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 BLCA 1 173703360 173703360 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr1:173703360G>A c.532G>A c.(532-534)Gac>Aac p.D178N BLCA 1 173754326 173754326 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr1:173754326C>T c.1771C>T c.(1771-1773)Cgg>Tgg p.R591W BRCA 1 173703245 173703245 + Missense_Mutation SNP G G T TCGA-AO-A03R-01A-21W-A050-09 TCGA-AO-A03R-10A-01W-A055-09 g.chr1:173703245G>T c.417G>T c.(415-417)caG>caT p.Q139H BRCA 1 173703348 173703349 + Frame_Shift_Del DEL CG CG - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 g.chr1:173703348_173703349delCG c.520_521delCG c.(520-522)cggfs p.R174fs BRCA 1 173725095 173725095 + Silent SNP A A G TCGA-A1-A0SE-01A-11D-A099-09 TCGA-A1-A0SE-10A-03D-A099-09 g.chr1:173725095A>G c.885A>G c.(883-885)ctA>ctG p.L295L CESC 1 173735316 173735316 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr1:173735316G>A c.1183G>A c.(1183-1185)Gat>Aat p.D395N CESC 1 173743497 173743497 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr1:173743497G>T c.1349G>T c.(1348-1350)aGa>aTa p.R450I CHOL 1 173722361 173722361 + Missense_Mutation SNP C C T TCGA-W5-AA30-01A-31D-A417-09 TCGA-W5-AA30-10A-01D-A41A-09 g.chr1:173722361C>T c.766C>T c.(766-768)Cat>Tat p.H256Y CHOL 1 173743534 173743534 + Silent SNP A A G TCGA-3X-AAVE-01A-11D-A417-09 TCGA-3X-AAVE-10A-01D-A41A-09 g.chr1:173743534A>G c.1386A>G c.(1384-1386)ttA>ttG p.L462L COAD 1 173685206 173685206 + Splice_Site SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:173685206G>T c.e2+1 COAD 1 173702953 173702953 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:173702953G>A c.125G>A c.(124-126)cGc>cAc p.R42H COAD 1 173720943 173720943 + Missense_Mutation SNP A A G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr1:173720943A>G c.638A>G c.(637-639)cAa>cGa p.Q213R COAD 1 173725076 173725076 + Missense_Mutation SNP A A C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:173725076A>C c.866A>C c.(865-867)gAg>gCg p.E289A COAD 1 173726125 173726125 + Missense_Mutation SNP G G C TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chr1:173726125G>C c.978G>C c.(976-978)tgG>tgC p.W326C COAD 1 173726160 173726160 + Missense_Mutation SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr1:173726160A>G c.1013A>G c.(1012-1014)tAt>tGt p.Y338C COAD 1 173726263 173726263 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:173726263C>T c.1116C>T c.(1114-1116)ggC>ggT p.G372G COAD 1 173743494 173743494 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:173743494G>A c.1346G>A c.(1345-1347)aGa>aAa p.R449K COAD 1 173743506 173743506 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:173743506T>C c.1358T>C c.(1357-1359)gTg>gCg p.V453A COAD 1 173743506 173743506 + Missense_Mutation SNP T T C TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr1:173743506T>C c.1358T>C c.(1357-1359)gTg>gCg p.V453A COAD 1 173744969 173744969 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:173744969A>G c.1626A>G c.(1624-1626)tcA>tcG p.S542S COAD 1 173754326 173754326 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:173754326C>T c.1771C>T c.(1771-1773)Cgg>Tgg p.R591W COADREAD 1 173685202 173685202 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:173685202G>A c.20G>A c.(19-21)cGc>cAc p.R7H COADREAD 1 173685206 173685206 + Splice_Site SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:173685206G>T c.e2+1 COADREAD 1 173702953 173702953 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:173702953G>A c.125G>A c.(124-126)cGc>cAc p.R42H COADREAD 1 173720943 173720943 + Missense_Mutation SNP A A G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr1:173720943A>G c.638A>G c.(637-639)cAa>cGa p.Q213R COADREAD 1 173720985 173720985 + Missense_Mutation SNP G G A TCGA-AG-3881-01A-01W-0899-10 TCGA-AG-3881-10A-01W-0901-10 g.chr1:173720985G>A c.680G>A c.(679-681)aGt>aAt p.S227N COADREAD 1 173725076 173725076 + Missense_Mutation SNP A A C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:173725076A>C c.866A>C c.(865-867)gAg>gCg p.E289A COADREAD 1 173726125 173726125 + Missense_Mutation SNP G G C TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chr1:173726125G>C c.978G>C c.(976-978)tgG>tgC p.W326C COADREAD 1 173726160 173726160 + Missense_Mutation SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr1:173726160A>G c.1013A>G c.(1012-1014)tAt>tGt p.Y338C COADREAD 1 173726263 173726263 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:173726263C>T c.1116C>T c.(1114-1116)ggC>ggT p.G372G COADREAD 1 173743494 173743494 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:173743494G>A c.1346G>A c.(1345-1347)aGa>aAa p.R449K COADREAD 1 173743506 173743506 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:173743506T>C c.1358T>C c.(1357-1359)gTg>gCg p.V453A COADREAD 1 173743506 173743506 + Missense_Mutation SNP T T C TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr1:173743506T>C c.1358T>C c.(1357-1359)gTg>gCg p.V453A COADREAD 1 173743565 173743565 + Missense_Mutation SNP C C G TCGA-AG-3598-01A-01W-0833-10 TCGA-AG-3598-10A-01W-0833-10 g.chr1:173743565C>G c.1417C>G c.(1417-1419)Cct>Gct p.P473A COADREAD 1 173744969 173744969 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:173744969A>G c.1626A>G c.(1624-1626)tcA>tcG p.S542S COADREAD 1 173754326 173754326 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:173754326C>T c.1771C>T c.(1771-1773)Cgg>Tgg p.R591W DLBC 1 173725101 173725101 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:173725101G>A c.891G>A c.(889-891)ccG>ccA p.P297P DLBC 1 173735378 173735378 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:173735378T>C c.1245T>C c.(1243-1245)ctT>ctC p.L415L ESCA 1 173703092 173703092 + Silent SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr1:173703092C>A c.264C>A c.(262-264)gcC>gcA p.A88A ESCA 1 173744844 173744844 + Missense_Mutation SNP G G C TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chr1:173744844G>C c.1501G>C c.(1501-1503)Ggc>Cgc p.G501R ESCA 1 173751271 173751271 + Missense_Mutation SNP G G T TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 g.chr1:173751271G>T c.1648G>T c.(1648-1650)Gca>Tca p.A550S GBM 1 173744944 173744944 + Missense_Mutation SNP G G T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 g.chr1:173744944G>T c.1601G>T c.(1600-1602)tGg>tTg p.W534L GBMLGG 1 173721016 173721016 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:173721016C>A c.711C>A c.(709-711)gcC>gcA p.A237A GBMLGG 1 173725148 173725148 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:173725148C>A c.938C>A c.(937-939)cCt>cAt p.P313H GBMLGG 1 173726268 173726268 + Missense_Mutation SNP A A T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 g.chr1:173726268A>T c.1121A>T c.(1120-1122)gAt>gTt p.D374V GBMLGG 1 173744789 173744789 + Silent SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:173744789T>A c.1446T>A c.(1444-1446)ccT>ccA p.P482P GBMLGG 1 173744944 173744944 + Missense_Mutation SNP G G T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 g.chr1:173744944G>T c.1601G>T c.(1600-1602)tGg>tTg p.W534L HNSC 1 173744918 173744918 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 g.chr1:173744918G>C c.1575G>C c.(1573-1575)gaG>gaC p.E525D KIPAN 1 173703125 173703125 + Silent SNP A A T TCGA-BP-5199-01A-01D-1429-08 TCGA-BP-5199-11A-01D-1429-08 g.chr1:173703125A>T c.297A>T c.(295-297)ggA>ggT p.G99G KIPAN 1 173703270 173703270 + Missense_Mutation SNP C C A TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr1:173703270C>A c.442C>A c.(442-444)Ctc>Atc p.L148I KIPAN 1 173754361 173754361 + Silent SNP A A G TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr1:173754361A>G c.1806A>G c.(1804-1806)acA>acG p.T602T KIRC 1 173703125 173703125 + Silent SNP A A T TCGA-BP-5199-01A-01D-1429-08 TCGA-BP-5199-11A-01D-1429-08 g.chr1:173703125A>T c.297A>T c.(295-297)ggA>ggT p.G99G KIRP 1 173703270 173703270 + Missense_Mutation SNP C C A TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr1:173703270C>A c.442C>A c.(442-444)Ctc>Atc p.L148I KIRP 1 173754361 173754361 + Silent SNP A A G TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr1:173754361A>G c.1806A>G c.(1804-1806)acA>acG p.T602T LGG 1 173721016 173721016 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:173721016C>A c.711C>A c.(709-711)gcC>gcA p.A237A LGG 1 173725148 173725148 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:173725148C>A c.938C>A c.(937-939)cCt>cAt p.P313H LGG 1 173726268 173726268 + Missense_Mutation SNP A A T TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 g.chr1:173726268A>T c.1121A>T c.(1120-1122)gAt>gTt p.D374V LGG 1 173744789 173744789 + Silent SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:173744789T>A c.1446T>A c.(1444-1446)ccT>ccA p.P482P LIHC 1 173720986 173720986 + Silent SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr1:173720986T>C c.681T>C c.(679-681)agT>agC p.S227S LIHC 1 173754356 173754356 + Missense_Mutation SNP A A G TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr1:173754356A>G c.1801A>G c.(1801-1803)Atg>Gtg p.M601V LUAD 1 173702931 173702931 + Missense_Mutation SNP G G A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:173702931G>A c.103G>A c.(103-105)Gaa>Aaa p.E35K LUAD 1 173703050 173703050 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 g.chr1:173703050G>A c.222G>A c.(220-222)gtG>gtA p.V74V LUAD 1 173703134 173703134 + Silent SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr1:173703134A>T c.306A>T c.(304-306)gcA>gcT p.A102A LUAD 1 173703135 173703135 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr1:173703135G>T c.307G>T c.(307-309)Gag>Tag p.E103* LUAD 1 173703142 173703142 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr1:173703142G>T c.314G>T c.(313-315)cGt>cTt p.R105L LUAD 1 173703194 173703194 + Silent SNP G G T TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr1:173703194G>T c.366G>T c.(364-366)ctG>ctT p.L122L LUAD 1 173703228 173703228 + Missense_Mutation SNP G G A TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 g.chr1:173703228G>A c.400G>A c.(400-402)Gaa>Aaa p.E134K LUAD 1 173703376 173703376 + Missense_Mutation SNP G G T TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr1:173703376G>T c.548G>T c.(547-549)cGt>cTt p.R183L LUAD 1 173703396 173703396 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:173703396G>C c.568G>C c.(568-570)Gac>Cac p.D190H LUAD 1 173720961 173720961 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 g.chr1:173720961C>G c.656C>G c.(655-657)tCc>tGc p.S219C LUAD 1 173726252 173726252 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr1:173726252G>A c.1105G>A c.(1105-1107)Gca>Aca p.A369T LUAD 1 173735414 173735414 + Silent SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 g.chr1:173735414C>T c.1281C>T c.(1279-1281)ctC>ctT p.L427L LUAD 1 173735426 173735426 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr1:173735426G>T c.1293G>T c.(1291-1293)gaG>gaT p.E431D LUAD 1 173751319 173751319 + Missense_Mutation SNP A A G TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 g.chr1:173751319A>G c.1696A>G c.(1696-1698)Aca>Gca p.T566A LUSC 1 173703000 173703000 + Missense_Mutation SNP A A T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 g.chr1:173703000A>T c.172A>T c.(172-174)Att>Ttt p.I58F LUSC 1 173721005 173721005 + Missense_Mutation SNP G G T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr1:173721005G>T c.700G>T c.(700-702)Gca>Tca p.A234S LUSC 1 173735424 173735424 + Missense_Mutation SNP G G C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr1:173735424G>C c.1291G>C c.(1291-1293)Gag>Cag p.E431Q OV 1 173743507 173743507 + Silent SNP G G C TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 g.chr1:173743507G>C c.1359G>C c.(1357-1359)gtG>gtC p.V453V PAAD 1 173722355 173722355 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:173722355C>T c.760C>T c.(760-762)Ctg>Ttg p.L254L PAAD 1 173744779 173744779 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:173744779G>A c.1436G>A c.(1435-1437)cGt>cAt p.R479H PAAD 1 173744849 173744849 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:173744849T>C c.1506T>C c.(1504-1506)tgT>tgC p.C502C PRAD 1 173721044 173721044 + Missense_Mutation SNP C C A TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 g.chr1:173721044C>A c.739C>A c.(739-741)Cgt>Agt p.R247S READ 1 173685202 173685202 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:173685202G>A c.20G>A c.(19-21)cGc>cAc p.R7H READ 1 173720985 173720985 + Missense_Mutation SNP G G A TCGA-AG-3881-01A-01W-0899-10 TCGA-AG-3881-10A-01W-0901-10 g.chr1:173720985G>A c.680G>A c.(679-681)aGt>aAt p.S227N READ 1 173743565 173743565 + Missense_Mutation SNP C C G TCGA-AG-3598-01A-01W-0833-10 TCGA-AG-3598-10A-01W-0833-10 g.chr1:173743565C>G c.1417C>G c.(1417-1419)Cct>Gct p.P473A SKCM 1 173702865 173702865 + Nonsense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr1:173702865C>T c.37C>T c.(37-39)Cga>Tga p.R13* SKCM 1 173702872 173702872 + Missense_Mutation SNP G G A TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr1:173702872G>A c.44G>A c.(43-45)gGa>gAa p.G15E SKCM 1 173702945 173702945 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr1:173702945A>T c.117A>T c.(115-117)caA>caT p.Q39H SKCM 1 173702979 173702979 + Missense_Mutation SNP C C T TCGA-ER-A2ND-06A-11D-A196-08 TCGA-ER-A2ND-10A-01D-A198-08 g.chr1:173702979C>T c.151C>T c.(151-153)Cct>Tct p.P51S SKCM 1 173703100 173703100 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr1:173703100C>T c.272C>T c.(271-273)cCc>cTc p.P91L SKCM 1 173703100 173703100 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr1:173703100C>T c.272C>T c.(271-273)cCc>cTc p.P91L SKCM 1 173703375 173703375 + Missense_Mutation SNP C C T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr1:173703375C>T c.547C>T c.(547-549)Cgt>Tgt p.R183C SKCM 1 173725152 173725152 + Silent SNP C C T TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr1:173725152C>T c.942C>T c.(940-942)atC>atT p.I314I SKCM 1 173744862 173744862 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 g.chr1:173744862G>A c.1519G>A c.(1519-1521)Gac>Aac p.D507N SKCM 1 173744919 173744919 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:173744919A>G c.1576A>G c.(1576-1578)Aga>Gga p.R526G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 173703360 173703360 single base substitution G A downstream_gene_variant BLCA-US 1 173703360 173703360 single base substitution G A exon_variant BLCA-US 1 173703360 173703360 single base substitution G A intron_variant BLCA-US 1 173703360 173703360 single base substitution G A missense_variant D178N 532G>A BLCA-US 1 173754326 173754326 single base substitution C T exon_variant BLCA-US 1 173754326 173754326 single base substitution C T missense_variant R402W 1204C>T BLCA-US 1 173754326 173754326 single base substitution C T missense_variant R591W 1771C>T BOCA-FR 1 173724795 173724795 single base substitution G C intron_variant BRCA-EU 1 173679476 173679476 single base substitution G A upstream_gene_variant BRCA-EU 1 173679477 173679477 single base substitution C A upstream_gene_variant BRCA-EU 1 173679728 173679728 single base substitution G A upstream_gene_variant BRCA-EU 1 173680254 173680254 single base substitution G C upstream_gene_variant BRCA-EU 1 173680606 173680606 single base substitution G T upstream_gene_variant BRCA-EU 1 173681375 173681375 single base substitution G A upstream_gene_variant BRCA-EU 1 173681792 173681792 single base substitution A C upstream_gene_variant BRCA-EU 1 173684859 173684859 single base substitution A G intron_variant BRCA-EU 1 173685047 173685047 single base substitution A G intron_variant BRCA-EU 1 173685905 173685905 single base substitution G C intron_variant BRCA-EU 1 173686097 173686097 single base substitution G A intron_variant BRCA-EU 1 173687045 173687045 single base substitution T C intron_variant BRCA-EU 1 173687627 173687627 single base substitution T A intron_variant BRCA-EU 1 173687904 173687904 single base substitution C T intron_variant BRCA-EU 1 173689576 173689576 single base substitution G C intron_variant BRCA-EU 1 173689711 173689711 single base substitution G C intron_variant BRCA-EU 1 173690171 173690171 single base substitution G A intron_variant BRCA-EU 1 173692029 173692029 deletion of <=200bp A - intron_variant BRCA-EU 1 173692847 173692847 single base substitution C T intron_variant BRCA-EU 1 173693823 173693823 single base substitution A G intron_variant BRCA-EU 1 173694830 173694830 single base substitution C T intron_variant BRCA-EU 1 173695265 173695265 single base substitution C T intron_variant BRCA-EU 1 173696018 173696018 single base substitution C T intron_variant BRCA-EU 1 173696149 173696149 single base substitution G C intron_variant BRCA-EU 1 173696407 173696407 single base substitution G A intron_variant BRCA-EU 1 173696548 173696548 single base substitution G A intron_variant BRCA-EU 1 173696673 173696673 single base substitution A G intron_variant BRCA-EU 1 173696690 173696690 single base substitution C T intron_variant BRCA-EU 1 173697072 173697072 single base substitution T C intron_variant BRCA-EU 1 173698158 173698158 single base substitution C T intron_variant BRCA-EU 1 173698267 173698267 single base substitution A T intron_variant BRCA-EU 1 173698975 173698975 single base substitution C A intron_variant BRCA-EU 1 173699813 173699813 single base substitution A G intron_variant BRCA-EU 1 173700411 173700411 single base substitution C A intron_variant BRCA-EU 1 173701458 173701458 single base substitution A T intron_variant BRCA-EU 1 173702090 173702090 insertion of <=200bp - ATG intron_variant BRCA-EU 1 173702217 173702217 single base substitution G A intron_variant BRCA-EU 1 173703282 173703282 single base substitution G C downstream_gene_variant BRCA-EU 1 173703282 173703282 single base substitution G C exon_variant BRCA-EU 1 173703282 173703282 single base substitution G C intron_variant BRCA-EU 1 173703282 173703282 single base substitution G C missense_variant E152Q 454G>C BRCA-EU 1 173703478 173703478 single base substitution T C downstream_gene_variant BRCA-EU 1 173703478 173703478 single base substitution T C exon_variant BRCA-EU 1 173703478 173703478 single base substitution T C intron_variant BRCA-EU 1 173703672 173703672 single base substitution T A downstream_gene_variant BRCA-EU 1 173703672 173703672 single base substitution T A intron_variant BRCA-EU 1 173706149 173706149 single base substitution C T downstream_gene_variant BRCA-EU 1 173706149 173706149 single base substitution C T intron_variant BRCA-EU 1 173706891 173706891 single base substitution G T downstream_gene_variant BRCA-EU 1 173706891 173706891 single base substitution G T intron_variant BRCA-EU 1 173707784 173707784 single base substitution T G downstream_gene_variant BRCA-EU 1 173707784 173707784 single base substitution T G intron_variant BRCA-EU 1 173708133 173708133 single base substitution G A downstream_gene_variant BRCA-EU 1 173708133 173708133 single base substitution G A intron_variant BRCA-EU 1 173708220 173708220 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 173708220 173708220 insertion of <=200bp - T intron_variant BRCA-EU 1 173708976 173708976 single base substitution C T intron_variant BRCA-EU 1 173709609 173709609 single base substitution G C intron_variant BRCA-EU 1 173709718 173709718 single base substitution G C intron_variant BRCA-EU 1 173709958 173709958 single base substitution C A intron_variant BRCA-EU 1 173710149 173710149 single base substitution C T intron_variant BRCA-EU 1 173712200 173712200 deletion of <=200bp A - intron_variant BRCA-EU 1 173712674 173712674 insertion of <=200bp - T intron_variant BRCA-EU 1 173713106 173713106 single base substitution G C intron_variant BRCA-EU 1 173714105 173714105 single base substitution T C intron_variant BRCA-EU 1 173717037 173717037 single base substitution A G intron_variant BRCA-EU 1 173717241 173717241 single base substitution C A intron_variant BRCA-EU 1 173718805 173718805 single base substitution C T intron_variant BRCA-EU 1 173721786 173721786 single base substitution G C intron_variant BRCA-EU 1 173722541 173722541 deletion of <=200bp G - intron_variant BRCA-EU 1 173723646 173723646 single base substitution C G intron_variant BRCA-EU 1 173724639 173724639 single base substitution G A intron_variant BRCA-EU 1 173726156 173726156 single base substitution C T stop_gained R148* 442C>T BRCA-EU 1 173726156 173726156 single base substitution C T stop_gained R337* 1009C>T BRCA-EU 1 173727849 173727849 single base substitution G C intron_variant BRCA-EU 1 173728050 173728050 single base substitution G A intron_variant BRCA-EU 1 173728285 173728285 single base substitution G C intron_variant BRCA-EU 1 173730402 173730402 single base substitution G C intron_variant BRCA-EU 1 173730886 173730886 single base substitution G A intron_variant BRCA-EU 1 173731268 173731268 single base substitution G A intron_variant BRCA-EU 1 173731389 173731389 single base substitution A T intron_variant BRCA-EU 1 173733164 173733164 single base substitution T C intron_variant BRCA-EU 1 173734036 173734036 single base substitution T C intron_variant BRCA-EU 1 173735980 173735980 single base substitution G C intron_variant BRCA-EU 1 173736055 173736055 single base substitution G T intron_variant BRCA-EU 1 173736073 173736073 single base substitution C G intron_variant BRCA-EU 1 173736149 173736149 single base substitution C G intron_variant BRCA-EU 1 173736647 173736647 single base substitution G T intron_variant BRCA-EU 1 173737980 173737980 single base substitution C T intron_variant BRCA-EU 1 173739902 173739902 single base substitution C G intron_variant BRCA-EU 1 173740020 173740020 single base substitution A C intron_variant BRCA-EU 1 173741619 173741619 single base substitution A T intron_variant BRCA-EU 1 173741952 173741952 single base substitution A G intron_variant BRCA-EU 1 173742422 173742422 single base substitution T A intron_variant BRCA-EU 1 173742424 173742424 single base substitution T C intron_variant BRCA-EU 1 173742540 173742540 single base substitution G A intron_variant BRCA-EU 1 173743126 173743126 single base substitution C T intron_variant BRCA-EU 1 173743169 173743169 single base substitution A G intron_variant BRCA-EU 1 173743591 173743591 single base substitution A G intron_variant BRCA-EU 1 173743682 173743682 single base substitution A G intron_variant BRCA-EU 1 173744628 173744628 single base substitution G C intron_variant BRCA-EU 1 173744708 173744708 single base substitution A G intron_variant BRCA-EU 1 173745198 173745198 single base substitution G A intron_variant BRCA-EU 1 173747274 173747274 single base substitution C G intron_variant BRCA-EU 1 173747274 173747274 single base substitution C G upstream_gene_variant BRCA-EU 1 173747399 173747399 single base substitution G A intron_variant BRCA-EU 1 173747399 173747399 single base substitution G A upstream_gene_variant BRCA-EU 1 173748386 173748386 single base substitution C T intron_variant BRCA-EU 1 173748386 173748386 single base substitution C T upstream_gene_variant BRCA-EU 1 173748617 173748617 single base substitution G A intron_variant BRCA-EU 1 173748617 173748617 single base substitution G A upstream_gene_variant BRCA-EU 1 173749019 173749019 single base substitution G C intron_variant BRCA-EU 1 173749019 173749019 single base substitution G C upstream_gene_variant BRCA-EU 1 173749454 173749454 single base substitution A G intron_variant BRCA-EU 1 173749454 173749454 single base substitution A G upstream_gene_variant BRCA-EU 1 173749593 173749593 single base substitution G A intron_variant BRCA-EU 1 173749593 173749593 single base substitution G A upstream_gene_variant BRCA-EU 1 173750034 173750034 deletion of <=200bp T - intron_variant BRCA-EU 1 173750034 173750034 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 173750546 173750546 single base substitution C T intron_variant BRCA-EU 1 173750546 173750546 single base substitution C T upstream_gene_variant BRCA-EU 1 173751277 173751277 single base substitution G A exon_variant BRCA-EU 1 173751277 173751277 single base substitution G A missense_variant V363I 1087G>A BRCA-EU 1 173751277 173751277 single base substitution G A missense_variant V552I 1654G>A BRCA-EU 1 173752424 173752424 single base substitution C T intron_variant BRCA-EU 1 173753458 173753458 single base substitution G A intron_variant BRCA-EU 1 173753517 173753517 single base substitution T C intron_variant BRCA-EU 1 173753680 173753680 single base substitution A C intron_variant BRCA-EU 1 173753697 173753697 single base substitution T C intron_variant BRCA-EU 1 173755287 173755287 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 173755287 173755287 single base substitution C T downstream_gene_variant BRCA-EU 1 173755578 173755578 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 173755578 173755578 single base substitution G C downstream_gene_variant BRCA-EU 1 173757528 173757528 single base substitution C A downstream_gene_variant BRCA-EU 1 173757591 173757591 insertion of <=200bp - TTTC downstream_gene_variant BRCA-EU 1 173757688 173757688 single base substitution G C downstream_gene_variant BRCA-EU 1 173757870 173757870 single base substitution G C downstream_gene_variant BRCA-EU 1 173758268 173758268 single base substitution G C downstream_gene_variant BRCA-EU 1 173758725 173758725 single base substitution C A downstream_gene_variant BRCA-EU 1 173759000 173759000 single base substitution G C downstream_gene_variant BRCA-EU 1 173759627 173759627 single base substitution G A downstream_gene_variant BRCA-EU 1 173759941 173759941 single base substitution G A downstream_gene_variant BRCA-FR 1 173679883 173679883 single base substitution G T upstream_gene_variant BRCA-FR 1 173687904 173687904 single base substitution C T intron_variant BRCA-FR 1 173689531 173689531 single base substitution G A intron_variant BRCA-FR 1 173692847 173692847 single base substitution C T intron_variant BRCA-FR 1 173693503 173693503 single base substitution T G intron_variant BRCA-FR 1 173694680 173694680 single base substitution C A intron_variant BRCA-FR 1 173696690 173696690 single base substitution C T intron_variant BRCA-FR 1 173697629 173697629 single base substitution G A intron_variant BRCA-FR 1 173700158 173700158 single base substitution T C intron_variant BRCA-FR 1 173702217 173702217 single base substitution G A intron_variant BRCA-FR 1 173703282 173703282 single base substitution G C downstream_gene_variant BRCA-FR 1 173703282 173703282 single base substitution G C exon_variant BRCA-FR 1 173703282 173703282 single base substitution G C intron_variant BRCA-FR 1 173703282 173703282 single base substitution G C missense_variant E152Q 454G>C BRCA-FR 1 173706891 173706891 single base substitution G T downstream_gene_variant BRCA-FR 1 173706891 173706891 single base substitution G T intron_variant BRCA-FR 1 173708133 173708133 single base substitution G A downstream_gene_variant BRCA-FR 1 173708133 173708133 single base substitution G A intron_variant BRCA-FR 1 173714418 173714418 single base substitution C T intron_variant BRCA-FR 1 173720268 173720268 single base substitution A G intron_variant BRCA-FR 1 173723677 173723677 single base substitution C A intron_variant BRCA-FR 1 173730402 173730402 single base substitution G C intron_variant BRCA-FR 1 173744628 173744628 single base substitution G C intron_variant BRCA-FR 1 173750546 173750546 single base substitution C T intron_variant BRCA-FR 1 173750546 173750546 single base substitution C T upstream_gene_variant BRCA-FR 1 173757688 173757688 single base substitution G C downstream_gene_variant BRCA-FR 1 173757870 173757870 single base substitution G C downstream_gene_variant BRCA-FR 1 173759000 173759000 single base substitution G C downstream_gene_variant BRCA-FR 1 173759941 173759941 single base substitution G A downstream_gene_variant BRCA-UK 1 173709958 173709958 single base substitution C A intron_variant BRCA-UK 1 173717241 173717241 single base substitution C A intron_variant BRCA-UK 1 173721035 173721035 single base substitution C G missense_variant Q244E 730C>G BRCA-UK 1 173721035 173721035 single base substitution C G missense_variant Q55E 163C>G BRCA-UK 1 173721786 173721786 single base substitution G C intron_variant BRCA-UK 1 173734332 173734332 single base substitution G C intron_variant BRCA-UK 1 173734409 173734409 single base substitution G A intron_variant BRCA-UK 1 173753517 173753517 single base substitution T C intron_variant BRCA-UK 1 173753680 173753680 single base substitution A C intron_variant BRCA-UK 1 173753697 173753697 single base substitution T C intron_variant BRCA-UK 1 173757528 173757528 single base substitution C A downstream_gene_variant BRCA-US 1 173703245 173703245 single base substitution G T downstream_gene_variant BRCA-US 1 173703245 173703245 single base substitution G T exon_variant BRCA-US 1 173703245 173703245 single base substitution G T intron_variant BRCA-US 1 173703245 173703245 single base substitution G T missense_variant Q139H 417G>T BRCA-US 1 173703348 173703349 deletion of <=200bp CG - downstream_gene_variant BRCA-US 1 173703348 173703349 deletion of <=200bp CG - exon_variant BRCA-US 1 173703348 173703349 deletion of <=200bp CG - frameshift_variant R174 BRCA-US 1 173703348 173703349 deletion of <=200bp CG - intron_variant BRCA-US 1 173725095 173725095 single base substitution A G synonymous_variant L106L 318A>G BRCA-US 1 173725095 173725095 single base substitution A G synonymous_variant L295L 885A>G BTCA-JP 1 173721044 173721044 single base substitution C G missense_variant R247G 739C>G BTCA-JP 1 173721044 173721044 single base substitution C G missense_variant R58G 172C>G BTCA-JP 1 173735435 173735435 deletion of <=200bp T - splice_region_variant BTCA-JP 1 173735510 173735510 single base substitution G A intron_variant BTCA-JP 1 173744974 173744974 single base substitution G A missense_variant R355H 1064G>A BTCA-JP 1 173744974 173744974 single base substitution G A missense_variant R544H 1631G>A CESC-US 1 173735316 173735316 single base substitution G A missense_variant D206N 616G>A CESC-US 1 173735316 173735316 single base substitution G A missense_variant D395N 1183G>A CESC-US 1 173743497 173743497 single base substitution G T missense_variant R261I 782G>T CESC-US 1 173743497 173743497 single base substitution G T missense_variant R450I 1349G>T CLLE-ES 1 173694776 173694776 single base substitution T C intron_variant CLLE-ES 1 173694800 173694800 single base substitution T C intron_variant CLLE-ES 1 173694805 173694805 single base substitution A T intron_variant CLLE-ES 1 173702316 173702316 single base substitution A C intron_variant CLLE-ES 1 173747295 173747295 single base substitution A G intron_variant CLLE-ES 1 173747295 173747295 single base substitution A G upstream_gene_variant COAD-US 1 173685206 173685206 single base substitution G T splice_donor_variant COAD-US 1 173702953 173702953 single base substitution G A exon_variant COAD-US 1 173702953 173702953 single base substitution G A intron_variant COAD-US 1 173702953 173702953 single base substitution G A missense_variant R42H 125G>A COAD-US 1 173725142 173725142 single base substitution G A missense_variant R122Q 365G>A COAD-US 1 173725142 173725142 single base substitution G A missense_variant R311Q 932G>A COAD-US 1 173726160 173726160 single base substitution A G missense_variant Y149C 446A>G COAD-US 1 173726160 173726160 single base substitution A G missense_variant Y338C 1013A>G COAD-US 1 173743494 173743494 single base substitution G A missense_variant R260K 779G>A COAD-US 1 173743494 173743494 single base substitution G A missense_variant R449K 1346G>A COAD-US 1 173744969 173744969 single base substitution A G synonymous_variant S353S 1059A>G COAD-US 1 173744969 173744969 single base substitution A G synonymous_variant S542S 1626A>G COAD-US 1 173754326 173754326 single base substitution C A exon_variant COAD-US 1 173754326 173754326 single base substitution C A synonymous_variant R402R 1204C>A COAD-US 1 173754326 173754326 single base substitution C A synonymous_variant R591R 1771C>A COCA-CN 1 173702966 173702966 single base substitution C A exon_variant COCA-CN 1 173702966 173702966 single base substitution C A intron_variant COCA-CN 1 173702966 173702966 single base substitution C A synonymous_variant I46I 138C>A COCA-CN 1 173743472 173743472 single base substitution C T missense_variant R253W 757C>T COCA-CN 1 173743472 173743472 single base substitution C T missense_variant R442W 1324C>T COCA-CN 1 173751112 173751112 single base substitution T G exon_variant COCA-CN 1 173751112 173751112 single base substitution T G intron_variant COCA-CN 1 173751164 173751164 single base substitution G T exon_variant COCA-CN 1 173751164 173751164 single base substitution G T intron_variant COCA-CN 1 173751319 173751319 single base substitution A C exon_variant COCA-CN 1 173751319 173751319 single base substitution A C missense_variant T377P 1129A>C COCA-CN 1 173751319 173751319 single base substitution A C missense_variant T566P 1696A>C ESAD-UK 1 173679206 173679206 single base substitution C G upstream_gene_variant ESAD-UK 1 173679776 173679776 single base substitution C A upstream_gene_variant ESAD-UK 1 173680773 173680773 single base substitution T G upstream_gene_variant ESAD-UK 1 173681521 173681521 single base substitution G A upstream_gene_variant ESAD-UK 1 173683340 173683340 single base substitution A G upstream_gene_variant ESAD-UK 1 173683614 173683614 single base substitution G A upstream_gene_variant ESAD-UK 1 173684593 173684593 single base substitution A T exon_variant ESAD-UK 1 173684593 173684593 single base substitution A T intron_variant ESAD-UK 1 173684593 173684593 single base substitution A T upstream_gene_variant ESAD-UK 1 173685107 173685107 single base substitution G T intron_variant ESAD-UK 1 173685834 173685834 single base substitution A G intron_variant ESAD-UK 1 173693532 173693532 single base substitution C T intron_variant ESAD-UK 1 173695023 173695023 single base substitution T C intron_variant ESAD-UK 1 173695508 173695508 single base substitution A T intron_variant ESAD-UK 1 173701005 173701005 insertion of <=200bp - A intron_variant ESAD-UK 1 173702730 173702730 single base substitution T A intron_variant ESAD-UK 1 173703667 173703667 single base substitution A T downstream_gene_variant ESAD-UK 1 173703667 173703667 single base substitution A T intron_variant ESAD-UK 1 173705317 173705317 single base substitution C A downstream_gene_variant ESAD-UK 1 173705317 173705317 single base substitution C A intron_variant ESAD-UK 1 173706151 173706151 single base substitution A G downstream_gene_variant ESAD-UK 1 173706151 173706151 single base substitution A G intron_variant ESAD-UK 1 173708770 173708770 single base substitution G A intron_variant ESAD-UK 1 173711436 173711436 single base substitution G A intron_variant ESAD-UK 1 173712679 173712679 single base substitution A T intron_variant ESAD-UK 1 173718442 173718442 single base substitution T G intron_variant ESAD-UK 1 173718943 173718943 single base substitution A G intron_variant ESAD-UK 1 173719393 173719393 single base substitution T A intron_variant ESAD-UK 1 173725835 173725835 single base substitution T C intron_variant ESAD-UK 1 173727514 173727514 single base substitution C T intron_variant ESAD-UK 1 173729887 173729887 single base substitution C A intron_variant ESAD-UK 1 173730368 173730368 single base substitution T G intron_variant ESAD-UK 1 173734249 173734249 single base substitution C T intron_variant ESAD-UK 1 173734428 173734428 single base substitution G A intron_variant ESAD-UK 1 173734763 173734763 single base substitution A T intron_variant ESAD-UK 1 173737726 173737726 single base substitution T G intron_variant ESAD-UK 1 173739051 173739051 single base substitution T A intron_variant ESAD-UK 1 173740141 173740141 single base substitution T G intron_variant ESAD-UK 1 173745233 173745233 single base substitution T A intron_variant ESAD-UK 1 173747237 173747237 single base substitution G T intron_variant ESAD-UK 1 173747237 173747237 single base substitution G T upstream_gene_variant ESAD-UK 1 173752292 173752292 single base substitution T C intron_variant ESAD-UK 1 173755227 173755227 single base substitution T G 3_prime_UTR_variant ESAD-UK 1 173755227 173755227 single base substitution T G downstream_gene_variant ESAD-UK 1 173755331 173755331 single base substitution T G 3_prime_UTR_variant ESAD-UK 1 173755331 173755331 single base substitution T G downstream_gene_variant ESAD-UK 1 173755791 173755791 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 173755791 173755791 single base substitution T C downstream_gene_variant ESAD-UK 1 173758293 173758293 single base substitution T C downstream_gene_variant ESAD-UK 1 173759422 173759422 single base substitution A T downstream_gene_variant ESAD-UK 1 173760336 173760336 single base substitution G C downstream_gene_variant ESCA-CN 1 173726216 173726216 single base substitution G A missense_variant G168R 502G>A ESCA-CN 1 173726216 173726216 single base substitution G A missense_variant G357R 1069G>A GBM-US 1 173744944 173744944 single base substitution G T missense_variant W345L 1034G>T GBM-US 1 173744944 173744944 single base substitution G T missense_variant W534L 1601G>T KIRC-US 1 173703125 173703125 single base substitution A T downstream_gene_variant KIRC-US 1 173703125 173703125 single base substitution A T exon_variant KIRC-US 1 173703125 173703125 single base substitution A T intron_variant KIRC-US 1 173703125 173703125 single base substitution A T synonymous_variant G99G 297A>T LAML-KR 1 173702764 173702764 single base substitution C T intron_variant LGG-US 1 173726268 173726268 single base substitution A T missense_variant D185V 554A>T LGG-US 1 173726268 173726268 single base substitution A T missense_variant D374V 1121A>T LICA-CN 1 173703206 173703206 single base substitution G T downstream_gene_variant LICA-CN 1 173703206 173703206 single base substitution G T exon_variant LICA-CN 1 173703206 173703206 single base substitution G T intron_variant LICA-CN 1 173703206 173703206 single base substitution G T synonymous_variant A126A 378G>T LICA-FR 1 173686655 173686655 single base substitution A G intron_variant LICA-FR 1 173694690 173694690 single base substitution G T intron_variant LICA-FR 1 173698229 173698229 single base substitution A G intron_variant LICA-FR 1 173705076 173705076 deletion of <=200bp T - downstream_gene_variant LICA-FR 1 173705076 173705076 deletion of <=200bp T - intron_variant LICA-FR 1 173719717 173719717 single base substitution C T intron_variant LICA-FR 1 173744872 173744872 single base substitution A G missense_variant Y321C 962A>G LICA-FR 1 173744872 173744872 single base substitution A G missense_variant Y510C 1529A>G LINC-JP 1 173692477 173692477 single base substitution C G intron_variant LINC-JP 1 173693312 173693312 deletion of <=200bp T - intron_variant LINC-JP 1 173707263 173707263 single base substitution T C downstream_gene_variant LINC-JP 1 173707263 173707263 single base substitution T C intron_variant LINC-JP 1 173709300 173709300 single base substitution G T intron_variant LINC-JP 1 173712151 173712151 single base substitution A T intron_variant LINC-JP 1 173716333 173716333 single base substitution T G intron_variant LINC-JP 1 173718448 173718448 single base substitution A G intron_variant LINC-JP 1 173721148 173721148 single base substitution A G intron_variant LINC-JP 1 173726396 173726396 single base substitution A T intron_variant LINC-JP 1 173729053 173729053 single base substitution T G intron_variant LINC-JP 1 173751420 173751420 single base substitution G A intron_variant LINC-JP 1 173758216 173758216 single base substitution G A downstream_gene_variant LIRI-JP 1 173680098 173680098 single base substitution T A upstream_gene_variant LIRI-JP 1 173680812 173680812 single base substitution G T upstream_gene_variant LIRI-JP 1 173684000 173684000 single base substitution G T upstream_gene_variant LIRI-JP 1 173684031 173684031 single base substitution G T upstream_gene_variant LIRI-JP 1 173685023 173685030 deletion of <=200bp GTATAATA - intron_variant LIRI-JP 1 173685044 173685044 single base substitution T A intron_variant LIRI-JP 1 173685240 173685240 single base substitution G T intron_variant LIRI-JP 1 173686554 173686554 single base substitution T C intron_variant LIRI-JP 1 173686613 173686613 single base substitution C T intron_variant LIRI-JP 1 173687493 173687493 single base substitution C T intron_variant LIRI-JP 1 173687494 173687494 single base substitution A G intron_variant LIRI-JP 1 173689445 173689445 single base substitution A G intron_variant LIRI-JP 1 173689594 173689594 single base substitution G T intron_variant LIRI-JP 1 173690543 173690543 single base substitution T C intron_variant LIRI-JP 1 173690579 173690579 single base substitution T C intron_variant LIRI-JP 1 173690909 173690909 single base substitution G T intron_variant LIRI-JP 1 173691037 173691037 single base substitution A G intron_variant LIRI-JP 1 173691181 173691181 single base substitution A C intron_variant LIRI-JP 1 173692239 173692239 single base substitution A G intron_variant LIRI-JP 1 173692716 173692716 single base substitution C T intron_variant LIRI-JP 1 173696416 173696416 single base substitution G A intron_variant LIRI-JP 1 173696480 173696480 single base substitution C T intron_variant LIRI-JP 1 173697762 173697762 single base substitution A G intron_variant LIRI-JP 1 173700879 173700879 single base substitution G A intron_variant LIRI-JP 1 173701512 173701512 single base substitution A C intron_variant LIRI-JP 1 173701695 173701695 single base substitution A G intron_variant LIRI-JP 1 173701837 173701837 single base substitution C A intron_variant LIRI-JP 1 173703208 173703208 single base substitution A G downstream_gene_variant LIRI-JP 1 173703208 173703208 single base substitution A G exon_variant LIRI-JP 1 173703208 173703208 single base substitution A G intron_variant LIRI-JP 1 173703208 173703208 single base substitution A G missense_variant Y127C 380A>G LIRI-JP 1 173703317 173703317 single base substitution A C downstream_gene_variant LIRI-JP 1 173703317 173703317 single base substitution A C exon_variant LIRI-JP 1 173703317 173703317 single base substitution A C intron_variant LIRI-JP 1 173703317 173703317 single base substitution A C missense_variant R163S 489A>C LIRI-JP 1 173704620 173704620 single base substitution C T downstream_gene_variant LIRI-JP 1 173704620 173704620 single base substitution C T intron_variant LIRI-JP 1 173705432 173705432 single base substitution G A downstream_gene_variant LIRI-JP 1 173705432 173705432 single base substitution G A intron_variant LIRI-JP 1 173706682 173706682 single base substitution T C downstream_gene_variant LIRI-JP 1 173706682 173706682 single base substitution T C intron_variant LIRI-JP 1 173707956 173707956 single base substitution C T downstream_gene_variant LIRI-JP 1 173707956 173707956 single base substitution C T intron_variant LIRI-JP 1 173711711 173711711 single base substitution A G intron_variant LIRI-JP 1 173714807 173714807 single base substitution A G intron_variant LIRI-JP 1 173715490 173715490 single base substitution A G intron_variant LIRI-JP 1 173717593 173717593 single base substitution A G intron_variant LIRI-JP 1 173718011 173718011 single base substitution A G intron_variant LIRI-JP 1 173720405 173720405 single base substitution A G intron_variant LIRI-JP 1 173721125 173721125 single base substitution C G intron_variant LIRI-JP 1 173730153 173730153 single base substitution T G intron_variant LIRI-JP 1 173731268 173731268 single base substitution G A intron_variant LIRI-JP 1 173731717 173731717 single base substitution A G intron_variant LIRI-JP 1 173733228 173733228 single base substitution G T intron_variant LIRI-JP 1 173734334 173734341 deletion of <=200bp TAGGATTT - intron_variant LIRI-JP 1 173734514 173734514 single base substitution C T intron_variant LIRI-JP 1 173736175 173736175 single base substitution T A intron_variant LIRI-JP 1 173736725 173736725 single base substitution A T intron_variant LIRI-JP 1 173740828 173740828 single base substitution G A intron_variant LIRI-JP 1 173740904 173740904 single base substitution C G intron_variant LIRI-JP 1 173741210 173741210 single base substitution C A intron_variant LIRI-JP 1 173743446 173743446 single base substitution A G missense_variant Y244C 731A>G LIRI-JP 1 173743446 173743446 single base substitution A G missense_variant Y433C 1298A>G LIRI-JP 1 173743898 173743898 single base substitution A G intron_variant LIRI-JP 1 173743915 173743922 deletion of <=200bp AAACTTAG - intron_variant LIRI-JP 1 173744811 173744811 single base substitution A G missense_variant I301V 901A>G LIRI-JP 1 173744811 173744811 single base substitution A G missense_variant I490V 1468A>G LIRI-JP 1 173744995 173744995 single base substitution G T intron_variant LIRI-JP 1 173745129 173745129 single base substitution A G intron_variant LIRI-JP 1 173747252 173747252 single base substitution A T intron_variant LIRI-JP 1 173747252 173747252 single base substitution A T upstream_gene_variant LIRI-JP 1 173748014 173748014 single base substitution T A intron_variant LIRI-JP 1 173748014 173748014 single base substitution T A upstream_gene_variant LIRI-JP 1 173750037 173750037 single base substitution T C intron_variant LIRI-JP 1 173750037 173750037 single base substitution T C upstream_gene_variant LIRI-JP 1 173750799 173750799 single base substitution C G intron_variant LIRI-JP 1 173750799 173750799 single base substitution C G upstream_gene_variant LIRI-JP 1 173753848 173753848 single base substitution A G intron_variant LIRI-JP 1 173755980 173755987 deletion of <=200bp TATATTTT - downstream_gene_variant LIRI-JP 1 173759530 173759530 single base substitution A G downstream_gene_variant LIRI-JP 1 173760231 173760231 single base substitution A G downstream_gene_variant LUSC-KR 1 173681313 173681313 single base substitution T C upstream_gene_variant LUSC-KR 1 173683025 173683025 single base substitution C A upstream_gene_variant LUSC-KR 1 173683964 173683964 single base substitution C A upstream_gene_variant LUSC-KR 1 173684143 173684143 single base substitution G A 5_prime_UTR_variant LUSC-KR 1 173684143 173684143 single base substitution G A exon_variant LUSC-KR 1 173684143 173684143 single base substitution G A upstream_gene_variant LUSC-KR 1 173685221 173685221 single base substitution G T intron_variant LUSC-KR 1 173686189 173686189 single base substitution A T intron_variant LUSC-KR 1 173689113 173689113 single base substitution C T intron_variant LUSC-KR 1 173699388 173699388 single base substitution G C intron_variant LUSC-KR 1 173699936 173699936 single base substitution G T intron_variant LUSC-KR 1 173700966 173700966 single base substitution C T intron_variant LUSC-KR 1 173701724 173701724 single base substitution A G intron_variant LUSC-KR 1 173704204 173704204 single base substitution A G downstream_gene_variant LUSC-KR 1 173704204 173704204 single base substitution A G intron_variant LUSC-KR 1 173705784 173705784 single base substitution G T downstream_gene_variant LUSC-KR 1 173705784 173705784 single base substitution G T intron_variant LUSC-KR 1 173708756 173708756 single base substitution A T intron_variant LUSC-KR 1 173714329 173714329 single base substitution G T intron_variant LUSC-KR 1 173717618 173717618 single base substitution A G intron_variant LUSC-KR 1 173723748 173723748 single base substitution G A intron_variant LUSC-KR 1 173724487 173724487 single base substitution G T intron_variant LUSC-KR 1 173725143 173725143 single base substitution G A synonymous_variant R122R 366G>A LUSC-KR 1 173725143 173725143 single base substitution G A synonymous_variant R311R 933G>A LUSC-KR 1 173729028 173729028 single base substitution G A intron_variant LUSC-KR 1 173740806 173740806 single base substitution C G intron_variant LUSC-KR 1 173752448 173752448 single base substitution C A intron_variant LUSC-KR 1 173754110 173754110 single base substitution C G intron_variant LUSC-KR 1 173757002 173757002 single base substitution G A downstream_gene_variant LUSC-KR 1 173757846 173757846 single base substitution C T downstream_gene_variant LUSC-KR 1 173758688 173758688 single base substitution C G downstream_gene_variant LUSC-US 1 173703000 173703000 single base substitution A T downstream_gene_variant LUSC-US 1 173703000 173703000 single base substitution A T exon_variant LUSC-US 1 173703000 173703000 single base substitution A T intron_variant LUSC-US 1 173703000 173703000 single base substitution A T missense_variant I58F 172A>T LUSC-US 1 173721005 173721005 single base substitution G T missense_variant A234S 700G>T LUSC-US 1 173721005 173721005 single base substitution G T missense_variant A45S 133G>T LUSC-US 1 173735424 173735424 single base substitution G C missense_variant E242Q 724G>C LUSC-US 1 173735424 173735424 single base substitution G C missense_variant E431Q 1291G>C MALY-DE 1 173693563 173693563 single base substitution C A intron_variant MALY-DE 1 173703206 173703206 single base substitution G C downstream_gene_variant MALY-DE 1 173703206 173703206 single base substitution G C exon_variant MALY-DE 1 173703206 173703206 single base substitution G C intron_variant MALY-DE 1 173703206 173703206 single base substitution G C synonymous_variant A126A 378G>C MALY-DE 1 173711910 173711910 single base substitution T C intron_variant MALY-DE 1 173712763 173712763 single base substitution A T intron_variant MALY-DE 1 173713544 173713544 single base substitution C G intron_variant MALY-DE 1 173717611 173717611 single base substitution A T intron_variant MALY-DE 1 173717825 173717825 single base substitution T C intron_variant MALY-DE 1 173720596 173720596 single base substitution A T intron_variant MALY-DE 1 173733070 173733070 single base substitution A T intron_variant MALY-DE 1 173744200 173744200 single base substitution T G intron_variant MALY-DE 1 173744274 173744274 single base substitution G C intron_variant MALY-DE 1 173749856 173749856 single base substitution G A intron_variant MALY-DE 1 173749856 173749856 single base substitution G A upstream_gene_variant MALY-DE 1 173750191 173750191 single base substitution T G intron_variant MALY-DE 1 173750191 173750191 single base substitution T G upstream_gene_variant MALY-DE 1 173751860 173751860 single base substitution G A intron_variant MALY-DE 1 173755830 173755830 single base substitution A T 3_prime_UTR_variant MALY-DE 1 173755830 173755830 single base substitution A T downstream_gene_variant MALY-DE 1 173756047 173756047 single base substitution A T downstream_gene_variant MELA-AU 1 173679292 173679292 single base substitution C T upstream_gene_variant MELA-AU 1 173679472 173679472 single base substitution G A upstream_gene_variant MELA-AU 1 173679523 173679523 single base substitution G A upstream_gene_variant MELA-AU 1 173679553 173679553 single base substitution G A upstream_gene_variant MELA-AU 1 173679680 173679680 single base substitution G A upstream_gene_variant MELA-AU 1 173679743 173679743 single base substitution C T upstream_gene_variant MELA-AU 1 173679760 173679760 single base substitution G A upstream_gene_variant MELA-AU 1 173679828 173679828 single base substitution A G upstream_gene_variant MELA-AU 1 173679884 173679884 single base substitution G A upstream_gene_variant MELA-AU 1 173679984 173679984 single base substitution G A upstream_gene_variant MELA-AU 1 173680168 173680168 single base substitution G A upstream_gene_variant MELA-AU 1 173680306 173680306 single base substitution G A upstream_gene_variant MELA-AU 1 173680329 173680329 single base substitution C T upstream_gene_variant MELA-AU 1 173680521 173680521 single base substitution G A upstream_gene_variant MELA-AU 1 173680564 173680564 single base substitution G A upstream_gene_variant MELA-AU 1 173680751 173680751 single base substitution G A upstream_gene_variant MELA-AU 1 173681196 173681196 single base substitution G A upstream_gene_variant MELA-AU 1 173681375 173681375 single base substitution G A upstream_gene_variant MELA-AU 1 173681797 173681797 single base substitution G A upstream_gene_variant MELA-AU 1 173682344 173682344 single base substitution G A upstream_gene_variant MELA-AU 1 173682610 173682610 single base substitution C T upstream_gene_variant MELA-AU 1 173682856 173682857 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 173682938 173682938 single base substitution C T upstream_gene_variant MELA-AU 1 173683250 173683250 single base substitution A T upstream_gene_variant MELA-AU 1 173683318 173683318 single base substitution G A upstream_gene_variant MELA-AU 1 173683415 173683415 single base substitution G A upstream_gene_variant MELA-AU 1 173683420 173683420 single base substitution G A upstream_gene_variant MELA-AU 1 173683716 173683716 single base substitution A G upstream_gene_variant MELA-AU 1 173683972 173683972 single base substitution C T upstream_gene_variant MELA-AU 1 173684012 173684012 single base substitution C T upstream_gene_variant MELA-AU 1 173684309 173684309 single base substitution C T intron_variant MELA-AU 1 173684309 173684309 single base substitution C T upstream_gene_variant MELA-AU 1 173685277 173685277 single base substitution A G intron_variant MELA-AU 1 173685441 173685441 single base substitution C T intron_variant MELA-AU 1 173685470 173685470 single base substitution C T intron_variant MELA-AU 1 173686052 173686052 single base substitution C A intron_variant MELA-AU 1 173686184 173686184 single base substitution C T intron_variant MELA-AU 1 173686277 173686277 single base substitution C T intron_variant MELA-AU 1 173686751 173686751 single base substitution G A intron_variant MELA-AU 1 173687241 173687241 single base substitution C T intron_variant MELA-AU 1 173687279 173687279 single base substitution T C intron_variant MELA-AU 1 173687324 173687325 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 173687561 173687561 single base substitution G A intron_variant MELA-AU 1 173688039 173688039 single base substitution C T intron_variant MELA-AU 1 173688294 173688295 multiple base substitution (>=2bp and <=200bp) TT CC intron_variant MELA-AU 1 173688547 173688547 single base substitution C T intron_variant MELA-AU 1 173688575 173688575 single base substitution C T intron_variant MELA-AU 1 173688907 173688907 single base substitution A T intron_variant MELA-AU 1 173688969 173688969 single base substitution C T intron_variant MELA-AU 1 173689619 173689619 single base substitution A G intron_variant MELA-AU 1 173691563 173691564 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 173691614 173691614 single base substitution A G intron_variant MELA-AU 1 173692635 173692635 single base substitution C T intron_variant MELA-AU 1 173692714 173692714 single base substitution C T intron_variant MELA-AU 1 173693429 173693429 single base substitution C G intron_variant MELA-AU 1 173693432 173693432 single base substitution C T intron_variant MELA-AU 1 173693819 173693819 single base substitution C T intron_variant MELA-AU 1 173694075 173694075 single base substitution C T intron_variant MELA-AU 1 173694316 173694316 single base substitution C T intron_variant MELA-AU 1 173694338 173694338 single base substitution C T intron_variant MELA-AU 1 173694557 173694558 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 173694730 173694730 single base substitution C T intron_variant MELA-AU 1 173694837 173694837 single base substitution C T intron_variant MELA-AU 1 173695062 173695062 single base substitution G A intron_variant MELA-AU 1 173695240 173695240 single base substitution C T intron_variant MELA-AU 1 173695261 173695261 single base substitution C T intron_variant MELA-AU 1 173695374 173695374 single base substitution A G intron_variant MELA-AU 1 173695693 173695693 single base substitution C T intron_variant MELA-AU 1 173696509 173696509 single base substitution C T intron_variant MELA-AU 1 173696885 173696885 single base substitution G A intron_variant MELA-AU 1 173697608 173697608 single base substitution C T intron_variant MELA-AU 1 173697854 173697854 single base substitution C T intron_variant MELA-AU 1 173698072 173698072 single base substitution C G intron_variant MELA-AU 1 173698296 173698296 single base substitution C T intron_variant MELA-AU 1 173698451 173698451 single base substitution C T intron_variant MELA-AU 1 173698494 173698495 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 173698629 173698629 single base substitution C T intron_variant MELA-AU 1 173699070 173699070 single base substitution C T intron_variant MELA-AU 1 173700479 173700479 single base substitution C T intron_variant MELA-AU 1 173701162 173701162 single base substitution C T intron_variant MELA-AU 1 173701303 173701303 single base substitution C T intron_variant MELA-AU 1 173701311 173701312 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 173702416 173702416 single base substitution C T intron_variant MELA-AU 1 173702419 173702419 single base substitution C T intron_variant MELA-AU 1 173702763 173702763 single base substitution C T intron_variant MELA-AU 1 173703883 173703883 single base substitution T A downstream_gene_variant MELA-AU 1 173703883 173703883 single base substitution T A intron_variant MELA-AU 1 173703931 173703931 single base substitution C T downstream_gene_variant MELA-AU 1 173703931 173703931 single base substitution C T intron_variant MELA-AU 1 173703987 173703987 single base substitution C T downstream_gene_variant MELA-AU 1 173703987 173703987 single base substitution C T intron_variant MELA-AU 1 173704467 173704467 single base substitution C T downstream_gene_variant MELA-AU 1 173704467 173704467 single base substitution C T intron_variant MELA-AU 1 173704539 173704539 single base substitution C T downstream_gene_variant MELA-AU 1 173704539 173704539 single base substitution C T intron_variant MELA-AU 1 173704739 173704739 single base substitution C T downstream_gene_variant MELA-AU 1 173704739 173704739 single base substitution C T intron_variant MELA-AU 1 173704930 173704930 single base substitution C T downstream_gene_variant MELA-AU 1 173704930 173704930 single base substitution C T intron_variant MELA-AU 1 173705279 173705279 single base substitution T C downstream_gene_variant MELA-AU 1 173705279 173705279 single base substitution T C intron_variant MELA-AU 1 173705493 173705493 single base substitution C T downstream_gene_variant MELA-AU 1 173705493 173705493 single base substitution C T intron_variant MELA-AU 1 173705643 173705643 single base substitution C T downstream_gene_variant MELA-AU 1 173705643 173705643 single base substitution C T intron_variant MELA-AU 1 173705868 173705868 single base substitution G A downstream_gene_variant MELA-AU 1 173705868 173705868 single base substitution G A intron_variant MELA-AU 1 173706135 173706135 single base substitution C T downstream_gene_variant MELA-AU 1 173706135 173706135 single base substitution C T intron_variant MELA-AU 1 173706460 173706460 single base substitution C T downstream_gene_variant MELA-AU 1 173706460 173706460 single base substitution C T intron_variant MELA-AU 1 173706910 173706910 single base substitution G A downstream_gene_variant MELA-AU 1 173706910 173706910 single base substitution G A intron_variant MELA-AU 1 173707000 173707000 deletion of <=200bp T - downstream_gene_variant MELA-AU 1 173707000 173707000 deletion of <=200bp T - intron_variant MELA-AU 1 173707260 173707260 single base substitution G A downstream_gene_variant MELA-AU 1 173707260 173707260 single base substitution G A intron_variant MELA-AU 1 173707813 173707813 single base substitution C T downstream_gene_variant MELA-AU 1 173707813 173707813 single base substitution C T intron_variant MELA-AU 1 173707938 173707938 single base substitution T G downstream_gene_variant MELA-AU 1 173707938 173707938 single base substitution T G intron_variant MELA-AU 1 173708083 173708083 single base substitution C T downstream_gene_variant MELA-AU 1 173708083 173708083 single base substitution C T intron_variant MELA-AU 1 173708369 173708369 single base substitution G T downstream_gene_variant MELA-AU 1 173708369 173708369 single base substitution G T intron_variant MELA-AU 1 173708602 173708602 single base substitution C T downstream_gene_variant MELA-AU 1 173708602 173708602 single base substitution C T intron_variant MELA-AU 1 173708637 173708637 single base substitution C T downstream_gene_variant MELA-AU 1 173708637 173708637 single base substitution C T intron_variant MELA-AU 1 173709691 173709691 single base substitution C T intron_variant MELA-AU 1 173709721 173709721 single base substitution A G intron_variant MELA-AU 1 173710351 173710351 single base substitution T G intron_variant MELA-AU 1 173710533 173710534 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 173710828 173710828 single base substitution G A intron_variant MELA-AU 1 173710838 173710838 single base substitution C T intron_variant MELA-AU 1 173711145 173711145 single base substitution C T intron_variant MELA-AU 1 173711623 173711623 single base substitution C T intron_variant MELA-AU 1 173712046 173712046 single base substitution G A intron_variant MELA-AU 1 173712581 173712581 single base substitution G A intron_variant MELA-AU 1 173712631 173712631 single base substitution C T intron_variant MELA-AU 1 173712640 173712640 single base substitution C T intron_variant MELA-AU 1 173712660 173712660 single base substitution T C intron_variant MELA-AU 1 173712797 173712797 single base substitution C T intron_variant MELA-AU 1 173712856 173712856 single base substitution C T intron_variant MELA-AU 1 173714757 173714757 single base substitution T A intron_variant MELA-AU 1 173715191 173715191 single base substitution C A intron_variant MELA-AU 1 173715555 173715555 single base substitution G A intron_variant MELA-AU 1 173715635 173715635 single base substitution C T intron_variant MELA-AU 1 173715940 173715940 single base substitution C T intron_variant MELA-AU 1 173716014 173716014 single base substitution G A intron_variant MELA-AU 1 173717062 173717062 single base substitution C T intron_variant MELA-AU 1 173717213 173717213 single base substitution G A intron_variant MELA-AU 1 173718449 173718449 single base substitution T C intron_variant MELA-AU 1 173718961 173718961 single base substitution G A intron_variant MELA-AU 1 173720204 173720204 single base substitution G A intron_variant MELA-AU 1 173720221 173720221 single base substitution C T intron_variant MELA-AU 1 173721181 173721181 single base substitution C T intron_variant MELA-AU 1 173721966 173721966 single base substitution G A intron_variant MELA-AU 1 173722500 173722500 single base substitution C T intron_variant MELA-AU 1 173722507 173722507 single base substitution C T intron_variant MELA-AU 1 173722811 173722811 single base substitution C T intron_variant MELA-AU 1 173723121 173723121 single base substitution C T intron_variant MELA-AU 1 173723948 173723948 single base substitution C T intron_variant MELA-AU 1 173724637 173724637 single base substitution C T intron_variant MELA-AU 1 173724941 173724941 single base substitution C T intron_variant MELA-AU 1 173725153 173725153 single base substitution C T stop_gained R126* 376C>T MELA-AU 1 173725153 173725153 single base substitution C T stop_gained R315* 943C>T MELA-AU 1 173725765 173725765 single base substitution C T intron_variant MELA-AU 1 173725940 173725940 single base substitution T A intron_variant MELA-AU 1 173726652 173726652 single base substitution C T intron_variant MELA-AU 1 173726731 173726731 single base substitution G A intron_variant MELA-AU 1 173726903 173726903 single base substitution T C intron_variant MELA-AU 1 173727107 173727107 single base substitution C T intron_variant MELA-AU 1 173727860 173727860 single base substitution G A intron_variant MELA-AU 1 173728783 173728783 single base substitution C T intron_variant MELA-AU 1 173728920 173728920 single base substitution G T intron_variant MELA-AU 1 173729099 173729099 single base substitution G T intron_variant MELA-AU 1 173729459 173729459 single base substitution C T intron_variant MELA-AU 1 173729741 173729741 single base substitution C T intron_variant MELA-AU 1 173729877 173729877 single base substitution C T intron_variant MELA-AU 1 173729903 173729903 single base substitution C T intron_variant MELA-AU 1 173729944 173729944 single base substitution C A intron_variant MELA-AU 1 173729974 173729974 single base substitution C T intron_variant MELA-AU 1 173730790 173730790 single base substitution G A intron_variant MELA-AU 1 173730945 173730945 single base substitution C T intron_variant MELA-AU 1 173732054 173732054 single base substitution C T intron_variant MELA-AU 1 173732235 173732235 single base substitution A T intron_variant MELA-AU 1 173732381 173732382 multiple base substitution (>=2bp and <=200bp) CA GG intron_variant MELA-AU 1 173733460 173733460 single base substitution C T intron_variant MELA-AU 1 173733485 173733485 single base substitution C T intron_variant MELA-AU 1 173733600 173733600 single base substitution C T intron_variant MELA-AU 1 173734498 173734498 single base substitution C T intron_variant MELA-AU 1 173734636 173734636 single base substitution C T intron_variant MELA-AU 1 173735037 173735037 single base substitution C T intron_variant MELA-AU 1 173735531 173735531 single base substitution C T intron_variant MELA-AU 1 173735932 173735932 single base substitution T C intron_variant MELA-AU 1 173736309 173736309 single base substitution G A intron_variant MELA-AU 1 173736340 173736340 single base substitution C T intron_variant MELA-AU 1 173736957 173736957 single base substitution T C intron_variant MELA-AU 1 173737307 173737307 single base substitution T C intron_variant MELA-AU 1 173738474 173738474 single base substitution C T intron_variant MELA-AU 1 173738690 173738690 single base substitution G A intron_variant MELA-AU 1 173740335 173740335 single base substitution C T intron_variant MELA-AU 1 173740928 173740928 single base substitution G A intron_variant MELA-AU 1 173741511 173741511 single base substitution A T intron_variant MELA-AU 1 173741974 173741974 single base substitution G A intron_variant MELA-AU 1 173742824 173742824 single base substitution A G intron_variant MELA-AU 1 173743588 173743588 single base substitution C T intron_variant MELA-AU 1 173743879 173743879 single base substitution C T intron_variant MELA-AU 1 173743934 173743934 single base substitution C T intron_variant MELA-AU 1 173743938 173743938 single base substitution T C intron_variant MELA-AU 1 173744263 173744263 single base substitution C T intron_variant MELA-AU 1 173744463 173744463 single base substitution G A intron_variant MELA-AU 1 173744523 173744523 single base substitution A C intron_variant MELA-AU 1 173745158 173745158 single base substitution C T intron_variant MELA-AU 1 173745159 173745159 single base substitution C T intron_variant MELA-AU 1 173745907 173745907 single base substitution C T intron_variant MELA-AU 1 173746830 173746830 single base substitution C T intron_variant MELA-AU 1 173746830 173746830 single base substitution C T upstream_gene_variant MELA-AU 1 173747340 173747340 single base substitution C T intron_variant MELA-AU 1 173747340 173747340 single base substitution C T upstream_gene_variant MELA-AU 1 173747721 173747721 single base substitution A C intron_variant MELA-AU 1 173747721 173747721 single base substitution A C upstream_gene_variant MELA-AU 1 173748060 173748060 single base substitution G T intron_variant MELA-AU 1 173748060 173748060 single base substitution G T upstream_gene_variant MELA-AU 1 173748091 173748091 single base substitution T A intron_variant MELA-AU 1 173748091 173748091 single base substitution T A upstream_gene_variant MELA-AU 1 173749391 173749391 single base substitution G A intron_variant MELA-AU 1 173749391 173749391 single base substitution G A upstream_gene_variant MELA-AU 1 173749958 173749959 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 173749958 173749959 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 173751069 173751069 single base substitution A T exon_variant MELA-AU 1 173751069 173751069 single base substitution A T intron_variant MELA-AU 1 173751851 173751851 single base substitution T A intron_variant MELA-AU 1 173752159 173752159 single base substitution C T intron_variant MELA-AU 1 173752912 173752912 single base substitution A C intron_variant MELA-AU 1 173753369 173753369 insertion of <=200bp - T intron_variant MELA-AU 1 173753431 173753431 single base substitution G A intron_variant MELA-AU 1 173755659 173755659 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173755659 173755659 single base substitution C T downstream_gene_variant MELA-AU 1 173756601 173756601 single base substitution A G downstream_gene_variant MELA-AU 1 173758208 173758209 multiple base substitution (>=2bp and <=200bp) TT GA downstream_gene_variant MELA-AU 1 173758247 173758247 single base substitution C T downstream_gene_variant MELA-AU 1 173758957 173758957 single base substitution G A downstream_gene_variant MELA-AU 1 173759372 173759372 single base substitution T C downstream_gene_variant MELA-AU 1 173760679 173760679 single base substitution G A downstream_gene_variant ORCA-IN 1 173679994 173679994 single base substitution G A upstream_gene_variant ORCA-IN 1 173702595 173702595 single base substitution G A intron_variant ORCA-IN 1 173721845 173721845 single base substitution C A intron_variant OV-AU 1 173679631 173679631 single base substitution C T upstream_gene_variant OV-AU 1 173685842 173685842 single base substitution C G intron_variant OV-AU 1 173691276 173691276 single base substitution G C intron_variant OV-AU 1 173694518 173694518 single base substitution G C intron_variant OV-AU 1 173697500 173697500 single base substitution A T intron_variant OV-AU 1 173700884 173700884 single base substitution A T intron_variant OV-AU 1 173703465 173703465 single base substitution A G downstream_gene_variant OV-AU 1 173703465 173703465 single base substitution A G exon_variant OV-AU 1 173703465 173703465 single base substitution A G intron_variant OV-AU 1 173715923 173715923 single base substitution G A intron_variant OV-AU 1 173725693 173725693 single base substitution G A intron_variant OV-AU 1 173731993 173731993 single base substitution T C intron_variant OV-AU 1 173732270 173732270 single base substitution C A intron_variant OV-AU 1 173738058 173738058 single base substitution G A intron_variant OV-AU 1 173740147 173740147 single base substitution G T intron_variant OV-AU 1 173743932 173743932 single base substitution T A intron_variant OV-AU 1 173746240 173746240 single base substitution A C intron_variant OV-AU 1 173746240 173746240 single base substitution A C upstream_gene_variant OV-AU 1 173750019 173750019 single base substitution C A intron_variant OV-AU 1 173750019 173750019 single base substitution C A upstream_gene_variant OV-AU 1 173750793 173750793 single base substitution A G intron_variant OV-AU 1 173750793 173750793 single base substitution A G upstream_gene_variant OV-AU 1 173753824 173753824 single base substitution T C intron_variant PACA-AU 1 173686619 173686619 single base substitution C T intron_variant PACA-AU 1 173693992 173693992 single base substitution T G intron_variant PACA-AU 1 173699154 173699154 single base substitution G T intron_variant PACA-AU 1 173701722 173701722 single base substitution C T intron_variant PACA-AU 1 173705565 173705565 single base substitution C T downstream_gene_variant PACA-AU 1 173705565 173705565 single base substitution C T intron_variant PACA-AU 1 173723301 173723301 single base substitution T C intron_variant PACA-AU 1 173729432 173729435 deletion of <=200bp ACTC - intron_variant PACA-AU 1 173733004 173733004 single base substitution A G intron_variant PACA-AU 1 173734020 173734023 deletion of <=200bp AAAG - intron_variant PACA-AU 1 173734498 173734498 single base substitution C T intron_variant PACA-AU 1 173735259 173735259 single base substitution C G intron_variant PACA-AU 1 173735787 173735787 single base substitution A G intron_variant PACA-AU 1 173736022 173736022 single base substitution A C intron_variant PACA-AU 1 173737705 173737705 single base substitution C T intron_variant PACA-AU 1 173739625 173739625 single base substitution T G intron_variant PACA-AU 1 173743514 173743514 single base substitution G A missense_variant A267T 799G>A PACA-AU 1 173743514 173743514 single base substitution G A missense_variant A456T 1366G>A PACA-AU 1 173745909 173745909 single base substitution T G intron_variant PACA-AU 1 173747418 173747418 single base substitution T C intron_variant PACA-AU 1 173747418 173747418 single base substitution T C upstream_gene_variant PACA-AU 1 173749502 173749502 single base substitution G C intron_variant PACA-AU 1 173749502 173749502 single base substitution G C upstream_gene_variant PACA-AU 1 173750191 173750191 single base substitution T G intron_variant PACA-AU 1 173750191 173750191 single base substitution T G upstream_gene_variant PACA-AU 1 173752967 173752967 single base substitution T C intron_variant PACA-AU 1 173754896 173754896 single base substitution A C 3_prime_UTR_variant PACA-AU 1 173754896 173754896 single base substitution A C downstream_gene_variant PACA-AU 1 173760445 173760445 single base substitution A T downstream_gene_variant PACA-CA 1 173679349 173679349 single base substitution G T upstream_gene_variant PACA-CA 1 173683218 173683218 single base substitution T C upstream_gene_variant PACA-CA 1 173684400 173684400 single base substitution C G intron_variant PACA-CA 1 173684400 173684400 single base substitution C G upstream_gene_variant PACA-CA 1 173686852 173686852 single base substitution A G intron_variant PACA-CA 1 173695308 173695308 single base substitution C G intron_variant PACA-CA 1 173695581 173695581 single base substitution G A intron_variant PACA-CA 1 173696656 173696656 single base substitution A C intron_variant PACA-CA 1 173701407 173701407 single base substitution G T intron_variant PACA-CA 1 173702200 173702200 single base substitution C A intron_variant PACA-CA 1 173702770 173702770 single base substitution G A intron_variant PACA-CA 1 173703674 173703674 single base substitution A T downstream_gene_variant PACA-CA 1 173703674 173703674 single base substitution A T intron_variant PACA-CA 1 173706602 173706602 single base substitution G T downstream_gene_variant PACA-CA 1 173706602 173706602 single base substitution G T intron_variant PACA-CA 1 173707047 173707047 single base substitution C T downstream_gene_variant PACA-CA 1 173707047 173707047 single base substitution C T intron_variant PACA-CA 1 173714391 173714391 single base substitution A T intron_variant PACA-CA 1 173716297 173716297 single base substitution A G intron_variant PACA-CA 1 173716802 173716802 single base substitution T C intron_variant PACA-CA 1 173717071 173717071 single base substitution C T intron_variant PACA-CA 1 173719471 173719471 single base substitution C T intron_variant PACA-CA 1 173719506 173719506 single base substitution T C intron_variant PACA-CA 1 173722304 173722304 single base substitution C T intron_variant PACA-CA 1 173723826 173723826 single base substitution A T intron_variant PACA-CA 1 173724450 173724450 single base substitution G A intron_variant PACA-CA 1 173729454 173729454 single base substitution A C intron_variant PACA-CA 1 173730175 173730175 single base substitution A C intron_variant PACA-CA 1 173732171 173732171 single base substitution C T intron_variant PACA-CA 1 173732561 173732561 single base substitution T G intron_variant PACA-CA 1 173736200 173736200 single base substitution T G intron_variant PACA-CA 1 173739052 173739052 single base substitution T C intron_variant PACA-CA 1 173741167 173741167 single base substitution A G intron_variant PACA-CA 1 173741902 173741902 single base substitution A C intron_variant PACA-CA 1 173747345 173747345 single base substitution C T intron_variant PACA-CA 1 173747345 173747345 single base substitution C T upstream_gene_variant PACA-CA 1 173750799 173750799 single base substitution C G intron_variant PACA-CA 1 173750799 173750799 single base substitution C G upstream_gene_variant PACA-CA 1 173753693 173753693 single base substitution C T intron_variant PACA-CA 1 173753754 173753754 single base substitution C A intron_variant PACA-CA 1 173754174 173754174 single base substitution A C intron_variant PACA-CA 1 173757663 173757663 single base substitution C T downstream_gene_variant PACA-CA 1 173757946 173757946 single base substitution C T downstream_gene_variant PACA-CA 1 173758002 173758002 single base substitution G A downstream_gene_variant PACA-CA 1 173758112 173758112 single base substitution A T downstream_gene_variant PAEN-AU 1 173680241 173680241 single base substitution A G upstream_gene_variant PAEN-AU 1 173725657 173725657 single base substitution A G intron_variant PAEN-AU 1 173746989 173746989 single base substitution G A intron_variant PAEN-AU 1 173746989 173746989 single base substitution G A upstream_gene_variant PAEN-IT 1 173693952 173693952 single base substitution G A intron_variant PBCA-DE 1 173679941 173679941 single base substitution G A upstream_gene_variant PBCA-DE 1 173696796 173696796 single base substitution A G intron_variant PBCA-DE 1 173710792 173710792 single base substitution G C intron_variant PBCA-DE 1 173712706 173712706 single base substitution A G intron_variant PBCA-DE 1 173716109 173716109 insertion of <=200bp - C intron_variant PBCA-DE 1 173719302 173719302 single base substitution T A intron_variant PBCA-DE 1 173745312 173745312 single base substitution C A intron_variant PRAD-CA 1 173696152 173696152 single base substitution G C intron_variant PRAD-UK 1 173680414 173680414 single base substitution G A upstream_gene_variant PRAD-UK 1 173684046 173684046 single base substitution G T upstream_gene_variant PRAD-UK 1 173688238 173688238 single base substitution C T intron_variant PRAD-UK 1 173712955 173712955 single base substitution T G intron_variant PRAD-UK 1 173717103 173717103 single base substitution C T intron_variant PRAD-UK 1 173717871 173717900 deletion of <=200bp AAAACTTAAAGTATAATTTAAAAAATCAGA - intron_variant PRAD-UK 1 173747654 173747654 single base substitution T G intron_variant PRAD-UK 1 173747654 173747654 single base substitution T G upstream_gene_variant PRAD-UK 1 173748071 173748071 insertion of <=200bp - T intron_variant PRAD-UK 1 173748071 173748071 insertion of <=200bp - T upstream_gene_variant READ-US 1 173722410 173722410 single base substitution G T missense_variant G272V 815G>T READ-US 1 173722410 173722410 single base substitution G T missense_variant G83V 248G>T READ-US 1 173754310 173754310 single base substitution C T exon_variant READ-US 1 173754310 173754310 single base substitution C T synonymous_variant G396G 1188C>T READ-US 1 173754310 173754310 single base substitution C T synonymous_variant G585G 1755C>T RECA-EU 1 173685987 173685987 single base substitution C T intron_variant RECA-EU 1 173719436 173719436 single base substitution T A intron_variant RECA-EU 1 173720966 173720966 single base substitution G A missense_variant D221N 661G>A RECA-EU 1 173720966 173720966 single base substitution G A missense_variant D32N 94G>A RECA-EU 1 173721097 173721097 single base substitution C G intron_variant RECA-EU 1 173723513 173723513 single base substitution G T intron_variant RECA-EU 1 173733626 173733626 single base substitution A G intron_variant RECA-EU 1 173743449 173743449 single base substitution A T missense_variant D245V 734A>T RECA-EU 1 173743449 173743449 single base substitution A T missense_variant D434V 1301A>T RECA-EU 1 173759743 173759743 single base substitution T A downstream_gene_variant RECA-EU 1 173760101 173760101 single base substitution G T downstream_gene_variant SKCA-BR 1 173679501 173679501 single base substitution G A upstream_gene_variant SKCA-BR 1 173680221 173680221 single base substitution G A upstream_gene_variant SKCA-BR 1 173680594 173680594 single base substitution A C upstream_gene_variant SKCA-BR 1 173680692 173680692 single base substitution G A upstream_gene_variant SKCA-BR 1 173681062 173681062 single base substitution G A upstream_gene_variant SKCA-BR 1 173685441 173685441 single base substitution C T intron_variant SKCA-BR 1 173691826 173691826 insertion of <=200bp - AT intron_variant SKCA-BR 1 173698497 173698497 single base substitution C T intron_variant SKCA-BR 1 173700630 173700630 single base substitution A G intron_variant SKCA-BR 1 173711722 173711722 single base substitution T A intron_variant SKCA-BR 1 173712258 173712260 deletion of <=200bp TAA - intron_variant SKCA-BR 1 173713956 173713956 single base substitution C T intron_variant SKCA-BR 1 173718552 173718552 single base substitution C T intron_variant SKCA-BR 1 173720261 173720261 single base substitution T G intron_variant SKCA-BR 1 173721904 173721904 single base substitution C T intron_variant SKCA-BR 1 173726820 173726820 single base substitution G A intron_variant SKCA-BR 1 173728078 173728078 single base substitution C G intron_variant SKCA-BR 1 173733005 173733005 insertion of <=200bp - TA intron_variant SKCA-BR 1 173733780 173733780 single base substitution C T intron_variant SKCA-BR 1 173734466 173734466 single base substitution C A intron_variant SKCA-BR 1 173735570 173735570 single base substitution A G intron_variant SKCA-BR 1 173736536 173736536 single base substitution T C intron_variant SKCA-BR 1 173737444 173737444 single base substitution C T intron_variant SKCA-BR 1 173740250 173740250 single base substitution G A intron_variant SKCA-BR 1 173743529 173743529 single base substitution T G missense_variant F272V 814T>G SKCA-BR 1 173743529 173743529 single base substitution T G missense_variant F461V 1381T>G SKCA-BR 1 173750197 173750197 single base substitution A G intron_variant SKCA-BR 1 173750197 173750197 single base substitution A G upstream_gene_variant SKCA-BR 1 173750949 173750949 single base substitution G T intron_variant SKCA-BR 1 173750949 173750949 single base substitution G T upstream_gene_variant SKCA-BR 1 173754337 173754337 single base substitution T G exon_variant SKCA-BR 1 173754337 173754337 single base substitution T G synonymous_variant G405G 1215T>G SKCA-BR 1 173754337 173754337 single base substitution T G synonymous_variant G594G 1782T>G SKCA-BR 1 173754934 173754934 single base substitution A T 3_prime_UTR_variant SKCA-BR 1 173754934 173754934 single base substitution A T downstream_gene_variant SKCA-BR 1 173757567 173757569 deletion of <=200bp CTT - downstream_gene_variant SKCA-BR 1 173757586 173757586 single base substitution C T downstream_gene_variant SKCM-US 1 173702865 173702865 single base substitution C T exon_variant SKCM-US 1 173702865 173702865 single base substitution C T intron_variant SKCM-US 1 173702865 173702865 single base substitution C T stop_gained R13* 37C>T SKCM-US 1 173702872 173702872 single base substitution G A exon_variant SKCM-US 1 173702872 173702872 single base substitution G A intron_variant SKCM-US 1 173702872 173702872 single base substitution G A missense_variant G15E 44G>A SKCM-US 1 173702945 173702945 single base substitution A T exon_variant SKCM-US 1 173702945 173702945 single base substitution A T intron_variant SKCM-US 1 173702945 173702945 single base substitution A T missense_variant Q39H 117A>T SKCM-US 1 173702979 173702979 single base substitution C T downstream_gene_variant SKCM-US 1 173702979 173702979 single base substitution C T exon_variant SKCM-US 1 173702979 173702979 single base substitution C T intron_variant SKCM-US 1 173702979 173702979 single base substitution C T missense_variant P51S 151C>T SKCM-US 1 173703100 173703100 single base substitution C T downstream_gene_variant SKCM-US 1 173703100 173703100 single base substitution C T exon_variant SKCM-US 1 173703100 173703100 single base substitution C T intron_variant SKCM-US 1 173703100 173703100 single base substitution C T missense_variant P91L 272C>T SKCM-US 1 173703101 173703101 single base substitution C T downstream_gene_variant SKCM-US 1 173703101 173703101 single base substitution C T exon_variant SKCM-US 1 173703101 173703101 single base substitution C T intron_variant SKCM-US 1 173703101 173703101 single base substitution C T synonymous_variant P91P 273C>T SKCM-US 1 173703375 173703375 single base substitution C T downstream_gene_variant SKCM-US 1 173703375 173703375 single base substitution C T exon_variant SKCM-US 1 173703375 173703375 single base substitution C T intron_variant SKCM-US 1 173703375 173703375 single base substitution C T missense_variant R183C 547C>T SKCM-US 1 173725152 173725152 single base substitution C T synonymous_variant I125I 375C>T SKCM-US 1 173725152 173725152 single base substitution C T synonymous_variant I314I 942C>T SKCM-US 1 173744862 173744862 single base substitution G A missense_variant D318N 952G>A SKCM-US 1 173744862 173744862 single base substitution G A missense_variant D507N 1519G>A SKCM-US 1 173744919 173744919 single base substitution A G missense_variant R337G 1009A>G SKCM-US 1 173744919 173744919 single base substitution A G missense_variant R526G 1576A>G STAD-US 1 173702865 173702865 single base substitution C T exon_variant STAD-US 1 173702865 173702865 single base substitution C T intron_variant STAD-US 1 173702865 173702865 single base substitution C T stop_gained R13* 37C>T STAD-US 1 173720977 173720977 single base substitution C T synonymous_variant N224N 672C>T STAD-US 1 173720977 173720977 single base substitution C T synonymous_variant N35N 105C>T STAD-US 1 173726131 173726131 single base substitution T C synonymous_variant S139S 417T>C STAD-US 1 173726131 173726131 single base substitution T C synonymous_variant S328S 984T>C STAD-US 1 173735385 173735385 single base substitution G A missense_variant V229M 685G>A STAD-US 1 173735385 173735385 single base substitution G A missense_variant V418M 1252G>A STAD-US 1 173751271 173751271 single base substitution G T exon_variant STAD-US 1 173751271 173751271 single base substitution G T missense_variant A361S 1081G>T STAD-US 1 173751271 173751271 single base substitution G T missense_variant A550S 1648G>T UCEC-US 1 173702952 173702952 single base substitution C T exon_variant UCEC-US 1 173702952 173702952 single base substitution C T intron_variant UCEC-US 1 173702952 173702952 single base substitution C T missense_variant R42C 124C>T UCEC-US 1 173702998 173702998 single base substitution T C downstream_gene_variant UCEC-US 1 173702998 173702998 single base substitution T C exon_variant UCEC-US 1 173702998 173702998 single base substitution T C intron_variant UCEC-US 1 173702998 173702998 single base substitution T C missense_variant V57A 170T>C UCEC-US 1 173703126 173703126 single base substitution G A downstream_gene_variant UCEC-US 1 173703126 173703126 single base substitution G A exon_variant UCEC-US 1 173703126 173703126 single base substitution G A intron_variant UCEC-US 1 173703126 173703126 single base substitution G A missense_variant E100K 298G>A UCEC-US 1 173703366 173703366 single base substitution C T downstream_gene_variant UCEC-US 1 173703366 173703366 single base substitution C T exon_variant UCEC-US 1 173703366 173703366 single base substitution C T intron_variant UCEC-US 1 173703366 173703366 single base substitution C T missense_variant H180Y 538C>T UCEC-US 1 173722367 173722367 single base substitution C T missense_variant R258C 772C>T UCEC-US 1 173722367 173722367 single base substitution C T missense_variant R69C 205C>T UCEC-US 1 173725142 173725142 single base substitution G A missense_variant R122Q 365G>A UCEC-US 1 173725142 173725142 single base substitution G A missense_variant R311Q 932G>A UCEC-US 1 173726140 173726140 single base substitution C T synonymous_variant A142A 426C>T UCEC-US 1 173726140 173726140 single base substitution C T synonymous_variant A331A 993C>T UCEC-US 1 173726216 173726216 single base substitution G A missense_variant G168R 502G>A UCEC-US 1 173726216 173726216 single base substitution G A missense_variant G357R 1069G>A UCEC-US 1 173744870 173744870 single base substitution C A synonymous_variant I320I 960C>A UCEC-US 1 173744870 173744870 single base substitution C A synonymous_variant I509I 1527C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CK-5913-01 COSM1336357 c.1013A>G p.Y338C Substitution - Missense 1:173757021-173757021 + TCGA-B5-A0JY-01 COSM899768 c.124C>T p.R42C Substitution - Missense 1:173733813-173733813 + Pat_45_B COSM5844534 c.23G>A p.R8K Substitution - Missense 1:173716066-173716066 + BD236T COSM5352511 c.1295+7delT p.? Unknown 1:173766296-173766296 + I2L-P19Tb-Tumor-Biopsy COSM5352511 c.1295+7delT p.? Unknown 1:173766296-173766296 + CHC2362T COSM4957018 c.1529A>G p.Y510C Substitution - Missense 1:173775733-173775733 + TCGA-BS-A0TJ-01 COSM899777 c.993C>T p.A331A Substitution - coding silent 1:173757001-173757001 + Pat_53_B COSM5844536 c.1010G>A p.R337Q Substitution - Missense 1:173757018-173757018 + HCA7 COSM4611989 c.871delA p.N292fs*11 Deletion - Frameshift 1:173755942-173755942 + TCGA-G9-6333-01 COSM3671506 c.1617C>A p.A539A Substitution - coding silent 1:173775821-173775821 + BD179T COSM4507179 c.739C>G p.R247G Substitution - Missense 1:173751905-173751905 + TCGA-EB-A24D-01 COSM3478536 c.273C>T p.P91P Substitution - coding silent 1:173733962-173733962 + 234 COSM3730827 c.560G>T p.R187M Substitution - Missense 1:173734249-173734249 + C0098T COSM4140947 c.661G>A p.D221N Substitution - Missense 1:173751827-173751827 + 6115242 COSM5572927 c.24-2A>G p.? Unknown 1:173733711-173733711 + TCGA-AG-3881-01 COSM288391 c.680G>A p.S227N Substitution - Missense 1:173751846-173751846 + TCGA-57-1584-01 COSM82218 c.1359G>C p.V453V Substitution - coding silent 1:173774368-173774368 + HCT15 COSM2075656 c.1393G>A p.V465I Substitution - Missense 1:173774402-173774402 + TCGA-AP-A056-01 COSM899770 c.298G>A p.E100K Substitution - Missense 1:173733987-173733987 + ESCC-F55 COSM5048035 c.1053G>C p.M351I Substitution - Missense 1:173757061-173757061 + CSCC-27-T COSM4511855 c.882C>T p.L294L Substitution - coding silent 1:173755953-173755953 + CCK81 COSM2075657 c.1458A>G p.R486R Substitution - coding silent 1:173775662-173775662 + TCGA-66-2785-01 COSM677081 c.1291G>C p.E431Q Substitution - Missense 1:173766285-173766285 + LUAD-B01970 COSM355945 c.835A>G p.S279G Substitution - Missense 1:173753291-173753291 + BD6T COSM5498754 c.1631G>A p.R544H Substitution - Missense 1:173775835-173775835 + PD12803a COSM3769904 c.1394T>C p.V465A Substitution - Missense 1:173774403-173774403 + BD124T COSM5352511 c.1295+7delT p.? Unknown 1:173766296-173766296 + TCGA-A3-3363-01 COSM1491881 c.656C>G p.S219C Substitution - Missense 1:173751822-173751822 + 3N08-VS-3T08 COSM4978970 c.181C>G p.L61V Substitution - Missense 1:173733870-173733870 + TCGA-BR-4361-01 COSM4025219 c.1648G>T p.A550S Substitution - Missense 1:173782133-173782133 + TCGA-AA-A00N-01 COSM275759 c.1116C>T p.G372G Substitution - coding silent 1:173757124-173757124 + TCGA-66-2770-01 COSM677082 c.700G>T p.A234S Substitution - Missense 1:173751866-173751866 + T276 COSM4696479 c.1277G>A p.C426Y Substitution - Missense 1:173766271-173766271 + ESCC-D20 COSM5045840 c.1374_1376delAGG p.G460delG Deletion - In frame 1:173774383-173774385 + TCGA-BT-A42C-01 COSM282277 c.1771C>T p.R591W Substitution - Missense 1:173785188-173785188 + CSCC-49-T COSM4507179 c.739C>G p.R247G Substitution - Missense 1:173751905-173751905 + CHEWS025 COSM4576595 c.335G>A p.R112Q Substitution - Missense 1:173734024-173734024 + TCGA-EE-A29D-06 COSM3478535 c.272C>T p.P91L Substitution - Missense 1:173733961-173733961 + TCGA-22-5485-01 COSM677084 c.172A>T p.I58F Substitution - Missense 1:173733861-173733861 + TCGA-AA-3492-01 COSM1336359 c.1346G>A p.R449K Substitution - Missense 1:173774355-173774355 + PD4937a COSM162025 c.730C>G p.Q244E Substitution - Missense 1:173751896-173751896 + TCGA-EB-A1NK-01 COSM3478535 c.272C>T p.P91L Substitution - Missense 1:173733961-173733961 + TCGA-06-0750 COSM2151980 c.1601G>T p.W534L Substitution - Missense 1:173775805-173775805 + SC_9010 COSM5568636 c.1816T>C p.S606P Substitution - Missense 1:173785233-173785233 + TCGA-BP-5199-01 COSM463436 c.297A>T p.G99G Substitution - coding silent 1:173733986-173733986 + TCGA-D1-A176-01 COSM899771 c.538C>T p.H180Y Substitution - Missense 1:173734227-173734227 + TCGA-AA-3510-01 COSM1336354 c.23+1G>T p.? Unknown 1:173716067-173716067 + TCGA-FD-A3SS-01 COSM3789104 c.532G>A p.D178N Substitution - Missense 1:173734221-173734221 + 8035125 COSM3385417 c.1366G>A p.A456T Substitution - Missense 1:173774375-173774375 + C0025T COSM4140948 c.1301A>T p.D434V Substitution - Missense 1:173774310-173774310 + CSB1 COSM5025438 c.831C>T p.I277I Substitution - coding silent 1:173753287-173753287 + TCGA-C5-A3HE-01 COSM4827661 c.1183G>A p.D395N Substitution - Missense 1:173766177-173766177 + 234 COSM3730826 c.548G>A p.R183H Substitution - Missense 1:173734237-173734237 + HCT15 COSM1668215 c.326T>C p.V109A Substitution - Missense 1:173734015-173734015 + P-Thy025 COSM5094904 c.1687G>C p.D563H Substitution - Missense 1:173782172-173782172 + TCGA-CG-4442-01 COSM4025218 c.1252G>A p.V418M Substitution - Missense 1:173766246-173766246 + TCGA-CM-5861-01 COSM1336362 c.1626A>G p.S542S Substitution - coding silent 1:173775830-173775830 + TCGA-ER-A2ND-06 COSM3478534 c.151C>T p.P51S Substitution - Missense 1:173733840-173733840 + HCT-15 COSM1668215 c.326T>C p.V109A Substitution - Missense 1:173734015-173734015 + PT37 COSM5917245 c.346G>A p.E116K Substitution - Missense 1:173734035-173734035 + TCGA-BM-6198-01 COSM3418358 c.815G>T p.G272V Substitution - Missense 1:173753271-173753271 + TCGA-AX-A05Z-01 COSM899779 c.1527C>A p.I509I Substitution - coding silent 1:173775731-173775731 + TCGA-BR-4363-01 COSM4025216 c.672C>T p.N224N Substitution - coding silent 1:173751838-173751838 + TCGA-DA-A1HW-06 COSM3478538 c.942C>T p.I314I Substitution - coding silent 1:173756013-173756013 + TCGA-EE-A3J5-06 COSM3478532 c.37C>T p.R13* Substitution - Nonsense 1:173733726-173733726 + Pat_28_B COSM5844537 c.1055G>A p.S352N Substitution - Missense 1:173757063-173757063 + TCGA-AM-5820-01 COSM3689143 c.1771C>A p.R591R Substitution - coding silent 1:173785188-173785188 + TCGA-BS-A0UV-01 COSM899775 c.772C>T p.R258C Substitution - Missense 1:173753228-173753228 + TCGA-AO-A03R-01 COSM424624 c.417G>T p.Q139H Substitution - Missense 1:173734106-173734106 + TCGA-A5-A0G9-01 COSM899767 c.37C>A p.R13R Substitution - coding silent 1:173733726-173733726 + T55 COSM4696481 c.1700A>G p.Y567C Substitution - Missense 1:173782185-173782185 + ESCC_BICR_032T COSM899778 c.1069G>A p.G357R Substitution - Missense 1:173757077-173757077 + LUAD-RT-S01477 COSM377372 c.1673C>G p.A558G Substitution - Missense 1:173782158-173782158 + TCGA-AX-A0IS-01 COSM899774 c.672C>A p.N224K Substitution - Missense 1:173751838-173751838 + TCGA-06-0750-01 COSM2151980 c.1601G>T p.W534L Substitution - Missense 1:173775805-173775805 + S02397 COSM5698969 c.1188G>A p.V396V Substitution - coding silent 1:173766182-173766182 + NCI-H835 COSM2075652 c.1141A>T p.S381C Substitution - Missense 1:173757149-173757149 + TCGA-AZ-6598-01 COSM1336356 c.125G>A p.R42H Substitution - Missense 1:173733814-173733814 + Pat_76_A COSM5844539 c.1516delC p.Q506fs*3 Deletion - Frameshift 1:173775720-173775720 + PD5942a COSM5785283 c.1654G>A p.V552I Substitution - Missense 1:173782139-173782139 + TCGA-IR-A3LA-01 COSM4845588 c.1349G>T p.R450I Substitution - Missense 1:173774358-173774358 + TCGA-EE-A2A2-06 COSM3478535 c.272C>T p.P91L Substitution - Missense 1:173733961-173733961 + CHC2362T COSM4957018 c.1529A>G p.Y510C Substitution - Missense 1:173775733-173775733 + RK170_C01 COSM1626631 c.489A>C p.R163S Substitution - Missense 1:173734178-173734178 + Pat_63_B COSM5844538 c.1220G>A p.G407D Substitution - Missense 1:173766214-173766214 + 2521252 COSM5888573 c.754C>T p.Q252* Substitution - Nonsense 1:173751920-173751920 + RK041_C01 COSM1626633 c.1468A>G p.I490V Substitution - Missense 1:173775672-173775672 + TCGA-D9-A6EC-06 COSM4404316 c.1576A>G p.R526G Substitution - Missense 1:173775780-173775780 + TCGA-EE-A20H-06 COSM3478537 c.547C>T p.R183C Substitution - Missense 1:173734236-173734236 + TCGA-EE-A3J3-06 COSM3863575 c.44G>A p.G15E Substitution - Missense 1:173733733-173733733 + TCGA-D3-A5GO-06 COSM3478533 c.117A>T p.Q39H Substitution - Missense 1:173733806-173733806 + S00842 COSM2075643 c.805G>A p.G269S Substitution - Missense 1:173753261-173753261 + SJOS007_D COSM5024115 c.314G>A p.R105H Substitution - Missense 1:173734003-173734003 + T2932 COSM4696480 c.1658A>G p.N553S Substitution - Missense 1:173782143-173782143 + TCGA-CG-5721-01 COSM4025217 c.984T>C p.S328S Substitution - coding silent 1:173756992-173756992 + TCGA-CG-4442-01 COSM3478532 c.37C>T p.R13* Substitution - Nonsense 1:173733726-173733726 + TCGA-AP-A051-01 COSM899776 c.932G>A p.R311Q Substitution - Missense 1:173756003-173756003 + C658 COSM4443166 c.548G>T p.R183L Substitution - Missense 1:173734237-173734237 + LC_S45 COSM1185658 c.122C>G p.A41G Substitution - Missense 1:173733811-173733811 + PT25 COSM5904690 c.1391C>T p.A464V Substitution - Missense 1:173774400-173774400 + RK212_C01 COSM3740825 c.380A>G p.Y127C Substitution - Missense 1:173734069-173734069 + ESCC-F25 COSM5047376 c.405G>C p.E135D Substitution - Missense 1:173734094-173734094 + TCGA-A1-A0SE-01 COSM424625 c.885A>G p.L295L Substitution - coding silent 1:173755956-173755956 + HN_62854 COSM124003 c.1544G>C p.R515T Substitution - Missense 1:173775748-173775748 + TCGA-AA-A010-01 COSM282277 c.1771C>T p.R591W Substitution - Missense 1:173785188-173785188 + NB-0230 COSM1285804 c.1120G>T p.D374Y Substitution - Missense 1:173757128-173757128 + TCGA-D3-A1Q7-06 COSM3478539 c.1519G>A p.D507N Substitution - Missense 1:173775723-173775723 + sysucc-882T COSM5446961 c.1696A>C p.T566P Substitution - Missense 1:173782181-173782181 + TCGA-AP-A0LM-01 COSM899778 c.1069G>A p.G357R Substitution - Missense 1:173757077-173757077 + TCGA-AP-A0LH-01 COSM899773 c.632C>T p.A211V Substitution - Missense 1:173751798-173751798 + PD4951a COSM5768504 c.1009C>T p.R337* Substitution - Nonsense 1:173757017-173757017 + C91 COSM4444236 c.892C>T p.Q298* Substitution - Nonsense 1:173755963-173755963 + TCGA-F5-6814-01 COSM3418359 c.1755C>T p.G585G Substitution - coding silent 1:173785172-173785172 + TCGA-AA-3666-01 COSM265814 c.978G>C p.W326C Substitution - Missense 1:173756986-173756986 + TCGA-D1-A17A-01 COSM899769 c.170T>C p.V57A Substitution - Missense 1:173733859-173733859 + I2L-P19Tb-Tumor-Organoid COSM5352511 c.1295+7delT p.? Unknown 1:173766296-173766296 + TCGA-AZ-4615-01 COSM899776 c.932G>A p.R311Q Substitution - Missense 1:173756003-173756003 + SWE-44 COSM1180034 c.254delT p.L86fs*24 Deletion - Frameshift 1:173733943-173733943 + DLD1 COSM1668215 c.326T>C p.V109A Substitution - Missense 1:173734015-173734015 + Pat_06_B COSM5844535 c.806G>A p.G269D Substitution - Missense 1:173753262-173753262 + TCGA-DB-A64L-01 COSM3966045 c.1121A>T p.D374V Substitution - Missense 1:173757129-173757129 + HCC061T COSM5805689 c.378G>T p.A126A Substitution - coding silent 1:173734067-173734067 + QC2-39-T2 COSM5655407 c.343G>A p.D115N Substitution - Missense 1:173734032-173734032 + TCGA-A8-A07E-01 COSM5832364 c.520_521delCG p.R174fs*4 Deletion - Frameshift 1:173734209-173734210 + CAL27 COSM2075618 c.32A>G p.N11S Substitution - Missense 1:173733721-173733721 + UD-SCC-2 COSM4225936 c.696C>G p.F232L Substitution - Missense 1:173751862-173751862 + RK035_C01 COSM1626632 c.1298A>G p.Y433C Substitution - Missense 1:173774307-173774307 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.495035 1q25.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D48G c.143A>G 1 173702971 STAD A G Missense p.I490V c.1468A>G 1 173744811 HC A G Missense p.Y433C c.1298A>G 1 173743446 HC A G Synonymous p.L295L c.885A>G 1 173725095 BRCA A T 3-UTRSNV . c.1827+1448A>T 1 173755830 DLBCL A T IntronicSNV . c.24-8047A>T 1 173694805 CLL A T IntronicSNV . c.597+7510A>T 1 173710935 CM A T Missense p.I58F c.172A>T 1 173703000 LUSC A T Synonymous p.G99G c.297A>T 1 173703125 RCCC C A Synonymous p.A539A c.1617C>A 1 173744960 PRAD C G Missense p.P473A c.1417C>G 1 173743565 COREAD C G Missense p.Q244E c.730C>G 1 173721035 BRCA C T Missense p.H180Y c.538C>T 1 173703366 UCEC C T Missense p.L415F c.1243C>T 1 173735376 CM C T Missense p.P51S c.151C>T 1 173702979 CM C T Missense p.P91L c.272C>T 1 173703100 CM C T Missense p.R183C c.547C>T 1 173703375 CM C T Nonsense p.R13* c.37C>T 1 173702865 CM C T Synonymous p.A331A c.993C>T 1 173726140 UCEC C T Synonymous p.I277I c.831C>T 1 173722426 BRCA C T Synonymous p.I314I c.942C>T 1 173725152 CM C T Synonymous p.L427L c.1281C>T 1 173735414 LUAD C T Synonymous p.N224N c.672C>T 1 173720977 STAD C T Synonymous p.P91P c.273C>T 1 173703101 CM G A Missense p.A369T c.1105G>A 1 173726252 LUAD G A Missense p.D507N c.1519G>A 1 173744862 CM G A Missense p.E134K c.400G>A 1 173703228 LUAD G A Missense p.E35K c.103G>A 1 173702931 LUAD G A Missense p.G15E c.44G>A 1 173702872 CM G A Missense p.G172S c.514G>A 1 173703342 STAD G A Missense p.S227N c.680G>A 1 173720985 COREAD G A Synonymous p.V74V c.222G>A 1 173703050 LUAD G C Missense p.D190H c.568G>C 1 173703396 LUAD G C Missense p.E525D c.1575G>C 1 173744918 HNSC G C Missense p.R515T c.1544G>C 1 173744887 HNSC G C Missense p.W326C c.978G>C 1 173726125 COREAD G C Synonymous p.V453V c.1359G>C 1 173743507 OV G T Missense p.A234S c.700G>T 1 173721005 LUSC G T Missense p.D374Y c.1120G>T 1 173726267 NB G T Missense p.E431D c.1293G>T 1 173735426 LUAD G T Missense p.Q139H c.417G>T 1 173703245 BRCA G T Missense p.R442L c.1325G>T 1 173743473 STAD G T Missense p.W534L c.1601G>T 1 173744944 GBM T C IntronicSNV . c.24-8052T>C 1 173694800 CLL T C IntronicSNV . c.24-8076T>C 1 173694776 CLL T C Missense p.V57A c.170T>C 1 173702998 UCEC