Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 56388274 56388274 + Missense_Mutation SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr17:56388274G>A c.3382C>T c.(3382-3384)Cca>Tca p.P1128S ACC 17 56388998 56388998 + Silent SNP G G T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr17:56388998G>T c.3015C>A c.(3013-3015)atC>atA p.I1005I BLCA 17 56382529 56382529 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr17:56382529C>T c.5437G>A c.(5437-5439)Gaa>Aaa p.E1813K BLCA 17 56385246 56385246 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr17:56385246C>T c.4788G>A c.(4786-4788)caG>caA p.Q1596Q BLCA 17 56386419 56386419 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr17:56386419C>T c.4214G>A c.(4213-4215)cGg>cAg p.R1405Q BLCA 17 56386652 56386652 + Silent SNP C C T TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 g.chr17:56386652C>T c.3981G>A c.(3979-3981)aaG>aaA p.K1327K BLCA 17 56387976 56387976 + Missense_Mutation SNP C C T TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr17:56387976C>T c.3596G>A c.(3595-3597)tGt>tAt p.C1199Y BLCA 17 56388027 56388027 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr17:56388027G>A c.3545C>T c.(3544-3546)gCa>gTa p.A1182V BLCA 17 56388554 56388554 + Silent SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 g.chr17:56388554G>C c.3102C>G c.(3100-3102)ccC>ccG p.P1034P BLCA 17 56388949 56388949 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:56388949A>C c.3064T>G c.(3064-3066)Tac>Gac p.Y1022D BLCA 17 56389358 56389358 + Missense_Mutation SNP G G C TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr17:56389358G>C c.2824C>G c.(2824-2826)Cag>Gag p.Q942E BLCA 17 56389469 56389469 + Missense_Mutation SNP C C T TCGA-FD-A3N6-01A-11D-A21A-08 TCGA-FD-A3N6-10A-01D-A21A-08 g.chr17:56389469C>T c.2713G>A c.(2713-2715)Ggc>Agc p.G905S BLCA 17 56389492 56389492 + Missense_Mutation SNP G G A TCGA-GU-AATQ-01A-11D-A391-08 TCGA-GU-AATQ-10A-01D-A394-08 g.chr17:56389492G>A c.2690C>T c.(2689-2691)tCt>tTt p.S897F BLCA 17 56389782 56389782 + Silent SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr17:56389782G>C c.2400C>G c.(2398-2400)ctC>ctG p.L800L BLCA 17 56390076 56390076 + Silent SNP G G C TCGA-XF-AAMF-01A-21D-A42E-08 TCGA-XF-AAMF-10A-01D-A42H-08 g.chr17:56390076G>C c.2106C>G c.(2104-2106)ctC>ctG p.L702L BLCA 17 56393466 56393466 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:56393466C>A c.2016G>T c.(2014-2016)gaG>gaT p.E672D BLCA 17 56395743 56395743 + Silent SNP G G A TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 g.chr17:56395743G>A c.1770C>T c.(1768-1770)ctC>ctT p.L590L BLCA 17 56397904 56397904 + Silent SNP C C T TCGA-DK-AA6M-01A-11D-A391-08 TCGA-DK-AA6M-10A-01D-A394-08 g.chr17:56397904C>T c.1461G>A c.(1459-1461)gtG>gtA p.V487V BLCA 17 56400102 56400102 + Silent SNP G G T TCGA-FD-A5C1-01A-11D-A289-08 TCGA-FD-A5C1-10A-01D-A289-08 g.chr17:56400102G>T c.1230C>A c.(1228-1230)ctC>ctA p.L410L BLCA 17 56400352 56400352 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 g.chr17:56400352C>A c.1153G>T c.(1153-1155)Gag>Tag p.E385* BLCA 17 56400389 56400389 + Silent SNP C C G TCGA-PQ-A6FI-01A-11D-A31L-08 TCGA-PQ-A6FI-10A-01D-A31J-08 g.chr17:56400389C>G c.1116G>C c.(1114-1116)ctG>ctC p.L372L BLCA 17 56404972 56404972 + Missense_Mutation SNP C C T TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr17:56404972C>T c.310G>A c.(310-312)Gag>Aag p.E104K BLCA 17 56405156 56405156 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr17:56405156G>A c.126C>T c.(124-126)atC>atT p.I42I BLCA 17 56405207 56405207 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr17:56405207A>G c.75T>C c.(73-75)caT>caC p.H25H BRCA 17 56384995 56384995 + Missense_Mutation SNP A A C TCGA-E2-A14N-01A-31D-A135-09 TCGA-E2-A14N-10A-01D-A135-09 g.chr17:56384995A>C c.4960T>G c.(4960-4962)Ttc>Gtc p.F1654V BRCA 17 56386480 56386480 + Missense_Mutation SNP C C G TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr17:56386480C>G c.4153G>C c.(4153-4155)Gag>Cag p.E1385Q BRCA 17 56389025 56389025 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 g.chr17:56389025C>G c.2988G>C c.(2986-2988)ttG>ttC p.L996F BRCA 17 56395674 56395674 + Silent SNP G G A TCGA-AN-A0FV-01A-11W-A019-09 TCGA-AN-A0FV-10A-01W-A021-09 g.chr17:56395674G>A c.1839C>T c.(1837-1839)atC>atT p.I613I BRCA 17 56400673 56400673 + Nonsense_Mutation SNP G G A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr17:56400673G>A c.1090C>T c.(1090-1092)Cga>Tga p.R364* BRCA 17 56403701 56403701 + Missense_Mutation SNP G G A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 g.chr17:56403701G>A c.523C>T c.(523-525)Cgc>Tgc p.R175C CESC 17 56382430 56382430 + Missense_Mutation SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chr17:56382430C>T c.5536G>A c.(5536-5538)Gag>Aag p.E1846K CESC 17 56385241 56385241 + Missense_Mutation SNP C C G TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr17:56385241C>G c.4793G>C c.(4792-4794)aGa>aCa p.R1598T CESC 17 56393399 56393399 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr17:56393399C>G c.2083G>C c.(2083-2085)Gat>Cat p.D695H CESC 17 56399684 56399684 + Silent SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr17:56399684G>A c.1407C>T c.(1405-1407)gtC>gtT p.V469V CESC 17 56399716 56399716 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr17:56399716G>A c.1375C>T c.(1375-1377)Cgg>Tgg p.R459W COAD 17 56385066 56385066 + Missense_Mutation SNP A A T TCGA-AA-A00W-01A-01W-A005-10 TCGA-AA-A00W-10A-01W-A005-10 g.chr17:56385066A>T c.4889T>A c.(4888-4890)tTt>tAt p.F1630Y COAD 17 56385076 56385076 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr17:56385076C>T c.4879G>A c.(4879-4881)Gtc>Atc p.V1627I COAD 17 56386063 56386063 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:56386063C>A c.4570G>T c.(4570-4572)Gat>Tat p.D1524Y COAD 17 56386089 56386089 + Missense_Mutation SNP C C A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:56386089C>A c.4544G>T c.(4543-4545)aGc>aTc p.S1515I COAD 17 56386099 56386099 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr17:56386099C>T c.4534G>A c.(4534-4536)Ggg>Agg p.G1512R COAD 17 56386200 56386200 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:56386200C>T c.4433G>A c.(4432-4434)cGt>cAt p.R1478H COAD 17 56386258 56386258 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:56386258T>C c.4375A>G c.(4375-4377)Agg>Ggg p.R1459G COAD 17 56386556 56386556 + Silent SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:56386556C>T c.4077G>A c.(4075-4077)ccG>ccA p.P1359P COAD 17 56386562 56386562 + Silent SNP A A G TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr17:56386562A>G c.4071T>C c.(4069-4071)ccT>ccC p.P1357P COAD 17 56386668 56386668 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:56386668T>G c.3965A>C c.(3964-3966)cAg>cCg p.Q1322P COAD 17 56387923 56387923 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:56387923C>T c.3649G>A c.(3649-3651)Gag>Aag p.E1217K COAD 17 56387924 56387924 + Silent SNP G G A TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr17:56387924G>A c.3648C>T c.(3646-3648)acC>acT p.T1216T COAD 17 56388224 56388224 + Silent SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:56388224G>A c.3432C>T c.(3430-3432)caC>caT p.H1144H COAD 17 56388238 56388238 + Missense_Mutation SNP C C G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr17:56388238C>G c.3418G>C c.(3418-3420)Gca>Cca p.A1140P COAD 17 56388356 56388356 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:56388356C>T c.3300G>A c.(3298-3300)gcG>gcA p.A1100A COAD 17 56388371 56388371 + Missense_Mutation SNP G G C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:56388371G>C c.3285C>G c.(3283-3285)agC>agG p.S1095R COAD 17 56388380 56388380 + Silent SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:56388380C>T c.3276G>A c.(3274-3276)ccG>ccA p.P1092P COAD 17 56389824 56389824 + Silent SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:56389824G>A c.2358C>T c.(2356-2358)ggC>ggT p.G786G COAD 17 56389836 56389836 + Silent SNP C C T TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr17:56389836C>T c.2346G>A c.(2344-2346)ccG>ccA p.P782P COAD 17 56389844 56389844 + Missense_Mutation SNP G G T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:56389844G>T c.2338C>A c.(2338-2340)Cca>Aca p.P780T COAD 17 56396603 56396603 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:56396603C>T c.1547G>A c.(1546-1548)aGc>aAc p.S516N COAD 17 56397481 56397481 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:56397481C>T c.1483G>A c.(1483-1485)Gat>Aat p.D495N COAD 17 56399748 56399748 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr17:56399748C>T c.1343G>A c.(1342-1344)cGg>cAg p.R448Q COAD 17 56400121 56400121 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:56400121G>A c.1211C>T c.(1210-1212)gCg>gTg p.A404V COAD 17 56400710 56400710 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:56400710G>A c.1053C>T c.(1051-1053)tgC>tgT p.C351C COAD 17 56400901 56400901 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:56400901C>T c.948G>A c.(946-948)acG>acA p.T316T COAD 17 56403666 56403666 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:56403666C>T c.558G>A c.(556-558)acG>acA p.T186T COAD 17 56404078 56404078 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr17:56404078C>T c.407G>A c.(406-408)cGc>cAc p.R136H COAD 17 56404079 56404079 + Missense_Mutation SNP G G A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr17:56404079G>A c.406C>T c.(406-408)Cgc>Tgc p.R136C COADREAD 17 56385066 56385066 + Missense_Mutation SNP A A T TCGA-AA-A00W-01A-01W-A005-10 TCGA-AA-A00W-10A-01W-A005-10 g.chr17:56385066A>T c.4889T>A c.(4888-4890)tTt>tAt p.F1630Y COADREAD 17 56385076 56385076 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr17:56385076C>T c.4879G>A c.(4879-4881)Gtc>Atc p.V1627I COADREAD 17 56385076 56385076 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:56385076C>T c.4879G>A c.(4879-4881)Gtc>Atc p.V1627I COADREAD 17 56386063 56386063 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:56386063C>A c.4570G>T c.(4570-4572)Gat>Tat p.D1524Y COADREAD 17 56386089 56386089 + Missense_Mutation SNP C C A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:56386089C>A c.4544G>T c.(4543-4545)aGc>aTc p.S1515I COADREAD 17 56386099 56386099 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr17:56386099C>T c.4534G>A c.(4534-4536)Ggg>Agg p.G1512R COADREAD 17 56386200 56386200 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:56386200C>T c.4433G>A c.(4432-4434)cGt>cAt p.R1478H COADREAD 17 56386258 56386258 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:56386258T>C c.4375A>G c.(4375-4377)Agg>Ggg p.R1459G COADREAD 17 56386556 56386556 + Silent SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:56386556C>T c.4077G>A c.(4075-4077)ccG>ccA p.P1359P COADREAD 17 56386562 56386562 + Silent SNP A A G TCGA-D5-5541-01A-01D-1650-10 TCGA-D5-5541-10A-02D-1650-10 g.chr17:56386562A>G c.4071T>C c.(4069-4071)ccT>ccC p.P1357P COADREAD 17 56386595 56386595 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:56386595C>A c.4038G>T c.(4036-4038)gaG>gaT p.E1346D COADREAD 17 56386607 56386607 + Missense_Mutation SNP G G T TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr17:56386607G>T c.4026C>A c.(4024-4026)gaC>gaA p.D1342E COADREAD 17 56386668 56386668 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:56386668T>G c.3965A>C c.(3964-3966)cAg>cCg p.Q1322P COADREAD 17 56387923 56387923 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:56387923C>T c.3649G>A c.(3649-3651)Gag>Aag p.E1217K COADREAD 17 56387924 56387924 + Silent SNP G G A TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr17:56387924G>A c.3648C>T c.(3646-3648)acC>acT p.T1216T COADREAD 17 56388224 56388224 + Silent SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:56388224G>A c.3432C>T c.(3430-3432)caC>caT p.H1144H COADREAD 17 56388238 56388238 + Missense_Mutation SNP C C G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr17:56388238C>G c.3418G>C c.(3418-3420)Gca>Cca p.A1140P COADREAD 17 56388356 56388356 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:56388356C>T c.3300G>A c.(3298-3300)gcG>gcA p.A1100A COADREAD 17 56388371 56388371 + Missense_Mutation SNP G G C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:56388371G>C c.3285C>G c.(3283-3285)agC>agG p.S1095R COADREAD 17 56388380 56388380 + Silent SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:56388380C>T c.3276G>A c.(3274-3276)ccG>ccA p.P1092P COADREAD 17 56389824 56389824 + Silent SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:56389824G>A c.2358C>T c.(2356-2358)ggC>ggT p.G786G COADREAD 17 56389836 56389836 + Silent SNP C C T TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr17:56389836C>T c.2346G>A c.(2344-2346)ccG>ccA p.P782P COADREAD 17 56389844 56389844 + Missense_Mutation SNP G G T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:56389844G>T c.2338C>A c.(2338-2340)Cca>Aca p.P780T COADREAD 17 56396603 56396603 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:56396603C>T c.1547G>A c.(1546-1548)aGc>aAc p.S516N COADREAD 17 56397481 56397481 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:56397481C>T c.1483G>A c.(1483-1485)Gat>Aat p.D495N COADREAD 17 56399748 56399748 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr17:56399748C>T c.1343G>A c.(1342-1344)cGg>cAg p.R448Q COADREAD 17 56400121 56400121 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:56400121G>A c.1211C>T c.(1210-1212)gCg>gTg p.A404V COADREAD 17 56400710 56400710 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:56400710G>A c.1053C>T c.(1051-1053)tgC>tgT p.C351C COADREAD 17 56400901 56400901 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:56400901C>T c.948G>A c.(946-948)acG>acA p.T316T COADREAD 17 56403666 56403666 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:56403666C>T c.558G>A c.(556-558)acG>acA p.T186T COADREAD 17 56404078 56404078 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr17:56404078C>T c.407G>A c.(406-408)cGc>cAc p.R136H COADREAD 17 56404079 56404079 + Missense_Mutation SNP G G A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr17:56404079G>A c.406C>T c.(406-408)Cgc>Tgc p.R136C DLBC 17 56386732 56386732 + Missense_Mutation SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr17:56386732C>T c.3901G>A c.(3901-3903)Gac>Aac p.D1301N DLBC 17 56388356 56388356 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:56388356C>T c.3300G>A c.(3298-3300)gcG>gcA p.A1100A DLBC 17 56405046 56405046 + Missense_Mutation SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr17:56405046C>T c.236G>A c.(235-237)gGa>gAa p.G79E ESCA 17 56383220 56383220 + Nonsense_Mutation SNP G G T TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr17:56383220G>T c.5231C>A c.(5230-5232)tCg>tAg p.S1744* ESCA 17 56385999 56385999 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr17:56385999C>T c.4634G>A c.(4633-4635)gGc>gAc p.G1545D ESCA 17 56387907 56387907 + Missense_Mutation SNP C C A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr17:56387907C>A c.3665G>T c.(3664-3666)gGa>gTa p.G1222V ESCA 17 56388425 56388426 + Missense_Mutation DNP GG GG CC TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 g.chr17:56388425_56388426GG>CC c.3230_3231CC>GG c.(3229-3231)gCC>gGG p.A1077G ESCA 17 56389041 56389041 + Missense_Mutation SNP G G T TCGA-IG-A6QS-01A-12D-A33E-09 TCGA-IG-A6QS-10B-01D-A33H-09 g.chr17:56389041G>T c.2972C>A c.(2971-2973)cCc>cAc p.P991H ESCA 17 56393449 56393449 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr17:56393449A>C c.2033T>G c.(2032-2034)cTt>cGt p.L678R ESCA 17 56397906 56397906 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 g.chr17:56397906C>T c.1459G>A c.(1459-1461)Gtg>Atg p.V487M ESCA 17 56400114 56400114 + Silent SNP C C T TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 g.chr17:56400114C>T c.1218G>A c.(1216-1218)ctG>ctA p.L406L ESCA 17 56405068 56405068 + Missense_Mutation SNP C C T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr17:56405068C>T c.214G>A c.(214-216)Gtg>Atg p.V72M GBM 17 56382781 56382781 + Silent SNP C C A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 g.chr17:56382781C>A c.5400G>T c.(5398-5400)gtG>gtT p.V1800V GBM 17 56389930 56389930 + Missense_Mutation SNP C C G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 g.chr17:56389930C>G c.2252G>C c.(2251-2253)gGc>gCc p.G751A GBMLGG 17 56382460 56382460 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56382460G>T c.5506C>A c.(5506-5508)Ctg>Atg p.L1836M GBMLGG 17 56382781 56382781 + Silent SNP C C A TCGA-02-0033-01A-01D-1490-08 TCGA-02-0033-10A-01D-1490-08 g.chr17:56382781C>A c.5400G>T c.(5398-5400)gtG>gtT p.V1800V GBMLGG 17 56388978 56388978 + Missense_Mutation SNP T T C TCGA-P5-A5EX-01A-12D-A289-08 TCGA-P5-A5EX-10A-01D-A289-08 g.chr17:56388978T>C c.3035A>G c.(3034-3036)aAc>aGc p.N1012S GBMLGG 17 56389930 56389930 + Missense_Mutation SNP C C G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 g.chr17:56389930C>G c.2252G>C c.(2251-2253)gGc>gCc p.G751A GBMLGG 17 56393488 56393488 + Missense_Mutation SNP T T C TCGA-DB-A4XE-01A-11D-A27K-08 TCGA-DB-A4XE-10A-01D-A27N-08 g.chr17:56393488T>C c.1994A>G c.(1993-1995)aAc>aGc p.N665S GBMLGG 17 56395645 56395645 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56395645G>T c.1868C>A c.(1867-1869)cCt>cAt p.P623H GBMLGG 17 56395723 56395723 + Missense_Mutation SNP G G A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 g.chr17:56395723G>A c.1790C>T c.(1789-1791)aCa>aTa p.T597I GBMLGG 17 56400738 56400738 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56400738G>A c.1025C>T c.(1024-1026)tCg>tTg p.S342L GBMLGG 17 56402928 56402928 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr17:56402928C>T c.717G>A c.(715-717)agG>agA p.R239R HNSC 17 56382487 56382487 + Missense_Mutation SNP C C T TCGA-CN-6013-01A-11D-1683-08 TCGA-CN-6013-10A-01D-1683-08 g.chr17:56382487C>T c.5479G>A c.(5479-5481)Gag>Aag p.E1827K HNSC 17 56382996 56382996 + Nonsense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:56382996T>A c.5266A>T c.(5266-5268)Aag>Tag p.K1756* HNSC 17 56385249 56385249 + Silent SNP G G C TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 g.chr17:56385249G>C c.4785C>G c.(4783-4785)ccC>ccG p.P1595P HNSC 17 56386506 56386506 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr17:56386506C>T c.4127G>A c.(4126-4128)aGa>aAa p.R1376K HNSC 17 56386506 56386506 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:56386506C>T c.4127G>A c.(4126-4128)aGa>aAa p.R1376K HNSC 17 56387406 56387406 + Silent SNP C C T TCGA-BA-A6DF-01A-11D-A30E-08 TCGA-BA-A6DF-10A-01D-A30H-08 g.chr17:56387406C>T c.3813G>A c.(3811-3813)gaG>gaA p.E1271E HNSC 17 56388367 56388367 + Missense_Mutation SNP C C G TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 g.chr17:56388367C>G c.3289G>C c.(3289-3291)Gag>Cag p.E1097Q HNSC 17 56388466 56388466 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr17:56388466C>T c.3190G>A c.(3190-3192)Ggg>Agg p.G1064R HNSC 17 56389304 56389304 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:56389304C>T c.2878G>A c.(2878-2880)Gag>Aag p.E960K HNSC 17 56397485 56397485 + Silent SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 g.chr17:56397485G>T c.1479C>A c.(1477-1479)acC>acA p.T493T HNSC 17 56399671 56399671 + Missense_Mutation SNP G G T TCGA-CN-A641-01A-11D-A30E-08 TCGA-CN-A641-10A-01D-A30H-08 g.chr17:56399671G>T c.1420C>A c.(1420-1422)Cag>Aag p.Q474K HNSC 17 56403660 56403660 + Silent SNP C C T TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr17:56403660C>T c.564G>A c.(562-564)ctG>ctA p.L188L KIPAN 17 56386306 56386306 + Missense_Mutation SNP G G T TCGA-BQ-7045-01A-31D-1961-08 TCGA-BQ-7045-11A-01D-1961-08 g.chr17:56386306G>T c.4327C>A c.(4327-4329)Ctg>Atg p.L1443M KIPAN 17 56386671 56386672 + Frame_Shift_Ins INS - - G TCGA-B0-4847-01A-01D-1361-10 TCGA-B0-4847-11A-01D-1361-10 g.chr17:56386671_56386672insG c.3961_3962insC c.(3961-3963)ctcfs p.L1321fs KIPAN 17 56388049 56388049 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:56388049C>A c.3523G>T c.(3523-3525)Ggt>Tgt p.G1175C KIPAN 17 56395795 56395796 + Missense_Mutation DNP CC CC TT TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr17:56395795_56395796CC>TT c.1717_1718GG>AA c.(1717-1719)GGc>AAc p.G573N KIPAN 17 56405116 56405116 + Missense_Mutation SNP T T C TCGA-UZ-A9PU-01A-11D-A42J-10 TCGA-UZ-A9PU-10A-01D-A42M-10 g.chr17:56405116T>C c.166A>G c.(166-168)Agg>Ggg p.R56G KIRC 17 56386671 56386672 + Frame_Shift_Ins INS - - G TCGA-B0-4847-01A-01D-1361-10 TCGA-B0-4847-11A-01D-1361-10 g.chr17:56386671_56386672insG c.3961_3962insC c.(3961-3963)ctcfs p.L1321fs KIRC 17 56388049 56388049 + Missense_Mutation SNP C C A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:56388049C>A c.3523G>T c.(3523-3525)Ggt>Tgt p.G1175C KIRC 17 56395795 56395796 + Missense_Mutation DNP CC CC TT TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr17:56395795_56395796CC>TT c.1717_1718GG>AA c.(1717-1719)GGc>AAc p.G573N KIRP 17 56386306 56386306 + Missense_Mutation SNP G G T TCGA-BQ-7045-01A-31D-1961-08 TCGA-BQ-7045-11A-01D-1961-08 g.chr17:56386306G>T c.4327C>A c.(4327-4329)Ctg>Atg p.L1443M KIRP 17 56405116 56405116 + Missense_Mutation SNP T T C TCGA-UZ-A9PU-01A-11D-A42J-10 TCGA-UZ-A9PU-10A-01D-A42M-10 g.chr17:56405116T>C c.166A>G c.(166-168)Agg>Ggg p.R56G LGG 17 56382460 56382460 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56382460G>T c.5506C>A c.(5506-5508)Ctg>Atg p.L1836M LGG 17 56388978 56388978 + Missense_Mutation SNP T T C TCGA-P5-A5EX-01A-12D-A289-08 TCGA-P5-A5EX-10A-01D-A289-08 g.chr17:56388978T>C c.3035A>G c.(3034-3036)aAc>aGc p.N1012S LGG 17 56393488 56393488 + Missense_Mutation SNP T T C TCGA-DB-A4XE-01A-11D-A27K-08 TCGA-DB-A4XE-10A-01D-A27N-08 g.chr17:56393488T>C c.1994A>G c.(1993-1995)aAc>aGc p.N665S LGG 17 56395645 56395645 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56395645G>T c.1868C>A c.(1867-1869)cCt>cAt p.P623H LGG 17 56395723 56395723 + Missense_Mutation SNP G G A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 g.chr17:56395723G>A c.1790C>T c.(1789-1791)aCa>aTa p.T597I LGG 17 56400738 56400738 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56400738G>A c.1025C>T c.(1024-1026)tCg>tTg p.S342L LGG 17 56402928 56402928 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr17:56402928C>T c.717G>A c.(715-717)agG>agA p.R239R LIHC 17 56382773 56382773 + Missense_Mutation SNP C C A TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr17:56382773C>A c.5408G>T c.(5407-5409)gGc>gTc p.G1803V LIHC 17 56383220 56383220 + Nonsense_Mutation SNP G G T TCGA-DD-AAD8-01A-11D-A40R-10 TCGA-DD-AAD8-10A-01D-A40U-10 g.chr17:56383220G>T c.5231C>A c.(5230-5232)tCg>tAg p.S1744* LIHC 17 56384317 56384317 + Missense_Mutation SNP T T C TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr17:56384317T>C c.4996A>G c.(4996-4998)Aag>Gag p.K1666E LIHC 17 56385233 56385233 + Nonsense_Mutation SNP G G A TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr17:56385233G>A c.4801C>T c.(4801-4803)Cga>Tga p.R1601* LIHC 17 56389687 56389687 + Missense_Mutation SNP C C T TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr17:56389687C>T c.2495G>A c.(2494-2496)cGa>cAa p.R832Q LIHC 17 56393388 56393388 + Frame_Shift_Del DEL A A - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr17:56393388delA c.2094delT c.(2092-2094)tttfs p.F698fs LIHC 17 56393388 56393388 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr17:56393388delA c.2094delT c.(2092-2094)tttfs p.F698fs LUAD 17 56384267 56384267 + Silent SNP G G A TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr17:56384267G>A c.5046C>T c.(5044-5046)taC>taT p.Y1682Y LUAD 17 56385038 56385038 + Silent SNP C C A TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr17:56385038C>A c.4917G>T c.(4915-4917)gtG>gtT p.V1639V LUAD 17 56385040 56385040 + Missense_Mutation SNP C C A TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr17:56385040C>A c.4915G>T c.(4915-4917)Gtg>Ttg p.V1639L LUAD 17 56385939 56385939 + Missense_Mutation SNP C C A TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr17:56385939C>A c.4694G>T c.(4693-4695)cGc>cTc p.R1565L LUAD 17 56385969 56385969 + Missense_Mutation SNP C C A TCGA-NJ-A55A-01A-11D-A25L-08 TCGA-NJ-A55A-10A-01D-A25L-08 g.chr17:56385969C>A c.4664G>T c.(4663-4665)tGg>tTg p.W1555L LUAD 17 56386005 56386005 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr17:56386005T>C c.4628A>G c.(4627-4629)aAt>aGt p.N1543S LUAD 17 56386194 56386194 + Missense_Mutation SNP C C A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr17:56386194C>A c.4439G>T c.(4438-4440)cGg>cTg p.R1480L LUAD 17 56386312 56386312 + Nonsense_Mutation SNP C C A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr17:56386312C>A c.4321G>T c.(4321-4323)Gga>Tga p.G1441* LUAD 17 56386537 56386537 + Missense_Mutation SNP C C A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr17:56386537C>A c.4096G>T c.(4096-4098)Ggg>Tgg p.G1366W LUAD 17 56386583 56386583 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr17:56386583T>A c.4050A>T c.(4048-4050)gcA>gcT p.A1350A LUAD 17 56386669 56386669 + Nonsense_Mutation SNP G G A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr17:56386669G>A c.3964C>T c.(3964-3966)Cag>Tag p.Q1322* LUAD 17 56386681 56386681 + Nonsense_Mutation SNP C C A TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chr17:56386681C>A c.3952G>T c.(3952-3954)Gag>Tag p.E1318* LUAD 17 56387346 56387346 + Silent SNP G G A TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr17:56387346G>A c.3873C>T c.(3871-3873)atC>atT p.I1291I LUAD 17 56387495 56387495 + Missense_Mutation SNP C C A TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr17:56387495C>A c.3724G>T c.(3724-3726)Gtt>Ttt p.V1242F LUAD 17 56387878 56387878 + Missense_Mutation SNP C C T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr17:56387878C>T c.3694G>A c.(3694-3696)Gct>Act p.A1232T LUAD 17 56387946 56387946 + Missense_Mutation SNP C C G TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 g.chr17:56387946C>G c.3626G>C c.(3625-3627)cGg>cCg p.R1209P LUAD 17 56388558 56388558 + Missense_Mutation SNP G G A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr17:56388558G>A c.3098C>T c.(3097-3099)tCa>tTa p.S1033L LUAD 17 56389368 56389368 + Silent SNP G G A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 g.chr17:56389368G>A c.2814C>T c.(2812-2814)ggC>ggT p.G938G LUAD 17 56389623 56389623 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr17:56389623C>T c.2559G>A c.(2557-2559)ggG>ggA p.G853G LUAD 17 56389736 56389736 + Nonsense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr17:56389736C>A c.2446G>T c.(2446-2448)Gag>Tag p.E816* LUAD 17 56389902 56389902 + Silent SNP C C A TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 g.chr17:56389902C>A c.2280G>T c.(2278-2280)gtG>gtT p.V760V LUAD 17 56389964 56389964 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 g.chr17:56389964G>A c.2218C>T c.(2218-2220)Cct>Tct p.P740S LUAD 17 56393883 56393883 + Missense_Mutation SNP C C A TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr17:56393883C>A c.1891G>T c.(1891-1893)Gta>Tta p.V631L LUAD 17 56395678 56395678 + Missense_Mutation SNP G G A TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr17:56395678G>A c.1835C>T c.(1834-1836)tCc>tTc p.S612F LUAD 17 56399715 56399715 + Missense_Mutation SNP C C A TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chr17:56399715C>A c.1376G>T c.(1375-1377)cGg>cTg p.R459L LUAD 17 56400038 56400038 + Nonsense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr17:56400038C>A c.1294G>T c.(1294-1296)Gag>Tag p.E432* LUAD 17 56400700 56400700 + Nonsense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr17:56400700C>A c.1063G>T c.(1063-1065)Gag>Tag p.E355* LUAD 17 56400737 56400737 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 g.chr17:56400737C>A c.1026G>T c.(1024-1026)tcG>tcT p.S342S LUAD 17 56404127 56404127 + Missense_Mutation SNP C C T TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr17:56404127C>T c.358G>A c.(358-360)Gac>Aac p.D120N LUSC 17 56386399 56386399 + Missense_Mutation SNP G G C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 g.chr17:56386399G>C c.4234C>G c.(4234-4236)Cct>Gct p.P1412A LUSC 17 56387418 56387418 + Silent SNP C C T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr17:56387418C>T c.3801G>A c.(3799-3801)gaG>gaA p.E1267E LUSC 17 56389036 56389036 + Missense_Mutation SNP G G A TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 g.chr17:56389036G>A c.2977C>T c.(2977-2979)Cct>Tct p.P993S LUSC 17 56389406 56389406 + Missense_Mutation SNP T T C TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr17:56389406T>C c.2776A>G c.(2776-2778)Agt>Ggt p.S926G LUSC 17 56393786 56393786 + Splice_Site SNP C C T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chr17:56393786C>T c.1988G>A c.(1987-1989)aGc>aAc p.S663N PAAD 17 56387922 56387922 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:56387922T>C c.3650A>G c.(3649-3651)gAg>gGg p.E1217G PAAD 17 56389337 56389337 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:56389337G>T c.2845C>A c.(2845-2847)Ctc>Atc p.L949I PAAD 17 56389920 56389920 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:56389920G>A c.2262C>T c.(2260-2262)agC>agT p.S754S PCPG 17 56386005 56386005 + Missense_Mutation SNP T T C TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 g.chr17:56386005T>C c.4628A>G c.(4627-4629)aAt>aGt p.N1543S PRAD 17 56381740 56381740 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:56381740G>A c.5565C>T c.(5563-5565)gtC>gtT p.V1855V PRAD 17 56385061 56385061 + Missense_Mutation SNP C C A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 g.chr17:56385061C>A c.4894G>T c.(4894-4896)Gct>Tct p.A1632S PRAD 17 56385933 56385933 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr17:56385933G>A c.4700C>T c.(4699-4701)gCg>gTg p.A1567V PRAD 17 56386548 56386548 + Frame_Shift_Del DEL G G - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr17:56386548delG c.4085delC c.(4084-4086)cctfs p.P1362fs PRAD 17 56387880 56387880 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:56387880C>A c.3692G>T c.(3691-3693)aGg>aTg p.R1231M PRAD 17 56393793 56393793 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:56393793G>A c.1981C>T c.(1981-1983)Cgt>Tgt p.R661C PRAD 17 56400901 56400901 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:56400901C>T c.948G>A c.(946-948)acG>acA p.T316T READ 17 56385076 56385076 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:56385076C>T c.4879G>A c.(4879-4881)Gtc>Atc p.V1627I READ 17 56386595 56386595 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:56386595C>A c.4038G>T c.(4036-4038)gaG>gaT p.E1346D READ 17 56386607 56386607 + Missense_Mutation SNP G G T TCGA-DC-6157-01A-11D-1657-10 TCGA-DC-6157-10A-01D-1657-10 g.chr17:56386607G>T c.4026C>A c.(4024-4026)gaC>gaA p.D1342E SARC 17 56382430 56382430 + Nonsense_Mutation SNP C C A TCGA-DX-A8BR-01A-11D-A417-09 TCGA-DX-A8BR-10B-01D-A41A-09 g.chr17:56382430C>A c.5536G>T c.(5536-5538)Gag>Tag p.E1846* SARC 17 56386603 56386603 + Nonsense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr17:56386603C>A c.4030G>T c.(4030-4032)Gag>Tag p.E1344* SKCM 17 56382452 56382452 + Silent SNP C C T TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr17:56382452C>T c.5514G>A c.(5512-5514)agG>agA p.R1838R SKCM 17 56382491 56382491 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:56382491G>A c.5475C>T c.(5473-5475)ttC>ttT p.F1825F SKCM 17 56382511 56382511 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:56382511C>T c.5455G>A c.(5455-5457)Ggc>Agc p.G1819S SKCM 17 56382511 56382511 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:56382511C>T c.5455G>A c.(5455-5457)Ggc>Agc p.G1819S SKCM 17 56382513 56382513 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:56382513C>T c.5453G>A c.(5452-5454)aGg>aAg p.R1818K SKCM 17 56382809 56382809 + Missense_Mutation SNP G G A TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr17:56382809G>A c.5372C>T c.(5371-5373)cCc>cTc p.P1791L SKCM 17 56382810 56382810 + Missense_Mutation SNP G G A TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr17:56382810G>A c.5371C>T c.(5371-5373)Ccc>Tcc p.P1791S SKCM 17 56382928 56382928 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr17:56382928C>T c.5334G>A c.(5332-5334)caG>caA p.Q1778Q SKCM 17 56384174 56384174 + Silent SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr17:56384174G>A c.5139C>T c.(5137-5139)ctC>ctT p.L1713L SKCM 17 56384997 56384997 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr17:56384997G>A c.4958C>T c.(4957-4959)cCc>cTc p.P1653L SKCM 17 56385021 56385021 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr17:56385021G>A c.4934C>T c.(4933-4935)cCt>cTt p.P1645L SKCM 17 56385022 56385022 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr17:56385022G>A c.4933C>T c.(4933-4935)Cct>Tct p.P1645S SKCM 17 56386068 56386068 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr17:56386068G>A c.4565C>T c.(4564-4566)cCt>cTt p.P1522L SKCM 17 56386213 56386213 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56386213G>A c.4420C>T c.(4420-4422)Cgg>Tgg p.R1474W SKCM 17 56386214 56386214 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr17:56386214G>A c.4419C>T c.(4417-4419)tcC>tcT p.S1473S SKCM 17 56386285 56386285 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56386285C>T c.4348G>A c.(4348-4350)Ggt>Agt p.G1450S SKCM 17 56386309 56386309 + Nonsense_Mutation SNP G G A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr17:56386309G>A c.4324C>T c.(4324-4326)Cga>Tga p.R1442* SKCM 17 56386323 56386323 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr17:56386323G>A c.4310C>T c.(4309-4311)cCc>cTc p.P1437L SKCM 17 56386398 56386398 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:56386398G>A c.4235C>T c.(4234-4236)cCt>cTt p.P1412L SKCM 17 56386440 56386440 + Missense_Mutation SNP C C T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr17:56386440C>T c.4193G>A c.(4192-4194)gGa>gAa p.G1398E SKCM 17 56386569 56386569 + Missense_Mutation SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr17:56386569C>T c.4064G>A c.(4063-4065)cGa>cAa p.R1355Q SKCM 17 56386570 56386570 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr17:56386570G>A c.4063C>T c.(4063-4065)Cga>Tga p.R1355* SKCM 17 56386606 56386606 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56386606C>T c.4027G>A c.(4027-4029)Gag>Aag p.E1343K SKCM 17 56386636 56386636 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56386636G>A c.3997C>T c.(3997-3999)Ccg>Tcg p.P1333S SKCM 17 56386727 56386727 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56386727G>A c.3906C>T c.(3904-3906)ccC>ccT p.P1302P SKCM 17 56386733 56386733 + Silent SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:56386733G>A c.3900C>T c.(3898-3900)ccC>ccT p.P1300P SKCM 17 56387343 56387343 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr17:56387343C>T c.3876G>A c.(3874-3876)agG>agA p.R1292R SKCM 17 56387372 56387372 + Nonsense_Mutation SNP G G A TCGA-ER-A2NC-06A-11D-A197-08 TCGA-ER-A2NC-10A-01D-A199-08 g.chr17:56387372G>A c.3847C>T c.(3847-3849)Cag>Tag p.Q1283* SKCM 17 56387432 56387432 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56387432C>T c.3787G>A c.(3787-3789)Gaa>Aaa p.E1263K SKCM 17 56387438 56387438 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56387438G>A c.3781C>T c.(3781-3783)Cag>Tag p.Q1261* SKCM 17 56387942 56387942 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56387942G>A c.3630C>T c.(3628-3630)gcC>gcT p.A1210A SKCM 17 56388020 56388020 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56388020G>A c.3552C>T c.(3550-3552)ccC>ccT p.P1184P SKCM 17 56388294 56388294 + Missense_Mutation SNP G G A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr17:56388294G>A c.3362C>T c.(3361-3363)cCc>cTc p.P1121L SKCM 17 56388315 56388315 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr17:56388315G>A c.3341C>T c.(3340-3342)tCt>tTt p.S1114F SKCM 17 56388345 56388345 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:56388345G>A c.3311C>T c.(3310-3312)tCa>tTa p.S1104L SKCM 17 56388554 56388554 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr17:56388554G>A c.3102C>T c.(3100-3102)ccC>ccT p.P1034P SKCM 17 56388969 56388969 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr17:56388969C>G c.3044G>C c.(3043-3045)cGg>cCg p.R1015P SKCM 17 56389042 56389042 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr17:56389042G>A c.2971C>T c.(2971-2973)Ccc>Tcc p.P991S SKCM 17 56389063 56389063 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr17:56389063C>T c.2950G>A c.(2950-2952)Gat>Aat p.D984N SKCM 17 56389437 56389437 + Silent SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr17:56389437G>A c.2745C>T c.(2743-2745)ctC>ctT p.L915L SKCM 17 56393405 56393405 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr17:56393405C>T c.2077G>A c.(2077-2079)Gat>Aat p.D693N SKCM 17 56393446 56393446 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr17:56393446G>A c.2036C>T c.(2035-2037)cCg>cTg p.P679L SKCM 17 56393447 56393447 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr17:56393447G>A c.2035C>T c.(2035-2037)Ccg>Tcg p.P679S SKCM 17 56399757 56399757 + Missense_Mutation SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr17:56399757G>A c.1334C>T c.(1333-1335)gCc>gTc p.A445V SKCM 17 56400068 56400068 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56400068G>A c.1264C>T c.(1264-1266)Cgc>Tgc p.R422C SKCM 17 56403074 56403074 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr17:56403074C>T c.571G>A c.(571-573)Gtg>Atg p.V191M SKCM 17 56403075 56403075 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr17:56403075C>T c.e4-1 SKCM 17 56403666 56403666 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56403666C>T c.558G>A c.(556-558)acG>acA p.T186T SKCM 17 56403732 56403732 + Silent SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr17:56403732C>T c.492G>A c.(490-492)agG>agA p.R164R SKCM 17 56404061 56404061 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr17:56404061C>T c.424G>A c.(424-426)Gag>Aag p.E142K SKCM 17 56404969 56404969 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:56404969C>T c.313G>A c.(313-315)Gaa>Aaa p.E105K SKCM 17 56405038 56405038 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr17:56405038C>T c.244G>A c.(244-246)Gct>Act p.A82T ACC 3 139258411 139258411 + Silent SNP G G A TCGA-OR-A5JY-01A-31D-A29I-10 TCGA-OR-A5JY-10A-01D-A29L-10 g.chr3:139258411G>A c.150C>T c.(148-150)cgC>cgT p.R50R BLCA 3 139236517 139236517 + Missense_Mutation SNP C C T TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 g.chr3:139236517C>T c.546G>A c.(544-546)atG>atA p.M182I BLCA 3 139257789 139257789 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr3:139257789G>A c.272C>T c.(271-273)gCc>gTc p.A91V BLCA 3 139258320 139258320 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr3:139258320C>T c.241G>A c.(241-243)Gag>Aag p.E81K BLCA 3 139258348 139258348 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr3:139258348C>T c.213G>A c.(211-213)tgG>tgA p.W71* BRCA 3 139244741 139244741 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr3:139244741C>T c.442G>A c.(442-444)Gaa>Aaa p.E148K BRCA 3 139257746 139257746 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:139257746G>A c.315C>T c.(313-315)atC>atT p.I105I BRCA 3 139258365 139258365 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 g.chr3:139258365C>T c.196G>A c.(196-198)Gac>Aac p.D66N BRCA 3 139258551 139258551 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr3:139258551G>A c.10C>T c.(10-12)Ccc>Tcc p.P4S COAD 3 139236506 139236506 + Missense_Mutation SNP C C T TCGA-AA-3527-01A-01W-0831-10 TCGA-AA-3527-10A-01W-0831-10 g.chr3:139236506C>T c.557G>A c.(556-558)gGt>gAt p.G186D COAD 3 139257751 139257751 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr3:139257751C>T c.310G>A c.(310-312)Gag>Aag p.E104K COADREAD 3 139236506 139236506 + Missense_Mutation SNP C C T TCGA-AA-3527-01A-01W-0831-10 TCGA-AA-3527-10A-01W-0831-10 g.chr3:139236506C>T c.557G>A c.(556-558)gGt>gAt p.G186D COADREAD 3 139257751 139257751 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr3:139257751C>T c.310G>A c.(310-312)Gag>Aag p.E104K DLBC 3 139257727 139257727 + Missense_Mutation SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr3:139257727T>C c.334A>G c.(334-336)Atg>Gtg p.M112V GBMLGG 3 139237308 139237308 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr3:139237308C>T c.495G>A c.(493-495)gaG>gaA p.E165E GBMLGG 3 139257633 139257633 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:139257633C>T c.428G>A c.(427-429)cGc>cAc p.R143H KIPAN 3 139236515 139236515 + Missense_Mutation SNP C C G TCGA-Y8-A8S0-01A-11D-A36X-10 TCGA-Y8-A8S0-10A-01D-A370-10 g.chr3:139236515C>G c.548G>C c.(547-549)aGa>aCa p.R183T KIPAN 3 139237296 139237296 + Missense_Mutation SNP C C A TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr3:139237296C>A c.507G>T c.(505-507)tgG>tgT p.W169C KIRP 3 139236515 139236515 + Missense_Mutation SNP C C G TCGA-Y8-A8S0-01A-11D-A36X-10 TCGA-Y8-A8S0-10A-01D-A370-10 g.chr3:139236515C>G c.548G>C c.(547-549)aGa>aCa p.R183T KIRP 3 139237296 139237296 + Missense_Mutation SNP C C A TCGA-P4-A5E7-01A-31D-A28G-10 TCGA-P4-A5E7-11A-11D-A28G-10 g.chr3:139237296C>A c.507G>T c.(505-507)tgG>tgT p.W169C LGG 3 139237308 139237308 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr3:139237308C>T c.495G>A c.(493-495)gaG>gaA p.E165E LGG 3 139257633 139257633 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:139257633C>T c.428G>A c.(427-429)cGc>cAc p.R143H LUAD 3 139237323 139237323 + Silent SNP C C T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr3:139237323C>T c.480G>A c.(478-480)caG>caA p.Q160Q LUAD 3 139257718 139257718 + Missense_Mutation SNP G G A TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr3:139257718G>A c.343C>T c.(343-345)Cgc>Tgc p.R115C LUAD 3 139257785 139257785 + Missense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr3:139257785C>A c.276G>T c.(274-276)ttG>ttT p.L92F LUSC 3 139258355 139258355 + Missense_Mutation SNP C C A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr3:139258355C>A c.206G>T c.(205-207)gGg>gTg p.G69V PAAD 3 139257784 139257784 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 g.chr3:139257784G>A c.277C>T c.(277-279)Cgc>Tgc p.R93C PRAD 3 139258317 139258318 + Frame_Shift_Del DEL AC AC - TCGA-YL-A8S9-01A-11D-A377-08 TCGA-YL-A8S9-10A-01D-A37A-08 g.chr3:139258317_139258318delAC c.243_244delGT c.(241-246)gagtacfs p.Y82fs SKCM 3 139236477 139236477 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:139236477C>T c.586G>A c.(586-588)Gtg>Atg p.V196M SKCM 3 139237318 139237318 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:139237318C>T c.485G>A c.(484-486)gGt>gAt p.G162D SKCM 3 139237345 139237345 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr3:139237345C>T c.458G>A c.(457-459)gGa>gAa p.G153E SKCM 3 139257667 139257667 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:139257667C>T c.394G>A c.(394-396)Gag>Aag p.E132K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 56389732 56389732 single base substitution T C missense_variant Q757R 2270A>G BLCA-CN 17 56389732 56389732 single base substitution T C missense_variant Q817R 2450A>G BLCA-CN 17 56389732 56389732 single base substitution T C upstream_gene_variant BLCA-US 17 56386419 56386419 single base substitution C T downstream_gene_variant BLCA-US 17 56386419 56386419 single base substitution C T intron_variant BLCA-US 17 56386419 56386419 single base substitution C T missense_variant R1345Q 4034G>A BLCA-US 17 56386419 56386419 single base substitution C T missense_variant R1405Q 4214G>A BLCA-US 17 56386419 56386419 single base substitution C T upstream_gene_variant BLCA-US 17 56388949 56388949 single base substitution A C exon_variant BLCA-US 17 56388949 56388949 single base substitution A C missense_variant Y1022D 3064T>G BLCA-US 17 56388949 56388949 single base substitution A C missense_variant Y962D 2884T>G BLCA-US 17 56388949 56388949 single base substitution A C upstream_gene_variant BLCA-US 17 56405156 56405156 single base substitution G A synonymous_variant I42I 126C>T BOCA-FR 17 56394876 56394876 single base substitution G T downstream_gene_variant BOCA-FR 17 56394876 56394876 single base substitution G T intron_variant BRCA-EU 17 56375293 56375293 single base substitution G A downstream_gene_variant BRCA-EU 17 56375777 56375777 single base substitution C G downstream_gene_variant BRCA-EU 17 56377356 56377356 single base substitution C G downstream_gene_variant BRCA-EU 17 56377773 56377773 single base substitution G A downstream_gene_variant BRCA-EU 17 56377841 56377841 single base substitution C T downstream_gene_variant BRCA-EU 17 56378190 56378190 single base substitution G T downstream_gene_variant BRCA-EU 17 56380702 56380702 single base substitution C T downstream_gene_variant BRCA-EU 17 56380702 56380702 single base substitution C T exon_variant BRCA-EU 17 56380702 56380702 single base substitution C T intron_variant BRCA-EU 17 56380811 56380811 single base substitution G A downstream_gene_variant BRCA-EU 17 56380811 56380811 single base substitution G A exon_variant BRCA-EU 17 56380811 56380811 single base substitution G A intron_variant BRCA-EU 17 56380931 56380931 single base substitution A T downstream_gene_variant BRCA-EU 17 56380931 56380931 single base substitution A T exon_variant BRCA-EU 17 56380931 56380931 single base substitution A T intron_variant BRCA-EU 17 56381318 56381318 single base substitution T G downstream_gene_variant BRCA-EU 17 56381318 56381318 single base substitution T G exon_variant BRCA-EU 17 56381318 56381318 single base substitution T G intron_variant BRCA-EU 17 56381715 56381715 single base substitution A C 3_prime_UTR_variant BRCA-EU 17 56381715 56381715 single base substitution A C downstream_gene_variant BRCA-EU 17 56381715 56381715 single base substitution A C exon_variant BRCA-EU 17 56381715 56381715 single base substitution A C intron_variant BRCA-EU 17 56382110 56382110 single base substitution C T downstream_gene_variant BRCA-EU 17 56382110 56382110 single base substitution C T exon_variant BRCA-EU 17 56382110 56382110 single base substitution C T intron_variant BRCA-EU 17 56382263 56382263 single base substitution G T downstream_gene_variant BRCA-EU 17 56382263 56382263 single base substitution G T exon_variant BRCA-EU 17 56382263 56382263 single base substitution G T intron_variant BRCA-EU 17 56382698 56382698 single base substitution G A downstream_gene_variant BRCA-EU 17 56382698 56382698 single base substitution G A exon_variant BRCA-EU 17 56382698 56382698 single base substitution G A intron_variant BRCA-EU 17 56382745 56382745 single base substitution C T downstream_gene_variant BRCA-EU 17 56382745 56382745 single base substitution C T exon_variant BRCA-EU 17 56382745 56382745 single base substitution C T splice_region_variant BRCA-EU 17 56383538 56383538 single base substitution T A downstream_gene_variant BRCA-EU 17 56383538 56383538 single base substitution T A intron_variant BRCA-EU 17 56383538 56383538 single base substitution T A upstream_gene_variant BRCA-EU 17 56383850 56383850 single base substitution C T downstream_gene_variant BRCA-EU 17 56383850 56383850 single base substitution C T exon_variant BRCA-EU 17 56383850 56383850 single base substitution C T intron_variant BRCA-EU 17 56383850 56383850 single base substitution C T upstream_gene_variant BRCA-EU 17 56383992 56383992 single base substitution G A downstream_gene_variant BRCA-EU 17 56383992 56383992 single base substitution G A exon_variant BRCA-EU 17 56383992 56383992 single base substitution G A intron_variant BRCA-EU 17 56383992 56383992 single base substitution G A upstream_gene_variant BRCA-EU 17 56386413 56386413 single base substitution C A downstream_gene_variant BRCA-EU 17 56386413 56386413 single base substitution C A intron_variant BRCA-EU 17 56386413 56386413 single base substitution C A missense_variant R1347I 4040G>T BRCA-EU 17 56386413 56386413 single base substitution C A missense_variant R1407I 4220G>T BRCA-EU 17 56386413 56386413 single base substitution C A upstream_gene_variant BRCA-EU 17 56386828 56386828 single base substitution C T downstream_gene_variant BRCA-EU 17 56386828 56386828 single base substitution C T intron_variant BRCA-EU 17 56386828 56386828 single base substitution C T upstream_gene_variant BRCA-EU 17 56387668 56387668 single base substitution C A downstream_gene_variant BRCA-EU 17 56387668 56387668 single base substitution C A intron_variant BRCA-EU 17 56387668 56387668 single base substitution C A upstream_gene_variant BRCA-EU 17 56389665 56389665 single base substitution C T synonymous_variant A779A 2337G>A BRCA-EU 17 56389665 56389665 single base substitution C T synonymous_variant A839A 2517G>A BRCA-EU 17 56389665 56389665 single base substitution C T upstream_gene_variant BRCA-EU 17 56390140 56390140 insertion of <=200bp - A intron_variant BRCA-EU 17 56390140 56390140 insertion of <=200bp - A upstream_gene_variant BRCA-EU 17 56391986 56391986 single base substitution G C intron_variant BRCA-EU 17 56391986 56391986 single base substitution G C upstream_gene_variant BRCA-EU 17 56392083 56392083 single base substitution C G intron_variant BRCA-EU 17 56392083 56392083 single base substitution C G upstream_gene_variant BRCA-EU 17 56395347 56395370 deletion of <=200bp TCCTGGTGCCCAAGTGTCTCCTCC - downstream_gene_variant BRCA-EU 17 56395347 56395370 deletion of <=200bp TCCTGGTGCCCAAGTGTCTCCTCC - intron_variant BRCA-EU 17 56395420 56395420 single base substitution G C downstream_gene_variant BRCA-EU 17 56395420 56395420 single base substitution G C intron_variant BRCA-EU 17 56395989 56395989 single base substitution T A downstream_gene_variant BRCA-EU 17 56395989 56395989 single base substitution T A intron_variant BRCA-EU 17 56396415 56396415 single base substitution G A downstream_gene_variant BRCA-EU 17 56396415 56396415 single base substitution G A intron_variant BRCA-EU 17 56396453 56396453 single base substitution T C downstream_gene_variant BRCA-EU 17 56396453 56396453 single base substitution T C missense_variant K506R 1517A>G BRCA-EU 17 56396453 56396453 single base substitution T C missense_variant K566R 1697A>G BRCA-EU 17 56399711 56399711 single base substitution G A exon_variant BRCA-EU 17 56399711 56399711 single base substitution G A synonymous_variant L400L 1200C>T BRCA-EU 17 56399711 56399711 single base substitution G A synonymous_variant L460L 1380C>T BRCA-EU 17 56400453 56400453 single base substitution C G intron_variant BRCA-EU 17 56400453 56400453 single base substitution C G upstream_gene_variant BRCA-EU 17 56400940 56400940 single base substitution G C intron_variant BRCA-EU 17 56400940 56400940 single base substitution G C upstream_gene_variant BRCA-EU 17 56401675 56401675 single base substitution G A intron_variant BRCA-EU 17 56401675 56401675 single base substitution G A upstream_gene_variant BRCA-EU 17 56404710 56404710 single base substitution G A intron_variant BRCA-EU 17 56404710 56404710 single base substitution G A upstream_gene_variant BRCA-EU 17 56405056 56405056 single base substitution C T missense_variant D76N 226G>A BRCA-EU 17 56405056 56405056 single base substitution C T upstream_gene_variant BRCA-EU 17 56405245 56405245 single base substitution G A missense_variant P13S 37C>T BRCA-EU 17 56405426 56405426 single base substitution C T 5_prime_UTR_variant BRCA-EU 17 56406144 56406144 single base substitution G A 5_prime_UTR_variant BRCA-EU 17 56406144 56406144 single base substitution G A upstream_gene_variant BRCA-EU 17 56406154 56406154 single base substitution A G upstream_gene_variant BRCA-EU 17 56406763 56406763 single base substitution C T upstream_gene_variant BRCA-EU 17 56406969 56406969 single base substitution G C upstream_gene_variant BRCA-EU 17 56407918 56407918 single base substitution C T upstream_gene_variant BRCA-EU 17 56409760 56409760 single base substitution C T upstream_gene_variant BRCA-FR 17 56374805 56374805 single base substitution G A downstream_gene_variant BRCA-FR 17 56375149 56375149 single base substitution G A downstream_gene_variant BRCA-FR 17 56382698 56382698 single base substitution G A downstream_gene_variant BRCA-FR 17 56382698 56382698 single base substitution G A exon_variant BRCA-FR 17 56382698 56382698 single base substitution G A intron_variant BRCA-FR 17 56390260 56390260 single base substitution G C intron_variant BRCA-FR 17 56390260 56390260 single base substitution G C upstream_gene_variant BRCA-FR 17 56391986 56391986 single base substitution G C intron_variant BRCA-FR 17 56391986 56391986 single base substitution G C upstream_gene_variant BRCA-FR 17 56395314 56395314 single base substitution C T downstream_gene_variant BRCA-FR 17 56395314 56395314 single base substitution C T intron_variant BRCA-FR 17 56399711 56399711 single base substitution G A exon_variant BRCA-FR 17 56399711 56399711 single base substitution G A synonymous_variant L400L 1200C>T BRCA-FR 17 56399711 56399711 single base substitution G A synonymous_variant L460L 1380C>T BRCA-FR 17 56400453 56400453 single base substitution C G intron_variant BRCA-FR 17 56400453 56400453 single base substitution C G upstream_gene_variant BRCA-FR 17 56405426 56405426 single base substitution C T 5_prime_UTR_variant BRCA-FR 17 56406144 56406144 single base substitution G A 5_prime_UTR_variant BRCA-FR 17 56406144 56406144 single base substitution G A upstream_gene_variant BRCA-FR 17 56406969 56406969 single base substitution G C upstream_gene_variant BRCA-KR 17 56383715 56383715 single base substitution G A downstream_gene_variant BRCA-KR 17 56383715 56383715 single base substitution G A exon_variant BRCA-KR 17 56383715 56383715 single base substitution G A missense_variant R159C 475C>T BRCA-KR 17 56383715 56383715 single base substitution G A missense_variant R1678C 5032C>T BRCA-KR 17 56383715 56383715 single base substitution G A missense_variant R1738C 5212C>T BRCA-KR 17 56383715 56383715 single base substitution G A missense_variant R292C 874C>T BRCA-KR 17 56383715 56383715 single base substitution G A missense_variant R2C 4C>T BRCA-KR 17 56383715 56383715 single base substitution G A upstream_gene_variant BRCA-UK 17 56377773 56377773 single base substitution G A downstream_gene_variant BRCA-UK 17 56383992 56383992 single base substitution G A downstream_gene_variant BRCA-UK 17 56383992 56383992 single base substitution G A exon_variant BRCA-UK 17 56383992 56383992 single base substitution G A intron_variant BRCA-UK 17 56383992 56383992 single base substitution G A upstream_gene_variant BRCA-UK 17 56396394 56396394 single base substitution C G downstream_gene_variant BRCA-UK 17 56396394 56396394 single base substitution C G intron_variant BRCA-UK 17 56404494 56404494 single base substitution C T intron_variant BRCA-UK 17 56404494 56404494 single base substitution C T upstream_gene_variant BRCA-UK 17 56410954 56410954 single base substitution C G upstream_gene_variant BRCA-US 17 56384995 56384995 single base substitution A C downstream_gene_variant BRCA-US 17 56384995 56384995 single base substitution A C exon_variant BRCA-US 17 56384995 56384995 single base substitution A C missense_variant F1594V 4780T>G BRCA-US 17 56384995 56384995 single base substitution A C missense_variant F1654V 4960T>G BRCA-US 17 56384995 56384995 single base substitution A C missense_variant F217V 649T>G BRCA-US 17 56384995 56384995 single base substitution A C missense_variant F84V 250T>G BRCA-US 17 56384995 56384995 single base substitution A C upstream_gene_variant BRCA-US 17 56386383 56386383 insertion of <=200bp - T downstream_gene_variant BRCA-US 17 56386383 56386383 insertion of <=200bp - T frameshift_variant S1357R? BRCA-US 17 56386383 56386383 insertion of <=200bp - T frameshift_variant S1417R? BRCA-US 17 56386383 56386383 insertion of <=200bp - T intron_variant BRCA-US 17 56386383 56386383 insertion of <=200bp - TT downstream_gene_variant BRCA-US 17 56386383 56386383 insertion of <=200bp - TT frameshift_variant S1357R? BRCA-US 17 56386383 56386383 insertion of <=200bp - TT frameshift_variant S1417R? BRCA-US 17 56386383 56386383 insertion of <=200bp - TT intron_variant BRCA-US 17 56386383 56386383 insertion of <=200bp - TT upstream_gene_variant BRCA-US 17 56386383 56386383 insertion of <=200bp - T upstream_gene_variant BRCA-US 17 56386480 56386480 single base substitution C G downstream_gene_variant BRCA-US 17 56386480 56386480 single base substitution C G intron_variant BRCA-US 17 56386480 56386480 single base substitution C G missense_variant E1325Q 3973G>C BRCA-US 17 56386480 56386480 single base substitution C G missense_variant E1385Q 4153G>C BRCA-US 17 56386480 56386480 single base substitution C G upstream_gene_variant BRCA-US 17 56389025 56389025 single base substitution C G exon_variant BRCA-US 17 56389025 56389025 single base substitution C G missense_variant L936F 2808G>C BRCA-US 17 56389025 56389025 single base substitution C G missense_variant L996F 2988G>C BRCA-US 17 56389025 56389025 single base substitution C G upstream_gene_variant BRCA-US 17 56395674 56395674 single base substitution G A downstream_gene_variant BRCA-US 17 56395674 56395674 single base substitution G A synonymous_variant I553I 1659C>T BRCA-US 17 56395674 56395674 single base substitution G A synonymous_variant I613I 1839C>T BRCA-US 17 56400673 56400673 single base substitution G A stop_gained R304* 910C>T BRCA-US 17 56400673 56400673 single base substitution G A stop_gained R364* 1090C>T BRCA-US 17 56400673 56400673 single base substitution G A upstream_gene_variant BRCA-US 17 56403701 56403701 single base substitution G A missense_variant R175C 523C>T BRCA-US 17 56403701 56403701 single base substitution G A upstream_gene_variant BRCA-US 17 56408664 56408664 single base substitution G T upstream_gene_variant BTCA-JP 17 56382649 56382649 single base substitution G A downstream_gene_variant BTCA-JP 17 56382649 56382649 single base substitution G A exon_variant BTCA-JP 17 56382649 56382649 single base substitution G A intron_variant BTCA-JP 17 56383272 56383272 single base substitution C T downstream_gene_variant BTCA-JP 17 56383272 56383272 single base substitution C T intron_variant BTCA-JP 17 56383272 56383272 single base substitution C T upstream_gene_variant BTCA-JP 17 56389544 56389544 single base substitution G A missense_variant R820W 2458C>T BTCA-JP 17 56389544 56389544 single base substitution G A missense_variant R880W 2638C>T BTCA-JP 17 56389544 56389544 single base substitution G A upstream_gene_variant BTCA-JP 17 56389600 56389600 single base substitution G A missense_variant A801V 2402C>T BTCA-JP 17 56389600 56389600 single base substitution G A missense_variant A861V 2582C>T BTCA-JP 17 56389600 56389600 single base substitution G A upstream_gene_variant BTCA-JP 17 56393223 56393223 single base substitution T C intron_variant BTCA-JP 17 56393223 56393223 single base substitution T C upstream_gene_variant BTCA-JP 17 56393305 56393305 single base substitution G A intron_variant BTCA-JP 17 56393305 56393305 single base substitution G A upstream_gene_variant BTCA-JP 17 56396572 56396572 single base substitution G A downstream_gene_variant BTCA-JP 17 56396572 56396572 single base substitution G A synonymous_variant R466R 1398C>T BTCA-JP 17 56396572 56396572 single base substitution G A synonymous_variant R526R 1578C>T BTCA-JP 17 56400120 56400120 single base substitution C T synonymous_variant A344A 1032G>A BTCA-JP 17 56400120 56400120 single base substitution C T synonymous_variant A404A 1212G>A BTCA-JP 17 56400120 56400120 single base substitution C T upstream_gene_variant BTCA-JP 17 56400151 56400151 single base substitution A G intron_variant BTCA-JP 17 56400151 56400151 single base substitution A G upstream_gene_variant BTCA-JP 17 56404279 56404279 single base substitution C A intron_variant BTCA-JP 17 56404279 56404279 single base substitution C A upstream_gene_variant CESC-US 17 56382430 56382430 single base substitution C T downstream_gene_variant CESC-US 17 56382430 56382430 single base substitution C T exon_variant CESC-US 17 56382430 56382430 single base substitution C T missense_variant E110K 328G>A CESC-US 17 56382430 56382430 single base substitution C T missense_variant E1786K 5356G>A CESC-US 17 56382430 56382430 single base substitution C T missense_variant E1846K 5536G>A CESC-US 17 56382430 56382430 single base substitution C T missense_variant E267K 799G>A CESC-US 17 56385241 56385241 single base substitution C G downstream_gene_variant CESC-US 17 56385241 56385241 single base substitution C G exon_variant CESC-US 17 56385241 56385241 single base substitution C G missense_variant R1538T 4613G>C CESC-US 17 56385241 56385241 single base substitution C G missense_variant R1598T 4793G>C CESC-US 17 56385241 56385241 single base substitution C G missense_variant R161T 482G>C CESC-US 17 56385241 56385241 single base substitution C G missense_variant R28T 83G>C CESC-US 17 56385241 56385241 single base substitution C G upstream_gene_variant CESC-US 17 56393399 56393399 single base substitution C G missense_variant D635H 1903G>C CESC-US 17 56393399 56393399 single base substitution C G missense_variant D695H 2083G>C CESC-US 17 56393399 56393399 single base substitution C G upstream_gene_variant CESC-US 17 56399684 56399684 single base substitution G A exon_variant CESC-US 17 56399684 56399684 single base substitution G A synonymous_variant V409V 1227C>T CESC-US 17 56399684 56399684 single base substitution G A synonymous_variant V469V 1407C>T CESC-US 17 56399716 56399716 single base substitution G A exon_variant CESC-US 17 56399716 56399716 single base substitution G A missense_variant R399W 1195C>T CESC-US 17 56399716 56399716 single base substitution G A missense_variant R459W 1375C>T CESC-US 17 56408533 56408533 single base substitution G A upstream_gene_variant CLLE-ES 17 56377400 56377400 single base substitution A G downstream_gene_variant CLLE-ES 17 56391281 56391281 single base substitution G C intron_variant CLLE-ES 17 56391281 56391281 single base substitution G C upstream_gene_variant CLLE-ES 17 56395712 56395712 single base substitution C A downstream_gene_variant CLLE-ES 17 56395712 56395712 single base substitution C A missense_variant A541S 1621G>T CLLE-ES 17 56395712 56395712 single base substitution C A missense_variant A601S 1801G>T CLLE-ES 17 56406476 56406476 single base substitution G C upstream_gene_variant CLLE-ES 17 56407553 56407556 deletion of <=200bp TATT - upstream_gene_variant CLLE-ES 17 56407579 56407582 deletion of <=200bp TCTA - upstream_gene_variant CLLE-ES 17 56408210 56408210 single base substitution C T upstream_gene_variant CLLE-ES 17 56408651 56408651 single base substitution C G upstream_gene_variant CLLE-ES 17 56408656 56408656 single base substitution T A upstream_gene_variant CLLE-ES 17 56409276 56409276 single base substitution C T upstream_gene_variant CLLE-ES 17 56409336 56409336 single base substitution C T upstream_gene_variant CLLE-ES 17 56409366 56409367 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant CLLE-ES 17 56409391 56409391 single base substitution G C upstream_gene_variant CLLE-ES 17 56409590 56409590 single base substitution G A upstream_gene_variant CLLE-ES 17 56409649 56409649 single base substitution A G upstream_gene_variant CLLE-ES 17 56409785 56409785 single base substitution G A upstream_gene_variant COAD-US 17 56382477 56382477 single base substitution C T downstream_gene_variant COAD-US 17 56382477 56382477 single base substitution C T exon_variant COAD-US 17 56382477 56382477 single base substitution C T missense_variant G1770E 5309G>A COAD-US 17 56382477 56382477 single base substitution C T missense_variant G1830E 5489G>A COAD-US 17 56382477 56382477 single base substitution C T missense_variant G251E 752G>A COAD-US 17 56382477 56382477 single base substitution C T missense_variant G94E 281G>A COAD-US 17 56383744 56383744 single base substitution T C downstream_gene_variant COAD-US 17 56383744 56383744 single base substitution T C exon_variant COAD-US 17 56383744 56383744 single base substitution T C missense_variant H149R 446A>G COAD-US 17 56383744 56383744 single base substitution T C missense_variant H1668R 5003A>G COAD-US 17 56383744 56383744 single base substitution T C missense_variant H1728R 5183A>G COAD-US 17 56383744 56383744 single base substitution T C missense_variant H282R 845A>G COAD-US 17 56383744 56383744 single base substitution T C upstream_gene_variant COAD-US 17 56386089 56386089 single base substitution C A downstream_gene_variant COAD-US 17 56386089 56386089 single base substitution C A intron_variant COAD-US 17 56386089 56386089 single base substitution C A missense_variant S1455I 4364G>T COAD-US 17 56386089 56386089 single base substitution C A missense_variant S1515I 4544G>T COAD-US 17 56386089 56386089 single base substitution C A upstream_gene_variant COAD-US 17 56386118 56386118 single base substitution A G downstream_gene_variant COAD-US 17 56386118 56386118 single base substitution A G intron_variant COAD-US 17 56386118 56386118 single base substitution A G synonymous_variant D1445D 4335T>C COAD-US 17 56386118 56386118 single base substitution A G synonymous_variant D1505D 4515T>C COAD-US 17 56386118 56386118 single base substitution A G upstream_gene_variant COAD-US 17 56386258 56386258 single base substitution T C downstream_gene_variant COAD-US 17 56386258 56386258 single base substitution T C intron_variant COAD-US 17 56386258 56386258 single base substitution T C missense_variant R1399G 4195A>G COAD-US 17 56386258 56386258 single base substitution T C missense_variant R1459G 4375A>G COAD-US 17 56386258 56386258 single base substitution T C upstream_gene_variant COAD-US 17 56386289 56386289 single base substitution C T downstream_gene_variant COAD-US 17 56386289 56386289 single base substitution C T intron_variant COAD-US 17 56386289 56386289 single base substitution C T synonymous_variant E1388E 4164G>A COAD-US 17 56386289 56386289 single base substitution C T synonymous_variant E1448E 4344G>A COAD-US 17 56386289 56386289 single base substitution C T upstream_gene_variant COAD-US 17 56386358 56386358 single base substitution T A downstream_gene_variant COAD-US 17 56386358 56386358 single base substitution T A intron_variant COAD-US 17 56386358 56386358 single base substitution T A synonymous_variant R1365R 4095A>T COAD-US 17 56386358 56386358 single base substitution T A synonymous_variant R1425R 4275A>T COAD-US 17 56386358 56386358 single base substitution T A upstream_gene_variant COAD-US 17 56386556 56386556 single base substitution C T downstream_gene_variant COAD-US 17 56386556 56386556 single base substitution C T intron_variant COAD-US 17 56386556 56386556 single base substitution C T synonymous_variant P1299P 3897G>A COAD-US 17 56386556 56386556 single base substitution C T synonymous_variant P1359P 4077G>A COAD-US 17 56386556 56386556 single base substitution C T upstream_gene_variant COAD-US 17 56386607 56386607 insertion of <=200bp - TCCTCCTCT downstream_gene_variant COAD-US 17 56386607 56386607 insertion of <=200bp - TCCTCCTCT inframe_insertion D1282DRGG COAD-US 17 56386607 56386607 insertion of <=200bp - TCCTCCTCT inframe_insertion D1342DRGG COAD-US 17 56386607 56386607 insertion of <=200bp - TCCTCCTCT intron_variant COAD-US 17 56386607 56386607 insertion of <=200bp - TCCTCCTCT upstream_gene_variant COAD-US 17 56386610 56386610 insertion of <=200bp - TCCTCTTCC downstream_gene_variant COAD-US 17 56386610 56386610 insertion of <=200bp - TCCTCTTCC inframe_insertion E1281EGRG COAD-US 17 56386610 56386610 insertion of <=200bp - TCCTCTTCC inframe_insertion E1341EGRG COAD-US 17 56386610 56386610 insertion of <=200bp - TCCTCTTCC intron_variant COAD-US 17 56386610 56386610 insertion of <=200bp - TCCTCTTCC upstream_gene_variant COAD-US 17 56386732 56386732 single base substitution C T downstream_gene_variant COAD-US 17 56386732 56386732 single base substitution C T intron_variant COAD-US 17 56386732 56386732 single base substitution C T missense_variant D1241N 3721G>A COAD-US 17 56386732 56386732 single base substitution C T missense_variant D1301N 3901G>A COAD-US 17 56386732 56386732 single base substitution C T upstream_gene_variant COAD-US 17 56387923 56387923 single base substitution C T downstream_gene_variant COAD-US 17 56387923 56387923 single base substitution C T missense_variant E1157K 3469G>A COAD-US 17 56387923 56387923 single base substitution C T missense_variant E1217K 3649G>A COAD-US 17 56387923 56387923 single base substitution C T missense_variant E60K 178G>A COAD-US 17 56387923 56387923 single base substitution C T upstream_gene_variant COAD-US 17 56388224 56388224 single base substitution G A downstream_gene_variant COAD-US 17 56388224 56388224 single base substitution G A synonymous_variant H1084H 3252C>T COAD-US 17 56388224 56388224 single base substitution G A synonymous_variant H1144H 3432C>T COAD-US 17 56388224 56388224 single base substitution G A upstream_gene_variant COAD-US 17 56388238 56388238 single base substitution C G downstream_gene_variant COAD-US 17 56388238 56388238 single base substitution C G missense_variant A1080P 3238G>C COAD-US 17 56388238 56388238 single base substitution C G missense_variant A1140P 3418G>C COAD-US 17 56388238 56388238 single base substitution C G upstream_gene_variant COAD-US 17 56388356 56388356 single base substitution C T downstream_gene_variant COAD-US 17 56388356 56388356 single base substitution C T synonymous_variant A1040A 3120G>A COAD-US 17 56388356 56388356 single base substitution C T synonymous_variant A1100A 3300G>A COAD-US 17 56388356 56388356 single base substitution C T upstream_gene_variant COAD-US 17 56388380 56388380 single base substitution C T downstream_gene_variant COAD-US 17 56388380 56388380 single base substitution C T synonymous_variant P1032P 3096G>A COAD-US 17 56388380 56388380 single base substitution C T synonymous_variant P1092P 3276G>A COAD-US 17 56388380 56388380 single base substitution C T upstream_gene_variant COAD-US 17 56388483 56388483 single base substitution C T downstream_gene_variant COAD-US 17 56388483 56388483 single base substitution C T missense_variant R1058H 3173G>A COAD-US 17 56388483 56388483 single base substitution C T missense_variant R998H 2993G>A COAD-US 17 56388483 56388483 single base substitution C T upstream_gene_variant COAD-US 17 56389732 56389732 single base substitution T C missense_variant Q757R 2270A>G COAD-US 17 56389732 56389732 single base substitution T C missense_variant Q817R 2450A>G COAD-US 17 56389732 56389732 single base substitution T C upstream_gene_variant COAD-US 17 56389836 56389836 single base substitution C T synonymous_variant P722P 2166G>A COAD-US 17 56389836 56389836 single base substitution C T synonymous_variant P782P 2346G>A COAD-US 17 56389836 56389836 single base substitution C T upstream_gene_variant COAD-US 17 56389844 56389844 single base substitution G T missense_variant P720T 2158C>A COAD-US 17 56389844 56389844 single base substitution G T missense_variant P780T 2338C>A COAD-US 17 56389844 56389844 single base substitution G T upstream_gene_variant COAD-US 17 56389985 56389985 single base substitution C A missense_variant D673Y 2017G>T COAD-US 17 56389985 56389985 single base substitution C A missense_variant D733Y 2197G>T COAD-US 17 56389985 56389985 single base substitution C A upstream_gene_variant COAD-US 17 56396609 56396609 single base substitution T C downstream_gene_variant COAD-US 17 56396609 56396609 single base substitution T C missense_variant Q454R 1361A>G COAD-US 17 56396609 56396609 single base substitution T C missense_variant Q514R 1541A>G COAD-US 17 56399748 56399748 single base substitution C T exon_variant COAD-US 17 56399748 56399748 single base substitution C T missense_variant R388Q 1163G>A COAD-US 17 56399748 56399748 single base substitution C T missense_variant R448Q 1343G>A COAD-US 17 56400901 56400901 single base substitution C T synonymous_variant T256T 768G>A COAD-US 17 56400901 56400901 single base substitution C T synonymous_variant T316T 948G>A COAD-US 17 56400901 56400901 single base substitution C T upstream_gene_variant COAD-US 17 56404079 56404079 single base substitution G A missense_variant R136C 406C>T COAD-US 17 56404079 56404079 single base substitution G A upstream_gene_variant COAD-US 17 56405024 56405024 single base substitution G A synonymous_variant S86S 258C>T COAD-US 17 56405024 56405024 single base substitution G A upstream_gene_variant COAD-US 17 56405046 56405046 single base substitution C T missense_variant G79E 236G>A COAD-US 17 56405046 56405046 single base substitution C T upstream_gene_variant COAD-US 17 56405061 56405061 deletion of <=200bp C - frameshift_variant G74 COAD-US 17 56405061 56405061 deletion of <=200bp C - upstream_gene_variant COCA-CN 17 56379700 56379700 single base substitution C T 3_prime_UTR_variant COCA-CN 17 56379700 56379700 single base substitution C T downstream_gene_variant COCA-CN 17 56379700 56379700 single base substitution C T exon_variant COCA-CN 17 56379700 56379700 single base substitution C T missense_variant E149K 445G>A COCA-CN 17 56379700 56379700 single base substitution C T missense_variant E1885K 5653G>A COCA-CN 17 56381691 56381691 single base substitution C T downstream_gene_variant COCA-CN 17 56381691 56381691 single base substitution C T exon_variant COCA-CN 17 56381691 56381691 single base substitution C T intron_variant COCA-CN 17 56381691 56381691 single base substitution C T splice_region_variant COCA-CN 17 56382662 56382662 single base substitution G A downstream_gene_variant COCA-CN 17 56382662 56382662 single base substitution G A exon_variant COCA-CN 17 56382662 56382662 single base substitution G A intron_variant COCA-CN 17 56382959 56382959 single base substitution G C downstream_gene_variant COCA-CN 17 56382959 56382959 single base substitution G C exon_variant COCA-CN 17 56382959 56382959 single base substitution G C missense_variant S1708C 5123C>G COCA-CN 17 56382959 56382959 single base substitution G C missense_variant S1768C 5303C>G COCA-CN 17 56382959 56382959 single base substitution G C missense_variant S189C 566C>G COCA-CN 17 56382959 56382959 single base substitution G C missense_variant S32C 95C>G COCA-CN 17 56382959 56382959 single base substitution G C upstream_gene_variant COCA-CN 17 56383744 56383744 single base substitution T C downstream_gene_variant COCA-CN 17 56383744 56383744 single base substitution T C exon_variant COCA-CN 17 56383744 56383744 single base substitution T C missense_variant H149R 446A>G COCA-CN 17 56383744 56383744 single base substitution T C missense_variant H1668R 5003A>G COCA-CN 17 56383744 56383744 single base substitution T C missense_variant H1728R 5183A>G COCA-CN 17 56383744 56383744 single base substitution T C missense_variant H282R 845A>G COCA-CN 17 56383744 56383744 single base substitution T C upstream_gene_variant COCA-CN 17 56385060 56385060 single base substitution G A downstream_gene_variant COCA-CN 17 56385060 56385060 single base substitution G A exon_variant COCA-CN 17 56385060 56385060 single base substitution G A missense_variant A1572V 4715C>T COCA-CN 17 56385060 56385060 single base substitution G A missense_variant A1632V 4895C>T COCA-CN 17 56385060 56385060 single base substitution G A missense_variant A195V 584C>T COCA-CN 17 56385060 56385060 single base substitution G A missense_variant A62V 185C>T COCA-CN 17 56385060 56385060 single base substitution G A upstream_gene_variant COCA-CN 17 56385270 56385270 single base substitution G A downstream_gene_variant COCA-CN 17 56385270 56385270 single base substitution G A exon_variant COCA-CN 17 56385270 56385270 single base substitution G A synonymous_variant D151D 453C>T COCA-CN 17 56385270 56385270 single base substitution G A synonymous_variant D1528D 4584C>T COCA-CN 17 56385270 56385270 single base substitution G A synonymous_variant D1588D 4764C>T COCA-CN 17 56385270 56385270 single base substitution G A synonymous_variant D18D 54C>T COCA-CN 17 56385270 56385270 single base substitution G A upstream_gene_variant COCA-CN 17 56386871 56386871 single base substitution G A downstream_gene_variant COCA-CN 17 56386871 56386871 single base substitution G A intron_variant COCA-CN 17 56386871 56386871 single base substitution G A upstream_gene_variant COCA-CN 17 56390065 56390065 single base substitution C T missense_variant R646Q 1937G>A COCA-CN 17 56390065 56390065 single base substitution C T missense_variant R706Q 2117G>A COCA-CN 17 56390065 56390065 single base substitution C T upstream_gene_variant COCA-CN 17 56390184 56390184 single base substitution A G intron_variant COCA-CN 17 56390184 56390184 single base substitution A G upstream_gene_variant COCA-CN 17 56390201 56390201 single base substitution C G intron_variant COCA-CN 17 56390201 56390201 single base substitution C G upstream_gene_variant COCA-CN 17 56393297 56393297 single base substitution G A intron_variant COCA-CN 17 56393297 56393297 single base substitution G A upstream_gene_variant COCA-CN 17 56393946 56393946 single base substitution C T intron_variant COCA-CN 17 56393946 56393946 single base substitution C T upstream_gene_variant COCA-CN 17 56396468 56396468 single base substitution C T downstream_gene_variant COCA-CN 17 56396468 56396468 single base substitution C T missense_variant R501Q 1502G>A COCA-CN 17 56396468 56396468 single base substitution C T missense_variant R561Q 1682G>A COCA-CN 17 56403056 56403056 single base substitution G A intron_variant COCA-CN 17 56403056 56403056 single base substitution G A missense_variant R197W 589C>T COCA-CN 17 56403056 56403056 single base substitution G A upstream_gene_variant COCA-CN 17 56404153 56404153 single base substitution T C splice_acceptor_variant COCA-CN 17 56404153 56404153 single base substitution T C upstream_gene_variant COCA-CN 17 56405294 56405294 single base substitution G T 5_prime_UTR_variant ESAD-UK 17 56373692 56373692 single base substitution C G downstream_gene_variant ESAD-UK 17 56373951 56373951 deletion of <=200bp A - downstream_gene_variant ESAD-UK 17 56374598 56374598 single base substitution C A downstream_gene_variant ESAD-UK 17 56375281 56375281 single base substitution G A downstream_gene_variant ESAD-UK 17 56378125 56378125 single base substitution A T downstream_gene_variant ESAD-UK 17 56378883 56378883 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 56378883 56378883 single base substitution G A downstream_gene_variant ESAD-UK 17 56378883 56378883 single base substitution G A exon_variant ESAD-UK 17 56379261 56379261 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 56379261 56379261 single base substitution C T downstream_gene_variant ESAD-UK 17 56379261 56379261 single base substitution C T exon_variant ESAD-UK 17 56380750 56380750 single base substitution G A downstream_gene_variant ESAD-UK 17 56380750 56380750 single base substitution G A exon_variant ESAD-UK 17 56380750 56380750 single base substitution G A intron_variant ESAD-UK 17 56384432 56384432 single base substitution C A downstream_gene_variant ESAD-UK 17 56384432 56384432 single base substitution C A intron_variant ESAD-UK 17 56384432 56384432 single base substitution C A upstream_gene_variant ESAD-UK 17 56389167 56389167 single base substitution C T intron_variant ESAD-UK 17 56389167 56389167 single base substitution C T upstream_gene_variant ESAD-UK 17 56389919 56389919 single base substitution C T missense_variant G695R 2083G>A ESAD-UK 17 56389919 56389919 single base substitution C T missense_variant G755R 2263G>A ESAD-UK 17 56389919 56389919 single base substitution C T upstream_gene_variant ESAD-UK 17 56390923 56390923 single base substitution C T intron_variant ESAD-UK 17 56390923 56390923 single base substitution C T upstream_gene_variant ESAD-UK 17 56394067 56394067 single base substitution T C intron_variant ESAD-UK 17 56394067 56394067 single base substitution T C upstream_gene_variant ESAD-UK 17 56394544 56394544 single base substitution G A downstream_gene_variant ESAD-UK 17 56394544 56394544 single base substitution G A intron_variant ESAD-UK 17 56395524 56395524 single base substitution T G downstream_gene_variant ESAD-UK 17 56395524 56395524 single base substitution T G intron_variant ESAD-UK 17 56396126 56396126 single base substitution C T downstream_gene_variant ESAD-UK 17 56396126 56396126 single base substitution C T intron_variant ESAD-UK 17 56396590 56396590 single base substitution C A downstream_gene_variant ESAD-UK 17 56396590 56396590 single base substitution C A missense_variant Q460H 1380G>T ESAD-UK 17 56396590 56396590 single base substitution C A missense_variant Q520H 1560G>T ESAD-UK 17 56400811 56400811 single base substitution C T intron_variant ESAD-UK 17 56400811 56400811 single base substitution C T upstream_gene_variant ESAD-UK 17 56401536 56401536 single base substitution G C intron_variant ESAD-UK 17 56401536 56401536 single base substitution G C upstream_gene_variant ESAD-UK 17 56405284 56405284 single base substitution T C 5_prime_UTR_variant ESAD-UK 17 56407355 56407355 single base substitution G A upstream_gene_variant ESAD-UK 17 56407884 56407884 single base substitution G A upstream_gene_variant ESAD-UK 17 56408305 56408305 single base substitution C T upstream_gene_variant ESAD-UK 17 56410865 56410865 single base substitution G A upstream_gene_variant ESCA-CN 17 56389731 56389731 single base substitution T A missense_variant Q757H 2271A>T ESCA-CN 17 56389731 56389731 single base substitution T A missense_variant Q817H 2451A>T ESCA-CN 17 56389731 56389731 single base substitution T A upstream_gene_variant ESCA-CN 17 56400087 56400087 single base substitution C A missense_variant Q355H 1065G>T ESCA-CN 17 56400087 56400087 single base substitution C A missense_variant Q415H 1245G>T ESCA-CN 17 56400087 56400087 single base substitution C A upstream_gene_variant GBM-US 17 56382781 56382781 single base substitution C A downstream_gene_variant GBM-US 17 56382781 56382781 single base substitution C A exon_variant GBM-US 17 56382781 56382781 single base substitution C A synonymous_variant V1740V 5220G>T GBM-US 17 56382781 56382781 single base substitution C A synonymous_variant V1800V 5400G>T GBM-US 17 56382781 56382781 single base substitution C A synonymous_variant V221V 663G>T GBM-US 17 56382781 56382781 single base substitution C A synonymous_variant V64V 192G>T GBM-US 17 56382781 56382781 single base substitution C A upstream_gene_variant GBM-US 17 56389930 56389930 single base substitution C G missense_variant G691A 2072G>C GBM-US 17 56389930 56389930 single base substitution C G missense_variant G751A 2252G>C GBM-US 17 56389930 56389930 single base substitution C G upstream_gene_variant KIRC-US 17 56386194 56386194 single base substitution C T downstream_gene_variant KIRC-US 17 56386194 56386194 single base substitution C T intron_variant KIRC-US 17 56386194 56386194 single base substitution C T missense_variant R1420Q 4259G>A KIRC-US 17 56386194 56386194 single base substitution C T missense_variant R1480Q 4439G>A KIRC-US 17 56386194 56386194 single base substitution C T upstream_gene_variant KIRC-US 17 56386383 56386383 insertion of <=200bp - T downstream_gene_variant KIRC-US 17 56386383 56386383 insertion of <=200bp - T frameshift_variant S1357R? KIRC-US 17 56386383 56386383 insertion of <=200bp - T frameshift_variant S1417R? KIRC-US 17 56386383 56386383 insertion of <=200bp - T intron_variant KIRC-US 17 56386383 56386383 insertion of <=200bp - T upstream_gene_variant KIRC-US 17 56386671 56386671 insertion of <=200bp - G downstream_gene_variant KIRC-US 17 56386671 56386671 insertion of <=200bp - G frameshift_variant L1261L? KIRC-US 17 56386671 56386671 insertion of <=200bp - G frameshift_variant L1321L? KIRC-US 17 56386671 56386671 insertion of <=200bp - G intron_variant KIRC-US 17 56386671 56386671 insertion of <=200bp - G upstream_gene_variant KIRC-US 17 56395795 56395795 single base substitution C T downstream_gene_variant KIRC-US 17 56395795 56395795 single base substitution C T missense_variant G513D 1538G>A KIRC-US 17 56395795 56395795 single base substitution C T missense_variant G573D 1718G>A KIRC-US 17 56395796 56395796 single base substitution C T downstream_gene_variant KIRC-US 17 56395796 56395796 single base substitution C T missense_variant G513S 1537G>A KIRC-US 17 56395796 56395796 single base substitution C T missense_variant G573S 1717G>A KIRP-US 17 56382447 56382447 single base substitution G A downstream_gene_variant KIRP-US 17 56382447 56382447 single base substitution G A exon_variant KIRP-US 17 56382447 56382447 single base substitution G A missense_variant P104L 311C>T KIRP-US 17 56382447 56382447 single base substitution G A missense_variant P1780L 5339C>T KIRP-US 17 56382447 56382447 single base substitution G A missense_variant P1840L 5519C>T KIRP-US 17 56382447 56382447 single base substitution G A missense_variant P261L 782C>T KIRP-US 17 56386306 56386306 single base substitution G T downstream_gene_variant KIRP-US 17 56386306 56386306 single base substitution G T intron_variant KIRP-US 17 56386306 56386306 single base substitution G T missense_variant L1383M 4147C>A KIRP-US 17 56386306 56386306 single base substitution G T missense_variant L1443M 4327C>A KIRP-US 17 56386306 56386306 single base substitution G T upstream_gene_variant LAML-KR 17 56373698 56373698 single base substitution C A downstream_gene_variant LAML-KR 17 56393297 56393297 single base substitution G A intron_variant LAML-KR 17 56393297 56393297 single base substitution G A upstream_gene_variant LAML-KR 17 56393305 56393305 single base substitution G A intron_variant LAML-KR 17 56393305 56393305 single base substitution G A upstream_gene_variant LAML-KR 17 56395757 56395757 single base substitution C T downstream_gene_variant LAML-KR 17 56395757 56395757 single base substitution C T missense_variant A526T 1576G>A LAML-KR 17 56395757 56395757 single base substitution C T missense_variant A586T 1756G>A LGG-US 17 56388978 56388978 single base substitution T C exon_variant LGG-US 17 56388978 56388978 single base substitution T C missense_variant N1012S 3035A>G LGG-US 17 56388978 56388978 single base substitution T C missense_variant N952S 2855A>G LGG-US 17 56388978 56388978 single base substitution T C upstream_gene_variant LGG-US 17 56393488 56393488 single base substitution T C missense_variant N605S 1814A>G LGG-US 17 56393488 56393488 single base substitution T C missense_variant N665S 1994A>G LGG-US 17 56393488 56393488 single base substitution T C upstream_gene_variant LGG-US 17 56402928 56402928 single base substitution C T intron_variant LGG-US 17 56402928 56402928 single base substitution C T synonymous_variant R239R 717G>A LGG-US 17 56402928 56402928 single base substitution C T upstream_gene_variant LICA-CN 17 56384234 56384234 single base substitution C A downstream_gene_variant LICA-CN 17 56384234 56384234 single base substitution C A synonymous_variant V123V 369G>T LICA-CN 17 56384234 56384234 single base substitution C A synonymous_variant V1633V 4899G>T LICA-CN 17 56384234 56384234 single base substitution C A synonymous_variant V1693V 5079G>T LICA-CN 17 56384234 56384234 single base substitution C A synonymous_variant V256V 768G>T LICA-CN 17 56384234 56384234 single base substitution C A upstream_gene_variant LICA-FR 17 56381753 56381753 single base substitution C A downstream_gene_variant LICA-FR 17 56381753 56381753 single base substitution C A exon_variant LICA-FR 17 56381753 56381753 single base substitution C A intron_variant LICA-FR 17 56381753 56381753 single base substitution C A missense_variant R1791M 5372G>T LICA-FR 17 56381753 56381753 single base substitution C A missense_variant R1851M 5552G>T LICA-FR 17 56389324 56389324 single base substitution C T exon_variant LICA-FR 17 56389324 56389324 single base substitution C T missense_variant G893E 2678G>A LICA-FR 17 56389324 56389324 single base substitution C T missense_variant G953E 2858G>A LICA-FR 17 56389324 56389324 single base substitution C T upstream_gene_variant LICA-FR 17 56389538 56389538 single base substitution C A stop_gained G822* 2464G>T LICA-FR 17 56389538 56389538 single base substitution C A stop_gained G882* 2644G>T LICA-FR 17 56389538 56389538 single base substitution C A upstream_gene_variant LICA-FR 17 56389986 56389986 single base substitution G A synonymous_variant A672A 2016C>T LICA-FR 17 56389986 56389986 single base substitution G A synonymous_variant A732A 2196C>T LICA-FR 17 56389986 56389986 single base substitution G A upstream_gene_variant LICA-FR 17 56392078 56392078 single base substitution G C intron_variant LICA-FR 17 56392078 56392078 single base substitution G C upstream_gene_variant LICA-FR 17 56396611 56396611 single base substitution C T downstream_gene_variant LICA-FR 17 56396611 56396611 single base substitution C T synonymous_variant E453E 1359G>A LICA-FR 17 56396611 56396611 single base substitution C T synonymous_variant E513E 1539G>A LICA-FR 17 56398275 56398275 single base substitution C A downstream_gene_variant LICA-FR 17 56398275 56398275 single base substitution C A intron_variant LICA-FR 17 56400095 56400095 single base substitution C T missense_variant V353M 1057G>A LICA-FR 17 56400095 56400095 single base substitution C T missense_variant V413M 1237G>A LICA-FR 17 56400095 56400095 single base substitution C T upstream_gene_variant LIHC-US 17 56384317 56384317 single base substitution T C downstream_gene_variant LIHC-US 17 56384317 56384317 single base substitution T C missense_variant K1606E 4816A>G LIHC-US 17 56384317 56384317 single base substitution T C missense_variant K1666E 4996A>G LIHC-US 17 56384317 56384317 single base substitution T C missense_variant K229E 685A>G LIHC-US 17 56384317 56384317 single base substitution T C missense_variant K96E 286A>G LIHC-US 17 56384317 56384317 single base substitution T C upstream_gene_variant LIHC-US 17 56388536 56388536 single base substitution C A downstream_gene_variant LIHC-US 17 56388536 56388536 single base substitution C A synonymous_variant L1040L 3120G>T LIHC-US 17 56388536 56388536 single base substitution C A synonymous_variant L980L 2940G>T LIHC-US 17 56388536 56388536 single base substitution C A upstream_gene_variant LIHC-US 17 56389687 56389687 single base substitution C T missense_variant R772Q 2315G>A LIHC-US 17 56389687 56389687 single base substitution C T missense_variant R832Q 2495G>A LIHC-US 17 56389687 56389687 single base substitution C T upstream_gene_variant LIHC-US 17 56400053 56400053 single base substitution G A exon_variant LIHC-US 17 56400053 56400053 single base substitution G A synonymous_variant L367L 1099C>T LIHC-US 17 56400053 56400053 single base substitution G A synonymous_variant L427L 1279C>T LINC-JP 17 56381642 56381642 single base substitution T C downstream_gene_variant LINC-JP 17 56381642 56381642 single base substitution T C exon_variant LINC-JP 17 56381642 56381642 single base substitution T C intron_variant LINC-JP 17 56383746 56383746 single base substitution G T downstream_gene_variant LINC-JP 17 56383746 56383746 single base substitution G T exon_variant LINC-JP 17 56383746 56383746 single base substitution G T splice_region_variant LINC-JP 17 56383746 56383746 single base substitution G T synonymous_variant A1667A 5001C>A LINC-JP 17 56383746 56383746 single base substitution G T synonymous_variant A1727A 5181C>A LINC-JP 17 56383746 56383746 single base substitution G T upstream_gene_variant LINC-JP 17 56384118 56384118 single base substitution G T downstream_gene_variant LINC-JP 17 56384118 56384118 single base substitution G T exon_variant LINC-JP 17 56384118 56384118 single base substitution G T intron_variant LINC-JP 17 56384118 56384118 single base substitution G T upstream_gene_variant LINC-JP 17 56388244 56388244 single base substitution C G downstream_gene_variant LINC-JP 17 56388244 56388244 single base substitution C G missense_variant E1078Q 3232G>C LINC-JP 17 56388244 56388244 single base substitution C G missense_variant E1138Q 3412G>C LINC-JP 17 56388244 56388244 single base substitution C G upstream_gene_variant LINC-JP 17 56389068 56389068 single base substitution G T exon_variant LINC-JP 17 56389068 56389068 single base substitution G T missense_variant P922H 2765C>A LINC-JP 17 56389068 56389068 single base substitution G T missense_variant P982H 2945C>A LINC-JP 17 56389068 56389068 single base substitution G T upstream_gene_variant LINC-JP 17 56389121 56389121 single base substitution C T intron_variant LINC-JP 17 56389121 56389121 single base substitution C T upstream_gene_variant LINC-JP 17 56396497 56396497 deletion of <=200bp G - downstream_gene_variant LINC-JP 17 56396497 56396497 deletion of <=200bp G - frameshift_variant P491 LINC-JP 17 56396497 56396497 deletion of <=200bp G - frameshift_variant P551 LINC-JP 17 56399814 56399814 single base substitution G C intron_variant LINC-JP 17 56403572 56403572 single base substitution G A intron_variant LINC-JP 17 56403572 56403572 single base substitution G A upstream_gene_variant LINC-JP 17 56403627 56403627 single base substitution C A intron_variant LINC-JP 17 56403627 56403627 single base substitution C A upstream_gene_variant LINC-JP 17 56404833 56404833 single base substitution C T intron_variant LINC-JP 17 56404833 56404833 single base substitution C T upstream_gene_variant LINC-JP 17 56405283 56405283 single base substitution G A 5_prime_UTR_variant LINC-JP 17 56410912 56410912 single base substitution A C upstream_gene_variant LIRI-JP 17 56374694 56374694 single base substitution A G downstream_gene_variant LIRI-JP 17 56375192 56375192 single base substitution C G downstream_gene_variant LIRI-JP 17 56377318 56377318 single base substitution A G downstream_gene_variant LIRI-JP 17 56379631 56379631 single base substitution A T 3_prime_UTR_variant LIRI-JP 17 56379631 56379631 single base substitution A T downstream_gene_variant LIRI-JP 17 56379631 56379631 single base substitution A T exon_variant LIRI-JP 17 56379631 56379631 single base substitution A T stop_lost *172R 514T>A LIRI-JP 17 56379631 56379631 single base substitution A T stop_lost *1908R 5722T>A LIRI-JP 17 56381420 56381420 single base substitution T C downstream_gene_variant LIRI-JP 17 56381420 56381420 single base substitution T C exon_variant LIRI-JP 17 56381420 56381420 single base substitution T C intron_variant LIRI-JP 17 56385145 56385145 single base substitution C T downstream_gene_variant LIRI-JP 17 56385145 56385145 single base substitution C T intron_variant LIRI-JP 17 56385145 56385145 single base substitution C T upstream_gene_variant LIRI-JP 17 56385338 56385338 single base substitution C A downstream_gene_variant LIRI-JP 17 56385338 56385338 single base substitution C A intron_variant LIRI-JP 17 56385338 56385338 single base substitution C A upstream_gene_variant LIRI-JP 17 56387588 56387588 single base substitution C T downstream_gene_variant LIRI-JP 17 56387588 56387588 single base substitution C T intron_variant LIRI-JP 17 56387588 56387588 single base substitution C T upstream_gene_variant LIRI-JP 17 56387700 56387700 single base substitution C T downstream_gene_variant LIRI-JP 17 56387700 56387700 single base substitution C T intron_variant LIRI-JP 17 56387700 56387700 single base substitution C T upstream_gene_variant LIRI-JP 17 56391528 56391528 single base substitution C T intron_variant LIRI-JP 17 56391528 56391528 single base substitution C T upstream_gene_variant LIRI-JP 17 56391848 56391848 single base substitution G C intron_variant LIRI-JP 17 56391848 56391848 single base substitution G C upstream_gene_variant LIRI-JP 17 56393234 56393234 single base substitution G A intron_variant LIRI-JP 17 56393234 56393234 single base substitution G A upstream_gene_variant LIRI-JP 17 56393467 56393467 single base substitution T C missense_variant E612G 1835A>G LIRI-JP 17 56393467 56393467 single base substitution T C missense_variant E672G 2015A>G LIRI-JP 17 56393467 56393467 single base substitution T C upstream_gene_variant LIRI-JP 17 56404679 56404679 single base substitution C T intron_variant LIRI-JP 17 56404679 56404679 single base substitution C T upstream_gene_variant LIRI-JP 17 56404756 56404756 single base substitution G A intron_variant LIRI-JP 17 56404756 56404756 single base substitution G A upstream_gene_variant LIRI-JP 17 56410965 56410965 single base substitution G A upstream_gene_variant LUSC-KR 17 56374367 56374367 single base substitution A G downstream_gene_variant LUSC-KR 17 56383187 56383187 single base substitution C T downstream_gene_variant LUSC-KR 17 56383187 56383187 single base substitution C T splice_region_variant LUSC-KR 17 56383187 56383187 single base substitution C T upstream_gene_variant LUSC-KR 17 56383744 56383744 single base substitution T C downstream_gene_variant LUSC-KR 17 56383744 56383744 single base substitution T C exon_variant LUSC-KR 17 56383744 56383744 single base substitution T C missense_variant H149R 446A>G LUSC-KR 17 56383744 56383744 single base substitution T C missense_variant H1668R 5003A>G LUSC-KR 17 56383744 56383744 single base substitution T C missense_variant H1728R 5183A>G LUSC-KR 17 56383744 56383744 single base substitution T C missense_variant H282R 845A>G LUSC-KR 17 56383744 56383744 single base substitution T C upstream_gene_variant LUSC-KR 17 56384022 56384022 single base substitution A C downstream_gene_variant LUSC-KR 17 56384022 56384022 single base substitution A C exon_variant LUSC-KR 17 56384022 56384022 single base substitution A C intron_variant LUSC-KR 17 56384022 56384022 single base substitution A C upstream_gene_variant LUSC-KR 17 56384217 56384217 single base substitution C T downstream_gene_variant LUSC-KR 17 56384217 56384217 single base substitution C T exon_variant LUSC-KR 17 56384217 56384217 single base substitution C T missense_variant R129K 386G>A LUSC-KR 17 56384217 56384217 single base substitution C T missense_variant R1639K 4916G>A LUSC-KR 17 56384217 56384217 single base substitution C T missense_variant R1699K 5096G>A LUSC-KR 17 56384217 56384217 single base substitution C T missense_variant R262K 785G>A LUSC-KR 17 56384217 56384217 single base substitution C T upstream_gene_variant LUSC-KR 17 56384374 56384374 single base substitution A G downstream_gene_variant LUSC-KR 17 56384374 56384374 single base substitution A G intron_variant LUSC-KR 17 56384374 56384374 single base substitution A G upstream_gene_variant LUSC-KR 17 56384928 56384928 single base substitution C T downstream_gene_variant LUSC-KR 17 56384928 56384928 single base substitution C T exon_variant LUSC-KR 17 56384928 56384928 single base substitution C T intron_variant LUSC-KR 17 56384928 56384928 single base substitution C T upstream_gene_variant LUSC-KR 17 56385145 56385145 single base substitution C T downstream_gene_variant LUSC-KR 17 56385145 56385145 single base substitution C T intron_variant LUSC-KR 17 56385145 56385145 single base substitution C T upstream_gene_variant LUSC-KR 17 56385444 56385444 single base substitution T G downstream_gene_variant LUSC-KR 17 56385444 56385444 single base substitution T G intron_variant LUSC-KR 17 56385444 56385444 single base substitution T G upstream_gene_variant LUSC-KR 17 56386118 56386118 single base substitution A G downstream_gene_variant LUSC-KR 17 56386118 56386118 single base substitution A G intron_variant LUSC-KR 17 56386118 56386118 single base substitution A G synonymous_variant D1445D 4335T>C LUSC-KR 17 56386118 56386118 single base substitution A G synonymous_variant D1505D 4515T>C LUSC-KR 17 56386118 56386118 single base substitution A G upstream_gene_variant LUSC-KR 17 56386358 56386358 single base substitution T A downstream_gene_variant LUSC-KR 17 56386358 56386358 single base substitution T A intron_variant LUSC-KR 17 56386358 56386358 single base substitution T A synonymous_variant R1365R 4095A>T LUSC-KR 17 56386358 56386358 single base substitution T A synonymous_variant R1425R 4275A>T LUSC-KR 17 56386358 56386358 single base substitution T A upstream_gene_variant LUSC-KR 17 56388683 56388683 single base substitution C T downstream_gene_variant LUSC-KR 17 56388683 56388683 single base substitution C T intron_variant LUSC-KR 17 56388683 56388683 single base substitution C T upstream_gene_variant LUSC-KR 17 56388927 56388927 single base substitution T C exon_variant LUSC-KR 17 56388927 56388927 single base substitution T C splice_region_variant LUSC-KR 17 56388927 56388927 single base substitution T C upstream_gene_variant LUSC-KR 17 56389613 56389613 single base substitution T C missense_variant I797V 2389A>G LUSC-KR 17 56389613 56389613 single base substitution T C missense_variant I857V 2569A>G LUSC-KR 17 56389613 56389613 single base substitution T C upstream_gene_variant LUSC-KR 17 56389631 56389631 single base substitution A G missense_variant W791R 2371T>C LUSC-KR 17 56389631 56389631 single base substitution A G missense_variant W851R 2551T>C LUSC-KR 17 56389631 56389631 single base substitution A G upstream_gene_variant LUSC-KR 17 56392506 56392506 single base substitution T A intron_variant LUSC-KR 17 56392506 56392506 single base substitution T A upstream_gene_variant LUSC-KR 17 56393248 56393248 single base substitution G A intron_variant LUSC-KR 17 56393248 56393248 single base substitution G A upstream_gene_variant LUSC-KR 17 56393293 56393293 single base substitution A G intron_variant LUSC-KR 17 56393293 56393293 single base substitution A G upstream_gene_variant LUSC-KR 17 56393297 56393297 single base substitution G A intron_variant LUSC-KR 17 56393297 56393297 single base substitution G A upstream_gene_variant LUSC-KR 17 56393714 56393714 single base substitution G A intron_variant LUSC-KR 17 56393714 56393714 single base substitution G A upstream_gene_variant LUSC-KR 17 56395683 56395683 single base substitution G A downstream_gene_variant LUSC-KR 17 56395683 56395683 single base substitution G A synonymous_variant S550S 1650C>T LUSC-KR 17 56395683 56395683 single base substitution G A synonymous_variant S610S 1830C>T LUSC-KR 17 56396609 56396609 single base substitution T C downstream_gene_variant LUSC-KR 17 56396609 56396609 single base substitution T C missense_variant Q454R 1361A>G LUSC-KR 17 56396609 56396609 single base substitution T C missense_variant Q514R 1541A>G LUSC-KR 17 56398006 56398006 single base substitution C G downstream_gene_variant LUSC-KR 17 56398006 56398006 single base substitution C G intron_variant LUSC-KR 17 56399835 56399835 single base substitution A G intron_variant LUSC-KR 17 56400617 56400617 single base substitution T C intron_variant LUSC-KR 17 56400617 56400617 single base substitution T C upstream_gene_variant LUSC-KR 17 56404934 56404934 single base substitution C A intron_variant LUSC-KR 17 56404934 56404934 single base substitution C A upstream_gene_variant LUSC-KR 17 56405024 56405024 single base substitution G A synonymous_variant S86S 258C>T LUSC-KR 17 56405024 56405024 single base substitution G A upstream_gene_variant LUSC-KR 17 56405749 56405749 single base substitution G T 5_prime_UTR_variant LUSC-KR 17 56405749 56405749 single base substitution G T upstream_gene_variant LUSC-KR 17 56406860 56406860 single base substitution G A upstream_gene_variant LUSC-KR 17 56410917 56410917 single base substitution C T upstream_gene_variant LUSC-US 17 56386399 56386399 single base substitution G C downstream_gene_variant LUSC-US 17 56386399 56386399 single base substitution G C intron_variant LUSC-US 17 56386399 56386399 single base substitution G C missense_variant P1352A 4054C>G LUSC-US 17 56386399 56386399 single base substitution G C missense_variant P1412A 4234C>G LUSC-US 17 56386399 56386399 single base substitution G C upstream_gene_variant LUSC-US 17 56387418 56387418 single base substitution C T downstream_gene_variant LUSC-US 17 56387418 56387418 single base substitution C T synonymous_variant E110E 330G>A LUSC-US 17 56387418 56387418 single base substitution C T synonymous_variant E1207E 3621G>A LUSC-US 17 56387418 56387418 single base substitution C T synonymous_variant E1267E 3801G>A LUSC-US 17 56387418 56387418 single base substitution C T upstream_gene_variant LUSC-US 17 56389036 56389036 single base substitution G A exon_variant LUSC-US 17 56389036 56389036 single base substitution G A missense_variant P933S 2797C>T LUSC-US 17 56389036 56389036 single base substitution G A missense_variant P993S 2977C>T LUSC-US 17 56389036 56389036 single base substitution G A upstream_gene_variant LUSC-US 17 56389406 56389406 single base substitution T C missense_variant S866G 2596A>G LUSC-US 17 56389406 56389406 single base substitution T C missense_variant S926G 2776A>G LUSC-US 17 56389406 56389406 single base substitution T C upstream_gene_variant LUSC-US 17 56393786 56393786 single base substitution C T missense_variant S603N 1808G>A LUSC-US 17 56393786 56393786 single base substitution C T missense_variant S663N 1988G>A LUSC-US 17 56393786 56393786 single base substitution C T upstream_gene_variant MALY-DE 17 56376870 56376870 single base substitution A G downstream_gene_variant MALY-DE 17 56381668 56381668 single base substitution C T downstream_gene_variant MALY-DE 17 56381668 56381668 single base substitution C T exon_variant MALY-DE 17 56381668 56381668 single base substitution C T intron_variant MALY-DE 17 56382334 56382334 single base substitution C T downstream_gene_variant MALY-DE 17 56382334 56382334 single base substitution C T exon_variant MALY-DE 17 56382334 56382334 single base substitution C T intron_variant MALY-DE 17 56399299 56399299 single base substitution C T downstream_gene_variant MALY-DE 17 56399299 56399299 single base substitution C T intron_variant MALY-DE 17 56401756 56401756 single base substitution T A intron_variant MALY-DE 17 56401756 56401756 single base substitution T A upstream_gene_variant MALY-DE 17 56403082 56403082 single base substitution G C intron_variant MALY-DE 17 56403082 56403082 single base substitution G C splice_region_variant MALY-DE 17 56403082 56403082 single base substitution G C upstream_gene_variant MALY-DE 17 56406529 56406532 deletion of <=200bp AAAG - upstream_gene_variant MALY-DE 17 56407015 56407015 single base substitution T C upstream_gene_variant MALY-DE 17 56407036 56407036 single base substitution C T upstream_gene_variant MALY-DE 17 56407289 56407289 insertion of <=200bp - T upstream_gene_variant MALY-DE 17 56407688 56407688 single base substitution G A upstream_gene_variant MALY-DE 17 56407689 56407689 single base substitution T C upstream_gene_variant MALY-DE 17 56408092 56408092 single base substitution C G upstream_gene_variant MALY-DE 17 56408154 56408154 single base substitution C G upstream_gene_variant MALY-DE 17 56408202 56408202 single base substitution G A upstream_gene_variant MALY-DE 17 56408450 56408450 single base substitution G A upstream_gene_variant MALY-DE 17 56408485 56408485 single base substitution C T upstream_gene_variant MALY-DE 17 56408583 56408583 single base substitution C G upstream_gene_variant MALY-DE 17 56408591 56408591 single base substitution C T upstream_gene_variant MALY-DE 17 56408592 56408592 single base substitution C T upstream_gene_variant MALY-DE 17 56408597 56408597 single base substitution G A upstream_gene_variant MALY-DE 17 56408612 56408612 single base substitution A T upstream_gene_variant MALY-DE 17 56408616 56408616 single base substitution A C upstream_gene_variant MALY-DE 17 56408620 56408620 single base substitution A G upstream_gene_variant MALY-DE 17 56408620 56408620 single base substitution A T upstream_gene_variant MALY-DE 17 56408621 56408621 single base substitution A G upstream_gene_variant MALY-DE 17 56408624 56408624 single base substitution C G upstream_gene_variant MALY-DE 17 56408624 56408624 single base substitution C T upstream_gene_variant MALY-DE 17 56408630 56408630 single base substitution C T upstream_gene_variant MALY-DE 17 56408639 56408639 single base substitution C G upstream_gene_variant MALY-DE 17 56408639 56408639 single base substitution C T upstream_gene_variant MALY-DE 17 56408647 56408647 single base substitution A C upstream_gene_variant MALY-DE 17 56408832 56408832 single base substitution G A upstream_gene_variant MALY-DE 17 56408859 56408859 single base substitution C T upstream_gene_variant MALY-DE 17 56408903 56408903 single base substitution A G upstream_gene_variant MALY-DE 17 56408918 56408918 single base substitution T G upstream_gene_variant MALY-DE 17 56408919 56408919 single base substitution C T upstream_gene_variant MALY-DE 17 56408927 56408927 single base substitution T C upstream_gene_variant MALY-DE 17 56408929 56408929 single base substitution T C upstream_gene_variant MALY-DE 17 56408950 56408950 single base substitution C T upstream_gene_variant MALY-DE 17 56408977 56408977 single base substitution G C upstream_gene_variant MALY-DE 17 56409001 56409001 single base substitution C G upstream_gene_variant MALY-DE 17 56409001 56409001 single base substitution C T upstream_gene_variant MALY-DE 17 56409004 56409004 single base substitution C G upstream_gene_variant MALY-DE 17 56409008 56409008 single base substitution C T upstream_gene_variant MALY-DE 17 56409012 56409012 single base substitution G A upstream_gene_variant MALY-DE 17 56409013 56409013 single base substitution C T upstream_gene_variant MALY-DE 17 56409017 56409017 single base substitution C T upstream_gene_variant MALY-DE 17 56409027 56409027 single base substitution G C upstream_gene_variant MALY-DE 17 56409028 56409028 single base substitution C T upstream_gene_variant MALY-DE 17 56409049 56409049 single base substitution G A upstream_gene_variant MALY-DE 17 56409050 56409050 single base substitution C G upstream_gene_variant MALY-DE 17 56409050 56409050 single base substitution C T upstream_gene_variant MALY-DE 17 56409055 56409055 single base substitution C G upstream_gene_variant MALY-DE 17 56409093 56409093 single base substitution G A upstream_gene_variant MALY-DE 17 56409097 56409097 single base substitution C T upstream_gene_variant MALY-DE 17 56409101 56409101 single base substitution C G upstream_gene_variant MALY-DE 17 56409179 56409179 single base substitution C G upstream_gene_variant MALY-DE 17 56409200 56409200 single base substitution C T upstream_gene_variant MALY-DE 17 56409239 56409239 single base substitution C T upstream_gene_variant MALY-DE 17 56409250 56409250 single base substitution G A upstream_gene_variant MALY-DE 17 56409285 56409285 single base substitution C T upstream_gene_variant MALY-DE 17 56409287 56409287 deletion of <=200bp G - upstream_gene_variant MALY-DE 17 56409287 56409287 single base substitution G A upstream_gene_variant MALY-DE 17 56409303 56409303 single base substitution C T upstream_gene_variant MALY-DE 17 56409317 56409317 single base substitution G C upstream_gene_variant MALY-DE 17 56409325 56409325 single base substitution C T upstream_gene_variant MALY-DE 17 56409332 56409332 single base substitution G A upstream_gene_variant MALY-DE 17 56409333 56409333 single base substitution C T upstream_gene_variant MALY-DE 17 56409335 56409335 single base substitution G A upstream_gene_variant MALY-DE 17 56409384 56409384 single base substitution C T upstream_gene_variant MALY-DE 17 56409407 56409407 single base substitution G A upstream_gene_variant MALY-DE 17 56409416 56409416 single base substitution C T upstream_gene_variant MALY-DE 17 56409429 56409429 single base substitution C T upstream_gene_variant MALY-DE 17 56409449 56409449 single base substitution C A upstream_gene_variant MALY-DE 17 56409457 56409457 single base substitution C T upstream_gene_variant MALY-DE 17 56409461 56409461 single base substitution G A upstream_gene_variant MALY-DE 17 56409462 56409462 single base substitution C T upstream_gene_variant MALY-DE 17 56409464 56409464 single base substitution G A upstream_gene_variant MALY-DE 17 56409467 56409467 single base substitution C T upstream_gene_variant MALY-DE 17 56409480 56409480 single base substitution C G upstream_gene_variant MALY-DE 17 56409480 56409480 single base substitution C T upstream_gene_variant MALY-DE 17 56409486 56409486 single base substitution G A upstream_gene_variant MALY-DE 17 56409486 56409492 deletion of <=200bp GCTATCC - upstream_gene_variant MALY-DE 17 56409487 56409487 single base substitution C G upstream_gene_variant MALY-DE 17 56409487 56409487 single base substitution C T upstream_gene_variant MALY-DE 17 56409492 56409492 single base substitution C T upstream_gene_variant MALY-DE 17 56409493 56409493 single base substitution C A upstream_gene_variant MALY-DE 17 56409496 56409496 single base substitution C T upstream_gene_variant MALY-DE 17 56409503 56409503 single base substitution G A upstream_gene_variant MALY-DE 17 56409504 56409504 single base substitution G A upstream_gene_variant MALY-DE 17 56409512 56409512 single base substitution G A upstream_gene_variant MALY-DE 17 56409522 56409522 single base substitution G A upstream_gene_variant MALY-DE 17 56409524 56409524 single base substitution A G upstream_gene_variant MALY-DE 17 56409530 56409530 single base substitution C T upstream_gene_variant MALY-DE 17 56409544 56409544 single base substitution G C upstream_gene_variant MALY-DE 17 56409544 56409544 single base substitution G T upstream_gene_variant MALY-DE 17 56409560 56409560 single base substitution C A upstream_gene_variant MALY-DE 17 56409564 56409564 single base substitution G A upstream_gene_variant MALY-DE 17 56409570 56409570 single base substitution G A upstream_gene_variant MALY-DE 17 56409571 56409571 single base substitution C T upstream_gene_variant MALY-DE 17 56409575 56409575 single base substitution C G upstream_gene_variant MALY-DE 17 56409575 56409575 single base substitution C T upstream_gene_variant MALY-DE 17 56409582 56409582 single base substitution C T upstream_gene_variant MALY-DE 17 56409596 56409596 single base substitution C T upstream_gene_variant MALY-DE 17 56409597 56409597 single base substitution T C upstream_gene_variant MALY-DE 17 56409604 56409604 single base substitution C T upstream_gene_variant MALY-DE 17 56409631 56409631 single base substitution G A upstream_gene_variant MALY-DE 17 56409632 56409632 single base substitution C T upstream_gene_variant MALY-DE 17 56409633 56409633 single base substitution C T upstream_gene_variant MALY-DE 17 56409640 56409640 single base substitution C T upstream_gene_variant MALY-DE 17 56409641 56409641 single base substitution C T upstream_gene_variant MALY-DE 17 56409646 56409646 single base substitution G A upstream_gene_variant MALY-DE 17 56409647 56409647 single base substitution C A upstream_gene_variant MALY-DE 17 56409647 56409647 single base substitution C T upstream_gene_variant MALY-DE 17 56409655 56409655 single base substitution C A upstream_gene_variant MALY-DE 17 56409655 56409655 single base substitution C T upstream_gene_variant MALY-DE 17 56409656 56409656 single base substitution C A upstream_gene_variant MALY-DE 17 56409656 56409656 single base substitution C T upstream_gene_variant MALY-DE 17 56409665 56409665 single base substitution C G upstream_gene_variant MALY-DE 17 56409673 56409673 single base substitution G C upstream_gene_variant MALY-DE 17 56409674 56409674 single base substitution G A upstream_gene_variant MALY-DE 17 56409690 56409690 single base substitution C T upstream_gene_variant MALY-DE 17 56409693 56409693 single base substitution T A upstream_gene_variant MALY-DE 17 56409697 56409697 single base substitution C G upstream_gene_variant MALY-DE 17 56409697 56409697 single base substitution C T upstream_gene_variant MALY-DE 17 56409703 56409703 single base substitution G A upstream_gene_variant MALY-DE 17 56409714 56409714 single base substitution G A upstream_gene_variant MALY-DE 17 56409750 56409750 single base substitution C T upstream_gene_variant MALY-DE 17 56409751 56409751 single base substitution C G upstream_gene_variant MALY-DE 17 56409751 56409751 single base substitution C T upstream_gene_variant MALY-DE 17 56409786 56409786 single base substitution C G upstream_gene_variant MALY-DE 17 56409808 56409808 single base substitution G A upstream_gene_variant MALY-DE 17 56409852 56409852 single base substitution G A upstream_gene_variant MALY-DE 17 56409879 56409879 single base substitution A G upstream_gene_variant MALY-DE 17 56409882 56409882 single base substitution G A upstream_gene_variant MALY-DE 17 56410431 56410431 single base substitution G A upstream_gene_variant MELA-AU 17 56374011 56374011 single base substitution C T downstream_gene_variant MELA-AU 17 56374339 56374339 single base substitution G A downstream_gene_variant MELA-AU 17 56374534 56374534 single base substitution G A downstream_gene_variant MELA-AU 17 56374653 56374653 single base substitution G A downstream_gene_variant MELA-AU 17 56374861 56374861 single base substitution C T downstream_gene_variant MELA-AU 17 56375124 56375125 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 56375274 56375274 single base substitution G A downstream_gene_variant MELA-AU 17 56375569 56375569 single base substitution G A downstream_gene_variant MELA-AU 17 56375626 56375626 single base substitution G A downstream_gene_variant MELA-AU 17 56375658 56375658 single base substitution C T downstream_gene_variant MELA-AU 17 56375707 56375707 single base substitution C T downstream_gene_variant MELA-AU 17 56375794 56375794 single base substitution G A downstream_gene_variant MELA-AU 17 56375796 56375797 multiple base substitution (>=2bp and <=200bp) AC CT downstream_gene_variant MELA-AU 17 56375888 56375888 single base substitution C T downstream_gene_variant MELA-AU 17 56375976 56375976 single base substitution G A downstream_gene_variant MELA-AU 17 56376058 56376058 single base substitution C T downstream_gene_variant MELA-AU 17 56376284 56376284 single base substitution G A downstream_gene_variant MELA-AU 17 56376417 56376417 single base substitution C T downstream_gene_variant MELA-AU 17 56376468 56376468 single base substitution C T downstream_gene_variant MELA-AU 17 56376510 56376510 single base substitution G A downstream_gene_variant MELA-AU 17 56376785 56376785 single base substitution C T downstream_gene_variant MELA-AU 17 56376872 56376872 single base substitution C T downstream_gene_variant MELA-AU 17 56376950 56376950 single base substitution C T downstream_gene_variant MELA-AU 17 56376960 56376960 single base substitution A T downstream_gene_variant MELA-AU 17 56377031 56377031 single base substitution G A downstream_gene_variant MELA-AU 17 56377067 56377067 single base substitution A G downstream_gene_variant MELA-AU 17 56377070 56377070 single base substitution G A downstream_gene_variant MELA-AU 17 56377310 56377310 single base substitution G A downstream_gene_variant MELA-AU 17 56377760 56377760 single base substitution G A downstream_gene_variant MELA-AU 17 56377782 56377782 single base substitution G A downstream_gene_variant MELA-AU 17 56377845 56377845 single base substitution G A downstream_gene_variant MELA-AU 17 56378010 56378010 single base substitution G A downstream_gene_variant MELA-AU 17 56378088 56378088 single base substitution C A downstream_gene_variant MELA-AU 17 56378171 56378171 single base substitution C T downstream_gene_variant MELA-AU 17 56378350 56378350 single base substitution C T downstream_gene_variant MELA-AU 17 56378575 56378575 single base substitution G A downstream_gene_variant MELA-AU 17 56378590 56378590 single base substitution G A downstream_gene_variant MELA-AU 17 56378731 56378731 single base substitution A G 3_prime_UTR_variant MELA-AU 17 56378731 56378731 single base substitution A G downstream_gene_variant MELA-AU 17 56378731 56378731 single base substitution A G exon_variant MELA-AU 17 56378814 56378814 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56378814 56378814 single base substitution G A downstream_gene_variant MELA-AU 17 56378814 56378814 single base substitution G A exon_variant MELA-AU 17 56378919 56378919 single base substitution A T 3_prime_UTR_variant MELA-AU 17 56378919 56378919 single base substitution A T downstream_gene_variant MELA-AU 17 56378919 56378919 single base substitution A T exon_variant MELA-AU 17 56378963 56378963 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56378963 56378963 single base substitution G A downstream_gene_variant MELA-AU 17 56378963 56378963 single base substitution G A exon_variant MELA-AU 17 56379002 56379002 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56379002 56379002 single base substitution G A downstream_gene_variant MELA-AU 17 56379002 56379002 single base substitution G A exon_variant MELA-AU 17 56379061 56379061 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56379061 56379061 single base substitution G A downstream_gene_variant MELA-AU 17 56379061 56379061 single base substitution G A exon_variant MELA-AU 17 56379626 56379626 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56379626 56379626 single base substitution G A downstream_gene_variant MELA-AU 17 56379626 56379626 single base substitution G A exon_variant MELA-AU 17 56379635 56379635 single base substitution C T 3_prime_UTR_variant MELA-AU 17 56379635 56379635 single base substitution C T downstream_gene_variant MELA-AU 17 56379635 56379635 single base substitution C T exon_variant MELA-AU 17 56379635 56379635 single base substitution C T synonymous_variant K170K 510G>A MELA-AU 17 56379635 56379635 single base substitution C T synonymous_variant K1906K 5718G>A MELA-AU 17 56379682 56379682 single base substitution A G 3_prime_UTR_variant MELA-AU 17 56379682 56379682 single base substitution A G downstream_gene_variant MELA-AU 17 56379682 56379682 single base substitution A G exon_variant MELA-AU 17 56379682 56379682 single base substitution A G missense_variant F155L 463T>C MELA-AU 17 56379682 56379682 single base substitution A G missense_variant F1891L 5671T>C MELA-AU 17 56379688 56379688 single base substitution C T 3_prime_UTR_variant MELA-AU 17 56379688 56379688 single base substitution C T downstream_gene_variant MELA-AU 17 56379688 56379688 single base substitution C T exon_variant MELA-AU 17 56379688 56379688 single base substitution C T missense_variant G153S 457G>A MELA-AU 17 56379688 56379688 single base substitution C T missense_variant G1889S 5665G>A MELA-AU 17 56379834 56379834 single base substitution G A downstream_gene_variant MELA-AU 17 56379834 56379834 single base substitution G A exon_variant MELA-AU 17 56379834 56379834 single base substitution G A intron_variant MELA-AU 17 56380019 56380019 single base substitution G A downstream_gene_variant MELA-AU 17 56380019 56380019 single base substitution G A exon_variant MELA-AU 17 56380019 56380019 single base substitution G A intron_variant MELA-AU 17 56380096 56380096 single base substitution G A downstream_gene_variant MELA-AU 17 56380096 56380096 single base substitution G A exon_variant MELA-AU 17 56380096 56380096 single base substitution G A intron_variant MELA-AU 17 56380127 56380127 single base substitution G A downstream_gene_variant MELA-AU 17 56380127 56380127 single base substitution G A exon_variant MELA-AU 17 56380127 56380127 single base substitution G A intron_variant MELA-AU 17 56380341 56380341 single base substitution G A downstream_gene_variant MELA-AU 17 56380341 56380341 single base substitution G A exon_variant MELA-AU 17 56380341 56380341 single base substitution G A intron_variant MELA-AU 17 56380342 56380342 single base substitution G A downstream_gene_variant MELA-AU 17 56380342 56380342 single base substitution G A exon_variant MELA-AU 17 56380342 56380342 single base substitution G A intron_variant MELA-AU 17 56380354 56380354 single base substitution G A downstream_gene_variant MELA-AU 17 56380354 56380354 single base substitution G A exon_variant MELA-AU 17 56380354 56380354 single base substitution G A intron_variant MELA-AU 17 56380420 56380421 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 56380420 56380421 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 56380420 56380421 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 56380713 56380713 single base substitution C T downstream_gene_variant MELA-AU 17 56380713 56380713 single base substitution C T exon_variant MELA-AU 17 56380713 56380713 single base substitution C T intron_variant MELA-AU 17 56381007 56381007 single base substitution C T downstream_gene_variant MELA-AU 17 56381007 56381007 single base substitution C T exon_variant MELA-AU 17 56381007 56381007 single base substitution C T intron_variant MELA-AU 17 56381057 56381057 single base substitution G A downstream_gene_variant MELA-AU 17 56381057 56381057 single base substitution G A exon_variant MELA-AU 17 56381057 56381057 single base substitution G A intron_variant MELA-AU 17 56381680 56381680 single base substitution G A downstream_gene_variant MELA-AU 17 56381680 56381680 single base substitution G A exon_variant MELA-AU 17 56381680 56381680 single base substitution G A intron_variant MELA-AU 17 56381827 56381827 single base substitution C T downstream_gene_variant MELA-AU 17 56381827 56381827 single base substitution C T exon_variant MELA-AU 17 56381827 56381827 single base substitution C T intron_variant MELA-AU 17 56381884 56381884 single base substitution G A downstream_gene_variant MELA-AU 17 56381884 56381884 single base substitution G A exon_variant MELA-AU 17 56381884 56381884 single base substitution G A intron_variant MELA-AU 17 56382046 56382047 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 56382046 56382047 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 56382046 56382047 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 56382095 56382095 single base substitution G A downstream_gene_variant MELA-AU 17 56382095 56382095 single base substitution G A exon_variant MELA-AU 17 56382095 56382095 single base substitution G A intron_variant MELA-AU 17 56382169 56382169 single base substitution G A downstream_gene_variant MELA-AU 17 56382169 56382169 single base substitution G A exon_variant MELA-AU 17 56382169 56382169 single base substitution G A intron_variant MELA-AU 17 56382501 56382501 single base substitution G A downstream_gene_variant MELA-AU 17 56382501 56382501 single base substitution G A exon_variant MELA-AU 17 56382501 56382501 single base substitution G A missense_variant P1762L 5285C>T MELA-AU 17 56382501 56382501 single base substitution G A missense_variant P1822L 5465C>T MELA-AU 17 56382501 56382501 single base substitution G A missense_variant P243L 728C>T MELA-AU 17 56382501 56382501 single base substitution G A missense_variant P86L 257C>T MELA-AU 17 56382639 56382639 single base substitution G A downstream_gene_variant MELA-AU 17 56382639 56382639 single base substitution G A exon_variant MELA-AU 17 56382639 56382639 single base substitution G A intron_variant MELA-AU 17 56382692 56382692 single base substitution C T downstream_gene_variant MELA-AU 17 56382692 56382692 single base substitution C T exon_variant MELA-AU 17 56382692 56382692 single base substitution C T intron_variant MELA-AU 17 56382717 56382717 single base substitution T A downstream_gene_variant MELA-AU 17 56382717 56382717 single base substitution T A exon_variant MELA-AU 17 56382717 56382717 single base substitution T A intron_variant MELA-AU 17 56382928 56382928 single base substitution C T downstream_gene_variant MELA-AU 17 56382928 56382928 single base substitution C T exon_variant MELA-AU 17 56382928 56382928 single base substitution C T synonymous_variant Q1718Q 5154G>A MELA-AU 17 56382928 56382928 single base substitution C T synonymous_variant Q1778Q 5334G>A MELA-AU 17 56382928 56382928 single base substitution C T synonymous_variant Q199Q 597G>A MELA-AU 17 56382928 56382928 single base substitution C T synonymous_variant Q42Q 126G>A MELA-AU 17 56382928 56382928 single base substitution C T upstream_gene_variant MELA-AU 17 56383422 56383422 single base substitution G A downstream_gene_variant MELA-AU 17 56383422 56383422 single base substitution G A intron_variant MELA-AU 17 56383422 56383422 single base substitution G A upstream_gene_variant MELA-AU 17 56383710 56383710 single base substitution G A downstream_gene_variant MELA-AU 17 56383710 56383710 single base substitution G A exon_variant MELA-AU 17 56383710 56383710 single base substitution G A synonymous_variant S160S 480C>T MELA-AU 17 56383710 56383710 single base substitution G A synonymous_variant S1679S 5037C>T MELA-AU 17 56383710 56383710 single base substitution G A synonymous_variant S1739S 5217C>T MELA-AU 17 56383710 56383710 single base substitution G A synonymous_variant S293S 879C>T MELA-AU 17 56383710 56383710 single base substitution G A synonymous_variant S3S 9C>T MELA-AU 17 56383710 56383710 single base substitution G A upstream_gene_variant MELA-AU 17 56383942 56383942 single base substitution C T downstream_gene_variant MELA-AU 17 56383942 56383942 single base substitution C T exon_variant MELA-AU 17 56383942 56383942 single base substitution C T intron_variant MELA-AU 17 56383942 56383942 single base substitution C T upstream_gene_variant MELA-AU 17 56384290 56384290 single base substitution C T downstream_gene_variant MELA-AU 17 56384290 56384290 single base substitution C T missense_variant E105K 313G>A MELA-AU 17 56384290 56384290 single base substitution C T missense_variant E1615K 4843G>A MELA-AU 17 56384290 56384290 single base substitution C T missense_variant E1675K 5023G>A MELA-AU 17 56384290 56384290 single base substitution C T missense_variant E238K 712G>A MELA-AU 17 56384290 56384290 single base substitution C T upstream_gene_variant MELA-AU 17 56384293 56384293 single base substitution C T downstream_gene_variant MELA-AU 17 56384293 56384293 single base substitution C T missense_variant G104S 310G>A MELA-AU 17 56384293 56384293 single base substitution C T missense_variant G1614S 4840G>A MELA-AU 17 56384293 56384293 single base substitution C T missense_variant G1674S 5020G>A MELA-AU 17 56384293 56384293 single base substitution C T missense_variant G237S 709G>A MELA-AU 17 56384293 56384293 single base substitution C T upstream_gene_variant MELA-AU 17 56384584 56384584 single base substitution G A downstream_gene_variant MELA-AU 17 56384584 56384584 single base substitution G A intron_variant MELA-AU 17 56384584 56384584 single base substitution G A upstream_gene_variant MELA-AU 17 56384769 56384769 single base substitution G A downstream_gene_variant MELA-AU 17 56384769 56384769 single base substitution G A intron_variant MELA-AU 17 56384769 56384769 single base substitution G A upstream_gene_variant MELA-AU 17 56385022 56385022 single base substitution G A downstream_gene_variant MELA-AU 17 56385022 56385022 single base substitution G A exon_variant MELA-AU 17 56385022 56385022 single base substitution G A missense_variant P1585S 4753C>T MELA-AU 17 56385022 56385022 single base substitution G A missense_variant P1645S 4933C>T MELA-AU 17 56385022 56385022 single base substitution G A missense_variant P208S 622C>T MELA-AU 17 56385022 56385022 single base substitution G A missense_variant P75S 223C>T MELA-AU 17 56385022 56385022 single base substitution G A upstream_gene_variant MELA-AU 17 56385040 56385040 single base substitution C G downstream_gene_variant MELA-AU 17 56385040 56385040 single base substitution C G exon_variant MELA-AU 17 56385040 56385040 single base substitution C G missense_variant V1579L 4735G>C MELA-AU 17 56385040 56385040 single base substitution C G missense_variant V1639L 4915G>C MELA-AU 17 56385040 56385040 single base substitution C G missense_variant V202L 604G>C MELA-AU 17 56385040 56385040 single base substitution C G missense_variant V69L 205G>C MELA-AU 17 56385040 56385040 single base substitution C G upstream_gene_variant MELA-AU 17 56385168 56385168 single base substitution G A downstream_gene_variant MELA-AU 17 56385168 56385168 single base substitution G A intron_variant MELA-AU 17 56385168 56385168 single base substitution G A upstream_gene_variant MELA-AU 17 56385254 56385254 single base substitution C T downstream_gene_variant MELA-AU 17 56385254 56385254 single base substitution C T exon_variant MELA-AU 17 56385254 56385254 single base substitution C T missense_variant G1534S 4600G>A MELA-AU 17 56385254 56385254 single base substitution C T missense_variant G157S 469G>A MELA-AU 17 56385254 56385254 single base substitution C T missense_variant G1594S 4780G>A MELA-AU 17 56385254 56385254 single base substitution C T missense_variant G24S 70G>A MELA-AU 17 56385254 56385254 single base substitution C T upstream_gene_variant MELA-AU 17 56385477 56385477 single base substitution G A downstream_gene_variant MELA-AU 17 56385477 56385477 single base substitution G A intron_variant MELA-AU 17 56385477 56385477 single base substitution G A upstream_gene_variant MELA-AU 17 56385489 56385489 single base substitution G A downstream_gene_variant MELA-AU 17 56385489 56385489 single base substitution G A intron_variant MELA-AU 17 56385489 56385489 single base substitution G A upstream_gene_variant MELA-AU 17 56385502 56385502 single base substitution C T downstream_gene_variant MELA-AU 17 56385502 56385502 single base substitution C T intron_variant MELA-AU 17 56385502 56385502 single base substitution C T upstream_gene_variant MELA-AU 17 56386047 56386047 single base substitution C T downstream_gene_variant MELA-AU 17 56386047 56386047 single base substitution C T intron_variant MELA-AU 17 56386047 56386047 single base substitution C T missense_variant G1469D 4406G>A MELA-AU 17 56386047 56386047 single base substitution C T missense_variant G1529D 4586G>A MELA-AU 17 56386047 56386047 single base substitution C T upstream_gene_variant MELA-AU 17 56386193 56386193 single base substitution C G downstream_gene_variant MELA-AU 17 56386193 56386193 single base substitution C G intron_variant MELA-AU 17 56386193 56386193 single base substitution C G synonymous_variant R1420R 4260G>C MELA-AU 17 56386193 56386193 single base substitution C G synonymous_variant R1480R 4440G>C MELA-AU 17 56386193 56386193 single base substitution C G upstream_gene_variant MELA-AU 17 56386215 56386215 single base substitution G A downstream_gene_variant MELA-AU 17 56386215 56386215 single base substitution G A intron_variant MELA-AU 17 56386215 56386215 single base substitution G A missense_variant S1413F 4238C>T MELA-AU 17 56386215 56386215 single base substitution G A missense_variant S1473F 4418C>T MELA-AU 17 56386215 56386215 single base substitution G A upstream_gene_variant MELA-AU 17 56386833 56386833 single base substitution G A downstream_gene_variant MELA-AU 17 56386833 56386833 single base substitution G A intron_variant MELA-AU 17 56386833 56386833 single base substitution G A upstream_gene_variant MELA-AU 17 56386854 56386854 single base substitution C T downstream_gene_variant MELA-AU 17 56386854 56386854 single base substitution C T intron_variant MELA-AU 17 56386854 56386854 single base substitution C T upstream_gene_variant MELA-AU 17 56387068 56387068 single base substitution G A downstream_gene_variant MELA-AU 17 56387068 56387068 single base substitution G A intron_variant MELA-AU 17 56387068 56387068 single base substitution G A upstream_gene_variant MELA-AU 17 56387126 56387126 single base substitution G A downstream_gene_variant MELA-AU 17 56387126 56387126 single base substitution G A intron_variant MELA-AU 17 56387126 56387126 single base substitution G A upstream_gene_variant MELA-AU 17 56387170 56387170 single base substitution T A downstream_gene_variant MELA-AU 17 56387170 56387170 single base substitution T A intron_variant MELA-AU 17 56387170 56387170 single base substitution T A upstream_gene_variant MELA-AU 17 56387343 56387343 single base substitution C T downstream_gene_variant MELA-AU 17 56387343 56387343 single base substitution C T synonymous_variant R1232R 3696G>A MELA-AU 17 56387343 56387343 single base substitution C T synonymous_variant R1292R 3876G>A MELA-AU 17 56387343 56387343 single base substitution C T synonymous_variant R135R 405G>A MELA-AU 17 56387343 56387343 single base substitution C T upstream_gene_variant MELA-AU 17 56387614 56387614 single base substitution C T downstream_gene_variant MELA-AU 17 56387614 56387614 single base substitution C T intron_variant MELA-AU 17 56387614 56387614 single base substitution C T upstream_gene_variant MELA-AU 17 56387960 56387960 single base substitution G C downstream_gene_variant MELA-AU 17 56387960 56387960 single base substitution G C synonymous_variant S1144S 3432C>G MELA-AU 17 56387960 56387960 single base substitution G C synonymous_variant S1204S 3612C>G MELA-AU 17 56387960 56387960 single base substitution G C synonymous_variant S47S 141C>G MELA-AU 17 56387960 56387960 single base substitution G C upstream_gene_variant MELA-AU 17 56387974 56387974 single base substitution G A downstream_gene_variant MELA-AU 17 56387974 56387974 single base substitution G A missense_variant P1140S 3418C>T MELA-AU 17 56387974 56387974 single base substitution G A missense_variant P1200S 3598C>T MELA-AU 17 56387974 56387974 single base substitution G A missense_variant P43S 127C>T MELA-AU 17 56387974 56387974 single base substitution G A upstream_gene_variant MELA-AU 17 56388193 56388193 single base substitution G A downstream_gene_variant MELA-AU 17 56388193 56388193 single base substitution G A splice_region_variant MELA-AU 17 56388193 56388193 single base substitution G A upstream_gene_variant MELA-AU 17 56388262 56388262 single base substitution G A downstream_gene_variant MELA-AU 17 56388262 56388262 single base substitution G A missense_variant P1072S 3214C>T MELA-AU 17 56388262 56388262 single base substitution G A missense_variant P1132S 3394C>T MELA-AU 17 56388262 56388262 single base substitution G A upstream_gene_variant MELA-AU 17 56388294 56388294 single base substitution G A downstream_gene_variant MELA-AU 17 56388294 56388294 single base substitution G A missense_variant P1061L 3182C>T MELA-AU 17 56388294 56388294 single base substitution G A missense_variant P1121L 3362C>T MELA-AU 17 56388294 56388294 single base substitution G A upstream_gene_variant MELA-AU 17 56388352 56388352 single base substitution G A downstream_gene_variant MELA-AU 17 56388352 56388352 single base substitution G A missense_variant L1042F 3124C>T MELA-AU 17 56388352 56388352 single base substitution G A missense_variant L1102F 3304C>T MELA-AU 17 56388352 56388352 single base substitution G A upstream_gene_variant MELA-AU 17 56388439 56388439 single base substitution G T downstream_gene_variant MELA-AU 17 56388439 56388439 single base substitution G T missense_variant P1013T 3037C>A MELA-AU 17 56388439 56388439 single base substitution G T missense_variant P1073T 3217C>A MELA-AU 17 56388439 56388439 single base substitution G T upstream_gene_variant MELA-AU 17 56388443 56388443 single base substitution C T downstream_gene_variant MELA-AU 17 56388443 56388443 single base substitution C T synonymous_variant P1011P 3033G>A MELA-AU 17 56388443 56388443 single base substitution C T synonymous_variant P1071P 3213G>A MELA-AU 17 56388443 56388443 single base substitution C T upstream_gene_variant MELA-AU 17 56388459 56388459 single base substitution G A downstream_gene_variant MELA-AU 17 56388459 56388459 single base substitution G A missense_variant S1006L 3017C>T MELA-AU 17 56388459 56388459 single base substitution G A missense_variant S1066L 3197C>T MELA-AU 17 56388459 56388459 single base substitution G A upstream_gene_variant MELA-AU 17 56388572 56388572 single base substitution G A downstream_gene_variant MELA-AU 17 56388572 56388572 single base substitution G A splice_region_variant MELA-AU 17 56388572 56388572 single base substitution G A upstream_gene_variant MELA-AU 17 56388679 56388679 single base substitution A C downstream_gene_variant MELA-AU 17 56388679 56388679 single base substitution A C intron_variant MELA-AU 17 56388679 56388679 single base substitution A C upstream_gene_variant MELA-AU 17 56388835 56388835 single base substitution G T exon_variant MELA-AU 17 56388835 56388835 single base substitution G T intron_variant MELA-AU 17 56388835 56388835 single base substitution G T upstream_gene_variant MELA-AU 17 56388891 56388891 single base substitution G A exon_variant MELA-AU 17 56388891 56388891 single base substitution G A intron_variant MELA-AU 17 56388891 56388891 single base substitution G A upstream_gene_variant MELA-AU 17 56389032 56389032 single base substitution C T exon_variant MELA-AU 17 56389032 56389032 single base substitution C T missense_variant G934E 2801G>A MELA-AU 17 56389032 56389032 single base substitution C T missense_variant G994E 2981G>A MELA-AU 17 56389032 56389032 single base substitution C T upstream_gene_variant MELA-AU 17 56389052 56389052 single base substitution G A exon_variant MELA-AU 17 56389052 56389052 single base substitution G A synonymous_variant I927I 2781C>T MELA-AU 17 56389052 56389052 single base substitution G A synonymous_variant I987I 2961C>T MELA-AU 17 56389052 56389052 single base substitution G A upstream_gene_variant MELA-AU 17 56389081 56389081 single base substitution G A missense_variant P918S 2752C>T MELA-AU 17 56389081 56389081 single base substitution G A missense_variant P978S 2932C>T MELA-AU 17 56389081 56389081 single base substitution G A splice_region_variant MELA-AU 17 56389081 56389081 single base substitution G A upstream_gene_variant MELA-AU 17 56389215 56389215 single base substitution C T intron_variant MELA-AU 17 56389215 56389215 single base substitution C T upstream_gene_variant MELA-AU 17 56389338 56389338 single base substitution C T exon_variant MELA-AU 17 56389338 56389338 single base substitution C T synonymous_variant Q888Q 2664G>A MELA-AU 17 56389338 56389338 single base substitution C T synonymous_variant Q948Q 2844G>A MELA-AU 17 56389338 56389338 single base substitution C T upstream_gene_variant MELA-AU 17 56389996 56389996 single base substitution G A missense_variant P669L 2006C>T MELA-AU 17 56389996 56389996 single base substitution G A missense_variant P729L 2186C>T MELA-AU 17 56389996 56389996 single base substitution G A upstream_gene_variant MELA-AU 17 56390518 56390518 single base substitution T C intron_variant MELA-AU 17 56390518 56390518 single base substitution T C upstream_gene_variant MELA-AU 17 56391172 56391172 single base substitution G A intron_variant MELA-AU 17 56391172 56391172 single base substitution G A upstream_gene_variant MELA-AU 17 56391183 56391183 single base substitution C T intron_variant MELA-AU 17 56391183 56391183 single base substitution C T upstream_gene_variant MELA-AU 17 56392304 56392304 single base substitution T G intron_variant MELA-AU 17 56392304 56392304 single base substitution T G upstream_gene_variant MELA-AU 17 56392391 56392391 single base substitution C T intron_variant MELA-AU 17 56392391 56392391 single base substitution C T upstream_gene_variant MELA-AU 17 56393253 56393253 single base substitution G A intron_variant MELA-AU 17 56393253 56393253 single base substitution G A upstream_gene_variant MELA-AU 17 56393253 56393253 single base substitution G T intron_variant MELA-AU 17 56393253 56393253 single base substitution G T upstream_gene_variant MELA-AU 17 56393297 56393297 single base substitution G A intron_variant MELA-AU 17 56393297 56393297 single base substitution G A upstream_gene_variant MELA-AU 17 56393446 56393447 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P619L 1855CC>TT MELA-AU 17 56393446 56393447 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P679L 2035CC>TT MELA-AU 17 56393446 56393447 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 56393477 56393477 single base substitution C T missense_variant G609S 1825G>A MELA-AU 17 56393477 56393477 single base substitution C T missense_variant G669S 2005G>A MELA-AU 17 56393477 56393477 single base substitution C T upstream_gene_variant MELA-AU 17 56393848 56393848 single base substitution G A synonymous_variant L582L 1746C>T MELA-AU 17 56393848 56393848 single base substitution G A synonymous_variant L642L 1926C>T MELA-AU 17 56393848 56393848 single base substitution G A upstream_gene_variant MELA-AU 17 56394209 56394210 multiple base substitution (>=2bp and <=200bp) GC AA intron_variant MELA-AU 17 56394209 56394210 multiple base substitution (>=2bp and <=200bp) GC AA upstream_gene_variant MELA-AU 17 56394480 56394480 single base substitution C T downstream_gene_variant MELA-AU 17 56394480 56394480 single base substitution C T intron_variant MELA-AU 17 56394777 56394777 single base substitution G A downstream_gene_variant MELA-AU 17 56394777 56394777 single base substitution G A intron_variant MELA-AU 17 56395489 56395489 single base substitution C T downstream_gene_variant MELA-AU 17 56395489 56395489 single base substitution C T intron_variant MELA-AU 17 56396132 56396132 single base substitution C T downstream_gene_variant MELA-AU 17 56396132 56396132 single base substitution C T intron_variant MELA-AU 17 56396321 56396321 single base substitution G A downstream_gene_variant MELA-AU 17 56396321 56396321 single base substitution G A intron_variant MELA-AU 17 56396415 56396415 single base substitution G A downstream_gene_variant MELA-AU 17 56396415 56396415 single base substitution G A intron_variant MELA-AU 17 56397340 56397340 single base substitution G A downstream_gene_variant MELA-AU 17 56397340 56397340 single base substitution G A intron_variant MELA-AU 17 56397460 56397460 single base substitution G A downstream_gene_variant MELA-AU 17 56397460 56397460 single base substitution G A intron_variant MELA-AU 17 56397674 56397674 single base substitution G A downstream_gene_variant MELA-AU 17 56397674 56397674 single base substitution G A intron_variant MELA-AU 17 56397735 56397735 single base substitution G A downstream_gene_variant MELA-AU 17 56397735 56397735 single base substitution G A intron_variant MELA-AU 17 56397870 56397870 single base substitution G A downstream_gene_variant MELA-AU 17 56397870 56397870 single base substitution G A intron_variant MELA-AU 17 56397871 56397871 single base substitution G A downstream_gene_variant MELA-AU 17 56397871 56397871 single base substitution G A intron_variant MELA-AU 17 56398022 56398022 single base substitution G C downstream_gene_variant MELA-AU 17 56398022 56398022 single base substitution G C intron_variant MELA-AU 17 56398024 56398024 single base substitution A G downstream_gene_variant MELA-AU 17 56398024 56398024 single base substitution A G intron_variant MELA-AU 17 56398041 56398041 single base substitution G A downstream_gene_variant MELA-AU 17 56398041 56398041 single base substitution G A intron_variant MELA-AU 17 56398682 56398682 single base substitution G A downstream_gene_variant MELA-AU 17 56398682 56398682 single base substitution G A intron_variant MELA-AU 17 56398722 56398722 single base substitution G A downstream_gene_variant MELA-AU 17 56398722 56398722 single base substitution G A intron_variant MELA-AU 17 56398914 56398914 single base substitution C T downstream_gene_variant MELA-AU 17 56398914 56398914 single base substitution C T intron_variant MELA-AU 17 56400053 56400053 single base substitution G A exon_variant MELA-AU 17 56400053 56400053 single base substitution G A synonymous_variant L367L 1099C>T MELA-AU 17 56400053 56400053 single base substitution G A synonymous_variant L427L 1279C>T MELA-AU 17 56400203 56400203 single base substitution G A intron_variant MELA-AU 17 56400203 56400203 single base substitution G A upstream_gene_variant MELA-AU 17 56401017 56401017 single base substitution G A intron_variant MELA-AU 17 56401017 56401017 single base substitution G A upstream_gene_variant MELA-AU 17 56401731 56401731 single base substitution G A intron_variant MELA-AU 17 56401731 56401731 single base substitution G A upstream_gene_variant MELA-AU 17 56402026 56402027 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 56402026 56402027 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 56403437 56403437 single base substitution C T intron_variant MELA-AU 17 56403437 56403437 single base substitution C T upstream_gene_variant MELA-AU 17 56403475 56403475 single base substitution C T intron_variant MELA-AU 17 56403475 56403475 single base substitution C T upstream_gene_variant MELA-AU 17 56404335 56404335 single base substitution C T intron_variant MELA-AU 17 56404335 56404335 single base substitution C T upstream_gene_variant MELA-AU 17 56404369 56404369 single base substitution C T intron_variant MELA-AU 17 56404369 56404369 single base substitution C T upstream_gene_variant MELA-AU 17 56404389 56404389 single base substitution C T intron_variant MELA-AU 17 56404389 56404389 single base substitution C T upstream_gene_variant MELA-AU 17 56404554 56404554 single base substitution C T intron_variant MELA-AU 17 56404554 56404554 single base substitution C T upstream_gene_variant MELA-AU 17 56405037 56405037 single base substitution G A missense_variant A82V 245C>T MELA-AU 17 56405037 56405037 single base substitution G A upstream_gene_variant MELA-AU 17 56405373 56405373 single base substitution C T 5_prime_UTR_variant MELA-AU 17 56405483 56405483 single base substitution G A 5_prime_UTR_variant MELA-AU 17 56405483 56405483 single base substitution G A upstream_gene_variant MELA-AU 17 56405628 56405628 single base substitution C T 5_prime_UTR_variant MELA-AU 17 56405628 56405628 single base substitution C T upstream_gene_variant MELA-AU 17 56405994 56405994 single base substitution C T 5_prime_UTR_variant MELA-AU 17 56405994 56405994 single base substitution C T upstream_gene_variant MELA-AU 17 56406134 56406134 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 56406134 56406134 single base substitution G A upstream_gene_variant MELA-AU 17 56406212 56406212 single base substitution C T upstream_gene_variant MELA-AU 17 56406248 56406249 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 56406699 56406699 single base substitution C T upstream_gene_variant MELA-AU 17 56407320 56407320 single base substitution C T upstream_gene_variant MELA-AU 17 56408146 56408146 single base substitution G A upstream_gene_variant MELA-AU 17 56408324 56408324 single base substitution C T upstream_gene_variant MELA-AU 17 56408726 56408726 single base substitution C T upstream_gene_variant MELA-AU 17 56408919 56408920 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 56408920 56408920 single base substitution C T upstream_gene_variant MELA-AU 17 56409088 56409088 single base substitution C T upstream_gene_variant MELA-AU 17 56409124 56409124 single base substitution C T upstream_gene_variant MELA-AU 17 56409248 56409248 single base substitution T C upstream_gene_variant MELA-AU 17 56409250 56409250 single base substitution G T upstream_gene_variant MELA-AU 17 56409315 56409315 single base substitution C T upstream_gene_variant MELA-AU 17 56409825 56409825 single base substitution C T upstream_gene_variant MELA-AU 17 56409876 56409876 single base substitution C T upstream_gene_variant MELA-AU 17 56409999 56409999 single base substitution C T upstream_gene_variant MELA-AU 17 56410099 56410099 single base substitution C T upstream_gene_variant MELA-AU 17 56410141 56410141 single base substitution G A upstream_gene_variant MELA-AU 17 56410317 56410318 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 56410373 56410373 single base substitution G A upstream_gene_variant MELA-AU 17 56410713 56410713 single base substitution C T upstream_gene_variant MELA-AU 17 56410715 56410716 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 56410758 56410758 single base substitution G A upstream_gene_variant ORCA-IN 17 56384308 56384308 single base substitution C T downstream_gene_variant ORCA-IN 17 56384308 56384308 single base substitution C T missense_variant D1609N 4825G>A ORCA-IN 17 56384308 56384308 single base substitution C T missense_variant D1669N 5005G>A ORCA-IN 17 56384308 56384308 single base substitution C T missense_variant D232N 694G>A ORCA-IN 17 56384308 56384308 single base substitution C T missense_variant D99N 295G>A ORCA-IN 17 56384308 56384308 single base substitution C T upstream_gene_variant ORCA-IN 17 56386107 56386107 single base substitution G A downstream_gene_variant ORCA-IN 17 56386107 56386107 single base substitution G A intron_variant ORCA-IN 17 56386107 56386107 single base substitution G A missense_variant A1449V 4346C>T ORCA-IN 17 56386107 56386107 single base substitution G A missense_variant A1509V 4526C>T ORCA-IN 17 56386107 56386107 single base substitution G A upstream_gene_variant ORCA-IN 17 56388400 56388400 single base substitution G A downstream_gene_variant ORCA-IN 17 56388400 56388400 single base substitution G A stop_gained R1026* 3076C>T ORCA-IN 17 56388400 56388400 single base substitution G A stop_gained R1086* 3256C>T ORCA-IN 17 56388400 56388400 single base substitution G A upstream_gene_variant ORCA-IN 17 56389207 56389207 single base substitution C T intron_variant ORCA-IN 17 56389207 56389207 single base substitution C T upstream_gene_variant ORCA-IN 17 56392992 56392993 deletion of <=200bp TG - intron_variant ORCA-IN 17 56392992 56392993 deletion of <=200bp TG - upstream_gene_variant ORCA-IN 17 56395801 56395801 single base substitution G A downstream_gene_variant ORCA-IN 17 56395801 56395801 single base substitution G A missense_variant P511L 1532C>T ORCA-IN 17 56395801 56395801 single base substitution G A missense_variant P571L 1712C>T OV-AU 17 56379744 56379744 single base substitution C T 3_prime_UTR_variant OV-AU 17 56379744 56379744 single base substitution C T downstream_gene_variant OV-AU 17 56379744 56379744 single base substitution C T exon_variant OV-AU 17 56379744 56379744 single base substitution C T missense_variant G134D 401G>A OV-AU 17 56379744 56379744 single base substitution C T missense_variant G1870D 5609G>A OV-AU 17 56379759 56379759 single base substitution C T 3_prime_UTR_variant OV-AU 17 56379759 56379759 single base substitution C T downstream_gene_variant OV-AU 17 56379759 56379759 single base substitution C T exon_variant OV-AU 17 56379759 56379759 single base substitution C T missense_variant C129Y 386G>A OV-AU 17 56379759 56379759 single base substitution C T missense_variant C1865Y 5594G>A OV-AU 17 56386450 56386450 single base substitution C T downstream_gene_variant OV-AU 17 56386450 56386450 single base substitution C T intron_variant OV-AU 17 56386450 56386450 single base substitution C T missense_variant D1335N 4003G>A OV-AU 17 56386450 56386450 single base substitution C T missense_variant D1395N 4183G>A OV-AU 17 56386450 56386450 single base substitution C T upstream_gene_variant OV-AU 17 56386595 56386595 single base substitution C T downstream_gene_variant OV-AU 17 56386595 56386595 single base substitution C T intron_variant OV-AU 17 56386595 56386595 single base substitution C T synonymous_variant E1286E 3858G>A OV-AU 17 56386595 56386595 single base substitution C T synonymous_variant E1346E 4038G>A OV-AU 17 56386595 56386595 single base substitution C T upstream_gene_variant OV-AU 17 56386598 56386598 single base substitution C G downstream_gene_variant OV-AU 17 56386598 56386598 single base substitution C G intron_variant OV-AU 17 56386598 56386598 single base substitution C G missense_variant E1285D 3855G>C OV-AU 17 56386598 56386598 single base substitution C G missense_variant E1345D 4035G>C OV-AU 17 56386598 56386598 single base substitution C G upstream_gene_variant OV-AU 17 56389919 56389919 single base substitution C T missense_variant G695R 2083G>A OV-AU 17 56389919 56389919 single base substitution C T missense_variant G755R 2263G>A OV-AU 17 56389919 56389919 single base substitution C T upstream_gene_variant OV-AU 17 56392358 56392358 single base substitution G C intron_variant OV-AU 17 56392358 56392358 single base substitution G C upstream_gene_variant OV-AU 17 56395992 56395992 single base substitution C G downstream_gene_variant OV-AU 17 56395992 56395992 single base substitution C G intron_variant OV-AU 17 56399213 56399213 single base substitution C A downstream_gene_variant OV-AU 17 56399213 56399213 single base substitution C A intron_variant OV-AU 17 56403839 56403839 single base substitution C T intron_variant OV-AU 17 56403839 56403839 single base substitution C T upstream_gene_variant OV-AU 17 56404075 56404075 single base substitution C A missense_variant C137F 410G>T OV-AU 17 56404075 56404075 single base substitution C A upstream_gene_variant OV-AU 17 56410894 56410894 single base substitution A G upstream_gene_variant PACA-AU 17 56373812 56373812 single base substitution G A downstream_gene_variant PACA-AU 17 56374070 56374070 single base substitution T C downstream_gene_variant PACA-AU 17 56374444 56374444 single base substitution A T downstream_gene_variant PACA-AU 17 56374572 56374572 single base substitution G T downstream_gene_variant PACA-AU 17 56374702 56374702 single base substitution G T downstream_gene_variant PACA-AU 17 56374760 56374760 single base substitution G T downstream_gene_variant PACA-AU 17 56374785 56374785 single base substitution G C downstream_gene_variant PACA-AU 17 56374866 56374866 single base substitution G C downstream_gene_variant PACA-AU 17 56374895 56374895 single base substitution G A downstream_gene_variant PACA-AU 17 56374919 56374919 single base substitution G C downstream_gene_variant PACA-AU 17 56375043 56375043 single base substitution C T downstream_gene_variant PACA-AU 17 56381593 56381593 insertion of <=200bp - A downstream_gene_variant PACA-AU 17 56381593 56381593 insertion of <=200bp - A exon_variant PACA-AU 17 56381593 56381593 insertion of <=200bp - A intron_variant PACA-AU 17 56383060 56383060 single base substitution C T downstream_gene_variant PACA-AU 17 56383060 56383060 single base substitution C T intron_variant PACA-AU 17 56383060 56383060 single base substitution C T upstream_gene_variant PACA-AU 17 56383095 56383095 single base substitution C A downstream_gene_variant PACA-AU 17 56383095 56383095 single base substitution C A intron_variant PACA-AU 17 56383095 56383095 single base substitution C A upstream_gene_variant PACA-AU 17 56383261 56383261 single base substitution C A downstream_gene_variant PACA-AU 17 56383261 56383261 single base substitution C A intron_variant PACA-AU 17 56383261 56383261 single base substitution C A upstream_gene_variant PACA-AU 17 56383729 56383729 single base substitution G A downstream_gene_variant PACA-AU 17 56383729 56383729 single base substitution G A exon_variant PACA-AU 17 56383729 56383729 single base substitution G A missense_variant P154L 461C>T PACA-AU 17 56383729 56383729 single base substitution G A missense_variant P1673L 5018C>T PACA-AU 17 56383729 56383729 single base substitution G A missense_variant P1733L 5198C>T PACA-AU 17 56383729 56383729 single base substitution G A missense_variant P287L 860C>T PACA-AU 17 56383729 56383729 single base substitution G A upstream_gene_variant PACA-AU 17 56386598 56386598 single base substitution C G downstream_gene_variant PACA-AU 17 56386598 56386598 single base substitution C G intron_variant PACA-AU 17 56386598 56386598 single base substitution C G missense_variant E1285D 3855G>C PACA-AU 17 56386598 56386598 single base substitution C G missense_variant E1345D 4035G>C PACA-AU 17 56386598 56386598 single base substitution C G upstream_gene_variant PACA-AU 17 56386622 56386622 single base substitution T C downstream_gene_variant PACA-AU 17 56386622 56386622 single base substitution T C intron_variant PACA-AU 17 56386622 56386622 single base substitution T C synonymous_variant E1277E 3831A>G PACA-AU 17 56386622 56386622 single base substitution T C synonymous_variant E1337E 4011A>G PACA-AU 17 56386622 56386622 single base substitution T C upstream_gene_variant PACA-AU 17 56389168 56389168 single base substitution G A intron_variant PACA-AU 17 56389168 56389168 single base substitution G A upstream_gene_variant PACA-AU 17 56389515 56389515 single base substitution C T synonymous_variant R829R 2487G>A PACA-AU 17 56389515 56389515 single base substitution C T synonymous_variant R889R 2667G>A PACA-AU 17 56389515 56389515 single base substitution C T upstream_gene_variant PACA-AU 17 56392499 56392499 single base substitution C G intron_variant PACA-AU 17 56392499 56392499 single base substitution C G upstream_gene_variant PACA-AU 17 56393289 56393289 single base substitution G A intron_variant PACA-AU 17 56393289 56393289 single base substitution G A upstream_gene_variant PACA-AU 17 56400418 56400418 single base substitution C A intron_variant PACA-AU 17 56400418 56400418 single base substitution C A upstream_gene_variant PACA-AU 17 56402727 56402727 single base substitution A C intron_variant PACA-AU 17 56402727 56402727 single base substitution A C upstream_gene_variant PACA-AU 17 56408555 56408555 single base substitution G A upstream_gene_variant PACA-CA 17 56374444 56374444 single base substitution A T downstream_gene_variant PACA-CA 17 56375800 56375800 insertion of <=200bp - A downstream_gene_variant PACA-CA 17 56381747 56381749 deletion of <=200bp CTC - disruptive_inframe_deletion RR1792R PACA-CA 17 56381747 56381749 deletion of <=200bp CTC - disruptive_inframe_deletion RR1852R PACA-CA 17 56381747 56381749 deletion of <=200bp CTC - downstream_gene_variant PACA-CA 17 56381747 56381749 deletion of <=200bp CTC - exon_variant PACA-CA 17 56381747 56381749 deletion of <=200bp CTC - intron_variant PACA-CA 17 56382836 56382836 single base substitution G A downstream_gene_variant PACA-CA 17 56382836 56382836 single base substitution G A intron_variant PACA-CA 17 56382836 56382836 single base substitution G A upstream_gene_variant PACA-CA 17 56383267 56383267 single base substitution C T downstream_gene_variant PACA-CA 17 56383267 56383267 single base substitution C T intron_variant PACA-CA 17 56383267 56383267 single base substitution C T upstream_gene_variant PACA-CA 17 56384290 56384290 single base substitution C T downstream_gene_variant PACA-CA 17 56384290 56384290 single base substitution C T missense_variant E105K 313G>A PACA-CA 17 56384290 56384290 single base substitution C T missense_variant E1615K 4843G>A PACA-CA 17 56384290 56384290 single base substitution C T missense_variant E1675K 5023G>A PACA-CA 17 56384290 56384290 single base substitution C T missense_variant E238K 712G>A PACA-CA 17 56384290 56384290 single base substitution C T upstream_gene_variant PACA-CA 17 56384678 56384678 single base substitution G C downstream_gene_variant PACA-CA 17 56384678 56384678 single base substitution G C intron_variant PACA-CA 17 56384678 56384678 single base substitution G C upstream_gene_variant PACA-CA 17 56385720 56385720 single base substitution C T downstream_gene_variant PACA-CA 17 56385720 56385720 single base substitution C T intron_variant PACA-CA 17 56385720 56385720 single base substitution C T upstream_gene_variant PACA-CA 17 56386052 56386052 single base substitution G T downstream_gene_variant PACA-CA 17 56386052 56386052 single base substitution G T intron_variant PACA-CA 17 56386052 56386052 single base substitution G T synonymous_variant A1467A 4401C>A PACA-CA 17 56386052 56386052 single base substitution G T synonymous_variant A1527A 4581C>A PACA-CA 17 56386052 56386052 single base substitution G T upstream_gene_variant PACA-CA 17 56386383 56386383 insertion of <=200bp - TT downstream_gene_variant PACA-CA 17 56386383 56386383 insertion of <=200bp - TT frameshift_variant S1357R? PACA-CA 17 56386383 56386383 insertion of <=200bp - TT frameshift_variant S1417R? PACA-CA 17 56386383 56386383 insertion of <=200bp - TT intron_variant PACA-CA 17 56386383 56386383 insertion of <=200bp - TT upstream_gene_variant PACA-CA 17 56388336 56388336 single base substitution G C downstream_gene_variant PACA-CA 17 56388336 56388336 single base substitution G C missense_variant P1047R 3140C>G PACA-CA 17 56388336 56388336 single base substitution G C missense_variant P1107R 3320C>G PACA-CA 17 56388336 56388336 single base substitution G C upstream_gene_variant PACA-CA 17 56389122 56389122 single base substitution G A intron_variant PACA-CA 17 56389122 56389122 single base substitution G A upstream_gene_variant PACA-CA 17 56396564 56396564 single base substitution G A downstream_gene_variant PACA-CA 17 56396564 56396564 single base substitution G A missense_variant P469L 1406C>T PACA-CA 17 56396564 56396564 single base substitution G A missense_variant P529L 1586C>T PACA-CA 17 56399617 56399617 single base substitution G T exon_variant PACA-CA 17 56399617 56399617 single base substitution G T intron_variant PACA-CA 17 56402178 56402178 single base substitution C G synonymous_variant P252P 756G>C PACA-CA 17 56402178 56402178 single base substitution C G synonymous_variant P312P 936G>C PACA-CA 17 56402178 56402178 single base substitution C G upstream_gene_variant PACA-CA 17 56403916 56403916 single base substitution T C intron_variant PACA-CA 17 56403916 56403916 single base substitution T C upstream_gene_variant PACA-CA 17 56404456 56404456 single base substitution T C intron_variant PACA-CA 17 56404456 56404456 single base substitution T C upstream_gene_variant PACA-CA 17 56405880 56405880 single base substitution G A 5_prime_UTR_variant PACA-CA 17 56405880 56405880 single base substitution G A upstream_gene_variant PACA-CA 17 56410122 56410122 single base substitution C T upstream_gene_variant PAEN-AU 17 56377366 56377366 single base substitution G A downstream_gene_variant PAEN-AU 17 56406168 56406168 single base substitution T G upstream_gene_variant PAEN-AU 17 56409568 56409568 single base substitution C G upstream_gene_variant PAEN-IT 17 56376523 56376523 single base substitution A T downstream_gene_variant PAEN-IT 17 56387684 56387684 single base substitution G T downstream_gene_variant PAEN-IT 17 56387684 56387684 single base substitution G T intron_variant PAEN-IT 17 56387684 56387684 single base substitution G T upstream_gene_variant PBCA-DE 17 56375425 56375425 single base substitution G A downstream_gene_variant PBCA-DE 17 56379806 56379806 single base substitution G A downstream_gene_variant PBCA-DE 17 56379806 56379806 single base substitution G A exon_variant PBCA-DE 17 56379806 56379806 single base substitution G A splice_region_variant PBCA-DE 17 56381121 56381121 single base substitution C G downstream_gene_variant PBCA-DE 17 56381121 56381121 single base substitution C G exon_variant PBCA-DE 17 56381121 56381121 single base substitution C G intron_variant PBCA-DE 17 56382682 56382682 single base substitution G A downstream_gene_variant PBCA-DE 17 56382682 56382682 single base substitution G A exon_variant PBCA-DE 17 56382682 56382682 single base substitution G A intron_variant PBCA-DE 17 56391101 56391101 single base substitution G T intron_variant PBCA-DE 17 56391101 56391101 single base substitution G T upstream_gene_variant PBCA-DE 17 56391576 56391576 single base substitution A G intron_variant PBCA-DE 17 56391576 56391576 single base substitution A G upstream_gene_variant PBCA-DE 17 56397282 56397282 single base substitution C T downstream_gene_variant PBCA-DE 17 56397282 56397282 single base substitution C T intron_variant PBCA-DE 17 56411096 56411096 single base substitution G T upstream_gene_variant PRAD-CA 17 56395298 56395298 single base substitution C T downstream_gene_variant PRAD-CA 17 56395298 56395298 single base substitution C T intron_variant PRAD-CA 17 56396569 56396569 single base substitution C A downstream_gene_variant PRAD-CA 17 56396569 56396569 single base substitution C A synonymous_variant L467L 1401G>T PRAD-CA 17 56396569 56396569 single base substitution C A synonymous_variant L527L 1581G>T PRAD-CA 17 56409691 56409691 single base substitution C T upstream_gene_variant PRAD-UK 17 56375186 56375186 single base substitution T A downstream_gene_variant PRAD-UK 17 56375187 56375187 single base substitution G T downstream_gene_variant PRAD-UK 17 56377951 56377951 single base substitution A G downstream_gene_variant PRAD-UK 17 56402239 56402239 single base substitution G C missense_variant P232R 695C>G PRAD-UK 17 56402239 56402239 single base substitution G C missense_variant P292R 875C>G PRAD-UK 17 56402239 56402239 single base substitution G C upstream_gene_variant PRAD-UK 17 56408181 56408181 single base substitution C G upstream_gene_variant PRAD-US 17 56385061 56385061 single base substitution C A downstream_gene_variant PRAD-US 17 56385061 56385061 single base substitution C A exon_variant PRAD-US 17 56385061 56385061 single base substitution C A missense_variant A1572S 4714G>T PRAD-US 17 56385061 56385061 single base substitution C A missense_variant A1632S 4894G>T PRAD-US 17 56385061 56385061 single base substitution C A missense_variant A195S 583G>T PRAD-US 17 56385061 56385061 single base substitution C A missense_variant A62S 184G>T PRAD-US 17 56385061 56385061 single base substitution C A upstream_gene_variant PRAD-US 17 56385933 56385933 single base substitution G A downstream_gene_variant PRAD-US 17 56385933 56385933 single base substitution G A exon_variant PRAD-US 17 56385933 56385933 single base substitution G A intron_variant PRAD-US 17 56385933 56385933 single base substitution G A missense_variant A1507V 4520C>T PRAD-US 17 56385933 56385933 single base substitution G A missense_variant A1567V 4700C>T PRAD-US 17 56385933 56385933 single base substitution G A upstream_gene_variant PRAD-US 17 56386548 56386548 deletion of <=200bp G - downstream_gene_variant PRAD-US 17 56386548 56386548 deletion of <=200bp G - frameshift_variant P1302 PRAD-US 17 56386548 56386548 deletion of <=200bp G - frameshift_variant P1362 PRAD-US 17 56386548 56386548 deletion of <=200bp G - intron_variant PRAD-US 17 56386548 56386548 deletion of <=200bp G - upstream_gene_variant READ-US 17 56385029 56385029 single base substitution C T downstream_gene_variant READ-US 17 56385029 56385029 single base substitution C T exon_variant READ-US 17 56385029 56385029 single base substitution C T synonymous_variant S1582S 4746G>A READ-US 17 56385029 56385029 single base substitution C T synonymous_variant S1642S 4926G>A READ-US 17 56385029 56385029 single base substitution C T synonymous_variant S205S 615G>A READ-US 17 56385029 56385029 single base substitution C T synonymous_variant S72S 216G>A READ-US 17 56385029 56385029 single base substitution C T upstream_gene_variant READ-US 17 56400716 56400716 single base substitution C A missense_variant K289N 867G>T READ-US 17 56400716 56400716 single base substitution C A missense_variant K349N 1047G>T READ-US 17 56400716 56400716 single base substitution C A upstream_gene_variant RECA-EU 17 56394994 56394994 single base substitution C A downstream_gene_variant RECA-EU 17 56394994 56394994 single base substitution C A intron_variant RECA-EU 17 56400366 56400366 single base substitution G A missense_variant A320V 959C>T RECA-EU 17 56400366 56400366 single base substitution G A missense_variant A380V 1139C>T RECA-EU 17 56400366 56400366 single base substitution G A upstream_gene_variant RECA-EU 17 56400367 56400367 single base substitution C T missense_variant A320T 958G>A RECA-EU 17 56400367 56400367 single base substitution C T missense_variant A380T 1138G>A RECA-EU 17 56400367 56400367 single base substitution C T upstream_gene_variant RECA-EU 17 56401181 56401181 single base substitution C A intron_variant RECA-EU 17 56401181 56401181 single base substitution C A upstream_gene_variant SKCA-BR 17 56375881 56375881 single base substitution C T downstream_gene_variant SKCA-BR 17 56377968 56377968 single base substitution C T downstream_gene_variant SKCA-BR 17 56378010 56378010 single base substitution G A downstream_gene_variant SKCA-BR 17 56378582 56378582 single base substitution C T downstream_gene_variant SKCA-BR 17 56378788 56378788 single base substitution T C 3_prime_UTR_variant SKCA-BR 17 56378788 56378788 single base substitution T C downstream_gene_variant SKCA-BR 17 56378788 56378788 single base substitution T C exon_variant SKCA-BR 17 56380005 56380005 single base substitution G A downstream_gene_variant SKCA-BR 17 56380005 56380005 single base substitution G A exon_variant SKCA-BR 17 56380005 56380005 single base substitution G A intron_variant SKCA-BR 17 56380161 56380161 single base substitution C A downstream_gene_variant SKCA-BR 17 56380161 56380161 single base substitution C A exon_variant SKCA-BR 17 56380161 56380161 single base substitution C A intron_variant SKCA-BR 17 56382267 56382267 single base substitution C T downstream_gene_variant SKCA-BR 17 56382267 56382267 single base substitution C T exon_variant SKCA-BR 17 56382267 56382267 single base substitution C T intron_variant SKCA-BR 17 56382335 56382335 single base substitution A C downstream_gene_variant SKCA-BR 17 56382335 56382335 single base substitution A C exon_variant SKCA-BR 17 56382335 56382335 single base substitution A C intron_variant SKCA-BR 17 56383744 56383744 single base substitution T C downstream_gene_variant SKCA-BR 17 56383744 56383744 single base substitution T C exon_variant SKCA-BR 17 56383744 56383744 single base substitution T C missense_variant H149R 446A>G SKCA-BR 17 56383744 56383744 single base substitution T C missense_variant H1668R 5003A>G SKCA-BR 17 56383744 56383744 single base substitution T C missense_variant H1728R 5183A>G SKCA-BR 17 56383744 56383744 single base substitution T C missense_variant H282R 845A>G SKCA-BR 17 56383744 56383744 single base substitution T C upstream_gene_variant SKCA-BR 17 56387333 56387333 single base substitution C T downstream_gene_variant SKCA-BR 17 56387333 56387333 single base substitution C T missense_variant A1236T 3706G>A SKCA-BR 17 56387333 56387333 single base substitution C T missense_variant A1296T 3886G>A SKCA-BR 17 56387333 56387333 single base substitution C T missense_variant A139T 415G>A SKCA-BR 17 56387333 56387333 single base substitution C T upstream_gene_variant SKCA-BR 17 56390051 56390051 single base substitution G A missense_variant P651S 1951C>T SKCA-BR 17 56390051 56390051 single base substitution G A missense_variant P711S 2131C>T SKCA-BR 17 56390051 56390051 single base substitution G A upstream_gene_variant SKCA-BR 17 56395844 56395844 single base substitution T G downstream_gene_variant SKCA-BR 17 56395844 56395844 single base substitution T G intron_variant SKCA-BR 17 56396113 56396113 single base substitution G A downstream_gene_variant SKCA-BR 17 56396113 56396113 single base substitution G A intron_variant SKCA-BR 17 56397799 56397799 single base substitution T C downstream_gene_variant SKCA-BR 17 56397799 56397799 single base substitution T C intron_variant SKCA-BR 17 56399385 56399385 single base substitution C T downstream_gene_variant SKCA-BR 17 56399385 56399385 single base substitution C T intron_variant SKCA-BR 17 56401826 56401826 single base substitution A G intron_variant SKCA-BR 17 56401826 56401826 single base substitution A G upstream_gene_variant SKCA-BR 17 56404471 56404471 single base substitution C T intron_variant SKCA-BR 17 56404471 56404471 single base substitution C T upstream_gene_variant SKCA-BR 17 56405799 56405799 single base substitution C T 5_prime_UTR_variant SKCA-BR 17 56405799 56405799 single base substitution C T upstream_gene_variant SKCA-BR 17 56410393 56410393 single base substitution G A upstream_gene_variant SKCM-US 17 56382452 56382452 single base substitution C T downstream_gene_variant SKCM-US 17 56382452 56382452 single base substitution C T exon_variant SKCM-US 17 56382452 56382452 single base substitution C T synonymous_variant R102R 306G>A SKCM-US 17 56382452 56382452 single base substitution C T synonymous_variant R1778R 5334G>A SKCM-US 17 56382452 56382452 single base substitution C T synonymous_variant R1838R 5514G>A SKCM-US 17 56382452 56382452 single base substitution C T synonymous_variant R259R 777G>A SKCM-US 17 56382491 56382491 single base substitution G A downstream_gene_variant SKCM-US 17 56382491 56382491 single base substitution G A exon_variant SKCM-US 17 56382491 56382491 single base substitution G A synonymous_variant F1765F 5295C>T SKCM-US 17 56382491 56382491 single base substitution G A synonymous_variant F1825F 5475C>T SKCM-US 17 56382491 56382491 single base substitution G A synonymous_variant F246F 738C>T SKCM-US 17 56382491 56382491 single base substitution G A synonymous_variant F89F 267C>T SKCM-US 17 56382511 56382511 single base substitution C T downstream_gene_variant SKCM-US 17 56382511 56382511 single base substitution C T exon_variant SKCM-US 17 56382511 56382511 single base substitution C T missense_variant G1759S 5275G>A SKCM-US 17 56382511 56382511 single base substitution C T missense_variant G1819S 5455G>A SKCM-US 17 56382511 56382511 single base substitution C T missense_variant G240S 718G>A SKCM-US 17 56382511 56382511 single base substitution C T missense_variant G83S 247G>A SKCM-US 17 56382513 56382513 single base substitution C T downstream_gene_variant SKCM-US 17 56382513 56382513 single base substitution C T exon_variant SKCM-US 17 56382513 56382513 single base substitution C T missense_variant R1758K 5273G>A SKCM-US 17 56382513 56382513 single base substitution C T missense_variant R1818K 5453G>A SKCM-US 17 56382513 56382513 single base substitution C T missense_variant R239K 716G>A SKCM-US 17 56382513 56382513 single base substitution C T missense_variant R82K 245G>A SKCM-US 17 56382920 56382920 single base substitution G A downstream_gene_variant SKCM-US 17 56382920 56382920 single base substitution G A exon_variant SKCM-US 17 56382920 56382920 single base substitution G A missense_variant S1721F 5162C>T SKCM-US 17 56382920 56382920 single base substitution G A missense_variant S1781F 5342C>T SKCM-US 17 56382920 56382920 single base substitution G A missense_variant S202F 605C>T SKCM-US 17 56382920 56382920 single base substitution G A missense_variant S45F 134C>T SKCM-US 17 56382920 56382920 single base substitution G A upstream_gene_variant SKCM-US 17 56382928 56382928 single base substitution C T downstream_gene_variant SKCM-US 17 56382928 56382928 single base substitution C T exon_variant SKCM-US 17 56382928 56382928 single base substitution C T synonymous_variant Q1718Q 5154G>A SKCM-US 17 56382928 56382928 single base substitution C T synonymous_variant Q1778Q 5334G>A SKCM-US 17 56382928 56382928 single base substitution C T synonymous_variant Q199Q 597G>A SKCM-US 17 56382928 56382928 single base substitution C T synonymous_variant Q42Q 126G>A SKCM-US 17 56382928 56382928 single base substitution C T upstream_gene_variant SKCM-US 17 56384174 56384174 single base substitution G A downstream_gene_variant SKCM-US 17 56384174 56384174 single base substitution G A exon_variant SKCM-US 17 56384174 56384174 single base substitution G A synonymous_variant L143L 429C>T SKCM-US 17 56384174 56384174 single base substitution G A synonymous_variant L1653L 4959C>T SKCM-US 17 56384174 56384174 single base substitution G A synonymous_variant L1713L 5139C>T SKCM-US 17 56384174 56384174 single base substitution G A synonymous_variant L276L 828C>T SKCM-US 17 56384174 56384174 single base substitution G A upstream_gene_variant SKCM-US 17 56384997 56384997 single base substitution G A downstream_gene_variant SKCM-US 17 56384997 56384997 single base substitution G A exon_variant SKCM-US 17 56384997 56384997 single base substitution G A missense_variant P1593L 4778C>T SKCM-US 17 56384997 56384997 single base substitution G A missense_variant P1653L 4958C>T SKCM-US 17 56384997 56384997 single base substitution G A missense_variant P216L 647C>T SKCM-US 17 56384997 56384997 single base substitution G A missense_variant P83L 248C>T SKCM-US 17 56384997 56384997 single base substitution G A upstream_gene_variant SKCM-US 17 56385969 56385969 single base substitution C A downstream_gene_variant SKCM-US 17 56385969 56385969 single base substitution C A intron_variant SKCM-US 17 56385969 56385969 single base substitution C A missense_variant W1495L 4484G>T SKCM-US 17 56385969 56385969 single base substitution C A missense_variant W1555L 4664G>T SKCM-US 17 56385969 56385969 single base substitution C A upstream_gene_variant SKCM-US 17 56386068 56386068 single base substitution G A downstream_gene_variant SKCM-US 17 56386068 56386068 single base substitution G A intron_variant SKCM-US 17 56386068 56386068 single base substitution G A missense_variant P1462L 4385C>T SKCM-US 17 56386068 56386068 single base substitution G A missense_variant P1522L 4565C>T SKCM-US 17 56386068 56386068 single base substitution G A upstream_gene_variant SKCM-US 17 56386213 56386213 single base substitution G A downstream_gene_variant SKCM-US 17 56386213 56386213 single base substitution G A intron_variant SKCM-US 17 56386213 56386213 single base substitution G A missense_variant R1414W 4240C>T SKCM-US 17 56386213 56386213 single base substitution G A missense_variant R1474W 4420C>T SKCM-US 17 56386213 56386213 single base substitution G A upstream_gene_variant SKCM-US 17 56386214 56386214 single base substitution G A downstream_gene_variant SKCM-US 17 56386214 56386214 single base substitution G A intron_variant SKCM-US 17 56386214 56386214 single base substitution G A synonymous_variant S1413S 4239C>T SKCM-US 17 56386214 56386214 single base substitution G A synonymous_variant S1473S 4419C>T SKCM-US 17 56386214 56386214 single base substitution G A upstream_gene_variant SKCM-US 17 56386285 56386285 single base substitution C T downstream_gene_variant SKCM-US 17 56386285 56386285 single base substitution C T intron_variant SKCM-US 17 56386285 56386285 single base substitution C T missense_variant G1390S 4168G>A SKCM-US 17 56386285 56386285 single base substitution C T missense_variant G1450S 4348G>A SKCM-US 17 56386285 56386285 single base substitution C T upstream_gene_variant SKCM-US 17 56386309 56386309 single base substitution G A downstream_gene_variant SKCM-US 17 56386309 56386309 single base substitution G A intron_variant SKCM-US 17 56386309 56386309 single base substitution G A stop_gained R1382* 4144C>T SKCM-US 17 56386309 56386309 single base substitution G A stop_gained R1442* 4324C>T SKCM-US 17 56386309 56386309 single base substitution G A upstream_gene_variant SKCM-US 17 56386323 56386323 single base substitution G A downstream_gene_variant SKCM-US 17 56386323 56386323 single base substitution G A intron_variant SKCM-US 17 56386323 56386323 single base substitution G A missense_variant P1377L 4130C>T SKCM-US 17 56386323 56386323 single base substitution G A missense_variant P1437L 4310C>T SKCM-US 17 56386323 56386323 single base substitution G A upstream_gene_variant SKCM-US 17 56386398 56386398 single base substitution G A downstream_gene_variant SKCM-US 17 56386398 56386398 single base substitution G A intron_variant SKCM-US 17 56386398 56386398 single base substitution G A missense_variant P1352L 4055C>T SKCM-US 17 56386398 56386398 single base substitution G A missense_variant P1412L 4235C>T SKCM-US 17 56386398 56386398 single base substitution G A upstream_gene_variant SKCM-US 17 56386440 56386440 single base substitution C T downstream_gene_variant SKCM-US 17 56386440 56386440 single base substitution C T intron_variant SKCM-US 17 56386440 56386440 single base substitution C T missense_variant G1338E 4013G>A SKCM-US 17 56386440 56386440 single base substitution C T missense_variant G1398E 4193G>A SKCM-US 17 56386440 56386440 single base substitution C T upstream_gene_variant SKCM-US 17 56386569 56386569 single base substitution C T downstream_gene_variant SKCM-US 17 56386569 56386569 single base substitution C T intron_variant SKCM-US 17 56386569 56386569 single base substitution C T missense_variant R1295Q 3884G>A SKCM-US 17 56386569 56386569 single base substitution C T missense_variant R1355Q 4064G>A SKCM-US 17 56386569 56386569 single base substitution C T upstream_gene_variant SKCM-US 17 56386570 56386570 single base substitution G A downstream_gene_variant SKCM-US 17 56386570 56386570 single base substitution G A intron_variant SKCM-US 17 56386570 56386570 single base substitution G A stop_gained R1295* 3883C>T SKCM-US 17 56386570 56386570 single base substitution G A stop_gained R1355* 4063C>T SKCM-US 17 56386570 56386570 single base substitution G A upstream_gene_variant SKCM-US 17 56386606 56386606 single base substitution C T downstream_gene_variant SKCM-US 17 56386606 56386606 single base substitution C T intron_variant SKCM-US 17 56386606 56386606 single base substitution C T missense_variant E1283K 3847G>A SKCM-US 17 56386606 56386606 single base substitution C T missense_variant E1343K 4027G>A SKCM-US 17 56386606 56386606 single base substitution C T upstream_gene_variant SKCM-US 17 56386636 56386636 single base substitution G A downstream_gene_variant SKCM-US 17 56386636 56386636 single base substitution G A intron_variant SKCM-US 17 56386636 56386636 single base substitution G A missense_variant P1273S 3817C>T SKCM-US 17 56386636 56386636 single base substitution G A missense_variant P1333S 3997C>T SKCM-US 17 56386636 56386636 single base substitution G A upstream_gene_variant SKCM-US 17 56386727 56386727 single base substitution G A downstream_gene_variant SKCM-US 17 56386727 56386727 single base substitution G A intron_variant SKCM-US 17 56386727 56386727 single base substitution G A synonymous_variant P1242P 3726C>T SKCM-US 17 56386727 56386727 single base substitution G A synonymous_variant P1302P 3906C>T SKCM-US 17 56386727 56386727 single base substitution G A upstream_gene_variant SKCM-US 17 56386733 56386733 single base substitution G A downstream_gene_variant SKCM-US 17 56386733 56386733 single base substitution G A intron_variant SKCM-US 17 56386733 56386733 single base substitution G A synonymous_variant P1240P 3720C>T SKCM-US 17 56386733 56386733 single base substitution G A synonymous_variant P1300P 3900C>T SKCM-US 17 56386733 56386733 single base substitution G A upstream_gene_variant SKCM-US 17 56387343 56387343 single base substitution C T downstream_gene_variant SKCM-US 17 56387343 56387343 single base substitution C T synonymous_variant R1232R 3696G>A SKCM-US 17 56387343 56387343 single base substitution C T synonymous_variant R1292R 3876G>A SKCM-US 17 56387343 56387343 single base substitution C T synonymous_variant R135R 405G>A SKCM-US 17 56387343 56387343 single base substitution C T upstream_gene_variant SKCM-US 17 56387372 56387372 single base substitution G A downstream_gene_variant SKCM-US 17 56387372 56387372 single base substitution G A stop_gained Q1223* 3667C>T SKCM-US 17 56387372 56387372 single base substitution G A stop_gained Q126* 376C>T SKCM-US 17 56387372 56387372 single base substitution G A stop_gained Q1283* 3847C>T SKCM-US 17 56387372 56387372 single base substitution G A upstream_gene_variant SKCM-US 17 56387432 56387432 single base substitution C T downstream_gene_variant SKCM-US 17 56387432 56387432 single base substitution C T missense_variant E106K 316G>A SKCM-US 17 56387432 56387432 single base substitution C T missense_variant E1203K 3607G>A SKCM-US 17 56387432 56387432 single base substitution C T missense_variant E1263K 3787G>A SKCM-US 17 56387432 56387432 single base substitution C T upstream_gene_variant SKCM-US 17 56387438 56387438 single base substitution G A downstream_gene_variant SKCM-US 17 56387438 56387438 single base substitution G A stop_gained Q104* 310C>T SKCM-US 17 56387438 56387438 single base substitution G A stop_gained Q1201* 3601C>T SKCM-US 17 56387438 56387438 single base substitution G A stop_gained Q1261* 3781C>T SKCM-US 17 56387438 56387438 single base substitution G A upstream_gene_variant SKCM-US 17 56387942 56387942 single base substitution G A downstream_gene_variant SKCM-US 17 56387942 56387942 single base substitution G A synonymous_variant A1150A 3450C>T SKCM-US 17 56387942 56387942 single base substitution G A synonymous_variant A1210A 3630C>T SKCM-US 17 56387942 56387942 single base substitution G A synonymous_variant A53A 159C>T SKCM-US 17 56387942 56387942 single base substitution G A upstream_gene_variant SKCM-US 17 56388020 56388020 single base substitution G A downstream_gene_variant SKCM-US 17 56388020 56388020 single base substitution G A synonymous_variant P1124P 3372C>T SKCM-US 17 56388020 56388020 single base substitution G A synonymous_variant P1184P 3552C>T SKCM-US 17 56388020 56388020 single base substitution G A synonymous_variant P27P 81C>T SKCM-US 17 56388020 56388020 single base substitution G A upstream_gene_variant SKCM-US 17 56388294 56388294 single base substitution G A downstream_gene_variant SKCM-US 17 56388294 56388294 single base substitution G A missense_variant P1061L 3182C>T SKCM-US 17 56388294 56388294 single base substitution G A missense_variant P1121L 3362C>T SKCM-US 17 56388294 56388294 single base substitution G A upstream_gene_variant SKCM-US 17 56388315 56388315 single base substitution G A downstream_gene_variant SKCM-US 17 56388315 56388315 single base substitution G A missense_variant S1054F 3161C>T SKCM-US 17 56388315 56388315 single base substitution G A missense_variant S1114F 3341C>T SKCM-US 17 56388315 56388315 single base substitution G A upstream_gene_variant SKCM-US 17 56388494 56388494 single base substitution C T downstream_gene_variant SKCM-US 17 56388494 56388494 single base substitution C T synonymous_variant E1054E 3162G>A SKCM-US 17 56388494 56388494 single base substitution C T synonymous_variant E994E 2982G>A SKCM-US 17 56388494 56388494 single base substitution C T upstream_gene_variant SKCM-US 17 56388969 56388969 single base substitution C G exon_variant SKCM-US 17 56388969 56388969 single base substitution C G missense_variant R1015P 3044G>C SKCM-US 17 56388969 56388969 single base substitution C G missense_variant R955P 2864G>C SKCM-US 17 56388969 56388969 single base substitution C G upstream_gene_variant SKCM-US 17 56389042 56389042 single base substitution G A exon_variant SKCM-US 17 56389042 56389042 single base substitution G A missense_variant P931S 2791C>T SKCM-US 17 56389042 56389042 single base substitution G A missense_variant P991S 2971C>T SKCM-US 17 56389042 56389042 single base substitution G A upstream_gene_variant SKCM-US 17 56389063 56389063 single base substitution C T exon_variant SKCM-US 17 56389063 56389063 single base substitution C T missense_variant D924N 2770G>A SKCM-US 17 56389063 56389063 single base substitution C T missense_variant D984N 2950G>A SKCM-US 17 56389063 56389063 single base substitution C T upstream_gene_variant SKCM-US 17 56389437 56389437 single base substitution G A synonymous_variant L855L 2565C>T SKCM-US 17 56389437 56389437 single base substitution G A synonymous_variant L915L 2745C>T SKCM-US 17 56389437 56389437 single base substitution G A upstream_gene_variant SKCM-US 17 56393405 56393405 single base substitution C T missense_variant D633N 1897G>A SKCM-US 17 56393405 56393405 single base substitution C T missense_variant D693N 2077G>A SKCM-US 17 56393405 56393405 single base substitution C T upstream_gene_variant SKCM-US 17 56399757 56399757 single base substitution G A exon_variant SKCM-US 17 56399757 56399757 single base substitution G A missense_variant A385V 1154C>T SKCM-US 17 56399757 56399757 single base substitution G A missense_variant A445V 1334C>T SKCM-US 17 56400068 56400068 single base substitution G A exon_variant SKCM-US 17 56400068 56400068 single base substitution G A missense_variant R362C 1084C>T SKCM-US 17 56400068 56400068 single base substitution G A missense_variant R422C 1264C>T SKCM-US 17 56400098 56400098 single base substitution C T missense_variant G352R 1054G>A SKCM-US 17 56400098 56400098 single base substitution C T missense_variant G412R 1234G>A SKCM-US 17 56400098 56400098 single base substitution C T upstream_gene_variant SKCM-US 17 56403074 56403074 single base substitution C T intron_variant SKCM-US 17 56403074 56403074 single base substitution C T missense_variant V191M 571G>A SKCM-US 17 56403074 56403074 single base substitution C T upstream_gene_variant SKCM-US 17 56403666 56403666 single base substitution C T synonymous_variant T186T 558G>A SKCM-US 17 56403666 56403666 single base substitution C T upstream_gene_variant SKCM-US 17 56403732 56403732 single base substitution C T synonymous_variant R164R 492G>A SKCM-US 17 56403732 56403732 single base substitution C T upstream_gene_variant SKCM-US 17 56404061 56404061 single base substitution C T missense_variant E142K 424G>A SKCM-US 17 56404061 56404061 single base substitution C T upstream_gene_variant SKCM-US 17 56404969 56404969 single base substitution C T missense_variant E105K 313G>A SKCM-US 17 56404969 56404969 single base substitution C T upstream_gene_variant SKCM-US 17 56405038 56405038 single base substitution C T missense_variant A82T 244G>A SKCM-US 17 56405038 56405038 single base substitution C T upstream_gene_variant STAD-US 17 56382464 56382464 single base substitution G A downstream_gene_variant STAD-US 17 56382464 56382464 single base substitution G A exon_variant STAD-US 17 56382464 56382464 single base substitution G A synonymous_variant G1774G 5322C>T STAD-US 17 56382464 56382464 single base substitution G A synonymous_variant G1834G 5502C>T STAD-US 17 56382464 56382464 single base substitution G A synonymous_variant G255G 765C>T STAD-US 17 56382464 56382464 single base substitution G A synonymous_variant G98G 294C>T STAD-US 17 56382987 56382987 single base substitution G A downstream_gene_variant STAD-US 17 56382987 56382987 single base substitution G A exon_variant STAD-US 17 56382987 56382987 single base substitution G A missense_variant P1699S 5095C>T STAD-US 17 56382987 56382987 single base substitution G A missense_variant P1759S 5275C>T STAD-US 17 56382987 56382987 single base substitution G A missense_variant P180S 538C>T STAD-US 17 56382987 56382987 single base substitution G A missense_variant P23S 67C>T STAD-US 17 56382987 56382987 single base substitution G A upstream_gene_variant STAD-US 17 56385040 56385040 single base substitution C T downstream_gene_variant STAD-US 17 56385040 56385040 single base substitution C T exon_variant STAD-US 17 56385040 56385040 single base substitution C T missense_variant V1579M 4735G>A STAD-US 17 56385040 56385040 single base substitution C T missense_variant V1639M 4915G>A STAD-US 17 56385040 56385040 single base substitution C T missense_variant V202M 604G>A STAD-US 17 56385040 56385040 single base substitution C T missense_variant V69M 205G>A STAD-US 17 56385040 56385040 single base substitution C T upstream_gene_variant STAD-US 17 56385063 56385063 single base substitution A G downstream_gene_variant STAD-US 17 56385063 56385063 single base substitution A G exon_variant STAD-US 17 56385063 56385063 single base substitution A G missense_variant V1571A 4712T>C STAD-US 17 56385063 56385063 single base substitution A G missense_variant V1631A 4892T>C STAD-US 17 56385063 56385063 single base substitution A G missense_variant V194A 581T>C STAD-US 17 56385063 56385063 single base substitution A G missense_variant V61A 182T>C STAD-US 17 56385063 56385063 single base substitution A G upstream_gene_variant STAD-US 17 56386100 56386100 single base substitution G A downstream_gene_variant STAD-US 17 56386100 56386100 single base substitution G A intron_variant STAD-US 17 56386100 56386100 single base substitution G A synonymous_variant S1451S 4353C>T STAD-US 17 56386100 56386100 single base substitution G A synonymous_variant S1511S 4533C>T STAD-US 17 56386100 56386100 single base substitution G A upstream_gene_variant STAD-US 17 56386384 56386384 insertion of <=200bp - T downstream_gene_variant STAD-US 17 56386384 56386384 insertion of <=200bp - T frameshift_variant S1357K? STAD-US 17 56386384 56386384 insertion of <=200bp - T frameshift_variant S1417K? STAD-US 17 56386384 56386384 insertion of <=200bp - T intron_variant STAD-US 17 56386384 56386384 insertion of <=200bp - T upstream_gene_variant STAD-US 17 56386420 56386420 single base substitution G A downstream_gene_variant STAD-US 17 56386420 56386420 single base substitution G A intron_variant STAD-US 17 56386420 56386420 single base substitution G A missense_variant R1345W 4033C>T STAD-US 17 56386420 56386420 single base substitution G A missense_variant R1405W 4213C>T STAD-US 17 56386420 56386420 single base substitution G A upstream_gene_variant STAD-US 17 56386607 56386607 single base substitution G A downstream_gene_variant STAD-US 17 56386607 56386607 single base substitution G A intron_variant STAD-US 17 56386607 56386607 single base substitution G A synonymous_variant D1282D 3846C>T STAD-US 17 56386607 56386607 single base substitution G A synonymous_variant D1342D 4026C>T STAD-US 17 56386607 56386607 single base substitution G A upstream_gene_variant STAD-US 17 56386700 56386702 deletion of <=200bp CTC - downstream_gene_variant STAD-US 17 56386700 56386702 deletion of <=200bp CTC - inframe_deletion E1251 STAD-US 17 56386700 56386702 deletion of <=200bp CTC - inframe_deletion E1311 STAD-US 17 56386700 56386702 deletion of <=200bp CTC - intron_variant STAD-US 17 56386700 56386702 deletion of <=200bp CTC - upstream_gene_variant STAD-US 17 56388310 56388310 single base substitution G T downstream_gene_variant STAD-US 17 56388310 56388310 single base substitution G T missense_variant L1056I 3166C>A STAD-US 17 56388310 56388310 single base substitution G T missense_variant L1116I 3346C>A STAD-US 17 56388310 56388310 single base substitution G T upstream_gene_variant STAD-US 17 56389047 56389047 single base substitution G A exon_variant STAD-US 17 56389047 56389047 single base substitution G A missense_variant P929L 2786C>T STAD-US 17 56389047 56389047 single base substitution G A missense_variant P989L 2966C>T STAD-US 17 56389047 56389047 single base substitution G A upstream_gene_variant STAD-US 17 56389308 56389308 single base substitution G A exon_variant STAD-US 17 56389308 56389308 single base substitution G A synonymous_variant G898G 2694C>T STAD-US 17 56389308 56389308 single base substitution G A synonymous_variant G958G 2874C>T STAD-US 17 56389308 56389308 single base substitution G A upstream_gene_variant STAD-US 17 56389568 56389568 single base substitution G A missense_variant R812C 2434C>T STAD-US 17 56389568 56389568 single base substitution G A missense_variant R872C 2614C>T STAD-US 17 56389568 56389568 single base substitution G A upstream_gene_variant STAD-US 17 56389688 56389688 single base substitution G A stop_gained R772* 2314C>T STAD-US 17 56389688 56389688 single base substitution G A stop_gained R832* 2494C>T STAD-US 17 56389688 56389688 single base substitution G A upstream_gene_variant STAD-US 17 56389796 56389796 single base substitution G A missense_variant R736C 2206C>T STAD-US 17 56389796 56389796 single base substitution G A missense_variant R796C 2386C>T STAD-US 17 56389796 56389796 single base substitution G A upstream_gene_variant STAD-US 17 56389881 56389881 single base substitution A G synonymous_variant P707P 2121T>C STAD-US 17 56389881 56389881 single base substitution A G synonymous_variant P767P 2301T>C STAD-US 17 56389881 56389881 single base substitution A G upstream_gene_variant STAD-US 17 56389972 56389972 single base substitution C G missense_variant S677T 2030G>C STAD-US 17 56389972 56389972 single base substitution C G missense_variant S737T 2210G>C STAD-US 17 56389972 56389972 single base substitution C G upstream_gene_variant STAD-US 17 56393891 56393891 single base substitution G A missense_variant A568V 1703C>T STAD-US 17 56393891 56393891 single base substitution G A missense_variant A628V 1883C>T STAD-US 17 56393891 56393891 single base substitution G A upstream_gene_variant STAD-US 17 56396519 56396519 single base substitution A G downstream_gene_variant STAD-US 17 56396519 56396519 single base substitution A G missense_variant L484P 1451T>C STAD-US 17 56396519 56396519 single base substitution A G missense_variant L544P 1631T>C STAD-US 17 56399703 56399703 single base substitution C T exon_variant STAD-US 17 56399703 56399703 single base substitution C T missense_variant R403Q 1208G>A STAD-US 17 56399703 56399703 single base substitution C T missense_variant R463Q 1388G>A STAD-US 17 56399716 56399716 single base substitution G A exon_variant STAD-US 17 56399716 56399716 single base substitution G A missense_variant R399W 1195C>T STAD-US 17 56399716 56399716 single base substitution G A missense_variant R459W 1375C>T STAD-US 17 56400095 56400095 deletion of <=200bp C - frameshift_variant V353 STAD-US 17 56400095 56400095 deletion of <=200bp C - frameshift_variant V413 STAD-US 17 56400095 56400095 deletion of <=200bp C - upstream_gene_variant UCEC-US 17 56383751 56383751 single base substitution T C downstream_gene_variant UCEC-US 17 56383751 56383751 single base substitution T C exon_variant UCEC-US 17 56383751 56383751 single base substitution T C intron_variant UCEC-US 17 56383751 56383751 single base substitution T C missense_variant T1666A 4996A>G UCEC-US 17 56383751 56383751 single base substitution T C missense_variant T1726A 5176A>G UCEC-US 17 56383751 56383751 single base substitution T C splice_region_variant UCEC-US 17 56383751 56383751 single base substitution T C upstream_gene_variant UCEC-US 17 56385265 56385265 single base substitution G T downstream_gene_variant UCEC-US 17 56385265 56385265 single base substitution G T exon_variant UCEC-US 17 56385265 56385265 single base substitution G T missense_variant S1530Y 4589C>A UCEC-US 17 56385265 56385265 single base substitution G T missense_variant S153Y 458C>A UCEC-US 17 56385265 56385265 single base substitution G T missense_variant S1590Y 4769C>A UCEC-US 17 56385265 56385265 single base substitution G T missense_variant S20Y 59C>A UCEC-US 17 56385265 56385265 single base substitution G T upstream_gene_variant UCEC-US 17 56386381 56386381 single base substitution G A downstream_gene_variant UCEC-US 17 56386381 56386381 single base substitution G A intron_variant UCEC-US 17 56386381 56386381 single base substitution G A missense_variant R1358C 4072C>T UCEC-US 17 56386381 56386381 single base substitution G A missense_variant R1418C 4252C>T UCEC-US 17 56386381 56386381 single base substitution G A upstream_gene_variant UCEC-US 17 56386510 56386510 single base substitution G A downstream_gene_variant UCEC-US 17 56386510 56386510 single base substitution G A intron_variant UCEC-US 17 56386510 56386510 single base substitution G A stop_gained R1315* 3943C>T UCEC-US 17 56386510 56386510 single base substitution G A stop_gained R1375* 4123C>T UCEC-US 17 56386510 56386510 single base substitution G A upstream_gene_variant UCEC-US 17 56386646 56386646 single base substitution G A downstream_gene_variant UCEC-US 17 56386646 56386646 single base substitution G A intron_variant UCEC-US 17 56386646 56386646 single base substitution G A synonymous_variant L1269L 3807C>T UCEC-US 17 56386646 56386646 single base substitution G A synonymous_variant L1329L 3987C>T UCEC-US 17 56386646 56386646 single base substitution G A upstream_gene_variant UCEC-US 17 56387404 56387406 deletion of <=200bp TCC - disruptive_inframe_deletion EE114E UCEC-US 17 56387404 56387406 deletion of <=200bp TCC - disruptive_inframe_deletion EE1211E UCEC-US 17 56387404 56387406 deletion of <=200bp TCC - disruptive_inframe_deletion EE1271E UCEC-US 17 56387404 56387406 deletion of <=200bp TCC - downstream_gene_variant UCEC-US 17 56387404 56387406 deletion of <=200bp TCC - upstream_gene_variant UCEC-US 17 56387878 56387878 single base substitution C T downstream_gene_variant UCEC-US 17 56387878 56387878 single base substitution C T missense_variant A1172T 3514G>A UCEC-US 17 56387878 56387878 single base substitution C T missense_variant A1232T 3694G>A UCEC-US 17 56387878 56387878 single base substitution C T missense_variant A75T 223G>A UCEC-US 17 56387878 56387878 single base substitution C T upstream_gene_variant UCEC-US 17 56387932 56387932 single base substitution G A downstream_gene_variant UCEC-US 17 56387932 56387932 single base substitution G A missense_variant P1154S 3460C>T UCEC-US 17 56387932 56387932 single base substitution G A missense_variant P1214S 3640C>T UCEC-US 17 56387932 56387932 single base substitution G A missense_variant P57S 169C>T UCEC-US 17 56387932 56387932 single base substitution G A upstream_gene_variant UCEC-US 17 56388244 56388244 single base substitution C A downstream_gene_variant UCEC-US 17 56388244 56388244 single base substitution C A stop_gained E1078* 3232G>T UCEC-US 17 56388244 56388244 single base substitution C A stop_gained E1138* 3412G>T UCEC-US 17 56388244 56388244 single base substitution C A upstream_gene_variant UCEC-US 17 56388998 56388998 single base substitution G A exon_variant UCEC-US 17 56388998 56388998 single base substitution G A synonymous_variant I1005I 3015C>T UCEC-US 17 56388998 56388998 single base substitution G A synonymous_variant I945I 2835C>T UCEC-US 17 56388998 56388998 single base substitution G A upstream_gene_variant UCEC-US 17 56389719 56389719 single base substitution G A synonymous_variant H761H 2283C>T UCEC-US 17 56389719 56389719 single base substitution G A synonymous_variant H821H 2463C>T UCEC-US 17 56389719 56389719 single base substitution G A upstream_gene_variant UCEC-US 17 56390032 56390032 single base substitution C T missense_variant R657H 1970G>A UCEC-US 17 56390032 56390032 single base substitution C T missense_variant R717H 2150G>A UCEC-US 17 56390032 56390032 single base substitution C T upstream_gene_variant UCEC-US 17 56393433 56393433 single base substitution G A synonymous_variant G623G 1869C>T UCEC-US 17 56393433 56393433 single base substitution G A synonymous_variant G683G 2049C>T UCEC-US 17 56393433 56393433 single base substitution G A upstream_gene_variant UCEC-US 17 56400068 56400068 single base substitution G A exon_variant UCEC-US 17 56400068 56400068 single base substitution G A missense_variant R362C 1084C>T UCEC-US 17 56400068 56400068 single base substitution G A missense_variant R422C 1264C>T UCEC-US 17 56400891 56400891 single base substitution C T missense_variant D260N 778G>A UCEC-US 17 56400891 56400891 single base substitution C T missense_variant D320N 958G>A UCEC-US 17 56400891 56400891 single base substitution C T upstream_gene_variant UCEC-US 17 56403692 56403692 single base substitution C G missense_variant E178Q 532G>C UCEC-US 17 56403692 56403692 single base substitution C G upstream_gene_variant UCEC-US 17 56403726 56403726 single base substitution G A synonymous_variant N166N 498C>T UCEC-US 17 56403726 56403726 single base substitution G A upstream_gene_variant UCEC-US 17 56404079 56404079 single base substitution G A missense_variant R136C 406C>T UCEC-US 17 56404079 56404079 single base substitution G A upstream_gene_variant UCEC-US 17 56405069 56405069 single base substitution G A synonymous_variant P71P 213C>T UCEC-US 17 56405069 56405069 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AM-5820-01 COSM3755711 c.3901G>A p.D1301N Substitution - Missense 17:58309371-58309371 - TCGA-EE-A2MT-06 COSM3520069 c.5139C>T p.L1713L Substitution - coding silent 17:58306813-58306813 - DLD1 COSM4623630 c.1625G>T p.G542V Substitution - Missense 17:58319164-58319164 - CLL138 COSM1291618 c.270C>T p.D90D Substitution - coding silent 3:139518505-139518505 - TCGA-BH-A0BZ-01 COSM436994 c.2988G>C p.L996F Substitution - Missense 17:58311664-58311664 - TCGA-EE-A29M-06 COSM3520087 c.4063C>T p.R1355* Substitution - Nonsense 17:58309209-58309209 - S00938 COSM5663323 c.817_828del12 p.L273_Q276delLRLQ Deletion - In frame 17:58324925-58324936 - 388 COSM3720997 c.2435A>G p.E812G Substitution - Missense 17:58312386-58312386 - T3152 COSM4666442 c.4765G>A p.G1589S Substitution - Missense 17:58307908-58307908 - TCGA-02-0033-01 COSM2148969 c.5400G>T p.V1800V Substitution - coding silent 17:58305420-58305420 - UM-SCC-47 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - C086 COSM5527472 c.3402C>T p.S1134S Substitution - coding silent 17:58310893-58310893 - YUJUBE COSM4798258 c.2858G>A p.G953E Substitution - Missense 17:58311963-58311963 - CHC892T COSM4798163 c.1237G>A p.V413M Substitution - Missense 17:58322734-58322734 - TCGA-AM-5821-01 COSM3755709 c.4344G>A p.E1448E Substitution - coding silent 17:58308928-58308928 - U373 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - T155 COSM1177149 c.469G>T p.E157* Substitution - Nonsense 17:58326394-58326394 - 2492721 COSM5722654 c.2339C>T p.P780L Substitution - Missense 17:58312482-58312482 - CSCC-55-T COSM4496813 c.4834C>T p.P1612S Substitution - Missense 17:58307760-58307760 - CHC1704T COSM4804303 c.2644G>T p.G882* Substitution - Nonsense 17:58312177-58312177 - 10-104 COSM3736661 c.355G>A p.E119K Substitution - Missense 3:139517680-139517680 - 475 COSM4438368 c.1387C>T p.R463W Substitution - Missense 17:58322343-58322343 - TCGA-ER-A19D-06 COSM3520083 c.4193G>A p.G1398E Substitution - Missense 17:58309079-58309079 - Au5 COSM4892938 c.3362C>T p.P1121L Substitution - Missense 17:58310933-58310933 - 2492703 COSM5599150 c.456C>T p.F152F Substitution - coding silent 17:58326407-58326407 - LUAD-S01331 COSM396452 c.1244A>T p.Q415L Substitution - Missense 17:58322727-58322727 - TCGA-A6-5659-01 COSM1384725 c.2346G>A p.P782P Substitution - coding silent 17:58312475-58312475 - UPCI:SCC090 COSM3736767 c.4250_4251insA p.S1417fs*40 Insertion - Frameshift 17:58309021-58309022 - TCGA-BP-5173-01 COSM473103 c.1717G>A p.G573S Substitution - Missense 17:58318435-58318435 - UM-SCC-17B COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - TCGA-A5-A0GH-01 COSM981796 c.4252C>T p.R1418C Substitution - Missense 17:58309020-58309020 - PCSI_0090_Pa_X COSM3378266 c.4581C>A p.A1527A Substitution - coding silent 17:58308691-58308691 - TCGA-FS-A4F0-06 COSM3520079 c.4324C>T p.R1442* Substitution - Nonsense 17:58308948-58308948 - TCGA-BR-8483-01 COSM460279 c.1375C>T p.R459W Substitution - Missense 17:58322355-58322355 - HCC73T COSM3717493 c.3412G>C p.E1138Q Substitution - Missense 17:58310883-58310883 - TCGA-CC-A7IH-01 COSM4923927 c.4996A>G p.K1666E Substitution - Missense 17:58306956-58306956 - TCGA-EE-A2MC-06 COSM3520085 c.4064G>A p.R1355Q Substitution - Missense 17:58309208-58309208 - TCGA-BR-7707-01 COSM4068149 c.2210G>C p.S737T Substitution - Missense 17:58312611-58312611 - TCGA-G4-6586-01 COSM1384729 c.1343G>A p.R448Q Substitution - Missense 17:58322387-58322387 - CHC433T COSM250855 c.5552G>T p.R1851M Substitution - Missense 17:58304392-58304392 - COLO201 COSM4621311 c.4744G>A p.G1582R Substitution - Missense 17:58307929-58307929 - BICR_22 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - TCGA-66-2789-01 COSM706687 c.2977C>T p.P993S Substitution - Missense 17:58311675-58311675 - UM-SCC-11B COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - PCSI_0083_Pa_X COSM3380420 c.92G>A p.R31H Substitution - Missense 3:139538941-139538941 - TCGA-AP-A056-01 COSM981808 c.3694G>A p.A1232T Substitution - Missense 17:58310517-58310517 - TCGA-EE-A2MR-06 COSM3520081 c.4235C>T p.P1412L Substitution - Missense 17:58309037-58309037 - TCGA-AN-A046-01 COSM3846374 c.129C>T p.I43I Substitution - coding silent 3:139538904-139538904 - BHY COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - WSU-HN13 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - T3240 COSM4666452 c.2036C>T p.P679L Substitution - Missense 17:58316085-58316085 - ESCC_BICR_060T COSM5434954 c.1245G>T p.Q415H Substitution - Missense 17:58322726-58322726 - AOCS-112-1-2 COSM3983577 c.2263G>A p.G755R Substitution - Missense 17:58312558-58312558 - 8033610 COSM3772978 c.4035G>C p.E1345D Substitution - Missense 17:58309237-58309237 - K-562 COSM1683523 c.4247_4248insAA p.S1417fs*39 Insertion - Frameshift 17:58309024-58309025 - HCC32T COSM3717495 c.2945C>A p.P982H Substitution - Missense 17:58311707-58311707 - PT08_1 COSM5893909 c.3884G>A p.G1295E Substitution - Missense 17:58309974-58309974 - TCGA-EE-A2MJ-06 COSM3520063 c.5453G>A p.R1818K Substitution - Missense 17:58305152-58305152 - ZZUFHECRKL-G045T COSM5437926 c.2451A>T p.Q817H Substitution - Missense 17:58312370-58312370 - 2492720 COSM5722656 c.2323G>A p.E775K Substitution - Missense 17:58312498-58312498 - TCGA-G4-6588-01 COSM1384719 c.3300G>A p.A1100A Substitution - coding silent 17:58310995-58310995 - T3503 COSM1384705 c.4249_4250insA p.S1417fs*40 Insertion - Frameshift 17:58309022-58309023 - WSU-HN13 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - TCGA-BR-8382-01 COSM3195380 c.5502C>T p.G1834G Substitution - coding silent 17:58305103-58305103 - T1180 COSM4666460 c.702G>A p.L234L Substitution - coding silent 17:58325582-58325582 - CHC1207T COSM4799960 c.1539G>A p.E513E Substitution - coding silent 17:58319250-58319250 - TCGA-D3-A51G-06 COSM3520111 c.571G>A p.V191M Substitution - Missense 17:58325713-58325713 - BHY COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - BK0025 COSM4186511 c.2357G>T p.G786V Substitution - Missense 17:58312464-58312464 - T578 COSM4666448 c.2779A>C p.T927P Substitution - Missense 17:58312042-58312042 - NOKSI COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - CAL27 COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - AOCS-088-1-0 COSM3983575 c.4038G>A p.E1346E Substitution - coding silent 17:58309234-58309234 - Detroit_562 COSM4593904 c.4242G>C p.K1414N Substitution - Missense 17:58309030-58309030 - TCGA-AM-5820-01 COSM3755705 c.5489G>A p.G1830E Substitution - Missense 17:58305116-58305116 - TCGA-AX-A060-01 COSM981823 c.2150G>A p.R717H Substitution - Missense 17:58312671-58312671 - CSCC-29-T COSM4498459 c.5208C>T p.P1736P Substitution - coding silent 17:58306358-58306358 - T3091 COSM4666464 c.321G>T p.E107D Substitution - Missense 17:58327600-58327600 - 2492702 COSM5599150 c.456C>T p.F152F Substitution - coding silent 17:58326407-58326407 - TCGA-A2-A04U-01 COSM436998 c.523C>T p.R175C Substitution - Missense 17:58326340-58326340 - D28 COSM5544543 c.2991C>T p.I997I Substitution - coding silent 17:58311661-58311661 - PD11338a COSM5767053 c.2517G>A p.A839A Substitution - coding silent 17:58312304-58312304 - TCGA-ER-A19G-06 COSM3520113 c.492G>A p.R164R Substitution - coding silent 17:58326371-58326371 - ACHN COSM1683521 c.4247_4248insA p.S1417fs*40 Insertion - Frameshift 17:58309024-58309025 - CSCC-46-T COSM4480062 c.2383C>T p.R795C Substitution - Missense 17:58312438-58312438 - TCGA-FS-A1ZK-06 COSM3520075 c.4565C>T p.P1522L Substitution - Missense 17:58308707-58308707 - PTC-77C COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - TCGA-22-4591-01 COSM706685 c.2776A>G p.S926G Substitution - Missense 17:58312045-58312045 - TCGA-BR-7707-01 COSM4068147 c.2301T>C p.P767P Substitution - coding silent 17:58312520-58312520 - 435 COSM4433903 c.85G>A p.A29T Substitution - Missense 3:139538948-139538948 - 2492722 COSM5722654 c.2339C>T p.P780L Substitution - Missense 17:58312482-58312482 - TCGA-BR-6565-01 COSM4113994 c.393C>T p.F131F Substitution - coding silent 3:139517642-139517642 - TCGA-BS-A0UV-01 COSM981790 c.5176A>G p.T1726A Substitution - Missense 17:58306390-58306390 - WA16 COSM238082 c.138C>T p.D46D Substitution - coding silent 3:139538895-139538895 - TCGA-DB-5274-01 COSM3974192 c.309G>A p.E103E Substitution - coding silent 3:139518466-139518466 - ME011T COSM224528 c.1442G>A p.R481K Substitution - Missense 17:58320562-58320562 - TCGA-CG-5723-01 COSM4068143 c.2614C>T p.R872C Substitution - Missense 17:58312207-58312207 - YUMOKI COSM5386894 c.950C>T p.P317L Substitution - Missense 17:58323538-58323538 - LIM2551 COSM4644091 c.4407G>A p.R1469R Substitution - coding silent 17:58308865-58308865 - T3479 COSM4666446 c.2988G>A p.L996L Substitution - coding silent 17:58311664-58311664 - TCGA-C8-A26W-01 COSM1484677 c.10G>A p.D4N Substitution - Missense 3:139539523-139539523 - Pat_14_B COSM5853083 c.3991A>G p.S1331G Substitution - Missense 17:58309281-58309281 - TCGA-G4-6323-01 COSM3691710 c.2197G>T p.D733Y Substitution - Missense 17:58312624-58312624 - BICR_22 COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - Gp2D COSM3195416 c.4496T>A p.I1499N Substitution - Missense 17:58308776-58308776 - LUAD-2GUGK COSM400530 c.3363C>A p.P1121P Substitution - coding silent 17:58310932-58310932 - KYSE-510 COSM3195510 c.2121G>A p.R707R Substitution - coding silent 17:58312700-58312700 - OVCAR-5 COSM1683523 c.4247_4248insAA p.S1417fs*39 Insertion - Frameshift 17:58309024-58309025 - UM-SCC-2 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - PT52 COSM5940658 c.3472G>A p.A1158T Substitution - Missense 17:58310739-58310739 - TCGA-BQ-7045-01 COSM3989187 c.4327C>A p.L1443M Substitution - Missense 17:58308945-58308945 - TCGA-FW-A3R5-06 COSM3915028 c.299G>A p.G100D Substitution - Missense 3:139518476-139518476 - 1T COSM107971 c.2182C>T p.P728S Substitution - Missense 17:58312639-58312639 - HX13T COSM1610534 c.1653delC p.C552fs*80 Deletion - Frameshift 17:58319136-58319136 - 117-01-1TD COSM145147 c.1801G>T p.A601S Substitution - Missense 17:58318351-58318351 - TCGA-FW-A3R5-06 COSM3890045 c.4348G>A p.G1450S Substitution - Missense 17:58308924-58308924 - TCGA-F5-6814-01 COSM3421732 c.1047G>T p.K349N Substitution - Missense 17:58323355-58323355 - TCGA-AM-5820-01 COSM3755717 c.258C>T p.S86S Substitution - coding silent 17:58327663-58327663 - DLD1 COSM4623628 c.2004G>T p.E668D Substitution - Missense 17:58316117-58316117 - TCGA-EB-A42Z-01 COSM3588082 c.307G>A p.E103K Substitution - Missense 3:139518468-139518468 - TCGA-BR-4370-01 COSM4068155 c.1388G>A p.R463Q Substitution - Missense 17:58322342-58322342 - TCGA-BS-A0TA-01 COSM1039118 c.407G>A p.*136* Substitution - coding silent 3:139517628-139517628 - 587338 COSM1185082 c.1682G>A p.R561Q Substitution - Missense 17:58319107-58319107 - TCGA-FS-A1ZA-06 COSM3520117 c.313G>A p.E105K Substitution - Missense 17:58327608-58327608 - 587350 COSM1185086 c.334-2A>G p.? Unknown 17:58326792-58326792 - TCGA-AM-5820-01 COSM3691708 c.3173G>A p.R1058H Substitution - Missense 17:58311122-58311122 - YUKAT COSM5386888 c.4015G>A p.E1339K Substitution - Missense 17:58309257-58309257 - SC_9094 COSM3388045 c.5198C>T p.P1733L Substitution - Missense 17:58306368-58306368 - TCGA-AX-A1C8-01 COSM981838 c.532G>C p.E178Q Substitution - Missense 17:58326331-58326331 - CSCC-11-T COSM4548768 c.4567G>A p.G1523R Substitution - Missense 17:58308705-58308705 - UM-SCC-47 COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - LC_C9 COSM1189518 c.4699G>T p.A1567S Substitution - Missense 17:58308573-58308573 - A498 COSM1683270 c.4247_4248insCA p.S1417fs*39 Insertion - Frameshift 17:58309024-58309025 - TCGA-EE-A3AF-06 COSM3520103 c.2745C>T p.L915L Substitution - coding silent 17:58312076-58312076 - 2492720 COSM5722658 c.1513G>A p.E505K Substitution - Missense 17:58319276-58319276 - CHC1704T COSM4804303 c.2644G>T p.G882* Substitution - Nonsense 17:58312177-58312177 - RK285_C01 COSM4778919 c.2015A>G p.E672G Substitution - Missense 17:58316106-58316106 - T1154 COSM4666444 c.4409T>C p.L1470P Substitution - Missense 17:58308863-58308863 - 587342 COSM1223414 c.40A>G p.N14D Substitution - Missense 3:139539493-139539493 - UM-SCC-2 COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - TCGA-G4-6588-01 COSM1384703 c.4375A>G p.R1459G Substitution - Missense 17:58308897-58308897 - MN-1133 COSM1578908 c.152T>G p.I51S Substitution - Missense 3:139538881-139538881 - TCGA-AA-3527-01 COSM291836 c.371G>A p.G124D Substitution - Missense 3:139517664-139517664 - 2492723 COSM5722656 c.2323G>A p.E775K Substitution - Missense 17:58312498-58312498 - TCGA-27-2527-01 COSM3403049 c.2252G>C p.G751A Substitution - Missense 17:58312569-58312569 - LUAD-S01354 COSM385868 c.3081+1G>T p.? Unknown 17:58311570-58311570 - UPCI:SCC090 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - 6115114 COSM5551681 c.4905C>G p.D1635E Substitution - Missense 17:58307689-58307689 - LN229 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - T3225 COSM4666458 c.947C>T p.T316M Substitution - Missense 17:58323541-58323541 - HCC32 COSM3717495 c.2945C>A p.P982H Substitution - Missense 17:58311707-58311707 - YUPTER COSM4113998 c.91C>T p.R31C Substitution - Missense 3:139538942-139538942 - TCGA-HU-A4GT-01 COSM1721548 c.2874C>T p.G958G Substitution - coding silent 17:58311947-58311947 - PTC-7C COSM4130439 c.5454G>A p.R1818R Substitution - coding silent 17:58305151-58305151 - TCGA-D1-A103-01 COSM981826 c.2049C>T p.G683G Substitution - coding silent 17:58316072-58316072 - 2011-2344:2012-333-T COSM4605503 c.4972C>G p.Q1658E Substitution - Missense 17:58307622-58307622 - HCC107T COSM5813503 c.5079G>T p.V1693V Substitution - coding silent 17:58306873-58306873 - TCGA-BC-A112-01 COSM4936397 c.2495G>A p.R832Q Substitution - Missense 17:58312326-58312326 - ORL-48 COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - OSCC-GB_00080111 COSM3712400 c.3256C>T p.R1086* Substitution - Nonsense 17:58311039-58311039 - AOCS-064-1-6 COSM3983579 c.410G>T p.C137F Substitution - Missense 17:58326714-58326714 - TCGA-AX-A1C8-01 COSM981835 c.958G>A p.D320N Substitution - Missense 17:58323530-58323530 - 219 COSM4425026 c.4489A>G p.I1497V Substitution - Missense 17:58308783-58308783 - TCGA-GN-A266-06 COSM3588087 c.208G>A p.E70K Substitution - Missense 3:139538825-139538825 - CRC-23T COSM5482579 c.5303C>G p.S1768C Substitution - Missense 17:58305598-58305598 - YUDEXA COSM1710530 c.2950G>A p.D984N Substitution - Missense 17:58311702-58311702 - TCGA-02-0033 COSM2148969 c.5400G>T p.V1800V Substitution - coding silent 17:58305420-58305420 - BD49T COSM5498269 c.2582C>T p.A861V Substitution - Missense 17:58312239-58312239 - SNUH_G73_S1 COSM3755705 c.5489G>A p.G1830E Substitution - Missense 17:58305116-58305116 - WSU-HN30 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - CHC433T COSM250855 c.5552G>T p.R1851M Substitution - Missense 17:58304392-58304392 - TCGA-BP-5173-01 COSM473099 c.1718G>A p.G573D Substitution - Missense 17:58318434-58318434 - YURTHE COSM1710526 c.3317C>T p.S1106F Substitution - Missense 17:58310978-58310978 - WSU-HN12 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - DLD1 COSM191562 c.1053C>T p.C351C Substitution - coding silent 17:58323349-58323349 - TCGA-KK-A59V-01 COSM4878316 c.4700C>T p.A1567V Substitution - Missense 17:58308572-58308572 - TCGA-AM-5820-01 COSM436986 c.4515T>C p.D1505D Substitution - coding silent 17:58308757-58308757 - TCGA-AM-5820-01 COSM3755715 c.1541A>G p.Q514R Substitution - Missense 17:58319248-58319248 - 2492702 COSM5599148 c.4373C>G p.P1458R Substitution - Missense 17:58308899-58308899 - S00936 COSM309568 c.4450C>T p.P1484S Substitution - Missense 17:58308822-58308822 - TCGA-43-5668-01 COSM728137 c.20G>T p.G7V Substitution - Missense 3:139539513-139539513 - TCGA-EE-A182-06 COSM3520101 c.2971C>T p.P991S Substitution - Missense 17:58311681-58311681 - CSCC-58-T COSM4545146 c.3715G>C p.E1239Q Substitution - Missense 17:58310143-58310143 - UM-SCC-4 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - TCGA-D5-6927-01 COSM1384707 c.4077G>A p.P1359P Substitution - coding silent 17:58309195-58309195 - T2197 COSM4666450 c.2438C>T p.P813L Substitution - Missense 17:58312383-58312383 - LUAD-B01145 COSM333287 c.2464G>A p.G822S Substitution - Missense 17:58312357-58312357 - 408 COSM4430424 c.4644C>G p.P1548P Substitution - coding silent 17:58308628-58308628 - BD152T COSM5506504 c.1578C>T p.R526R Substitution - coding silent 17:58319211-58319211 - TCGA-AG-A020-01 COSM5073794 c.2797T>C p.C933R Substitution - Missense 17:58312024-58312024 - U373 COSM5713314 c.4025_4026insAGAGGAGGA p.E1341_D1342insEEE Insertion - In frame 17:58309246-58309247 - TCGA-AA-3663-01 COSM1384713 c.3649G>A p.E1217K Substitution - Missense 17:58310562-58310562 - NOKSI COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - BRC49 COSM5028329 c.4693C>T p.R1565C Substitution - Missense 17:58308579-58308579 - PT48 COSM5933529 c.333+5G>A p.? Unknown 17:58327583-58327583 - TCGA-FS-A1ZK-06 COSM3520095 c.3341C>T p.S1114F Substitution - Missense 17:58310954-58310954 - EGC15 COSM5055630 c.5415C>T p.D1805D Substitution - coding silent 17:58305405-58305405 - I2L-P7-Tumor-Organoid COSM5367919 c.5437_5438insG p.E1813fs*20 Insertion - Frameshift 17:58305167-58305168 - 7T COSM3712398 c.5005G>A p.D1669N Substitution - Missense 17:58306947-58306947 - PCSI_0263_Pa_P_526 COSM4962405 c.5023G>A p.E1675K Substitution - Missense 17:58306929-58306929 - PD11388a COSM5779742 c.286T>A p.C96S Substitution - Missense 3:139518489-139518489 - I2L-P7-Tumor-Organoid COSM5364343 c.1621T>G p.C541G Substitution - Missense 17:58319168-58319168 - T4 COSM3195578 c.198C>T p.D66D Substitution - coding silent 17:58327723-58327723 - TCGA-HU-A4G8-01 COSM4068133 c.4533C>T p.S1511S Substitution - coding silent 17:58308739-58308739 - TCGA-DK-A1AC-01 COSM1308663 c.27G>A p.W9* Substitution - Nonsense 3:139539506-139539506 - CHOL47 COSM1742862 c.2287A>C p.S763R Substitution - Missense 17:58312534-58312534 - SCC-15 COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - 12 COSM5732695 c.2675G>A p.R892Q Substitution - Missense 17:58312146-58312146 - ESCC_54 COSM5631473 c.1025C>T p.S342L Substitution - Missense 17:58323377-58323377 - SCC-15 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - UPCI:SCC090 COSM4593904 c.4242G>C p.K1414N Substitution - Missense 17:58309030-58309030 - CHC304T COSM4949690 c.111_116delGAAGCC p.K38_P39delKP Deletion - In frame 3:139538917-139538922 - LAU165 COSM231865 c.203G>A p.S68N Substitution - Missense 17:58327718-58327718 - T578 COSM4720813 c.51C>T p.F17F Substitution - coding silent 3:139539482-139539482 - 478 COSM3720999 c.348G>C p.M116I Substitution - Missense 17:58326776-58326776 - HCC120 COSM3717491 c.5181C>A p.A1727A Substitution - coding silent 17:58306385-58306385 - TCGA-CG-4442-01 COSM4068127 c.5275C>T p.P1759S Substitution - Missense 17:58305626-58305626 - TCGA-AG-A002-01 COSM191549 c.4879G>A p.V1627I Substitution - Missense 17:58307715-58307715 - TCGA-FW-A3R5-06 COSM3890057 c.3630C>T p.A1210A Substitution - coding silent 17:58310581-58310581 - CSCC-40-T COSM4494960 c.4431C>T p.S1477S Substitution - coding silent 17:58308841-58308841 - TCGA-FW-A3R5-06 COSM981829 c.1264C>T p.R422C Substitution - Missense 17:58322707-58322707 - 27 COSM5748783 c.130G>A p.V44M Substitution - Missense 3:139538903-139538903 - SCC-25 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - TCGA-CD-A48A-01 COSM4068139 c.3346C>A p.L1116I Substitution - Missense 17:58310949-58310949 - CHC304T COSM4949690 c.111_116delGAAGCC p.K38_P39delKP Deletion - In frame 3:139538917-139538922 - S48_pre COSM5574442 c.1919C>T p.S640F Substitution - Missense 17:58316494-58316494 - CHC892T COSM4798258 c.2858G>A p.G953E Substitution - Missense 17:58311963-58311963 - CHEWS020 COSM4579911 c.4036_4038delGAG p.E1346delE Deletion - In frame 17:58309234-58309236 - YUOTHO COSM5386892 c.2913C>T p.F971F Substitution - coding silent 17:58311908-58311908 - S02333 COSM4386906 c.4948G>T p.E1650* Substitution - Nonsense 17:58307646-58307646 - 93VU147T COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - SCC-25 COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - 587336 COSM1185080 c.4663T>C p.W1555R Substitution - Missense 17:58308609-58308609 - CHC1207T COSM4799960 c.1539G>A p.E513E Substitution - coding silent 17:58319250-58319250 - TCGA-AA-3710-01 COSM293513 c.1483G>A p.D495N Substitution - Missense 17:58320120-58320120 - TCGA-BR-A4CQ-01 COSM4068135 c.4213C>T p.R1405W Substitution - Missense 17:58309059-58309059 - S48_post COSM5574442 c.1919C>T p.S640F Substitution - Missense 17:58316494-58316494 - ESCC_169 COSM5648903 c.3436G>A p.D1146N Substitution - Missense 17:58310859-58310859 - 108 COSM5016780 c.103C>T p.P35S Substitution - Missense 17:58327818-58327818 - TCGA-EI-6882-01 COSM3421730 c.4926G>A p.S1642S Substitution - coding silent 17:58307668-58307668 - 6277 COSM1644443 c.5089G>A p.A1697T Substitution - Missense 17:58306863-58306863 - CHC433T COSM250855 c.5552G>T p.R1851M Substitution - Missense 17:58304392-58304392 - ESCC_74 COSM4269337 c.1576C>T p.R526C Substitution - Missense 17:58319213-58319213 - ESCC_25 COSM5626708 c.3238C>G p.P1080A Substitution - Missense 17:58311057-58311057 - HN16PT COSM98310 c.4439G>A p.R1480Q Substitution - Missense 17:58308833-58308833 - MO_1015 COSM5566127 c.1376G>A p.R459Q Substitution - Missense 17:58322354-58322354 - NCI-H460 COSM1683523 c.4247_4248insAA p.S1417fs*39 Insertion - Frameshift 17:58309024-58309025 - TCGA-FG-6692-01 COSM3970193 c.717G>A p.R239R Substitution - coding silent 17:58325567-58325567 - PD9845a COSM5799212 c.1697A>G p.K566R Substitution - Missense 17:58319092-58319092 - 2492722 COSM5722658 c.1513G>A p.E505K Substitution - Missense 17:58319276-58319276 - 2_RESISTANT COSM981805 c.3813_3815delGGA p.E1274delE Deletion - In frame 17:58310043-58310045 - LAU618 COSM233887 c.1422+8G>T p.? Unknown 17:58322300-58322300 - ccRCC-64 COSM1659824 c.651C>A p.L217L Substitution - coding silent 17:58325633-58325633 - TCGA-Q1-A5R2-01 COSM4850605 c.1407C>T p.V469V Substitution - coding silent 17:58322323-58322323 - 8T COSM3712400 c.3256C>T p.R1086* Substitution - Nonsense 17:58311039-58311039 - 8048567 COSM3772980 c.4011A>G p.E1337E Substitution - coding silent 17:58309261-58309261 - HN27PT COSM98198 c.3671C>G p.P1224R Substitution - Missense 17:58310540-58310540 - 2_RESISTANT COSM1721548 c.2874C>T p.G958G Substitution - coding silent 17:58311947-58311947 - Pat_16_A COSM5055634 c.3599C>T p.P1200L Substitution - Missense 17:58310612-58310612 - HL-60 COSM1683521 c.4247_4248insA p.S1417fs*40 Insertion - Frameshift 17:58309024-58309025 - 01-P8014 COSM3195380 c.5502C>T p.G1834G Substitution - coding silent 17:58305103-58305103 - WSU-HN6 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - TCGA-AN-A0FV-01 COSM436996 c.1839C>T p.I613I Substitution - coding silent 17:58318313-58318313 - 2_PRE-TREATMENT COSM1721548 c.2874C>T p.G958G Substitution - coding silent 17:58311947-58311947 - 93VU147T COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - Patient5 COSM5731763 c.4G>C p.E2Q Substitution - Missense 17:58327917-58327917 - KPOPBR-34-T COSM5963305 c.5212C>T p.R1738C Substitution - Missense 17:58306354-58306354 - TCGA-EE-A29L-06 COSM3520067 c.5334G>A p.Q1778Q Substitution - coding silent 17:58305567-58305567 - sysucc-1370T COSM1185082 c.1682G>A p.R561Q Substitution - Missense 17:58319107-58319107 - TCGA-D1-A16X-01 COSM981817 c.3015C>T p.I1005I Substitution - coding silent 17:58311637-58311637 - Au2 COSM5599150 c.456C>T p.F152F Substitution - coding silent 17:58326407-58326407 - TCGA-AK-3460-01 COSM98310 c.4439G>A p.R1480Q Substitution - Missense 17:58308833-58308833 - 93VU147T COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - TCGA-FW-A3R5-06 COSM3890055 c.3781C>T p.Q1261* Substitution - Nonsense 17:58310077-58310077 - TCGA-AR-A1AR-01 COSM1384705 c.4249_4250insA p.S1417fs*40 Insertion - Frameshift 17:58309022-58309023 - UD-SCC-2 COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - TCGA-CM-6171-01 COSM1384717 c.3432C>T p.H1144H Substitution - coding silent 17:58310863-58310863 - KYSE-150 COSM4439328 c.5191G>A p.G1731R Substitution - Missense 17:58306375-58306375 - TCGA-B9-A44B-01 COSM3989185 c.5519C>T p.P1840L Substitution - Missense 17:58305086-58305086 - TCGA-FI-A2EW-01 COSM1039119 c.74-4G>A p.? Unknown 3:139538963-139538963 - TCGA-AM-5820-01 COSM436988 c.4275A>T p.R1425R Substitution - coding silent 17:58308997-58308997 - CRC-17T COSM3755707 c.5183A>G p.H1728R Substitution - Missense 17:58306383-58306383 - ODG4 COSM5731252 c.2155T>C p.S719P Substitution - Missense 17:58312666-58312666 - TCGA-BS-A0UM-01 COSM981850 c.213C>T p.P71P Substitution - coding silent 17:58327708-58327708 - CHOL15 COSM1742860 c.1957G>A p.A653T Substitution - Missense 17:58316456-58316456 - 46M COSM5587312 c.1512C>T p.L504L Substitution - coding silent 17:58319277-58319277 - CSCC-20-T COSM4547167 c.230G>A p.G77D Substitution - Missense 3:139538803-139538803 - C086 COSM5527470 c.2548C>T p.L850L Substitution - coding silent 17:58312273-58312273 - TCGA-BR-A4CQ-01 COSM4068153 c.1631T>C p.L544P Substitution - Missense 17:58319158-58319158 - HCT-116 COSM1683270 c.4247_4248insCA p.S1417fs*39 Insertion - Frameshift 17:58309024-58309025 - HT115 COSM3195514 c.2016G>T p.E672D Substitution - Missense 17:58316105-58316105 - TCGA-DK-A1AC-01 COSM1303106 c.3064T>G p.Y1022D Substitution - Missense 17:58311588-58311588 - UM-SCC-4 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - pfg008T COSM4765796 c.3816_3817insGGA p.E1272_E1273insG Insertion - In frame 17:58310041-58310042 - LUAD-S01467 COSM399352 c.2996G>T p.S999I Substitution - Missense 17:58311656-58311656 - 2492700 COSM5599150 c.456C>T p.F152F Substitution - coding silent 17:58326407-58326407 - CSCC-7-T COSM4494956 c.4430C>T p.S1477F Substitution - Missense 17:58308842-58308842 - TCGA-EE-A3AA-06 COSM3588084 c.272G>A p.G91E Substitution - Missense 3:139518503-139518503 - UM-SCC-17B COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - Au10 COSM5598060 c.4143C>T p.P1381P Substitution - coding silent 17:58309129-58309129 - YUKAT COSM5386890 c.3963C>T p.L1321L Substitution - coding silent 17:58309309-58309309 - I2L-P19Ta-Tumor-Biopsy COSM5364025 c.4964G>A p.R1655Q Substitution - Missense 17:58307630-58307630 - UD-SCC-2 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - TCGA-P5-A5EX-01 COSM4420696 c.3035A>G p.N1012S Substitution - Missense 17:58311617-58311617 - AOCS-112-1-2 COSM3983573 c.4183G>A p.D1395N Substitution - Missense 17:58309089-58309089 - PTC-14C COSM4130445 c.1487C>A p.S496Y Substitution - Missense 17:58320116-58320116 - CHC892T COSM4798258 c.2858G>A p.G953E Substitution - Missense 17:58311963-58311963 - UM-SCC-47 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - pfg212T COSM4755826 c.538G>A p.A180T Substitution - Missense 17:58326325-58326325 - TCGA-EE-A3JD-06 COSM4397655 c.400G>A p.V134M Substitution - Missense 3:139517635-139517635 - TCGA-EE-A2A2-06 COSM3520077 c.4419C>T p.S1473S Substitution - coding silent 17:58308853-58308853 - TCGA-DB-A4XE-01 COSM3970191 c.1994A>G p.N665S Substitution - Missense 17:58316127-58316127 - HCT8 COSM191562 c.1053C>T p.C351C Substitution - coding silent 17:58323349-58323349 - TCGA-FD-A3SS-01 COSM3795861 c.126C>T p.I42I Substitution - coding silent 17:58327795-58327795 - C0038T COSM4151688 c.1139C>T p.A380V Substitution - Missense 17:58323005-58323005 - UM-SCC-2 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - TCGA-22-4607-01 COSM706691 c.4234C>G p.P1412A Substitution - Missense 17:58309038-58309038 - UPCI:SCC090 COSM4602904 c.4026_4027insAGAGGAGGA p.D1342_E1343insRGG Insertion - In frame 17:58309245-58309246 - K-562 COSM1679948 c.2494C>T p.R832* Substitution - Nonsense 17:58312327-58312327 - UM-SCC-4 COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - T2941 COSM3795859 c.4214G>A p.R1405Q Substitution - Missense 17:58309058-58309058 - TCGA-BH-A0DQ-01 COSM1384705 c.4249_4250insA p.S1417fs*40 Insertion - Frameshift 17:58309022-58309023 - CCRF-CEM COSM1683521 c.4247_4248insA p.S1417fs*40 Insertion - Frameshift 17:58309024-58309025 - 543 COSM5612527 c.118G>C p.D40H Substitution - Missense 3:139538915-139538915 - CAL27 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - WSU-HN6 COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - PT37 COSM5921099 c.5330C>T p.P1777L Substitution - Missense 17:58305571-58305571 - TCGA-BS-A0UJ-01 COSM981811 c.3640C>T p.P1214S Substitution - Missense 17:58310571-58310571 - TCGA-AY-5543-01 COSM981844 c.406C>T p.R136C Substitution - Missense 17:58326718-58326718 - TCGA-AC-A5XS-01 COSM4391054 c.4153G>C p.E1385Q Substitution - Missense 17:58309119-58309119 - TCGA-D1-A17Q-01 COSM981814 c.3412G>T p.E1138* Substitution - Nonsense 17:58310883-58310883 - Gp5D COSM3195416 c.4496T>A p.I1499N Substitution - Missense 17:58308776-58308776 - UD-SCC-2 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - PCSI_0341_Pa_P_526 COSM4807927 c.384G>A p.K128K Substitution - coding silent 3:139517651-139517651 - TCGA-AM-5820-01 COSM3755713 c.2450A>G p.Q817R Substitution - Missense 17:58312371-58312371 - SCC-25 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - CAL33 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - 2492721 COSM5722656 c.2323G>A p.E775K Substitution - Missense 17:58312498-58312498 - T2950 COSM4666462 c.589C>T p.R197W Substitution - Missense 17:58325695-58325695 - sysucc-1370T COSM5471673 c.357G>C p.E119D Substitution - Missense 3:139517678-139517678 - PCSI_0083_Pa_P_526 COSM3787378 c.1586C>T p.P529L Substitution - Missense 17:58319203-58319203 - UM-SCC-2 COSM4593904 c.4242G>C p.K1414N Substitution - Missense 17:58309030-58309030 - C086 COSM5527468 c.810G>A p.R270R Substitution - coding silent 17:58324943-58324943 - ATL039 COSM4765796 c.3816_3817insGGA p.E1272_E1273insG Insertion - In frame 17:58310041-58310042 - 1960034 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - TCGA-FW-A3R5-06 COSM3890047 c.4027G>A p.E1343K Substitution - Missense 17:58309245-58309245 - TCGA-AM-5820-01 COSM3755719 c.236G>A p.G79E Substitution - Missense 17:58327685-58327685 - WSU-HN8 COSM3736767 c.4250_4251insA p.S1417fs*40 Insertion - Frameshift 17:58309021-58309022 - 2492720 COSM5722654 c.2339C>T p.P780L Substitution - Missense 17:58312482-58312482 - TCGA-FW-A3R5-06 COSM3890051 c.3906C>T p.P1302P Substitution - coding silent 17:58309366-58309366 - CSCC-49-T COSM4472403 c.1780C>T p.P594S Substitution - Missense 17:58318372-58318372 - NOKSI COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - C0038T COSM981832 c.1138G>A p.A380T Substitution - Missense 17:58323006-58323006 - UPCI:SCC090 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - 2318491 COSM4776738 c.4041G>T p.K1347N Substitution - Missense 17:58309231-58309231 - TCGA-EE-A29A-06 COSM3520073 c.4664G>T p.W1555L Substitution - Missense 17:58308608-58308608 - TCGA-HU-A4H3-01 COSM4068137 c.4026C>T p.D1342D Substitution - coding silent 17:58309246-58309246 - SNUH_G73_S1 COSM4415651 c.5096G>A p.R1699K Substitution - Missense 17:58306856-58306856 - WSU-HN8 COSM4593904 c.4242G>C p.K1414N Substitution - Missense 17:58309030-58309030 - LUAD-S01345 COSM396974 c.1507G>A p.E503K Substitution - Missense 17:58319282-58319282 - UM-SCC-11B COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - CSCC-42-T COSM4498382 c.5197C>T p.P1733S Substitution - Missense 17:58306369-58306369 - TCGA-25-1313-01 COSM118298 c.5304C>G p.S1768S Substitution - coding silent 17:58305597-58305597 - TCGA-CH-5767-01 COSM1130217 c.4894G>T p.A1632S Substitution - Missense 17:58307700-58307700 - TCGA-BR-4363-01 COSM4068145 c.2386C>T p.R796C Substitution - Missense 17:58312435-58312435 - NCI-H522 COSM1683521 c.4247_4248insA p.S1417fs*40 Insertion - Frameshift 17:58309024-58309025 - sysucc-1024T COSM5763104 c.4764C>T p.D1588D Substitution - coding silent 17:58307909-58307909 - S02400 COSM5699880 c.87C>G p.A29A Substitution - coding silent 3:139538946-139538946 - cSCCP1 COSM142951 c.4957_4958CC>TT p.P1653F Substitution - Missense 17:58307636-58307637 - Pat_70_B COSM981805 c.3813_3815delGGA p.E1274delE Deletion - In frame 17:58310043-58310045 - Pat_53_A COSM981805 c.3813_3815delGGA p.E1274delE Deletion - In frame 17:58310043-58310045 - TCGA-BF-A1Q0-01 COSM3520109 c.1234G>A p.G412R Substitution - Missense 17:58322737-58322737 - SCC-9 COSM3736767 c.4250_4251insA p.S1417fs*40 Insertion - Frameshift 17:58309021-58309022 - TCGA-DK-A3IV-01 COSM1308657 c.360G>A p.M120I Substitution - Missense 3:139517675-139517675 - TCGA-AM-5821-01 COSM5713314 c.4025_4026insAGAGGAGGA p.E1341_D1342insEEE Insertion - In frame 17:58309246-58309247 - 461 COSM4436600 c.1467G>T p.L489L Substitution - coding silent 17:58320537-58320537 - T75 COSM1177553 c.3467C>T p.A1156V Substitution - Missense 17:58310744-58310744 - TCGA-LP-A5U2-01 COSM4833834 c.4793G>C p.R1598T Substitution - Missense 17:58307880-58307880 - PTC-70C COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - 46M COSM5587310 c.4085C>T p.P1362L Substitution - Missense 17:58309187-58309187 - TCGA-CG-5721-01 COSM4068129 c.4915G>A p.V1639M Substitution - Missense 17:58307679-58307679 - WSU-HN12 COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - Pat_37_B COSM981805 c.3813_3815delGGA p.E1274delE Deletion - In frame 17:58310043-58310045 - TCGA-A6-5661-01 COSM1384699 c.4544G>T p.S1515I Substitution - Missense 17:58308728-58308728 - TCGA-AX-A05Z-01 COSM981802 c.3987C>T p.L1329L Substitution - coding silent 17:58309285-58309285 - 587332 COSM1185084 c.3805G>A p.E1269K Substitution - Missense 17:58310053-58310053 - Pat_27_B COSM5853087 c.2338C>T p.P780S Substitution - Missense 17:58312483-58312483 - YUFIT COSM4666440 c.4785C>T p.P1595P Substitution - coding silent 17:58307888-58307888 - TCGA-A5-A0VP-01 COSM981820 c.2463C>T p.H821H Substitution - coding silent 17:58312358-58312358 - TCGA-ER-A193-06 COSM1710530 c.2950G>A p.D984N Substitution - Missense 17:58311702-58311702 - 2_PRE-TREATMENT COSM1721550 c.2470C>T p.H824Y Substitution - Missense 17:58312351-58312351 - HCC120T COSM3717491 c.5181C>A p.A1727A Substitution - coding silent 17:58306385-58306385 - T3091 COSM4666454 c.1556C>T p.A519V Substitution - Missense 17:58319233-58319233 - CSCC-10-T COSM4471724 c.1738C>T p.P580S Substitution - Missense 17:58318414-58318414 - 2492701 COSM5599150 c.456C>T p.F152F Substitution - coding silent 17:58326407-58326407 - WSU-HN12 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - TCGA-AM-5820-01 COSM436990 c.3418G>C p.A1140P Substitution - Missense 17:58310877-58310877 - TCGA-EE-A2GR-06 COSM3520089 c.3900C>T p.P1300P Substitution - coding silent 17:58309372-58309372 - TCGA-EE-A2GM-06 COSM3520107 c.1334C>T p.A445V Substitution - Missense 17:58322396-58322396 - TCGA-18-3419-01 COSM706689 c.3801G>A p.E1267E Substitution - coding silent 17:58310057-58310057 - SNU-283 COSM3195420 c.4438C>T p.R1480W Substitution - Missense 17:58308834-58308834 - WSU-HN12 COSM4593904 c.4242G>C p.K1414N Substitution - Missense 17:58309030-58309030 - CPCG0324-F1 COSM4966527 c.1581G>T p.L527L Substitution - coding silent 17:58319208-58319208 - BICR_22 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - T3024 COSM3380420 c.92G>A p.R31H Substitution - Missense 3:139538941-139538941 - TCGA-FW-A3R5-06 COSM3890053 c.3787G>A p.E1263K Substitution - Missense 17:58310071-58310071 - ESCC_92 COSM5637070 c.5498C>A p.A1833E Substitution - Missense 17:58305107-58305107 - TCGA-FR-A3YO-06 COSM3520105 c.2077G>A p.D693N Substitution - Missense 17:58316044-58316044 - TCGA-ER-A2NC-06 COSM3520093 c.3847C>T p.Q1283* Substitution - Nonsense 17:58310011-58310011 - P929 COSM329029 c.5105T>A p.L1702Q Substitution - Missense 17:58306847-58306847 - Detroit_562 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - 8047893 COSM3388045 c.5198C>T p.P1733L Substitution - Missense 17:58306368-58306368 - YUGURT COSM5398273 c.304A>C p.K102Q Substitution - Missense 3:139518471-139518471 - TCGA-EB-A4P0-01 COSM3520097 c.3162G>A p.E1054E Substitution - coding silent 17:58311133-58311133 - WSU-HN6 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - TCGA-G2-A2EF-01 COSM1308660 c.55G>A p.E19K Substitution - Missense 3:139539478-139539478 - PD6044a COSM5781715 c.37C>T p.P13S Substitution - Missense 17:58327884-58327884 - TCGA-B5-A11H-01 COSM981805 c.3813_3815delGGA p.E1274delE Deletion - In frame 17:58310043-58310045 - CAL33 COSM3736767 c.4250_4251insA p.S1417fs*40 Insertion - Frameshift 17:58309021-58309022 - UM-SCC-17B COSM4603410 c.4250_4251insAA p.S1417fs*39 Insertion - Frameshift 17:58309021-58309022 - WSU-HN13 COSM3736767 c.4250_4251insA p.S1417fs*40 Insertion - Frameshift 17:58309021-58309022 - PD9004a COSM5796353 c.4220G>T p.R1407I Substitution - Missense 17:58309052-58309052 - sysucc-1370T COSM4666462 c.589C>T p.R197W Substitution - Missense 17:58325695-58325695 - CHC892T COSM4798163 c.1237G>A p.V413M Substitution - Missense 17:58322734-58322734 - PTC-28C COSM4130447 c.21C>G p.L7L Substitution - coding silent 17:58327900-58327900 - Pat_28_B COSM5853089 c.1927C>T p.P643S Substitution - Missense 17:58316486-58316486 - AOCS-064-3-3 COSM3983579 c.410G>T p.C137F Substitution - Missense 17:58326714-58326714 - 8032817 COSM3388047 c.2667G>A p.R889R Substitution - coding silent 17:58312154-58312154 - TCGA-AO-A128-01 COSM3820067 c.1090C>T p.R364* Substitution - Nonsense 17:58323312-58323312 - sysucc-1317T COSM5449015 c.4895C>T p.A1632V Substitution - Missense 17:58307699-58307699 - HCT15 COSM191562 c.1053C>T p.C351C Substitution - coding silent 17:58323349-58323349 - T144 COSM307386 c.2311G>A p.D771N Substitution - Missense 17:58312510-58312510 - CLL001 COSM1290735 c.2177C>T p.S726F Substitution - Missense 17:58312644-58312644 - 71M COSM5595694 c.552G>A p.Q184Q Substitution - coding silent 17:58326311-58326311 - OSCC-GB_01030111 COSM4887661 c.4526C>T p.A1509V Substitution - Missense 17:58308746-58308746 - TCGA-22-1002-01 COSM706683 c.1988G>A p.S663N Substitution - Missense 17:58316425-58316425 - TCGA-EE-A2GB-06 COSM3520091 c.3876G>A p.R1292R Substitution - coding silent 17:58309982-58309982 - TCGA-FW-A3R5-06 COSM3890049 c.3997C>T p.P1333S Substitution - Missense 17:58309275-58309275 - SC_9104 COSM5564589 c.4774C>T p.R1592W Substitution - Missense 17:58307899-58307899 - 2492722 COSM5722656 c.2323G>A p.E775K Substitution - Missense 17:58312498-58312498 - CAL27 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - TCGA-BS-A0UV-01 COSM981799 c.4123C>T p.R1375* Substitution - Nonsense 17:58309149-58309149 - PTC-7C COSM4130443 c.1934C>G p.A645G Substitution - Missense 17:58316479-58316479 - cSCCP4 COSM139069 c.4665G>A p.W1555* Substitution - Nonsense 17:58308607-58308607 - TCGA-KR-A7K7-01 COSM4922778 c.1279C>T p.L427L Substitution - coding silent 17:58322692-58322692 - 49M COSM3195434 c.4234C>T p.P1412S Substitution - Missense 17:58309038-58309038 - CSCC-56-T COSM4495138 c.4473C>T p.S1491S Substitution - coding silent 17:58308799-58308799 - TCGA-DS-A0VM-01 COSM460279 c.1375C>T p.R459W Substitution - Missense 17:58322355-58322355 - I2L-P19Ta-Tumor-Biopsy COSM5364010 c.3201G>A p.A1067A Substitution - coding silent 17:58311094-58311094 - 2492723 COSM5722658 c.1513G>A p.E505K Substitution - Missense 17:58319276-58319276 - 2_RESISTANT COSM1721550 c.2470C>T p.H824Y Substitution - Missense 17:58312351-58312351 - OSCC-GB_00070111 COSM3712398 c.5005G>A p.D1669N Substitution - Missense 17:58306947-58306947 - WSU-HN30 COSM3736767 c.4250_4251insA p.S1417fs*40 Insertion - Frameshift 17:58309021-58309022 - PTC-7C COSM4130441 c.4569A>T p.G1523G Substitution - coding silent 17:58308703-58308703 - C086 COSM5527466 c.348G>A p.M116I Substitution - Missense 17:58326776-58326776 - B22-Tumor COSM3755713 c.2450A>G p.Q817R Substitution - Missense 17:58312371-58312371 - STC232 COSM5055634 c.3599C>T p.P1200L Substitution - Missense 17:58310612-58310612 - TCGA-ER-A19P-06 COSM3520099 c.3044G>C p.R1015P Substitution - Missense 17:58311608-58311608 - TCGA-AM-5820-01 COSM3755707 c.5183A>G p.H1728R Substitution - Missense 17:58306383-58306383 - TCGA-AG-A002-01 COSM259682 c.4038G>T p.E1346D Substitution - Missense 17:58309234-58309234 - TCGA-BR-6566-01 COSM4068131 c.4892T>C p.V1631A Substitution - Missense 17:58307702-58307702 - TCGA-D5-6927-01 COSM1384721 c.3276G>A p.P1092P Substitution - coding silent 17:58311019-58311019 - SC_9060 COSM5561658 c.4620G>A p.P1540P Substitution - coding silent 17:58308652-58308652 - BCM397T COSM4951740 c.2196C>T p.A732A Substitution - coding silent 17:58312625-58312625 - BD57T COSM5510924 c.2638C>T p.R880W Substitution - Missense 17:58312183-58312183 - TCGA-AM-5820-01 COSM5134514 c.221delG p.G74fs*37 Deletion - Frameshift 17:58327700-58327700 - TCGA-BR-8363-01 COSM4068141 c.2966C>T p.P989L Substitution - Missense 17:58311686-58311686 - UM-SCC-2 COSM4415651 c.5096G>A p.R1699K Substitution - Missense 17:58306856-58306856 - Au5 COSM5587310 c.4085C>T p.P1362L Substitution - Missense 17:58309187-58309187 - Pat_24_A COSM5853085 c.2711C>T p.P904L Substitution - Missense 17:58312110-58312110 - TCGA-AP-A059-01 COSM981841 c.498C>T p.N166N Substitution - coding silent 17:58326365-58326365 - OSCC-GB_00910111 COSM4888217 c.1712C>T p.P571L Substitution - Missense 17:58318440-58318440 - CSCC-54-T COSM4516946 c.2552_2553GG>AA p.W851* Substitution - Nonsense 17:58312268-58312269 - SNUH_G45_S1 COSM4000231 c.3081+5A>G p.? Unknown 17:58311566-58311566 - TCGA-B7-5816-01 COSM4068151 c.1883C>T p.A628V Substitution - Missense 17:58316530-58316530 - CSCC-60-T COSM4547904 c.4341G>A p.R1447R Substitution - coding silent 17:58308931-58308931 - TCGA-P4-A5E7-01 COSM3992782 c.321G>T p.W107C Substitution - Missense 3:139518454-139518454 - 2492723 COSM5722654 c.2339C>T p.P780L Substitution - Missense 17:58312482-58312482 - UM-SCC-11B COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - YUMER COSM1710528 c.2972C>T p.P991L Substitution - Missense 17:58311680-58311680 - 117 COSM145147 c.1801G>T p.A601S Substitution - Missense 17:58318351-58318351 - YUKLAB COSM1710532 c.41G>A p.G14E Substitution - Missense 17:58327880-58327880 - TCGA-D1-A17H-01 COSM981844 c.406C>T p.R136C Substitution - Missense 17:58326718-58326718 - TCGA-EE-A2MF-06 COSM4892938 c.3362C>T p.P1121L Substitution - Missense 17:58310933-58310933 - TCGA-C4-A0EZ-01 COSM417429 c.1770C>T p.L590L Substitution - coding silent 17:58318382-58318382 - TCGA-A6-5665-01 COSM1384733 c.948G>A p.T316T Substitution - coding silent 17:58323540-58323540 - TCGA-EE-A2MR-06 COSM3520061 c.5455G>A p.G1819S Substitution - Missense 17:58305150-58305150 - TCGA-EE-A2MJ-06 COSM3520061 c.5455G>A p.G1819S Substitution - Missense 17:58305150-58305150 - PD6016a2 COSM5788476 c.5433+3G>A p.? Unknown 17:58305384-58305384 - TCGA-EE-A2GI-06 COSM3520115 c.424G>A p.E142K Substitution - Missense 17:58326700-58326700 - TCGA-F1-6177-01 COSM1679948 c.2494C>T p.R832* Substitution - Nonsense 17:58312327-58312327 - PT16_1 COSM5898534 c.1873-1G>A p.? Unknown 17:58316541-58316541 - TCGA-FD-A3SN-01 COSM3795859 c.4214G>A p.R1405Q Substitution - Missense 17:58309058-58309058 - TCGA-FW-A3R5-06 COSM3890059 c.3552C>T p.P1184P Substitution - coding silent 17:58310659-58310659 - TCGA-C5-A1BL-01 COSM4837021 c.5536G>A p.E1846K Substitution - Missense 17:58305069-58305069 - CSCC-31-T COSM4449145 c.1739_1749del11 p.P580fs*41 Deletion - Frameshift 17:58318403-58318413 - BCM397T COSM4951740 c.2196C>T p.A732A Substitution - coding silent 17:58312625-58312625 - CHEWS006 COSM4579913 c.3816A>G p.E1272E Substitution - coding silent 17:58310042-58310042 - TCGA-D1-A16X-01 COSM981829 c.1264C>T p.R422C Substitution - Missense 17:58322707-58322707 - Gp5D COSM1384729 c.1343G>A p.R448Q Substitution - Missense 17:58322387-58322387 - ESO-077 COSM1246326 c.2557G>A p.G853R Substitution - Missense 17:58312264-58312264 - AOCS-088-3-8 COSM3983575 c.4038G>A p.E1346E Substitution - coding silent 17:58309234-58309234 - WSU-HN13 COSM4593904 c.4242G>C p.K1414N Substitution - Missense 17:58309030-58309030 - 2492700 COSM5599148 c.4373C>G p.P1458R Substitution - Missense 17:58308899-58308899 - TCGA-EE-A2GJ-06 COSM3520071 c.4958C>T p.P1653L Substitution - Missense 17:58307636-58307636 - SK-MEL-28 COSM1683521 c.4247_4248insA p.S1417fs*40 Insertion - Frameshift 17:58309024-58309025 - 3101B7_032_T COSM5041880 c.5225-1G>A p.? Unknown 17:58305866-58305866 - TCGA-BR-4370-01 COSM4113998 c.91C>T p.R31C Substitution - Missense 3:139538942-139538942 - LUAD-CHTN-MAD06-00668 COSM359112 c.3511A>T p.T1171S Substitution - Missense 17:58310700-58310700 - ORL-48 COSM4591824 c.4231T>C p.S1411P Substitution - Missense 17:58309041-58309041 - PT16_1 COSM5898536 c.1873G>A p.V625M Substitution - Missense 17:58316540-58316540 - WSU-HN30 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - 2492703 COSM5599148 c.4373C>G p.P1458R Substitution - Missense 17:58308899-58308899 - TCGA-E2-A14N-01 COSM436984 c.4960T>G p.F1654V Substitution - Missense 17:58307634-58307634 - TCGA-FD-A3N6-01 COSM1303108 c.2713G>A p.G905S Substitution - Missense 17:58312108-58312108 - S02246 COSM5678906 c.5435G>T p.G1812V Substitution - Missense 17:58305170-58305170 - SNU-175 COSM3195586 c.52C>A p.P18T Substitution - Missense 17:58327869-58327869 - KM12 COSM3195444 c.4070C>T p.P1357L Substitution - Missense 17:58309202-58309202 - ESCC_41 COSM981841 c.498C>T p.N166N Substitution - coding silent 17:58326365-58326365 - MO_1015 COSM5552666 c.3090G>A p.E1030E Substitution - coding silent 17:58311205-58311205 - 2492701 COSM5599148 c.4373C>G p.P1458R Substitution - Missense 17:58308899-58308899 - I2L-P19Ta-Tumor-Organoid COSM5364025 c.4964G>A p.R1655Q Substitution - Missense 17:58307630-58307630 - RK169_C01 COSM3702334 c.251T>C p.M84T Substitution - Missense 3:139538782-139538782 - TCGA-EE-A3AG-06 COSM3520119 c.244G>A p.A82T Substitution - Missense 17:58327677-58327677 - TCGA-AZ-4615-01 COSM436986 c.4515T>C p.D1505D Substitution - coding silent 17:58308757-58308757 - TCGA-EE-A2MR-06 COSM3520059 c.5475C>T p.F1825F Substitution - coding silent 17:58305130-58305130 - TCGA-D5-6930-01 COSM1384727 c.2338C>A p.P780T Substitution - Missense 17:58312483-58312483 - STC252 COSM5055632 c.5022C>T p.G1674G Substitution - coding silent 17:58306930-58306930 - TCGA-CM-5868-01 COSM5828562 c.4022_4023insGGAAGAGGA p.E1341_D1342insEEE Insertion - In frame 17:58309249-58309250 - ESCC_127 COSM5641483 c.4527G>A p.A1509A Substitution - coding silent 17:58308745-58308745 - TCGA-GF-A6C9-06 COSM4902320 c.4310C>T p.P1437L Substitution - Missense 17:58308962-58308962 - Gp2D COSM4628147 c.14T>C p.F5S Substitution - Missense 3:139539519-139539519 - TCGA-EB-A41B-01 COSM3520065 c.5342C>T p.S1781F Substitution - Missense 17:58305559-58305559 - CN-AML-CR-50-Dx COSM5428501 c.1756G>A p.A586T Substitution - Missense 17:58318396-58318396 - T2944 COSM4666440 c.4785C>T p.P1595P Substitution - coding silent 17:58307888-58307888 - ESCC_46 COSM4068145 c.2386C>T p.R796C Substitution - Missense 17:58312435-58312435 - SNUH_G45_S1 COSM4000233 c.1830C>T p.S610S Substitution - coding silent 17:58318322-58318322 - T2197 COSM1384715 c.3648C>T p.T1216T Substitution - coding silent 17:58310563-58310563 - HCC73 COSM3717493 c.3412G>C p.E1138Q Substitution - Missense 17:58310883-58310883 - 10-276 COSM3736767 c.4250_4251insA p.S1417fs*40 Insertion - Frameshift 17:58309021-58309022 - CAL27 COSM4593904 c.4242G>C p.K1414N Substitution - Missense 17:58309030-58309030 - HCC53T COSM1610532 c.1699+4A>C p.? Unknown 17:58319086-58319086 - I2L-P19Ta-Tumor-Organoid COSM5364010 c.3201G>A p.A1067A Substitution - coding silent 17:58311094-58311094 - 8069329 COSM3772978 c.4035G>C p.E1345D Substitution - Missense 17:58309237-58309237 - 2492721 COSM5722658 c.1513G>A p.E505K Substitution - Missense 17:58319276-58319276 - CSCC-55-T COSM4545277 c.3747G>A p.V1249V Substitution - coding silent 17:58310111-58310111 - TCGA-FW-A3R5-06 COSM191566 c.558G>A p.T186T Substitution - coding silent 17:58326305-58326305 - TCGA-FW-A3R5-06 COSM3890043 c.4420C>T p.R1474W Substitution - Missense 17:58308852-58308852 - TCGA-BH-A0H3-01 COSM5833340 c.4249_4250insAA p.S1417fs*39 Insertion - Frameshift 17:58309022-58309023 - S02243 COSM5677724 c.2302G>C p.E768Q Substitution - Missense 17:58312519-58312519 - TCGA-CC-A3MB-01 COSM4933743 c.3120G>T p.L1040L Substitution - coding silent 17:58311175-58311175 - AOCS-161-1-9 COSM3772978 c.4035G>C p.E1345D Substitution - Missense 17:58309237-58309237 - ASHPC_0006_Pa_P COSM3787380 c.936G>C p.P312P Substitution - coding silent 17:58324817-58324817 - PT08_2 COSM5893909 c.3884G>A p.G1295E Substitution - Missense 17:58309974-58309974 - WSU-HN8 COSM1644252 c.4247C>A p.P1416Q Substitution - Missense 17:58309025-58309025 - Au2 COSM5599148 c.4373C>G p.P1458R Substitution - Missense 17:58308899-58308899 - LIM2551 COSM4644093 c.36C>T p.D12D Substitution - coding silent 17:58327885-58327885 - TCGA-DA-A1I0-06 COSM3520057 c.5514G>A p.R1838R Substitution - coding silent 17:58305091-58305091 - RMS105_ COSM4986064 c.1363C>A p.H455N Substitution - Missense 17:58322367-58322367 - TCGA-AP-A0LD-01 COSM981793 c.4769C>A p.S1590Y Substitution - Missense 17:58307904-58307904 - T3254 COSM4666456 c.1277G>A p.G426D Substitution - Missense 17:58322694-58322694 - ESO-081 COSM1243110 c.4146G>A p.L1382L Substitution - coding silent 17:58309126-58309126 - 2334195 COSM318967 c.4417T>G p.S1473A Substitution - Missense 17:58308855-58308855 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.112482;Hs.112499 17q22-q23 610764 Hs.529566;Hs.529571 3q23 180260

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F1654V c.4960T>G 17 56384995 BRCA A C Missense p.S1473A c.4417T>G 17 56386216 SCLC A T Missense p.F1630Y c.4889T>A 17 56385066 COREAD A T Missense p.S92T c.274T>A 17 56405008 CM C A Missense p.A1156S c.3466G>T 17 56388106 CM C A Missense p.A1632S c.4894G>T 17 56385061 PRAD C A Missense p.E1448D c.4344G>T 17 56386289 LUAD C A Missense p.G1366W c.4096G>T 17 56386537 LUAD C A Missense p.V1639L c.4915G>T 17 56385040 LUAD C A Missense p.V631L c.1891G>T 17 56393883 LUAD C A Missense p.W1555L c.4664G>T 17 56385969 CM C A Nonsense p.E787* c.2359G>T 17 56389823 LUAD C A Nonsense p.G1441* c.4321G>T 17 56386312 LUAD C A Synonymous p.V1639V c.4917G>T 17 56385038 LUAD C A Synonymous p.V1800V c.5400G>T 17 56382781 GBM C A Synonymous p.V760V c.2280G>T 17 56389902 LUAD C G Missense p.E1305Q c.3913G>C 17 56386720 HNSC C G Missense p.E1787D c.5361G>C 17 56382901 BRCA C G Missense p.E178Q c.532G>C 17 56403692 UCEC C G Missense p.G751A c.2252G>C 17 56389930 GBM C G Missense p.L996F c.2988G>C 17 56389025 BRCA C G Missense p.R1015P c.3044G>C 17 56388969 CM C G Synonymous p.V827V c.2481G>C 17 56389701 BRCA C T Missense p.A82T c.244G>A 17 56405038 CM C T Missense p.A976T c.2926G>A 17 56389256 BRCA C T Missense p.D320N c.958G>A 17 56400891 UCEC C T Missense p.D980N c.2938G>A 17 56389075 BRCA C T Missense p.D984N c.2950G>A 17 56389063 CM C T Missense p.E104K c.310G>A 17 56404972 CM C T Missense p.E105K c.313G>A 17 56404969 CM C T Missense p.E142K c.424G>A 17 56404061 CM C T Missense p.E1827K c.5479G>A 17 56382487 HNSC C T Missense p.G1390E c.4169G>A 17 56386464 CM C T Missense p.G1398E c.4193G>A 17 56386440 CM C T Missense p.G1819S c.5455G>A 17 56382511 CM C T Missense p.G412R c.1234G>A 17 56400098 CM C T Missense p.G573D c.1718G>A 17 56395795 RCCC C T Missense p.G573S c.1717G>A 17 56395796 RCCC C T Missense p.G761E c.2282G>A 17 56389900 BRCA C T Missense p.G853R c.2557G>A 17 56389625 ESCA C T Missense p.G905S c.2713G>A 17 56389469 BLCA C T Missense p.R1355Q c.4064G>A 17 56386569 CM C T Missense p.R1376K c.4127G>A 17 56386506 HNSC C T Missense p.R1818K c.5453G>A 17 56382513 CM C T Missense p.R392K c.1175G>A 17 56400330 CM C T Missense p.R463Q c.1388G>A 17 56399703 STAD C T Missense p.R717H c.2150G>A 17 56390032 UCEC C T Missense p.R762K c.2285G>A 17 56389897 BRCA C T Missense p.S663N c.1988G>A 17 56393786 LUSC C T Missense p.S867N c.2600G>A 17 56389582 BRCA C T Synonymous p.E1267E c.3801G>A 17 56387418 BRCA C T Synonymous p.E1267E c.3801G>A 17 56387418 LUSC C T Synonymous p.K1027K c.3081G>A 17 56388932 BRCA C T Synonymous p.L114L c.342G>A 17 56404143 BRCA C T Synonymous p.L188L c.564G>A 17 56403660 HNSC C T Synonymous p.L962L c.2886G>A 17 56389296 BRCA C T Synonymous p.P1359P c.4077G>A 17 56386556 STAD C T Synonymous p.Q1050Q c.3150G>A 17 56388506 BRCA C T Synonymous p.Q1778Q c.5334G>A 17 56382928 CM C T Synonymous p.R1292R c.3876G>A 17 56387343 CM C T Synonymous p.R1474R c.4422G>A 17 56386211 CM C T Synonymous p.R164R c.492G>A 17 56403732 CM C T Synonymous p.R1838R c.5514G>A 17 56382452 CM C T Synonymous p.R239R c.717G>A 17 56402928 LGG G A 3-UTRSNV . c.5571+1928C>T 17 56379806 MB G A Missense p.A445V c.1334C>T 17 56399757 CM G A Missense p.A628V c.1883C>T 17 56393891 STAD G A Missense p.A80V c.239C>T 17 56405043 CM G A Missense p.A981V c.2942C>T 17 56389071 CM G A Missense p.P1121L c.3362C>T 17 56388294 CM G A Missense p.P1484S c.4450C>T 17 56386183 SCLC G A Missense p.P1522L c.4565C>T 17 56386068 CM G A Missense p.P1653L c.4958C>T 17 56384997 CM G A Missense p.P1766L c.5297C>T 17 56382965 CM G A Missense p.P571S c.1711C>T 17 56395802 CM G A Missense p.P794L c.2381C>T 17 56389801 CM G A Missense p.P991S c.2971C>T 17 56389042 CM G A Missense p.P993S c.2977C>T 17 56389036 LUSC G A Missense p.R136C c.406C>T 17 56404079 UCEC G A Missense p.R1418C c.4252C>T 17 56386381 UCEC G A Missense p.R1565C c.4693C>T 17 56385940 BRCA G A Missense p.R175C c.523C>T 17 56403701 BRCA G A Missense p.R796C c.2386C>T 17 56389796 STAD G A Missense p.S1011F c.3032C>T 17 56388981 CM G A Missense p.S1114F c.3341C>T 17 56388315 CM G A Missense p.S726F c.2177C>T 17 56390005 CLL G A Missense p.T1205I c.3614C>T 17 56387958 CM G A Nonsense p.Q1283* c.3847C>T 17 56387372 CM G A Nonsense p.R1355* c.4063C>T 17 56386570 CM G A Nonsense p.R832* c.2494C>T 17 56389688 STAD G A Synonymous p.F1654F c.4962C>T 17 56384993 CM G A Synonymous p.H821H c.2463C>T 17 56389719 UCEC G A Synonymous p.I1028I c.3084C>T 17 56388572 CM G A Synonymous p.I613I c.1839C>T 17 56395674 BRCA G A Synonymous p.L1713L c.5139C>T 17 56384174 CM G A Synonymous p.L590L c.1770C>T 17 56395743 BLCA G A Synonymous p.L776L c.2328C>T 17 56389854 CM G A Synonymous p.L915L c.2745C>T 17 56389437 CM G A Synonymous p.P1300P c.3900C>T 17 56386733 CM G A Synonymous p.P1766P c.5298C>T 17 56382964 CM G A Synonymous p.P71P c.213C>T 17 56405069 UCEC G A Synonymous p.P925P c.2775C>T 17 56389407 CM G A Synonymous p.S1473S c.4419C>T 17 56386214 CM G A Synonymous p.S612S c.1836C>T 17 56395677 CM G C Missense p.P1412A c.4234C>G 17 56386399 LUSC G C Synonymous p.S1768S c.5304C>G 17 56382958 OV - G Frameshift p.L1321Pfs*6 c.3961dupC 17 56386672 RCCC GG AA Missense p.P1791F c.5371_5372delinsTT 17 56382809 CM GG AA Missense p.P679L c.2035_2036delinsTT 17 56393446 CM G T Missense p.S1590Y c.4769C>A 17 56385265 UCEC G T Synonymous p.T493T c.1479C>A 17 56397485 HNSC TCC - InFrameDeletion p.E1274delE c.3813_3815delGGA 17 56387404 UCEC T C Missense p.N1776S c.5327A>G 17 56382935 BRCA T C Missense p.S926G c.2776A>G 17 56389406 LUSC T G Missense p.Q51P c.152A>C 17 56405130 CM C A Missense p.G69V c.206G>T 3 139258355 LUSC C T 3-UTRSNV . c.591+44G>A 3 139236428 HC C T Missense p.D66N c.196G>A 3 139258365 BRCA C T Missense p.E81K c.241G>A 3 139258320 BLCA C T Missense p.G153E c.458G>A 3 139237345 CM C T Missense p.G186D c.557G>A 3 139236506 COREAD C T Missense p.M182I c.546G>A 3 139236517 BLCA C T Missense p.V196M c.586G>A 3 139236477 CM C T Synonymous p.E165E c.495G>A 3 139237308 LGG C T Synonymous p.Q160Q c.480G>A 3 139237323 LUAD G A 3-UTRSNV . c.591+59C>T 3 139236413 ESCA G A Missense p.R93C c.277C>T 3 139257784 STAD G A Synonymous p.D152D c.456C>T 3 139237347 CLL G A Synonymous p.F193F c.579C>T 3 139236484 STAD - T 3-UTRInsertion . c.591+86dupA 3 139236386 ESCA