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 2 27560194 27560194 + Nonsense_Mutation SNP G G C TCGA-OR-A5KT-01A-11D-A29I-10 TCGA-OR-A5KT-10A-01D-A29L-10 g.chr2:27560194G>C c.1044C>G c.(1042-1044)taC>taG p.Y348* BLCA 2 27550106 27550106 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr2:27550106G>T c.2455C>A c.(2455-2457)Cag>Aag p.Q819K BLCA 2 27551030 27551030 + Silent SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 g.chr2:27551030C>T c.2283G>A c.(2281-2283)ccG>ccA p.P761P BLCA 2 27552049 27552049 + Missense_Mutation SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr2:27552049C>T c.1978G>A c.(1978-1980)Gaa>Aaa p.E660K BLCA 2 27552094 27552094 + Missense_Mutation SNP G G A TCGA-FT-A61P-01A-11D-A30E-08 TCGA-FT-A61P-10A-01D-A30H-08 g.chr2:27552094G>A c.1933C>T c.(1933-1935)Cgt>Tgt p.R645C BLCA 2 27552143 27552143 + Missense_Mutation SNP G G T TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr2:27552143G>T c.1884C>A c.(1882-1884)ttC>ttA p.F628L BLCA 2 27552304 27552304 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr2:27552304G>A c.1819C>T c.(1819-1821)Cag>Tag p.Q607* BLCA 2 27559164 27559164 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr2:27559164G>C c.1256C>G c.(1255-1257)tCc>tGc p.S419C BLCA 2 27565766 27565766 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:27565766G>C c.496C>G c.(496-498)Caa>Gaa p.Q166E BLCA 2 27566208 27566208 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr2:27566208C>G c.214G>C c.(214-216)Gag>Cag p.E72Q BLCA 2 27566319 27566319 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr2:27566319C>T c.103G>A c.(103-105)Gat>Aat p.D35N BRCA 2 27551026 27551026 + Nonsense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:27551026G>A c.2287C>T c.(2287-2289)Cag>Tag p.Q763* BRCA 2 27551716 27551716 + Missense_Mutation SNP C C T TCGA-A2-A25D-01A-12D-A16D-09 TCGA-A2-A25D-10A-01D-A16D-09 g.chr2:27551716C>T c.2122G>A c.(2122-2124)Gtt>Att p.V708I BRCA 2 27552349 27552349 + Nonsense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr2:27552349G>A c.1774C>T c.(1774-1776)Cag>Tag p.Q592* BRCA 2 27556561 27556561 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:27556561T>G c.1693A>C c.(1693-1695)Acc>Ccc p.T565P BRCA 2 27559218 27559218 + Missense_Mutation SNP T T A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr2:27559218T>A c.1202A>T c.(1201-1203)gAc>gTc p.D401V CESC 2 27551770 27551770 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr2:27551770C>G c.2068G>C c.(2068-2070)Gac>Cac p.D690H CESC 2 27565900 27565900 + Nonsense_Mutation SNP G G T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chr2:27565900G>T c.362C>A c.(361-363)tCa>tAa p.S121* CESC 2 27566306 27566306 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr2:27566306G>C c.116C>G c.(115-117)tCt>tGt p.S39C COAD 2 27549613 27549613 + Missense_Mutation SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:27549613A>G c.2665T>C c.(2665-2667)Ttc>Ctc p.F889L COAD 2 27549651 27549651 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:27549651C>T c.2627G>A c.(2626-2628)cGt>cAt p.R876H COAD 2 27551030 27551030 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:27551030C>T c.2283G>A c.(2281-2283)ccG>ccA p.P761P COAD 2 27551342 27551342 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:27551342C>T c.2249G>A c.(2248-2250)cGa>cAa p.R750Q COAD 2 27551765 27551765 + Silent SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:27551765A>C c.2073T>G c.(2071-2073)gcT>gcG p.A691A COAD 2 27552064 27552064 + Missense_Mutation SNP G G A TCGA-D5-6898-01A-11D-1924-10 TCGA-D5-6898-10A-01D-1924-10 g.chr2:27552064G>A c.1963C>T c.(1963-1965)Cgc>Tgc p.R655C COAD 2 27552097 27552097 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:27552097G>A c.1930C>T c.(1930-1932)Cga>Tga p.R644* COAD 2 27552107 27552107 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:27552107G>A c.1920C>T c.(1918-1920)ttC>ttT p.F640F COAD 2 27552339 27552339 + Missense_Mutation SNP C C T TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr2:27552339C>T c.1784G>A c.(1783-1785)cGg>cAg p.R595Q COAD 2 27552340 27552340 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr2:27552340G>A c.1783C>T c.(1783-1785)Cgg>Tgg p.R595W COAD 2 27552340 27552340 + Missense_Mutation SNP G G A TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr2:27552340G>A c.1783C>T c.(1783-1785)Cgg>Tgg p.R595W COAD 2 27556572 27556572 + Missense_Mutation SNP G G T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:27556572G>T c.1682C>A c.(1681-1683)gCc>gAc p.A561D COAD 2 27560202 27560202 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr2:27560202C>T c.1036G>A c.(1036-1038)Gct>Act p.A346T COAD 2 27560424 27560424 + Splice_Site SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:27560424G>A c.952C>T c.(952-954)Cga>Tga p.R318* COAD 2 27565767 27565767 + Silent SNP A A T TCGA-AA-A02F-01A-01W-A00E-09 TCGA-AA-A02F-10A-01W-A00E-09 g.chr2:27565767A>T c.495T>A c.(493-495)tcT>tcA p.S165S COAD 2 27566203 27566203 + Silent SNP C C T TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr2:27566203C>T c.219G>A c.(217-219)caG>caA p.Q73Q COADREAD 2 27549613 27549613 + Missense_Mutation SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:27549613A>G c.2665T>C c.(2665-2667)Ttc>Ctc p.F889L COADREAD 2 27549651 27549651 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:27549651C>T c.2627G>A c.(2626-2628)cGt>cAt p.R876H COADREAD 2 27551030 27551030 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:27551030C>T c.2283G>A c.(2281-2283)ccG>ccA p.P761P COADREAD 2 27551342 27551342 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:27551342C>T c.2249G>A c.(2248-2250)cGa>cAa p.R750Q COADREAD 2 27551765 27551765 + Silent SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:27551765A>C c.2073T>G c.(2071-2073)gcT>gcG p.A691A COADREAD 2 27552064 27552064 + Missense_Mutation SNP G G A TCGA-D5-6898-01A-11D-1924-10 TCGA-D5-6898-10A-01D-1924-10 g.chr2:27552064G>A c.1963C>T c.(1963-1965)Cgc>Tgc p.R655C COADREAD 2 27552097 27552097 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:27552097G>A c.1930C>T c.(1930-1932)Cga>Tga p.R644* COADREAD 2 27552107 27552107 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:27552107G>A c.1920C>T c.(1918-1920)ttC>ttT p.F640F COADREAD 2 27552339 27552339 + Missense_Mutation SNP C C T TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr2:27552339C>T c.1784G>A c.(1783-1785)cGg>cAg p.R595Q COADREAD 2 27552340 27552340 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr2:27552340G>A c.1783C>T c.(1783-1785)Cgg>Tgg p.R595W COADREAD 2 27552340 27552340 + Missense_Mutation SNP G G A TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chr2:27552340G>A c.1783C>T c.(1783-1785)Cgg>Tgg p.R595W COADREAD 2 27556572 27556572 + Missense_Mutation SNP G G T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:27556572G>T c.1682C>A c.(1681-1683)gCc>gAc p.A561D COADREAD 2 27560202 27560202 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr2:27560202C>T c.1036G>A c.(1036-1038)Gct>Act p.A346T COADREAD 2 27560424 27560424 + Splice_Site SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:27560424G>A c.952C>T c.(952-954)Cga>Tga p.R318* COADREAD 2 27565767 27565767 + Silent SNP A A T TCGA-AA-A02F-01A-01W-A00E-09 TCGA-AA-A02F-10A-01W-A00E-09 g.chr2:27565767A>T c.495T>A c.(493-495)tcT>tcA p.S165S COADREAD 2 27565858 27565858 + Missense_Mutation SNP A A C TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr2:27565858A>C c.404T>G c.(403-405)cTg>cGg p.L135R COADREAD 2 27565880 27565880 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:27565880G>T c.382C>A c.(382-384)Ctc>Atc p.L128I COADREAD 2 27566203 27566203 + Silent SNP C C T TCGA-CM-6165-01A-11D-1650-10 TCGA-CM-6165-10A-01D-1650-10 g.chr2:27566203C>T c.219G>A c.(217-219)caG>caA p.Q73Q ESCA 2 27551017 27551017 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:27551017G>T c.2296C>A c.(2296-2298)Cct>Act p.P766T ESCA 2 27551709 27551709 + Splice_Site SNP A A G TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr2:27551709A>G c.e15+1 ESCA 2 27558466 27558466 + Splice_Site SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:27558466T>C c.1575A>G c.(1573-1575)ccA>ccG p.P525P ESCA 2 27564940 27564940 + Missense_Mutation SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 g.chr2:27564940G>A c.730C>T c.(730-732)Cgg>Tgg p.R244W ESCA 2 27566340 27566340 + Nonsense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr2:27566340G>A c.82C>T c.(82-84)Caa>Taa p.Q28* HNSC 2 27550056 27550056 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 g.chr2:27550056C>G c.2505G>C c.(2503-2505)gaG>gaC p.E835D HNSC 2 27559195 27559195 + Frame_Shift_Del DEL C C - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr2:27559195delC c.1225delG c.(1225-1227)gcafs p.A409fs HNSC 2 27566224 27566224 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr2:27566224C>G c.198G>C c.(196-198)caG>caC p.Q66H HNSC 2 27566241 27566241 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr2:27566241C>G c.181G>C c.(181-183)Gag>Cag p.E61Q HNSC 2 27566274 27566274 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr2:27566274C>G c.148G>C c.(148-150)Gag>Cag p.E50Q HNSC 2 27566301 27566301 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr2:27566301C>A c.121G>T c.(121-123)Gaa>Taa p.E41* HNSC 2 27566417 27566417 + Missense_Mutation SNP T T A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 g.chr2:27566417T>A c.5A>T c.(4-6)gAt>gTt p.D2V KICH 2 27550102 27550102 + Missense_Mutation SNP T T C TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr2:27550102T>C c.2459A>G c.(2458-2460)gAg>gGg p.E820G KIPAN 2 27550049 27550049 + Frame_Shift_Del DEL G G - TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr2:27550049delG c.2512delC c.(2512-2514)catfs p.H838fs KIPAN 2 27550102 27550102 + Missense_Mutation SNP T T C TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr2:27550102T>C c.2459A>G c.(2458-2460)gAg>gGg p.E820G KIPAN 2 27556578 27556578 + Missense_Mutation SNP C C T TCGA-Y8-A8S0-01A-11D-A36X-10 TCGA-Y8-A8S0-10A-01D-A370-10 g.chr2:27556578C>T c.1676G>A c.(1675-1677)aGc>aAc p.S559N KIPAN 2 27559290 27559290 + Missense_Mutation SNP A A G TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 g.chr2:27559290A>G c.1130T>C c.(1129-1131)tTt>tCt p.F377S KIPAN 2 27565792 27565792 + Missense_Mutation SNP G G A TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr2:27565792G>A c.470C>T c.(469-471)tCa>tTa p.S157L KIPAN 2 27565919 27565920 + Frame_Shift_Ins INS - - TGGCCTTT TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chr2:27565919_27565920insTGGCCTTT c.342_343insAAAGGCCA c.(340-345)ccccaafs p.Q115fs KIPAN 2 27565920 27565920 + Silent SNP G G T TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chr2:27565920G>T c.342C>A c.(340-342)ccC>ccA p.P114P KIPAN 2 27565929 27565930 + Frame_Shift_Del DEL GG GG - TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chr2:27565929_27565930delGG c.332_333delCC c.(331-333)cccfs p.P111fs KIRC 2 27550049 27550049 + Frame_Shift_Del DEL G G - TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr2:27550049delG c.2512delC c.(2512-2514)catfs p.H838fs KIRC 2 27559290 27559290 + Missense_Mutation SNP A A G TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 g.chr2:27559290A>G c.1130T>C c.(1129-1131)tTt>tCt p.F377S KIRC 2 27565792 27565792 + Missense_Mutation SNP G G A TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr2:27565792G>A c.470C>T c.(469-471)tCa>tTa p.S157L KIRP 2 27556578 27556578 + Missense_Mutation SNP C C T TCGA-Y8-A8S0-01A-11D-A36X-10 TCGA-Y8-A8S0-10A-01D-A370-10 g.chr2:27556578C>T c.1676G>A c.(1675-1677)aGc>aAc p.S559N KIRP 2 27565919 27565920 + Frame_Shift_Ins INS - - TGGCCTTT TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chr2:27565919_27565920insTGGCCTTT c.342_343insAAAGGCCA c.(340-345)ccccaafs p.Q115fs KIRP 2 27565920 27565920 + Silent SNP G G T TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chr2:27565920G>T c.342C>A c.(340-342)ccC>ccA p.P114P KIRP 2 27565929 27565930 + Frame_Shift_Del DEL GG GG - TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chr2:27565929_27565930delGG c.332_333delCC c.(331-333)cccfs p.P111fs LIHC 2 27550059 27550059 + Silent SNP C C A TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr2:27550059C>A c.2502G>T c.(2500-2502)ctG>ctT p.L834L LIHC 2 27551011 27551011 + Missense_Mutation SNP C C A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr2:27551011C>A c.2302G>T c.(2302-2304)Ggt>Tgt p.G768C LIHC 2 27552031 27552031 + Missense_Mutation SNP G G C TCGA-BC-4073-01B-02D-A12Z-10 TCGA-BC-4073-10A-01D-A12Z-10 g.chr2:27552031G>C c.1996C>G c.(1996-1998)Ccc>Gcc p.P666A LIHC 2 27559284 27559284 + Missense_Mutation SNP G G A TCGA-DD-A73G-01A-22D-A32G-10 TCGA-DD-A73G-10A-01D-A32G-10 g.chr2:27559284G>A c.1136C>T c.(1135-1137)tCg>tTg p.S379L LUAD 2 27550111 27550111 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr2:27550111C>A c.2450G>T c.(2449-2451)cGc>cTc p.R817L LUAD 2 27556629 27556629 + Missense_Mutation SNP T T A TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr2:27556629T>A c.1625A>T c.(1624-1626)cAg>cTg p.Q542L LUAD 2 27560391 27560391 + Missense_Mutation SNP C C T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:27560391C>T c.985G>A c.(985-987)Gag>Aag p.E329K LUAD 2 27564992 27564992 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr2:27564992C>A c.678G>T c.(676-678)aaG>aaT p.K226N LUAD 2 27565996 27565996 + Nonsense_Mutation SNP G G T TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr2:27565996G>T c.266C>A c.(265-267)tCa>tAa p.S89* LUAD 2 27566406 27566406 + Frame_Shift_Del DEL C C - TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr2:27566406delC c.16delG c.(16-18)gtcfs p.V6fs LUSC 2 27552333 27552333 + Missense_Mutation SNP G G C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr2:27552333G>C c.1790C>G c.(1789-1791)tCt>tGt p.S597C LUSC 2 27560185 27560185 + Missense_Mutation SNP C C A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr2:27560185C>A c.1053G>T c.(1051-1053)caG>caT p.Q351H LUSC 2 27565913 27565913 + Missense_Mutation SNP G G T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr2:27565913G>T c.349C>A c.(349-351)Cct>Act p.P117T LUSC 2 27566409 27566409 + Missense_Mutation SNP C C A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:27566409C>A c.13G>T c.(13-15)Ggg>Tgg p.G5W OV 2 27552339 27552339 + Missense_Mutation SNP C C T TCGA-09-2053-01C-01W-0722-08 TCGA-09-2053-10A-01W-0722-08 g.chr2:27552339C>T c.1784G>A c.(1783-1785)cGg>cAg p.R595Q PAAD 2 27551397 27551397 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:27551397C>T c.2194G>A c.(2194-2196)Gct>Act p.A732T PAAD 2 27565074 27565074 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:27565074G>A c.596C>T c.(595-597)gCt>gTt p.A199V READ 2 27565858 27565858 + Missense_Mutation SNP A A C TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr2:27565858A>C c.404T>G c.(403-405)cTg>cGg p.L135R READ 2 27565880 27565880 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:27565880G>T c.382C>A c.(382-384)Ctc>Atc p.L128I SKCM 2 27549689 27549689 + Silent SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr2:27549689G>T c.2589C>A c.(2587-2589)atC>atA p.I863I SKCM 2 27550131 27550131 + Silent SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr2:27550131G>A c.2430C>T c.(2428-2430)ctC>ctT p.L810L SKCM 2 27551026 27551026 + Nonsense_Mutation SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr2:27551026G>A c.2287C>T c.(2287-2289)Cag>Tag p.Q763* SKCM 2 27552031 27552031 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:27552031G>A c.1996C>T c.(1996-1998)Ccc>Tcc p.P666S SKCM 2 27552058 27552058 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:27552058A>C c.1969T>G c.(1969-1971)Ttg>Gtg p.L657V SKCM 2 27552100 27552100 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr2:27552100G>A c.1927C>T c.(1927-1929)Ctt>Ttt p.L643F SKCM 2 27552143 27552143 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 g.chr2:27552143G>A c.1884C>T c.(1882-1884)ttC>ttT p.F628F SKCM 2 27558560 27558560 + Missense_Mutation SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr2:27558560G>A c.1481C>T c.(1480-1482)cCc>cTc p.P494L SKCM 2 27558792 27558792 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr2:27558792G>A c.1459C>T c.(1459-1461)Cct>Tct p.P487S SKCM 2 27558793 27558793 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr2:27558793G>A c.1458C>T c.(1456-1458)acC>acT p.T486T SKCM 2 27559164 27559164 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr2:27559164G>A c.1256C>T c.(1255-1257)tCc>tTc p.S419F SKCM 2 27560379 27560379 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:27560379A>C c.997T>G c.(997-999)Tta>Gta p.L333V SKCM 2 27560827 27560827 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:27560827G>A c.916C>T c.(916-918)Cct>Tct p.P306S SKCM 2 27565723 27565723 + Missense_Mutation SNP C C T TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr2:27565723C>T c.539G>A c.(538-540)gGg>gAg p.G180E SKCM 2 27565843 27565843 + Missense_Mutation SNP G G A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:27565843G>A c.419C>T c.(418-420)cCt>cTt p.P140L SKCM 2 27566005 27566005 + Missense_Mutation SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr2:27566005G>A c.257C>T c.(256-258)tCa>tTa p.S86L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 2 27550106 27550106 single base substitution G T 3_prime_UTR_variant BLCA-US 2 27550106 27550106 single base substitution G T downstream_gene_variant BLCA-US 2 27550106 27550106 single base substitution G T exon_variant BLCA-US 2 27550106 27550106 single base substitution G T missense_variant Q112K 334C>A BLCA-US 2 27550106 27550106 single base substitution G T missense_variant Q327K 979C>A BLCA-US 2 27550106 27550106 single base substitution G T missense_variant Q33K 97C>A BLCA-US 2 27550106 27550106 single base substitution G T missense_variant Q819K 2455C>A BLCA-US 2 27551030 27551030 single base substitution C T 3_prime_UTR_variant BLCA-US 2 27551030 27551030 single base substitution C T downstream_gene_variant BLCA-US 2 27551030 27551030 single base substitution C T exon_variant BLCA-US 2 27551030 27551030 single base substitution C T synonymous_variant P269P 807G>A BLCA-US 2 27551030 27551030 single base substitution C T synonymous_variant P54P 162G>A BLCA-US 2 27551030 27551030 single base substitution C T synonymous_variant P761P 2283G>A BLCA-US 2 27551030 27551030 single base substitution C T upstream_gene_variant BLCA-US 2 27559164 27559164 single base substitution G C downstream_gene_variant BLCA-US 2 27559164 27559164 single base substitution G C exon_variant BLCA-US 2 27559164 27559164 single base substitution G C missense_variant S419C 1256C>G BLCA-US 2 27559164 27559164 single base substitution G C upstream_gene_variant BLCA-US 2 27566319 27566319 single base substitution C T missense_variant D35N 103G>A BRCA-EU 2 27543922 27543922 single base substitution C T downstream_gene_variant BRCA-EU 2 27544062 27544062 single base substitution G C downstream_gene_variant BRCA-EU 2 27544180 27544180 single base substitution G C downstream_gene_variant BRCA-EU 2 27546189 27546189 single base substitution C G downstream_gene_variant BRCA-EU 2 27547060 27547060 single base substitution G C downstream_gene_variant BRCA-EU 2 27547689 27547689 single base substitution C G downstream_gene_variant BRCA-EU 2 27548272 27548272 single base substitution G A downstream_gene_variant BRCA-EU 2 27548351 27548351 single base substitution T C downstream_gene_variant BRCA-EU 2 27550185 27550185 single base substitution T C downstream_gene_variant BRCA-EU 2 27550185 27550185 single base substitution T C intron_variant BRCA-EU 2 27552489 27552489 single base substitution C G intron_variant BRCA-EU 2 27552489 27552489 single base substitution C G upstream_gene_variant BRCA-EU 2 27559974 27559974 single base substitution G A intron_variant BRCA-EU 2 27559974 27559974 single base substitution G A upstream_gene_variant BRCA-EU 2 27560121 27560121 single base substitution G A exon_variant BRCA-EU 2 27560121 27560121 single base substitution G A stop_gained R373* 1117C>T BRCA-EU 2 27560121 27560121 single base substitution G A upstream_gene_variant BRCA-EU 2 27560538 27560538 single base substitution A C intron_variant BRCA-EU 2 27560538 27560538 single base substitution A C upstream_gene_variant BRCA-EU 2 27561919 27561919 single base substitution G C downstream_gene_variant BRCA-EU 2 27561919 27561919 single base substitution G C intron_variant BRCA-EU 2 27561919 27561919 single base substitution G C upstream_gene_variant BRCA-EU 2 27562609 27562609 single base substitution T A downstream_gene_variant BRCA-EU 2 27562609 27562609 single base substitution T A intron_variant BRCA-EU 2 27562609 27562609 single base substitution T A upstream_gene_variant BRCA-EU 2 27562736 27562736 single base substitution C G downstream_gene_variant BRCA-EU 2 27562736 27562736 single base substitution C G intron_variant BRCA-EU 2 27562736 27562736 single base substitution C G upstream_gene_variant BRCA-EU 2 27565462 27565462 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 27565462 27565462 deletion of <=200bp A - intron_variant BRCA-EU 2 27565462 27565462 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 27566224 27566224 single base substitution C G missense_variant Q66H 198G>C BRCA-EU 2 27566615 27566615 single base substitution G A intron_variant BRCA-EU 2 27566620 27566620 single base substitution C G intron_variant BRCA-EU 2 27567110 27567110 single base substitution C G intron_variant BRCA-EU 2 27567323 27567323 single base substitution C A intron_variant BRCA-EU 2 27567495 27567495 single base substitution G C intron_variant BRCA-EU 2 27568839 27568839 single base substitution C T intron_variant BRCA-EU 2 27569775 27569775 single base substitution C G intron_variant BRCA-EU 2 27571544 27571544 single base substitution G A intron_variant BRCA-EU 2 27573194 27573194 single base substitution C T 5_prime_UTR_variant BRCA-EU 2 27573194 27573194 single base substitution C T intron_variant BRCA-EU 2 27574760 27574760 single base substitution C G intron_variant BRCA-EU 2 27574881 27574881 single base substitution C G intron_variant BRCA-EU 2 27575517 27575517 single base substitution T A intron_variant BRCA-EU 2 27575548 27575548 deletion of <=200bp A - intron_variant BRCA-EU 2 27577625 27577625 deletion of <=200bp T - intron_variant BRCA-EU 2 27578063 27578063 single base substitution A C intron_variant BRCA-EU 2 27578986 27578986 single base substitution C T 5_prime_UTR_variant BRCA-EU 2 27578986 27578986 single base substitution C T intron_variant BRCA-EU 2 27579017 27579017 single base substitution C A 5_prime_UTR_variant BRCA-EU 2 27579017 27579017 single base substitution C A intron_variant BRCA-EU 2 27582413 27582413 single base substitution C G upstream_gene_variant BRCA-FR 2 27547689 27547689 single base substitution C G downstream_gene_variant BRCA-FR 2 27547980 27547980 single base substitution C T downstream_gene_variant BRCA-FR 2 27567110 27567110 single base substitution C G intron_variant BRCA-FR 2 27576117 27576117 single base substitution G A intron_variant BRCA-FR 2 27578063 27578063 single base substitution A C intron_variant BRCA-UK 2 27543922 27543922 single base substitution C T downstream_gene_variant BRCA-UK 2 27550357 27550357 single base substitution G C downstream_gene_variant BRCA-UK 2 27550357 27550357 single base substitution G C intron_variant BRCA-UK 2 27560538 27560538 single base substitution A C intron_variant BRCA-UK 2 27560538 27560538 single base substitution A C upstream_gene_variant BRCA-UK 2 27568839 27568839 single base substitution C T intron_variant BRCA-UK 2 27574760 27574760 single base substitution C G intron_variant BRCA-UK 2 27581506 27581506 single base substitution G C upstream_gene_variant BRCA-US 2 27549514 27549514 single base substitution C A 3_prime_UTR_variant BRCA-US 2 27549514 27549514 single base substitution C A downstream_gene_variant BRCA-US 2 27549514 27549514 single base substitution C A exon_variant BRCA-US 2 27549514 27549514 single base substitution C A intron_variant BRCA-US 2 27549514 27549514 single base substitution C A stop_lost *79L 236G>T BRCA-US 2 27551026 27551026 single base substitution G A 3_prime_UTR_variant BRCA-US 2 27551026 27551026 single base substitution G A downstream_gene_variant BRCA-US 2 27551026 27551026 single base substitution G A exon_variant BRCA-US 2 27551026 27551026 single base substitution G A stop_gained Q271* 811C>T BRCA-US 2 27551026 27551026 single base substitution G A stop_gained Q56* 166C>T BRCA-US 2 27551026 27551026 single base substitution G A stop_gained Q763* 2287C>T BRCA-US 2 27551026 27551026 single base substitution G A upstream_gene_variant BRCA-US 2 27551716 27551716 single base substitution C T exon_variant BRCA-US 2 27551716 27551716 single base substitution C T missense_variant V1I 1G>A BRCA-US 2 27551716 27551716 single base substitution C T missense_variant V216I 646G>A BRCA-US 2 27551716 27551716 single base substitution C T missense_variant V708I 2122G>A BRCA-US 2 27551716 27551716 single base substitution C T upstream_gene_variant BRCA-US 2 27552349 27552349 single base substitution G A stop_gained Q100* 298C>T BRCA-US 2 27552349 27552349 single base substitution G A stop_gained Q592* 1774C>T BRCA-US 2 27552349 27552349 single base substitution G A upstream_gene_variant BRCA-US 2 27556561 27556561 single base substitution T G downstream_gene_variant BRCA-US 2 27556561 27556561 single base substitution T G missense_variant T565P 1693A>C BRCA-US 2 27556561 27556561 single base substitution T G missense_variant T73P 217A>C BRCA-US 2 27556561 27556561 single base substitution T G upstream_gene_variant BRCA-US 2 27559218 27559218 single base substitution T A exon_variant BRCA-US 2 27559218 27559218 single base substitution T A missense_variant D401V 1202A>T BRCA-US 2 27559218 27559218 single base substitution T A upstream_gene_variant BTCA-JP 2 27549678 27549678 single base substitution C T downstream_gene_variant BTCA-JP 2 27549678 27549678 single base substitution C T exon_variant BTCA-JP 2 27549678 27549678 single base substitution C T intron_variant BTCA-JP 2 27549678 27549678 single base substitution C T missense_variant R375H 1124G>A BTCA-JP 2 27549678 27549678 single base substitution C T missense_variant R867H 2600G>A BTCA-JP 2 27551088 27551088 single base substitution A G downstream_gene_variant BTCA-JP 2 27551088 27551088 single base substitution A G exon_variant BTCA-JP 2 27551088 27551088 single base substitution A G intron_variant BTCA-JP 2 27551088 27551088 single base substitution A G upstream_gene_variant BTCA-JP 2 27556919 27556919 single base substitution G T downstream_gene_variant BTCA-JP 2 27556919 27556919 single base substitution G T intron_variant BTCA-JP 2 27556919 27556919 single base substitution G T upstream_gene_variant BTCA-JP 2 27559283 27559283 single base substitution C T exon_variant BTCA-JP 2 27559283 27559283 single base substitution C T synonymous_variant S379S 1137G>A BTCA-JP 2 27559283 27559283 single base substitution C T upstream_gene_variant BTCA-JP 2 27561025 27561025 single base substitution G T downstream_gene_variant BTCA-JP 2 27561025 27561025 single base substitution G T exon_variant BTCA-JP 2 27561025 27561025 single base substitution G T intron_variant BTCA-JP 2 27561025 27561025 single base substitution G T upstream_gene_variant BTCA-JP 2 27564940 27564940 single base substitution G A downstream_gene_variant BTCA-JP 2 27564940 27564940 single base substitution G A missense_variant R244W 730C>T BTCA-JP 2 27564940 27564940 single base substitution G A upstream_gene_variant BTCA-JP 2 27578872 27578872 single base substitution G A intron_variant CESC-US 2 27547302 27547302 single base substitution C T downstream_gene_variant CESC-US 2 27551770 27551770 single base substitution C G exon_variant CESC-US 2 27551770 27551770 single base substitution C G missense_variant D198H 592G>C CESC-US 2 27551770 27551770 single base substitution C G missense_variant D690H 2068G>C CESC-US 2 27551770 27551770 single base substitution C G upstream_gene_variant CESC-US 2 27560101 27560101 single base substitution C A intron_variant CESC-US 2 27560101 27560101 single base substitution C A upstream_gene_variant CESC-US 2 27565900 27565900 single base substitution G T downstream_gene_variant CESC-US 2 27565900 27565900 single base substitution G T stop_gained S121* 362C>A CESC-US 2 27565900 27565900 single base substitution G T upstream_gene_variant CESC-US 2 27566306 27566306 single base substitution G C missense_variant S39C 116C>G CLLE-ES 2 27553167 27553167 single base substitution A G intron_variant CLLE-ES 2 27553167 27553167 single base substitution A G upstream_gene_variant CLLE-ES 2 27561750 27561750 single base substitution G A downstream_gene_variant CLLE-ES 2 27561750 27561750 single base substitution G A intron_variant CLLE-ES 2 27561750 27561750 single base substitution G A upstream_gene_variant CLLE-ES 2 27567337 27567337 single base substitution C T intron_variant CLLE-ES 2 27578290 27578290 single base substitution G A intron_variant COAD-US 2 27549651 27549651 single base substitution C T downstream_gene_variant COAD-US 2 27549651 27549651 single base substitution C T exon_variant COAD-US 2 27549651 27549651 single base substitution C T intron_variant COAD-US 2 27549651 27549651 single base substitution C T missense_variant R384H 1151G>A COAD-US 2 27549651 27549651 single base substitution C T missense_variant R876H 2627G>A COAD-US 2 27552064 27552064 single base substitution G A exon_variant COAD-US 2 27552064 27552064 single base substitution G A missense_variant R163C 487C>T COAD-US 2 27552064 27552064 single base substitution G A missense_variant R655C 1963C>T COAD-US 2 27552064 27552064 single base substitution G A upstream_gene_variant COAD-US 2 27556572 27556572 single base substitution G T downstream_gene_variant COAD-US 2 27556572 27556572 single base substitution G T missense_variant A561D 1682C>A COAD-US 2 27556572 27556572 single base substitution G T missense_variant A69D 206C>A COAD-US 2 27556572 27556572 single base substitution G T upstream_gene_variant COAD-US 2 27566203 27566203 single base substitution C T synonymous_variant Q73Q 219G>A COCA-CN 2 27547330 27547330 single base substitution A C downstream_gene_variant COCA-CN 2 27551413 27551413 single base substitution G A exon_variant COCA-CN 2 27551413 27551413 single base substitution G A synonymous_variant S19S 57C>T COCA-CN 2 27551413 27551413 single base substitution G A synonymous_variant S234S 702C>T COCA-CN 2 27551413 27551413 single base substitution G A synonymous_variant S726S 2178C>T COCA-CN 2 27551413 27551413 single base substitution G A upstream_gene_variant COCA-CN 2 27551681 27551681 single base substitution A T intron_variant COCA-CN 2 27551681 27551681 single base substitution A T upstream_gene_variant COCA-CN 2 27551810 27551810 single base substitution G T intron_variant COCA-CN 2 27551810 27551810 single base substitution G T upstream_gene_variant COCA-CN 2 27559320 27559320 single base substitution G T exon_variant COCA-CN 2 27559320 27559320 single base substitution G T intron_variant COCA-CN 2 27559320 27559320 single base substitution G T upstream_gene_variant COCA-CN 2 27565829 27565829 single base substitution G A downstream_gene_variant COCA-CN 2 27565829 27565829 single base substitution G A stop_gained R145* 433C>T COCA-CN 2 27565829 27565829 single base substitution G A upstream_gene_variant ESAD-UK 2 27543853 27543853 single base substitution C T downstream_gene_variant ESAD-UK 2 27543974 27543974 single base substitution G A downstream_gene_variant ESAD-UK 2 27545825 27545825 single base substitution C T downstream_gene_variant ESAD-UK 2 27546813 27546813 single base substitution A G downstream_gene_variant ESAD-UK 2 27548200 27548200 single base substitution G A downstream_gene_variant ESAD-UK 2 27548771 27548771 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 27548771 27548771 single base substitution T C downstream_gene_variant ESAD-UK 2 27548834 27548834 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 27548834 27548834 single base substitution T C downstream_gene_variant ESAD-UK 2 27550174 27550174 single base substitution G T downstream_gene_variant ESAD-UK 2 27550174 27550174 single base substitution G T intron_variant ESAD-UK 2 27550681 27550681 single base substitution G A downstream_gene_variant ESAD-UK 2 27550681 27550681 single base substitution G A intron_variant ESAD-UK 2 27552724 27552724 single base substitution A C intron_variant ESAD-UK 2 27552724 27552724 single base substitution A C upstream_gene_variant ESAD-UK 2 27553539 27553539 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 27553539 27553539 insertion of <=200bp - A intron_variant ESAD-UK 2 27553539 27553539 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 27556149 27556149 single base substitution G A downstream_gene_variant ESAD-UK 2 27556149 27556149 single base substitution G A intron_variant ESAD-UK 2 27556149 27556149 single base substitution G A upstream_gene_variant ESAD-UK 2 27556648 27556648 single base substitution G C downstream_gene_variant ESAD-UK 2 27556648 27556648 single base substitution G C missense_variant Q44E 130C>G ESAD-UK 2 27556648 27556648 single base substitution G C missense_variant Q536E 1606C>G ESAD-UK 2 27556648 27556648 single base substitution G C upstream_gene_variant ESAD-UK 2 27557584 27557584 single base substitution A G downstream_gene_variant ESAD-UK 2 27557584 27557584 single base substitution A G intron_variant ESAD-UK 2 27559155 27559155 single base substitution T G downstream_gene_variant ESAD-UK 2 27559155 27559155 single base substitution T G exon_variant ESAD-UK 2 27559155 27559155 single base substitution T G missense_variant D422A 1265A>C ESAD-UK 2 27559155 27559155 single base substitution T G upstream_gene_variant ESAD-UK 2 27559559 27559559 single base substitution G A exon_variant ESAD-UK 2 27559559 27559559 single base substitution G A intron_variant ESAD-UK 2 27559559 27559559 single base substitution G A upstream_gene_variant ESAD-UK 2 27561570 27561570 single base substitution A C downstream_gene_variant ESAD-UK 2 27561570 27561570 single base substitution A C intron_variant ESAD-UK 2 27561570 27561570 single base substitution A C upstream_gene_variant ESAD-UK 2 27561620 27561620 single base substitution G A downstream_gene_variant ESAD-UK 2 27561620 27561620 single base substitution G A intron_variant ESAD-UK 2 27561620 27561620 single base substitution G A upstream_gene_variant ESAD-UK 2 27569567 27569567 single base substitution A T intron_variant ESAD-UK 2 27569892 27569892 single base substitution T G intron_variant ESAD-UK 2 27569910 27569910 single base substitution C T intron_variant ESAD-UK 2 27570142 27570142 single base substitution C T intron_variant ESAD-UK 2 27572686 27572686 single base substitution T C intron_variant ESAD-UK 2 27573317 27573317 single base substitution G T 5_prime_UTR_variant ESAD-UK 2 27573317 27573317 single base substitution G T intron_variant ESAD-UK 2 27573511 27573511 insertion of <=200bp - T intron_variant ESAD-UK 2 27578207 27578207 single base substitution G A intron_variant ESAD-UK 2 27579516 27579516 single base substitution G A intron_variant ESAD-UK 2 27579516 27579516 single base substitution G A upstream_gene_variant ESAD-UK 2 27580300 27580300 single base substitution T G upstream_gene_variant ESCA-CN 2 27549719 27549719 single base substitution T C downstream_gene_variant ESCA-CN 2 27549719 27549719 single base substitution T C exon_variant ESCA-CN 2 27549719 27549719 single base substitution T C intron_variant ESCA-CN 2 27549719 27549719 single base substitution T C synonymous_variant V361V 1083A>G ESCA-CN 2 27549719 27549719 single base substitution T C synonymous_variant V853V 2559A>G ESCA-CN 2 27549833 27549833 single base substitution C A downstream_gene_variant ESCA-CN 2 27549833 27549833 single base substitution C A intron_variant ESCA-CN 2 27560882 27560882 single base substitution C T downstream_gene_variant ESCA-CN 2 27560882 27560882 single base substitution C T exon_variant ESCA-CN 2 27560882 27560882 single base substitution C T synonymous_variant Q287Q 861G>A ESCA-CN 2 27560882 27560882 single base substitution C T upstream_gene_variant GACA-CN 2 27565716 27565716 single base substitution T G downstream_gene_variant GACA-CN 2 27565716 27565716 single base substitution T G synonymous_variant R182R 546A>C GACA-CN 2 27565716 27565716 single base substitution T G upstream_gene_variant KIRC-US 2 27550049 27550049 deletion of <=200bp G - 3_prime_UTR_variant KIRC-US 2 27550049 27550049 deletion of <=200bp G - downstream_gene_variant KIRC-US 2 27550049 27550049 deletion of <=200bp G - exon_variant KIRC-US 2 27550049 27550049 deletion of <=200bp G - frameshift_variant H131 KIRC-US 2 27550049 27550049 deletion of <=200bp G - frameshift_variant H346 KIRC-US 2 27550049 27550049 deletion of <=200bp G - frameshift_variant H52 KIRC-US 2 27550049 27550049 deletion of <=200bp G - frameshift_variant H838 KIRC-US 2 27565792 27565792 single base substitution G A downstream_gene_variant KIRC-US 2 27565792 27565792 single base substitution G A missense_variant S157L 470C>T KIRC-US 2 27565792 27565792 single base substitution G A upstream_gene_variant KIRP-US 2 27565919 27565919 insertion of <=200bp - TGGCCTTT downstream_gene_variant KIRP-US 2 27565919 27565919 insertion of <=200bp - TGGCCTTT frameshift_variant Q115QRP? KIRP-US 2 27565919 27565919 insertion of <=200bp - TGGCCTTT upstream_gene_variant KIRP-US 2 27565920 27565920 single base substitution G T downstream_gene_variant KIRP-US 2 27565920 27565920 single base substitution G T synonymous_variant P114P 342C>A KIRP-US 2 27565920 27565920 single base substitution G T upstream_gene_variant LAML-KR 2 27582346 27582346 single base substitution C A upstream_gene_variant LAML-KR 2 27582714 27582714 single base substitution C G upstream_gene_variant LAML-KR 2 27582757 27582757 single base substitution C T upstream_gene_variant LICA-CN 2 27559153 27559153 single base substitution T A downstream_gene_variant LICA-CN 2 27559153 27559153 single base substitution T A exon_variant LICA-CN 2 27559153 27559153 single base substitution T A missense_variant M423L 1267A>T LICA-CN 2 27559153 27559153 single base substitution T A upstream_gene_variant LICA-FR 2 27546136 27546136 single base substitution G C downstream_gene_variant LICA-FR 2 27550940 27550940 single base substitution G A 3_prime_UTR_variant LICA-FR 2 27550940 27550940 single base substitution G A downstream_gene_variant LICA-FR 2 27550940 27550940 single base substitution G A exon_variant LICA-FR 2 27550940 27550940 single base substitution G A synonymous_variant V299V 897C>T LICA-FR 2 27550940 27550940 single base substitution G A synonymous_variant V5V 15C>T LICA-FR 2 27550940 27550940 single base substitution G A synonymous_variant V791V 2373C>T LICA-FR 2 27550940 27550940 single base substitution G A synonymous_variant V84V 252C>T LICA-FR 2 27552273 27552273 single base substitution C T exon_variant LICA-FR 2 27552273 27552273 single base substitution C T missense_variant R125H 374G>A LICA-FR 2 27552273 27552273 single base substitution C T missense_variant R617H 1850G>A LICA-FR 2 27552273 27552273 single base substitution C T upstream_gene_variant LICA-FR 2 27553136 27553136 single base substitution C A intron_variant LICA-FR 2 27553136 27553136 single base substitution C A upstream_gene_variant LICA-FR 2 27559189 27559189 single base substitution C T downstream_gene_variant LICA-FR 2 27559189 27559189 single base substitution C T exon_variant LICA-FR 2 27559189 27559189 single base substitution C T missense_variant A411T 1231G>A LICA-FR 2 27559189 27559189 single base substitution C T upstream_gene_variant LICA-FR 2 27564272 27564272 single base substitution C T downstream_gene_variant LICA-FR 2 27564272 27564272 single base substitution C T intron_variant LICA-FR 2 27564272 27564272 single base substitution C T upstream_gene_variant LIHC-US 2 27550059 27550059 single base substitution C A 3_prime_UTR_variant LIHC-US 2 27550059 27550059 single base substitution C A downstream_gene_variant LIHC-US 2 27550059 27550059 single base substitution C A exon_variant LIHC-US 2 27550059 27550059 single base substitution C A synonymous_variant L127L 381G>T LIHC-US 2 27550059 27550059 single base substitution C A synonymous_variant L342L 1026G>T LIHC-US 2 27550059 27550059 single base substitution C A synonymous_variant L48L 144G>T LIHC-US 2 27550059 27550059 single base substitution C A synonymous_variant L834L 2502G>T LIHC-US 2 27552031 27552031 single base substitution G C exon_variant LIHC-US 2 27552031 27552031 single base substitution G C missense_variant P174A 520C>G LIHC-US 2 27552031 27552031 single base substitution G C missense_variant P666A 1996C>G LIHC-US 2 27552031 27552031 single base substitution G C upstream_gene_variant LIHC-US 2 27559284 27559284 single base substitution G A exon_variant LIHC-US 2 27559284 27559284 single base substitution G A missense_variant S379L 1136C>T LIHC-US 2 27559284 27559284 single base substitution G A upstream_gene_variant LINC-JP 2 27547423 27547423 single base substitution T A downstream_gene_variant LINC-JP 2 27551971 27551972 deletion of <=200bp TC - intron_variant LINC-JP 2 27551971 27551972 deletion of <=200bp TC - upstream_gene_variant LINC-JP 2 27558410 27558410 single base substitution T G downstream_gene_variant LINC-JP 2 27558410 27558410 single base substitution T G intron_variant LINC-JP 2 27558410 27558410 single base substitution T G upstream_gene_variant LINC-JP 2 27560672 27560672 deletion of <=200bp G - intron_variant LINC-JP 2 27560672 27560672 deletion of <=200bp G - upstream_gene_variant LINC-JP 2 27560734 27560734 single base substitution G A intron_variant LINC-JP 2 27560734 27560734 single base substitution G A upstream_gene_variant LINC-JP 2 27562295 27562295 single base substitution G A downstream_gene_variant LINC-JP 2 27562295 27562295 single base substitution G A intron_variant LINC-JP 2 27562295 27562295 single base substitution G A upstream_gene_variant LINC-JP 2 27565943 27565943 single base substitution T C downstream_gene_variant LINC-JP 2 27565943 27565943 single base substitution T C missense_variant T107A 319A>G LINC-JP 2 27565943 27565943 single base substitution T C upstream_gene_variant LIRI-JP 2 27544995 27544995 single base substitution T C downstream_gene_variant LIRI-JP 2 27545549 27545562 deletion of <=200bp TCGCAGGAGTCGCC - downstream_gene_variant LIRI-JP 2 27551321 27551321 single base substitution G C exon_variant LIRI-JP 2 27551321 27551321 single base substitution G C intron_variant LIRI-JP 2 27551321 27551321 single base substitution G C upstream_gene_variant LIRI-JP 2 27552308 27552308 single base substitution G A exon_variant LIRI-JP 2 27552308 27552308 single base substitution G A synonymous_variant P113P 339C>T LIRI-JP 2 27552308 27552308 single base substitution G A synonymous_variant P605P 1815C>T LIRI-JP 2 27552308 27552308 single base substitution G A upstream_gene_variant LIRI-JP 2 27553718 27553718 single base substitution A G downstream_gene_variant LIRI-JP 2 27553718 27553718 single base substitution A G intron_variant LIRI-JP 2 27553718 27553718 single base substitution A G upstream_gene_variant LIRI-JP 2 27559773 27559773 single base substitution G A intron_variant LIRI-JP 2 27559773 27559773 single base substitution G A upstream_gene_variant LIRI-JP 2 27560118 27560118 single base substitution T C exon_variant LIRI-JP 2 27560118 27560118 single base substitution T C missense_variant I374V 1120A>G LIRI-JP 2 27560118 27560118 single base substitution T C upstream_gene_variant LIRI-JP 2 27560455 27560455 single base substitution G A intron_variant LIRI-JP 2 27560455 27560455 single base substitution G A upstream_gene_variant LIRI-JP 2 27561355 27561355 single base substitution G T downstream_gene_variant LIRI-JP 2 27561355 27561355 single base substitution G T intron_variant LIRI-JP 2 27561355 27561355 single base substitution G T upstream_gene_variant LIRI-JP 2 27563810 27563810 single base substitution C A downstream_gene_variant LIRI-JP 2 27563810 27563810 single base substitution C A intron_variant LIRI-JP 2 27563810 27563810 single base substitution C A upstream_gene_variant LIRI-JP 2 27563981 27563981 single base substitution C T downstream_gene_variant LIRI-JP 2 27563981 27563981 single base substitution C T intron_variant LIRI-JP 2 27563981 27563981 single base substitution C T upstream_gene_variant LIRI-JP 2 27564607 27564607 single base substitution A C downstream_gene_variant LIRI-JP 2 27564607 27564607 single base substitution A C intron_variant LIRI-JP 2 27564607 27564607 single base substitution A C upstream_gene_variant LIRI-JP 2 27565683 27565683 single base substitution C A downstream_gene_variant LIRI-JP 2 27565683 27565683 single base substitution C A intron_variant LIRI-JP 2 27565683 27565683 single base substitution C A upstream_gene_variant LIRI-JP 2 27570359 27570359 single base substitution T C intron_variant LIRI-JP 2 27570852 27570852 single base substitution A T intron_variant LIRI-JP 2 27574061 27574061 single base substitution C T intron_variant LIRI-JP 2 27579676 27579676 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 2 27579676 27579676 single base substitution A C upstream_gene_variant LIRI-JP 2 27580428 27580428 single base substitution T A upstream_gene_variant LIRI-JP 2 27584460 27584460 single base substitution C T upstream_gene_variant LUSC-KR 2 27545813 27545813 single base substitution G A downstream_gene_variant LUSC-KR 2 27546634 27546634 single base substitution C G downstream_gene_variant LUSC-KR 2 27550341 27550341 single base substitution G A downstream_gene_variant LUSC-KR 2 27550341 27550341 single base substitution G A intron_variant LUSC-KR 2 27553418 27553418 single base substitution T C intron_variant LUSC-KR 2 27553418 27553418 single base substitution T C upstream_gene_variant LUSC-KR 2 27553495 27553495 single base substitution G C downstream_gene_variant LUSC-KR 2 27553495 27553495 single base substitution G C intron_variant LUSC-KR 2 27553495 27553495 single base substitution G C upstream_gene_variant LUSC-KR 2 27556150 27556150 single base substitution C G downstream_gene_variant LUSC-KR 2 27556150 27556150 single base substitution C G intron_variant LUSC-KR 2 27556150 27556150 single base substitution C G upstream_gene_variant LUSC-KR 2 27556239 27556239 single base substitution C G downstream_gene_variant LUSC-KR 2 27556239 27556239 single base substitution C G intron_variant LUSC-KR 2 27556239 27556239 single base substitution C G upstream_gene_variant LUSC-KR 2 27559697 27559697 single base substitution G C intron_variant LUSC-KR 2 27559697 27559697 single base substitution G C upstream_gene_variant LUSC-KR 2 27562317 27562317 single base substitution C A downstream_gene_variant LUSC-KR 2 27562317 27562317 single base substitution C A intron_variant LUSC-KR 2 27562317 27562317 single base substitution C A upstream_gene_variant LUSC-KR 2 27562764 27562764 single base substitution G A downstream_gene_variant LUSC-KR 2 27562764 27562764 single base substitution G A intron_variant LUSC-KR 2 27562764 27562764 single base substitution G A upstream_gene_variant LUSC-KR 2 27566908 27566908 single base substitution A T intron_variant LUSC-KR 2 27569900 27569900 single base substitution C T intron_variant LUSC-KR 2 27571697 27571697 single base substitution T C intron_variant LUSC-KR 2 27582180 27582180 single base substitution T C upstream_gene_variant LUSC-KR 2 27582191 27582191 single base substitution A G upstream_gene_variant LUSC-KR 2 27582532 27582532 single base substitution G A upstream_gene_variant LUSC-KR 2 27582534 27582534 single base substitution C T upstream_gene_variant LUSC-KR 2 27582614 27582614 single base substitution A G upstream_gene_variant LUSC-KR 2 27582714 27582714 single base substitution C G upstream_gene_variant LUSC-KR 2 27583326 27583326 single base substitution G C upstream_gene_variant LUSC-US 2 27545374 27545374 single base substitution C A downstream_gene_variant LUSC-US 2 27552333 27552333 single base substitution G C missense_variant S105C 314C>G LUSC-US 2 27552333 27552333 single base substitution G C missense_variant S597C 1790C>G LUSC-US 2 27552333 27552333 single base substitution G C upstream_gene_variant LUSC-US 2 27560185 27560185 single base substitution C A exon_variant LUSC-US 2 27560185 27560185 single base substitution C A missense_variant Q351H 1053G>T LUSC-US 2 27560185 27560185 single base substitution C A upstream_gene_variant LUSC-US 2 27565913 27565913 single base substitution G T downstream_gene_variant LUSC-US 2 27565913 27565913 single base substitution G T missense_variant P117T 349C>A LUSC-US 2 27565913 27565913 single base substitution G T upstream_gene_variant LUSC-US 2 27566409 27566409 single base substitution C A missense_variant G5W 13G>T MALY-DE 2 27546703 27546703 single base substitution T C downstream_gene_variant MALY-DE 2 27554333 27554333 single base substitution C T downstream_gene_variant MALY-DE 2 27554333 27554333 single base substitution C T intron_variant MALY-DE 2 27554333 27554333 single base substitution C T upstream_gene_variant MALY-DE 2 27561328 27561329 deletion of <=200bp CA - downstream_gene_variant MALY-DE 2 27561328 27561329 deletion of <=200bp CA - intron_variant MALY-DE 2 27561328 27561329 deletion of <=200bp CA - upstream_gene_variant MALY-DE 2 27579456 27579456 single base substitution T G intron_variant MALY-DE 2 27579456 27579456 single base substitution T G upstream_gene_variant MALY-DE 2 27582435 27582435 deletion of <=200bp G - upstream_gene_variant MELA-AU 2 27543986 27543986 single base substitution G A downstream_gene_variant MELA-AU 2 27544610 27544610 single base substitution G A downstream_gene_variant MELA-AU 2 27544733 27544733 single base substitution G A downstream_gene_variant MELA-AU 2 27545054 27545054 single base substitution C T downstream_gene_variant MELA-AU 2 27545788 27545788 single base substitution A G downstream_gene_variant MELA-AU 2 27545960 27545960 single base substitution G A downstream_gene_variant MELA-AU 2 27545983 27545983 single base substitution C T downstream_gene_variant MELA-AU 2 27545983 27545984 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 27545984 27545984 single base substitution C T downstream_gene_variant MELA-AU 2 27545999 27545999 single base substitution C T downstream_gene_variant MELA-AU 2 27547735 27547735 single base substitution G A downstream_gene_variant MELA-AU 2 27548268 27548268 single base substitution G A downstream_gene_variant MELA-AU 2 27548571 27548571 single base substitution G T downstream_gene_variant MELA-AU 2 27548659 27548661 deletion of <=200bp TAA - downstream_gene_variant MELA-AU 2 27549412 27549412 single base substitution G A 3_prime_UTR_variant MELA-AU 2 27549412 27549412 single base substitution G A downstream_gene_variant MELA-AU 2 27549412 27549412 single base substitution G A exon_variant MELA-AU 2 27549412 27549412 single base substitution G A intron_variant MELA-AU 2 27549742 27549742 single base substitution G A downstream_gene_variant MELA-AU 2 27549742 27549742 single base substitution G A exon_variant MELA-AU 2 27549742 27549742 single base substitution G A intron_variant MELA-AU 2 27549742 27549742 single base substitution G A synonymous_variant L354L 1060C>T MELA-AU 2 27549742 27549742 single base substitution G A synonymous_variant L846L 2536C>T MELA-AU 2 27550097 27550097 single base substitution C T 3_prime_UTR_variant MELA-AU 2 27550097 27550097 single base substitution C T downstream_gene_variant MELA-AU 2 27550097 27550097 single base substitution C T exon_variant MELA-AU 2 27550097 27550097 single base substitution C T missense_variant E115K 343G>A MELA-AU 2 27550097 27550097 single base substitution C T missense_variant E330K 988G>A MELA-AU 2 27550097 27550097 single base substitution C T missense_variant E36K 106G>A MELA-AU 2 27550097 27550097 single base substitution C T missense_variant E822K 2464G>A MELA-AU 2 27550411 27550411 single base substitution G A downstream_gene_variant MELA-AU 2 27550411 27550411 single base substitution G A intron_variant MELA-AU 2 27550461 27550461 single base substitution G A downstream_gene_variant MELA-AU 2 27550461 27550461 single base substitution G A intron_variant MELA-AU 2 27551031 27551031 single base substitution G A 3_prime_UTR_variant MELA-AU 2 27551031 27551031 single base substitution G A downstream_gene_variant MELA-AU 2 27551031 27551031 single base substitution G A exon_variant MELA-AU 2 27551031 27551031 single base substitution G A missense_variant P269L 806C>T MELA-AU 2 27551031 27551031 single base substitution G A missense_variant P54L 161C>T MELA-AU 2 27551031 27551031 single base substitution G A missense_variant P761L 2282C>T MELA-AU 2 27551031 27551031 single base substitution G A upstream_gene_variant MELA-AU 2 27551032 27551032 single base substitution G A 3_prime_UTR_variant MELA-AU 2 27551032 27551032 single base substitution G A downstream_gene_variant MELA-AU 2 27551032 27551032 single base substitution G A exon_variant MELA-AU 2 27551032 27551032 single base substitution G A missense_variant P269S 805C>T MELA-AU 2 27551032 27551032 single base substitution G A missense_variant P54S 160C>T MELA-AU 2 27551032 27551032 single base substitution G A missense_variant P761S 2281C>T MELA-AU 2 27551032 27551032 single base substitution G A upstream_gene_variant MELA-AU 2 27551370 27551370 single base substitution G A exon_variant MELA-AU 2 27551370 27551370 single base substitution G A missense_variant P249S 745C>T MELA-AU 2 27551370 27551370 single base substitution G A missense_variant P34S 100C>T MELA-AU 2 27551370 27551370 single base substitution G A missense_variant P741S 2221C>T MELA-AU 2 27551370 27551370 single base substitution G A upstream_gene_variant MELA-AU 2 27553100 27553101 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 27553100 27553101 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 27554102 27554102 single base substitution G A downstream_gene_variant MELA-AU 2 27554102 27554102 single base substitution G A intron_variant MELA-AU 2 27554102 27554102 single base substitution G A upstream_gene_variant MELA-AU 2 27554218 27554218 single base substitution G A downstream_gene_variant MELA-AU 2 27554218 27554218 single base substitution G A intron_variant MELA-AU 2 27554218 27554218 single base substitution G A upstream_gene_variant MELA-AU 2 27554296 27554296 single base substitution G A downstream_gene_variant MELA-AU 2 27554296 27554296 single base substitution G A intron_variant MELA-AU 2 27554296 27554296 single base substitution G A upstream_gene_variant MELA-AU 2 27555445 27555445 single base substitution G A downstream_gene_variant MELA-AU 2 27555445 27555445 single base substitution G A intron_variant MELA-AU 2 27555445 27555445 single base substitution G A upstream_gene_variant MELA-AU 2 27555549 27555549 single base substitution G A downstream_gene_variant MELA-AU 2 27555549 27555549 single base substitution G A intron_variant MELA-AU 2 27555549 27555549 single base substitution G A upstream_gene_variant MELA-AU 2 27556292 27556292 single base substitution G A downstream_gene_variant MELA-AU 2 27556292 27556292 single base substitution G A intron_variant MELA-AU 2 27556292 27556292 single base substitution G A upstream_gene_variant MELA-AU 2 27556544 27556544 single base substitution G A downstream_gene_variant MELA-AU 2 27556544 27556544 single base substitution G A synonymous_variant H570H 1710C>T MELA-AU 2 27556544 27556544 single base substitution G A synonymous_variant H78H 234C>T MELA-AU 2 27556544 27556544 single base substitution G A upstream_gene_variant MELA-AU 2 27557066 27557066 single base substitution C G downstream_gene_variant MELA-AU 2 27557066 27557066 single base substitution C G intron_variant MELA-AU 2 27557066 27557066 single base substitution C G upstream_gene_variant MELA-AU 2 27557682 27557682 single base substitution A C downstream_gene_variant MELA-AU 2 27557682 27557682 single base substitution A C intron_variant MELA-AU 2 27557909 27557909 single base substitution G A downstream_gene_variant MELA-AU 2 27557909 27557909 single base substitution G A intron_variant MELA-AU 2 27558212 27558212 single base substitution G A downstream_gene_variant MELA-AU 2 27558212 27558212 single base substitution G A intron_variant MELA-AU 2 27558212 27558212 single base substitution G A missense_variant P28S 82C>T MELA-AU 2 27558244 27558244 single base substitution G A downstream_gene_variant MELA-AU 2 27558244 27558244 single base substitution G A intron_variant MELA-AU 2 27558244 27558244 single base substitution G A missense_variant P17L 50C>T MELA-AU 2 27558395 27558395 single base substitution G A downstream_gene_variant MELA-AU 2 27558395 27558395 single base substitution G A intron_variant MELA-AU 2 27558395 27558395 single base substitution G A upstream_gene_variant MELA-AU 2 27558495 27558495 single base substitution G A downstream_gene_variant MELA-AU 2 27558495 27558495 single base substitution G A exon_variant MELA-AU 2 27558495 27558495 single base substitution G A missense_variant P516S 1546C>T MELA-AU 2 27558495 27558495 single base substitution G A upstream_gene_variant MELA-AU 2 27559324 27559324 single base substitution G A exon_variant MELA-AU 2 27559324 27559324 single base substitution G A intron_variant MELA-AU 2 27559324 27559324 single base substitution G A upstream_gene_variant MELA-AU 2 27559346 27559346 single base substitution G A exon_variant MELA-AU 2 27559346 27559346 single base substitution G A intron_variant MELA-AU 2 27559346 27559346 single base substitution G A upstream_gene_variant MELA-AU 2 27559740 27559740 single base substitution G A intron_variant MELA-AU 2 27559740 27559740 single base substitution G A upstream_gene_variant MELA-AU 2 27560382 27560382 single base substitution G A exon_variant MELA-AU 2 27560382 27560382 single base substitution G A missense_variant P332S 994C>T MELA-AU 2 27560382 27560382 single base substitution G A upstream_gene_variant MELA-AU 2 27560509 27560509 single base substitution G A intron_variant MELA-AU 2 27560509 27560509 single base substitution G A upstream_gene_variant MELA-AU 2 27560939 27560939 single base substitution A T downstream_gene_variant MELA-AU 2 27560939 27560939 single base substitution A T exon_variant MELA-AU 2 27560939 27560939 single base substitution A T intron_variant MELA-AU 2 27560939 27560939 single base substitution A T upstream_gene_variant MELA-AU 2 27561630 27561630 single base substitution C T downstream_gene_variant MELA-AU 2 27561630 27561630 single base substitution C T intron_variant MELA-AU 2 27561630 27561630 single base substitution C T upstream_gene_variant MELA-AU 2 27561674 27561674 single base substitution G A downstream_gene_variant MELA-AU 2 27561674 27561674 single base substitution G A intron_variant MELA-AU 2 27561674 27561674 single base substitution G A upstream_gene_variant MELA-AU 2 27561719 27561719 single base substitution G A downstream_gene_variant MELA-AU 2 27561719 27561719 single base substitution G A intron_variant MELA-AU 2 27561719 27561719 single base substitution G A upstream_gene_variant MELA-AU 2 27561833 27561833 single base substitution C T downstream_gene_variant MELA-AU 2 27561833 27561833 single base substitution C T intron_variant MELA-AU 2 27561833 27561833 single base substitution C T upstream_gene_variant MELA-AU 2 27563161 27563161 single base substitution G A downstream_gene_variant MELA-AU 2 27563161 27563161 single base substitution G A intron_variant MELA-AU 2 27563161 27563161 single base substitution G A upstream_gene_variant MELA-AU 2 27563568 27563568 single base substitution A G downstream_gene_variant MELA-AU 2 27563568 27563568 single base substitution A G intron_variant MELA-AU 2 27563568 27563568 single base substitution A G upstream_gene_variant MELA-AU 2 27563685 27563685 single base substitution G A downstream_gene_variant MELA-AU 2 27563685 27563685 single base substitution G A intron_variant MELA-AU 2 27563685 27563685 single base substitution G A upstream_gene_variant MELA-AU 2 27564092 27564092 single base substitution G A downstream_gene_variant MELA-AU 2 27564092 27564092 single base substitution G A intron_variant MELA-AU 2 27564092 27564092 single base substitution G A upstream_gene_variant MELA-AU 2 27564548 27564548 single base substitution A T downstream_gene_variant MELA-AU 2 27564548 27564548 single base substitution A T intron_variant MELA-AU 2 27564548 27564548 single base substitution A T upstream_gene_variant MELA-AU 2 27564683 27564683 single base substitution G A downstream_gene_variant MELA-AU 2 27564683 27564683 single base substitution G A intron_variant MELA-AU 2 27564683 27564683 single base substitution G A upstream_gene_variant MELA-AU 2 27564896 27564896 single base substitution T G downstream_gene_variant MELA-AU 2 27564896 27564896 single base substitution T G missense_variant E258D 774A>C MELA-AU 2 27564896 27564896 single base substitution T G upstream_gene_variant MELA-AU 2 27564999 27564999 single base substitution G A downstream_gene_variant MELA-AU 2 27564999 27564999 single base substitution G A missense_variant P224L 671C>T MELA-AU 2 27564999 27564999 single base substitution G A upstream_gene_variant MELA-AU 2 27565251 27565251 single base substitution G A downstream_gene_variant MELA-AU 2 27565251 27565251 single base substitution G A intron_variant MELA-AU 2 27565251 27565251 single base substitution G A upstream_gene_variant MELA-AU 2 27565262 27565262 single base substitution A T downstream_gene_variant MELA-AU 2 27565262 27565262 single base substitution A T intron_variant MELA-AU 2 27565262 27565262 single base substitution A T upstream_gene_variant MELA-AU 2 27565397 27565397 single base substitution G A downstream_gene_variant MELA-AU 2 27565397 27565397 single base substitution G A intron_variant MELA-AU 2 27565397 27565397 single base substitution G A upstream_gene_variant MELA-AU 2 27565500 27565500 single base substitution T C downstream_gene_variant MELA-AU 2 27565500 27565500 single base substitution T C intron_variant MELA-AU 2 27565500 27565500 single base substitution T C upstream_gene_variant MELA-AU 2 27565852 27565852 single base substitution G A downstream_gene_variant MELA-AU 2 27565852 27565852 single base substitution G A missense_variant T137I 410C>T MELA-AU 2 27565852 27565852 single base substitution G A upstream_gene_variant MELA-AU 2 27566051 27566051 single base substitution G A downstream_gene_variant MELA-AU 2 27566051 27566051 single base substitution G A intron_variant MELA-AU 2 27566051 27566051 single base substitution G A upstream_gene_variant MELA-AU 2 27566255 27566256 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P56F 166CC>TT MELA-AU 2 27567672 27567672 single base substitution G A intron_variant MELA-AU 2 27567762 27567762 single base substitution G A intron_variant MELA-AU 2 27567913 27567913 single base substitution G A intron_variant MELA-AU 2 27569142 27569142 single base substitution C T intron_variant MELA-AU 2 27569354 27569354 single base substitution G A intron_variant MELA-AU 2 27570197 27570197 single base substitution G A intron_variant MELA-AU 2 27570505 27570505 single base substitution G A intron_variant MELA-AU 2 27570760 27570760 single base substitution G A intron_variant MELA-AU 2 27570909 27570910 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 27570930 27570930 single base substitution G A intron_variant MELA-AU 2 27571113 27571113 single base substitution G A intron_variant MELA-AU 2 27571218 27571218 single base substitution G A intron_variant MELA-AU 2 27571328 27571328 single base substitution G A intron_variant MELA-AU 2 27571687 27571687 single base substitution T G intron_variant MELA-AU 2 27572095 27572095 single base substitution A G intron_variant MELA-AU 2 27573324 27573325 multiple base substitution (>=2bp and <=200bp) GT TG 5_prime_UTR_variant MELA-AU 2 27573324 27573325 multiple base substitution (>=2bp and <=200bp) GT TG intron_variant MELA-AU 2 27573398 27573398 single base substitution G A 5_prime_UTR_variant MELA-AU 2 27573398 27573398 single base substitution G A intron_variant MELA-AU 2 27573469 27573469 single base substitution T C 5_prime_UTR_variant MELA-AU 2 27573469 27573469 single base substitution T C intron_variant MELA-AU 2 27573642 27573642 single base substitution C T intron_variant MELA-AU 2 27573765 27573765 single base substitution G A intron_variant MELA-AU 2 27574324 27574324 single base substitution G A intron_variant MELA-AU 2 27574686 27574686 single base substitution G A intron_variant MELA-AU 2 27574703 27574703 single base substitution C T intron_variant MELA-AU 2 27575605 27575605 single base substitution T C intron_variant MELA-AU 2 27576183 27576183 single base substitution G A intron_variant MELA-AU 2 27576549 27576549 single base substitution A C intron_variant MELA-AU 2 27577204 27577204 single base substitution G A intron_variant MELA-AU 2 27577424 27577427 deletion of <=200bp CTAG - intron_variant MELA-AU 2 27579255 27579256 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 2 27579255 27579256 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 27579461 27579461 single base substitution G A intron_variant MELA-AU 2 27579461 27579461 single base substitution G A upstream_gene_variant MELA-AU 2 27579652 27579652 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 27579652 27579652 single base substitution C A upstream_gene_variant MELA-AU 2 27580648 27580648 single base substitution C T upstream_gene_variant MELA-AU 2 27580822 27580822 single base substitution C T upstream_gene_variant MELA-AU 2 27580854 27580854 single base substitution G A upstream_gene_variant MELA-AU 2 27582402 27582403 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 27583601 27583601 single base substitution C T upstream_gene_variant MELA-AU 2 27584626 27584626 single base substitution G C upstream_gene_variant ORCA-IN 2 27549651 27549651 single base substitution C T downstream_gene_variant ORCA-IN 2 27549651 27549651 single base substitution C T exon_variant ORCA-IN 2 27549651 27549651 single base substitution C T intron_variant ORCA-IN 2 27549651 27549651 single base substitution C T missense_variant R384H 1151G>A ORCA-IN 2 27549651 27549651 single base substitution C T missense_variant R876H 2627G>A ORCA-IN 2 27561526 27561526 single base substitution C A downstream_gene_variant ORCA-IN 2 27561526 27561526 single base substitution C A intron_variant ORCA-IN 2 27561526 27561526 single base substitution C A upstream_gene_variant ORCA-IN 2 27565011 27565011 single base substitution C A downstream_gene_variant ORCA-IN 2 27565011 27565011 single base substitution C A missense_variant S220I 659G>T ORCA-IN 2 27565011 27565011 single base substitution C A upstream_gene_variant ORCA-IN 2 27565942 27565942 single base substitution G T downstream_gene_variant ORCA-IN 2 27565942 27565942 single base substitution G T missense_variant T107K 320C>A ORCA-IN 2 27565942 27565942 single base substitution G T upstream_gene_variant OV-AU 2 27545956 27545956 single base substitution C A downstream_gene_variant OV-AU 2 27550180 27550180 single base substitution G C downstream_gene_variant OV-AU 2 27550180 27550180 single base substitution G C intron_variant OV-AU 2 27553696 27553696 single base substitution G C downstream_gene_variant OV-AU 2 27553696 27553696 single base substitution G C intron_variant OV-AU 2 27553696 27553696 single base substitution G C upstream_gene_variant OV-AU 2 27560440 27560440 single base substitution G A intron_variant OV-AU 2 27560440 27560440 single base substitution G A upstream_gene_variant OV-AU 2 27567045 27567045 single base substitution C A intron_variant OV-AU 2 27567046 27567046 single base substitution A G intron_variant OV-AU 2 27567067 27567067 single base substitution T C intron_variant OV-AU 2 27571932 27571932 single base substitution G C intron_variant OV-AU 2 27574196 27574196 single base substitution G A intron_variant OV-AU 2 27575824 27575824 single base substitution C G intron_variant OV-AU 2 27577611 27577611 single base substitution G A intron_variant OV-AU 2 27578087 27578087 single base substitution G A intron_variant PACA-AU 2 27546011 27546019 deletion of <=200bp CAGCCAGGA - downstream_gene_variant PACA-AU 2 27562715 27562715 single base substitution G A downstream_gene_variant PACA-AU 2 27562715 27562715 single base substitution G A intron_variant PACA-AU 2 27562715 27562715 single base substitution G A upstream_gene_variant PACA-AU 2 27570287 27570287 single base substitution C T intron_variant PACA-AU 2 27574976 27574977 deletion of <=200bp TG - intron_variant PACA-AU 2 27576359 27576359 single base substitution G A intron_variant PACA-AU 2 27576385 27576385 single base substitution T G intron_variant PACA-AU 2 27581603 27581603 insertion of <=200bp - ACCTCTCT upstream_gene_variant PACA-AU 2 27584648 27584648 single base substitution G A upstream_gene_variant PACA-CA 2 27544322 27544322 single base substitution G A downstream_gene_variant PACA-CA 2 27548112 27548112 single base substitution G T downstream_gene_variant PACA-CA 2 27548113 27548113 single base substitution C T downstream_gene_variant PACA-CA 2 27556195 27556195 single base substitution T G downstream_gene_variant PACA-CA 2 27556195 27556195 single base substitution T G intron_variant PACA-CA 2 27556195 27556195 single base substitution T G upstream_gene_variant PACA-CA 2 27556798 27556800 deletion of <=200bp AAG - downstream_gene_variant PACA-CA 2 27556798 27556800 deletion of <=200bp AAG - intron_variant PACA-CA 2 27556798 27556800 deletion of <=200bp AAG - upstream_gene_variant PACA-CA 2 27556807 27556807 single base substitution G T downstream_gene_variant PACA-CA 2 27556807 27556807 single base substitution G T intron_variant PACA-CA 2 27556807 27556807 single base substitution G T upstream_gene_variant PACA-CA 2 27560684 27560684 single base substitution G A intron_variant PACA-CA 2 27560684 27560684 single base substitution G A upstream_gene_variant PACA-CA 2 27563669 27563669 single base substitution A T downstream_gene_variant PACA-CA 2 27563669 27563669 single base substitution A T intron_variant PACA-CA 2 27563669 27563669 single base substitution A T upstream_gene_variant PACA-CA 2 27564543 27564543 single base substitution T C downstream_gene_variant PACA-CA 2 27564543 27564543 single base substitution T C intron_variant PACA-CA 2 27564543 27564543 single base substitution T C upstream_gene_variant PACA-CA 2 27565639 27565639 single base substitution C A downstream_gene_variant PACA-CA 2 27565639 27565639 single base substitution C A intron_variant PACA-CA 2 27565639 27565639 single base substitution C A upstream_gene_variant PACA-CA 2 27575916 27575916 deletion of <=200bp T - intron_variant PACA-CA 2 27580542 27580542 single base substitution G C upstream_gene_variant PACA-CA 2 27582367 27582367 single base substitution G T upstream_gene_variant PAEN-AU 2 27571326 27571326 single base substitution C A intron_variant PBCA-DE 2 27549205 27549205 single base substitution C T 3_prime_UTR_variant PBCA-DE 2 27549205 27549205 single base substitution C T downstream_gene_variant PBCA-DE 2 27549205 27549205 single base substitution C T intron_variant PBCA-DE 2 27553339 27553339 insertion of <=200bp - A intron_variant PBCA-DE 2 27553339 27553339 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 27559236 27559236 insertion of <=200bp - C exon_variant PBCA-DE 2 27559236 27559236 insertion of <=200bp - C frameshift_variant G395G? PBCA-DE 2 27559236 27559236 insertion of <=200bp - C upstream_gene_variant PBCA-DE 2 27559242 27559242 insertion of <=200bp - C exon_variant PBCA-DE 2 27559242 27559242 insertion of <=200bp - C frameshift_variant T393T? PBCA-DE 2 27559242 27559242 insertion of <=200bp - C upstream_gene_variant PBCA-DE 2 27563633 27563633 single base substitution G A downstream_gene_variant PBCA-DE 2 27563633 27563633 single base substitution G A intron_variant PBCA-DE 2 27563633 27563633 single base substitution G A upstream_gene_variant PBCA-DE 2 27573202 27573202 single base substitution G T 5_prime_UTR_variant PBCA-DE 2 27573202 27573202 single base substitution G T intron_variant PBCA-DE 2 27573671 27573671 single base substitution C A intron_variant PBCA-DE 2 27581629 27581629 insertion of <=200bp - CT upstream_gene_variant PBCA-DE 2 27582435 27582435 deletion of <=200bp G - upstream_gene_variant PRAD-CA 2 27545928 27545928 single base substitution G A downstream_gene_variant PRAD-CA 2 27560958 27560958 single base substitution T C downstream_gene_variant PRAD-CA 2 27560958 27560958 single base substitution T C exon_variant PRAD-CA 2 27560958 27560958 single base substitution T C intron_variant PRAD-CA 2 27560958 27560958 single base substitution T C upstream_gene_variant PRAD-CA 2 27564835 27564835 single base substitution G C downstream_gene_variant PRAD-CA 2 27564835 27564835 single base substitution G C missense_variant P279A 835C>G PRAD-CA 2 27564835 27564835 single base substitution G C upstream_gene_variant PRAD-CA 2 27565111 27565111 single base substitution G A downstream_gene_variant PRAD-CA 2 27565111 27565111 single base substitution G A intron_variant PRAD-CA 2 27565111 27565111 single base substitution G A upstream_gene_variant PRAD-CA 2 27580091 27580091 single base substitution C T upstream_gene_variant PRAD-UK 2 27547053 27547245 deletion of <=200bp AGCAAGAGAAGTCAATGTCACAAACATTTAACTAAAATGCTATTTGCAAAACAGCATGCTAGAGGAGTGAACTGACAAAAGTAAATGTAATAGGAGACCAAATGTGGTAGGCTGTAAAGTTATATTCTGAAGTTAGACTGAGTTCAAATCCCCAGCACCACCACTTACTAGTTATATGACCTTGACCTTTTAC - downstream_gene_variant PRAD-UK 2 27554760 27554760 single base substitution C A downstream_gene_variant PRAD-UK 2 27554760 27554760 single base substitution C A intron_variant PRAD-UK 2 27554760 27554760 single base substitution C A upstream_gene_variant PRAD-UK 2 27569062 27569062 single base substitution T A intron_variant PRAD-UK 2 27577468 27577468 deletion of <=200bp A - intron_variant PRAD-UK 2 27584288 27584288 single base substitution G A upstream_gene_variant READ-US 2 27564873 27564873 single base substitution C G downstream_gene_variant READ-US 2 27564873 27564873 single base substitution C G missense_variant S266T 797G>C READ-US 2 27564873 27564873 single base substitution C G upstream_gene_variant READ-US 2 27565858 27565858 single base substitution A C downstream_gene_variant READ-US 2 27565858 27565858 single base substitution A C missense_variant L135R 404T>G READ-US 2 27565858 27565858 single base substitution A C synonymous_variant ?135 READ-US 2 27565858 27565858 single base substitution A C upstream_gene_variant RECA-EU 2 27544548 27544548 single base substitution G T downstream_gene_variant RECA-EU 2 27552076 27552076 single base substitution T A exon_variant RECA-EU 2 27552076 27552076 single base substitution T A missense_variant N159Y 475A>T RECA-EU 2 27552076 27552076 single base substitution T A missense_variant N651Y 1951A>T RECA-EU 2 27552076 27552076 single base substitution T A upstream_gene_variant RECA-EU 2 27566738 27566738 single base substitution C T intron_variant SKCA-BR 2 27546976 27546976 single base substitution A C downstream_gene_variant SKCA-BR 2 27549594 27549594 single base substitution G A downstream_gene_variant SKCA-BR 2 27549594 27549594 single base substitution G A exon_variant SKCA-BR 2 27549594 27549594 single base substitution G A intron_variant SKCA-BR 2 27549594 27549594 single base substitution G A missense_variant T403I 1208C>T SKCA-BR 2 27549594 27549594 single base substitution G A missense_variant T895I 2684C>T SKCA-BR 2 27553316 27553316 single base substitution G A intron_variant SKCA-BR 2 27553316 27553316 single base substitution G A upstream_gene_variant SKCA-BR 2 27555576 27555576 single base substitution C T downstream_gene_variant SKCA-BR 2 27555576 27555576 single base substitution C T intron_variant SKCA-BR 2 27555576 27555576 single base substitution C T upstream_gene_variant SKCA-BR 2 27557437 27557437 single base substitution G A downstream_gene_variant SKCA-BR 2 27557437 27557437 single base substitution G A intron_variant SKCA-BR 2 27557438 27557438 single base substitution G A downstream_gene_variant SKCA-BR 2 27557438 27557438 single base substitution G A intron_variant SKCA-BR 2 27557645 27557645 single base substitution G A downstream_gene_variant SKCA-BR 2 27557645 27557645 single base substitution G A intron_variant SKCA-BR 2 27558756 27558756 single base substitution G A downstream_gene_variant SKCA-BR 2 27558756 27558756 single base substitution G A intron_variant SKCA-BR 2 27558756 27558756 single base substitution G A upstream_gene_variant SKCA-BR 2 27560328 27560328 single base substitution G A intron_variant SKCA-BR 2 27560328 27560328 single base substitution G A upstream_gene_variant SKCA-BR 2 27560931 27560931 single base substitution G A downstream_gene_variant SKCA-BR 2 27560931 27560931 single base substitution G A exon_variant SKCA-BR 2 27560931 27560931 single base substitution G A intron_variant SKCA-BR 2 27560931 27560931 single base substitution G A upstream_gene_variant SKCA-BR 2 27562291 27562291 single base substitution A G downstream_gene_variant SKCA-BR 2 27562291 27562291 single base substitution A G intron_variant SKCA-BR 2 27562291 27562291 single base substitution A G upstream_gene_variant SKCA-BR 2 27562853 27562855 deletion of <=200bp CAA - downstream_gene_variant SKCA-BR 2 27562853 27562855 deletion of <=200bp CAA - intron_variant SKCA-BR 2 27562853 27562855 deletion of <=200bp CAA - upstream_gene_variant SKCA-BR 2 27566705 27566705 single base substitution G A intron_variant SKCA-BR 2 27570658 27570658 single base substitution A G intron_variant SKCA-BR 2 27572006 27572012 deletion of <=200bp ATTTGAT - intron_variant SKCA-BR 2 27572181 27572181 single base substitution A T intron_variant SKCA-BR 2 27574300 27574300 single base substitution A T intron_variant SKCA-BR 2 27578387 27578387 insertion of <=200bp - CA intron_variant SKCA-BR 2 27582035 27582035 single base substitution A G upstream_gene_variant SKCA-BR 2 27582518 27582518 single base substitution T C upstream_gene_variant SKCA-BR 2 27583131 27583131 single base substitution T A upstream_gene_variant SKCA-BR 2 27583160 27583161 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 2 27584342 27584345 deletion of <=200bp TTTG - upstream_gene_variant SKCA-BR 2 27584345 27584345 single base substitution G T upstream_gene_variant SKCA-BR 2 27584349 27584349 single base substitution G T upstream_gene_variant SKCM-US 2 27549689 27549689 single base substitution G T downstream_gene_variant SKCM-US 2 27549689 27549689 single base substitution G T exon_variant SKCM-US 2 27549689 27549689 single base substitution G T intron_variant SKCM-US 2 27549689 27549689 single base substitution G T synonymous_variant I371I 1113C>A SKCM-US 2 27549689 27549689 single base substitution G T synonymous_variant I863I 2589C>A SKCM-US 2 27550131 27550131 single base substitution G A 3_prime_UTR_variant SKCM-US 2 27550131 27550131 single base substitution G A downstream_gene_variant SKCM-US 2 27550131 27550131 single base substitution G A exon_variant SKCM-US 2 27550131 27550131 single base substitution G A synonymous_variant L103L 309C>T SKCM-US 2 27550131 27550131 single base substitution G A synonymous_variant L24L 72C>T SKCM-US 2 27550131 27550131 single base substitution G A synonymous_variant L318L 954C>T SKCM-US 2 27550131 27550131 single base substitution G A synonymous_variant L810L 2430C>T SKCM-US 2 27552031 27552031 single base substitution G A exon_variant SKCM-US 2 27552031 27552031 single base substitution G A missense_variant P174S 520C>T SKCM-US 2 27552031 27552031 single base substitution G A missense_variant P666S 1996C>T SKCM-US 2 27552031 27552031 single base substitution G A upstream_gene_variant SKCM-US 2 27552058 27552058 single base substitution A C exon_variant SKCM-US 2 27552058 27552058 single base substitution A C missense_variant L165V 493T>G SKCM-US 2 27552058 27552058 single base substitution A C missense_variant L657V 1969T>G SKCM-US 2 27552058 27552058 single base substitution A C upstream_gene_variant SKCM-US 2 27552100 27552100 single base substitution G A exon_variant SKCM-US 2 27552100 27552100 single base substitution G A missense_variant L151F 451C>T SKCM-US 2 27552100 27552100 single base substitution G A missense_variant L643F 1927C>T SKCM-US 2 27552100 27552100 single base substitution G A upstream_gene_variant SKCM-US 2 27552143 27552143 single base substitution G A exon_variant SKCM-US 2 27552143 27552143 single base substitution G A synonymous_variant F136F 408C>T SKCM-US 2 27552143 27552143 single base substitution G A synonymous_variant F628F 1884C>T SKCM-US 2 27552143 27552143 single base substitution G A upstream_gene_variant SKCM-US 2 27558560 27558560 single base substitution G A downstream_gene_variant SKCM-US 2 27558560 27558560 single base substitution G A exon_variant SKCM-US 2 27558560 27558560 single base substitution G A missense_variant P494L 1481C>T SKCM-US 2 27558560 27558560 single base substitution G A upstream_gene_variant SKCM-US 2 27559164 27559164 single base substitution G A downstream_gene_variant SKCM-US 2 27559164 27559164 single base substitution G A exon_variant SKCM-US 2 27559164 27559164 single base substitution G A missense_variant S419F 1256C>T SKCM-US 2 27559164 27559164 single base substitution G A upstream_gene_variant SKCM-US 2 27560379 27560379 single base substitution A C exon_variant SKCM-US 2 27560379 27560379 single base substitution A C missense_variant L333V 997T>G SKCM-US 2 27560379 27560379 single base substitution A C upstream_gene_variant SKCM-US 2 27560827 27560827 single base substitution G A exon_variant SKCM-US 2 27560827 27560827 single base substitution G A missense_variant P306S 916C>T SKCM-US 2 27560827 27560827 single base substitution G A upstream_gene_variant SKCM-US 2 27565723 27565723 single base substitution C T downstream_gene_variant SKCM-US 2 27565723 27565723 single base substitution C T missense_variant G180E 539G>A SKCM-US 2 27565723 27565723 single base substitution C T upstream_gene_variant SKCM-US 2 27565843 27565843 single base substitution G A downstream_gene_variant SKCM-US 2 27565843 27565843 single base substitution G A missense_variant P140L 419C>T SKCM-US 2 27565843 27565843 single base substitution G A upstream_gene_variant SKCM-US 2 27566214 27566214 single base substitution G A missense_variant P70S 208C>T STAD-US 2 27552352 27552352 deletion of <=200bp G - frameshift_variant L591 STAD-US 2 27552352 27552352 deletion of <=200bp G - frameshift_variant L99 STAD-US 2 27552352 27552352 deletion of <=200bp G - upstream_gene_variant STAD-US 2 27558811 27558811 single base substitution T A downstream_gene_variant STAD-US 2 27558811 27558811 single base substitution T A exon_variant STAD-US 2 27558811 27558811 single base substitution T A synonymous_variant A480A 1440A>T STAD-US 2 27558811 27558811 single base substitution T A upstream_gene_variant STAD-US 2 27558815 27558815 single base substitution C T downstream_gene_variant STAD-US 2 27558815 27558815 single base substitution C T exon_variant STAD-US 2 27558815 27558815 single base substitution C T missense_variant G479E 1436G>A STAD-US 2 27558815 27558815 single base substitution C T upstream_gene_variant STAD-US 2 27559092 27559092 insertion of <=200bp - C downstream_gene_variant STAD-US 2 27559092 27559092 insertion of <=200bp - C exon_variant STAD-US 2 27559092 27559092 insertion of <=200bp - C frameshift_variant G443G? STAD-US 2 27559092 27559092 insertion of <=200bp - C upstream_gene_variant STAD-US 2 27560373 27560373 single base substitution A G exon_variant STAD-US 2 27560373 27560373 single base substitution A G missense_variant W335R 1003T>C STAD-US 2 27560373 27560373 single base substitution A G upstream_gene_variant STAD-US 2 27560869 27560869 single base substitution G A downstream_gene_variant STAD-US 2 27560869 27560869 single base substitution G A exon_variant STAD-US 2 27560869 27560869 single base substitution G A stop_gained R292* 874C>T STAD-US 2 27560869 27560869 single base substitution G A upstream_gene_variant STAD-US 2 27560874 27560874 single base substitution T C downstream_gene_variant STAD-US 2 27560874 27560874 single base substitution T C exon_variant STAD-US 2 27560874 27560874 single base substitution T C missense_variant H290R 869A>G STAD-US 2 27560874 27560874 single base substitution T C upstream_gene_variant STAD-US 2 27565017 27565017 single base substitution A G downstream_gene_variant STAD-US 2 27565017 27565017 single base substitution A G missense_variant V218A 653T>C STAD-US 2 27565017 27565017 single base substitution A G upstream_gene_variant STAD-US 2 27565828 27565828 single base substitution C T downstream_gene_variant STAD-US 2 27565828 27565828 single base substitution C T missense_variant R145Q 434G>A STAD-US 2 27565828 27565828 single base substitution C T upstream_gene_variant STAD-US 2 27566374 27566374 single base substitution G A synonymous_variant P16P 48C>T STAD-US 2 27566379 27566379 single base substitution C T missense_variant G15S 43G>A THCA-SA 2 27550967 27550967 single base substitution A G 3_prime_UTR_variant THCA-SA 2 27550967 27550967 single base substitution A G downstream_gene_variant THCA-SA 2 27550967 27550967 single base substitution A G exon_variant THCA-SA 2 27550967 27550967 single base substitution A G synonymous_variant P290P 870T>C THCA-SA 2 27550967 27550967 single base substitution A G synonymous_variant P75P 225T>C THCA-SA 2 27550967 27550967 single base substitution A G synonymous_variant P782P 2346T>C THCA-SA 2 27550967 27550967 single base substitution A G upstream_gene_variant UCEC-US 2 27549522 27549522 single base substitution G T 3_prime_UTR_variant UCEC-US 2 27549522 27549522 single base substitution G T downstream_gene_variant UCEC-US 2 27549522 27549522 single base substitution G T exon_variant UCEC-US 2 27549522 27549522 single base substitution G T intron_variant UCEC-US 2 27549522 27549522 single base substitution G T synonymous_variant S76S 228C>A UCEC-US 2 27549588 27549588 single base substitution C T downstream_gene_variant UCEC-US 2 27549588 27549588 single base substitution C T exon_variant UCEC-US 2 27549588 27549588 single base substitution C T intron_variant UCEC-US 2 27549588 27549588 single base substitution C T missense_variant R405Q 1214G>A UCEC-US 2 27549588 27549588 single base substitution C T missense_variant R897Q 2690G>A UCEC-US 2 27549588 27549588 single base substitution C T splice_region_variant UCEC-US 2 27549629 27549629 single base substitution G A downstream_gene_variant UCEC-US 2 27549629 27549629 single base substitution G A exon_variant UCEC-US 2 27549629 27549629 single base substitution G A intron_variant UCEC-US 2 27549629 27549629 single base substitution G A synonymous_variant A391A 1173C>T UCEC-US 2 27549629 27549629 single base substitution G A synonymous_variant A883A 2649C>T UCEC-US 2 27550095 27550095 single base substitution C A 3_prime_UTR_variant UCEC-US 2 27550095 27550095 single base substitution C A downstream_gene_variant UCEC-US 2 27550095 27550095 single base substitution C A exon_variant UCEC-US 2 27550095 27550095 single base substitution C A missense_variant E115D 345G>T UCEC-US 2 27550095 27550095 single base substitution C A missense_variant E330D 990G>T UCEC-US 2 27550095 27550095 single base substitution C A missense_variant E36D 108G>T UCEC-US 2 27550095 27550095 single base substitution C A missense_variant E822D 2466G>T UCEC-US 2 27550142 27550155 deletion of <=200bp GGAATGAACCCTGG - downstream_gene_variant UCEC-US 2 27550142 27550155 deletion of <=200bp GGAATGAACCCTGG - frameshift_variant LGSFH18 UCEC-US 2 27550142 27550155 deletion of <=200bp GGAATGAACCCTGG - frameshift_variant LGSFH312 UCEC-US 2 27550142 27550155 deletion of <=200bp GGAATGAACCCTGG - frameshift_variant LGSFH804 UCEC-US 2 27550142 27550155 deletion of <=200bp GGAATGAACCCTGG - frameshift_variant LGSFH97 UCEC-US 2 27550142 27550155 deletion of <=200bp GGAATGAACCCTGG - splice_acceptor_variant UCEC-US 2 27551331 27551331 single base substitution G A exon_variant UCEC-US 2 27551331 27551331 single base substitution G A splice_region_variant UCEC-US 2 27551331 27551331 single base substitution G A upstream_gene_variant UCEC-US 2 27552085 27552085 single base substitution C T exon_variant UCEC-US 2 27552085 27552085 single base substitution C T missense_variant E156K 466G>A UCEC-US 2 27552085 27552085 single base substitution C T missense_variant E648K 1942G>A UCEC-US 2 27552085 27552085 single base substitution C T upstream_gene_variant UCEC-US 2 27552096 27552096 single base substitution C T exon_variant UCEC-US 2 27552096 27552096 single base substitution C T missense_variant R152Q 455G>A UCEC-US 2 27552096 27552096 single base substitution C T missense_variant R644Q 1931G>A UCEC-US 2 27552096 27552096 single base substitution C T upstream_gene_variant UCEC-US 2 27560155 27560155 single base substitution T C exon_variant UCEC-US 2 27560155 27560155 single base substitution T C synonymous_variant Q361Q 1083A>G UCEC-US 2 27560155 27560155 single base substitution T C upstream_gene_variant UCEC-US 2 27560872 27560872 single base substitution A G downstream_gene_variant UCEC-US 2 27560872 27560872 single base substitution A G exon_variant UCEC-US 2 27560872 27560872 single base substitution A G missense_variant C291R 871T>C UCEC-US 2 27560872 27560872 single base substitution A G upstream_gene_variant UCEC-US 2 27564948 27564948 single base substitution C T downstream_gene_variant UCEC-US 2 27564948 27564948 single base substitution C T missense_variant G241D 722G>A UCEC-US 2 27564948 27564948 single base substitution C T upstream_gene_variant UCEC-US 2 27565762 27565762 single base substitution G T downstream_gene_variant UCEC-US 2 27565762 27565762 single base substitution G T missense_variant S167Y 500C>A UCEC-US 2 27565762 27565762 single base substitution G T upstream_gene_variant UCEC-US 2 27565835 27565835 single base substitution G A downstream_gene_variant UCEC-US 2 27565835 27565835 single base substitution G A stop_gained R143* 427C>T UCEC-US 2 27565835 27565835 single base substitution G A upstream_gene_variant UCEC-US 2 27565940 27565940 single base substitution G A downstream_gene_variant UCEC-US 2 27565940 27565940 single base substitution G A stop_gained R108* 322C>T UCEC-US 2 27565940 27565940 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-46-3769-01 COSM721437 c.1790C>G p.S597C Substitution - Missense 2:27329466-27329466 - TCGA-HC-7075-01 COSM3673683 c.750C>A p.L250L Substitution - coding silent 2:27342053-27342053 - TCGA-HU-A4H3-01 COSM4093547 c.869A>G p.H290R Substitution - Missense 2:27338007-27338007 - TCGA-B5-A11E-01 COSM1019637 c.2649C>T p.A883A Substitution - coding silent 2:27326762-27326762 - SNUH_G76_S1 COSM4418168 c.514C>G p.P172A Substitution - Missense 2:27342881-27342881 - TCGA-CU-A0YN-01 COSM266647 c.2283G>A p.P761P Substitution - coding silent 2:27328163-27328163 - H1155 COSM1195377 c.730C>T p.R244W Substitution - Missense 2:27342073-27342073 - T3090 COSM4689192 c.1317C>T p.L439L Substitution - coding silent 2:27336236-27336236 - TCGA-B5-A11E-01 COSM1019650 c.427C>T p.R143* Substitution - Nonsense 2:27342968-27342968 - S02120 COSM5673649 c.1676G>T p.S559I Substitution - Missense 2:27333711-27333711 - TCGA-BC-4073-01 COSM4936954 c.1996C>G p.P666A Substitution - Missense 2:27329164-27329164 - TCGA-GN-A266-06 COSM3580609 c.916C>T p.P306S Substitution - Missense 2:27337960-27337960 - TCGA-D5-6898-01 COSM1407422 c.1963C>T p.R655C Substitution - Missense 2:27329197-27329197 - ESCC_BICR_040T COSM5430071 c.861G>A p.Q287Q Substitution - coding silent 2:27338015-27338015 - TCGA-BK-A0C9-01 COSM1019644 c.1276A>G p.T426A Substitution - Missense 2:27336277-27336277 - EV005-R3 COSM4410705 c.708_709insA p.E237fs*10 Insertion - Frameshift 2:27342094-27342095 - TCGA-B5-A0JR-01 COSM1019643 c.1280A>G p.H427R Substitution - Missense 2:27336273-27336273 - TCGA-EE-A3AE-06 COSM3580605 c.1927C>T p.L643F Substitution - Missense 2:27329233-27329233 - TCGA-D9-A6EC-06 COSM4403882 c.997T>G p.L333V Substitution - Missense 2:27337512-27337512 - TCGA-EE-A180-06 COSM3580607 c.1481C>T p.P494L Substitution - Missense 2:27335693-27335693 - CHC1081T COSM4791193 c.1231G>A p.A411T Substitution - Missense 2:27336322-27336322 - TCGA-ER-A19S-06 COSM3580610 c.539G>A p.G180E Substitution - Missense 2:27342856-27342856 - PT51 COSM5937999 c.395C>T p.S132F Substitution - Missense 2:27343000-27343000 - HCC130T COSM3709595 c.319A>G p.T107A Substitution - Missense 2:27343076-27343076 - CHC322T COSM3668967 c.2373C>T p.V791V Substitution - coding silent 2:27328073-27328073 - SKNEP1 COSM2939842 c.2732C>T p.P911L Substitution - Missense 2:27326679-27326679 - TCGA-EB-A431-01 COSM3580612 c.208C>T p.P70S Substitution - Missense 2:27343347-27343347 - TCGA-A8-A0A6-01 COSM3839277 c.1693A>C p.T565P Substitution - Missense 2:27333694-27333694 - ccRCC-59 COSM1659748 c.1404C>T p.G468G Substitution - coding silent 2:27335980-27335980 - CRC-02T COSM5455067 c.2178C>T p.S726S Substitution - coding silent 2:27328546-27328546 - SJHGG118_A COSM4972017 c.741C>G p.D247E Substitution - Missense 2:27342062-27342062 - TCGA-D3-A1Q4-06 COSM3580606 c.1884C>T p.F628F Substitution - coding silent 2:27329276-27329276 - TCGA-BH-A18G-01 COSM3839276 c.1774C>T p.Q592* Substitution - Nonsense 2:27329482-27329482 - TCGA-G2-A3VY-01 COSM3798907 c.1256C>G p.S419C Substitution - Missense 2:27336297-27336297 - Pat_06_B COSM5862326 c.2568delG p.Q857fs*>55 Deletion - Frameshift 2:27326843-27326843 - TCGA-IR-A3LA-01 COSM4845280 c.1127+10G>T p.? Unknown 2:27337234-27337234 - TCGA-A5-A0G9-01 COSM1019647 c.871T>C p.C291R Substitution - Missense 2:27338005-27338005 - TCGA-AA-3672-01 COSM266647 c.2283G>A p.P761P Substitution - coding silent 2:27328163-27328163 - TCGA-BR-4201-01 COSM4093550 c.48C>T p.P16P Substitution - coding silent 2:27343507-27343507 - TCGA-ER-A19P-06 COSM3580611 c.419C>T p.P140L Substitution - Missense 2:27342976-27342976 - ESCC_134 COSM5649862 c.1235C>G p.S412W Substitution - Missense 2:27336318-27336318 - LUAD-5V8LT COSM401940 c.1188G>A p.P396P Substitution - coding silent 2:27336365-27336365 - TCGA-21-1070-01 COSM721433 c.349C>A p.P117T Substitution - Missense 2:27343046-27343046 - EV005-R7 COSM4410705 c.708_709insA p.E237fs*10 Insertion - Frameshift 2:27342094-27342095 - CHC322T COSM3668967 c.2373C>T p.V791V Substitution - coding silent 2:27328073-27328073 - EV005-R4 COSM4410705 c.708_709insA p.E237fs*10 Insertion - Frameshift 2:27342094-27342095 - ESOSCC164T COSM1172864 c.709G>C p.E237Q Substitution - Missense 2:27342094-27342094 - OSCC-GB_00880111 COSM4888051 c.320C>A p.T107K Substitution - Missense 2:27343075-27343075 - pfg043T COSM4751673 c.1018T>G p.L340V Substitution - Missense 2:27337491-27337491 - TCGA-D1-A16D-01 COSM1019639 c.2410-4_2419delCCAGGGTTCATTCC p.? Unknown 2:27327275-27327288 - ME100L COSM231539 c.2006_2008delGTG p.G669delG Deletion - In frame 2:27329152-27329154 - ESCC_101 COSM5637947 c.2425C>T p.L809L Substitution - coding silent 2:27327269-27327269 - H1155 COSM1195380 c.1226C>T p.A409V Substitution - Missense 2:27336327-27336327 - SNU-175 COSM2939848 c.2321C>T p.A774V Substitution - Missense 2:27328125-27328125 - CSCC-31-T COSM4527318 c.1455C>A p.G485G Substitution - coding silent 2:27335929-27335929 - SJMB034 COSM255945 c.2256+5G>A p.? Unknown 2:27328463-27328463 - TCGA-AX-A0J0-01 COSM1019641 c.1942G>A p.E648K Substitution - Missense 2:27329218-27329218 - TCGA-B9-4113-01 COSM3991251 c.342C>A p.P114P Substitution - coding silent 2:27343053-27343053 - ICGC_MB6 COSM306825 c.1179_1185GGGGGGA>GGGGGGGA p.T393fs Complex 2:27336368-27336374 - SJHGG085_D COSM4971490 c.624_625insCCTGTGT p.P213fs*4 Insertion - Frameshift 2:27342178-27342179 - TCGA-BR-6452-01 COSM4093545 c.1003T>C p.W335R Substitution - Missense 2:27337506-27337506 - TCGA-AK-3465-01 COSM1494924 c.1130T>C p.F377S Substitution - Missense 2:27336423-27336423 - PT08_2 COSM5889706 c.1029-7C>T p.? Unknown 2:27337349-27337349 - TCGA-09-2053-01 COSM71002 c.1784G>A p.R595Q Substitution - Missense 2:27329472-27329472 - ESCC_68 COSM5633934 c.2349G>C p.K783N Substitution - Missense 2:27328097-27328097 - TCGA-EK-A3GK-01 COSM4852690 c.2068G>C p.D690H Substitution - Missense 2:27328903-27328903 - MU_22 COSM5967081 c.1698delG p.R566fs*6 Deletion - Frameshift 2:27333689-27333689 - TCGA-CM-6165-01 COSM1407426 c.219G>A p.Q73Q Substitution - coding silent 2:27343336-27343336 - ESCC-127T COSM3939052 c.2559A>G p.V853V Substitution - coding silent 2:27326852-27326852 - OSCC-GB_01070111 COSM1407421 c.2627G>A p.R876H Substitution - Missense 2:27326784-27326784 - TCGA-AP-A0LM-01 COSM1019645 c.1083A>G p.Q361Q Substitution - coding silent 2:27337288-27337288 - SJMB034 COSM255945 c.2256+5G>A p.? Unknown 2:27328463-27328463 - BD121T COSM5514843 c.1137G>A p.S379S Substitution - coding silent 2:27336416-27336416 - 1946219 COSM1197505 c.145G>A p.V49I Substitution - Missense 2:27343410-27343410 - TCGA-85-6560-01 COSM721434 c.1053G>T p.Q351H Substitution - Missense 2:27337318-27337318 - TCGA-BG-A0LX-01 COSM1019646 c.1050C>A p.P350P Substitution - coding silent 2:27337321-27337321 - ICGC_MB6 COSM215873 c.1178_1179insG p.P396fs*27 Insertion - Frameshift 2:27336374-27336375 - TCGA-EP-A2KB-01 COSM4921405 c.2502G>T p.L834L Substitution - coding silent 2:27327192-27327192 - CSCC-27-T COSM4093550 c.48C>T p.P16P Substitution - coding silent 2:27343507-27343507 - TCGA-BR-8372-01 COSM4093543 c.1440A>T p.A480A Substitution - coding silent 2:27335944-27335944 - NCI-ADR-RES COSM1683841 c.204_223del20 p.L69fs*20 Deletion - Frameshift 2:27343332-27343351 - Pat_32_A COSM5862327 c.1328delG p.G443fs*86 Deletion - Frameshift 2:27336225-27336225 - S01020 COSM5665125 c.1652C>T p.P551L Substitution - Missense 2:27333735-27333735 - YUKLAB COSM1690327 c.1573C>T p.P525S Substitution - Missense 2:27335601-27335601 - TCGA-BR-7707-01 COSM4093551 c.43G>A p.G15S Substitution - Missense 2:27343512-27343512 - EV005-R5 COSM4410705 c.708_709insA p.E237fs*10 Insertion - Frameshift 2:27342094-27342095 - 3P3 COSM3733937 c.1155G>C p.E385D Substitution - Missense 2:27336398-27336398 - CSCC-32-T COSM4568397 c.1131T>C p.F377F Substitution - coding silent 2:27336422-27336422 - TCGA-DK-A2I4-01 COSM3798906 c.2455C>A p.Q819K Substitution - Missense 2:27327239-27327239 - BD49T COSM5497612 c.2600G>A p.R867H Substitution - Missense 2:27326811-27326811 - TCGA-AP-A0LM-01 COSM1019649 c.500C>A p.S167Y Substitution - Missense 2:27342895-27342895 - Pat_58_B COSM5862328 c.917C>T p.P306L Substitution - Missense 2:27337959-27337959 - TCGA-EI-7002-01 COSM3749652 c.797G>C p.S266T Substitution - Missense 2:27342006-27342006 - CSCC-6-T COSM4483478 c.2705C>A p.P902Q Substitution - Missense 2:27326706-27326706 - TCGA-FP-A4BE-01 COSM4093544 c.1436G>A p.G479E Substitution - Missense 2:27335948-27335948 - TCGA-C5-A1BL-01 COSM4837060 c.362C>A p.S121* Substitution - Nonsense 2:27343033-27343033 - LUAD-RT-S01699 COSM378289 c.879A>G p.G293G Substitution - coding silent 2:27337997-27337997 - TCGA-EE-A2MC-06 COSM3580603 c.2430C>T p.L810L Substitution - coding silent 2:27327264-27327264 - YURAY COSM5396800 c.2049C>T p.L683L Substitution - coding silent 2:27328922-27328922 - Capan-1 COSM328094 c.1877+9T>A p.? Unknown 2:27329370-27329370 - T578 COSM4689190 c.2123T>C p.V708A Substitution - Missense 2:27328848-27328848 - HCC020T COSM5809167 c.1267A>T p.M423L Substitution - Missense 2:27336286-27336286 - 585208 COSM325463 c.813G>T p.E271D Substitution - Missense 2:27341990-27341990 - TCGA-AO-A128-01 COSM3839278 c.1202A>T p.D401V Substitution - Missense 2:27336351-27336351 - TCGA-CJ-5672-01 COSM477268 c.470C>T p.S157L Substitution - Missense 2:27342925-27342925 - WA17 COSM240058 c.126G>A p.M42I Substitution - Missense 2:27343429-27343429 - sysucc-880T COSM2939869 c.433C>T p.R145* Substitution - Nonsense 2:27342962-27342962 - SS6003121 COSM3981886 c.1606C>G p.Q536E Substitution - Missense 2:27333781-27333781 - CPCG0369-F1 COSM4881087 c.835C>G p.P279A Substitution - Missense 2:27341968-27341968 - TCGA-B5-A11E-01 COSM1019648 c.722G>A p.G241D Substitution - Missense 2:27342081-27342081 - MOLT-4 COSM1019650 c.427C>T p.R143* Substitution - Nonsense 2:27342968-27342968 - RK080_C01 COSM1631953 c.569+10G>T p.? Unknown 2:27342816-27342816 - TCGA-18-3409-01 COSM721432 c.13G>T p.G5W Substitution - Missense 2:27343542-27343542 - 405 COSM4430062 c.826C>T p.R276* Substitution - Nonsense 2:27341977-27341977 - S02209 COSM5675301 c.2402C>G p.T801R Substitution - Missense 2:27328044-27328044 - RK090_C01 COSM3702175 c.1815C>T p.P605P Substitution - coding silent 2:27329441-27329441 - TCGA-AA-A02F-01 COSM300654 c.495T>A p.S165S Substitution - coding silent 2:27342900-27342900 - BCM257T COSM4951550 c.1850G>A p.R617H Substitution - Missense 2:27329406-27329406 - SNU-175 COSM1195377 c.730C>T p.R244W Substitution - Missense 2:27342073-27342073 - TCGA-DC-6681-01 COSM1565613 c.404T>G p.L135R Substitution - Missense 2:27342991-27342991 - WA49 COSM184385 c.1036G>A p.A346T Substitution - Missense 2:27337335-27337335 - TCGA-D9-A6EC-06 COSM4405909 c.1969T>G p.L657V Substitution - Missense 2:27329191-27329191 - SJHGG034_D COSM4970400 c.1035C>T p.A345A Substitution - coding silent 2:27337336-27337336 - TCGA-CD-A4MG-01 COSM4093546 c.874C>T p.R292* Substitution - Nonsense 2:27338002-27338002 - TCGA-D7-A4YV-01 COSM4093548 c.653T>C p.V218A Substitution - Missense 2:27342150-27342150 - GC5_T COSM3748734 c.546A>C p.R182R Substitution - coding silent 2:27342849-27342849 - TCGA-AA-3492-01 COSM1407425 c.1682C>A p.A561D Substitution - Missense 2:27333705-27333705 - ESCC_136 COSM5643030 c.2409+1G>T p.? Unknown 2:27328036-27328036 - TCGA-A5-A0GH-01 COSM1019636 c.2690G>A p.R897Q Substitution - Missense 2:27326721-27326721 - LUAD_E00522 COSM266647 c.2283G>A p.P761P Substitution - coding silent 2:27328163-27328163 - TCGA-AP-A0LM-01 COSM1019642 c.1931G>A p.R644Q Substitution - Missense 2:27329229-27329229 - XHDG04 COSM4768022 c.2476C>T p.Q826* Substitution - Nonsense 2:27327218-27327218 - ATL053 COSM5708176 c.1625A>G p.Q542R Substitution - Missense 2:27333762-27333762 - TCGA-AD-6964-01 COSM1407421 c.2627G>A p.R876H Substitution - Missense 2:27326784-27326784 - TCGA-D1-A17F-01 COSM1019651 c.334A>C p.K112Q Substitution - Missense 2:27343061-27343061 - SNU-C2B COSM2939845 c.2449C>T p.R817C Substitution - Missense 2:27327245-27327245 - T3658 COSM4689191 c.1917A>C p.K639N Substitution - Missense 2:27329243-27329243 - SWE-1C COSM1179368 c.1317C>G p.L439L Substitution - coding silent 2:27336236-27336236 - 24T COSM109676 c.1788C>T p.L596L Substitution - coding silent 2:27329468-27329468 - TCGA-EE-A3JI-06 COSM3580602 c.2589C>A p.I863I Substitution - coding silent 2:27326822-27326822 - CHC1081T COSM4791193 c.1231G>A p.A411T Substitution - Missense 2:27336322-27336322 - HF-23896 COSM1197505 c.145G>A p.V49I Substitution - Missense 2:27343410-27343410 - CDGLIV0609A0138_T COSM5041686 c.2198T>A p.I733K Substitution - Missense 2:27328526-27328526 - 49M COSM2939866 c.815C>T p.P272L Substitution - Missense 2:27341988-27341988 - 3T COSM3733937 c.1155G>C p.E385D Substitution - Missense 2:27336398-27336398 - T368 COSM4689189 c.2607C>T p.L869L Substitution - coding silent 2:27326804-27326804 - T7 COSM5618511 c.2626C>T p.R876C Substitution - Missense 2:27326785-27326785 - TCGA-A2-A25D-01 COSM1483033 c.2122G>A p.V708I Substitution - Missense 2:27328849-27328849 - SS6003305 COSM3414223 c.1265A>C p.D422A Substitution - Missense 2:27336288-27336288 - TCGA-AA-A010-01 COSM281584 c.2073T>G p.A691A Substitution - coding silent 2:27328898-27328898 - SJBALL264_D COSM3580606 c.1884C>T p.F628F Substitution - coding silent 2:27329276-27329276 - TCGA-IR-A3LA-01 COSM4845233 c.116C>G p.S39C Substitution - Missense 2:27343439-27343439 - 2521262 COSM5891665 c.248-8C>T p.? Unknown 2:27343155-27343155 - SS6003306 COSM3414223 c.1265A>C p.D422A Substitution - Missense 2:27336288-27336288 - T2766 COSM4689188 c.2645G>A p.R882Q Substitution - Missense 2:27326766-27326766 - EV005-R1 COSM4410705 c.708_709insA p.E237fs*10 Insertion - Frameshift 2:27342094-27342095 - 587238 COSM1209175 c.1468G>A p.A490T Substitution - Missense 2:27335706-27335706 - TCGA-DK-A1A3-01 COSM418756 c.103G>A p.D35N Substitution - Missense 2:27343452-27343452 - HCC130 COSM3709595 c.319A>G p.T107A Substitution - Missense 2:27343076-27343076 - pfg054T COSM4751672 c.1117C>T p.R373* Substitution - Nonsense 2:27337254-27337254 - ESCC_11 COSM5624427 c.1179G>A p.T393T Substitution - coding silent 2:27336374-27336374 - 2492729 COSM5726211 c.444G>A p.K148K Substitution - coding silent 2:27342951-27342951 - 40M COSM5585386 c.376C>T p.P126S Substitution - Missense 2:27343019-27343019 - TCGA-DD-A73G-01 COSM4941238 c.1136C>T p.S379L Substitution - Missense 2:27336417-27336417 - TCGA-FP-A4BE-01 COSM4093549 c.434G>A p.R145Q Substitution - Missense 2:27342961-27342961 - EV005-R2 COSM4410705 c.708_709insA p.E237fs*10 Insertion - Frameshift 2:27342094-27342095 - OSCC-GB_00610111 COSM4886832 c.659G>T p.S220I Substitution - Missense 2:27342144-27342144 - TCGA-EE-A29E-06 COSM3580604 c.1996C>T p.P666S Substitution - Missense 2:27329164-27329164 - TCGA-B5-A11E-01 COSM1019652 c.322C>T p.R108* Substitution - Nonsense 2:27343073-27343073 - ICGC_MB6 COSM306825 c.1179_1185GGGGGGA>GGGGGGGA p.T393fs Complex 2:27336368-27336374 - TCGA-AC-A23H-01 COSM3839275 c.2287C>T p.Q763* Substitution - Nonsense 2:27328159-27328159 - TCGA-EE-A2GO-06 COSM3580608 c.1256C>T p.S419F Substitution - Missense 2:27336297-27336297 - TCGA-AP-A059-01 COSM1019638 c.2466G>T p.E822D Substitution - Missense 2:27327228-27327228 - PT13 COSM2939843 c.2644C>T p.R882* Substitution - Nonsense 2:27326767-27326767 - BD124T COSM1195377 c.730C>T p.R244W Substitution - Missense 2:27342073-27342073 - 2521259 COSM5889706 c.1029-7C>T p.? Unknown 2:27337349-27337349 - YUAKER COSM1690328 c.343C>T p.Q115* Substitution - Nonsense 2:27343052-27343052 - Pat_58_A COSM5862328 c.917C>T p.P306L Substitution - Missense 2:27337959-27337959 - BCM257T COSM4951550 c.1850G>A p.R617H Substitution - Missense 2:27329406-27329406 - TCGA-AP-A056-01 COSM1019640 c.2256+4C>T p.? Unknown 2:27328464-27328464 - C086 COSM5532111 c.228C>T p.L76L Substitution - coding silent 2:27343327-27343327 - EV005-R6 COSM4410705 c.708_709insA p.E237fs*10 Insertion - Frameshift 2:27342094-27342095 - S02285 COSM5684757 c.705T>A p.G235G Substitution - coding silent 2:27342098-27342098 - C0060T COSM4164495 c.1951A>T p.N651Y Substitution - Missense 2:27329209-27329209 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.75782 2p23.3 604883

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.C291R c.871T>C 2 27560872 UCEC A T Synonymous p.S165S c.495T>A 2 27565767 COREAD C A Missense p.E271D c.813G>T 2 27564857 SCLC C A Missense p.Q351H c.1053G>T 2 27560185 LUSC C A Nonsense p.E41* c.121G>T 2 27566301 HNSC C - Frameshift p.A409Qfs*15 c.1225delG 2 27559195 HNSC - C Frameshift p.T393Sfs*30 c.1177_1178insG 2 27559242 MB C G Missense p.E50Q c.148G>C 2 27566274 HNSC C G Missense p.E61Q c.181G>C 2 27566241 HNSC C G Missense p.E835D c.2505G>C 2 27550056 HNSC C G Missense p.G695A c.2084G>C 2 27551754 HNSC C G Missense p.Q66H c.198G>C 2 27566224 HNSC C T IntronicSNV . c.1-916G>A 2 27567337 CLL C T IntronicSNV . c.2256+5G>A 2 27551330 STAD C T Missense p.A774T c.2320G>A 2 27550993 STAD C T Missense p.D35N c.103G>A 2 27566319 BLCA C T Missense p.G180E c.539G>A 2 27565723 CM C T Missense p.G555S c.1663G>A 2 27556591 STAD C T Missense p.R595Q c.1784G>A 2 27552339 OV C T Missense p.R897Q c.2690G>A 2 27549588 UCEC C T Missense p.V708I c.2122G>A 2 27551716 BRCA C T Synonymous p.P761P c.2283G>A 2 27551030 BLCA G A IntronicSNV . c.1128-33C>T 2 27559325 CM G A IntronicSNV . c.1356-26C>T 2 27558921 CM G A Missense p.L643F c.1927C>T 2 27552100 CM G A Missense p.P140L c.419C>T 2 27565843 CM G A Missense p.P494L c.1481C>T 2 27558560 CM G A Missense p.S157L c.470C>T 2 27565792 RCCC G A Missense p.S419F c.1256C>T 2 27559164 CM G A Nonsense p.R704* c.2110C>T 2 27551728 CM G A Synonymous p.F628F c.1884C>T 2 27552143 CM G A Synonymous p.L810L c.2430C>T 2 27550131 CM G A Synonymous p.P16P c.48C>T 2 27566374 STAD G C Missense p.S341C c.1022C>G 2 27560354 BRCA G C Missense p.S597C c.1790C>G 2 27552333 LUSC G - Frameshift p.H838Ifs*91 c.2512delC 2 27550049 RCCC GG AA Missense p.P487S c.1458_1459delinsTT 2 27558792 CM GGAATGAACCCTGG - SpliceAcceptorDeletion . c.2410-4_2419delCCAGGGTTCATTCC 2 27550142 UCEC G T Missense p.P117T c.349C>A 2 27565913 LUSC G T Missense p.Q819K c.2455C>A 2 27550106 BLCA G T Nonsense p.S89* c.266C>A 2 27565996 LUAD G T Synonymous p.I863I c.2589C>A 2 27549689 CM G T Synonymous p.L250L c.750C>A 2 27564920 PRAD T A Missense p.D2V c.5A>T 2 27566417 HNSC T C Synonymous p.P356P c.1068A>G 2 27560170 BRCA