - Nonsense 2:186827992-186827992 - TCGA-06-0132-01 COSM3407402 c.1311A>G p.R437R Substitution - coding silent 2:186828575-186828575 - MO_1232 COSM5568656 c.1862G>T p.S621I Substitution - Missense 2:186828024-186828024 - YUGAFFE COSM1691674 c.1612C>T p.H538Y Substitution - Missense 2:186828274-186828274 - TCGA-D1-A17Q-01 COSM1013881 c.172C>A p.L58I Substitution - Missense 2:186847789-186847789 - PT49 COSM5934687 c.1889G>A p.G630E Substitution - Missense 2:186827997-186827997 - OSCC-GB_00610111 COSM4886822 c.138G>T p.E46D Substitution - Missense 2:186848993-186848993 - TCGA-AP-A0LM-01 COSM1013872 c.1544C>A p.P515H Substitution - Missense 2:186828342-186828342 - TCGA-FS-A4F0-06 COSM3575269 c.208C>T p.P70S Substitution - Missense 2:186847753-186847753 - TCGA-FW-A3R5-06 COSM3896190 c.1798G>A p.E600K Substitution - Missense 2:186828088-186828088 - DLD1 COSM1669586 c.1525C>T p.P509S Substitution - Missense 2:186828361-186828361 - CHC1040T COSM4799610 c.1840T>A p.S614T Substitution - Missense 2:186828046-186828046 - PD6410a COSM4089573 c.641C>G p.S214C Substitution - Missense 2:186837408-186837408 - TCGA-CA-6718-01 COSM1403962 c.376G>A p.E126K Substitution - Missense 2:186839077-186839077 - PT26 COSM5905209 c.492C>T p.C164C Substitution - coding silent 2:186838961-186838961 - OSCC-GB_00800111 COSM4887902 c.139G>T p.E47* Substitution - Nonsense 2:186848992-186848992 - TCGA-GN-A265-06 COSM3575242 c.1639G>A p.G547S Substitution - Missense 2:186828247-186828247 - 587382 COSM1234834 c.243-1G>C p.? Unknown 2:186844758-186844758 - CHC1747T COSM4788162 c.1754C>A p.T585K Substitution - Missense 2:186828132-186828132 - TCGA-13-1409-01 COSM79120 c.142G>T p.E48* Substitution - Nonsense 2:186848989-186848989 - TCGA-EE-A2MS-06 COSM3575248 c.1387G>A p.E463K Substitution - Missense 2:186828499-186828499 - ME009T COSM222737 c.644G>A p.S215N Substitution - Missense 2:186837405-186837405 - Pat_76_A COSM5861314 c.730G>A p.G244R Substitution - Missense 2:186837319-186837319 - 46M COSM3575260 c.698C>T p.P233L Substitution - Missense 2:186837351-186837351 - TCGA-EQ-8122-01 COSM4089573 c.641C>G p.S214C Substitution - Missense 2:186837408-186837408 - TCGA-04-1356-01 COSM73509 c.1637A>G p.K546R Substitution - Missense 2:186828249-186828249 - YUPADI COSM229458 c.823C>T p.R275C Substitution - Missense 2:186833951-186833951 - TCGA-BS-A0UF-01 COSM1013874 c.1016C>A p.A339D Substitution - Missense 2:186829806-186829806 - TCGA-D9-A6EC-06 COSM4404696 c.356C>T p.P119L Substitution - Missense 2:186839097-186839097 - 169 COSM3728853 c.1096-5delT p.? Unknown 2:186828795-186828795 - TCGA-EE-A180-06 COSM1530250 c.343C>T p.R115* Substitution - Nonsense 2:186839110-186839110 - TCGA-AP-A059-01 COSM1013875 c.1015G>A p.A339T Substitution - Missense 2:186829807-186829807 - 060T COSM1730052 c.1648T>G p.C550G Substitution - Missense 2:186828238-186828238 - TCGA-A7-A0CJ-01 COSM441972 c.1211C>T p.A404V Substitution - Missense 2:186828675-186828675 - YULAD COSM5395768 c.357C>T p.P119P Substitution - coding silent 2:186839096-186839096 - LS411 COSM2711714 c.406A>G p.I136V Substitution - Missense 2:186839047-186839047 - HCT15 COSM1669586 c.1525C>T p.P509S Substitution - Missense 2:186828361-186828361 - 46M COSM229458 c.823C>T p.R275C Substitution - Missense 2:186833951-186833951 - sysucc-1317T COSM5449584 c.1486T>C p.Y496H Substitution - Missense 2:186828400-186828400 - CSCC-31-T COSM4450219 c.495-2A>C p.? Unknown 2:186837556-186837556 - CRC-06T COSM5456911 c.337A>G p.I113V Substitution - Missense 2:186839116-186839116 - 2521243 COSM5886233 c.1489C>T p.L497F Substitution - Missense 2:186828397-186828397 - HCC124 COSM3709262 c.166-8C>T p.? Unknown 2:186847803-186847803 - TCGA-AA-A00K-01 COSM298547 c.33G>A p.R11R Substitution - coding silent 2:186849098-186849098 - TCGA-EE-A3AB-06 COSM3575239 c.1797G>A p.G599G Substitution - coding silent 2:186828089-186828089 - TCGA-F4-6856-01 COSM1403953 c.1429A>T p.N477Y Substitution - Missense 2:186828457-186828457 - CHC1747T COSM4788162 c.1754C>A p.T585K Substitution - Missense 2:186828132-186828132 - PT45 COSM5927270 c.1439C>T p.S480L Substitution - Missense 2:186828447-186828447 - SE1 COSM1165630 c.210G>A p.P70P Substitution - coding silent 2:186847751-186847751 - RK015_C COSM1631657 c.1054C>A p.H352N Substitution - Missense 2:186829768-186829768 - HCC90 COSM1614038 c.1620T>A p.S540R Substitution - Missense 2:186828266-186828266 - TCGA-19-2631-01 COSM2156422 c.7C>A p.R3S Substitution - Missense 2:186849124-186849124 - TCGA-ER-A19F-06 COSM3575259 c.721C>T p.P241S Substitution - Missense 2:186837328-186837328 - TCGA-66-2800-01 COSM718908 c.950A>G p.Y317C Substitution - Missense 2:186829872-186829872 - TCGA-AZ-6601-01 COSM1403959 c.885C>T p.Y295Y Substitution - coding silent 2:186833176-186833176 - TCGA-AM-5821-01 COSM3757842 c.1610T>A p.F537Y Substitution - Missense 2:186828276-186828276 - TCGA-FW-A3R5-06 COSM3896191 c.982C>T p.L328F Substitution - Missense 2:186829840-186829840 - ccRCC-9 COSM1665314 c.332G>A p.R111Q Substitution - Missense 2:186839121-186839121 - TCGA-EE-A2GR-06 COSM229458 c.823C>T p.R275C Substitution - Missense 2:186833951-186833951 - TCGA-BR-8487-01 COSM4089574 c.295C>A p.L99M Substitution - Missense 2:186839158-186839158 - 49M COSM5594134 c.628G>A p.E210K Substitution - Missense 2:186837421-186837421 - TCGA-EE-A29M-06 COSM3575243 c.1481C>T p.P494L Substitution - Missense 2:186828405-186828405 - TCGA-EE-A2GC-06 COSM3575268 c.209C>T p.P70L Substitution - Missense 2:186847752-186847752 - YUSIPU COSM2711685 c.1518G>A p.G506G Substitution - coding silent 2:186828368-186828368 - T3056 COSM1530250 c.343C>T p.R115* Substitution - Nonsense 2:186839110-186839110 - WSU-HN13 COSM4601572 c.1676C>T p.P559L Substitution - Missense 2:186828210-186828210 - TCGA-EE-A3J5-06 COSM3575255 c.807C>T p.S269S Substitution - coding silent 2:186833967-186833967 - TCGA-F5-6814-01 COSM3425862 c.1360A>G p.T454A Substitution - Missense 2:186828526-186828526 - P05-3859 COSM229458 c.823C>T p.R275C Substitution - Missense 2:186833951-186833951 - Patient_5 COSM5414517 c.1731C>T p.F577F Substitution - coding silent 2:186828155-186828155 - TCGA-D3-A3ML-06 COSM3575250 c.1259A>T p.K420I Substitution - Missense 2:186828627-186828627 - TCGA-FP-A4BE-01 COSM2711702 c.812C>T p.T271M Substitution - Missense 2:186833962-186833962 - TCGA-BR-6452-01 COSM4089568 c.1335T>C p.P445P Substitution - coding silent 2:186828551-186828551 - Pat_24_A COSM2711676 c.1808G>A p.R603Q Substitution - Missense 2:186828078-186828078 - BD236T COSM5518359 c.952A>G p.T318A Substitution - Missense 2:186829870-186829870 - CHC1040T COSM4799610 c.1840T>A p.S614T Substitution - Missense 2:186828046-186828046 - RK308_C01 COSM3743470 c.643A>G p.S215G Substitution - Missense 2:186837406-186837406 - CSCC-44-T COSM4471494 c.1721C>T p.P574L Substitution - Missense 2:186828165-186828165 - S02274 COSM5682475 c.984C>G p.L328L Substitution - coding silent 2:186829838-186829838 - YUMER COSM1691677 c.344G>A p.R115Q Substitution - Missense 2:186839109-186839109 - TCGA-AD-6895-01 COSM1403958 c.998A>C p.K333T Substitution - Missense 2:186829824-186829824 - TCGA-B7-5816-01 COSM4089572 c.667A>G p.K223E Substitution - Missense 2:186837382-186837382 - RK015_C01 COSM1631657 c.1054C>A p.H352N Substitution - Missense 2:186829768-186829768 - TCGA-DA-A1I7-06 COSM3575253 c.1180A>C p.T394P Substitution - Missense 2:186828706-186828706 - TCGA-18-3421-01 COSM718903 c.186C>G p.H62Q Substitution - Missense 2:186847775-186847775 - TCGA-06-0879 COSM2152314 c.1784G>C p.S595T Substitution - Missense 2:186828102-186828102 - TCGA-D3-A51T-06 COSM3575261 c.505G>A p.G169S Substitution - Missense 2:186837544-186837544 - HCC066T COSM5821211 c.1715T>A p.L572* Substitution - Nonsense 2:186828171-186828171 - CSCC-55-T COSM4470670 c.1675C>T p.P559S Substitution - Missense 2:186828211-186828211 - TCGA-BR-8589-01 COSM4089567 c.1375A>C p.K459Q Substitution - Missense 2:186828511-186828511 - TCGA-D8-A1JA-01 COSM3838118 c.414G>A p.Q138Q Substitution - coding silent 2:186839039-186839039 - MEL-Ma-Mel-79 COSM1167761 c.1003_1017del15 p.S335_A339delSKLLA Deletion - In frame 2:186829805-186829819 - 3N42-VS-3T42 COSM4981943 c.1424T>A p.L475* Substitution - Nonsense 2:186828462-186828462 - TCGA-AM-5821-01 COSM3757845 c.1458T>A p.D486E Substitution - Missense 2:186828428-186828428 - TCGA-AP-A059-01 COSM1013880 c.243-1G>A p.? Unknown 2:186844758-186844758 - ESO-105 COSM1272021 c.671A>C p.E224A Substitution - Missense 2:186837378-186837378 - HCC75 COSM1614040 c.787G>T p.D263Y Substitution - Missense 2:186833987-186833987 - AOCS-055-1-7 COSM4139125 c.1668G>C p.K556N Substitution - Missense 2:186828218-186828218 - TCGA-GN-A263-01 COSM3575266 c.355C>T p.P119S Substitution - Missense 2:186839098-186839098 - TCGA-AM-5821-01 COSM3757841 c.1630A>G p.M544V Substitution - Missense 2:186828256-186828256 - YUWAND COSM1691678 c.272G>A p.R91K Substitution - Missense 2:186844728-186844728 - pfg062T COSM4764186 c.71A>T p.D24V Substitution - Missense 2:186849060-186849060 - TCGA-EE-A2MS-06 COSM3575264 c.433G>A p.D145N Substitution - Missense 2:186839020-186839020 - TCGA-D3-A2JP-06 COSM3575263 c.446T>A p.I149N Substitution - Missense 2:186839007-186839007 - TCGA-AG-3892-01 COSM258538 c.1413C>A p.C471* Substitution - Nonsense 2:186828473-186828473 - CSCC-49-T COSM4558248 c.75G>A p.Q25Q Substitution - coding silent 2:186849056-186849056 - BD174T COSM5521323 c.1802T>G p.I601S Substitution - Missense 2:186828084-186828084 - HCT15 COSM2711690 c.1302A>C p.K434N Substitution - Missense 2:186828584-186828584 - YULAN COSM1691676 c.443C>T p.S148F Substitution - Missense 2:186839010-186839010 - HCC24T COSM3709261 c.794G>T p.C265F Substitution - Missense 2:186833980-186833980 - TCGA-AC-A3OD-01 COSM3838119 c.287C>A p.A96D Substitution - Missense 2:186839166-186839166 - 2492721 COSM5719870 c.699C>T p.P233P Substitution - coding silent 2:186837350-186837350 - TCGA-BR-4292-01 COSM476649 c.813G>A p.T271T Substitution - coding silent 2:186833961-186833961 - PT08_1 COSM3896190 c.1798G>A p.E600K Substitution - Missense 2:186828088-186828088 - HCC54T COSM1614039 c.973T>C p.S325P Substitution - Missense 2:186829849-186829849 - YURED COSM229458 c.823C>T p.R275C Substitution - Missense 2:186833951-186833951 - Pat_76_B COSM5861315 c.499G>A p.G167S Substitution - Missense 2:186837550-186837550 - TCGA-B0-5399-01 COSM476649 c.813G>A p.T271T Substitution - coding silent 2:186833961-186833961 - TCGA-FS-A1ZE-06 COSM3575269 c.208C>T p.P70S Substitution - Missense 2:186847753-186847753 - DLD1 COSM2711690 c.1302A>C p.K434N Substitution - Missense 2:186828584-186828584 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.375054 2q32.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L268R c.803T>G 2 187698698 STAD A C Missense p.L483V c.1447T>G 2 187693166 STAD A C Synonymous p.P515P c.1545T>G 2 187693068 RCCC AGCAAGCAGCTTACT - InFrameDeletion p.S335_A339delSKLLA c.1003_1017delAGTAAGCTGCTTGCT 2 187694532 CM A G Missense p.L192S c.575T>C 2 187702201 BRCA A G Missense p.Y247H c.739T>C 2 187702037 LUAD A T Missense p.I149N c.446T>A 2 187703734 CM A T Missense p.L483I c.1447T>A 2 187693166 PRAD C A Missense p.C362F c.1085G>T 2 187694464 SCLC C A Missense p.D423Y c.1267G>T 2 187693346 LUSC C A Missense p.E565D c.1695G>T 2 187692918 LUAD C A Missense p.K333N c.999G>T 2 187694550 CM C A Missense p.M598I c.1794G>T 2 187692819 LUAD C A Missense p.R324I c.971G>T 2 187694578 LUAD C A Missense p.V316F c.946G>T 2 187694603 LUAD C A Nonsense p.E48* c.142G>T 2 187713716 OV - C Frameshift p.I113Dfs*13 c.336dupG 2 187703844 HNSC C G Missense p.E200Q c.598G>C 2 187702178 HNSC C G Missense p.E222Q c.664G>C 2 187702112 LUSC C G Missense p.R35P c.104G>C 2 187713754 BLCA C G Missense p.S595T c.1784G>C 2 187692829 GBM CG TT Missense p.P70Q c.209_210delinsAA 2 187712478 LUAD C - IntronicDeletion . c.284-1295delG 2 187705191 CM C T 3-UTRSNV . c.1899+19G>A 2 187692695 CM C T Missense p.D145N c.433G>A 2 187703747 CM C T Missense p.D468N c.1402G>A 2 187693211 CM C T Missense p.E140K c.418G>A 2 187703762 CM C T Missense p.E210K c.628G>A 2 187702148 CM C T Missense p.E451K c.1351G>A 2 187693262 CM C T Missense p.E463K c.1387G>A 2 187693226 CM C T Missense p.G122E c.365G>A 2 187703815 CM C T Missense p.G386R c.1156G>A 2 187693457 LUAD C T Missense p.G547S c.1639G>A 2 187692974 CM C T Missense p.R275H c.824G>A 2 187698677 LGG C T Missense p.R564K c.1691G>A 2 187692922 CM C T Missense p.R569K c.1706G>A 2 187692907 CM C T Missense p.S215N c.644G>A 2 187702132 CM C T Missense p.V518I c.1552G>A 2 187693061 LUSC C T Nonsense p.W374* c.1122G>A 2 187693491 CM C T Synonymous p.E243E c.729G>A 2 187702047 CM C T Synonymous p.G244G c.732G>A 2 187702044 CM C T Synonymous p.G506G c.1518G>A 2 187693095 CM C T Synonymous p.G599G c.1797G>A 2 187692816 CM C T Synonymous p.K333K c.999G>A 2 187694550 CM C T Synonymous p.P70P c.210G>A 2 187712478 LGG C T Synonymous p.P70P c.210G>A 2 187712478 STAD C T Synonymous p.R11R c.33G>A 2 187713825 COREAD C T Synonymous p.T271T c.813G>A 2 187698688 STAD C T Synonymous p.V400V c.1200G>A 2 187693413 CM G A Missense p.A404V c.1211C>T 2 187693402 BRCA G A Missense p.H267Y c.799C>T 2 187698702 CM G A Missense p.H352Y c.1054C>T 2 187694495 CM G A Missense p.H538Y c.1612C>T 2 187693001 CM G A Missense p.H62Y c.184C>T 2 187712504 CM G A Missense p.L33F c.97C>T 2 187713761 CM G A Missense p.P119S c.355C>T 2 187703825 CM G A Missense p.P160L c.479C>T 2 187703701 CM G A Missense p.P160S c.478C>T 2 187703702 CM G A Missense p.P233L c.698C>T 2 187702078 CM G A Missense p.P494L c.1481C>T 2 187693132 CM G A Missense p.P494S c.1480C>T 2 187693133 CM G A Missense p.P509L c.1526C>T 2 187693087 BRCA G A Missense p.P61S c.181C>T 2 187712507 CM G A Missense p.P70L c.209C>T 2 187712479 CM G A Missense p.P70L c.209C>T 2 187712479 HNSC G A Missense p.P70S c.208C>T 2 187712480 CM G A Missense p.R275C c.823C>T 2 187698678 CM G A Missense p.T273I c.818C>T 2 187698683 HNSC G A Nonsense p.R115* c.343C>T 2 187703837 CM G A Synonymous p.D125D c.375C>T 2 187703805 BRCA G A Synonymous p.F211F c.633C>T 2 187702143 LGG G A Synonymous p.H270H c.810C>T 2 187698691 LUAD G A Synonymous p.I473I c.1419C>T 2 187693194 CM G A Synonymous p.N213N c.639C>T 2 187702137 UCEC G A Synonymous p.S269S c.807C>T 2 187698694 CM G A Synonymous p.V581V c.1743C>T 2 187692870 ESCA G C Missense p.H62Q c.186C>G 2 187712502 LUSC G C Missense p.T250S c.749C>G 2 187698752 LUAD - GGG InFrameInsertion p.P559dupP c.1676_1677insCCC 2 187692937 RCCC G T Missense p.A220E c.659C>A 2 187702117 HNSC G T Missense p.D125E c.375C>A 2 187703805 LUAD G T Missense p.H352N c.1054C>A 2 187694495 HC G T Missense p.H62N c.184C>A 2 187712504 LUAD G T Missense p.L328I c.982C>A 2 187694567 BLCA G T Missense p.P121Q c.362C>A 2 187703818 LUAD G T Missense p.P121T c.361C>A 2 187703819 HNSC G T Missense p.P501H c.1502C>A 2 187693111 LUAD G T Missense p.Q25K c.73C>A 2 187713785 LUAD G T Missense p.R3S c.7C>A 2 187713851 GBM G T Missense p.S16R c.48C>A 2 187713810 SCLC G T Missense p.S214Y c.641C>A 2 187702135 LUAD G T Synonymous p.I31I c.93C>A 2 187713765 CLL T A Missense p.E575V c.1724A>T 2 187692889 STAD T A Missense p.K420I c.1259A>T 2 187693354 CM T A Missense p.K420N c.1260A>T 2 187693353 BRCA T A Missense p.N92I c.275A>T 2 187709452 LUSC T A Missense p.Q315L c.944A>T 2 187694605 LUAD T A Nonsense p.K216* c.646A>T 2 187702130 MM T C Missense p.K223E c.667A>G 2 187702109 STAD T C Missense p.K546R c.1637A>G 2 187692976 OV T C Missense p.N582S c.1745A>G 2 187692868 CM T C Missense p.Q138R c.413A>G 2 187703767 SCLC T C Missense p.Y317C c.950A>G 2 187694599 LUSC T C Synonymous p.R437R c.1311A>G 2 187693302 GBM T G IntronicSNV . c.165+46A>C 2 187713647 BRCA T G Missense p.E224A c.671A>C 2 187702105 ESCA T G Missense p.R411S c.1233A>C 2 187693380 LUAD T G Missense p.T394P c.1180A>C 2 187693433 CM - T IntronicInsertion . c.284-151dupA 2 187704047 ESCA