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 61099071 61099071 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr11:61099071C>T c.154G>A c.(154-156)Gtc>Atc p.V52I BLCA 11 61067688 61067688 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr11:61067688C>T c.3343G>A c.(3343-3345)Gac>Aac p.D1115N BLCA 11 61070177 61070177 + Missense_Mutation SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr11:61070177G>A c.2989C>T c.(2989-2991)Ctt>Ttt p.L997F BLCA 11 61071442 61071442 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr11:61071442G>A c.2727C>T c.(2725-2727)atC>atT p.I909I BLCA 11 61076542 61076542 + Silent SNP T T C TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr11:61076542T>C c.2574A>G c.(2572-2574)ctA>ctG p.L858L BLCA 11 61081359 61081359 + Missense_Mutation SNP G G C TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr11:61081359G>C c.1836C>G c.(1834-1836)ttC>ttG p.F612L BLCA 11 61081799 61081799 + Nonsense_Mutation SNP G G A TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr11:61081799G>A c.1570C>T c.(1570-1572)Cag>Tag p.Q524* BLCA 11 61083760 61083760 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr11:61083760G>C c.1407C>G c.(1405-1407)atC>atG p.I469M BLCA 11 61083813 61083813 + Missense_Mutation SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 g.chr11:61083813C>T c.1354G>A c.(1354-1356)Gtg>Atg p.V452M BLCA 11 61083866 61083866 + Splice_Site SNP C C T TCGA-UY-A9PD-01A-11D-A38G-08 TCGA-UY-A9PD-10A-01D-A38J-08 g.chr11:61083866C>T c.e12-1 BLCA 11 61099151 61099151 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr11:61099151G>A c.74C>T c.(73-75)tCg>tTg p.S25L BRCA 11 61068352 61068352 + Missense_Mutation SNP C C T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 g.chr11:61068352C>T c.3268G>A c.(3268-3270)Gac>Aac p.D1090N BRCA 11 61068381 61068382 + Frame_Shift_Del DEL CG CG - TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 g.chr11:61068381_61068382delCG c.3238_3239delCG c.(3238-3240)cggfs p.R1080fs BRCA 11 61071447 61071447 + Missense_Mutation SNP T T G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 g.chr11:61071447T>G c.2722A>C c.(2722-2724)Aac>Cac p.N908H BRCA 11 61081077 61081077 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr11:61081077G>A c.1963C>T c.(1963-1965)Cgc>Tgc p.R655C BRCA 11 61081549 61081549 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr11:61081549C>T c.1723G>A c.(1723-1725)Gaa>Aaa p.E575K BRCA 11 61093120 61093120 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 g.chr11:61093120C>T c.725G>A c.(724-726)gGt>gAt p.G242D BRCA 11 61093160 61093160 + Frame_Shift_Del DEL C C - TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr11:61093160delC c.685delG c.(685-687)gccfs p.A229fs BRCA 11 61094351 61094351 + Silent SNP C C T TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 g.chr11:61094351C>T c.564G>A c.(562-564)cgG>cgA p.R188R BRCA 11 61099077 61099077 + Missense_Mutation SNP G G A TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chr11:61099077G>A c.148C>T c.(148-150)Cgg>Tgg p.R50W CESC 11 61070628 61070628 + Splice_Site SNP C C T TCGA-C5-A7X3-01A-11D-A351-09 TCGA-C5-A7X3-10A-01D-A351-09 g.chr11:61070628C>T c.e23-1 CESC 11 61084025 61084025 + Missense_Mutation SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr11:61084025G>A c.1240C>T c.(1240-1242)Cgg>Tgg p.R414W CESC 11 61096837 61096837 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr11:61096837G>A c.547C>T c.(547-549)Cag>Tag p.Q183* COAD 11 61070070 61070070 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:61070070C>T c.3096G>A c.(3094-3096)acG>acA p.T1032T COAD 11 61070139 61070139 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr11:61070139G>A c.3027C>T c.(3025-3027)caC>caT p.H1009H COAD 11 61077421 61077421 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr11:61077421G>A c.2413C>T c.(2413-2415)Cac>Tac p.H805Y COAD 11 61077781 61077781 + Missense_Mutation SNP T T C TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr11:61077781T>C c.2387A>G c.(2386-2388)cAa>cGa p.Q796R COAD 11 61079463 61079463 + Silent SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr11:61079463T>C c.2163A>G c.(2161-2163)ccA>ccG p.P721P COAD 11 61079464 61079464 + Missense_Mutation SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr11:61079464G>A c.2162C>T c.(2161-2163)cCa>cTa p.P721L COAD 11 61079464 61079464 + Missense_Mutation SNP G G A TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr11:61079464G>A c.2162C>T c.(2161-2163)cCa>cTa p.P721L COAD 11 61079464 61079464 + Missense_Mutation SNP G G T TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr11:61079464G>T c.2162C>A c.(2161-2163)cCa>cAa p.P721Q COAD 11 61081667 61081667 + Silent SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:61081667T>C c.1605A>G c.(1603-1605)gaA>gaG p.E535E COAD 11 61081668 61081668 + Missense_Mutation SNP T T C TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr11:61081668T>C c.1604A>G c.(1603-1605)gAa>gGa p.E535G COAD 11 61081668 61081668 + Missense_Mutation SNP T T C TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chr11:61081668T>C c.1604A>G c.(1603-1605)gAa>gGa p.E535G COAD 11 61081929 61081929 + Silent SNP A A C TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr11:61081929A>C c.1440T>G c.(1438-1440)tcT>tcG p.S480S COAD 11 61081949 61081949 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr11:61081949C>T c.1420G>A c.(1420-1422)Gca>Aca p.A474T COAD 11 61090531 61090531 + Silent SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr11:61090531A>G c.957T>C c.(955-957)aaT>aaC p.N319N COAD 11 61091584 61091584 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr11:61091584C>T c.788G>A c.(787-789)cGa>cAa p.R263Q COAD 11 61093160 61093160 + Frame_Shift_Del DEL C C - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr11:61093160delC c.685delG c.(685-687)gccfs p.A229fs COAD 11 61094347 61094347 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr11:61094347C>T c.568G>A c.(568-570)Gta>Ata p.V190I COAD 11 61097052 61097052 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr11:61097052C>T c.332G>A c.(331-333)cGc>cAc p.R111H COAD 11 61097465 61097465 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr11:61097465T>C c.292A>G c.(292-294)Att>Gtt p.I98V COAD 11 61099102 61099102 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:61099102G>A c.123C>T c.(121-123)atC>atT p.I41I COADREAD 11 61070070 61070070 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr11:61070070C>T c.3096G>A c.(3094-3096)acG>acA p.T1032T COADREAD 11 61070139 61070139 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr11:61070139G>A c.3027C>T c.(3025-3027)caC>caT p.H1009H COADREAD 11 61070162 61070162 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:61070162C>T c.3004G>A c.(3004-3006)Gag>Aag p.E1002K COADREAD 11 61077421 61077421 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr11:61077421G>A c.2413C>T c.(2413-2415)Cac>Tac p.H805Y COADREAD 11 61077781 61077781 + Missense_Mutation SNP T T C TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr11:61077781T>C c.2387A>G c.(2386-2388)cAa>cGa p.Q796R COADREAD 11 61079463 61079463 + Silent SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr11:61079463T>C c.2163A>G c.(2161-2163)ccA>ccG p.P721P COADREAD 11 61079464 61079464 + Missense_Mutation SNP G G A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr11:61079464G>A c.2162C>T c.(2161-2163)cCa>cTa p.P721L COADREAD 11 61079464 61079464 + Missense_Mutation SNP G G A TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr11:61079464G>A c.2162C>T c.(2161-2163)cCa>cTa p.P721L COADREAD 11 61079464 61079464 + Missense_Mutation SNP G G T TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr11:61079464G>T c.2162C>A c.(2161-2163)cCa>cAa p.P721Q COADREAD 11 61081667 61081667 + Silent SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:61081667T>C c.1605A>G c.(1603-1605)gaA>gaG p.E535E COADREAD 11 61081668 61081668 + Missense_Mutation SNP T T C TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr11:61081668T>C c.1604A>G c.(1603-1605)gAa>gGa p.E535G COADREAD 11 61081668 61081668 + Missense_Mutation SNP T T C TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chr11:61081668T>C c.1604A>G c.(1603-1605)gAa>gGa p.E535G COADREAD 11 61081929 61081929 + Silent SNP A A C TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr11:61081929A>C c.1440T>G c.(1438-1440)tcT>tcG p.S480S COADREAD 11 61081949 61081949 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr11:61081949C>T c.1420G>A c.(1420-1422)Gca>Aca p.A474T COADREAD 11 61089810 61089810 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:61089810G>A c.1080C>T c.(1078-1080)gtC>gtT p.V360V COADREAD 11 61090520 61090520 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:61090520A>C c.968T>G c.(967-969)tTt>tGt p.F323C COADREAD 11 61090531 61090531 + Silent SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr11:61090531A>G c.957T>C c.(955-957)aaT>aaC p.N319N COADREAD 11 61091584 61091584 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr11:61091584C>T c.788G>A c.(787-789)cGa>cAa p.R263Q COADREAD 11 61093160 61093160 + Frame_Shift_Del DEL C C - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr11:61093160delC c.685delG c.(685-687)gccfs p.A229fs COADREAD 11 61094347 61094347 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr11:61094347C>T c.568G>A c.(568-570)Gta>Ata p.V190I COADREAD 11 61097052 61097052 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr11:61097052C>T c.332G>A c.(331-333)cGc>cAc p.R111H COADREAD 11 61097465 61097465 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr11:61097465T>C c.292A>G c.(292-294)Att>Gtt p.I98V COADREAD 11 61099102 61099102 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:61099102G>A c.123C>T c.(121-123)atC>atT p.I41I ESCA 11 61068328 61068328 + Silent SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr11:61068328G>A c.3292C>T c.(3292-3294)Ctg>Ttg p.L1098L ESCA 11 61071386 61071386 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr11:61071386C>T c.2783G>A c.(2782-2784)cGc>cAc p.R928H ESCA 11 61091537 61091537 + Missense_Mutation SNP G G A TCGA-VR-AA4G-01A-11D-A37C-09 TCGA-VR-AA4G-10A-01D-A37F-09 g.chr11:61091537G>A c.835C>T c.(835-837)Cgg>Tgg p.R279W GBM 11 61079499 61079499 + Missense_Mutation SNP C C G TCGA-06-1804-01A-01D-1696-08 TCGA-06-1804-10A-01D-1696-08 g.chr11:61079499C>G c.2127G>C c.(2125-2127)aaG>aaC p.K709N GBMLGG 11 61070156 61070156 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:61070156C>T c.3010G>A c.(3010-3012)Gtc>Atc p.V1004I GBMLGG 11 61079499 61079499 + Missense_Mutation SNP C C G TCGA-06-1804-01A-01D-1696-08 TCGA-06-1804-10A-01D-1696-08 g.chr11:61079499C>G c.2127G>C c.(2125-2127)aaG>aaC p.K709N HNSC 11 61067677 61067677 + Silent SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 g.chr11:61067677G>A c.3354C>T c.(3352-3354)agC>agT p.S1118S HNSC 11 61067685 61067685 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 g.chr11:61067685C>A c.3346G>T c.(3346-3348)Gat>Tat p.D1116Y HNSC 11 61069779 61069779 + Silent SNP C C T TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr11:61069779C>T c.3165G>A c.(3163-3165)caG>caA p.Q1055Q HNSC 11 61070101 61070101 + Missense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr11:61070101G>A c.3065C>T c.(3064-3066)aCc>aTc p.T1022I HNSC 11 61070124 61070124 + Missense_Mutation SNP C C A TCGA-F7-A622-01A-11D-A28R-08 TCGA-F7-A622-10A-01D-A28U-08 g.chr11:61070124C>A c.3042G>T c.(3040-3042)atG>atT p.M1014I HNSC 11 61080987 61080987 + Missense_Mutation SNP C C T TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr11:61080987C>T c.2053G>A c.(2053-2055)Gat>Aat p.D685N HNSC 11 61081939 61081939 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr11:61081939C>T c.1430G>A c.(1429-1431)aGg>aAg p.R477K HNSC 11 61084032 61084032 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr11:61084032C>T c.1233G>A c.(1231-1233)tgG>tgA p.W411* HNSC 11 61089130 61089130 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 g.chr11:61089130G>A c.1162C>T c.(1162-1164)Cgg>Tgg p.R388W HNSC 11 61090509 61090509 + Missense_Mutation SNP G G A TCGA-CR-7382-01A-11D-2129-08 TCGA-CR-7382-10A-01D-2129-08 g.chr11:61090509G>A c.979C>T c.(979-981)Cgc>Tgc p.R327C HNSC 11 61094321 61094321 + Silent SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr11:61094321T>A c.594A>T c.(592-594)cgA>cgT p.R198R HNSC 11 61097015 61097015 + Silent SNP G G T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 g.chr11:61097015G>T c.369C>A c.(367-369)atC>atA p.I123I KICH 11 61081572 61081572 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr11:61081572C>T c.1700G>A c.(1699-1701)cGt>cAt p.R567H KIPAN 11 61070127 61070127 + Silent SNP T T C TCGA-BP-5192-01A-01D-1429-08 TCGA-BP-5192-11A-01D-1429-08 g.chr11:61070127T>C c.3039A>G c.(3037-3039)gtA>gtG p.V1013V KIPAN 11 61077796 61077796 + Missense_Mutation SNP A A G TCGA-BQ-7050-01A-11D-1961-08 TCGA-BQ-7050-11A-01D-1961-08 g.chr11:61077796A>G c.2372T>C c.(2371-2373)cTa>cCa p.L791P KIPAN 11 61079364 61079364 + Silent SNP C C T TCGA-Y8-A898-01A-11D-A34Z-10 TCGA-Y8-A898-10A-01D-A34Z-10 g.chr11:61079364C>T c.2169G>A c.(2167-2169)aaG>aaA p.K723K KIPAN 11 61081149 61081149 + Missense_Mutation SNP A A C TCGA-AK-3431-01A-02D-1361-10 TCGA-AK-3431-10A-01D-1361-10 g.chr11:61081149A>C c.1891T>G c.(1891-1893)Ttg>Gtg p.L631V KIPAN 11 61081572 61081572 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr11:61081572C>T c.1700G>A c.(1699-1701)cGt>cAt p.R567H KIPAN 11 61081631 61081632 + Missense_Mutation DNP TC TC AT TCGA-CZ-5462-01A-01D-1501-10 TCGA-CZ-5462-11A-01D-1501-10 g.chr11:61081631_61081632TC>AT c.1640_1641GA>AT c.(1639-1641)gGA>gAT p.G547D KIRC 11 61070127 61070127 + Silent SNP T T C TCGA-BP-5192-01A-01D-1429-08 TCGA-BP-5192-11A-01D-1429-08 g.chr11:61070127T>C c.3039A>G c.(3037-3039)gtA>gtG p.V1013V KIRC 11 61081149 61081149 + Missense_Mutation SNP A A C TCGA-AK-3431-01A-02D-1361-10 TCGA-AK-3431-10A-01D-1361-10 g.chr11:61081149A>C c.1891T>G c.(1891-1893)Ttg>Gtg p.L631V KIRC 11 61081631 61081632 + Missense_Mutation DNP TC TC AT TCGA-CZ-5462-01A-01D-1501-10 TCGA-CZ-5462-11A-01D-1501-10 g.chr11:61081631_61081632TC>AT c.1640_1641GA>AT c.(1639-1641)gGA>gAT p.G547D KIRP 11 61077796 61077796 + Missense_Mutation SNP A A G TCGA-BQ-7050-01A-11D-1961-08 TCGA-BQ-7050-11A-01D-1961-08 g.chr11:61077796A>G c.2372T>C c.(2371-2373)cTa>cCa p.L791P KIRP 11 61079364 61079364 + Silent SNP C C T TCGA-Y8-A898-01A-11D-A34Z-10 TCGA-Y8-A898-10A-01D-A34Z-10 g.chr11:61079364C>T c.2169G>A c.(2167-2169)aaG>aaA p.K723K LGG 11 61070156 61070156 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:61070156C>T c.3010G>A c.(3010-3012)Gtc>Atc p.V1004I LIHC 11 61090560 61090560 + Missense_Mutation SNP T T C TCGA-DD-AADJ-01A-11D-A40R-10 TCGA-DD-AADJ-10A-01D-A40U-10 g.chr11:61090560T>C c.928A>G c.(928-930)Att>Gtt p.I310V LIHC 11 61091480 61091480 + Nonsense_Mutation SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr11:61091480T>A c.892A>T c.(892-894)Aag>Tag p.K298* LIHC 11 61096943 61096943 + Silent SNP G G A TCGA-CC-A5UE-01A-11D-A28X-10 TCGA-CC-A5UE-10A-01D-A28X-10 g.chr11:61096943G>A c.441C>T c.(439-441)cgC>cgT p.R147R LIHC 11 61097043 61097043 + Missense_Mutation SNP C C A TCGA-2Y-A9H9-01A-21D-A38X-10 TCGA-2Y-A9H9-10A-01D-A38X-10 g.chr11:61097043C>A c.341G>T c.(340-342)cGc>cTc p.R114L LIHC 11 61097525 61097525 + Missense_Mutation SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr11:61097525A>G c.232T>C c.(232-234)Ttt>Ctt p.F78L LUAD 11 61067671 61067671 + Missense_Mutation SNP C C A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr11:61067671C>A c.3360G>T c.(3358-3360)atG>atT p.M1120I LUAD 11 61077340 61077340 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr11:61077340C>T c.2494G>A c.(2494-2496)Ggc>Agc p.G832S LUAD 11 61077401 61077401 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr11:61077401T>C c.2433A>G c.(2431-2433)gaA>gaG p.E811E LUAD 11 61079460 61079460 + Splice_Site SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr11:61079460C>G c.e17+1 LUAD 11 61081103 61081103 + Missense_Mutation SNP G G A TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr11:61081103G>A c.1937C>T c.(1936-1938)aCc>aTc p.T646I LUAD 11 61081147 61081147 + Missense_Mutation SNP C C G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 g.chr11:61081147C>G c.1893G>C c.(1891-1893)ttG>ttC p.L631F LUAD 11 61081431 61081431 + Frame_Shift_Del DEL A A - TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr11:61081431delA c.1764delT c.(1762-1764)cctfs p.P588fs LUAD 11 61081540 61081540 + Missense_Mutation SNP G G A TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 g.chr11:61081540G>A c.1732C>T c.(1732-1734)Cac>Tac p.H578Y LUAD 11 61081950 61081950 + Silent SNP T T C TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr11:61081950T>C c.1419A>G c.(1417-1419)tcA>tcG p.S473S LUAD 11 61084007 61084007 + Nonsense_Mutation SNP C C A TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr11:61084007C>A c.1258G>T c.(1258-1260)Gag>Tag p.E420* LUAD 11 61084039 61084039 + Splice_Site SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr11:61084039C>A c.1226G>T c.(1225-1227)gGa>gTa p.G409V LUAD 11 61089773 61089773 + Missense_Mutation SNP C C A TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr11:61089773C>A c.1117G>T c.(1117-1119)Ggg>Tgg p.G373W LUAD 11 61091481 61091481 + Silent SNP G G C TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr11:61091481G>C c.891C>G c.(889-891)ctC>ctG p.L297L LUAD 11 61094347 61094347 + Missense_Mutation SNP C C A TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr11:61094347C>A c.568G>T c.(568-570)Gta>Tta p.V190L LUAD 11 61096852 61096852 + Missense_Mutation SNP T T C TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr11:61096852T>C c.532A>G c.(532-534)Att>Gtt p.I178V LUAD 11 61097030 61097030 + Silent SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr11:61097030G>A c.354C>T c.(352-354)acC>acT p.T118T LUAD 11 61099118 61099118 + Missense_Mutation SNP T T G TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr11:61099118T>G c.107A>C c.(106-108)aAc>aCc p.N36T LUSC 11 61067618 61067618 + Missense_Mutation SNP C C T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr11:61067618C>T c.3413G>A c.(3412-3414)cGg>cAg p.R1138Q LUSC 11 61067638 61067638 + Missense_Mutation SNP C C A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 g.chr11:61067638C>A c.3393G>T c.(3391-3393)aaG>aaT p.K1131N LUSC 11 61070589 61070589 + Silent SNP C C A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr11:61070589C>A c.2871G>T c.(2869-2871)gtG>gtT p.V957V LUSC 11 61070621 61070621 + Silent SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr11:61070621G>T c.2839C>A c.(2839-2841)Cga>Aga p.R947R LUSC 11 61071505 61071505 + Silent SNP C C T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr11:61071505C>T c.2664G>A c.(2662-2664)gtG>gtA p.V888V LUSC 11 61081072 61081072 + Silent SNP G G T TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 g.chr11:61081072G>T c.1968C>A c.(1966-1968)ccC>ccA p.P656P LUSC 11 61083759 61083759 + Missense_Mutation SNP G G T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr11:61083759G>T c.1408C>A c.(1408-1410)Cag>Aag p.Q470K OV 11 61079255 61079256 + Splice_Site DNP CC CC AA TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 g.chr11:61079255_61079256CC>AA c.2277_2278GG>TT c.(2275-2280)caGGct>caTTct p.759_760QA>HS OV 11 61079464 61079464 + Missense_Mutation SNP G G A TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 g.chr11:61079464G>A c.2162C>T c.(2161-2163)cCa>cTa p.P721L OV 11 61081669 61081669 + Missense_Mutation SNP C C G TCGA-25-1627-01A-01W-0615-10 TCGA-25-1627-10A-01W-0615-10 g.chr11:61081669C>G c.1603G>C c.(1603-1605)Gaa>Caa p.E535Q OV 11 61083826 61083826 + Silent SNP T T C TCGA-36-2539-01A-01D-1526-09 TCGA-36-2539-10A-01D-1526-09 g.chr11:61083826T>C c.1341A>G c.(1339-1341)gaA>gaG p.E447E PAAD 11 61068386 61068386 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:61068386G>A c.3234C>T c.(3232-3234)acC>acT p.T1078T PAAD 11 61068395 61068395 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:61068395G>T c.3225C>A c.(3223-3225)tcC>tcA p.S1075S PAAD 11 61070620 61070620 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr11:61070620C>A c.2840G>T c.(2839-2841)cGa>cTa p.R947L PAAD 11 61079518 61079518 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:61079518G>A c.2108C>T c.(2107-2109)aCc>aTc p.T703I PAAD 11 61080983 61080983 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:61080983C>T c.2057G>A c.(2056-2058)gGc>gAc p.G686D PAAD 11 61083828 61083828 + Nonsense_Mutation SNP C C A TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr11:61083828C>A c.1339G>T c.(1339-1341)Gaa>Taa p.E447* PRAD 11 61068375 61068375 + Missense_Mutation SNP G G T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 g.chr11:61068375G>T c.3245C>A c.(3244-3246)aCa>aAa p.T1082K PRAD 11 61079290 61079290 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr11:61079290C>T c.2243G>A c.(2242-2244)gGc>gAc p.G748D READ 11 61070162 61070162 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr11:61070162C>T c.3004G>A c.(3004-3006)Gag>Aag p.E1002K READ 11 61089810 61089810 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:61089810G>A c.1080C>T c.(1078-1080)gtC>gtT p.V360V READ 11 61090520 61090520 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr11:61090520A>C c.968T>G c.(967-969)tTt>tGt p.F323C SARC 11 61089859 61089859 + Missense_Mutation SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 g.chr11:61089859C>T c.1031G>A c.(1030-1032)gGc>gAc p.G344D SKCM 11 61070583 61070583 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr11:61070583G>A c.2877C>T c.(2875-2877)atC>atT p.I959I SKCM 11 61070607 61070607 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr11:61070607G>A c.2853C>T c.(2851-2853)ccC>ccT p.P951P SKCM 11 61076533 61076534 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr11:61076533_61076534delCA c.2582_2583delTG c.(2581-2583)gtgfs p.V861fs SKCM 11 61079489 61079489 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr11:61079489G>A c.2137C>T c.(2137-2139)Cgc>Tgc p.R713C SKCM 11 61081357 61081357 + Missense_Mutation SNP T T C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr11:61081357T>C c.1838A>G c.(1837-1839)tAc>tGc p.Y613C SKCM 11 61083814 61083814 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 g.chr11:61083814G>A c.1353C>T c.(1351-1353)ttC>ttT p.F451F SKCM 11 61090509 61090509 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 g.chr11:61090509G>A c.979C>T c.(979-981)Cgc>Tgc p.R327C SKCM 11 61093105 61093105 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr11:61093105G>A c.740C>T c.(739-741)gCt>gTt p.A247V SKCM 11 61094298 61094298 + Missense_Mutation SNP G G A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 g.chr11:61094298G>A c.617C>T c.(616-618)cCt>cTt p.P206L SKCM 11 61094299 61094299 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr11:61094299G>A c.616C>T c.(616-618)Cct>Tct p.P206S SKCM 11 61096997 61096997 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr11:61096997C>T c.387G>A c.(385-387)cgG>cgA p.R129R

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 61077397 61077397 single base substitution C T 5_prime_UTR_variant BLCA-CN 11 61077397 61077397 single base substitution C T downstream_gene_variant BLCA-CN 11 61077397 61077397 single base substitution C T exon_variant BLCA-CN 11 61077397 61077397 single base substitution C T missense_variant A124T 370G>A BLCA-CN 11 61077397 61077397 single base substitution C T missense_variant A813T 2437G>A BLCA-CN 11 61081676 61081676 single base substitution T C 5_prime_UTR_variant BLCA-CN 11 61081676 61081676 single base substitution T C downstream_gene_variant BLCA-CN 11 61081676 61081676 single base substitution T C exon_variant BLCA-CN 11 61081676 61081676 single base substitution T C intron_variant BLCA-CN 11 61081676 61081676 single base substitution T C synonymous_variant T183T 549A>G BLCA-CN 11 61081676 61081676 single base substitution T C synonymous_variant T251T 753A>G BLCA-CN 11 61081676 61081676 single base substitution T C synonymous_variant T532T 1596A>G BLCA-CN 11 61081676 61081676 single base substitution T C synonymous_variant T96T 288A>G BLCA-CN 11 61081676 61081676 single base substitution T C upstream_gene_variant BLCA-CN 11 61106818 61106818 single base substitution G C intron_variant BLCA-US 11 61067688 61067688 single base substitution C T 3_prime_UTR_variant BLCA-US 11 61067688 61067688 single base substitution C T downstream_gene_variant BLCA-US 11 61067688 61067688 single base substitution C T exon_variant BLCA-US 11 61067688 61067688 single base substitution C T missense_variant D102N 304G>A BLCA-US 11 61067688 61067688 single base substitution C T missense_variant D1115N 3343G>A BLCA-US 11 61067688 61067688 single base substitution C T missense_variant D162N 484G>A BLCA-US 11 61067688 61067688 single base substitution C T missense_variant D426N 1276G>A BLCA-US 11 61099151 61099151 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 11 61099151 61099151 single base substitution G A exon_variant BLCA-US 11 61099151 61099151 single base substitution G A missense_variant S25L 74C>T BLCA-US 11 61099151 61099151 single base substitution G A upstream_gene_variant BLCA-US 11 61111381 61111381 single base substitution G A upstream_gene_variant BOCA-FR 11 61091511 61091511 deletion of <=200bp C - downstream_gene_variant BOCA-FR 11 61091511 61091511 deletion of <=200bp C - exon_variant BOCA-FR 11 61091511 61091511 deletion of <=200bp C - frameshift_variant K102 BOCA-FR 11 61091511 61091511 deletion of <=200bp C - frameshift_variant K287 BOCA-FR 11 61091511 61091511 deletion of <=200bp C - frameshift_variant K70 BOCA-FR 11 61091511 61091511 deletion of <=200bp C - intron_variant BOCA-FR 11 61091511 61091511 deletion of <=200bp C - upstream_gene_variant BRCA-EU 11 61063127 61063127 single base substitution T C downstream_gene_variant BRCA-EU 11 61065618 61065618 single base substitution T C downstream_gene_variant BRCA-EU 11 61068185 61068185 single base substitution G T downstream_gene_variant BRCA-EU 11 61068185 61068185 single base substitution G T intron_variant BRCA-EU 11 61069515 61069515 single base substitution A C downstream_gene_variant BRCA-EU 11 61069515 61069515 single base substitution A C exon_variant BRCA-EU 11 61069515 61069515 single base substitution A C intron_variant BRCA-EU 11 61069517 61069517 single base substitution C G downstream_gene_variant BRCA-EU 11 61069517 61069517 single base substitution C G exon_variant BRCA-EU 11 61069517 61069517 single base substitution C G intron_variant BRCA-EU 11 61071545 61071545 single base substitution G C intron_variant BRCA-EU 11 61071545 61071545 single base substitution G C upstream_gene_variant BRCA-EU 11 61072434 61072434 single base substitution A C downstream_gene_variant BRCA-EU 11 61072434 61072434 single base substitution A C intron_variant BRCA-EU 11 61072434 61072434 single base substitution A C upstream_gene_variant BRCA-EU 11 61072889 61072889 single base substitution G A downstream_gene_variant BRCA-EU 11 61072889 61072889 single base substitution G A intron_variant BRCA-EU 11 61072889 61072889 single base substitution G A upstream_gene_variant BRCA-EU 11 61073180 61073180 single base substitution C A downstream_gene_variant BRCA-EU 11 61073180 61073180 single base substitution C A intron_variant BRCA-EU 11 61073180 61073180 single base substitution C A upstream_gene_variant BRCA-EU 11 61074191 61074191 single base substitution G T downstream_gene_variant BRCA-EU 11 61074191 61074191 single base substitution G T intron_variant BRCA-EU 11 61074191 61074191 single base substitution G T upstream_gene_variant BRCA-EU 11 61075082 61075082 single base substitution A C downstream_gene_variant BRCA-EU 11 61075082 61075082 single base substitution A C intron_variant BRCA-EU 11 61075082 61075082 single base substitution A C upstream_gene_variant BRCA-EU 11 61075290 61075290 single base substitution A G downstream_gene_variant BRCA-EU 11 61075290 61075290 single base substitution A G intron_variant BRCA-EU 11 61075290 61075290 single base substitution A G upstream_gene_variant BRCA-EU 11 61076452 61076452 single base substitution C T downstream_gene_variant BRCA-EU 11 61076452 61076452 single base substitution C T splice_region_variant BRCA-EU 11 61076681 61076681 single base substitution C T downstream_gene_variant BRCA-EU 11 61076681 61076681 single base substitution C T intron_variant BRCA-EU 11 61078669 61078669 single base substitution A T 5_prime_UTR_variant BRCA-EU 11 61078669 61078669 single base substitution A T downstream_gene_variant BRCA-EU 11 61078669 61078669 single base substitution A T intron_variant BRCA-EU 11 61079119 61079119 single base substitution T A downstream_gene_variant BRCA-EU 11 61079119 61079119 single base substitution T A intron_variant BRCA-EU 11 61079119 61079119 single base substitution T A upstream_gene_variant BRCA-EU 11 61079340 61079340 single base substitution C G downstream_gene_variant BRCA-EU 11 61079340 61079340 single base substitution C G exon_variant BRCA-EU 11 61079340 61079340 single base substitution C G intron_variant BRCA-EU 11 61079340 61079340 single base substitution C G missense_variant Q198H 594G>C BRCA-EU 11 61079340 61079340 single base substitution C G missense_variant Q731H 2193G>C BRCA-EU 11 61079340 61079340 single base substitution C G upstream_gene_variant BRCA-EU 11 61079413 61079413 single base substitution G A downstream_gene_variant BRCA-EU 11 61079413 61079413 single base substitution G A intron_variant BRCA-EU 11 61079413 61079413 single base substitution G A upstream_gene_variant BRCA-EU 11 61080333 61080333 single base substitution A C downstream_gene_variant BRCA-EU 11 61080333 61080333 single base substitution A C intron_variant BRCA-EU 11 61080333 61080333 single base substitution A C upstream_gene_variant BRCA-EU 11 61081442 61081442 single base substitution C G downstream_gene_variant BRCA-EU 11 61081442 61081442 single base substitution C G intron_variant BRCA-EU 11 61081442 61081442 single base substitution C G splice_acceptor_variant BRCA-EU 11 61081442 61081442 single base substitution C G upstream_gene_variant BRCA-EU 11 61081572 61081572 single base substitution C T downstream_gene_variant BRCA-EU 11 61081572 61081572 single base substitution C T exon_variant BRCA-EU 11 61081572 61081572 single base substitution C T intron_variant BRCA-EU 11 61081572 61081572 single base substitution C T missense_variant R131H 392G>A BRCA-EU 11 61081572 61081572 single base substitution C T missense_variant R218H 653G>A BRCA-EU 11 61081572 61081572 single base substitution C T missense_variant R286H 857G>A BRCA-EU 11 61081572 61081572 single base substitution C T missense_variant R34H 101G>A BRCA-EU 11 61081572 61081572 single base substitution C T missense_variant R567H 1700G>A BRCA-EU 11 61081572 61081572 single base substitution C T upstream_gene_variant BRCA-EU 11 61084515 61084515 single base substitution C T downstream_gene_variant BRCA-EU 11 61084515 61084515 single base substitution C T intron_variant BRCA-EU 11 61084515 61084515 single base substitution C T upstream_gene_variant BRCA-EU 11 61086578 61086578 single base substitution G A downstream_gene_variant BRCA-EU 11 61086578 61086578 single base substitution G A intron_variant BRCA-EU 11 61086578 61086578 single base substitution G A upstream_gene_variant BRCA-EU 11 61087132 61087132 single base substitution G A downstream_gene_variant BRCA-EU 11 61087132 61087132 single base substitution G A intron_variant BRCA-EU 11 61087132 61087132 single base substitution G A upstream_gene_variant BRCA-EU 11 61090192 61090192 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 11 61090192 61090192 single base substitution T C downstream_gene_variant BRCA-EU 11 61090192 61090192 single base substitution T C intron_variant BRCA-EU 11 61090192 61090192 single base substitution T C upstream_gene_variant BRCA-EU 11 61090758 61090758 single base substitution T A 5_prime_UTR_variant BRCA-EU 11 61090758 61090758 single base substitution T A downstream_gene_variant BRCA-EU 11 61090758 61090758 single base substitution T A intron_variant BRCA-EU 11 61090758 61090758 single base substitution T A upstream_gene_variant BRCA-EU 11 61091083 61091083 single base substitution C T 5_prime_UTR_variant BRCA-EU 11 61091083 61091083 single base substitution C T downstream_gene_variant BRCA-EU 11 61091083 61091083 single base substitution C T intron_variant BRCA-EU 11 61091083 61091083 single base substitution C T upstream_gene_variant BRCA-EU 11 61092674 61092674 single base substitution G A downstream_gene_variant BRCA-EU 11 61092674 61092674 single base substitution G A intron_variant BRCA-EU 11 61092674 61092674 single base substitution G A upstream_gene_variant BRCA-EU 11 61093012 61093012 single base substitution G C downstream_gene_variant BRCA-EU 11 61093012 61093012 single base substitution G C intron_variant BRCA-EU 11 61093012 61093012 single base substitution G C upstream_gene_variant BRCA-EU 11 61095488 61095488 single base substitution T A downstream_gene_variant BRCA-EU 11 61095488 61095488 single base substitution T A intron_variant BRCA-EU 11 61095488 61095488 single base substitution T A upstream_gene_variant BRCA-EU 11 61095510 61095511 deletion of <=200bp GA - downstream_gene_variant BRCA-EU 11 61095510 61095511 deletion of <=200bp GA - intron_variant BRCA-EU 11 61095510 61095511 deletion of <=200bp GA - upstream_gene_variant BRCA-EU 11 61095532 61095532 single base substitution G C downstream_gene_variant BRCA-EU 11 61095532 61095532 single base substitution G C intron_variant BRCA-EU 11 61095532 61095532 single base substitution G C upstream_gene_variant BRCA-EU 11 61095537 61095537 single base substitution G A downstream_gene_variant BRCA-EU 11 61095537 61095537 single base substitution G A intron_variant BRCA-EU 11 61095537 61095537 single base substitution G A upstream_gene_variant BRCA-EU 11 61095674 61095674 single base substitution G T downstream_gene_variant BRCA-EU 11 61095674 61095674 single base substitution G T intron_variant BRCA-EU 11 61095674 61095674 single base substitution G T upstream_gene_variant BRCA-EU 11 61095793 61095793 single base substitution G C downstream_gene_variant BRCA-EU 11 61095793 61095793 single base substitution G C intron_variant BRCA-EU 11 61095793 61095793 single base substitution G C upstream_gene_variant BRCA-EU 11 61096480 61096480 single base substitution G C downstream_gene_variant BRCA-EU 11 61096480 61096480 single base substitution G C intron_variant BRCA-EU 11 61096480 61096480 single base substitution G C upstream_gene_variant BRCA-EU 11 61096631 61096631 single base substitution A G downstream_gene_variant BRCA-EU 11 61096631 61096631 single base substitution A G intron_variant BRCA-EU 11 61096631 61096631 single base substitution A G upstream_gene_variant BRCA-EU 11 61097961 61097961 single base substitution T C intron_variant BRCA-EU 11 61097961 61097961 single base substitution T C upstream_gene_variant BRCA-EU 11 61099871 61099871 single base substitution C A intron_variant BRCA-EU 11 61099871 61099871 single base substitution C A upstream_gene_variant BRCA-EU 11 61100313 61100313 single base substitution G A intron_variant BRCA-EU 11 61100313 61100313 single base substitution G A upstream_gene_variant BRCA-EU 11 61100787 61100787 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 11 61100787 61100787 single base substitution G C intron_variant BRCA-EU 11 61100787 61100787 single base substitution G C upstream_gene_variant BRCA-EU 11 61101153 61101153 single base substitution A G 5_prime_UTR_variant BRCA-EU 11 61101153 61101153 single base substitution A G intron_variant BRCA-EU 11 61101153 61101153 single base substitution A G upstream_gene_variant BRCA-EU 11 61101684 61101684 single base substitution T C intron_variant BRCA-EU 11 61101684 61101684 single base substitution T C upstream_gene_variant BRCA-EU 11 61101904 61101904 single base substitution C T intron_variant BRCA-EU 11 61101904 61101904 single base substitution C T upstream_gene_variant BRCA-EU 11 61101939 61101939 single base substitution C T intron_variant BRCA-EU 11 61101939 61101939 single base substitution C T upstream_gene_variant BRCA-EU 11 61102521 61102521 single base substitution C G intron_variant BRCA-EU 11 61102521 61102521 single base substitution C G upstream_gene_variant BRCA-EU 11 61105767 61105767 single base substitution G A intron_variant BRCA-EU 11 61105767 61105767 single base substitution G A upstream_gene_variant BRCA-EU 11 61107453 61107453 deletion of <=200bp T - intron_variant BRCA-EU 11 61109997 61109997 single base substitution T G 5_prime_UTR_variant BRCA-EU 11 61110741 61110741 single base substitution C T upstream_gene_variant BRCA-EU 11 61111418 61111418 single base substitution A T upstream_gene_variant BRCA-EU 11 61112350 61112350 single base substitution C A upstream_gene_variant BRCA-EU 11 61114349 61114349 single base substitution G A upstream_gene_variant BRCA-EU 11 61114408 61114408 single base substitution C G upstream_gene_variant BRCA-FR 11 61069515 61069515 single base substitution A C downstream_gene_variant BRCA-FR 11 61069515 61069515 single base substitution A C exon_variant BRCA-FR 11 61069515 61069515 single base substitution A C intron_variant BRCA-FR 11 61076452 61076452 single base substitution C T downstream_gene_variant BRCA-FR 11 61076452 61076452 single base substitution C T splice_region_variant BRCA-FR 11 61076681 61076681 single base substitution C T downstream_gene_variant BRCA-FR 11 61076681 61076681 single base substitution C T intron_variant BRCA-FR 11 61086439 61086439 single base substitution G T downstream_gene_variant BRCA-FR 11 61086439 61086439 single base substitution G T intron_variant BRCA-FR 11 61086439 61086439 single base substitution G T upstream_gene_variant BRCA-FR 11 61093012 61093012 single base substitution G C downstream_gene_variant BRCA-FR 11 61093012 61093012 single base substitution G C intron_variant BRCA-FR 11 61093012 61093012 single base substitution G C upstream_gene_variant BRCA-UK 11 61079340 61079340 single base substitution C G downstream_gene_variant BRCA-UK 11 61079340 61079340 single base substitution C G exon_variant BRCA-UK 11 61079340 61079340 single base substitution C G intron_variant BRCA-UK 11 61079340 61079340 single base substitution C G missense_variant Q198H 594G>C BRCA-UK 11 61079340 61079340 single base substitution C G missense_variant Q731H 2193G>C BRCA-UK 11 61079340 61079340 single base substitution C G upstream_gene_variant BRCA-UK 11 61086578 61086578 single base substitution G A downstream_gene_variant BRCA-UK 11 61086578 61086578 single base substitution G A intron_variant BRCA-UK 11 61086578 61086578 single base substitution G A upstream_gene_variant BRCA-UK 11 61089856 61089856 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 11 61089856 61089856 single base substitution G C downstream_gene_variant BRCA-UK 11 61089856 61089856 single base substitution G C exon_variant BRCA-UK 11 61089856 61089856 single base substitution G C intron_variant BRCA-UK 11 61089856 61089856 single base substitution G C missense_variant S128C 383C>G BRCA-UK 11 61089856 61089856 single base substitution G C missense_variant S160C 479C>G BRCA-UK 11 61089856 61089856 single base substitution G C missense_variant S345C 1034C>G BRCA-UK 11 61089856 61089856 single base substitution G C missense_variant S64C 191C>G BRCA-UK 11 61089856 61089856 single base substitution G C upstream_gene_variant BRCA-UK 11 61093646 61093646 single base substitution G C 5_prime_UTR_variant BRCA-UK 11 61093646 61093646 single base substitution G C downstream_gene_variant BRCA-UK 11 61093646 61093646 single base substitution G C intron_variant BRCA-UK 11 61093646 61093646 single base substitution G C upstream_gene_variant BRCA-UK 11 61106629 61106629 single base substitution C T intron_variant BRCA-UK 11 61109735 61109735 single base substitution C T intron_variant BRCA-US 11 61068352 61068352 single base substitution C T downstream_gene_variant BRCA-US 11 61068352 61068352 single base substitution C T exon_variant BRCA-US 11 61068352 61068352 single base substitution C T missense_variant D1090N 3268G>A BRCA-US 11 61068352 61068352 single base substitution C T missense_variant D137N 409G>A BRCA-US 11 61068352 61068352 single base substitution C T missense_variant D401N 1201G>A BRCA-US 11 61068352 61068352 single base substitution C T missense_variant D77N 229G>A BRCA-US 11 61068381 61068382 deletion of <=200bp CG - downstream_gene_variant BRCA-US 11 61068381 61068382 deletion of <=200bp CG - exon_variant BRCA-US 11 61068381 61068382 deletion of <=200bp CG - frameshift_variant R1080 BRCA-US 11 61068381 61068382 deletion of <=200bp CG - frameshift_variant R127 BRCA-US 11 61068381 61068382 deletion of <=200bp CG - frameshift_variant R391 BRCA-US 11 61068381 61068382 deletion of <=200bp CG - frameshift_variant R67 BRCA-US 11 61071447 61071447 single base substitution T G exon_variant BRCA-US 11 61071447 61071447 single base substitution T G missense_variant N219H 655A>C BRCA-US 11 61071447 61071447 single base substitution T G missense_variant N74H 220A>C BRCA-US 11 61071447 61071447 single base substitution T G missense_variant N908H 2722A>C BRCA-US 11 61071447 61071447 single base substitution T G upstream_gene_variant BRCA-US 11 61081077 61081077 single base substitution G A downstream_gene_variant BRCA-US 11 61081077 61081077 single base substitution G A exon_variant BRCA-US 11 61081077 61081077 single base substitution G A intron_variant BRCA-US 11 61081077 61081077 single base substitution G A missense_variant R122C 364C>T BRCA-US 11 61081077 61081077 single base substitution G A missense_variant R219C 655C>T BRCA-US 11 61081077 61081077 single base substitution G A missense_variant R655C 1963C>T BRCA-US 11 61081077 61081077 single base substitution G A upstream_gene_variant BRCA-US 11 61081549 61081549 single base substitution C T downstream_gene_variant BRCA-US 11 61081549 61081549 single base substitution C T exon_variant BRCA-US 11 61081549 61081549 single base substitution C T intron_variant BRCA-US 11 61081549 61081549 single base substitution C T missense_variant E139K 415G>A BRCA-US 11 61081549 61081549 single base substitution C T missense_variant E226K 676G>A BRCA-US 11 61081549 61081549 single base substitution C T missense_variant E294K 880G>A BRCA-US 11 61081549 61081549 single base substitution C T missense_variant E42K 124G>A BRCA-US 11 61081549 61081549 single base substitution C T missense_variant E575K 1723G>A BRCA-US 11 61081549 61081549 single base substitution C T upstream_gene_variant BRCA-US 11 61093120 61093120 single base substitution C T downstream_gene_variant BRCA-US 11 61093120 61093120 single base substitution C T exon_variant BRCA-US 11 61093120 61093120 single base substitution C T intron_variant BRCA-US 11 61093120 61093120 single base substitution C T missense_variant G242D 725G>A BRCA-US 11 61093120 61093120 single base substitution C T missense_variant G25D 74G>A BRCA-US 11 61093120 61093120 single base substitution C T missense_variant G57D 170G>A BRCA-US 11 61093120 61093120 single base substitution C T upstream_gene_variant BRCA-US 11 61093159 61093159 insertion of <=200bp - C downstream_gene_variant BRCA-US 11 61093159 61093159 insertion of <=200bp - C exon_variant BRCA-US 11 61093159 61093159 insertion of <=200bp - C frameshift_variant A12A? BRCA-US 11 61093159 61093159 insertion of <=200bp - C frameshift_variant A229A? BRCA-US 11 61093159 61093159 insertion of <=200bp - C frameshift_variant A44A? BRCA-US 11 61093159 61093159 insertion of <=200bp - C intron_variant BRCA-US 11 61093159 61093159 insertion of <=200bp - C upstream_gene_variant BRCA-US 11 61093160 61093160 deletion of <=200bp C - downstream_gene_variant BRCA-US 11 61093160 61093160 deletion of <=200bp C - exon_variant BRCA-US 11 61093160 61093160 deletion of <=200bp C - frameshift_variant A12 BRCA-US 11 61093160 61093160 deletion of <=200bp C - frameshift_variant A229 BRCA-US 11 61093160 61093160 deletion of <=200bp C - frameshift_variant A44 BRCA-US 11 61093160 61093160 deletion of <=200bp C - intron_variant BRCA-US 11 61093160 61093160 deletion of <=200bp C - upstream_gene_variant BRCA-US 11 61094351 61094351 single base substitution C T 5_prime_UTR_variant BRCA-US 11 61094351 61094351 single base substitution C T downstream_gene_variant BRCA-US 11 61094351 61094351 single base substitution C T exon_variant BRCA-US 11 61094351 61094351 single base substitution C T intron_variant BRCA-US 11 61094351 61094351 single base substitution C T synonymous_variant R132R 396G>A BRCA-US 11 61094351 61094351 single base substitution C T synonymous_variant R188R 564G>A BRCA-US 11 61094351 61094351 single base substitution C T upstream_gene_variant BRCA-US 11 61099077 61099077 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 11 61099077 61099077 single base substitution G A exon_variant BRCA-US 11 61099077 61099077 single base substitution G A missense_variant R50W 148C>T BRCA-US 11 61099077 61099077 single base substitution G A upstream_gene_variant BRCA-US 11 61105416 61105416 single base substitution T A intron_variant BRCA-US 11 61105416 61105416 single base substitution T A upstream_gene_variant BRCA-US 11 61106623 61106623 single base substitution C T intron_variant BRCA-US 11 61111640 61111640 single base substitution G C upstream_gene_variant BRCA-US 11 61111711 61111711 single base substitution C T upstream_gene_variant BRCA-US 11 61112999 61112999 single base substitution G C upstream_gene_variant BRCA-US 11 61113373 61113373 single base substitution G C upstream_gene_variant BTCA-JP 11 61070207 61070207 single base substitution C T 5_prime_UTR_variant BTCA-JP 11 61070207 61070207 single base substitution C T exon_variant BTCA-JP 11 61070207 61070207 single base substitution C T missense_variant E153K 457G>A BTCA-JP 11 61070207 61070207 single base substitution C T missense_variant E298K 892G>A BTCA-JP 11 61070207 61070207 single base substitution C T missense_variant E34K 100G>A BTCA-JP 11 61070207 61070207 single base substitution C T missense_variant E987K 2959G>A BTCA-JP 11 61070207 61070207 single base substitution C T upstream_gene_variant BTCA-JP 11 61093160 61093160 insertion of <=200bp - C downstream_gene_variant BTCA-JP 11 61093160 61093160 insertion of <=200bp - C exon_variant BTCA-JP 11 61093160 61093160 insertion of <=200bp - C frameshift_variant A12G? BTCA-JP 11 61093160 61093160 insertion of <=200bp - C frameshift_variant A229G? BTCA-JP 11 61093160 61093160 insertion of <=200bp - C frameshift_variant A44G? BTCA-JP 11 61093160 61093160 insertion of <=200bp - C intron_variant BTCA-JP 11 61093160 61093160 insertion of <=200bp - C upstream_gene_variant BTCA-JP 11 61099090 61099090 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 11 61099090 61099090 single base substitution G A exon_variant BTCA-JP 11 61099090 61099090 single base substitution G A synonymous_variant T45T 135C>T BTCA-JP 11 61099090 61099090 single base substitution G A upstream_gene_variant BTCA-JP 11 61108952 61108952 single base substitution C T intron_variant BTCA-JP 11 61111382 61111382 single base substitution G A upstream_gene_variant BTCA-JP 11 61114010 61114028 deletion of <=200bp TCACTGCTGTGCTGAGGTG - upstream_gene_variant CESC-US 11 61070628 61070628 single base substitution C T 5_prime_UTR_variant CESC-US 11 61070628 61070628 single base substitution C T splice_acceptor_variant CESC-US 11 61070628 61070628 single base substitution C T upstream_gene_variant CESC-US 11 61084025 61084025 single base substitution G A 5_prime_UTR_variant CESC-US 11 61084025 61084025 single base substitution G A downstream_gene_variant CESC-US 11 61084025 61084025 single base substitution G A exon_variant CESC-US 11 61084025 61084025 single base substitution G A intron_variant CESC-US 11 61084025 61084025 single base substitution G A missense_variant R133W 397C>T CESC-US 11 61084025 61084025 single base substitution G A missense_variant R197W 589C>T CESC-US 11 61084025 61084025 single base substitution G A missense_variant R414W 1240C>T CESC-US 11 61084025 61084025 single base substitution G A missense_variant R65W 193C>T CESC-US 11 61084025 61084025 single base substitution G A upstream_gene_variant CESC-US 11 61096837 61096837 single base substitution G A downstream_gene_variant CESC-US 11 61096837 61096837 single base substitution G A exon_variant CESC-US 11 61096837 61096837 single base substitution G A intron_variant CESC-US 11 61096837 61096837 single base substitution G A splice_region_variant CESC-US 11 61096837 61096837 single base substitution G A stop_gained Q127* 379C>T CESC-US 11 61096837 61096837 single base substitution G A stop_gained Q183* 547C>T CESC-US 11 61096837 61096837 single base substitution G A upstream_gene_variant CLLE-ES 11 61063395 61063395 single base substitution C T downstream_gene_variant CLLE-ES 11 61078478 61078478 single base substitution C A 5_prime_UTR_variant CLLE-ES 11 61078478 61078478 single base substitution C A downstream_gene_variant CLLE-ES 11 61078478 61078478 single base substitution C A intron_variant CLLE-ES 11 61112523 61112523 single base substitution G A upstream_gene_variant COAD-US 11 61070070 61070070 single base substitution C T exon_variant COAD-US 11 61070070 61070070 single base substitution C T synonymous_variant T1032T 3096G>A COAD-US 11 61070070 61070070 single base substitution C T synonymous_variant T198T 594G>A COAD-US 11 61070070 61070070 single base substitution C T synonymous_variant T19T 57G>A COAD-US 11 61070070 61070070 single base substitution C T synonymous_variant T343T 1029G>A COAD-US 11 61070070 61070070 single base substitution C T synonymous_variant T79T 237G>A COAD-US 11 61070070 61070070 single base substitution C T upstream_gene_variant COAD-US 11 61081949 61081949 single base substitution C T 5_prime_UTR_variant COAD-US 11 61081949 61081949 single base substitution C T downstream_gene_variant COAD-US 11 61081949 61081949 single base substitution C T exon_variant COAD-US 11 61081949 61081949 single base substitution C T intron_variant COAD-US 11 61081949 61081949 single base substitution C T missense_variant A125T 373G>A COAD-US 11 61081949 61081949 single base substitution C T missense_variant A193T 577G>A COAD-US 11 61081949 61081949 single base substitution C T missense_variant A38T 112G>A COAD-US 11 61081949 61081949 single base substitution C T missense_variant A474T 1420G>A COAD-US 11 61081949 61081949 single base substitution C T upstream_gene_variant COAD-US 11 61093159 61093159 insertion of <=200bp - C downstream_gene_variant COAD-US 11 61093159 61093159 insertion of <=200bp - C exon_variant COAD-US 11 61093159 61093159 insertion of <=200bp - C frameshift_variant A12A? COAD-US 11 61093159 61093159 insertion of <=200bp - C frameshift_variant A229A? COAD-US 11 61093159 61093159 insertion of <=200bp - C frameshift_variant A44A? COAD-US 11 61093159 61093159 insertion of <=200bp - C intron_variant COAD-US 11 61093159 61093159 insertion of <=200bp - C upstream_gene_variant COAD-US 11 61093160 61093160 deletion of <=200bp C - downstream_gene_variant COAD-US 11 61093160 61093160 deletion of <=200bp C - exon_variant COAD-US 11 61093160 61093160 deletion of <=200bp C - frameshift_variant A12 COAD-US 11 61093160 61093160 deletion of <=200bp C - frameshift_variant A229 COAD-US 11 61093160 61093160 deletion of <=200bp C - frameshift_variant A44 COAD-US 11 61093160 61093160 deletion of <=200bp C - intron_variant COAD-US 11 61093160 61093160 deletion of <=200bp C - upstream_gene_variant COAD-US 11 61094347 61094347 single base substitution C T 5_prime_UTR_variant COAD-US 11 61094347 61094347 single base substitution C T downstream_gene_variant COAD-US 11 61094347 61094347 single base substitution C T exon_variant COAD-US 11 61094347 61094347 single base substitution C T intron_variant COAD-US 11 61094347 61094347 single base substitution C T missense_variant V134I 400G>A COAD-US 11 61094347 61094347 single base substitution C T missense_variant V190I 568G>A COAD-US 11 61094347 61094347 single base substitution C T upstream_gene_variant COAD-US 11 61094368 61094368 deletion of <=200bp G - 5_prime_UTR_variant COAD-US 11 61094368 61094368 deletion of <=200bp G - downstream_gene_variant COAD-US 11 61094368 61094368 deletion of <=200bp G - exon_variant COAD-US 11 61094368 61094368 deletion of <=200bp G - intron_variant COAD-US 11 61094368 61094368 deletion of <=200bp G - splice_region_variant COAD-US 11 61094368 61094368 deletion of <=200bp G - upstream_gene_variant COAD-US 11 61099102 61099102 single base substitution G A 5_prime_UTR_variant COAD-US 11 61099102 61099102 single base substitution G A exon_variant COAD-US 11 61099102 61099102 single base substitution G A synonymous_variant I41I 123C>T COAD-US 11 61099102 61099102 single base substitution G A upstream_gene_variant COAD-US 11 61105551 61105551 single base substitution C T intron_variant COAD-US 11 61105551 61105551 single base substitution C T upstream_gene_variant COAD-US 11 61106879 61106879 single base substitution G A intron_variant COAD-US 11 61111618 61111618 single base substitution G A upstream_gene_variant COAD-US 11 61111695 61111695 single base substitution G A upstream_gene_variant COAD-US 11 61111712 61111712 single base substitution G A upstream_gene_variant COCA-CN 11 61070687 61070687 single base substitution C A 5_prime_UTR_variant COCA-CN 11 61070687 61070687 single base substitution C A intron_variant COCA-CN 11 61070687 61070687 single base substitution C A upstream_gene_variant COCA-CN 11 61090688 61090688 single base substitution C T 5_prime_UTR_variant COCA-CN 11 61090688 61090688 single base substitution C T downstream_gene_variant COCA-CN 11 61090688 61090688 single base substitution C T intron_variant COCA-CN 11 61090688 61090688 single base substitution C T upstream_gene_variant COCA-CN 11 61090702 61090702 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 11 61090702 61090702 single base substitution C A downstream_gene_variant COCA-CN 11 61090702 61090702 single base substitution C A intron_variant COCA-CN 11 61090702 61090702 single base substitution C A upstream_gene_variant COCA-CN 11 61094241 61094241 single base substitution C T downstream_gene_variant COCA-CN 11 61094241 61094241 single base substitution C T intron_variant COCA-CN 11 61094241 61094241 single base substitution C T upstream_gene_variant COCA-CN 11 61096912 61096912 single base substitution G A downstream_gene_variant COCA-CN 11 61096912 61096912 single base substitution G A exon_variant COCA-CN 11 61096912 61096912 single base substitution G A intron_variant COCA-CN 11 61096912 61096912 single base substitution G A missense_variant R102C 304C>T COCA-CN 11 61096912 61096912 single base substitution G A missense_variant R158C 472C>T COCA-CN 11 61096912 61096912 single base substitution G A upstream_gene_variant COCA-CN 11 61097405 61097405 single base substitution C A downstream_gene_variant COCA-CN 11 61097405 61097405 single base substitution C A intron_variant COCA-CN 11 61097405 61097405 single base substitution C A upstream_gene_variant COCA-CN 11 61106778 61106778 single base substitution C T intron_variant COCA-CN 11 61109928 61109928 single base substitution C T 5_prime_UTR_variant COCA-CN 11 61111738 61111738 single base substitution G A upstream_gene_variant COCA-CN 11 61113448 61113449 multiple base substitution (>=2bp and <=200bp) GA AG upstream_gene_variant COCA-CN 11 61113722 61113722 single base substitution C T upstream_gene_variant ESAD-UK 11 61061933 61061933 single base substitution G A downstream_gene_variant ESAD-UK 11 61061936 61061936 single base substitution A C downstream_gene_variant ESAD-UK 11 61064456 61064456 single base substitution T C downstream_gene_variant ESAD-UK 11 61064836 61064836 single base substitution C T downstream_gene_variant ESAD-UK 11 61067390 61067390 single base substitution G C 3_prime_UTR_variant ESAD-UK 11 61067390 61067390 single base substitution G C downstream_gene_variant ESAD-UK 11 61067390 61067390 single base substitution G C exon_variant ESAD-UK 11 61070798 61070798 single base substitution G A 5_prime_UTR_variant ESAD-UK 11 61070798 61070798 single base substitution G A intron_variant ESAD-UK 11 61070798 61070798 single base substitution G A upstream_gene_variant ESAD-UK 11 61070891 61070891 single base substitution T C intron_variant ESAD-UK 11 61070891 61070891 single base substitution T C upstream_gene_variant ESAD-UK 11 61071791 61071791 single base substitution G A intron_variant ESAD-UK 11 61071791 61071791 single base substitution G A upstream_gene_variant ESAD-UK 11 61072015 61072015 single base substitution A G intron_variant ESAD-UK 11 61072015 61072015 single base substitution A G upstream_gene_variant ESAD-UK 11 61074104 61074104 single base substitution A C downstream_gene_variant ESAD-UK 11 61074104 61074104 single base substitution A C intron_variant ESAD-UK 11 61074104 61074104 single base substitution A C upstream_gene_variant ESAD-UK 11 61076583 61076583 single base substitution G C downstream_gene_variant ESAD-UK 11 61076583 61076583 single base substitution G C intron_variant ESAD-UK 11 61077703 61077703 single base substitution G C downstream_gene_variant ESAD-UK 11 61077703 61077703 single base substitution G C intron_variant ESAD-UK 11 61078829 61078840 deletion of <=200bp AACATAACATAA - downstream_gene_variant ESAD-UK 11 61078829 61078840 deletion of <=200bp AACATAACATAA - intron_variant ESAD-UK 11 61078829 61078840 deletion of <=200bp AACATAACATAA - upstream_gene_variant ESAD-UK 11 61079904 61079904 single base substitution A G downstream_gene_variant ESAD-UK 11 61079904 61079904 single base substitution A G intron_variant ESAD-UK 11 61079904 61079904 single base substitution A G upstream_gene_variant ESAD-UK 11 61082472 61082474 deletion of <=200bp TTG - 5_prime_UTR_variant ESAD-UK 11 61082472 61082474 deletion of <=200bp TTG - downstream_gene_variant ESAD-UK 11 61082472 61082474 deletion of <=200bp TTG - exon_variant ESAD-UK 11 61082472 61082474 deletion of <=200bp TTG - intron_variant ESAD-UK 11 61082472 61082474 deletion of <=200bp TTG - upstream_gene_variant ESAD-UK 11 61084117 61084118 deletion of <=200bp GG - downstream_gene_variant ESAD-UK 11 61084117 61084118 deletion of <=200bp GG - intron_variant ESAD-UK 11 61084117 61084118 deletion of <=200bp GG - upstream_gene_variant ESAD-UK 11 61085000 61085000 single base substitution A G downstream_gene_variant ESAD-UK 11 61085000 61085000 single base substitution A G intron_variant ESAD-UK 11 61085000 61085000 single base substitution A G upstream_gene_variant ESAD-UK 11 61088666 61088666 insertion of <=200bp - T downstream_gene_variant ESAD-UK 11 61088666 61088666 insertion of <=200bp - T intron_variant ESAD-UK 11 61088666 61088666 insertion of <=200bp - T upstream_gene_variant ESAD-UK 11 61092197 61092197 single base substitution C T downstream_gene_variant ESAD-UK 11 61092197 61092197 single base substitution C T intron_variant ESAD-UK 11 61092197 61092197 single base substitution C T upstream_gene_variant ESAD-UK 11 61093160 61093160 insertion of <=200bp - C downstream_gene_variant ESAD-UK 11 61093160 61093160 insertion of <=200bp - C exon_variant ESAD-UK 11 61093160 61093160 insertion of <=200bp - C frameshift_variant A12G? ESAD-UK 11 61093160 61093160 insertion of <=200bp - C frameshift_variant A229G? ESAD-UK 11 61093160 61093160 insertion of <=200bp - C frameshift_variant A44G? ESAD-UK 11 61093160 61093160 insertion of <=200bp - C intron_variant ESAD-UK 11 61093160 61093160 insertion of <=200bp - C upstream_gene_variant ESAD-UK 11 61093791 61093791 single base substitution G T downstream_gene_variant ESAD-UK 11 61093791 61093791 single base substitution G T intron_variant ESAD-UK 11 61093791 61093791 single base substitution G T upstream_gene_variant ESAD-UK 11 61097135 61097135 single base substitution A G downstream_gene_variant ESAD-UK 11 61097135 61097135 single base substitution A G intron_variant ESAD-UK 11 61097135 61097135 single base substitution A G upstream_gene_variant ESAD-UK 11 61097137 61097137 single base substitution A T downstream_gene_variant ESAD-UK 11 61097137 61097137 single base substitution A T intron_variant ESAD-UK 11 61097137 61097137 single base substitution A T upstream_gene_variant ESAD-UK 11 61097539 61097539 single base substitution C T exon_variant ESAD-UK 11 61097539 61097539 single base substitution C T intron_variant ESAD-UK 11 61097539 61097539 single base substitution C T missense_variant S17N 50G>A ESAD-UK 11 61097539 61097539 single base substitution C T missense_variant S73N 218G>A ESAD-UK 11 61097539 61097539 single base substitution C T upstream_gene_variant ESAD-UK 11 61098126 61098126 insertion of <=200bp - T intron_variant ESAD-UK 11 61098126 61098126 insertion of <=200bp - T upstream_gene_variant ESAD-UK 11 61098178 61098178 single base substitution G A intron_variant ESAD-UK 11 61098178 61098178 single base substitution G A upstream_gene_variant ESAD-UK 11 61103289 61103289 single base substitution G A intron_variant ESAD-UK 11 61103289 61103289 single base substitution G A upstream_gene_variant ESAD-UK 11 61107231 61107231 single base substitution G C intron_variant ESAD-UK 11 61108677 61108677 deletion of <=200bp T - intron_variant ESAD-UK 11 61110458 61110458 single base substitution G C upstream_gene_variant ESAD-UK 11 61110653 61110653 single base substitution G C upstream_gene_variant ESAD-UK 11 61111465 61111465 single base substitution T A upstream_gene_variant ESAD-UK 11 61113691 61113691 single base substitution G A upstream_gene_variant ESAD-UK 11 61114852 61114852 insertion of <=200bp - A upstream_gene_variant ESCA-CN 11 61069806 61069806 single base substitution G A downstream_gene_variant ESCA-CN 11 61069806 61069806 single base substitution G A exon_variant ESCA-CN 11 61069806 61069806 single base substitution G A synonymous_variant S1046S 3138C>T ESCA-CN 11 61069806 61069806 single base substitution G A synonymous_variant S33S 99C>T ESCA-CN 11 61069806 61069806 single base substitution G A synonymous_variant S357S 1071C>T ESCA-CN 11 61069806 61069806 single base substitution G A synonymous_variant S93S 279C>T ESCA-CN 11 61096885 61096885 single base substitution C T downstream_gene_variant ESCA-CN 11 61096885 61096885 single base substitution C T exon_variant ESCA-CN 11 61096885 61096885 single base substitution C T intron_variant ESCA-CN 11 61096885 61096885 single base substitution C T missense_variant V111I 331G>A ESCA-CN 11 61096885 61096885 single base substitution C T missense_variant V167I 499G>A ESCA-CN 11 61096885 61096885 single base substitution C T upstream_gene_variant ESCA-CN 11 61113923 61113923 single base substitution C T upstream_gene_variant GBM-US 11 61079499 61079499 single base substitution C G downstream_gene_variant GBM-US 11 61079499 61079499 single base substitution C G exon_variant GBM-US 11 61079499 61079499 single base substitution C G intron_variant GBM-US 11 61079499 61079499 single base substitution C G missense_variant K176N 528G>C GBM-US 11 61079499 61079499 single base substitution C G missense_variant K709N 2127G>C GBM-US 11 61079499 61079499 single base substitution C G upstream_gene_variant KIRC-US 11 61070127 61070127 single base substitution T C 5_prime_UTR_variant KIRC-US 11 61070127 61070127 single base substitution T C exon_variant KIRC-US 11 61070127 61070127 single base substitution T C synonymous_variant V1013V 3039A>G KIRC-US 11 61070127 61070127 single base substitution T C synonymous_variant V179V 537A>G KIRC-US 11 61070127 61070127 single base substitution T C synonymous_variant V324V 972A>G KIRC-US 11 61070127 61070127 single base substitution T C synonymous_variant V60V 180A>G KIRC-US 11 61070127 61070127 single base substitution T C upstream_gene_variant KIRC-US 11 61081149 61081149 single base substitution A C downstream_gene_variant KIRC-US 11 61081149 61081149 single base substitution A C exon_variant KIRC-US 11 61081149 61081149 single base substitution A C intron_variant KIRC-US 11 61081149 61081149 single base substitution A C missense_variant L195V 583T>G KIRC-US 11 61081149 61081149 single base substitution A C missense_variant L631V 1891T>G KIRC-US 11 61081149 61081149 single base substitution A C missense_variant L98V 292T>G KIRC-US 11 61081149 61081149 single base substitution A C upstream_gene_variant KIRC-US 11 61081631 61081631 single base substitution T A downstream_gene_variant KIRC-US 11 61081631 61081631 single base substitution T A exon_variant KIRC-US 11 61081631 61081631 single base substitution T A intron_variant KIRC-US 11 61081631 61081631 single base substitution T A synonymous_variant G111G 333A>T KIRC-US 11 61081631 61081631 single base substitution T A synonymous_variant G14G 42A>T KIRC-US 11 61081631 61081631 single base substitution T A synonymous_variant G198G 594A>T KIRC-US 11 61081631 61081631 single base substitution T A synonymous_variant G266G 798A>T KIRC-US 11 61081631 61081631 single base substitution T A synonymous_variant G547G 1641A>T KIRC-US 11 61081631 61081631 single base substitution T A upstream_gene_variant KIRC-US 11 61081632 61081632 single base substitution C T downstream_gene_variant KIRC-US 11 61081632 61081632 single base substitution C T exon_variant KIRC-US 11 61081632 61081632 single base substitution C T intron_variant KIRC-US 11 61081632 61081632 single base substitution C T missense_variant G111E 332G>A KIRC-US 11 61081632 61081632 single base substitution C T missense_variant G14E 41G>A KIRC-US 11 61081632 61081632 single base substitution C T missense_variant G198E 593G>A KIRC-US 11 61081632 61081632 single base substitution C T missense_variant G266E 797G>A KIRC-US 11 61081632 61081632 single base substitution C T missense_variant G547E 1640G>A KIRC-US 11 61081632 61081632 single base substitution C T upstream_gene_variant KIRC-US 11 61097462 61097462 single base substitution C T exon_variant KIRC-US 11 61097462 61097462 single base substitution C T intron_variant KIRC-US 11 61097462 61097462 single base substitution C T missense_variant D43N 127G>A KIRC-US 11 61097462 61097462 single base substitution C T missense_variant D99N 295G>A KIRC-US 11 61097462 61097462 single base substitution C T upstream_gene_variant KIRC-US 11 61105442 61105442 deletion of <=200bp T - intron_variant KIRC-US 11 61105442 61105442 deletion of <=200bp T - upstream_gene_variant KIRC-US 11 61113379 61113379 single base substitution A G upstream_gene_variant KIRP-US 11 61081866 61081866 single base substitution G A 5_prime_UTR_variant KIRP-US 11 61081866 61081866 single base substitution G A downstream_gene_variant KIRP-US 11 61081866 61081866 single base substitution G A exon_variant KIRP-US 11 61081866 61081866 single base substitution G A intron_variant KIRP-US 11 61081866 61081866 single base substitution G A synonymous_variant A152A 456C>T KIRP-US 11 61081866 61081866 single base substitution G A synonymous_variant A220A 660C>T KIRP-US 11 61081866 61081866 single base substitution G A synonymous_variant A501A 1503C>T KIRP-US 11 61081866 61081866 single base substitution G A synonymous_variant A65A 195C>T KIRP-US 11 61081866 61081866 single base substitution G A upstream_gene_variant KIRP-US 11 61111339 61111339 single base substitution A G upstream_gene_variant LAML-KR 11 61085172 61085172 single base substitution A G downstream_gene_variant LAML-KR 11 61085172 61085172 single base substitution A G intron_variant LAML-KR 11 61085172 61085172 single base substitution A G upstream_gene_variant LAML-KR 11 61088893 61088893 single base substitution C T downstream_gene_variant LAML-KR 11 61088893 61088893 single base substitution C T exon_variant LAML-KR 11 61088893 61088893 single base substitution C T intron_variant LAML-KR 11 61088893 61088893 single base substitution C T upstream_gene_variant LAML-KR 11 61099311 61099311 single base substitution C A 5_prime_UTR_variant LAML-KR 11 61099311 61099311 single base substitution C A intron_variant LAML-KR 11 61099311 61099311 single base substitution C A upstream_gene_variant LAML-KR 11 61112802 61112802 single base substitution C T upstream_gene_variant LICA-CN 11 61111371 61111371 single base substitution C T upstream_gene_variant LICA-FR 11 61075730 61075730 single base substitution C A downstream_gene_variant LICA-FR 11 61075730 61075730 single base substitution C A intron_variant LICA-FR 11 61075730 61075730 single base substitution C A upstream_gene_variant LICA-FR 11 61082354 61082354 single base substitution T A 5_prime_UTR_variant LICA-FR 11 61082354 61082354 single base substitution T A downstream_gene_variant LICA-FR 11 61082354 61082354 single base substitution T A exon_variant LICA-FR 11 61082354 61082354 single base substitution T A intron_variant LICA-FR 11 61082354 61082354 single base substitution T A upstream_gene_variant LICA-FR 11 61091474 61091474 single base substitution G T downstream_gene_variant LICA-FR 11 61091474 61091474 single base substitution G T exon_variant LICA-FR 11 61091474 61091474 single base substitution G T intron_variant LICA-FR 11 61091474 61091474 single base substitution G T missense_variant L115I 343C>A LICA-FR 11 61091474 61091474 single base substitution G T missense_variant L300I 898C>A LICA-FR 11 61091474 61091474 single base substitution G T missense_variant L83I 247C>A LICA-FR 11 61091474 61091474 single base substitution G T upstream_gene_variant LICA-FR 11 61110308 61110308 single base substitution G T upstream_gene_variant LICA-FR 11 61110309 61110309 single base substitution C T upstream_gene_variant LIHC-US 11 61091480 61091480 single base substitution T A downstream_gene_variant LIHC-US 11 61091480 61091480 single base substitution T A exon_variant LIHC-US 11 61091480 61091480 single base substitution T A intron_variant LIHC-US 11 61091480 61091480 single base substitution T A stop_gained K113* 337A>T LIHC-US 11 61091480 61091480 single base substitution T A stop_gained K298* 892A>T LIHC-US 11 61091480 61091480 single base substitution T A stop_gained K81* 241A>T LIHC-US 11 61091480 61091480 single base substitution T A upstream_gene_variant LIHC-US 11 61097525 61097525 single base substitution A G exon_variant LIHC-US 11 61097525 61097525 single base substitution A G intron_variant LIHC-US 11 61097525 61097525 single base substitution A G missense_variant F22L 64T>C LIHC-US 11 61097525 61097525 single base substitution A G missense_variant F78L 232T>C LIHC-US 11 61097525 61097525 single base substitution A G upstream_gene_variant LIHC-US 11 61113369 61113369 single base substitution G T upstream_gene_variant LINC-JP 11 61062528 61062528 insertion of <=200bp - GGGT downstream_gene_variant LINC-JP 11 61076044 61076044 single base substitution T C downstream_gene_variant LINC-JP 11 61076044 61076044 single base substitution T C intron_variant LINC-JP 11 61087139 61087139 single base substitution T C downstream_gene_variant LINC-JP 11 61087139 61087139 single base substitution T C intron_variant LINC-JP 11 61087139 61087139 single base substitution T C upstream_gene_variant LINC-JP 11 61102176 61102176 insertion of <=200bp - C intron_variant LINC-JP 11 61102176 61102176 insertion of <=200bp - C upstream_gene_variant LINC-JP 11 61105260 61105260 single base substitution A G intron_variant LINC-JP 11 61105260 61105260 single base substitution A G upstream_gene_variant LINC-JP 11 61109342 61109342 single base substitution C T intron_variant LINC-JP 11 61110838 61110838 single base substitution G A upstream_gene_variant LINC-JP 11 61111349 61111349 single base substitution C T upstream_gene_variant LINC-JP 11 61113436 61113436 single base substitution C G upstream_gene_variant LINC-JP 11 61113829 61113829 single base substitution G T upstream_gene_variant LINC-JP 11 61114677 61114677 single base substitution A G upstream_gene_variant LIRI-JP 11 61064703 61064703 single base substitution C T downstream_gene_variant LIRI-JP 11 61065078 61065078 single base substitution A T downstream_gene_variant LIRI-JP 11 61065251 61065251 single base substitution A G downstream_gene_variant LIRI-JP 11 61065700 61065729 deletion of <=200bp ACAGGCTTCCAAATTCAAGACAAGTCATTG - downstream_gene_variant LIRI-JP 11 61066131 61066131 single base substitution G T downstream_gene_variant LIRI-JP 11 61066209 61066209 single base substitution C G downstream_gene_variant LIRI-JP 11 61068177 61068177 single base substitution C A downstream_gene_variant LIRI-JP 11 61068177 61068177 single base substitution C A intron_variant LIRI-JP 11 61068235 61068235 single base substitution C A downstream_gene_variant LIRI-JP 11 61068235 61068235 single base substitution C A intron_variant LIRI-JP 11 61068428 61068428 single base substitution C T downstream_gene_variant LIRI-JP 11 61068428 61068428 single base substitution C T exon_variant LIRI-JP 11 61068428 61068428 single base substitution C T intron_variant LIRI-JP 11 61068541 61068541 single base substitution T C downstream_gene_variant LIRI-JP 11 61068541 61068541 single base substitution T C exon_variant LIRI-JP 11 61068541 61068541 single base substitution T C intron_variant LIRI-JP 11 61069021 61069021 single base substitution C T downstream_gene_variant LIRI-JP 11 61069021 61069021 single base substitution C T exon_variant LIRI-JP 11 61069021 61069021 single base substitution C T intron_variant LIRI-JP 11 61069482 61069489 deletion of <=200bp TATAAATG - downstream_gene_variant LIRI-JP 11 61069482 61069489 deletion of <=200bp TATAAATG - exon_variant LIRI-JP 11 61069482 61069489 deletion of <=200bp TATAAATG - intron_variant LIRI-JP 11 61070931 61070931 single base substitution C T intron_variant LIRI-JP 11 61070931 61070931 single base substitution C T upstream_gene_variant LIRI-JP 11 61071764 61071764 single base substitution G A intron_variant LIRI-JP 11 61071764 61071764 single base substitution G A upstream_gene_variant LIRI-JP 11 61071802 61071802 single base substitution C T intron_variant LIRI-JP 11 61071802 61071802 single base substitution C T upstream_gene_variant LIRI-JP 11 61073991 61073991 single base substitution T C downstream_gene_variant LIRI-JP 11 61073991 61073991 single base substitution T C intron_variant LIRI-JP 11 61073991 61073991 single base substitution T C upstream_gene_variant LIRI-JP 11 61078684 61078684 single base substitution A G 5_prime_UTR_variant LIRI-JP 11 61078684 61078684 single base substitution A G downstream_gene_variant LIRI-JP 11 61078684 61078684 single base substitution A G intron_variant LIRI-JP 11 61080674 61080674 insertion of <=200bp - A downstream_gene_variant LIRI-JP 11 61080674 61080674 insertion of <=200bp - A intron_variant LIRI-JP 11 61080674 61080674 insertion of <=200bp - A upstream_gene_variant LIRI-JP 11 61082644 61082644 single base substitution T G 5_prime_UTR_variant LIRI-JP 11 61082644 61082644 single base substitution T G downstream_gene_variant LIRI-JP 11 61082644 61082644 single base substitution T G exon_variant LIRI-JP 11 61082644 61082644 single base substitution T G intron_variant LIRI-JP 11 61082644 61082644 single base substitution T G upstream_gene_variant LIRI-JP 11 61085277 61085277 single base substitution T C downstream_gene_variant LIRI-JP 11 61085277 61085277 single base substitution T C intron_variant LIRI-JP 11 61085277 61085277 single base substitution T C upstream_gene_variant LIRI-JP 11 61088503 61088503 single base substitution T C downstream_gene_variant LIRI-JP 11 61088503 61088503 single base substitution T C intron_variant LIRI-JP 11 61088503 61088503 single base substitution T C upstream_gene_variant LIRI-JP 11 61092090 61092090 single base substitution A G downstream_gene_variant LIRI-JP 11 61092090 61092090 single base substitution A G intron_variant LIRI-JP 11 61092090 61092090 single base substitution A G upstream_gene_variant LIRI-JP 11 61094286 61094286 single base substitution T A 5_prime_UTR_variant LIRI-JP 11 61094286 61094286 single base substitution T A downstream_gene_variant LIRI-JP 11 61094286 61094286 single base substitution T A exon_variant LIRI-JP 11 61094286 61094286 single base substitution T A intron_variant LIRI-JP 11 61094286 61094286 single base substitution T A missense_variant E154V 461A>T LIRI-JP 11 61094286 61094286 single base substitution T A missense_variant E210V 629A>T LIRI-JP 11 61094286 61094286 single base substitution T A upstream_gene_variant LIRI-JP 11 61094352 61094352 single base substitution C T 5_prime_UTR_variant LIRI-JP 11 61094352 61094352 single base substitution C T downstream_gene_variant LIRI-JP 11 61094352 61094352 single base substitution C T exon_variant LIRI-JP 11 61094352 61094352 single base substitution C T intron_variant LIRI-JP 11 61094352 61094352 single base substitution C T missense_variant R132Q 395G>A LIRI-JP 11 61094352 61094352 single base substitution C T missense_variant R188Q 563G>A LIRI-JP 11 61094352 61094352 single base substitution C T upstream_gene_variant LIRI-JP 11 61094632 61094632 single base substitution T A downstream_gene_variant LIRI-JP 11 61094632 61094632 single base substitution T A intron_variant LIRI-JP 11 61094632 61094632 single base substitution T A upstream_gene_variant LIRI-JP 11 61096334 61096334 single base substitution T C downstream_gene_variant LIRI-JP 11 61096334 61096334 single base substitution T C intron_variant LIRI-JP 11 61096334 61096334 single base substitution T C upstream_gene_variant LIRI-JP 11 61096358 61096358 single base substitution T G downstream_gene_variant LIRI-JP 11 61096358 61096358 single base substitution T G intron_variant LIRI-JP 11 61096358 61096358 single base substitution T G upstream_gene_variant LIRI-JP 11 61096433 61096433 single base substitution T C downstream_gene_variant LIRI-JP 11 61096433 61096433 single base substitution T C intron_variant LIRI-JP 11 61096433 61096433 single base substitution T C upstream_gene_variant LIRI-JP 11 61096567 61096567 deletion of <=200bp A - downstream_gene_variant LIRI-JP 11 61096567 61096567 deletion of <=200bp A - intron_variant LIRI-JP 11 61096567 61096567 deletion of <=200bp A - upstream_gene_variant LIRI-JP 11 61097693 61097693 single base substitution T A intron_variant LIRI-JP 11 61097693 61097693 single base substitution T A upstream_gene_variant LIRI-JP 11 61100965 61100965 single base substitution G T intron_variant LIRI-JP 11 61100965 61100965 single base substitution G T upstream_gene_variant LIRI-JP 11 61102601 61102601 single base substitution A G intron_variant LIRI-JP 11 61102601 61102601 single base substitution A G upstream_gene_variant LIRI-JP 11 61105956 61105956 single base substitution C T intron_variant LIRI-JP 11 61105956 61105956 single base substitution C T upstream_gene_variant LIRI-JP 11 61106839 61106839 single base substitution G T intron_variant LIRI-JP 11 61113471 61113471 single base substitution C T upstream_gene_variant LIRI-JP 11 61114010 61114028 deletion of <=200bp TCACTGCTGTGCTGAGGTG - upstream_gene_variant LUSC-KR 11 61071895 61071895 single base substitution T C intron_variant LUSC-KR 11 61071895 61071895 single base substitution T C upstream_gene_variant LUSC-KR 11 61071943 61071943 single base substitution A G intron_variant LUSC-KR 11 61071943 61071943 single base substitution A G upstream_gene_variant LUSC-KR 11 61081366 61081366 single base substitution G A downstream_gene_variant LUSC-KR 11 61081366 61081366 single base substitution G A exon_variant LUSC-KR 11 61081366 61081366 single base substitution G A intron_variant LUSC-KR 11 61081366 61081366 single base substitution G A missense_variant A174V 521C>T LUSC-KR 11 61081366 61081366 single base substitution G A missense_variant A261V 782C>T LUSC-KR 11 61081366 61081366 single base substitution G A missense_variant A610V 1829C>T LUSC-KR 11 61081366 61081366 single base substitution G A missense_variant A77V 230C>T LUSC-KR 11 61081366 61081366 single base substitution G A upstream_gene_variant LUSC-KR 11 61085867 61085867 single base substitution T C downstream_gene_variant LUSC-KR 11 61085867 61085867 single base substitution T C intron_variant LUSC-KR 11 61085867 61085867 single base substitution T C upstream_gene_variant LUSC-KR 11 61087605 61087605 single base substitution T C downstream_gene_variant LUSC-KR 11 61087605 61087605 single base substitution T C intron_variant LUSC-KR 11 61087605 61087605 single base substitution T C upstream_gene_variant LUSC-KR 11 61091474 61091474 single base substitution G C downstream_gene_variant LUSC-KR 11 61091474 61091474 single base substitution G C exon_variant LUSC-KR 11 61091474 61091474 single base substitution G C intron_variant LUSC-KR 11 61091474 61091474 single base substitution G C missense_variant L115V 343C>G LUSC-KR 11 61091474 61091474 single base substitution G C missense_variant L300V 898C>G LUSC-KR 11 61091474 61091474 single base substitution G C missense_variant L83V 247C>G LUSC-KR 11 61091474 61091474 single base substitution G C upstream_gene_variant LUSC-KR 11 61095834 61095834 single base substitution C A downstream_gene_variant LUSC-KR 11 61095834 61095834 single base substitution C A intron_variant LUSC-KR 11 61095834 61095834 single base substitution C A upstream_gene_variant LUSC-KR 11 61096359 61096359 single base substitution A T downstream_gene_variant LUSC-KR 11 61096359 61096359 single base substitution A T intron_variant LUSC-KR 11 61096359 61096359 single base substitution A T upstream_gene_variant LUSC-KR 11 61097308 61097308 single base substitution C A downstream_gene_variant LUSC-KR 11 61097308 61097308 single base substitution C A intron_variant LUSC-KR 11 61097308 61097308 single base substitution C A upstream_gene_variant LUSC-KR 11 61106570 61106570 single base substitution A G intron_variant LUSC-KR 11 61109879 61109879 single base substitution A G 5_prime_UTR_variant LUSC-KR 11 61110059 61110059 single base substitution A G 5_prime_UTR_variant LUSC-KR 11 61111803 61111803 single base substitution A C upstream_gene_variant LUSC-US 11 61067618 61067618 single base substitution C T 3_prime_UTR_variant LUSC-US 11 61067618 61067618 single base substitution C T downstream_gene_variant LUSC-US 11 61067618 61067618 single base substitution C T exon_variant LUSC-US 11 61067618 61067618 single base substitution C T missense_variant R1138Q 3413G>A LUSC-US 11 61067618 61067618 single base substitution C T missense_variant R125Q 374G>A LUSC-US 11 61067618 61067618 single base substitution C T missense_variant R185Q 554G>A LUSC-US 11 61067618 61067618 single base substitution C T missense_variant R449Q 1346G>A LUSC-US 11 61067638 61067638 single base substitution C A 3_prime_UTR_variant LUSC-US 11 61067638 61067638 single base substitution C A downstream_gene_variant LUSC-US 11 61067638 61067638 single base substitution C A exon_variant LUSC-US 11 61067638 61067638 single base substitution C A missense_variant K1131N 3393G>T LUSC-US 11 61067638 61067638 single base substitution C A missense_variant K118N 354G>T LUSC-US 11 61067638 61067638 single base substitution C A missense_variant K178N 534G>T LUSC-US 11 61067638 61067638 single base substitution C A missense_variant K442N 1326G>T LUSC-US 11 61070589 61070589 single base substitution C A exon_variant LUSC-US 11 61070589 61070589 single base substitution C A synonymous_variant V123V 369G>T LUSC-US 11 61070589 61070589 single base substitution C A synonymous_variant V268V 804G>T LUSC-US 11 61070589 61070589 single base substitution C A synonymous_variant V4V 12G>T LUSC-US 11 61070589 61070589 single base substitution C A synonymous_variant V957V 2871G>T LUSC-US 11 61070589 61070589 single base substitution C A upstream_gene_variant LUSC-US 11 61070621 61070621 single base substitution G T 5_prime_UTR_variant LUSC-US 11 61070621 61070621 single base substitution G T exon_variant LUSC-US 11 61070621 61070621 single base substitution G T synonymous_variant R113R 337C>A LUSC-US 11 61070621 61070621 single base substitution G T synonymous_variant R258R 772C>A LUSC-US 11 61070621 61070621 single base substitution G T synonymous_variant R947R 2839C>A LUSC-US 11 61070621 61070621 single base substitution G T upstream_gene_variant LUSC-US 11 61071505 61071505 single base substitution C T splice_region_variant LUSC-US 11 61071505 61071505 single base substitution C T upstream_gene_variant LUSC-US 11 61081072 61081072 single base substitution G T downstream_gene_variant LUSC-US 11 61081072 61081072 single base substitution G T exon_variant LUSC-US 11 61081072 61081072 single base substitution G T intron_variant LUSC-US 11 61081072 61081072 single base substitution G T synonymous_variant P123P 369C>A LUSC-US 11 61081072 61081072 single base substitution G T synonymous_variant P220P 660C>A LUSC-US 11 61081072 61081072 single base substitution G T synonymous_variant P656P 1968C>A LUSC-US 11 61081072 61081072 single base substitution G T upstream_gene_variant LUSC-US 11 61083759 61083759 single base substitution G T downstream_gene_variant LUSC-US 11 61083759 61083759 single base substitution G T intron_variant LUSC-US 11 61083759 61083759 single base substitution G T missense_variant Q121K 361C>A LUSC-US 11 61083759 61083759 single base substitution G T missense_variant Q189K 565C>A LUSC-US 11 61083759 61083759 single base substitution G T missense_variant Q253K 757C>A LUSC-US 11 61083759 61083759 single base substitution G T missense_variant Q34K 100C>A LUSC-US 11 61083759 61083759 single base substitution G T missense_variant Q470K 1408C>A LUSC-US 11 61083759 61083759 single base substitution G T splice_region_variant LUSC-US 11 61083759 61083759 single base substitution G T upstream_gene_variant LUSC-US 11 61110288 61110288 single base substitution C G upstream_gene_variant MALY-DE 11 61069409 61069409 single base substitution C T downstream_gene_variant MALY-DE 11 61069409 61069409 single base substitution C T exon_variant MALY-DE 11 61069409 61069409 single base substitution C T intron_variant MALY-DE 11 61071407 61071407 single base substitution A C exon_variant MALY-DE 11 61071407 61071407 single base substitution A C missense_variant I232S 695T>G MALY-DE 11 61071407 61071407 single base substitution A C missense_variant I87S 260T>G MALY-DE 11 61071407 61071407 single base substitution A C missense_variant I921S 2762T>G MALY-DE 11 61071407 61071407 single base substitution A C upstream_gene_variant MALY-DE 11 61076765 61076765 single base substitution C T downstream_gene_variant MALY-DE 11 61076765 61076765 single base substitution C T intron_variant MALY-DE 11 61091470 61091470 single base substitution C T downstream_gene_variant MALY-DE 11 61091470 61091470 single base substitution C T exon_variant MALY-DE 11 61091470 61091470 single base substitution C T intron_variant MALY-DE 11 61091470 61091470 single base substitution C T missense_variant R116H 347G>A MALY-DE 11 61091470 61091470 single base substitution C T missense_variant R301H 902G>A MALY-DE 11 61091470 61091470 single base substitution C T missense_variant R84H 251G>A MALY-DE 11 61091470 61091470 single base substitution C T upstream_gene_variant MALY-DE 11 61099113 61099113 single base substitution T C 5_prime_UTR_variant MALY-DE 11 61099113 61099113 single base substitution T C exon_variant MALY-DE 11 61099113 61099113 single base substitution T C missense_variant R38G 112A>G MALY-DE 11 61099113 61099113 single base substitution T C upstream_gene_variant MELA-AU 11 61062585 61062585 single base substitution C G downstream_gene_variant MELA-AU 11 61062623 61062623 single base substitution C T downstream_gene_variant MELA-AU 11 61062692 61062692 single base substitution G A downstream_gene_variant MELA-AU 11 61062797 61062797 single base substitution G A downstream_gene_variant MELA-AU 11 61063625 61063625 single base substitution C T downstream_gene_variant MELA-AU 11 61063913 61063913 single base substitution C T downstream_gene_variant MELA-AU 11 61064136 61064136 single base substitution T G downstream_gene_variant MELA-AU 11 61065802 61065802 single base substitution C T downstream_gene_variant MELA-AU 11 61066077 61066077 single base substitution G A downstream_gene_variant MELA-AU 11 61066131 61066131 single base substitution G A downstream_gene_variant MELA-AU 11 61067226 61067226 single base substitution A G 3_prime_UTR_variant MELA-AU 11 61067226 61067226 single base substitution A G downstream_gene_variant MELA-AU 11 61067226 61067226 single base substitution A G exon_variant MELA-AU 11 61067283 61067283 single base substitution G A 3_prime_UTR_variant MELA-AU 11 61067283 61067283 single base substitution G A downstream_gene_variant MELA-AU 11 61067283 61067283 single base substitution G A exon_variant MELA-AU 11 61067574 61067575 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 11 61067574 61067575 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 61067574 61067575 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 11 61067976 61067976 single base substitution G A downstream_gene_variant MELA-AU 11 61067976 61067976 single base substitution G A intron_variant MELA-AU 11 61068106 61068106 single base substitution C A downstream_gene_variant MELA-AU 11 61068106 61068106 single base substitution C A intron_variant MELA-AU 11 61068280 61068280 single base substitution C T downstream_gene_variant MELA-AU 11 61068280 61068280 single base substitution C T splice_donor_variant MELA-AU 11 61068440 61068440 single base substitution G A downstream_gene_variant MELA-AU 11 61068440 61068440 single base substitution G A exon_variant MELA-AU 11 61068440 61068440 single base substitution G A intron_variant MELA-AU 11 61068555 61068555 single base substitution G A downstream_gene_variant MELA-AU 11 61068555 61068555 single base substitution G A exon_variant MELA-AU 11 61068555 61068555 single base substitution G A intron_variant MELA-AU 11 61069236 61069236 single base substitution G A downstream_gene_variant MELA-AU 11 61069236 61069236 single base substitution G A exon_variant MELA-AU 11 61069236 61069236 single base substitution G A intron_variant MELA-AU 11 61069568 61069568 single base substitution G A downstream_gene_variant MELA-AU 11 61069568 61069568 single base substitution G A exon_variant MELA-AU 11 61069568 61069568 single base substitution G A intron_variant MELA-AU 11 61069685 61069685 single base substitution C T downstream_gene_variant MELA-AU 11 61069685 61069685 single base substitution C T exon_variant MELA-AU 11 61069685 61069685 single base substitution C T intron_variant MELA-AU 11 61069934 61069935 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 11 61069934 61069935 multiple base substitution (>=2bp and <=200bp) GT AA exon_variant MELA-AU 11 61069934 61069935 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 11 61070041 61070041 single base substitution G A downstream_gene_variant MELA-AU 11 61070041 61070041 single base substitution G A intron_variant MELA-AU 11 61070041 61070041 single base substitution G A upstream_gene_variant MELA-AU 11 61070410 61070410 single base substitution C T intron_variant MELA-AU 11 61070410 61070410 single base substitution C T upstream_gene_variant MELA-AU 11 61070472 61070472 single base substitution G A intron_variant MELA-AU 11 61070472 61070472 single base substitution G A upstream_gene_variant MELA-AU 11 61070583 61070583 single base substitution G A exon_variant MELA-AU 11 61070583 61070583 single base substitution G A synonymous_variant I125I 375C>T MELA-AU 11 61070583 61070583 single base substitution G A synonymous_variant I270I 810C>T MELA-AU 11 61070583 61070583 single base substitution G A synonymous_variant I6I 18C>T MELA-AU 11 61070583 61070583 single base substitution G A synonymous_variant I959I 2877C>T MELA-AU 11 61070583 61070583 single base substitution G A upstream_gene_variant MELA-AU 11 61070676 61070676 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 11 61070676 61070676 single base substitution G A intron_variant MELA-AU 11 61070676 61070676 single base substitution G A upstream_gene_variant MELA-AU 11 61071235 61071235 single base substitution T C intron_variant MELA-AU 11 61071235 61071235 single base substitution T C upstream_gene_variant MELA-AU 11 61071716 61071716 single base substitution G A intron_variant MELA-AU 11 61071716 61071716 single base substitution G A upstream_gene_variant MELA-AU 11 61071770 61071770 single base substitution G A intron_variant MELA-AU 11 61071770 61071770 single base substitution G A upstream_gene_variant MELA-AU 11 61072143 61072143 single base substitution G A intron_variant MELA-AU 11 61072143 61072143 single base substitution G A upstream_gene_variant MELA-AU 11 61072378 61072378 single base substitution A T downstream_gene_variant MELA-AU 11 61072378 61072378 single base substitution A T intron_variant MELA-AU 11 61072378 61072378 single base substitution A T upstream_gene_variant MELA-AU 11 61072533 61072533 single base substitution C T downstream_gene_variant MELA-AU 11 61072533 61072533 single base substitution C T intron_variant MELA-AU 11 61072533 61072533 single base substitution C T upstream_gene_variant MELA-AU 11 61073477 61073477 deletion of <=200bp A - downstream_gene_variant MELA-AU 11 61073477 61073477 deletion of <=200bp A - intron_variant MELA-AU 11 61073477 61073477 deletion of <=200bp A - upstream_gene_variant MELA-AU 11 61073581 61073581 single base substitution G A downstream_gene_variant MELA-AU 11 61073581 61073581 single base substitution G A intron_variant MELA-AU 11 61073581 61073581 single base substitution G A upstream_gene_variant MELA-AU 11 61074204 61074204 single base substitution C T downstream_gene_variant MELA-AU 11 61074204 61074204 single base substitution C T intron_variant MELA-AU 11 61074204 61074204 single base substitution C T upstream_gene_variant MELA-AU 11 61074887 61074887 single base substitution G A downstream_gene_variant MELA-AU 11 61074887 61074887 single base substitution G A intron_variant MELA-AU 11 61074887 61074887 single base substitution G A upstream_gene_variant MELA-AU 11 61075350 61075350 single base substitution C T downstream_gene_variant MELA-AU 11 61075350 61075350 single base substitution C T intron_variant MELA-AU 11 61075350 61075350 single base substitution C T upstream_gene_variant MELA-AU 11 61076084 61076084 single base substitution G A downstream_gene_variant MELA-AU 11 61076084 61076084 single base substitution G A intron_variant MELA-AU 11 61076693 61076693 single base substitution G A downstream_gene_variant MELA-AU 11 61076693 61076693 single base substitution G A intron_variant MELA-AU 11 61076998 61076998 single base substitution G A downstream_gene_variant MELA-AU 11 61076998 61076998 single base substitution G A intron_variant MELA-AU 11 61077753 61077753 single base substitution G A downstream_gene_variant MELA-AU 11 61077753 61077753 single base substitution G A intron_variant MELA-AU 11 61078024 61078024 single base substitution G A 5_prime_UTR_variant MELA-AU 11 61078024 61078024 single base substitution G A downstream_gene_variant MELA-AU 11 61078024 61078024 single base substitution G A intron_variant MELA-AU 11 61080392 61080392 single base substitution C G downstream_gene_variant MELA-AU 11 61080392 61080392 single base substitution C G intron_variant MELA-AU 11 61080392 61080392 single base substitution C G upstream_gene_variant MELA-AU 11 61080444 61080444 single base substitution C G downstream_gene_variant MELA-AU 11 61080444 61080444 single base substitution C G intron_variant MELA-AU 11 61080444 61080444 single base substitution C G upstream_gene_variant MELA-AU 11 61080533 61080533 single base substitution C T downstream_gene_variant MELA-AU 11 61080533 61080533 single base substitution C T intron_variant MELA-AU 11 61080533 61080533 single base substitution C T upstream_gene_variant MELA-AU 11 61080750 61080750 single base substitution G A downstream_gene_variant MELA-AU 11 61080750 61080750 single base substitution G A intron_variant MELA-AU 11 61080750 61080750 single base substitution G A upstream_gene_variant MELA-AU 11 61081116 61081116 single base substitution G A downstream_gene_variant MELA-AU 11 61081116 61081116 single base substitution G A exon_variant MELA-AU 11 61081116 61081116 single base substitution G A intron_variant MELA-AU 11 61081116 61081116 single base substitution G A missense_variant R109C 325C>T MELA-AU 11 61081116 61081116 single base substitution G A missense_variant R206C 616C>T MELA-AU 11 61081116 61081116 single base substitution G A missense_variant R642C 1924C>T MELA-AU 11 61081116 61081116 single base substitution G A upstream_gene_variant MELA-AU 11 61081425 61081425 single base substitution G A downstream_gene_variant MELA-AU 11 61081425 61081425 single base substitution G A exon_variant MELA-AU 11 61081425 61081425 single base substitution G A intron_variant MELA-AU 11 61081425 61081425 single base substitution G A synonymous_variant S154S 462C>T MELA-AU 11 61081425 61081425 single base substitution G A synonymous_variant S241S 723C>T MELA-AU 11 61081425 61081425 single base substitution G A synonymous_variant S57S 171C>T MELA-AU 11 61081425 61081425 single base substitution G A synonymous_variant S590S 1770C>T MELA-AU 11 61081425 61081425 single base substitution G A upstream_gene_variant MELA-AU 11 61081426 61081426 single base substitution G A downstream_gene_variant MELA-AU 11 61081426 61081426 single base substitution G A exon_variant MELA-AU 11 61081426 61081426 single base substitution G A intron_variant MELA-AU 11 61081426 61081426 single base substitution G A missense_variant S154F 461C>T MELA-AU 11 61081426 61081426 single base substitution G A missense_variant S241F 722C>T MELA-AU 11 61081426 61081426 single base substitution G A missense_variant S57F 170C>T MELA-AU 11 61081426 61081426 single base substitution G A missense_variant S590F 1769C>T MELA-AU 11 61081426 61081426 single base substitution G A upstream_gene_variant MELA-AU 11 61081695 61081695 single base substitution G C downstream_gene_variant MELA-AU 11 61081695 61081695 single base substitution G C intron_variant MELA-AU 11 61081695 61081695 single base substitution G C upstream_gene_variant MELA-AU 11 61082039 61082039 single base substitution C T 5_prime_UTR_variant MELA-AU 11 61082039 61082039 single base substitution C T downstream_gene_variant MELA-AU 11 61082039 61082039 single base substitution C T exon_variant MELA-AU 11 61082039 61082039 single base substitution C T intron_variant MELA-AU 11 61082039 61082039 single base substitution C T upstream_gene_variant MELA-AU 11 61082250 61082250 single base substitution G A 5_prime_UTR_variant MELA-AU 11 61082250 61082250 single base substitution G A downstream_gene_variant MELA-AU 11 61082250 61082250 single base substitution G A exon_variant MELA-AU 11 61082250 61082250 single base substitution G A intron_variant MELA-AU 11 61082250 61082250 single base substitution G A upstream_gene_variant MELA-AU 11 61082568 61082568 single base substitution G A 5_prime_UTR_variant MELA-AU 11 61082568 61082568 single base substitution G A downstream_gene_variant MELA-AU 11 61082568 61082568 single base substitution G A exon_variant MELA-AU 11 61082568 61082568 single base substitution G A intron_variant MELA-AU 11 61082568 61082568 single base substitution G A upstream_gene_variant MELA-AU 11 61083339 61083340 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 11 61083339 61083340 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 61083339 61083340 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 61083339 61083340 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 61083423 61083423 single base substitution G A 5_prime_UTR_variant MELA-AU 11 61083423 61083423 single base substitution G A downstream_gene_variant MELA-AU 11 61083423 61083423 single base substitution G A intron_variant MELA-AU 11 61083423 61083423 single base substitution G A upstream_gene_variant MELA-AU 11 61083851 61083851 single base substitution T A downstream_gene_variant MELA-AU 11 61083851 61083851 single base substitution T A exon_variant MELA-AU 11 61083851 61083851 single base substitution T A intron_variant MELA-AU 11 61083851 61083851 single base substitution T A missense_variant N158I 473A>T MELA-AU 11 61083851 61083851 single base substitution T A missense_variant N222I 665A>T MELA-AU 11 61083851 61083851 single base substitution T A missense_variant N3I 8A>T MELA-AU 11 61083851 61083851 single base substitution T A missense_variant N439I 1316A>T MELA-AU 11 61083851 61083851 single base substitution T A missense_variant N90I 269A>T MELA-AU 11 61083851 61083851 single base substitution T A upstream_gene_variant MELA-AU 11 61083879 61083879 single base substitution G A downstream_gene_variant MELA-AU 11 61083879 61083879 single base substitution G A intron_variant MELA-AU 11 61083879 61083879 single base substitution G A upstream_gene_variant MELA-AU 11 61084299 61084299 single base substitution G A downstream_gene_variant MELA-AU 11 61084299 61084299 single base substitution G A intron_variant MELA-AU 11 61084299 61084299 single base substitution G A upstream_gene_variant MELA-AU 11 61085240 61085241 multiple base substitution (>=2bp and <=200bp) GT AC downstream_gene_variant MELA-AU 11 61085240 61085241 multiple base substitution (>=2bp and <=200bp) GT AC intron_variant MELA-AU 11 61085240 61085241 multiple base substitution (>=2bp and <=200bp) GT AC upstream_gene_variant MELA-AU 11 61086497 61086498 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 61086497 61086498 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 61086497 61086498 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 61087317 61087317 single base substitution G A downstream_gene_variant MELA-AU 11 61087317 61087317 single base substitution G A intron_variant MELA-AU 11 61087317 61087317 single base substitution G A upstream_gene_variant MELA-AU 11 61089139 61089139 single base substitution C T 5_prime_UTR_variant MELA-AU 11 61089139 61089139 single base substitution C T downstream_gene_variant MELA-AU 11 61089139 61089139 single base substitution C T exon_variant MELA-AU 11 61089139 61089139 single base substitution C T intron_variant MELA-AU 11 61089139 61089139 single base substitution C T missense_variant G104S 310G>A MELA-AU 11 61089139 61089139 single base substitution C T missense_variant G168S 502G>A MELA-AU 11 61089139 61089139 single base substitution C T missense_variant G36S 106G>A MELA-AU 11 61089139 61089139 single base substitution C T missense_variant G385S 1153G>A MELA-AU 11 61090514 61090514 single base substitution C A downstream_gene_variant MELA-AU 11 61090514 61090514 single base substitution C A exon_variant MELA-AU 11 61090514 61090514 single base substitution C A intron_variant MELA-AU 11 61090514 61090514 single base substitution C A missense_variant G108V 323G>T MELA-AU 11 61090514 61090514 single base substitution C A missense_variant G140V 419G>T MELA-AU 11 61090514 61090514 single base substitution C A missense_variant G325V 974G>T MELA-AU 11 61090514 61090514 single base substitution C A missense_variant G44V 131G>T MELA-AU 11 61090514 61090514 single base substitution C A upstream_gene_variant MELA-AU 11 61090847 61090847 single base substitution G A 5_prime_UTR_variant MELA-AU 11 61090847 61090847 single base substitution G A downstream_gene_variant MELA-AU 11 61090847 61090847 single base substitution G A intron_variant MELA-AU 11 61090847 61090847 single base substitution G A upstream_gene_variant MELA-AU 11 61091020 61091020 single base substitution G A 5_prime_UTR_variant MELA-AU 11 61091020 61091020 single base substitution G A downstream_gene_variant MELA-AU 11 61091020 61091020 single base substitution G A intron_variant MELA-AU 11 61091020 61091020 single base substitution G A upstream_gene_variant MELA-AU 11 61091677 61091677 single base substitution G A downstream_gene_variant MELA-AU 11 61091677 61091677 single base substitution G A exon_variant MELA-AU 11 61091677 61091677 single base substitution G A intron_variant MELA-AU 11 61091677 61091677 single base substitution G A upstream_gene_variant MELA-AU 11 61092182 61092182 single base substitution G A downstream_gene_variant MELA-AU 11 61092182 61092182 single base substitution G A intron_variant MELA-AU 11 61092182 61092182 single base substitution G A upstream_gene_variant MELA-AU 11 61092412 61092412 single base substitution G A downstream_gene_variant MELA-AU 11 61092412 61092412 single base substitution G A intron_variant MELA-AU 11 61092412 61092412 single base substitution G A upstream_gene_variant MELA-AU 11 61092515 61092515 single base substitution G A downstream_gene_variant MELA-AU 11 61092515 61092515 single base substitution G A intron_variant MELA-AU 11 61092515 61092515 single base substitution G A upstream_gene_variant MELA-AU 11 61092915 61092915 single base substitution G A downstream_gene_variant MELA-AU 11 61092915 61092915 single base substitution G A intron_variant MELA-AU 11 61092915 61092915 single base substitution G A upstream_gene_variant MELA-AU 11 61093171 61093171 single base substitution G A downstream_gene_variant MELA-AU 11 61093171 61093171 single base substitution G A exon_variant MELA-AU 11 61093171 61093171 single base substitution G A intron_variant MELA-AU 11 61093171 61093171 single base substitution G A missense_variant P225L 674C>T MELA-AU 11 61093171 61093171 single base substitution G A missense_variant P40L 119C>T MELA-AU 11 61093171 61093171 single base substitution G A missense_variant P8L 23C>T MELA-AU 11 61093171 61093171 single base substitution G A upstream_gene_variant MELA-AU 11 61094200 61094200 single base substitution G A downstream_gene_variant MELA-AU 11 61094200 61094200 single base substitution G A intron_variant MELA-AU 11 61094200 61094200 single base substitution G A upstream_gene_variant MELA-AU 11 61095225 61095225 single base substitution G A downstream_gene_variant MELA-AU 11 61095225 61095225 single base substitution G A intron_variant MELA-AU 11 61095225 61095225 single base substitution G A upstream_gene_variant MELA-AU 11 61095918 61095918 single base substitution G A downstream_gene_variant MELA-AU 11 61095918 61095918 single base substitution G A intron_variant MELA-AU 11 61095918 61095918 single base substitution G A upstream_gene_variant MELA-AU 11 61097081 61097081 single base substitution G A downstream_gene_variant MELA-AU 11 61097081 61097081 single base substitution G A intron_variant MELA-AU 11 61097081 61097081 single base substitution G A upstream_gene_variant MELA-AU 11 61097248 61097248 single base substitution T C downstream_gene_variant MELA-AU 11 61097248 61097248 single base substitution T C intron_variant MELA-AU 11 61097248 61097248 single base substitution T C upstream_gene_variant MELA-AU 11 61097904 61097904 single base substitution G A intron_variant MELA-AU 11 61097904 61097904 single base substitution G A upstream_gene_variant MELA-AU 11 61097923 61097923 single base substitution A G intron_variant MELA-AU 11 61097923 61097923 single base substitution A G upstream_gene_variant MELA-AU 11 61098001 61098001 single base substitution G A intron_variant MELA-AU 11 61098001 61098001 single base substitution G A upstream_gene_variant MELA-AU 11 61098660 61098660 single base substitution C T intron_variant MELA-AU 11 61098660 61098660 single base substitution C T upstream_gene_variant MELA-AU 11 61099885 61099885 single base substitution C T intron_variant MELA-AU 11 61099885 61099885 single base substitution C T upstream_gene_variant MELA-AU 11 61100465 61100466 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 11 61100465 61100466 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 11 61100465 61100466 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 61101198 61101198 single base substitution C T 5_prime_UTR_variant MELA-AU 11 61101198 61101198 single base substitution C T intron_variant MELA-AU 11 61101198 61101198 single base substitution C T upstream_gene_variant MELA-AU 11 61101711 61101711 single base substitution C T intron_variant MELA-AU 11 61101711 61101711 single base substitution C T upstream_gene_variant MELA-AU 11 61102351 61102351 single base substitution C T intron_variant MELA-AU 11 61102351 61102351 single base substitution C T upstream_gene_variant MELA-AU 11 61103429 61103429 single base substitution G C intron_variant MELA-AU 11 61103429 61103429 single base substitution G C upstream_gene_variant MELA-AU 11 61104636 61104636 single base substitution G A intron_variant MELA-AU 11 61104636 61104636 single base substitution G A upstream_gene_variant MELA-AU 11 61104789 61104789 single base substitution C T intron_variant MELA-AU 11 61104789 61104789 single base substitution C T upstream_gene_variant MELA-AU 11 61105310 61105311 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 61105310 61105311 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 61105971 61105971 single base substitution C T intron_variant MELA-AU 11 61105971 61105971 single base substitution C T upstream_gene_variant MELA-AU 11 61106296 61106296 single base substitution G A intron_variant MELA-AU 11 61106384 61106386 deletion of <=200bp AAG - intron_variant MELA-AU 11 61106520 61106520 single base substitution C T intron_variant MELA-AU 11 61106720 61106720 single base substitution C T intron_variant MELA-AU 11 61108330 61108330 single base substitution C T intron_variant MELA-AU 11 61108817 61108817 single base substitution C T intron_variant MELA-AU 11 61109316 61109316 single base substitution C T intron_variant MELA-AU 11 61110162 61110162 single base substitution C T upstream_gene_variant MELA-AU 11 61110905 61110905 single base substitution G A upstream_gene_variant MELA-AU 11 61111160 61111160 single base substitution C T upstream_gene_variant MELA-AU 11 61111925 61111925 single base substitution C T upstream_gene_variant MELA-AU 11 61112263 61112263 single base substitution C T upstream_gene_variant MELA-AU 11 61112404 61112404 single base substitution T C upstream_gene_variant MELA-AU 11 61112501 61112501 single base substitution G A upstream_gene_variant MELA-AU 11 61112523 61112523 single base substitution G A upstream_gene_variant MELA-AU 11 61112535 61112535 single base substitution G A upstream_gene_variant MELA-AU 11 61112953 61112953 single base substitution C T upstream_gene_variant MELA-AU 11 61113646 61113646 single base substitution C A upstream_gene_variant MELA-AU 11 61114600 61114600 single base substitution G A upstream_gene_variant NBL-US 11 61079358 61079358 single base substitution G T downstream_gene_variant NBL-US 11 61079358 61079358 single base substitution G T exon_variant NBL-US 11 61079358 61079358 single base substitution G T intron_variant NBL-US 11 61079358 61079358 single base substitution G T stop_gained C192* 576C>A NBL-US 11 61079358 61079358 single base substitution G T stop_gained C725* 2175C>A NBL-US 11 61079358 61079358 single base substitution G T upstream_gene_variant ORCA-IN 11 61081077 61081077 single base substitution G A downstream_gene_variant ORCA-IN 11 61081077 61081077 single base substitution G A exon_variant ORCA-IN 11 61081077 61081077 single base substitution G A intron_variant ORCA-IN 11 61081077 61081077 single base substitution G A missense_variant R122C 364C>T ORCA-IN 11 61081077 61081077 single base substitution G A missense_variant R219C 655C>T ORCA-IN 11 61081077 61081077 single base substitution G A missense_variant R655C 1963C>T ORCA-IN 11 61081077 61081077 single base substitution G A upstream_gene_variant ORCA-IN 11 61109372 61109372 single base substitution G A intron_variant OV-AU 11 61063379 61063379 single base substitution G A downstream_gene_variant OV-AU 11 61068011 61068011 single base substitution C G downstream_gene_variant OV-AU 11 61068011 61068011 single base substitution C G intron_variant OV-AU 11 61079498 61079498 single base substitution G C downstream_gene_variant OV-AU 11 61079498 61079498 single base substitution G C exon_variant OV-AU 11 61079498 61079498 single base substitution G C intron_variant OV-AU 11 61079498 61079498 single base substitution G C missense_variant L177V 529C>G OV-AU 11 61079498 61079498 single base substitution G C missense_variant L710V 2128C>G OV-AU 11 61079498 61079498 single base substitution G C upstream_gene_variant OV-AU 11 61080142 61080142 single base substitution C G downstream_gene_variant OV-AU 11 61080142 61080142 single base substitution C G intron_variant OV-AU 11 61080142 61080142 single base substitution C G upstream_gene_variant OV-AU 11 61080807 61080807 single base substitution C A downstream_gene_variant OV-AU 11 61080807 61080807 single base substitution C A intron_variant OV-AU 11 61080807 61080807 single base substitution C A upstream_gene_variant OV-AU 11 61085049 61085049 single base substitution G C downstream_gene_variant OV-AU 11 61085049 61085049 single base substitution G C intron_variant OV-AU 11 61085049 61085049 single base substitution G C upstream_gene_variant OV-AU 11 61087528 61087528 single base substitution A T downstream_gene_variant OV-AU 11 61087528 61087528 single base substitution A T intron_variant OV-AU 11 61087528 61087528 single base substitution A T upstream_gene_variant OV-AU 11 61093168 61093168 single base substitution A G downstream_gene_variant OV-AU 11 61093168 61093168 single base substitution A G exon_variant OV-AU 11 61093168 61093168 single base substitution A G intron_variant OV-AU 11 61093168 61093168 single base substitution A G missense_variant F226S 677T>C OV-AU 11 61093168 61093168 single base substitution A G missense_variant F41S 122T>C OV-AU 11 61093168 61093168 single base substitution A G missense_variant F9S 26T>C OV-AU 11 61093168 61093168 single base substitution A G upstream_gene_variant OV-AU 11 61094821 61094821 single base substitution G T downstream_gene_variant OV-AU 11 61094821 61094821 single base substitution G T intron_variant OV-AU 11 61094821 61094821 single base substitution G T upstream_gene_variant OV-AU 11 61100954 61100954 single base substitution G A intron_variant OV-AU 11 61100954 61100954 single base substitution G A upstream_gene_variant OV-AU 11 61106926 61106926 single base substitution C T intron_variant OV-AU 11 61107305 61107305 single base substitution C A intron_variant OV-AU 11 61107601 61107601 single base substitution G C intron_variant OV-AU 11 61110955 61110955 single base substitution C A upstream_gene_variant PACA-AU 11 61066678 61066678 single base substitution A G downstream_gene_variant PACA-AU 11 61067200 61067200 single base substitution C T 3_prime_UTR_variant PACA-AU 11 61067200 61067200 single base substitution C T downstream_gene_variant PACA-AU 11 61067200 61067200 single base substitution C T exon_variant PACA-AU 11 61072522 61072522 single base substitution C A downstream_gene_variant PACA-AU 11 61072522 61072522 single base substitution C A intron_variant PACA-AU 11 61072522 61072522 single base substitution C A upstream_gene_variant PACA-AU 11 61076560 61076560 insertion of <=200bp - A downstream_gene_variant PACA-AU 11 61076560 61076560 insertion of <=200bp - A intron_variant PACA-AU 11 61078795 61078795 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 11 61078795 61078795 single base substitution C T downstream_gene_variant PACA-AU 11 61078795 61078795 single base substitution C T intron_variant PACA-AU 11 61082996 61082996 single base substitution C T 5_prime_UTR_variant PACA-AU 11 61082996 61082996 single base substitution C T downstream_gene_variant PACA-AU 11 61082996 61082996 single base substitution C T exon_variant PACA-AU 11 61082996 61082996 single base substitution C T intron_variant PACA-AU 11 61082996 61082996 single base substitution C T splice_acceptor_variant PACA-AU 11 61082996 61082996 single base substitution C T upstream_gene_variant PACA-AU 11 61087054 61087054 single base substitution C A downstream_gene_variant PACA-AU 11 61087054 61087054 single base substitution C A intron_variant PACA-AU 11 61087054 61087054 single base substitution C A upstream_gene_variant PACA-AU 11 61096340 61096340 single base substitution T C downstream_gene_variant PACA-AU 11 61096340 61096340 single base substitution T C intron_variant PACA-AU 11 61096340 61096340 single base substitution T C upstream_gene_variant PACA-AU 11 61100205 61100205 single base substitution C T 5_prime_UTR_variant PACA-AU 11 61100205 61100205 single base substitution C T intron_variant PACA-AU 11 61100205 61100205 single base substitution C T upstream_gene_variant PACA-AU 11 61105958 61105958 single base substitution C T intron_variant PACA-AU 11 61105958 61105958 single base substitution C T upstream_gene_variant PACA-AU 11 61109902 61109902 single base substitution G A 5_prime_UTR_variant PACA-CA 11 61065914 61065914 single base substitution C A downstream_gene_variant PACA-CA 11 61072001 61072001 single base substitution A G intron_variant PACA-CA 11 61072001 61072001 single base substitution A G upstream_gene_variant PACA-CA 11 61074330 61074330 single base substitution C T downstream_gene_variant PACA-CA 11 61074330 61074330 single base substitution C T intron_variant PACA-CA 11 61074330 61074330 single base substitution C T upstream_gene_variant PACA-CA 11 61079318 61079318 single base substitution G A downstream_gene_variant PACA-CA 11 61079318 61079318 single base substitution G A exon_variant PACA-CA 11 61079318 61079318 single base substitution G A intron_variant PACA-CA 11 61079318 61079318 single base substitution G A missense_variant R206C 616C>T PACA-CA 11 61079318 61079318 single base substitution G A missense_variant R739C 2215C>T PACA-CA 11 61079318 61079318 single base substitution G A upstream_gene_variant PACA-CA 11 61079586 61079586 single base substitution G A downstream_gene_variant PACA-CA 11 61079586 61079586 single base substitution G A intron_variant PACA-CA 11 61079586 61079586 single base substitution G A upstream_gene_variant PACA-CA 11 61092011 61092011 single base substitution A T downstream_gene_variant PACA-CA 11 61092011 61092011 single base substitution A T intron_variant PACA-CA 11 61092011 61092011 single base substitution A T upstream_gene_variant PACA-CA 11 61092821 61092821 single base substitution G A downstream_gene_variant PACA-CA 11 61092821 61092821 single base substitution G A intron_variant PACA-CA 11 61092821 61092821 single base substitution G A upstream_gene_variant PACA-CA 11 61094191 61094191 single base substitution C G downstream_gene_variant PACA-CA 11 61094191 61094191 single base substitution C G intron_variant PACA-CA 11 61094191 61094191 single base substitution C G upstream_gene_variant PACA-CA 11 61097501 61097501 single base substitution C T exon_variant PACA-CA 11 61097501 61097501 single base substitution C T intron_variant PACA-CA 11 61097501 61097501 single base substitution C T missense_variant A30T 88G>A PACA-CA 11 61097501 61097501 single base substitution C T missense_variant A86T 256G>A PACA-CA 11 61097501 61097501 single base substitution C T upstream_gene_variant PACA-CA 11 61100649 61100649 single base substitution C T 5_prime_UTR_variant PACA-CA 11 61100649 61100649 single base substitution C T intron_variant PACA-CA 11 61100649 61100649 single base substitution C T upstream_gene_variant PACA-CA 11 61100913 61100913 single base substitution C A intron_variant PACA-CA 11 61100913 61100913 single base substitution C A upstream_gene_variant PACA-CA 11 61111416 61111416 single base substitution C A upstream_gene_variant PACA-CA 11 61112655 61112655 single base substitution C A upstream_gene_variant PAEN-AU 11 61062587 61062587 single base substitution C T downstream_gene_variant PAEN-AU 11 61063632 61063632 single base substitution G A downstream_gene_variant PAEN-IT 11 61112748 61112748 single base substitution G T upstream_gene_variant PBCA-DE 11 61100800 61100800 single base substitution A G 5_prime_UTR_variant PBCA-DE 11 61100800 61100800 single base substitution A G intron_variant PBCA-DE 11 61100800 61100800 single base substitution A G upstream_gene_variant PBCA-DE 11 61101168 61101168 single base substitution C T 5_prime_UTR_variant PBCA-DE 11 61101168 61101168 single base substitution C T intron_variant PBCA-DE 11 61101168 61101168 single base substitution C T upstream_gene_variant PRAD-CA 11 61075552 61075552 single base substitution T C downstream_gene_variant PRAD-CA 11 61075552 61075552 single base substitution T C intron_variant PRAD-CA 11 61075552 61075552 single base substitution T C upstream_gene_variant PRAD-CA 11 61112883 61112883 single base substitution T G upstream_gene_variant PRAD-UK 11 61073296 61073296 single base substitution A G downstream_gene_variant PRAD-UK 11 61073296 61073296 single base substitution A G intron_variant PRAD-UK 11 61073296 61073296 single base substitution A G upstream_gene_variant PRAD-UK 11 61075871 61075871 single base substitution C T downstream_gene_variant PRAD-UK 11 61075871 61075871 single base substitution C T intron_variant PRAD-UK 11 61086547 61086547 single base substitution G A downstream_gene_variant PRAD-UK 11 61086547 61086547 single base substitution G A intron_variant PRAD-UK 11 61086547 61086547 single base substitution G A upstream_gene_variant PRAD-UK 11 61104602 61104602 single base substitution C A intron_variant PRAD-UK 11 61104602 61104602 single base substitution C A upstream_gene_variant PRAD-US 11 61111398 61111398 single base substitution G A upstream_gene_variant READ-US 11 61089810 61089810 single base substitution G A downstream_gene_variant READ-US 11 61089810 61089810 single base substitution G A exon_variant READ-US 11 61089810 61089810 single base substitution G A intron_variant READ-US 11 61089810 61089810 single base substitution G A synonymous_variant V11V 33C>T READ-US 11 61089810 61089810 single base substitution G A synonymous_variant V143V 429C>T READ-US 11 61089810 61089810 single base substitution G A synonymous_variant V175V 525C>T READ-US 11 61089810 61089810 single base substitution G A synonymous_variant V360V 1080C>T READ-US 11 61089810 61089810 single base substitution G A synonymous_variant V79V 237C>T READ-US 11 61089810 61089810 single base substitution G A upstream_gene_variant READ-US 11 61094297 61094297 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant READ-US 11 61094297 61094297 single base substitution A G downstream_gene_variant READ-US 11 61094297 61094297 single base substitution A G exon_variant READ-US 11 61094297 61094297 single base substitution A G intron_variant READ-US 11 61094297 61094297 single base substitution A G synonymous_variant P150P 450T>C READ-US 11 61094297 61094297 single base substitution A G synonymous_variant P206P 618T>C READ-US 11 61094297 61094297 single base substitution A G upstream_gene_variant RECA-EU 11 61068989 61068989 single base substitution G T downstream_gene_variant RECA-EU 11 61068989 61068989 single base substitution G T exon_variant RECA-EU 11 61068989 61068989 single base substitution G T intron_variant RECA-EU 11 61073321 61073321 single base substitution T C downstream_gene_variant RECA-EU 11 61073321 61073321 single base substitution T C intron_variant RECA-EU 11 61073321 61073321 single base substitution T C upstream_gene_variant RECA-EU 11 61085536 61085536 single base substitution T A downstream_gene_variant RECA-EU 11 61085536 61085536 single base substitution T A intron_variant RECA-EU 11 61085536 61085536 single base substitution T A upstream_gene_variant RECA-EU 11 61090778 61090778 single base substitution A T 5_prime_UTR_variant RECA-EU 11 61090778 61090778 single base substitution A T downstream_gene_variant RECA-EU 11 61090778 61090778 single base substitution A T intron_variant RECA-EU 11 61090778 61090778 single base substitution A T upstream_gene_variant RECA-EU 11 61098800 61098800 single base substitution C A intron_variant RECA-EU 11 61098800 61098800 single base substitution C A upstream_gene_variant SKCA-BR 11 61062834 61062834 single base substitution T G downstream_gene_variant SKCA-BR 11 61067268 61067268 insertion of <=200bp - TAC 3_prime_UTR_variant SKCA-BR 11 61067268 61067268 insertion of <=200bp - TAC downstream_gene_variant SKCA-BR 11 61067268 61067268 insertion of <=200bp - TAC exon_variant SKCA-BR 11 61072375 61072375 single base substitution G A downstream_gene_variant SKCA-BR 11 61072375 61072375 single base substitution G A intron_variant SKCA-BR 11 61072375 61072375 single base substitution G A upstream_gene_variant SKCA-BR 11 61077726 61077726 single base substitution G A downstream_gene_variant SKCA-BR 11 61077726 61077726 single base substitution G A intron_variant SKCA-BR 11 61078730 61078735 deletion of <=200bp AAACAT - 5_prime_UTR_variant SKCA-BR 11 61078730 61078735 deletion of <=200bp AAACAT - downstream_gene_variant SKCA-BR 11 61078730 61078735 deletion of <=200bp AAACAT - intron_variant SKCA-BR 11 61084009 61084009 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 11 61084009 61084009 single base substitution C T downstream_gene_variant SKCA-BR 11 61084009 61084009 single base substitution C T exon_variant SKCA-BR 11 61084009 61084009 single base substitution C T intron_variant SKCA-BR 11 61084009 61084009 single base substitution C T missense_variant R138H 413G>A SKCA-BR 11 61084009 61084009 single base substitution C T missense_variant R202H 605G>A SKCA-BR 11 61084009 61084009 single base substitution C T missense_variant R419H 1256G>A SKCA-BR 11 61084009 61084009 single base substitution C T missense_variant R70H 209G>A SKCA-BR 11 61084009 61084009 single base substitution C T upstream_gene_variant SKCA-BR 11 61087277 61087277 single base substitution G A downstream_gene_variant SKCA-BR 11 61087277 61087277 single base substitution G A intron_variant SKCA-BR 11 61087277 61087277 single base substitution G A upstream_gene_variant SKCA-BR 11 61089456 61089456 single base substitution A C 5_prime_UTR_variant SKCA-BR 11 61089456 61089456 single base substitution A C downstream_gene_variant SKCA-BR 11 61089456 61089456 single base substitution A C intron_variant SKCA-BR 11 61090013 61090013 single base substitution G A 5_prime_UTR_variant SKCA-BR 11 61090013 61090013 single base substitution G A downstream_gene_variant SKCA-BR 11 61090013 61090013 single base substitution G A intron_variant SKCA-BR 11 61090013 61090013 single base substitution G A upstream_gene_variant SKCA-BR 11 61091154 61091154 single base substitution G A 5_prime_UTR_variant SKCA-BR 11 61091154 61091154 single base substitution G A downstream_gene_variant SKCA-BR 11 61091154 61091154 single base substitution G A intron_variant SKCA-BR 11 61091154 61091154 single base substitution G A upstream_gene_variant SKCA-BR 11 61093814 61093814 single base substitution G A downstream_gene_variant SKCA-BR 11 61093814 61093814 single base substitution G A intron_variant SKCA-BR 11 61093814 61093814 single base substitution G A upstream_gene_variant SKCA-BR 11 61102098 61102098 single base substitution C T intron_variant SKCA-BR 11 61102098 61102098 single base substitution C T upstream_gene_variant SKCA-BR 11 61103823 61103823 single base substitution C T intron_variant SKCA-BR 11 61103823 61103823 single base substitution C T upstream_gene_variant SKCA-BR 11 61104256 61104256 single base substitution A C intron_variant SKCA-BR 11 61104256 61104256 single base substitution A C upstream_gene_variant SKCA-BR 11 61104263 61104263 single base substitution A C intron_variant SKCA-BR 11 61104263 61104263 single base substitution A C upstream_gene_variant SKCA-BR 11 61105568 61105568 single base substitution G T intron_variant SKCA-BR 11 61105568 61105568 single base substitution G T upstream_gene_variant SKCA-BR 11 61111831 61111833 deletion of <=200bp CTT - upstream_gene_variant SKCA-BR 11 61114009 61114028 deletion of <=200bp CTCACTGCTGTGCTGAGGTG - upstream_gene_variant SKCM-US 11 61070583 61070583 single base substitution G A exon_variant SKCM-US 11 61070583 61070583 single base substitution G A synonymous_variant I125I 375C>T SKCM-US 11 61070583 61070583 single base substitution G A synonymous_variant I270I 810C>T SKCM-US 11 61070583 61070583 single base substitution G A synonymous_variant I6I 18C>T SKCM-US 11 61070583 61070583 single base substitution G A synonymous_variant I959I 2877C>T SKCM-US 11 61070583 61070583 single base substitution G A upstream_gene_variant SKCM-US 11 61070607 61070607 single base substitution G A 5_prime_UTR_variant SKCM-US 11 61070607 61070607 single base substitution G A exon_variant SKCM-US 11 61070607 61070607 single base substitution G A synonymous_variant P117P 351C>T SKCM-US 11 61070607 61070607 single base substitution G A synonymous_variant P262P 786C>T SKCM-US 11 61070607 61070607 single base substitution G A synonymous_variant P951P 2853C>T SKCM-US 11 61070607 61070607 single base substitution G A upstream_gene_variant SKCM-US 11 61076533 61076534 deletion of <=200bp CA - downstream_gene_variant SKCM-US 11 61076533 61076534 deletion of <=200bp CA - exon_variant SKCM-US 11 61076533 61076534 deletion of <=200bp CA - frameshift_variant V172 SKCM-US 11 61076533 61076534 deletion of <=200bp CA - frameshift_variant V27 SKCM-US 11 61076533 61076534 deletion of <=200bp CA - frameshift_variant V861 SKCM-US 11 61077377 61077377 single base substitution G A 5_prime_UTR_variant SKCM-US 11 61077377 61077377 single base substitution G A downstream_gene_variant SKCM-US 11 61077377 61077377 single base substitution G A exon_variant SKCM-US 11 61077377 61077377 single base substitution G A synonymous_variant C130C 390C>T SKCM-US 11 61077377 61077377 single base substitution G A synonymous_variant C819C 2457C>T SKCM-US 11 61079480 61079480 single base substitution G A downstream_gene_variant SKCM-US 11 61079480 61079480 single base substitution G A exon_variant SKCM-US 11 61079480 61079480 single base substitution G A intron_variant SKCM-US 11 61079480 61079480 single base substitution G A missense_variant P183S 547C>T SKCM-US 11 61079480 61079480 single base substitution G A missense_variant P716S 2146C>T SKCM-US 11 61079480 61079480 single base substitution G A upstream_gene_variant SKCM-US 11 61079489 61079489 single base substitution G A downstream_gene_variant SKCM-US 11 61079489 61079489 single base substitution G A exon_variant SKCM-US 11 61079489 61079489 single base substitution G A intron_variant SKCM-US 11 61079489 61079489 single base substitution G A missense_variant R180C 538C>T SKCM-US 11 61079489 61079489 single base substitution G A missense_variant R713C 2137C>T SKCM-US 11 61079489 61079489 single base substitution G A upstream_gene_variant SKCM-US 11 61081357 61081357 single base substitution T C downstream_gene_variant SKCM-US 11 61081357 61081357 single base substitution T C exon_variant SKCM-US 11 61081357 61081357 single base substitution T C intron_variant SKCM-US 11 61081357 61081357 single base substitution T C missense_variant Y177C 530A>G SKCM-US 11 61081357 61081357 single base substitution T C missense_variant Y264C 791A>G SKCM-US 11 61081357 61081357 single base substitution T C missense_variant Y613C 1838A>G SKCM-US 11 61081357 61081357 single base substitution T C missense_variant Y80C 239A>G SKCM-US 11 61081357 61081357 single base substitution T C upstream_gene_variant SKCM-US 11 61083814 61083814 single base substitution G A downstream_gene_variant SKCM-US 11 61083814 61083814 single base substitution G A exon_variant SKCM-US 11 61083814 61083814 single base substitution G A intron_variant SKCM-US 11 61083814 61083814 single base substitution G A synonymous_variant F102F 306C>T SKCM-US 11 61083814 61083814 single base substitution G A synonymous_variant F15F 45C>T SKCM-US 11 61083814 61083814 single base substitution G A synonymous_variant F170F 510C>T SKCM-US 11 61083814 61083814 single base substitution G A synonymous_variant F234F 702C>T SKCM-US 11 61083814 61083814 single base substitution G A synonymous_variant F451F 1353C>T SKCM-US 11 61083814 61083814 single base substitution G A upstream_gene_variant SKCM-US 11 61090509 61090509 single base substitution G A downstream_gene_variant SKCM-US 11 61090509 61090509 single base substitution G A exon_variant SKCM-US 11 61090509 61090509 single base substitution G A intron_variant SKCM-US 11 61090509 61090509 single base substitution G A missense_variant R110C 328C>T SKCM-US 11 61090509 61090509 single base substitution G A missense_variant R142C 424C>T SKCM-US 11 61090509 61090509 single base substitution G A missense_variant R327C 979C>T SKCM-US 11 61090509 61090509 single base substitution G A missense_variant R46C 136C>T SKCM-US 11 61090509 61090509 single base substitution G A upstream_gene_variant SKCM-US 11 61091584 61091584 single base substitution C A downstream_gene_variant SKCM-US 11 61091584 61091584 single base substitution C A exon_variant SKCM-US 11 61091584 61091584 single base substitution C A intron_variant SKCM-US 11 61091584 61091584 single base substitution C A missense_variant R263L 788G>T SKCM-US 11 61091584 61091584 single base substitution C A missense_variant R46L 137G>T SKCM-US 11 61091584 61091584 single base substitution C A missense_variant R78L 233G>T SKCM-US 11 61091584 61091584 single base substitution C A upstream_gene_variant SKCM-US 11 61093105 61093105 single base substitution G A downstream_gene_variant SKCM-US 11 61093105 61093105 single base substitution G A exon_variant SKCM-US 11 61093105 61093105 single base substitution G A intron_variant SKCM-US 11 61093105 61093105 single base substitution G A missense_variant A247V 740C>T SKCM-US 11 61093105 61093105 single base substitution G A missense_variant A30V 89C>T SKCM-US 11 61093105 61093105 single base substitution G A missense_variant A62V 185C>T SKCM-US 11 61093105 61093105 single base substitution G A upstream_gene_variant SKCM-US 11 61094298 61094298 single base substitution G A 5_prime_UTR_variant SKCM-US 11 61094298 61094298 single base substitution G A downstream_gene_variant SKCM-US 11 61094298 61094298 single base substitution G A exon_variant SKCM-US 11 61094298 61094298 single base substitution G A intron_variant SKCM-US 11 61094298 61094298 single base substitution G A missense_variant P150L 449C>T SKCM-US 11 61094298 61094298 single base substitution G A missense_variant P206L 617C>T SKCM-US 11 61094298 61094298 single base substitution G A upstream_gene_variant SKCM-US 11 61094299 61094299 single base substitution G A 5_prime_UTR_variant SKCM-US 11 61094299 61094299 single base substitution G A downstream_gene_variant SKCM-US 11 61094299 61094299 single base substitution G A exon_variant SKCM-US 11 61094299 61094299 single base substitution G A intron_variant SKCM-US 11 61094299 61094299 single base substitution G A missense_variant P150S 448C>T SKCM-US 11 61094299 61094299 single base substitution G A missense_variant P206S 616C>T SKCM-US 11 61094299 61094299 single base substitution G A upstream_gene_variant SKCM-US 11 61096997 61096997 single base substitution C T downstream_gene_variant SKCM-US 11 61096997 61096997 single base substitution C T exon_variant SKCM-US 11 61096997 61096997 single base substitution C T intron_variant SKCM-US 11 61096997 61096997 single base substitution C T synonymous_variant R129R 387G>A SKCM-US 11 61096997 61096997 single base substitution C T synonymous_variant R73R 219G>A SKCM-US 11 61096997 61096997 single base substitution C T upstream_gene_variant SKCM-US 11 61105547 61105547 single base substitution G A intron_variant SKCM-US 11 61105547 61105547 single base substitution G A upstream_gene_variant SKCM-US 11 61106612 61106612 single base substitution C T intron_variant SKCM-US 11 61106811 61106811 single base substitution C T intron_variant SKCM-US 11 61110896 61110896 single base substitution C T upstream_gene_variant SKCM-US 11 61113332 61113332 single base substitution G A upstream_gene_variant SKCM-US 11 61113347 61113347 single base substitution G A upstream_gene_variant SKCM-US 11 61113373 61113373 single base substitution G A upstream_gene_variant STAD-US 11 61070097 61070097 deletion of <=200bp G - exon_variant STAD-US 11 61070097 61070097 deletion of <=200bp G - frameshift_variant P10 STAD-US 11 61070097 61070097 deletion of <=200bp G - frameshift_variant P1023 STAD-US 11 61070097 61070097 deletion of <=200bp G - frameshift_variant P189 STAD-US 11 61070097 61070097 deletion of <=200bp G - frameshift_variant P334 STAD-US 11 61070097 61070097 deletion of <=200bp G - frameshift_variant P70 STAD-US 11 61070097 61070097 deletion of <=200bp G - upstream_gene_variant STAD-US 11 61070548 61070548 single base substitution G A exon_variant STAD-US 11 61070548 61070548 single base substitution G A missense_variant A137V 410C>T STAD-US 11 61070548 61070548 single base substitution G A missense_variant A18V 53C>T STAD-US 11 61070548 61070548 single base substitution G A missense_variant A282V 845C>T STAD-US 11 61070548 61070548 single base substitution G A missense_variant A971V 2912C>T STAD-US 11 61070548 61070548 single base substitution G A upstream_gene_variant STAD-US 11 61071387 61071387 single base substitution G A exon_variant STAD-US 11 61071387 61071387 single base substitution G A missense_variant R239C 715C>T STAD-US 11 61071387 61071387 single base substitution G A missense_variant R928C 2782C>T STAD-US 11 61071387 61071387 single base substitution G A missense_variant R94C 280C>T STAD-US 11 61071387 61071387 single base substitution G A upstream_gene_variant STAD-US 11 61071397 61071397 single base substitution G A exon_variant STAD-US 11 61071397 61071397 single base substitution G A synonymous_variant G235G 705C>T STAD-US 11 61071397 61071397 single base substitution G A synonymous_variant G90G 270C>T STAD-US 11 61071397 61071397 single base substitution G A synonymous_variant G924G 2772C>T STAD-US 11 61071397 61071397 single base substitution G A upstream_gene_variant STAD-US 11 61071504 61071504 single base substitution G A exon_variant STAD-US 11 61071504 61071504 single base substitution G A missense_variant R200W 598C>T STAD-US 11 61071504 61071504 single base substitution G A missense_variant R55W 163C>T STAD-US 11 61071504 61071504 single base substitution G A missense_variant R889W 2665C>T STAD-US 11 61071504 61071504 single base substitution G A upstream_gene_variant STAD-US 11 61076454 61076454 single base substitution C T downstream_gene_variant STAD-US 11 61076454 61076454 single base substitution C T splice_donor_variant STAD-US 11 61079287 61079287 single base substitution G A downstream_gene_variant STAD-US 11 61079287 61079287 single base substitution G A exon_variant STAD-US 11 61079287 61079287 single base substitution G A intron_variant STAD-US 11 61079287 61079287 single base substitution G A missense_variant T216M 647C>T STAD-US 11 61079287 61079287 single base substitution G A missense_variant T749M 2246C>T STAD-US 11 61079287 61079287 single base substitution G A upstream_gene_variant STAD-US 11 61079513 61079513 single base substitution C T downstream_gene_variant STAD-US 11 61079513 61079513 single base substitution C T exon_variant STAD-US 11 61079513 61079513 single base substitution C T intron_variant STAD-US 11 61079513 61079513 single base substitution C T missense_variant D172N 514G>A STAD-US 11 61079513 61079513 single base substitution C T missense_variant D705N 2113G>A STAD-US 11 61079513 61079513 single base substitution C T upstream_gene_variant STAD-US 11 61079550 61079550 single base substitution C T downstream_gene_variant STAD-US 11 61079550 61079550 single base substitution C T exon_variant STAD-US 11 61079550 61079550 single base substitution C T intron_variant STAD-US 11 61079550 61079550 single base substitution C T synonymous_variant A159A 477G>A STAD-US 11 61079550 61079550 single base substitution C T synonymous_variant A692A 2076G>A STAD-US 11 61079550 61079550 single base substitution C T upstream_gene_variant STAD-US 11 61081144 61081144 single base substitution G T downstream_gene_variant STAD-US 11 61081144 61081144 single base substitution G T exon_variant STAD-US 11 61081144 61081144 single base substitution G T intron_variant STAD-US 11 61081144 61081144 single base substitution G T synonymous_variant G196G 588C>A STAD-US 11 61081144 61081144 single base substitution G T synonymous_variant G632G 1896C>A STAD-US 11 61081144 61081144 single base substitution G T synonymous_variant G99G 297C>A STAD-US 11 61081144 61081144 single base substitution G T upstream_gene_variant STAD-US 11 61081422 61081422 single base substitution G A downstream_gene_variant STAD-US 11 61081422 61081422 single base substitution G A exon_variant STAD-US 11 61081422 61081422 single base substitution G A intron_variant STAD-US 11 61081422 61081422 single base substitution G A synonymous_variant I155I 465C>T STAD-US 11 61081422 61081422 single base substitution G A synonymous_variant I242I 726C>T STAD-US 11 61081422 61081422 single base substitution G A synonymous_variant I58I 174C>T STAD-US 11 61081422 61081422 single base substitution G A synonymous_variant I591I 1773C>T STAD-US 11 61081422 61081422 single base substitution G A upstream_gene_variant STAD-US 11 61081893 61081893 single base substitution C T 5_prime_UTR_variant STAD-US 11 61081893 61081893 single base substitution C T downstream_gene_variant STAD-US 11 61081893 61081893 single base substitution C T exon_variant STAD-US 11 61081893 61081893 single base substitution C T intron_variant STAD-US 11 61081893 61081893 single base substitution C T synonymous_variant E143E 429G>A STAD-US 11 61081893 61081893 single base substitution C T synonymous_variant E211E 633G>A STAD-US 11 61081893 61081893 single base substitution C T synonymous_variant E492E 1476G>A STAD-US 11 61081893 61081893 single base substitution C T synonymous_variant E56E 168G>A STAD-US 11 61081893 61081893 single base substitution C T upstream_gene_variant STAD-US 11 61089821 61089821 single base substitution C A downstream_gene_variant STAD-US 11 61089821 61089821 single base substitution C A exon_variant STAD-US 11 61089821 61089821 single base substitution C A intron_variant STAD-US 11 61089821 61089821 single base substitution C A stop_gained G140* 418G>T STAD-US 11 61089821 61089821 single base substitution C A stop_gained G172* 514G>T STAD-US 11 61089821 61089821 single base substitution C A stop_gained G357* 1069G>T STAD-US 11 61089821 61089821 single base substitution C A stop_gained G76* 226G>T STAD-US 11 61089821 61089821 single base substitution C A stop_gained G8* 22G>T STAD-US 11 61089821 61089821 single base substitution C A upstream_gene_variant STAD-US 11 61091539 61091539 single base substitution C T downstream_gene_variant STAD-US 11 61091539 61091539 single base substitution C T exon_variant STAD-US 11 61091539 61091539 single base substitution C T intron_variant STAD-US 11 61091539 61091539 single base substitution C T missense_variant G278D 833G>A STAD-US 11 61091539 61091539 single base substitution C T missense_variant G61D 182G>A STAD-US 11 61091539 61091539 single base substitution C T missense_variant G93D 278G>A STAD-US 11 61091539 61091539 single base substitution C T upstream_gene_variant STAD-US 11 61094279 61094279 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 11 61094279 61094279 single base substitution G A downstream_gene_variant STAD-US 11 61094279 61094279 single base substitution G A exon_variant STAD-US 11 61094279 61094279 single base substitution G A intron_variant STAD-US 11 61094279 61094279 single base substitution G A synonymous_variant V156V 468C>T STAD-US 11 61094279 61094279 single base substitution G A synonymous_variant V212V 636C>T STAD-US 11 61094279 61094279 single base substitution G A upstream_gene_variant STAD-US 11 61094323 61094323 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 11 61094323 61094323 single base substitution G A downstream_gene_variant STAD-US 11 61094323 61094323 single base substitution G A exon_variant STAD-US 11 61094323 61094323 single base substitution G A intron_variant STAD-US 11 61094323 61094323 single base substitution G A stop_gained R142* 424C>T STAD-US 11 61094323 61094323 single base substitution G A stop_gained R198* 592C>T STAD-US 11 61094323 61094323 single base substitution G A upstream_gene_variant STAD-US 11 61094348 61094348 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 11 61094348 61094348 single base substitution G A downstream_gene_variant STAD-US 11 61094348 61094348 single base substitution G A exon_variant STAD-US 11 61094348 61094348 single base substitution G A intron_variant STAD-US 11 61094348 61094348 single base substitution G A synonymous_variant H133H 399C>T STAD-US 11 61094348 61094348 single base substitution G A synonymous_variant H189H 567C>T STAD-US 11 61094348 61094348 single base substitution G A upstream_gene_variant STAD-US 11 61097044 61097044 single base substitution G A downstream_gene_variant STAD-US 11 61097044 61097044 single base substitution G A exon_variant STAD-US 11 61097044 61097044 single base substitution G A intron_variant STAD-US 11 61097044 61097044 single base substitution G A missense_variant R114C 340C>T STAD-US 11 61097044 61097044 single base substitution G A missense_variant R58C 172C>T STAD-US 11 61097044 61097044 single base substitution G A upstream_gene_variant STAD-US 11 61097046 61097046 single base substitution C T downstream_gene_variant STAD-US 11 61097046 61097046 single base substitution C T exon_variant STAD-US 11 61097046 61097046 single base substitution C T intron_variant STAD-US 11 61097046 61097046 single base substitution C T missense_variant G113D 338G>A STAD-US 11 61097046 61097046 single base substitution C T missense_variant G57D 170G>A STAD-US 11 61097046 61097046 single base substitution C T upstream_gene_variant STAD-US 11 61099040 61099040 single base substitution G A exon_variant STAD-US 11 61099040 61099040 single base substitution G A missense_variant A62V 185C>T STAD-US 11 61099040 61099040 single base substitution G A missense_variant A6V 17C>T STAD-US 11 61099040 61099040 single base substitution G A upstream_gene_variant STAD-US 11 61106764 61106764 single base substitution C T intron_variant STAD-US 11 61106890 61106890 single base substitution A C intron_variant STAD-US 11 61110054 61110054 single base substitution C T 5_prime_UTR_variant STAD-US 11 61110231 61110231 single base substitution C A upstream_gene_variant STAD-US 11 61110303 61110303 single base substitution C T upstream_gene_variant STAD-US 11 61111397 61111397 single base substitution G A upstream_gene_variant STAD-US 11 61111667 61111667 single base substitution C T upstream_gene_variant STAD-US 11 61112761 61112761 deletion of <=200bp C - upstream_gene_variant STAD-US 11 61113349 61113349 deletion of <=200bp G - upstream_gene_variant STAD-US 11 61113377 61113377 single base substitution C A upstream_gene_variant STAD-US 11 61113877 61113877 single base substitution G A upstream_gene_variant STAD-US 11 61113929 61113929 single base substitution C T upstream_gene_variant UCEC-US 11 61068359 61068359 single base substitution A G downstream_gene_variant UCEC-US 11 61068359 61068359 single base substitution A G exon_variant UCEC-US 11 61068359 61068359 single base substitution A G synonymous_variant G1087G 3261T>C UCEC-US 11 61068359 61068359 single base substitution A G synonymous_variant G134G 402T>C UCEC-US 11 61068359 61068359 single base substitution A G synonymous_variant G398G 1194T>C UCEC-US 11 61068359 61068359 single base substitution A G synonymous_variant G74G 222T>C UCEC-US 11 61069765 61069765 single base substitution T G downstream_gene_variant UCEC-US 11 61069765 61069765 single base substitution T G exon_variant UCEC-US 11 61069765 61069765 single base substitution T G missense_variant K1060T 3179A>C UCEC-US 11 61069765 61069765 single base substitution T G missense_variant K107T 320A>C UCEC-US 11 61069765 61069765 single base substitution T G missense_variant K371T 1112A>C UCEC-US 11 61069765 61069765 single base substitution T G missense_variant K47T 140A>C UCEC-US 11 61069806 61069806 single base substitution G T downstream_gene_variant UCEC-US 11 61069806 61069806 single base substitution G T exon_variant UCEC-US 11 61069806 61069806 single base substitution G T missense_variant S1046R 3138C>A UCEC-US 11 61069806 61069806 single base substitution G T missense_variant S33R 99C>A UCEC-US 11 61069806 61069806 single base substitution G T missense_variant S357R 1071C>A UCEC-US 11 61069806 61069806 single base substitution G T missense_variant S93R 279C>A UCEC-US 11 61070063 61070063 single base substitution C T exon_variant UCEC-US 11 61070063 61070063 single base substitution C T missense_variant G1035S 3103G>A UCEC-US 11 61070063 61070063 single base substitution C T missense_variant G201S 601G>A UCEC-US 11 61070063 61070063 single base substitution C T missense_variant G22S 64G>A UCEC-US 11 61070063 61070063 single base substitution C T missense_variant G346S 1036G>A UCEC-US 11 61070063 61070063 single base substitution C T missense_variant G82S 244G>A UCEC-US 11 61070063 61070063 single base substitution C T upstream_gene_variant UCEC-US 11 61070094 61070094 single base substitution T C exon_variant UCEC-US 11 61070094 61070094 single base substitution T C synonymous_variant T1024T 3072A>G UCEC-US 11 61070094 61070094 single base substitution T C synonymous_variant T11T 33A>G UCEC-US 11 61070094 61070094 single base substitution T C synonymous_variant T190T 570A>G UCEC-US 11 61070094 61070094 single base substitution T C synonymous_variant T335T 1005A>G UCEC-US 11 61070094 61070094 single base substitution T C synonymous_variant T71T 213A>G UCEC-US 11 61070094 61070094 single base substitution T C upstream_gene_variant UCEC-US 11 61070162 61070162 single base substitution C T 5_prime_UTR_variant UCEC-US 11 61070162 61070162 single base substitution C T exon_variant UCEC-US 11 61070162 61070162 single base substitution C T missense_variant E1002K 3004G>A UCEC-US 11 61070162 61070162 single base substitution C T missense_variant E168K 502G>A UCEC-US 11 61070162 61070162 single base substitution C T missense_variant E313K 937G>A UCEC-US 11 61070162 61070162 single base substitution C T missense_variant E49K 145G>A UCEC-US 11 61070162 61070162 single base substitution C T upstream_gene_variant UCEC-US 11 61070621 61070621 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 11 61070621 61070621 single base substitution G A exon_variant UCEC-US 11 61070621 61070621 single base substitution G A stop_gained R113* 337C>T UCEC-US 11 61070621 61070621 single base substitution G A stop_gained R258* 772C>T UCEC-US 11 61070621 61070621 single base substitution G A stop_gained R947* 2839C>T UCEC-US 11 61070621 61070621 single base substitution G A upstream_gene_variant UCEC-US 11 61076507 61076507 single base substitution A G downstream_gene_variant UCEC-US 11 61076507 61076507 single base substitution A G exon_variant UCEC-US 11 61076507 61076507 single base substitution A G missense_variant V181A 542T>C UCEC-US 11 61076507 61076507 single base substitution A G missense_variant V36A 107T>C UCEC-US 11 61076507 61076507 single base substitution A G missense_variant V870A 2609T>C UCEC-US 11 61079299 61079299 single base substitution G A downstream_gene_variant UCEC-US 11 61079299 61079299 single base substitution G A exon_variant UCEC-US 11 61079299 61079299 single base substitution G A intron_variant UCEC-US 11 61079299 61079299 single base substitution G A missense_variant T212M 635C>T UCEC-US 11 61079299 61079299 single base substitution G A missense_variant T745M 2234C>T UCEC-US 11 61079299 61079299 single base substitution G A upstream_gene_variant UCEC-US 11 61079317 61079317 single base substitution C T downstream_gene_variant UCEC-US 11 61079317 61079317 single base substitution C T exon_variant UCEC-US 11 61079317 61079317 single base substitution C T intron_variant UCEC-US 11 61079317 61079317 single base substitution C T missense_variant R206H 617G>A UCEC-US 11 61079317 61079317 single base substitution C T missense_variant R739H 2216G>A UCEC-US 11 61079317 61079317 single base substitution C T upstream_gene_variant UCEC-US 11 61079536 61079536 single base substitution C T downstream_gene_variant UCEC-US 11 61079536 61079536 single base substitution C T exon_variant UCEC-US 11 61079536 61079536 single base substitution C T intron_variant UCEC-US 11 61079536 61079536 single base substitution C T missense_variant S164N 491G>A UCEC-US 11 61079536 61079536 single base substitution C T missense_variant S697N 2090G>A UCEC-US 11 61079536 61079536 single base substitution C T upstream_gene_variant UCEC-US 11 61081794 61081794 single base substitution C A 5_prime_UTR_variant UCEC-US 11 61081794 61081794 single base substitution C A downstream_gene_variant UCEC-US 11 61081794 61081794 single base substitution C A exon_variant UCEC-US 11 61081794 61081794 single base substitution C A intron_variant UCEC-US 11 61081794 61081794 single base substitution C A missense_variant E176D 528G>T UCEC-US 11 61081794 61081794 single base substitution C A missense_variant E244D 732G>T UCEC-US 11 61081794 61081794 single base substitution C A missense_variant E525D 1575G>T UCEC-US 11 61081794 61081794 single base substitution C A missense_variant E89D 267G>T UCEC-US 11 61081794 61081794 single base substitution C A upstream_gene_variant UCEC-US 11 61081956 61081956 single base substitution G T 5_prime_UTR_variant UCEC-US 11 61081956 61081956 single base substitution G T downstream_gene_variant UCEC-US 11 61081956 61081956 single base substitution G T exon_variant UCEC-US 11 61081956 61081956 single base substitution G T intron_variant UCEC-US 11 61081956 61081956 single base substitution G T splice_region_variant UCEC-US 11 61081956 61081956 single base substitution G T upstream_gene_variant UCEC-US 11 61083828 61083828 single base substitution C T downstream_gene_variant UCEC-US 11 61083828 61083828 single base substitution C T exon_variant UCEC-US 11 61083828 61083828 single base substitution C T intron_variant UCEC-US 11 61083828 61083828 single base substitution C T missense_variant E11K 31G>A UCEC-US 11 61083828 61083828 single base substitution C T missense_variant E166K 496G>A UCEC-US 11 61083828 61083828 single base substitution C T missense_variant E230K 688G>A UCEC-US 11 61083828 61083828 single base substitution C T missense_variant E447K 1339G>A UCEC-US 11 61083828 61083828 single base substitution C T missense_variant E98K 292G>A UCEC-US 11 61083828 61083828 single base substitution C T upstream_gene_variant UCEC-US 11 61089135 61089135 single base substitution G T 5_prime_UTR_variant UCEC-US 11 61089135 61089135 single base substitution G T downstream_gene_variant UCEC-US 11 61089135 61089135 single base substitution G T exon_variant UCEC-US 11 61089135 61089135 single base substitution G T intron_variant UCEC-US 11 61089135 61089135 single base substitution G T missense_variant S105Y 314C>A UCEC-US 11 61089135 61089135 single base substitution G T missense_variant S169Y 506C>A UCEC-US 11 61089135 61089135 single base substitution G T missense_variant S37Y 110C>A UCEC-US 11 61089135 61089135 single base substitution G T missense_variant S386Y 1157C>A UCEC-US 11 61094320 61094320 single base substitution C A 5_prime_UTR_variant UCEC-US 11 61094320 61094320 single base substitution C A downstream_gene_variant UCEC-US 11 61094320 61094320 single base substitution C A exon_variant UCEC-US 11 61094320 61094320 single base substitution C A intron_variant UCEC-US 11 61094320 61094320 single base substitution C A stop_gained E143* 427G>T UCEC-US 11 61094320 61094320 single base substitution C A stop_gained E199* 595G>T UCEC-US 11 61094320 61094320 single base substitution C A upstream_gene_variant UCEC-US 11 61094352 61094352 single base substitution C T 5_prime_UTR_variant UCEC-US 11 61094352 61094352 single base substitution C T downstream_gene_variant UCEC-US 11 61094352 61094352 single base substitution C T exon_variant UCEC-US 11 61094352 61094352 single base substitution C T intron_variant UCEC-US 11 61094352 61094352 single base substitution C T missense_variant R132Q 395G>A UCEC-US 11 61094352 61094352 single base substitution C T missense_variant R188Q 563G>A UCEC-US 11 61094352 61094352 single base substitution C T upstream_gene_variant UCEC-US 11 61096905 61096905 single base substitution T A downstream_gene_variant UCEC-US 11 61096905 61096905 single base substitution T A exon_variant UCEC-US 11 61096905 61096905 single base substitution T A intron_variant UCEC-US 11 61096905 61096905 single base substitution T A missense_variant E104V 311A>T UCEC-US 11 61096905 61096905 single base substitution T A missense_variant E160V 479A>T UCEC-US 11 61096905 61096905 single base substitution T A upstream_gene_variant UCEC-US 11 61096944 61096944 single base substitution C T downstream_gene_variant UCEC-US 11 61096944 61096944 single base substitution C T exon_variant UCEC-US 11 61096944 61096944 single base substitution C T intron_variant UCEC-US 11 61096944 61096944 single base substitution C T missense_variant R147H 440G>A UCEC-US 11 61096944 61096944 single base substitution C T missense_variant R91H 272G>A UCEC-US 11 61096944 61096944 single base substitution C T upstream_gene_variant UCEC-US 11 61106612 61106612 single base substitution C A intron_variant UCEC-US 11 61109940 61109940 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 11 61110107 61110107 single base substitution C T upstream_gene_variant UCEC-US 11 61110818 61110818 single base substitution C T upstream_gene_variant UCEC-US 11 61111618 61111618 single base substitution G A upstream_gene_variant UCEC-US 11 61113017 61113017 single base substitution C T upstream_gene_variant UCEC-US 11 61113950 61113950 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-04-1338-01 COSM77568 c.2162C>T p.P721L Substitution - Missense 11:61311992-61311992 - TCGA-AX-A0J0-01 COSM929432 c.1413C>A p.I471I Substitution - coding silent 11:61314484-61314484 - 2250168 COSM5030655 c.861delG p.E288fs*15 Deletion - Frameshift 11:61324039-61324039 - TCGA-BR-4368-01 COSM1717503 c.567C>T p.H189H Substitution - coding silent 11:61326876-61326876 - RK308_C01 COSM929436 c.563G>A p.R188Q Substitution - Missense 11:61326880-61326880 - YUGATOR COSM4486660 c.3087C>T p.L1029L Substitution - coding silent 11:61302607-61302607 - cSCCP7 COSM139900 c.1573G>A p.E525K Substitution - Missense 11:61314324-61314324 - BK0043 COSM4187512 c.542T>C p.V181A Substitution - Missense 11:61329370-61329370 - TCGA-85-6561-01 COSM689330 c.2839C>A p.R947R Substitution - coding silent 11:61303149-61303149 - LUAD-S01357 COSM386431 c.2632G>C p.G878R Substitution - Missense 11:61309012-61309012 - CSCC-40-T COSM4516942 c.2547_2548GG>AA p.V850I Substitution - Missense 11:61309814-61309815 - pfg019T COSM1638897 c.762+6C>T p.? Unknown 11:61325605-61325605 - TCGA-22-4613-01 COSM689329 c.2664G>A p.V888V Substitution - coding silent 11:61304033-61304033 - CCK81 COSM2037310 c.2632G>A p.G878R Substitution - Missense 11:61309012-61309012 - PD4192a COSM3355832 c.2193G>C p.Q731H Substitution - Missense 11:61311868-61311868 - B59-3 COSM1746374 c.1596A>G p.T532T Substitution - coding silent 11:61314204-61314204 - TCGA-HU-A4GT-01 COSM4034589 c.185C>T p.A62V Substitution - Missense 11:61331568-61331568 - TCGA-66-2771-01 COSM689331 c.2871G>T p.V957V Substitution - coding silent 11:61303117-61303117 - tumor_4124542 COSM5947205 c.902G>A p.R301H Substitution - Missense 11:61323998-61323998 - TCGA-D8-A1X5-01 COSM1475620 c.564G>A p.R188R Substitution - coding silent 11:61326879-61326879 - 2334195 COSM319832 c.2498C>T p.T833I Substitution - Missense 11:61309864-61309864 - TCGA-BS-A0UV-01 COSM929426 c.2839C>T p.R947* Substitution - Nonsense 11:61303149-61303149 - MedB-1 COSM5620633 c.500T>C p.V167A Substitution - Missense 11:61329412-61329412 - TCGA-BR-4370-01 COSM2037345 c.592C>T p.R198* Substitution - Nonsense 11:61326851-61326851 - SC_9010 COSM5555807 c.1820G>T p.G607V Substitution - Missense 11:61313903-61313903 - CHC1137T COSM4803129 c.898C>A p.L300I Substitution - Missense 11:61324002-61324002 - 52T COSM3710366 c.1963C>T p.R655C Substitution - Missense 11:61313605-61313605 - TCGA-D3-A2JH-06 COSM3450685 c.2137C>T p.R713C Substitution - Missense 11:61312017-61312017 - LAU618 COSM232140 c.2342C>T p.S781F Substitution - Missense 11:61310354-61310354 - PD4192a COSM3355832 c.2193G>C p.Q731H Substitution - Missense 11:61311868-61311868 - TCGA-39-5030-01 COSM689333 c.3413G>A p.R1138Q Substitution - Missense 11:61300146-61300146 - TCGA-A4-7996-01 COSM3986282 c.1503C>T p.A501A Substitution - coding silent 11:61314394-61314394 - TCGA-EE-A29G-06 COSM3450686 c.1838A>G p.Y613C Substitution - Missense 11:61313885-61313885 - TCGA-AC-A23H-01 COSM3809739 c.1723G>A p.E575K Substitution - Missense 11:61314077-61314077 - TCGA-D3-A5GT-01 COSM3450683 c.2457C>T p.C819C Substitution - coding silent 11:61309905-61309905 - TCGA-CZ-5462-01 COSM467089 c.1640G>A p.G547E Substitution - Missense 11:61314160-61314160 - TCGA-A6-5661-01 COSM1355217 c.685delG p.A229fs*74 Deletion - Frameshift 11:61325688-61325688 - TCGA-AA-A01Q-01 COSM300045 c.292A>G p.I98V Substitution - Missense 11:61329993-61329993 - OSCC-GB_00520111 COSM3710366 c.1963C>T p.R655C Substitution - Missense 11:61313605-61313605 - TCGA-C8-A12K-01 COSM5220412 c.3238_3239delCG p.R1080fs*12 Deletion - Frameshift 11:61300909-61300910 - TCGA-A6-6780-01 COSM1355218 c.568G>A p.V190I Substitution - Missense 11:61326875-61326875 - TCGA-EE-A2MG-06 COSM3450690 c.617C>T p.P206L Substitution - Missense 11:61326826-61326826 - TCGA-BH-A0DS-01 COSM1355216 c.685_686insG p.A229fs*15 Insertion - Frameshift 11:61325687-61325688 - LUAD-CHTN-MAD08-00104 COSM169713 c.3004G>A p.E1002K Substitution - Missense 11:61302690-61302690 - Pfieffer COSM1582023 c.1365_1368delGCAG p.Q456fs*20 Deletion - Frameshift 11:61316327-61316330 - TCGA-A7-A0CH-01 COSM1355216 c.685_686insG p.A229fs*15 Insertion - Frameshift 11:61325687-61325688 - TCGA-IR-A3LK-01 COSM4817035 c.547C>T p.Q183* Substitution - Nonsense 11:61329365-61329365 - tumor_4176133 COSM3356217 c.2762T>G p.I921S Substitution - Missense 11:61303935-61303935 - BD135T COSM5516919 c.684_685insG p.A229fs*15 Insertion - Frameshift 11:61325688-61325689 - B81-2-Tumor COSM1746373 c.2437G>A p.A813T Substitution - Missense 11:61309925-61309925 - ccRCC-12 COSM1661403 c.2256G>C p.L752F Substitution - Missense 11:61311805-61311805 - 2521259 COSM4476100 c.2041C>T p.P681S Substitution - Missense 11:61313527-61313527 - TCGA-CD-8536-01 COSM4034586 c.833G>A p.G278D Substitution - Missense 11:61324067-61324067 - TCGA-FS-A1Z0-06 COSM3450687 c.1353C>T p.F451F Substitution - coding silent 11:61316342-61316342 - CRC-10T COSM5457660 c.664+10G>A p.? Unknown 11:61326769-61326769 - TCGA-DD-A119-01 COSM4919926 c.232T>C p.F78L Substitution - Missense 11:61330053-61330053 - NB-1110 COSM1284431 c.2175C>A p.C725* Substitution - Nonsense 11:61311886-61311886 - DLBCL816 COSM1580766 c.1571A>G p.Q524R Substitution - Missense 11:61314326-61314326 - RW7213 COSM4649847 c.1945G>A p.V649I Substitution - Missense 11:61313623-61313623 - TCGA-C5-A7X3-01 COSM4842908 c.2833-1G>A p.? Unknown 11:61303156-61303156 - TCGA-AR-A0TX-01 COSM429399 c.148C>T p.R50W Substitution - Missense 11:61331605-61331605 - TCGA-BR-8487-01 COSM4034574 c.2912C>T p.A971V Substitution - Missense 11:61303076-61303076 - MOLT-4 COSM1676080 c.661G>A p.A221T Substitution - Missense 11:61326782-61326782 - 1N47-VS-1T47 COSM4976204 c.1822G>C p.D608H Substitution - Missense 11:61313901-61313901 - CSCC-7-T COSM4486660 c.3087C>T p.L1029L Substitution - coding silent 11:61302607-61302607 - 3206A7_009_T COSM5039026 c.1603G>T p.E535* Substitution - Nonsense 11:61314197-61314197 - TCGA-CD-A4MG-01 COSM4034585 c.1069G>T p.G357* Substitution - Nonsense 11:61322349-61322349 - KYSE-510 COSM2037298 c.3062C>A p.S1021Y Substitution - Missense 11:61302632-61302632 - C91 COSM929433 c.1339G>A p.E447K Substitution - Missense 11:61316356-61316356 - TCGA-AO-A128-01 COSM1355217 c.685delG p.A229fs*74 Deletion - Frameshift 11:61325688-61325688 - C086 COSM5529620 c.1506C>T p.S502S Substitution - coding silent 11:61314391-61314391 - MedB-1 COSM5620632 c.2773G>A p.D925N Substitution - Missense 11:61303924-61303924 - S0051 COSM5882097 c.3037G>A p.V1013I Substitution - Missense 11:61302657-61302657 - Pat_05_A COSM5838962 c.3238C>T p.R1080W Substitution - Missense 11:61300910-61300910 - C135 COSM2037300 c.3003C>T p.G1001G Substitution - coding silent 11:61302691-61302691 - T3091 COSM4676654 c.3412C>T p.R1138W Substitution - Missense 11:61300147-61300147 - TCGA-B6-A0RO-01 COSM429396 c.725G>A p.G242D Substitution - Missense 11:61325648-61325648 - CRC-10T COSM2037353 c.472C>T p.R158C Substitution - Missense 11:61329440-61329440 - 2521249 COSM232140 c.2342C>T p.S781F Substitution - Missense 11:61310354-61310354 - HCC2998 COSM2037338 c.1012G>A p.V338I Substitution - Missense 11:61322406-61322406 - TCGA-BR-6452-01 COSM4034581 c.2076G>A p.A692A Substitution - coding silent 11:61312078-61312078 - STC252 COSM5050944 c.2204T>C p.V735A Substitution - Missense 11:61311857-61311857 - ESO-0025 COSM1249841 c.922A>T p.T308S Substitution - Missense 11:61323094-61323094 - EGC15 COSM1704113 c.2540G>A p.R847H Substitution - Missense 11:61309822-61309822 - TCGA-06-1804-01 COSM2152473 c.2127G>C p.K709N Substitution - Missense 11:61312027-61312027 - TCGA-BR-8363-01 COSM4034584 c.1476G>A p.E492E Substitution - coding silent 11:61314421-61314421 - PT41 COSM5924532 c.2147C>T p.P716L Substitution - Missense 11:61312007-61312007 - TCGA-EE-A3JD-06 COSM4395570 c.2853C>T p.P951P Substitution - coding silent 11:61303135-61303135 - CHC1137T COSM4803129 c.898C>A p.L300I Substitution - Missense 11:61324002-61324002 - TCGA-FP-7829-01 COSM4034582 c.1896C>A p.G632G Substitution - coding silent 11:61313672-61313672 - TCGA-AP-A0LM-01 COSM929434 c.1157C>A p.S386Y Substitution - Missense 11:61321663-61321663 - J32_T COSM5762380 c.898C>G p.L300V Substitution - Missense 11:61324002-61324002 - MAVER-1 COSM1739789 c.1595C>A p.T532K Substitution - Missense 11:61314205-61314205 - 587332 COSM1203183 c.2953A>G p.T985A Substitution - Missense 11:61302741-61302741 - KM12 COSM4638826 c.19G>A p.V7I Substitution - Missense 11:61332950-61332950 - GC8_T COSM147258 c.762+7G>A p.? Unknown 11:61325604-61325604 - 12586 COSM5613429 c.871A>G p.M291V Substitution - Missense 11:61324029-61324029 - SJRHB011 COSM4776290 c.3201G>T p.K1067N Substitution - Missense 11:61302271-61302271 - TCGA-D1-A103-01 COSM929436 c.563G>A p.R188Q Substitution - Missense 11:61326880-61326880 - CSCC-41-T COSM4486660 c.3087C>T p.L1029L Substitution - coding silent 11:61302607-61302607 - TCGA-AZ-4315-01 COSM1355219 c.123C>T p.I41I Substitution - coding silent 11:61331630-61331630 - HCA46 COSM4629269 c.1977C>G p.I659M Substitution - Missense 11:61313591-61313591 - DLBCL689 COSM1580765 c.1772T>C p.I591T Substitution - Missense 11:61313951-61313951 - TCGA-BP-4349-01 COSM3359266 c.295G>A p.D99N Substitution - Missense 11:61329990-61329990 - S01873 COSM5672040 c.1452A>G p.K484K Substitution - coding silent 11:61314445-61314445 - PD24212a COSM5798286 c.1754-1G>C p.? Unknown 11:61313970-61313970 - C086 COSM5529619 c.1718C>T p.S573F Substitution - Missense 11:61314082-61314082 - CSCC-27-T COSM4486535 c.3067C>T p.P1023S Substitution - Missense 11:61302627-61302627 - ESCC_BICR_013T COSM5439245 c.3138C>T p.S1046S Substitution - coding silent 11:61302334-61302334 - CSCC-27-T COSM4476100 c.2041C>T p.P681S Substitution - Missense 11:61313527-61313527 - S02299 COSM5690067 c.2272A>T p.T758S Substitution - Missense 11:61311789-61311789 - 3608_T COSM3953548 c.171G>T p.M57I Substitution - Missense 11:61331582-61331582 - TCGA-AP-A059-01 COSM929431 c.1575G>T p.E525D Substitution - Missense 11:61314322-61314322 - TCGA-D1-A103-01 COSM929424 c.3103G>A p.G1035S Substitution - Missense 11:61302591-61302591 - WA48 COSM239533 c.1881G>C p.K627N Substitution - Missense 11:61313687-61313687 - SNU-C2B COSM2037351 c.526C>T p.P176S Substitution - Missense 11:61329386-61329386 - TCGA-AP-A051-01 COSM929423 c.3138C>A p.S1046R Substitution - Missense 11:61302334-61302334 - CSCC-27-T COSM4567350 c.674_675CC>TT p.P225L Substitution - Missense 11:61325698-61325699 - PCSI_0090_Pa_X COSM3376013 c.256G>A p.A86T Substitution - Missense 11:61330029-61330029 - TCGA-QB-A6FS-06 COSM3869702 c.616C>T p.P206S Substitution - Missense 11:61326827-61326827 - TCGA-EE-A3JI-06 COSM3450691 c.387G>A p.R129R Substitution - coding silent 11:61329525-61329525 - TCGA-A6-5665-01 COSM1355216 c.685_686insG p.A229fs*15 Insertion - Frameshift 11:61325687-61325688 - TCGA-B5-A0JY-01 COSM929435 c.595G>T p.E199* Substitution - Nonsense 11:61326848-61326848 - pfg122T COSM1355217 c.685delG p.A229fs*74 Deletion - Frameshift 11:61325688-61325688 - TCGA-HU-A4GC-01 COSM4034587 c.636C>T p.V212V Substitution - coding silent 11:61326807-61326807 - CSCC-40-T COSM4450330 c.550-3delC p.? Unknown 11:61326896-61326896 - TCGA-UB-A7MB-01 COSM4931849 c.892A>T p.K298* Substitution - Nonsense 11:61324008-61324008 - TCGA-13-1404-01 COSM1322314 c.2277_2277+1GG>TT p.? Unknown 11:61311783-61311784 - PCSI_0090_Pa_P COSM3376013 c.256G>A p.A86T Substitution - Missense 11:61330029-61330029 - 61 COSM5739265 c.2645C>T p.A882V Substitution - Missense 11:61308999-61308999 - 587278 COSM689333 c.3413G>A p.R1138Q Substitution - Missense 11:61300146-61300146 - Case3a COSM1717503 c.567C>T p.H189H Substitution - coding silent 11:61326876-61326876 - TARGET-30-PALJPX-01A-01W COSM1284431 c.2175C>A p.C725* Substitution - Nonsense 11:61311886-61311886 - T39 COSM5341637 c.136G>A p.A46T Substitution - Missense 11:61331617-61331617 - TCGA-HF-7132-01 COSM4034575 c.2782C>T p.R928C Substitution - Missense 11:61303915-61303915 - TCGA-25-1627-01 COSM77569 c.1603G>C p.E535Q Substitution - Missense 11:61314197-61314197 - TCGA-BR-6452-01 COSM4034583 c.1773C>T p.I591I Substitution - coding silent 11:61313950-61313950 - cSCCP4 COSM138822 c.1250C>T p.P417L Substitution - Missense 11:61316543-61316543 - 16 COSM3735419 c.3308C>T p.P1103L Substitution - Missense 11:61300840-61300840 - 2290929 COSM4440275 c.1162C>T p.R388W Substitution - Missense 11:61321658-61321658 - MO_1013 COSM5550625 c.246G>A p.A82A Substitution - coding silent 11:61330039-61330039 - TCGA-BR-4357-01 COSM2037357 c.340C>T p.R114C Substitution - Missense 11:61329572-61329572 - B59-3-Tumor COSM1746374 c.1596A>G p.T532T Substitution - coding silent 11:61314204-61314204 - TCGA-B5-A11N-01 COSM929422 c.3179A>C p.K1060T Substitution - Missense 11:61302293-61302293 - PD4202a COSM160363 c.1034C>G p.S345C Substitution - Missense 11:61322384-61322384 - CSCC-27-T COSM4501470 c.589C>T p.L197F Substitution - Missense 11:61326854-61326854 - TCGA-BG-A0LX-01 COSM929427 c.2609T>C p.V870A Substitution - Missense 11:61309035-61309035 - TCGA-D1-A15X-01 COSM929436 c.563G>A p.R188Q Substitution - Missense 11:61326880-61326880 - TCGA-B5-A0JR-01 COSM929428 c.2234C>T p.T745M Substitution - Missense 11:61311827-61311827 - TCGA-E9-A22G-01 COSM1475619 c.2722A>C p.N908H Substitution - Missense 11:61303975-61303975 - ESO-1060 COSM1249842 c.1275G>C p.L425F Substitution - Missense 11:61316518-61316518 - Pat_65_A COSM5838963 c.2755G>A p.D919N Substitution - Missense 11:61303942-61303942 - TCGA-HU-8604-01 COSM4034579 c.2246C>T p.T749M Substitution - Missense 11:61311815-61311815 - HN_63080 COSM122530 c.3201G>C p.K1067N Substitution - Missense 11:61302271-61302271 - TCGA-AP-A051-01 COSM929438 c.440G>A p.R147H Substitution - Missense 11:61329472-61329472 - Br27P COSM40011 c.384C>T p.C128C Substitution - coding silent 11:61329528-61329528 - YUKLAB COSM1704113 c.2540G>A p.R847H Substitution - Missense 11:61309822-61309822 - HCA7 COSM4629778 c.2206C>A p.L736I Substitution - Missense 11:61311855-61311855 - TCGA-22-5471-01 COSM689328 c.1968C>A p.P656P Substitution - coding silent 11:61313600-61313600 - TCGA-EE-A181-06 COSM3450689 c.740C>T p.A247V Substitution - Missense 11:61325633-61325633 - AOCS-152-1-X COSM3980480 c.677T>C p.F226S Substitution - Missense 11:61325696-61325696 - YUDARE COSM1704115 c.979C>T p.R327C Substitution - Missense 11:61323037-61323037 - 587332 COSM1203184 c.773T>C p.I258T Substitution - Missense 11:61324127-61324127 - TCGA-B5-A11E-01 COSM929421 c.3261T>C p.G1087G Substitution - coding silent 11:61300887-61300887 - CSCC-45-T COSM4474491 c.1924C>T p.R642C Substitution - Missense 11:61313644-61313644 - TCGA-DK-A1AC-01 COSM1298280 c.3343G>A p.D1115N Substitution - Missense 11:61300216-61300216 - TCGA-AP-A059-01 COSM929437 c.479A>T p.E160V Substitution - Missense 11:61329433-61329433 - DLBCL813 COSM1580766 c.1571A>G p.Q524R Substitution - Missense 11:61314326-61314326 - TCGA-AY-6197-01 COSM1355208 c.3096G>A p.T1032T Substitution - coding silent 11:61302598-61302598 - TCGA-F4-6856-01 COSM4450330 c.550-3delC p.? Unknown 11:61326896-61326896 - PD9591a COSM5772517 c.1700G>A p.R567H Substitution - Missense 11:61314100-61314100 - YUWIA COSM5372994 c.471C>T p.I157I Substitution - coding silent 11:61329441-61329441 - TCGA-EB-A3Y7-01 COSM3450684 c.2146C>T p.P716S Substitution - Missense 11:61312008-61312008 - 1517_PT COSM1355217 c.685delG p.A229fs*74 Deletion - Frameshift 11:61325688-61325688 - PT35 COSM3450684 c.2146C>T p.P716S Substitution - Missense 11:61312008-61312008 - TCGA-AD-6964-01 COSM1355215 c.1420G>A p.A474T Substitution - Missense 11:61314477-61314477 - CSCC-31-T COSM4445765 c.211-3C>T p.? Unknown 11:61330077-61330077 - 431 COSM4433391 c.284G>A p.G95D Substitution - Missense 11:61330001-61330001 - TCGA-BP-5192-01 COSM467087 c.3039A>G p.V1013V Substitution - coding silent 11:61302655-61302655 - TCGA-66-2734-01 COSM689327 c.1408C>A p.Q470K Substitution - Missense 11:61316287-61316287 - QC2-34-T2 COSM5654880 c.2931T>C p.C977C Substitution - coding silent 11:61303057-61303057 - TCGA-D3-A2JO-06 COSM3450688 c.788G>T p.R263L Substitution - Missense 11:61324112-61324112 - RK118_C01 COSM3700106 c.629A>T p.E210V Substitution - Missense 11:61326814-61326814 - PD10060a COSM3719074 c.556C>T p.Q186* Substitution - Nonsense 11:61326887-61326887 - NPC16F COSM4995010 c.2515G>T p.E839* Substitution - Nonsense 11:61309847-61309847 - BK0026 COSM4186554 c.754A>C p.I252L Substitution - Missense 11:61325619-61325619 - TCGA-BR-6852-01 COSM4034588 c.338G>A p.G113D Substitution - Missense 11:61329574-61329574 - Gp2D COSM4626863 c.769A>G p.T257A Substitution - Missense 11:61324131-61324131 - TCGA-CZ-5462-01 COSM467088 c.1641A>T p.G547G Substitution - coding silent 11:61314159-61314159 - T3658 COSM4676655 c.881C>T p.T294I Substitution - Missense 11:61324019-61324019 - 18 COSM5745120 c.200_201insT p.R68fs*25 Insertion - Frameshift 11:61331552-61331553 - TCGA-EI-6917-01 COSM172462 c.1080C>T p.V360V Substitution - coding silent 11:61322338-61322338 - ESCC_BICR_052T COSM5434628 c.499G>A p.V167I Substitution - Missense 11:61329413-61329413 - PD4192a COSM3355832 c.2193G>C p.Q731H Substitution - Missense 11:61311868-61311868 - TCGA-BR-7851-01 COSM4034580 c.2113G>A p.D705N Substitution - Missense 11:61312041-61312041 - TCGA-EI-6882-01 COSM3416055 c.618T>C p.P206P Substitution - coding silent 11:61326825-61326825 - PCSI_0112_Pa_P COSM3375873 c.2215C>T p.R739C Substitution - Missense 11:61311846-61311846 - TCGA-CD-8534-01 COSM4034578 c.2661+1G>A p.? Unknown 11:61308982-61308982 - TCGA-BS-A0UV-01 COSM169713 c.3004G>A p.E1002K Substitution - Missense 11:61302690-61302690 - T3225 COSM2037288 c.3365G>A p.R1122Q Substitution - Missense 11:61300194-61300194 - TCGA-AP-A056-01 COSM929433 c.1339G>A p.E447K Substitution - Missense 11:61316356-61316356 - YURTHE COSM1704114 c.1694C>T p.S565L Substitution - Missense 11:61314106-61314106 - TCGA-AP-A056-01 COSM929429 c.2216G>A p.R739H Substitution - Missense 11:61311845-61311845 - TCGA-CD-5800-01 COSM4034577 c.2665C>T p.R889W Substitution - Missense 11:61304032-61304032 - TCGA-66-2782-01 COSM689332 c.3393G>T p.K1131N Substitution - Missense 11:61300166-61300166 - TCGA-BT-A3PJ-01 COSM3791661 c.74C>T p.S25L Substitution - Missense 11:61331679-61331679 - AOCS-120-3-6 COSM3980479 c.2128C>G p.L710V Substitution - Missense 11:61312026-61312026 - TCGA-B6-A0IQ-01 COSM429395 c.3268G>A p.D1090N Substitution - Missense 11:61300880-61300880 - CSCC-31-T COSM4569250 c.1618T>G p.C540G Substitution - Missense 11:61314182-61314182 - TCGA-AK-3431-01 COSM3359265 c.1891T>G p.L631V Substitution - Missense 11:61313677-61313677 - TCGA-BR-6802-01 COSM4034576 c.2772C>T p.G924G Substitution - coding silent 11:61303925-61303925 - TCGA-AX-A0J1-01 COSM929425 c.3072A>G p.T1024T Substitution - coding silent 11:61302622-61302622 - TCGA-AA-3949-01 COSM296905 c.332G>A p.R111H Substitution - Missense 11:61329580-61329580 - HN_62602 COSM127785 c.420C>T p.F140F Substitution - coding silent 11:61329492-61329492 - GC_319T-GC_319N COSM4772261 c.234T>C p.F78F Substitution - coding silent 11:61330051-61330051 - B81-2 COSM1746373 c.2437G>A p.A813T Substitution - Missense 11:61309925-61309925 - 103515 COSM94122 c.679G>C p.G227R Substitution - Missense 11:61325694-61325694 - TCGA-B5-A11E-01 COSM929430 c.2090G>A p.S697N Substitution - Missense 11:61312064-61312064 - TCGA-BH-A18G-01 COSM3710366 c.1963C>T p.R655C Substitution - Missense 11:61313605-61313605 - TCGA-EE-A29L-06 COSM3450682 c.2877C>T p.I959I Substitution - coding silent 11:61303111-61303111 - 08-P1004 COSM4574554 c.882C>T p.T294T Substitution - coding silent 11:61324018-61324018 - TCGA-06-1804 COSM2152473 c.2127G>C p.K709N Substitution - Missense 11:61312027-61312027 - TCGA-DA-A1I2-06 COSM1704115 c.979C>T p.R327C Substitution - Missense 11:61323037-61323037 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.290609;Hs.290611;Hs.290758 11q12-q13 600045 1531201|dbSNP|BC011686|A/G|non-coding||4112|Validated; 1531201|dbSNP|BC050530|A/G|non-coding||4176|Validated; 1531201|dbSNP|BC051764|A/G|non-coding||4166|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AACACA IntronicInsertion . c.2277+479_2277+480insGTGTTT 11 61078777 CLL A C Missense p.L631V c.1891T>G 11 61081149 RCCC A - Frameshift p.R589Afs*4 c.1764delT 11 61081431 LUAD A G Missense p.V870A c.2609T>C 11 61076507 UCEC A G Synonymous p.L974L c.2920T>C 11 61070540 STAD CA - Frameshift p.V861Gfs*2 c.2582_2583delTG 11 61076533 CM C A Missense p.G409V c.1226G>T 11 61084039 LUAD C A Missense p.K1131N c.3393G>T 11 61067638 LUSC C A Missense p.R263L c.788G>T 11 61091584 CM C A Nonsense p.E288* c.862G>T 11 61091510 STAD C A Nonsense p.E420* c.1258G>T 11 61084007 LUAD C A Synonymous p.V957V c.2871G>T 11 61070589 LUSC CC AA SpliceDonorBlockSubstitution . c.2277_2277+1delinsTT 11 61079255 OV C G Missense p.E535Q c.1603G>C 11 61081669 OV C G Missense p.K1067N c.3201G>C 11 61069743 HNSC C G Missense p.K709N c.2127G>C 11 61079499 GBM C G Missense p.L425F c.1275G>C 11 61083990 ESCA C T Missense p.D1090N c.3268G>A 11 61068352 BRCA C T Missense p.D685N c.2053G>A 11 61080987 HNSC C T Missense p.D99N c.295G>A 11 61097462 RCCC C T Missense p.E1019K c.3055G>A 11 61070111 BRCA C T Missense p.E1123K c.3367G>A 11 61067664 BRCA C T Missense p.G113D c.338G>A 11 61097046 STAD C T Missense p.G242D c.725G>A 11 61093120 BRCA C T Missense p.G547E c.1640G>A 11 61081632 RCCC C T Missense p.G832S c.2494G>A 11 61077340 LUAD C T Missense p.R1138Q c.3413G>A 11 61067618 LUSC C T Nonsense p.W411* c.1233G>A 11 61084032 HNSC C T Synonymous p.C128C c.384C>T 11 61097000 GBM C T Synonymous p.R1080R c.3240G>A 11 61068380 BRCA C T Synonymous p.R129R c.387G>A 11 61096997 CM C T Synonymous p.R188R c.564G>A 11 61094351 BRCA C T Synonymous p.V888V c.2664G>A 11 61071505 LUSC G A IntronicSNV . c.3112+29C>T 11 61070025 NSCLC G A IntronicSNV . c.3215+5C>T 11 61069724 CM G A IntronicSNV . c.550-9C>T 11 61094374 CM G A IntronicSNV . c.762+6C>T 11 61093077 STAD G A Missense p.A247V c.740C>T 11 61093105 CM G A Missense p.L427F c.1279C>T 11 61083986 STAD G A Missense p.P206L c.617C>T 11 61094298 CM G A Missense p.P721L c.2162C>T 11 61079464 OV G A Missense p.R114C c.340C>T 11 61097044 STAD G A Missense p.R327C c.979C>T 11 61090509 CM G A Missense p.R327C c.979C>T 11 61090509 HNSC G A Missense p.R388W c.1162C>T 11 61089130 HNSC G A Missense p.R642C c.1924C>T 11 61081116 CM G A Missense p.R713C c.2137C>T 11 61079489 CM G A Missense p.R889W c.2665C>T 11 61071504 STAD G A Missense p.S196F c.587C>T 11 61094328 CM G A Missense p.S25L c.74C>T 11 61099151 BLCA G A Missense p.S386F c.1157C>T 11 61089135 CM G A Missense p.T1022I c.3065C>T 11 61070101 HNSC G A Missense p.T745M c.2234C>T 11 61079299 HNSC G A Missense p.T745M c.2234C>T 11 61079299 UCEC G A Missense p.T833I c.2498C>T 11 61077336 SCLC G A Nonsense p.R198* c.592C>T 11 61094323 STAD G A Nonsense p.R263* c.787C>T 11 61091585 CM G A Synonymous p.F140F c.420C>T 11 61096964 HNSC G A Synonymous p.F451F c.1353C>T 11 61083814 CM G A Synonymous p.G924G c.2772C>T 11 61071397 STAD G A Synonymous p.H189H c.567C>T 11 61094348 STAD G A Synonymous p.I959I c.2877C>T 11 61070583 CM G A Synonymous p.L304L c.912C>T 11 61091460 CM G A Synonymous p.P951P c.2853C>T 11 61070607 CM G C Missense p.S345C c.1034C>G 11 61089856 BRCA G C Synonymous p.L297L c.891C>G 11 61091481 LUAD G T Missense p.Q470K c.1408C>A 11 61083759 LUSC G T Nonsense p.C725* c.2175C>A 11 61079358 NB G T Synonymous p.I123I c.369C>A 11 61097015 HNSC G T Synonymous p.P656P c.1968C>A 11 61081072 LUSC G T Synonymous p.R947R c.2839C>A 11 61070621 LUSC G T Synonymous p.S762S c.2286C>A 11 61077882 CM - TAAA IntronicInsertion . c.2070-235_2070-234insTTAT 11 61079791 CLL T A Missense p.T308S c.922A>T 11 61090566 ESCA T A Synonymous p.G547G c.1641A>T 11 61081631 RCCC T A Synonymous p.R198R c.594A>T 11 61094321 HNSC T C Missense p.I178V c.532A>G 11 61096852 LUAD T C Missense p.M291V c.871A>G 11 61091501 NSCLC T C Missense p.Y613C c.1838A>G 11 61081357 CM T C Synonymous p.E811E c.2433A>G 11 61077401 LUAD T C Synonymous p.V1013V c.3039A>G 11 61070127 RCCC T G Missense p.N36T c.107A>C 11 61099118 LUAD T G Missense p.N908H c.2722A>C 11 61071447 BRCA