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 4 1905977 1905977 + Missense_Mutation SNP G G A TCGA-OR-A5LC-01A-11D-A29I-10 TCGA-OR-A5LC-10A-01D-A29L-10 g.chr4:1905977G>A c.632G>A c.(631-633)gGa>gAa p.G211E BLCA 4 1902579 1902579 + Silent SNP C C T TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr4:1902579C>T c.198C>T c.(196-198)aaC>aaT p.N66N BLCA 4 1902964 1902964 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr4:1902964C>G c.583C>G c.(583-585)Cct>Gct p.P195A BLCA 4 1906030 1906030 + Missense_Mutation SNP A A G TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr4:1906030A>G c.685A>G c.(685-687)Aaa>Gaa p.K229E BLCA 4 1906097 1906097 + Missense_Mutation SNP A A C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:1906097A>C c.752A>C c.(751-753)aAa>aCa p.K251T BLCA 4 1918624 1918624 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr4:1918624C>T c.787C>T c.(787-789)Cac>Tac p.H263Y BLCA 4 1918678 1918678 + Missense_Mutation SNP C C A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr4:1918678C>A c.841C>A c.(841-843)Ctc>Atc p.L281I BLCA 4 1920005 1920005 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr4:1920005C>G c.1065C>G c.(1063-1065)ctC>ctG p.L355L BLCA 4 1932436 1932436 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr4:1932436G>A c.1494G>A c.(1492-1494)caG>caA p.Q498Q BLCA 4 1932464 1932464 + Missense_Mutation SNP C C G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr4:1932464C>G c.1522C>G c.(1522-1524)Ctg>Gtg p.L508V BLCA 4 1936889 1936889 + Missense_Mutation SNP A A G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chr4:1936889A>G c.1574A>G c.(1573-1575)aAa>aGa p.K525R BLCA 4 1940246 1940246 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr4:1940246C>G c.1743C>G c.(1741-1743)ctC>ctG p.L581L BLCA 4 1955068 1955068 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:1955068G>A c.2155G>A c.(2155-2157)Gtg>Atg p.V719M BLCA 4 1955246 1955246 + Nonsense_Mutation SNP C C G TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr4:1955246C>G c.2333C>G c.(2332-2334)tCa>tGa p.S778* BLCA 4 1957023 1957023 + Missense_Mutation SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr4:1957023A>C c.2474A>C c.(2473-2475)cAc>cCc p.H825P BLCA 4 1957529 1957529 + Silent SNP G G A TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr4:1957529G>A c.2628G>A c.(2626-2628)aaG>aaA p.K876K BLCA 4 1957573 1957573 + Missense_Mutation SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr4:1957573A>G c.2672A>G c.(2671-2673)tAc>tGc p.Y891C BLCA 4 1957746 1957746 + Silent SNP T T A TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr4:1957746T>A c.2712T>A c.(2710-2712)gtT>gtA p.V904V BLCA 4 1959760 1959760 + Missense_Mutation SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr4:1959760C>G c.2982C>G c.(2980-2982)atC>atG p.I994M BLCA 4 1961244 1961244 + Missense_Mutation SNP C C T TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr4:1961244C>T c.3032C>T c.(3031-3033)tCa>tTa p.S1011L BLCA 4 1962824 1962824 + Missense_Mutation SNP C C G TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr4:1962824C>G c.3318C>G c.(3316-3318)atC>atG p.I1106M BLCA 4 1976590 1976590 + Splice_Site SNP G G A TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr4:1976590G>A c.3373G>A c.(3373-3375)Gac>Aac p.D1125N BLCA 4 1976670 1976670 + Silent SNP C C T TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr4:1976670C>T c.3453C>T c.(3451-3453)ctC>ctT p.L1151L BLCA 4 1976696 1976696 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:1976696G>A c.3479G>A c.(3478-3480)cGt>cAt p.R1160H BLCA 4 1977056 1977056 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr4:1977056C>T c.3550C>T c.(3550-3552)Ctg>Ttg p.L1184L BLCA 4 1980413 1980413 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr4:1980413C>T c.3875C>T c.(3874-3876)tCg>tTg p.S1292L BRCA 4 1906107 1906107 + Splice_Site SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr4:1906107T>C c.e5+2 BRCA 4 1920229 1920229 + Missense_Mutation SNP A A G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 g.chr4:1920229A>G c.1289A>G c.(1288-1290)gAc>gGc p.D430G BRCA 4 1936971 1936971 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr4:1936971C>G c.1656C>G c.(1654-1656)gaC>gaG p.D552E BRCA 4 1941401 1941401 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 g.chr4:1941401G>A c.1777G>A c.(1777-1779)Gca>Aca p.A593T BRCA 4 1953848 1953848 + Missense_Mutation SNP C C G TCGA-A8-A07C-01A-11D-A045-09 TCGA-A8-A07C-10A-01W-A055-09 g.chr4:1953848C>G c.2027C>G c.(2026-2028)cCg>cGg p.P676R BRCA 4 1976719 1976719 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr4:1976719G>A c.3502G>A c.(3502-3504)Gac>Aac p.D1168N CESC 4 1902844 1902844 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr4:1902844G>C c.463G>C c.(463-465)Gaa>Caa p.E155Q CESC 4 1918753 1918753 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr4:1918753G>A c.916G>A c.(916-918)Gag>Aag p.E306K CESC 4 1919928 1919928 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr4:1919928G>T c.988G>T c.(988-990)Gaa>Taa p.E330* CESC 4 1944085 1944085 + Intron SNP C C G TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 g.chr4:1944085C>G CESC 4 1961446 1961446 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr4:1961446C>G c.3234C>G c.(3232-3234)gtC>gtG p.V1078V CESC 4 1980533 1980533 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 g.chr4:1980533C>T c.3995C>T c.(3994-3996)tCg>tTg p.S1332L CHOL 4 1918727 1918727 + Missense_Mutation SNP G G T TCGA-ZH-A8Y2-01A-11D-A417-09 TCGA-ZH-A8Y2-10A-01D-A41A-09 g.chr4:1918727G>T c.890G>T c.(889-891)aGt>aTt p.S297I COAD 4 1902929 1902929 + Missense_Mutation SNP T T G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr4:1902929T>G c.548T>G c.(547-549)cTt>cGt p.L183R COAD 4 1919949 1919949 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:1919949G>A c.1009G>A c.(1009-1011)Gtg>Atg p.V337M COAD 4 1920067 1920067 + Missense_Mutation SNP C C A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr4:1920067C>A c.1127C>A c.(1126-1128)tCc>tAc p.S376Y COAD 4 1920130 1920130 + Missense_Mutation SNP T T C TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr4:1920130T>C c.1190T>C c.(1189-1191)aTg>aCg p.M397T COAD 4 1920350 1920350 + Splice_Site SNP G G T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:1920350G>T c.1410G>T c.(1408-1410)gaG>gaT p.E470D COAD 4 1932364 1932364 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:1932364G>T c.1422G>T c.(1420-1422)gaG>gaT p.E474D COAD 4 1936968 1936968 + Silent SNP G G C TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr4:1936968G>C c.1653G>C c.(1651-1653)acG>acC p.T551T COAD 4 1940200 1940200 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr4:1940200C>T c.1697C>T c.(1696-1698)aCg>aTg p.T566M COAD 4 1940243 1940243 + Silent SNP G G A TCGA-AA-3680-01A-01W-0900-09 TCGA-AA-3680-10A-01W-0900-09 g.chr4:1940243G>A c.1740G>A c.(1738-1740)tcG>tcA p.S580S COAD 4 1941440 1941440 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:1941440G>A c.1816G>A c.(1816-1818)Gca>Aca p.A606T COAD 4 1952818 1952818 + Missense_Mutation SNP A A G TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr4:1952818A>G c.1901A>G c.(1900-1902)gAc>gGc p.D634G COAD 4 1952841 1952841 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:1952841G>A c.1924G>A c.(1924-1926)Gaa>Aaa p.E642K COAD 4 1953849 1953849 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr4:1953849G>A c.2028G>A c.(2026-2028)ccG>ccA p.P676P COAD 4 1955146 1955146 + Frame_Shift_Del DEL A A - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr4:1955146delA c.2233delA c.(2233-2235)aaafs p.K746fs COAD 4 1957709 1957709 + Splice_Site SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:1957709G>T c.e17-1 COAD 4 1962766 1962766 + Missense_Mutation SNP A A G TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr4:1962766A>G c.3260A>G c.(3259-3261)gAa>gGa p.E1087G COAD 4 1962766 1962766 + Missense_Mutation SNP A A G TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr4:1962766A>G c.3260A>G c.(3259-3261)gAa>gGa p.E1087G COAD 4 1962766 1962766 + Missense_Mutation SNP A A G TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr4:1962766A>G c.3260A>G c.(3259-3261)gAa>gGa p.E1087G COAD 4 1962767 1962767 + Silent SNP A A G TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr4:1962767A>G c.3261A>G c.(3259-3261)gaA>gaG p.E1087E COAD 4 1962776 1962776 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr4:1962776C>T c.3270C>T c.(3268-3270)aaC>aaT p.N1090N COAD 4 1976596 1976596 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:1976596A>G c.3379A>G c.(3379-3381)Ata>Gta p.I1127V COAD 4 1977078 1977078 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr4:1977078G>A c.3572G>A c.(3571-3573)tGc>tAc p.C1191Y COAD 4 1980380 1980380 + Missense_Mutation SNP C C A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr4:1980380C>A c.3842C>A c.(3841-3843)cCt>cAt p.P1281H COAD 4 1980443 1980443 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:1980443C>T c.3905C>T c.(3904-3906)tCg>tTg p.S1302L COAD 4 1980538 1980538 + Missense_Mutation SNP A A G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr4:1980538A>G c.4000A>G c.(4000-4002)Aga>Gga p.R1334G COAD 4 1980540 1980540 + Silent SNP A A G TCGA-A6-6142-01A-11D-1771-10 TCGA-A6-6142-10A-01D-1771-10 g.chr4:1980540A>G c.4002A>G c.(4000-4002)agA>agG p.R1334R COADREAD 4 1902850 1902850 + Missense_Mutation SNP A A T TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr4:1902850A>T c.469A>T c.(469-471)Aat>Tat p.N157Y COADREAD 4 1902929 1902929 + Missense_Mutation SNP T T G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr4:1902929T>G c.548T>G c.(547-549)cTt>cGt p.L183R COADREAD 4 1919949 1919949 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:1919949G>A c.1009G>A c.(1009-1011)Gtg>Atg p.V337M COADREAD 4 1920067 1920067 + Missense_Mutation SNP C C A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr4:1920067C>A c.1127C>A c.(1126-1128)tCc>tAc p.S376Y COADREAD 4 1920130 1920130 + Missense_Mutation SNP T T C TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr4:1920130T>C c.1190T>C c.(1189-1191)aTg>aCg p.M397T COADREAD 4 1920350 1920350 + Splice_Site SNP G G T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:1920350G>T c.1410G>T c.(1408-1410)gaG>gaT p.E470D COADREAD 4 1932364 1932364 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:1932364G>T c.1422G>T c.(1420-1422)gaG>gaT p.E474D COADREAD 4 1936968 1936968 + Silent SNP G G C TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr4:1936968G>C c.1653G>C c.(1651-1653)acG>acC p.T551T COADREAD 4 1940200 1940200 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr4:1940200C>T c.1697C>T c.(1696-1698)aCg>aTg p.T566M COADREAD 4 1940243 1940243 + Silent SNP G G A TCGA-AA-3680-01A-01W-0900-09 TCGA-AA-3680-10A-01W-0900-09 g.chr4:1940243G>A c.1740G>A c.(1738-1740)tcG>tcA p.S580S COADREAD 4 1941440 1941440 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:1941440G>A c.1816G>A c.(1816-1818)Gca>Aca p.A606T COADREAD 4 1952818 1952818 + Missense_Mutation SNP A A G TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr4:1952818A>G c.1901A>G c.(1900-1902)gAc>gGc p.D634G COADREAD 4 1952841 1952841 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:1952841G>A c.1924G>A c.(1924-1926)Gaa>Aaa p.E642K COADREAD 4 1952853 1952853 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:1952853G>A c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K COADREAD 4 1953849 1953849 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr4:1953849G>A c.2028G>A c.(2026-2028)ccG>ccA p.P676P COADREAD 4 1955146 1955146 + Frame_Shift_Del DEL A A - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr4:1955146delA c.2233delA c.(2233-2235)aaafs p.K746fs COADREAD 4 1957709 1957709 + Splice_Site SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:1957709G>T c.e17-1 COADREAD 4 1962766 1962766 + Missense_Mutation SNP A A G TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr4:1962766A>G c.3260A>G c.(3259-3261)gAa>gGa p.E1087G COADREAD 4 1962766 1962766 + Missense_Mutation SNP A A G TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr4:1962766A>G c.3260A>G c.(3259-3261)gAa>gGa p.E1087G COADREAD 4 1962766 1962766 + Missense_Mutation SNP A A G TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr4:1962766A>G c.3260A>G c.(3259-3261)gAa>gGa p.E1087G COADREAD 4 1962766 1962766 + Missense_Mutation SNP A A G TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr4:1962766A>G c.3260A>G c.(3259-3261)gAa>gGa p.E1087G COADREAD 4 1962767 1962767 + Silent SNP A A G TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr4:1962767A>G c.3261A>G c.(3259-3261)gaA>gaG p.E1087E COADREAD 4 1962776 1962776 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr4:1962776C>T c.3270C>T c.(3268-3270)aaC>aaT p.N1090N COADREAD 4 1976596 1976596 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:1976596A>G c.3379A>G c.(3379-3381)Ata>Gta p.I1127V COADREAD 4 1977078 1977078 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr4:1977078G>A c.3572G>A c.(3571-3573)tGc>tAc p.C1191Y COADREAD 4 1980380 1980380 + Missense_Mutation SNP C C A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr4:1980380C>A c.3842C>A c.(3841-3843)cCt>cAt p.P1281H COADREAD 4 1980443 1980443 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:1980443C>T c.3905C>T c.(3904-3906)tCg>tTg p.S1302L COADREAD 4 1980538 1980538 + Missense_Mutation SNP A A G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr4:1980538A>G c.4000A>G c.(4000-4002)Aga>Gga p.R1334G COADREAD 4 1980540 1980540 + Silent SNP A A G TCGA-A6-6142-01A-11D-1771-10 TCGA-A6-6142-10A-01D-1771-10 g.chr4:1980540A>G c.4002A>G c.(4000-4002)agA>agG p.R1334R DLBC 4 1957774 1957774 + Missense_Mutation SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr4:1957774G>A c.2740G>A c.(2740-2742)Gag>Aag p.E914K DLBC 4 1957912 1957912 + Missense_Mutation SNP A A C TCGA-FA-8693-01A-11D-2397-10 TCGA-FA-8693-10A-01D-2397-10 g.chr4:1957912A>C c.2878A>C c.(2878-2880)Aac>Cac p.N960H ESCA 4 1932412 1932412 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr4:1932412G>T c.1470G>T c.(1468-1470)caG>caT p.Q490H ESCA 4 1952910 1952910 + Frame_Shift_Del DEL A A - TCGA-IG-A6QS-01A-12D-A33E-09 TCGA-IG-A6QS-10B-01D-A33H-09 g.chr4:1952910delA c.1993delA c.(1993-1995)aaafs p.K666fs ESCA 4 1959724 1959724 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 g.chr4:1959724G>T c.2946G>T c.(2944-2946)caG>caT p.Q982H ESCA 4 1961467 1961467 + Splice_Site SNP G G T TCGA-V5-A7RC-01B-11D-A403-09 TCGA-V5-A7RC-10A-01D-A403-09 g.chr4:1961467G>T c.3255G>T c.(3253-3255)aaG>aaT p.K1085N ESCA 4 1980408 1980409 + Frame_Shift_Ins INS - - C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr4:1980408_1980409insC c.3870_3871insC c.(3871-3873)cctfs p.P1291fs GBM 4 1955109 1955109 + Silent SNP A A G TCGA-27-1833-01A-01W-0643-08 TCGA-27-1833-10A-01W-0644-08 g.chr4:1955109A>G c.2196A>G c.(2194-2196)gtA>gtG p.V732V GBM 4 1978378 1978378 + Silent SNP C C A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 g.chr4:1978378C>A c.3798C>A c.(3796-3798)tcC>tcA p.S1266S GBMLGG 4 1932478 1932478 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:1932478C>T c.1536C>T c.(1534-1536)gtC>gtT p.V512V GBMLGG 4 1955109 1955109 + Silent SNP A A G TCGA-27-1833-01A-01W-0643-08 TCGA-27-1833-10A-01W-0644-08 g.chr4:1955109A>G c.2196A>G c.(2194-2196)gtA>gtG p.V732V GBMLGG 4 1978378 1978378 + Silent SNP C C A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 g.chr4:1978378C>A c.3798C>A c.(3796-3798)tcC>tcA p.S1266S HNSC 4 1902706 1902706 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 g.chr4:1902706G>T c.325G>T c.(325-327)Ggg>Tgg p.G109W HNSC 4 1902732 1902732 + Silent SNP C C T TCGA-D6-A6ES-01A-12D-A31L-08 TCGA-D6-A6ES-10A-01D-A31J-08 g.chr4:1902732C>T c.351C>T c.(349-351)atC>atT p.I117I HNSC 4 1902895 1902895 + Missense_Mutation SNP A A T TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 g.chr4:1902895A>T c.514A>T c.(514-516)Agc>Tgc p.S172C HNSC 4 1936943 1936943 + Missense_Mutation SNP A A T TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr4:1936943A>T c.1628A>T c.(1627-1629)gAc>gTc p.D543V HNSC 4 1941403 1941403 + Silent SNP A A G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr4:1941403A>G c.1779A>G c.(1777-1779)gcA>gcG p.A593A HNSC 4 1955057 1955057 + Missense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chr4:1955057A>T c.2144A>T c.(2143-2145)cAc>cTc p.H715L HNSC 4 1957799 1957799 + Missense_Mutation SNP T T G TCGA-BA-A6DF-01A-11D-A30E-08 TCGA-BA-A6DF-10A-01D-A30H-08 g.chr4:1957799T>G c.2765T>G c.(2764-2766)tTc>tGc p.F922C HNSC 4 1957915 1957915 + Splice_Site SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr4:1957915G>T c.2881G>T c.(2881-2883)Gca>Tca p.A961S HNSC 4 1961207 1961207 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr4:1961207C>T c.2995C>T c.(2995-2997)Cct>Tct p.P999S HNSC 4 1976646 1976646 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 g.chr4:1976646C>A c.3429C>A c.(3427-3429)agC>agA p.S1143R HNSC 4 1980436 1980436 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 g.chr4:1980436C>A c.3898C>A c.(3898-3900)Ccc>Acc p.P1300T KIPAN 4 1920240 1920240 + Missense_Mutation SNP G G C TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr4:1920240G>C c.1300G>C c.(1300-1302)Gga>Cga p.G434R KIPAN 4 1977074 1977074 + Missense_Mutation SNP G G C TCGA-IZ-A6M8-01A-11D-A31X-10 TCGA-IZ-A6M8-10A-01D-A31X-10 g.chr4:1977074G>C c.3568G>C c.(3568-3570)Gtc>Ctc p.V1190L KIPAN 4 1980470 1980470 + Missense_Mutation SNP C C T TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr4:1980470C>T c.3932C>T c.(3931-3933)aCa>aTa p.T1311I KIRC 4 1920240 1920240 + Missense_Mutation SNP G G C TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr4:1920240G>C c.1300G>C c.(1300-1302)Gga>Cga p.G434R KIRC 4 1980470 1980470 + Missense_Mutation SNP C C T TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr4:1980470C>T c.3932C>T c.(3931-3933)aCa>aTa p.T1311I KIRP 4 1977074 1977074 + Missense_Mutation SNP G G C TCGA-IZ-A6M8-01A-11D-A31X-10 TCGA-IZ-A6M8-10A-01D-A31X-10 g.chr4:1977074G>C c.3568G>C c.(3568-3570)Gtc>Ctc p.V1190L LGG 4 1932478 1932478 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:1932478C>T c.1536C>T c.(1534-1536)gtC>gtT p.V512V LIHC 4 1920344 1920344 + Missense_Mutation SNP G G T TCGA-DD-AAEG-01A-11D-A38X-10 TCGA-DD-AAEG-10A-01D-A38X-10 g.chr4:1920344G>T c.1404G>T c.(1402-1404)agG>agT p.R468S LIHC 4 1932357 1932357 + Missense_Mutation SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr4:1932357T>C c.1415T>C c.(1414-1416)gTa>gCa p.V472A LIHC 4 1952825 1952825 + Silent SNP C C T TCGA-DD-AADE-01A-11D-A40R-10 TCGA-DD-AADE-10A-01D-A40U-10 g.chr4:1952825C>T c.1908C>T c.(1906-1908)ccC>ccT p.P636P LIHC 4 1957786 1957786 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr4:1957786delT c.2752delT c.(2752-2754)ttcfs p.F918fs LIHC 4 1957858 1957858 + Missense_Mutation SNP G G T TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr4:1957858G>T c.2824G>T c.(2824-2826)Ggg>Tgg p.G942W LIHC 4 1961231 1961231 + Missense_Mutation SNP A A G TCGA-5C-AAPD-01A-21D-A38X-10 TCGA-5C-AAPD-10A-01D-A38X-10 g.chr4:1961231A>G c.3019A>G c.(3019-3021)Aca>Gca p.T1007A LUAD 4 1902635 1902635 + Missense_Mutation SNP G G T TCGA-55-7724-01A-11D-2167-08 TCGA-55-7724-10A-01D-2167-08 g.chr4:1902635G>T c.254G>T c.(253-255)cGg>cTg p.R85L LUAD 4 1902791 1902791 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 g.chr4:1902791C>T c.410C>T c.(409-411)cCt>cTt p.P137L LUAD 4 1918692 1918692 + Missense_Mutation SNP A A C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 g.chr4:1918692A>C c.855A>C c.(853-855)gaA>gaC p.E285D LUAD 4 1918695 1918695 + Silent SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 g.chr4:1918695A>G c.858A>G c.(856-858)ggA>ggG p.G286G LUAD 4 1920134 1920134 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr4:1920134G>T c.1194G>T c.(1192-1194)aaG>aaT p.K398N LUAD 4 1952804 1952804 + Silent SNP G G T TCGA-44-6776-01A-11D-1855-08 TCGA-44-6776-10A-01D-1855-08 g.chr4:1952804G>T c.1887G>T c.(1885-1887)tcG>tcT p.S629S LUAD 4 1952852 1952852 + Silent SNP C C T TCGA-97-8174-01A-11D-2284-08 TCGA-97-8174-10A-01D-2284-08 g.chr4:1952852C>T c.1935C>T c.(1933-1935)gaC>gaT p.D645D LUAD 4 1955058 1955058 + Missense_Mutation SNP C C G TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 g.chr4:1955058C>G c.2145C>G c.(2143-2145)caC>caG p.H715Q LUAD 4 1955101 1955101 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr4:1955101T>C c.2188T>C c.(2188-2190)Tgt>Cgt p.C730R LUAD 4 1955223 1955223 + Silent SNP C C T TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr4:1955223C>T c.2310C>T c.(2308-2310)tcC>tcT p.S770S LUAD 4 1956924 1956924 + Missense_Mutation SNP A A G TCGA-MP-A4SW-01A-21D-A24P-08 TCGA-MP-A4SW-10A-01D-A24P-08 g.chr4:1956924A>G c.2375A>G c.(2374-2376)tAt>tGt p.Y792C LUAD 4 1957494 1957494 + Missense_Mutation SNP G G T TCGA-73-4670-01A-01D-1265-08 TCGA-73-4670-11A-01D-1265-08 g.chr4:1957494G>T c.2593G>T c.(2593-2595)Ggc>Tgc p.G865C LUAD 4 1957770 1957770 + Silent SNP G G A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr4:1957770G>A c.2736G>A c.(2734-2736)aaG>aaA p.K912K LUAD 4 1961303 1961303 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 g.chr4:1961303G>C c.3091G>C c.(3091-3093)Gag>Cag p.E1031Q LUAD 4 1961455 1961455 + Missense_Mutation SNP G G T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr4:1961455G>T c.3243G>T c.(3241-3243)agG>agT p.R1081S LUAD 4 1962800 1962800 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 g.chr4:1962800C>T c.3294C>T c.(3292-3294)gaC>gaT p.D1098D LUAD 4 1976612 1976612 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr4:1976612C>T c.3395C>T c.(3394-3396)cCc>cTc p.P1132L LUAD 4 1980533 1980533 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr4:1980533C>T c.3995C>T c.(3994-3996)tCg>tTg p.S1332L LUSC 4 1920071 1920071 + Silent SNP A A T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr4:1920071A>T c.1131A>T c.(1129-1131)tcA>tcT p.S377S LUSC 4 1936941 1936941 + Missense_Mutation SNP G G T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr4:1936941G>T c.1626G>T c.(1624-1626)gaG>gaT p.E542D OV 4 1902766 1902766 + Frame_Shift_Del DEL A A - TCGA-10-0938-01A-02W-0419-10 TCGA-10-0938-11A-01W-0419-10 g.chr4:1902766delA c.385delA c.(385-387)accfs p.T129fs OV 4 1962765 1962765 + Missense_Mutation SNP G G C TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 g.chr4:1962765G>C c.3259G>C c.(3259-3261)Gaa>Caa p.E1087Q OV 4 1980538 1980538 + Silent SNP A A C TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 g.chr4:1980538A>C c.4000A>C c.(4000-4002)Aga>Cga p.R1334R PAAD 4 1918684 1918684 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:1918684G>A c.847G>A c.(847-849)Gct>Act p.A283T PAAD 4 1936885 1936885 + Frame_Shift_Del DEL A A - TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 g.chr4:1936885delA c.1570delA c.(1570-1572)aaafs p.K525fs PAAD 4 1955146 1955146 + Frame_Shift_Del DEL A A - TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr4:1955146delA c.2233delA c.(2233-2235)aaafs p.K746fs PCPG 4 1918661 1918661 + Missense_Mutation SNP G G T TCGA-SR-A6MP-01A-11D-A35I-08 TCGA-SR-A6MP-10A-01D-A35G-08 g.chr4:1918661G>T c.824G>T c.(823-825)tGg>tTg p.W275L PRAD 4 1902634 1902634 + Missense_Mutation SNP C C G TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 g.chr4:1902634C>G c.253C>G c.(253-255)Cgg>Ggg p.R85G PRAD 4 1902918 1902918 + Silent SNP G G A TCGA-EJ-A7NG-01A-31D-A33T-08 TCGA-EJ-A7NG-10A-01D-A33W-08 g.chr4:1902918G>A c.537G>A c.(535-537)ctG>ctA p.L179L PRAD 4 1918645 1918645 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:1918645G>A c.808G>A c.(808-810)Gcc>Acc p.A270T PRAD 4 1957028 1957028 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:1957028G>A c.2479G>A c.(2479-2481)Gcc>Acc p.A827T PRAD 4 1957835 1957835 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:1957835C>T c.2801C>T c.(2800-2802)gCg>gTg p.A934V PRAD 4 1961236 1961236 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:1961236G>A c.3024G>A c.(3022-3024)gcG>gcA p.A1008A PRAD 4 1976594 1976594 + Missense_Mutation SNP G G A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 g.chr4:1976594G>A c.3377G>A c.(3376-3378)cGt>cAt p.R1126H PRAD 4 1976605 1976605 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:1976605G>A c.3388G>A c.(3388-3390)Gct>Act p.A1130T PRAD 4 1976680 1976680 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:1976680G>A c.3463G>A c.(3463-3465)Gtg>Atg p.V1155M PRAD 4 1980396 1980396 + Silent SNP C C T TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 g.chr4:1980396C>T c.3858C>T c.(3856-3858)gaC>gaT p.D1286D READ 4 1902850 1902850 + Missense_Mutation SNP A A T TCGA-DY-A1DD-01A-21D-A152-10 TCGA-DY-A1DD-10A-01D-A152-10 g.chr4:1902850A>T c.469A>T c.(469-471)Aat>Tat p.N157Y READ 4 1952853 1952853 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:1952853G>A c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K READ 4 1962766 1962766 + Missense_Mutation SNP A A G TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr4:1962766A>G c.3260A>G c.(3259-3261)gAa>gGa p.E1087G SARC 4 1902605 1902605 + Missense_Mutation SNP C C T TCGA-X6-A8C4-01A-11D-A36J-09 TCGA-X6-A8C4-10A-01D-A36M-09 g.chr4:1902605C>T c.224C>T c.(223-225)cCa>cTa p.P75L SARC 4 1918632 1918632 + Silent SNP G G A TCGA-SI-AA8B-01A-11D-A387-09 TCGA-SI-AA8B-10A-01D-A38A-09 g.chr4:1918632G>A c.795G>A c.(793-795)caG>caA p.Q265Q SARC 4 1956939 1956939 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr4:1956939C>T c.2390C>T c.(2389-2391)gCt>gTt p.A797V SARC 4 1957789 1957789 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr4:1957789C>T c.2755C>T c.(2755-2757)Cct>Tct p.P919S SARC 4 1977056 1977056 + Silent SNP C C T TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 g.chr4:1977056C>T c.3550C>T c.(3550-3552)Ctg>Ttg p.L1184L SKCM 4 1902413 1902413 + Missense_Mutation SNP C C T TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr4:1902413C>T c.32C>T c.(31-33)tCt>tTt p.S11F SKCM 4 1902443 1902443 + Missense_Mutation SNP T T G TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr4:1902443T>G c.62T>G c.(61-63)aTg>aGg p.M21R SKCM 4 1902596 1902596 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr4:1902596C>T c.215C>T c.(214-216)cCc>cTc p.P72L SKCM 4 1902632 1902632 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr4:1902632C>T c.251C>T c.(250-252)tCc>tTc p.S84F SKCM 4 1902911 1902911 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr4:1902911C>T c.530C>T c.(529-531)tCc>tTc p.S177F SKCM 4 1918700 1918700 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr4:1918700G>A c.863G>A c.(862-864)gGa>gAa p.G288E SKCM 4 1919900 1919900 + Silent SNP C C T TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr4:1919900C>T c.960C>T c.(958-960)gcC>gcT p.A320A SKCM 4 1920067 1920067 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr4:1920067C>T c.1127C>T c.(1126-1128)tCc>tTc p.S376F SKCM 4 1920068 1920068 + Silent SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 g.chr4:1920068C>T c.1128C>T c.(1126-1128)tcC>tcT p.S376S SKCM 4 1920195 1920195 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr4:1920195G>A c.1255G>A c.(1255-1257)Ggg>Agg p.G419R SKCM 4 1957749 1957749 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr4:1957749C>T c.2715C>T c.(2713-2715)ccC>ccT p.P905P SKCM 4 1957788 1957788 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr4:1957788C>T c.2754C>T c.(2752-2754)ttC>ttT p.F918F SKCM 4 1957846 1957846 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr4:1957846C>T c.2812C>T c.(2812-2814)Ccg>Tcg p.P938S SKCM 4 1957858 1957858 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:1957858G>A c.2824G>A c.(2824-2826)Ggg>Agg p.G942R SKCM 4 1961227 1961227 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr4:1961227C>T c.3015C>T c.(3013-3015)atC>atT p.I1005I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 4 1962801 1962801 single base substitution G A 3_prime_UTR_variant ALL-US 4 1962801 1962801 single base substitution G A downstream_gene_variant ALL-US 4 1962801 1962801 single base substitution G A exon_variant ALL-US 4 1962801 1962801 single base substitution G A missense_variant E1099K 3295G>A ALL-US 4 1962801 1962801 single base substitution G A missense_variant E447K 1339G>A ALL-US 4 1976665 1976665 single base substitution A G 3_prime_UTR_variant ALL-US 4 1976665 1976665 single base substitution A G exon_variant ALL-US 4 1976665 1976665 single base substitution A G missense_variant T1150A 3448A>G ALL-US 4 1976665 1976665 single base substitution A G missense_variant T498A 1492A>G ALL-US 4 1976665 1976665 single base substitution A G upstream_gene_variant BLCA-CN 4 1988193 1988193 single base substitution T C downstream_gene_variant BLCA-US 4 1902964 1902964 single base substitution C G downstream_gene_variant BLCA-US 4 1902964 1902964 single base substitution C G exon_variant BLCA-US 4 1902964 1902964 single base substitution C G missense_variant P195A 583C>G BLCA-US 4 1918624 1918624 single base substitution C T 3_prime_UTR_variant BLCA-US 4 1918624 1918624 single base substitution C T downstream_gene_variant BLCA-US 4 1918624 1918624 single base substitution C T exon_variant BLCA-US 4 1918624 1918624 single base substitution C T missense_variant H263Y 787C>T BLCA-US 4 1918624 1918624 single base substitution C T upstream_gene_variant BLCA-US 4 1918678 1918678 single base substitution C A 3_prime_UTR_variant BLCA-US 4 1918678 1918678 single base substitution C A downstream_gene_variant BLCA-US 4 1918678 1918678 single base substitution C A exon_variant BLCA-US 4 1918678 1918678 single base substitution C A missense_variant L281I 841C>A BLCA-US 4 1918678 1918678 single base substitution C A upstream_gene_variant BLCA-US 4 1932436 1932436 single base substitution G A exon_variant BLCA-US 4 1932436 1932436 single base substitution G A synonymous_variant Q498Q 1494G>A BLCA-US 4 1932436 1932436 single base substitution G A upstream_gene_variant BLCA-US 4 1936889 1936889 single base substitution A G exon_variant BLCA-US 4 1936889 1936889 single base substitution A G missense_variant K525R 1574A>G BLCA-US 4 1936889 1936889 single base substitution A G upstream_gene_variant BLCA-US 4 1940246 1940246 single base substitution C G exon_variant BLCA-US 4 1940246 1940246 single base substitution C G intron_variant BLCA-US 4 1940246 1940246 single base substitution C G synonymous_variant L581L 1743C>G BLCA-US 4 1940246 1940246 single base substitution C G upstream_gene_variant BLCA-US 4 1957023 1957023 single base substitution A C 3_prime_UTR_variant BLCA-US 4 1957023 1957023 single base substitution A C downstream_gene_variant BLCA-US 4 1957023 1957023 single base substitution A C exon_variant BLCA-US 4 1957023 1957023 single base substitution A C missense_variant H148P 443A>C BLCA-US 4 1957023 1957023 single base substitution A C missense_variant H173P 518A>C BLCA-US 4 1957023 1957023 single base substitution A C missense_variant H825P 2474A>C BLCA-US 4 1957023 1957023 single base substitution A C upstream_gene_variant BLCA-US 4 1957529 1957529 single base substitution G A 3_prime_UTR_variant BLCA-US 4 1957529 1957529 single base substitution G A downstream_gene_variant BLCA-US 4 1957529 1957529 single base substitution G A exon_variant BLCA-US 4 1957529 1957529 single base substitution G A synonymous_variant K199K 597G>A BLCA-US 4 1957529 1957529 single base substitution G A synonymous_variant K224K 672G>A BLCA-US 4 1957529 1957529 single base substitution G A synonymous_variant K876K 2628G>A BLCA-US 4 1957573 1957573 single base substitution A G 3_prime_UTR_variant BLCA-US 4 1957573 1957573 single base substitution A G downstream_gene_variant BLCA-US 4 1957573 1957573 single base substitution A G exon_variant BLCA-US 4 1957573 1957573 single base substitution A G missense_variant Y214C 641A>G BLCA-US 4 1957573 1957573 single base substitution A G missense_variant Y239C 716A>G BLCA-US 4 1957573 1957573 single base substitution A G missense_variant Y891C 2672A>G BLCA-US 4 1977056 1977056 single base substitution C T 3_prime_UTR_variant BLCA-US 4 1977056 1977056 single base substitution C T exon_variant BLCA-US 4 1977056 1977056 single base substitution C T synonymous_variant L1184L 3550C>T BLCA-US 4 1977056 1977056 single base substitution C T synonymous_variant L532L 1594C>T BLCA-US 4 1977056 1977056 single base substitution C T upstream_gene_variant BLCA-US 4 1980413 1980413 single base substitution C T 3_prime_UTR_variant BLCA-US 4 1980413 1980413 single base substitution C T downstream_gene_variant BLCA-US 4 1980413 1980413 single base substitution C T exon_variant BLCA-US 4 1980413 1980413 single base substitution C T missense_variant S1292L 3875C>T BLCA-US 4 1980413 1980413 single base substitution C T missense_variant S640L 1919C>T BLCA-US 4 1985607 1985607 single base substitution G A downstream_gene_variant BLCA-US 4 1985711 1985711 single base substitution G A downstream_gene_variant BLCA-US 4 1985773 1985773 single base substitution C T downstream_gene_variant BOCA-FR 4 1952520 1952520 single base substitution C A downstream_gene_variant BOCA-FR 4 1952520 1952520 single base substitution C A intron_variant BOCA-FR 4 1952520 1952520 single base substitution C A upstream_gene_variant BRCA-EU 4 1870944 1870944 single base substitution G A upstream_gene_variant BRCA-EU 4 1871191 1871191 single base substitution C G upstream_gene_variant BRCA-EU 4 1871250 1871250 insertion of <=200bp - T upstream_gene_variant BRCA-EU 4 1873821 1873821 single base substitution G T intron_variant BRCA-EU 4 1877525 1877525 single base substitution A G intron_variant BRCA-EU 4 1879194 1879194 single base substitution C T intron_variant BRCA-EU 4 1880142 1880142 single base substitution C G intron_variant BRCA-EU 4 1883317 1883317 single base substitution T C intron_variant BRCA-EU 4 1884596 1884596 single base substitution A G intron_variant BRCA-EU 4 1884596 1884596 single base substitution A G upstream_gene_variant BRCA-EU 4 1884600 1884600 single base substitution T A intron_variant BRCA-EU 4 1884600 1884600 single base substitution T A upstream_gene_variant BRCA-EU 4 1887917 1887917 single base substitution C G intron_variant BRCA-EU 4 1887917 1887917 single base substitution C G upstream_gene_variant BRCA-EU 4 1888306 1888306 single base substitution T C intron_variant BRCA-EU 4 1888306 1888306 single base substitution T C upstream_gene_variant BRCA-EU 4 1888307 1888307 single base substitution C A intron_variant BRCA-EU 4 1888307 1888307 single base substitution C A upstream_gene_variant BRCA-EU 4 1890033 1890033 single base substitution G T intron_variant BRCA-EU 4 1890033 1890033 single base substitution G T upstream_gene_variant BRCA-EU 4 1891437 1891437 single base substitution G T intron_variant BRCA-EU 4 1891437 1891437 single base substitution G T upstream_gene_variant BRCA-EU 4 1893124 1893124 single base substitution G A intron_variant BRCA-EU 4 1893124 1893124 single base substitution G A upstream_gene_variant BRCA-EU 4 1894920 1894920 single base substitution C T intron_variant BRCA-EU 4 1897823 1897823 single base substitution T C intron_variant BRCA-EU 4 1897823 1897823 single base substitution T C upstream_gene_variant BRCA-EU 4 1898244 1898244 single base substitution C A intron_variant BRCA-EU 4 1898244 1898244 single base substitution C A upstream_gene_variant BRCA-EU 4 1898818 1898818 single base substitution G T intron_variant BRCA-EU 4 1898818 1898818 single base substitution G T upstream_gene_variant BRCA-EU 4 1899380 1899380 single base substitution G C intron_variant BRCA-EU 4 1899380 1899380 single base substitution G C upstream_gene_variant BRCA-EU 4 1899739 1899739 deletion of <=200bp T - intron_variant BRCA-EU 4 1899739 1899739 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 1899752 1899752 single base substitution C T intron_variant BRCA-EU 4 1899752 1899752 single base substitution C T upstream_gene_variant BRCA-EU 4 1900138 1900138 single base substitution T C intron_variant BRCA-EU 4 1900138 1900138 single base substitution T C upstream_gene_variant BRCA-EU 4 1900665 1900665 single base substitution G A intron_variant BRCA-EU 4 1900665 1900665 single base substitution G A upstream_gene_variant BRCA-EU 4 1900858 1900858 single base substitution G A intron_variant BRCA-EU 4 1900858 1900858 single base substitution G A upstream_gene_variant BRCA-EU 4 1901084 1901084 insertion of <=200bp - TCCA 5_prime_UTR_variant BRCA-EU 4 1901084 1901084 insertion of <=200bp - TCCA intron_variant BRCA-EU 4 1901084 1901084 insertion of <=200bp - TCCA upstream_gene_variant BRCA-EU 4 1901305 1901305 single base substitution T C intron_variant BRCA-EU 4 1901305 1901305 single base substitution T C upstream_gene_variant BRCA-EU 4 1904730 1904730 single base substitution G A downstream_gene_variant BRCA-EU 4 1904730 1904730 single base substitution G A intron_variant BRCA-EU 4 1906656 1906656 single base substitution G A downstream_gene_variant BRCA-EU 4 1906656 1906656 single base substitution G A intron_variant BRCA-EU 4 1907462 1907462 single base substitution G C downstream_gene_variant BRCA-EU 4 1907462 1907462 single base substitution G C intron_variant BRCA-EU 4 1908064 1908064 single base substitution C G intron_variant BRCA-EU 4 1909515 1909515 deletion of <=200bp T - intron_variant BRCA-EU 4 1909736 1909737 deletion of <=200bp TT - intron_variant BRCA-EU 4 1909804 1909804 single base substitution A G intron_variant BRCA-EU 4 1910176 1910176 single base substitution G T intron_variant BRCA-EU 4 1910990 1910990 deletion of <=200bp C - intron_variant BRCA-EU 4 1910990 1910990 insertion of <=200bp - C intron_variant BRCA-EU 4 1914524 1914524 single base substitution T A downstream_gene_variant BRCA-EU 4 1914524 1914524 single base substitution T A intron_variant BRCA-EU 4 1914562 1914562 single base substitution G A downstream_gene_variant BRCA-EU 4 1914562 1914562 single base substitution G A intron_variant BRCA-EU 4 1915472 1915472 single base substitution C G downstream_gene_variant BRCA-EU 4 1915472 1915472 single base substitution C G intron_variant BRCA-EU 4 1915472 1915472 single base substitution C G upstream_gene_variant BRCA-EU 4 1915552 1915552 single base substitution C G downstream_gene_variant BRCA-EU 4 1915552 1915552 single base substitution C G intron_variant BRCA-EU 4 1915552 1915552 single base substitution C G upstream_gene_variant BRCA-EU 4 1916090 1916090 single base substitution G A downstream_gene_variant BRCA-EU 4 1916090 1916090 single base substitution G A intron_variant BRCA-EU 4 1916090 1916090 single base substitution G A upstream_gene_variant BRCA-EU 4 1917042 1917042 single base substitution C T downstream_gene_variant BRCA-EU 4 1917042 1917042 single base substitution C T intron_variant BRCA-EU 4 1917042 1917042 single base substitution C T upstream_gene_variant BRCA-EU 4 1917084 1917084 single base substitution G T downstream_gene_variant BRCA-EU 4 1917084 1917084 single base substitution G T intron_variant BRCA-EU 4 1917084 1917084 single base substitution G T upstream_gene_variant BRCA-EU 4 1918407 1918407 single base substitution T C downstream_gene_variant BRCA-EU 4 1918407 1918407 single base substitution T C intron_variant BRCA-EU 4 1918407 1918407 single base substitution T C upstream_gene_variant BRCA-EU 4 1920448 1920448 single base substitution C G downstream_gene_variant BRCA-EU 4 1920448 1920448 single base substitution C G exon_variant BRCA-EU 4 1920448 1920448 single base substitution C G intron_variant BRCA-EU 4 1920794 1920794 single base substitution A C downstream_gene_variant BRCA-EU 4 1920794 1920794 single base substitution A C exon_variant BRCA-EU 4 1920794 1920794 single base substitution A C intron_variant BRCA-EU 4 1921048 1921048 single base substitution A G downstream_gene_variant BRCA-EU 4 1921048 1921048 single base substitution A G intron_variant BRCA-EU 4 1921281 1921281 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 1921281 1921281 deletion of <=200bp T - intron_variant BRCA-EU 4 1921422 1921422 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 1921422 1921422 insertion of <=200bp - A intron_variant BRCA-EU 4 1921505 1921505 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 1921505 1921505 deletion of <=200bp A - intron_variant BRCA-EU 4 1921505 1921505 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 1921505 1921505 insertion of <=200bp - A intron_variant BRCA-EU 4 1921532 1921532 single base substitution G A downstream_gene_variant BRCA-EU 4 1921532 1921532 single base substitution G A intron_variant BRCA-EU 4 1922099 1922099 single base substitution C T downstream_gene_variant BRCA-EU 4 1922099 1922099 single base substitution C T intron_variant BRCA-EU 4 1922238 1922238 single base substitution A C downstream_gene_variant BRCA-EU 4 1922238 1922238 single base substitution A C intron_variant BRCA-EU 4 1926168 1926168 deletion of <=200bp A - intron_variant BRCA-EU 4 1928679 1928679 single base substitution C T intron_variant BRCA-EU 4 1928679 1928679 single base substitution C T upstream_gene_variant BRCA-EU 4 1928886 1928886 single base substitution G A intron_variant BRCA-EU 4 1928886 1928886 single base substitution G A upstream_gene_variant BRCA-EU 4 1931575 1931575 single base substitution G A intron_variant BRCA-EU 4 1931575 1931575 single base substitution G A upstream_gene_variant BRCA-EU 4 1932887 1932887 single base substitution G A intron_variant BRCA-EU 4 1933285 1933285 single base substitution C T intron_variant BRCA-EU 4 1933359 1933359 single base substitution G A intron_variant BRCA-EU 4 1934212 1934212 single base substitution G A intron_variant BRCA-EU 4 1939596 1939596 single base substitution C T intron_variant BRCA-EU 4 1939596 1939596 single base substitution C T upstream_gene_variant BRCA-EU 4 1941168 1941168 single base substitution G A exon_variant BRCA-EU 4 1941168 1941168 single base substitution G A intron_variant BRCA-EU 4 1941168 1941168 single base substitution G A upstream_gene_variant BRCA-EU 4 1941168 1941168 single base substitution G C exon_variant BRCA-EU 4 1941168 1941168 single base substitution G C intron_variant BRCA-EU 4 1941168 1941168 single base substitution G C upstream_gene_variant BRCA-EU 4 1942162 1942162 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 1942162 1942162 single base substitution G A intron_variant BRCA-EU 4 1942284 1942284 single base substitution C G 3_prime_UTR_variant BRCA-EU 4 1942284 1942284 single base substitution C G intron_variant BRCA-EU 4 1942604 1942604 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 1942604 1942604 single base substitution C T intron_variant BRCA-EU 4 1943171 1943171 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 1943171 1943171 single base substitution G A intron_variant BRCA-EU 4 1943450 1943450 single base substitution T G 3_prime_UTR_variant BRCA-EU 4 1943450 1943450 single base substitution T G intron_variant BRCA-EU 4 1947141 1947141 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 1947141 1947141 single base substitution G A downstream_gene_variant BRCA-EU 4 1947141 1947141 single base substitution G A intron_variant BRCA-EU 4 1947801 1947801 single base substitution A T 3_prime_UTR_variant BRCA-EU 4 1947801 1947801 single base substitution A T downstream_gene_variant BRCA-EU 4 1947801 1947801 single base substitution A T intron_variant BRCA-EU 4 1953594 1953594 single base substitution T C downstream_gene_variant BRCA-EU 4 1953594 1953594 single base substitution T C intron_variant BRCA-EU 4 1953594 1953594 single base substitution T C upstream_gene_variant BRCA-EU 4 1955990 1955990 single base substitution G A downstream_gene_variant BRCA-EU 4 1955990 1955990 single base substitution G A intron_variant BRCA-EU 4 1955990 1955990 single base substitution G A upstream_gene_variant BRCA-EU 4 1956141 1956141 single base substitution A T downstream_gene_variant BRCA-EU 4 1956141 1956141 single base substitution A T intron_variant BRCA-EU 4 1956141 1956141 single base substitution A T upstream_gene_variant BRCA-EU 4 1956156 1956156 single base substitution C A downstream_gene_variant BRCA-EU 4 1956156 1956156 single base substitution C A intron_variant BRCA-EU 4 1956156 1956156 single base substitution C A upstream_gene_variant BRCA-EU 4 1956630 1956630 single base substitution G A downstream_gene_variant BRCA-EU 4 1956630 1956630 single base substitution G A intron_variant BRCA-EU 4 1956630 1956630 single base substitution G A upstream_gene_variant BRCA-EU 4 1956755 1956755 single base substitution T A downstream_gene_variant BRCA-EU 4 1956755 1956755 single base substitution T A intron_variant BRCA-EU 4 1956755 1956755 single base substitution T A upstream_gene_variant BRCA-EU 4 1957097 1957097 single base substitution C T downstream_gene_variant BRCA-EU 4 1957097 1957097 single base substitution C T intron_variant BRCA-EU 4 1957097 1957097 single base substitution C T upstream_gene_variant BRCA-EU 4 1957126 1957126 single base substitution C G downstream_gene_variant BRCA-EU 4 1957126 1957126 single base substitution C G intron_variant BRCA-EU 4 1957126 1957126 single base substitution C G upstream_gene_variant BRCA-EU 4 1957805 1957805 single base substitution G T 3_prime_UTR_variant BRCA-EU 4 1957805 1957805 single base substitution G T downstream_gene_variant BRCA-EU 4 1957805 1957805 single base substitution G T exon_variant BRCA-EU 4 1957805 1957805 single base substitution G T missense_variant G247V 740G>T BRCA-EU 4 1957805 1957805 single base substitution G T missense_variant G272V 815G>T BRCA-EU 4 1957805 1957805 single base substitution G T missense_variant G924V 2771G>T BRCA-EU 4 1959711 1959711 single base substitution C G 3_prime_UTR_variant BRCA-EU 4 1959711 1959711 single base substitution C G downstream_gene_variant BRCA-EU 4 1959711 1959711 single base substitution C G exon_variant BRCA-EU 4 1959711 1959711 single base substitution C G missense_variant A326G 977C>G BRCA-EU 4 1959711 1959711 single base substitution C G missense_variant A978G 2933C>G BRCA-EU 4 1960249 1960249 single base substitution G A downstream_gene_variant BRCA-EU 4 1960249 1960249 single base substitution G A intron_variant BRCA-EU 4 1964179 1964179 single base substitution G A downstream_gene_variant BRCA-EU 4 1964179 1964179 single base substitution G A intron_variant BRCA-EU 4 1965016 1965016 single base substitution C T intron_variant BRCA-EU 4 1965719 1965719 single base substitution C T intron_variant BRCA-EU 4 1966753 1966753 single base substitution T G intron_variant BRCA-EU 4 1967323 1967323 single base substitution C T intron_variant BRCA-EU 4 1967447 1967447 single base substitution C G intron_variant BRCA-EU 4 1968159 1968159 single base substitution G A intron_variant BRCA-EU 4 1969206 1969206 single base substitution G A intron_variant BRCA-EU 4 1970559 1970559 single base substitution G A intron_variant BRCA-EU 4 1970654 1970654 single base substitution G A intron_variant BRCA-EU 4 1972215 1972215 single base substitution G C intron_variant BRCA-EU 4 1972215 1972215 single base substitution G C upstream_gene_variant BRCA-EU 4 1973810 1973810 single base substitution G A intron_variant BRCA-EU 4 1973810 1973810 single base substitution G A upstream_gene_variant BRCA-EU 4 1974854 1974854 single base substitution G C intron_variant BRCA-EU 4 1974854 1974854 single base substitution G C upstream_gene_variant BRCA-EU 4 1976095 1976095 single base substitution G A intron_variant BRCA-EU 4 1976095 1976095 single base substitution G A upstream_gene_variant BRCA-EU 4 1976122 1976122 single base substitution G A intron_variant BRCA-EU 4 1976122 1976122 single base substitution G A upstream_gene_variant BRCA-EU 4 1976464 1976464 single base substitution G A intron_variant BRCA-EU 4 1976464 1976464 single base substitution G A upstream_gene_variant BRCA-EU 4 1977201 1977201 single base substitution G A exon_variant BRCA-EU 4 1977201 1977201 single base substitution G A intron_variant BRCA-EU 4 1977201 1977201 single base substitution G A upstream_gene_variant BRCA-EU 4 1978148 1978148 single base substitution T A downstream_gene_variant BRCA-EU 4 1978148 1978148 single base substitution T A exon_variant BRCA-EU 4 1978148 1978148 single base substitution T A intron_variant BRCA-EU 4 1978210 1978210 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 1978210 1978210 single base substitution G A downstream_gene_variant BRCA-EU 4 1978210 1978210 single base substitution G A exon_variant BRCA-EU 4 1978210 1978210 single base substitution G A synonymous_variant T1210T 3630G>A BRCA-EU 4 1978210 1978210 single base substitution G A synonymous_variant T558T 1674G>A BRCA-EU 4 1978405 1978405 single base substitution C T downstream_gene_variant BRCA-EU 4 1978405 1978405 single base substitution C T splice_region_variant BRCA-EU 4 1978914 1978914 single base substitution G A downstream_gene_variant BRCA-EU 4 1978914 1978914 single base substitution G A intron_variant BRCA-EU 4 1979131 1979131 single base substitution C G downstream_gene_variant BRCA-EU 4 1979131 1979131 single base substitution C G intron_variant BRCA-EU 4 1980559 1980559 deletion of <=200bp C - 3_prime_UTR_variant BRCA-EU 4 1980559 1980559 deletion of <=200bp C - downstream_gene_variant BRCA-EU 4 1980559 1980559 deletion of <=200bp C - exon_variant BRCA-EU 4 1980559 1980559 deletion of <=200bp C - frameshift_variant P1341 BRCA-EU 4 1980559 1980559 deletion of <=200bp C - frameshift_variant P689 BRCA-EU 4 1981419 1981419 single base substitution C G 3_prime_UTR_variant BRCA-EU 4 1981419 1981419 single base substitution C G downstream_gene_variant BRCA-EU 4 1981419 1981419 single base substitution C G exon_variant BRCA-EU 4 1983002 1983002 single base substitution A G 3_prime_UTR_variant BRCA-EU 4 1983002 1983002 single base substitution A G downstream_gene_variant BRCA-EU 4 1983721 1983721 single base substitution G C 3_prime_UTR_variant BRCA-EU 4 1983721 1983721 single base substitution G C downstream_gene_variant BRCA-EU 4 1987564 1987564 single base substitution T G downstream_gene_variant BRCA-EU 4 1987769 1987769 single base substitution C T downstream_gene_variant BRCA-EU 4 1988301 1988301 single base substitution A G downstream_gene_variant BRCA-FR 4 1873821 1873821 single base substitution G T intron_variant BRCA-FR 4 1880142 1880142 single base substitution C G intron_variant BRCA-FR 4 1898244 1898244 single base substitution C A intron_variant BRCA-FR 4 1898244 1898244 single base substitution C A upstream_gene_variant BRCA-FR 4 1920448 1920448 single base substitution C G downstream_gene_variant BRCA-FR 4 1920448 1920448 single base substitution C G exon_variant BRCA-FR 4 1920448 1920448 single base substitution C G intron_variant BRCA-FR 4 1921421 1921421 single base substitution G C downstream_gene_variant BRCA-FR 4 1921421 1921421 single base substitution G C intron_variant BRCA-FR 4 1928886 1928886 single base substitution G A intron_variant BRCA-FR 4 1928886 1928886 single base substitution G A upstream_gene_variant BRCA-FR 4 1947141 1947141 single base substitution G A 3_prime_UTR_variant BRCA-FR 4 1947141 1947141 single base substitution G A downstream_gene_variant BRCA-FR 4 1947141 1947141 single base substitution G A intron_variant BRCA-FR 4 1951015 1951015 single base substitution C T downstream_gene_variant BRCA-FR 4 1951015 1951015 single base substitution C T intron_variant BRCA-FR 4 1951015 1951015 single base substitution C T upstream_gene_variant BRCA-FR 4 1963949 1963949 single base substitution C T downstream_gene_variant BRCA-FR 4 1963949 1963949 single base substitution C T intron_variant BRCA-FR 4 1965016 1965016 single base substitution C T intron_variant BRCA-FR 4 1967323 1967323 single base substitution C T intron_variant BRCA-FR 4 1970654 1970654 single base substitution G A intron_variant BRCA-FR 4 1972936 1972936 single base substitution T G intron_variant BRCA-FR 4 1972936 1972936 single base substitution T G upstream_gene_variant BRCA-FR 4 1974854 1974854 single base substitution G C intron_variant BRCA-FR 4 1974854 1974854 single base substitution G C upstream_gene_variant BRCA-FR 4 1978405 1978405 single base substitution C T downstream_gene_variant BRCA-FR 4 1978405 1978405 single base substitution C T splice_region_variant BRCA-FR 4 1979131 1979131 single base substitution C G downstream_gene_variant BRCA-FR 4 1979131 1979131 single base substitution C G intron_variant BRCA-FR 4 1987769 1987769 single base substitution C T downstream_gene_variant BRCA-KR 4 1987566 1987566 single base substitution G A downstream_gene_variant BRCA-UK 4 1868539 1868539 single base substitution C T upstream_gene_variant BRCA-UK 4 1893121 1893121 single base substitution C T intron_variant BRCA-UK 4 1893121 1893121 single base substitution C T upstream_gene_variant BRCA-UK 4 1910176 1910176 single base substitution G T intron_variant BRCA-UK 4 1943450 1943450 single base substitution T G 3_prime_UTR_variant BRCA-UK 4 1943450 1943450 single base substitution T G intron_variant BRCA-UK 4 1985590 1985590 single base substitution C G downstream_gene_variant BRCA-US 4 1906107 1906107 single base substitution T C downstream_gene_variant BRCA-US 4 1906107 1906107 single base substitution T C splice_donor_variant BRCA-US 4 1920229 1920229 single base substitution A G downstream_gene_variant BRCA-US 4 1920229 1920229 single base substitution A G exon_variant BRCA-US 4 1920229 1920229 single base substitution A G missense_variant D430G 1289A>G BRCA-US 4 1936971 1936971 single base substitution C G exon_variant BRCA-US 4 1936971 1936971 single base substitution C G missense_variant D552E 1656C>G BRCA-US 4 1936971 1936971 single base substitution C G upstream_gene_variant BRCA-US 4 1941401 1941401 single base substitution G A exon_variant BRCA-US 4 1941401 1941401 single base substitution G A intron_variant BRCA-US 4 1941401 1941401 single base substitution G A missense_variant A593T 1777G>A BRCA-US 4 1941401 1941401 single base substitution G A missense_variant A5T 13G>A BRCA-US 4 1941401 1941401 single base substitution G A upstream_gene_variant BRCA-US 4 1953848 1953848 single base substitution C G 3_prime_UTR_variant BRCA-US 4 1953848 1953848 single base substitution C G 5_prime_UTR_variant BRCA-US 4 1953848 1953848 single base substitution C G downstream_gene_variant BRCA-US 4 1953848 1953848 single base substitution C G exon_variant BRCA-US 4 1953848 1953848 single base substitution C G intron_variant BRCA-US 4 1953848 1953848 single base substitution C G missense_variant P676R 2027C>G BRCA-US 4 1953848 1953848 single base substitution C G missense_variant P88R 263C>G BRCA-US 4 1953848 1953848 single base substitution C G upstream_gene_variant BRCA-US 4 1954980 1954980 insertion of <=200bp - G downstream_gene_variant BRCA-US 4 1954980 1954980 insertion of <=200bp - G frameshift_variant S37R? BRCA-US 4 1954980 1954980 insertion of <=200bp - G intron_variant BRCA-US 4 1954980 1954980 insertion of <=200bp - G upstream_gene_variant BRCA-US 4 1957868 1957868 single base substitution G C 3_prime_UTR_variant BRCA-US 4 1957868 1957868 single base substitution G C downstream_gene_variant BRCA-US 4 1957868 1957868 single base substitution G C exon_variant BRCA-US 4 1957868 1957868 single base substitution G C missense_variant G268A 803G>C BRCA-US 4 1957868 1957868 single base substitution G C missense_variant G293A 878G>C BRCA-US 4 1957868 1957868 single base substitution G C missense_variant G945A 2834G>C BRCA-US 4 1976719 1976719 single base substitution G A 3_prime_UTR_variant BRCA-US 4 1976719 1976719 single base substitution G A exon_variant BRCA-US 4 1976719 1976719 single base substitution G A missense_variant D1168N 3502G>A BRCA-US 4 1976719 1976719 single base substitution G A missense_variant D516N 1546G>A BRCA-US 4 1976719 1976719 single base substitution G A upstream_gene_variant BRCA-US 4 1985184 1985184 single base substitution G A downstream_gene_variant BRCA-US 4 1986593 1986593 single base substitution G C downstream_gene_variant BRCA-US 4 1986609 1986609 single base substitution G C downstream_gene_variant BTCA-JP 4 1902875 1902875 single base substitution C T downstream_gene_variant BTCA-JP 4 1902875 1902875 single base substitution C T exon_variant BTCA-JP 4 1902875 1902875 single base substitution C T missense_variant A165V 494C>T BTCA-JP 4 1902876 1902876 single base substitution G A downstream_gene_variant BTCA-JP 4 1902876 1902876 single base substitution G A exon_variant BTCA-JP 4 1902876 1902876 single base substitution G A synonymous_variant A165A 495G>A BTCA-JP 4 1903066 1903066 single base substitution C T downstream_gene_variant BTCA-JP 4 1903066 1903066 single base substitution C T intron_variant BTCA-JP 4 1932313 1932313 single base substitution C T intron_variant BTCA-JP 4 1932313 1932313 single base substitution C T upstream_gene_variant BTCA-JP 4 1953009 1953009 single base substitution C G downstream_gene_variant BTCA-JP 4 1953009 1953009 single base substitution C G intron_variant BTCA-JP 4 1953009 1953009 single base substitution C G upstream_gene_variant BTCA-JP 4 1962727 1962727 single base substitution G A downstream_gene_variant BTCA-JP 4 1962727 1962727 single base substitution G A intron_variant BTCA-JP 4 1962801 1962801 single base substitution G A 3_prime_UTR_variant BTCA-JP 4 1962801 1962801 single base substitution G A downstream_gene_variant BTCA-JP 4 1962801 1962801 single base substitution G A exon_variant BTCA-JP 4 1962801 1962801 single base substitution G A missense_variant E1099K 3295G>A BTCA-JP 4 1962801 1962801 single base substitution G A missense_variant E447K 1339G>A BTCA-JP 4 1980319 1980319 single base substitution G A downstream_gene_variant BTCA-JP 4 1980319 1980319 single base substitution G A intron_variant BTCA-JP 4 1980559 1980559 insertion of <=200bp - C 3_prime_UTR_variant BTCA-JP 4 1980559 1980559 insertion of <=200bp - C downstream_gene_variant BTCA-JP 4 1980559 1980559 insertion of <=200bp - C exon_variant BTCA-JP 4 1980559 1980559 insertion of <=200bp - C frameshift_variant P1341P? BTCA-JP 4 1980559 1980559 insertion of <=200bp - C frameshift_variant P689P? BTCA-JP 4 1987955 1987955 single base substitution G A downstream_gene_variant CESC-US 4 1902844 1902844 single base substitution G C downstream_gene_variant CESC-US 4 1902844 1902844 single base substitution G C exon_variant CESC-US 4 1902844 1902844 single base substitution G C missense_variant E155Q 463G>C CESC-US 4 1918753 1918753 single base substitution G A 3_prime_UTR_variant CESC-US 4 1918753 1918753 single base substitution G A downstream_gene_variant CESC-US 4 1918753 1918753 single base substitution G A exon_variant CESC-US 4 1918753 1918753 single base substitution G A missense_variant E306K 916G>A CESC-US 4 1918753 1918753 single base substitution G A upstream_gene_variant CESC-US 4 1919928 1919928 single base substitution G T downstream_gene_variant CESC-US 4 1919928 1919928 single base substitution G T exon_variant CESC-US 4 1919928 1919928 single base substitution G T stop_gained E330* 988G>T CESC-US 4 1919928 1919928 single base substitution G T upstream_gene_variant CESC-US 4 1944085 1944085 single base substitution C G 3_prime_UTR_variant CESC-US 4 1944085 1944085 single base substitution C G downstream_gene_variant CESC-US 4 1944085 1944085 single base substitution C G exon_variant CESC-US 4 1944085 1944085 single base substitution C G intron_variant CESC-US 4 1944085 1944085 single base substitution C G missense_variant P634R 1901C>G CESC-US 4 1961446 1961446 single base substitution C G 3_prime_UTR_variant CESC-US 4 1961446 1961446 single base substitution C G downstream_gene_variant CESC-US 4 1961446 1961446 single base substitution C G exon_variant CESC-US 4 1961446 1961446 single base substitution C G synonymous_variant V1078V 3234C>G CESC-US 4 1961446 1961446 single base substitution C G synonymous_variant V426V 1278C>G CESC-US 4 1976411 1976411 single base substitution G A intron_variant CESC-US 4 1976411 1976411 single base substitution G A upstream_gene_variant CESC-US 4 1980533 1980533 single base substitution C T 3_prime_UTR_variant CESC-US 4 1980533 1980533 single base substitution C T downstream_gene_variant CESC-US 4 1980533 1980533 single base substitution C T exon_variant CESC-US 4 1980533 1980533 single base substitution C T missense_variant S1332L 3995C>T CESC-US 4 1980533 1980533 single base substitution C T missense_variant S680L 2039C>T CESC-US 4 1987870 1987870 single base substitution C T downstream_gene_variant CLLE-ES 4 1886856 1886856 single base substitution T A intron_variant CLLE-ES 4 1886856 1886856 single base substitution T A upstream_gene_variant CLLE-ES 4 1887968 1887968 single base substitution G C intron_variant CLLE-ES 4 1887968 1887968 single base substitution G C upstream_gene_variant CLLE-ES 4 1894777 1894777 single base substitution T A intron_variant CLLE-ES 4 1900627 1900627 single base substitution C T intron_variant CLLE-ES 4 1900627 1900627 single base substitution C T upstream_gene_variant CLLE-ES 4 1901715 1901715 single base substitution G A intron_variant CLLE-ES 4 1901715 1901715 single base substitution G A upstream_gene_variant CLLE-ES 4 1947290 1947290 single base substitution C T 3_prime_UTR_variant CLLE-ES 4 1947290 1947290 single base substitution C T downstream_gene_variant CLLE-ES 4 1947290 1947290 single base substitution C T intron_variant CLLE-ES 4 1947801 1947801 single base substitution A T 3_prime_UTR_variant CLLE-ES 4 1947801 1947801 single base substitution A T downstream_gene_variant CLLE-ES 4 1947801 1947801 single base substitution A T intron_variant CLLE-ES 4 1954359 1954359 single base substitution A G downstream_gene_variant CLLE-ES 4 1954359 1954359 single base substitution A G intron_variant CLLE-ES 4 1954359 1954359 single base substitution A G upstream_gene_variant CLLE-ES 4 1954867 1954867 single base substitution T G 5_prime_UTR_variant CLLE-ES 4 1954867 1954867 single base substitution T G downstream_gene_variant CLLE-ES 4 1954867 1954867 single base substitution T G exon_variant CLLE-ES 4 1954867 1954867 single base substitution T G intron_variant CLLE-ES 4 1954867 1954867 single base substitution T G upstream_gene_variant CLLE-ES 4 1961725 1961725 single base substitution C G downstream_gene_variant CLLE-ES 4 1961725 1961725 single base substitution C G intron_variant CLLE-ES 4 1973285 1973285 single base substitution A T intron_variant CLLE-ES 4 1973285 1973285 single base substitution A T upstream_gene_variant CLLE-ES 4 1976063 1976063 single base substitution G A intron_variant CLLE-ES 4 1976063 1976063 single base substitution G A upstream_gene_variant COAD-US 4 1919949 1919949 single base substitution G A downstream_gene_variant COAD-US 4 1919949 1919949 single base substitution G A exon_variant COAD-US 4 1919949 1919949 single base substitution G A missense_variant V337M 1009G>A COAD-US 4 1919949 1919949 single base substitution G A upstream_gene_variant COAD-US 4 1932364 1932364 single base substitution G T exon_variant COAD-US 4 1932364 1932364 single base substitution G T missense_variant E474D 1422G>T COAD-US 4 1932364 1932364 single base substitution G T upstream_gene_variant COAD-US 4 1955146 1955146 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 4 1955146 1955146 deletion of <=200bp A - downstream_gene_variant COAD-US 4 1955146 1955146 deletion of <=200bp A - exon_variant COAD-US 4 1955146 1955146 deletion of <=200bp A - frameshift_variant K745 COAD-US 4 1955146 1955146 deletion of <=200bp A - frameshift_variant K93 COAD-US 4 1955146 1955146 deletion of <=200bp A - intron_variant COAD-US 4 1955146 1955146 deletion of <=200bp A - upstream_gene_variant COAD-US 4 1957419 1957419 deletion of <=200bp G - downstream_gene_variant COAD-US 4 1957419 1957419 deletion of <=200bp G - exon_variant COAD-US 4 1957419 1957419 deletion of <=200bp G - splice_acceptor_variant COAD-US 4 1957709 1957709 single base substitution G T downstream_gene_variant COAD-US 4 1957709 1957709 single base substitution G T splice_acceptor_variant COAD-US 4 1976596 1976596 single base substitution A G 3_prime_UTR_variant COAD-US 4 1976596 1976596 single base substitution A G exon_variant COAD-US 4 1976596 1976596 single base substitution A G missense_variant I1127V 3379A>G COAD-US 4 1976596 1976596 single base substitution A G missense_variant I475V 1423A>G COAD-US 4 1976596 1976596 single base substitution A G upstream_gene_variant COAD-US 4 1980380 1980380 single base substitution C A 3_prime_UTR_variant COAD-US 4 1980380 1980380 single base substitution C A downstream_gene_variant COAD-US 4 1980380 1980380 single base substitution C A exon_variant COAD-US 4 1980380 1980380 single base substitution C A missense_variant P1281H 3842C>A COAD-US 4 1980380 1980380 single base substitution C A missense_variant P629H 1886C>A COAD-US 4 1980443 1980443 single base substitution C T 3_prime_UTR_variant COAD-US 4 1980443 1980443 single base substitution C T downstream_gene_variant COAD-US 4 1980443 1980443 single base substitution C T exon_variant COAD-US 4 1980443 1980443 single base substitution C T missense_variant S1302L 3905C>T COAD-US 4 1980443 1980443 single base substitution C T missense_variant S650L 1949C>T COAD-US 4 1980559 1980559 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 4 1980559 1980559 deletion of <=200bp C - downstream_gene_variant COAD-US 4 1980559 1980559 deletion of <=200bp C - exon_variant COAD-US 4 1980559 1980559 deletion of <=200bp C - frameshift_variant P1341 COAD-US 4 1980559 1980559 deletion of <=200bp C - frameshift_variant P689 COAD-US 4 1985153 1985153 single base substitution C T downstream_gene_variant COAD-US 4 1985175 1985175 single base substitution C T downstream_gene_variant COAD-US 4 1985605 1985605 single base substitution C T downstream_gene_variant COAD-US 4 1985645 1985645 deletion of <=200bp G - downstream_gene_variant COAD-US 4 1985796 1985796 single base substitution C T downstream_gene_variant COAD-US 4 1987896 1987897 deletion of <=200bp AG - downstream_gene_variant COAD-US 4 1988044 1988044 deletion of <=200bp G - downstream_gene_variant COCA-CN 4 1902311 1902311 single base substitution T C intron_variant COCA-CN 4 1902311 1902311 single base substitution T C upstream_gene_variant COCA-CN 4 1918799 1918799 single base substitution G T downstream_gene_variant COCA-CN 4 1918799 1918799 single base substitution G T intron_variant COCA-CN 4 1918799 1918799 single base substitution G T upstream_gene_variant COCA-CN 4 1936908 1936908 single base substitution G A exon_variant COCA-CN 4 1936908 1936908 single base substitution G A synonymous_variant R531R 1593G>A COCA-CN 4 1936908 1936908 single base substitution G A upstream_gene_variant COCA-CN 4 1956958 1956958 single base substitution C T 3_prime_UTR_variant COCA-CN 4 1956958 1956958 single base substitution C T downstream_gene_variant COCA-CN 4 1956958 1956958 single base substitution C T exon_variant COCA-CN 4 1956958 1956958 single base substitution C T synonymous_variant C126C 378C>T COCA-CN 4 1956958 1956958 single base substitution C T synonymous_variant C151C 453C>T COCA-CN 4 1956958 1956958 single base substitution C T synonymous_variant C803C 2409C>T COCA-CN 4 1956958 1956958 single base substitution C T upstream_gene_variant COCA-CN 4 1957594 1957594 single base substitution G A downstream_gene_variant COCA-CN 4 1957594 1957594 single base substitution G A intron_variant COCA-CN 4 1957919 1957919 single base substitution C T downstream_gene_variant COCA-CN 4 1957919 1957919 single base substitution C T splice_region_variant COCA-CN 4 1962801 1962801 single base substitution G A 3_prime_UTR_variant COCA-CN 4 1962801 1962801 single base substitution G A downstream_gene_variant COCA-CN 4 1962801 1962801 single base substitution G A exon_variant COCA-CN 4 1962801 1962801 single base substitution G A missense_variant E1099K 3295G>A COCA-CN 4 1962801 1962801 single base substitution G A missense_variant E447K 1339G>A COCA-CN 4 1976691 1976691 single base substitution C T 3_prime_UTR_variant COCA-CN 4 1976691 1976691 single base substitution C T exon_variant COCA-CN 4 1976691 1976691 single base substitution C T synonymous_variant D1158D 3474C>T COCA-CN 4 1976691 1976691 single base substitution C T synonymous_variant D506D 1518C>T COCA-CN 4 1976691 1976691 single base substitution C T upstream_gene_variant COCA-CN 4 1984966 1984966 single base substitution G A downstream_gene_variant COCA-CN 4 1985340 1985340 single base substitution A C downstream_gene_variant COCA-CN 4 1985493 1985493 single base substitution C T downstream_gene_variant EOPC-DE 4 1922606 1922606 single base substitution T A downstream_gene_variant EOPC-DE 4 1922606 1922606 single base substitution T A intron_variant EOPC-DE 4 1978366 1978366 single base substitution C T 3_prime_UTR_variant EOPC-DE 4 1978366 1978366 single base substitution C T downstream_gene_variant EOPC-DE 4 1978366 1978366 single base substitution C T exon_variant EOPC-DE 4 1978366 1978366 single base substitution C T synonymous_variant A1262A 3786C>T EOPC-DE 4 1978366 1978366 single base substitution C T synonymous_variant A610A 1830C>T ESAD-UK 4 1870210 1870210 single base substitution C G upstream_gene_variant ESAD-UK 4 1871077 1871077 single base substitution T G upstream_gene_variant ESAD-UK 4 1873706 1873706 single base substitution C T intron_variant ESAD-UK 4 1876580 1876580 single base substitution G T intron_variant ESAD-UK 4 1881260 1881260 single base substitution A T intron_variant ESAD-UK 4 1882751 1882751 single base substitution A C intron_variant ESAD-UK 4 1883828 1883828 single base substitution G A intron_variant ESAD-UK 4 1884137 1884137 single base substitution A C intron_variant ESAD-UK 4 1885024 1885024 single base substitution T C intron_variant ESAD-UK 4 1885024 1885024 single base substitution T C upstream_gene_variant ESAD-UK 4 1885476 1885476 single base substitution G C intron_variant ESAD-UK 4 1885476 1885476 single base substitution G C upstream_gene_variant ESAD-UK 4 1888043 1888043 single base substitution C T intron_variant ESAD-UK 4 1888043 1888043 single base substitution C T upstream_gene_variant ESAD-UK 4 1891230 1891230 single base substitution A G intron_variant ESAD-UK 4 1891230 1891230 single base substitution A G upstream_gene_variant ESAD-UK 4 1893764 1893764 single base substitution C T intron_variant ESAD-UK 4 1893764 1893764 single base substitution C T upstream_gene_variant ESAD-UK 4 1895524 1895524 single base substitution G T 5_prime_UTR_variant ESAD-UK 4 1895524 1895524 single base substitution G T intron_variant ESAD-UK 4 1897889 1897889 single base substitution G A intron_variant ESAD-UK 4 1897889 1897889 single base substitution G A upstream_gene_variant ESAD-UK 4 1899823 1899823 single base substitution T C intron_variant ESAD-UK 4 1899823 1899823 single base substitution T C upstream_gene_variant ESAD-UK 4 1900049 1900049 single base substitution A T intron_variant ESAD-UK 4 1900049 1900049 single base substitution A T upstream_gene_variant ESAD-UK 4 1902335 1902335 insertion of <=200bp - T intron_variant ESAD-UK 4 1902335 1902335 insertion of <=200bp - T upstream_gene_variant ESAD-UK 4 1903640 1903640 single base substitution G T downstream_gene_variant ESAD-UK 4 1903640 1903640 single base substitution G T intron_variant ESAD-UK 4 1904551 1904551 single base substitution G A downstream_gene_variant ESAD-UK 4 1904551 1904551 single base substitution G A intron_variant ESAD-UK 4 1904730 1904730 single base substitution G A downstream_gene_variant ESAD-UK 4 1904730 1904730 single base substitution G A intron_variant ESAD-UK 4 1905365 1905365 single base substitution C A downstream_gene_variant ESAD-UK 4 1905365 1905365 single base substitution C A intron_variant ESAD-UK 4 1910990 1910990 deletion of <=200bp C - intron_variant ESAD-UK 4 1911972 1911972 single base substitution C T intron_variant ESAD-UK 4 1913671 1913671 single base substitution T A intron_variant ESAD-UK 4 1914257 1914257 insertion of <=200bp - T downstream_gene_variant ESAD-UK 4 1914257 1914257 insertion of <=200bp - T intron_variant ESAD-UK 4 1916441 1916441 single base substitution T C downstream_gene_variant ESAD-UK 4 1916441 1916441 single base substitution T C intron_variant ESAD-UK 4 1916441 1916441 single base substitution T C upstream_gene_variant ESAD-UK 4 1916809 1916812 deletion of <=200bp CTTT - downstream_gene_variant ESAD-UK 4 1916809 1916812 deletion of <=200bp CTTT - intron_variant ESAD-UK 4 1916809 1916812 deletion of <=200bp CTTT - upstream_gene_variant ESAD-UK 4 1917800 1917800 single base substitution G A downstream_gene_variant ESAD-UK 4 1917800 1917800 single base substitution G A intron_variant ESAD-UK 4 1917800 1917800 single base substitution G A upstream_gene_variant ESAD-UK 4 1919172 1919172 single base substitution A T intron_variant ESAD-UK 4 1919172 1919172 single base substitution A T upstream_gene_variant ESAD-UK 4 1921281 1921281 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 1921281 1921281 deletion of <=200bp T - intron_variant ESAD-UK 4 1926482 1926482 single base substitution A C intron_variant ESAD-UK 4 1926551 1926551 single base substitution A T intron_variant ESAD-UK 4 1927286 1927286 single base substitution C T intron_variant ESAD-UK 4 1927503 1927503 single base substitution T A intron_variant ESAD-UK 4 1927503 1927503 single base substitution T A upstream_gene_variant ESAD-UK 4 1927797 1927797 single base substitution T C intron_variant ESAD-UK 4 1927797 1927797 single base substitution T C upstream_gene_variant ESAD-UK 4 1930322 1930322 single base substitution C G intron_variant ESAD-UK 4 1930322 1930322 single base substitution C G upstream_gene_variant ESAD-UK 4 1930756 1930756 single base substitution G A intron_variant ESAD-UK 4 1930756 1930756 single base substitution G A upstream_gene_variant ESAD-UK 4 1930757 1930757 single base substitution C G intron_variant ESAD-UK 4 1930757 1930757 single base substitution C G upstream_gene_variant ESAD-UK 4 1933936 1933936 single base substitution G A intron_variant ESAD-UK 4 1937375 1937375 single base substitution T C intron_variant ESAD-UK 4 1937375 1937375 single base substitution T C upstream_gene_variant ESAD-UK 4 1937503 1937503 single base substitution G C intron_variant ESAD-UK 4 1937503 1937503 single base substitution G C upstream_gene_variant ESAD-UK 4 1940417 1940417 single base substitution G T intron_variant ESAD-UK 4 1940417 1940417 single base substitution G T upstream_gene_variant ESAD-UK 4 1943561 1943561 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 1943561 1943561 single base substitution C T downstream_gene_variant ESAD-UK 4 1943561 1943561 single base substitution C T intron_variant ESAD-UK 4 1945468 1945468 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 1945468 1945468 single base substitution C T downstream_gene_variant ESAD-UK 4 1945468 1945468 single base substitution C T intron_variant ESAD-UK 4 1947801 1947801 single base substitution A T 3_prime_UTR_variant ESAD-UK 4 1947801 1947801 single base substitution A T downstream_gene_variant ESAD-UK 4 1947801 1947801 single base substitution A T intron_variant ESAD-UK 4 1950458 1950458 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 1950458 1950458 single base substitution G A intron_variant ESAD-UK 4 1950458 1950458 single base substitution G A upstream_gene_variant ESAD-UK 4 1950545 1950545 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 1950545 1950545 single base substitution G A intron_variant ESAD-UK 4 1950545 1950545 single base substitution G A upstream_gene_variant ESAD-UK 4 1952988 1952988 single base substitution C T downstream_gene_variant ESAD-UK 4 1952988 1952988 single base substitution C T intron_variant ESAD-UK 4 1952988 1952988 single base substitution C T upstream_gene_variant ESAD-UK 4 1953460 1953460 single base substitution G A downstream_gene_variant ESAD-UK 4 1953460 1953460 single base substitution G A intron_variant ESAD-UK 4 1953460 1953460 single base substitution G A upstream_gene_variant ESAD-UK 4 1954282 1954282 single base substitution G A downstream_gene_variant ESAD-UK 4 1954282 1954282 single base substitution G A intron_variant ESAD-UK 4 1954282 1954282 single base substitution G A upstream_gene_variant ESAD-UK 4 1961503 1961503 single base substitution A T downstream_gene_variant ESAD-UK 4 1961503 1961503 single base substitution A T intron_variant ESAD-UK 4 1963981 1963981 single base substitution T C downstream_gene_variant ESAD-UK 4 1963981 1963981 single base substitution T C intron_variant ESAD-UK 4 1965198 1965198 single base substitution C T intron_variant ESAD-UK 4 1966243 1966243 single base substitution C T intron_variant ESAD-UK 4 1970027 1970027 single base substitution C T intron_variant ESAD-UK 4 1972650 1972650 single base substitution T G intron_variant ESAD-UK 4 1972650 1972650 single base substitution T G upstream_gene_variant ESAD-UK 4 1975115 1975115 single base substitution C T intron_variant ESAD-UK 4 1975115 1975115 single base substitution C T upstream_gene_variant ESAD-UK 4 1977038 1977038 single base substitution A G 3_prime_UTR_variant ESAD-UK 4 1977038 1977038 single base substitution A G exon_variant ESAD-UK 4 1977038 1977038 single base substitution A G missense_variant N1178D 3532A>G ESAD-UK 4 1977038 1977038 single base substitution A G missense_variant N526D 1576A>G ESAD-UK 4 1977038 1977038 single base substitution A G upstream_gene_variant ESAD-UK 4 1978263 1978263 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 1978263 1978263 single base substitution G A downstream_gene_variant ESAD-UK 4 1978263 1978263 single base substitution G A exon_variant ESAD-UK 4 1978263 1978263 single base substitution G A missense_variant R1228H 3683G>A ESAD-UK 4 1978263 1978263 single base substitution G A missense_variant R576H 1727G>A ESAD-UK 4 1978631 1978631 single base substitution G A downstream_gene_variant ESAD-UK 4 1978631 1978631 single base substitution G A intron_variant ESAD-UK 4 1981056 1981056 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 1981056 1981056 single base substitution C T downstream_gene_variant ESAD-UK 4 1981056 1981056 single base substitution C T exon_variant ESAD-UK 4 1983955 1983955 deletion of <=200bp T - downstream_gene_variant ESAD-UK 4 1984319 1984319 deletion of <=200bp C - downstream_gene_variant ESAD-UK 4 1987695 1987695 single base substitution G C downstream_gene_variant ESAD-UK 4 1988351 1988351 single base substitution C T downstream_gene_variant ESCA-CN 4 1953979 1953979 single base substitution A G downstream_gene_variant ESCA-CN 4 1953979 1953979 single base substitution A G intron_variant ESCA-CN 4 1953979 1953979 single base substitution A G upstream_gene_variant ESCA-CN 4 1955218 1955218 single base substitution G A 3_prime_UTR_variant ESCA-CN 4 1955218 1955218 single base substitution G A downstream_gene_variant ESCA-CN 4 1955218 1955218 single base substitution G A exon_variant ESCA-CN 4 1955218 1955218 single base substitution G A intron_variant ESCA-CN 4 1955218 1955218 single base substitution G A missense_variant A117T 349G>A ESCA-CN 4 1955218 1955218 single base substitution G A missense_variant A769T 2305G>A ESCA-CN 4 1955218 1955218 single base substitution G A upstream_gene_variant ESCA-CN 4 1985127 1985127 single base substitution C T downstream_gene_variant GBM-US 4 1955109 1955109 single base substitution A G 3_prime_UTR_variant GBM-US 4 1955109 1955109 single base substitution A G downstream_gene_variant GBM-US 4 1955109 1955109 single base substitution A G exon_variant GBM-US 4 1955109 1955109 single base substitution A G intron_variant GBM-US 4 1955109 1955109 single base substitution A G synonymous_variant V732V 2196A>G GBM-US 4 1955109 1955109 single base substitution A G synonymous_variant V80V 240A>G GBM-US 4 1955109 1955109 single base substitution A G upstream_gene_variant GBM-US 4 1978378 1978378 single base substitution C A 3_prime_UTR_variant GBM-US 4 1978378 1978378 single base substitution C A downstream_gene_variant GBM-US 4 1978378 1978378 single base substitution C A exon_variant GBM-US 4 1978378 1978378 single base substitution C A synonymous_variant S1266S 3798C>A GBM-US 4 1978378 1978378 single base substitution C A synonymous_variant S614S 1842C>A GBM-US 4 1986590 1986590 single base substitution G A downstream_gene_variant KIRC-US 4 1920240 1920240 single base substitution G C downstream_gene_variant KIRC-US 4 1920240 1920240 single base substitution G C exon_variant KIRC-US 4 1920240 1920240 single base substitution G C missense_variant G434R 1300G>C KIRC-US 4 1980470 1980470 single base substitution C T 3_prime_UTR_variant KIRC-US 4 1980470 1980470 single base substitution C T downstream_gene_variant KIRC-US 4 1980470 1980470 single base substitution C T exon_variant KIRC-US 4 1980470 1980470 single base substitution C T missense_variant T1311I 3932C>T KIRC-US 4 1980470 1980470 single base substitution C T missense_variant T659I 1976C>T KIRP-US 4 1977074 1977074 single base substitution G C 3_prime_UTR_variant KIRP-US 4 1977074 1977074 single base substitution G C exon_variant KIRP-US 4 1977074 1977074 single base substitution G C missense_variant V1190L 3568G>C KIRP-US 4 1977074 1977074 single base substitution G C missense_variant V538L 1612G>C KIRP-US 4 1977074 1977074 single base substitution G C upstream_gene_variant KIRP-US 4 1985129 1985129 single base substitution C T downstream_gene_variant LAML-KR 4 1909366 1909366 single base substitution G T intron_variant LAML-KR 4 1934341 1934341 single base substitution C T intron_variant LAML-KR 4 1934342 1934342 single base substitution A G intron_variant LICA-CN 4 1902900 1902900 single base substitution A C downstream_gene_variant LICA-CN 4 1902900 1902900 single base substitution A C exon_variant LICA-CN 4 1902900 1902900 single base substitution A C synonymous_variant I173I 519A>C LICA-CN 4 1920337 1920337 single base substitution A T downstream_gene_variant LICA-CN 4 1920337 1920337 single base substitution A T exon_variant LICA-CN 4 1920337 1920337 single base substitution A T missense_variant K466I 1397A>T LICA-CN 4 1957852 1957852 single base substitution A T 3_prime_UTR_variant LICA-CN 4 1957852 1957852 single base substitution A T downstream_gene_variant LICA-CN 4 1957852 1957852 single base substitution A T exon_variant LICA-CN 4 1957852 1957852 single base substitution A T missense_variant M263L 787A>T LICA-CN 4 1957852 1957852 single base substitution A T missense_variant M288L 862A>T LICA-CN 4 1957852 1957852 single base substitution A T missense_variant M940L 2818A>T LICA-FR 4 1893512 1893512 single base substitution A T intron_variant LICA-FR 4 1893512 1893512 single base substitution A T upstream_gene_variant LICA-FR 4 1902447 1902447 single base substitution G A exon_variant LICA-FR 4 1902447 1902447 single base substitution G A synonymous_variant K22K 66G>A LICA-FR 4 1902896 1902896 single base substitution G A downstream_gene_variant LICA-FR 4 1902896 1902896 single base substitution G A exon_variant LICA-FR 4 1902896 1902896 single base substitution G A missense_variant S172N 515G>A LICA-FR 4 1907115 1907115 single base substitution C G downstream_gene_variant LICA-FR 4 1907115 1907115 single base substitution C G intron_variant LICA-FR 4 1920031 1920031 single base substitution G A downstream_gene_variant LICA-FR 4 1920031 1920031 single base substitution G A exon_variant LICA-FR 4 1920031 1920031 single base substitution G A missense_variant G364D 1091G>A LICA-FR 4 1920031 1920031 single base substitution G A upstream_gene_variant LICA-FR 4 1945662 1945662 single base substitution C G 3_prime_UTR_variant LICA-FR 4 1945662 1945662 single base substitution C G downstream_gene_variant LICA-FR 4 1945662 1945662 single base substitution C G intron_variant LICA-FR 4 1949933 1949933 single base substitution G T 3_prime_UTR_variant LICA-FR 4 1949933 1949933 single base substitution G T intron_variant LICA-FR 4 1949933 1949933 single base substitution G T upstream_gene_variant LICA-FR 4 1956926 1956926 single base substitution C T 3_prime_UTR_variant LICA-FR 4 1956926 1956926 single base substitution C T downstream_gene_variant LICA-FR 4 1956926 1956926 single base substitution C T exon_variant LICA-FR 4 1956926 1956926 single base substitution C T intron_variant LICA-FR 4 1956926 1956926 single base substitution C T missense_variant H141Y 421C>T LICA-FR 4 1956926 1956926 single base substitution C T missense_variant H793Y 2377C>T LICA-FR 4 1956926 1956926 single base substitution C T upstream_gene_variant LICA-FR 4 1970660 1970660 single base substitution A T intron_variant LICA-FR 4 1971269 1971269 deletion of <=200bp A - intron_variant LICA-FR 4 1977399 1977399 single base substitution C G downstream_gene_variant LICA-FR 4 1977399 1977399 single base substitution C G intron_variant LICA-FR 4 1977399 1977399 single base substitution C G upstream_gene_variant LIHC-US 4 1957733 1957733 single base substitution A G 3_prime_UTR_variant LIHC-US 4 1957733 1957733 single base substitution A G downstream_gene_variant LIHC-US 4 1957733 1957733 single base substitution A G exon_variant LIHC-US 4 1957733 1957733 single base substitution A G missense_variant H223R 668A>G LIHC-US 4 1957733 1957733 single base substitution A G missense_variant H248R 743A>G LIHC-US 4 1957733 1957733 single base substitution A G missense_variant H900R 2699A>G LIHC-US 4 1957858 1957858 single base substitution G T 3_prime_UTR_variant LIHC-US 4 1957858 1957858 single base substitution G T downstream_gene_variant LIHC-US 4 1957858 1957858 single base substitution G T exon_variant LIHC-US 4 1957858 1957858 single base substitution G T missense_variant G265W 793G>T LIHC-US 4 1957858 1957858 single base substitution G T missense_variant G290W 868G>T LIHC-US 4 1957858 1957858 single base substitution G T missense_variant G942W 2824G>T LINC-JP 4 1870301 1870301 single base substitution C A upstream_gene_variant LINC-JP 4 1880012 1880012 single base substitution G T intron_variant LINC-JP 4 1894899 1894899 single base substitution A G intron_variant LINC-JP 4 1895386 1895386 single base substitution C T intron_variant LINC-JP 4 1916089 1916089 single base substitution T G downstream_gene_variant LINC-JP 4 1916089 1916089 single base substitution T G intron_variant LINC-JP 4 1916089 1916089 single base substitution T G upstream_gene_variant LINC-JP 4 1918074 1918074 single base substitution T A downstream_gene_variant LINC-JP 4 1918074 1918074 single base substitution T A intron_variant LINC-JP 4 1918074 1918074 single base substitution T A upstream_gene_variant LINC-JP 4 1928341 1928341 single base substitution G T intron_variant LINC-JP 4 1928341 1928341 single base substitution G T upstream_gene_variant LINC-JP 4 1930596 1930596 single base substitution T A intron_variant LINC-JP 4 1930596 1930596 single base substitution T A upstream_gene_variant LINC-JP 4 1940139 1940139 single base substitution C T intron_variant LINC-JP 4 1940139 1940139 single base substitution C T upstream_gene_variant LINC-JP 4 1940143 1940143 single base substitution C T intron_variant LINC-JP 4 1940143 1940143 single base substitution C T upstream_gene_variant LINC-JP 4 1944158 1944158 single base substitution A T 3_prime_UTR_variant LINC-JP 4 1944158 1944158 single base substitution A T downstream_gene_variant LINC-JP 4 1944158 1944158 single base substitution A T intron_variant LINC-JP 4 1944158 1944158 single base substitution A T splice_region_variant LINC-JP 4 1953009 1953009 single base substitution C G downstream_gene_variant LINC-JP 4 1953009 1953009 single base substitution C G intron_variant LINC-JP 4 1953009 1953009 single base substitution C G upstream_gene_variant LINC-JP 4 1953030 1953030 single base substitution C T downstream_gene_variant LINC-JP 4 1953030 1953030 single base substitution C T intron_variant LINC-JP 4 1953030 1953030 single base substitution C T upstream_gene_variant LINC-JP 4 1960159 1960159 single base substitution A T downstream_gene_variant LINC-JP 4 1960159 1960159 single base substitution A T intron_variant LINC-JP 4 1980641 1980641 single base substitution A C 3_prime_UTR_variant LINC-JP 4 1980641 1980641 single base substitution A C downstream_gene_variant LINC-JP 4 1980641 1980641 single base substitution A C exon_variant LINC-JP 4 1982397 1982397 single base substitution T G 3_prime_UTR_variant LINC-JP 4 1982397 1982397 single base substitution T G downstream_gene_variant LINC-JP 4 1988104 1988104 single base substitution C A downstream_gene_variant LIRI-JP 4 1869284 1869284 single base substitution T C upstream_gene_variant LIRI-JP 4 1869884 1869884 single base substitution G A upstream_gene_variant LIRI-JP 4 1870843 1870843 single base substitution G A upstream_gene_variant LIRI-JP 4 1871128 1871128 single base substitution G A upstream_gene_variant LIRI-JP 4 1882119 1882119 single base substitution A G intron_variant LIRI-JP 4 1882378 1882378 single base substitution C G intron_variant LIRI-JP 4 1884124 1884124 single base substitution G C intron_variant LIRI-JP 4 1887034 1887034 single base substitution G A intron_variant LIRI-JP 4 1887034 1887034 single base substitution G A upstream_gene_variant LIRI-JP 4 1888661 1888661 single base substitution C T intron_variant LIRI-JP 4 1888661 1888661 single base substitution C T upstream_gene_variant LIRI-JP 4 1889142 1889142 single base substitution A G intron_variant LIRI-JP 4 1889142 1889142 single base substitution A G upstream_gene_variant LIRI-JP 4 1889652 1889652 single base substitution C T intron_variant LIRI-JP 4 1889652 1889652 single base substitution C T upstream_gene_variant LIRI-JP 4 1891696 1891696 single base substitution C T intron_variant LIRI-JP 4 1891696 1891696 single base substitution C T upstream_gene_variant LIRI-JP 4 1896297 1896297 single base substitution G C intron_variant LIRI-JP 4 1896297 1896297 single base substitution G C upstream_gene_variant LIRI-JP 4 1901092 1901092 single base substitution C T 5_prime_UTR_variant LIRI-JP 4 1901092 1901092 single base substitution C T intron_variant LIRI-JP 4 1901092 1901092 single base substitution C T upstream_gene_variant LIRI-JP 4 1903048 1903048 single base substitution C T downstream_gene_variant LIRI-JP 4 1903048 1903048 single base substitution C T intron_variant LIRI-JP 4 1907826 1907826 single base substitution G A downstream_gene_variant LIRI-JP 4 1907826 1907826 single base substitution G A intron_variant LIRI-JP 4 1909585 1909585 single base substitution A G intron_variant LIRI-JP 4 1912133 1912133 single base substitution C T intron_variant LIRI-JP 4 1913230 1913230 single base substitution G C intron_variant LIRI-JP 4 1921495 1921495 single base substitution C T downstream_gene_variant LIRI-JP 4 1921495 1921495 single base substitution C T intron_variant LIRI-JP 4 1921748 1921748 single base substitution A G downstream_gene_variant LIRI-JP 4 1921748 1921748 single base substitution A G intron_variant LIRI-JP 4 1922955 1922955 single base substitution C T downstream_gene_variant LIRI-JP 4 1922955 1922955 single base substitution C T intron_variant LIRI-JP 4 1923741 1923741 single base substitution G T downstream_gene_variant LIRI-JP 4 1923741 1923741 single base substitution G T intron_variant LIRI-JP 4 1924770 1924770 single base substitution G A downstream_gene_variant LIRI-JP 4 1924770 1924770 single base substitution G A intron_variant LIRI-JP 4 1925188 1925188 single base substitution T G downstream_gene_variant LIRI-JP 4 1925188 1925188 single base substitution T G intron_variant LIRI-JP 4 1925225 1925225 single base substitution T A downstream_gene_variant LIRI-JP 4 1925225 1925225 single base substitution T A intron_variant LIRI-JP 4 1925228 1925228 single base substitution T C downstream_gene_variant LIRI-JP 4 1925228 1925228 single base substitution T C intron_variant LIRI-JP 4 1925465 1925465 single base substitution C G downstream_gene_variant LIRI-JP 4 1925465 1925465 single base substitution C G intron_variant LIRI-JP 4 1927582 1927582 single base substitution G T intron_variant LIRI-JP 4 1927582 1927582 single base substitution G T upstream_gene_variant LIRI-JP 4 1932770 1932770 single base substitution C A intron_variant LIRI-JP 4 1933908 1933908 single base substitution A G intron_variant LIRI-JP 4 1938804 1938804 single base substitution A G intron_variant LIRI-JP 4 1938804 1938804 single base substitution A G upstream_gene_variant LIRI-JP 4 1938928 1938928 single base substitution G A intron_variant LIRI-JP 4 1938928 1938928 single base substitution G A upstream_gene_variant LIRI-JP 4 1946210 1946210 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 1946210 1946210 single base substitution A G downstream_gene_variant LIRI-JP 4 1946210 1946210 single base substitution A G intron_variant LIRI-JP 4 1949225 1949225 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 1949225 1949225 single base substitution T C downstream_gene_variant LIRI-JP 4 1949225 1949225 single base substitution T C intron_variant LIRI-JP 4 1949225 1949225 single base substitution T C upstream_gene_variant LIRI-JP 4 1950005 1950005 single base substitution C A 3_prime_UTR_variant LIRI-JP 4 1950005 1950005 single base substitution C A intron_variant LIRI-JP 4 1950005 1950005 single base substitution C A upstream_gene_variant LIRI-JP 4 1950199 1950199 single base substitution G A 3_prime_UTR_variant LIRI-JP 4 1950199 1950199 single base substitution G A intron_variant LIRI-JP 4 1950199 1950199 single base substitution G A upstream_gene_variant LIRI-JP 4 1950237 1950237 single base substitution A T 3_prime_UTR_variant LIRI-JP 4 1950237 1950237 single base substitution A T intron_variant LIRI-JP 4 1950237 1950237 single base substitution A T upstream_gene_variant LIRI-JP 4 1952455 1952455 single base substitution G T downstream_gene_variant LIRI-JP 4 1952455 1952455 single base substitution G T intron_variant LIRI-JP 4 1952455 1952455 single base substitution G T upstream_gene_variant LIRI-JP 4 1953850 1953850 single base substitution G A 3_prime_UTR_variant LIRI-JP 4 1953850 1953850 single base substitution G A 5_prime_UTR_variant LIRI-JP 4 1953850 1953850 single base substitution G A downstream_gene_variant LIRI-JP 4 1953850 1953850 single base substitution G A exon_variant LIRI-JP 4 1953850 1953850 single base substitution G A intron_variant LIRI-JP 4 1953850 1953850 single base substitution G A missense_variant G677S 2029G>A LIRI-JP 4 1953850 1953850 single base substitution G A missense_variant G89S 265G>A LIRI-JP 4 1953850 1953850 single base substitution G A upstream_gene_variant LIRI-JP 4 1955761 1955761 single base substitution G A downstream_gene_variant LIRI-JP 4 1955761 1955761 single base substitution G A intron_variant LIRI-JP 4 1955761 1955761 single base substitution G A upstream_gene_variant LIRI-JP 4 1956425 1956425 single base substitution C T downstream_gene_variant LIRI-JP 4 1956425 1956425 single base substitution C T intron_variant LIRI-JP 4 1956425 1956425 single base substitution C T upstream_gene_variant LIRI-JP 4 1958303 1958303 single base substitution G T downstream_gene_variant LIRI-JP 4 1958303 1958303 single base substitution G T intron_variant LIRI-JP 4 1972590 1972590 single base substitution A G intron_variant LIRI-JP 4 1972590 1972590 single base substitution A G upstream_gene_variant LIRI-JP 4 1975412 1975412 single base substitution G A intron_variant LIRI-JP 4 1975412 1975412 single base substitution G A upstream_gene_variant LIRI-JP 4 1979003 1979003 single base substitution A C downstream_gene_variant LIRI-JP 4 1979003 1979003 single base substitution A C intron_variant LIRI-JP 4 1979469 1979469 single base substitution A T downstream_gene_variant LIRI-JP 4 1979469 1979469 single base substitution A T intron_variant LIRI-JP 4 1981780 1981780 single base substitution C A 3_prime_UTR_variant LIRI-JP 4 1981780 1981780 single base substitution C A downstream_gene_variant LIRI-JP 4 1986749 1986749 single base substitution C T downstream_gene_variant LUSC-KR 4 1876587 1876587 single base substitution C T intron_variant LUSC-KR 4 1877447 1877447 single base substitution A G intron_variant LUSC-KR 4 1879786 1879786 single base substitution A T intron_variant LUSC-KR 4 1879976 1879976 single base substitution A T intron_variant LUSC-KR 4 1892382 1892382 single base substitution A G intron_variant LUSC-KR 4 1892382 1892382 single base substitution A G upstream_gene_variant LUSC-KR 4 1892398 1892398 single base substitution G A intron_variant LUSC-KR 4 1892398 1892398 single base substitution G A upstream_gene_variant LUSC-KR 4 1892531 1892531 single base substitution G T intron_variant LUSC-KR 4 1892531 1892531 single base substitution G T upstream_gene_variant LUSC-KR 4 1899956 1899956 single base substitution G A intron_variant LUSC-KR 4 1899956 1899956 single base substitution G A upstream_gene_variant LUSC-KR 4 1902306 1902306 single base substitution A T intron_variant LUSC-KR 4 1902306 1902306 single base substitution A T upstream_gene_variant LUSC-KR 4 1903922 1903922 single base substitution C A downstream_gene_variant LUSC-KR 4 1903922 1903922 single base substitution C A intron_variant LUSC-KR 4 1918531 1918531 single base substitution A G downstream_gene_variant LUSC-KR 4 1918531 1918531 single base substitution A G intron_variant LUSC-KR 4 1918531 1918531 single base substitution A G upstream_gene_variant LUSC-KR 4 1923708 1923708 single base substitution C G downstream_gene_variant LUSC-KR 4 1923708 1923708 single base substitution C G intron_variant LUSC-KR 4 1927745 1927745 single base substitution G A intron_variant LUSC-KR 4 1927745 1927745 single base substitution G A upstream_gene_variant LUSC-KR 4 1929912 1929912 single base substitution G C intron_variant LUSC-KR 4 1929912 1929912 single base substitution G C upstream_gene_variant LUSC-KR 4 1935132 1935132 single base substitution G A intron_variant LUSC-KR 4 1940067 1940067 single base substitution A T intron_variant LUSC-KR 4 1940067 1940067 single base substitution A T upstream_gene_variant LUSC-KR 4 1956687 1956687 single base substitution G T downstream_gene_variant LUSC-KR 4 1956687 1956687 single base substitution G T intron_variant LUSC-KR 4 1956687 1956687 single base substitution G T upstream_gene_variant LUSC-KR 4 1957775 1957775 single base substitution A G 3_prime_UTR_variant LUSC-KR 4 1957775 1957775 single base substitution A G downstream_gene_variant LUSC-KR 4 1957775 1957775 single base substitution A G exon_variant LUSC-KR 4 1957775 1957775 single base substitution A G missense_variant E237G 710A>G LUSC-KR 4 1957775 1957775 single base substitution A G missense_variant E262G 785A>G LUSC-KR 4 1957775 1957775 single base substitution A G missense_variant E914G 2741A>G LUSC-KR 4 1960361 1960361 single base substitution T G downstream_gene_variant LUSC-KR 4 1960361 1960361 single base substitution T G intron_variant LUSC-KR 4 1972264 1972264 single base substitution G A intron_variant LUSC-KR 4 1972264 1972264 single base substitution G A upstream_gene_variant LUSC-KR 4 1978107 1978107 single base substitution C G downstream_gene_variant LUSC-KR 4 1978107 1978107 single base substitution C G exon_variant LUSC-KR 4 1978107 1978107 single base substitution C G intron_variant LUSC-KR 4 1979532 1979532 single base substitution C A downstream_gene_variant LUSC-KR 4 1979532 1979532 single base substitution C A intron_variant LUSC-KR 4 1984445 1984445 single base substitution G T downstream_gene_variant LUSC-US 4 1920071 1920071 single base substitution A T downstream_gene_variant LUSC-US 4 1920071 1920071 single base substitution A T exon_variant LUSC-US 4 1920071 1920071 single base substitution A T synonymous_variant S377S 1131A>T LUSC-US 4 1920071 1920071 single base substitution A T upstream_gene_variant LUSC-US 4 1936941 1936941 single base substitution G T exon_variant LUSC-US 4 1936941 1936941 single base substitution G T missense_variant E542D 1626G>T LUSC-US 4 1936941 1936941 single base substitution G T upstream_gene_variant LUSC-US 4 1985126 1985126 single base substitution C T downstream_gene_variant MALY-DE 4 1875481 1875481 single base substitution G T intron_variant MALY-DE 4 1881552 1881553 deletion of <=200bp TG - intron_variant MALY-DE 4 1887159 1887159 single base substitution C T intron_variant MALY-DE 4 1887159 1887159 single base substitution C T upstream_gene_variant MALY-DE 4 1896472 1896484 deletion of <=200bp TGCATTGGAATGT - intron_variant MALY-DE 4 1896472 1896484 deletion of <=200bp TGCATTGGAATGT - upstream_gene_variant MALY-DE 4 1897724 1897724 single base substitution T C intron_variant MALY-DE 4 1897724 1897724 single base substitution T C upstream_gene_variant MALY-DE 4 1902335 1902341 deletion of <=200bp TTTTTTT - intron_variant MALY-DE 4 1902335 1902341 deletion of <=200bp TTTTTTT - upstream_gene_variant MALY-DE 4 1917656 1917656 single base substitution T G downstream_gene_variant MALY-DE 4 1917656 1917656 single base substitution T G intron_variant MALY-DE 4 1917656 1917656 single base substitution T G upstream_gene_variant MALY-DE 4 1927368 1927368 single base substitution C T intron_variant MALY-DE 4 1965643 1965643 single base substitution T C intron_variant MALY-DE 4 1977081 1977081 single base substitution G A 3_prime_UTR_variant MALY-DE 4 1977081 1977081 single base substitution G A exon_variant MALY-DE 4 1977081 1977081 single base substitution G A missense_variant R1192Q 3575G>A MALY-DE 4 1977081 1977081 single base substitution G A missense_variant R540Q 1619G>A MALY-DE 4 1977081 1977081 single base substitution G A upstream_gene_variant MALY-DE 4 1982539 1982539 single base substitution T A 3_prime_UTR_variant MALY-DE 4 1982539 1982539 single base substitution T A downstream_gene_variant MELA-AU 4 1868487 1868487 single base substitution C T upstream_gene_variant MELA-AU 4 1869077 1869077 single base substitution C T upstream_gene_variant MELA-AU 4 1869542 1869543 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 1869650 1869650 single base substitution C T upstream_gene_variant MELA-AU 4 1869823 1869823 single base substitution G T upstream_gene_variant MELA-AU 4 1871048 1871048 single base substitution G A upstream_gene_variant MELA-AU 4 1871456 1871456 single base substitution C T upstream_gene_variant MELA-AU 4 1874619 1874619 single base substitution C T intron_variant MELA-AU 4 1875221 1875221 single base substitution C T intron_variant MELA-AU 4 1875386 1875386 single base substitution G A intron_variant MELA-AU 4 1876086 1876087 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 1877094 1877094 single base substitution G A intron_variant MELA-AU 4 1877337 1877337 single base substitution C T intron_variant MELA-AU 4 1877338 1877338 single base substitution C T intron_variant MELA-AU 4 1877626 1877626 single base substitution T A intron_variant MELA-AU 4 1877651 1877651 single base substitution G A intron_variant MELA-AU 4 1878303 1878303 single base substitution C T intron_variant MELA-AU 4 1879010 1879010 single base substitution C T intron_variant MELA-AU 4 1879059 1879059 single base substitution C T intron_variant MELA-AU 4 1879114 1879114 single base substitution C T intron_variant MELA-AU 4 1879980 1879980 single base substitution T A intron_variant MELA-AU 4 1880272 1880272 single base substitution C T intron_variant MELA-AU 4 1880726 1880726 single base substitution G A intron_variant MELA-AU 4 1880728 1880728 single base substitution G A intron_variant MELA-AU 4 1881785 1881785 single base substitution C T intron_variant MELA-AU 4 1882410 1882410 single base substitution G A intron_variant MELA-AU 4 1882478 1882478 single base substitution A G intron_variant MELA-AU 4 1882892 1882892 single base substitution C T intron_variant MELA-AU 4 1883190 1883190 single base substitution C T intron_variant MELA-AU 4 1883249 1883249 single base substitution C T intron_variant MELA-AU 4 1883901 1883901 single base substitution C T intron_variant MELA-AU 4 1884496 1884496 single base substitution G A intron_variant MELA-AU 4 1884496 1884496 single base substitution G A upstream_gene_variant MELA-AU 4 1886001 1886001 single base substitution C A intron_variant MELA-AU 4 1886001 1886001 single base substitution C A upstream_gene_variant MELA-AU 4 1886121 1886121 single base substitution C T intron_variant MELA-AU 4 1886121 1886121 single base substitution C T upstream_gene_variant MELA-AU 4 1887085 1887085 single base substitution T G intron_variant MELA-AU 4 1887085 1887085 single base substitution T G upstream_gene_variant MELA-AU 4 1887259 1887266 deletion of <=200bp ATGTATTT - intron_variant MELA-AU 4 1887259 1887266 deletion of <=200bp ATGTATTT - upstream_gene_variant MELA-AU 4 1887525 1887525 single base substitution C T intron_variant MELA-AU 4 1887525 1887525 single base substitution C T upstream_gene_variant MELA-AU 4 1887540 1887540 single base substitution C T intron_variant MELA-AU 4 1887540 1887540 single base substitution C T upstream_gene_variant MELA-AU 4 1887741 1887741 single base substitution G A intron_variant MELA-AU 4 1887741 1887741 single base substitution G A upstream_gene_variant MELA-AU 4 1888056 1888056 single base substitution C T intron_variant MELA-AU 4 1888056 1888056 single base substitution C T upstream_gene_variant MELA-AU 4 1888558 1888558 single base substitution C T intron_variant MELA-AU 4 1888558 1888558 single base substitution C T upstream_gene_variant MELA-AU 4 1888563 1888563 single base substitution T G intron_variant MELA-AU 4 1888563 1888563 single base substitution T G upstream_gene_variant MELA-AU 4 1888564 1888564 single base substitution C T intron_variant MELA-AU 4 1888564 1888564 single base substitution C T upstream_gene_variant MELA-AU 4 1888888 1888888 single base substitution T C intron_variant MELA-AU 4 1888888 1888888 single base substitution T C upstream_gene_variant MELA-AU 4 1890772 1890772 single base substitution C T intron_variant MELA-AU 4 1890772 1890772 single base substitution C T upstream_gene_variant MELA-AU 4 1890948 1890948 single base substitution G A intron_variant MELA-AU 4 1890948 1890948 single base substitution G A upstream_gene_variant MELA-AU 4 1890971 1890971 single base substitution T C intron_variant MELA-AU 4 1890971 1890971 single base substitution T C upstream_gene_variant MELA-AU 4 1891339 1891339 single base substitution C T intron_variant MELA-AU 4 1891339 1891339 single base substitution C T upstream_gene_variant MELA-AU 4 1891581 1891581 single base substitution T C intron_variant MELA-AU 4 1891581 1891581 single base substitution T C upstream_gene_variant MELA-AU 4 1892370 1892370 single base substitution C T intron_variant MELA-AU 4 1892370 1892370 single base substitution C T upstream_gene_variant MELA-AU 4 1892538 1892538 single base substitution T C intron_variant MELA-AU 4 1892538 1892538 single base substitution T C upstream_gene_variant MELA-AU 4 1892866 1892866 single base substitution C T intron_variant MELA-AU 4 1892866 1892866 single base substitution C T upstream_gene_variant MELA-AU 4 1893302 1893302 single base substitution G A intron_variant MELA-AU 4 1893302 1893302 single base substitution G A upstream_gene_variant MELA-AU 4 1895403 1895403 single base substitution C T intron_variant MELA-AU 4 1895468 1895468 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 1895468 1895468 single base substitution C T intron_variant MELA-AU 4 1895652 1895652 single base substitution C T intron_variant MELA-AU 4 1896648 1896648 single base substitution T A intron_variant MELA-AU 4 1896648 1896648 single base substitution T A upstream_gene_variant MELA-AU 4 1897070 1897070 single base substitution C T intron_variant MELA-AU 4 1897070 1897070 single base substitution C T upstream_gene_variant MELA-AU 4 1897348 1897348 single base substitution C T intron_variant MELA-AU 4 1897348 1897348 single base substitution C T upstream_gene_variant MELA-AU 4 1897769 1897769 single base substitution C T intron_variant MELA-AU 4 1897769 1897769 single base substitution C T upstream_gene_variant MELA-AU 4 1898412 1898412 single base substitution C T intron_variant MELA-AU 4 1898412 1898412 single base substitution C T upstream_gene_variant MELA-AU 4 1898498 1898498 single base substitution C T intron_variant MELA-AU 4 1898498 1898498 single base substitution C T upstream_gene_variant MELA-AU 4 1898608 1898608 single base substitution A T intron_variant MELA-AU 4 1898608 1898608 single base substitution A T upstream_gene_variant MELA-AU 4 1898834 1898834 single base substitution T C intron_variant MELA-AU 4 1898834 1898834 single base substitution T C upstream_gene_variant MELA-AU 4 1899725 1899725 single base substitution C T intron_variant MELA-AU 4 1899725 1899725 single base substitution C T upstream_gene_variant MELA-AU 4 1899748 1899748 single base substitution C T intron_variant MELA-AU 4 1899748 1899748 single base substitution C T upstream_gene_variant MELA-AU 4 1900700 1900700 single base substitution C T intron_variant MELA-AU 4 1900700 1900700 single base substitution C T upstream_gene_variant MELA-AU 4 1900801 1900801 single base substitution T A intron_variant MELA-AU 4 1900801 1900801 single base substitution T A upstream_gene_variant MELA-AU 4 1901283 1901283 single base substitution G A intron_variant MELA-AU 4 1901283 1901283 single base substitution G A upstream_gene_variant MELA-AU 4 1902686 1902686 single base substitution C T downstream_gene_variant MELA-AU 4 1902686 1902686 single base substitution C T exon_variant MELA-AU 4 1902686 1902686 single base substitution C T missense_variant S102F 305C>T MELA-AU 4 1903461 1903461 single base substitution C T downstream_gene_variant MELA-AU 4 1903461 1903461 single base substitution C T intron_variant MELA-AU 4 1903948 1903948 single base substitution A T downstream_gene_variant MELA-AU 4 1903948 1903948 single base substitution A T intron_variant MELA-AU 4 1905393 1905393 single base substitution C T downstream_gene_variant MELA-AU 4 1905393 1905393 single base substitution C T intron_variant MELA-AU 4 1905492 1905492 single base substitution C T downstream_gene_variant MELA-AU 4 1905492 1905492 single base substitution C T intron_variant MELA-AU 4 1906606 1906606 single base substitution C T downstream_gene_variant MELA-AU 4 1906606 1906606 single base substitution C T intron_variant MELA-AU 4 1907182 1907183 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 4 1907182 1907183 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 4 1907505 1907505 single base substitution G A downstream_gene_variant MELA-AU 4 1907505 1907505 single base substitution G A intron_variant MELA-AU 4 1907596 1907596 single base substitution C T downstream_gene_variant MELA-AU 4 1907596 1907596 single base substitution C T intron_variant MELA-AU 4 1908870 1908870 single base substitution C T intron_variant MELA-AU 4 1908895 1908895 single base substitution G T intron_variant MELA-AU 4 1908939 1908939 single base substitution G C intron_variant MELA-AU 4 1909072 1909072 single base substitution C T intron_variant MELA-AU 4 1909149 1909149 single base substitution C T intron_variant MELA-AU 4 1909378 1909378 single base substitution C T intron_variant MELA-AU 4 1909596 1909596 single base substitution C T intron_variant MELA-AU 4 1910102 1910102 single base substitution C T intron_variant MELA-AU 4 1910966 1910966 single base substitution C T intron_variant MELA-AU 4 1911076 1911076 single base substitution C T intron_variant MELA-AU 4 1911182 1911182 single base substitution C T intron_variant MELA-AU 4 1912002 1912002 single base substitution G A intron_variant MELA-AU 4 1912441 1912441 single base substitution C T intron_variant MELA-AU 4 1912728 1912728 single base substitution C T intron_variant MELA-AU 4 1912986 1912986 single base substitution T A intron_variant MELA-AU 4 1913441 1913441 single base substitution C T intron_variant MELA-AU 4 1913614 1913614 single base substitution C T intron_variant MELA-AU 4 1913895 1913895 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1913895 1913895 single base substitution C T downstream_gene_variant MELA-AU 4 1913895 1913895 single base substitution C T intron_variant MELA-AU 4 1914062 1914062 single base substitution C T downstream_gene_variant MELA-AU 4 1914062 1914062 single base substitution C T intron_variant MELA-AU 4 1914199 1914200 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 4 1914199 1914200 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 4 1914905 1914905 single base substitution C T downstream_gene_variant MELA-AU 4 1914905 1914905 single base substitution C T intron_variant MELA-AU 4 1915068 1915069 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 1915068 1915069 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 1915183 1915183 single base substitution C T downstream_gene_variant MELA-AU 4 1915183 1915183 single base substitution C T intron_variant MELA-AU 4 1915183 1915183 single base substitution C T upstream_gene_variant MELA-AU 4 1916175 1916175 single base substitution C T downstream_gene_variant MELA-AU 4 1916175 1916175 single base substitution C T intron_variant MELA-AU 4 1916175 1916175 single base substitution C T upstream_gene_variant MELA-AU 4 1917076 1917076 single base substitution C T downstream_gene_variant MELA-AU 4 1917076 1917076 single base substitution C T intron_variant MELA-AU 4 1917076 1917076 single base substitution C T upstream_gene_variant MELA-AU 4 1917685 1917685 single base substitution C T downstream_gene_variant MELA-AU 4 1917685 1917685 single base substitution C T intron_variant MELA-AU 4 1917685 1917685 single base substitution C T upstream_gene_variant MELA-AU 4 1920126 1920126 single base substitution C T downstream_gene_variant MELA-AU 4 1920126 1920126 single base substitution C T exon_variant MELA-AU 4 1920126 1920126 single base substitution C T missense_variant P396S 1186C>T MELA-AU 4 1920126 1920126 single base substitution C T upstream_gene_variant MELA-AU 4 1920371 1920371 single base substitution C T downstream_gene_variant MELA-AU 4 1920371 1920371 single base substitution C T exon_variant MELA-AU 4 1920371 1920371 single base substitution C T intron_variant MELA-AU 4 1920670 1920670 single base substitution T G downstream_gene_variant MELA-AU 4 1920670 1920670 single base substitution T G exon_variant MELA-AU 4 1920670 1920670 single base substitution T G intron_variant MELA-AU 4 1921700 1921700 single base substitution C T downstream_gene_variant MELA-AU 4 1921700 1921700 single base substitution C T intron_variant MELA-AU 4 1921835 1921835 single base substitution C T downstream_gene_variant MELA-AU 4 1921835 1921835 single base substitution C T intron_variant MELA-AU 4 1922385 1922386 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 1922385 1922386 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 1923070 1923070 single base substitution C T downstream_gene_variant MELA-AU 4 1923070 1923070 single base substitution C T intron_variant MELA-AU 4 1923140 1923140 single base substitution C T downstream_gene_variant MELA-AU 4 1923140 1923140 single base substitution C T intron_variant MELA-AU 4 1924239 1924239 single base substitution T A downstream_gene_variant MELA-AU 4 1924239 1924239 single base substitution T A intron_variant MELA-AU 4 1925141 1925141 single base substitution A C downstream_gene_variant MELA-AU 4 1925141 1925141 single base substitution A C intron_variant MELA-AU 4 1925668 1925668 single base substitution C T downstream_gene_variant MELA-AU 4 1925668 1925668 single base substitution C T intron_variant MELA-AU 4 1926929 1926929 single base substitution G C intron_variant MELA-AU 4 1927930 1927930 single base substitution G T intron_variant MELA-AU 4 1927930 1927930 single base substitution G T upstream_gene_variant MELA-AU 4 1928194 1928194 single base substitution A T intron_variant MELA-AU 4 1928194 1928194 single base substitution A T upstream_gene_variant MELA-AU 4 1928553 1928553 single base substitution C T intron_variant MELA-AU 4 1928553 1928553 single base substitution C T upstream_gene_variant MELA-AU 4 1928850 1928851 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 4 1928850 1928851 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 4 1929099 1929099 single base substitution G A intron_variant MELA-AU 4 1929099 1929099 single base substitution G A upstream_gene_variant MELA-AU 4 1929478 1929478 single base substitution C T intron_variant MELA-AU 4 1929478 1929478 single base substitution C T upstream_gene_variant MELA-AU 4 1929887 1929888 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 1929887 1929888 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 1930496 1930496 single base substitution C T intron_variant MELA-AU 4 1930496 1930496 single base substitution C T upstream_gene_variant MELA-AU 4 1930593 1930594 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 1930593 1930594 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 1930829 1930829 single base substitution T C intron_variant MELA-AU 4 1930829 1930829 single base substitution T C upstream_gene_variant MELA-AU 4 1931679 1931679 single base substitution C T intron_variant MELA-AU 4 1931679 1931679 single base substitution C T upstream_gene_variant MELA-AU 4 1932347 1932347 single base substitution C T splice_region_variant MELA-AU 4 1932347 1932347 single base substitution C T upstream_gene_variant MELA-AU 4 1933060 1933060 single base substitution C T intron_variant MELA-AU 4 1933552 1933552 single base substitution G A intron_variant MELA-AU 4 1933558 1933558 single base substitution A T intron_variant MELA-AU 4 1933599 1933599 single base substitution C T intron_variant MELA-AU 4 1933869 1933869 single base substitution A C intron_variant MELA-AU 4 1934585 1934585 single base substitution C G intron_variant MELA-AU 4 1934779 1934779 single base substitution C T intron_variant MELA-AU 4 1935378 1935378 single base substitution C T intron_variant MELA-AU 4 1935760 1935760 single base substitution C T intron_variant MELA-AU 4 1936859 1936859 single base substitution C T intron_variant MELA-AU 4 1936859 1936859 single base substitution C T upstream_gene_variant MELA-AU 4 1936862 1936862 single base substitution C T intron_variant MELA-AU 4 1936862 1936862 single base substitution C T upstream_gene_variant MELA-AU 4 1937057 1937057 single base substitution C T intron_variant MELA-AU 4 1937057 1937057 single base substitution C T upstream_gene_variant MELA-AU 4 1937263 1937263 single base substitution T C intron_variant MELA-AU 4 1937263 1937263 single base substitution T C upstream_gene_variant MELA-AU 4 1937610 1937610 single base substitution C T intron_variant MELA-AU 4 1937610 1937610 single base substitution C T upstream_gene_variant MELA-AU 4 1937679 1937679 single base substitution C T intron_variant MELA-AU 4 1937679 1937679 single base substitution C T upstream_gene_variant MELA-AU 4 1937840 1937840 single base substitution C T intron_variant MELA-AU 4 1937840 1937840 single base substitution C T upstream_gene_variant MELA-AU 4 1938187 1938187 single base substitution C T intron_variant MELA-AU 4 1938187 1938187 single base substitution C T upstream_gene_variant MELA-AU 4 1938464 1938464 single base substitution C T intron_variant MELA-AU 4 1938464 1938464 single base substitution C T upstream_gene_variant MELA-AU 4 1938632 1938632 single base substitution G A intron_variant MELA-AU 4 1938632 1938632 single base substitution G A upstream_gene_variant MELA-AU 4 1939038 1939038 single base substitution C T intron_variant MELA-AU 4 1939038 1939038 single base substitution C T upstream_gene_variant MELA-AU 4 1939732 1939732 single base substitution G T intron_variant MELA-AU 4 1939732 1939732 single base substitution G T upstream_gene_variant MELA-AU 4 1941245 1941245 single base substitution G A exon_variant MELA-AU 4 1941245 1941245 single base substitution G A intron_variant MELA-AU 4 1941245 1941245 single base substitution G A upstream_gene_variant MELA-AU 4 1941274 1941274 single base substitution C T exon_variant MELA-AU 4 1941274 1941274 single base substitution C T intron_variant MELA-AU 4 1941274 1941274 single base substitution C T upstream_gene_variant MELA-AU 4 1941727 1941727 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1941727 1941727 single base substitution C T intron_variant MELA-AU 4 1941768 1941768 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1941768 1941768 single base substitution C T intron_variant MELA-AU 4 1941933 1941933 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1941933 1941933 single base substitution C T intron_variant MELA-AU 4 1943115 1943115 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1943115 1943115 single base substitution C T intron_variant MELA-AU 4 1943388 1943388 single base substitution G A 3_prime_UTR_variant MELA-AU 4 1943388 1943388 single base substitution G A intron_variant MELA-AU 4 1943613 1943613 single base substitution T C 3_prime_UTR_variant MELA-AU 4 1943613 1943613 single base substitution T C downstream_gene_variant MELA-AU 4 1943613 1943613 single base substitution T C intron_variant MELA-AU 4 1943765 1943765 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1943765 1943765 single base substitution C T downstream_gene_variant MELA-AU 4 1943765 1943765 single base substitution C T intron_variant MELA-AU 4 1944020 1944020 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1944020 1944020 single base substitution C T downstream_gene_variant MELA-AU 4 1944020 1944020 single base substitution C T intron_variant MELA-AU 4 1944520 1944520 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1944520 1944520 single base substitution C T downstream_gene_variant MELA-AU 4 1944520 1944520 single base substitution C T intron_variant MELA-AU 4 1944897 1944897 single base substitution T G 3_prime_UTR_variant MELA-AU 4 1944897 1944897 single base substitution T G downstream_gene_variant MELA-AU 4 1944897 1944897 single base substitution T G intron_variant MELA-AU 4 1944991 1944991 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1944991 1944991 single base substitution C T downstream_gene_variant MELA-AU 4 1944991 1944991 single base substitution C T intron_variant MELA-AU 4 1945220 1945220 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1945220 1945220 single base substitution C T downstream_gene_variant MELA-AU 4 1945220 1945220 single base substitution C T intron_variant MELA-AU 4 1945257 1945257 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1945257 1945257 single base substitution C T downstream_gene_variant MELA-AU 4 1945257 1945257 single base substitution C T intron_variant MELA-AU 4 1946275 1946275 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1946275 1946275 single base substitution C T downstream_gene_variant MELA-AU 4 1946275 1946275 single base substitution C T intron_variant MELA-AU 4 1946644 1946644 single base substitution A C 3_prime_UTR_variant MELA-AU 4 1946644 1946644 single base substitution A C downstream_gene_variant MELA-AU 4 1946644 1946644 single base substitution A C intron_variant MELA-AU 4 1946890 1946890 single base substitution A G 3_prime_UTR_variant MELA-AU 4 1946890 1946890 single base substitution A G downstream_gene_variant MELA-AU 4 1946890 1946890 single base substitution A G intron_variant MELA-AU 4 1947810 1947810 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1947810 1947810 single base substitution C T downstream_gene_variant MELA-AU 4 1947810 1947810 single base substitution C T intron_variant MELA-AU 4 1947877 1947877 single base substitution T C 3_prime_UTR_variant MELA-AU 4 1947877 1947877 single base substitution T C downstream_gene_variant MELA-AU 4 1947877 1947877 single base substitution T C intron_variant MELA-AU 4 1948237 1948237 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1948237 1948237 single base substitution C T downstream_gene_variant MELA-AU 4 1948237 1948237 single base substitution C T intron_variant MELA-AU 4 1948370 1948371 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 4 1948370 1948371 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 1948370 1948371 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 1948456 1948456 single base substitution T C 3_prime_UTR_variant MELA-AU 4 1948456 1948456 single base substitution T C downstream_gene_variant MELA-AU 4 1948456 1948456 single base substitution T C intron_variant MELA-AU 4 1948604 1948604 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1948604 1948604 single base substitution C T downstream_gene_variant MELA-AU 4 1948604 1948604 single base substitution C T intron_variant MELA-AU 4 1948908 1948908 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1948908 1948908 single base substitution C T downstream_gene_variant MELA-AU 4 1948908 1948908 single base substitution C T intron_variant MELA-AU 4 1948908 1948908 single base substitution C T upstream_gene_variant MELA-AU 4 1949178 1949178 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1949178 1949178 single base substitution C T downstream_gene_variant MELA-AU 4 1949178 1949178 single base substitution C T intron_variant MELA-AU 4 1949178 1949178 single base substitution C T upstream_gene_variant MELA-AU 4 1949192 1949192 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1949192 1949192 single base substitution C T downstream_gene_variant MELA-AU 4 1949192 1949192 single base substitution C T intron_variant MELA-AU 4 1949192 1949192 single base substitution C T upstream_gene_variant MELA-AU 4 1949800 1949800 single base substitution G A 3_prime_UTR_variant MELA-AU 4 1949800 1949800 single base substitution G A intron_variant MELA-AU 4 1949800 1949800 single base substitution G A upstream_gene_variant MELA-AU 4 1950005 1950005 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1950005 1950005 single base substitution C T intron_variant MELA-AU 4 1950005 1950005 single base substitution C T upstream_gene_variant MELA-AU 4 1950243 1950243 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1950243 1950243 single base substitution C T intron_variant MELA-AU 4 1950243 1950243 single base substitution C T upstream_gene_variant MELA-AU 4 1950394 1950394 single base substitution T G 3_prime_UTR_variant MELA-AU 4 1950394 1950394 single base substitution T G intron_variant MELA-AU 4 1950394 1950394 single base substitution T G upstream_gene_variant MELA-AU 4 1950458 1950458 single base substitution G A 3_prime_UTR_variant MELA-AU 4 1950458 1950458 single base substitution G A intron_variant MELA-AU 4 1950458 1950458 single base substitution G A upstream_gene_variant MELA-AU 4 1950683 1950683 single base substitution C T downstream_gene_variant MELA-AU 4 1950683 1950683 single base substitution C T intron_variant MELA-AU 4 1950683 1950683 single base substitution C T upstream_gene_variant MELA-AU 4 1951048 1951048 single base substitution C T downstream_gene_variant MELA-AU 4 1951048 1951048 single base substitution C T intron_variant MELA-AU 4 1951048 1951048 single base substitution C T upstream_gene_variant MELA-AU 4 1951225 1951225 single base substitution C T downstream_gene_variant MELA-AU 4 1951225 1951225 single base substitution C T intron_variant MELA-AU 4 1951225 1951225 single base substitution C T upstream_gene_variant MELA-AU 4 1951583 1951583 single base substitution C T downstream_gene_variant MELA-AU 4 1951583 1951583 single base substitution C T intron_variant MELA-AU 4 1951583 1951583 single base substitution C T upstream_gene_variant MELA-AU 4 1952186 1952186 single base substitution G A downstream_gene_variant MELA-AU 4 1952186 1952186 single base substitution G A intron_variant MELA-AU 4 1952186 1952186 single base substitution G A upstream_gene_variant MELA-AU 4 1952827 1952827 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1952827 1952827 single base substitution C T downstream_gene_variant MELA-AU 4 1952827 1952827 single base substitution C T exon_variant MELA-AU 4 1952827 1952827 single base substitution C T missense_variant S49L 146C>T MELA-AU 4 1952827 1952827 single base substitution C T missense_variant S637L 1910C>T MELA-AU 4 1952827 1952827 single base substitution C T upstream_gene_variant MELA-AU 4 1952878 1952878 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1952878 1952878 single base substitution C T downstream_gene_variant MELA-AU 4 1952878 1952878 single base substitution C T exon_variant MELA-AU 4 1952878 1952878 single base substitution C T missense_variant S654L 1961C>T MELA-AU 4 1952878 1952878 single base substitution C T missense_variant S66L 197C>T MELA-AU 4 1952878 1952878 single base substitution C T upstream_gene_variant MELA-AU 4 1952909 1952909 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1952909 1952909 single base substitution C T downstream_gene_variant MELA-AU 4 1952909 1952909 single base substitution C T exon_variant MELA-AU 4 1952909 1952909 single base substitution C T synonymous_variant A664A 1992C>T MELA-AU 4 1952909 1952909 single base substitution C T synonymous_variant A76A 228C>T MELA-AU 4 1952909 1952909 single base substitution C T upstream_gene_variant MELA-AU 4 1953014 1953014 single base substitution C T downstream_gene_variant MELA-AU 4 1953014 1953014 single base substitution C T intron_variant MELA-AU 4 1953014 1953014 single base substitution C T upstream_gene_variant MELA-AU 4 1953036 1953036 single base substitution C T downstream_gene_variant MELA-AU 4 1953036 1953036 single base substitution C T intron_variant MELA-AU 4 1953036 1953036 single base substitution C T upstream_gene_variant MELA-AU 4 1953049 1953049 single base substitution C T downstream_gene_variant MELA-AU 4 1953049 1953049 single base substitution C T intron_variant MELA-AU 4 1953049 1953049 single base substitution C T upstream_gene_variant MELA-AU 4 1953770 1953770 single base substitution C T downstream_gene_variant MELA-AU 4 1953770 1953770 single base substitution C T exon_variant MELA-AU 4 1953770 1953770 single base substitution C T intron_variant MELA-AU 4 1953770 1953770 single base substitution C T upstream_gene_variant MELA-AU 4 1954130 1954130 single base substitution C T downstream_gene_variant MELA-AU 4 1954130 1954130 single base substitution C T intron_variant MELA-AU 4 1954130 1954130 single base substitution C T upstream_gene_variant MELA-AU 4 1955743 1955743 single base substitution C T downstream_gene_variant MELA-AU 4 1955743 1955743 single base substitution C T intron_variant MELA-AU 4 1955743 1955743 single base substitution C T upstream_gene_variant MELA-AU 4 1955833 1955833 single base substitution C T downstream_gene_variant MELA-AU 4 1955833 1955833 single base substitution C T intron_variant MELA-AU 4 1955833 1955833 single base substitution C T upstream_gene_variant MELA-AU 4 1956124 1956124 single base substitution C T downstream_gene_variant MELA-AU 4 1956124 1956124 single base substitution C T intron_variant MELA-AU 4 1956124 1956124 single base substitution C T upstream_gene_variant MELA-AU 4 1956324 1956324 single base substitution C T downstream_gene_variant MELA-AU 4 1956324 1956324 single base substitution C T exon_variant MELA-AU 4 1956324 1956324 single base substitution C T intron_variant MELA-AU 4 1956324 1956324 single base substitution C T upstream_gene_variant MELA-AU 4 1956760 1956760 single base substitution C T downstream_gene_variant MELA-AU 4 1956760 1956760 single base substitution C T intron_variant MELA-AU 4 1956760 1956760 single base substitution C T upstream_gene_variant MELA-AU 4 1956775 1956775 single base substitution C T downstream_gene_variant MELA-AU 4 1956775 1956775 single base substitution C T intron_variant MELA-AU 4 1956775 1956775 single base substitution C T upstream_gene_variant MELA-AU 4 1957110 1957110 single base substitution C T downstream_gene_variant MELA-AU 4 1957110 1957110 single base substitution C T intron_variant MELA-AU 4 1957110 1957110 single base substitution C T upstream_gene_variant MELA-AU 4 1957282 1957282 single base substitution C T downstream_gene_variant MELA-AU 4 1957282 1957282 single base substitution C T intron_variant MELA-AU 4 1957282 1957282 single base substitution C T upstream_gene_variant MELA-AU 4 1957776 1957776 single base substitution G A 3_prime_UTR_variant MELA-AU 4 1957776 1957776 single base substitution G A downstream_gene_variant MELA-AU 4 1957776 1957776 single base substitution G A exon_variant MELA-AU 4 1957776 1957776 single base substitution G A synonymous_variant E237E 711G>A MELA-AU 4 1957776 1957776 single base substitution G A synonymous_variant E262E 786G>A MELA-AU 4 1957776 1957776 single base substitution G A synonymous_variant E914E 2742G>A MELA-AU 4 1958340 1958340 single base substitution C T downstream_gene_variant MELA-AU 4 1958340 1958340 single base substitution C T intron_variant MELA-AU 4 1958341 1958341 single base substitution C T downstream_gene_variant MELA-AU 4 1958341 1958341 single base substitution C T intron_variant MELA-AU 4 1958348 1958348 deletion of <=200bp G - downstream_gene_variant MELA-AU 4 1958348 1958348 deletion of <=200bp G - intron_variant MELA-AU 4 1958615 1958615 single base substitution C T downstream_gene_variant MELA-AU 4 1958615 1958615 single base substitution C T intron_variant MELA-AU 4 1959101 1959101 single base substitution C T downstream_gene_variant MELA-AU 4 1959101 1959101 single base substitution C T intron_variant MELA-AU 4 1960212 1960212 single base substitution C T downstream_gene_variant MELA-AU 4 1960212 1960212 single base substitution C T intron_variant MELA-AU 4 1960383 1960383 single base substitution C T downstream_gene_variant MELA-AU 4 1960383 1960383 single base substitution C T intron_variant MELA-AU 4 1961591 1961591 single base substitution T A downstream_gene_variant MELA-AU 4 1961591 1961591 single base substitution T A intron_variant MELA-AU 4 1961622 1961622 single base substitution C T downstream_gene_variant MELA-AU 4 1961622 1961622 single base substitution C T intron_variant MELA-AU 4 1962264 1962264 single base substitution C T downstream_gene_variant MELA-AU 4 1962264 1962264 single base substitution C T intron_variant MELA-AU 4 1962797 1962797 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1962797 1962797 single base substitution C T downstream_gene_variant MELA-AU 4 1962797 1962797 single base substitution C T exon_variant MELA-AU 4 1962797 1962797 single base substitution C T synonymous_variant I1097I 3291C>T MELA-AU 4 1962797 1962797 single base substitution C T synonymous_variant I445I 1335C>T MELA-AU 4 1965013 1965013 single base substitution C T intron_variant MELA-AU 4 1965440 1965440 single base substitution C T intron_variant MELA-AU 4 1965794 1965794 single base substitution C T intron_variant MELA-AU 4 1966009 1966009 single base substitution C T intron_variant MELA-AU 4 1966993 1966993 single base substitution A T intron_variant MELA-AU 4 1966995 1966995 single base substitution C A intron_variant MELA-AU 4 1967207 1967207 single base substitution C T intron_variant MELA-AU 4 1967292 1967292 single base substitution G A intron_variant MELA-AU 4 1967725 1967725 single base substitution C T intron_variant MELA-AU 4 1969095 1969095 single base substitution A G intron_variant MELA-AU 4 1969708 1969708 single base substitution C T intron_variant MELA-AU 4 1970899 1970899 single base substitution G T intron_variant MELA-AU 4 1971424 1971424 single base substitution C T intron_variant MELA-AU 4 1971800 1971800 single base substitution C G intron_variant MELA-AU 4 1971800 1971800 single base substitution C G upstream_gene_variant MELA-AU 4 1973078 1973078 single base substitution T A intron_variant MELA-AU 4 1973078 1973078 single base substitution T A upstream_gene_variant MELA-AU 4 1973638 1973638 single base substitution T C intron_variant MELA-AU 4 1973638 1973638 single base substitution T C upstream_gene_variant MELA-AU 4 1975190 1975190 single base substitution C T intron_variant MELA-AU 4 1975190 1975190 single base substitution C T upstream_gene_variant MELA-AU 4 1977724 1977724 single base substitution C T downstream_gene_variant MELA-AU 4 1977724 1977724 single base substitution C T intron_variant MELA-AU 4 1977724 1977724 single base substitution C T upstream_gene_variant MELA-AU 4 1977725 1977725 single base substitution C G downstream_gene_variant MELA-AU 4 1977725 1977725 single base substitution C G intron_variant MELA-AU 4 1977725 1977725 single base substitution C G upstream_gene_variant MELA-AU 4 1979335 1979335 single base substitution T C downstream_gene_variant MELA-AU 4 1979335 1979335 single base substitution T C intron_variant MELA-AU 4 1979596 1979596 single base substitution T C downstream_gene_variant MELA-AU 4 1979596 1979596 single base substitution T C intron_variant MELA-AU 4 1980151 1980152 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 1980151 1980152 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 1980282 1980282 single base substitution G A downstream_gene_variant MELA-AU 4 1980282 1980282 single base substitution G A intron_variant MELA-AU 4 1980692 1980692 single base substitution T G 3_prime_UTR_variant MELA-AU 4 1980692 1980692 single base substitution T G downstream_gene_variant MELA-AU 4 1980692 1980692 single base substitution T G exon_variant MELA-AU 4 1980720 1980720 single base substitution C T 3_prime_UTR_variant MELA-AU 4 1980720 1980720 single base substitution C T downstream_gene_variant MELA-AU 4 1980720 1980720 single base substitution C T exon_variant MELA-AU 4 1980724 1980724 single base substitution G A 3_prime_UTR_variant MELA-AU 4 1980724 1980724 single base substitution G A downstream_gene_variant MELA-AU 4 1980724 1980724 single base substitution G A exon_variant MELA-AU 4 1982491 1982491 single base substitution G A 3_prime_UTR_variant MELA-AU 4 1982491 1982491 single base substitution G A downstream_gene_variant MELA-AU 4 1983208 1983209 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 4 1983208 1983209 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 1983213 1983213 single base substitution C A 3_prime_UTR_variant MELA-AU 4 1983213 1983213 single base substitution C A downstream_gene_variant MELA-AU 4 1984529 1984529 single base substitution C T downstream_gene_variant MELA-AU 4 1984578 1984578 single base substitution G A downstream_gene_variant MELA-AU 4 1984653 1984653 single base substitution C T downstream_gene_variant MELA-AU 4 1984943 1984943 single base substitution G A downstream_gene_variant MELA-AU 4 1985007 1985007 single base substitution G A downstream_gene_variant MELA-AU 4 1985889 1985889 single base substitution C T downstream_gene_variant MELA-AU 4 1985938 1985938 single base substitution T A downstream_gene_variant MELA-AU 4 1986387 1986387 single base substitution G A downstream_gene_variant MELA-AU 4 1986434 1986434 single base substitution G C downstream_gene_variant MELA-AU 4 1987725 1987725 single base substitution G A downstream_gene_variant MELA-AU 4 1987992 1987992 single base substitution G A downstream_gene_variant MELA-AU 4 1988139 1988139 single base substitution G A downstream_gene_variant MELA-AU 4 1988169 1988169 single base substitution C T downstream_gene_variant MELA-AU 4 1988304 1988304 single base substitution C A downstream_gene_variant MELA-AU 4 1988752 1988752 single base substitution G A downstream_gene_variant ORCA-IN 4 1902463 1902463 single base substitution C T exon_variant ORCA-IN 4 1902463 1902463 single base substitution C T missense_variant L28F 82C>T ORCA-IN 4 1906580 1906580 single base substitution G A downstream_gene_variant ORCA-IN 4 1906580 1906580 single base substitution G A intron_variant ORCA-IN 4 1912043 1912043 single base substitution C T intron_variant ORCA-IN 4 1920326 1920326 single base substitution C G downstream_gene_variant ORCA-IN 4 1920326 1920326 single base substitution C G exon_variant ORCA-IN 4 1920326 1920326 single base substitution C G synonymous_variant V462V 1386C>G ORCA-IN 4 1941642 1941642 single base substitution C T 3_prime_UTR_variant ORCA-IN 4 1941642 1941642 single base substitution C T intron_variant ORCA-IN 4 1942335 1942335 deletion of <=200bp T - 3_prime_UTR_variant ORCA-IN 4 1942335 1942335 deletion of <=200bp T - intron_variant ORCA-IN 4 1955098 1955098 single base substitution C T 3_prime_UTR_variant ORCA-IN 4 1955098 1955098 single base substitution C T downstream_gene_variant ORCA-IN 4 1955098 1955098 single base substitution C T exon_variant ORCA-IN 4 1955098 1955098 single base substitution C T intron_variant ORCA-IN 4 1955098 1955098 single base substitution C T missense_variant R729C 2185C>T ORCA-IN 4 1955098 1955098 single base substitution C T missense_variant R77C 229C>T ORCA-IN 4 1955098 1955098 single base substitution C T upstream_gene_variant ORCA-IN 4 1956995 1956995 single base substitution C G 3_prime_UTR_variant ORCA-IN 4 1956995 1956995 single base substitution C G downstream_gene_variant ORCA-IN 4 1956995 1956995 single base substitution C G exon_variant ORCA-IN 4 1956995 1956995 single base substitution C G missense_variant H139D 415C>G ORCA-IN 4 1956995 1956995 single base substitution C G missense_variant H164D 490C>G ORCA-IN 4 1956995 1956995 single base substitution C G missense_variant H816D 2446C>G ORCA-IN 4 1956995 1956995 single base substitution C G upstream_gene_variant ORCA-IN 4 1957861 1957861 single base substitution G T 3_prime_UTR_variant ORCA-IN 4 1957861 1957861 single base substitution G T downstream_gene_variant ORCA-IN 4 1957861 1957861 single base substitution G T exon_variant ORCA-IN 4 1957861 1957861 single base substitution G T missense_variant D266Y 796G>T ORCA-IN 4 1957861 1957861 single base substitution G T missense_variant D291Y 871G>T ORCA-IN 4 1957861 1957861 single base substitution G T missense_variant D943Y 2827G>T ORCA-IN 4 1962704 1962704 single base substitution C G downstream_gene_variant ORCA-IN 4 1962704 1962704 single base substitution C G intron_variant ORCA-IN 4 1967087 1967087 single base substitution C T intron_variant ORCA-IN 4 1973719 1973719 single base substitution C T intron_variant ORCA-IN 4 1973719 1973719 single base substitution C T upstream_gene_variant ORCA-IN 4 1984406 1984406 single base substitution C T downstream_gene_variant ORCA-IN 4 1986532 1986532 single base substitution C A downstream_gene_variant OV-AU 4 1873733 1873733 single base substitution G T intron_variant OV-AU 4 1875519 1875519 single base substitution C G intron_variant OV-AU 4 1879503 1879503 single base substitution C G intron_variant OV-AU 4 1880149 1880149 single base substitution T A intron_variant OV-AU 4 1883267 1883267 single base substitution G A intron_variant OV-AU 4 1883270 1883270 single base substitution G T intron_variant OV-AU 4 1884556 1884556 single base substitution T C intron_variant OV-AU 4 1884556 1884556 single base substitution T C upstream_gene_variant OV-AU 4 1892275 1892275 single base substitution A T intron_variant OV-AU 4 1892275 1892275 single base substitution A T upstream_gene_variant OV-AU 4 1892715 1892715 single base substitution G T intron_variant OV-AU 4 1892715 1892715 single base substitution G T upstream_gene_variant OV-AU 4 1894264 1894264 single base substitution C G intron_variant OV-AU 4 1894264 1894264 single base substitution C G upstream_gene_variant OV-AU 4 1896949 1896949 single base substitution G C intron_variant OV-AU 4 1896949 1896949 single base substitution G C upstream_gene_variant OV-AU 4 1905759 1905759 single base substitution C G downstream_gene_variant OV-AU 4 1905759 1905759 single base substitution C G intron_variant OV-AU 4 1910948 1910948 single base substitution A G intron_variant OV-AU 4 1917596 1917596 single base substitution T A downstream_gene_variant OV-AU 4 1917596 1917596 single base substitution T A intron_variant OV-AU 4 1917596 1917596 single base substitution T A upstream_gene_variant OV-AU 4 1920734 1920734 single base substitution C T downstream_gene_variant OV-AU 4 1920734 1920734 single base substitution C T exon_variant OV-AU 4 1920734 1920734 single base substitution C T intron_variant OV-AU 4 1930310 1930310 single base substitution C T intron_variant OV-AU 4 1930310 1930310 single base substitution C T upstream_gene_variant OV-AU 4 1932248 1932248 single base substitution C A intron_variant OV-AU 4 1932248 1932248 single base substitution C A upstream_gene_variant OV-AU 4 1938108 1938108 single base substitution A G intron_variant OV-AU 4 1938108 1938108 single base substitution A G upstream_gene_variant OV-AU 4 1941239 1941239 single base substitution A G exon_variant OV-AU 4 1941239 1941239 single base substitution A G intron_variant OV-AU 4 1941239 1941239 single base substitution A G upstream_gene_variant OV-AU 4 1946701 1946701 single base substitution G C 3_prime_UTR_variant OV-AU 4 1946701 1946701 single base substitution G C downstream_gene_variant OV-AU 4 1946701 1946701 single base substitution G C intron_variant OV-AU 4 1950275 1950275 single base substitution G C 3_prime_UTR_variant OV-AU 4 1950275 1950275 single base substitution G C intron_variant OV-AU 4 1950275 1950275 single base substitution G C upstream_gene_variant OV-AU 4 1954604 1954604 single base substitution A G 5_prime_UTR_variant OV-AU 4 1954604 1954604 single base substitution A G downstream_gene_variant OV-AU 4 1954604 1954604 single base substitution A G intron_variant OV-AU 4 1954604 1954604 single base substitution A G upstream_gene_variant OV-AU 4 1958829 1958829 single base substitution G A downstream_gene_variant OV-AU 4 1958829 1958829 single base substitution G A intron_variant OV-AU 4 1960339 1960339 single base substitution A G downstream_gene_variant OV-AU 4 1960339 1960339 single base substitution A G intron_variant OV-AU 4 1968752 1968752 single base substitution A C intron_variant OV-AU 4 1970994 1970994 single base substitution G A intron_variant OV-AU 4 1975189 1975189 single base substitution G A intron_variant OV-AU 4 1975189 1975189 single base substitution G A upstream_gene_variant OV-AU 4 1977176 1977176 single base substitution G C exon_variant OV-AU 4 1977176 1977176 single base substitution G C intron_variant OV-AU 4 1977176 1977176 single base substitution G C upstream_gene_variant OV-AU 4 1981330 1981330 single base substitution G A 3_prime_UTR_variant OV-AU 4 1981330 1981330 single base substitution G A downstream_gene_variant OV-AU 4 1981330 1981330 single base substitution G A exon_variant OV-AU 4 1982104 1982104 single base substitution G T 3_prime_UTR_variant OV-AU 4 1982104 1982104 single base substitution G T downstream_gene_variant OV-AU 4 1986570 1986570 single base substitution G C downstream_gene_variant OV-US 4 1980538 1980538 single base substitution A C 3_prime_UTR_variant OV-US 4 1980538 1980538 single base substitution A C downstream_gene_variant OV-US 4 1980538 1980538 single base substitution A C exon_variant OV-US 4 1980538 1980538 single base substitution A C synonymous_variant R1334R 4000A>C OV-US 4 1980538 1980538 single base substitution A C synonymous_variant R682R 2044A>C PACA-AU 4 1868600 1868600 single base substitution C T upstream_gene_variant PACA-AU 4 1872937 1872937 single base substitution A C upstream_gene_variant PACA-AU 4 1881147 1881147 single base substitution C T intron_variant PACA-AU 4 1887755 1887755 single base substitution C A intron_variant PACA-AU 4 1887755 1887755 single base substitution C A upstream_gene_variant PACA-AU 4 1888543 1888543 single base substitution G T intron_variant PACA-AU 4 1888543 1888543 single base substitution G T upstream_gene_variant PACA-AU 4 1892579 1892579 single base substitution C T intron_variant PACA-AU 4 1892579 1892579 single base substitution C T upstream_gene_variant PACA-AU 4 1899971 1899971 single base substitution G A intron_variant PACA-AU 4 1899971 1899971 single base substitution G A upstream_gene_variant PACA-AU 4 1900392 1900392 single base substitution A C intron_variant PACA-AU 4 1900392 1900392 single base substitution A C upstream_gene_variant PACA-AU 4 1904820 1904820 single base substitution C T downstream_gene_variant PACA-AU 4 1904820 1904820 single base substitution C T intron_variant PACA-AU 4 1905528 1905528 single base substitution C G downstream_gene_variant PACA-AU 4 1905528 1905528 single base substitution C G intron_variant PACA-AU 4 1921661 1921661 single base substitution C G downstream_gene_variant PACA-AU 4 1921661 1921661 single base substitution C G intron_variant PACA-AU 4 1922475 1922482 deletion of <=200bp GAAAGGCC - downstream_gene_variant PACA-AU 4 1922475 1922482 deletion of <=200bp GAAAGGCC - intron_variant PACA-AU 4 1922572 1922572 single base substitution G A downstream_gene_variant PACA-AU 4 1922572 1922572 single base substitution G A intron_variant PACA-AU 4 1923803 1923803 single base substitution G A downstream_gene_variant PACA-AU 4 1923803 1923803 single base substitution G A intron_variant PACA-AU 4 1924147 1924147 single base substitution G A downstream_gene_variant PACA-AU 4 1924147 1924147 single base substitution G A intron_variant PACA-AU 4 1927120 1927120 single base substitution T C intron_variant PACA-AU 4 1927505 1927505 single base substitution T G intron_variant PACA-AU 4 1927505 1927505 single base substitution T G upstream_gene_variant PACA-AU 4 1936436 1936436 single base substitution G A intron_variant PACA-AU 4 1936436 1936436 single base substitution G A upstream_gene_variant PACA-AU 4 1942583 1942583 single base substitution C G 3_prime_UTR_variant PACA-AU 4 1942583 1942583 single base substitution C G intron_variant PACA-AU 4 1943438 1943438 single base substitution G T 3_prime_UTR_variant PACA-AU 4 1943438 1943438 single base substitution G T intron_variant PACA-AU 4 1966578 1966578 single base substitution G T intron_variant PACA-AU 4 1975190 1975190 single base substitution C T intron_variant PACA-AU 4 1975190 1975190 single base substitution C T upstream_gene_variant PACA-AU 4 1975597 1975597 single base substitution G C intron_variant PACA-AU 4 1975597 1975597 single base substitution G C upstream_gene_variant PACA-AU 4 1975811 1975811 single base substitution C T intron_variant PACA-AU 4 1975811 1975811 single base substitution C T upstream_gene_variant PACA-AU 4 1980411 1980411 single base substitution T G 3_prime_UTR_variant PACA-AU 4 1980411 1980411 single base substitution T G downstream_gene_variant PACA-AU 4 1980411 1980411 single base substitution T G exon_variant PACA-AU 4 1980411 1980411 single base substitution T G synonymous_variant P1291P 3873T>G PACA-AU 4 1980411 1980411 single base substitution T G synonymous_variant P639P 1917T>G PACA-AU 4 1983390 1983390 single base substitution C T 3_prime_UTR_variant PACA-AU 4 1983390 1983390 single base substitution C T downstream_gene_variant PACA-AU 4 1986872 1986872 single base substitution G A downstream_gene_variant PACA-AU 4 1988217 1988217 single base substitution G T downstream_gene_variant PACA-CA 4 1868525 1868525 single base substitution G A upstream_gene_variant PACA-CA 4 1874322 1874322 single base substitution A T intron_variant PACA-CA 4 1876070 1876070 single base substitution A G intron_variant PACA-CA 4 1886397 1886397 single base substitution G A intron_variant PACA-CA 4 1886397 1886397 single base substitution G A upstream_gene_variant PACA-CA 4 1890014 1890014 single base substitution C A intron_variant PACA-CA 4 1890014 1890014 single base substitution C A upstream_gene_variant PACA-CA 4 1890808 1890808 single base substitution A T intron_variant PACA-CA 4 1890808 1890808 single base substitution A T upstream_gene_variant PACA-CA 4 1891336 1891336 single base substitution C T intron_variant PACA-CA 4 1891336 1891336 single base substitution C T upstream_gene_variant PACA-CA 4 1896664 1896664 single base substitution C T intron_variant PACA-CA 4 1896664 1896664 single base substitution C T upstream_gene_variant PACA-CA 4 1910990 1910990 deletion of <=200bp C - intron_variant PACA-CA 4 1911240 1911240 single base substitution G A intron_variant PACA-CA 4 1913112 1913112 single base substitution C T intron_variant PACA-CA 4 1918254 1918254 single base substitution G A downstream_gene_variant PACA-CA 4 1918254 1918254 single base substitution G A intron_variant PACA-CA 4 1918254 1918254 single base substitution G A upstream_gene_variant PACA-CA 4 1922470 1922470 single base substitution G T downstream_gene_variant PACA-CA 4 1922470 1922470 single base substitution G T intron_variant PACA-CA 4 1922606 1922606 single base substitution T A downstream_gene_variant PACA-CA 4 1922606 1922606 single base substitution T A intron_variant PACA-CA 4 1924101 1924101 single base substitution C T downstream_gene_variant PACA-CA 4 1924101 1924101 single base substitution C T intron_variant PACA-CA 4 1925472 1925472 single base substitution G A downstream_gene_variant PACA-CA 4 1925472 1925472 single base substitution G A intron_variant PACA-CA 4 1925856 1925856 single base substitution T C downstream_gene_variant PACA-CA 4 1925856 1925856 single base substitution T C intron_variant PACA-CA 4 1929297 1929297 single base substitution G A intron_variant PACA-CA 4 1929297 1929297 single base substitution G A upstream_gene_variant PACA-CA 4 1929813 1929813 single base substitution T C intron_variant PACA-CA 4 1929813 1929813 single base substitution T C upstream_gene_variant PACA-CA 4 1932400 1932400 single base substitution G T exon_variant PACA-CA 4 1932400 1932400 single base substitution G T synonymous_variant L486L 1458G>T PACA-CA 4 1932400 1932400 single base substitution G T upstream_gene_variant PACA-CA 4 1933287 1933287 single base substitution T C intron_variant PACA-CA 4 1933684 1933684 single base substitution G T intron_variant PACA-CA 4 1947531 1947531 single base substitution C T 3_prime_UTR_variant PACA-CA 4 1947531 1947531 single base substitution C T downstream_gene_variant PACA-CA 4 1947531 1947531 single base substitution C T intron_variant PACA-CA 4 1947892 1947892 single base substitution A C 3_prime_UTR_variant PACA-CA 4 1947892 1947892 single base substitution A C downstream_gene_variant PACA-CA 4 1947892 1947892 single base substitution A C intron_variant PACA-CA 4 1948119 1948119 single base substitution C T 3_prime_UTR_variant PACA-CA 4 1948119 1948119 single base substitution C T downstream_gene_variant PACA-CA 4 1948119 1948119 single base substitution C T intron_variant PACA-CA 4 1948546 1948546 single base substitution G A 3_prime_UTR_variant PACA-CA 4 1948546 1948546 single base substitution G A downstream_gene_variant PACA-CA 4 1948546 1948546 single base substitution G A intron_variant PACA-CA 4 1948981 1948981 single base substitution T G 3_prime_UTR_variant PACA-CA 4 1948981 1948981 single base substitution T G downstream_gene_variant PACA-CA 4 1948981 1948981 single base substitution T G intron_variant PACA-CA 4 1948981 1948981 single base substitution T G upstream_gene_variant PACA-CA 4 1956099 1956099 insertion of <=200bp - T downstream_gene_variant PACA-CA 4 1956099 1956099 insertion of <=200bp - T intron_variant PACA-CA 4 1956099 1956099 insertion of <=200bp - T upstream_gene_variant PACA-CA 4 1958540 1958540 single base substitution G A downstream_gene_variant PACA-CA 4 1958540 1958540 single base substitution G A intron_variant PACA-CA 4 1958551 1958551 single base substitution G A downstream_gene_variant PACA-CA 4 1958551 1958551 single base substitution G A intron_variant PACA-CA 4 1960331 1960331 single base substitution C T downstream_gene_variant PACA-CA 4 1960331 1960331 single base substitution C T intron_variant PACA-CA 4 1960996 1960996 single base substitution G A downstream_gene_variant PACA-CA 4 1960996 1960996 single base substitution G A intron_variant PACA-CA 4 1962449 1962449 single base substitution T C downstream_gene_variant PACA-CA 4 1962449 1962449 single base substitution T C intron_variant PACA-CA 4 1965574 1965574 insertion of <=200bp - A intron_variant PACA-CA 4 1966972 1966972 single base substitution A G intron_variant PACA-CA 4 1971684 1971684 single base substitution T C intron_variant PACA-CA 4 1971684 1971684 single base substitution T C upstream_gene_variant PACA-CA 4 1971816 1971816 single base substitution C T intron_variant PACA-CA 4 1971816 1971816 single base substitution C T upstream_gene_variant PACA-CA 4 1974966 1974966 single base substitution C T intron_variant PACA-CA 4 1974966 1974966 single base substitution C T upstream_gene_variant PACA-CA 4 1975783 1975783 single base substitution C T intron_variant PACA-CA 4 1975783 1975783 single base substitution C T upstream_gene_variant PACA-CA 4 1976696 1976696 single base substitution G A 3_prime_UTR_variant PACA-CA 4 1976696 1976696 single base substitution G A exon_variant PACA-CA 4 1976696 1976696 single base substitution G A missense_variant R1160H 3479G>A PACA-CA 4 1976696 1976696 single base substitution G A missense_variant R508H 1523G>A PACA-CA 4 1976696 1976696 single base substitution G A upstream_gene_variant PACA-CA 4 1981347 1981347 single base substitution C T 3_prime_UTR_variant PACA-CA 4 1981347 1981347 single base substitution C T downstream_gene_variant PACA-CA 4 1981347 1981347 single base substitution C T exon_variant PACA-CA 4 1985084 1985084 single base substitution G A downstream_gene_variant PACA-CA 4 1988785 1988785 single base substitution G A downstream_gene_variant PAEN-AU 4 1871305 1871305 single base substitution C G upstream_gene_variant PAEN-AU 4 1872524 1872524 single base substitution A C upstream_gene_variant PAEN-AU 4 1895338 1895338 single base substitution G T intron_variant PAEN-AU 4 1898071 1898071 single base substitution C T intron_variant PAEN-AU 4 1898071 1898071 single base substitution C T upstream_gene_variant PAEN-IT 4 1889392 1889392 single base substitution T C 5_prime_UTR_variant PAEN-IT 4 1889392 1889392 single base substitution T C intron_variant PAEN-IT 4 1896953 1896953 single base substitution C T intron_variant PAEN-IT 4 1896953 1896953 single base substitution C T upstream_gene_variant PAEN-IT 4 1912056 1912056 single base substitution G T intron_variant PAEN-IT 4 1916357 1916357 single base substitution G A downstream_gene_variant PAEN-IT 4 1916357 1916357 single base substitution G A intron_variant PAEN-IT 4 1916357 1916357 single base substitution G A upstream_gene_variant PAEN-IT 4 1988762 1988762 single base substitution G A downstream_gene_variant PBCA-DE 4 1870123 1870123 single base substitution G A upstream_gene_variant PBCA-DE 4 1884918 1884918 single base substitution T C intron_variant PBCA-DE 4 1884918 1884918 single base substitution T C upstream_gene_variant PBCA-DE 4 1897445 1897445 single base substitution C T intron_variant PBCA-DE 4 1897445 1897445 single base substitution C T upstream_gene_variant PBCA-DE 4 1910106 1910106 single base substitution G A intron_variant PBCA-DE 4 1914354 1914354 insertion of <=200bp - A downstream_gene_variant PBCA-DE 4 1914354 1914354 insertion of <=200bp - A intron_variant PBCA-DE 4 1917263 1917263 single base substitution T G downstream_gene_variant PBCA-DE 4 1917263 1917263 single base substitution T G intron_variant PBCA-DE 4 1917263 1917263 single base substitution T G upstream_gene_variant PBCA-DE 4 1920624 1920624 single base substitution C T downstream_gene_variant PBCA-DE 4 1920624 1920624 single base substitution C T exon_variant PBCA-DE 4 1920624 1920624 single base substitution C T intron_variant PBCA-DE 4 1922593 1922593 deletion of <=200bp A - downstream_gene_variant PBCA-DE 4 1922593 1922593 deletion of <=200bp A - intron_variant PBCA-DE 4 1932967 1932967 single base substitution G A intron_variant PBCA-DE 4 1942715 1942715 single base substitution G A 3_prime_UTR_variant PBCA-DE 4 1942715 1942715 single base substitution G A intron_variant PBCA-DE 4 1943484 1943484 single base substitution A G 3_prime_UTR_variant PBCA-DE 4 1943484 1943484 single base substitution A G downstream_gene_variant PBCA-DE 4 1943484 1943484 single base substitution A G intron_variant PBCA-DE 4 1959491 1959491 single base substitution G A downstream_gene_variant PBCA-DE 4 1959491 1959491 single base substitution G A intron_variant PBCA-DE 4 1960405 1960405 single base substitution G A downstream_gene_variant PBCA-DE 4 1960405 1960405 single base substitution G A intron_variant PBCA-DE 4 1965595 1965595 single base substitution C T intron_variant PBCA-DE 4 1976665 1976665 single base substitution A G 3_prime_UTR_variant PBCA-DE 4 1976665 1976665 single base substitution A G exon_variant PBCA-DE 4 1976665 1976665 single base substitution A G missense_variant T1150A 3448A>G PBCA-DE 4 1976665 1976665 single base substitution A G missense_variant T498A 1492A>G PBCA-DE 4 1976665 1976665 single base substitution A G upstream_gene_variant PRAD-CA 4 1871383 1871383 single base substitution C T upstream_gene_variant PRAD-CA 4 1874316 1874316 single base substitution T A intron_variant PRAD-CA 4 1893599 1893599 single base substitution C A intron_variant PRAD-CA 4 1893599 1893599 single base substitution C A upstream_gene_variant PRAD-CA 4 1938620 1938620 single base substitution C T intron_variant PRAD-CA 4 1938620 1938620 single base substitution C T upstream_gene_variant PRAD-CA 4 1983354 1983354 single base substitution G A 3_prime_UTR_variant PRAD-CA 4 1983354 1983354 single base substitution G A downstream_gene_variant PRAD-UK 4 1875865 1875865 single base substitution T C intron_variant PRAD-UK 4 1897342 1897342 single base substitution A T intron_variant PRAD-UK 4 1897342 1897342 single base substitution A T upstream_gene_variant PRAD-UK 4 1900008 1900008 single base substitution C T intron_variant PRAD-UK 4 1900008 1900008 single base substitution C T upstream_gene_variant PRAD-UK 4 1900559 1900559 single base substitution C T intron_variant PRAD-UK 4 1900559 1900559 single base substitution C T upstream_gene_variant PRAD-UK 4 1901672 1901672 single base substitution C T intron_variant PRAD-UK 4 1901672 1901672 single base substitution C T upstream_gene_variant PRAD-UK 4 1904302 1904302 single base substitution T C downstream_gene_variant PRAD-UK 4 1904302 1904302 single base substitution T C intron_variant PRAD-UK 4 1911657 1911657 single base substitution C T intron_variant PRAD-UK 4 1923775 1923775 single base substitution C A downstream_gene_variant PRAD-UK 4 1923775 1923775 single base substitution C A intron_variant PRAD-UK 4 1938093 1938093 single base substitution C A intron_variant PRAD-UK 4 1938093 1938093 single base substitution C A upstream_gene_variant PRAD-UK 4 1939043 1939043 single base substitution A C intron_variant PRAD-UK 4 1939043 1939043 single base substitution A C upstream_gene_variant PRAD-UK 4 1941370 1941370 single base substitution T G exon_variant PRAD-UK 4 1941370 1941370 single base substitution T G intron_variant PRAD-UK 4 1941370 1941370 single base substitution T G upstream_gene_variant PRAD-UK 4 1966358 1966358 insertion of <=200bp - CGCTGC intron_variant PRAD-UK 4 1966365 1966365 single base substitution G A intron_variant PRAD-UK 4 1966633 1966633 single base substitution T G intron_variant PRAD-UK 4 1982212 1982214 deletion of <=200bp CTG - 3_prime_UTR_variant PRAD-UK 4 1982212 1982214 deletion of <=200bp CTG - downstream_gene_variant PRAD-UK 4 1985120 1985120 single base substitution C A downstream_gene_variant PRAD-US 4 1976594 1976594 single base substitution G A 3_prime_UTR_variant PRAD-US 4 1976594 1976594 single base substitution G A exon_variant PRAD-US 4 1976594 1976594 single base substitution G A missense_variant R1126H 3377G>A PRAD-US 4 1976594 1976594 single base substitution G A missense_variant R474H 1421G>A PRAD-US 4 1976594 1976594 single base substitution G A upstream_gene_variant PRAD-US 4 1980396 1980396 single base substitution C T 3_prime_UTR_variant PRAD-US 4 1980396 1980396 single base substitution C T downstream_gene_variant PRAD-US 4 1980396 1980396 single base substitution C T exon_variant PRAD-US 4 1980396 1980396 single base substitution C T synonymous_variant D1286D 3858C>T PRAD-US 4 1980396 1980396 single base substitution C T synonymous_variant D634D 1902C>T READ-US 4 1902850 1902850 single base substitution A T downstream_gene_variant READ-US 4 1902850 1902850 single base substitution A T exon_variant READ-US 4 1902850 1902850 single base substitution A T missense_variant N157Y 469A>T READ-US 4 1902876 1902876 single base substitution G A downstream_gene_variant READ-US 4 1902876 1902876 single base substitution G A exon_variant READ-US 4 1902876 1902876 single base substitution G A synonymous_variant A165A 495G>A RECA-EU 4 1874322 1874322 single base substitution A T intron_variant RECA-EU 4 1876017 1876017 single base substitution C T intron_variant RECA-EU 4 1878895 1878895 single base substitution A G intron_variant RECA-EU 4 1884259 1884259 single base substitution C T intron_variant RECA-EU 4 1884259 1884259 single base substitution C T upstream_gene_variant RECA-EU 4 1892939 1892939 single base substitution A T intron_variant RECA-EU 4 1892939 1892939 single base substitution A T upstream_gene_variant RECA-EU 4 1894067 1894067 single base substitution T G intron_variant RECA-EU 4 1894067 1894067 single base substitution T G upstream_gene_variant RECA-EU 4 1898532 1898532 single base substitution A T intron_variant RECA-EU 4 1898532 1898532 single base substitution A T upstream_gene_variant RECA-EU 4 1903675 1903675 single base substitution T A downstream_gene_variant RECA-EU 4 1903675 1903675 single base substitution T A intron_variant RECA-EU 4 1904885 1904885 single base substitution G A downstream_gene_variant RECA-EU 4 1904885 1904885 single base substitution G A intron_variant RECA-EU 4 1906585 1906585 single base substitution C T downstream_gene_variant RECA-EU 4 1906585 1906585 single base substitution C T intron_variant RECA-EU 4 1926536 1926536 single base substitution C T intron_variant RECA-EU 4 1932217 1932217 single base substitution G C intron_variant RECA-EU 4 1932217 1932217 single base substitution G C upstream_gene_variant RECA-EU 4 1936405 1936405 single base substitution T C intron_variant RECA-EU 4 1936405 1936405 single base substitution T C upstream_gene_variant RECA-EU 4 1945303 1945303 single base substitution G C 3_prime_UTR_variant RECA-EU 4 1945303 1945303 single base substitution G C downstream_gene_variant RECA-EU 4 1945303 1945303 single base substitution G C intron_variant RECA-EU 4 1957836 1957836 single base substitution G A 3_prime_UTR_variant RECA-EU 4 1957836 1957836 single base substitution G A downstream_gene_variant RECA-EU 4 1957836 1957836 single base substitution G A exon_variant RECA-EU 4 1957836 1957836 single base substitution G A synonymous_variant A257A 771G>A RECA-EU 4 1957836 1957836 single base substitution G A synonymous_variant A282A 846G>A RECA-EU 4 1957836 1957836 single base substitution G A synonymous_variant A934A 2802G>A RECA-EU 4 1961266 1961266 single base substitution C A 3_prime_UTR_variant RECA-EU 4 1961266 1961266 single base substitution C A downstream_gene_variant RECA-EU 4 1961266 1961266 single base substitution C A exon_variant RECA-EU 4 1961266 1961266 single base substitution C A stop_gained C1018* 3054C>A RECA-EU 4 1961266 1961266 single base substitution C A stop_gained C366* 1098C>A RECA-EU 4 1963039 1963039 single base substitution T G downstream_gene_variant RECA-EU 4 1963039 1963039 single base substitution T G intron_variant SKCA-BR 4 1873113 1873113 single base substitution C G upstream_gene_variant SKCA-BR 4 1873929 1873929 single base substitution T G intron_variant SKCA-BR 4 1874291 1874291 insertion of <=200bp - TTG intron_variant SKCA-BR 4 1874318 1874320 deletion of <=200bp TGA - intron_variant SKCA-BR 4 1874360 1874360 insertion of <=200bp - AGAGAGAGAGAGAGAGC intron_variant SKCA-BR 4 1879953 1879953 insertion of <=200bp - GATAT intron_variant SKCA-BR 4 1881522 1881522 single base substitution G A intron_variant SKCA-BR 4 1881523 1881523 single base substitution G A intron_variant SKCA-BR 4 1886465 1886465 single base substitution T C intron_variant SKCA-BR 4 1886465 1886465 single base substitution T C upstream_gene_variant SKCA-BR 4 1888850 1888850 single base substitution C T intron_variant SKCA-BR 4 1888850 1888850 single base substitution C T upstream_gene_variant SKCA-BR 4 1892397 1892397 single base substitution C G intron_variant SKCA-BR 4 1892397 1892397 single base substitution C G upstream_gene_variant SKCA-BR 4 1893801 1893801 single base substitution T C intron_variant SKCA-BR 4 1893801 1893801 single base substitution T C upstream_gene_variant SKCA-BR 4 1898458 1898458 single base substitution C T intron_variant SKCA-BR 4 1898458 1898458 single base substitution C T upstream_gene_variant SKCA-BR 4 1900373 1900373 single base substitution C T intron_variant SKCA-BR 4 1900373 1900373 single base substitution C T upstream_gene_variant SKCA-BR 4 1900382 1900382 single base substitution G A intron_variant SKCA-BR 4 1900382 1900382 single base substitution G A upstream_gene_variant SKCA-BR 4 1902427 1902427 single base substitution G A exon_variant SKCA-BR 4 1902427 1902427 single base substitution G A missense_variant V16I 46G>A SKCA-BR 4 1903137 1903137 single base substitution T G downstream_gene_variant SKCA-BR 4 1903137 1903137 single base substitution T G intron_variant SKCA-BR 4 1908700 1908700 single base substitution C T intron_variant SKCA-BR 4 1910792 1910792 single base substitution C T intron_variant SKCA-BR 4 1910793 1910793 single base substitution C T intron_variant SKCA-BR 4 1910989 1910989 insertion of <=200bp - AC intron_variant SKCA-BR 4 1913739 1913739 single base substitution C T intron_variant SKCA-BR 4 1913805 1913805 single base substitution C T intron_variant SKCA-BR 4 1914078 1914078 single base substitution C A downstream_gene_variant SKCA-BR 4 1914078 1914078 single base substitution C A intron_variant SKCA-BR 4 1914583 1914583 single base substitution T C downstream_gene_variant SKCA-BR 4 1914583 1914583 single base substitution T C intron_variant SKCA-BR 4 1916429 1916429 single base substitution C T downstream_gene_variant SKCA-BR 4 1916429 1916429 single base substitution C T intron_variant SKCA-BR 4 1916429 1916429 single base substitution C T upstream_gene_variant SKCA-BR 4 1917400 1917400 single base substitution G A downstream_gene_variant SKCA-BR 4 1917400 1917400 single base substitution G A intron_variant SKCA-BR 4 1917400 1917400 single base substitution G A upstream_gene_variant SKCA-BR 4 1921898 1921898 single base substitution T G downstream_gene_variant SKCA-BR 4 1921898 1921898 single base substitution T G intron_variant SKCA-BR 4 1922048 1922048 single base substitution G A downstream_gene_variant SKCA-BR 4 1922048 1922048 single base substitution G A intron_variant SKCA-BR 4 1922592 1922593 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 4 1922592 1922593 deletion of <=200bp TA - intron_variant SKCA-BR 4 1924963 1924963 single base substitution C T downstream_gene_variant SKCA-BR 4 1924963 1924963 single base substitution C T intron_variant SKCA-BR 4 1928507 1928508 deletion of <=200bp AT - intron_variant SKCA-BR 4 1928507 1928508 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 4 1930689 1930689 single base substitution A G intron_variant SKCA-BR 4 1930689 1930689 single base substitution A G upstream_gene_variant SKCA-BR 4 1931306 1931306 single base substitution A G intron_variant SKCA-BR 4 1931306 1931306 single base substitution A G upstream_gene_variant SKCA-BR 4 1934202 1934202 single base substitution A G intron_variant SKCA-BR 4 1934496 1934496 single base substitution C T intron_variant SKCA-BR 4 1936607 1936607 single base substitution T A intron_variant SKCA-BR 4 1936607 1936607 single base substitution T A upstream_gene_variant SKCA-BR 4 1940063 1940063 single base substitution G A intron_variant SKCA-BR 4 1940063 1940063 single base substitution G A upstream_gene_variant SKCA-BR 4 1944891 1944891 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 1944891 1944891 single base substitution C T downstream_gene_variant SKCA-BR 4 1944891 1944891 single base substitution C T intron_variant SKCA-BR 4 1945433 1945433 single base substitution A T 3_prime_UTR_variant SKCA-BR 4 1945433 1945433 single base substitution A T downstream_gene_variant SKCA-BR 4 1945433 1945433 single base substitution A T intron_variant SKCA-BR 4 1948187 1948187 single base substitution A G 3_prime_UTR_variant SKCA-BR 4 1948187 1948187 single base substitution A G downstream_gene_variant SKCA-BR 4 1948187 1948187 single base substitution A G intron_variant SKCA-BR 4 1950118 1950118 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 1950118 1950118 single base substitution C T intron_variant SKCA-BR 4 1950118 1950118 single base substitution C T upstream_gene_variant SKCA-BR 4 1952708 1952708 single base substitution T G downstream_gene_variant SKCA-BR 4 1952708 1952708 single base substitution T G intron_variant SKCA-BR 4 1952708 1952708 single base substitution T G upstream_gene_variant SKCA-BR 4 1952722 1952722 single base substitution A G downstream_gene_variant SKCA-BR 4 1952722 1952722 single base substitution A G intron_variant SKCA-BR 4 1952722 1952722 single base substitution A G upstream_gene_variant SKCA-BR 4 1954723 1954723 single base substitution C T 5_prime_UTR_variant SKCA-BR 4 1954723 1954723 single base substitution C T downstream_gene_variant SKCA-BR 4 1954723 1954723 single base substitution C T intron_variant SKCA-BR 4 1954723 1954723 single base substitution C T upstream_gene_variant SKCA-BR 4 1955393 1955393 single base substitution T G downstream_gene_variant SKCA-BR 4 1955393 1955393 single base substitution T G intron_variant SKCA-BR 4 1955393 1955393 single base substitution T G upstream_gene_variant SKCA-BR 4 1955769 1955769 single base substitution G T downstream_gene_variant SKCA-BR 4 1955769 1955769 single base substitution G T intron_variant SKCA-BR 4 1955769 1955769 single base substitution G T upstream_gene_variant SKCA-BR 4 1958587 1958587 single base substitution A G downstream_gene_variant SKCA-BR 4 1958587 1958587 single base substitution A G intron_variant SKCA-BR 4 1959342 1959342 single base substitution G A downstream_gene_variant SKCA-BR 4 1959342 1959342 single base substitution G A intron_variant SKCA-BR 4 1961031 1961031 single base substitution C T downstream_gene_variant SKCA-BR 4 1961031 1961031 single base substitution C T intron_variant SKCA-BR 4 1961146 1961146 single base substitution T G downstream_gene_variant SKCA-BR 4 1961146 1961146 single base substitution T G intron_variant SKCA-BR 4 1963792 1963792 single base substitution C T downstream_gene_variant SKCA-BR 4 1963792 1963792 single base substitution C T intron_variant SKCA-BR 4 1972746 1972746 single base substitution C T intron_variant SKCA-BR 4 1972746 1972746 single base substitution C T upstream_gene_variant SKCA-BR 4 1975484 1975484 single base substitution C T intron_variant SKCA-BR 4 1975484 1975484 single base substitution C T upstream_gene_variant SKCA-BR 4 1977242 1977242 single base substitution G A exon_variant SKCA-BR 4 1977242 1977242 single base substitution G A intron_variant SKCA-BR 4 1977242 1977242 single base substitution G A upstream_gene_variant SKCA-BR 4 1978402 1978402 single base substitution C G 3_prime_UTR_variant SKCA-BR 4 1978402 1978402 single base substitution C G downstream_gene_variant SKCA-BR 4 1978402 1978402 single base substitution C G exon_variant SKCA-BR 4 1978402 1978402 single base substitution C G synonymous_variant P1274P 3822C>G SKCA-BR 4 1978402 1978402 single base substitution C G synonymous_variant P622P 1866C>G SKCA-BR 4 1982397 1982397 single base substitution T G 3_prime_UTR_variant SKCA-BR 4 1982397 1982397 single base substitution T G downstream_gene_variant SKCA-BR 4 1986204 1986204 single base substitution G A downstream_gene_variant SKCA-BR 4 1986218 1986218 single base substitution T C downstream_gene_variant SKCA-BR 4 1987041 1987041 single base substitution A C downstream_gene_variant SKCM-US 4 1902413 1902413 single base substitution C T exon_variant SKCM-US 4 1902413 1902413 single base substitution C T missense_variant S11F 32C>T SKCM-US 4 1902443 1902443 single base substitution T G exon_variant SKCM-US 4 1902443 1902443 single base substitution T G missense_variant M21R 62T>G SKCM-US 4 1902596 1902596 single base substitution C T downstream_gene_variant SKCM-US 4 1902596 1902596 single base substitution C T exon_variant SKCM-US 4 1902596 1902596 single base substitution C T missense_variant P72L 215C>T SKCM-US 4 1902911 1902911 single base substitution C T downstream_gene_variant SKCM-US 4 1902911 1902911 single base substitution C T exon_variant SKCM-US 4 1902911 1902911 single base substitution C T missense_variant S177F 530C>T SKCM-US 4 1918700 1918700 single base substitution G A 3_prime_UTR_variant SKCM-US 4 1918700 1918700 single base substitution G A downstream_gene_variant SKCM-US 4 1918700 1918700 single base substitution G A exon_variant SKCM-US 4 1918700 1918700 single base substitution G A missense_variant G288E 863G>A SKCM-US 4 1918700 1918700 single base substitution G A upstream_gene_variant SKCM-US 4 1919900 1919900 single base substitution C T 3_prime_UTR_variant SKCM-US 4 1919900 1919900 single base substitution C T exon_variant SKCM-US 4 1919900 1919900 single base substitution C T synonymous_variant A320A 960C>T SKCM-US 4 1919900 1919900 single base substitution C T upstream_gene_variant SKCM-US 4 1920067 1920067 single base substitution C T downstream_gene_variant SKCM-US 4 1920067 1920067 single base substitution C T exon_variant SKCM-US 4 1920067 1920067 single base substitution C T missense_variant S376F 1127C>T SKCM-US 4 1920067 1920067 single base substitution C T upstream_gene_variant SKCM-US 4 1920068 1920068 single base substitution C T downstream_gene_variant SKCM-US 4 1920068 1920068 single base substitution C T exon_variant SKCM-US 4 1920068 1920068 single base substitution C T synonymous_variant S376S 1128C>T SKCM-US 4 1920068 1920068 single base substitution C T upstream_gene_variant SKCM-US 4 1920195 1920195 single base substitution G A downstream_gene_variant SKCM-US 4 1920195 1920195 single base substitution G A exon_variant SKCM-US 4 1920195 1920195 single base substitution G A missense_variant G419R 1255G>A SKCM-US 4 1952827 1952827 single base substitution C T 3_prime_UTR_variant SKCM-US 4 1952827 1952827 single base substitution C T downstream_gene_variant SKCM-US 4 1952827 1952827 single base substitution C T exon_variant SKCM-US 4 1952827 1952827 single base substitution C T missense_variant S49L 146C>T SKCM-US 4 1952827 1952827 single base substitution C T missense_variant S637L 1910C>T SKCM-US 4 1952827 1952827 single base substitution C T upstream_gene_variant SKCM-US 4 1957788 1957788 single base substitution C T 3_prime_UTR_variant SKCM-US 4 1957788 1957788 single base substitution C T downstream_gene_variant SKCM-US 4 1957788 1957788 single base substitution C T exon_variant SKCM-US 4 1957788 1957788 single base substitution C T synonymous_variant F241F 723C>T SKCM-US 4 1957788 1957788 single base substitution C T synonymous_variant F266F 798C>T SKCM-US 4 1957788 1957788 single base substitution C T synonymous_variant F918F 2754C>T SKCM-US 4 1957846 1957846 single base substitution C T 3_prime_UTR_variant SKCM-US 4 1957846 1957846 single base substitution C T downstream_gene_variant SKCM-US 4 1957846 1957846 single base substitution C T exon_variant SKCM-US 4 1957846 1957846 single base substitution C T missense_variant P261S 781C>T SKCM-US 4 1957846 1957846 single base substitution C T missense_variant P286S 856C>T SKCM-US 4 1957846 1957846 single base substitution C T missense_variant P938S 2812C>T SKCM-US 4 1957858 1957858 single base substitution G A 3_prime_UTR_variant SKCM-US 4 1957858 1957858 single base substitution G A downstream_gene_variant SKCM-US 4 1957858 1957858 single base substitution G A exon_variant SKCM-US 4 1957858 1957858 single base substitution G A missense_variant G265R 793G>A SKCM-US 4 1957858 1957858 single base substitution G A missense_variant G290R 868G>A SKCM-US 4 1957858 1957858 single base substitution G A missense_variant G942R 2824G>A SKCM-US 4 1961227 1961227 single base substitution C T 3_prime_UTR_variant SKCM-US 4 1961227 1961227 single base substitution C T downstream_gene_variant SKCM-US 4 1961227 1961227 single base substitution C T exon_variant SKCM-US 4 1961227 1961227 single base substitution C T synonymous_variant I1005I 3015C>T SKCM-US 4 1961227 1961227 single base substitution C T synonymous_variant I353I 1059C>T STAD-US 4 1902809 1902809 single base substitution T G downstream_gene_variant STAD-US 4 1902809 1902809 single base substitution T G exon_variant STAD-US 4 1902809 1902809 single base substitution T G missense_variant I143S 428T>G STAD-US 4 1902902 1902902 single base substitution A C downstream_gene_variant STAD-US 4 1902902 1902902 single base substitution A C exon_variant STAD-US 4 1902902 1902902 single base substitution A C missense_variant K174T 521A>C STAD-US 4 1906092 1906092 single base substitution T C downstream_gene_variant STAD-US 4 1906092 1906092 single base substitution T C exon_variant STAD-US 4 1906092 1906092 single base substitution T C synonymous_variant Y249Y 747T>C STAD-US 4 1920186 1920186 single base substitution C T downstream_gene_variant STAD-US 4 1920186 1920186 single base substitution C T exon_variant STAD-US 4 1920186 1920186 single base substitution C T missense_variant P416S 1246C>T STAD-US 4 1932443 1932443 single base substitution C T exon_variant STAD-US 4 1932443 1932443 single base substitution C T missense_variant R501C 1501C>T STAD-US 4 1932443 1932443 single base substitution C T upstream_gene_variant STAD-US 4 1941423 1941423 single base substitution G A 3_prime_UTR_variant STAD-US 4 1941423 1941423 single base substitution G A exon_variant STAD-US 4 1941423 1941423 single base substitution G A intron_variant STAD-US 4 1941423 1941423 single base substitution G A missense_variant R12Q 35G>A STAD-US 4 1941423 1941423 single base substitution G A missense_variant R600Q 1799G>A STAD-US 4 1941423 1941423 single base substitution G A upstream_gene_variant STAD-US 4 1941496 1941496 single base substitution T C 3_prime_UTR_variant STAD-US 4 1941496 1941496 single base substitution T C exon_variant STAD-US 4 1941496 1941496 single base substitution T C intron_variant STAD-US 4 1941496 1941496 single base substitution T C synonymous_variant T36T 108T>C STAD-US 4 1941496 1941496 single base substitution T C synonymous_variant T624T 1872T>C STAD-US 4 1953854 1953854 single base substitution G A 3_prime_UTR_variant STAD-US 4 1953854 1953854 single base substitution G A 5_prime_UTR_variant STAD-US 4 1953854 1953854 single base substitution G A downstream_gene_variant STAD-US 4 1953854 1953854 single base substitution G A exon_variant STAD-US 4 1953854 1953854 single base substitution G A intron_variant STAD-US 4 1953854 1953854 single base substitution G A missense_variant S678N 2033G>A STAD-US 4 1953854 1953854 single base substitution G A missense_variant S90N 269G>A STAD-US 4 1953854 1953854 single base substitution G A upstream_gene_variant STAD-US 4 1953859 1953859 single base substitution C T 3_prime_UTR_variant STAD-US 4 1953859 1953859 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 4 1953859 1953859 single base substitution C T downstream_gene_variant STAD-US 4 1953859 1953859 single base substitution C T exon_variant STAD-US 4 1953859 1953859 single base substitution C T intron_variant STAD-US 4 1953859 1953859 single base substitution C T synonymous_variant L680L 2038C>T STAD-US 4 1953859 1953859 single base substitution C T synonymous_variant L92L 274C>T STAD-US 4 1953859 1953859 single base substitution C T upstream_gene_variant STAD-US 4 1955098 1955098 single base substitution C T 3_prime_UTR_variant STAD-US 4 1955098 1955098 single base substitution C T downstream_gene_variant STAD-US 4 1955098 1955098 single base substitution C T exon_variant STAD-US 4 1955098 1955098 single base substitution C T intron_variant STAD-US 4 1955098 1955098 single base substitution C T missense_variant R729C 2185C>T STAD-US 4 1955098 1955098 single base substitution C T missense_variant R77C 229C>T STAD-US 4 1955098 1955098 single base substitution C T upstream_gene_variant STAD-US 4 1957027 1957027 single base substitution C T 3_prime_UTR_variant STAD-US 4 1957027 1957027 single base substitution C T downstream_gene_variant STAD-US 4 1957027 1957027 single base substitution C T exon_variant STAD-US 4 1957027 1957027 single base substitution C T synonymous_variant H149H 447C>T STAD-US 4 1957027 1957027 single base substitution C T synonymous_variant H174H 522C>T STAD-US 4 1957027 1957027 single base substitution C T synonymous_variant H826H 2478C>T STAD-US 4 1957027 1957027 single base substitution C T upstream_gene_variant STAD-US 4 1957837 1957837 single base substitution C T 3_prime_UTR_variant STAD-US 4 1957837 1957837 single base substitution C T downstream_gene_variant STAD-US 4 1957837 1957837 single base substitution C T exon_variant STAD-US 4 1957837 1957837 single base substitution C T stop_gained R258* 772C>T STAD-US 4 1957837 1957837 single base substitution C T stop_gained R283* 847C>T STAD-US 4 1957837 1957837 single base substitution C T stop_gained R935* 2803C>T STAD-US 4 1961359 1961359 single base substitution C T 3_prime_UTR_variant STAD-US 4 1961359 1961359 single base substitution C T downstream_gene_variant STAD-US 4 1961359 1961359 single base substitution C T exon_variant STAD-US 4 1961359 1961359 single base substitution C T synonymous_variant G1049G 3147C>T STAD-US 4 1961359 1961359 single base substitution C T synonymous_variant G397G 1191C>T STAD-US 4 1962797 1962797 single base substitution C T 3_prime_UTR_variant STAD-US 4 1962797 1962797 single base substitution C T downstream_gene_variant STAD-US 4 1962797 1962797 single base substitution C T exon_variant STAD-US 4 1962797 1962797 single base substitution C T synonymous_variant I1097I 3291C>T STAD-US 4 1962797 1962797 single base substitution C T synonymous_variant I445I 1335C>T STAD-US 4 1976611 1976611 single base substitution C A 3_prime_UTR_variant STAD-US 4 1976611 1976611 single base substitution C A exon_variant STAD-US 4 1976611 1976611 single base substitution C A missense_variant P1132T 3394C>A STAD-US 4 1976611 1976611 single base substitution C A missense_variant P480T 1438C>A STAD-US 4 1976611 1976611 single base substitution C A upstream_gene_variant STAD-US 4 1977117 1977117 single base substitution A G 3_prime_UTR_variant STAD-US 4 1977117 1977117 single base substitution A G exon_variant STAD-US 4 1977117 1977117 single base substitution A G missense_variant D1204G 3611A>G STAD-US 4 1977117 1977117 single base substitution A G missense_variant D552G 1655A>G STAD-US 4 1977117 1977117 single base substitution A G upstream_gene_variant STAD-US 4 1978235 1978235 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 4 1978235 1978235 deletion of <=200bp A - downstream_gene_variant STAD-US 4 1978235 1978235 deletion of <=200bp A - exon_variant STAD-US 4 1978235 1978235 deletion of <=200bp A - frameshift_variant K1219 STAD-US 4 1978235 1978235 deletion of <=200bp A - frameshift_variant K567 STAD-US 4 1978261 1978261 single base substitution G A 3_prime_UTR_variant STAD-US 4 1978261 1978261 single base substitution G A downstream_gene_variant STAD-US 4 1978261 1978261 single base substitution G A exon_variant STAD-US 4 1978261 1978261 single base substitution G A synonymous_variant R1227R 3681G>A STAD-US 4 1978261 1978261 single base substitution G A synonymous_variant R575R 1725G>A STAD-US 4 1980430 1980430 single base substitution C A 3_prime_UTR_variant STAD-US 4 1980430 1980430 single base substitution C A downstream_gene_variant STAD-US 4 1980430 1980430 single base substitution C A exon_variant STAD-US 4 1980430 1980430 single base substitution C A missense_variant L1298I 3892C>A STAD-US 4 1980430 1980430 single base substitution C A missense_variant L646I 1936C>A STAD-US 4 1980497 1980497 single base substitution G A 3_prime_UTR_variant STAD-US 4 1980497 1980497 single base substitution G A downstream_gene_variant STAD-US 4 1980497 1980497 single base substitution G A exon_variant STAD-US 4 1980497 1980497 single base substitution G A missense_variant R1320Q 3959G>A STAD-US 4 1980497 1980497 single base substitution G A missense_variant R668Q 2003G>A STAD-US 4 1980505 1980505 single base substitution T C 3_prime_UTR_variant STAD-US 4 1980505 1980505 single base substitution T C downstream_gene_variant STAD-US 4 1980505 1980505 single base substitution T C exon_variant STAD-US 4 1980505 1980505 single base substitution T C missense_variant C1323R 3967T>C STAD-US 4 1980505 1980505 single base substitution T C missense_variant C671R 2011T>C STAD-US 4 1980533 1980533 single base substitution C T 3_prime_UTR_variant STAD-US 4 1980533 1980533 single base substitution C T downstream_gene_variant STAD-US 4 1980533 1980533 single base substitution C T exon_variant STAD-US 4 1980533 1980533 single base substitution C T missense_variant S1332L 3995C>T STAD-US 4 1980533 1980533 single base substitution C T missense_variant S680L 2039C>T STAD-US 4 1985339 1985339 single base substitution G T downstream_gene_variant STAD-US 4 1985736 1985736 single base substitution G T downstream_gene_variant THCA-SA 4 1980561 1980561 single base substitution C T 3_prime_UTR_variant THCA-SA 4 1980561 1980561 single base substitution C T downstream_gene_variant THCA-SA 4 1980561 1980561 single base substitution C T exon_variant THCA-SA 4 1980561 1980561 single base substitution C T synonymous_variant P1341P 4023C>T THCA-SA 4 1980561 1980561 single base substitution C T synonymous_variant P689P 2067C>T THCA-US 4 1985181 1985181 single base substitution C T downstream_gene_variant UCEC-US 4 1902461 1902461 single base substitution T A exon_variant UCEC-US 4 1902461 1902461 single base substitution T A missense_variant I27N 80T>A UCEC-US 4 1902506 1902506 single base substitution G A downstream_gene_variant UCEC-US 4 1902506 1902506 single base substitution G A exon_variant UCEC-US 4 1902506 1902506 single base substitution G A missense_variant R42H 125G>A UCEC-US 4 1902586 1902586 single base substitution G A downstream_gene_variant UCEC-US 4 1902586 1902586 single base substitution G A exon_variant UCEC-US 4 1902586 1902586 single base substitution G A missense_variant D69N 205G>A UCEC-US 4 1902610 1902610 single base substitution G A downstream_gene_variant UCEC-US 4 1902610 1902610 single base substitution G A exon_variant UCEC-US 4 1902610 1902610 single base substitution G A missense_variant D77N 229G>A UCEC-US 4 1918615 1918615 single base substitution C T 3_prime_UTR_variant UCEC-US 4 1918615 1918615 single base substitution C T downstream_gene_variant UCEC-US 4 1918615 1918615 single base substitution C T exon_variant UCEC-US 4 1918615 1918615 single base substitution C T missense_variant R260C 778C>T UCEC-US 4 1918615 1918615 single base substitution C T upstream_gene_variant UCEC-US 4 1920189 1920189 single base substitution G A downstream_gene_variant UCEC-US 4 1920189 1920189 single base substitution G A exon_variant UCEC-US 4 1920189 1920189 single base substitution G A missense_variant D417N 1249G>A UCEC-US 4 1932444 1932444 single base substitution G A exon_variant UCEC-US 4 1932444 1932444 single base substitution G A missense_variant R501H 1502G>A UCEC-US 4 1932444 1932444 single base substitution G A upstream_gene_variant UCEC-US 4 1936892 1936892 single base substitution G T exon_variant UCEC-US 4 1936892 1936892 single base substitution G T missense_variant R526I 1577G>T UCEC-US 4 1936892 1936892 single base substitution G T upstream_gene_variant UCEC-US 4 1936942 1936942 single base substitution G A exon_variant UCEC-US 4 1936942 1936942 single base substitution G A missense_variant D543N 1627G>A UCEC-US 4 1936942 1936942 single base substitution G A upstream_gene_variant UCEC-US 4 1941428 1941428 single base substitution C T 3_prime_UTR_variant UCEC-US 4 1941428 1941428 single base substitution C T exon_variant UCEC-US 4 1941428 1941428 single base substitution C T intron_variant UCEC-US 4 1941428 1941428 single base substitution C T missense_variant R14W 40C>T UCEC-US 4 1941428 1941428 single base substitution C T missense_variant R602W 1804C>T UCEC-US 4 1941428 1941428 single base substitution C T upstream_gene_variant UCEC-US 4 1952839 1952839 single base substitution A G 3_prime_UTR_variant UCEC-US 4 1952839 1952839 single base substitution A G downstream_gene_variant UCEC-US 4 1952839 1952839 single base substitution A G exon_variant UCEC-US 4 1952839 1952839 single base substitution A G missense_variant Y53C 158A>G UCEC-US 4 1952839 1952839 single base substitution A G missense_variant Y641C 1922A>G UCEC-US 4 1952839 1952839 single base substitution A G upstream_gene_variant UCEC-US 4 1955177 1955177 single base substitution G A 3_prime_UTR_variant UCEC-US 4 1955177 1955177 single base substitution G A downstream_gene_variant UCEC-US 4 1955177 1955177 single base substitution G A exon_variant UCEC-US 4 1955177 1955177 single base substitution G A intron_variant UCEC-US 4 1955177 1955177 single base substitution G A missense_variant R103Q 308G>A UCEC-US 4 1955177 1955177 single base substitution G A missense_variant R755Q 2264G>A UCEC-US 4 1955177 1955177 single base substitution G A upstream_gene_variant UCEC-US 4 1955184 1955184 single base substitution C T 3_prime_UTR_variant UCEC-US 4 1955184 1955184 single base substitution C T downstream_gene_variant UCEC-US 4 1955184 1955184 single base substitution C T exon_variant UCEC-US 4 1955184 1955184 single base substitution C T intron_variant UCEC-US 4 1955184 1955184 single base substitution C T synonymous_variant F105F 315C>T UCEC-US 4 1955184 1955184 single base substitution C T synonymous_variant F757F 2271C>T UCEC-US 4 1955184 1955184 single base substitution C T upstream_gene_variant UCEC-US 4 1957034 1957034 single base substitution G A 3_prime_UTR_variant UCEC-US 4 1957034 1957034 single base substitution G A downstream_gene_variant UCEC-US 4 1957034 1957034 single base substitution G A exon_variant UCEC-US 4 1957034 1957034 single base substitution G A missense_variant V152I 454G>A UCEC-US 4 1957034 1957034 single base substitution G A missense_variant V177I 529G>A UCEC-US 4 1957034 1957034 single base substitution G A missense_variant V829I 2485G>A UCEC-US 4 1957034 1957034 single base substitution G A upstream_gene_variant UCEC-US 4 1957436 1957436 single base substitution C A 3_prime_UTR_variant UCEC-US 4 1957436 1957436 single base substitution C A downstream_gene_variant UCEC-US 4 1957436 1957436 single base substitution C A exon_variant UCEC-US 4 1957436 1957436 single base substitution C A stop_gained C168* 504C>A UCEC-US 4 1957436 1957436 single base substitution C A stop_gained C193* 579C>A UCEC-US 4 1957436 1957436 single base substitution C A stop_gained C845* 2535C>A UCEC-US 4 1957481 1957481 single base substitution C T 3_prime_UTR_variant UCEC-US 4 1957481 1957481 single base substitution C T downstream_gene_variant UCEC-US 4 1957481 1957481 single base substitution C T exon_variant UCEC-US 4 1957481 1957481 single base substitution C T synonymous_variant I183I 549C>T UCEC-US 4 1957481 1957481 single base substitution C T synonymous_variant I208I 624C>T UCEC-US 4 1957481 1957481 single base substitution C T synonymous_variant I860I 2580C>T UCEC-US 4 1957783 1957783 single base substitution G T 3_prime_UTR_variant UCEC-US 4 1957783 1957783 single base substitution G T downstream_gene_variant UCEC-US 4 1957783 1957783 single base substitution G T exon_variant UCEC-US 4 1957783 1957783 single base substitution G T stop_gained E240* 718G>T UCEC-US 4 1957783 1957783 single base substitution G T stop_gained E265* 793G>T UCEC-US 4 1957783 1957783 single base substitution G T stop_gained E917* 2749G>T UCEC-US 4 1957836 1957836 single base substitution G A 3_prime_UTR_variant UCEC-US 4 1957836 1957836 single base substitution G A downstream_gene_variant UCEC-US 4 1957836 1957836 single base substitution G A exon_variant UCEC-US 4 1957836 1957836 single base substitution G A synonymous_variant A257A 771G>A UCEC-US 4 1957836 1957836 single base substitution G A synonymous_variant A282A 846G>A UCEC-US 4 1957836 1957836 single base substitution G A synonymous_variant A934A 2802G>A UCEC-US 4 1961404 1961404 single base substitution G T 3_prime_UTR_variant UCEC-US 4 1961404 1961404 single base substitution G T downstream_gene_variant UCEC-US 4 1961404 1961404 single base substitution G T exon_variant UCEC-US 4 1961404 1961404 single base substitution G T missense_variant E1064D 3192G>T UCEC-US 4 1961404 1961404 single base substitution G T missense_variant E412D 1236G>T UCEC-US 4 1962830 1962830 single base substitution C T 3_prime_UTR_variant UCEC-US 4 1962830 1962830 single base substitution C T downstream_gene_variant UCEC-US 4 1962830 1962830 single base substitution C T exon_variant UCEC-US 4 1962830 1962830 single base substitution C T synonymous_variant H1108H 3324C>T UCEC-US 4 1962830 1962830 single base substitution C T synonymous_variant H456H 1368C>T UCEC-US 4 1976379 1976379 single base substitution G A intron_variant UCEC-US 4 1976379 1976379 single base substitution G A upstream_gene_variant UCEC-US 4 1978263 1978263 single base substitution G A 3_prime_UTR_variant UCEC-US 4 1978263 1978263 single base substitution G A downstream_gene_variant UCEC-US 4 1978263 1978263 single base substitution G A exon_variant UCEC-US 4 1978263 1978263 single base substitution G A missense_variant R1228H 3683G>A UCEC-US 4 1978263 1978263 single base substitution G A missense_variant R576H 1727G>A UCEC-US 4 1978324 1978324 single base substitution C T 3_prime_UTR_variant UCEC-US 4 1978324 1978324 single base substitution C T downstream_gene_variant UCEC-US 4 1978324 1978324 single base substitution C T exon_variant UCEC-US 4 1978324 1978324 single base substitution C T synonymous_variant G1248G 3744C>T UCEC-US 4 1978324 1978324 single base substitution C T synonymous_variant G596G 1788C>T UCEC-US 4 1980595 1980595 single base substitution C T 3_prime_UTR_variant UCEC-US 4 1980595 1980595 single base substitution C T downstream_gene_variant UCEC-US 4 1980595 1980595 single base substitution C T exon_variant UCEC-US 4 1980595 1980595 single base substitution C T missense_variant R1353W 4057C>T UCEC-US 4 1980595 1980595 single base substitution C T missense_variant R701W 2101C>T UCEC-US 4 1980610 1980610 single base substitution T C 3_prime_UTR_variant UCEC-US 4 1980610 1980610 single base substitution T C downstream_gene_variant UCEC-US 4 1980610 1980610 single base substitution T C exon_variant UCEC-US 4 1980610 1980610 single base substitution T C missense_variant W1358R 4072T>C UCEC-US 4 1980610 1980610 single base substitution T C missense_variant W706R 2116T>C UCEC-US 4 1985204 1985204 single base substitution C T downstream_gene_variant UCEC-US 4 1985225 1985225 single base substitution G A downstream_gene_variant UCEC-US 4 1985323 1985323 single base substitution C T downstream_gene_variant UCEC-US 4 1985399 1985399 single base substitution C A downstream_gene_variant UCEC-US 4 1985408 1985408 single base substitution G A downstream_gene_variant UCEC-US 4 1985582 1985582 single base substitution G A downstream_gene_variant UCEC-US 4 1988177 1988177 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 1811 COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + LC_C15 COSM1186510 c.295C>T p.R99C Substitution - Missense 4:1900949-1900949 + TCGA-BR-7707-01 COSM4124011 c.3394C>A p.P1132T Substitution - Missense 4:1974884-1974884 + OSCC-GB_00510111 COSM3714781 c.2185C>T p.R729C Substitution - Missense 4:1953371-1953371 + 86507 COSM95511 c.1756G>C p.A586P Substitution - Missense 4:1938532-1938532 + TCGA-B5-A11E-01 COSM1054432 c.1577G>T p.R526I Substitution - Missense 4:1935165-1935165 + COLO-829 COSM36600 c.2754C>T p.F918F Substitution - coding silent 4:1956061-1956061 + CHC892T COSM4794635 c.515G>A p.S172N Substitution - Missense 4:1901169-1901169 + 19 COSM1645245 c.692C>T p.S231L Substitution - Missense 4:1904310-1904310 + LUAD-RT-S01702 COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + TCGA-BR-8680-01 COSM4123984 c.521A>C p.K174T Substitution - Missense 4:1901175-1901175 + Pat_46_A COSM5866177 c.3127C>T p.P1043S Substitution - Missense 4:1959612-1959612 + RK308_C01 COSM3767821 c.2029G>A p.G677S Substitution - Missense 4:1952123-1952123 + TCGA-FD-A3SO-01 COSM3775759 c.3550C>T p.L1184L Substitution - coding silent 4:1975329-1975329 + T263 COSM4741210 c.3886T>C p.C1296R Substitution - Missense 4:1978697-1978697 + TCGA-BR-7851-01 COSM3714781 c.2185C>T p.R729C Substitution - Missense 4:1953371-1953371 + TCGA-AA-3966-01 COSM273473 c.2028G>A p.P676P Substitution - coding silent 4:1952122-1952122 + 19 COSM3132336 c.2957G>A p.R986H Substitution - Missense 4:1958008-1958008 + TCGA-AP-A0LM-01 COSM1054443 c.3192G>T p.E1064D Substitution - Missense 4:1959677-1959677 + TCGA-24-2280-01 COSM118072 c.1017G>A p.E339E Substitution - coding silent 4:1918230-1918230 + TCGA-BR-6452-01 COSM4123982 c.428T>G p.I143S Substitution - Missense 4:1901082-1901082 + TCGA-CC-5264-01 COSM4915142 c.2824G>T p.G942W Substitution - Missense 4:1956131-1956131 + 09-859 COSM1645245 c.692C>T p.S231L Substitution - Missense 4:1904310-1904310 + K-562 COSM1670851 c.1798C>T p.R600* Substitution - Nonsense 4:1939695-1939695 + NCI-H2009 COSM26971 c.1685_1686insC p.E563fs*>23 Insertion - Frameshift 4:1978839-1978840 + 587220 COSM1232734 c.275G>A p.G92D Substitution - Missense 4:1900929-1900929 + T3202 COSM4741205 c.3560delA p.T1189fs*140 Deletion - Frameshift 4:1975339-1975339 + TCGA-BR-8360-01 COSM4124007 c.3147C>T p.G1049G Substitution - coding silent 4:1959632-1959632 + HCC2998 COSM1670853 c.2564C>A p.P855H Substitution - Missense 4:1955738-1955738 + 1N35-VS-1T35 COSM1540162 c.3294C>T p.D1098D Substitution - coding silent 4:1961073-1961073 + CCRF-CEM COSM1683348 c.2835_2836insC p.S946fs*21 Insertion - Frameshift 4:1956142-1956143 + TCGA-BT-A20T-01 COSM420624 c.2628G>A p.K876K Substitution - coding silent 4:1955802-1955802 + YUROL COSM5400989 c.3314G>A p.R1105K Substitution - Missense 4:1961093-1961093 + Pat_50_A COSM5866173 c.683C>T p.S228F Substitution - Missense 4:1904301-1904301 + EOPC-057_tumor_01 COSM5950981 c.3786C>T p.A1262A Substitution - coding silent 4:1976639-1976639 + YUDUTY COSM1694081 c.3607_3608GG>AA p.G1203K Substitution - Missense 4:1975386-1975387 + LAU63 COSM235573 c.141C>T p.F47F Substitution - coding silent 4:1900795-1900795 + TCGA-D3-A5GO-06 COSM3602817 c.863G>A p.G288E Substitution - Missense 4:1916973-1916973 + 155T COSM5576053 c.3235G>A p.A1079T Substitution - Missense 4:1959720-1959720 + CHC892T COSM4796219 c.1091G>A p.G364D Substitution - Missense 4:1918304-1918304 + S01512 COSM316562 c.1596A>G p.I532M Substitution - Missense 4:1935184-1935184 + COLO-829 COSM36600 c.2754C>T p.F918F Substitution - coding silent 4:1956061-1956061 + TCGA-CA-6717-01 COSM1429090 c.1422G>T p.E474D Substitution - Missense 4:1930637-1930637 + TCGA-IZ-A6M8-01 COSM3993611 c.3568G>C p.V1190L Substitution - Missense 4:1975347-1975347 + XHDG04 COSM4768113 c.3374A>G p.D1125G Substitution - Missense 4:1974864-1974864 + T3118 COSM4741203 c.3207G>T p.K1069N Substitution - Missense 4:1959692-1959692 + TCGA-A6-5665-01 COSM1429066 c.1009G>A p.V337M Substitution - Missense 4:1918222-1918222 + S02219 COSM1054437 c.2271C>T p.F757F Substitution - coding silent 4:1953457-1953457 + LAU63 COSM250029 c.107_119del? p.? Unknown 4:1900761-1900773 + CCK81 COSM1163361 c.4020_4021insC p.E1344fs*>23 Insertion - Frameshift 4:1978831-1978832 + 41T COSM3714779 c.82C>T p.L28F Substitution - Missense 4:1900736-1900736 + TCGA-A8-A06R-01 COSM447709 c.1289A>G p.D430G Substitution - Missense 4:1918502-1918502 + TCGA-BR-4362-01 COSM3714781 c.2185C>T p.R729C Substitution - Missense 4:1953371-1953371 + DLBCL895 COSM1581942 c.4046A>T p.K1349M Substitution - Missense 4:1978857-1978857 + TCGA-DK-A3IL-01 COSM1309966 c.1574A>G p.K525R Substitution - Missense 4:1935162-1935162 + T2999 COSM3132342 c.3312G>A p.A1104A Substitution - coding silent 4:1961091-1961091 + EV001-R8 COSM1161850 c.581G>T p.S194I Substitution - Missense 4:1901235-1901235 + 587220 COSM1232736 c.1279G>A p.A427T Substitution - Missense 4:1918492-1918492 + T368 COSM1054447 c.4057C>T p.R1353W Substitution - Missense 4:1978868-1978868 + TCGA-AA-3680-01 COSM293040 c.1740G>A p.S580S Substitution - coding silent 4:1938516-1938516 + HCC2998 COSM1670853 c.2564C>A p.P855H Substitution - Missense 4:1955738-1955738 + BD72T COSM5511990 c.4021_4022insC p.E1344fs*>23 Insertion - Frameshift 4:1978832-1978833 + TCGA-AP-A056-01 COSM1054435 c.1922A>G p.Y641C Substitution - Missense 4:1951112-1951112 + EGC15 COSM5060291 c.278C>T p.A93V Substitution - Missense 4:1900932-1900932 + sysucc-1370T COSM5471868 c.2881+4C>T p.? Unknown 4:1956192-1956192 + BD236T COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + TCGA-AP-A0LM-01 COSM1054436 c.2264G>A p.R755Q Substitution - Missense 4:1953450-1953450 + HCC074T COSM5810207 c.1397A>T p.K466I Substitution - Missense 4:1918610-1918610 + PARFTR COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + TCGA-BS-A0UJ-01 COSM1054439 c.2535C>A p.C845* Substitution - Nonsense 4:1955709-1955709 + ESO-141 COSM1270460 c.124C>T p.R42C Substitution - Missense 4:1900778-1900778 + TCGA-B6-A0I6-01 COSM447711 c.1777G>A p.A593T Substitution - Missense 4:1939674-1939674 + GHE0645 COSM5714672 c.2791A>G p.T931A Substitution - Missense 4:1956098-1956098 + EV001-R1 COSM1161850 c.581G>T p.S194I Substitution - Missense 4:1901235-1901235 + LUAD-YINHD COSM351006 c.1957G>T p.V653F Substitution - Missense 4:1951147-1951147 + SJDES020 COSM4585002 c.2331G>A p.P777P Substitution - coding silent 4:1953517-1953517 + TCGA-EE-A183-06 COSM3602825 c.1255G>A p.G419R Substitution - Missense 4:1918468-1918468 + TCGA-AP-A0LM-01 COSM1054415 c.125G>A p.R42H Substitution - Missense 4:1900779-1900779 + M008 COSM215940 c.3448A>G p.T1150A Substitution - Missense 4:1974938-1974938 + PT38 COSM5922425 c.1922A>T p.Y641F Substitution - Missense 4:1951112-1951112 + WA16 COSM238441 c.3858C>T p.D1286D Substitution - coding silent 4:1978669-1978669 + C391 COSM4441775 c.277G>A p.A93T Substitution - Missense 4:1900931-1900931 + MM1S COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + TCGA-FD-A3SN-01 COSM3775753 c.1494G>A p.Q498Q Substitution - coding silent 4:1930709-1930709 + CSB1 COSM5026115 c.1389C>G p.F463L Substitution - Missense 4:1918602-1918602 + TCGA-HU-8602-01 COSM4124003 c.2478C>T p.H826H Substitution - coding silent 4:1955300-1955300 + CHC892T COSM4794635 c.515G>A p.S172N Substitution - Missense 4:1901169-1901169 + SC_9037 COSM5563130 c.3010C>T p.Q1004* Substitution - Nonsense 4:1959495-1959495 + pfg272T COSM4748603 c.2671T>G p.Y891D Substitution - Missense 4:1955845-1955845 + I2L-P19Ta-Tumor-Biopsy COSM5355895 c.3951G>A p.P1317P Substitution - coding silent 4:1978762-1978762 + TCGA-10-0938-01 COSM69111 c.385delA p.T129fs*5 Deletion - Frameshift 4:1901039-1901039 + TCGA-BG-A0M7-01 COSM1054437 c.2271C>T p.F757F Substitution - coding silent 4:1953457-1953457 + TCGA-CD-8535-01 COSM4124021 c.3967T>C p.C1323R Substitution - Missense 4:1978778-1978778 + PD6411a COSM5788715 c.2933C>G p.A978G Substitution - Missense 4:1957984-1957984 + T3094 COSM1163361 c.4020_4021insC p.E1344fs*>23 Insertion - Frameshift 4:1978831-1978832 + TCGA-D3-A1QA-06 COSM3602827 c.2812C>T p.P938S Substitution - Missense 4:1956119-1956119 + YUKLAB COSM1694082 c.3787T>C p.Y1263H Substitution - Missense 4:1976640-1976640 + 2492710 COSM5717170 c.3039C>T p.I1013I Substitution - coding silent 4:1959524-1959524 + T3658 COSM4741194 c.289delA p.K97fs*9 Deletion - Frameshift 4:1900943-1900943 + TCGA-CH-5737-01 COSM3674156 c.3377G>A p.R1126H Substitution - Missense 4:1974867-1974867 + CSCC-44-T COSM4515917 c.1425_1426CC>TT p.P476S Substitution - Missense 4:1930640-1930641 + TCGA-D1-A103-01 COSM1054441 c.2749G>T p.E917* Substitution - Nonsense 4:1956056-1956056 + TCGA-EI-6917-01 COSM3428419 c.495G>A p.A165A Substitution - coding silent 4:1901149-1901149 + SNU-C4 COSM4653802 c.2682G>A p.W894* Substitution - Nonsense 4:1955989-1955989 + U2940 COSM5622183 c.1097C>T p.A366V Substitution - Missense 4:1918310-1918310 + 2321372 COSM4775157 c.2368G>A p.V790I Substitution - Missense 4:1955190-1955190 + CHC892T COSM4960087 c.66G>A p.K22K Substitution - coding silent 4:1900720-1900720 + 02-P170 COSM4585000 c.1229A>T p.E410V Substitution - Missense 4:1918442-1918442 + 49M COSM5593981 c.1312C>T p.P438S Substitution - Missense 4:1918525-1918525 + 8665_PT COSM5756472 c.3299A>T p.E1100V Substitution - Missense 4:1961078-1961078 + T2948 COSM4741192 c.84C>T p.L28L Substitution - coding silent 4:1900738-1900738 + TCGA-AD-6964-01 COSM1429108 c.3842C>A p.P1281H Substitution - Missense 4:1978653-1978653 + EV001-R2 COSM1161850 c.581G>T p.S194I Substitution - Missense 4:1901235-1901235 + STC232 COSM5060295 c.2491G>A p.V831M Substitution - Missense 4:1955313-1955313 + 8062306 COSM84842 c.3873T>G p.P1291P Substitution - coding silent 4:1978684-1978684 + CACO2 COSM4331545 c.1678G>C p.D560H Substitution - Missense 4:1938454-1938454 + TCGA-BS-A0TJ-01 COSM1054448 c.4072T>C p.W1358R Substitution - Missense 4:1978883-1978883 + PCSI_0161_Pa_P_526 COSM4809026 c.1458G>T p.L486L Substitution - coding silent 4:1930673-1930673 + TCGA-EE-A2GD-06 COSM3602804 c.215C>T p.P72L Substitution - Missense 4:1900869-1900869 + SS6003320 COSM4115466 c.3532A>G p.N1178D Substitution - Missense 4:1975311-1975311 + 1115202 COSM5551325 c.2056T>G p.C686G Substitution - Missense 4:1952150-1952150 + PA285 COSM1163361 c.4020_4021insC p.E1344fs*>23 Insertion - Frameshift 4:1978831-1978832 + TCGA-HU-8602-01 COSM4124002 c.2038C>T p.L680L Substitution - coding silent 4:1952132-1952132 + TCGA-AZ-6598-01 COSM1429101 c.2233delA p.K746fs*4 Deletion - Frameshift 4:1953419-1953419 + TCGA-27-1833-01 COSM3409221 c.2196A>G p.V732V Substitution - coding silent 4:1953382-1953382 + TCGA-IR-A3LK-01 COSM4818298 c.463G>C p.E155Q Substitution - Missense 4:1901117-1901117 + TCGA-B5-A11E-01 COSM1054447 c.4057C>T p.R1353W Substitution - Missense 4:1978868-1978868 + sysucc-783T COSM5484689 c.3474C>T p.D1158D Substitution - coding silent 4:1974964-1974964 + PD24325a COSM5781280 c.2771G>T p.G924V Substitution - Missense 4:1956078-1956078 + J10_T COSM3946261 c.2741A>G p.E914G Substitution - Missense 4:1956048-1956048 + CSCC-16-T COSM4489253 c.3451C>T p.L1151F Substitution - Missense 4:1974941-1974941 + LUAD-S01357 COSM387410 c.3148G>A p.E1050K Substitution - Missense 4:1959633-1959633 + 587316 COSM1232739 c.2383G>A p.G795R Substitution - Missense 4:1955205-1955205 + SW1417 COSM3132333 c.2831G>A p.R944Q Substitution - Missense 4:1956138-1956138 + RMS110_ COSM4987287 c.1364A>G p.D455G Substitution - Missense 4:1918577-1918577 + Pat_32_A COSM4124019 c.3959G>A p.R1320Q Substitution - Missense 4:1978770-1978770 + WA30 COSM242255 c.3255G>C p.K1085N Substitution - Missense 4:1959740-1959740 + ESCC_163 COSM5648063 c.1739C>T p.S580L Substitution - Missense 4:1938515-1938515 + ESO-859 COSM1240654 c.3325G>A p.A1109T Substitution - Missense 4:1961104-1961104 + 2277225 COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + YUKLAB COSM1694080 c.2480C>T p.A827V Substitution - Missense 4:1955302-1955302 + TCGA-AP-A0LM-01 COSM1054430 c.1249G>A p.D417N Substitution - Missense 4:1918462-1918462 + HCT15 COSM1429112 c.4021delC p.P1343fs*>23 Deletion - Frameshift 4:1978832-1978832 + TCGA-D1-A17Q-01 COSM1054434 c.1804C>T p.R602W Substitution - Missense 4:1939701-1939701 + ESCC_93 COSM5637268 c.3453C>G p.L1151L Substitution - coding silent 4:1974943-1974943 + TCGA-AX-A05Z-01 COSM1054416 c.205G>A p.D69N Substitution - Missense 4:1900859-1900859 + BD236T COSM3428419 c.495G>A p.A165A Substitution - coding silent 4:1901149-1901149 + EGC15 COSM5060293 c.2405G>C p.G802A Substitution - Missense 4:1955227-1955227 + TCGA-AX-A05Z-01 COSM1054433 c.1627G>A p.D543N Substitution - Missense 4:1935215-1935215 + TCGA-A8-A07C-01 COSM447712 c.2027C>G p.P676R Substitution - Missense 4:1952121-1952121 + 1N40-VS-1T40 COSM4975398 c.843C>T p.L281L Substitution - coding silent 4:1916953-1916953 + SC_9047 COSM5554130 c.868T>C p.F290L Substitution - Missense 4:1916978-1916978 + SJHYPO032 COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + GCT25 COSM5749262 c.773G>T p.S258I Substitution - Missense 4:1916883-1916883 + TCGA-QB-A6FS-06 COSM36600 c.2754C>T p.F918F Substitution - coding silent 4:1956061-1956061 + 86507 COSM95512 c.3050A>T p.N1017I Substitution - Missense 4:1959535-1959535 + ICGC_MB46 COSM215940 c.3448A>G p.T1150A Substitution - Missense 4:1974938-1974938 + WT040 COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + Pa18C COSM84842 c.3873T>G p.P1291P Substitution - coding silent 4:1978684-1978684 + XHDG33 COSM4769396 c.1675-9A>T p.? Unknown 4:1938442-1938442 + S01512 COSM316562 c.1596A>G p.I532M Substitution - Missense 4:1935184-1935184 + PARIAD COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + TCGA-EE-A2MR-06 COSM3602829 c.3015C>T p.I1005I Substitution - coding silent 4:1959500-1959500 + 587342 COSM1232745 c.493G>A p.A165T Substitution - Missense 4:1901147-1901147 + ESO-732 COSM293040 c.1740G>A p.S580S Substitution - coding silent 4:1938516-1938516 + pfg103T COSM1429112 c.4021delC p.P1343fs*>23 Deletion - Frameshift 4:1978832-1978832 + OSCC-GB_01000111 COSM4884169 c.2446C>G p.H816D Substitution - Missense 4:1955268-1955268 + TCGA-EK-A2RL-01 COSM4124023 c.3995C>T p.S1332L Substitution - Missense 4:1978806-1978806 + CSCC-27-T COSM4486475 c.3058C>T p.P1020S Substitution - Missense 4:1959543-1959543 + TCGA-B0-4706-01 COSM481150 c.2374T>C p.Y792H Substitution - Missense 4:1955196-1955196 + M029 COSM215940 c.3448A>G p.T1150A Substitution - Missense 4:1974938-1974938 + TCGA-E2-A10C-01 COSM447713 c.3502G>A p.D1168N Substitution - Missense 4:1974992-1974992 + 61 COSM5736879 c.3664_3666delAAG p.K1224delK Deletion - In frame 4:1976517-1976519 + SNUH_G16_S1 COSM3132290 c.1081A>C p.K361Q Substitution - Missense 4:1918294-1918294 + M023 COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + PD13418a COSM5776840 c.3630G>A p.T1210T Substitution - coding silent 4:1976483-1976483 + Pat_63_A COSM5866179 c.3143C>T p.A1048V Substitution - Missense 4:1959628-1959628 + sysucc-274T COSM5476519 c.1593G>A p.R531R Substitution - coding silent 4:1935181-1935181 + LIM2551 COSM4644598 c.2521G>T p.G841W Substitution - Missense 4:1955695-1955695 + TCGA-CG-5726-01 COSM4123997 c.1799G>A p.R600Q Substitution - Missense 4:1939696-1939696 + ESCC-152T COSM3940848 c.2305G>A p.A769T Substitution - Missense 4:1953491-1953491 + YUWAND COSM1694079 c.2329C>T p.P777S Substitution - Missense 4:1953515-1953515 + HCC017T COSM5815062 c.2818A>T p.M940L Substitution - Missense 4:1956125-1956125 + 1512 COSM215940 c.3448A>G p.T1150A Substitution - Missense 4:1974938-1974938 + S02292 COSM5687967 c.580A>C p.S194R Substitution - Missense 4:1901234-1901234 + 2321299 COSM4774919 c.1410G>A p.E470E Substitution - coding silent 4:1918623-1918623 + OSCC-GB_00810111 COSM4891227 c.2827G>T p.D943Y Substitution - Missense 4:1956134-1956134 + TCGA-AZ-4315-01 COSM1429109 c.3905C>T p.S1302L Substitution - Missense 4:1978716-1978716 + TCGA-A8-A07R-01 COSM447710 c.1656C>G p.D552E Substitution - Missense 4:1935244-1935244 + TCGA-BR-8487-01 COSM4123999 c.1872T>C p.T624T Substitution - coding silent 4:1939769-1939769 + 2521244 COSM5887278 c.3536A>C p.Y1179S Substitution - Missense 4:1975315-1975315 + TCGA-EJ-5504-01 COSM238441 c.3858C>T p.D1286D Substitution - coding silent 4:1978669-1978669 + HCC064T COSM5809913 c.519A>C p.I173I Substitution - coding silent 4:1901173-1901173 + TCGA-AA-3713-01 COSM1429112 c.4021delC p.P1343fs*>23 Deletion - Frameshift 4:1978832-1978832 + TCGA-B5-A0JR-01 COSM1054431 c.1502G>A p.R501H Substitution - Missense 4:1930717-1930717 + T3298 COSM1054431 c.1502G>A p.R501H Substitution - Missense 4:1930717-1930717 + TCGA-D1-A103-01 COSM1054414 c.80T>A p.I27N Substitution - Missense 4:1900734-1900734 + SA097 COSM214250 c.2738A>G p.H913R Substitution - Missense 4:1956045-1956045 + 2492708 COSM5717170 c.3039C>T p.I1013I Substitution - coding silent 4:1959524-1959524 + T3446 COSM4741207 c.3779C>T p.T1260I Substitution - Missense 4:1976632-1976632 + TCGA-B5-A11E-01 COSM1054446 c.3744C>T p.G1248G Substitution - coding silent 4:1976597-1976597 + TCGA-FJ-A3Z7-01 COSM3775750 c.583C>G p.P195A Substitution - Missense 4:1901237-1901237 + NPC29F COSM1309964 c.787C>T p.H263Y Substitution - Missense 4:1916897-1916897 + 1183 COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + ESO-859 COSM1240653 c.1937A>G p.E646G Substitution - Missense 4:1951127-1951127 + YUKAT COSM5112788 c.2323C>T p.P775S Substitution - Missense 4:1953509-1953509 + SC_9097 COSM5551337 c.2159G>A p.C720Y Substitution - Missense 4:1953345-1953345 + ccRCC-82 COSM1665027 c.997G>A p.A333T Substitution - Missense 4:1918210-1918210 + CHC1044T COSM4790998 c.2377C>T p.H793Y Substitution - Missense 4:1955199-1955199 + TCGA-EE-A183-06 COSM3602800 c.32C>T p.S11F Substitution - Missense 4:1900686-1900686 + pfg068T COSM4748608 c.3430T>G p.C1144G Substitution - Missense 4:1974920-1974920 + CH-144-T2 COSM215940 c.3448A>G p.T1150A Substitution - Missense 4:1974938-1974938 + EV001-R9 COSM1161850 c.581G>T p.S194I Substitution - Missense 4:1901235-1901235 + 90357 COSM329606 c.1356G>A p.R452R Substitution - coding silent 4:1918569-1918569 + TCGA-BH-A18G-01 COSM3825656 c.760+2T>C p.? Unknown 4:1904380-1904380 + T407 COSM4741198 c.1214T>G p.L405R Substitution - Missense 4:1918427-1918427 + ESCC_93 COSM5637270 c.3730C>T p.R1244C Substitution - Missense 4:1976583-1976583 + TCGA-BR-8368-01 COSM4124017 c.3892C>A p.L1298I Substitution - Missense 4:1978703-1978703 + TCGA-FW-A3R5-06 COSM3917612 c.2824G>A p.G942R Substitution - Missense 4:1956131-1956131 + TCGA-CZ-5986-01 COSM481151 c.3932C>T p.T1311I Substitution - Missense 4:1978743-1978743 + EV001-M2b COSM1161850 c.581G>T p.S194I Substitution - Missense 4:1901235-1901235 + C0081T COSM4155076 c.3054C>A p.C1018* Substitution - Nonsense 4:1959539-1959539 + 587226 COSM1232732 c.310G>A p.E104K Substitution - Missense 4:1900964-1900964 + RKO COSM1163361 c.4020_4021insC p.E1344fs*>23 Insertion - Frameshift 4:1978831-1978832 + EV001-M1 COSM1161850 c.581G>T p.S194I Substitution - Missense 4:1901235-1901235 + CSCC-15-T COSM4564078 c.1905_1906GC>AT p.P636S Substitution - Missense 4:1951095-1951096 + tumor_4110378 COSM5946477 c.3575G>A p.R1192Q Substitution - Missense 4:1975354-1975354 + CHC1044T COSM4790998 c.2377C>T p.H793Y Substitution - Missense 4:1955199-1955199 + TCGA-EE-A3AA-06 COSM3132312 c.1910C>T p.S637L Substitution - Missense 4:1951100-1951100 + TCGA-B5-A11Y-01 COSM1054429 c.778C>T p.R260C Substitution - Missense 4:1916888-1916888 + TCGA-B5-A0JY-01 COSM1054417 c.229G>A p.D77N Substitution - Missense 4:1900883-1900883 + TCGA-CG-5728-01 COSM4124009 c.3291C>T p.I1097I Substitution - coding silent 4:1961070-1961070 + TCGA-EE-A29M-06 COSM3602821 c.1127C>T p.S376F Substitution - Missense 4:1918340-1918340 + TCGA-D9-A6EC-06 COSM4400729 c.530C>T p.S177F Substitution - Missense 4:1901184-1901184 + PASLZM COSM215940 c.3448A>G p.T1150A Substitution - Missense 4:1974938-1974938 + ASHPC_0009_Pa_P COSM3781150 c.3479G>A p.R1160H Substitution - Missense 4:1974969-1974969 + BK0015 COSM4185865 c.484G>C p.E162Q Substitution - Missense 4:1901138-1901138 + TCGA-CG-5733-01 COSM4123986 c.747T>C p.Y249Y Substitution - coding silent 4:1904365-1904365 + PAPEFH COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + TCGA-D1-A17Q-01 COSM1054445 c.3683G>A p.R1228H Substitution - Missense 4:1976536-1976536 + 12-P279 COSM4584998 c.509A>C p.K170T Substitution - Missense 4:1901163-1901163 + TCGA-A3-3374-01 COSM1495804 c.62T>A p.M21K Substitution - Missense 4:1900716-1900716 + TCGA-DA-A3F5-06 COSM3602819 c.960C>T p.A320A Substitution - coding silent 4:1918173-1918173 + TCGA-C5-A1BQ-01 COSM4842491 c.988G>T p.E330* Substitution - Nonsense 4:1918201-1918201 + TCGA-G3-A25S-01 COSM4927047 c.2699A>G p.H900R Substitution - Missense 4:1956006-1956006 + sysucc-1339T COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + 001 COSM1161850 c.581G>T p.S194I Substitution - Missense 4:1901235-1901235 + EV001-R5 COSM1161850 c.581G>T p.S194I Substitution - Missense 4:1901235-1901235 + ESCC_110 COSM5639247 c.3410C>T p.S1137F Substitution - Missense 4:1974900-1974900 + 1813 COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + 587222 COSM1232742 c.4017G>T p.E1339D Substitution - Missense 4:1978828-1978828 + 7T COSM4741210 c.3886T>C p.C1296R Substitution - Missense 4:1978697-1978697 + T3049 COSM387409 c.2863G>A p.G955R Substitution - Missense 4:1956170-1956170 + STC232 COSM1163361 c.4020_4021insC p.E1344fs*>23 Insertion - Frameshift 4:1978831-1978832 + Gp2D COSM3132326 c.2445C>A p.A815A Substitution - coding silent 4:1955267-1955267 + Pat_46_B COSM5866177 c.3127C>T p.P1043S Substitution - Missense 4:1959612-1959612 + TCGA-CA-6717-01 COSM1429102 c.2676-1G>T p.? Unknown 4:1955982-1955982 + T3610 COSM4741201 c.2908C>T p.R970C Substitution - Missense 4:1957959-1957959 + TCGA-04-1338-01 COSM78778 c.3259G>C p.E1087Q Substitution - Missense 4:1961038-1961038 + TCGA-AP-A0LM-01 COSM1054440 c.2580C>T p.I860I Substitution - coding silent 4:1955754-1955754 + TCGA-DK-A3IU-01 COSM3775757 c.2474A>C p.H825P Substitution - Missense 4:1955296-1955296 + 587222 COSM1232740 c.310G>T p.E104* Substitution - Nonsense 4:1900964-1900964 + C0017T COSM1054442 c.2802G>A p.A934A Substitution - coding silent 4:1956109-1956109 + TCGA-CD-A4MG-01 COSM4124005 c.2803C>T p.R935* Substitution - Nonsense 4:1956110-1956110 + SC_9047 COSM5572507 c.784T>A p.Y262N Substitution - Missense 4:1916894-1916894 + EGC15 COSM1240654 c.3325G>A p.A1109T Substitution - Missense 4:1961104-1961104 + TCGA-CG-5723-01 COSM4124019 c.3959G>A p.R1320Q Substitution - Missense 4:1978770-1978770 + TCGA-DK-A1A3-01 COSM420625 c.841C>A p.L281I Substitution - Missense 4:1916951-1916951 + TCGA-DY-A1DD-01 COSM1567386 c.469A>T p.N157Y Substitution - Missense 4:1901123-1901123 + TCGA-BT-A3PH-01 COSM1309964 c.787C>T p.H263Y Substitution - Missense 4:1916897-1916897 + ESO-0029 COSM1270458 c.1061A>T p.H354L Substitution - Missense 4:1918274-1918274 + 2293776 COSM351006 c.1957G>T p.V653F Substitution - Missense 4:1951147-1951147 + TCGA-CD-A4MG-01 COSM4124013 c.3611A>G p.D1204G Substitution - Missense 4:1975390-1975390 + TCGA-EE-A2A1-06 COSM3602823 c.1128C>T p.S376S Substitution - coding silent 4:1918341-1918341 + CSCC-5-T COSM4484061 c.2766C>T p.F922F Substitution - coding silent 4:1956073-1956073 + GHE0536 COSM5713878 c.2773T>C p.S925P Substitution - Missense 4:1956080-1956080 + 2011-2300:2012-321-T COSM4605124 c.3259G>A p.E1087K Substitution - Missense 4:1961038-1961038 + TCGA-AP-A051-01 COSM1054438 c.2485G>A p.V829I Substitution - Missense 4:1955307-1955307 + SNU-C4 COSM1429112 c.4021delC p.P1343fs*>23 Deletion - Frameshift 4:1978832-1978832 + TCGA-BR-8487-01 COSM4124001 c.2033G>A p.S678N Substitution - Missense 4:1952127-1952127 + 2321370 COSM4775148 c.2490C>T p.N830N Substitution - coding silent 4:1955312-1955312 + TCGA-JX-A3Q0-01 COSM4824902 c.3234C>G p.V1078V Substitution - coding silent 4:1959719-1959719 + TCGA-BR-8384-01 COSM4124015 c.3681G>A p.R1227R Substitution - coding silent 4:1976534-1976534 + TCGA-CM-4743-01 COSM1429106 c.3379A>G p.I1127V Substitution - Missense 4:1974869-1974869 + I2L-P19Ta-Tumor-Organoid COSM5355895 c.3951G>A p.P1317P Substitution - coding silent 4:1978762-1978762 + EV001-M2a COSM1161850 c.581G>T p.S194I Substitution - Missense 4:1901235-1901235 + TCGA-CF-A1HR-01 COSM420623 c.3875C>T p.S1292L Substitution - Missense 4:1978686-1978686 + CHC892T COSM4960087 c.66G>A p.K22K Substitution - coding silent 4:1900720-1900720 + TCGA-A7-A13E-01 COSM3825659 c.2834G>C p.G945A Substitution - Missense 4:1956141-1956141 + 71T COSM5575869 c.3320A>G p.K1107R Substitution - Missense 4:1961099-1961099 + TCGA-G2-A2ES-01 COSM1309968 c.2672A>G p.Y891C Substitution - Missense 4:1955846-1955846 + TCGA-BR-8591-01 COSM4124023 c.3995C>T p.S1332L Substitution - Missense 4:1978806-1978806 + SW48 COSM3132331 c.2686G>A p.A896T Substitution - Missense 4:1955993-1955993 + 51T COSM3714781 c.2185C>T p.R729C Substitution - Missense 4:1953371-1953371 + TCGA-AP-A0LM-01 COSM1054444 c.3324C>T p.H1108H Substitution - coding silent 4:1961103-1961103 + LUAD-RT-S01808 COSM382716 c.1322G>T p.R441M Substitution - Missense 4:1918535-1918535 + T2940 COSM238441 c.3858C>T p.D1286D Substitution - coding silent 4:1978669-1978669 + TCGA-FS-A1ZC-06 COSM3602802 c.62T>G p.M21R Substitution - Missense 4:1900716-1900716 + M022 COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + 2321314 COSM379334 c.3295G>A p.E1099K Substitution - Missense 4:1961074-1961074 + TCGA-27-1835-01 COSM3409223 c.3798C>A p.S1266S Substitution - coding silent 4:1976651-1976651 + TCGA-AX-A05Z-01 COSM1054442 c.2802G>A p.A934A Substitution - coding silent 4:1956109-1956109 + EV001-R4 COSM1161850 c.581G>T p.S194I Substitution - Missense 4:1901235-1901235 + TCGA-AA-A00N-01 COSM278138 c.1924G>A p.E642K Substitution - Missense 4:1951114-1951114 + CHC892T COSM4796219 c.1091G>A p.G364D Substitution - Missense 4:1918304-1918304 + BD72T COSM5511988 c.494C>T p.A165V Substitution - Missense 4:1901148-1901148 + TCGA-BR-8372-01 COSM4123995 c.1501C>T p.R501C Substitution - Missense 4:1930716-1930716 + 2492709 COSM5717170 c.3039C>T p.I1013I Substitution - coding silent 4:1959524-1959524 + TCGA-C5-A1BQ-01 COSM4841738 c.916G>A p.E306K Substitution - Missense 4:1917026-1917026 + 37M COSM1429109 c.3905C>T p.S1302L Substitution - Missense 4:1978716-1978716 + LUAD-NYU1096 COSM369181 c.108G>A p.P36P Substitution - coding silent 4:1900762-1900762 + SNU-175 COSM3132351 c.3840T>C p.C1280C Substitution - coding silent 4:1978651-1978651 + T1182 COSM4741196 c.395A>G p.Y132C Substitution - Missense 4:1901049-1901049 + MO_1012 COSM3132286 c.808G>A p.A270T Substitution - Missense 4:1916918-1916918 + TCGA-CM-4743-01 COSM3132329 c.2519-1delG p.? Unknown 4:1955692-1955692 + TCGA-09-0369-01 COSM81915 c.4000A>C p.R1334R Substitution - coding silent 4:1978811-1978811 + LUAD-S01357 COSM387409 c.2863G>A p.G955R Substitution - Missense 4:1956170-1956170 + LUAD-D01278 COSM362959 c.2909G>T p.R970L Substitution - Missense 4:1957960-1957960 + 2521244 COSM5887276 c.3535T>G p.Y1179D Substitution - Missense 4:1975314-1975314 + TCGA-CM-4743-01 COSM1429112 c.4021delC p.P1343fs*>23 Deletion - Frameshift 4:1978832-1978832 + 587228 COSM1232738 c.1979G>A p.R660Q Substitution - Missense 4:1951169-1951169 + 2367454 COSM1232738 c.1979G>A p.R660Q Substitution - Missense 4:1951169-1951169 + 587284 COSM1232743 c.1201C>T p.R401W Substitution - Missense 4:1918414-1918414 + LUAD-RT-S01769 COSM380998 c.3285G>A p.E1095E Substitution - coding silent 4:1961064-1961064 + TCGA-DK-A2I4-01 COSM3775755 c.1743C>G p.L581L Substitution - coding silent 4:1938519-1938519 + 8665_CLM COSM5756472 c.3299A>T p.E1100V Substitution - Missense 4:1961078-1961078 + OSCC-GB_00410111 COSM3714779 c.82C>T p.L28F Substitution - Missense 4:1900736-1900736 + DLBCL704 COSM1581941 c.3376C>T p.R1126C Substitution - Missense 4:1974866-1974866 + EV001-R3 COSM1161850 c.581G>T p.S194I Substitution - Missense 4:1901235-1901235 + TCGA-HU-A4H8-01 COSM4123993 c.1246C>T p.P416S Substitution - Missense 4:1918459-1918459 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.113876 4p16.3 602952

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.H825P c.2474A>C 4 1957023 BLCA A C Synonymous p.R1334R c.4000A>C 4 1980538 OV A - Frameshift p.T129Pfs*5 c.385delA 4 1902766 OV A G Missense p.D430G c.1289A>G 4 1920229 BRCA A G Missense p.E646G c.1937A>G 4 1952854 ESCA A G Missense p.H913R c.2738A>G 4 1957772 BRCA A G Missense p.I532M c.1596A>G 4 1936911 SCLC A G Missense p.K525R c.1574A>G 4 1936889 BLCA A G Missense p.T1150A c.3448A>G 4 1976665 MB A G Missense p.Y891C c.2672A>G 4 1957573 BLCA A G Synonymous p.V732V c.2196A>G 4 1955109 GBM A T Missense p.D543V c.1628A>T 4 1936943 HNSC A T Missense p.H354L c.1061A>T 4 1920001 ESCA A T Missense p.H715L c.2144A>T 4 1955057 HNSC A T Missense p.Q648L c.1943A>T 4 1952860 CM A T Missense p.S172C c.514A>T 4 1902895 HNSC A T Synonymous p.S377S c.1131A>T 4 1920071 LUSC C A Missense p.L281I c.841C>A 4 1918678 BLCA C A Missense p.P1300T c.3898C>A 4 1980436 HNSC C A Missense p.S1143R c.3429C>A 4 1976646 HNSC C A Synonymous p.S1266S c.3798C>A 4 1978378 GBM CC AA Missense p.P919N c.2755_2756delinsAA 4 1957789 CM CC TA Missense p.P938* c.2812_2813delinsTA 4 1957846 CM - C Frameshift p.S946Qfs*21 c.2835dupC 4 1957869 HNSC CG AT Missense p.R85M c.253_254delinsAT 4 1902634 CM C G Missense p.D552E c.1656C>G 4 1936971 BRCA C G Missense p.F463L c.1389C>G 4 1920329 BRCA C G Missense p.H715Q c.2145C>G 4 1955058 LUAD C G Missense p.P676R c.2027C>G 4 1953848 BRCA C G Missense p.Q465E c.1393C>G 4 1920333 CM C G Synonymous p.L581L c.1743C>G 4 1940246 BLCA C T Missense p.H263Y c.787C>T 4 1918624 BLCA C T Missense p.P1132L c.3395C>T 4 1976612 LUAD C T Missense p.P137L c.410C>T 4 1902791 LUAD C T Missense p.P72L c.215C>T 4 1902596 CM C T Missense p.P777S c.2329C>T 4 1955242 CM C T Missense p.R260C c.778C>T 4 1918615 UCEC C T Missense p.R42C c.124C>T 4 1902505 ESCA C T Missense p.S11F c.32C>T 4 1902413 CM C T Missense p.S1292L c.3875C>T 4 1980413 BLCA C T Missense p.S376F c.1127C>T 4 1920067 CM C T Missense p.S479L c.1436C>T 4 1932378 CM C T Missense p.S637L c.1910C>T 4 1952827 CM C T Missense p.S655F c.1964C>T 4 1952881 CM C T Missense p.T1058I c.3173C>T 4 1961385 CM C T Missense p.T1311I c.3932C>T 4 1980470 RCCC C T Synonymous p.A320A c.960C>T 4 1919900 CM C T Synonymous p.D1286D c.3858C>T 4 1980396 PRAD C T Synonymous p.F757F c.2271C>T 4 1955184 UCEC C T Synonymous p.I1097I c.3291C>T 4 1962797 STAD C T Synonymous p.S376S c.1128C>T 4 1920068 CM C T Synonymous p.Y233Y c.699C>T 4 1906044 CM G A IntronicSNV . c.3373-211G>A 4 1976379 UCEC G A IntronicSNV . c.3827-642G>A 4 1979723 PIA G A Missense p.A1109T c.3325G>A 4 1962831 ESCA G A Missense p.A593T c.1777G>A 4 1941401 BRCA G A Missense p.G1049D c.3146G>A 4 1961358 CM G A Missense p.G1319R c.3955G>A 4 1980493 BRCA G A Missense p.G419R c.1255G>A 4 1920195 CM G A Missense p.G822R c.2464G>A 4 1957013 CM G A Missense p.R1126H c.3377G>A 4 1976594 PRAD G A Missense p.R501H c.1502G>A 4 1932444 UCEC G A Missense p.R600Q c.1799G>A 4 1941423 STAD G A Synonymous p.E339E c.1017G>A 4 1919957 OV G A Synonymous p.K876K c.2628G>A 4 1957529 BLCA G A Synonymous p.S580S c.1740G>A 4 1940243 COREAD G C IntronicSNV . c.1757-151G>C 4 1941230 RCCC G C Missense p.D1125H c.3373G>C 4 1976590 ALL G C Missense p.E1087Q c.3259G>C 4 1962765 OV G C Missense p.G434R c.1300G>C 4 1920240 RCCC - G IntronicInsertion . c.2138-69dupG 4 1954981 BRCA G T Missense p.A961S c.2881G>T 4 1957915 HNSC G T Missense p.E542D c.1626G>T 4 1936941 LUSC G T Missense p.G109W c.325G>T 4 1902706 HNSC G T Missense p.G865C c.2593G>T 4 1957494 LUAD G T Synonymous p.S231S c.693G>T 4 1906038 CM G T Synonymous p.S629S c.1887G>T 4 1952804 LUAD T A 3-UTRSNV . c.4095+3287T>A 4 1983920 HC T C Missense p.M862T c.2585T>C 4 1957486 CM T C Missense p.W1358R c.4072T>C 4 1980610 UCEC T C Synonymous p.Y249Y c.747T>C 4 1906092 STAD T G IntronicSNV . c.1757-36T>G 4 1941345 CM T G Missense p.M21R c.62T>G 4 1902443 CM T G Synonymous p.P1291P c.3873T>G 4 1980411 PAAD