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 11 102195686 102195686 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr11:102195686G>C c.446G>C c.(445-447)aGa>aCa p.R149T BLCA 11 102195711 102195711 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr11:102195711G>C c.471G>C c.(469-471)ttG>ttC p.L157F BLCA 11 102207769 102207769 + Missense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 g.chr11:102207769C>G c.1751C>G c.(1750-1752)tCt>tGt p.S584C BRCA 11 102195805 102195805 + Missense_Mutation SNP C C G TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 g.chr11:102195805C>G c.565C>G c.(565-567)Ctg>Gtg p.L189V BRCA 11 102206908 102206909 + Frame_Shift_Del DEL CT CT - TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 g.chr11:102206908_102206909delCT c.1536_1537delCT c.(1534-1539)aactctfs p.S513fs BRCA 11 102207781 102207781 + Missense_Mutation SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 g.chr11:102207781G>T c.1763G>T c.(1762-1764)tGt>tTt p.C588F CESC 11 102195673 102195673 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr11:102195673C>G c.433C>G c.(433-435)Cct>Gct p.P145A CHOL 11 102198793 102198793 + Missense_Mutation SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr11:102198793T>G c.964T>G c.(964-966)Ttg>Gtg p.L322V COAD 11 102195583 102195583 + Missense_Mutation SNP T T G TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr11:102195583T>G c.343T>G c.(343-345)Tct>Gct p.S115A COAD 11 102195607 102195607 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr11:102195607T>C c.367T>C c.(367-369)Tca>Cca p.S123P COAD 11 102195607 102195607 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr11:102195607T>C c.367T>C c.(367-369)Tca>Cca p.S123P COAD 11 102195607 102195607 + Missense_Mutation SNP T T C TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr11:102195607T>C c.367T>C c.(367-369)Tca>Cca p.S123P COAD 11 102195608 102195608 + Nonsense_Mutation SNP C C A TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr11:102195608C>A c.368C>A c.(367-369)tCa>tAa p.S123* COAD 11 102195982 102195982 + Missense_Mutation SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr11:102195982T>C c.742T>C c.(742-744)Tct>Cct p.S248P COAD 11 102196072 102196072 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:102196072A>C c.832A>C c.(832-834)Agt>Cgt p.S278R COAD 11 102196232 102196232 + Missense_Mutation SNP G G C TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr11:102196232G>C c.889G>C c.(889-891)Ggt>Cgt p.G297R COAD 11 102196232 102196232 + Missense_Mutation SNP G G T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr11:102196232G>T c.889G>T c.(889-891)Ggt>Tgt p.G297C COAD 11 102206786 102206786 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr11:102206786G>A c.1414G>A c.(1414-1416)Gga>Aga p.G472R COAD 11 102207519 102207519 + Silent SNP A A G TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr11:102207519A>G c.1608A>G c.(1606-1608)acA>acG p.T536T COAD 11 102207708 102207708 + Nonsense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr11:102207708G>T c.1690G>T c.(1690-1692)Gaa>Taa p.E564* COADREAD 11 102195260 102195260 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:102195260G>T c.20G>T c.(19-21)aGc>aTc p.S7I COADREAD 11 102195583 102195583 + Missense_Mutation SNP T T G TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr11:102195583T>G c.343T>G c.(343-345)Tct>Gct p.S115A COADREAD 11 102195607 102195607 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr11:102195607T>C c.367T>C c.(367-369)Tca>Cca p.S123P COADREAD 11 102195607 102195607 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr11:102195607T>C c.367T>C c.(367-369)Tca>Cca p.S123P COADREAD 11 102195607 102195607 + Missense_Mutation SNP T T C TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr11:102195607T>C c.367T>C c.(367-369)Tca>Cca p.S123P COADREAD 11 102195608 102195608 + Missense_Mutation SNP C C T TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr11:102195608C>T c.368C>T c.(367-369)tCa>tTa p.S123L COADREAD 11 102195608 102195608 + Missense_Mutation SNP C C T TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr11:102195608C>T c.368C>T c.(367-369)tCa>tTa p.S123L COADREAD 11 102195608 102195608 + Nonsense_Mutation SNP C C A TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr11:102195608C>A c.368C>A c.(367-369)tCa>tAa p.S123* COADREAD 11 102195755 102195755 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:102195755G>T c.515G>T c.(514-516)aGa>aTa p.R172I COADREAD 11 102195982 102195982 + Missense_Mutation SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr11:102195982T>C c.742T>C c.(742-744)Tct>Cct p.S248P COADREAD 11 102196072 102196072 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr11:102196072A>C c.832A>C c.(832-834)Agt>Cgt p.S278R COADREAD 11 102196232 102196232 + Missense_Mutation SNP G G C TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr11:102196232G>C c.889G>C c.(889-891)Ggt>Cgt p.G297R COADREAD 11 102196232 102196232 + Missense_Mutation SNP G G T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr11:102196232G>T c.889G>T c.(889-891)Ggt>Tgt p.G297C COADREAD 11 102201750 102201750 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:102201750G>T c.1102G>T c.(1102-1104)Gaa>Taa p.E368* COADREAD 11 102206715 102206715 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:102206715G>A c.1343G>A c.(1342-1344)cGg>cAg p.R448Q COADREAD 11 102206786 102206786 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr11:102206786G>A c.1414G>A c.(1414-1416)Gga>Aga p.G472R COADREAD 11 102206835 102206835 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:102206835C>T c.1463C>T c.(1462-1464)aCg>aTg p.T488M COADREAD 11 102207519 102207519 + Silent SNP A A G TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr11:102207519A>G c.1608A>G c.(1606-1608)acA>acG p.T536T COADREAD 11 102207708 102207708 + Nonsense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr11:102207708G>T c.1690G>T c.(1690-1692)Gaa>Taa p.E564* DLBC 11 102195297 102195297 + Silent SNP G G A TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr11:102195297G>A c.57G>A c.(55-57)acG>acA p.T19T DLBC 11 102195984 102195984 + Silent SNP T T A TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr11:102195984T>A c.744T>A c.(742-744)tcT>tcA p.S248S ESCA 11 102198860 102198860 + Splice_Site SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr11:102198860A>G c.1031A>G c.(1030-1032)cAg>cGg p.Q344R ESCA 11 102201960 102201960 + Nonsense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr11:102201960G>T c.1312G>T c.(1312-1314)Gaa>Taa p.E438* GBM 11 102195409 102195409 + Missense_Mutation SNP T T C TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr11:102195409T>C c.169T>C c.(169-171)Tac>Cac p.Y57H GBMLGG 11 102195409 102195409 + Missense_Mutation SNP T T C TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr11:102195409T>C c.169T>C c.(169-171)Tac>Cac p.Y57H GBMLGG 11 102206866 102206866 + Silent SNP G G A TCGA-TQ-A7RJ-01A-11D-A33T-08 TCGA-TQ-A7RJ-10A-01D-A33W-08 g.chr11:102206866G>A c.1494G>A c.(1492-1494)acG>acA p.T498T HNSC 11 102195383 102195383 + Missense_Mutation SNP G G A TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr11:102195383G>A c.143G>A c.(142-144)aGg>aAg p.R48K HNSC 11 102195384 102195384 + Silent SNP G G A TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr11:102195384G>A c.144G>A c.(142-144)agG>agA p.R48R HNSC 11 102195711 102195711 + Silent SNP G G A TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr11:102195711G>A c.471G>A c.(469-471)ttG>ttA p.L157L HNSC 11 102195714 102195714 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr11:102195714G>A c.474G>A c.(472-474)atG>atA p.M158I KICH 11 102201825 102201825 + Missense_Mutation SNP A A G TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr11:102201825A>G c.1177A>G c.(1177-1179)Agc>Ggc p.S393G KICH 11 102206944 102206944 + Missense_Mutation SNP T T G TCGA-KM-8639-01A-11D-2397-10 TCGA-KM-8639-10A-01D-2397-10 g.chr11:102206944T>G c.1572T>G c.(1570-1572)caT>caG p.H524Q KIPAN 11 102195478 102195478 + Missense_Mutation SNP G G T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr11:102195478G>T c.238G>T c.(238-240)Gac>Tac p.D80Y KIPAN 11 102201825 102201825 + Missense_Mutation SNP A A G TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr11:102201825A>G c.1177A>G c.(1177-1179)Agc>Ggc p.S393G KIPAN 11 102206699 102206699 + Missense_Mutation SNP G G A TCGA-CJ-4923-01A-01D-1429-08 TCGA-CJ-4923-11A-01D-1429-08 g.chr11:102206699G>A c.1327G>A c.(1327-1329)Gat>Aat p.D443N KIPAN 11 102206736 102206736 + Missense_Mutation SNP T T G TCGA-BP-4807-01A-01D-1373-10 TCGA-BP-4807-11A-01D-1373-10 g.chr11:102206736T>G c.1364T>G c.(1363-1365)tTt>tGt p.F455C KIPAN 11 102206814 102206814 + Missense_Mutation SNP T T G TCGA-AL-3473-01A-01D-1252-08 TCGA-AL-3473-10A-01D-1252-08 g.chr11:102206814T>G c.1442T>G c.(1441-1443)gTt>gGt p.V481G KIPAN 11 102206944 102206944 + Missense_Mutation SNP T T G TCGA-KM-8639-01A-11D-2397-10 TCGA-KM-8639-10A-01D-2397-10 g.chr11:102206944T>G c.1572T>G c.(1570-1572)caT>caG p.H524Q KIRC 11 102206699 102206699 + Missense_Mutation SNP G G A TCGA-CJ-4923-01A-01D-1429-08 TCGA-CJ-4923-11A-01D-1429-08 g.chr11:102206699G>A c.1327G>A c.(1327-1329)Gat>Aat p.D443N KIRC 11 102206736 102206736 + Missense_Mutation SNP T T G TCGA-BP-4807-01A-01D-1373-10 TCGA-BP-4807-11A-01D-1373-10 g.chr11:102206736T>G c.1364T>G c.(1363-1365)tTt>tGt p.F455C KIRP 11 102195478 102195478 + Missense_Mutation SNP G G T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr11:102195478G>T c.238G>T c.(238-240)Gac>Tac p.D80Y KIRP 11 102206814 102206814 + Missense_Mutation SNP T T G TCGA-AL-3473-01A-01D-1252-08 TCGA-AL-3473-10A-01D-1252-08 g.chr11:102206814T>G c.1442T>G c.(1441-1443)gTt>gGt p.V481G LGG 11 102206866 102206866 + Silent SNP G G A TCGA-TQ-A7RJ-01A-11D-A33T-08 TCGA-TQ-A7RJ-10A-01D-A33W-08 g.chr11:102206866G>A c.1494G>A c.(1492-1494)acG>acA p.T498T LIHC 11 102206786 102206786 + Nonsense_Mutation SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr11:102206786G>T c.1414G>T c.(1414-1416)Gga>Tga p.G472* LUAD 11 102196277 102196277 + Missense_Mutation SNP C C T TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr11:102196277C>T c.934C>T c.(934-936)Cat>Tat p.H312Y LUAD 11 102201833 102201838 + In_Frame_Del DEL AAAACA AAAACA - TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr11:102201833_102201838delAAAACA c.1185_1190delAAAACA c.(1183-1191)gtaaaacag>gtg p.KQ396del LUAD 11 102201846 102201846 + Nonsense_Mutation SNP C C T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr11:102201846C>T c.1198C>T c.(1198-1200)Cag>Tag p.Q400* LUAD 11 102206810 102206810 + Missense_Mutation SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr11:102206810G>A c.1438G>A c.(1438-1440)Gat>Aat p.D480N LUSC 11 102201750 102201750 + Missense_Mutation SNP G G A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr11:102201750G>A c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K LUSC 11 102201903 102201903 + Missense_Mutation SNP G G C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr11:102201903G>C c.1255G>C c.(1255-1257)Gac>Cac p.D419H LUSC 11 102207664 102207664 + Missense_Mutation SNP G G A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr11:102207664G>A c.1646G>A c.(1645-1647)cGg>cAg p.R549Q OV 11 102195609 102195609 + Silent SNP A A G TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 g.chr11:102195609A>G c.369A>G c.(367-369)tcA>tcG p.S123S OV 11 102195983 102195983 + Missense_Mutation SNP C C G TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 g.chr11:102195983C>G c.743C>G c.(742-744)tCt>tGt p.S248C OV 11 102207518 102207518 + Missense_Mutation SNP C C G TCGA-23-1110-01A-01D-0428-08 TCGA-23-1110-10A-01D-0428-08 g.chr11:102207518C>G c.1607C>G c.(1606-1608)aCa>aGa p.T536R PCPG 11 102195247 102195247 + Missense_Mutation SNP A A G TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 g.chr11:102195247A>G c.7A>G c.(7-9)Ata>Gta p.I3V PRAD 11 102195288 102195288 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:102195288C>T c.48C>T c.(46-48)agC>agT p.S16S READ 11 102195260 102195260 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:102195260G>T c.20G>T c.(19-21)aGc>aTc p.S7I READ 11 102195608 102195608 + Missense_Mutation SNP C C T TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr11:102195608C>T c.368C>T c.(367-369)tCa>tTa p.S123L READ 11 102195608 102195608 + Missense_Mutation SNP C C T TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr11:102195608C>T c.368C>T c.(367-369)tCa>tTa p.S123L READ 11 102195755 102195755 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:102195755G>T c.515G>T c.(514-516)aGa>aTa p.R172I READ 11 102201750 102201750 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:102201750G>T c.1102G>T c.(1102-1104)Gaa>Taa p.E368* READ 11 102206715 102206715 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:102206715G>A c.1343G>A c.(1342-1344)cGg>cAg p.R448Q READ 11 102206835 102206835 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:102206835C>T c.1463C>T c.(1462-1464)aCg>aTg p.T488M SKCM 11 102195416 102195416 + Missense_Mutation SNP G G C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr11:102195416G>C c.176G>C c.(175-177)gGt>gCt p.G59A SKCM 11 102195665 102195665 + Missense_Mutation SNP C C T TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr11:102195665C>T c.425C>T c.(424-426)cCa>cTa p.P142L SKCM 11 102195745 102195745 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr11:102195745G>A c.505G>A c.(505-507)Gaa>Aaa p.E169K SKCM 11 102196011 102196011 + Silent SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr11:102196011C>T c.771C>T c.(769-771)gcC>gcT p.A257A SKCM 11 102198822 102198822 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr11:102198822C>T c.993C>T c.(991-993)atC>atT p.I331I SKCM 11 102201741 102201741 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:102201741G>A c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K SKCM 11 102201752 102201752 + Silent SNP A A G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr11:102201752A>G c.1104A>G c.(1102-1104)gaA>gaG p.E368E SKCM 11 102207520 102207520 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr11:102207520G>A c.1609G>A c.(1609-1611)Gaa>Aaa p.E537K SKCM 11 102207729 102207729 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 g.chr11:102207729C>T c.1711C>T c.(1711-1713)Cct>Tct p.P571S SKCM 11 102207793 102207793 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr11:102207793G>A c.1775G>A c.(1774-1776)aGg>aAg p.R592K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 11 102195313 102195313 single base substitution G T downstream_gene_variant BLCA-CN 11 102195313 102195313 single base substitution G T missense_variant D25Y 73G>T BLCA-CN 11 102195313 102195313 single base substitution G T upstream_gene_variant BLCA-US 11 102195686 102195686 single base substitution G C downstream_gene_variant BLCA-US 11 102195686 102195686 single base substitution G C missense_variant R149T 446G>C BLCA-US 11 102195686 102195686 single base substitution G C upstream_gene_variant BRCA-EU 11 102184904 102184904 single base substitution G C upstream_gene_variant BRCA-EU 11 102185646 102185646 single base substitution G A upstream_gene_variant BRCA-EU 11 102187288 102187288 single base substitution G A upstream_gene_variant BRCA-EU 11 102188149 102188149 single base substitution C A upstream_gene_variant BRCA-EU 11 102189540 102189540 single base substitution A G intron_variant BRCA-EU 11 102189589 102189589 single base substitution G T intron_variant BRCA-EU 11 102190106 102190106 single base substitution T C intron_variant BRCA-EU 11 102192093 102192093 single base substitution A C intron_variant BRCA-EU 11 102192093 102192093 single base substitution A C upstream_gene_variant BRCA-EU 11 102192230 102192230 single base substitution C T intron_variant BRCA-EU 11 102192230 102192230 single base substitution C T upstream_gene_variant BRCA-EU 11 102193828 102193828 single base substitution G A 5_prime_UTR_variant BRCA-EU 11 102193828 102193828 single base substitution G A downstream_gene_variant BRCA-EU 11 102193828 102193828 single base substitution G A intron_variant BRCA-EU 11 102193828 102193828 single base substitution G A upstream_gene_variant BRCA-EU 11 102194114 102194114 single base substitution G A 5_prime_UTR_variant BRCA-EU 11 102194114 102194114 single base substitution G A downstream_gene_variant BRCA-EU 11 102194114 102194114 single base substitution G A intron_variant BRCA-EU 11 102194114 102194114 single base substitution G A upstream_gene_variant BRCA-EU 11 102200076 102200076 single base substitution T C intron_variant BRCA-EU 11 102200432 102200432 single base substitution A G intron_variant BRCA-EU 11 102202083 102202083 single base substitution G T downstream_gene_variant BRCA-EU 11 102202083 102202083 single base substitution G T intron_variant BRCA-EU 11 102202387 102202387 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 102202387 102202387 deletion of <=200bp T - intron_variant BRCA-EU 11 102202387 102202387 deletion of <=200bp T - upstream_gene_variant BRCA-EU 11 102203636 102203636 single base substitution G A downstream_gene_variant BRCA-EU 11 102203636 102203636 single base substitution G A intron_variant BRCA-EU 11 102203636 102203636 single base substitution G A upstream_gene_variant BRCA-EU 11 102206161 102206175 deletion of <=200bp TACATGACACCAGAC - downstream_gene_variant BRCA-EU 11 102206161 102206175 deletion of <=200bp TACATGACACCAGAC - intron_variant BRCA-EU 11 102206161 102206175 deletion of <=200bp TACATGACACCAGAC - upstream_gene_variant BRCA-EU 11 102206804 102206804 single base substitution G C missense_variant E478Q 1432G>C BRCA-EU 11 102206804 102206804 single base substitution G C upstream_gene_variant BRCA-EU 11 102208017 102208017 single base substitution A G 3_prime_UTR_variant BRCA-EU 11 102208017 102208017 single base substitution A G exon_variant BRCA-EU 11 102209726 102209726 single base substitution G T 3_prime_UTR_variant BRCA-EU 11 102209726 102209726 single base substitution G T downstream_gene_variant BRCA-EU 11 102209727 102209727 single base substitution G C 3_prime_UTR_variant BRCA-EU 11 102209727 102209727 single base substitution G C downstream_gene_variant BRCA-EU 11 102209834 102209834 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 102209834 102209834 single base substitution C G downstream_gene_variant BRCA-EU 11 102210415 102210415 single base substitution T C downstream_gene_variant BRCA-EU 11 102211442 102211442 single base substitution C G downstream_gene_variant BRCA-EU 11 102211557 102211557 single base substitution C A downstream_gene_variant BRCA-EU 11 102211919 102211919 single base substitution G C downstream_gene_variant BRCA-EU 11 102212037 102212037 single base substitution G A downstream_gene_variant BRCA-EU 11 102214192 102214192 single base substitution T C downstream_gene_variant BRCA-FR 11 102183269 102183269 single base substitution G A upstream_gene_variant BRCA-FR 11 102187776 102187776 single base substitution C T upstream_gene_variant BRCA-FR 11 102193828 102193828 single base substitution G A 5_prime_UTR_variant BRCA-FR 11 102193828 102193828 single base substitution G A downstream_gene_variant BRCA-FR 11 102193828 102193828 single base substitution G A intron_variant BRCA-FR 11 102193828 102193828 single base substitution G A upstream_gene_variant BRCA-FR 11 102200432 102200432 single base substitution A G intron_variant BRCA-UK 11 102211919 102211919 single base substitution G C downstream_gene_variant BRCA-US 11 102195805 102195805 single base substitution C G downstream_gene_variant BRCA-US 11 102195805 102195805 single base substitution C G missense_variant L189V 565C>G BRCA-US 11 102195805 102195805 single base substitution C G upstream_gene_variant BRCA-US 11 102206880 102206880 single base substitution G A missense_variant G503E 1508G>A BRCA-US 11 102206880 102206880 single base substitution G A upstream_gene_variant BRCA-US 11 102206908 102206909 deletion of <=200bp CT - frameshift_variant NS512 BRCA-US 11 102206908 102206909 deletion of <=200bp CT - upstream_gene_variant BRCA-US 11 102207781 102207781 single base substitution G T exon_variant BRCA-US 11 102207781 102207781 single base substitution G T missense_variant C588F 1763G>T BTCA-JP 11 102195636 102195636 single base substitution A C downstream_gene_variant BTCA-JP 11 102195636 102195636 single base substitution A C synonymous_variant G132G 396A>C BTCA-JP 11 102195636 102195636 single base substitution A C upstream_gene_variant CESC-US 11 102195673 102195673 single base substitution C G downstream_gene_variant CESC-US 11 102195673 102195673 single base substitution C G missense_variant P145A 433C>G CESC-US 11 102195673 102195673 single base substitution C G upstream_gene_variant CLLE-ES 11 102188343 102188343 single base substitution T C intron_variant CLLE-ES 11 102188421 102188421 single base substitution T A intron_variant CLLE-ES 11 102188528 102188528 single base substitution T C intron_variant CLLE-ES 11 102188552 102188552 single base substitution C T intron_variant CLLE-ES 11 102188616 102188616 single base substitution A C intron_variant CLLE-ES 11 102188632 102188632 single base substitution T C intron_variant CLLE-ES 11 102188662 102188662 single base substitution A G intron_variant CLLE-ES 11 102188677 102188677 single base substitution A G intron_variant CLLE-ES 11 102188685 102188685 single base substitution A G intron_variant CLLE-ES 11 102188690 102188690 single base substitution C T intron_variant CLLE-ES 11 102188694 102188694 single base substitution T C intron_variant CLLE-ES 11 102188730 102188730 single base substitution A G intron_variant CLLE-ES 11 102189205 102189205 single base substitution A G intron_variant CLLE-ES 11 102191173 102191173 single base substitution A G intron_variant CLLE-ES 11 102191173 102191173 single base substitution A G upstream_gene_variant CLLE-ES 11 102191451 102191452 deletion of <=200bp AT - intron_variant CLLE-ES 11 102191451 102191452 deletion of <=200bp AT - upstream_gene_variant CLLE-ES 11 102201929 102201933 deletion of <=200bp AAGGG - downstream_gene_variant CLLE-ES 11 102201929 102201933 deletion of <=200bp AAGGG - frameshift_variant IRE427 CLLE-ES 11 102201944 102201944 insertion of <=200bp - T downstream_gene_variant CLLE-ES 11 102201944 102201944 insertion of <=200bp - T frameshift_variant R432S? CLLE-ES 11 102205934 102205934 single base substitution C A downstream_gene_variant CLLE-ES 11 102205934 102205934 single base substitution C A intron_variant CLLE-ES 11 102205934 102205934 single base substitution C A upstream_gene_variant CLLE-ES 11 102207657 102207657 deletion of <=200bp C - exon_variant CLLE-ES 11 102207657 102207657 deletion of <=200bp C - frameshift_variant Q547 CLLE-ES 11 102207676 102207676 insertion of <=200bp - A exon_variant CLLE-ES 11 102207676 102207676 insertion of <=200bp - A frameshift_variant E553E? COAD-US 11 102195745 102195745 single base substitution G A downstream_gene_variant COAD-US 11 102195745 102195745 single base substitution G A missense_variant E169K 505G>A COAD-US 11 102195745 102195745 single base substitution G A upstream_gene_variant COCA-CN 11 102195795 102195795 single base substitution G A downstream_gene_variant COCA-CN 11 102195795 102195795 single base substitution G A synonymous_variant S185S 555G>A COCA-CN 11 102195795 102195795 single base substitution G A upstream_gene_variant EOPC-DE 11 102202624 102202624 single base substitution G A downstream_gene_variant EOPC-DE 11 102202624 102202624 single base substitution G A intron_variant EOPC-DE 11 102202624 102202624 single base substitution G A upstream_gene_variant ESAD-UK 11 102183654 102183654 single base substitution C A upstream_gene_variant ESAD-UK 11 102188691 102188691 single base substitution A G intron_variant ESAD-UK 11 102191251 102191251 single base substitution C T intron_variant ESAD-UK 11 102191251 102191251 single base substitution C T upstream_gene_variant ESAD-UK 11 102191738 102191738 single base substitution G C intron_variant ESAD-UK 11 102191738 102191738 single base substitution G C upstream_gene_variant ESAD-UK 11 102192067 102192067 single base substitution G C intron_variant ESAD-UK 11 102192067 102192067 single base substitution G C upstream_gene_variant ESAD-UK 11 102192394 102192395 deletion of <=200bp TG - intron_variant ESAD-UK 11 102192394 102192395 deletion of <=200bp TG - upstream_gene_variant ESAD-UK 11 102192490 102192490 single base substitution G T intron_variant ESAD-UK 11 102192490 102192490 single base substitution G T upstream_gene_variant ESAD-UK 11 102193449 102193449 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 11 102193449 102193449 single base substitution C A downstream_gene_variant ESAD-UK 11 102193449 102193449 single base substitution C A intron_variant ESAD-UK 11 102193449 102193449 single base substitution C A upstream_gene_variant ESAD-UK 11 102194786 102194786 single base substitution C T 5_prime_UTR_variant ESAD-UK 11 102194786 102194786 single base substitution C T downstream_gene_variant ESAD-UK 11 102194786 102194786 single base substitution C T intron_variant ESAD-UK 11 102194786 102194786 single base substitution C T upstream_gene_variant ESAD-UK 11 102196283 102196283 single base substitution A G downstream_gene_variant ESAD-UK 11 102196283 102196283 single base substitution A G missense_variant K314E 940A>G ESAD-UK 11 102196283 102196283 single base substitution A G missense_variant K77E 229A>G ESAD-UK 11 102200317 102200317 single base substitution C T intron_variant ESAD-UK 11 102200573 102200573 single base substitution C T intron_variant ESAD-UK 11 102206633 102206633 single base substitution G T downstream_gene_variant ESAD-UK 11 102206633 102206633 single base substitution G T intron_variant ESAD-UK 11 102206633 102206633 single base substitution G T upstream_gene_variant ESAD-UK 11 102207261 102207261 single base substitution G T exon_variant ESAD-UK 11 102207261 102207261 single base substitution G T intron_variant ESAD-UK 11 102209424 102209424 single base substitution A G 3_prime_UTR_variant ESAD-UK 11 102209424 102209424 single base substitution A G downstream_gene_variant ESAD-UK 11 102212148 102212148 single base substitution A T downstream_gene_variant ESAD-UK 11 102212879 102212879 single base substitution T C downstream_gene_variant ESAD-UK 11 102213463 102213463 single base substitution A G downstream_gene_variant ESCA-CN 11 102199609 102199609 deletion of <=200bp A - intron_variant ESCA-CN 11 102206748 102206748 single base substitution C T downstream_gene_variant ESCA-CN 11 102206748 102206748 single base substitution C T missense_variant T459I 1376C>T ESCA-CN 11 102206748 102206748 single base substitution C T upstream_gene_variant GBM-US 11 102195409 102195409 single base substitution T C downstream_gene_variant GBM-US 11 102195409 102195409 single base substitution T C missense_variant Y57H 169T>C GBM-US 11 102195409 102195409 single base substitution T C upstream_gene_variant KIRC-US 11 102206699 102206699 single base substitution G A downstream_gene_variant KIRC-US 11 102206699 102206699 single base substitution G A missense_variant D443N 1327G>A KIRC-US 11 102206699 102206699 single base substitution G A upstream_gene_variant KIRC-US 11 102206736 102206736 single base substitution T G downstream_gene_variant KIRC-US 11 102206736 102206736 single base substitution T G missense_variant F455C 1364T>G KIRC-US 11 102206736 102206736 single base substitution T G upstream_gene_variant KIRP-US 11 102206814 102206814 single base substitution T G missense_variant V481G 1442T>G KIRP-US 11 102206814 102206814 single base substitution T G upstream_gene_variant LICA-FR 11 102193509 102193510 deletion of <=200bp AA - 5_prime_UTR_variant LICA-FR 11 102193509 102193510 deletion of <=200bp AA - downstream_gene_variant LICA-FR 11 102193509 102193510 deletion of <=200bp AA - intron_variant LICA-FR 11 102193509 102193510 deletion of <=200bp AA - upstream_gene_variant LIHC-US 11 102206714 102206714 single base substitution C T downstream_gene_variant LIHC-US 11 102206714 102206714 single base substitution C T missense_variant R448W 1342C>T LIHC-US 11 102206714 102206714 single base substitution C T upstream_gene_variant LINC-JP 11 102207430 102207430 single base substitution A T exon_variant LINC-JP 11 102207430 102207430 single base substitution A T intron_variant LINC-JP 11 102207535 102207535 single base substitution A G intron_variant LINC-JP 11 102207535 102207535 single base substitution A G splice_region_variant LINC-JP 11 102209199 102209199 single base substitution C G 3_prime_UTR_variant LINC-JP 11 102209199 102209199 single base substitution C G downstream_gene_variant LINC-JP 11 102209942 102209942 insertion of <=200bp - T 3_prime_UTR_variant LINC-JP 11 102209942 102209942 insertion of <=200bp - T downstream_gene_variant LIRI-JP 11 102183580 102183580 single base substitution A T upstream_gene_variant LIRI-JP 11 102188665 102188665 single base substitution G A intron_variant LIRI-JP 11 102190360 102190360 single base substitution G T intron_variant LIRI-JP 11 102194472 102194472 single base substitution A G 5_prime_UTR_variant LIRI-JP 11 102194472 102194472 single base substitution A G downstream_gene_variant LIRI-JP 11 102194472 102194472 single base substitution A G intron_variant LIRI-JP 11 102194472 102194472 single base substitution A G upstream_gene_variant LIRI-JP 11 102194754 102194754 single base substitution A G 5_prime_UTR_variant LIRI-JP 11 102194754 102194754 single base substitution A G downstream_gene_variant LIRI-JP 11 102194754 102194754 single base substitution A G intron_variant LIRI-JP 11 102194754 102194754 single base substitution A G upstream_gene_variant LIRI-JP 11 102197271 102197271 single base substitution G C downstream_gene_variant LIRI-JP 11 102197271 102197271 single base substitution G C intron_variant LIRI-JP 11 102201606 102201606 single base substitution A G intron_variant LIRI-JP 11 102203235 102203235 single base substitution G C downstream_gene_variant LIRI-JP 11 102203235 102203235 single base substitution G C intron_variant LIRI-JP 11 102203235 102203235 single base substitution G C upstream_gene_variant LIRI-JP 11 102204159 102204159 single base substitution G T downstream_gene_variant LIRI-JP 11 102204159 102204159 single base substitution G T intron_variant LIRI-JP 11 102204159 102204159 single base substitution G T upstream_gene_variant LIRI-JP 11 102207639 102207639 single base substitution G T splice_acceptor_variant LIRI-JP 11 102207660 102207660 single base substitution T C exon_variant LIRI-JP 11 102207660 102207660 single base substitution T C synonymous_variant L548L 1642T>C LIRI-JP 11 102211242 102211242 single base substitution C G downstream_gene_variant LIRI-JP 11 102211459 102211459 single base substitution G A downstream_gene_variant LUSC-KR 11 102185633 102185633 single base substitution C T upstream_gene_variant LUSC-KR 11 102188453 102188453 single base substitution A G intron_variant LUSC-KR 11 102190742 102190742 single base substitution G C intron_variant LUSC-KR 11 102190742 102190742 single base substitution G C splice_region_variant LUSC-KR 11 102193784 102193784 single base substitution C G 5_prime_UTR_variant LUSC-KR 11 102193784 102193784 single base substitution C G downstream_gene_variant LUSC-KR 11 102193784 102193784 single base substitution C G intron_variant LUSC-KR 11 102193784 102193784 single base substitution C G upstream_gene_variant LUSC-KR 11 102204537 102204537 single base substitution T A downstream_gene_variant LUSC-KR 11 102204537 102204537 single base substitution T A intron_variant LUSC-KR 11 102204537 102204537 single base substitution T A upstream_gene_variant LUSC-KR 11 102210305 102210305 single base substitution C T downstream_gene_variant LUSC-KR 11 102212637 102212637 single base substitution T C downstream_gene_variant LUSC-US 11 102201750 102201750 single base substitution G A missense_variant E172K 514G>A LUSC-US 11 102201750 102201750 single base substitution G A missense_variant E368K 1102G>A LUSC-US 11 102201903 102201903 single base substitution G C downstream_gene_variant LUSC-US 11 102201903 102201903 single base substitution G C missense_variant D419H 1255G>C LUSC-US 11 102207664 102207664 single base substitution G A exon_variant LUSC-US 11 102207664 102207664 single base substitution G A missense_variant R549Q 1646G>A MALY-DE 11 102184492 102184492 single base substitution T A upstream_gene_variant MALY-DE 11 102187792 102187792 single base substitution A G upstream_gene_variant MALY-DE 11 102188342 102188343 deletion of <=200bp GT - intron_variant MALY-DE 11 102188356 102188356 single base substitution A T intron_variant MALY-DE 11 102188379 102188379 single base substitution C A intron_variant MALY-DE 11 102188379 102188379 single base substitution C T intron_variant MALY-DE 11 102188386 102188386 single base substitution G A intron_variant MALY-DE 11 102188412 102188412 single base substitution A T intron_variant MALY-DE 11 102188444 102188444 single base substitution C G intron_variant MALY-DE 11 102188463 102188463 single base substitution G A intron_variant MALY-DE 11 102188482 102188482 single base substitution A G intron_variant MALY-DE 11 102188482 102188483 deletion of <=200bp AC - intron_variant MALY-DE 11 102188485 102188485 single base substitution C G intron_variant MALY-DE 11 102188486 102188486 single base substitution C T intron_variant MALY-DE 11 102188495 102188495 single base substitution A G intron_variant MALY-DE 11 102188499 102188499 single base substitution C T intron_variant MALY-DE 11 102188501 102188501 single base substitution G C intron_variant MALY-DE 11 102188504 102188504 single base substitution T C intron_variant MALY-DE 11 102188505 102188505 single base substitution C T intron_variant MALY-DE 11 102188506 102188506 single base substitution T C intron_variant MALY-DE 11 102188510 102188510 single base substitution T G intron_variant MALY-DE 11 102188519 102188519 single base substitution G C intron_variant MALY-DE 11 102188522 102188522 single base substitution G A intron_variant MALY-DE 11 102188523 102188523 single base substitution C G intron_variant MALY-DE 11 102188523 102188523 single base substitution C T intron_variant MALY-DE 11 102188529 102188529 single base substitution T G intron_variant MALY-DE 11 102188533 102188533 single base substitution A C intron_variant MALY-DE 11 102188536 102188536 single base substitution T A intron_variant MALY-DE 11 102188539 102188539 single base substitution C T intron_variant MALY-DE 11 102188540 102188540 single base substitution G A intron_variant MALY-DE 11 102188540 102188540 single base substitution G C intron_variant MALY-DE 11 102188545 102188545 single base substitution G C intron_variant MALY-DE 11 102188549 102188549 single base substitution G C intron_variant MALY-DE 11 102188557 102188557 single base substitution G T intron_variant MALY-DE 11 102188558 102188558 single base substitution G C intron_variant MALY-DE 11 102188561 102188561 single base substitution T C intron_variant MALY-DE 11 102188568 102188568 single base substitution G C intron_variant MALY-DE 11 102188570 102188570 single base substitution T G intron_variant MALY-DE 11 102188574 102188574 single base substitution G A intron_variant MALY-DE 11 102188574 102188574 single base substitution G T intron_variant MALY-DE 11 102188578 102188578 single base substitution T C intron_variant MALY-DE 11 102188588 102188588 single base substitution T G intron_variant MALY-DE 11 102188591 102188591 single base substitution C A intron_variant MALY-DE 11 102188593 102188593 single base substitution A G intron_variant MALY-DE 11 102188594 102188594 single base substitution A G intron_variant MALY-DE 11 102188597 102188597 single base substitution G C intron_variant MALY-DE 11 102188600 102188600 single base substitution A T intron_variant MALY-DE 11 102188602 102188602 single base substitution C T intron_variant MALY-DE 11 102188621 102188621 single base substitution C T intron_variant MALY-DE 11 102188623 102188623 single base substitution A T intron_variant MALY-DE 11 102188626 102188626 single base substitution T A intron_variant MALY-DE 11 102188630 102188630 single base substitution T A intron_variant MALY-DE 11 102188635 102188635 single base substitution G A intron_variant MALY-DE 11 102188635 102188635 single base substitution G C intron_variant MALY-DE 11 102188643 102188643 single base substitution C T intron_variant MALY-DE 11 102188644 102188644 insertion of <=200bp - CTAGGG intron_variant MALY-DE 11 102188644 102188644 single base substitution C T intron_variant MALY-DE 11 102188645 102188645 single base substitution T C intron_variant MALY-DE 11 102188652 102188652 single base substitution G A intron_variant MALY-DE 11 102188653 102188653 single base substitution A T intron_variant MALY-DE 11 102188654 102188654 single base substitution G A intron_variant MALY-DE 11 102188654 102188654 single base substitution G C intron_variant MALY-DE 11 102188655 102188655 single base substitution C G intron_variant MALY-DE 11 102188655 102188655 single base substitution C T intron_variant MALY-DE 11 102188658 102188658 single base substitution T C intron_variant MALY-DE 11 102188665 102188665 single base substitution G A intron_variant MALY-DE 11 102188669 102188669 single base substitution G A intron_variant MALY-DE 11 102188670 102188670 single base substitution G A intron_variant MALY-DE 11 102188673 102188673 single base substitution G A intron_variant MALY-DE 11 102188673 102188673 single base substitution G C intron_variant MALY-DE 11 102188680 102188680 single base substitution G C intron_variant MALY-DE 11 102188686 102188686 single base substitution T C intron_variant MALY-DE 11 102188689 102188689 single base substitution G C intron_variant MALY-DE 11 102188699 102188699 single base substitution G T intron_variant MALY-DE 11 102188704 102188704 single base substitution T A intron_variant MALY-DE 11 102188707 102188707 single base substitution C G intron_variant MALY-DE 11 102188714 102188714 single base substitution G A intron_variant MALY-DE 11 102188720 102188720 single base substitution G A intron_variant MALY-DE 11 102188721 102188721 single base substitution G T intron_variant MALY-DE 11 102188723 102188723 single base substitution A G intron_variant MALY-DE 11 102188726 102188726 single base substitution C T intron_variant MALY-DE 11 102188728 102188728 single base substitution G A intron_variant MALY-DE 11 102188731 102188731 single base substitution G A intron_variant MALY-DE 11 102188738 102188738 single base substitution G A intron_variant MALY-DE 11 102188748 102188748 single base substitution T C intron_variant MALY-DE 11 102188757 102188757 single base substitution G A intron_variant MALY-DE 11 102188758 102188758 single base substitution C T intron_variant MALY-DE 11 102188759 102188759 single base substitution A G intron_variant MALY-DE 11 102188766 102188766 single base substitution C T intron_variant MALY-DE 11 102188767 102188767 single base substitution C T intron_variant MALY-DE 11 102188781 102188781 single base substitution A C intron_variant MALY-DE 11 102188784 102188784 single base substitution C T intron_variant MALY-DE 11 102188789 102188789 single base substitution C T intron_variant MALY-DE 11 102188792 102188792 single base substitution T A intron_variant MALY-DE 11 102188793 102188793 single base substitution A T intron_variant MALY-DE 11 102188803 102188803 single base substitution A T intron_variant MALY-DE 11 102188805 102188805 single base substitution G C intron_variant MALY-DE 11 102188807 102188807 single base substitution A C intron_variant MALY-DE 11 102188809 102188809 single base substitution G A intron_variant MALY-DE 11 102188810 102188810 single base substitution T C intron_variant MALY-DE 11 102188812 102188812 single base substitution C T intron_variant MALY-DE 11 102188813 102188813 single base substitution C T intron_variant MALY-DE 11 102188818 102188818 single base substitution G A intron_variant MALY-DE 11 102188819 102188819 single base substitution C T intron_variant MALY-DE 11 102188820 102188820 single base substitution T G intron_variant MALY-DE 11 102188821 102188821 single base substitution A T intron_variant MALY-DE 11 102188822 102188822 single base substitution A G intron_variant MALY-DE 11 102188828 102188828 single base substitution C G intron_variant MALY-DE 11 102188830 102188830 single base substitution A G intron_variant MALY-DE 11 102188834 102188834 single base substitution T A intron_variant MALY-DE 11 102188835 102188835 single base substitution A C intron_variant MALY-DE 11 102188839 102188839 single base substitution A C intron_variant MALY-DE 11 102188851 102188851 single base substitution A C intron_variant MALY-DE 11 102188855 102188855 single base substitution G A intron_variant MALY-DE 11 102188856 102188856 single base substitution C G intron_variant MALY-DE 11 102188856 102188856 single base substitution C T intron_variant MALY-DE 11 102188857 102188857 single base substitution T A intron_variant MALY-DE 11 102188861 102188861 single base substitution A G intron_variant MALY-DE 11 102188865 102188865 single base substitution A G intron_variant MALY-DE 11 102188879 102188879 single base substitution G C intron_variant MALY-DE 11 102188884 102188884 single base substitution G A intron_variant MALY-DE 11 102188892 102188892 single base substitution C T intron_variant MALY-DE 11 102188898 102188898 single base substitution G A intron_variant MALY-DE 11 102188921 102188921 single base substitution T C intron_variant MALY-DE 11 102188937 102188937 single base substitution G T intron_variant MALY-DE 11 102188944 102188944 single base substitution T A intron_variant MALY-DE 11 102188949 102188949 single base substitution T A intron_variant MALY-DE 11 102188955 102188955 single base substitution T A intron_variant MALY-DE 11 102188956 102188956 single base substitution A C intron_variant MALY-DE 11 102188961 102188961 single base substitution G A intron_variant MALY-DE 11 102188962 102188962 single base substitution C T intron_variant MALY-DE 11 102188967 102188967 single base substitution A T intron_variant MALY-DE 11 102188984 102188984 single base substitution T A intron_variant MALY-DE 11 102189004 102189004 single base substitution G A intron_variant MALY-DE 11 102189009 102189009 single base substitution T A intron_variant MALY-DE 11 102189034 102189034 single base substitution G C intron_variant MALY-DE 11 102189083 102189083 single base substitution C G intron_variant MALY-DE 11 102189096 102189096 single base substitution C G intron_variant MALY-DE 11 102189225 102189225 single base substitution C T intron_variant MALY-DE 11 102189245 102189245 single base substitution G A intron_variant MALY-DE 11 102189265 102189265 single base substitution T G intron_variant MALY-DE 11 102189277 102189277 single base substitution C T intron_variant MALY-DE 11 102189290 102189290 single base substitution G C intron_variant MALY-DE 11 102189293 102189293 single base substitution T G intron_variant MALY-DE 11 102189336 102189336 single base substitution C T intron_variant MALY-DE 11 102189424 102189424 single base substitution T G intron_variant MALY-DE 11 102189467 102189467 single base substitution T C intron_variant MALY-DE 11 102189481 102189481 single base substitution A C intron_variant MALY-DE 11 102189508 102189508 single base substitution G A intron_variant MALY-DE 11 102189544 102189544 single base substitution C G intron_variant MALY-DE 11 102189572 102189572 single base substitution T C intron_variant MALY-DE 11 102189604 102189604 single base substitution C T intron_variant MALY-DE 11 102190251 102190251 single base substitution G T intron_variant MALY-DE 11 102193123 102193123 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 11 102193123 102193123 single base substitution G A downstream_gene_variant MALY-DE 11 102193123 102193123 single base substitution G A intron_variant MALY-DE 11 102193123 102193123 single base substitution G A upstream_gene_variant MALY-DE 11 102194207 102194207 single base substitution A G 5_prime_UTR_variant MALY-DE 11 102194207 102194207 single base substitution A G downstream_gene_variant MALY-DE 11 102194207 102194207 single base substitution A G intron_variant MALY-DE 11 102194207 102194207 single base substitution A G upstream_gene_variant MALY-DE 11 102196108 102196110 deletion of <=200bp CTG - downstream_gene_variant MALY-DE 11 102196108 102196110 deletion of <=200bp CTG - intron_variant MALY-DE 11 102197680 102197680 single base substitution T C downstream_gene_variant MALY-DE 11 102197680 102197680 single base substitution T C intron_variant MALY-DE 11 102198557 102198557 insertion of <=200bp - T intron_variant MALY-DE 11 102201588 102201588 single base substitution A T intron_variant MALY-DE 11 102203992 102203992 single base substitution C T downstream_gene_variant MALY-DE 11 102203992 102203992 single base substitution C T intron_variant MALY-DE 11 102203992 102203992 single base substitution C T upstream_gene_variant MALY-DE 11 102204038 102204038 single base substitution A G downstream_gene_variant MALY-DE 11 102204038 102204038 single base substitution A G intron_variant MALY-DE 11 102204038 102204038 single base substitution A G upstream_gene_variant MALY-DE 11 102206248 102206248 single base substitution C G downstream_gene_variant MALY-DE 11 102206248 102206248 single base substitution C G intron_variant MALY-DE 11 102206248 102206248 single base substitution C G upstream_gene_variant MALY-DE 11 102207166 102207166 single base substitution T A intron_variant MALY-DE 11 102207166 102207166 single base substitution T A upstream_gene_variant MALY-DE 11 102211507 102211507 single base substitution C G downstream_gene_variant MALY-DE 11 102213562 102213562 single base substitution T A downstream_gene_variant MALY-DE 11 102214081 102214081 single base substitution C T downstream_gene_variant MALY-DE 11 102214479 102214479 single base substitution T A downstream_gene_variant MALY-DE 11 102214512 102214512 single base substitution T G downstream_gene_variant MELA-AU 11 102183332 102183332 single base substitution C G upstream_gene_variant MELA-AU 11 102184545 102184545 single base substitution G A upstream_gene_variant MELA-AU 11 102184805 102184805 single base substitution G A upstream_gene_variant MELA-AU 11 102184860 102184860 single base substitution G T upstream_gene_variant MELA-AU 11 102184931 102184931 single base substitution G A upstream_gene_variant MELA-AU 11 102185011 102185011 single base substitution G A upstream_gene_variant MELA-AU 11 102185458 102185458 single base substitution C T upstream_gene_variant MELA-AU 11 102185471 102185471 single base substitution G A upstream_gene_variant MELA-AU 11 102185925 102185925 single base substitution G A upstream_gene_variant MELA-AU 11 102186047 102186047 single base substitution G A upstream_gene_variant MELA-AU 11 102187419 102187420 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 11 102187755 102187755 single base substitution C T upstream_gene_variant MELA-AU 11 102189844 102189844 single base substitution G A intron_variant MELA-AU 11 102189861 102189861 single base substitution A G intron_variant MELA-AU 11 102189937 102189937 single base substitution G A intron_variant MELA-AU 11 102190321 102190321 single base substitution T A intron_variant MELA-AU 11 102190463 102190463 single base substitution C T intron_variant MELA-AU 11 102190506 102190506 single base substitution C T intron_variant MELA-AU 11 102190913 102190913 single base substitution G A intron_variant MELA-AU 11 102191416 102191416 single base substitution C T intron_variant MELA-AU 11 102191416 102191416 single base substitution C T upstream_gene_variant MELA-AU 11 102192396 102192396 insertion of <=200bp - T intron_variant MELA-AU 11 102192396 102192396 insertion of <=200bp - T upstream_gene_variant MELA-AU 11 102192655 102192655 single base substitution C T 5_prime_UTR_variant MELA-AU 11 102192655 102192655 single base substitution C T exon_variant MELA-AU 11 102192655 102192655 single base substitution C T intron_variant MELA-AU 11 102192655 102192655 single base substitution C T upstream_gene_variant MELA-AU 11 102192656 102192656 single base substitution C T 5_prime_UTR_variant MELA-AU 11 102192656 102192656 single base substitution C T exon_variant MELA-AU 11 102192656 102192656 single base substitution C T intron_variant MELA-AU 11 102192656 102192656 single base substitution C T upstream_gene_variant MELA-AU 11 102192949 102192949 single base substitution T A 5_prime_UTR_variant MELA-AU 11 102192949 102192949 single base substitution T A downstream_gene_variant MELA-AU 11 102192949 102192949 single base substitution T A exon_variant MELA-AU 11 102192949 102192949 single base substitution T A intron_variant MELA-AU 11 102192949 102192949 single base substitution T A upstream_gene_variant MELA-AU 11 102193344 102193344 single base substitution G A 5_prime_UTR_variant MELA-AU 11 102193344 102193344 single base substitution G A downstream_gene_variant MELA-AU 11 102193344 102193344 single base substitution G A intron_variant MELA-AU 11 102193344 102193344 single base substitution G A upstream_gene_variant MELA-AU 11 102193386 102193386 single base substitution G A 5_prime_UTR_variant MELA-AU 11 102193386 102193386 single base substitution G A downstream_gene_variant MELA-AU 11 102193386 102193386 single base substitution G A intron_variant MELA-AU 11 102193386 102193386 single base substitution G A upstream_gene_variant MELA-AU 11 102194324 102194324 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 102194324 102194324 single base substitution A T downstream_gene_variant MELA-AU 11 102194324 102194324 single base substitution A T intron_variant MELA-AU 11 102194324 102194324 single base substitution A T upstream_gene_variant MELA-AU 11 102194447 102194447 single base substitution T C 5_prime_UTR_variant MELA-AU 11 102194447 102194447 single base substitution T C downstream_gene_variant MELA-AU 11 102194447 102194447 single base substitution T C intron_variant MELA-AU 11 102194447 102194447 single base substitution T C upstream_gene_variant MELA-AU 11 102194718 102194718 single base substitution C T 5_prime_UTR_variant MELA-AU 11 102194718 102194718 single base substitution C T downstream_gene_variant MELA-AU 11 102194718 102194718 single base substitution C T intron_variant MELA-AU 11 102194718 102194718 single base substitution C T upstream_gene_variant MELA-AU 11 102195135 102195135 single base substitution C T 5_prime_UTR_variant MELA-AU 11 102195135 102195135 single base substitution C T downstream_gene_variant MELA-AU 11 102195135 102195135 single base substitution C T intron_variant MELA-AU 11 102195135 102195135 single base substitution C T upstream_gene_variant MELA-AU 11 102195226 102195226 single base substitution C T 5_prime_UTR_variant MELA-AU 11 102195226 102195226 single base substitution C T downstream_gene_variant MELA-AU 11 102195226 102195226 single base substitution C T upstream_gene_variant MELA-AU 11 102195358 102195358 single base substitution C T downstream_gene_variant MELA-AU 11 102195358 102195358 single base substitution C T missense_variant P40S 118C>T MELA-AU 11 102195358 102195358 single base substitution C T upstream_gene_variant MELA-AU 11 102195634 102195634 single base substitution G A downstream_gene_variant MELA-AU 11 102195634 102195634 single base substitution G A missense_variant G132R 394G>A MELA-AU 11 102195634 102195634 single base substitution G A upstream_gene_variant MELA-AU 11 102195697 102195697 single base substitution G A downstream_gene_variant MELA-AU 11 102195697 102195697 single base substitution G A missense_variant D153N 457G>A MELA-AU 11 102195697 102195697 single base substitution G A upstream_gene_variant MELA-AU 11 102195744 102195744 single base substitution C T downstream_gene_variant MELA-AU 11 102195744 102195744 single base substitution C T synonymous_variant N168N 504C>T MELA-AU 11 102195744 102195744 single base substitution C T upstream_gene_variant MELA-AU 11 102196057 102196057 single base substitution C T downstream_gene_variant MELA-AU 11 102196057 102196057 single base substitution C T missense_variant P273S 817C>T MELA-AU 11 102196057 102196057 single base substitution C T missense_variant P36S 106C>T MELA-AU 11 102196901 102196901 single base substitution C T downstream_gene_variant MELA-AU 11 102196901 102196901 single base substitution C T intron_variant MELA-AU 11 102197004 102197004 single base substitution G A downstream_gene_variant MELA-AU 11 102197004 102197004 single base substitution G A intron_variant MELA-AU 11 102197115 102197115 single base substitution C T downstream_gene_variant MELA-AU 11 102197115 102197115 single base substitution C T intron_variant MELA-AU 11 102197116 102197116 single base substitution C T downstream_gene_variant MELA-AU 11 102197116 102197116 single base substitution C T intron_variant MELA-AU 11 102197250 102197250 single base substitution C T downstream_gene_variant MELA-AU 11 102197250 102197250 single base substitution C T intron_variant MELA-AU 11 102197265 102197265 single base substitution C T downstream_gene_variant MELA-AU 11 102197265 102197265 single base substitution C T intron_variant MELA-AU 11 102197443 102197443 single base substitution T C downstream_gene_variant MELA-AU 11 102197443 102197443 single base substitution T C intron_variant MELA-AU 11 102197494 102197494 single base substitution G A downstream_gene_variant MELA-AU 11 102197494 102197494 single base substitution G A intron_variant MELA-AU 11 102197494 102197494 single base substitution G A missense_variant D93N 277G>A MELA-AU 11 102197606 102197606 single base substitution A C downstream_gene_variant MELA-AU 11 102197606 102197606 single base substitution A C intron_variant MELA-AU 11 102197747 102197747 single base substitution G A downstream_gene_variant MELA-AU 11 102197747 102197747 single base substitution G A intron_variant MELA-AU 11 102197844 102197844 single base substitution C T downstream_gene_variant MELA-AU 11 102197844 102197844 single base substitution C T intron_variant MELA-AU 11 102197870 102197870 single base substitution C T downstream_gene_variant MELA-AU 11 102197870 102197870 single base substitution C T intron_variant MELA-AU 11 102198112 102198112 single base substitution C T intron_variant MELA-AU 11 102198145 102198145 single base substitution G A intron_variant MELA-AU 11 102198339 102198339 single base substitution C T intron_variant MELA-AU 11 102199157 102199157 single base substitution C T intron_variant MELA-AU 11 102199318 102199318 single base substitution C T intron_variant MELA-AU 11 102199613 102199613 single base substitution T A intron_variant MELA-AU 11 102199688 102199688 single base substitution G A intron_variant MELA-AU 11 102200355 102200355 single base substitution C T intron_variant MELA-AU 11 102200849 102200849 single base substitution C A intron_variant MELA-AU 11 102200878 102200878 single base substitution C T intron_variant MELA-AU 11 102200900 102200900 single base substitution C T intron_variant MELA-AU 11 102201228 102201228 single base substitution C T intron_variant MELA-AU 11 102201330 102201330 single base substitution G A intron_variant MELA-AU 11 102201431 102201431 single base substitution T A intron_variant MELA-AU 11 102201670 102201670 single base substitution T C intron_variant MELA-AU 11 102201672 102201672 single base substitution C T intron_variant MELA-AU 11 102201697 102201697 single base substitution C A intron_variant MELA-AU 11 102201735 102201735 single base substitution C T missense_variant H167Y 499C>T MELA-AU 11 102201735 102201735 single base substitution C T missense_variant H363Y 1087C>T MELA-AU 11 102202202 102202202 single base substitution C T downstream_gene_variant MELA-AU 11 102202202 102202202 single base substitution C T intron_variant MELA-AU 11 102202755 102202755 single base substitution C T downstream_gene_variant MELA-AU 11 102202755 102202755 single base substitution C T intron_variant MELA-AU 11 102202755 102202755 single base substitution C T upstream_gene_variant MELA-AU 11 102204921 102204921 single base substitution C T downstream_gene_variant MELA-AU 11 102204921 102204921 single base substitution C T intron_variant MELA-AU 11 102204921 102204921 single base substitution C T upstream_gene_variant MELA-AU 11 102205063 102205064 multiple base substitution (>=2bp and <=200bp) AT TC downstream_gene_variant MELA-AU 11 102205063 102205064 multiple base substitution (>=2bp and <=200bp) AT TC intron_variant MELA-AU 11 102205063 102205064 multiple base substitution (>=2bp and <=200bp) AT TC upstream_gene_variant MELA-AU 11 102205441 102205441 single base substitution G A downstream_gene_variant MELA-AU 11 102205441 102205441 single base substitution G A intron_variant MELA-AU 11 102205441 102205441 single base substitution G A upstream_gene_variant MELA-AU 11 102205449 102205449 single base substitution A G downstream_gene_variant MELA-AU 11 102205449 102205449 single base substitution A G intron_variant MELA-AU 11 102205449 102205449 single base substitution A G upstream_gene_variant MELA-AU 11 102205855 102205855 single base substitution C T downstream_gene_variant MELA-AU 11 102205855 102205855 single base substitution C T intron_variant MELA-AU 11 102205855 102205855 single base substitution C T upstream_gene_variant MELA-AU 11 102205927 102205927 single base substitution C T downstream_gene_variant MELA-AU 11 102205927 102205927 single base substitution C T intron_variant MELA-AU 11 102205927 102205927 single base substitution C T upstream_gene_variant MELA-AU 11 102205988 102205988 single base substitution A T downstream_gene_variant MELA-AU 11 102205988 102205988 single base substitution A T intron_variant MELA-AU 11 102205988 102205988 single base substitution A T upstream_gene_variant MELA-AU 11 102206406 102206406 single base substitution T C downstream_gene_variant MELA-AU 11 102206406 102206406 single base substitution T C intron_variant MELA-AU 11 102206406 102206406 single base substitution T C upstream_gene_variant MELA-AU 11 102206606 102206606 single base substitution G A downstream_gene_variant MELA-AU 11 102206606 102206606 single base substitution G A intron_variant MELA-AU 11 102206606 102206606 single base substitution G A upstream_gene_variant MELA-AU 11 102206708 102206708 single base substitution T A downstream_gene_variant MELA-AU 11 102206708 102206708 single base substitution T A missense_variant L446I 1336T>A MELA-AU 11 102206708 102206708 single base substitution T A upstream_gene_variant MELA-AU 11 102206958 102206958 single base substitution G A splice_region_variant MELA-AU 11 102206958 102206958 single base substitution G A upstream_gene_variant MELA-AU 11 102207664 102207665 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 11 102207664 102207665 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant R549Q 1646GG>AA MELA-AU 11 102208110 102208110 single base substitution G A 3_prime_UTR_variant MELA-AU 11 102208110 102208110 single base substitution G A downstream_gene_variant MELA-AU 11 102208694 102208694 single base substitution C T 3_prime_UTR_variant MELA-AU 11 102208694 102208694 single base substitution C T downstream_gene_variant MELA-AU 11 102209263 102209263 single base substitution G A 3_prime_UTR_variant MELA-AU 11 102209263 102209263 single base substitution G A downstream_gene_variant MELA-AU 11 102209408 102209408 single base substitution G A 3_prime_UTR_variant MELA-AU 11 102209408 102209408 single base substitution G A downstream_gene_variant MELA-AU 11 102209729 102209729 single base substitution G A 3_prime_UTR_variant MELA-AU 11 102209729 102209729 single base substitution G A downstream_gene_variant MELA-AU 11 102209789 102209789 single base substitution G A 3_prime_UTR_variant MELA-AU 11 102209789 102209789 single base substitution G A downstream_gene_variant MELA-AU 11 102210296 102210296 single base substitution G A downstream_gene_variant MELA-AU 11 102210305 102210305 single base substitution C T downstream_gene_variant MELA-AU 11 102210596 102210596 single base substitution C T downstream_gene_variant MELA-AU 11 102210647 102210647 single base substitution G A downstream_gene_variant MELA-AU 11 102211324 102211324 single base substitution C G downstream_gene_variant MELA-AU 11 102211525 102211525 single base substitution T C downstream_gene_variant MELA-AU 11 102211557 102211557 single base substitution C T downstream_gene_variant MELA-AU 11 102211837 102211837 single base substitution G A downstream_gene_variant MELA-AU 11 102211868 102211868 single base substitution G A downstream_gene_variant MELA-AU 11 102212159 102212159 single base substitution C T downstream_gene_variant MELA-AU 11 102212413 102212413 single base substitution C T downstream_gene_variant MELA-AU 11 102214628 102214628 single base substitution G A downstream_gene_variant ORCA-IN 11 102199633 102199633 single base substitution A G synonymous_variant L150L 450A>G ORCA-IN 11 102199633 102199633 single base substitution A G synonymous_variant L346L 1038A>G OV-AU 11 102188166 102188166 single base substitution G A upstream_gene_variant OV-AU 11 102194119 102194119 single base substitution C G 5_prime_UTR_variant OV-AU 11 102194119 102194119 single base substitution C G downstream_gene_variant OV-AU 11 102194119 102194119 single base substitution C G intron_variant OV-AU 11 102194119 102194119 single base substitution C G upstream_gene_variant OV-AU 11 102201719 102201719 single base substitution G A intron_variant OV-AU 11 102204554 102204554 single base substitution G C downstream_gene_variant OV-AU 11 102204554 102204554 single base substitution G C intron_variant OV-AU 11 102204554 102204554 single base substitution G C upstream_gene_variant OV-AU 11 102207650 102207650 single base substitution G T exon_variant OV-AU 11 102207650 102207650 single base substitution G T synonymous_variant V544V 1632G>T OV-AU 11 102211742 102211742 single base substitution G C downstream_gene_variant OV-US 11 102195609 102195609 single base substitution A G downstream_gene_variant OV-US 11 102195609 102195609 single base substitution A G synonymous_variant S123S 369A>G OV-US 11 102195609 102195609 single base substitution A G upstream_gene_variant OV-US 11 102195983 102195983 single base substitution C G downstream_gene_variant OV-US 11 102195983 102195983 single base substitution C G missense_variant S11C 32C>G OV-US 11 102195983 102195983 single base substitution C G missense_variant S248C 743C>G PACA-AU 11 102195273 102195273 single base substitution A C downstream_gene_variant PACA-AU 11 102195273 102195273 single base substitution A C synonymous_variant S11S 33A>C PACA-AU 11 102195273 102195273 single base substitution A C upstream_gene_variant PACA-AU 11 102199609 102199609 single base substitution A T intron_variant PACA-AU 11 102212273 102212273 deletion of <=200bp G - downstream_gene_variant PACA-CA 11 102183640 102183640 single base substitution T G upstream_gene_variant PACA-CA 11 102184904 102184904 insertion of <=200bp - A upstream_gene_variant PACA-CA 11 102187771 102187771 single base substitution A T upstream_gene_variant PACA-CA 11 102195795 102195795 single base substitution G A downstream_gene_variant PACA-CA 11 102195795 102195795 single base substitution G A synonymous_variant S185S 555G>A PACA-CA 11 102195795 102195795 single base substitution G A upstream_gene_variant PACA-CA 11 102196952 102196952 single base substitution T C downstream_gene_variant PACA-CA 11 102196952 102196952 single base substitution T C intron_variant PACA-CA 11 102197588 102197588 single base substitution C T downstream_gene_variant PACA-CA 11 102197588 102197588 single base substitution C T intron_variant PACA-CA 11 102197588 102197588 single base substitution C T splice_region_variant PACA-CA 11 102200315 102200315 single base substitution C T intron_variant PACA-CA 11 102202071 102202071 single base substitution C G downstream_gene_variant PACA-CA 11 102202071 102202071 single base substitution C G intron_variant PACA-CA 11 102202322 102202322 single base substitution A T downstream_gene_variant PACA-CA 11 102202322 102202322 single base substitution A T intron_variant PACA-CA 11 102202322 102202322 single base substitution A T upstream_gene_variant PACA-CA 11 102203289 102203289 single base substitution A G downstream_gene_variant PACA-CA 11 102203289 102203289 single base substitution A G intron_variant PACA-CA 11 102203289 102203289 single base substitution A G upstream_gene_variant PACA-CA 11 102203990 102203990 single base substitution T C downstream_gene_variant PACA-CA 11 102203990 102203990 single base substitution T C intron_variant PACA-CA 11 102203990 102203990 single base substitution T C upstream_gene_variant PACA-CA 11 102204524 102204524 single base substitution C T downstream_gene_variant PACA-CA 11 102204524 102204524 single base substitution C T intron_variant PACA-CA 11 102204524 102204524 single base substitution C T upstream_gene_variant PACA-CA 11 102207532 102207532 single base substitution G T missense_variant D541Y 1621G>T PACA-CA 11 102207532 102207532 single base substitution G T splice_region_variant PAEN-IT 11 102200638 102200638 single base substitution G T intron_variant PBCA-DE 11 102186410 102186410 single base substitution C T upstream_gene_variant PBCA-DE 11 102188342 102188342 single base substitution G A intron_variant PBCA-DE 11 102192615 102192615 single base substitution C T 5_prime_UTR_variant PBCA-DE 11 102192615 102192615 single base substitution C T exon_variant PBCA-DE 11 102192615 102192615 single base substitution C T upstream_gene_variant PBCA-DE 11 102195854 102195854 single base substitution G T downstream_gene_variant PBCA-DE 11 102195854 102195854 single base substitution G T missense_variant C205F 614G>T PBCA-DE 11 102195854 102195854 single base substitution G T upstream_gene_variant PBCA-DE 11 102195925 102195925 single base substitution T G downstream_gene_variant PBCA-DE 11 102195925 102195925 single base substitution T G missense_variant F229V 685T>G PBCA-DE 11 102195925 102195925 single base substitution T G upstream_gene_variant PBCA-DE 11 102201905 102201905 single base substitution C T downstream_gene_variant PBCA-DE 11 102201905 102201905 single base substitution C T synonymous_variant D419D 1257C>T PBCA-DE 11 102203981 102203981 deletion of <=200bp T - downstream_gene_variant PBCA-DE 11 102203981 102203981 deletion of <=200bp T - intron_variant PBCA-DE 11 102203981 102203981 deletion of <=200bp T - upstream_gene_variant PRAD-CA 11 102198642 102198642 single base substitution G A intron_variant PRAD-UK 11 102190802 102190802 single base substitution G A intron_variant PRAD-UK 11 102192140 102192140 single base substitution T C intron_variant PRAD-UK 11 102192140 102192140 single base substitution T C upstream_gene_variant RECA-EU 11 102189953 102189953 single base substitution T G intron_variant RECA-EU 11 102191749 102191749 single base substitution T G intron_variant RECA-EU 11 102191749 102191749 single base substitution T G upstream_gene_variant RECA-EU 11 102191780 102191780 single base substitution A T intron_variant RECA-EU 11 102191780 102191780 single base substitution A T upstream_gene_variant SKCA-BR 11 102186667 102186667 single base substitution G A upstream_gene_variant SKCA-BR 11 102195083 102195083 single base substitution T G 5_prime_UTR_variant SKCA-BR 11 102195083 102195083 single base substitution T G downstream_gene_variant SKCA-BR 11 102195083 102195083 single base substitution T G intron_variant SKCA-BR 11 102195083 102195083 single base substitution T G upstream_gene_variant SKCA-BR 11 102196872 102196872 single base substitution C T downstream_gene_variant SKCA-BR 11 102196872 102196872 single base substitution C T intron_variant SKCA-BR 11 102208816 102208816 single base substitution G A 3_prime_UTR_variant SKCA-BR 11 102208816 102208816 single base substitution G A downstream_gene_variant SKCA-BR 11 102210282 102210282 single base substitution G A downstream_gene_variant SKCA-BR 11 102213037 102213037 insertion of <=200bp - CTA downstream_gene_variant SKCA-BR 11 102213041 102213041 single base substitution G A downstream_gene_variant SKCA-BR 11 102213075 102213075 single base substitution G A downstream_gene_variant SKCA-BR 11 102214483 102214483 single base substitution T A downstream_gene_variant SKCM-US 11 102195416 102195416 single base substitution G C downstream_gene_variant SKCM-US 11 102195416 102195416 single base substitution G C missense_variant G59A 176G>C SKCM-US 11 102195416 102195416 single base substitution G C upstream_gene_variant SKCM-US 11 102195665 102195665 single base substitution C T downstream_gene_variant SKCM-US 11 102195665 102195665 single base substitution C T missense_variant P142L 425C>T SKCM-US 11 102195665 102195665 single base substitution C T upstream_gene_variant SKCM-US 11 102195745 102195745 single base substitution G A downstream_gene_variant SKCM-US 11 102195745 102195745 single base substitution G A missense_variant E169K 505G>A SKCM-US 11 102195745 102195745 single base substitution G A upstream_gene_variant SKCM-US 11 102196011 102196011 single base substitution C T downstream_gene_variant SKCM-US 11 102196011 102196011 single base substitution C T synonymous_variant A20A 60C>T SKCM-US 11 102196011 102196011 single base substitution C T synonymous_variant A257A 771C>T SKCM-US 11 102198822 102198822 single base substitution C T synonymous_variant I135I 405C>T SKCM-US 11 102198822 102198822 single base substitution C T synonymous_variant I331I 993C>T SKCM-US 11 102201741 102201741 single base substitution G A missense_variant E169K 505G>A SKCM-US 11 102201741 102201741 single base substitution G A missense_variant E365K 1093G>A SKCM-US 11 102201752 102201752 single base substitution A G synonymous_variant E172E 516A>G SKCM-US 11 102201752 102201752 single base substitution A G synonymous_variant E368E 1104A>G SKCM-US 11 102207520 102207520 single base substitution G A exon_variant SKCM-US 11 102207520 102207520 single base substitution G A missense_variant E537K 1609G>A SKCM-US 11 102207729 102207729 single base substitution C T exon_variant SKCM-US 11 102207729 102207729 single base substitution C T missense_variant P571S 1711C>T SKCM-US 11 102207793 102207793 single base substitution G A exon_variant SKCM-US 11 102207793 102207793 single base substitution G A missense_variant R592K 1775G>A STAD-US 11 102195339 102195339 single base substitution G C downstream_gene_variant STAD-US 11 102195339 102195339 single base substitution G C missense_variant M33I 99G>C STAD-US 11 102195339 102195339 single base substitution G C upstream_gene_variant STAD-US 11 102195491 102195491 deletion of <=200bp A - downstream_gene_variant STAD-US 11 102195491 102195491 deletion of <=200bp A - frameshift_variant E84 STAD-US 11 102195491 102195491 deletion of <=200bp A - upstream_gene_variant STAD-US 11 102195543 102195543 single base substitution C T downstream_gene_variant STAD-US 11 102195543 102195543 single base substitution C T synonymous_variant S101S 303C>T STAD-US 11 102195543 102195543 single base substitution C T upstream_gene_variant STAD-US 11 102195592 102195592 single base substitution A T downstream_gene_variant STAD-US 11 102195592 102195592 single base substitution A T missense_variant T118S 352A>T STAD-US 11 102195592 102195592 single base substitution A T upstream_gene_variant STAD-US 11 102195668 102195668 single base substitution C T downstream_gene_variant STAD-US 11 102195668 102195668 single base substitution C T missense_variant S143L 428C>T STAD-US 11 102195668 102195668 single base substitution C T upstream_gene_variant STAD-US 11 102196012 102196012 single base substitution C T downstream_gene_variant STAD-US 11 102196012 102196012 single base substitution C T missense_variant R21C 61C>T STAD-US 11 102196012 102196012 single base substitution C T missense_variant R258C 772C>T STAD-US 11 102196232 102196232 single base substitution G A downstream_gene_variant STAD-US 11 102196232 102196232 single base substitution G A missense_variant G297S 889G>A STAD-US 11 102196232 102196232 single base substitution G A missense_variant G60S 178G>A THCA-SA 11 102201850 102201850 single base substitution G A downstream_gene_variant THCA-SA 11 102201850 102201850 single base substitution G A missense_variant R401K 1202G>A UCEC-US 11 102195745 102195745 single base substitution G A downstream_gene_variant UCEC-US 11 102195745 102195745 single base substitution G A missense_variant E169K 505G>A UCEC-US 11 102195745 102195745 single base substitution G A upstream_gene_variant UCEC-US 11 102199655 102199655 single base substitution G T missense_variant D158Y 472G>T UCEC-US 11 102199655 102199655 single base substitution G T missense_variant D354Y 1060G>T UCEC-US 11 102201974 102201974 single base substitution T C downstream_gene_variant UCEC-US 11 102201974 102201974 single base substitution T C splice_donor_variant UCEC-US 11 102206702 102206702 single base substitution T G downstream_gene_variant UCEC-US 11 102206702 102206702 single base substitution T G missense_variant L444V 1330T>G UCEC-US 11 102206702 102206702 single base substitution T G upstream_gene_variant UCEC-US 11 102206738 102206738 single base substitution C A downstream_gene_variant UCEC-US 11 102206738 102206738 single base substitution C A missense_variant Q456K 1366C>A UCEC-US 11 102206738 102206738 single base substitution C A upstream_gene_variant UCEC-US 11 102206866 102206866 single base substitution G A synonymous_variant T498T 1494G>A UCEC-US 11 102206866 102206866 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand FR-CLL_3878 COSM5946197 c.? p.? Unknown S03-45671-TP COSM922221 c.505G>A p.E169K Substitution - Missense 11:102325014-102325014 + TCGA-37-3789-01 COSM685797 c.1102G>A p.E368K Substitution - Missense 11:102331019-102331019 + 12915 COSM1737955 c.1633G>T p.E545* Substitution - Nonsense 11:102336920-102336920 + 2078020 COSM1735738 c.1328_1331delATTT p.L444fs*2 Deletion - Frameshift 11:102335969-102335972 + YUKAT COSM1704480 c.118C>T p.P40S Substitution - Missense 11:102324627-102324627 + FR-CLL_6550 COSM5946197 c.? p.? Unknown 2078031 COSM1735746 c.1801A>T p.T601S Substitution - Missense 11:102337088-102337088 + TCGA-D1-A176-01 COSM922219 c.217C>T p.L73L Substitution - coding silent 11:102324726-102324726 + S24-post COSM4167213 c.1772G>A p.C591Y Substitution - Missense 11:102337059-102337059 + 2213800 COSM1737961 c.1798C>G p.R600G Substitution - Missense 11:102337085-102337085 + TCGA-BR-8078-01 COSM922220 c.303C>T p.S101S Substitution - coding silent 11:102324812-102324812 + 2081332 COSM1737936 c.1_1815del1815 p.0? Whole gene deletion HCT15 COSM1676385 c.601G>T p.D201Y Substitution - Missense 11:102325110-102325110 + PT19_2 COSM5900200 c.1157T>C p.V386A Substitution - Missense 11:102331074-102331074 + 2213803 COSM1735754 c.1639_1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + S04-45633-TP COSM4990038 c.119C>T p.P40L Substitution - Missense 11:102324628-102324628 + 14462 COSM1737951 c.1609_1609delG p.E537fs*31 Deletion - Frameshift 11:102336789-102336789 + 2213809 COSM1739742 c.1654C>T p.Q552* Substitution - Nonsense 11:102336941-102336941 + 2213806 COSM4167209 c.1657_1666del10 p.E553fs*12 Deletion - Frameshift 11:102336944-102336953 + YUWIA COSM5371497 c.512C>T p.A171V Substitution - Missense 11:102325021-102325021 + TCGA-BS-A0TD-01 COSM922225 c.1366C>A p.Q456K Substitution - Missense 11:102336007-102336007 + T2944 COSM4665729 c.912_913delTG p.G305fs*2 Deletion - Frameshift 11:102325524-102325525 + 2081437 COSM1737936 c.1_1815del1815 p.0? Whole gene deletion 14462 COSM1737950 c.1282_1282delA p.R428fs*19 Deletion - Frameshift 11:102331199-102331199 + 2078036 COSM1735749 c.1319_1322delAATC p.S441fs*5 Deletion - Frameshift 11:102331236-102331239 + 10755 COSM1737958 c.1660G>T p.E554* Substitution - Nonsense 11:102336947-102336947 + CSCC-17-T COSM4526485 c.139G>A p.E47K Substitution - Missense 11:102324648-102324648 + Au3 COSM5601096 c.712C>T p.Q238* Substitution - Nonsense 11:102325221-102325221 + 2081435 COSM1737936 c.1_1815del1815 p.0? Whole gene deletion TCGA-BS-A0UV-01 COSM922223 c.1324+2T>C p.? Unknown 11:102331243-102331243 + C086 COSM4911134 c.1342C>T p.R448W Substitution - Missense 11:102335983-102335983 + LPJ023 COSM1315940 c.953G>C p.R318T Substitution - Missense 11:102325565-102325565 + 2213796 COSM1735754 c.1639_1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + 2078033 COSM1735739 c.1322C>G p.S441* Substitution - Nonsense 11:102331239-102331239 + TCGA-EW-A1PB-01 COSM1474943 c.1536_1537delCT p.L514fs*4 Deletion - Frameshift 11:102336177-102336178 + 13458 COSM4944044 c.1288_1289insG p.E430fs*8 Insertion - Frameshift 11:102331205-102331206 + T2944 COSM4665728 c.733T>A p.Y245N Substitution - Missense 11:102325242-102325242 + LUAD-F00282 COSM367076 c.92A>C p.Y31S Substitution - Missense 11:102324601-102324601 + HCT-15 COSM1676385 c.601G>T p.D201Y Substitution - Missense 11:102325110-102325110 + TCGA-AG-A002-01 COSM259635 c.20G>T p.S7I Substitution - Missense 11:102324529-102324529 + TCGA-EE-A3J5-06 COSM3442662 c.993C>T p.I331I Substitution - coding silent 11:102328091-102328091 + NJ-305 COSM4770732 c.1664_1666delGAA p.R555del Deletion - In frame 11:102336951-102336953 + pfg008T COSM1638720 c.1462A>C p.T488P Substitution - Missense 11:102336103-102336103 + SH-8559 COSM5020754 c.1202G>A p.R401K Substitution - Missense 11:102331119-102331119 + 2213797 COSM4167206 c.1085_1085delT p.I362fs*15 Deletion - Frameshift 11:102331002-102331002 + KMS-12PE COSM1737936 c.1_1815del1815 p.0? Whole gene deletion QC2-39-T2 COSM5655678 c.101C>G p.S34C Substitution - Missense 11:102324610-102324610 + TCGA-13-0884-01 COSM73837 c.743C>G p.S248C Substitution - Missense 11:102325252-102325252 + TCGA-ER-A19F-06 COSM3442664 c.1609G>A p.E537K Substitution - Missense 11:102336789-102336789 + ESO-859 COSM1238305 c.606A>G p.R202R Substitution - coding silent 11:102325115-102325115 + OSCC-GB_00220111 COSM3710075 c.1038A>G p.L346L Substitution - coding silent 11:102328902-102328902 + 2078026 COSM1735738 c.1328_1331delATTT p.L444fs*2 Deletion - Frameshift 11:102335969-102335972 + 2078029 COSM1735744 c.1385T>C p.I462T Substitution - Missense 11:102336026-102336026 + 2213807 COSM4167210 c.1538_1540CTC>T p.S513fs*5 Complex - frameshift 11:102336179-102336181 + PD8973a COSM5792284 c.1432G>C p.E478Q Substitution - Missense 11:102336073-102336073 + 2345624 COSM4777525 c.1673_1674delAA p.K558fs*34 Deletion - Frameshift 11:102336960-102336961 + TCGA-D1-A103-01 COSM922224 c.1330T>G p.L444V Substitution - Missense 11:102335971-102335971 + 2077200 COSM1735728 c.1638_1639insA p.Q547fs*12 Insertion - Frameshift 11:102336925-102336926 + 2345626 COSM4777527 c.359C>T p.S120F Substitution - Missense 11:102324868-102324868 + NJ-440 COSM4770731 c.1295_1298delGAGA p.R432fs*14 Deletion - Frameshift 11:102331212-102331215 + CSCC-27-T COSM4459438 c.1125C>T p.I375I Substitution - coding silent 11:102331042-102331042 + TCGA-41-3393-01 COSM3397353 c.169T>C p.Y57H Substitution - Missense 11:102324678-102324678 + 2078018 COSM1735741 c.166T>A p.Y56N Substitution - Missense 11:102324675-102324675 + M009 COSM1739742 c.1654C>T p.Q552* Substitution - Nonsense 11:102336941-102336941 + FR-CLL_12632 COSM5946197 c.? p.? Unknown 2345625 COSM4777526 c.1666_1666delA p.T556fs*12 Deletion - Frameshift 11:102336953-102336953 + LP6005500-DNA_F02 COSM5037063 c.940A>G p.K314E Substitution - Missense 11:102325552-102325552 + TCGA-A7-A13E-01 COSM3808179 c.1508G>A p.G503E Substitution - Missense 11:102336149-102336149 + 22T COSM3710075 c.1038A>G p.L346L Substitution - coding silent 11:102328902-102328902 + 2139710 COSM3724457 c.? p.R434fs*10 Unknown FR-CLL_12568 COSM5946197 c.? p.? Unknown 2078030 COSM1735739 c.1322C>G p.S441* Substitution - Nonsense 11:102331239-102331239 + S24-pre COSM4167213 c.1772G>A p.C591Y Substitution - Missense 11:102337059-102337059 + 2081436 COSM1737936 c.1_1815del1815 p.0? Whole gene deletion KMS-18 COSM1737936 c.1_1815del1815 p.0? Whole gene deletion 11230 COSM1735754 c.1639_1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + ICGC_MB92 COSM3764270 c.685T>G p.F229V Substitution - Missense 11:102325194-102325194 + 723-03-2TD COSM5418949 c.1658_1659insA p.E554fs*5 Insertion - Frameshift 11:102336945-102336946 + 2309874 COSM1735725 c.1270G>T p.E424* Substitution - Nonsense 11:102331187-102331187 + TCGA-37-3789-01 COSM685796 c.1255G>C p.D419H Substitution - Missense 11:102331172-102331172 + TCGA-A7-A3IZ-01 COSM3808180 c.1763G>T p.C588F Substitution - Missense 11:102337050-102337050 + S03-45671-TP COSM4990040 c.1712C>T p.P571L Substitution - Missense 11:102336999-102336999 + 2213804 COSM4167208 c.1594_1598delAAATA p.K532fs*25 Deletion - Frameshift 11:102336774-102336778 + 11284 COSM1735754 c.1639_1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + YUKSI COSM5371495 c.13G>A p.E5K Substitution - Missense 11:102324522-102324522 + TCGA-EE-A183-06 COSM922221 c.505G>A p.E169K Substitution - Missense 11:102325014-102325014 + 2078019 COSM1735738 c.1328_1331delATTT p.L444fs*2 Deletion - Frameshift 11:102335969-102335972 + CSCC-10-T COSM4560191 c.833G>A p.S278N Substitution - Missense 11:102325342-102325342 + MZ7-mel COSM21789 c.890G>A p.G297D Substitution - Missense 11:102325502-102325502 + 2078025 COSM1735757 c.1796_1807del12 p.R600_L603del Deletion - In frame 11:102337083-102337094 + FR-CLL_12534 COSM5946197 c.? p.? Unknown 2077195 COSM1735726 c.1101_1132del32 p.E368fs*5 Deletion - Frameshift 11:102331018-102331049 + TCGA-D3-A1Q4-06 COSM3442665 c.1711C>T p.P571S Substitution - Missense 11:102336998-102336998 + 2077197 COSM1735725 c.1270G>T p.E424* Substitution - Nonsense 11:102331187-102331187 + LUAD-NYU1219 COSM369835 c.914G>T p.G305V Substitution - Missense 11:102325526-102325526 + 2077199 COSM1735727 c.1279_1280insA p.I427fs*11 Insertion - Frameshift 11:102331196-102331197 + RKO COSM4614644 c.357delT p.S120fs*27 Deletion - Frameshift 11:102324866-102324866 + 060-0123-01TD COSM5419186 c.1296_1297insT p.E433fs*1 Insertion - Frameshift 11:102331213-102331214 + pfg116T COSM4747686 c.982_1002del21 p.E329_Q335delEFIRQVQ Deletion - In frame 11:102328080-102328100 + 6070 COSM1737954 c.1313_1314delAA p.K439fs*4 Deletion - Frameshift 11:102331230-102331231 + NJ-191 COSM1735729 c.1663_1666delAGAA p.R555fs*12 Deletion - Frameshift 11:102336950-102336953 + 2078028 COSM1735743 c.1756A>T p.R586* Substitution - Nonsense 11:102337043-102337043 + ESCC_21 COSM5626190 c.1536C>G p.N512K Substitution - Missense 11:102336177-102336177 + 2078034 COSM1735754 c.1639_1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + 2078024 COSM1350362 c.1690G>T p.E564* Substitution - Nonsense 11:102336977-102336977 + pfg008T COSM1638720 c.1462A>C p.T488P Substitution - Missense 11:102336103-102336103 + 2078022 COSM1735751 c.1640_1640delA p.Q547fs*21 Deletion - Frameshift 11:102336927-102336927 + ATL037 COSM5418955 c.1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + ccRCC-80 COSM1665371 c.1332delA p.L444fs*3 Deletion - Frameshift 11:102335973-102335973 + YUROC COSM5371496 c.264G>A p.K88K Substitution - coding silent 11:102324773-102324773 + 2077203 COSM1735729 c.1663_1666delAGAA p.R555fs*12 Deletion - Frameshift 11:102336950-102336953 + BD242T COSM5495888 c.396A>C p.G132G Substitution - coding silent 11:102324905-102324905 + 8068563 COSM4388111 c.33A>C p.S11S Substitution - coding silent 11:102324542-102324542 + 2309844 COSM4745908 c.1282_1285delAGGG p.R428fs*18 Deletion - Frameshift 11:102331199-102331202 + TCGA-GF-A6C9-06 COSM4899955 c.176G>C p.G59A Substitution - Missense 11:102324685-102324685 + RMS105_ COSM4986061 c.958G>A p.E320K Substitution - Missense 11:102328056-102328056 + 11223 COSM1735759 c.1636G>T p.E546* Substitution - Nonsense 11:102336923-102336923 + 2081433 COSM1737936 c.1_1815del1815 p.0? Whole gene deletion 2077201 COSM1735728 c.1638_1639insA p.Q547fs*12 Insertion - Frameshift 11:102336925-102336926 + 2011-2371:2012-1300-T COSM4603822 c.564delT p.L189fs*9 Deletion - Frameshift 11:102325073-102325073 + 2081434 COSM1737936 c.1_1815del1815 p.0? Whole gene deletion 12857 COSM1735754 c.1639_1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + 2309859 COSM4745900 c.1796T>G p.V599G Substitution - Missense 11:102337083-102337083 + 2077196 COSM1737937 c.1183_1352del170 p.V395fs*16 Deletion - Frameshift 2077508 COSM1737938 c.?_?del? p.?fs Deletion - Frameshift 2078027 COSM1735742 c.1599T>G p.Y533* Substitution - Nonsense 11:102336779-102336779 + B80 COSM1746003 c.73G>T p.D25Y Substitution - Missense 11:102324582-102324582 + S13_post COSM5574432 c.1750_1751delTC p.S584fs*8 Deletion - Frameshift 11:102337037-102337038 + 2077202 COSM1735729 c.1663_1666delAGAA p.R555fs*12 Deletion - Frameshift 11:102336950-102336953 + Pat_41_B COSM5837661 c.220G>A p.D74N Substitution - Missense 11:102324729-102324729 + 2078016 COSM1735755 c.1317_1318AG>T p.K439fs*8 Complex - frameshift 11:102331234-102331235 + 33-RS COSM1731948 c.650C>T p.P217L Substitution - Missense 11:102325159-102325159 + S02296 COSM5689352 c.838G>T p.G280C Substitution - Missense 11:102325347-102325347 + 2078031 COSM1735745 c.1318G>T p.E440* Substitution - Nonsense 11:102331235-102331235 + TCGA-CA-6718-01 COSM1350362 c.1690G>T p.E564* Substitution - Nonsense 11:102336977-102336977 + YUKIL COSM1704480 c.118C>T p.P40S Substitution - Missense 11:102324627-102324627 + 9321 COSM1735728 c.1638_1639insA p.Q547fs*12 Insertion - Frameshift 11:102336925-102336926 + BN19 COSM1603943 c.1621+3A>G p.? Unknown 11:102336804-102336804 + 8667 COSM1737961 c.1798C>G p.R600G Substitution - Missense 11:102337085-102337085 + 3-RS COSM1731643 c.1162A>G p.M388V Substitution - Missense 11:102331079-102331079 + TCGA-AZ-6601-01 COSM922221 c.505G>A p.E169K Substitution - Missense 11:102325014-102325014 + TCGA-HF-7132-01 COSM4017240 c.352A>T p.T118S Substitution - Missense 11:102324861-102324861 + ESCC_BICR_033T COSM5439664 c.1376C>T p.T459I Substitution - Missense 11:102336017-102336017 + 6115114 COSM5557383 c.1783A>T p.I595F Substitution - Missense 11:102337070-102337070 + 2078035 COSM1735748 c.1710_1712delTCC p.P571del Deletion - In frame 11:102336997-102336999 + PTC-7C COSM4145183 c.1574T>G p.L525* Substitution - Nonsense 11:102336215-102336215 + C086 COSM5527362 c.1341C>T p.I447I Substitution - coding silent 11:102335982-102335982 + 2213808 COSM1735754 c.1639_1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + RK165_C01 COSM1627717 c.1622-1G>T p.? Unknown 11:102336908-102336908 + 13443 COSM1735754 c.1639_1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + 11233 COSM1350362 c.1690G>T p.E564* Substitution - Nonsense 11:102336977-102336977 + TCGA-AL-3473-01 COSM3985860 c.1442T>G p.V481G Substitution - Missense 11:102336083-102336083 + TCGA-BR-6455-01 COSM4017239 c.99G>C p.M33I Substitution - Missense 11:102324608-102324608 + S12-11594-TP COSM4990039 c.1697C>T p.S566F Substitution - Missense 11:102336984-102336984 + KMS-20 COSM1737936 c.1_1815del1815 p.0? Whole gene deletion 2213805 COSM4167205 c.1643_1643delT p.L548fs*20 Deletion - Frameshift 11:102336930-102336930 + 2078034 COSM1735747 c.1718G>A p.G573D Substitution - Missense 11:102337005-102337005 + FR-CLL_5977 COSM5946197 c.? p.? Unknown 9696 COSM1737950 c.1282_1282delA p.R428fs*19 Deletion - Frameshift 11:102331199-102331199 + 2078021 COSM1735750 c.1302_1303insG p.A435fs*3 Insertion - Frameshift 11:102331219-102331220 + B80-Tumor COSM1746003 c.73G>T p.D25Y Substitution - Missense 11:102324582-102324582 + RK071_C01 COSM1627718 c.1642T>C p.L548L Substitution - coding silent 11:102336929-102336929 + ESCC-D17 COSM5045643 c.2T>A p.M1K Substitution - Missense 11:102324511-102324511 + TCGA-JW-A5VL-01 COSM4847220 c.433C>G p.P145A Substitution - Missense 11:102324942-102324942 + TCGA-AP-A0LM-01 COSM922226 c.1494G>A p.T498T Substitution - coding silent 11:102336135-102336135 + S10-47754-TP COSM4990037 c.71A>T p.Y24F Substitution - Missense 11:102324580-102324580 + TCGA-E9-A5UP-01 COSM3808178 c.565C>G p.L189V Substitution - Missense 11:102325074-102325074 + TCGA-B5-A11E-01 COSM922221 c.505G>A p.E169K Substitution - Missense 11:102325014-102325014 + TCGA-BP-4161-01 COSM1135081 c.163T>C p.F55L Substitution - Missense 11:102324672-102324672 + 14281 COSM1235198 c.1281_1285delAAGGG p.E429fs*7 Deletion - Frameshift 11:102331198-102331202 + TCGA-CD-A489-01 COSM4017243 c.889G>A p.G297S Substitution - Missense 11:102325501-102325501 + 2078031 COSM1735756 c.1746_1799del54 p.P583_R600del Deletion - In frame 11:102337033-102337086 + SNUH_G26_S1 COSM3998183 c.1200G>A p.Q400Q Substitution - coding silent 11:102331117-102331117 + 9482 COSM1737952 c.1281_1290del10 p.I427fs*17 Deletion - Frameshift 11:102331198-102331207 + TCGA-EE-A29Q-06 COSM3442660 c.425C>T p.P142L Substitution - Missense 11:102324934-102324934 + KMS-28PE COSM1737936 c.1_1815del1815 p.0? Whole gene deletion 2078032 COSM1735753 c.1267_1268insCAGA p.E424fs*4 Insertion - Frameshift 11:102331184-102331185 + TCGA-B5-A0JY-01 COSM922222 c.1060G>T p.D354Y Substitution - Missense 11:102328924-102328924 + pfg065T COSM4759539 c.1571A>C p.H524P Substitution - Missense 11:102336212-102336212 + 9227_T COSM5039716 c.394G>A p.G132R Substitution - Missense 11:102324903-102324903 + 2213802 COSM4167213 c.1772G>A p.C591Y Substitution - Missense 11:102337059-102337059 + 2213798 COSM4167212 c.1295_1296insG p.E433fs*5 Insertion - Frameshift 11:102331212-102331213 + S27_post COSM4167214 c.1762T>A p.C588S Substitution - Missense 11:102337049-102337049 + TCGA-BR-8487-01 COSM4017241 c.428C>T p.S143L Substitution - Missense 11:102324937-102324937 + 2077198 COSM1735727 c.1279_1280insA p.I427fs*11 Insertion - Frameshift 11:102331196-102331197 + TCGA-A6-3809-01 COSM1350355 c.343T>G p.S115A Substitution - Missense 11:102324852-102324852 + 2213801 COSM4167216 c.1622-25_1622-5del p.? Unknown 11:102336884-102336904 + FR-CLL_12542 COSM5946197 c.? p.? Unknown 2077197 COSM1737937 c.1183_1352del170 p.V395fs*16 Deletion - Frameshift 2081438 COSM1737936 c.1_1815del1815 p.0? Whole gene deletion 2078031 COSM1735754 c.1639_1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + 2309888 COSM4745899 c.1285_1286insG p.E429fs*9 Insertion - Frameshift 11:102331202-102331203 + 723-03-2TD COSM5418955 c.1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + TCGA-BP-4807-01 COSM3358979 c.1364T>G p.F455C Substitution - Missense 11:102336005-102336005 + 2213795 COSM4167205 c.1643_1643delT p.L548fs*20 Deletion - Frameshift 11:102336930-102336930 + TCGA-EE-A2GR-06 COSM3442663 c.1104A>G p.E368E Substitution - coding silent 11:102331021-102331021 + 138-03-2TD COSM1235198 c.1281_1285delAAGGG p.E429fs*7 Deletion - Frameshift 11:102331198-102331202 + 2139711 COSM3724455 c.1754T>A p.L585* Substitution - Nonsense 11:102337041-102337041 + 2213803 COSM4167215 c.1350_1351insT p.R451fs*1 Insertion - Frameshift 11:102335991-102335992 + 10471 COSM1737957 c.1658_1661delAAGA p.R555fs*12 Deletion - Frameshift 11:102336945-102336948 + TCGA-DK-A3IS-01 COSM1297565 c.446G>C p.R149T Substitution - Missense 11:102324955-102324955 + SNUH_G73_S1 COSM3998183 c.1200G>A p.Q400Q Substitution - coding silent 11:102331117-102331117 + 2213799 COSM4167207 c.1598_1615>GTGGGAAT p.Y533fs*32 Complex - frameshift 11:102336778-102336795 + 2139712 COSM3724456 c.1708_1710delATT p.I570del Deletion - In frame 11:102336995-102336997 + 12914 COSM1737959 c.1672A>G p.K558E Substitution - Missense 11:102336959-102336959 + TCGA-24-1469-01 COSM80916 c.369A>G p.S123S Substitution - coding silent 11:102324878-102324878 + T3024 COSM1474943 c.1536_1537delCT p.L514fs*4 Deletion - Frameshift 11:102336177-102336178 + TCGA-23-1110-01 COSM69820 c.1607C>G p.T536R Substitution - Missense 11:102336787-102336787 + 154T COSM5576316 c.1480_1484delGAACT p.E494fs*2 Deletion - Frameshift 11:102336121-102336125 + PM-4 COSM5619839 c.144G>C p.R48S Substitution - Missense 11:102324653-102324653 + FR-CLL_5610 COSM5946197 c.? p.? Unknown 11255 COSM1735760 c.956G>A p.C319Y Substitution - Missense 11:102328054-102328054 + TCGA-BR-4362-01 COSM4017242 c.772C>T p.R258C Substitution - Missense 11:102325281-102325281 + 12684 COSM1737953 c.1284_1288delGGAAG p.E429fs*7 Deletion - Frameshift 11:102331201-102331205 + 407 COSM3733252 c.82T>C p.C28R Substitution - Missense 11:102324591-102324591 + CSCC-20-T COSM4505595 c.697C>A p.P233T Substitution - Missense 11:102325206-102325206 + 2077196 COSM1735725 c.1270G>T p.E424* Substitution - Nonsense 11:102331187-102331187 + 13718 COSM1737956 c.1641_1641delA p.Q547fs*21 Deletion - Frameshift 11:102336928-102336928 + TCGA-B5-A0K6-01 COSM922220 c.303C>T p.S101S Substitution - coding silent 11:102324812-102324812 + TCGA-FW-A3R5-06 COSM3868270 c.1093G>A p.E365K Substitution - Missense 11:102331010-102331010 + AOCS-125-1-2 COSM3981241 c.1632G>T p.V544V Substitution - coding silent 11:102336919-102336919 + TCGA-A6-6142-01 COSM5091349 c.966G>T p.L322F Substitution - Missense 11:102328064-102328064 + FR-CLL_6496 COSM5946197 c.? p.? Unknown YUDUTY COSM922221 c.505G>A p.E169K Substitution - Missense 11:102325014-102325014 + 5114 COSM1737956 c.1641_1641delA p.Q547fs*21 Deletion - Frameshift 11:102336928-102336928 + BN19T COSM1603943 c.1621+3A>G p.? Unknown 11:102336804-102336804 + KMS-18 COSM1737936 c.1_1815del1815 p.0? Whole gene deletion 11223 COSM1735759 c.1636G>T p.E546* Substitution - Nonsense 11:102336923-102336923 + 6867 COSM1731643 c.1162A>G p.M388V Substitution - Missense 11:102331079-102331079 + Au4 COSM5602904 c.1336T>A p.L446I Substitution - Missense 11:102335977-102335977 + SNUH_G16_S1 COSM3998183 c.1200G>A p.Q400Q Substitution - coding silent 11:102331117-102331117 + BK0098 COSM4189024 c.873A>C p.K291N Substitution - Missense 11:102325485-102325485 + 2078016 COSM1735739 c.1322C>G p.S441* Substitution - Nonsense 11:102331239-102331239 + TCGA-EE-A29D-06 COSM3442666 c.1775G>A p.R592K Substitution - Missense 11:102337062-102337062 + 2077509 COSM1735730 c.1659_1662delAGAA p.R555fs*12 Deletion - Frameshift 11:102336946-102336949 + 7426 COSM1735758 c.1283_1287delGGGAA p.E429fs*7 Deletion - Frameshift 11:102331200-102331204 + NJ-158 COSM4997500 c.1299_1300delAA p.R434fs*3 Deletion - Frameshift 11:102331216-102331217 + TCGA-CK-4951-01 COSM5147714 c.635T>C p.L212S Substitution - Missense 11:102325144-102325144 + 14311 COSM1737952 c.1281_1290del10 p.I427fs*17 Deletion - Frameshift 11:102331198-102331207 + 17D COSM1235198 c.1281_1285delAAGGG p.E429fs*7 Deletion - Frameshift 11:102331198-102331202 + S13_pre COSM5574432 c.1750_1751delTC p.S584fs*8 Deletion - Frameshift 11:102337037-102337038 + 2078017 COSM1735740 c.1679G>C p.C560S Substitution - Missense 11:102336966-102336966 + 11230 COSM1735754 c.1639_1639delC p.Q547fs*21 Deletion - Frameshift 11:102336926-102336926 + 2213803 COSM4167214 c.1762T>A p.C588S Substitution - Missense 11:102337049-102337049 + 2213810 COSM4167211 c.1692_1692delA p.V565fs*3 Deletion - Frameshift 11:102336979-102336979 + 2077194 COSM1735726 c.1101_1132del32 p.E368fs*5 Deletion - Frameshift 11:102331018-102331049 + TCGA-AA-3821-01 COSM294168 c.1414G>A p.G472R Substitution - Missense 11:102336055-102336055 + M019 COSM1739751 c.1742G>A p.C581Y Substitution - Missense 11:102337029-102337029 + TCGA-CJ-4923-01 COSM466204 c.1327G>A p.D443N Substitution - Missense 11:102335968-102335968 + NJ-290 COSM4770731 c.1295_1298delGAGA p.R432fs*14 Deletion - Frameshift 11:102331212-102331215 + TCGA-CK-4951-01 COSM5147713 c.230A>G p.K77R Substitution - Missense 11:102324739-102324739 + 2345627 COSM4777528 c.1586A>T p.Q529L Substitution - Missense 11:102336766-102336766 + 2078023 COSM1735752 c.1307_1307delC p.T436fs*11 Deletion - Frameshift 11:102331224-102331224 + PC-9ER COSM1684943 c.710A>T p.N237I Substitution - Missense 11:102325219-102325219 + TCGA-G3-A25U-01 COSM4911134 c.1342C>T p.R448W Substitution - Missense 11:102335983-102335983 + TCGA-34-5928-01 COSM685795 c.1646G>A p.R549Q Substitution - Missense 11:102336933-102336933 + 12904 COSM1737960 c.1747_1780del34 p.P583fs*12 Deletion - Frameshift 11:102337034-102337067 + TCGA-AA-A010-01 COSM279163 c.832A>C p.S278R Substitution - Missense 11:102325341-102325341 + CSCC-56-T COSM4552882 c.574G>A p.A192T Substitution - Missense 11:102325083-102325083 + TCGA-EB-A5UN-06 COSM3442661 c.771C>T p.A257A Substitution - coding silent 11:102325280-102325280 + 15001 COSM4944028 c.1716T>A p.C572* Substitution - Nonsense 11:102337003-102337003 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.127794;Hs.127799 11q22 601721

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAAACA - InFrameDeletion p.K396_Q397delKQ c.1185_1190delAAAACA 11 102201833 LUAD A C Missense p.T488P c.1462A>C 11 102206834 STAD A G 5-UTRSNV . c.1-1034A>G 11 102194207 DLBCL A G 5-UTRSNV . c.1-487A>G 11 102194754 HC A G 5-UTRSNV . c.1-769A>G 11 102194472 HC A G Missense p.I375V c.1123A>G 11 102201771 HNSC A G Synonymous p.E368E c.1104A>G 11 102201752 CM A G Synonymous p.R202R c.606A>G 11 102195846 ESCA A G Synonymous p.S123S c.369A>G 11 102195609 OV A T IntronicSNV . c.1033-19A>T 11 102199609 NSCLC C A Missense p.Q456K c.1366C>A 11 102206738 UCEC CAT - IntronicDeletion . c.1-3791_1-3789delCAT 11 102191450 CLL C G Missense p.S248C c.743C>G 11 102195983 OV C G Missense p.T536R c.1607C>G 11 102207518 OV C T 5-UTRSNV . c.1-2626C>T 11 102192615 MB CT - Frameshift p.L514Afs*4 c.1540_1541delCT 11 102206908 BRCA C T Missense p.P142L c.425C>T 11 102195665 CM C T Missense p.P571S c.1711C>T 11 102207729 CM C T Missense p.S161F c.482C>T 11 102195722 CM C T Nonsense p.Q400* c.1198C>T 11 102201846 LUAD C T Synonymous p.F95F c.285C>T 11 102195525 CM C T Synonymous p.I331I c.993C>T 11 102198822 CM C T Synonymous p.L270L c.808C>T 11 102196048 CM G A Missense p.D443N c.1327G>A 11 102206699 RCCC G A Missense p.D480N c.1438G>A 11 102206810 LUAD G A Missense p.E169K c.505G>A 11 102195745 CM G A Missense p.E368K c.1102G>A 11 102201750 LUSC G A Missense p.E537K c.1609G>A 11 102207520 CM G A Missense p.M158I c.474G>A 11 102195714 HNSC G A Missense p.R549Q c.1646G>A 11 102207664 LUSC G A Synonymous p.L157L c.471G>A 11 102195711 HNSC G C Missense p.D419H c.1255G>C 11 102201903 LUSC G C Missense p.E438Q c.1312G>C 11 102201960 CM G C Missense p.M33I c.99G>C 11 102195339 STAD G C Missense p.R149T c.446G>C 11 102195686 BLCA T C Missense p.Y57H c.169T>C 11 102195409 GBM T G Missense p.F229V c.685T>G 11 102195925 MB T G Missense p.F455C c.1364T>G 11 102206736 RCCC