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 1 173912683 173912683 + Missense_Mutation SNP G G A TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr1:173912683G>A c.3032C>T c.(3031-3033)cCg>cTg p.P1011L BLCA 1 173907942 173907942 + Missense_Mutation SNP G G C TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 g.chr1:173907942G>C c.3319C>G c.(3319-3321)Ctg>Gtg p.L1107V BLCA 1 173910450 173910450 + Silent SNP T T C TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr1:173910450T>C c.3204A>G c.(3202-3204)ccA>ccG p.P1068P BLCA 1 173915918 173915918 + Missense_Mutation SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr1:173915918G>C c.2794C>G c.(2794-2796)Caa>Gaa p.Q932E BLCA 1 173916585 173916585 + Nonsense_Mutation SNP T T A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 g.chr1:173916585T>A c.2659A>T c.(2659-2661)Aaa>Taa p.K887* BLCA 1 173916674 173916674 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr1:173916674C>G c.2570G>C c.(2569-2571)aGa>aCa p.R857T BLCA 1 173916678 173916678 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:173916678G>A c.2566C>T c.(2566-2568)Cag>Tag p.Q856* BLCA 1 173921231 173921231 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr1:173921231C>T c.2416G>A c.(2416-2418)Gat>Aat p.D806N BLCA 1 173921267 173921267 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr1:173921267C>T c.2380G>A c.(2380-2382)Gaa>Aaa p.E794K BLCA 1 173930270 173930270 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:173930270G>C c.2315C>G c.(2314-2316)tCt>tGt p.S772C BLCA 1 173930937 173930937 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr1:173930937C>G c.2128G>C c.(2128-2130)Gaa>Caa p.E710Q BLCA 1 173931017 173931017 + Missense_Mutation SNP C C T TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr1:173931017C>T c.2048G>A c.(2047-2049)aGa>aAa p.R683K BLCA 1 173934023 173934023 + Missense_Mutation SNP T T G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:173934023T>G c.1570A>C c.(1570-1572)Aaa>Caa p.K524Q BLCA 1 173934024 173934024 + Silent SNP T T C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr1:173934024T>C c.1569A>G c.(1567-1569)ggA>ggG p.G523G BLCA 1 173934216 173934216 + Missense_Mutation SNP C C G TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr1:173934216C>G c.1377G>C c.(1375-1377)ttG>ttC p.L459F BLCA 1 173934254 173934254 + Missense_Mutation SNP G G A TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chr1:173934254G>A c.1339C>T c.(1339-1341)Cgt>Tgt p.R447C BLCA 1 173939703 173939703 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 g.chr1:173939703C>G c.1274G>C c.(1273-1275)aGa>aCa p.R425T BLCA 1 173939705 173939705 + Missense_Mutation SNP C C G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr1:173939705C>G c.1272G>C c.(1270-1272)caG>caC p.Q424H BLCA 1 173941653 173941653 + Missense_Mutation SNP C C A TCGA-BT-A20V-01A-11D-A14W-08 TCGA-BT-A20V-11A-11D-A14W-08 g.chr1:173941653C>A c.1215G>T c.(1213-1215)caG>caT p.Q405H BLCA 1 173947722 173947722 + Missense_Mutation SNP C C T TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 g.chr1:173947722C>T c.1006G>A c.(1006-1008)Gaa>Aaa p.E336K BLCA 1 173947732 173947732 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr1:173947732C>G c.996G>C c.(994-996)caG>caC p.Q332H BLCA 1 173951947 173951947 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:173951947C>A c.686G>T c.(685-687)aGa>aTa p.R229I BLCA 1 173952637 173952637 + Missense_Mutation SNP G G C TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr1:173952637G>C c.511C>G c.(511-513)Ctc>Gtc p.L171V BLCA 1 173952641 173952641 + Silent SNP G G A TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr1:173952641G>A c.507C>T c.(505-507)ctC>ctT p.L169L BLCA 1 173953689 173953689 + Silent SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr1:173953689C>T c.300G>A c.(298-300)aaG>aaA p.K100K BRCA 1 173916576 173916576 + Missense_Mutation SNP A A G TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr1:173916576A>G c.2668T>C c.(2668-2670)Tat>Cat p.Y890H BRCA 1 173916616 173916616 + Silent SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 g.chr1:173916616C>G c.2628G>C c.(2626-2628)gtG>gtC p.V876V BRCA 1 173930909 173930909 + Missense_Mutation SNP T T C TCGA-A8-A06T-01A-11W-A019-09 TCGA-A8-A06T-10A-01W-A021-09 g.chr1:173930909T>C c.2156A>G c.(2155-2157)tAt>tGt p.Y719C BRCA 1 173930982 173930982 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:173930982C>T c.2083G>A c.(2083-2085)Gag>Aag p.E695K BRCA 1 173939653 173939653 + Missense_Mutation SNP C C T TCGA-A8-A08B-01A-11W-A019-09 TCGA-A8-A08B-10A-01W-A021-09 g.chr1:173939653C>T c.1324G>A c.(1324-1326)Gaa>Aaa p.E442K BRCA 1 173952756 173952756 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:173952756C>T c.392G>A c.(391-393)cGc>cAc p.R131H BRCA 1 173962098 173962098 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr1:173962098G>T c.26C>A c.(25-27)aCg>aAg p.T9K CESC 1 173915654 173915654 + Missense_Mutation SNP T T A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 g.chr1:173915654T>A c.2921A>T c.(2920-2922)aAc>aTc p.N974I CESC 1 173961967 173961967 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:173961967C>G c.157G>C c.(157-159)Gac>Cac p.D53H COAD 1 173915731 173915731 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:173915731C>T c.2844G>A c.(2842-2844)atG>atA p.M948I COAD 1 173915735 173915735 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:173915735G>T c.2840C>A c.(2839-2841)tCt>tAt p.S947Y COAD 1 173916541 173916541 + Silent SNP A A G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr1:173916541A>G c.2703T>C c.(2701-2703)ccT>ccC p.P901P COAD 1 173916684 173916684 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:173916684C>T c.2560G>A c.(2560-2562)Gat>Aat p.D854N COAD 1 173930315 173930315 + Missense_Mutation SNP C C T TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr1:173930315C>T c.2270G>A c.(2269-2271)cGa>cAa p.R757Q COAD 1 173930350 173930350 + Silent SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr1:173930350G>A c.2235C>T c.(2233-2235)ccC>ccT p.P745P COAD 1 173930955 173930955 + Missense_Mutation SNP A A T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:173930955A>T c.2110T>A c.(2110-2112)Tat>Aat p.Y704N COAD 1 173939682 173939682 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr1:173939682G>A c.1295C>T c.(1294-1296)gCc>gTc p.A432V COAD 1 173941727 173941727 + Missense_Mutation SNP G G T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:173941727G>T c.1141C>A c.(1141-1143)Ctg>Atg p.L381M COAD 1 173950025 173950025 + Silent SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:173950025T>G c.891A>C c.(889-891)cgA>cgC p.R297R COAD 1 173950102 173950102 + Nonsense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:173950102C>A c.814G>T c.(814-816)Gaa>Taa p.E272* COAD 1 173951863 173951863 + Splice_Site SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:173951863A>G c.e5+1 COAD 1 173952672 173952672 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:173952672C>T c.476G>A c.(475-477)cGa>cAa p.R159Q COAD 1 173953673 173953673 + Silent SNP A A G TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr1:173953673A>G c.316T>C c.(316-318)Tta>Cta p.L106L COAD 1 173962058 173962058 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:173962058G>A c.66C>T c.(64-66)gaC>gaT p.D22D COAD 1 173962094 173962094 + Silent SNP A A G TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr1:173962094A>G c.30T>C c.(28-30)gaT>gaC p.D10D COADREAD 1 173915731 173915731 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:173915731C>T c.2844G>A c.(2842-2844)atG>atA p.M948I COADREAD 1 173915735 173915735 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:173915735G>T c.2840C>A c.(2839-2841)tCt>tAt p.S947Y COADREAD 1 173916541 173916541 + Silent SNP A A G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr1:173916541A>G c.2703T>C c.(2701-2703)ccT>ccC p.P901P COADREAD 1 173916684 173916684 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:173916684C>T c.2560G>A c.(2560-2562)Gat>Aat p.D854N COADREAD 1 173930315 173930315 + Missense_Mutation SNP C C T TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr1:173930315C>T c.2270G>A c.(2269-2271)cGa>cAa p.R757Q COADREAD 1 173930350 173930350 + Silent SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr1:173930350G>A c.2235C>T c.(2233-2235)ccC>ccT p.P745P COADREAD 1 173930955 173930955 + Missense_Mutation SNP A A T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:173930955A>T c.2110T>A c.(2110-2112)Tat>Aat p.Y704N COADREAD 1 173939682 173939682 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr1:173939682G>A c.1295C>T c.(1294-1296)gCc>gTc p.A432V COADREAD 1 173941727 173941727 + Missense_Mutation SNP G G T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:173941727G>T c.1141C>A c.(1141-1143)Ctg>Atg p.L381M COADREAD 1 173950025 173950025 + Silent SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:173950025T>G c.891A>C c.(889-891)cgA>cgC p.R297R COADREAD 1 173950102 173950102 + Nonsense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:173950102C>A c.814G>T c.(814-816)Gaa>Taa p.E272* COADREAD 1 173951863 173951863 + Splice_Site SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:173951863A>G c.e5+1 COADREAD 1 173952672 173952672 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:173952672C>T c.476G>A c.(475-477)cGa>cAa p.R159Q COADREAD 1 173953673 173953673 + Silent SNP A A G TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr1:173953673A>G c.316T>C c.(316-318)Tta>Cta p.L106L COADREAD 1 173962058 173962058 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:173962058G>A c.66C>T c.(64-66)gaC>gaT p.D22D COADREAD 1 173962094 173962094 + Silent SNP A A G TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr1:173962094A>G c.30T>C c.(28-30)gaT>gaC p.D10D DLBC 1 173916598 173916598 + Silent SNP G G A TCGA-FA-A7Q1-01A-11D-A382-10 TCGA-FA-A7Q1-10A-01D-A385-10 g.chr1:173916598G>A c.2646C>T c.(2644-2646)atC>atT p.I882I DLBC 1 173951933 173951933 + Missense_Mutation SNP A A T TCGA-FF-A7CW-01A-11D-A382-10 TCGA-FF-A7CW-10A-01D-A385-10 g.chr1:173951933A>T c.700T>A c.(700-702)Ttt>Att p.F234I ESCA 1 173931047 173931047 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 g.chr1:173931047C>T c.2018G>A c.(2017-2019)cGt>cAt p.R673H ESCA 1 173933252 173933252 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr1:173933252C>G c.1690G>C c.(1690-1692)Gat>Cat p.D564H ESCA 1 173933253 173933253 + Silent SNP T T A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr1:173933253T>A c.1689A>T c.(1687-1689)gcA>gcT p.A563A ESCA 1 173934234 173934234 + Silent SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 g.chr1:173934234C>A c.1359G>T c.(1357-1359)ctG>ctT p.L453L GBMLGG 1 173930321 173930321 + Missense_Mutation SNP T T A TCGA-FG-A60K-01A-11D-A29Q-08 TCGA-FG-A60K-10A-01D-A29Q-08 g.chr1:173930321T>A c.2264A>T c.(2263-2265)cAt>cTt p.H755L HNSC 1 173907909 173907909 + Missense_Mutation SNP C C A TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 g.chr1:173907909C>A c.3352G>T c.(3352-3354)Gat>Tat p.D1118Y HNSC 1 173915954 173915954 + Missense_Mutation SNP G G A TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chr1:173915954G>A c.2758C>T c.(2758-2760)Cac>Tac p.H920Y HNSC 1 173931010 173931010 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chr1:173931010C>G c.2055G>C c.(2053-2055)gaG>gaC p.E685D HNSC 1 173934113 173934113 + Missense_Mutation SNP G G C TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr1:173934113G>C c.1480C>G c.(1480-1482)Cca>Gca p.P494A HNSC 1 173934116 173934116 + Missense_Mutation SNP G G T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 g.chr1:173934116G>T c.1477C>A c.(1477-1479)Ctg>Atg p.L493M HNSC 1 173951938 173951938 + Missense_Mutation SNP G G A TCGA-P3-A6T0-01A-12D-A34J-08 TCGA-P3-A6T0-10A-01D-A34M-08 g.chr1:173951938G>A c.695C>T c.(694-696)cCa>cTa p.P232L HNSC 1 173951999 173951999 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr1:173951999C>G c.634G>C c.(634-636)Gaa>Caa p.E212Q HNSC 1 173952657 173952657 + Missense_Mutation SNP C C T TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 g.chr1:173952657C>T c.491G>A c.(490-492)cGa>cAa p.R164Q HNSC 1 173952661 173952661 + Nonsense_Mutation SNP C C A TCGA-CN-6988-01A-11D-1912-08 TCGA-CN-6988-10A-01D-1912-08 g.chr1:173952661C>A c.487G>T c.(487-489)Gaa>Taa p.E163* HNSC 1 173952700 173952702 + In_Frame_Del DEL CTT CTT - TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 g.chr1:173952700_173952702delCTT c.446_448delAAG c.(445-450)gaaggc>ggc p.E149del HNSC 1 173952772 173952772 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr1:173952772G>C c.376C>G c.(376-378)Cag>Gag p.Q126E HNSC 1 173961928 173961928 + Missense_Mutation SNP C C A TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 g.chr1:173961928C>A c.196G>T c.(196-198)Gtg>Ttg p.V66L KICH 1 173912597 173912597 + Missense_Mutation SNP T T C TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr1:173912597T>C c.3118A>G c.(3118-3120)Aca>Gca p.T1040A KICH 1 173921192 173921192 + Missense_Mutation SNP C C A TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr1:173921192C>A c.2455G>T c.(2455-2457)Ggc>Tgc p.G819C KIPAN 1 173912597 173912597 + Missense_Mutation SNP T T C TCGA-KL-8323-01A-21D-2310-10 TCGA-KL-8323-11A-01D-2310-10 g.chr1:173912597T>C c.3118A>G c.(3118-3120)Aca>Gca p.T1040A KIPAN 1 173916561 173916561 + Missense_Mutation SNP G G C TCGA-B0-4839-01A-01D-1373-10 TCGA-B0-4839-11A-01D-1373-10 g.chr1:173916561G>C c.2683C>G c.(2683-2685)Cca>Gca p.P895A KIPAN 1 173916659 173916660 + Frame_Shift_Del DEL GT GT - TCGA-G7-6790-01A-11D-1961-08 TCGA-G7-6790-10A-01D-1962-08 g.chr1:173916659_173916660delGT c.2584_2585delAC c.(2584-2586)accfs p.T862fs KIPAN 1 173921192 173921192 + Missense_Mutation SNP C C A TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr1:173921192C>A c.2455G>T c.(2455-2457)Ggc>Tgc p.G819C KIPAN 1 173921219 173921219 + Missense_Mutation SNP A A G TCGA-UZ-A9PP-01A-11D-A42J-10 TCGA-UZ-A9PP-10A-01D-A42M-10 g.chr1:173921219A>G c.2428T>C c.(2428-2430)Tac>Cac p.Y810H KIPAN 1 173934019 173934019 + Missense_Mutation SNP A A G TCGA-CJ-4912-01A-01D-1429-08 TCGA-CJ-4912-11A-01D-1429-08 g.chr1:173934019A>G c.1574T>C c.(1573-1575)aTa>aCa p.I525T KIPAN 1 173950062 173950074 + Frame_Shift_Del DEL GAGTCATGTTCTC GAGTCATGTTCTC - TCGA-A3-3367-01A-02D-1421-08 TCGA-A3-3367-11A-01D-1421-08 g.chr1:173950062_173950074delGAGTCATGTTCTC c.842_854delGAGAACATGACTC c.(841-855)cgagaacatgactccfs p.REHDS281fs KIRC 1 173916561 173916561 + Missense_Mutation SNP G G C TCGA-B0-4839-01A-01D-1373-10 TCGA-B0-4839-11A-01D-1373-10 g.chr1:173916561G>C c.2683C>G c.(2683-2685)Cca>Gca p.P895A KIRC 1 173934019 173934019 + Missense_Mutation SNP A A G TCGA-CJ-4912-01A-01D-1429-08 TCGA-CJ-4912-11A-01D-1429-08 g.chr1:173934019A>G c.1574T>C c.(1573-1575)aTa>aCa p.I525T KIRC 1 173950062 173950074 + Frame_Shift_Del DEL GAGTCATGTTCTC GAGTCATGTTCTC - TCGA-A3-3367-01A-02D-1421-08 TCGA-A3-3367-11A-01D-1421-08 g.chr1:173950062_173950074delGAGTCATGTTCTC c.842_854delGAGAACATGACTC c.(841-855)cgagaacatgactccfs p.REHDS281fs KIRP 1 173916659 173916660 + Frame_Shift_Del DEL GT GT - TCGA-G7-6790-01A-11D-1961-08 TCGA-G7-6790-10A-01D-1962-08 g.chr1:173916659_173916660delGT c.2584_2585delAC c.(2584-2586)accfs p.T862fs KIRP 1 173921219 173921219 + Missense_Mutation SNP A A G TCGA-UZ-A9PP-01A-11D-A42J-10 TCGA-UZ-A9PP-10A-01D-A42M-10 g.chr1:173921219A>G c.2428T>C c.(2428-2430)Tac>Cac p.Y810H LGG 1 173930321 173930321 + Missense_Mutation SNP T T A TCGA-FG-A60K-01A-11D-A29Q-08 TCGA-FG-A60K-10A-01D-A29Q-08 g.chr1:173930321T>A c.2264A>T c.(2263-2265)cAt>cTt p.H755L LIHC 1 173934198 173934198 + Missense_Mutation SNP T T A TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr1:173934198T>A c.1395A>T c.(1393-1395)caA>caT p.Q465H LUAD 1 173907935 173907935 + Missense_Mutation SNP A A G TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr1:173907935A>G c.3326T>C c.(3325-3327)cTg>cCg p.L1109P LUAD 1 173910431 173910431 + Missense_Mutation SNP G G A TCGA-97-A4M5-01A-11D-A24P-08 TCGA-97-A4M5-10A-01D-A24P-08 g.chr1:173910431G>A c.3223C>T c.(3223-3225)Ccg>Tcg p.P1075S LUAD 1 173912666 173912666 + Missense_Mutation SNP G G A TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr1:173912666G>A c.3049C>T c.(3049-3051)Cct>Tct p.P1017S LUAD 1 173915621 173915621 + Missense_Mutation SNP C C T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr1:173915621C>T c.2954G>A c.(2953-2955)gGa>gAa p.G985E LUAD 1 173930234 173930234 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr1:173930234G>A c.2351C>T c.(2350-2352)cCt>cTt p.P784L LUAD 1 173930920 173930920 + Silent SNP G G A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr1:173930920G>A c.2145C>T c.(2143-2145)atC>atT p.I715I LUAD 1 173930982 173930982 + Missense_Mutation SNP C C T TCGA-55-7724-01A-11D-2167-08 TCGA-55-7724-10A-01D-2167-08 g.chr1:173930982C>T c.2083G>A c.(2083-2085)Gag>Aag p.E695K LUAD 1 173931080 173931080 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr1:173931080T>A c.1985A>T c.(1984-1986)tAc>tTc p.Y662F LUAD 1 173931109 173931109 + Silent SNP G G A TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 g.chr1:173931109G>A c.1956C>T c.(1954-1956)aaC>aaT p.N652N LUAD 1 173933262 173933262 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr1:173933262C>A c.1680G>T c.(1678-1680)agG>agT p.R560S LUAD 1 173939679 173939679 + Missense_Mutation SNP C C T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr1:173939679C>T c.1298G>A c.(1297-1299)aGc>aAc p.S433N LUAD 1 173941763 173941763 + Missense_Mutation SNP C C A TCGA-MP-A4TC-01A-11D-A24P-08 TCGA-MP-A4TC-10A-01D-A24P-08 g.chr1:173941763C>A c.1105G>T c.(1105-1107)Gct>Tct p.A369S LUAD 1 173947753 173947753 + Missense_Mutation SNP C C A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr1:173947753C>A c.975G>T c.(973-975)caG>caT p.Q325H LUAD 1 173949963 173949963 + Missense_Mutation SNP T T A TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr1:173949963T>A c.953A>T c.(952-954)cAg>cTg p.Q318L LUAD 1 173951987 173951987 + Missense_Mutation SNP C C T TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 g.chr1:173951987C>T c.646G>A c.(646-648)Gct>Act p.A216T LUAD 1 173953758 173953758 + Splice_Site SNP C C A TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr1:173953758C>A c.e3-1 LUSC 1 173907969 173907969 + Missense_Mutation SNP T T A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 g.chr1:173907969T>A c.3292A>T c.(3292-3294)Agc>Tgc p.S1098C LUSC 1 173916691 173916691 + Missense_Mutation SNP C C A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr1:173916691C>A c.2553G>T c.(2551-2553)caG>caT p.Q851H LUSC 1 173930262 173930262 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:173930262G>A c.2323C>T c.(2323-2325)Cct>Tct p.P775S LUSC 1 173930278 173930278 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr1:173930278C>A c.2307G>T c.(2305-2307)aaG>aaT p.K769N LUSC 1 173931144 173931144 + Missense_Mutation SNP G G A TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr1:173931144G>A c.1921C>T c.(1921-1923)Cat>Tat p.H641Y LUSC 1 173931198 173931198 + Missense_Mutation SNP G G A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr1:173931198G>A c.1867C>T c.(1867-1869)Cgc>Tgc p.R623C LUSC 1 173933297 173933297 + Missense_Mutation SNP C C A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 g.chr1:173933297C>A c.1645G>T c.(1645-1647)Gcc>Tcc p.A549S LUSC 1 173962058 173962058 + Silent SNP G G A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 g.chr1:173962058G>A c.66C>T c.(64-66)gaC>gaT p.D22D OV 1 173941647 173941647 + Splice_Site SNP C C T TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 g.chr1:173941647C>T c.1221G>A c.(1219-1221)caG>caA p.Q407Q OV 1 173953671 173953671 + Silent SNP T T C TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 g.chr1:173953671T>C c.318A>G c.(316-318)ttA>ttG p.L106L OV 1 173962001 173962001 + Missense_Mutation SNP G G C TCGA-36-2545-01A-01D-1526-09 TCGA-36-2545-10A-01D-1526-09 g.chr1:173962001G>C c.123C>G c.(121-123)tgC>tgG p.C41W OV 1 173962095 173962095 + Missense_Mutation SNP T T A TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 g.chr1:173962095T>A c.29A>T c.(28-30)gAt>gTt p.D10V PAAD 1 173931058 173931058 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:173931058G>A c.2007C>T c.(2005-2007)caC>caT p.H669H PAAD 1 173947683 173947683 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:173947683T>G c.1045A>C c.(1045-1047)Aac>Cac p.N349H PCPG 1 173950089 173950089 + Missense_Mutation SNP T T C TCGA-QR-A700-01A-11D-A35D-08 TCGA-QR-A700-10A-01D-A35B-08 g.chr1:173950089T>C c.827A>G c.(826-828)tAt>tGt p.Y276C PRAD 1 173910517 173910517 + Splice_Site SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:173910517T>C c.3137A>G c.(3136-3138)gAa>gGa p.E1046G PRAD 1 173941766 173941767 + Splice_Site INS - - TA TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 g.chr1:173941766_173941767insTA c.e8-1 SKCM 1 173915704 173915704 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:173915704G>A c.2871C>T c.(2869-2871)ccC>ccT p.P957P SKCM 1 173933295 173933295 + Silent SNP G G C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr1:173933295G>C c.1647C>G c.(1645-1647)gcC>gcG p.A549A SKCM 1 173934254 173934254 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:173934254G>A c.1339C>T c.(1339-1341)Cgt>Tgt p.R447C SKCM 1 173939703 173939703 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr1:173939703C>T c.1274G>A c.(1273-1275)aGa>aAa p.R425K SKCM 1 173949997 173949997 + Missense_Mutation SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr1:173949997G>A c.919C>T c.(919-921)Ctt>Ttt p.L307F SKCM 1 173951933 173951933 + Missense_Mutation SNP A A G TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr1:173951933A>G c.700T>C c.(700-702)Ttt>Ctt p.F234L SKCM 1 173952619 173952619 + Missense_Mutation SNP G G C TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr1:173952619G>C c.529C>G c.(529-531)Cag>Gag p.Q177E SKCM 1 173952757 173952757 + Missense_Mutation SNP G G C TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr1:173952757G>C c.391C>G c.(391-393)Cgc>Ggc p.R131G SKCM 1 173953695 173953695 + Missense_Mutation SNP T T G TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr1:173953695T>G c.294A>C c.(292-294)gaA>gaC p.E98D SKCM 1 173962102 173962102 + Missense_Mutation SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr1:173962102A>G c.22T>C c.(22-24)Tgg>Cgg p.W8R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 173908000 173908000 single base substitution T A exon_variant BLCA-CN 1 173908000 173908000 single base substitution T A synonymous_variant P1079P 3237A>T BLCA-CN 1 173908000 173908000 single base substitution T A synonymous_variant P1087P 3261A>T BLCA-CN 1 173921259 173921259 single base substitution C T synonymous_variant L796L 2388G>A BLCA-CN 1 173951980 173951980 single base substitution G C exon_variant BLCA-CN 1 173951980 173951980 single base substitution G C stop_gained S218* 653C>G BLCA-US 1 173907942 173907942 single base substitution G C exon_variant BLCA-US 1 173907942 173907942 single base substitution G C missense_variant L1099V 3295C>G BLCA-US 1 173907942 173907942 single base substitution G C missense_variant L1107V 3319C>G BLCA-US 1 173916585 173916585 single base substitution T A stop_gained K887* 2659A>T BLCA-US 1 173916678 173916678 single base substitution G A stop_gained Q856* 2566C>T BLCA-US 1 173930937 173930937 single base substitution C G exon_variant BLCA-US 1 173930937 173930937 single base substitution C G missense_variant E710Q 2128G>C BLCA-US 1 173952637 173952637 single base substitution G C missense_variant L171V 511C>G BLCA-US 1 173952637 173952637 single base substitution G C upstream_gene_variant BLCA-US 1 173953689 173953689 single base substitution C T synonymous_variant K100K 300G>A BLCA-US 1 173953689 173953689 single base substitution C T upstream_gene_variant BRCA-EU 1 173895548 173895548 single base substitution A C downstream_gene_variant BRCA-EU 1 173895951 173895951 single base substitution G T downstream_gene_variant BRCA-EU 1 173896266 173896266 single base substitution G A downstream_gene_variant BRCA-EU 1 173896289 173896289 single base substitution G C downstream_gene_variant BRCA-EU 1 173896294 173896294 single base substitution G A downstream_gene_variant BRCA-EU 1 173896798 173896798 single base substitution G A downstream_gene_variant BRCA-EU 1 173896831 173896831 deletion of <=200bp C - downstream_gene_variant BRCA-EU 1 173897356 173897356 single base substitution C A downstream_gene_variant BRCA-EU 1 173898399 173898399 single base substitution T C downstream_gene_variant BRCA-EU 1 173899085 173899085 single base substitution G A downstream_gene_variant BRCA-EU 1 173899217 173899217 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 173899619 173899619 single base substitution A G downstream_gene_variant BRCA-EU 1 173899708 173899708 single base substitution T C downstream_gene_variant BRCA-EU 1 173900081 173900081 single base substitution G A downstream_gene_variant BRCA-EU 1 173900841 173900841 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 173903961 173903961 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 173903961 173903961 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 173904148 173904148 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 173904148 173904148 single base substitution A G downstream_gene_variant BRCA-EU 1 173905349 173905349 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 173905349 173905349 single base substitution T A downstream_gene_variant BRCA-EU 1 173906727 173906727 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 173906727 173906727 single base substitution C G downstream_gene_variant BRCA-EU 1 173906880 173906880 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 173906880 173906880 single base substitution C G downstream_gene_variant BRCA-EU 1 173907906 173907906 single base substitution T G exon_variant BRCA-EU 1 173907906 173907906 single base substitution T G missense_variant N1111H 3331A>C BRCA-EU 1 173907906 173907906 single base substitution T G missense_variant N1119H 3355A>C BRCA-EU 1 173908198 173908198 single base substitution T C intron_variant BRCA-EU 1 173908829 173908829 single base substitution C T intron_variant BRCA-EU 1 173911999 173911999 deletion of <=200bp A - intron_variant BRCA-EU 1 173911999 173911999 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 173912918 173912918 deletion of <=200bp A - intron_variant BRCA-EU 1 173912918 173912918 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 173914040 173914040 deletion of <=200bp T - intron_variant BRCA-EU 1 173914040 173914040 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 173914527 173914527 single base substitution G A intron_variant BRCA-EU 1 173914527 173914527 single base substitution G A upstream_gene_variant BRCA-EU 1 173915275 173915275 single base substitution C G intron_variant BRCA-EU 1 173915275 173915275 single base substitution C G upstream_gene_variant BRCA-EU 1 173915935 173915935 single base substitution G C missense_variant S926C 2777C>G BRCA-EU 1 173916063 173916063 single base substitution A C intron_variant BRCA-EU 1 173916917 173916917 single base substitution G A intron_variant BRCA-EU 1 173917441 173917441 single base substitution A C intron_variant BRCA-EU 1 173917900 173917900 single base substitution T A intron_variant BRCA-EU 1 173918274 173918274 single base substitution G T intron_variant BRCA-EU 1 173918573 173918573 single base substitution C T intron_variant BRCA-EU 1 173919306 173919306 deletion of <=200bp A - intron_variant BRCA-EU 1 173919691 173919691 single base substitution T C intron_variant BRCA-EU 1 173920011 173920011 insertion of <=200bp - T intron_variant BRCA-EU 1 173920041 173920041 single base substitution G A intron_variant BRCA-EU 1 173920233 173920233 single base substitution C T intron_variant BRCA-EU 1 173920676 173920676 single base substitution A G intron_variant BRCA-EU 1 173920684 173920684 single base substitution A T intron_variant BRCA-EU 1 173922517 173922517 single base substitution C T intron_variant BRCA-EU 1 173922762 173922762 single base substitution G C intron_variant BRCA-EU 1 173922855 173922855 single base substitution G C intron_variant BRCA-EU 1 173923229 173923229 single base substitution T G intron_variant BRCA-EU 1 173923815 173923815 single base substitution C G intron_variant BRCA-EU 1 173924233 173924233 single base substitution G A intron_variant BRCA-EU 1 173924257 173924257 single base substitution G A intron_variant BRCA-EU 1 173926116 173926116 single base substitution A G downstream_gene_variant BRCA-EU 1 173926116 173926116 single base substitution A G intron_variant BRCA-EU 1 173926443 173926443 single base substitution T C downstream_gene_variant BRCA-EU 1 173926443 173926443 single base substitution T C intron_variant BRCA-EU 1 173927326 173927326 single base substitution A C downstream_gene_variant BRCA-EU 1 173927326 173927326 single base substitution A C intron_variant BRCA-EU 1 173927448 173927448 single base substitution A T downstream_gene_variant BRCA-EU 1 173927448 173927448 single base substitution A T intron_variant BRCA-EU 1 173927809 173927809 single base substitution G C downstream_gene_variant BRCA-EU 1 173927809 173927809 single base substitution G C intron_variant BRCA-EU 1 173928097 173928097 single base substitution G C downstream_gene_variant BRCA-EU 1 173928097 173928097 single base substitution G C intron_variant BRCA-EU 1 173929028 173929028 single base substitution G T downstream_gene_variant BRCA-EU 1 173929028 173929028 single base substitution G T intron_variant BRCA-EU 1 173930183 173930183 single base substitution C G exon_variant BRCA-EU 1 173930183 173930183 single base substitution C G intron_variant BRCA-EU 1 173930844 173930844 deletion of <=200bp A - intron_variant BRCA-EU 1 173930939 173930939 single base substitution C G exon_variant BRCA-EU 1 173930939 173930939 single base substitution C G missense_variant R709T 2126G>C BRCA-EU 1 173931667 173931667 single base substitution G T intron_variant BRCA-EU 1 173931667 173931667 single base substitution G T upstream_gene_variant BRCA-EU 1 173932023 173932023 single base substitution G C intron_variant BRCA-EU 1 173932023 173932023 single base substitution G C upstream_gene_variant BRCA-EU 1 173933053 173933053 single base substitution G A intron_variant BRCA-EU 1 173933053 173933053 single base substitution G A upstream_gene_variant BRCA-EU 1 173934666 173934666 single base substitution T C intron_variant BRCA-EU 1 173934666 173934666 single base substitution T C upstream_gene_variant BRCA-EU 1 173935186 173935186 single base substitution G A intron_variant BRCA-EU 1 173935186 173935186 single base substitution G A upstream_gene_variant BRCA-EU 1 173935930 173935930 single base substitution C G intron_variant BRCA-EU 1 173935930 173935930 single base substitution C G upstream_gene_variant BRCA-EU 1 173936154 173936154 deletion of <=200bp T - intron_variant BRCA-EU 1 173936186 173936186 single base substitution A C intron_variant BRCA-EU 1 173936673 173936673 single base substitution C A intron_variant BRCA-EU 1 173936859 173936859 single base substitution T A intron_variant BRCA-EU 1 173937036 173937036 single base substitution T C intron_variant BRCA-EU 1 173937093 173937093 single base substitution C G intron_variant BRCA-EU 1 173939150 173939173 deletion of <=200bp AAGAAACTGCTTTTCATTTTTAAA - intron_variant BRCA-EU 1 173939894 173939894 single base substitution G C intron_variant BRCA-EU 1 173939998 173939998 single base substitution T A intron_variant BRCA-EU 1 173940848 173940848 single base substitution T C intron_variant BRCA-EU 1 173941204 173941204 single base substitution T C intron_variant BRCA-EU 1 173941340 173941340 single base substitution G T intron_variant BRCA-EU 1 173942762 173942762 single base substitution G A intron_variant BRCA-EU 1 173943889 173943889 single base substitution T G intron_variant BRCA-EU 1 173945341 173945341 single base substitution G T downstream_gene_variant BRCA-EU 1 173945341 173945341 single base substitution G T intron_variant BRCA-EU 1 173945888 173945888 single base substitution T G downstream_gene_variant BRCA-EU 1 173945888 173945888 single base substitution T G intron_variant BRCA-EU 1 173946856 173946856 single base substitution G C downstream_gene_variant BRCA-EU 1 173946856 173946856 single base substitution G C intron_variant BRCA-EU 1 173947530 173947530 single base substitution G C downstream_gene_variant BRCA-EU 1 173947530 173947530 single base substitution G C intron_variant BRCA-EU 1 173947725 173947725 single base substitution G A downstream_gene_variant BRCA-EU 1 173947725 173947725 single base substitution G A stop_gained Q335* 1003C>T BRCA-EU 1 173949604 173949604 single base substitution A G downstream_gene_variant BRCA-EU 1 173949604 173949604 single base substitution A G intron_variant BRCA-EU 1 173950069 173950069 single base substitution G T downstream_gene_variant BRCA-EU 1 173950069 173950069 single base substitution G T missense_variant H283N 847C>A BRCA-EU 1 173952761 173952761 single base substitution C T synonymous_variant L129L 387G>A BRCA-EU 1 173952761 173952761 single base substitution C T upstream_gene_variant BRCA-EU 1 173954603 173954603 deletion of <=200bp T - intron_variant BRCA-EU 1 173954603 173954603 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 173954761 173954761 deletion of <=200bp T - intron_variant BRCA-EU 1 173954761 173954761 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 173955231 173955231 single base substitution C A intron_variant BRCA-EU 1 173955231 173955231 single base substitution C A upstream_gene_variant BRCA-EU 1 173958092 173958092 single base substitution A G intron_variant BRCA-EU 1 173958307 173958353 multiple base substitution (>=2bp and <=200bp) AATACAGGCATGTGCCATCACACCCAGCAATTTTTTGTTGTTGTTGT ACTATAAGCATGTGCCACCACACCCAGCAAAAAATTTTTTTTTG intron_variant BRCA-EU 1 173958336 173958353 multiple base substitution (>=2bp and <=200bp) ATTTTTTGTTGTTGTTGT AAAAATTTTTTTTTG intron_variant BRCA-EU 1 173959412 173959412 single base substitution C A intron_variant BRCA-EU 1 173960152 173960152 single base substitution G A intron_variant BRCA-EU 1 173960278 173960278 single base substitution G C intron_variant BRCA-EU 1 173961207 173961207 single base substitution C G intron_variant BRCA-EU 1 173961381 173961381 single base substitution C T intron_variant BRCA-EU 1 173964683 173964683 insertion of <=200bp - G intron_variant BRCA-EU 1 173964683 173964683 insertion of <=200bp - G upstream_gene_variant BRCA-EU 1 173965647 173965647 deletion of <=200bp T - intron_variant BRCA-EU 1 173965647 173965647 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 173965817 173965817 single base substitution G A intron_variant BRCA-EU 1 173965817 173965817 single base substitution G A upstream_gene_variant BRCA-EU 1 173965826 173965826 single base substitution G C intron_variant BRCA-EU 1 173965826 173965826 single base substitution G C upstream_gene_variant BRCA-EU 1 173966005 173966005 single base substitution T G intron_variant BRCA-EU 1 173966005 173966005 single base substitution T G upstream_gene_variant BRCA-EU 1 173967328 173967328 single base substitution C A intron_variant BRCA-EU 1 173967675 173967675 single base substitution T G intron_variant BRCA-EU 1 173969604 173969604 single base substitution C T intron_variant BRCA-EU 1 173970252 173970252 single base substitution G C intron_variant BRCA-EU 1 173971188 173971188 deletion of <=200bp G - intron_variant BRCA-EU 1 173973385 173973385 single base substitution G T intron_variant BRCA-EU 1 173974052 173974052 single base substitution A G intron_variant BRCA-EU 1 173974053 173974053 insertion of <=200bp - G intron_variant BRCA-EU 1 173974696 173974696 deletion of <=200bp T - intron_variant BRCA-EU 1 173976015 173976015 single base substitution G A intron_variant BRCA-EU 1 173977034 173977034 single base substitution G C intron_variant BRCA-EU 1 173977251 173977251 single base substitution T A intron_variant BRCA-EU 1 173977940 173977940 single base substitution C T intron_variant BRCA-EU 1 173979762 173979762 single base substitution G T intron_variant BRCA-EU 1 173980228 173980228 single base substitution T C intron_variant BRCA-EU 1 173980715 173980715 single base substitution G T intron_variant BRCA-EU 1 173980939 173980939 single base substitution G C intron_variant BRCA-EU 1 173981670 173981670 single base substitution C A intron_variant BRCA-EU 1 173982573 173982573 single base substitution A G intron_variant BRCA-EU 1 173982594 173982594 single base substitution T A intron_variant BRCA-EU 1 173983645 173983645 single base substitution C A intron_variant BRCA-EU 1 173984260 173984260 single base substitution T C intron_variant BRCA-EU 1 173984520 173984520 single base substitution G C intron_variant BRCA-EU 1 173984619 173984619 single base substitution C G intron_variant BRCA-EU 1 173984670 173984670 insertion of <=200bp - T intron_variant BRCA-EU 1 173986283 173986283 single base substitution A G intron_variant BRCA-EU 1 173987199 173987199 insertion of <=200bp - A intron_variant BRCA-EU 1 173987931 173987931 single base substitution A T intron_variant BRCA-EU 1 173988274 173988274 single base substitution G A intron_variant BRCA-EU 1 173988471 173988471 single base substitution G C intron_variant BRCA-EU 1 173990519 173990519 single base substitution G T intron_variant BRCA-EU 1 173991690 173991690 single base substitution C T upstream_gene_variant BRCA-EU 1 173991983 173991983 single base substitution G A upstream_gene_variant BRCA-EU 1 173992994 173992994 single base substitution T C upstream_gene_variant BRCA-EU 1 173993008 173993008 single base substitution T C upstream_gene_variant BRCA-EU 1 173993454 173993454 single base substitution G C upstream_gene_variant BRCA-EU 1 173993692 173993692 single base substitution G A upstream_gene_variant BRCA-EU 1 173994488 173994488 single base substitution T A upstream_gene_variant BRCA-EU 1 173994691 173994691 deletion of <=200bp A - upstream_gene_variant BRCA-FR 1 173900841 173900841 single base substitution C G 3_prime_UTR_variant BRCA-FR 1 173904148 173904148 single base substitution A G 3_prime_UTR_variant BRCA-FR 1 173904148 173904148 single base substitution A G downstream_gene_variant BRCA-FR 1 173917900 173917900 single base substitution T A intron_variant BRCA-FR 1 173918274 173918274 single base substitution G T intron_variant BRCA-FR 1 173919691 173919691 single base substitution T C intron_variant BRCA-FR 1 173928097 173928097 single base substitution G C downstream_gene_variant BRCA-FR 1 173928097 173928097 single base substitution G C intron_variant BRCA-FR 1 173930183 173930183 single base substitution C G exon_variant BRCA-FR 1 173930183 173930183 single base substitution C G intron_variant BRCA-FR 1 173932944 173932944 single base substitution C A intron_variant BRCA-FR 1 173932944 173932944 single base substitution C A upstream_gene_variant BRCA-FR 1 173933053 173933053 single base substitution G A intron_variant BRCA-FR 1 173933053 173933053 single base substitution G A upstream_gene_variant BRCA-FR 1 173933818 173933818 single base substitution C G intron_variant BRCA-FR 1 173933818 173933818 single base substitution C G upstream_gene_variant BRCA-FR 1 173940848 173940848 single base substitution T C intron_variant BRCA-FR 1 173943889 173943889 single base substitution T G intron_variant BRCA-FR 1 173943963 173943963 single base substitution A T intron_variant BRCA-FR 1 173952761 173952761 single base substitution C T synonymous_variant L129L 387G>A BRCA-FR 1 173952761 173952761 single base substitution C T upstream_gene_variant BRCA-FR 1 173959412 173959412 single base substitution C A intron_variant BRCA-FR 1 173960152 173960152 single base substitution G A intron_variant BRCA-FR 1 173960278 173960278 single base substitution G C intron_variant BRCA-FR 1 173962228 173962228 single base substitution T A 5_prime_UTR_variant BRCA-FR 1 173962228 173962228 single base substitution T A upstream_gene_variant BRCA-FR 1 173965826 173965826 single base substitution G C intron_variant BRCA-FR 1 173965826 173965826 single base substitution G C upstream_gene_variant BRCA-FR 1 173973385 173973385 single base substitution G T intron_variant BRCA-FR 1 173984108 173984108 single base substitution T C intron_variant BRCA-FR 1 173984520 173984520 single base substitution G C intron_variant BRCA-FR 1 173988471 173988471 single base substitution G C intron_variant BRCA-FR 1 173994488 173994488 single base substitution T A upstream_gene_variant BRCA-UK 1 173899085 173899085 single base substitution G A downstream_gene_variant BRCA-UK 1 173930939 173930939 single base substitution C G exon_variant BRCA-UK 1 173930939 173930939 single base substitution C G missense_variant R709T 2126G>C BRCA-UK 1 173958769 173958769 single base substitution C G intron_variant BRCA-UK 1 173982687 173982687 single base substitution C T intron_variant BRCA-UK 1 173983246 173983246 single base substitution G A intron_variant BRCA-UK 1 173990958 173990958 single base substitution G C intron_variant BRCA-US 1 173916576 173916576 single base substitution A G missense_variant Y890H 2668T>C BRCA-US 1 173916616 173916616 single base substitution C G synonymous_variant V876V 2628G>C BRCA-US 1 173930909 173930909 single base substitution T C exon_variant BRCA-US 1 173930909 173930909 single base substitution T C missense_variant Y719C 2156A>G BRCA-US 1 173930982 173930982 single base substitution C T missense_variant E695K 2083G>A BRCA-US 1 173930982 173930982 single base substitution C T upstream_gene_variant BRCA-US 1 173939653 173939653 single base substitution C T missense_variant E442K 1324G>A BRCA-US 1 173952756 173952756 single base substitution C T missense_variant R131H 392G>A BRCA-US 1 173952756 173952756 single base substitution C T upstream_gene_variant BRCA-US 1 173962098 173962098 single base substitution G T missense_variant T9K 26C>A BTCA-JP 1 173930368 173930368 single base substitution G A exon_variant BTCA-JP 1 173930368 173930368 single base substitution G A synonymous_variant S739S 2217C>T BTCA-JP 1 173941706 173941706 single base substitution C T missense_variant V388I 1162G>A BTCA-JP 1 173961835 173961835 single base substitution C G intron_variant BTCA-JP 1 173961839 173961839 single base substitution G C intron_variant BTCA-JP 1 173962217 173962217 deletion of <=200bp T - 5_prime_UTR_variant BTCA-JP 1 173962217 173962217 deletion of <=200bp T - upstream_gene_variant CESC-US 1 173915654 173915654 single base substitution T A missense_variant N974I 2921A>T CESC-US 1 173961967 173961967 single base substitution C G missense_variant D53H 157G>C CLLE-ES 1 173910016 173910016 single base substitution G A intron_variant CLLE-ES 1 173920470 173920470 single base substitution A C intron_variant CLLE-ES 1 173921408 173921408 single base substitution T A intron_variant CLLE-ES 1 173939584 173939584 single base substitution A T intron_variant CLLE-ES 1 173947868 173947868 single base substitution C T downstream_gene_variant CLLE-ES 1 173947868 173947868 single base substitution C T intron_variant CLLE-ES 1 173950526 173950526 single base substitution G C intron_variant CLLE-ES 1 173951959 173951959 single base substitution A G exon_variant CLLE-ES 1 173951959 173951959 single base substitution A G missense_variant F225S 674T>C CLLE-ES 1 173954088 173954088 single base substitution A G intron_variant CLLE-ES 1 173954088 173954088 single base substitution A G upstream_gene_variant CLLE-ES 1 173971715 173971715 single base substitution T A intron_variant COAD-US 1 173915731 173915731 single base substitution C T missense_variant M948I 2844G>A COAD-US 1 173916541 173916541 single base substitution A G synonymous_variant P901P 2703T>C COAD-US 1 173930350 173930350 single base substitution G A exon_variant COAD-US 1 173930350 173930350 single base substitution G A synonymous_variant P745P 2235C>T COAD-US 1 173950025 173950025 single base substitution T G downstream_gene_variant COAD-US 1 173950025 173950025 single base substitution T G synonymous_variant R297R 891A>C COAD-US 1 173950102 173950102 single base substitution C A exon_variant COAD-US 1 173950102 173950102 single base substitution C A stop_gained E272* 814G>T COAD-US 1 173952711 173952711 single base substitution A G missense_variant V146A 437T>C COAD-US 1 173952711 173952711 single base substitution A G upstream_gene_variant COAD-US 1 173962058 173962058 single base substitution G A synonymous_variant D22D 66C>T COCA-CN 1 173921301 173921301 single base substitution C A intron_variant COCA-CN 1 173921322 173921322 single base substitution G T intron_variant COCA-CN 1 173934002 173934002 single base substitution T C missense_variant S531G 1591A>G COCA-CN 1 173934002 173934002 single base substitution T C upstream_gene_variant COCA-CN 1 173939689 173939689 single base substitution G A missense_variant R430C 1288C>T COCA-CN 1 173947616 173947616 single base substitution G A downstream_gene_variant COCA-CN 1 173947616 173947616 single base substitution G A intron_variant COCA-CN 1 173950205 173950205 single base substitution T C intron_variant COCA-CN 1 173952561 173952561 single base substitution C T missense_variant G196E 587G>A COCA-CN 1 173952561 173952561 single base substitution C T upstream_gene_variant COCA-CN 1 173961835 173961835 single base substitution C G intron_variant COCA-CN 1 173961841 173961841 single base substitution G C intron_variant EOPC-DE 1 173910887 173910887 single base substitution T A intron_variant EOPC-DE 1 173910887 173910887 single base substitution T A upstream_gene_variant ESAD-UK 1 173897354 173897354 single base substitution A T downstream_gene_variant ESAD-UK 1 173898172 173898172 single base substitution G C downstream_gene_variant ESAD-UK 1 173898477 173898477 single base substitution A T downstream_gene_variant ESAD-UK 1 173898523 173898523 single base substitution C T downstream_gene_variant ESAD-UK 1 173899821 173899821 single base substitution T G downstream_gene_variant ESAD-UK 1 173901399 173901399 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 173903810 173903810 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 173903810 173903810 single base substitution T C downstream_gene_variant ESAD-UK 1 173905090 173905090 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 1 173905090 173905090 deletion of <=200bp T - downstream_gene_variant ESAD-UK 1 173905567 173905567 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 173905567 173905567 single base substitution G A downstream_gene_variant ESAD-UK 1 173906132 173906132 single base substitution T A 3_prime_UTR_variant ESAD-UK 1 173906132 173906132 single base substitution T A downstream_gene_variant ESAD-UK 1 173907469 173907469 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 173907469 173907469 single base substitution T C downstream_gene_variant ESAD-UK 1 173908000 173908000 single base substitution T G exon_variant ESAD-UK 1 173908000 173908000 single base substitution T G synonymous_variant P1079P 3237A>C ESAD-UK 1 173908000 173908000 single base substitution T G synonymous_variant P1087P 3261A>C ESAD-UK 1 173908202 173908202 single base substitution G A intron_variant ESAD-UK 1 173908354 173908354 single base substitution G A intron_variant ESAD-UK 1 173909272 173909272 single base substitution G C intron_variant ESAD-UK 1 173910193 173910193 single base substitution C T intron_variant ESAD-UK 1 173911639 173911639 deletion of <=200bp A - intron_variant ESAD-UK 1 173911639 173911639 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 173913881 173913881 single base substitution G T intron_variant ESAD-UK 1 173913881 173913881 single base substitution G T upstream_gene_variant ESAD-UK 1 173914531 173914531 single base substitution T C intron_variant ESAD-UK 1 173914531 173914531 single base substitution T C upstream_gene_variant ESAD-UK 1 173917550 173917551 deletion of <=200bp AT - intron_variant ESAD-UK 1 173917900 173917900 single base substitution T A intron_variant ESAD-UK 1 173918687 173918687 single base substitution A G intron_variant ESAD-UK 1 173919837 173919837 single base substitution T C intron_variant ESAD-UK 1 173920018 173920018 single base substitution A T intron_variant ESAD-UK 1 173920469 173920469 single base substitution C A intron_variant ESAD-UK 1 173922340 173922340 deletion of <=200bp T - intron_variant ESAD-UK 1 173922421 173922421 deletion of <=200bp T - intron_variant ESAD-UK 1 173922966 173922966 single base substitution C T intron_variant ESAD-UK 1 173923178 173923178 insertion of <=200bp - AAT intron_variant ESAD-UK 1 173926771 173926771 single base substitution C T downstream_gene_variant ESAD-UK 1 173926771 173926771 single base substitution C T intron_variant ESAD-UK 1 173928444 173928444 single base substitution A T downstream_gene_variant ESAD-UK 1 173928444 173928444 single base substitution A T intron_variant ESAD-UK 1 173929435 173929435 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 173929435 173929435 insertion of <=200bp - T intron_variant ESAD-UK 1 173929567 173929567 single base substitution T C downstream_gene_variant ESAD-UK 1 173929567 173929567 single base substitution T C intron_variant ESAD-UK 1 173930085 173930085 single base substitution A C downstream_gene_variant ESAD-UK 1 173930085 173930085 single base substitution A C intron_variant ESAD-UK 1 173930117 173930117 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 173930117 173930117 deletion of <=200bp A - intron_variant ESAD-UK 1 173930164 173930164 single base substitution G A downstream_gene_variant ESAD-UK 1 173930164 173930164 single base substitution G A intron_variant ESAD-UK 1 173931423 173931423 single base substitution T A intron_variant ESAD-UK 1 173931423 173931423 single base substitution T A upstream_gene_variant ESAD-UK 1 173934527 173934527 single base substitution G A intron_variant ESAD-UK 1 173934527 173934527 single base substitution G A upstream_gene_variant ESAD-UK 1 173935655 173935655 single base substitution C A intron_variant ESAD-UK 1 173935655 173935655 single base substitution C A upstream_gene_variant ESAD-UK 1 173936230 173936230 single base substitution T G intron_variant ESAD-UK 1 173936603 173936603 single base substitution A T intron_variant ESAD-UK 1 173938260 173938260 single base substitution G T intron_variant ESAD-UK 1 173940591 173940591 single base substitution C T intron_variant ESAD-UK 1 173940691 173940691 single base substitution T A intron_variant ESAD-UK 1 173942663 173942663 single base substitution A G intron_variant ESAD-UK 1 173944642 173944642 deletion of <=200bp A - intron_variant ESAD-UK 1 173945498 173945498 single base substitution G A downstream_gene_variant ESAD-UK 1 173945498 173945498 single base substitution G A intron_variant ESAD-UK 1 173945512 173945512 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 173945512 173945512 insertion of <=200bp - T intron_variant ESAD-UK 1 173945984 173945984 single base substitution G A downstream_gene_variant ESAD-UK 1 173945984 173945984 single base substitution G A intron_variant ESAD-UK 1 173951052 173951052 deletion of <=200bp G - intron_variant ESAD-UK 1 173951671 173951671 single base substitution G C intron_variant ESAD-UK 1 173955150 173955150 single base substitution T G intron_variant ESAD-UK 1 173955150 173955150 single base substitution T G upstream_gene_variant ESAD-UK 1 173955157 173955157 insertion of <=200bp - ATC intron_variant ESAD-UK 1 173955157 173955157 insertion of <=200bp - ATC upstream_gene_variant ESAD-UK 1 173955320 173955320 single base substitution C T intron_variant ESAD-UK 1 173955320 173955320 single base substitution C T upstream_gene_variant ESAD-UK 1 173955490 173955490 single base substitution T A intron_variant ESAD-UK 1 173955490 173955490 single base substitution T A upstream_gene_variant ESAD-UK 1 173955994 173955994 single base substitution G A intron_variant ESAD-UK 1 173955994 173955994 single base substitution G A upstream_gene_variant ESAD-UK 1 173956039 173956066 deletion of <=200bp TTCTCAGACTTTCCTTGTTTTAATGACC - intron_variant ESAD-UK 1 173956039 173956066 deletion of <=200bp TTCTCAGACTTTCCTTGTTTTAATGACC - upstream_gene_variant ESAD-UK 1 173956258 173956258 single base substitution A C intron_variant ESAD-UK 1 173956258 173956258 single base substitution A C upstream_gene_variant ESAD-UK 1 173959603 173959603 single base substitution G A intron_variant ESAD-UK 1 173959604 173959604 single base substitution C G intron_variant ESAD-UK 1 173959720 173959720 single base substitution T A intron_variant ESAD-UK 1 173960201 173960201 single base substitution C G intron_variant ESAD-UK 1 173961903 173961903 single base substitution A G missense_variant V74A 221T>C ESAD-UK 1 173962982 173962982 single base substitution A C intron_variant ESAD-UK 1 173962982 173962982 single base substitution A C upstream_gene_variant ESAD-UK 1 173963886 173963886 single base substitution G A intron_variant ESAD-UK 1 173963886 173963886 single base substitution G A upstream_gene_variant ESAD-UK 1 173965127 173965127 single base substitution C A intron_variant ESAD-UK 1 173965127 173965127 single base substitution C A upstream_gene_variant ESAD-UK 1 173965302 173965302 single base substitution G T intron_variant ESAD-UK 1 173965302 173965302 single base substitution G T upstream_gene_variant ESAD-UK 1 173966524 173966524 single base substitution A T intron_variant ESAD-UK 1 173966524 173966524 single base substitution A T upstream_gene_variant ESAD-UK 1 173966527 173966527 single base substitution A G intron_variant ESAD-UK 1 173966527 173966527 single base substitution A G upstream_gene_variant ESAD-UK 1 173969314 173969314 single base substitution T C intron_variant ESAD-UK 1 173969768 173969768 single base substitution G A intron_variant ESAD-UK 1 173970034 173970034 single base substitution G C intron_variant ESAD-UK 1 173971905 173971905 single base substitution C A intron_variant ESAD-UK 1 173972958 173972958 single base substitution C T intron_variant ESAD-UK 1 173978848 173978848 single base substitution C T intron_variant ESAD-UK 1 173982543 173982543 single base substitution A C intron_variant ESAD-UK 1 173989336 173989336 insertion of <=200bp - A intron_variant ESAD-UK 1 173989402 173989402 single base substitution T A intron_variant ESAD-UK 1 173989540 173989540 single base substitution G C intron_variant ESAD-UK 1 173990270 173990270 single base substitution C T intron_variant ESAD-UK 1 173991694 173991694 single base substitution G T upstream_gene_variant ESAD-UK 1 173994488 173994488 single base substitution T A upstream_gene_variant ESAD-UK 1 173994651 173994651 single base substitution A G upstream_gene_variant ESAD-UK 1 173995260 173995260 single base substitution G A upstream_gene_variant ESAD-UK 1 173995388 173995388 single base substitution C G upstream_gene_variant ESAD-UK 1 173996195 173996195 single base substitution C A upstream_gene_variant ESCA-CN 1 173921288 173921288 single base substitution G A intron_variant ESCA-CN 1 173950049 173950049 single base substitution C G downstream_gene_variant ESCA-CN 1 173950049 173950049 single base substitution C G missense_variant Q289H 867G>C ESCA-CN 1 173950205 173950205 single base substitution T C intron_variant KIRC-US 1 173916561 173916561 single base substitution G C missense_variant P895A 2683C>G KIRC-US 1 173934019 173934019 single base substitution A G missense_variant I525T 1574T>C KIRC-US 1 173934019 173934019 single base substitution A G upstream_gene_variant KIRC-US 1 173950062 173950074 deletion of <=200bp GAGTCATGTTCTC - downstream_gene_variant KIRC-US 1 173950062 173950074 deletion of <=200bp GAGTCATGTTCTC - frameshift_variant REHDS281 KIRP-US 1 173916659 173916660 deletion of <=200bp GT - frameshift_variant T862 LAML-KR 1 173910887 173910887 single base substitution T A intron_variant LAML-KR 1 173910887 173910887 single base substitution T A upstream_gene_variant LAML-KR 1 173921292 173921292 single base substitution G A intron_variant LAML-KR 1 173953860 173953860 single base substitution G C intron_variant LAML-KR 1 173953860 173953860 single base substitution G C upstream_gene_variant LAML-KR 1 173958876 173958876 single base substitution G T intron_variant LAML-KR 1 173961839 173961839 single base substitution G C intron_variant LAML-KR 1 173993708 173993708 single base substitution C T upstream_gene_variant LGG-US 1 173930321 173930321 single base substitution T A exon_variant LGG-US 1 173930321 173930321 single base substitution T A missense_variant H755L 2264A>T LICA-CN 1 173934200 173934200 single base substitution G A stop_gained Q465* 1393C>T LICA-CN 1 173934200 173934200 single base substitution G A upstream_gene_variant LICA-FR 1 173916807 173916807 single base substitution A G intron_variant LICA-FR 1 173930907 173930907 single base substitution G C exon_variant LICA-FR 1 173930907 173930907 single base substitution G C missense_variant P720A 2158C>G LICA-FR 1 173931174 173931174 single base substitution C T missense_variant A631T 1891G>A LICA-FR 1 173931174 173931174 single base substitution C T upstream_gene_variant LICA-FR 1 173958347 173958347 single base substitution T C intron_variant LICA-FR 1 173964715 173964715 single base substitution C T intron_variant LICA-FR 1 173964715 173964715 single base substitution C T upstream_gene_variant LICA-FR 1 173971567 173971567 single base substitution T C intron_variant LICA-FR 1 173986922 173986928 deletion of <=200bp AAAAAAA - intron_variant LICA-FR 1 173990629 173990629 insertion of <=200bp - T intron_variant LICA-FR 1 173995957 173995957 deletion of <=200bp T - upstream_gene_variant LIHC-US 1 173912722 173912722 single base substitution T C missense_variant E989G 2966A>G LIHC-US 1 173912722 173912722 single base substitution T C missense_variant E998G 2993A>G LIHC-US 1 173912722 173912722 single base substitution T C upstream_gene_variant LINC-JP 1 173908015 173908015 single base substitution G A intron_variant LINC-JP 1 173918075 173918075 single base substitution T C intron_variant LINC-JP 1 173921292 173921292 single base substitution G A intron_variant LINC-JP 1 173921301 173921301 single base substitution C A intron_variant LINC-JP 1 173927147 173927147 single base substitution T C downstream_gene_variant LINC-JP 1 173927147 173927147 single base substitution T C intron_variant LINC-JP 1 173932948 173932948 single base substitution G C intron_variant LINC-JP 1 173932948 173932948 single base substitution G C upstream_gene_variant LINC-JP 1 173949905 173949905 single base substitution G T downstream_gene_variant LINC-JP 1 173949905 173949905 single base substitution G T intron_variant LINC-JP 1 173961841 173961841 single base substitution G C intron_variant LINC-JP 1 173963255 173963255 single base substitution C T intron_variant LINC-JP 1 173963255 173963255 single base substitution C T upstream_gene_variant LINC-JP 1 173969082 173969082 single base substitution C G intron_variant LINC-JP 1 173978026 173978026 single base substitution A C intron_variant LINC-JP 1 173989087 173989087 single base substitution A C intron_variant LIRI-JP 1 173900356 173900356 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 173902604 173902604 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 173902604 173902604 single base substitution T C downstream_gene_variant LIRI-JP 1 173903300 173903303 deletion of <=200bp GTAA - 3_prime_UTR_variant LIRI-JP 1 173903300 173903303 deletion of <=200bp GTAA - downstream_gene_variant LIRI-JP 1 173904037 173904037 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 173904037 173904037 single base substitution A C downstream_gene_variant LIRI-JP 1 173904954 173904954 single base substitution G C 3_prime_UTR_variant LIRI-JP 1 173904954 173904954 single base substitution G C downstream_gene_variant LIRI-JP 1 173908278 173908278 single base substitution A G intron_variant LIRI-JP 1 173908322 173908322 single base substitution G A intron_variant LIRI-JP 1 173908627 173908627 single base substitution C A intron_variant LIRI-JP 1 173914115 173914115 single base substitution T C intron_variant LIRI-JP 1 173914115 173914115 single base substitution T C upstream_gene_variant LIRI-JP 1 173916107 173916107 single base substitution A C intron_variant LIRI-JP 1 173921115 173921115 single base substitution T G intron_variant LIRI-JP 1 173922104 173922104 single base substitution T G intron_variant LIRI-JP 1 173922410 173922410 single base substitution T A intron_variant LIRI-JP 1 173922796 173922796 single base substitution C T intron_variant LIRI-JP 1 173923913 173923913 single base substitution C A intron_variant LIRI-JP 1 173925588 173925588 single base substitution G A downstream_gene_variant LIRI-JP 1 173925588 173925588 single base substitution G A intron_variant LIRI-JP 1 173926140 173926140 single base substitution C G downstream_gene_variant LIRI-JP 1 173926140 173926140 single base substitution C G intron_variant LIRI-JP 1 173927885 173927885 single base substitution C A downstream_gene_variant LIRI-JP 1 173927885 173927885 single base substitution C A intron_variant LIRI-JP 1 173929375 173929375 single base substitution C A downstream_gene_variant LIRI-JP 1 173929375 173929375 single base substitution C A intron_variant LIRI-JP 1 173930005 173930005 single base substitution G T downstream_gene_variant LIRI-JP 1 173930005 173930005 single base substitution G T intron_variant LIRI-JP 1 173931343 173931343 insertion of <=200bp - A intron_variant LIRI-JP 1 173931343 173931343 insertion of <=200bp - A upstream_gene_variant LIRI-JP 1 173935366 173935366 single base substitution G T intron_variant LIRI-JP 1 173935366 173935366 single base substitution G T upstream_gene_variant LIRI-JP 1 173936108 173936108 deletion of <=200bp T - intron_variant LIRI-JP 1 173936790 173936790 single base substitution A C intron_variant LIRI-JP 1 173937062 173937062 single base substitution G A intron_variant LIRI-JP 1 173937256 173937256 single base substitution T C intron_variant LIRI-JP 1 173938995 173938995 single base substitution T C intron_variant LIRI-JP 1 173940161 173940161 single base substitution G A intron_variant LIRI-JP 1 173940457 173940457 single base substitution T C intron_variant LIRI-JP 1 173941447 173941447 single base substitution T C intron_variant LIRI-JP 1 173941756 173941756 single base substitution G C missense_variant P371R 1112C>G LIRI-JP 1 173944111 173944111 single base substitution G A intron_variant LIRI-JP 1 173944718 173944718 single base substitution T C intron_variant LIRI-JP 1 173946644 173946644 single base substitution G A downstream_gene_variant LIRI-JP 1 173946644 173946644 single base substitution G A intron_variant LIRI-JP 1 173947434 173947434 insertion of <=200bp - A downstream_gene_variant LIRI-JP 1 173947434 173947434 insertion of <=200bp - A intron_variant LIRI-JP 1 173948380 173948380 single base substitution T C downstream_gene_variant LIRI-JP 1 173948380 173948380 single base substitution T C intron_variant LIRI-JP 1 173948783 173948783 single base substitution G T downstream_gene_variant LIRI-JP 1 173948783 173948783 single base substitution G T intron_variant LIRI-JP 1 173949555 173949555 single base substitution T C downstream_gene_variant LIRI-JP 1 173949555 173949555 single base substitution T C intron_variant LIRI-JP 1 173950163 173950163 single base substitution T C intron_variant LIRI-JP 1 173950459 173950459 single base substitution A T intron_variant LIRI-JP 1 173952603 173952603 single base substitution T C missense_variant N182S 545A>G LIRI-JP 1 173952603 173952603 single base substitution T C upstream_gene_variant LIRI-JP 1 173953251 173953251 single base substitution T C intron_variant LIRI-JP 1 173953251 173953251 single base substitution T C upstream_gene_variant LIRI-JP 1 173957250 173957250 single base substitution T C intron_variant LIRI-JP 1 173959185 173959185 single base substitution T C intron_variant LIRI-JP 1 173962145 173962145 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 1 173962146 173962146 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 1 173966555 173966555 single base substitution T C intron_variant LIRI-JP 1 173966555 173966555 single base substitution T C upstream_gene_variant LIRI-JP 1 173968880 173968880 single base substitution C T intron_variant LIRI-JP 1 173970420 173970420 single base substitution T C intron_variant LIRI-JP 1 173974231 173974231 single base substitution T C intron_variant LIRI-JP 1 173975317 173975317 single base substitution C A intron_variant LIRI-JP 1 173975783 173975783 single base substitution T C intron_variant LIRI-JP 1 173977925 173977925 single base substitution A G intron_variant LIRI-JP 1 173980819 173980819 single base substitution G A intron_variant LIRI-JP 1 173981577 173981577 single base substitution T C intron_variant LIRI-JP 1 173981981 173981981 single base substitution T C intron_variant LIRI-JP 1 173983621 173983621 single base substitution T C intron_variant LIRI-JP 1 173989586 173989586 single base substitution C T intron_variant LIRI-JP 1 173989917 173989917 single base substitution A C intron_variant LIRI-JP 1 173990067 173990067 single base substitution A G intron_variant LIRI-JP 1 173990745 173990745 single base substitution G A intron_variant LIRI-JP 1 173992083 173992083 single base substitution A G upstream_gene_variant LIRI-JP 1 173992680 173992680 single base substitution A C upstream_gene_variant LIRI-JP 1 173992736 173992736 single base substitution A G upstream_gene_variant LIRI-JP 1 173993161 173993161 single base substitution G A upstream_gene_variant LIRI-JP 1 173995728 173995728 single base substitution C T upstream_gene_variant LUSC-KR 1 173895519 173895519 single base substitution C A downstream_gene_variant LUSC-KR 1 173896163 173896163 single base substitution T A downstream_gene_variant LUSC-KR 1 173906635 173906635 single base substitution T A 3_prime_UTR_variant LUSC-KR 1 173906635 173906635 single base substitution T A downstream_gene_variant LUSC-KR 1 173912604 173912604 single base substitution C T synonymous_variant G1028G 3084G>A LUSC-KR 1 173912604 173912604 single base substitution C T synonymous_variant G1037G 3111G>A LUSC-KR 1 173912604 173912604 single base substitution C T upstream_gene_variant LUSC-KR 1 173921267 173921267 single base substitution C G missense_variant E794Q 2380G>C LUSC-KR 1 173928009 173928009 single base substitution C A downstream_gene_variant LUSC-KR 1 173928009 173928009 single base substitution C A intron_variant LUSC-KR 1 173935068 173935068 single base substitution C T intron_variant LUSC-KR 1 173935068 173935068 single base substitution C T upstream_gene_variant LUSC-KR 1 173939866 173939866 single base substitution A G intron_variant LUSC-KR 1 173940854 173940854 single base substitution T A intron_variant LUSC-KR 1 173941673 173941673 single base substitution T A missense_variant S399C 1195A>T LUSC-KR 1 173942672 173942672 single base substitution C A intron_variant LUSC-KR 1 173942766 173942766 single base substitution G C intron_variant LUSC-KR 1 173943940 173943940 single base substitution G A intron_variant LUSC-KR 1 173950695 173950695 single base substitution C G intron_variant LUSC-KR 1 173951553 173951553 single base substitution C T intron_variant LUSC-KR 1 173961837 173961837 single base substitution C G intron_variant LUSC-KR 1 173961839 173961839 single base substitution G C intron_variant LUSC-KR 1 173962006 173962006 single base substitution T A missense_variant M40L 118A>T LUSC-KR 1 173976506 173976506 single base substitution C A intron_variant LUSC-KR 1 173987872 173987872 single base substitution G A intron_variant LUSC-KR 1 173988924 173988924 single base substitution T C intron_variant LUSC-KR 1 173990777 173990777 single base substitution G T intron_variant LUSC-KR 1 173991642 173991642 single base substitution C G upstream_gene_variant LUSC-US 1 173907969 173907969 single base substitution T A exon_variant LUSC-US 1 173907969 173907969 single base substitution T A missense_variant S1090C 3268A>T LUSC-US 1 173907969 173907969 single base substitution T A missense_variant S1098C 3292A>T LUSC-US 1 173916691 173916691 single base substitution C A missense_variant Q851H 2553G>T LUSC-US 1 173930262 173930262 single base substitution G A exon_variant LUSC-US 1 173930262 173930262 single base substitution G A missense_variant P775S 2323C>T LUSC-US 1 173930278 173930278 single base substitution C A exon_variant LUSC-US 1 173930278 173930278 single base substitution C A missense_variant K769N 2307G>T LUSC-US 1 173931144 173931144 single base substitution G A missense_variant H641Y 1921C>T LUSC-US 1 173931144 173931144 single base substitution G A upstream_gene_variant LUSC-US 1 173931198 173931198 single base substitution G A missense_variant R623C 1867C>T LUSC-US 1 173931198 173931198 single base substitution G A upstream_gene_variant LUSC-US 1 173933297 173933297 single base substitution C A missense_variant A549S 1645G>T LUSC-US 1 173933297 173933297 single base substitution C A upstream_gene_variant LUSC-US 1 173962058 173962058 single base substitution G A synonymous_variant D22D 66C>T MALY-DE 1 173895708 173895708 single base substitution T G downstream_gene_variant MALY-DE 1 173896240 173896241 deletion of <=200bp TG - downstream_gene_variant MALY-DE 1 173899242 173899242 single base substitution T C downstream_gene_variant MALY-DE 1 173901373 173901373 single base substitution T A 3_prime_UTR_variant MALY-DE 1 173908095 173908095 single base substitution T C intron_variant MALY-DE 1 173914446 173914446 single base substitution T G intron_variant MALY-DE 1 173914446 173914446 single base substitution T G upstream_gene_variant MALY-DE 1 173915320 173915323 deletion of <=200bp AAAC - intron_variant MALY-DE 1 173915320 173915323 deletion of <=200bp AAAC - upstream_gene_variant MALY-DE 1 173915655 173915655 single base substitution T G missense_variant N974H 2920A>C MALY-DE 1 173915675 173915675 single base substitution C T missense_variant R967Q 2900G>A MALY-DE 1 173917550 173917551 deletion of <=200bp AT - intron_variant MALY-DE 1 173920010 173920010 single base substitution A G intron_variant MALY-DE 1 173920545 173920545 single base substitution A G intron_variant MALY-DE 1 173933399 173933399 single base substitution T C intron_variant MALY-DE 1 173933399 173933399 single base substitution T C upstream_gene_variant MALY-DE 1 173951998 173951998 single base substitution T C exon_variant MALY-DE 1 173951998 173951998 single base substitution T C missense_variant E212G 635A>G MALY-DE 1 173953207 173953207 single base substitution T C intron_variant MALY-DE 1 173953207 173953207 single base substitution T C upstream_gene_variant MALY-DE 1 173958828 173958828 single base substitution T A intron_variant MALY-DE 1 173959419 173959419 single base substitution T C intron_variant MALY-DE 1 173963589 173963589 single base substitution T G intron_variant MALY-DE 1 173963589 173963589 single base substitution T G upstream_gene_variant MALY-DE 1 173969757 173969757 deletion of <=200bp A - intron_variant MALY-DE 1 173972524 173972525 deletion of <=200bp CA - intron_variant MALY-DE 1 173973231 173973231 single base substitution A G intron_variant MALY-DE 1 173976929 173976929 single base substitution C T intron_variant MALY-DE 1 173984346 173984346 single base substitution G A intron_variant MALY-DE 1 173984811 173984812 deletion of <=200bp TA - intron_variant MALY-DE 1 173986445 173986445 single base substitution G C intron_variant MALY-DE 1 173993929 173993929 single base substitution C T upstream_gene_variant MALY-DE 1 173995506 173995506 deletion of <=200bp A - upstream_gene_variant MELA-AU 1 173895484 173895484 single base substitution G A downstream_gene_variant MELA-AU 1 173895636 173895636 single base substitution C T downstream_gene_variant MELA-AU 1 173896230 173896230 single base substitution G A downstream_gene_variant MELA-AU 1 173896466 173896466 single base substitution C T downstream_gene_variant MELA-AU 1 173897646 173897646 single base substitution G A downstream_gene_variant MELA-AU 1 173898294 173898294 single base substitution A G downstream_gene_variant MELA-AU 1 173898879 173898879 single base substitution G A downstream_gene_variant MELA-AU 1 173899174 173899174 single base substitution G A downstream_gene_variant MELA-AU 1 173899452 173899452 single base substitution T C downstream_gene_variant MELA-AU 1 173899692 173899692 single base substitution G A downstream_gene_variant MELA-AU 1 173899856 173899856 single base substitution G A downstream_gene_variant MELA-AU 1 173900265 173900265 deletion of <=200bp A - downstream_gene_variant MELA-AU 1 173900836 173900836 single base substitution A G 3_prime_UTR_variant MELA-AU 1 173900921 173900921 single base substitution A C 3_prime_UTR_variant MELA-AU 1 173901373 173901373 single base substitution T A 3_prime_UTR_variant MELA-AU 1 173901404 173901404 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173901414 173901414 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173901542 173901542 single base substitution A C 3_prime_UTR_variant MELA-AU 1 173901707 173901707 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173901756 173901756 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173902030 173902030 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173902374 173902374 single base substitution G C 3_prime_UTR_variant MELA-AU 1 173902539 173902539 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173902800 173902800 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173902800 173902800 single base substitution G A downstream_gene_variant MELA-AU 1 173903185 173903185 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173903185 173903185 single base substitution C T downstream_gene_variant MELA-AU 1 173903186 173903186 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173903186 173903186 single base substitution G A downstream_gene_variant MELA-AU 1 173903336 173903336 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173903336 173903336 single base substitution G A downstream_gene_variant MELA-AU 1 173903518 173903518 single base substitution A T 3_prime_UTR_variant MELA-AU 1 173903518 173903518 single base substitution A T downstream_gene_variant MELA-AU 1 173903701 173903701 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173903701 173903701 single base substitution G A downstream_gene_variant MELA-AU 1 173903932 173903932 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173903932 173903932 single base substitution G A downstream_gene_variant MELA-AU 1 173903934 173903934 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173903934 173903934 single base substitution G A downstream_gene_variant MELA-AU 1 173904124 173904124 single base substitution A G 3_prime_UTR_variant MELA-AU 1 173904124 173904124 single base substitution A G downstream_gene_variant MELA-AU 1 173904593 173904593 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173904593 173904593 single base substitution G A downstream_gene_variant MELA-AU 1 173904843 173904843 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173904843 173904843 single base substitution G A downstream_gene_variant MELA-AU 1 173904850 173904850 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173904850 173904850 single base substitution G A downstream_gene_variant MELA-AU 1 173905738 173905738 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173905738 173905738 single base substitution G A downstream_gene_variant MELA-AU 1 173906094 173906094 single base substitution A T 3_prime_UTR_variant MELA-AU 1 173906094 173906094 single base substitution A T downstream_gene_variant MELA-AU 1 173907108 173907108 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173907108 173907108 single base substitution G A downstream_gene_variant MELA-AU 1 173907172 173907172 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173907172 173907172 single base substitution G A downstream_gene_variant MELA-AU 1 173907511 173907511 single base substitution A G 3_prime_UTR_variant MELA-AU 1 173907511 173907511 single base substitution A G downstream_gene_variant MELA-AU 1 173908031 173908031 single base substitution G A intron_variant MELA-AU 1 173908107 173908107 single base substitution A G intron_variant MELA-AU 1 173908656 173908656 single base substitution G A intron_variant MELA-AU 1 173909381 173909381 single base substitution A G intron_variant MELA-AU 1 173909504 173909504 single base substitution G A intron_variant MELA-AU 1 173910533 173910533 single base substitution G A exon_variant MELA-AU 1 173910533 173910533 single base substitution G A intron_variant MELA-AU 1 173910572 173910573 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 1 173910572 173910573 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 173911198 173911198 single base substitution G A intron_variant MELA-AU 1 173911198 173911198 single base substitution G A upstream_gene_variant MELA-AU 1 173911277 173911277 single base substitution G A intron_variant MELA-AU 1 173911277 173911277 single base substitution G A upstream_gene_variant MELA-AU 1 173911733 173911733 single base substitution G A intron_variant MELA-AU 1 173911733 173911733 single base substitution G A upstream_gene_variant MELA-AU 1 173913956 173913956 single base substitution G A intron_variant MELA-AU 1 173913956 173913956 single base substitution G A upstream_gene_variant MELA-AU 1 173914819 173914819 single base substitution G A intron_variant MELA-AU 1 173914819 173914819 single base substitution G A upstream_gene_variant MELA-AU 1 173914821 173914821 single base substitution A G intron_variant MELA-AU 1 173914821 173914821 single base substitution A G upstream_gene_variant MELA-AU 1 173914949 173914949 single base substitution G A intron_variant MELA-AU 1 173914949 173914949 single base substitution G A upstream_gene_variant MELA-AU 1 173915036 173915036 single base substitution G A intron_variant MELA-AU 1 173915036 173915036 single base substitution G A upstream_gene_variant MELA-AU 1 173915114 173915114 single base substitution G A intron_variant MELA-AU 1 173915114 173915114 single base substitution G A upstream_gene_variant MELA-AU 1 173915389 173915389 single base substitution G A intron_variant MELA-AU 1 173915389 173915389 single base substitution G A upstream_gene_variant MELA-AU 1 173915390 173915390 single base substitution G A intron_variant MELA-AU 1 173915390 173915390 single base substitution G A upstream_gene_variant MELA-AU 1 173915672 173915672 single base substitution A G missense_variant L968P 2903T>C MELA-AU 1 173915743 173915743 single base substitution C T synonymous_variant E944E 2832G>A MELA-AU 1 173915845 173915845 single base substitution T C intron_variant MELA-AU 1 173915966 173915966 single base substitution G A missense_variant P916S 2746C>T MELA-AU 1 173916296 173916296 single base substitution G A intron_variant MELA-AU 1 173916587 173916587 single base substitution G A missense_variant S886F 2657C>T MELA-AU 1 173917113 173917113 single base substitution G A intron_variant MELA-AU 1 173917740 173917740 single base substitution A G intron_variant MELA-AU 1 173917768 173917768 single base substitution G A intron_variant MELA-AU 1 173918169 173918169 single base substitution A G intron_variant MELA-AU 1 173918642 173918642 single base substitution G A intron_variant MELA-AU 1 173918843 173918843 single base substitution G A intron_variant MELA-AU 1 173919077 173919077 single base substitution G A intron_variant MELA-AU 1 173920150 173920150 single base substitution G A intron_variant MELA-AU 1 173920469 173920469 single base substitution C A intron_variant MELA-AU 1 173920475 173920475 single base substitution A G intron_variant MELA-AU 1 173921155 173921155 single base substitution T A missense_variant D831V 2492A>T MELA-AU 1 173922723 173922723 single base substitution T A intron_variant MELA-AU 1 173923096 173923096 single base substitution G A intron_variant MELA-AU 1 173923697 173923697 single base substitution G A intron_variant MELA-AU 1 173923841 173923841 single base substitution G A intron_variant MELA-AU 1 173923882 173923882 single base substitution G A intron_variant MELA-AU 1 173924271 173924271 single base substitution G A intron_variant MELA-AU 1 173925455 173925455 single base substitution G A downstream_gene_variant MELA-AU 1 173925455 173925455 single base substitution G A intron_variant MELA-AU 1 173925785 173925785 single base substitution G A downstream_gene_variant MELA-AU 1 173925785 173925785 single base substitution G A intron_variant MELA-AU 1 173926169 173926169 single base substitution A G downstream_gene_variant MELA-AU 1 173926169 173926169 single base substitution A G intron_variant MELA-AU 1 173926200 173926200 single base substitution C T downstream_gene_variant MELA-AU 1 173926200 173926200 single base substitution C T intron_variant MELA-AU 1 173926773 173926773 single base substitution G A downstream_gene_variant MELA-AU 1 173926773 173926773 single base substitution G A intron_variant MELA-AU 1 173926886 173926886 single base substitution G A downstream_gene_variant MELA-AU 1 173926886 173926886 single base substitution G A intron_variant MELA-AU 1 173927253 173927253 single base substitution G A downstream_gene_variant MELA-AU 1 173927253 173927253 single base substitution G A intron_variant MELA-AU 1 173928262 173928262 single base substitution A T downstream_gene_variant MELA-AU 1 173928262 173928262 single base substitution A T intron_variant MELA-AU 1 173928766 173928766 single base substitution G A downstream_gene_variant MELA-AU 1 173928766 173928766 single base substitution G A intron_variant MELA-AU 1 173929778 173929778 single base substitution A G downstream_gene_variant MELA-AU 1 173929778 173929778 single base substitution A G intron_variant MELA-AU 1 173930108 173930108 single base substitution G A downstream_gene_variant MELA-AU 1 173930108 173930108 single base substitution G A intron_variant MELA-AU 1 173930116 173930116 single base substitution G A downstream_gene_variant MELA-AU 1 173930116 173930116 single base substitution G A intron_variant MELA-AU 1 173930185 173930185 single base substitution G A exon_variant MELA-AU 1 173930185 173930185 single base substitution G A intron_variant MELA-AU 1 173930212 173930212 single base substitution T C exon_variant MELA-AU 1 173930212 173930212 single base substitution T C splice_region_variant MELA-AU 1 173930358 173930358 single base substitution G A exon_variant MELA-AU 1 173930358 173930358 single base substitution G A missense_variant P743S 2227C>T MELA-AU 1 173931224 173931224 single base substitution T C missense_variant Y614C 1841A>G MELA-AU 1 173931224 173931224 single base substitution T C upstream_gene_variant MELA-AU 1 173931547 173931547 single base substitution C T intron_variant MELA-AU 1 173931547 173931547 single base substitution C T upstream_gene_variant MELA-AU 1 173931618 173931618 single base substitution G A intron_variant MELA-AU 1 173931618 173931618 single base substitution G A upstream_gene_variant MELA-AU 1 173933039 173933039 single base substitution G A intron_variant MELA-AU 1 173933039 173933039 single base substitution G A upstream_gene_variant MELA-AU 1 173933383 173933383 single base substitution T C intron_variant MELA-AU 1 173933383 173933383 single base substitution T C upstream_gene_variant MELA-AU 1 173933609 173933609 single base substitution G A intron_variant MELA-AU 1 173933609 173933609 single base substitution G A upstream_gene_variant MELA-AU 1 173934254 173934254 single base substitution G A missense_variant R447C 1339C>T MELA-AU 1 173934254 173934254 single base substitution G A upstream_gene_variant MELA-AU 1 173935970 173935970 single base substitution C T intron_variant MELA-AU 1 173936272 173936272 single base substitution G A intron_variant MELA-AU 1 173936961 173936961 single base substitution G A intron_variant MELA-AU 1 173937490 173937490 single base substitution G A intron_variant MELA-AU 1 173937986 173937986 single base substitution G A intron_variant MELA-AU 1 173938100 173938100 single base substitution G A intron_variant MELA-AU 1 173938766 173938766 single base substitution G A intron_variant MELA-AU 1 173939762 173939762 single base substitution C A splice_region_variant MELA-AU 1 173940180 173940180 single base substitution A G intron_variant MELA-AU 1 173940371 173940371 single base substitution G A intron_variant MELA-AU 1 173940761 173940761 single base substitution G A intron_variant MELA-AU 1 173940955 173940955 single base substitution G A intron_variant MELA-AU 1 173941149 173941149 single base substitution A G intron_variant MELA-AU 1 173942020 173942020 single base substitution G A intron_variant MELA-AU 1 173942191 173942191 single base substitution G A intron_variant MELA-AU 1 173942582 173942582 single base substitution G A intron_variant MELA-AU 1 173943052 173943052 single base substitution C T intron_variant MELA-AU 1 173943693 173943693 single base substitution G A intron_variant MELA-AU 1 173943799 173943799 single base substitution G A intron_variant MELA-AU 1 173944166 173944166 single base substitution G A intron_variant MELA-AU 1 173945228 173945228 single base substitution G A downstream_gene_variant MELA-AU 1 173945228 173945228 single base substitution G A intron_variant MELA-AU 1 173946420 173946421 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 173946420 173946421 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 173946917 173946917 single base substitution T A downstream_gene_variant MELA-AU 1 173946917 173946917 single base substitution T A intron_variant MELA-AU 1 173947039 173947039 single base substitution A T downstream_gene_variant MELA-AU 1 173947039 173947039 single base substitution A T intron_variant MELA-AU 1 173947542 173947542 single base substitution A T downstream_gene_variant MELA-AU 1 173947542 173947542 single base substitution A T intron_variant MELA-AU 1 173949372 173949372 single base substitution G A downstream_gene_variant MELA-AU 1 173949372 173949372 single base substitution G A intron_variant MELA-AU 1 173949808 173949808 single base substitution C T downstream_gene_variant MELA-AU 1 173949808 173949808 single base substitution C T intron_variant MELA-AU 1 173952313 173952313 single base substitution G A intron_variant MELA-AU 1 173952313 173952313 single base substitution G A upstream_gene_variant MELA-AU 1 173952336 173952336 single base substitution G A intron_variant MELA-AU 1 173952336 173952336 single base substitution G A upstream_gene_variant MELA-AU 1 173952605 173952605 single base substitution G A synonymous_variant S181S 543C>T MELA-AU 1 173952605 173952605 single base substitution G A upstream_gene_variant MELA-AU 1 173953133 173953133 single base substitution G A intron_variant MELA-AU 1 173953133 173953133 single base substitution G A upstream_gene_variant MELA-AU 1 173956729 173956729 single base substitution G A intron_variant MELA-AU 1 173956729 173956729 single base substitution G A upstream_gene_variant MELA-AU 1 173957692 173957692 single base substitution G A intron_variant MELA-AU 1 173958263 173958263 single base substitution C G intron_variant MELA-AU 1 173959455 173959455 single base substitution G C intron_variant MELA-AU 1 173961004 173961004 single base substitution G A intron_variant MELA-AU 1 173961168 173961168 single base substitution A C intron_variant MELA-AU 1 173961353 173961353 single base substitution G A intron_variant MELA-AU 1 173961644 173961645 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 173961839 173961839 single base substitution G C intron_variant MELA-AU 1 173962102 173962102 single base substitution A G missense_variant W8R 22T>C MELA-AU 1 173962529 173962529 single base substitution G A intron_variant MELA-AU 1 173962529 173962529 single base substitution G A upstream_gene_variant MELA-AU 1 173963211 173963211 single base substitution G A intron_variant MELA-AU 1 173963211 173963211 single base substitution G A upstream_gene_variant MELA-AU 1 173963464 173963464 single base substitution G A intron_variant MELA-AU 1 173963464 173963464 single base substitution G A upstream_gene_variant MELA-AU 1 173963709 173963709 single base substitution G A intron_variant MELA-AU 1 173963709 173963709 single base substitution G A upstream_gene_variant MELA-AU 1 173964286 173964286 single base substitution G A intron_variant MELA-AU 1 173964286 173964286 single base substitution G A upstream_gene_variant MELA-AU 1 173964435 173964435 single base substitution G A intron_variant MELA-AU 1 173964435 173964435 single base substitution G A upstream_gene_variant MELA-AU 1 173964748 173964748 single base substitution G A intron_variant MELA-AU 1 173964748 173964748 single base substitution G A upstream_gene_variant MELA-AU 1 173964890 173964890 single base substitution G A intron_variant MELA-AU 1 173964890 173964890 single base substitution G A upstream_gene_variant MELA-AU 1 173964957 173964957 single base substitution G A intron_variant MELA-AU 1 173964957 173964957 single base substitution G A upstream_gene_variant MELA-AU 1 173966024 173966024 single base substitution A C intron_variant MELA-AU 1 173966024 173966024 single base substitution A C upstream_gene_variant MELA-AU 1 173966345 173966345 single base substitution G A intron_variant MELA-AU 1 173966345 173966345 single base substitution G A upstream_gene_variant MELA-AU 1 173966479 173966479 single base substitution G T intron_variant MELA-AU 1 173966479 173966479 single base substitution G T upstream_gene_variant MELA-AU 1 173966823 173966823 single base substitution T A intron_variant MELA-AU 1 173966823 173966823 single base substitution T A upstream_gene_variant MELA-AU 1 173967598 173967598 single base substitution T G intron_variant MELA-AU 1 173967951 173967951 single base substitution T C intron_variant MELA-AU 1 173968259 173968259 single base substitution G C intron_variant MELA-AU 1 173968330 173968330 single base substitution C T intron_variant MELA-AU 1 173968414 173968414 single base substitution A T intron_variant MELA-AU 1 173968682 173968682 single base substitution T C intron_variant MELA-AU 1 173969287 173969287 single base substitution T C intron_variant MELA-AU 1 173969730 173969730 single base substitution G A intron_variant MELA-AU 1 173970219 173970219 single base substitution G A intron_variant MELA-AU 1 173971311 173971311 single base substitution G A intron_variant MELA-AU 1 173972135 173972135 single base substitution C G intron_variant MELA-AU 1 173972457 173972457 single base substitution G A intron_variant MELA-AU 1 173973187 173973187 single base substitution G A intron_variant MELA-AU 1 173973269 173973269 single base substitution G A intron_variant MELA-AU 1 173975156 173975156 single base substitution C A intron_variant MELA-AU 1 173976129 173976130 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 173976346 173976346 single base substitution G A intron_variant MELA-AU 1 173976347 173976347 single base substitution G A intron_variant MELA-AU 1 173977620 173977621 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 173977702 173977702 single base substitution G A intron_variant MELA-AU 1 173978532 173978532 single base substitution C T intron_variant MELA-AU 1 173980795 173980795 single base substitution G A intron_variant MELA-AU 1 173980828 173980828 single base substitution G A intron_variant MELA-AU 1 173980931 173980931 single base substitution T C intron_variant MELA-AU 1 173980985 173980985 single base substitution A G intron_variant MELA-AU 1 173981718 173981718 single base substitution G A intron_variant MELA-AU 1 173981816 173981816 single base substitution G A intron_variant MELA-AU 1 173982051 173982051 single base substitution G A intron_variant MELA-AU 1 173982245 173982245 single base substitution G A intron_variant MELA-AU 1 173982993 173982993 single base substitution C T intron_variant MELA-AU 1 173983745 173983745 single base substitution A T intron_variant MELA-AU 1 173984167 173984167 single base substitution A C intron_variant MELA-AU 1 173984171 173984171 single base substitution G A intron_variant MELA-AU 1 173984414 173984414 single base substitution A G intron_variant MELA-AU 1 173984689 173984689 single base substitution G A intron_variant MELA-AU 1 173985177 173985177 single base substitution G A intron_variant MELA-AU 1 173985562 173985562 single base substitution T A intron_variant MELA-AU 1 173985646 173985646 single base substitution C T intron_variant MELA-AU 1 173986147 173986147 single base substitution G A intron_variant MELA-AU 1 173987221 173987222 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 173987453 173987453 single base substitution G A intron_variant MELA-AU 1 173989068 173989068 single base substitution G A intron_variant MELA-AU 1 173990235 173990235 single base substitution A C intron_variant MELA-AU 1 173991348 173991348 single base substitution C T 5_prime_UTR_variant MELA-AU 1 173991508 173991508 single base substitution C T upstream_gene_variant MELA-AU 1 173991532 173991532 single base substitution C T upstream_gene_variant MELA-AU 1 173991561 173991561 single base substitution G A upstream_gene_variant MELA-AU 1 173991918 173991918 single base substitution C T upstream_gene_variant MELA-AU 1 173992039 173992039 single base substitution G A upstream_gene_variant MELA-AU 1 173992094 173992094 single base substitution C A upstream_gene_variant MELA-AU 1 173992463 173992463 single base substitution C T upstream_gene_variant MELA-AU 1 173992489 173992489 single base substitution T A upstream_gene_variant MELA-AU 1 173993123 173993123 single base substitution C T upstream_gene_variant MELA-AU 1 173993161 173993161 single base substitution G A upstream_gene_variant MELA-AU 1 173993310 173993310 single base substitution G A upstream_gene_variant MELA-AU 1 173993915 173993915 single base substitution A G upstream_gene_variant MELA-AU 1 173994058 173994058 single base substitution G A upstream_gene_variant MELA-AU 1 173994189 173994189 single base substitution C T upstream_gene_variant MELA-AU 1 173994859 173994859 single base substitution G A upstream_gene_variant MELA-AU 1 173995763 173995763 single base substitution T C upstream_gene_variant MELA-AU 1 173995955 173995955 single base substitution G A upstream_gene_variant MELA-AU 1 173996111 173996111 single base substitution A C upstream_gene_variant MELA-AU 1 173996140 173996140 single base substitution G A upstream_gene_variant MELA-AU 1 173996283 173996283 single base substitution T C upstream_gene_variant ORCA-IN 1 173917908 173917908 single base substitution G C intron_variant ORCA-IN 1 173953694 173953694 single base substitution C T missense_variant A99T 295G>A ORCA-IN 1 173953694 173953694 single base substitution C T upstream_gene_variant ORCA-IN 1 173979740 173979740 single base substitution C G intron_variant ORCA-IN 1 173993742 173993742 single base substitution C T upstream_gene_variant OV-AU 1 173895386 173895386 single base substitution C A downstream_gene_variant OV-AU 1 173900795 173900795 single base substitution C T 3_prime_UTR_variant OV-AU 1 173904774 173904774 single base substitution T C 3_prime_UTR_variant OV-AU 1 173904774 173904774 single base substitution T C downstream_gene_variant OV-AU 1 173909658 173909658 single base substitution G C intron_variant OV-AU 1 173909800 173909800 single base substitution A G intron_variant OV-AU 1 173912334 173912334 single base substitution A G intron_variant OV-AU 1 173912334 173912334 single base substitution A G upstream_gene_variant OV-AU 1 173913881 173913881 single base substitution G T intron_variant OV-AU 1 173913881 173913881 single base substitution G T upstream_gene_variant OV-AU 1 173918872 173918872 single base substitution G C intron_variant OV-AU 1 173921166 173921166 single base substitution T G synonymous_variant A827A 2481A>C OV-AU 1 173922100 173922100 single base substitution G C intron_variant OV-AU 1 173926251 173926251 single base substitution G C downstream_gene_variant OV-AU 1 173926251 173926251 single base substitution G C intron_variant OV-AU 1 173929081 173929081 single base substitution T A downstream_gene_variant OV-AU 1 173929081 173929081 single base substitution T A intron_variant OV-AU 1 173931381 173931381 single base substitution T A intron_variant OV-AU 1 173931381 173931381 single base substitution T A upstream_gene_variant OV-AU 1 173935137 173935137 single base substitution G A intron_variant OV-AU 1 173935137 173935137 single base substitution G A upstream_gene_variant OV-AU 1 173935818 173935818 single base substitution A C intron_variant OV-AU 1 173935818 173935818 single base substitution A C upstream_gene_variant OV-AU 1 173941101 173941101 single base substitution A C intron_variant OV-AU 1 173941210 173941210 single base substitution A T intron_variant OV-AU 1 173942767 173942767 single base substitution C A intron_variant OV-AU 1 173949845 173949845 single base substitution A G downstream_gene_variant OV-AU 1 173949845 173949845 single base substitution A G intron_variant OV-AU 1 173958189 173958189 single base substitution T C intron_variant OV-AU 1 173966345 173966345 single base substitution G A intron_variant OV-AU 1 173966345 173966345 single base substitution G A upstream_gene_variant OV-AU 1 173967205 173967205 single base substitution T C intron_variant OV-AU 1 173967205 173967205 single base substitution T C upstream_gene_variant OV-AU 1 173968529 173968529 single base substitution A G intron_variant OV-AU 1 173972832 173972832 single base substitution T G intron_variant OV-AU 1 173973270 173973270 single base substitution G A intron_variant OV-AU 1 173976371 173976371 single base substitution C T intron_variant OV-AU 1 173988009 173988009 single base substitution A T intron_variant OV-AU 1 173990460 173990460 single base substitution T C intron_variant OV-AU 1 173991769 173991769 single base substitution G T upstream_gene_variant OV-AU 1 173993765 173993765 single base substitution G T upstream_gene_variant OV-US 1 173953671 173953671 single base substitution T C synonymous_variant L106L 318A>G OV-US 1 173953671 173953671 single base substitution T C upstream_gene_variant PACA-AU 1 173895764 173895764 single base substitution C T downstream_gene_variant PACA-AU 1 173896585 173896585 single base substitution A G downstream_gene_variant PACA-AU 1 173897904 173897904 single base substitution C T downstream_gene_variant PACA-AU 1 173899079 173899079 single base substitution C A downstream_gene_variant PACA-AU 1 173901069 173901069 single base substitution T G 3_prime_UTR_variant PACA-AU 1 173903091 173903091 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 1 173903091 173903091 deletion of <=200bp A - downstream_gene_variant PACA-AU 1 173905098 173905098 single base substitution C T 3_prime_UTR_variant PACA-AU 1 173905098 173905098 single base substitution C T downstream_gene_variant PACA-AU 1 173905567 173905567 single base substitution G A 3_prime_UTR_variant PACA-AU 1 173905567 173905567 single base substitution G A downstream_gene_variant PACA-AU 1 173907643 173907643 single base substitution C T 3_prime_UTR_variant PACA-AU 1 173907643 173907643 single base substitution C T downstream_gene_variant PACA-AU 1 173911366 173911366 single base substitution C T intron_variant PACA-AU 1 173911366 173911366 single base substitution C T upstream_gene_variant PACA-AU 1 173915622 173915622 single base substitution C A stop_gained G985* 2953G>T PACA-AU 1 173915794 173915794 single base substitution T C intron_variant PACA-AU 1 173916570 173916570 single base substitution C A missense_variant G892C 2674G>T PACA-AU 1 173916571 173916571 single base substitution C A missense_variant Q891H 2673G>T PACA-AU 1 173921746 173921746 single base substitution C T intron_variant PACA-AU 1 173924381 173924381 single base substitution A G intron_variant PACA-AU 1 173925359 173925359 single base substitution G A downstream_gene_variant PACA-AU 1 173925359 173925359 single base substitution G A intron_variant PACA-AU 1 173936016 173936016 single base substitution T C intron_variant PACA-AU 1 173937659 173937659 single base substitution C T intron_variant PACA-AU 1 173940853 173940856 deletion of <=200bp ATAA - intron_variant PACA-AU 1 173941674 173941674 single base substitution G A synonymous_variant H398H 1194C>T PACA-AU 1 173941803 173941803 single base substitution A G intron_variant PACA-AU 1 173942653 173942654 deletion of <=200bp AC - intron_variant PACA-AU 1 173943268 173943268 single base substitution A T intron_variant PACA-AU 1 173946700 173946700 insertion of <=200bp - G downstream_gene_variant PACA-AU 1 173946700 173946700 insertion of <=200bp - G intron_variant PACA-AU 1 173947713 173947713 single base substitution T C downstream_gene_variant PACA-AU 1 173947713 173947713 single base substitution T C missense_variant I339V 1015A>G PACA-AU 1 173948453 173948453 single base substitution C A downstream_gene_variant PACA-AU 1 173948453 173948453 single base substitution C A intron_variant PACA-AU 1 173950862 173950862 single base substitution G T intron_variant PACA-AU 1 173951178 173951178 single base substitution C T intron_variant PACA-AU 1 173955576 173955576 single base substitution C A intron_variant PACA-AU 1 173955576 173955576 single base substitution C A upstream_gene_variant PACA-AU 1 173962338 173962340 deletion of <=200bp ACC - intron_variant PACA-AU 1 173962338 173962340 deletion of <=200bp ACC - upstream_gene_variant PACA-AU 1 173964371 173964371 single base substitution T C intron_variant PACA-AU 1 173964371 173964371 single base substitution T C upstream_gene_variant PACA-AU 1 173966105 173966105 single base substitution C T intron_variant PACA-AU 1 173966105 173966105 single base substitution C T upstream_gene_variant PACA-AU 1 173966345 173966345 single base substitution G A intron_variant PACA-AU 1 173966345 173966345 single base substitution G A upstream_gene_variant PACA-AU 1 173966677 173966680 deletion of <=200bp TTTG - intron_variant PACA-AU 1 173966677 173966680 deletion of <=200bp TTTG - upstream_gene_variant PACA-AU 1 173966863 173966863 single base substitution G A intron_variant PACA-AU 1 173966863 173966863 single base substitution G A upstream_gene_variant PACA-AU 1 173977690 173977690 single base substitution G T intron_variant PACA-AU 1 173991707 173991707 single base substitution G A upstream_gene_variant PACA-AU 1 173993094 173993094 single base substitution G T upstream_gene_variant PACA-AU 1 173994488 173994488 single base substitution T A upstream_gene_variant PACA-AU 1 173995013 173995013 single base substitution G A upstream_gene_variant PACA-AU 1 173995555 173995555 single base substitution A T upstream_gene_variant PACA-CA 1 173897215 173897215 single base substitution T G downstream_gene_variant PACA-CA 1 173901105 173901105 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 1 173909501 173909501 single base substitution C T intron_variant PACA-CA 1 173910969 173910969 single base substitution C T intron_variant PACA-CA 1 173910969 173910969 single base substitution C T upstream_gene_variant PACA-CA 1 173915343 173915343 single base substitution C A intron_variant PACA-CA 1 173915343 173915343 single base substitution C A upstream_gene_variant PACA-CA 1 173915347 173915347 single base substitution A C intron_variant PACA-CA 1 173915347 173915347 single base substitution A C upstream_gene_variant PACA-CA 1 173919126 173919126 single base substitution G A intron_variant PACA-CA 1 173920470 173920470 single base substitution A C intron_variant PACA-CA 1 173920839 173920839 single base substitution T G intron_variant PACA-CA 1 173921981 173921981 single base substitution T C intron_variant PACA-CA 1 173928887 173928887 single base substitution G A downstream_gene_variant PACA-CA 1 173928887 173928887 single base substitution G A intron_variant PACA-CA 1 173930909 173930909 single base substitution T C exon_variant PACA-CA 1 173930909 173930909 single base substitution T C missense_variant Y719C 2156A>G PACA-CA 1 173931650 173931650 single base substitution G A intron_variant PACA-CA 1 173931650 173931650 single base substitution G A upstream_gene_variant PACA-CA 1 173932641 173932641 single base substitution A T intron_variant PACA-CA 1 173932641 173932641 single base substitution A T upstream_gene_variant PACA-CA 1 173933894 173933894 single base substitution T A intron_variant PACA-CA 1 173933894 173933894 single base substitution T A upstream_gene_variant PACA-CA 1 173935568 173935568 single base substitution C T intron_variant PACA-CA 1 173935568 173935568 single base substitution C T upstream_gene_variant PACA-CA 1 173941595 173941595 single base substitution T G intron_variant PACA-CA 1 173945320 173945320 single base substitution A C downstream_gene_variant PACA-CA 1 173945320 173945320 single base substitution A C intron_variant PACA-CA 1 173952761 173952761 single base substitution C G synonymous_variant L129L 387G>C PACA-CA 1 173952761 173952761 single base substitution C G upstream_gene_variant PACA-CA 1 173954385 173954385 single base substitution C T intron_variant PACA-CA 1 173954385 173954385 single base substitution C T upstream_gene_variant PACA-CA 1 173958718 173958718 deletion of <=200bp A - intron_variant PACA-CA 1 173958745 173958745 single base substitution C G intron_variant PACA-CA 1 173962955 173962955 single base substitution C T intron_variant PACA-CA 1 173962955 173962955 single base substitution C T upstream_gene_variant PACA-CA 1 173967103 173967103 single base substitution C T intron_variant PACA-CA 1 173967103 173967103 single base substitution C T upstream_gene_variant PACA-CA 1 173981268 173981268 single base substitution C T intron_variant PACA-CA 1 173985349 173985361 deletion of <=200bp TTATTTTTATAAT - intron_variant PACA-CA 1 173986103 173986103 insertion of <=200bp - T intron_variant PACA-CA 1 173988652 173988652 single base substitution C A intron_variant PACA-CA 1 173994030 173994030 single base substitution A T upstream_gene_variant PAEN-AU 1 173896666 173896666 single base substitution T C downstream_gene_variant PAEN-AU 1 173918614 173918614 single base substitution C G intron_variant PAEN-AU 1 173922575 173922575 insertion of <=200bp - A intron_variant PAEN-AU 1 173933424 173933424 single base substitution A G intron_variant PAEN-AU 1 173933424 173933424 single base substitution A G upstream_gene_variant PAEN-AU 1 173934711 173934711 single base substitution G C intron_variant PAEN-AU 1 173934711 173934711 single base substitution G C upstream_gene_variant PAEN-AU 1 173961528 173961528 single base substitution A C intron_variant PAEN-IT 1 173907723 173907723 single base substitution G A 3_prime_UTR_variant PAEN-IT 1 173907723 173907723 single base substitution G A exon_variant PAEN-IT 1 173948065 173948065 single base substitution G T downstream_gene_variant PAEN-IT 1 173948065 173948065 single base substitution G T intron_variant PBCA-DE 1 173897961 173897961 single base substitution A G downstream_gene_variant PBCA-DE 1 173898939 173898939 single base substitution C A downstream_gene_variant PBCA-DE 1 173917550 173917551 deletion of <=200bp AT - intron_variant PBCA-DE 1 173920684 173920684 single base substitution A T intron_variant PBCA-DE 1 173925517 173925517 single base substitution A G downstream_gene_variant PBCA-DE 1 173925517 173925517 single base substitution A G intron_variant PBCA-DE 1 173926708 173926708 single base substitution C T downstream_gene_variant PBCA-DE 1 173926708 173926708 single base substitution C T intron_variant PBCA-DE 1 173933391 173933391 insertion of <=200bp - A intron_variant PBCA-DE 1 173933391 173933391 insertion of <=200bp - A upstream_gene_variant PBCA-DE 1 173935860 173935860 deletion of <=200bp A - intron_variant PBCA-DE 1 173935860 173935860 deletion of <=200bp A - upstream_gene_variant PBCA-DE 1 173940097 173940097 single base substitution A C intron_variant PBCA-DE 1 173954741 173954742 deletion of <=200bp TA - intron_variant PBCA-DE 1 173954741 173954742 deletion of <=200bp TA - upstream_gene_variant PBCA-DE 1 173956471 173956471 single base substitution C T intron_variant PBCA-DE 1 173956471 173956471 single base substitution C T upstream_gene_variant PBCA-DE 1 173972524 173972525 deletion of <=200bp CA - intron_variant PBCA-DE 1 173980410 173980410 insertion of <=200bp - A intron_variant PBCA-DE 1 173984811 173984811 insertion of <=200bp - TA intron_variant PBCA-DE 1 173984811 173984812 deletion of <=200bp TA - intron_variant PBCA-DE 1 173988818 173988818 single base substitution A T intron_variant PBCA-DE 1 173989671 173989671 single base substitution T C intron_variant PBCA-DE 1 173993769 173993769 single base substitution G A upstream_gene_variant PBCA-DE 1 173995116 173995116 single base substitution A G upstream_gene_variant PRAD-CA 1 173925284 173925284 single base substitution G A downstream_gene_variant PRAD-CA 1 173925284 173925284 single base substitution G A intron_variant PRAD-CA 1 173961055 173961055 single base substitution C T intron_variant PRAD-CA 1 173961837 173961837 single base substitution C G intron_variant PRAD-CA 1 173982848 173982848 single base substitution G A intron_variant PRAD-CA 1 173990484 173990484 single base substitution T C intron_variant PRAD-UK 1 173911639 173911639 insertion of <=200bp - A intron_variant PRAD-UK 1 173911639 173911639 insertion of <=200bp - A upstream_gene_variant PRAD-UK 1 173911647 173911647 insertion of <=200bp - A intron_variant PRAD-UK 1 173911647 173911647 insertion of <=200bp - A upstream_gene_variant PRAD-UK 1 173922797 173922797 single base substitution G A intron_variant PRAD-UK 1 173923617 173923617 single base substitution C T intron_variant PRAD-UK 1 173935522 173935522 single base substitution A T intron_variant PRAD-UK 1 173935522 173935522 single base substitution A T upstream_gene_variant PRAD-UK 1 173940821 173940821 single base substitution A C intron_variant PRAD-UK 1 173943851 173943851 single base substitution C A intron_variant PRAD-UK 1 173946913 173946913 single base substitution G A downstream_gene_variant PRAD-UK 1 173946913 173946913 single base substitution G A intron_variant PRAD-UK 1 173956898 173956898 single base substitution A G intron_variant PRAD-UK 1 173956898 173956898 single base substitution A G upstream_gene_variant PRAD-UK 1 173966835 173966835 single base substitution G A intron_variant PRAD-UK 1 173966835 173966835 single base substitution G A upstream_gene_variant PRAD-UK 1 173967310 173967310 insertion of <=200bp - A intron_variant PRAD-UK 1 173968027 173968027 single base substitution T G intron_variant PRAD-UK 1 173970993 173970993 single base substitution A C intron_variant PRAD-UK 1 173981220 173981220 single base substitution G A intron_variant PRAD-UK 1 173988585 173988585 single base substitution G A intron_variant PRAD-US 1 173941766 173941766 insertion of <=200bp - TA splice_acceptor_variant READ-US 1 173947709 173947709 single base substitution G A downstream_gene_variant READ-US 1 173947709 173947709 single base substitution G A missense_variant A340V 1019C>T RECA-EU 1 173899996 173899996 single base substitution C A downstream_gene_variant RECA-EU 1 173905122 173905122 single base substitution G T 3_prime_UTR_variant RECA-EU 1 173905122 173905122 single base substitution G T downstream_gene_variant RECA-EU 1 173915035 173915035 single base substitution C T intron_variant RECA-EU 1 173915035 173915035 single base substitution C T upstream_gene_variant RECA-EU 1 173927536 173927536 single base substitution A T downstream_gene_variant RECA-EU 1 173927536 173927536 single base substitution A T intron_variant RECA-EU 1 173934182 173934182 single base substitution G C missense_variant L471V 1411C>G RECA-EU 1 173934182 173934182 single base substitution G C upstream_gene_variant RECA-EU 1 173948048 173948048 single base substitution G T downstream_gene_variant RECA-EU 1 173948048 173948048 single base substitution G T intron_variant RECA-EU 1 173948049 173948049 single base substitution T C downstream_gene_variant RECA-EU 1 173948049 173948049 single base substitution T C intron_variant RECA-EU 1 173950032 173950032 single base substitution C T downstream_gene_variant RECA-EU 1 173950032 173950032 single base substitution C T missense_variant G295D 884G>A RECA-EU 1 173950033 173950033 single base substitution C T downstream_gene_variant RECA-EU 1 173950033 173950033 single base substitution C T missense_variant G295S 883G>A RECA-EU 1 173958343 173958343 single base substitution G T intron_variant RECA-EU 1 173966941 173966941 single base substitution A T intron_variant RECA-EU 1 173966941 173966941 single base substitution A T upstream_gene_variant RECA-EU 1 173973967 173973967 single base substitution T C intron_variant RECA-EU 1 173974770 173974770 single base substitution A G intron_variant RECA-EU 1 173975269 173975269 single base substitution T C intron_variant RECA-EU 1 173993737 173993737 single base substitution G A upstream_gene_variant SKCA-BR 1 173895834 173895835 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 1 173895933 173895933 single base substitution G A downstream_gene_variant SKCA-BR 1 173895934 173895934 single base substitution G A downstream_gene_variant SKCA-BR 1 173901509 173901509 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 173904998 173904998 single base substitution A G 3_prime_UTR_variant SKCA-BR 1 173904998 173904998 single base substitution A G downstream_gene_variant SKCA-BR 1 173905868 173905870 deletion of <=200bp CAT - 3_prime_UTR_variant SKCA-BR 1 173905868 173905870 deletion of <=200bp CAT - downstream_gene_variant SKCA-BR 1 173905899 173905899 single base substitution A T 3_prime_UTR_variant SKCA-BR 1 173905899 173905899 single base substitution A T downstream_gene_variant SKCA-BR 1 173908329 173908329 single base substitution A G intron_variant SKCA-BR 1 173915370 173915370 single base substitution G A intron_variant SKCA-BR 1 173915370 173915370 single base substitution G A upstream_gene_variant SKCA-BR 1 173917650 173917650 single base substitution G A intron_variant SKCA-BR 1 173923998 173923998 single base substitution G A intron_variant SKCA-BR 1 173924565 173924565 single base substitution C G intron_variant SKCA-BR 1 173926298 173926298 single base substitution G A downstream_gene_variant SKCA-BR 1 173926298 173926298 single base substitution G A intron_variant SKCA-BR 1 173926712 173926712 single base substitution G T downstream_gene_variant SKCA-BR 1 173926712 173926712 single base substitution G T intron_variant SKCA-BR 1 173928540 173928540 single base substitution T G downstream_gene_variant SKCA-BR 1 173928540 173928540 single base substitution T G intron_variant SKCA-BR 1 173930735 173930735 single base substitution T A intron_variant SKCA-BR 1 173931089 173931089 single base substitution G A missense_variant P659L 1976C>T SKCA-BR 1 173931089 173931089 single base substitution G A upstream_gene_variant SKCA-BR 1 173938481 173938481 single base substitution G A intron_variant SKCA-BR 1 173940098 173940098 insertion of <=200bp - CT intron_variant SKCA-BR 1 173940333 173940333 single base substitution C A intron_variant SKCA-BR 1 173940505 173940505 single base substitution T A intron_variant SKCA-BR 1 173947265 173947265 single base substitution G A downstream_gene_variant SKCA-BR 1 173947265 173947265 single base substitution G A intron_variant SKCA-BR 1 173949256 173949256 insertion of <=200bp - TC downstream_gene_variant SKCA-BR 1 173949256 173949256 insertion of <=200bp - TC intron_variant SKCA-BR 1 173951452 173951452 single base substitution G A intron_variant SKCA-BR 1 173954555 173954555 insertion of <=200bp - CAATTCTTCCACATTTTATGTAGAAAGAT intron_variant SKCA-BR 1 173954555 173954555 insertion of <=200bp - CAATTCTTCCACATTTTATGTAGAAAGAT upstream_gene_variant SKCA-BR 1 173955295 173955295 single base substitution G A intron_variant SKCA-BR 1 173955295 173955295 single base substitution G A upstream_gene_variant SKCA-BR 1 173958420 173958420 single base substitution G A intron_variant SKCA-BR 1 173962550 173962551 deletion of <=200bp CT - intron_variant SKCA-BR 1 173962550 173962551 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 1 173963459 173963459 single base substitution A G intron_variant SKCA-BR 1 173963459 173963459 single base substitution A G upstream_gene_variant SKCA-BR 1 173963953 173963953 single base substitution G A intron_variant SKCA-BR 1 173963953 173963953 single base substitution G A upstream_gene_variant SKCA-BR 1 173963958 173963958 single base substitution A C intron_variant SKCA-BR 1 173963958 173963958 single base substitution A C upstream_gene_variant SKCA-BR 1 173965179 173965179 single base substitution G A intron_variant SKCA-BR 1 173965179 173965179 single base substitution G A upstream_gene_variant SKCA-BR 1 173967336 173967336 single base substitution T A intron_variant SKCA-BR 1 173968531 173968531 single base substitution G A intron_variant SKCA-BR 1 173968532 173968533 deletion of <=200bp AG - intron_variant SKCA-BR 1 173970776 173970776 single base substitution C T intron_variant SKCA-BR 1 173971695 173971695 single base substitution A G intron_variant SKCA-BR 1 173977700 173977700 single base substitution A T intron_variant SKCA-BR 1 173980037 173980037 single base substitution G A intron_variant SKCA-BR 1 173984387 173984387 insertion of <=200bp - CT intron_variant SKCA-BR 1 173984810 173984810 insertion of <=200bp - TTA intron_variant SKCA-BR 1 173985560 173985560 insertion of <=200bp - CT intron_variant SKCA-BR 1 173987237 173987237 single base substitution C A intron_variant SKCA-BR 1 173989583 173989583 single base substitution G A intron_variant SKCA-BR 1 173989603 173989603 single base substitution T G intron_variant SKCA-BR 1 173991590 173991590 single base substitution A G upstream_gene_variant SKCA-BR 1 173991666 173991666 single base substitution C T upstream_gene_variant SKCM-US 1 173915704 173915704 single base substitution G A synonymous_variant P957P 2871C>T SKCM-US 1 173930261 173930261 single base substitution G A exon_variant SKCM-US 1 173930261 173930261 single base substitution G A missense_variant P775L 2324C>T SKCM-US 1 173933267 173933267 single base substitution G A missense_variant P559S 1675C>T SKCM-US 1 173933267 173933267 single base substitution G A upstream_gene_variant SKCM-US 1 173933295 173933295 single base substitution G C synonymous_variant A549A 1647C>G SKCM-US 1 173933295 173933295 single base substitution G C upstream_gene_variant SKCM-US 1 173934254 173934254 single base substitution G A missense_variant R447C 1339C>T SKCM-US 1 173934254 173934254 single base substitution G A upstream_gene_variant SKCM-US 1 173939703 173939703 single base substitution C T missense_variant R425K 1274G>A SKCM-US 1 173949997 173949997 single base substitution G A downstream_gene_variant SKCM-US 1 173949997 173949997 single base substitution G A missense_variant L307F 919C>T SKCM-US 1 173951933 173951933 single base substitution A G exon_variant SKCM-US 1 173951933 173951933 single base substitution A G missense_variant F234L 700T>C SKCM-US 1 173952619 173952619 single base substitution G C missense_variant Q177E 529C>G SKCM-US 1 173952619 173952619 single base substitution G C upstream_gene_variant SKCM-US 1 173952757 173952757 single base substitution G C missense_variant R131G 391C>G SKCM-US 1 173952757 173952757 single base substitution G C upstream_gene_variant SKCM-US 1 173953695 173953695 single base substitution T G missense_variant E98D 294A>C SKCM-US 1 173953695 173953695 single base substitution T G upstream_gene_variant SKCM-US 1 173962102 173962102 single base substitution A G missense_variant W8R 22T>C STAD-US 1 173912741 173912741 single base substitution T G intron_variant STAD-US 1 173912741 173912741 single base substitution T G synonymous_variant R992R 2974A>C STAD-US 1 173912741 173912741 single base substitution T G upstream_gene_variant STAD-US 1 173915728 173915728 single base substitution T C synonymous_variant S949S 2847A>G STAD-US 1 173930312 173930312 single base substitution C T exon_variant STAD-US 1 173930312 173930312 single base substitution C T missense_variant R758Q 2273G>A STAD-US 1 173931083 173931083 single base substitution T C missense_variant Q661R 1982A>G STAD-US 1 173931083 173931083 single base substitution T C upstream_gene_variant STAD-US 1 173934066 173934066 single base substitution C T synonymous_variant P509P 1527G>A STAD-US 1 173934066 173934066 single base substitution C T upstream_gene_variant STAD-US 1 173934070 173934070 single base substitution A G missense_variant I508T 1523T>C STAD-US 1 173934070 173934070 single base substitution A G upstream_gene_variant STAD-US 1 173939714 173939714 single base substitution A G synonymous_variant D421D 1263T>C STAD-US 1 173950010 173950010 single base substitution C T downstream_gene_variant STAD-US 1 173950010 173950010 single base substitution C T synonymous_variant Q302Q 906G>A STAD-US 1 173951935 173951935 single base substitution C T exon_variant STAD-US 1 173951935 173951935 single base substitution C T missense_variant R233Q 698G>A STAD-US 1 173952672 173952672 single base substitution C T missense_variant R159Q 476G>A STAD-US 1 173952672 173952672 single base substitution C T upstream_gene_variant STAD-US 1 173953746 173953746 single base substitution C T synonymous_variant Q81Q 243G>A STAD-US 1 173953746 173953746 single base substitution C T upstream_gene_variant STAD-US 1 173962014 173962014 single base substitution A G missense_variant V37A 110T>C THCA-US 1 173934152 173934152 single base substitution C T missense_variant G481S 1441G>A THCA-US 1 173934152 173934152 single base substitution C T upstream_gene_variant UCEC-US 1 173907927 173907927 single base substitution C T exon_variant UCEC-US 1 173907927 173907927 single base substitution C T missense_variant D1104N 3310G>A UCEC-US 1 173907927 173907927 single base substitution C T missense_variant D1112N 3334G>A UCEC-US 1 173907947 173907947 single base substitution C A exon_variant UCEC-US 1 173907947 173907947 single base substitution C A missense_variant S1097I 3290G>T UCEC-US 1 173907947 173907947 single base substitution C A missense_variant S1105I 3314G>T UCEC-US 1 173916554 173916554 single base substitution T C missense_variant Q897R 2690A>G UCEC-US 1 173921239 173921239 single base substitution T C missense_variant K803R 2408A>G UCEC-US 1 173930222 173930222 single base substitution G A exon_variant UCEC-US 1 173930222 173930222 single base substitution G A missense_variant P788L 2363C>T UCEC-US 1 173930270 173930270 single base substitution G A exon_variant UCEC-US 1 173930270 173930270 single base substitution G A missense_variant S772F 2315C>T UCEC-US 1 173930297 173930297 single base substitution G A exon_variant UCEC-US 1 173930297 173930297 single base substitution G A missense_variant A763V 2288C>T UCEC-US 1 173930301 173930301 single base substitution T G exon_variant UCEC-US 1 173930301 173930301 single base substitution T G missense_variant M762L 2284A>C UCEC-US 1 173930366 173930366 single base substitution C T exon_variant UCEC-US 1 173930366 173930366 single base substitution C T missense_variant R740Q 2219G>A UCEC-US 1 173930905 173930905 single base substitution T C exon_variant UCEC-US 1 173930905 173930905 single base substitution T C synonymous_variant P720P 2160A>G UCEC-US 1 173931091 173931091 single base substitution C A missense_variant Q658H 1974G>T UCEC-US 1 173931091 173931091 single base substitution C A upstream_gene_variant UCEC-US 1 173933139 173933139 single base substitution C T synonymous_variant P601P 1803G>A UCEC-US 1 173933139 173933139 single base substitution C T upstream_gene_variant UCEC-US 1 173934064 173934064 single base substitution C T missense_variant R510Q 1529G>A UCEC-US 1 173934064 173934064 single base substitution C T upstream_gene_variant UCEC-US 1 173934205 173934205 single base substitution A C missense_variant L463W 1388T>G UCEC-US 1 173934205 173934205 single base substitution A C upstream_gene_variant UCEC-US 1 173934254 173934254 single base substitution G A missense_variant R447C 1339C>T UCEC-US 1 173934254 173934254 single base substitution G A upstream_gene_variant UCEC-US 1 173939754 173939754 single base substitution G T missense_variant P408H 1223C>A UCEC-US 1 173950064 173950064 single base substitution G A downstream_gene_variant UCEC-US 1 173950064 173950064 single base substitution G A synonymous_variant D284D 852C>T UCEC-US 1 173951907 173951907 single base substitution A G exon_variant UCEC-US 1 173951907 173951907 single base substitution A G synonymous_variant I242I 726T>C UCEC-US 1 173952657 173952657 single base substitution C T missense_variant R164Q 491G>A UCEC-US 1 173952657 173952657 single base substitution C T upstream_gene_variant UCEC-US 1 173952678 173952678 single base substitution G A missense_variant A157V 470C>T UCEC-US 1 173952678 173952678 single base substitution G A upstream_gene_variant UCEC-US 1 173952691 173952691 single base substitution G A missense_variant R153C 457C>T UCEC-US 1 173952691 173952691 single base substitution G A upstream_gene_variant UCEC-US 1 173952773 173952773 single base substitution A T synonymous_variant T125T 375T>A UCEC-US 1 173952773 173952773 single base substitution A T upstream_gene_variant UCEC-US 1 173953661 173953661 single base substitution A C missense_variant L110V 328T>G UCEC-US 1 173953661 173953661 single base substitution A C upstream_gene_variant UCEC-US 1 173961984 173961984 single base substitution C T missense_variant R47H 140G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D8-A1XQ-01 COSM463439 c.2668T>C p.Y890H Substitution - Missense 1:173947438-173947438 - T1240 COSM4720846 c.2062C>T p.R688* Substitution - Nonsense 1:173961865-173961865 - T3080 COSM4720849 c.188T>A p.L63H Substitution - Missense 1:173992798-173992798 - tumor_4159170 COSM1160872 c.2900G>A p.R967Q Substitution - Missense 1:173946537-173946537 - CHC1629T COSM4791850 c.1891G>A p.A631T Substitution - Missense 1:173962036-173962036 - ESCC_96 COSM5637593 c.2388G>C p.L796F Substitution - Missense 1:173952121-173952121 - C0076T COSM4140952 c.883G>A p.G295S Substitution - Missense 1:173980895-173980895 - ATL089 COSM5705032 c.3220G>A p.V1074I Substitution - Missense 1:173941296-173941296 - TCGA-AP-A0LM-01 COSM899828 c.2284A>C p.M762L Substitution - Missense 1:173961163-173961163 - TCGA-FW-A3R5-06 COSM3863578 c.2871C>T p.P957P Substitution - coding silent 1:173946566-173946566 - 025-0059-01TD COSM5418298 c.674T>C p.F225S Substitution - Missense 1:173982821-173982821 - TCGA-66-2781-01 COSM677058 c.1645G>T p.A549S Substitution - Missense 1:173964159-173964159 - HT115 COSM1223436 c.76C>T p.R26* Substitution - Nonsense 1:173992910-173992910 - TCGA-18-3409-01 COSM677062 c.2323C>T p.P775S Substitution - Missense 1:173961124-173961124 - PDA_065 COSM5001348 c.779G>A p.R260H Substitution - Missense 1:173980999-173980999 - TCGA-29-1775-01 COSM1320732 c.1221G>A p.Q407Q Substitution - coding silent 1:173972509-173972509 - TCGA-AC-A23H-01 COSM3802913 c.2083G>A p.E695K Substitution - Missense 1:173961844-173961844 - YUPAT COSM1689225 c.1801C>T p.P601S Substitution - Missense 1:173964003-173964003 - TCGA-JW-A5VL-01 COSM4846887 c.157G>C p.D53H Substitution - Missense 1:173992829-173992829 - ME032T COSM227201 c.708A>C p.Q236H Substitution - Missense 1:173982787-173982787 - LUAD_E00623 COSM354088 c.2311A>G p.I771V Substitution - Missense 1:173961136-173961136 - TCGA-AX-A0J1-01 COSM899832 c.1803G>A p.P601P Substitution - coding silent 1:173964001-173964001 - TCGA-FV-A23B-01 COSM4913990 c.2993A>G p.E998G Substitution - Missense 1:173943584-173943584 - sysucc-1370T COSM5469772 c.1288C>T p.R430C Substitution - Missense 1:173970551-173970551 - TCGA-B0-4839-01 COSM3360499 c.2683C>G p.P895A Substitution - Missense 1:173947423-173947423 - C0009T COSM4140950 c.1411C>G p.L471V Substitution - Missense 1:173965044-173965044 - TCGA-AZ-4315-01 COSM1336385 c.814G>T p.E272* Substitution - Nonsense 1:173980964-173980964 - PD4844a COSM163968 c.2126G>C p.R709T Substitution - Missense 1:173961801-173961801 - TCGA-EE-A29S-06 COSM3478558 c.529C>G p.Q177E Substitution - Missense 1:173983481-173983481 - TCGA-33-4532-01 COSM677063 c.2553G>T p.Q851H Substitution - Missense 1:173947553-173947553 - TCGA-FG-A60K-01 COSM3966047 c.2264A>T p.H755L Substitution - Missense 1:173961183-173961183 - 388 COSM3723332 c.2203G>A p.E735K Substitution - Missense 1:173961244-173961244 - HN_62421 COSM125802 c.1321G>C p.E441Q Substitution - Missense 1:173970518-173970518 - TCGA-BR-4292-01 COSM4025229 c.2974A>C p.R992R Substitution - coding silent 1:173943603-173943603 - 66 COSM5742776 c.889C>T p.R297* Substitution - Nonsense 1:173980889-173980889 - T578 COSM2075875 c.1736G>A p.R579Q Substitution - Missense 1:173964068-173964068 - TCGA-AX-A063-01 COSM899825 c.2363C>T p.P788L Substitution - Missense 1:173961084-173961084 - ATL081 COSM5705033 c.1656_1666del11 p.N553fs*48 Deletion - Frameshift 1:173964138-173964148 - SNU-175 COSM2075906 c.404G>T p.R135M Substitution - Missense 1:173983606-173983606 - TCGA-AA-3812-01 COSM293847 c.2270G>A p.R757Q Substitution - Missense 1:173961177-173961177 - C70 COSM4619401 c.230A>G p.Q77R Substitution - Missense 1:173992756-173992756 - TCGA-BG-A0MC-01 COSM899823 c.2690A>G p.Q897R Substitution - Missense 1:173947416-173947416 - TCGA-EA-A5FO-01 COSM4851808 c.2921A>T p.N974I Substitution - Missense 1:173946516-173946516 - YUBER COSM1689224 c.2435C>T p.P812L Substitution - Missense 1:173952074-173952074 - LUAD-RT-S01777 COSM381757 c.3052G>T p.G1018W Substitution - Missense 1:173943525-173943525 - HCC021T COSM5815380 c.1393C>T p.Q465* Substitution - Nonsense 1:173965062-173965062 - TCGA-BR-4292-01 COSM4025238 c.243G>A p.Q81Q Substitution - coding silent 1:173984608-173984608 - CH-50-T2 COSM5650771 c.674T>G p.F225C Substitution - Missense 1:173982821-173982821 - PT19_1 COSM5899374 c.1363C>T p.P455S Substitution - Missense 1:173965092-173965092 - TCGA-FD-A3SO-01 COSM3789109 c.511C>G p.L171V Substitution - Missense 1:173983499-173983499 - TCGA-66-2768-01 COSM677060 c.1921C>T p.H641Y Substitution - Missense 1:173962006-173962006 - TCGA-BR-6452-01 COSM4025243 c.110T>C p.V37A Substitution - Missense 1:173992876-173992876 - TCGA-CJ-4912-01 COSM463440 c.1574T>C p.I525T Substitution - Missense 1:173964881-173964881 - TCGA-D1-A17Q-01 COSM899848 c.140G>A p.R47H Substitution - Missense 1:173992846-173992846 - 19 COSM5745754 c.559G>A p.V187I Substitution - Missense 1:173983451-173983451 - 3N41-VS-3T41 COSM4981753 c.181A>G p.I61V Substitution - Missense 1:173992805-173992805 - LS411 COSM2075861 c.2496_2498delTGT p.V833delV Deletion - In frame 1:173952011-173952013 - TCGA-CD-8525-01 COSM4025232 c.1982A>G p.Q661R Substitution - Missense 1:173961945-173961945 - 587260 COSM1223433 c.2554C>T p.R852* Substitution - Nonsense 1:173947552-173947552 - TCGA-AP-A056-01 COSM899839 c.726T>C p.I242I Substitution - coding silent 1:173982769-173982769 - TCGA-AA-A00N-01 COSM277038 c.476G>A p.R159Q Substitution - Missense 1:173983534-173983534 - TCGA-BS-A0UF-01 COSM899834 c.1529G>A p.R510Q Substitution - Missense 1:173964926-173964926 - TCGA-D1-A17R-01 COSM899849 c.100G>T p.G34C Substitution - Missense 1:173992886-173992886 - TCGA-BR-4201-01 COSM4025231 c.2273G>A p.R758Q Substitution - Missense 1:173961174-173961174 - HN_62740 COSM121723 c.1455C>T p.L485L Substitution - coding silent 1:173965000-173965000 - BK0055 COSM4188113 c.1913A>G p.Y638C Substitution - Missense 1:173962014-173962014 - 1_PRE-TREATMENT COSM1720236 c.3367C>T p.Q1123* Substitution - Nonsense 1:173938756-173938756 - TCGA-B5-A11E-01 COSM899830 c.2160A>G p.P720P Substitution - coding silent 1:173961767-173961767 - ESO-582 COSM1263951 c.823A>C p.T275P Substitution - Missense 1:173980955-173980955 - Pat_41_B COSM5844549 c.1738G>A p.G580S Substitution - Missense 1:173964066-173964066 - S00936 COSM314729 c.3063A>T p.S1021S Substitution - coding silent 1:173943514-173943514 - TCGA-FD-A3B7-01 COSM1295504 c.2659A>T p.K887* Substitution - Nonsense 1:173947447-173947447 - TCGA-EB-A3Y7-01 COSM3478554 c.1675C>T p.P559S Substitution - Missense 1:173964129-173964129 - CHC1629T COSM4791850 c.1891G>A p.A631T Substitution - Missense 1:173962036-173962036 - SJRHB020A COSM3737687 c.1370G>T p.R457I Substitution - Missense 1:173965085-173965085 - Pat_45_A COSM5844546 c.3397_3398CC>TT p.P1133F Substitution - Missense 1:173938725-173938726 - TCGA-AP-A059-01 COSM899837 c.1223C>A p.P408H Substitution - Missense 1:173970616-173970616 - YUKLAB COSM1689227 c.1225C>G p.P409A Substitution - Missense 1:173970614-173970614 - 587278 COSM1223434 c.2962-1G>T p.? Unknown 1:173943616-173943616 - TCGA-B2-4098-01 COSM463439 c.2668T>C p.Y890H Substitution - Missense 1:173947438-173947438 - TCGA-CM-6171-01 COSM1336381 c.2844G>A p.M948I Substitution - Missense 1:173946593-173946593 - T3152 COSM4720844 c.2164G>A p.A722T Substitution - Missense 1:173961763-173961763 - TCGA-BR-6452-01 COSM4025234 c.1523T>C p.I508T Substitution - Missense 1:173964932-173964932 - TCGA-13-0893-01 COSM81646 c.318A>G p.L106L Substitution - coding silent 1:173984533-173984533 - 631060 COSM323019 c.3394G>T p.A1132S Substitution - Missense 1:173938729-173938729 - T263 COSM4720842 c.2203-3_2203-2insT p.? Unknown 1:173961246-173961247 - TCGA-BR-8680-01 COSM4025233 c.1527G>A p.P509P Substitution - coding silent 1:173964928-173964928 - 388 COSM3723331 c.2142G>C p.Q714H Substitution - Missense 1:173961785-173961785 - TCGA-B5-A0JR-01 COSM899843 c.375T>A p.T125T Substitution - coding silent 1:173983635-173983635 - SW620 COSM2075904 c.582C>G p.F194L Substitution - Missense 1:173983428-173983428 - sysucc-1163T COSM5458286 c.1102+10C>T p.? Unknown 1:173978478-173978478 - HCC2998 COSM1668219 c.300G>T p.K100N Substitution - Missense 1:173984551-173984551 - T368 COSM4720847 c.1054C>T p.R352* Substitution - Nonsense 1:173978536-173978536 - B34 COSM1747950 c.653C>G p.S218* Substitution - Nonsense 1:173982842-173982842 - TCGA-HU-A4H5-01 COSM4025230 c.2847A>G p.S949S Substitution - coding silent 1:173946590-173946590 - RK130_C01 COSM1626635 c.545A>G p.N182S Substitution - Missense 1:173983465-173983465 - TCGA-AZ-4315-01 COSM1336384 c.891A>C p.R297R Substitution - coding silent 1:173980887-173980887 - AOCS-091-3-0 COSM3980056 c.2481A>C p.A827A Substitution - coding silent 1:173952028-173952028 - 09-046A COSM305587 c.2220G>A p.R740R Substitution - coding silent 1:173961227-173961227 - sysucc-783T COSM5483660 c.1591A>G p.S531G Substitution - Missense 1:173964864-173964864 - TCGA-D1-A17Q-01 COSM899835 c.1388T>G p.L463W Substitution - Missense 1:173965067-173965067 - LUAD-YINHD COSM349861 c.1159G>T p.V387L Substitution - Missense 1:173972571-173972571 - B34-Tumor COSM1747950 c.653C>G p.S218* Substitution - Nonsense 1:173982842-173982842 - TCGA-D5-6927-01 COSM1336383 c.2235C>T p.P745P Substitution - coding silent 1:173961212-173961212 - TCGA-B5-A11N-01 COSM899842 c.457C>T p.R153C Substitution - Missense 1:173983553-173983553 - TCGA-B7-5816-01 COSM277038 c.476G>A p.R159Q Substitution - Missense 1:173983534-173983534 - TCGA-A5-A0VO-01 COSM899821 c.3334G>A p.D1112N Substitution - Missense 1:173938789-173938789 - J30_T COSM3976525 c.1195A>T p.S399C Substitution - Missense 1:173972535-173972535 - TCGA-30-1853-01 COSM72395 c.29A>T p.D10V Substitution - Missense 1:173992957-173992957 - B74 COSM1747948 c.3261A>T p.P1087P Substitution - coding silent 1:173938862-173938862 - LUAD-F00368 COSM367624 c.2324C>G p.P775R Substitution - Missense 1:173961123-173961123 - PCSI_0124_Pa_X COSM3376837 c.387G>C p.L129L Substitution - coding silent 1:173983623-173983623 - PTC-7C COSM4143045 c.2803C>G p.P935A Substitution - Missense 1:173946771-173946771 - TCGA-BJ-A0ZC-01 COSM3369407 c.1441G>A p.G481S Substitution - Missense 1:173965014-173965014 - J38_T COSM3976524 c.2380G>C p.E794Q Substitution - Missense 1:173952129-173952129 - cSCCP1 COSM133981 c.2210C>T p.P737L Substitution - Missense 1:173961237-173961237 - CSCC-29-T COSM4548381 c.445G>A p.E149K Substitution - Missense 1:173983565-173983565 - sysucc-1397T COSM5473239 c.587G>A p.G196E Substitution - Missense 1:173983423-173983423 - LUAD-RT-S01477 COSM377373 c.2752G>T p.G918* Substitution - Nonsense 1:173946822-173946822 - 2217527 COSM4421900 c.1222-1G>C p.? Unknown 1:173970618-173970618 - GHE0645 COSM4170567 c.634G>A p.E212K Substitution - Missense 1:173982861-173982861 - 587332 COSM1223435 c.1684C>G p.P562A Substitution - Missense 1:173964120-173964120 - TCGA-BS-A0UJ-01 COSM899824 c.2408A>G p.K803R Substitution - Missense 1:173952101-173952101 - BN41T COSM1601262 c.3252-6C>T p.? Unknown 1:173938877-173938877 - TCGA-AP-A059-01 COSM899838 c.852C>T p.D284D Substitution - coding silent 1:173980926-173980926 - ESO-2143 COSM1263950 c.3157A>G p.M1053V Substitution - Missense 1:173941359-173941359 - TCGA-D3-A1Q6-06 COSM3478557 c.700T>C p.F234L Substitution - Missense 1:173982795-173982795 - TCGA-85-6561-01 COSM677061 c.2307G>T p.K769N Substitution - Missense 1:173961140-173961140 - Pat_26_A COSM5844547 c.2370+2_2370+3delTA p.? Unknown 1:173961074-173961075 - BN41 COSM1601262 c.3252-6C>T p.? Unknown 1:173938877-173938877 - T578 COSM4720843 c.2167C>G p.P723A Substitution - Missense 1:173961760-173961760 - TCGA-DK-A1AC-01 COSM1295505 c.2566C>T p.Q856* Substitution - Nonsense 1:173947540-173947540 - 40M COSM5586397 c.2886G>A p.E962E Substitution - coding silent 1:173946551-173946551 - TCGA-EE-A3AB-06 COSM3478564 c.22T>C p.W8R Substitution - Missense 1:173992964-173992964 - C0076T COSM4140951 c.884G>A p.G295D Substitution - Missense 1:173980894-173980894 - PD9842a COSM5793981 c.3355A>C p.N1119H Substitution - Missense 1:173938768-173938768 - TCGA-FW-A3R5-06 COSM899836 c.1339C>T p.R447C Substitution - Missense 1:173965116-173965116 - TCGA-D1-A103-01 COSM899844 c.328T>G p.L110V Substitution - Missense 1:173984523-173984523 - TCGA-A8-A06T-01 COSM424632 c.2156A>G p.Y719C Substitution - Missense 1:173961771-173961771 - TCGA-D8-A1XK-01 COSM3802916 c.26C>A p.T9K Substitution - Missense 1:173992960-173992960 - TCGA-HF-7132-01 COSM4025236 c.906G>A p.Q302Q Substitution - coding silent 1:173980872-173980872 - SNU-175 COSM2075892 c.1153C>T p.R385C Substitution - Missense 1:173972577-173972577 - TCGA-H4-A2HO-01 COSM1295503 c.3319C>G p.L1107V Substitution - Missense 1:173938804-173938804 - HN_62506 COSM125801 c.2761G>T p.G921C Substitution - Missense 1:173946813-173946813 - TCGA-CG-5717-01 COSM4025235 c.1263T>C p.D421D Substitution - coding silent 1:173970576-173970576 - PD7211a COSM5774988 c.847C>A p.H283N Substitution - Missense 1:173980931-173980931 - TCGA-AO-A124-01 COSM424631 c.2628G>C p.V876V Substitution - coding silent 1:173947478-173947478 - S01020 COSM5664740 c.1000G>T p.V334F Substitution - Missense 1:173978590-173978590 - PD9570a COSM5792549 c.2777C>G p.S926C Substitution - Missense 1:173946797-173946797 - TCGA-FD-A3SN-01 COSM3789110 c.300G>A p.K100K Substitution - coding silent 1:173984551-173984551 - B74-Tumor COSM1747948 c.3261A>T p.P1087P Substitution - coding silent 1:173938862-173938862 - YUSCO COSM1689226 c.1793G>A p.G598E Substitution - Missense 1:173964011-173964011 - TCGA-EE-A3AC-06 COSM3478556 c.919C>T p.L307F Substitution - Missense 1:173980859-173980859 - T3094 COSM4720848 c.1028G>A p.R343Q Substitution - Missense 1:173978562-173978562 - ESCC_BICR_001T COSM5440576 c.867G>C p.Q289H Substitution - Missense 1:173980911-173980911 - ESCC_144 COSM5644516 c.2741A>G p.Y914C Substitution - Missense 1:173946833-173946833 - HCT15 COSM1668218 c.709G>T p.A237S Substitution - Missense 1:173982786-173982786 - TCGA-BT-A20V-01 COSM414311 c.1215G>T p.Q405H Substitution - Missense 1:173972515-173972515 - TCGA-CG-4306-01 COSM4025237 c.698G>A p.R233Q Substitution - Missense 1:173982797-173982797 - cSCCP1 COSM133982 c.904C>T p.Q302* Substitution - Nonsense 1:173980874-173980874 - 8053200 COSM3385420 c.1194C>T p.H398H Substitution - coding silent 1:173972536-173972536 - TCGA-D1-A103-01 COSM899826 c.2315C>T p.S772F Substitution - Missense 1:173961132-173961132 - TCGA-36-2545-01 COSM1320731 c.123C>G p.C41W Substitution - Missense 1:173992863-173992863 - TCGA-AN-A046-01 COSM314730 c.392G>A p.R131H Substitution - Missense 1:173983618-173983618 - PD4844a COSM163968 c.2126G>C p.R709T Substitution - Missense 1:173961801-173961801 - HCC2998 COSM1668219 c.300G>T p.K100N Substitution - Missense 1:173984551-173984551 - TCGA-G4-6588-01 COSM677057 c.66C>T p.D22D Substitution - coding silent 1:173992920-173992920 - TCGA-AX-A0J1-01 COSM899827 c.2288C>T p.A763V Substitution - Missense 1:173961159-173961159 - J76_T COSM3976523 c.3111G>C p.G1037G Substitution - coding silent 1:173943466-173943466 - Pat_45_B COSM5844548 c.1892C>T p.A631V Substitution - Missense 1:173962035-173962035 - PCSI_0090_Pa_X COSM424632 c.2156A>G p.Y719C Substitution - Missense 1:173961771-173961771 - ESO-1059 COSM1263949 c.881C>G p.A294G Substitution - Missense 1:173980897-173980897 - TCGA-AX-A06H-01 COSM899833 c.1705C>A p.P569T Substitution - Missense 1:173964099-173964099 - TCGA-EE-A3J7-06 COSM3863579 c.1647C>G p.A549A Substitution - coding silent 1:173964157-173964157 - TCGA-AP-A051-01 COSM899841 c.470C>T p.A157V Substitution - Missense 1:173983540-173983540 - TCGA-AA-A00N-01 COSM277037 c.2110T>A p.Y704N Substitution - Missense 1:173961817-173961817 - B96 COSM1747949 c.2388G>A p.L796L Substitution - coding silent 1:173952121-173952121 - 3101B7_035_T COSM5041127 c.1838A>G p.Y613C Substitution - Missense 1:173962089-173962089 - NCI-H747 COSM2075846 c.3341A>G p.E1114G Substitution - Missense 1:173938782-173938782 - TCGA-A8-A08B-01 COSM424633 c.1324G>A p.E442K Substitution - Missense 1:173970515-173970515 - S00936 COSM314730 c.392G>A p.R131H Substitution - Missense 1:173983618-173983618 - TCGA-AP-A051-01 COSM899822 c.3314G>T p.S1105I Substitution - Missense 1:173938809-173938809 - TCGA-D1-A16F-01 COSM899829 c.2219G>A p.R740Q Substitution - Missense 1:173961228-173961228 - pfg103T COSM4763605 c.625C>A p.L209M Substitution - Missense 1:173982870-173982870 - TCGA-B5-A11E-01 COSM899840 c.491G>A p.R164Q Substitution - Missense 1:173983519-173983519 - TCGA-AA-3715-01 COSM270015 c.1295C>T p.A432V Substitution - Missense 1:173970544-173970544 - 587376 COSM1223436 c.76C>T p.R26* Substitution - Nonsense 1:173992910-173992910 - ESO-859 COSM1240026 c.778C>T p.R260C Substitution - Missense 1:173981000-173981000 - IPMN21 COSM248854 c.2018G>A p.R673H Substitution - Missense 1:173961909-173961909 - HN_62756 COSM121722 c.1518G>A p.Q506Q Substitution - coding silent 1:173964937-173964937 - LUAD-5V8LT COSM400901 c.1771G>A p.V591I Substitution - Missense 1:173964033-173964033 - TCGA-22-5485-01 COSM677064 c.3292A>T p.S1098C Substitution - Missense 1:173938831-173938831 - TCGA-F5-6814-01 COSM3418364 c.1019C>T p.A340V Substitution - Missense 1:173978571-173978571 - CSCC-7-T COSM4466335 c.1429C>T p.L477F Substitution - Missense 1:173965026-173965026 - TCGA-EE-A3JI-06 COSM3478555 c.1274G>A p.R425K Substitution - Missense 1:173970565-173970565 - B96-Tumor COSM1747949 c.2388G>A p.L796L Substitution - coding silent 1:173952121-173952121 - HCT-15 COSM1668218 c.709G>T p.A237S Substitution - Missense 1:173982786-173982786 - 19 COSM5745753 c.673T>C p.F225L Substitution - Missense 1:173982822-173982822 - 8_tFL COSM4170567 c.634G>A p.E212K Substitution - Missense 1:173982861-173982861 - ME009T COSM222591 c.2003C>T p.S668F Substitution - Missense 1:173961924-173961924 - 8057783 COSM3385419 c.2673G>T p.Q891H Substitution - Missense 1:173947433-173947433 - 8057783 COSM3385418 c.2674G>T p.G892C Substitution - Missense 1:173947432-173947432 - TCGA-60-2709-01 COSM677057 c.66C>T p.D22D Substitution - coding silent 1:173992920-173992920 - TCGA-A5-A0GP-01 COSM899836 c.1339C>T p.R447C Substitution - Missense 1:173965116-173965116 - 16246 COSM5616669 c.2022A>T p.R674R Substitution - coding silent 1:173961905-173961905 - TCGA-AA-3712-01 COSM1336382 c.2703T>C p.P901P Substitution - coding silent 1:173947403-173947403 - 479 COSM4439017 c.1264A>C p.M422L Substitution - Missense 1:173970575-173970575 - TCGA-AP-A051-01 COSM899831 c.1974G>T p.Q658H Substitution - Missense 1:173961953-173961953 - TCGA-BF-A1PZ-01 COSM4399403 c.2324C>T p.P775L Substitution - Missense 1:173961123-173961123 - CSCC-4-T COSM4467215 c.1477C>T p.L493L Substitution - coding silent 1:173964978-173964978 - TCGA-EE-A2GM-06 COSM3478560 c.294A>C p.E98D Substitution - Missense 1:173984557-173984557 - PT48 COSM5930697 c.2872C>T p.L958F Substitution - Missense 1:173946565-173946565 - TCGA-FS-A1ZA-06 COSM3478559 c.391C>G p.R131G Substitution - Missense 1:173983619-173983619 - BD124T COSM5491231 c.1162G>A p.V388I Substitution - Missense 1:173972568-173972568 - SC_9100 COSM5551200 c.1284C>T p.C428C Substitution - coding silent 1:173970555-173970555 - OSCC-GB_00740111 COSM4891024 c.295G>A p.A99T Substitution - Missense 1:173984556-173984556 - BD72T COSM5511594 c.2217C>T p.S739S Substitution - coding silent 1:173961230-173961230 - TCGA-AM-5821-01 COSM3750621 c.437T>C p.V146A Substitution - Missense 1:173983573-173983573 - T155 COSM1176712 c.479C>A p.S160Y Substitution - Missense 1:173983531-173983531 - P04-1421 COSM246990 c.2913G>T p.Q971H Substitution - Missense 1:173946524-173946524 - TCGA-AA-A010-01 COSM284522 c.2840C>A p.S947Y Substitution - Missense 1:173946597-173946597 - 8067240 COSM3771526 c.2953G>T p.G985* Substitution - Nonsense 1:173946484-173946484 - TCGA-39-5016-01 COSM677059 c.1867C>T p.R623C Substitution - Missense 1:173962060-173962060 - TCGA-FD-A3SM-01 COSM3789108 c.2128G>C p.E710Q Substitution - Missense 1:173961799-173961799 - LUAD-S01345 COSM397076 c.3229G>T p.E1077* Substitution - Nonsense 1:173941287-173941287 - T1743 COSM4720845 c.2146G>A p.E716K Substitution - Missense 1:173961781-173961781 - 8030232 COSM3771527 c.1015A>G p.I339V Substitution - Missense 1:173978575-173978575 - J74_T COSM3976528 c.118A>T p.M40L Substitution - Missense 1:173992868-173992868 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.30258 1q25.1 609424

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AG - IntronicDeletion . c.231+54_231+55delCT 1 173961838 CM A G IntronicSNV . c.232-331T>C 1 173954088 CLL A G Missense p.F234L c.700T>C 1 173951933 CM A G Missense p.I525T c.1574T>C 1 173934019 RCCC A G Missense p.W8R c.22T>C 1 173962102 CM A G Synonymous p.D421D c.1263T>C 1 173939714 STAD A T Synonymous p.T125T c.375T>A 1 173952773 UCEC C A Missense p.A1132S c.3394G>T 1 173907867 SCLC C A Missense p.A549S c.1645G>T 1 173933297 LUSC C A Missense p.D1118Y c.3352G>T 1 173907909 HNSC C A Missense p.G921C c.2761G>T 1 173915951 HNSC C A Missense p.K769N c.2307G>T 1 173930278 LUSC C A Missense p.Q325H c.975G>T 1 173947753 LUAD C A Missense p.Q405H c.1215G>T 1 173941653 BLCA C A Missense p.Q851H c.2553G>T 1 173916691 LUSC C A Missense p.R560S c.1680G>T 1 173933262 LUAD C A Missense p.V66L c.196G>T 1 173961928 HNSC C A Nonsense p.E163* c.487G>T 1 173952661 HNSC C A Nonsense p.E684* c.2050G>T 1 173931015 CM C A SpliceAcceptorSNV . c.232-1G>T 1 173953758 LUAD C G Missense p.E212Q c.634G>C 1 173951999 HNSC C G Missense p.E441Q c.1321G>C 1 173939656 HNSC C G Missense p.R709T c.2126G>C 1 173930939 BRCA C G Missense p.S1026T c.3077G>C 1 173912638 HNSC C G Missense p.W1016C c.3048G>C 1 173912667 HNSC C G Synonymous p.V876V c.2628G>C 1 173916616 BRCA C T 3-UTRSNV . c.3399+51G>A 1 173907811 CM C T Missense p.D1112N c.3334G>A 1 173907927 UCEC C T Missense p.E442K c.1324G>A 1 173939653 BRCA C T Missense p.G481S c.1441G>A 1 173934152 THCA C T Missense p.G985E c.2954G>A 1 173915621 LUAD C T Missense p.R131H c.392G>A 1 173952756 SCLC C T Missense p.R159Q c.476G>A 1 173952672 STAD C T Missense p.R233Q c.698G>A 1 173951935 STAD C T Missense p.R425K c.1274G>A 1 173939703 CM C T Missense p.R740Q c.2219G>A 1 173930366 UCEC C T Missense p.R757Q c.2270G>A 1 173930315 COREAD C T Missense p.R758Q c.2273G>A 1 173930312 STAD C T Missense p.R967Q c.2900G>A 1 173915675 DLBCL C T Missense p.S433N c.1298G>A 1 173939679 LUAD C T Synonymous p.Q506Q c.1518G>A 1 173934075 HNSC C T Synonymous p.Q81Q c.243G>A 1 173953746 STAD GAGTCATGTTCTC - Frameshift p.R281Pfs*3 c.842_854delGAGAACATGACTC 1 173950062 RCCC G A IntronicSNV . c.593-68C>T 1 173952108 CM G A IntronicSNV . c.593-69C>T 1 173952109 CM G A Missense p.H641Y c.1921C>T 1 173931144 LUSC G A Missense p.H920Y c.2758C>T 1 173915954 HNSC G A Missense p.L307F c.919C>T 1 173949997 CM G A Missense p.P737S c.2209C>T 1 173930376 CM G A Missense p.P775L c.2324C>T 1 173930261 CM G A Missense p.P784L c.2351C>T 1 173930234 LUAD G A Missense p.P788L c.2363C>T 1 173930222 UCEC G A Missense p.R260C c.778C>T 1 173950138 ESCA G A Missense p.R447C c.1339C>T 1 173934254 UCEC G A Missense p.R623C c.1867C>T 1 173931198 LUSC G A Missense p.S548F c.1643C>T 1 173933299 CM G A Missense p.S668F c.2003C>T 1 173931062 CM G A Synonymous p.D22D c.66C>T 1 173962058 LUSC G A Synonymous p.L485L c.1455C>T 1 173934138 HNSC G A Synonymous p.N652N c.1956C>T 1 173931109 LUAD G C 5-UTRSNV . c.1-23C>G 1 173962146 HC G C Missense p.A294G c.881C>G 1 173950035 ESCA G C Missense p.L1107V c.3319C>G 1 173907942 BLCA G C Missense p.P895A c.2683C>G 1 173916561 RCCC G C Missense p.Q177E c.529C>G 1 173952619 CM G C Missense p.R131G c.391C>G 1 173952757 CM G C Synonymous p.A549A c.1647C>G 1 173933295 CM G T Missense p.H641N c.1921C>A 1 173931144 CM G T Missense p.L493M c.1477C>A 1 173934116 HNSC G T Missense p.P679Q c.2036C>A 1 173931029 CM G T Missense p.R623S c.1867C>A 1 173931198 CM T A Missense p.D10V c.29A>T 1 173962095 OV T A Missense p.S1098C c.3292A>T 1 173907969 LUSC T A Nonsense p.K887* c.2659A>T 1 173916585 BLCA - TA SpliceAcceptorInsertion . c.1103-3_1103-2insTA 1 173941767 PRAD T A Synonymous p.R674R c.2022A>T 1 173931043 NSCLC T A Synonymous p.S1021S c.3063A>T 1 173912652 SCLC T C Missense p.M1053V c.3157A>G 1 173910497 ESCA T C Missense p.N182S c.545A>G 1 173952603 HC T C Missense p.Q897R c.2690A>G 1 173916554 UCEC T C Missense p.Y719C c.2156A>G 1 173930909 BRCA T C Synonymous p.L106L c.318A>G 1 173953671 OV T G Missense p.E98D c.294A>C 1 173953695 CM T G Missense p.Q236H c.708A>C 1 173951925 CM T G Synonymous p.R992R c.2974A>C 1 173912741 STAD T - IntronicDeletion . c.1221+53delA 1 173941594 STAD