Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 11 119234664 119234664 + Intron SNP G G C TCGA-OR-A5L9-01A-11D-A29I-10 TCGA-OR-A5L9-10B-01D-A29L-10 g.chr11:119234664G>C BLCA 11 119228216 119228216 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr11:119228216C>G c.1586G>C c.(1585-1587)aGa>aCa p.R529T BLCA 11 119228516 119228516 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr11:119228516C>A c.1452G>T c.(1450-1452)cgG>cgT p.R484R BLCA 11 119228517 119228517 + Missense_Mutation SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr11:119228517C>T c.1451G>A c.(1450-1452)cGg>cAg p.R484Q BLCA 11 119243762 119243762 + Silent SNP T T C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr11:119243762T>C c.429A>G c.(427-429)caA>caG p.Q143Q BLCA 11 119243857 119243857 + Missense_Mutation SNP C C T TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr11:119243857C>T c.334G>A c.(334-336)Gga>Aga p.G112R BLCA 11 119244114 119244114 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr11:119244114C>T c.77G>A c.(76-78)gGc>gAc p.G26D BLCA 11 119244116 119244116 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 g.chr11:119244116C>T c.75G>A c.(73-75)tcG>tcA p.S25S BRCA 11 119228515 119228515 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr11:119228515A>C c.1453T>G c.(1453-1455)Tgt>Ggt p.C485G BRCA 11 119228759 119228759 + Missense_Mutation SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr11:119228759C>T c.1354G>A c.(1354-1356)Gag>Aag p.E452K CHOL 11 119243852 119243852 + Silent SNP G G A TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr11:119243852G>A c.339C>T c.(337-339)ttC>ttT p.F113F COAD 11 119227939 119227939 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr11:119227939C>T c.1688G>A c.(1687-1689)cGc>cAc p.R563H COAD 11 119227949 119227949 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr11:119227949C>T c.1678G>A c.(1678-1680)Gcc>Acc p.A560T COAD 11 119228470 119228470 + Missense_Mutation SNP G G A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr11:119228470G>A c.1498C>T c.(1498-1500)Ctc>Ttc p.L500F COAD 11 119229958 119229958 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:119229958C>T c.1044G>A c.(1042-1044)ccG>ccA p.P348P COAD 11 119234591 119234591 + Intron SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr11:119234591T>C COAD 11 119243463 119243463 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr11:119243463T>C c.728A>G c.(727-729)cAg>cGg p.Q243R COAD 11 119243487 119243487 + Missense_Mutation SNP G G A TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr11:119243487G>A c.704C>T c.(703-705)aCg>aTg p.T235M COAD 11 119243667 119243667 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr11:119243667G>A c.524C>T c.(523-525)aCg>aTg p.T175M COAD 11 119243717 119243717 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr11:119243717G>A c.474C>T c.(472-474)agC>agT p.S158S COAD 11 119243741 119243741 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr11:119243741G>T c.450C>A c.(448-450)ttC>ttA p.F150L COAD 11 119243904 119243904 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:119243904G>A c.287C>T c.(286-288)aCc>aTc p.T96I COADREAD 11 119227939 119227939 + Missense_Mutation SNP C C T TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr11:119227939C>T c.1688G>A c.(1687-1689)cGc>cAc p.R563H COADREAD 11 119227949 119227949 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr11:119227949C>T c.1678G>A c.(1678-1680)Gcc>Acc p.A560T COADREAD 11 119228214 119228214 + Nonsense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr11:119228214C>A c.1588G>T c.(1588-1590)Gaa>Taa p.E530* COADREAD 11 119228470 119228470 + Missense_Mutation SNP G G A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr11:119228470G>A c.1498C>T c.(1498-1500)Ctc>Ttc p.L500F COADREAD 11 119229958 119229958 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr11:119229958C>T c.1044G>A c.(1042-1044)ccG>ccA p.P348P COADREAD 11 119230287 119230288 + Missense_Mutation DNP GT GT TG TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr11:119230287_119230288GT>TG c.908_909AC>CA c.(907-909)gAC>gCA p.D303A COADREAD 11 119234591 119234591 + Intron SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr11:119234591T>C COADREAD 11 119243463 119243463 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr11:119243463T>C c.728A>G c.(727-729)cAg>cGg p.Q243R COADREAD 11 119243487 119243487 + Missense_Mutation SNP G G A TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr11:119243487G>A c.704C>T c.(703-705)aCg>aTg p.T235M COADREAD 11 119243667 119243667 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr11:119243667G>A c.524C>T c.(523-525)aCg>aTg p.T175M COADREAD 11 119243717 119243717 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr11:119243717G>A c.474C>T c.(472-474)agC>agT p.S158S COADREAD 11 119243741 119243741 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr11:119243741G>T c.450C>A c.(448-450)ttC>ttA p.F150L COADREAD 11 119243904 119243904 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:119243904G>A c.287C>T c.(286-288)aCc>aTc p.T96I DLBC 11 119243612 119243612 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr11:119243612T>C c.579A>G c.(577-579)gaA>gaG p.E193E DLBC 11 119243912 119243912 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr11:119243912C>T c.279G>A c.(277-279)gaG>gaA p.E93E ESCA 11 119228536 119228536 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 g.chr11:119228536G>A c.1432C>T c.(1432-1434)Cgc>Tgc p.R478C ESCA 11 119234618 119234618 + Intron SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr11:119234618G>T ESCA 11 119243625 119243625 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 g.chr11:119243625G>A c.566C>T c.(565-567)gCc>gTc p.A189V GBM 11 119229846 119229846 + Splice_Site DEL T T - TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 g.chr11:119229846delT c.e6-2 GBMLGG 11 119229791 119229791 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:119229791T>C c.1115A>G c.(1114-1116)gAg>gGg p.E372G GBMLGG 11 119229846 119229846 + Splice_Site DEL T T - TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 g.chr11:119229846delT c.e6-2 HNSC 11 119229766 119229766 + Silent SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr11:119229766A>T c.1140T>A c.(1138-1140)ccT>ccA p.P380P HNSC 11 119243870 119243870 + Silent SNP G G T TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr11:119243870G>T c.321C>A c.(319-321)ctC>ctA p.L107L KIPAN 11 119229755 119229755 + Missense_Mutation SNP G G T TCGA-DV-5575-01A-01D-1534-10 TCGA-DV-5575-10A-01D-1535-10 g.chr11:119229755G>T c.1151C>A c.(1150-1152)cCt>cAt p.P384H KIPAN 11 119229962 119229962 + Missense_Mutation SNP G G A TCGA-CZ-4866-01A-01D-1501-10 TCGA-CZ-4866-11A-01D-1501-10 g.chr11:119229962G>A c.1040C>T c.(1039-1041)gCa>gTa p.A347V KIPAN 11 119243611 119243611 + Missense_Mutation SNP A A G TCGA-CJ-5683-01A-11D-1534-10 TCGA-CJ-5683-11A-01D-1535-10 g.chr11:119243611A>G c.580T>C c.(580-582)Tac>Cac p.Y194H KIRC 11 119229755 119229755 + Missense_Mutation SNP G G T TCGA-DV-5575-01A-01D-1534-10 TCGA-DV-5575-10A-01D-1535-10 g.chr11:119229755G>T c.1151C>A c.(1150-1152)cCt>cAt p.P384H KIRC 11 119229962 119229962 + Missense_Mutation SNP G G A TCGA-CZ-4866-01A-01D-1501-10 TCGA-CZ-4866-11A-01D-1501-10 g.chr11:119229962G>A c.1040C>T c.(1039-1041)gCa>gTa p.A347V KIRC 11 119243611 119243611 + Missense_Mutation SNP A A G TCGA-CJ-5683-01A-11D-1534-10 TCGA-CJ-5683-11A-01D-1535-10 g.chr11:119243611A>G c.580T>C c.(580-582)Tac>Cac p.Y194H LGG 11 119229791 119229791 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:119229791T>C c.1115A>G c.(1114-1116)gAg>gGg p.E372G LIHC 11 119228005 119228005 + Missense_Mutation SNP T T C TCGA-CC-A7IE-01A-21D-A382-10 TCGA-CC-A7IE-10A-01D-A385-10 g.chr11:119228005T>C c.1622A>G c.(1621-1623)tAc>tGc p.Y541C LIHC 11 119228275 119228275 + Silent SNP C C T TCGA-NI-A4U2-01A-11D-A28X-10 TCGA-NI-A4U2-10A-01D-A28X-10 g.chr11:119228275C>T c.1527G>A c.(1525-1527)agG>agA p.R509R LIHC 11 119243702 119243707 + In_Frame_Del DEL GGGGTC GGGGTC - TCGA-DD-AACJ-01A-11D-A40R-10 TCGA-DD-AACJ-10A-01D-A40U-10 g.chr11:119243702_119243707delGGGGTC c.484_489delGACCCC c.(484-489)gaccccdel p.DP162del LIHC 11 119243744 119243744 + Silent SNP A A G TCGA-DD-AACG-01A-11D-A40R-10 TCGA-DD-AACG-10A-01D-A40U-10 g.chr11:119243744A>G c.447T>C c.(445-447)gaT>gaC p.D149D LUAD 11 119227556 119227556 + Frame_Shift_Del DEL A A - TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 g.chr11:119227556delA c.1807delT c.(1807-1809)tccfs p.S603fs LUAD 11 119228471 119228471 + Silent SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr11:119228471C>A c.1497G>T c.(1495-1497)gtG>gtT p.V499V LUAD 11 119230296 119230296 + Silent SNP G G A TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr11:119230296G>A c.900C>T c.(898-900)taC>taT p.Y300Y LUAD 11 119243549 119243549 + Missense_Mutation SNP C C A TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr11:119243549C>A c.642G>T c.(640-642)caG>caT p.Q214H LUAD 11 119243829 119243829 + Missense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr11:119243829C>T c.362G>A c.(361-363)tGc>tAc p.C121Y LUAD 11 119244128 119244128 + Missense_Mutation SNP G G C TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr11:119244128G>C c.63C>G c.(61-63)caC>caG p.H21Q LUSC 11 119243758 119243758 + Missense_Mutation SNP C C T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr11:119243758C>T c.433G>A c.(433-435)Gac>Aac p.D145N OV 11 119227995 119227995 + Silent SNP G G A TCGA-61-2111-01A-01W-0722-08 TCGA-61-2111-11A-01W-0723-08 g.chr11:119227995G>A c.1632C>T c.(1630-1632)taC>taT p.Y544Y OV 11 119228300 119228300 + Splice_Site SNP T T C TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 g.chr11:119228300T>C c.1502A>G c.(1501-1503)cAt>cGt p.H501R OV 11 119229841 119229841 + Missense_Mutation SNP C C G TCGA-13-0883-01A-02W-0420-08 TCGA-13-0883-10A-01D-0399-08 g.chr11:119229841C>G c.1065G>C c.(1063-1065)caG>caC p.Q355H OV 11 119243866 119243866 + Missense_Mutation SNP C C T TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 g.chr11:119243866C>T c.325G>A c.(325-327)Ggg>Agg p.G109R PAAD 11 119230302 119230302 + Missense_Mutation SNP C C A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr11:119230302C>A c.894G>T c.(892-894)agG>agT p.R298S PAAD 11 119243427 119243427 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:119243427C>A c.764G>T c.(763-765)aGa>aTa p.R255I PAAD 11 119243920 119243920 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 g.chr11:119243920G>A c.271C>T c.(271-273)Cgg>Tgg p.R91W PAAD 11 119244150 119244150 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:119244150G>A c.41C>T c.(40-42)tCg>tTg p.S14L PRAD 11 119227592 119227592 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 g.chr11:119227592C>T c.1771G>A c.(1771-1773)Gcc>Acc p.A591T PRAD 11 119228895 119228895 + Silent SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 g.chr11:119228895G>A c.1305C>T c.(1303-1305)ttC>ttT p.F435F PRAD 11 119243942 119243942 + Silent SNP G G A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 g.chr11:119243942G>A c.249C>T c.(247-249)ccC>ccT p.P83P READ 11 119228214 119228214 + Nonsense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr11:119228214C>A c.1588G>T c.(1588-1590)Gaa>Taa p.E530* READ 11 119230287 119230288 + Missense_Mutation DNP GT GT TG TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr11:119230287_119230288GT>TG c.908_909AC>CA c.(907-909)gAC>gCA p.D303A SKCM 11 119228237 119228237 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr11:119228237G>A c.1565C>T c.(1564-1566)cCc>cTc p.P522L SKCM 11 119228485 119228485 + Missense_Mutation SNP G G A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr11:119228485G>A c.1483C>T c.(1483-1485)Cca>Tca p.P495S SKCM 11 119228486 119228486 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:119228486G>A c.1482C>T c.(1480-1482)ttC>ttT p.F494F SKCM 11 119229734 119229734 + Splice_Site SNP G G A TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr11:119229734G>A c.1172C>T c.(1171-1173)cCt>cTt p.P391L SKCM 11 119229735 119229735 + Splice_Site SNP G G A TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr11:119229735G>A c.1171C>T c.(1171-1173)Cct>Tct p.P391S SKCM 11 119229819 119229819 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr11:119229819G>A c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C SKCM 11 119229960 119229960 + Missense_Mutation SNP G G A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr11:119229960G>A c.1042C>T c.(1042-1044)Ccg>Tcg p.P348S SKCM 11 119229968 119229968 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr11:119229968C>T c.1034G>A c.(1033-1035)aGa>aAa p.R345K SKCM 11 119243660 119243660 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr11:119243660C>T c.531G>A c.(529-531)aaG>aaA p.K177K SKCM 11 119243689 119243689 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr11:119243689G>A c.502C>T c.(502-504)Cgc>Tgc p.R168C SKCM 11 119243747 119243747 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr11:119243747C>T c.444G>A c.(442-444)cgG>cgA p.R148R SKCM 11 119244029 119244029 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr11:119244029G>A c.162C>T c.(160-162)gtC>gtT p.V54V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 11 119228516 119228516 single base substitution C A downstream_gene_variant BLCA-US 11 119228516 119228516 single base substitution C A synonymous_variant R241R 723G>T BLCA-US 11 119228516 119228516 single base substitution C A synonymous_variant R275R 825G>T BLCA-US 11 119228516 119228516 single base substitution C A synonymous_variant R484R 1452G>T BLCA-US 11 119244114 119244114 single base substitution C T intron_variant BLCA-US 11 119244114 119244114 single base substitution C T missense_variant G26D 77G>A BRCA-EU 11 119222470 119222470 single base substitution T C downstream_gene_variant BRCA-EU 11 119223429 119223429 single base substitution C G downstream_gene_variant BRCA-EU 11 119223665 119223665 single base substitution C T downstream_gene_variant BRCA-EU 11 119223838 119223838 single base substitution G C downstream_gene_variant BRCA-EU 11 119224039 119224039 single base substitution C T downstream_gene_variant BRCA-EU 11 119224105 119224105 single base substitution C G downstream_gene_variant BRCA-EU 11 119225933 119225933 single base substitution C T 3_prime_UTR_variant BRCA-EU 11 119225933 119225933 single base substitution C T downstream_gene_variant BRCA-EU 11 119226433 119226433 single base substitution A G 3_prime_UTR_variant BRCA-EU 11 119226433 119226433 single base substitution A G downstream_gene_variant BRCA-EU 11 119232387 119232387 single base substitution G A intron_variant BRCA-EU 11 119232387 119232387 single base substitution G A upstream_gene_variant BRCA-EU 11 119232953 119232953 single base substitution T C intron_variant BRCA-EU 11 119232953 119232953 single base substitution T C upstream_gene_variant BRCA-EU 11 119234025 119234025 single base substitution G C intron_variant BRCA-EU 11 119234025 119234025 single base substitution G C upstream_gene_variant BRCA-EU 11 119236397 119236397 single base substitution C G intron_variant BRCA-EU 11 119236397 119236397 single base substitution C G upstream_gene_variant BRCA-EU 11 119237122 119237122 single base substitution C T intron_variant BRCA-EU 11 119237122 119237122 single base substitution C T upstream_gene_variant BRCA-EU 11 119244308 119244308 single base substitution C T intron_variant BRCA-EU 11 119245320 119245320 single base substitution C T intron_variant BRCA-EU 11 119246502 119246502 single base substitution G A intron_variant BRCA-EU 11 119247157 119247157 insertion of <=200bp - G intron_variant BRCA-EU 11 119247157 119247157 insertion of <=200bp - G upstream_gene_variant BRCA-EU 11 119247824 119247824 single base substitution G A intron_variant BRCA-EU 11 119247824 119247824 single base substitution G A upstream_gene_variant BRCA-EU 11 119250691 119250691 single base substitution C G intron_variant BRCA-EU 11 119250691 119250691 single base substitution C G upstream_gene_variant BRCA-EU 11 119252550 119252550 single base substitution C G upstream_gene_variant BRCA-EU 11 119254967 119254967 single base substitution G C upstream_gene_variant BRCA-EU 11 119255461 119255461 single base substitution G A upstream_gene_variant BRCA-EU 11 119256022 119256022 single base substitution G A upstream_gene_variant BRCA-EU 11 119256884 119256884 single base substitution A G upstream_gene_variant BRCA-EU 11 119256906 119256906 single base substitution C A upstream_gene_variant BRCA-FR 11 119225933 119225933 single base substitution C T 3_prime_UTR_variant BRCA-FR 11 119225933 119225933 single base substitution C T downstream_gene_variant BRCA-FR 11 119244415 119244415 single base substitution G T intron_variant BRCA-FR 11 119244553 119244553 single base substitution C T intron_variant BRCA-FR 11 119255461 119255461 single base substitution G A upstream_gene_variant BRCA-FR 11 119256906 119256906 single base substitution C A upstream_gene_variant BRCA-KR 11 119243958 119243958 single base substitution C T intron_variant BRCA-KR 11 119243958 119243958 single base substitution C T missense_variant R78H 233G>A BRCA-UK 11 119229518 119229518 single base substitution C G exon_variant BRCA-UK 11 119229518 119229518 single base substitution C G missense_variant R158T 473G>C BRCA-UK 11 119229518 119229518 single base substitution C G missense_variant R192T 575G>C BRCA-UK 11 119229518 119229518 single base substitution C G missense_variant R401T 1202G>C BRCA-UK 11 119251064 119251064 single base substitution C T intron_variant BRCA-UK 11 119251064 119251064 single base substitution C T upstream_gene_variant BRCA-UK 11 119256022 119256022 single base substitution G A upstream_gene_variant BRCA-UK 11 119256884 119256884 single base substitution A G upstream_gene_variant BRCA-US 11 119228515 119228515 single base substitution A C downstream_gene_variant BRCA-US 11 119228515 119228515 single base substitution A C missense_variant C242G 724T>G BRCA-US 11 119228515 119228515 single base substitution A C missense_variant C276G 826T>G BRCA-US 11 119228515 119228515 single base substitution A C missense_variant C485G 1453T>G BTCA-JP 11 119228214 119228214 single base substitution C A downstream_gene_variant BTCA-JP 11 119228214 119228214 single base substitution C A stop_gained E287* 859G>T BTCA-JP 11 119228214 119228214 single base substitution C A stop_gained E321* 961G>T BTCA-JP 11 119228214 119228214 single base substitution C A stop_gained E530* 1588G>T BTCA-JP 11 119229044 119229044 single base substitution T G downstream_gene_variant BTCA-JP 11 119229044 119229044 single base substitution T G intron_variant CLLE-ES 11 119230329 119230329 single base substitution C T exon_variant CLLE-ES 11 119230329 119230329 single base substitution C T synonymous_variant R289R 867G>A CLLE-ES 11 119230329 119230329 single base substitution C T synonymous_variant R46R 138G>A CLLE-ES 11 119230329 119230329 single base substitution C T synonymous_variant R80R 240G>A COAD-US 11 119227605 119227605 single base substitution C T downstream_gene_variant COAD-US 11 119227605 119227605 single base substitution C T synonymous_variant V343V 1029G>A COAD-US 11 119227605 119227605 single base substitution C T synonymous_variant V377V 1131G>A COAD-US 11 119227605 119227605 single base substitution C T synonymous_variant V586V 1758G>A COAD-US 11 119227949 119227949 single base substitution C T downstream_gene_variant COAD-US 11 119227949 119227949 single base substitution C T missense_variant A317T 949G>A COAD-US 11 119227949 119227949 single base substitution C T missense_variant A351T 1051G>A COAD-US 11 119227949 119227949 single base substitution C T missense_variant A560T 1678G>A COAD-US 11 119228470 119228470 single base substitution G A downstream_gene_variant COAD-US 11 119228470 119228470 single base substitution G A missense_variant L257F 769C>T COAD-US 11 119228470 119228470 single base substitution G A missense_variant L291F 871C>T COAD-US 11 119228470 119228470 single base substitution G A missense_variant L500F 1498C>T COAD-US 11 119229958 119229958 single base substitution C T exon_variant COAD-US 11 119229958 119229958 single base substitution C T synonymous_variant P105P 315G>A COAD-US 11 119229958 119229958 single base substitution C T synonymous_variant P139P 417G>A COAD-US 11 119229958 119229958 single base substitution C T synonymous_variant P348P 1044G>A COAD-US 11 119243463 119243463 single base substitution T C downstream_gene_variant COAD-US 11 119243463 119243463 single base substitution T C intron_variant COAD-US 11 119243463 119243463 single base substitution T C missense_variant Q243R 728A>G COAD-US 11 119243565 119243565 single base substitution G T downstream_gene_variant COAD-US 11 119243565 119243565 single base substitution G T intron_variant COAD-US 11 119243565 119243565 single base substitution G T missense_variant S209Y 626C>A COAD-US 11 119243717 119243717 single base substitution G A downstream_gene_variant COAD-US 11 119243717 119243717 single base substitution G A intron_variant COAD-US 11 119243717 119243717 single base substitution G A synonymous_variant S158S 474C>T COAD-US 11 119243741 119243741 single base substitution G T downstream_gene_variant COAD-US 11 119243741 119243741 single base substitution G T intron_variant COAD-US 11 119243741 119243741 single base substitution G T missense_variant F150L 450C>A COAD-US 11 119244095 119244095 single base substitution C T intron_variant COAD-US 11 119244095 119244095 single base substitution C T synonymous_variant P32P 96G>A COCA-CN 11 119229374 119229374 single base substitution T C downstream_gene_variant COCA-CN 11 119229374 119229374 single base substitution T C intron_variant COCA-CN 11 119229888 119229888 single base substitution G T exon_variant COCA-CN 11 119229888 119229888 single base substitution G T intron_variant COCA-CN 11 119229957 119229957 single base substitution G A exon_variant COCA-CN 11 119229957 119229957 single base substitution G A missense_variant R106C 316C>T COCA-CN 11 119229957 119229957 single base substitution G A missense_variant R140C 418C>T COCA-CN 11 119229957 119229957 single base substitution G A missense_variant R349C 1045C>T COCA-CN 11 119229968 119229968 single base substitution C A exon_variant COCA-CN 11 119229968 119229968 single base substitution C A missense_variant R102I 305G>T COCA-CN 11 119229968 119229968 single base substitution C A missense_variant R136I 407G>T COCA-CN 11 119229968 119229968 single base substitution C A missense_variant R345I 1034G>T COCA-CN 11 119234144 119234144 single base substitution C T intron_variant COCA-CN 11 119234144 119234144 single base substitution C T upstream_gene_variant COCA-CN 11 119239522 119239522 single base substitution G C downstream_gene_variant COCA-CN 11 119239522 119239522 single base substitution G C intron_variant COCA-CN 11 119239522 119239522 single base substitution G C upstream_gene_variant COCA-CN 11 119243548 119243548 single base substitution C T downstream_gene_variant COCA-CN 11 119243548 119243548 single base substitution C T intron_variant COCA-CN 11 119243548 119243548 single base substitution C T missense_variant A215T 643G>A COCA-CN 11 119243603 119243603 single base substitution G A downstream_gene_variant COCA-CN 11 119243603 119243603 single base substitution G A intron_variant COCA-CN 11 119243603 119243603 single base substitution G A synonymous_variant V196V 588C>T ESAD-UK 11 119221748 119221748 single base substitution C G downstream_gene_variant ESAD-UK 11 119226519 119226519 single base substitution C T 3_prime_UTR_variant ESAD-UK 11 119226519 119226519 single base substitution C T downstream_gene_variant ESAD-UK 11 119233334 119233334 single base substitution A G intron_variant ESAD-UK 11 119233334 119233334 single base substitution A G upstream_gene_variant ESAD-UK 11 119233461 119233461 single base substitution G T intron_variant ESAD-UK 11 119233461 119233461 single base substitution G T upstream_gene_variant ESAD-UK 11 119235393 119235393 single base substitution G C intron_variant ESAD-UK 11 119235393 119235393 single base substitution G C upstream_gene_variant ESAD-UK 11 119235761 119235761 single base substitution C T intron_variant ESAD-UK 11 119235761 119235761 single base substitution C T upstream_gene_variant ESAD-UK 11 119235960 119235960 single base substitution G A intron_variant ESAD-UK 11 119235960 119235960 single base substitution G A upstream_gene_variant ESAD-UK 11 119245312 119245312 single base substitution A G intron_variant ESAD-UK 11 119245729 119245729 single base substitution G T intron_variant ESAD-UK 11 119247263 119247263 deletion of <=200bp G - intron_variant ESAD-UK 11 119247263 119247263 deletion of <=200bp G - upstream_gene_variant ESAD-UK 11 119247520 119247520 deletion of <=200bp C - intron_variant ESAD-UK 11 119247520 119247520 deletion of <=200bp C - upstream_gene_variant ESAD-UK 11 119247865 119247865 single base substitution C T intron_variant ESAD-UK 11 119247865 119247865 single base substitution C T upstream_gene_variant ESAD-UK 11 119251067 119251067 single base substitution G T intron_variant ESAD-UK 11 119251067 119251067 single base substitution G T upstream_gene_variant ESAD-UK 11 119253531 119253531 single base substitution C A upstream_gene_variant ESAD-UK 11 119253746 119253746 single base substitution T G upstream_gene_variant ESAD-UK 11 119254405 119254405 deletion of <=200bp A - upstream_gene_variant ESAD-UK 11 119255432 119255432 single base substitution G A upstream_gene_variant ESCA-CN 11 119229034 119229034 deletion of <=200bp T - downstream_gene_variant ESCA-CN 11 119229034 119229034 deletion of <=200bp T - intron_variant ESCA-CN 11 119234443 119234443 single base substitution G T intron_variant ESCA-CN 11 119234443 119234443 single base substitution G T upstream_gene_variant ESCA-CN 11 119234708 119234708 single base substitution T G 5_prime_UTR_variant ESCA-CN 11 119234708 119234708 single base substitution T G intron_variant ESCA-CN 11 119234708 119234708 single base substitution T G upstream_gene_variant ESCA-CN 11 119243614 119243614 single base substitution C T downstream_gene_variant ESCA-CN 11 119243614 119243614 single base substitution C T intron_variant ESCA-CN 11 119243614 119243614 single base substitution C T missense_variant E193K 577G>A GBM-US 11 119229846 119229846 deletion of <=200bp T - exon_variant GBM-US 11 119229846 119229846 deletion of <=200bp T - splice_acceptor_variant KIRC-US 11 119229755 119229755 single base substitution G T exon_variant KIRC-US 11 119229755 119229755 single base substitution G T missense_variant P141H 422C>A KIRC-US 11 119229755 119229755 single base substitution G T missense_variant P175H 524C>A KIRC-US 11 119229755 119229755 single base substitution G T missense_variant P384H 1151C>A KIRC-US 11 119229962 119229962 single base substitution G A exon_variant KIRC-US 11 119229962 119229962 single base substitution G A missense_variant A104V 311C>T KIRC-US 11 119229962 119229962 single base substitution G A missense_variant A138V 413C>T KIRC-US 11 119229962 119229962 single base substitution G A missense_variant A347V 1040C>T KIRC-US 11 119243611 119243611 single base substitution A G downstream_gene_variant KIRC-US 11 119243611 119243611 single base substitution A G intron_variant KIRC-US 11 119243611 119243611 single base substitution A G missense_variant Y194H 580T>C LICA-FR 11 119230374 119230374 single base substitution C G splice_region_variant LICA-FR 11 119240334 119240334 single base substitution T G downstream_gene_variant LICA-FR 11 119240334 119240334 single base substitution T G intron_variant LICA-FR 11 119244058 119244058 single base substitution C G intron_variant LICA-FR 11 119244058 119244058 single base substitution C G missense_variant E45Q 133G>C LIHC-US 11 119228275 119228275 single base substitution C T downstream_gene_variant LIHC-US 11 119228275 119228275 single base substitution C T synonymous_variant R266R 798G>A LIHC-US 11 119228275 119228275 single base substitution C T synonymous_variant R300R 900G>A LIHC-US 11 119228275 119228275 single base substitution C T synonymous_variant R509R 1527G>A LINC-JP 11 119227329 119227329 single base substitution G A 3_prime_UTR_variant LINC-JP 11 119227329 119227329 single base substitution G A downstream_gene_variant LINC-JP 11 119229044 119229044 single base substitution T G downstream_gene_variant LINC-JP 11 119229044 119229044 single base substitution T G intron_variant LINC-JP 11 119230445 119230445 single base substitution T A intron_variant LINC-JP 11 119243968 119243968 single base substitution C G intron_variant LINC-JP 11 119243968 119243968 single base substitution C G missense_variant D75H 223G>C LINC-JP 11 119248952 119248952 single base substitution A G intron_variant LINC-JP 11 119248952 119248952 single base substitution A G upstream_gene_variant LIRI-JP 11 119223408 119223408 single base substitution T A downstream_gene_variant LIRI-JP 11 119224035 119224035 single base substitution T C downstream_gene_variant LIRI-JP 11 119226315 119226315 single base substitution G T 3_prime_UTR_variant LIRI-JP 11 119226315 119226315 single base substitution G T downstream_gene_variant LIRI-JP 11 119233036 119233036 single base substitution A G intron_variant LIRI-JP 11 119233036 119233036 single base substitution A G upstream_gene_variant LIRI-JP 11 119236881 119236881 single base substitution A G intron_variant LIRI-JP 11 119236881 119236881 single base substitution A G upstream_gene_variant LIRI-JP 11 119237682 119237682 single base substitution G T intron_variant LIRI-JP 11 119237682 119237682 single base substitution G T upstream_gene_variant LIRI-JP 11 119239121 119239121 single base substitution C T downstream_gene_variant LIRI-JP 11 119239121 119239121 single base substitution C T intron_variant LIRI-JP 11 119239121 119239121 single base substitution C T upstream_gene_variant LIRI-JP 11 119241344 119241347 deletion of <=200bp TAAA - downstream_gene_variant LIRI-JP 11 119241344 119241347 deletion of <=200bp TAAA - intron_variant LIRI-JP 11 119242146 119242146 single base substitution T C downstream_gene_variant LIRI-JP 11 119242146 119242146 single base substitution T C intron_variant LIRI-JP 11 119246137 119246141 deletion of <=200bp GCCCA - intron_variant LIRI-JP 11 119246567 119246567 single base substitution C G intron_variant LIRI-JP 11 119246814 119246814 single base substitution C T intron_variant LIRI-JP 11 119249506 119249506 single base substitution C T intron_variant LIRI-JP 11 119249506 119249506 single base substitution C T upstream_gene_variant LIRI-JP 11 119250896 119250896 single base substitution A T intron_variant LIRI-JP 11 119250896 119250896 single base substitution A T upstream_gene_variant LIRI-JP 11 119254068 119254068 single base substitution G A upstream_gene_variant LIRI-JP 11 119254367 119254367 single base substitution A G upstream_gene_variant LIRI-JP 11 119255749 119255749 single base substitution A T upstream_gene_variant LIRI-JP 11 119256137 119256137 single base substitution G A upstream_gene_variant LUSC-KR 11 119226766 119226766 single base substitution A G 3_prime_UTR_variant LUSC-KR 11 119226766 119226766 single base substitution A G downstream_gene_variant LUSC-KR 11 119227844 119227844 single base substitution G C downstream_gene_variant LUSC-KR 11 119227844 119227844 single base substitution G C intron_variant LUSC-KR 11 119229623 119229623 single base substitution C T intron_variant LUSC-KR 11 119231075 119231075 single base substitution T A intron_variant LUSC-KR 11 119231075 119231075 single base substitution T A upstream_gene_variant LUSC-KR 11 119231719 119231719 single base substitution A T intron_variant LUSC-KR 11 119231719 119231719 single base substitution A T upstream_gene_variant LUSC-KR 11 119231748 119231748 single base substitution C T intron_variant LUSC-KR 11 119231748 119231748 single base substitution C T upstream_gene_variant LUSC-KR 11 119243665 119243665 single base substitution G A downstream_gene_variant LUSC-KR 11 119243665 119243665 single base substitution G A intron_variant LUSC-KR 11 119243665 119243665 single base substitution G A missense_variant R176C 526C>T LUSC-KR 11 119252225 119252225 single base substitution C A 5_prime_UTR_variant LUSC-KR 11 119252225 119252225 single base substitution C A start_lost M1I 3G>T LUSC-KR 11 119252225 119252225 single base substitution C A upstream_gene_variant LUSC-KR 11 119255688 119255688 single base substitution G C upstream_gene_variant LUSC-US 11 119243758 119243758 single base substitution C T downstream_gene_variant LUSC-US 11 119243758 119243758 single base substitution C T intron_variant LUSC-US 11 119243758 119243758 single base substitution C T missense_variant D145N 433G>A MALY-DE 11 119225162 119225162 single base substitution G C downstream_gene_variant MALY-DE 11 119234604 119234604 single base substitution G C exon_variant MALY-DE 11 119234604 119234604 single base substitution G C intron_variant MALY-DE 11 119234604 119234604 single base substitution G C synonymous_variant S34S 102C>G MALY-DE 11 119234604 119234604 single base substitution G C upstream_gene_variant MALY-DE 11 119239257 119239257 single base substitution C A downstream_gene_variant MALY-DE 11 119239257 119239257 single base substitution C A intron_variant MALY-DE 11 119239257 119239257 single base substitution C A upstream_gene_variant MALY-DE 11 119243252 119243252 single base substitution G A downstream_gene_variant MALY-DE 11 119243252 119243252 single base substitution G A intron_variant MALY-DE 11 119255068 119255068 single base substitution G T upstream_gene_variant MALY-DE 11 119256496 119256496 single base substitution T G upstream_gene_variant MELA-AU 11 119221017 119221017 single base substitution G A downstream_gene_variant MELA-AU 11 119221118 119221118 single base substitution G A downstream_gene_variant MELA-AU 11 119221373 119221373 single base substitution C T downstream_gene_variant MELA-AU 11 119221556 119221556 single base substitution T C downstream_gene_variant MELA-AU 11 119223402 119223402 single base substitution C T downstream_gene_variant MELA-AU 11 119223742 119223743 multiple base substitution (>=2bp and <=200bp) AG TA downstream_gene_variant MELA-AU 11 119223982 119223982 single base substitution C T downstream_gene_variant MELA-AU 11 119224089 119224089 single base substitution G A downstream_gene_variant MELA-AU 11 119225577 119225577 single base substitution C T downstream_gene_variant MELA-AU 11 119225756 119225756 single base substitution C T downstream_gene_variant MELA-AU 11 119226057 119226057 single base substitution G A 3_prime_UTR_variant MELA-AU 11 119226057 119226057 single base substitution G A downstream_gene_variant MELA-AU 11 119226079 119226080 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 11 119226079 119226080 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 119226288 119226289 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 11 119226288 119226289 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 119227670 119227670 single base substitution G A downstream_gene_variant MELA-AU 11 119227670 119227670 single base substitution G A intron_variant MELA-AU 11 119228237 119228237 single base substitution G A downstream_gene_variant MELA-AU 11 119228237 119228237 single base substitution G A missense_variant P279L 836C>T MELA-AU 11 119228237 119228237 single base substitution G A missense_variant P313L 938C>T MELA-AU 11 119228237 119228237 single base substitution G A missense_variant P522L 1565C>T MELA-AU 11 119228782 119228782 single base substitution G A downstream_gene_variant MELA-AU 11 119228782 119228782 single base substitution G A intron_variant MELA-AU 11 119229884 119229884 single base substitution C T exon_variant MELA-AU 11 119229884 119229884 single base substitution C T intron_variant MELA-AU 11 119230550 119230550 single base substitution C T intron_variant MELA-AU 11 119230612 119230612 single base substitution G A intron_variant MELA-AU 11 119231237 119231237 single base substitution G A intron_variant MELA-AU 11 119231237 119231237 single base substitution G A upstream_gene_variant MELA-AU 11 119231257 119231257 single base substitution C T intron_variant MELA-AU 11 119231257 119231257 single base substitution C T upstream_gene_variant MELA-AU 11 119231331 119231331 single base substitution C T intron_variant MELA-AU 11 119231331 119231331 single base substitution C T upstream_gene_variant MELA-AU 11 119232077 119232077 single base substitution C T intron_variant MELA-AU 11 119232077 119232077 single base substitution C T upstream_gene_variant MELA-AU 11 119232633 119232633 single base substitution C T intron_variant MELA-AU 11 119232633 119232633 single base substitution C T upstream_gene_variant MELA-AU 11 119233029 119233029 single base substitution G A intron_variant MELA-AU 11 119233029 119233029 single base substitution G A upstream_gene_variant MELA-AU 11 119233245 119233245 single base substitution G A intron_variant MELA-AU 11 119233245 119233245 single base substitution G A upstream_gene_variant MELA-AU 11 119233303 119233303 single base substitution G A intron_variant MELA-AU 11 119233303 119233303 single base substitution G A upstream_gene_variant MELA-AU 11 119233878 119233878 single base substitution G A intron_variant MELA-AU 11 119233878 119233878 single base substitution G A upstream_gene_variant MELA-AU 11 119233918 119233918 single base substitution C T intron_variant MELA-AU 11 119233918 119233918 single base substitution C T upstream_gene_variant MELA-AU 11 119233947 119233947 single base substitution C T intron_variant MELA-AU 11 119233947 119233947 single base substitution C T upstream_gene_variant MELA-AU 11 119234036 119234036 single base substitution G A intron_variant MELA-AU 11 119234036 119234036 single base substitution G A upstream_gene_variant MELA-AU 11 119234669 119234669 single base substitution G A intron_variant MELA-AU 11 119234669 119234669 single base substitution G A missense_variant P13S 37C>T MELA-AU 11 119234669 119234669 single base substitution G A upstream_gene_variant MELA-AU 11 119236080 119236080 single base substitution C T intron_variant MELA-AU 11 119236080 119236080 single base substitution C T upstream_gene_variant MELA-AU 11 119236627 119236627 single base substitution C T intron_variant MELA-AU 11 119236627 119236627 single base substitution C T upstream_gene_variant MELA-AU 11 119236812 119236812 single base substitution C T intron_variant MELA-AU 11 119236812 119236812 single base substitution C T upstream_gene_variant MELA-AU 11 119236942 119236942 single base substitution A G intron_variant MELA-AU 11 119236942 119236942 single base substitution A G upstream_gene_variant MELA-AU 11 119237549 119237549 single base substitution C T intron_variant MELA-AU 11 119237549 119237549 single base substitution C T upstream_gene_variant MELA-AU 11 119238580 119238580 single base substitution C T intron_variant MELA-AU 11 119238580 119238580 single base substitution C T upstream_gene_variant MELA-AU 11 119238735 119238735 single base substitution G A downstream_gene_variant MELA-AU 11 119238735 119238735 single base substitution G A intron_variant MELA-AU 11 119238735 119238735 single base substitution G A upstream_gene_variant MELA-AU 11 119238958 119238959 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 119238958 119238959 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 119238958 119238959 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 119239058 119239058 single base substitution G A downstream_gene_variant MELA-AU 11 119239058 119239058 single base substitution G A intron_variant MELA-AU 11 119239058 119239058 single base substitution G A upstream_gene_variant MELA-AU 11 119239164 119239164 single base substitution C T downstream_gene_variant MELA-AU 11 119239164 119239164 single base substitution C T intron_variant MELA-AU 11 119239164 119239164 single base substitution C T upstream_gene_variant MELA-AU 11 119239206 119239206 single base substitution C T downstream_gene_variant MELA-AU 11 119239206 119239206 single base substitution C T intron_variant MELA-AU 11 119239206 119239206 single base substitution C T upstream_gene_variant MELA-AU 11 119239218 119239218 single base substitution C T downstream_gene_variant MELA-AU 11 119239218 119239218 single base substitution C T intron_variant MELA-AU 11 119239218 119239218 single base substitution C T upstream_gene_variant MELA-AU 11 119239701 119239701 single base substitution G A downstream_gene_variant MELA-AU 11 119239701 119239701 single base substitution G A intron_variant MELA-AU 11 119239701 119239701 single base substitution G A upstream_gene_variant MELA-AU 11 119239705 119239705 single base substitution C T downstream_gene_variant MELA-AU 11 119239705 119239705 single base substitution C T intron_variant MELA-AU 11 119239705 119239705 single base substitution C T upstream_gene_variant MELA-AU 11 119239805 119239805 single base substitution C T downstream_gene_variant MELA-AU 11 119239805 119239805 single base substitution C T intron_variant MELA-AU 11 119239805 119239805 single base substitution C T upstream_gene_variant MELA-AU 11 119239873 119239873 single base substitution G A downstream_gene_variant MELA-AU 11 119239873 119239873 single base substitution G A intron_variant MELA-AU 11 119239873 119239873 single base substitution G A upstream_gene_variant MELA-AU 11 119241006 119241006 single base substitution G A downstream_gene_variant MELA-AU 11 119241006 119241006 single base substitution G A intron_variant MELA-AU 11 119241290 119241290 single base substitution G A downstream_gene_variant MELA-AU 11 119241290 119241290 single base substitution G A intron_variant MELA-AU 11 119241501 119241501 single base substitution C T downstream_gene_variant MELA-AU 11 119241501 119241501 single base substitution C T intron_variant MELA-AU 11 119241687 119241688 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 119241687 119241688 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 119241823 119241823 single base substitution G A downstream_gene_variant MELA-AU 11 119241823 119241823 single base substitution G A intron_variant MELA-AU 11 119242844 119242844 single base substitution C T downstream_gene_variant MELA-AU 11 119242844 119242844 single base substitution C T intron_variant MELA-AU 11 119242933 119242933 single base substitution C T downstream_gene_variant MELA-AU 11 119242933 119242933 single base substitution C T intron_variant MELA-AU 11 119243001 119243001 single base substitution G A downstream_gene_variant MELA-AU 11 119243001 119243001 single base substitution G A intron_variant MELA-AU 11 119243166 119243166 single base substitution C T downstream_gene_variant MELA-AU 11 119243166 119243166 single base substitution C T intron_variant MELA-AU 11 119243229 119243229 deletion of <=200bp G - downstream_gene_variant MELA-AU 11 119243229 119243229 deletion of <=200bp G - intron_variant MELA-AU 11 119243852 119243852 single base substitution G A intron_variant MELA-AU 11 119243852 119243852 single base substitution G A synonymous_variant F113F 339C>T MELA-AU 11 119244090 119244090 single base substitution G A intron_variant MELA-AU 11 119244090 119244090 single base substitution G A missense_variant S34F 101C>T MELA-AU 11 119244213 119244213 single base substitution G A 5_prime_UTR_variant MELA-AU 11 119244213 119244213 single base substitution G A intron_variant MELA-AU 11 119244311 119244311 single base substitution G A intron_variant MELA-AU 11 119244425 119244425 single base substitution C T intron_variant MELA-AU 11 119244976 119244976 single base substitution C T intron_variant MELA-AU 11 119245212 119245212 single base substitution G A intron_variant MELA-AU 11 119245350 119245350 single base substitution A G intron_variant MELA-AU 11 119245528 119245528 single base substitution G A intron_variant MELA-AU 11 119245724 119245724 single base substitution A C intron_variant MELA-AU 11 119247743 119247743 single base substitution G A intron_variant MELA-AU 11 119247743 119247743 single base substitution G A upstream_gene_variant MELA-AU 11 119248021 119248022 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 119248021 119248022 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 119248526 119248526 single base substitution G A intron_variant MELA-AU 11 119248526 119248526 single base substitution G A upstream_gene_variant MELA-AU 11 119248597 119248597 single base substitution C T intron_variant MELA-AU 11 119248597 119248597 single base substitution C T upstream_gene_variant MELA-AU 11 119248645 119248645 single base substitution G A intron_variant MELA-AU 11 119248645 119248645 single base substitution G A upstream_gene_variant MELA-AU 11 119249090 119249090 single base substitution C T intron_variant MELA-AU 11 119249090 119249090 single base substitution C T upstream_gene_variant MELA-AU 11 119249219 119249219 single base substitution G A intron_variant MELA-AU 11 119249219 119249219 single base substitution G A upstream_gene_variant MELA-AU 11 119249518 119249518 single base substitution G A intron_variant MELA-AU 11 119249518 119249518 single base substitution G A upstream_gene_variant MELA-AU 11 119250053 119250053 single base substitution G A intron_variant MELA-AU 11 119250053 119250053 single base substitution G A upstream_gene_variant MELA-AU 11 119250587 119250587 single base substitution G A intron_variant MELA-AU 11 119250587 119250587 single base substitution G A upstream_gene_variant MELA-AU 11 119251532 119251532 single base substitution C T intron_variant MELA-AU 11 119251532 119251532 single base substitution C T upstream_gene_variant MELA-AU 11 119251653 119251653 single base substitution C T intron_variant MELA-AU 11 119251653 119251653 single base substitution C T upstream_gene_variant MELA-AU 11 119251747 119251748 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 119251747 119251748 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 119251765 119251765 single base substitution C T intron_variant MELA-AU 11 119251765 119251765 single base substitution C T upstream_gene_variant MELA-AU 11 119252337 119252337 single base substitution G T 5_prime_UTR_variant MELA-AU 11 119252337 119252337 single base substitution G T upstream_gene_variant MELA-AU 11 119252360 119252360 single base substitution G A 5_prime_UTR_variant MELA-AU 11 119252360 119252360 single base substitution G A upstream_gene_variant MELA-AU 11 119252734 119252734 single base substitution G A upstream_gene_variant MELA-AU 11 119253488 119253488 single base substitution G A upstream_gene_variant MELA-AU 11 119253523 119253523 single base substitution C T upstream_gene_variant MELA-AU 11 119254128 119254128 single base substitution G A upstream_gene_variant MELA-AU 11 119254244 119254244 single base substitution C T upstream_gene_variant MELA-AU 11 119254528 119254528 single base substitution G A upstream_gene_variant MELA-AU 11 119254594 119254594 single base substitution G A upstream_gene_variant MELA-AU 11 119254734 119254734 single base substitution G A upstream_gene_variant MELA-AU 11 119254791 119254791 single base substitution G A upstream_gene_variant MELA-AU 11 119255112 119255112 single base substitution G A upstream_gene_variant MELA-AU 11 119255686 119255687 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 119255893 119255893 single base substitution G T upstream_gene_variant MELA-AU 11 119255937 119255937 single base substitution C T upstream_gene_variant MELA-AU 11 119255961 119255961 single base substitution C T upstream_gene_variant MELA-AU 11 119256231 119256231 single base substitution C T upstream_gene_variant MELA-AU 11 119256241 119256241 single base substitution C T upstream_gene_variant MELA-AU 11 119256426 119256426 single base substitution C T upstream_gene_variant MELA-AU 11 119256931 119256931 single base substitution C T upstream_gene_variant MELA-AU 11 119257002 119257002 single base substitution G A upstream_gene_variant MELA-AU 11 119257257 119257257 single base substitution C T upstream_gene_variant ORCA-IN 11 119229272 119229272 single base substitution C T downstream_gene_variant ORCA-IN 11 119229272 119229272 single base substitution C T intron_variant ORCA-IN 11 119239507 119239507 single base substitution C G downstream_gene_variant ORCA-IN 11 119239507 119239507 single base substitution C G intron_variant ORCA-IN 11 119239507 119239507 single base substitution C G upstream_gene_variant OV-AU 11 119223747 119223747 single base substitution C T downstream_gene_variant OV-AU 11 119224396 119224396 single base substitution G T downstream_gene_variant OV-AU 11 119229395 119229395 single base substitution G A exon_variant OV-AU 11 119229395 119229395 single base substitution G A intron_variant OV-AU 11 119230329 119230329 single base substitution C T exon_variant OV-AU 11 119230329 119230329 single base substitution C T synonymous_variant R289R 867G>A OV-AU 11 119230329 119230329 single base substitution C T synonymous_variant R46R 138G>A OV-AU 11 119230329 119230329 single base substitution C T synonymous_variant R80R 240G>A OV-AU 11 119234156 119234156 single base substitution G T intron_variant OV-AU 11 119234156 119234156 single base substitution G T upstream_gene_variant OV-AU 11 119234377 119234377 single base substitution C T intron_variant OV-AU 11 119234377 119234377 single base substitution C T upstream_gene_variant OV-AU 11 119237732 119237732 single base substitution A T intron_variant OV-AU 11 119237732 119237732 single base substitution A T upstream_gene_variant OV-AU 11 119240062 119240062 single base substitution G T downstream_gene_variant OV-AU 11 119240062 119240062 single base substitution G T intron_variant OV-AU 11 119242448 119242448 single base substitution A T downstream_gene_variant OV-AU 11 119242448 119242448 single base substitution A T intron_variant OV-AU 11 119243005 119243005 single base substitution A G downstream_gene_variant OV-AU 11 119243005 119243005 single base substitution A G intron_variant OV-AU 11 119243666 119243666 single base substitution C T downstream_gene_variant OV-AU 11 119243666 119243666 single base substitution C T intron_variant OV-AU 11 119243666 119243666 single base substitution C T synonymous_variant T175T 525G>A OV-AU 11 119246783 119246783 single base substitution A G intron_variant OV-AU 11 119248686 119248686 single base substitution C T intron_variant OV-AU 11 119248686 119248686 single base substitution C T upstream_gene_variant OV-AU 11 119251002 119251002 single base substitution C T intron_variant OV-AU 11 119251002 119251002 single base substitution C T upstream_gene_variant OV-AU 11 119255487 119255487 single base substitution T C upstream_gene_variant PACA-AU 11 119221244 119221244 single base substitution C T downstream_gene_variant PACA-AU 11 119222623 119222623 single base substitution C A downstream_gene_variant PACA-AU 11 119222634 119222634 single base substitution A G downstream_gene_variant PACA-AU 11 119226623 119226623 single base substitution C A 3_prime_UTR_variant PACA-AU 11 119226623 119226623 single base substitution C A downstream_gene_variant PACA-AU 11 119226753 119226753 single base substitution A C 3_prime_UTR_variant PACA-AU 11 119226753 119226753 single base substitution A C downstream_gene_variant PACA-AU 11 119227021 119227021 single base substitution G A 3_prime_UTR_variant PACA-AU 11 119227021 119227021 single base substitution G A downstream_gene_variant PACA-AU 11 119228190 119228190 single base substitution C T downstream_gene_variant PACA-AU 11 119228190 119228190 single base substitution C T splice_region_variant PACA-AU 11 119231475 119231475 single base substitution C A intron_variant PACA-AU 11 119231475 119231475 single base substitution C A upstream_gene_variant PACA-AU 11 119233384 119233384 single base substitution A C intron_variant PACA-AU 11 119233384 119233384 single base substitution A C upstream_gene_variant PACA-AU 11 119243423 119243423 single base substitution G A downstream_gene_variant PACA-AU 11 119243423 119243423 single base substitution G A intron_variant PACA-AU 11 119243423 119243423 single base substitution G A synonymous_variant D256D 768C>T PACA-AU 11 119251028 119251028 single base substitution C A intron_variant PACA-AU 11 119251028 119251028 single base substitution C A upstream_gene_variant PACA-AU 11 119254270 119254270 single base substitution C A upstream_gene_variant PACA-AU 11 119255572 119255572 deletion of <=200bp A - upstream_gene_variant PACA-AU 11 119256642 119256642 single base substitution G A upstream_gene_variant PACA-AU 11 119256754 119256754 single base substitution C T upstream_gene_variant PACA-CA 11 119220938 119220938 single base substitution G T downstream_gene_variant PACA-CA 11 119227203 119227203 single base substitution G A 3_prime_UTR_variant PACA-CA 11 119227203 119227203 single base substitution G A downstream_gene_variant PACA-CA 11 119229484 119229484 single base substitution C A exon_variant PACA-CA 11 119229484 119229484 single base substitution C A splice_region_variant PACA-CA 11 119230308 119230308 single base substitution G T exon_variant PACA-CA 11 119230308 119230308 single base substitution G T synonymous_variant L296L 888C>A PACA-CA 11 119230308 119230308 single base substitution G T synonymous_variant L53L 159C>A PACA-CA 11 119230308 119230308 single base substitution G T synonymous_variant L87L 261C>A PACA-CA 11 119231498 119231498 single base substitution G A intron_variant PACA-CA 11 119231498 119231498 single base substitution G A upstream_gene_variant PACA-CA 11 119231632 119231632 single base substitution C A intron_variant PACA-CA 11 119231632 119231632 single base substitution C A upstream_gene_variant PACA-CA 11 119231835 119231835 single base substitution T C intron_variant PACA-CA 11 119231835 119231835 single base substitution T C upstream_gene_variant PACA-CA 11 119234143 119234143 single base substitution G T intron_variant PACA-CA 11 119234143 119234143 single base substitution G T upstream_gene_variant PACA-CA 11 119234390 119234390 single base substitution T A intron_variant PACA-CA 11 119234390 119234390 single base substitution T A upstream_gene_variant PACA-CA 11 119241567 119241567 deletion of <=200bp G - downstream_gene_variant PACA-CA 11 119241567 119241567 deletion of <=200bp G - intron_variant PACA-CA 11 119243446 119243446 single base substitution G A downstream_gene_variant PACA-CA 11 119243446 119243446 single base substitution G A intron_variant PACA-CA 11 119243446 119243446 single base substitution G A missense_variant R249C 745C>T PACA-CA 11 119243688 119243688 single base substitution C T downstream_gene_variant PACA-CA 11 119243688 119243688 single base substitution C T intron_variant PACA-CA 11 119243688 119243688 single base substitution C T missense_variant R168H 503G>A PACA-CA 11 119243688 119243688 single base substitution C T synonymous_variant ?168 PACA-CA 11 119245059 119245059 single base substitution C T intron_variant PACA-CA 11 119245060 119245060 single base substitution C A intron_variant PAEN-AU 11 119231991 119231991 single base substitution T G intron_variant PAEN-AU 11 119231991 119231991 single base substitution T G upstream_gene_variant PAEN-IT 11 119244849 119244849 single base substitution G A intron_variant PBCA-DE 11 119223353 119223353 single base substitution C T downstream_gene_variant PBCA-DE 11 119235781 119235781 single base substitution T C intron_variant PBCA-DE 11 119235781 119235781 single base substitution T C upstream_gene_variant PBCA-DE 11 119243621 119243621 single base substitution G A downstream_gene_variant PBCA-DE 11 119243621 119243621 single base substitution G A intron_variant PBCA-DE 11 119243621 119243621 single base substitution G A synonymous_variant S190S 570C>T PBCA-DE 11 119244095 119244095 single base substitution C T intron_variant PBCA-DE 11 119244095 119244095 single base substitution C T synonymous_variant P32P 96G>A PRAD-CA 11 119242874 119242874 single base substitution T C downstream_gene_variant PRAD-CA 11 119242874 119242874 single base substitution T C intron_variant PRAD-CA 11 119249043 119249043 single base substitution C T intron_variant PRAD-CA 11 119249043 119249043 single base substitution C T upstream_gene_variant PRAD-UK 11 119229783 119229783 single base substitution G A exon_variant PRAD-UK 11 119229783 119229783 single base substitution G A stop_gained R132* 394C>T PRAD-UK 11 119229783 119229783 single base substitution G A stop_gained R166* 496C>T PRAD-UK 11 119229783 119229783 single base substitution G A stop_gained R375* 1123C>T PRAD-UK 11 119234182 119234182 single base substitution C T intron_variant PRAD-UK 11 119234182 119234182 single base substitution C T upstream_gene_variant PRAD-UK 11 119237025 119237025 single base substitution A C intron_variant PRAD-UK 11 119237025 119237025 single base substitution A C upstream_gene_variant PRAD-US 11 119227592 119227592 single base substitution C T downstream_gene_variant PRAD-US 11 119227592 119227592 single base substitution C T missense_variant A348T 1042G>A PRAD-US 11 119227592 119227592 single base substitution C T missense_variant A382T 1144G>A PRAD-US 11 119227592 119227592 single base substitution C T missense_variant A591T 1771G>A PRAD-US 11 119228895 119228895 single base substitution G A downstream_gene_variant PRAD-US 11 119228895 119228895 single base substitution G A exon_variant PRAD-US 11 119228895 119228895 single base substitution G A synonymous_variant F192F 576C>T PRAD-US 11 119228895 119228895 single base substitution G A synonymous_variant F226F 678C>T PRAD-US 11 119228895 119228895 single base substitution G A synonymous_variant F435F 1305C>T PRAD-US 11 119243942 119243942 single base substitution G A intron_variant PRAD-US 11 119243942 119243942 single base substitution G A synonymous_variant P83P 249C>T READ-US 11 119228292 119228292 single base substitution G A downstream_gene_variant READ-US 11 119228292 119228292 single base substitution G A missense_variant R261W 781C>T READ-US 11 119228292 119228292 single base substitution G A missense_variant R295W 883C>T READ-US 11 119228292 119228292 single base substitution G A missense_variant R504W 1510C>T RECA-EU 11 119232747 119232747 single base substitution T C intron_variant RECA-EU 11 119232747 119232747 single base substitution T C upstream_gene_variant RECA-EU 11 119233297 119233297 single base substitution A G intron_variant RECA-EU 11 119233297 119233297 single base substitution A G upstream_gene_variant RECA-EU 11 119238431 119238431 single base substitution C T intron_variant RECA-EU 11 119238431 119238431 single base substitution C T upstream_gene_variant RECA-EU 11 119238670 119238670 single base substitution C T intron_variant RECA-EU 11 119238670 119238670 single base substitution C T upstream_gene_variant RECA-EU 11 119240889 119240889 single base substitution A T downstream_gene_variant RECA-EU 11 119240889 119240889 single base substitution A T intron_variant RECA-EU 11 119240988 119240988 single base substitution A G downstream_gene_variant RECA-EU 11 119240988 119240988 single base substitution A G intron_variant SKCA-BR 11 119221751 119221751 single base substitution C T downstream_gene_variant SKCA-BR 11 119222706 119222706 single base substitution G A downstream_gene_variant SKCA-BR 11 119225188 119225188 single base substitution C G downstream_gene_variant SKCA-BR 11 119225810 119225810 single base substitution C T downstream_gene_variant SKCA-BR 11 119226036 119226036 single base substitution C T 3_prime_UTR_variant SKCA-BR 11 119226036 119226036 single base substitution C T downstream_gene_variant SKCA-BR 11 119227218 119227218 single base substitution A G 3_prime_UTR_variant SKCA-BR 11 119227218 119227218 single base substitution A G downstream_gene_variant SKCA-BR 11 119227679 119227679 single base substitution A C downstream_gene_variant SKCA-BR 11 119227679 119227679 single base substitution A C intron_variant SKCA-BR 11 119227810 119227810 single base substitution A G downstream_gene_variant SKCA-BR 11 119227810 119227810 single base substitution A G intron_variant SKCA-BR 11 119228056 119228056 single base substitution T C downstream_gene_variant SKCA-BR 11 119228056 119228056 single base substitution T C intron_variant SKCA-BR 11 119228073 119228073 single base substitution T C downstream_gene_variant SKCA-BR 11 119228073 119228073 single base substitution T C intron_variant SKCA-BR 11 119228440 119228440 single base substitution C T downstream_gene_variant SKCA-BR 11 119228440 119228440 single base substitution C T intron_variant SKCA-BR 11 119230076 119230076 single base substitution G A intron_variant SKCA-BR 11 119233330 119233330 single base substitution C T intron_variant SKCA-BR 11 119233330 119233330 single base substitution C T upstream_gene_variant SKCA-BR 11 119233775 119233775 single base substitution C T intron_variant SKCA-BR 11 119233775 119233775 single base substitution C T upstream_gene_variant SKCA-BR 11 119233989 119233989 single base substitution G A intron_variant SKCA-BR 11 119233989 119233989 single base substitution G A upstream_gene_variant SKCA-BR 11 119234990 119234990 single base substitution A C intron_variant SKCA-BR 11 119234990 119234990 single base substitution A C upstream_gene_variant SKCA-BR 11 119236608 119236609 deletion of <=200bp GT - intron_variant SKCA-BR 11 119236608 119236609 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 11 119243617 119243617 single base substitution G A downstream_gene_variant SKCA-BR 11 119243617 119243617 single base substitution G A intron_variant SKCA-BR 11 119243617 119243617 single base substitution G A missense_variant P192S 574C>T SKCA-BR 11 119243669 119243669 single base substitution C T downstream_gene_variant SKCA-BR 11 119243669 119243669 single base substitution C T intron_variant SKCA-BR 11 119243669 119243669 single base substitution C T synonymous_variant R174R 522G>A SKCA-BR 11 119243670 119243670 single base substitution C T downstream_gene_variant SKCA-BR 11 119243670 119243670 single base substitution C T intron_variant SKCA-BR 11 119243670 119243670 single base substitution C T missense_variant R174Q 521G>A SKCA-BR 11 119248770 119248770 single base substitution T C intron_variant SKCA-BR 11 119248770 119248770 single base substitution T C upstream_gene_variant SKCA-BR 11 119254618 119254618 single base substitution G A upstream_gene_variant SKCM-US 11 119228237 119228237 single base substitution G A downstream_gene_variant SKCM-US 11 119228237 119228237 single base substitution G A missense_variant P279L 836C>T SKCM-US 11 119228237 119228237 single base substitution G A missense_variant P313L 938C>T SKCM-US 11 119228237 119228237 single base substitution G A missense_variant P522L 1565C>T SKCM-US 11 119228485 119228485 single base substitution G A downstream_gene_variant SKCM-US 11 119228485 119228485 single base substitution G A missense_variant P252S 754C>T SKCM-US 11 119228485 119228485 single base substitution G A missense_variant P286S 856C>T SKCM-US 11 119228485 119228485 single base substitution G A missense_variant P495S 1483C>T SKCM-US 11 119228486 119228486 single base substitution G A downstream_gene_variant SKCM-US 11 119228486 119228486 single base substitution G A synonymous_variant F251F 753C>T SKCM-US 11 119228486 119228486 single base substitution G A synonymous_variant F285F 855C>T SKCM-US 11 119228486 119228486 single base substitution G A synonymous_variant F494F 1482C>T SKCM-US 11 119229819 119229819 single base substitution G A exon_variant SKCM-US 11 119229819 119229819 single base substitution G A missense_variant R120C 358C>T SKCM-US 11 119229819 119229819 single base substitution G A missense_variant R154C 460C>T SKCM-US 11 119229819 119229819 single base substitution G A missense_variant R363C 1087C>T SKCM-US 11 119229960 119229960 single base substitution G A exon_variant SKCM-US 11 119229960 119229960 single base substitution G A missense_variant P105S 313C>T SKCM-US 11 119229960 119229960 single base substitution G A missense_variant P139S 415C>T SKCM-US 11 119229960 119229960 single base substitution G A missense_variant P348S 1042C>T SKCM-US 11 119229968 119229968 single base substitution C T exon_variant SKCM-US 11 119229968 119229968 single base substitution C T missense_variant R102K 305G>A SKCM-US 11 119229968 119229968 single base substitution C T missense_variant R136K 407G>A SKCM-US 11 119229968 119229968 single base substitution C T missense_variant R345K 1034G>A SKCM-US 11 119243660 119243660 single base substitution C T downstream_gene_variant SKCM-US 11 119243660 119243660 single base substitution C T intron_variant SKCM-US 11 119243660 119243660 single base substitution C T synonymous_variant K177K 531G>A SKCM-US 11 119243689 119243689 single base substitution G A downstream_gene_variant SKCM-US 11 119243689 119243689 single base substitution G A intron_variant SKCM-US 11 119243689 119243689 single base substitution G A missense_variant R168C 502C>T SKCM-US 11 119243689 119243689 single base substitution G A synonymous_variant ?168 SKCM-US 11 119243747 119243747 single base substitution C T downstream_gene_variant SKCM-US 11 119243747 119243747 single base substitution C T intron_variant SKCM-US 11 119243747 119243747 single base substitution C T synonymous_variant R148R 444G>A SKCM-US 11 119243981 119243981 single base substitution G A intron_variant SKCM-US 11 119243981 119243981 single base substitution G A synonymous_variant S70S 210C>T SKCM-US 11 119244029 119244029 single base substitution G A intron_variant SKCM-US 11 119244029 119244029 single base substitution G A synonymous_variant V54V 162C>T SKCM-US 11 119244171 119244171 single base substitution G A intron_variant SKCM-US 11 119244171 119244171 single base substitution G A missense_variant T7I 20C>T STAD-US 11 119228271 119228271 single base substitution G A downstream_gene_variant STAD-US 11 119228271 119228271 single base substitution G A stop_gained R268* 802C>T STAD-US 11 119228271 119228271 single base substitution G A stop_gained R302* 904C>T STAD-US 11 119228271 119228271 single base substitution G A stop_gained R511* 1531C>T STAD-US 11 119230349 119230349 single base substitution G A exon_variant STAD-US 11 119230349 119230349 single base substitution G A stop_gained Q283* 847C>T STAD-US 11 119230349 119230349 single base substitution G A stop_gained Q40* 118C>T STAD-US 11 119230349 119230349 single base substitution G A stop_gained Q74* 220C>T STAD-US 11 119230923 119230923 single base substitution G A exon_variant STAD-US 11 119230923 119230923 single base substitution G A synonymous_variant L23L 67C>T STAD-US 11 119230923 119230923 single base substitution G A synonymous_variant L266L 796C>T STAD-US 11 119230923 119230923 single base substitution G A synonymous_variant L57L 169C>T STAD-US 11 119243468 119243468 single base substitution C A downstream_gene_variant STAD-US 11 119243468 119243468 single base substitution C A intron_variant STAD-US 11 119243468 119243468 single base substitution C A missense_variant K241N 723G>T STAD-US 11 119243475 119243475 single base substitution G A downstream_gene_variant STAD-US 11 119243475 119243475 single base substitution G A intron_variant STAD-US 11 119243475 119243475 single base substitution G A missense_variant T239M 716C>T STAD-US 11 119243494 119243494 single base substitution G A downstream_gene_variant STAD-US 11 119243494 119243494 single base substitution G A intron_variant STAD-US 11 119243494 119243494 single base substitution G A missense_variant R233C 697C>T STAD-US 11 119243681 119243681 insertion of <=200bp - G downstream_gene_variant STAD-US 11 119243681 119243681 insertion of <=200bp - G frameshift_variant P170P? STAD-US 11 119243681 119243681 insertion of <=200bp - G intron_variant STAD-US 11 119243689 119243689 single base substitution G A downstream_gene_variant STAD-US 11 119243689 119243689 single base substitution G A intron_variant STAD-US 11 119243689 119243689 single base substitution G A missense_variant R168C 502C>T STAD-US 11 119243689 119243689 single base substitution G A synonymous_variant ?168 STAD-US 11 119243862 119243862 deletion of <=200bp C - frameshift_variant G110 STAD-US 11 119243862 119243862 deletion of <=200bp C - intron_variant STAD-US 11 119243939 119243939 single base substitution G A intron_variant STAD-US 11 119243939 119243939 single base substitution G A synonymous_variant D84D 252C>T STAD-US 11 119243941 119243941 single base substitution C T intron_variant STAD-US 11 119243941 119243941 single base substitution C T missense_variant D84N 250G>A STAD-US 11 119243994 119243994 single base substitution T C intron_variant STAD-US 11 119243994 119243994 single base substitution T C missense_variant Y66C 197A>G THCA-US 11 119244101 119244101 single base substitution G A intron_variant THCA-US 11 119244101 119244101 single base substitution G A synonymous_variant Y30Y 90C>T UCEC-US 11 119228505 119228505 single base substitution T G downstream_gene_variant UCEC-US 11 119228505 119228505 single base substitution T G missense_variant K245T 734A>C UCEC-US 11 119228505 119228505 single base substitution T G missense_variant K279T 836A>C UCEC-US 11 119228505 119228505 single base substitution T G missense_variant K488T 1463A>C UCEC-US 11 119228770 119228770 single base substitution C T downstream_gene_variant UCEC-US 11 119228770 119228770 single base substitution C T missense_variant R205Q 614G>A UCEC-US 11 119228770 119228770 single base substitution C T missense_variant R239Q 716G>A UCEC-US 11 119228770 119228770 single base substitution C T missense_variant R448Q 1343G>A UCEC-US 11 119228770 119228770 single base substitution C T splice_region_variant UCEC-US 11 119228771 119228771 single base substitution G A downstream_gene_variant UCEC-US 11 119228771 119228771 single base substitution G A splice_region_variant UCEC-US 11 119228771 119228771 single base substitution G A stop_gained R205* 613C>T UCEC-US 11 119228771 119228771 single base substitution G A stop_gained R239* 715C>T UCEC-US 11 119228771 119228771 single base substitution G A stop_gained R448* 1342C>T UCEC-US 11 119228903 119228903 single base substitution T C downstream_gene_variant UCEC-US 11 119228903 119228903 single base substitution T C exon_variant UCEC-US 11 119228903 119228903 single base substitution T C missense_variant T190A 568A>G UCEC-US 11 119228903 119228903 single base substitution T C missense_variant T224A 670A>G UCEC-US 11 119228903 119228903 single base substitution T C missense_variant T433A 1297A>G UCEC-US 11 119228935 119228935 single base substitution G A downstream_gene_variant UCEC-US 11 119228935 119228935 single base substitution G A exon_variant UCEC-US 11 119228935 119228935 single base substitution G A missense_variant S179L 536C>T UCEC-US 11 119228935 119228935 single base substitution G A missense_variant S213L 638C>T UCEC-US 11 119228935 119228935 single base substitution G A missense_variant S422L 1265C>T UCEC-US 11 119229487 119229487 single base substitution G A exon_variant UCEC-US 11 119229487 119229487 single base substitution G A synonymous_variant I168I 504C>T UCEC-US 11 119229487 119229487 single base substitution G A synonymous_variant I202I 606C>T UCEC-US 11 119229487 119229487 single base substitution G A synonymous_variant I411I 1233C>T UCEC-US 11 119230292 119230292 single base substitution G A exon_variant UCEC-US 11 119230292 119230292 single base substitution G A missense_variant R302W 904C>T UCEC-US 11 119230292 119230292 single base substitution G A missense_variant R59W 175C>T UCEC-US 11 119230292 119230292 single base substitution G A missense_variant R93W 277C>T UCEC-US 11 119243518 119243518 single base substitution T C downstream_gene_variant UCEC-US 11 119243518 119243518 single base substitution T C intron_variant UCEC-US 11 119243518 119243518 single base substitution T C missense_variant S225G 673A>G UCEC-US 11 119243603 119243603 single base substitution G A downstream_gene_variant UCEC-US 11 119243603 119243603 single base substitution G A intron_variant UCEC-US 11 119243603 119243603 single base substitution G A synonymous_variant V196V 588C>T UCEC-US 11 119243959 119243959 single base substitution G A intron_variant UCEC-US 11 119243959 119243959 single base substitution G A missense_variant R78C 232C>T UCEC-US 11 119244150 119244150 single base substitution G A intron_variant UCEC-US 11 119244150 119244150 single base substitution G A missense_variant S14L 41C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EB-A3XB-01 COSM3444192 c.20C>T p.T7I Substitution - Missense 11:119373461-119373461 - TCGA-BR-8368-01 COSM4018553 c.250G>A p.D84N Substitution - Missense 11:119373231-119373231 - TCGA-AM-5821-01 COSM3752178 c.96G>A p.P32P Substitution - coding silent 11:119373385-119373385 - TCGA-BS-A0UF-01 COSM923863 c.41C>T p.S14L Substitution - Missense 11:119373440-119373440 - TCGA-AP-A0LM-01 COSM923861 c.588C>T p.V196V Substitution - coding silent 11:119372893-119372893 - RKO COSM4647263 c.1299G>A p.T433T Substitution - coding silent 11:119358191-119358191 - NCI-H835 COSM2106965 c.495C>A p.N165K Substitution - Missense 11:119372986-119372986 - TCGA-EE-A2A6-06 COSM3444187 c.1483C>T p.P495S Substitution - Missense 11:119357775-119357775 - PR-00-1165 COSM248235 c.301C>T p.R101W Substitution - Missense 11:119373180-119373180 - TCGA-GN-A269-01 COSM3444191 c.210C>T p.S70S Substitution - coding silent 11:119373271-119373271 - KPOPBR-49-T COSM5963422 c.233G>A p.R78H Substitution - Missense 11:119373248-119373248 - TCGA-FW-A3R5-06 COSM3868567 c.1482C>T p.F494F Substitution - coding silent 11:119357776-119357776 - SNUH_G14_S1 COSM3676002 c.1480T>G p.F494V Substitution - Missense 11:119357778-119357778 - C086 COSM5541470 c.1161C>T p.L387L Substitution - coding silent 11:119359035-119359035 - T263 COSM4739684 c.1451G>A p.R484Q Substitution - Missense 11:119357807-119357807 - TCGA-DK-A3IU-01 COSM3791257 c.1452G>T p.R484R Substitution - coding silent 11:119357806-119357806 - J90_T COSM3979182 c.526C>T p.R176C Substitution - Missense 11:119372955-119372955 - TCGA-AP-A056-01 COSM923861 c.588C>T p.V196V Substitution - coding silent 11:119372893-119372893 - CSCC-19-T COSM4514882 c.98C>T p.S33F Substitution - Missense 11:119373383-119373383 - TCGA-29-1770-01 COSM1321861 c.325G>A p.G109R Substitution - Missense 11:119373156-119373156 - PCSI_0224_Pa_P_526 COSM3786993 c.745C>T p.R249C Substitution - Missense 11:119372736-119372736 - TCGA-GF-A6C9-06 COSM4901625 c.162C>T p.V54V Substitution - coding silent 11:119373319-119373319 - RMS10_ COSM2106975 c.185G>A p.R62H Substitution - Missense 11:119373296-119373296 - PD4127a COSM165428 c.1202G>C p.R401T Substitution - Missense 11:119358808-119358808 - 1_RESISTANT COSM1720938 c.1607C>T p.T536I Substitution - Missense 11:119357485-119357485 - TCGA-AY-6197-01 COSM3687019 c.1758G>A p.V586V Substitution - coding silent 11:119356895-119356895 - CSCC-40-T COSM4530732 c.1723G>A p.D575N Substitution - Missense 11:119357194-119357194 - TCGA-HU-A4H8-01 COSM4018549 c.723G>T p.K241N Substitution - Missense 11:119372758-119372758 - cSCCP4 COSM138847 c.1571G>A p.R524K Substitution - Missense 11:119357521-119357521 - TCGA-13-0883-01 COSM73224 c.1065G>C p.Q355H Substitution - Missense 11:119359131-119359131 - TCGA-CA-6717-01 COSM1351881 c.1044G>A p.P348P Substitution - coding silent 11:119359248-119359248 - STC297 COSM1321861 c.325G>A p.G109R Substitution - Missense 11:119373156-119373156 - PCSI_0083_Pa_P_526 COSM3786991 c.1236G>T p.G412G Substitution - coding silent 11:119358774-119358774 - TCGA-AG-A02X-01 COSM5075132 c.949+3G>C p.? Unknown 11:119359534-119359534 - T3091 COSM202266 c.1688G>A p.R563H Substitution - Missense 11:119357229-119357229 - I2L-P19Ta-Tumor-Biopsy COSM5360665 c.74C>T p.S25L Substitution - Missense 11:119373407-119373407 - Pat_32_A COSM5837989 c.509C>T p.P170L Substitution - Missense 11:119372972-119372972 - T3668 COSM4739686 c.478C>T p.R160W Substitution - Missense 11:119373003-119373003 - TCGA-AP-A0LM-01 COSM923852 c.1463A>C p.K488T Substitution - Missense 11:119357795-119357795 - TCGA-AG-3892-01 COSM258331 c.1588G>T p.E530* Substitution - Nonsense 11:119357504-119357504 - SNU-175 COSM2106955 c.768C>T p.D256D Substitution - coding silent 11:119372713-119372713 - BD121T COSM258331 c.1588G>T p.E530* Substitution - Nonsense 11:119357504-119357504 - YUKLAB COSM1704670 c.1276A>G p.T426A Substitution - Missense 11:119358214-119358214 - 587222 COSM1231986 c.839C>A p.S280* Substitution - Nonsense 11:119359647-119359647 - 8069446 COSM2106955 c.768C>T p.D256D Substitution - coding silent 11:119372713-119372713 - ESO-1059 COSM1270052 c.435C>T p.D145D Substitution - coding silent 11:119373046-119373046 - T578 COSM923861 c.588C>T p.V196V Substitution - coding silent 11:119372893-119372893 - TCGA-61-1740-01 COSM1321862 c.1502A>G p.H501R Substitution - Missense 11:119357590-119357590 - TCGA-FP-A4BE-01 COSM4018550 c.716C>T p.T239M Substitution - Missense 11:119372765-119372765 - CSCC-10-T COSM4566675 c.441_442CC>GT p.R148W Substitution - Missense 11:119373039-119373040 - 101 COSM5016377 c.1567_1568insC p.L523fs*>84 Insertion - Frameshift 11:119357524-119357525 - TCGA-CA-6718-01 COSM1351886 c.450C>A p.F150L Substitution - Missense 11:119373031-119373031 - TCGA-B5-A11N-01 COSM923854 c.1343G>A p.R448Q Substitution - Missense 11:119358060-119358060 - TCGA-BR-A4CS-01 COSM4018554 c.197A>G p.Y66C Substitution - Missense 11:119373284-119373284 - TCGA-ER-A19A-06 COSM3444189 c.502C>T p.R168C Substitution - Missense 11:119372979-119372979 - TCGA-BR-8360-01 COSM4018545 c.847C>T p.Q283* Substitution - Nonsense 11:119359639-119359639 - CSCC-29-T COSM4565427 c.209_210CC>TT p.S70F Substitution - Missense 11:119373271-119373272 - CHC320T COSM3765539 c.826-4G>C p.? Unknown 11:119359664-119359664 - CHC2321T COSM3666863 c.133G>C p.E45Q Substitution - Missense 11:119373348-119373348 - 1360-01-01TD COSM3981337 c.867G>A p.R289R Substitution - coding silent 11:119359619-119359619 - YUQUEST COSM5371813 c.397G>A p.G133R Substitution - Missense 11:119373084-119373084 - TCGA-EJ-5519-01 COSM1127883 c.1305C>T p.F435F Substitution - coding silent 11:119358185-119358185 - LB831-BLC COSM24322 c.605A>G p.Y202C Substitution - Missense 11:119372876-119372876 - TCGA-HC-7742-01 COSM3670686 c.1771G>A p.A591T Substitution - Missense 11:119356882-119356882 - TCGA-CZ-4866-01 COSM466455 c.1040C>T p.A347V Substitution - Missense 11:119359252-119359252 - YUROG COSM5371810 c.1083C>T p.F361F Substitution - coding silent 11:119359113-119359113 - C086 COSM5541468 c.897C>T p.L299L Substitution - coding silent 11:119359589-119359589 - TCGA-EE-A181-06 COSM3868571 c.531G>A p.K177K Substitution - coding silent 11:119372950-119372950 - TCGA-A8-A0A6-01 COSM3808565 c.1453T>G p.C485G Substitution - Missense 11:119357805-119357805 - TCGA-GD-A3OP-01 COSM1297724 c.77G>A p.G26D Substitution - Missense 11:119373404-119373404 - TCGA-G9-6371-01 COSM1127881 c.249C>T p.P83P Substitution - coding silent 11:119373232-119373232 - T41 COSM5341422 c.301C>A p.R101R Substitution - coding silent 11:119373180-119373180 - 46 COSM5734318 c.905G>A p.R302Q Substitution - Missense 11:119359581-119359581 - TCGA-NI-A4U2-01 COSM4909676 c.1527G>A p.R509R Substitution - coding silent 11:119357565-119357565 - TCGA-AA-A00N-01 COSM278030 c.287C>T p.T96I Substitution - Missense 11:119373194-119373194 - TCGA-18-5595-01 COSM686882 c.433G>A p.D145N Substitution - Missense 11:119373048-119373048 - TCGA-AP-A054-01 COSM923856 c.1297A>G p.T433A Substitution - Missense 11:119358193-119358193 - TCGA-BR-6452-01 COSM4018552 c.252C>T p.D84D Substitution - coding silent 11:119373229-119373229 - TCGA-EE-A2MR-06 COSM3444190 c.444G>A p.R148R Substitution - coding silent 11:119373037-119373037 - PTC-7C COSM3752178 c.96G>A p.P32P Substitution - coding silent 11:119373385-119373385 - 1_PRE-TREATMENT COSM1720938 c.1607C>T p.T536I Substitution - Missense 11:119357485-119357485 - Au4 COSM5605301 c.1642A>G p.N548D Substitution - Missense 11:119357275-119357275 - T1240 COSM4739681 c.1650C>T p.S550S Substitution - coding silent 11:119357267-119357267 - PCSI_0509_Pa_P_526 COSM4962036 c.888C>A p.L296L Substitution - coding silent 11:119359598-119359598 - TCGA-BS-A0TE-01 COSM923853 c.1409G>A p.G470E Substitution - Missense 11:119357994-119357994 - UACC-257 COSM1676504 c.226C>T p.R76W Substitution - Missense 11:119373255-119373255 - I2L-P19Ta-Tumor-Organoid COSM5360665 c.74C>T p.S25L Substitution - Missense 11:119373407-119373407 - CSCC-31-T COSM3444191 c.210C>T p.S70S Substitution - coding silent 11:119373271-119373271 - HT115 COSM2106948 c.857G>A p.S286N Substitution - Missense 11:119359629-119359629 - NCI-H747 COSM2106954 c.769G>A p.G257S Substitution - Missense 11:119372712-119372712 - MO_1241 COSM5554214 c.1313T>A p.F438Y Substitution - Missense 11:119358177-119358177 - TCGA-B5-A11E-01 COSM923862 c.232C>T p.R78C Substitution - Missense 11:119373249-119373249 - PT44 COSM5926812 c.1312T>C p.F438L Substitution - Missense 11:119358178-119358178 - 587342 COSM1231987 c.553C>T p.L185F Substitution - Missense 11:119372928-119372928 - T2269 COSM4739688 c.287C>A p.T96N Substitution - Missense 11:119373194-119373194 - LUAD-YINHD COSM348353 c.1323C>G p.L441L Substitution - coding silent 11:119358167-119358167 - ESCC-005T COSM3935342 c.577G>A p.E193K Substitution - Missense 11:119372904-119372904 - C467 COSM4441911 c.1301T>A p.V434D Substitution - Missense 11:119358189-119358189 - TCGA-A6-6141-01 COSM1351880 c.1498C>T p.L500F Substitution - Missense 11:119357760-119357760 - YUKAT COSM5371812 c.749C>T p.S250F Substitution - Missense 11:119372732-119372732 - T1154 COSM4739687 c.374T>C p.L125P Substitution - Missense 11:119373107-119373107 - TCGA-A6-6781-01 COSM1351885 c.474C>T p.S158S Substitution - coding silent 11:119373007-119373007 - TCGA-AP-A0LM-01 COSM923858 c.1233C>T p.I411I Substitution - coding silent 11:119358777-119358777 - AOCS-166-1-2 COSM3981339 c.525G>A p.T175T Substitution - coding silent 11:119372956-119372956 - TCGA-D9-A6EC-06 COSM4400888 c.1034G>A p.R345K Substitution - Missense 11:119359258-119359258 - Pat_26_A COSM2106954 c.769G>A p.G257S Substitution - Missense 11:119372712-119372712 - TCGA-FW-A3R5-06 COSM3868569 c.1087C>T p.R363C Substitution - Missense 11:119359109-119359109 - TCGA-D5-6930-01 COSM1351879 c.1678G>A p.A560T Substitution - Missense 11:119357239-119357239 - T613 COSM2106972 c.238delC p.L80fs*2 Deletion - Frameshift 11:119373243-119373243 - TCGA-CJ-5683-01 COSM466456 c.580T>C p.Y194H Substitution - Missense 11:119372901-119372901 - T3024 COSM376163 c.1501+1G>A p.? Unknown 11:119357756-119357756 - CHC2321T COSM3666863 c.133G>C p.E45Q Substitution - Missense 11:119373348-119373348 - TCGA-CD-A4MG-01 COSM4018547 c.796C>T p.L266L Substitution - coding silent 11:119360213-119360213 - HCC75T COSM1604201 c.223G>C p.D75H Substitution - Missense 11:119373258-119373258 - 0093_CRUK_PC_0093_T1_DNA COSM4420190 c.1123C>T p.R375* Substitution - Nonsense 11:119359073-119359073 - TCGA-EE-A29G-06 COSM2106942 c.1042C>T p.P348S Substitution - Missense 11:119359250-119359250 - PA285 COSM1162936 c.1649C>T p.S550F Substitution - Missense 11:119357268-119357268 - ESCC_109 COSM923859 c.904C>T p.R302W Substitution - Missense 11:119359582-119359582 - TCGA-DV-5575-01 COSM3359045 c.1151C>A p.P384H Substitution - Missense 11:119359045-119359045 - PCSI_0124_Pa_X COSM3375688 c.503G>A p.R168H Substitution - Missense 11:119372978-119372978 - CCRF-CEM COSM1676502 c.1189C>T p.R397* Substitution - Nonsense 11:119358821-119358821 - TCGA-AP-A0LM-01 COSM923857 c.1265C>T p.S422L Substitution - Missense 11:119358225-119358225 - TCGA-D1-A177-01 COSM923859 c.904C>T p.R302W Substitution - Missense 11:119359582-119359582 - I2L-P19Ta-Tumor-Organoid COSM2106972 c.238delC p.L80fs*2 Deletion - Frameshift 11:119373243-119373243 - TCGA-BR-8591-01 COSM4018543 c.1531C>T p.R511* Substitution - Nonsense 11:119357561-119357561 - CRC-29T COSM5452192 c.1045C>T p.R349C Substitution - Missense 11:119359247-119359247 - LUAD-NYU704 COSM376163 c.1501+1G>A p.? Unknown 11:119357756-119357756 - TCGA-F5-6814-01 COSM3415600 c.1510C>T p.R504W Substitution - Missense 11:119357582-119357582 - TCGA-AY-6197-01 COSM3687127 c.626C>A p.S209Y Substitution - Missense 11:119372855-119372855 - MO_1118 COSM3375688 c.503G>A p.R168H Substitution - Missense 11:119372978-119372978 - 2292381 COSM4610142 c.1432C>T p.R478C Substitution - Missense 11:119357826-119357826 - TCGA-AG-A025-01 COSM290954 c.908_909AC>CA p.D303A Substitution - Missense 11:119359577-119359578 - PTC-7C COSM4145397 c.551G>T p.G184V Substitution - Missense 11:119372930-119372930 - TCGA-AA-3663-01 COSM1351883 c.728A>G p.Q243R Substitution - Missense 11:119372753-119372753 - PCSI_0124_Pa_P COSM3375688 c.503G>A p.R168H Substitution - Missense 11:119372978-119372978 - TCGA-EE-A2GB-06 COSM3444185 c.1565C>T p.P522L Substitution - Missense 11:119357527-119357527 - T13 COSM3752178 c.96G>A p.P32P Substitution - coding silent 11:119373385-119373385 - ESCC_93 COSM5637185 c.333C>T p.S111S Substitution - coding silent 11:119373148-119373148 - TCGA-61-2111-01 COSM80727 c.1632C>T p.Y544Y Substitution - coding silent 11:119357285-119357285 - TCGA-BS-A0UJ-01 COSM923860 c.673A>G p.S225G Substitution - Missense 11:119372808-119372808 - 49M COSM5593897 c.737G>A p.G246E Substitution - Missense 11:119372744-119372744 - YURTHE COSM1704672 c.907G>A p.D303N Substitution - Missense 11:119359579-119359579 - HCC75 COSM1604201 c.223G>C p.D75H Substitution - Missense 11:119373258-119373258 - LUAD-YINHD COSM348352 c.1368G>T p.M456I Substitution - Missense 11:119358035-119358035 - TCGA-BR-7851-01 COSM4018551 c.697C>T p.R233C Substitution - Missense 11:119372784-119372784 - AOCS-125-1-2 COSM3981337 c.867G>A p.R289R Substitution - coding silent 11:119359619-119359619 - 22T COSM110183 c.723G>A p.K241K Substitution - coding silent 11:119372758-119372758 - 587224 COSM1231985 c.1172+1G>A p.? Unknown 11:119359023-119359023 - TCGA-BR-A4J7-01 COSM3444189 c.502C>T p.R168C Substitution - Missense 11:119372979-119372979 - TCGA-FK-A3SH-01 COSM3368250 c.90C>T p.Y30Y Substitution - coding silent 11:119373391-119373391 - TCGA-A5-A0VP-01 COSM923855 c.1342C>T p.R448* Substitution - Nonsense 11:119358061-119358061 - 8067203 COSM3769207 c.1609+3G>A p.? Unknown 11:119357480-119357480 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.524085 11q23.3 604725 2449018|CGAP|BC002854|C/T|coding|Tyr346Tyr|1213|Validated; 2449018|CGAP|BC002955|C/T|coding|Tyr346Tyr|1213|Validated; 2449018|CGAP|BC041366|C/T|coding|Tyr103Tyr|502|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y194H c.580T>C 11 119243611 RCCC A T Synonymous p.P380P c.1140T>A 11 119229766 HNSC C A Synonymous p.R484R c.1452G>T 11 119228516 BLCA C G Missense p.Q355H c.1065G>C 11 119229841 OV C G Missense p.R401T c.1202G>C 11 119229518 BRCA C T Missense p.A591T c.1771G>A 11 119227592 PRAD C T Missense p.D145N c.433G>A 11 119243758 LUSC C T Missense p.G26D c.77G>A 11 119244114 BLCA C T Missense p.R229Q c.686G>A 11 119243505 CM C T Synonymous p.K177K c.531G>A 11 119243660 CM G A IntronicSNV . c.1062-12C>T 11 119229856 CM G A Missense p.A347V c.1040C>T 11 119229962 RCCC G A Missense p.P348S c.1042C>T 11 119229960 CM G A Missense p.P495S c.1483C>T 11 119228485 CM G A Missense p.P522L c.1565C>T 11 119228237 CM G A Missense p.R168C c.502C>T 11 119243689 CM G A Missense p.R302W c.904C>T 11 119230292 UCEC G A Missense p.R406W c.1216C>T 11 119229504 BRCA G A Missense p.T235M c.704C>T 11 119243487 COREAD G A Nonsense p.Q138* c.412C>T 11 119243779 CM G A Nonsense p.R448* c.1342C>T 11 119228771 UCEC G A Synonymous p.D145D c.435C>T 11 119243756 ESCA G A Synonymous p.F435F c.1305C>T 11 119228895 PRAD G A Synonymous p.P83P c.249C>T 11 119243942 PRAD G A Synonymous p.S70S c.210C>T 11 119243981 CM G A Synonymous p.Y30Y c.90C>T 11 119244101 THCA G A Synonymous p.Y544Y c.1632C>T 11 119227995 OV GG AA SpliceDonorBlockSubstitution . c.1171_1172delinsTT 11 119229734 CM G T Missense p.P384H c.1151C>A 11 119229755 RCCC G T Synonymous p.L107L c.321C>A 11 119243870 HNSC GT TG Missense p.D303A c.908_909delinsCA 11 119230287 COREAD T C Missense p.T433A c.1297A>G 11 119228903 UCEC T - IntronicDeletion . c.1062-2delA 11 119229846 GBM