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 7 157000478 157000478 + Missense_Mutation SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr7:157000478G>A c.1658G>A c.(1657-1659)tGc>tAc p.C553Y ACC 7 157013436 157013436 + Missense_Mutation SNP G G T TCGA-OR-A5L5-01A-11D-A29I-10 TCGA-OR-A5L5-10A-01D-A29L-10 g.chr7:157013436G>T c.1968G>T c.(1966-1968)atG>atT p.M656I ACC 7 157013470 157013470 + Splice_Site SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr7:157013470G>A c.2002G>A c.(2002-2004)Gtg>Atg p.V668M ACC 7 157041208 157041208 + Silent SNP C C T TCGA-OR-A5LC-01A-11D-A29I-10 TCGA-OR-A5LC-10A-01D-A29L-10 g.chr7:157041208C>T c.2628C>T c.(2626-2628)taC>taT p.Y876Y BLCA 7 156961752 156961752 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:156961752G>A c.131G>A c.(130-132)cGa>cAa p.R44Q BLCA 7 156961752 156961752 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr7:156961752G>A c.131G>A c.(130-132)cGa>cAa p.R44Q BLCA 7 156967650 156967653 + Frame_Shift_Del DEL TGTT TGTT - TCGA-FJ-A3Z9-01A-11D-A26M-08 TCGA-FJ-A3Z9-10A-01D-A26K-08 g.chr7:156967650_156967653delTGTT c.380_383delTGTT c.(379-384)ctgtttfs p.LF127fs BLCA 7 156979626 156979626 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr7:156979626G>T c.1242G>T c.(1240-1242)agG>agT p.R414S BLCA 7 157000422 157000422 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr7:157000422G>C c.1602G>C c.(1600-1602)atG>atC p.M534I BLCA 7 157000469 157000469 + Missense_Mutation SNP G G A TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr7:157000469G>A c.1649G>A c.(1648-1650)cGa>cAa p.R550Q BLCA 7 157000528 157000528 + Missense_Mutation SNP G G C TCGA-FD-A6TK-01A-42D-A339-08 TCGA-FD-A6TK-10A-21D-A339-08 g.chr7:157000528G>C c.1708G>C c.(1708-1710)Gaa>Caa p.E570Q BLCA 7 157000605 157000605 + Silent SNP G G A TCGA-FD-A6TK-01A-42D-A339-08 TCGA-FD-A6TK-10A-21D-A339-08 g.chr7:157000605G>A c.1785G>A c.(1783-1785)caG>caA p.Q595Q BLCA 7 157015987 157015987 + Missense_Mutation SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr7:157015987G>A c.2042G>A c.(2041-2043)aGa>aAa p.R681K BLCA 7 157023793 157023793 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr7:157023793G>A c.2253G>A c.(2251-2253)cgG>cgA p.R751R BLCA 7 157023793 157023793 + Silent SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 g.chr7:157023793G>T c.2253G>T c.(2251-2253)cgG>cgT p.R751R BLCA 7 157041071 157041071 + Missense_Mutation SNP G G C TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr7:157041071G>C c.2491G>C c.(2491-2493)Gag>Cag p.E831Q BLCA 7 157060438 157060438 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 g.chr7:157060438G>C c.3241G>C c.(3241-3243)Gag>Cag p.E1081Q BRCA 7 156956529 156956529 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr7:156956529G>A c.92G>A c.(91-93)cGt>cAt p.R31H BRCA 7 157000483 157000483 + Missense_Mutation SNP G G C TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr7:157000483G>C c.1663G>C c.(1663-1665)Ggg>Cgg p.G555R BRCA 7 157009636 157009636 + Missense_Mutation SNP T T C TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chr7:157009636T>C c.1885T>C c.(1885-1887)Tca>Cca p.S629P BRCA 7 157016026 157016026 + Missense_Mutation SNP C C T TCGA-BH-A18Q-01A-12D-A12B-09 TCGA-BH-A18Q-11A-34D-A12B-09 g.chr7:157016026C>T c.2081C>T c.(2080-2082)cCa>cTa p.P694L BRCA 7 157041140 157041140 + Missense_Mutation SNP G G A TCGA-A8-A09W-01A-11W-A019-09 TCGA-A8-A09W-10A-01W-A021-09 g.chr7:157041140G>A c.2560G>A c.(2560-2562)Gtg>Atg p.V854M BRCA 7 157046647 157046647 + Splice_Site SNP G G T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr7:157046647G>T c.e20-1 BRCA 7 157046809 157046809 + Silent SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 g.chr7:157046809C>G c.2856C>G c.(2854-2856)ctC>ctG p.L952L CESC 7 156976679 156976679 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr7:156976679G>A c.1099G>A c.(1099-1101)Gac>Aac p.D367N CESC 7 157023842 157023842 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr7:157023842G>C c.2302G>C c.(2302-2304)Gat>Cat p.D768H CESC 7 157023913 157023913 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr7:157023913C>T c.2373C>T c.(2371-2373)ttC>ttT p.F791F CESC 7 157041173 157041173 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr7:157041173G>A c.2593G>A c.(2593-2595)Gag>Aag p.E865K CESC 7 157041184 157041184 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr7:157041184G>C c.2604G>C c.(2602-2604)aaG>aaC p.K868N CESC 7 157046683 157046683 + Silent SNP T T A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr7:157046683T>A c.2730T>A c.(2728-2730)ccT>ccA p.P910P CESC 7 157046952 157046952 + Silent SNP T T C TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 g.chr7:157046952T>C c.2898T>C c.(2896-2898)ggT>ggC p.G966G CESC 7 157060420 157060420 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr7:157060420G>C c.3223G>C c.(3223-3225)Gaa>Caa p.E1075Q COAD 7 156956510 156956510 + Missense_Mutation SNP A A G TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr7:156956510A>G c.73A>G c.(73-75)Aag>Gag p.K25E COAD 7 156956511 156956511 + Missense_Mutation SNP A A G TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr7:156956511A>G c.74A>G c.(73-75)aAg>aGg p.K25R COAD 7 156956511 156956511 + Missense_Mutation SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr7:156956511A>G c.74A>G c.(73-75)aAg>aGg p.K25R COAD 7 156956511 156956511 + Missense_Mutation SNP A A G TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr7:156956511A>G c.74A>G c.(73-75)aAg>aGg p.K25R COAD 7 156956550 156956550 + Missense_Mutation SNP A A C TCGA-AA-A01I-01A-02W-A00E-09 TCGA-AA-A01I-10A-01W-A00E-09 g.chr7:156956550A>C c.113A>C c.(112-114)aAg>aCg p.K38T COAD 7 156961751 156961751 + Nonsense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:156961751C>T c.130C>T c.(130-132)Cga>Tga p.R44* COAD 7 156963054 156963054 + Silent SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr7:156963054C>T c.252C>T c.(250-252)ggC>ggT p.G84G COAD 7 156974812 156974812 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:156974812T>G c.781T>G c.(781-783)Ttt>Gtt p.F261V COAD 7 156975010 156975010 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:156975010G>A c.979G>A c.(979-981)Gaa>Aaa p.E327K COAD 7 156976656 156976656 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:156976656C>T c.1076C>T c.(1075-1077)gCg>gTg p.A359V COAD 7 156976675 156976675 + Silent SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr7:156976675C>A c.1095C>A c.(1093-1095)gcC>gcA p.A365A COAD 7 156976705 156976705 + Silent SNP C C T TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr7:156976705C>T c.1125C>T c.(1123-1125)gcC>gcT p.A375A COAD 7 157000105 157000105 + Missense_Mutation SNP T T G TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr7:157000105T>G c.1432T>G c.(1432-1434)Ttg>Gtg p.L478V COAD 7 157000138 157000138 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:157000138T>C c.1465T>C c.(1465-1467)Tct>Cct p.S489P COAD 7 157000171 157000172 + Frame_Shift_Del DEL TT TT - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr7:157000171_157000172delTT c.1498_1499delTT c.(1498-1500)tttfs p.F500fs COAD 7 157000225 157000225 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:157000225G>A c.1552G>A c.(1552-1554)Gaa>Aaa p.E518K COAD 7 157000525 157000525 + Nonsense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:157000525C>T c.1705C>T c.(1705-1707)Cga>Tga p.R569* COAD 7 157009609 157009609 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:157009609A>C c.1858A>C c.(1858-1860)Aat>Cat p.N620H COAD 7 157009613 157009613 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:157009613T>G c.1862T>G c.(1861-1863)tTt>tGt p.F621C COAD 7 157013458 157013458 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:157013458T>C c.1990T>C c.(1990-1992)Tcc>Ccc p.S664P COAD 7 157023821 157023821 + Missense_Mutation SNP G G T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr7:157023821G>T c.2281G>T c.(2281-2283)Ggc>Tgc p.G761C COAD 7 157023919 157023919 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:157023919G>T c.2379G>T c.(2377-2379)aaG>aaT p.K793N COAD 7 157041087 157041087 + Missense_Mutation SNP A A G TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr7:157041087A>G c.2507A>G c.(2506-2508)gAg>gGg p.E836G COAD 7 157041087 157041087 + Missense_Mutation SNP A A G TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr7:157041087A>G c.2507A>G c.(2506-2508)gAg>gGg p.E836G COAD 7 157041088 157041088 + Missense_Mutation SNP G G T TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr7:157041088G>T c.2508G>T c.(2506-2508)gaG>gaT p.E836D COAD 7 157046710 157046710 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr7:157046710C>T c.2757C>T c.(2755-2757)taC>taT p.Y919Y COAD 7 157046761 157046761 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:157046761C>T c.2808C>T c.(2806-2808)tgC>tgT p.C936C COADREAD 7 156956510 156956510 + Missense_Mutation SNP A A G TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr7:156956510A>G c.73A>G c.(73-75)Aag>Gag p.K25E COADREAD 7 156956511 156956511 + Missense_Mutation SNP A A G TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr7:156956511A>G c.74A>G c.(73-75)aAg>aGg p.K25R COADREAD 7 156956511 156956511 + Missense_Mutation SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr7:156956511A>G c.74A>G c.(73-75)aAg>aGg p.K25R COADREAD 7 156956511 156956511 + Missense_Mutation SNP A A G TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chr7:156956511A>G c.74A>G c.(73-75)aAg>aGg p.K25R COADREAD 7 156956550 156956550 + Missense_Mutation SNP A A C TCGA-AA-A01I-01A-02W-A00E-09 TCGA-AA-A01I-10A-01W-A00E-09 g.chr7:156956550A>C c.113A>C c.(112-114)aAg>aCg p.K38T COADREAD 7 156961751 156961751 + Nonsense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:156961751C>T c.130C>T c.(130-132)Cga>Tga p.R44* COADREAD 7 156963054 156963054 + Silent SNP C C T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr7:156963054C>T c.252C>T c.(250-252)ggC>ggT p.G84G COADREAD 7 156974812 156974812 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:156974812T>G c.781T>G c.(781-783)Ttt>Gtt p.F261V COADREAD 7 156975010 156975010 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:156975010G>A c.979G>A c.(979-981)Gaa>Aaa p.E327K COADREAD 7 156976656 156976656 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:156976656C>T c.1076C>T c.(1075-1077)gCg>gTg p.A359V COADREAD 7 156976675 156976675 + Silent SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr7:156976675C>A c.1095C>A c.(1093-1095)gcC>gcA p.A365A COADREAD 7 156976705 156976705 + Silent SNP C C T TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr7:156976705C>T c.1125C>T c.(1123-1125)gcC>gcT p.A375A COADREAD 7 157000105 157000105 + Missense_Mutation SNP T T G TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr7:157000105T>G c.1432T>G c.(1432-1434)Ttg>Gtg p.L478V COADREAD 7 157000138 157000138 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:157000138T>C c.1465T>C c.(1465-1467)Tct>Cct p.S489P COADREAD 7 157000171 157000172 + Frame_Shift_Del DEL TT TT - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr7:157000171_157000172delTT c.1498_1499delTT c.(1498-1500)tttfs p.F500fs COADREAD 7 157000177 157000177 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:157000177C>A c.1504C>A c.(1504-1506)Ctt>Att p.L502I COADREAD 7 157000225 157000225 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:157000225G>A c.1552G>A c.(1552-1554)Gaa>Aaa p.E518K COADREAD 7 157000525 157000525 + Nonsense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:157000525C>T c.1705C>T c.(1705-1707)Cga>Tga p.R569* COADREAD 7 157009609 157009609 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:157009609A>C c.1858A>C c.(1858-1860)Aat>Cat p.N620H COADREAD 7 157009613 157009613 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:157009613T>G c.1862T>G c.(1861-1863)tTt>tGt p.F621C COADREAD 7 157013458 157013458 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr7:157013458T>C c.1990T>C c.(1990-1992)Tcc>Ccc p.S664P COADREAD 7 157023821 157023821 + Missense_Mutation SNP G G T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr7:157023821G>T c.2281G>T c.(2281-2283)Ggc>Tgc p.G761C COADREAD 7 157023919 157023919 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:157023919G>T c.2379G>T c.(2377-2379)aaG>aaT p.K793N COADREAD 7 157041087 157041087 + Missense_Mutation SNP A A G TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr7:157041087A>G c.2507A>G c.(2506-2508)gAg>gGg p.E836G COADREAD 7 157041087 157041087 + Missense_Mutation SNP A A G TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr7:157041087A>G c.2507A>G c.(2506-2508)gAg>gGg p.E836G COADREAD 7 157041088 157041088 + Missense_Mutation SNP G G T TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr7:157041088G>T c.2508G>T c.(2506-2508)gaG>gaT p.E836D COADREAD 7 157046710 157046710 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr7:157046710C>T c.2757C>T c.(2755-2757)taC>taT p.Y919Y COADREAD 7 157046761 157046761 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr7:157046761C>T c.2808C>T c.(2806-2808)tgC>tgT p.C936C ESCA 7 156963014 156963014 + Missense_Mutation SNP G G T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chr7:156963014G>T c.212G>T c.(211-213)aGt>aTt p.S71I ESCA 7 156963108 156963109 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr7:156963108_156963109insT c.306_307insT c.(307-309)tttfs p.F103fs ESCA 7 156979534 156979534 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr7:156979534G>A c.1150G>A c.(1150-1152)Ggc>Agc p.G384S ESCA 7 156994495 156994495 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr7:156994495T>C c.1412T>C c.(1411-1413)aTc>aCc p.I471T ESCA 7 157000528 157000528 + Missense_Mutation SNP G G C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr7:157000528G>C c.1708G>C c.(1708-1710)Gaa>Caa p.E570Q ESCA 7 157046813 157046813 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr7:157046813A>G c.2860A>G c.(2860-2862)Atg>Gtg p.M954V GBM 7 156963055 156963055 + Missense_Mutation SNP G G A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 g.chr7:156963055G>A c.253G>A c.(253-255)Gct>Act p.A85T GBM 7 156976584 156976584 + Missense_Mutation SNP A A T TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr7:156976584A>T c.1004A>T c.(1003-1005)gAg>gTg p.E335V GBM 7 157000142 157000142 + Missense_Mutation SNP T T C TCGA-28-5219-01A-01D-1486-08 TCGA-28-5219-10A-01D-1486-08 g.chr7:157000142T>C c.1469T>C c.(1468-1470)tTt>tCt p.F490S GBM 7 157041080 157041081 + In_Frame_Ins INS - - TGG TCGA-27-2526-01A-01D-1494-08 TCGA-27-2526-10A-01D-1494-08 g.chr7:157041080_157041081insTGG c.2500_2501insTGG c.(2500-2502)ctg>cTGGtg p.835_836insV GBM 7 157041143 157041143 + Missense_Mutation SNP G G A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 g.chr7:157041143G>A c.2563G>A c.(2563-2565)Gac>Aac p.D855N GBM 7 157046771 157046771 + Missense_Mutation SNP C C T TCGA-06-1804-01A-01D-1696-08 TCGA-06-1804-10A-01D-1696-08 g.chr7:157046771C>T c.2818C>T c.(2818-2820)Cgc>Tgc p.R940C GBM 7 157046788 157046788 + Silent SNP T T C TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 g.chr7:157046788T>C c.2835T>C c.(2833-2835)aaT>aaC p.N945N GBMLGG 7 156932027 156932027 + Missense_Mutation SNP A A G TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 g.chr7:156932027A>G c.61A>G c.(61-63)Agg>Ggg p.R21G GBMLGG 7 156963055 156963055 + Missense_Mutation SNP G G A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 g.chr7:156963055G>A c.253G>A c.(253-255)Gct>Act p.A85T GBMLGG 7 156976584 156976584 + Missense_Mutation SNP A A T TCGA-06-0173-01A-01D-1491-08 TCGA-06-0173-10B-01D-1491-08 g.chr7:156976584A>T c.1004A>T c.(1003-1005)gAg>gTg p.E335V GBMLGG 7 156994433 156994433 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:156994433C>A c.1350C>A c.(1348-1350)gcC>gcA p.A450A GBMLGG 7 157000121 157000121 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 g.chr7:157000121C>T c.1448C>T c.(1447-1449)tCc>tTc p.S483F GBMLGG 7 157000142 157000142 + Missense_Mutation SNP T T C TCGA-28-5219-01A-01D-1486-08 TCGA-28-5219-10A-01D-1486-08 g.chr7:157000142T>C c.1469T>C c.(1468-1470)tTt>tCt p.F490S GBMLGG 7 157041080 157041081 + In_Frame_Ins INS - - TGG TCGA-27-2526-01A-01D-1494-08 TCGA-27-2526-10A-01D-1494-08 g.chr7:157041080_157041081insTGG c.2500_2501insTGG c.(2500-2502)ctg>cTGGtg p.835_836insV GBMLGG 7 157041083 157041083 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:157041083G>A c.2503G>A c.(2503-2505)Gtg>Atg p.V835M GBMLGG 7 157041143 157041143 + Missense_Mutation SNP G G A TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 g.chr7:157041143G>A c.2563G>A c.(2563-2565)Gac>Aac p.D855N GBMLGG 7 157046771 157046771 + Missense_Mutation SNP C C T TCGA-06-1804-01A-01D-1696-08 TCGA-06-1804-10A-01D-1696-08 g.chr7:157046771C>T c.2818C>T c.(2818-2820)Cgc>Tgc p.R940C GBMLGG 7 157046788 157046788 + Silent SNP T T C TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 g.chr7:157046788T>C c.2835T>C c.(2833-2835)aaT>aaC p.N945N HNSC 7 156931979 156931979 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr7:156931979G>A c.13G>A c.(13-15)Gaa>Aaa p.E5K HNSC 7 156979548 156979548 + Silent SNP A A G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 g.chr7:156979548A>G c.1164A>G c.(1162-1164)gtA>gtG p.V388V HNSC 7 156979697 156979697 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:156979697T>C c.1313T>C c.(1312-1314)aTg>aCg p.M438T HNSC 7 157013389 157013389 + Missense_Mutation SNP C C G TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr7:157013389C>G c.1921C>G c.(1921-1923)Cag>Gag p.Q641E HNSC 7 157046701 157046701 + Silent SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr7:157046701G>C c.2748G>C c.(2746-2748)cgG>cgC p.R916R KICH 7 157041098 157041099 + Missense_Mutation DNP GC GC TT TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr7:157041098_157041099GC>TT c.2518_2519GC>TT c.(2518-2520)GCa>TTa p.A840L KICH 7 157041099 157041099 + Missense_Mutation SNP C C T TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr7:157041099C>T c.2519C>T c.(2518-2520)gCa>gTa p.A840V KIPAN 7 156963038 156963038 + Nonsense_Mutation SNP T T A TCGA-A4-8517-01A-11D-2396-08 TCGA-A4-8517-10A-01D-2396-08 g.chr7:156963038T>A c.236T>A c.(235-237)tTg>tAg p.L79* KIPAN 7 156967613 156967613 + Splice_Site SNP A A G TCGA-BP-4970-01A-01D-1462-08 TCGA-BP-4970-11A-01D-1462-08 g.chr7:156967613A>G c.343A>G c.(343-345)Ata>Gta p.I115V KIPAN 7 156974262 156974262 + Missense_Mutation SNP A A G TCGA-CW-5583-01A-02D-1534-10 TCGA-CW-5583-11A-01D-1535-10 g.chr7:156974262A>G c.667A>G c.(667-669)Att>Gtt p.I223V KIPAN 7 157018150 157018150 + Missense_Mutation SNP G G A TCGA-CZ-5458-01A-01D-1501-10 TCGA-CZ-5458-11A-01D-1501-10 g.chr7:157018150G>A c.2150G>A c.(2149-2151)gGt>gAt p.G717D KIPAN 7 157041098 157041099 + Missense_Mutation DNP GC GC TT TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr7:157041098_157041099GC>TT c.2518_2519GC>TT c.(2518-2520)GCa>TTa p.A840L KIPAN 7 157041099 157041099 + Missense_Mutation SNP C C T TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr7:157041099C>T c.2519C>T c.(2518-2520)gCa>gTa p.A840V KIPAN 7 157046775 157046775 + Missense_Mutation SNP A A G TCGA-BQ-5884-01A-11D-1589-08 TCGA-BQ-5884-11A-01D-1589-08 g.chr7:157046775A>G c.2822A>G c.(2821-2823)cAg>cGg p.Q941R KIPAN 7 157049683 157049683 + Missense_Mutation SNP G G A TCGA-CJ-4907-01A-01D-1429-08 TCGA-CJ-4907-11A-01D-1429-08 g.chr7:157049683G>A c.3026G>A c.(3025-3027)cGc>cAc p.R1009H KIRC 7 156967613 156967613 + Splice_Site SNP A A G TCGA-BP-4970-01A-01D-1462-08 TCGA-BP-4970-11A-01D-1462-08 g.chr7:156967613A>G c.343A>G c.(343-345)Ata>Gta p.I115V KIRC 7 156974262 156974262 + Missense_Mutation SNP A A G TCGA-CW-5583-01A-02D-1534-10 TCGA-CW-5583-11A-01D-1535-10 g.chr7:156974262A>G c.667A>G c.(667-669)Att>Gtt p.I223V KIRC 7 157018150 157018150 + Missense_Mutation SNP G G A TCGA-CZ-5458-01A-01D-1501-10 TCGA-CZ-5458-11A-01D-1501-10 g.chr7:157018150G>A c.2150G>A c.(2149-2151)gGt>gAt p.G717D KIRC 7 157049683 157049683 + Missense_Mutation SNP G G A TCGA-CJ-4907-01A-01D-1429-08 TCGA-CJ-4907-11A-01D-1429-08 g.chr7:157049683G>A c.3026G>A c.(3025-3027)cGc>cAc p.R1009H KIRP 7 156963038 156963038 + Nonsense_Mutation SNP T T A TCGA-A4-8517-01A-11D-2396-08 TCGA-A4-8517-10A-01D-2396-08 g.chr7:156963038T>A c.236T>A c.(235-237)tTg>tAg p.L79* KIRP 7 157046775 157046775 + Missense_Mutation SNP A A G TCGA-BQ-5884-01A-11D-1589-08 TCGA-BQ-5884-11A-01D-1589-08 g.chr7:157046775A>G c.2822A>G c.(2821-2823)cAg>cGg p.Q941R LGG 7 156932027 156932027 + Missense_Mutation SNP A A G TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 g.chr7:156932027A>G c.61A>G c.(61-63)Agg>Ggg p.R21G LGG 7 156994433 156994433 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:156994433C>A c.1350C>A c.(1348-1350)gcC>gcA p.A450A LGG 7 157000121 157000121 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 g.chr7:157000121C>T c.1448C>T c.(1447-1449)tCc>tTc p.S483F LGG 7 157041083 157041083 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:157041083G>A c.2503G>A c.(2503-2505)Gtg>Atg p.V835M LIHC 7 156932031 156932031 + Splice_Site SNP A A G TCGA-DD-AADS-01A-11D-A40R-10 TCGA-DD-AADS-10A-01D-A40U-10 g.chr7:156932031A>G c.65A>G c.(64-66)aAg>aGg p.K22R LIHC 7 156961778 156961778 + Missense_Mutation SNP C C A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr7:156961778C>A c.157C>A c.(157-159)Cag>Aag p.Q53K LIHC 7 156974230 156974230 + Missense_Mutation SNP A A G TCGA-DD-AACP-01A-11D-A40R-10 TCGA-DD-AACP-10A-01D-A40U-10 g.chr7:156974230A>G c.635A>G c.(634-636)tAt>tGt p.Y212C LIHC 7 156974809 156974809 + Missense_Mutation SNP G G C TCGA-MI-A75G-01A-11D-A32G-10 TCGA-MI-A75G-10A-01D-A32G-10 g.chr7:156974809G>C c.778G>C c.(778-780)Gtt>Ctt p.V260L LIHC 7 156974970 156974970 + Silent SNP T T C TCGA-BD-A3ER-01A-11D-A20W-10 TCGA-BD-A3ER-11A-11D-A20W-10 g.chr7:156974970T>C c.939T>C c.(937-939)ggT>ggC p.G313G LIHC 7 157013403 157013403 + Silent SNP A A T TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr7:157013403A>T c.1935A>T c.(1933-1935)ccA>ccT p.P645P LIHC 7 157046730 157046730 + Missense_Mutation SNP A A G TCGA-DD-AADK-01A-11D-A40R-10 TCGA-DD-AADK-10A-01D-A40U-10 g.chr7:157046730A>G c.2777A>G c.(2776-2778)tAc>tGc p.Y926C LUAD 7 156963050 156963050 + Missense_Mutation SNP G G C TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr7:156963050G>C c.248G>C c.(247-249)gGg>gCg p.G83A LUAD 7 156974295 156974295 + Missense_Mutation SNP G G T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr7:156974295G>T c.700G>T c.(700-702)Gca>Tca p.A234S LUAD 7 156974894 156974894 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr7:156974894C>T c.863C>T c.(862-864)gCg>gTg p.A288V LUAD 7 156974947 156974947 + Missense_Mutation SNP A A G TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr7:156974947A>G c.916A>G c.(916-918)Agt>Ggt p.S306G LUAD 7 156976595 156976595 + Missense_Mutation SNP C C G TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr7:156976595C>G c.1015C>G c.(1015-1017)Ctg>Gtg p.L339V LUAD 7 157000138 157000138 + Missense_Mutation SNP T T A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr7:157000138T>A c.1465T>A c.(1465-1467)Tct>Act p.S489T LUAD 7 157023909 157023909 + Missense_Mutation SNP G G A TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr7:157023909G>A c.2369G>A c.(2368-2370)gGg>gAg p.G790E LUAD 7 157023956 157023956 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr7:157023956G>T c.2416G>T c.(2416-2418)Gct>Tct p.A806S LUSC 7 156967697 156967697 + Nonsense_Mutation SNP C C T TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr7:156967697C>T c.427C>T c.(427-429)Cag>Tag p.Q143* LUSC 7 156974312 156974312 + Silent SNP G G A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr7:156974312G>A c.717G>A c.(715-717)gaG>gaA p.E239E LUSC 7 156974359 156974359 + Missense_Mutation SNP G G T TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 g.chr7:156974359G>T c.764G>T c.(763-765)gGt>gTt p.G255V LUSC 7 156976589 156976589 + Missense_Mutation SNP G G C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr7:156976589G>C c.1009G>C c.(1009-1011)Ggg>Cgg p.G337R LUSC 7 157013451 157013451 + Silent SNP G G T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 g.chr7:157013451G>T c.1983G>T c.(1981-1983)ccG>ccT p.P661P LUSC 7 157041102 157041102 + Missense_Mutation SNP G G T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr7:157041102G>T c.2522G>T c.(2521-2523)gGc>gTc p.G841V LUSC 7 157049687 157049687 + Missense_Mutation SNP A A T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr7:157049687A>T c.3030A>T c.(3028-3030)aaA>aaT p.K1010N OV 7 156971476 156971476 + Missense_Mutation SNP T T G TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 g.chr7:156971476T>G c.551T>G c.(550-552)gTt>gGt p.V184G OV 7 157015955 157015955 + Missense_Mutation SNP G G C TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 g.chr7:157015955G>C c.2010G>C c.(2008-2010)ttG>ttC p.L670F OV 7 157041088 157041088 + Silent SNP G G A TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 g.chr7:157041088G>A c.2508G>A c.(2506-2508)gaG>gaA p.E836E PAAD 7 156963025 156963025 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chr7:156963025C>G c.223C>G c.(223-225)Cgc>Ggc p.R75G PAAD 7 156974879 156974879 + Missense_Mutation SNP C C T TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 g.chr7:156974879C>T c.848C>T c.(847-849)cCg>cTg p.P283L PAAD 7 156974923 156974923 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:156974923C>A c.892C>A c.(892-894)Ctg>Atg p.L298M PAAD 7 156994419 156994419 + Missense_Mutation SNP C C A TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chr7:156994419C>A c.1336C>A c.(1336-1338)Ctc>Atc p.L446I PAAD 7 157049683 157049683 + Missense_Mutation SNP G G A TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr7:157049683G>A c.3026G>A c.(3025-3027)cGc>cAc p.R1009H PCPG 7 157060410 157060410 + Silent SNP C C G TCGA-TT-A6YN-01A-12D-A35I-08 TCGA-TT-A6YN-10A-01D-A35G-08 g.chr7:157060410C>G c.3213C>G c.(3211-3213)ctC>ctG p.L1071L PRAD 7 157000543 157000543 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:157000543G>T c.1723G>T c.(1723-1725)Gca>Tca p.A575S PRAD 7 157041158 157041158 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:157041158G>A c.2578G>A c.(2578-2580)Gcc>Acc p.A860T PRAD 7 157049709 157049709 + Missense_Mutation SNP T T C TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr7:157049709T>C c.3052T>C c.(3052-3054)Tgc>Cgc p.C1018R READ 7 157000177 157000177 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:157000177C>A c.1504C>A c.(1504-1506)Ctt>Att p.L502I SARC 7 157000591 157000591 + Missense_Mutation SNP A A C TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 g.chr7:157000591A>C c.1771A>C c.(1771-1773)Ata>Cta p.I591L SARC 7 157013394 157013394 + Silent SNP C C G TCGA-DX-A8BQ-01A-11D-A37C-09 TCGA-DX-A8BQ-10A-01D-A37F-09 g.chr7:157013394C>G c.1926C>G c.(1924-1926)ctC>ctG p.L642L SKCM 7 156956528 156956528 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:156956528C>T c.91C>T c.(91-93)Cgt>Tgt p.R31C SKCM 7 156961790 156961790 + Nonsense_Mutation SNP C C T TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr7:156961790C>T c.169C>T c.(169-171)Cga>Tga p.R57* SKCM 7 156963047 156963047 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:156963047C>T c.245C>T c.(244-246)tCc>tTc p.S82F SKCM 7 156963048 156963048 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:156963048C>T c.246C>T c.(244-246)tcC>tcT p.S82S SKCM 7 156967649 156967649 + Silent SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr7:156967649C>T c.379C>T c.(379-381)Ctg>Ttg p.L127L SKCM 7 156967666 156967666 + Silent SNP G G A TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr7:156967666G>A c.396G>A c.(394-396)ttG>ttA p.L132L SKCM 7 156971527 156971527 + Missense_Mutation SNP A A G TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr7:156971527A>G c.602A>G c.(601-603)tAc>tGc p.Y201C SKCM 7 156974326 156974326 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr7:156974326C>T c.731C>T c.(730-732)cCa>cTa p.P244L SKCM 7 156974994 156974994 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:156974994C>T c.963C>T c.(961-963)ttC>ttT p.F321F SKCM 7 156974994 156974994 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr7:156974994C>T c.963C>T c.(961-963)ttC>ttT p.F321F SKCM 7 156979615 156979615 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 g.chr7:156979615C>T c.1231C>T c.(1231-1233)Ctg>Ttg p.L411L SKCM 7 157000112 157000112 + Missense_Mutation SNP A A G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr7:157000112A>G c.1439A>G c.(1438-1440)cAg>cGg p.Q480R SKCM 7 157000156 157000156 + Nonsense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr7:157000156C>T c.1483C>T c.(1483-1485)Cga>Tga p.R495* SKCM 7 157000165 157000165 + Missense_Mutation SNP C C T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr7:157000165C>T c.1492C>T c.(1492-1494)Cca>Tca p.P498S SKCM 7 157041160 157041160 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:157041160C>T c.2580C>T c.(2578-2580)gcC>gcT p.A860A SKCM 7 157060408 157060408 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 g.chr7:157060408C>T c.3211C>T c.(3211-3213)Ctc>Ttc p.L1071F

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 7 156967699 156967699 single base substitution G C downstream_gene_variant BLCA-CN 7 156967699 156967699 single base substitution G C missense_variant Q100H 300G>C BLCA-CN 7 156967699 156967699 single base substitution G C missense_variant Q143H 429G>C BLCA-CN 7 157023830 157023830 single base substitution G T exon_variant BLCA-CN 7 157023830 157023830 single base substitution G T stop_gained E764* 2290G>T BLCA-US 7 156979626 156979626 single base substitution G T missense_variant R371S 1113G>T BLCA-US 7 156979626 156979626 single base substitution G T missense_variant R414S 1242G>T BLCA-US 7 157000422 157000422 single base substitution G C exon_variant BLCA-US 7 157000422 157000422 single base substitution G C missense_variant M534I 1602G>C BLCA-US 7 157060438 157060438 single base substitution G C downstream_gene_variant BLCA-US 7 157060438 157060438 single base substitution G C exon_variant BLCA-US 7 157060438 157060438 single base substitution G C missense_variant E1081Q 3241G>C BRCA-EU 7 156926709 156926709 single base substitution G A upstream_gene_variant BRCA-EU 7 156926841 156926841 single base substitution G A upstream_gene_variant BRCA-EU 7 156927979 156927979 single base substitution C T upstream_gene_variant BRCA-EU 7 156928097 156928097 single base substitution T G upstream_gene_variant BRCA-EU 7 156928357 156928357 single base substitution G T upstream_gene_variant BRCA-EU 7 156929685 156929685 single base substitution G A upstream_gene_variant BRCA-EU 7 156935214 156935214 single base substitution G C intron_variant BRCA-EU 7 156935866 156935866 deletion of <=200bp T - intron_variant BRCA-EU 7 156938163 156938163 single base substitution G A intron_variant BRCA-EU 7 156938457 156938457 deletion of <=200bp T - intron_variant BRCA-EU 7 156938478 156938478 single base substitution G A intron_variant BRCA-EU 7 156939433 156939433 single base substitution C G intron_variant BRCA-EU 7 156940380 156940380 single base substitution T G intron_variant BRCA-EU 7 156940741 156940741 single base substitution G A intron_variant BRCA-EU 7 156943172 156943172 single base substitution C T intron_variant BRCA-EU 7 156943939 156943939 single base substitution G A intron_variant BRCA-EU 7 156945409 156945409 single base substitution T A intron_variant BRCA-EU 7 156946060 156946060 deletion of <=200bp T - intron_variant BRCA-EU 7 156946354 156946354 single base substitution G C intron_variant BRCA-EU 7 156946357 156946357 single base substitution C G intron_variant BRCA-EU 7 156947296 156947296 single base substitution A G intron_variant BRCA-EU 7 156947653 156947653 deletion of <=200bp T - intron_variant BRCA-EU 7 156948839 156948839 single base substitution G C intron_variant BRCA-EU 7 156949295 156949295 single base substitution G T intron_variant BRCA-EU 7 156950016 156950016 single base substitution A C intron_variant BRCA-EU 7 156952371 156952371 single base substitution G C intron_variant BRCA-EU 7 156952555 156952555 single base substitution G A intron_variant BRCA-EU 7 156952778 156952778 single base substitution T G intron_variant BRCA-EU 7 156954602 156954602 single base substitution C T intron_variant BRCA-EU 7 156955195 156955195 deletion of <=200bp T - intron_variant BRCA-EU 7 156955769 156955769 single base substitution T A intron_variant BRCA-EU 7 156956754 156956754 single base substitution G A intron_variant BRCA-EU 7 156956942 156956942 single base substitution C G intron_variant BRCA-EU 7 156957810 156957810 single base substitution G A intron_variant BRCA-EU 7 156958373 156958373 single base substitution G A intron_variant BRCA-EU 7 156960221 156960222 deletion of <=200bp CT - intron_variant BRCA-EU 7 156960416 156960416 single base substitution G A intron_variant BRCA-EU 7 156961745 156961745 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 156961745 156961745 single base substitution G C intron_variant BRCA-EU 7 156961745 156961745 single base substitution G C missense_variant E42Q 124G>C BRCA-EU 7 156962104 156962104 single base substitution C G intron_variant BRCA-EU 7 156962512 156962512 single base substitution C T intron_variant BRCA-EU 7 156962597 156962597 single base substitution C T intron_variant BRCA-EU 7 156963787 156963787 single base substitution G A downstream_gene_variant BRCA-EU 7 156963787 156963787 single base substitution G A intron_variant BRCA-EU 7 156965070 156965070 single base substitution G C downstream_gene_variant BRCA-EU 7 156965070 156965070 single base substitution G C intron_variant BRCA-EU 7 156965742 156965742 single base substitution T G downstream_gene_variant BRCA-EU 7 156965742 156965742 single base substitution T G intron_variant BRCA-EU 7 156965757 156965757 single base substitution C G downstream_gene_variant BRCA-EU 7 156965757 156965757 single base substitution C G intron_variant BRCA-EU 7 156966115 156966115 single base substitution A G downstream_gene_variant BRCA-EU 7 156966115 156966115 single base substitution A G intron_variant BRCA-EU 7 156966299 156966300 deletion of <=200bp TT - downstream_gene_variant BRCA-EU 7 156966299 156966300 deletion of <=200bp TT - intron_variant BRCA-EU 7 156966392 156966392 single base substitution C G downstream_gene_variant BRCA-EU 7 156966392 156966392 single base substitution C G intron_variant BRCA-EU 7 156968693 156968693 single base substitution C G intron_variant BRCA-EU 7 156969833 156969833 single base substitution G C intron_variant BRCA-EU 7 156970638 156970638 single base substitution T A intron_variant BRCA-EU 7 156971597 156971597 single base substitution G A intron_variant BRCA-EU 7 156972671 156972671 single base substitution G T intron_variant BRCA-EU 7 156973195 156973195 single base substitution G A intron_variant BRCA-EU 7 156974894 156974894 single base substitution C T missense_variant A245V 734C>T BRCA-EU 7 156974894 156974894 single base substitution C T missense_variant A288V 863C>T BRCA-EU 7 156975227 156975227 single base substitution C T intron_variant BRCA-EU 7 156975468 156975468 single base substitution G C intron_variant BRCA-EU 7 156975590 156975590 single base substitution A C intron_variant BRCA-EU 7 156975639 156975639 single base substitution C T intron_variant BRCA-EU 7 156977548 156977548 single base substitution T A intron_variant BRCA-EU 7 156978443 156978443 single base substitution C T intron_variant BRCA-EU 7 156979834 156979834 single base substitution T C intron_variant BRCA-EU 7 156980076 156980076 single base substitution T G intron_variant BRCA-EU 7 156981197 156981197 single base substitution G A intron_variant BRCA-EU 7 156982960 156982960 single base substitution C G downstream_gene_variant BRCA-EU 7 156982960 156982960 single base substitution C G intron_variant BRCA-EU 7 156986714 156986714 single base substitution A C downstream_gene_variant BRCA-EU 7 156986714 156986714 single base substitution A C intron_variant BRCA-EU 7 156987521 156987521 single base substitution G A intron_variant BRCA-EU 7 156988067 156988067 single base substitution T A intron_variant BRCA-EU 7 156991606 156991606 single base substitution G C intron_variant BRCA-EU 7 156991880 156991880 single base substitution C G intron_variant BRCA-EU 7 156991974 156991974 single base substitution C T intron_variant BRCA-EU 7 156993376 156993376 single base substitution T G intron_variant BRCA-EU 7 156993596 156993626 deletion of <=200bp CACCGTGCCTGGCCTAAAAATCTTTAAGATA - intron_variant BRCA-EU 7 156993649 156993649 single base substitution A T intron_variant BRCA-EU 7 156994508 156994508 single base substitution A G splice_region_variant BRCA-EU 7 156994637 156994637 single base substitution G T intron_variant BRCA-EU 7 156994910 156994910 single base substitution C G intron_variant BRCA-EU 7 156995332 156995332 single base substitution G A intron_variant BRCA-EU 7 156995332 156995332 single base substitution G A upstream_gene_variant BRCA-EU 7 156997260 156997260 deletion of <=200bp A - intron_variant BRCA-EU 7 156997260 156997260 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 156998896 156998896 single base substitution G A intron_variant BRCA-EU 7 156998896 156998896 single base substitution G A upstream_gene_variant BRCA-EU 7 156998966 156998966 deletion of <=200bp T - intron_variant BRCA-EU 7 156998966 156998966 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 156998975 156998975 single base substitution G A intron_variant BRCA-EU 7 156998975 156998975 single base substitution G A upstream_gene_variant BRCA-EU 7 156999400 156999400 single base substitution A C intron_variant BRCA-EU 7 156999400 156999400 single base substitution A C upstream_gene_variant BRCA-EU 7 156999788 156999788 single base substitution G A intron_variant BRCA-EU 7 156999788 156999788 single base substitution G A upstream_gene_variant BRCA-EU 7 157000446 157000446 single base substitution G C exon_variant BRCA-EU 7 157000446 157000446 single base substitution G C synonymous_variant L542L 1626G>C BRCA-EU 7 157000967 157000967 single base substitution A T intron_variant BRCA-EU 7 157003042 157003042 single base substitution T A intron_variant BRCA-EU 7 157005748 157005748 single base substitution G A intron_variant BRCA-EU 7 157006860 157006860 single base substitution G C intron_variant BRCA-EU 7 157007046 157007046 single base substitution G A intron_variant BRCA-EU 7 157007835 157007835 single base substitution G C intron_variant BRCA-EU 7 157008916 157008916 single base substitution A G intron_variant BRCA-EU 7 157008916 157008916 single base substitution A G upstream_gene_variant BRCA-EU 7 157011013 157011013 single base substitution C T downstream_gene_variant BRCA-EU 7 157011013 157011013 single base substitution C T intron_variant BRCA-EU 7 157011013 157011013 single base substitution C T upstream_gene_variant BRCA-EU 7 157012671 157012671 single base substitution G A downstream_gene_variant BRCA-EU 7 157012671 157012671 single base substitution G A intron_variant BRCA-EU 7 157012671 157012671 single base substitution G A upstream_gene_variant BRCA-EU 7 157012937 157012937 single base substitution G C downstream_gene_variant BRCA-EU 7 157012937 157012937 single base substitution G C intron_variant BRCA-EU 7 157012937 157012937 single base substitution G C upstream_gene_variant BRCA-EU 7 157013021 157013021 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 157013021 157013021 deletion of <=200bp A - intron_variant BRCA-EU 7 157013021 157013021 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 157013226 157013226 single base substitution G C downstream_gene_variant BRCA-EU 7 157013226 157013226 single base substitution G C intron_variant BRCA-EU 7 157013226 157013226 single base substitution G C upstream_gene_variant BRCA-EU 7 157015738 157015738 single base substitution C T exon_variant BRCA-EU 7 157015738 157015738 single base substitution C T intron_variant BRCA-EU 7 157015738 157015738 single base substitution C T upstream_gene_variant BRCA-EU 7 157016007 157016007 single base substitution G C exon_variant BRCA-EU 7 157016007 157016007 single base substitution G C missense_variant E688Q 2062G>C BRCA-EU 7 157016007 157016007 single base substitution G C upstream_gene_variant BRCA-EU 7 157016945 157016945 single base substitution G C intron_variant BRCA-EU 7 157016945 157016945 single base substitution G C upstream_gene_variant BRCA-EU 7 157017202 157017202 deletion of <=200bp A - intron_variant BRCA-EU 7 157017202 157017202 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 157018280 157018280 single base substitution G C intron_variant BRCA-EU 7 157018463 157018463 single base substitution T C intron_variant BRCA-EU 7 157018464 157018464 single base substitution G A intron_variant BRCA-EU 7 157018613 157018613 single base substitution A G intron_variant BRCA-EU 7 157022665 157022665 single base substitution C G intron_variant BRCA-EU 7 157022977 157022977 single base substitution G C intron_variant BRCA-EU 7 157023090 157023090 single base substitution A G intron_variant BRCA-EU 7 157024843 157024843 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 157024843 157024843 deletion of <=200bp T - intron_variant BRCA-EU 7 157026717 157026717 single base substitution T C downstream_gene_variant BRCA-EU 7 157026717 157026717 single base substitution T C intron_variant BRCA-EU 7 157026994 157026994 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 157026994 157026994 deletion of <=200bp T - intron_variant BRCA-EU 7 157027116 157027116 single base substitution C G downstream_gene_variant BRCA-EU 7 157027116 157027116 single base substitution C G intron_variant BRCA-EU 7 157027889 157027889 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 157027889 157027889 deletion of <=200bp A - intron_variant BRCA-EU 7 157028317 157028317 single base substitution G C downstream_gene_variant BRCA-EU 7 157028317 157028317 single base substitution G C intron_variant BRCA-EU 7 157029842 157029842 single base substitution A G intron_variant BRCA-EU 7 157030787 157030787 single base substitution A C intron_variant BRCA-EU 7 157031686 157031686 single base substitution C A intron_variant BRCA-EU 7 157034948 157034948 single base substitution G A intron_variant BRCA-EU 7 157035887 157035887 single base substitution C T intron_variant BRCA-EU 7 157036502 157036502 deletion of <=200bp T - intron_variant BRCA-EU 7 157036750 157036750 single base substitution C T intron_variant BRCA-EU 7 157036857 157036857 single base substitution G A intron_variant BRCA-EU 7 157036928 157036928 deletion of <=200bp G - intron_variant BRCA-EU 7 157037837 157037837 single base substitution G A intron_variant BRCA-EU 7 157038253 157038253 single base substitution T A intron_variant BRCA-EU 7 157039752 157039752 deletion of <=200bp T - intron_variant BRCA-EU 7 157040009 157040009 single base substitution A G intron_variant BRCA-EU 7 157040964 157040964 single base substitution T A intron_variant BRCA-EU 7 157041641 157041641 single base substitution C G downstream_gene_variant BRCA-EU 7 157041641 157041641 single base substitution C G intron_variant BRCA-EU 7 157042294 157042294 single base substitution A G downstream_gene_variant BRCA-EU 7 157042294 157042294 single base substitution A G intron_variant BRCA-EU 7 157042870 157042870 single base substitution A C downstream_gene_variant BRCA-EU 7 157042870 157042870 single base substitution A C intron_variant BRCA-EU 7 157042981 157042981 single base substitution C T downstream_gene_variant BRCA-EU 7 157042981 157042981 single base substitution C T intron_variant BRCA-EU 7 157044342 157044342 single base substitution G A downstream_gene_variant BRCA-EU 7 157044342 157044342 single base substitution G A intron_variant BRCA-EU 7 157045048 157045048 single base substitution A G downstream_gene_variant BRCA-EU 7 157045048 157045048 single base substitution A G intron_variant BRCA-EU 7 157045048 157045048 single base substitution A G upstream_gene_variant BRCA-EU 7 157048007 157048007 single base substitution C G intron_variant BRCA-EU 7 157048007 157048007 single base substitution C G upstream_gene_variant BRCA-EU 7 157048708 157048708 single base substitution T G intron_variant BRCA-EU 7 157048708 157048708 single base substitution T G upstream_gene_variant BRCA-EU 7 157049295 157049295 single base substitution G A intron_variant BRCA-EU 7 157049295 157049295 single base substitution G A upstream_gene_variant BRCA-EU 7 157052473 157052473 single base substitution G A intron_variant BRCA-EU 7 157053133 157053133 single base substitution G C intron_variant BRCA-EU 7 157057135 157057135 single base substitution G C intron_variant BRCA-EU 7 157057287 157057287 single base substitution A G intron_variant BRCA-EU 7 157058879 157058879 single base substitution G C intron_variant BRCA-EU 7 157061433 157061433 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 157061433 157061433 single base substitution G A downstream_gene_variant BRCA-EU 7 157061433 157061433 single base substitution G A exon_variant BRCA-EU 7 157061599 157061599 single base substitution T G 3_prime_UTR_variant BRCA-EU 7 157061599 157061599 single base substitution T G downstream_gene_variant BRCA-EU 7 157061599 157061599 single base substitution T G exon_variant BRCA-EU 7 157061946 157061946 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 157061946 157061946 single base substitution G C downstream_gene_variant BRCA-EU 7 157062509 157062509 single base substitution C G downstream_gene_variant BRCA-EU 7 157062695 157062695 single base substitution A C downstream_gene_variant BRCA-EU 7 157063750 157063750 single base substitution C T downstream_gene_variant BRCA-EU 7 157063805 157063805 single base substitution C T downstream_gene_variant BRCA-EU 7 157064969 157064969 single base substitution G A downstream_gene_variant BRCA-EU 7 157065271 157065271 single base substitution C A downstream_gene_variant BRCA-EU 7 157065788 157065788 single base substitution G C downstream_gene_variant BRCA-EU 7 157065955 157065955 single base substitution C A downstream_gene_variant BRCA-EU 7 157066615 157066615 single base substitution G C downstream_gene_variant BRCA-EU 7 157066645 157066645 single base substitution G T downstream_gene_variant BRCA-FR 7 156929685 156929685 single base substitution G A upstream_gene_variant BRCA-FR 7 156930998 156930998 single base substitution A C upstream_gene_variant BRCA-FR 7 156956942 156956942 single base substitution C G intron_variant BRCA-FR 7 156961745 156961745 single base substitution G C 3_prime_UTR_variant BRCA-FR 7 156961745 156961745 single base substitution G C intron_variant BRCA-FR 7 156961745 156961745 single base substitution G C missense_variant E42Q 124G>C BRCA-FR 7 156965742 156965742 single base substitution T G downstream_gene_variant BRCA-FR 7 156965742 156965742 single base substitution T G intron_variant BRCA-FR 7 156966115 156966115 single base substitution A G downstream_gene_variant BRCA-FR 7 156966115 156966115 single base substitution A G intron_variant BRCA-FR 7 156968301 156968301 single base substitution C T intron_variant BRCA-FR 7 156978547 156978547 single base substitution C T intron_variant BRCA-FR 7 156991880 156991880 single base substitution C G intron_variant BRCA-FR 7 156991974 156991974 single base substitution C T intron_variant BRCA-FR 7 156994910 156994910 single base substitution C G intron_variant BRCA-FR 7 157000446 157000446 single base substitution G C exon_variant BRCA-FR 7 157000446 157000446 single base substitution G C synonymous_variant L542L 1626G>C BRCA-FR 7 157003534 157003534 single base substitution G T intron_variant BRCA-FR 7 157007835 157007835 single base substitution G C intron_variant BRCA-FR 7 157027116 157027116 single base substitution C G downstream_gene_variant BRCA-FR 7 157027116 157027116 single base substitution C G intron_variant BRCA-FR 7 157035887 157035887 single base substitution C T intron_variant BRCA-FR 7 157042010 157042010 single base substitution G A downstream_gene_variant BRCA-FR 7 157042010 157042010 single base substitution G A intron_variant BRCA-FR 7 157044342 157044342 single base substitution G A downstream_gene_variant BRCA-FR 7 157044342 157044342 single base substitution G A intron_variant BRCA-FR 7 157045018 157045018 single base substitution A G downstream_gene_variant BRCA-FR 7 157045018 157045018 single base substitution A G intron_variant BRCA-FR 7 157045018 157045018 single base substitution A G upstream_gene_variant BRCA-FR 7 157049173 157049173 single base substitution G A intron_variant BRCA-FR 7 157049173 157049173 single base substitution G A upstream_gene_variant BRCA-FR 7 157049991 157049991 single base substitution C A intron_variant BRCA-FR 7 157062509 157062509 single base substitution C G downstream_gene_variant BRCA-FR 7 157066615 157066615 single base substitution G C downstream_gene_variant BRCA-FR 7 157066645 157066645 single base substitution G T downstream_gene_variant BRCA-UK 7 156938478 156938478 single base substitution G A intron_variant BRCA-UK 7 156946357 156946357 single base substitution C G intron_variant BRCA-UK 7 156952371 156952371 single base substitution G C intron_variant BRCA-UK 7 156999605 156999605 single base substitution G C intron_variant BRCA-UK 7 156999605 156999605 single base substitution G C upstream_gene_variant BRCA-UK 7 157062695 157062695 single base substitution A C downstream_gene_variant BRCA-US 7 156956529 156956529 single base substitution G A exon_variant BRCA-US 7 156956529 156956529 single base substitution G A intron_variant BRCA-US 7 156956529 156956529 single base substitution G A missense_variant R31H 92G>A BRCA-US 7 157000483 157000483 single base substitution G C exon_variant BRCA-US 7 157000483 157000483 single base substitution G C missense_variant G555R 1663G>C BRCA-US 7 157009636 157009636 single base substitution T C exon_variant BRCA-US 7 157009636 157009636 single base substitution T C missense_variant S629P 1885T>C BRCA-US 7 157009636 157009636 single base substitution T C upstream_gene_variant BRCA-US 7 157016026 157016026 single base substitution C T exon_variant BRCA-US 7 157016026 157016026 single base substitution C T missense_variant P694L 2081C>T BRCA-US 7 157016026 157016026 single base substitution C T upstream_gene_variant BRCA-US 7 157041140 157041140 single base substitution G A exon_variant BRCA-US 7 157041140 157041140 single base substitution G A missense_variant V854M 2560G>A BRCA-US 7 157046647 157046647 single base substitution G T splice_acceptor_variant BRCA-US 7 157046647 157046647 single base substitution G T upstream_gene_variant BRCA-US 7 157046809 157046809 single base substitution C G exon_variant BRCA-US 7 157046809 157046809 single base substitution C G synonymous_variant L952L 2856C>G BRCA-US 7 157046809 157046809 single base substitution C G upstream_gene_variant BTCA-JP 7 156963011 156963011 single base substitution G C 3_prime_UTR_variant BTCA-JP 7 156963011 156963011 single base substitution G C missense_variant R27T 80G>C BTCA-JP 7 156963011 156963011 single base substitution G C missense_variant R70T 209G>C BTCA-JP 7 156963109 156963109 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 7 156963109 156963109 deletion of <=200bp T - frameshift_variant F103 BTCA-JP 7 156963109 156963109 deletion of <=200bp T - frameshift_variant F60 BTCA-JP 7 157018123 157018123 single base substitution C T exon_variant BTCA-JP 7 157018123 157018123 single base substitution C T missense_variant A708V 2123C>T BTCA-JP 7 157018123 157018123 single base substitution C T upstream_gene_variant CESC-US 7 156976679 156976679 single base substitution G A missense_variant D324N 970G>A CESC-US 7 156976679 156976679 single base substitution G A missense_variant D367N 1099G>A CESC-US 7 157023842 157023842 single base substitution G C exon_variant CESC-US 7 157023842 157023842 single base substitution G C missense_variant D768H 2302G>C CESC-US 7 157023913 157023913 single base substitution C T exon_variant CESC-US 7 157023913 157023913 single base substitution C T synonymous_variant F791F 2373C>T CESC-US 7 157041173 157041173 single base substitution G A exon_variant CESC-US 7 157041173 157041173 single base substitution G A missense_variant E865K 2593G>A CESC-US 7 157041184 157041184 single base substitution G C exon_variant CESC-US 7 157041184 157041184 single base substitution G C missense_variant K868N 2604G>C CESC-US 7 157046683 157046683 single base substitution T A exon_variant CESC-US 7 157046683 157046683 single base substitution T A synonymous_variant P910P 2730T>A CESC-US 7 157046683 157046683 single base substitution T A upstream_gene_variant CESC-US 7 157046952 157046952 single base substitution T C exon_variant CESC-US 7 157046952 157046952 single base substitution T C synonymous_variant G966G 2898T>C CESC-US 7 157046952 157046952 single base substitution T C upstream_gene_variant CESC-US 7 157060420 157060420 single base substitution G C downstream_gene_variant CESC-US 7 157060420 157060420 single base substitution G C exon_variant CESC-US 7 157060420 157060420 single base substitution G C missense_variant E1075Q 3223G>C CLLE-ES 7 156927939 156927939 single base substitution A G upstream_gene_variant CLLE-ES 7 156943169 156943169 single base substitution A G intron_variant CLLE-ES 7 156953294 156953294 single base substitution A G intron_variant CLLE-ES 7 156964243 156964243 single base substitution A C downstream_gene_variant CLLE-ES 7 156964243 156964243 single base substitution A C intron_variant CLLE-ES 7 156964357 156964357 single base substitution T C downstream_gene_variant CLLE-ES 7 156964357 156964357 single base substitution T C intron_variant CLLE-ES 7 156991925 156991925 single base substitution A G intron_variant CLLE-ES 7 157013478 157013478 single base substitution C G downstream_gene_variant CLLE-ES 7 157013478 157013478 single base substitution C G exon_variant CLLE-ES 7 157013478 157013478 single base substitution C G splice_region_variant CLLE-ES 7 157013478 157013478 single base substitution C G upstream_gene_variant CLLE-ES 7 157029155 157029155 single base substitution G A downstream_gene_variant CLLE-ES 7 157029155 157029155 single base substitution G A intron_variant CLLE-ES 7 157033584 157033584 single base substitution A G intron_variant CLLE-ES 7 157034998 157034998 single base substitution G A intron_variant CLLE-ES 7 157057019 157057019 single base substitution T C intron_variant COAD-US 7 156971453 156971453 single base substitution G A synonymous_variant S133S 399G>A COAD-US 7 156971453 156971453 single base substitution G A synonymous_variant S176S 528G>A COAD-US 7 156974812 156974812 single base substitution T G missense_variant F218V 652T>G COAD-US 7 156974812 156974812 single base substitution T G missense_variant F261V 781T>G COAD-US 7 156976656 156976656 single base substitution C T missense_variant A316V 947C>T COAD-US 7 156976656 156976656 single base substitution C T missense_variant A359V 1076C>T COAD-US 7 156976705 156976705 single base substitution C T synonymous_variant A332A 996C>T COAD-US 7 156976705 156976705 single base substitution C T synonymous_variant A375A 1125C>T COAD-US 7 157000171 157000172 deletion of <=200bp TT - frameshift_variant F500 COAD-US 7 157000171 157000172 deletion of <=200bp TT - upstream_gene_variant COAD-US 7 157000176 157000176 single base substitution T C synonymous_variant Y501Y 1503T>C COAD-US 7 157000176 157000176 single base substitution T C upstream_gene_variant COAD-US 7 157023821 157023821 single base substitution G T exon_variant COAD-US 7 157023821 157023821 single base substitution G T missense_variant G761C 2281G>T COCA-CN 7 156931122 156931122 single base substitution G T upstream_gene_variant COCA-CN 7 156949408 156949408 single base substitution A T intron_variant COCA-CN 7 156960913 156960913 single base substitution C T intron_variant COCA-CN 7 156964804 156964804 single base substitution G A downstream_gene_variant COCA-CN 7 156964804 156964804 single base substitution G A intron_variant COCA-CN 7 156973276 156973276 single base substitution A T intron_variant COCA-CN 7 156974389 156974389 single base substitution A T intron_variant COCA-CN 7 156975136 156975136 single base substitution G A intron_variant COCA-CN 7 156979638 156979638 single base substitution C T synonymous_variant S375S 1125C>T COCA-CN 7 156979638 156979638 single base substitution C T synonymous_variant S418S 1254C>T COCA-CN 7 156981502 156981502 single base substitution T G intron_variant COCA-CN 7 156981506 156981506 single base substitution T A intron_variant COCA-CN 7 156982521 156982521 single base substitution C G downstream_gene_variant COCA-CN 7 156982521 156982521 single base substitution C G intron_variant COCA-CN 7 156985985 156985985 single base substitution A C downstream_gene_variant COCA-CN 7 156985985 156985985 single base substitution A C intron_variant COCA-CN 7 156987139 156987139 single base substitution A C intron_variant COCA-CN 7 156991017 156991017 single base substitution C T intron_variant COCA-CN 7 157000080 157000080 single base substitution C A intron_variant COCA-CN 7 157000080 157000080 single base substitution C A upstream_gene_variant COCA-CN 7 157002741 157002741 single base substitution T C intron_variant COCA-CN 7 157015978 157015978 single base substitution C A exon_variant COCA-CN 7 157015978 157015978 single base substitution C A missense_variant S678Y 2033C>A COCA-CN 7 157015978 157015978 single base substitution C A upstream_gene_variant COCA-CN 7 157031086 157031086 single base substitution C T intron_variant COCA-CN 7 157035953 157035953 single base substitution G C intron_variant COCA-CN 7 157041043 157041043 single base substitution T C intron_variant COCA-CN 7 157046647 157046647 single base substitution G T splice_acceptor_variant COCA-CN 7 157046647 157046647 single base substitution G T upstream_gene_variant COCA-CN 7 157047340 157047340 single base substitution C T intron_variant COCA-CN 7 157047340 157047340 single base substitution C T upstream_gene_variant COCA-CN 7 157047649 157047649 single base substitution G A intron_variant COCA-CN 7 157047649 157047649 single base substitution G A upstream_gene_variant COCA-CN 7 157052883 157052883 single base substitution T G intron_variant EOPC-DE 7 156958806 156958806 single base substitution G C intron_variant EOPC-DE 7 157044990 157044990 single base substitution G A downstream_gene_variant EOPC-DE 7 157044990 157044990 single base substitution G A intron_variant EOPC-DE 7 157044990 157044990 single base substitution G A upstream_gene_variant EOPC-DE 7 157063668 157063668 single base substitution G C downstream_gene_variant ESAD-UK 7 156927117 156927117 single base substitution G C upstream_gene_variant ESAD-UK 7 156928868 156928868 single base substitution A C upstream_gene_variant ESAD-UK 7 156928900 156928900 insertion of <=200bp - A upstream_gene_variant ESAD-UK 7 156928900 156928900 single base substitution T A upstream_gene_variant ESAD-UK 7 156929043 156929043 single base substitution T C upstream_gene_variant ESAD-UK 7 156932477 156932477 single base substitution A G intron_variant ESAD-UK 7 156933533 156933533 single base substitution T A intron_variant ESAD-UK 7 156935416 156935416 single base substitution G T intron_variant ESAD-UK 7 156937384 156937384 single base substitution T A intron_variant ESAD-UK 7 156937439 156937439 single base substitution G A intron_variant ESAD-UK 7 156937810 156937810 deletion of <=200bp A - intron_variant ESAD-UK 7 156939636 156939636 single base substitution C T intron_variant ESAD-UK 7 156940566 156940566 single base substitution G A intron_variant ESAD-UK 7 156943733 156943733 single base substitution A G intron_variant ESAD-UK 7 156945624 156945624 single base substitution G A intron_variant ESAD-UK 7 156947653 156947653 deletion of <=200bp T - intron_variant ESAD-UK 7 156948003 156948003 single base substitution C T intron_variant ESAD-UK 7 156948896 156948896 single base substitution G C intron_variant ESAD-UK 7 156949600 156949600 single base substitution C T intron_variant ESAD-UK 7 156950679 156950679 single base substitution T G intron_variant ESAD-UK 7 156950680 156950680 insertion of <=200bp - AG intron_variant ESAD-UK 7 156952168 156952168 single base substitution G C intron_variant ESAD-UK 7 156952974 156952974 single base substitution G A intron_variant ESAD-UK 7 156953540 156953540 single base substitution T C intron_variant ESAD-UK 7 156956571 156956571 single base substitution T C intron_variant ESAD-UK 7 156959505 156959505 single base substitution G A intron_variant ESAD-UK 7 156959895 156959895 single base substitution G A intron_variant ESAD-UK 7 156960777 156960777 single base substitution G C intron_variant ESAD-UK 7 156960944 156960944 single base substitution C G intron_variant ESAD-UK 7 156962382 156962382 single base substitution G T intron_variant ESAD-UK 7 156963002 156963002 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 156963002 156963002 single base substitution C T missense_variant S24F 71C>T ESAD-UK 7 156963002 156963002 single base substitution C T missense_variant S67F 200C>T ESAD-UK 7 156963085 156963085 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 7 156963085 156963085 deletion of <=200bp A - frameshift_variant T52 ESAD-UK 7 156963085 156963085 deletion of <=200bp A - frameshift_variant T95 ESAD-UK 7 156964894 156964894 single base substitution A C downstream_gene_variant ESAD-UK 7 156964894 156964894 single base substitution A C intron_variant ESAD-UK 7 156967408 156967408 single base substitution A G downstream_gene_variant ESAD-UK 7 156967408 156967408 single base substitution A G intron_variant ESAD-UK 7 156968037 156968037 single base substitution A G downstream_gene_variant ESAD-UK 7 156968037 156968037 single base substitution A G intron_variant ESAD-UK 7 156969830 156969830 single base substitution G A intron_variant ESAD-UK 7 156970405 156970405 single base substitution C T intron_variant ESAD-UK 7 156972205 156972205 single base substitution T G intron_variant ESAD-UK 7 156973077 156973077 single base substitution G T intron_variant ESAD-UK 7 156973203 156973203 single base substitution C A intron_variant ESAD-UK 7 156975371 156975371 insertion of <=200bp - ACAT intron_variant ESAD-UK 7 156975634 156975634 single base substitution G T intron_variant ESAD-UK 7 156976884 156976884 single base substitution G C intron_variant ESAD-UK 7 156982565 156982565 single base substitution G A downstream_gene_variant ESAD-UK 7 156982565 156982565 single base substitution G A intron_variant ESAD-UK 7 156983253 156983253 single base substitution C T downstream_gene_variant ESAD-UK 7 156983253 156983253 single base substitution C T intron_variant ESAD-UK 7 156983419 156983419 deletion of <=200bp A - downstream_gene_variant ESAD-UK 7 156983419 156983419 deletion of <=200bp A - intron_variant ESAD-UK 7 156986387 156986387 single base substitution T C downstream_gene_variant ESAD-UK 7 156986387 156986387 single base substitution T C intron_variant ESAD-UK 7 156988848 156988848 single base substitution G A intron_variant ESAD-UK 7 156990059 156990059 single base substitution A G intron_variant ESAD-UK 7 156993559 156993559 single base substitution T C intron_variant ESAD-UK 7 156993621 156993621 single base substitution A C intron_variant ESAD-UK 7 156995806 156995806 single base substitution G A intron_variant ESAD-UK 7 156995806 156995806 single base substitution G A upstream_gene_variant ESAD-UK 7 156997626 156997626 single base substitution C T intron_variant ESAD-UK 7 156997626 156997626 single base substitution C T upstream_gene_variant ESAD-UK 7 156998792 156998792 single base substitution G T intron_variant ESAD-UK 7 156998792 156998792 single base substitution G T upstream_gene_variant ESAD-UK 7 156999581 156999581 single base substitution A C intron_variant ESAD-UK 7 156999581 156999581 single base substitution A C upstream_gene_variant ESAD-UK 7 157000066 157000066 single base substitution T A intron_variant ESAD-UK 7 157000066 157000066 single base substitution T A upstream_gene_variant ESAD-UK 7 157000215 157000215 single base substitution A G exon_variant ESAD-UK 7 157000215 157000215 single base substitution A G missense_variant I514M 1542A>G ESAD-UK 7 157000592 157000592 single base substitution T C exon_variant ESAD-UK 7 157000592 157000592 single base substitution T C missense_variant I591T 1772T>C ESAD-UK 7 157001839 157001839 single base substitution G T intron_variant ESAD-UK 7 157004459 157004459 single base substitution A G intron_variant ESAD-UK 7 157005046 157005046 single base substitution T G intron_variant ESAD-UK 7 157005670 157005670 single base substitution T C intron_variant ESAD-UK 7 157009485 157009485 single base substitution C T intron_variant ESAD-UK 7 157009485 157009485 single base substitution C T upstream_gene_variant ESAD-UK 7 157010074 157010074 single base substitution A T downstream_gene_variant ESAD-UK 7 157010074 157010074 single base substitution A T intron_variant ESAD-UK 7 157010074 157010074 single base substitution A T upstream_gene_variant ESAD-UK 7 157010236 157010236 insertion of <=200bp - A downstream_gene_variant ESAD-UK 7 157010236 157010236 insertion of <=200bp - A intron_variant ESAD-UK 7 157010236 157010236 insertion of <=200bp - A upstream_gene_variant ESAD-UK 7 157010590 157010590 single base substitution C T downstream_gene_variant ESAD-UK 7 157010590 157010590 single base substitution C T intron_variant ESAD-UK 7 157010590 157010590 single base substitution C T upstream_gene_variant ESAD-UK 7 157010858 157010858 single base substitution G A downstream_gene_variant ESAD-UK 7 157010858 157010858 single base substitution G A intron_variant ESAD-UK 7 157010858 157010858 single base substitution G A upstream_gene_variant ESAD-UK 7 157011118 157011118 single base substitution G A downstream_gene_variant ESAD-UK 7 157011118 157011118 single base substitution G A intron_variant ESAD-UK 7 157011118 157011118 single base substitution G A upstream_gene_variant ESAD-UK 7 157011445 157011445 single base substitution C T downstream_gene_variant ESAD-UK 7 157011445 157011445 single base substitution C T intron_variant ESAD-UK 7 157011445 157011445 single base substitution C T upstream_gene_variant ESAD-UK 7 157019118 157019118 single base substitution G T intron_variant ESAD-UK 7 157019631 157019631 single base substitution C T intron_variant ESAD-UK 7 157020295 157020295 single base substitution G A intron_variant ESAD-UK 7 157023671 157023671 single base substitution T A intron_variant ESAD-UK 7 157023730 157023730 single base substitution C T intron_variant ESAD-UK 7 157026917 157026917 single base substitution G T downstream_gene_variant ESAD-UK 7 157026917 157026917 single base substitution G T intron_variant ESAD-UK 7 157027563 157027563 single base substitution A T downstream_gene_variant ESAD-UK 7 157027563 157027563 single base substitution A T intron_variant ESAD-UK 7 157032611 157032611 single base substitution G C intron_variant ESAD-UK 7 157033342 157033342 single base substitution T A intron_variant ESAD-UK 7 157035427 157035427 single base substitution G A intron_variant ESAD-UK 7 157037781 157037781 single base substitution C T intron_variant ESAD-UK 7 157037977 157037980 deletion of <=200bp CAAA - intron_variant ESAD-UK 7 157038977 157038977 single base substitution A T intron_variant ESAD-UK 7 157039800 157039800 single base substitution G C intron_variant ESAD-UK 7 157040825 157040825 single base substitution C T intron_variant ESAD-UK 7 157043802 157043802 single base substitution A C downstream_gene_variant ESAD-UK 7 157043802 157043802 single base substitution A C intron_variant ESAD-UK 7 157044528 157044528 single base substitution G A downstream_gene_variant ESAD-UK 7 157044528 157044528 single base substitution G A intron_variant ESAD-UK 7 157044528 157044528 single base substitution G A upstream_gene_variant ESAD-UK 7 157047095 157047095 single base substitution T A intron_variant ESAD-UK 7 157047095 157047095 single base substitution T A upstream_gene_variant ESAD-UK 7 157047926 157047926 single base substitution C T intron_variant ESAD-UK 7 157047926 157047926 single base substitution C T upstream_gene_variant ESAD-UK 7 157049087 157049087 single base substitution C T intron_variant ESAD-UK 7 157049087 157049087 single base substitution C T upstream_gene_variant ESAD-UK 7 157051223 157051223 single base substitution C T intron_variant ESAD-UK 7 157056527 157056527 deletion of <=200bp C - intron_variant ESAD-UK 7 157057019 157057019 single base substitution T C intron_variant ESAD-UK 7 157057032 157057032 single base substitution C T intron_variant ESAD-UK 7 157057136 157057136 single base substitution A C intron_variant ESAD-UK 7 157057179 157057179 single base substitution C T intron_variant ESAD-UK 7 157057918 157057918 single base substitution A G intron_variant ESAD-UK 7 157057970 157057970 single base substitution G A intron_variant ESAD-UK 7 157057991 157057991 single base substitution G A intron_variant ESAD-UK 7 157058129 157058129 single base substitution C T intron_variant ESAD-UK 7 157058223 157058223 single base substitution G A intron_variant ESAD-UK 7 157059374 157059374 single base substitution G A intron_variant ESAD-UK 7 157065449 157065449 single base substitution G A downstream_gene_variant ESCA-CN 7 156971581 156971581 single base substitution T C intron_variant ESCA-CN 7 156979801 156979801 single base substitution G T intron_variant ESCA-CN 7 157061636 157061636 single base substitution A G 3_prime_UTR_variant ESCA-CN 7 157061636 157061636 single base substitution A G downstream_gene_variant ESCA-CN 7 157061636 157061636 single base substitution A G exon_variant GBM-US 7 156963055 156963055 single base substitution G A 3_prime_UTR_variant GBM-US 7 156963055 156963055 single base substitution G A missense_variant A42T 124G>A GBM-US 7 156963055 156963055 single base substitution G A missense_variant A85T 253G>A GBM-US 7 156976584 156976584 single base substitution A T missense_variant E292V 875A>T GBM-US 7 156976584 156976584 single base substitution A T missense_variant E335V 1004A>T GBM-US 7 157000142 157000142 single base substitution T C missense_variant F490S 1469T>C GBM-US 7 157000142 157000142 single base substitution T C upstream_gene_variant GBM-US 7 157041080 157041080 insertion of <=200bp - TGG exon_variant GBM-US 7 157041080 157041080 insertion of <=200bp - TGG inframe_insertion L834WL GBM-US 7 157041143 157041143 single base substitution G A exon_variant GBM-US 7 157041143 157041143 single base substitution G A missense_variant D855N 2563G>A GBM-US 7 157046771 157046771 single base substitution C T exon_variant GBM-US 7 157046771 157046771 single base substitution C T missense_variant R940C 2818C>T GBM-US 7 157046771 157046771 single base substitution C T upstream_gene_variant GBM-US 7 157046788 157046788 single base substitution T C exon_variant GBM-US 7 157046788 157046788 single base substitution T C synonymous_variant N945N 2835T>C GBM-US 7 157046788 157046788 single base substitution T C upstream_gene_variant KIRC-US 7 156967613 156967613 single base substitution A G downstream_gene_variant KIRC-US 7 156967613 156967613 single base substitution A G missense_variant I115V 343A>G KIRC-US 7 156967613 156967613 single base substitution A G missense_variant I72V 214A>G KIRC-US 7 156974262 156974262 single base substitution A G missense_variant I180V 538A>G KIRC-US 7 156974262 156974262 single base substitution A G missense_variant I223V 667A>G KIRC-US 7 157018150 157018150 single base substitution G A exon_variant KIRC-US 7 157018150 157018150 single base substitution G A missense_variant G717D 2150G>A KIRC-US 7 157018150 157018150 single base substitution G A upstream_gene_variant KIRC-US 7 157049683 157049683 single base substitution G A exon_variant KIRC-US 7 157049683 157049683 single base substitution G A missense_variant R1009H 3026G>A KIRP-US 7 156963038 156963038 single base substitution T A 3_prime_UTR_variant KIRP-US 7 156963038 156963038 single base substitution T A stop_gained L36* 107T>A KIRP-US 7 156963038 156963038 single base substitution T A stop_gained L79* 236T>A KIRP-US 7 157046775 157046775 single base substitution A G exon_variant KIRP-US 7 157046775 157046775 single base substitution A G missense_variant Q941R 2822A>G KIRP-US 7 157046775 157046775 single base substitution A G upstream_gene_variant LAML-KR 7 156930279 156930279 single base substitution G T upstream_gene_variant LAML-KR 7 156974127 156974127 single base substitution G T intron_variant LAML-KR 7 156975136 156975136 single base substitution G A intron_variant LAML-KR 7 156990344 156990344 single base substitution G A intron_variant LAML-KR 7 157056813 157056813 single base substitution A G intron_variant LICA-CN 7 156963055 156963055 single base substitution G T 3_prime_UTR_variant LICA-CN 7 156963055 156963055 single base substitution G T missense_variant A42S 124G>T LICA-CN 7 156963055 156963055 single base substitution G T missense_variant A85S 253G>T LICA-CN 7 156974854 156974854 single base substitution G T missense_variant D232Y 694G>T LICA-CN 7 156974854 156974854 single base substitution G T missense_variant D275Y 823G>T LICA-FR 7 156928893 156928893 insertion of <=200bp - T upstream_gene_variant LICA-FR 7 156930706 156930706 deletion of <=200bp A - upstream_gene_variant LICA-FR 7 156933462 156933462 single base substitution A G intron_variant LICA-FR 7 156934314 156934314 single base substitution T C intron_variant LICA-FR 7 156955183 156955183 single base substitution A G intron_variant LICA-FR 7 156956528 156956528 single base substitution C T exon_variant LICA-FR 7 156956528 156956528 single base substitution C T intron_variant LICA-FR 7 156956528 156956528 single base substitution C T missense_variant R31C 91C>T LICA-FR 7 156961029 156961029 insertion of <=200bp - A intron_variant LICA-FR 7 156967647 156967647 single base substitution C G downstream_gene_variant LICA-FR 7 156967647 156967647 single base substitution C G missense_variant S126C 377C>G LICA-FR 7 156967647 156967647 single base substitution C G missense_variant S83C 248C>G LICA-FR 7 156967650 156967650 single base substitution T A downstream_gene_variant LICA-FR 7 156967650 156967650 single base substitution T A missense_variant L127Q 380T>A LICA-FR 7 156967650 156967650 single base substitution T A missense_variant L84Q 251T>A LICA-FR 7 156971425 156971425 single base substitution T C missense_variant L124P 371T>C LICA-FR 7 156971425 156971425 single base substitution T C missense_variant L167P 500T>C LICA-FR 7 156973123 156973123 single base substitution A G intron_variant LICA-FR 7 156976670 156976670 single base substitution T G missense_variant S321A 961T>G LICA-FR 7 156976670 156976670 single base substitution T G missense_variant S364A 1090T>G LICA-FR 7 156979716 156979716 single base substitution G T splice_donor_variant LICA-FR 7 156981808 156981808 single base substitution A G 3_prime_UTR_variant LICA-FR 7 156981808 156981808 single base substitution A G intron_variant LICA-FR 7 156985808 156985808 single base substitution A T downstream_gene_variant LICA-FR 7 156985808 156985808 single base substitution A T intron_variant LICA-FR 7 156995976 156995976 single base substitution T G intron_variant LICA-FR 7 156995976 156995976 single base substitution T G upstream_gene_variant LICA-FR 7 157003862 157003862 insertion of <=200bp - GAGAGA intron_variant LICA-FR 7 157022608 157022608 single base substitution T C intron_variant LICA-FR 7 157024848 157024848 single base substitution T G downstream_gene_variant LICA-FR 7 157024848 157024848 single base substitution T G intron_variant LICA-FR 7 157027955 157027955 single base substitution C T downstream_gene_variant LICA-FR 7 157027955 157027955 single base substitution C T intron_variant LICA-FR 7 157053566 157053566 single base substitution A T intron_variant LIHC-US 7 156974809 156974809 single base substitution G C missense_variant V217L 649G>C LIHC-US 7 156974809 156974809 single base substitution G C missense_variant V260L 778G>C LIHC-US 7 157046656 157046656 single base substitution A G exon_variant LIHC-US 7 157046656 157046656 single base substitution A G synonymous_variant E901E 2703A>G LIHC-US 7 157046656 157046656 single base substitution A G upstream_gene_variant LINC-JP 7 156931845 156931845 single base substitution G T 5_prime_UTR_variant LINC-JP 7 156931845 156931845 single base substitution G T upstream_gene_variant LINC-JP 7 156932143 156932143 single base substitution T C intron_variant LINC-JP 7 156939911 156939911 single base substitution A G intron_variant LINC-JP 7 156940511 156940511 single base substitution C T intron_variant LINC-JP 7 156947067 156947067 single base substitution T G intron_variant LINC-JP 7 156951265 156951265 single base substitution A G intron_variant LINC-JP 7 156957109 156957109 single base substitution A G intron_variant LINC-JP 7 156957109 156957109 single base substitution A G splice_region_variant LINC-JP 7 156973276 156973276 insertion of <=200bp - TT intron_variant LINC-JP 7 156985558 156985558 deletion of <=200bp A - downstream_gene_variant LINC-JP 7 156985558 156985558 deletion of <=200bp A - intron_variant LINC-JP 7 157000314 157000314 single base substitution A G intron_variant LINC-JP 7 157000589 157000589 single base substitution G A exon_variant LINC-JP 7 157000589 157000589 single base substitution G A missense_variant C590Y 1769G>A LINC-JP 7 157007814 157007814 single base substitution C A intron_variant LINC-JP 7 157011447 157011447 single base substitution A C downstream_gene_variant LINC-JP 7 157011447 157011447 single base substitution A C intron_variant LINC-JP 7 157011447 157011447 single base substitution A C upstream_gene_variant LINC-JP 7 157015718 157015718 single base substitution A C exon_variant LINC-JP 7 157015718 157015718 single base substitution A C intron_variant LINC-JP 7 157015718 157015718 single base substitution A C upstream_gene_variant LINC-JP 7 157034710 157034710 single base substitution G A intron_variant LINC-JP 7 157045297 157045297 single base substitution A G downstream_gene_variant LINC-JP 7 157045297 157045297 single base substitution A G intron_variant LINC-JP 7 157045297 157045297 single base substitution A G upstream_gene_variant LINC-JP 7 157047109 157047109 single base substitution C T intron_variant LINC-JP 7 157047109 157047109 single base substitution C T upstream_gene_variant LINC-JP 7 157047110 157047110 single base substitution A T intron_variant LINC-JP 7 157047110 157047110 single base substitution A T upstream_gene_variant LINC-JP 7 157054149 157054149 single base substitution T A intron_variant LINC-JP 7 157054150 157054150 single base substitution A T intron_variant LINC-JP 7 157055103 157055103 single base substitution C T intron_variant LINC-JP 7 157056233 157056233 single base substitution A G intron_variant LINC-JP 7 157056594 157056594 insertion of <=200bp - TC intron_variant LINC-JP 7 157057190 157057190 single base substitution C A intron_variant LIRI-JP 7 156927172 156927172 single base substitution G A upstream_gene_variant LIRI-JP 7 156927854 156927854 single base substitution C G upstream_gene_variant LIRI-JP 7 156928458 156928458 single base substitution T A upstream_gene_variant LIRI-JP 7 156928526 156928526 single base substitution T G upstream_gene_variant LIRI-JP 7 156929912 156929912 single base substitution G A upstream_gene_variant LIRI-JP 7 156930405 156930405 single base substitution T C upstream_gene_variant LIRI-JP 7 156932357 156932357 single base substitution G T intron_variant LIRI-JP 7 156932717 156932717 single base substitution T C intron_variant LIRI-JP 7 156934221 156934221 single base substitution T C intron_variant LIRI-JP 7 156935839 156935839 single base substitution G A intron_variant LIRI-JP 7 156936472 156936472 single base substitution C T intron_variant LIRI-JP 7 156937306 156937306 single base substitution A C intron_variant LIRI-JP 7 156939077 156939077 single base substitution C T intron_variant LIRI-JP 7 156939336 156939336 single base substitution A G intron_variant LIRI-JP 7 156941411 156941411 single base substitution A G intron_variant LIRI-JP 7 156945440 156945440 single base substitution T C intron_variant LIRI-JP 7 156948717 156948717 single base substitution C T intron_variant LIRI-JP 7 156949352 156949352 single base substitution G T intron_variant LIRI-JP 7 156949533 156949533 single base substitution G C intron_variant LIRI-JP 7 156949776 156949776 single base substitution A G intron_variant LIRI-JP 7 156951222 156951222 single base substitution A T intron_variant LIRI-JP 7 156951349 156951349 single base substitution A G intron_variant LIRI-JP 7 156953268 156953268 single base substitution A G intron_variant LIRI-JP 7 156953652 156953652 single base substitution T G intron_variant LIRI-JP 7 156954210 156954210 single base substitution A G intron_variant LIRI-JP 7 156955659 156955659 single base substitution A G intron_variant LIRI-JP 7 156958621 156958621 single base substitution A T intron_variant LIRI-JP 7 156959043 156959043 single base substitution A G intron_variant LIRI-JP 7 156963280 156963280 single base substitution G A downstream_gene_variant LIRI-JP 7 156963280 156963280 single base substitution G A intron_variant LIRI-JP 7 156965373 156965373 single base substitution C T downstream_gene_variant LIRI-JP 7 156965373 156965373 single base substitution C T intron_variant LIRI-JP 7 156965428 156965428 single base substitution G T downstream_gene_variant LIRI-JP 7 156965428 156965428 single base substitution G T intron_variant LIRI-JP 7 156965539 156965539 single base substitution G T downstream_gene_variant LIRI-JP 7 156965539 156965539 single base substitution G T intron_variant LIRI-JP 7 156966972 156966972 single base substitution T C downstream_gene_variant LIRI-JP 7 156966972 156966972 single base substitution T C intron_variant LIRI-JP 7 156970171 156970171 single base substitution T A intron_variant LIRI-JP 7 156970641 156970641 deletion of <=200bp G - intron_variant LIRI-JP 7 156971043 156971043 single base substitution A T intron_variant LIRI-JP 7 156972873 156972873 single base substitution G A intron_variant LIRI-JP 7 156974644 156974644 single base substitution A G intron_variant LIRI-JP 7 156975443 156975443 single base substitution G C intron_variant LIRI-JP 7 156975867 156975867 single base substitution A T intron_variant LIRI-JP 7 156976556 156976556 single base substitution T A intron_variant LIRI-JP 7 156976772 156976772 single base substitution T G intron_variant LIRI-JP 7 156977900 156977900 single base substitution T C intron_variant LIRI-JP 7 156978408 156978408 single base substitution C T intron_variant LIRI-JP 7 156978736 156978736 single base substitution A G intron_variant LIRI-JP 7 156980150 156980150 single base substitution A G intron_variant LIRI-JP 7 156980175 156980175 single base substitution A C intron_variant LIRI-JP 7 156982695 156982695 single base substitution A G downstream_gene_variant LIRI-JP 7 156982695 156982695 single base substitution A G intron_variant LIRI-JP 7 156983229 156983229 single base substitution C G downstream_gene_variant LIRI-JP 7 156983229 156983229 single base substitution C G intron_variant LIRI-JP 7 156985038 156985038 single base substitution A G downstream_gene_variant LIRI-JP 7 156985038 156985038 single base substitution A G intron_variant LIRI-JP 7 156986160 156986160 single base substitution T G downstream_gene_variant LIRI-JP 7 156986160 156986160 single base substitution T G intron_variant LIRI-JP 7 156986885 156986885 single base substitution A G downstream_gene_variant LIRI-JP 7 156986885 156986885 single base substitution A G intron_variant LIRI-JP 7 156987113 156987113 single base substitution A G intron_variant LIRI-JP 7 156987760 156987760 single base substitution G A intron_variant LIRI-JP 7 156988267 156988267 single base substitution G A intron_variant LIRI-JP 7 156991904 156991904 deletion of <=200bp A - intron_variant LIRI-JP 7 156994719 156994719 single base substitution C A intron_variant LIRI-JP 7 156994983 156994983 single base substitution G T intron_variant LIRI-JP 7 156995593 156995593 single base substitution G A intron_variant LIRI-JP 7 156995593 156995593 single base substitution G A upstream_gene_variant LIRI-JP 7 157001000 157001000 single base substitution C T intron_variant LIRI-JP 7 157002363 157002363 single base substitution A G intron_variant LIRI-JP 7 157002618 157002618 single base substitution T A intron_variant LIRI-JP 7 157003134 157003134 single base substitution T C intron_variant LIRI-JP 7 157004363 157004363 single base substitution G T intron_variant LIRI-JP 7 157005100 157005100 single base substitution A G intron_variant LIRI-JP 7 157012740 157012740 single base substitution A G downstream_gene_variant LIRI-JP 7 157012740 157012740 single base substitution A G intron_variant LIRI-JP 7 157012740 157012740 single base substitution A G upstream_gene_variant LIRI-JP 7 157015142 157015142 single base substitution C G exon_variant LIRI-JP 7 157015142 157015142 single base substitution C G intron_variant LIRI-JP 7 157015142 157015142 single base substitution C G upstream_gene_variant LIRI-JP 7 157015513 157015513 single base substitution C G exon_variant LIRI-JP 7 157015513 157015513 single base substitution C G intron_variant LIRI-JP 7 157015513 157015513 single base substitution C G upstream_gene_variant LIRI-JP 7 157015999 157015999 single base substitution T G exon_variant LIRI-JP 7 157015999 157015999 single base substitution T G missense_variant V685G 2054T>G LIRI-JP 7 157015999 157015999 single base substitution T G upstream_gene_variant LIRI-JP 7 157016045 157016045 single base substitution G A splice_region_variant LIRI-JP 7 157016045 157016045 single base substitution G A upstream_gene_variant LIRI-JP 7 157016418 157016418 single base substitution A G intron_variant LIRI-JP 7 157016418 157016418 single base substitution A G upstream_gene_variant LIRI-JP 7 157016816 157016816 single base substitution C A intron_variant LIRI-JP 7 157016816 157016816 single base substitution C A upstream_gene_variant LIRI-JP 7 157017414 157017414 single base substitution A G intron_variant LIRI-JP 7 157017414 157017414 single base substitution A G upstream_gene_variant LIRI-JP 7 157017914 157017917 deletion of <=200bp TAAA - intron_variant LIRI-JP 7 157017914 157017917 deletion of <=200bp TAAA - upstream_gene_variant LIRI-JP 7 157019478 157019478 single base substitution A G intron_variant LIRI-JP 7 157019873 157019873 single base substitution A G intron_variant LIRI-JP 7 157020452 157020452 single base substitution A T intron_variant LIRI-JP 7 157020918 157020918 single base substitution A G intron_variant LIRI-JP 7 157022613 157022613 single base substitution T A intron_variant LIRI-JP 7 157022962 157022972 deletion of <=200bp ATACAGCTTTT - intron_variant LIRI-JP 7 157024932 157024932 single base substitution A G downstream_gene_variant LIRI-JP 7 157024932 157024932 single base substitution A G intron_variant LIRI-JP 7 157026826 157026826 single base substitution C T downstream_gene_variant LIRI-JP 7 157026826 157026826 single base substitution C T intron_variant LIRI-JP 7 157027298 157027298 single base substitution G T downstream_gene_variant LIRI-JP 7 157027298 157027298 single base substitution G T intron_variant LIRI-JP 7 157031978 157031978 single base substitution C T intron_variant LIRI-JP 7 157032153 157032153 single base substitution G T intron_variant LIRI-JP 7 157032949 157032949 single base substitution A G intron_variant LIRI-JP 7 157033482 157033482 single base substitution A G intron_variant LIRI-JP 7 157034928 157034928 single base substitution C A intron_variant LIRI-JP 7 157038065 157038065 single base substitution A T intron_variant LIRI-JP 7 157038607 157038607 single base substitution C T intron_variant LIRI-JP 7 157038844 157038844 single base substitution A G intron_variant LIRI-JP 7 157040377 157040377 single base substitution C G intron_variant LIRI-JP 7 157042671 157042671 single base substitution C G downstream_gene_variant LIRI-JP 7 157042671 157042671 single base substitution C G intron_variant LIRI-JP 7 157042813 157042813 single base substitution A T downstream_gene_variant LIRI-JP 7 157042813 157042813 single base substitution A T intron_variant LIRI-JP 7 157044057 157044057 single base substitution A G downstream_gene_variant LIRI-JP 7 157044057 157044057 single base substitution A G intron_variant LIRI-JP 7 157044755 157044755 single base substitution A G downstream_gene_variant LIRI-JP 7 157044755 157044755 single base substitution A G intron_variant LIRI-JP 7 157044755 157044755 single base substitution A G upstream_gene_variant LIRI-JP 7 157045007 157045007 single base substitution A G downstream_gene_variant LIRI-JP 7 157045007 157045007 single base substitution A G intron_variant LIRI-JP 7 157045007 157045007 single base substitution A G upstream_gene_variant LIRI-JP 7 157046531 157046531 single base substitution G C intron_variant LIRI-JP 7 157046531 157046531 single base substitution G C upstream_gene_variant LIRI-JP 7 157047826 157047826 single base substitution A T intron_variant LIRI-JP 7 157047826 157047826 single base substitution A T upstream_gene_variant LIRI-JP 7 157047907 157047907 single base substitution A C intron_variant LIRI-JP 7 157047907 157047907 single base substitution A C upstream_gene_variant LIRI-JP 7 157048711 157048711 single base substitution G A intron_variant LIRI-JP 7 157048711 157048711 single base substitution G A upstream_gene_variant LIRI-JP 7 157050875 157050875 single base substitution A C intron_variant LIRI-JP 7 157052042 157052042 single base substitution A G intron_variant LIRI-JP 7 157052065 157052065 single base substitution A C intron_variant LIRI-JP 7 157052200 157052200 single base substitution G A intron_variant LIRI-JP 7 157052763 157052763 single base substitution A G intron_variant LIRI-JP 7 157054893 157054893 single base substitution A G intron_variant LIRI-JP 7 157056700 157056700 single base substitution G A intron_variant LIRI-JP 7 157058062 157058062 single base substitution C T intron_variant LIRI-JP 7 157058526 157058526 single base substitution A G intron_variant LIRI-JP 7 157059685 157059685 single base substitution T C intron_variant LIRI-JP 7 157061300 157061300 single base substitution G A 3_prime_UTR_variant LIRI-JP 7 157061300 157061300 single base substitution G A downstream_gene_variant LIRI-JP 7 157061300 157061300 single base substitution G A exon_variant LIRI-JP 7 157061995 157061995 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 157061995 157061995 single base substitution A G downstream_gene_variant LIRI-JP 7 157063119 157063119 single base substitution T A downstream_gene_variant LIRI-JP 7 157063526 157063526 single base substitution T G downstream_gene_variant LIRI-JP 7 157065653 157065653 single base substitution C T downstream_gene_variant LUSC-KR 7 156929983 156929983 single base substitution G A upstream_gene_variant LUSC-KR 7 156931411 156931411 single base substitution C A upstream_gene_variant LUSC-KR 7 156938409 156938409 single base substitution G T intron_variant LUSC-KR 7 156946641 156946641 single base substitution A G intron_variant LUSC-KR 7 156949229 156949229 single base substitution A G intron_variant LUSC-KR 7 156955758 156955758 single base substitution G T intron_variant LUSC-KR 7 156959328 156959328 single base substitution G T intron_variant LUSC-KR 7 156962259 156962259 single base substitution G T intron_variant LUSC-KR 7 156974457 156974457 single base substitution T G intron_variant LUSC-KR 7 156974733 156974733 single base substitution G A intron_variant LUSC-KR 7 156978509 156978509 single base substitution A T intron_variant LUSC-KR 7 156985414 156985414 single base substitution G T downstream_gene_variant LUSC-KR 7 156985414 156985414 single base substitution G T intron_variant LUSC-KR 7 156987551 156987551 single base substitution C G intron_variant LUSC-KR 7 156998292 156998292 single base substitution T G intron_variant LUSC-KR 7 156998292 156998292 single base substitution T G upstream_gene_variant LUSC-KR 7 156999707 156999707 single base substitution A T intron_variant LUSC-KR 7 156999707 156999707 single base substitution A T upstream_gene_variant LUSC-KR 7 157005134 157005134 single base substitution A G intron_variant LUSC-KR 7 157007750 157007750 single base substitution G C intron_variant LUSC-KR 7 157011330 157011330 single base substitution G T downstream_gene_variant LUSC-KR 7 157011330 157011330 single base substitution G T intron_variant LUSC-KR 7 157011330 157011330 single base substitution G T upstream_gene_variant LUSC-KR 7 157016384 157016384 single base substitution G A intron_variant LUSC-KR 7 157016384 157016384 single base substitution G A upstream_gene_variant LUSC-KR 7 157021130 157021130 single base substitution C G intron_variant LUSC-KR 7 157022307 157022307 single base substitution G T intron_variant LUSC-KR 7 157023721 157023721 single base substitution T C intron_variant LUSC-KR 7 157026868 157026868 single base substitution C G downstream_gene_variant LUSC-KR 7 157026868 157026868 single base substitution C G intron_variant LUSC-KR 7 157031562 157031562 single base substitution A G intron_variant LUSC-KR 7 157035137 157035137 single base substitution A G intron_variant LUSC-KR 7 157037220 157037220 single base substitution G C intron_variant LUSC-KR 7 157038232 157038232 single base substitution A G intron_variant LUSC-KR 7 157044991 157044991 single base substitution G T downstream_gene_variant LUSC-KR 7 157044991 157044991 single base substitution G T intron_variant LUSC-KR 7 157044991 157044991 single base substitution G T upstream_gene_variant LUSC-KR 7 157047115 157047115 single base substitution G C intron_variant LUSC-KR 7 157047115 157047115 single base substitution G C upstream_gene_variant LUSC-KR 7 157047611 157047611 single base substitution A G intron_variant LUSC-KR 7 157047611 157047611 single base substitution A G upstream_gene_variant LUSC-KR 7 157049585 157049585 single base substitution A G exon_variant LUSC-KR 7 157049585 157049585 single base substitution A G intron_variant LUSC-KR 7 157050799 157050799 single base substitution G C intron_variant LUSC-KR 7 157053032 157053032 single base substitution C G intron_variant LUSC-KR 7 157055509 157055509 single base substitution T G intron_variant LUSC-KR 7 157057043 157057043 single base substitution G A intron_variant LUSC-KR 7 157057125 157057125 single base substitution C T intron_variant LUSC-KR 7 157058092 157058092 single base substitution G A intron_variant LUSC-KR 7 157060268 157060268 single base substitution C A intron_variant LUSC-KR 7 157061642 157061642 single base substitution C A 3_prime_UTR_variant LUSC-KR 7 157061642 157061642 single base substitution C A downstream_gene_variant LUSC-KR 7 157061642 157061642 single base substitution C A exon_variant LUSC-KR 7 157064780 157064780 single base substitution A C downstream_gene_variant LUSC-KR 7 157065332 157065332 single base substitution G A downstream_gene_variant LUSC-US 7 156967697 156967697 single base substitution C T downstream_gene_variant LUSC-US 7 156967697 156967697 single base substitution C T stop_gained Q100* 298C>T LUSC-US 7 156967697 156967697 single base substitution C T stop_gained Q143* 427C>T LUSC-US 7 156974312 156974312 single base substitution G A synonymous_variant E196E 588G>A LUSC-US 7 156974312 156974312 single base substitution G A synonymous_variant E239E 717G>A LUSC-US 7 156974359 156974359 single base substitution G T missense_variant G212V 635G>T LUSC-US 7 156974359 156974359 single base substitution G T missense_variant G255V 764G>T LUSC-US 7 156976589 156976589 single base substitution G C missense_variant G294R 880G>C LUSC-US 7 156976589 156976589 single base substitution G C missense_variant G337R 1009G>C LUSC-US 7 157013451 157013451 single base substitution G T downstream_gene_variant LUSC-US 7 157013451 157013451 single base substitution G T exon_variant LUSC-US 7 157013451 157013451 single base substitution G T synonymous_variant P661P 1983G>T LUSC-US 7 157013451 157013451 single base substitution G T upstream_gene_variant LUSC-US 7 157041102 157041102 single base substitution G T exon_variant LUSC-US 7 157041102 157041102 single base substitution G T missense_variant G841V 2522G>T LUSC-US 7 157049687 157049687 single base substitution A T exon_variant LUSC-US 7 157049687 157049687 single base substitution A T missense_variant K1010N 3030A>T MALY-DE 7 156928900 156928900 single base substitution T A upstream_gene_variant MALY-DE 7 156936519 156936519 single base substitution C T intron_variant MALY-DE 7 156939782 156939782 single base substitution A C intron_variant MALY-DE 7 156939818 156939818 single base substitution A T intron_variant MALY-DE 7 156946727 156946727 single base substitution T G intron_variant MALY-DE 7 156947040 156947040 single base substitution C T intron_variant MALY-DE 7 156947640 156947640 single base substitution A C intron_variant MALY-DE 7 156950681 156950681 single base substitution T G intron_variant MALY-DE 7 156961886 156961886 single base substitution A T intron_variant MALY-DE 7 156962176 156962176 single base substitution T C intron_variant MALY-DE 7 156965629 156965629 single base substitution C T downstream_gene_variant MALY-DE 7 156965629 156965629 single base substitution C T intron_variant MALY-DE 7 156971445 156971445 single base substitution G A missense_variant V131I 391G>A MALY-DE 7 156971445 156971445 single base substitution G A missense_variant V174I 520G>A MALY-DE 7 156977732 156977732 single base substitution A G intron_variant MALY-DE 7 156992964 156992964 single base substitution C G intron_variant MALY-DE 7 157001109 157001109 single base substitution T C intron_variant MALY-DE 7 157003862 157003863 deletion of <=200bp GA - intron_variant MALY-DE 7 157009141 157009141 single base substitution A T intron_variant MALY-DE 7 157009141 157009141 single base substitution A T upstream_gene_variant MALY-DE 7 157012787 157012787 single base substitution C T downstream_gene_variant MALY-DE 7 157012787 157012787 single base substitution C T intron_variant MALY-DE 7 157012787 157012787 single base substitution C T upstream_gene_variant MALY-DE 7 157019290 157019290 single base substitution C T intron_variant MALY-DE 7 157031204 157031204 single base substitution T A intron_variant MALY-DE 7 157049836 157049837 deletion of <=200bp TT - intron_variant MALY-DE 7 157051303 157051303 single base substitution G A intron_variant MALY-DE 7 157051459 157051459 single base substitution A T intron_variant MALY-DE 7 157051954 157051954 single base substitution G C intron_variant MALY-DE 7 157056045 157056045 single base substitution G A intron_variant MALY-DE 7 157059437 157059437 single base substitution A G intron_variant MALY-DE 7 157064179 157064179 single base substitution A G downstream_gene_variant MALY-DE 7 157065469 157065469 single base substitution G A downstream_gene_variant MELA-AU 7 156926916 156926916 single base substitution G A upstream_gene_variant MELA-AU 7 156926988 156926988 single base substitution G A upstream_gene_variant MELA-AU 7 156927479 156927479 single base substitution C T upstream_gene_variant MELA-AU 7 156927550 156927550 single base substitution G A upstream_gene_variant MELA-AU 7 156927559 156927559 single base substitution C T upstream_gene_variant MELA-AU 7 156927723 156927723 single base substitution C T upstream_gene_variant MELA-AU 7 156928221 156928221 single base substitution G A upstream_gene_variant MELA-AU 7 156928301 156928301 single base substitution G A upstream_gene_variant MELA-AU 7 156928347 156928347 single base substitution G A upstream_gene_variant MELA-AU 7 156928347 156928347 single base substitution G C upstream_gene_variant MELA-AU 7 156930054 156930054 single base substitution C T upstream_gene_variant MELA-AU 7 156930115 156930115 single base substitution C T upstream_gene_variant MELA-AU 7 156930299 156930300 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 156930353 156930353 single base substitution G A upstream_gene_variant MELA-AU 7 156931523 156931523 single base substitution G A upstream_gene_variant MELA-AU 7 156932346 156932346 single base substitution C T intron_variant MELA-AU 7 156932358 156932358 single base substitution C T intron_variant MELA-AU 7 156932854 156932854 single base substitution C T intron_variant MELA-AU 7 156933563 156933563 single base substitution C T intron_variant MELA-AU 7 156934087 156934087 single base substitution T A intron_variant MELA-AU 7 156934429 156934429 single base substitution C T intron_variant MELA-AU 7 156935480 156935480 single base substitution C T intron_variant MELA-AU 7 156935559 156935559 single base substitution T A intron_variant MELA-AU 7 156935743 156935743 single base substitution T C intron_variant MELA-AU 7 156936155 156936155 single base substitution C T intron_variant MELA-AU 7 156936219 156936219 single base substitution C T intron_variant MELA-AU 7 156936225 156936225 single base substitution C G intron_variant MELA-AU 7 156936519 156936519 single base substitution C T intron_variant MELA-AU 7 156937080 156937080 single base substitution G C intron_variant MELA-AU 7 156937577 156937577 single base substitution T A intron_variant MELA-AU 7 156937695 156937695 single base substitution C T intron_variant MELA-AU 7 156938009 156938009 single base substitution C T intron_variant MELA-AU 7 156938045 156938045 single base substitution C T intron_variant MELA-AU 7 156938509 156938509 single base substitution T G intron_variant MELA-AU 7 156938758 156938758 single base substitution C T intron_variant MELA-AU 7 156939136 156939136 single base substitution C T intron_variant MELA-AU 7 156939456 156939456 single base substitution C T intron_variant MELA-AU 7 156940187 156940187 single base substitution C T intron_variant MELA-AU 7 156943105 156943105 single base substitution C T intron_variant MELA-AU 7 156943176 156943177 deletion of <=200bp AG - intron_variant MELA-AU 7 156943473 156943473 single base substitution C T intron_variant MELA-AU 7 156943768 156943768 single base substitution T C intron_variant MELA-AU 7 156944317 156944317 single base substitution C T intron_variant MELA-AU 7 156945389 156945389 single base substitution G A intron_variant MELA-AU 7 156946036 156946036 single base substitution G A intron_variant MELA-AU 7 156946197 156946197 single base substitution C T intron_variant MELA-AU 7 156946797 156946797 single base substitution C T intron_variant MELA-AU 7 156946808 156946808 single base substitution G A intron_variant MELA-AU 7 156947564 156947564 single base substitution A T intron_variant MELA-AU 7 156948403 156948403 single base substitution C G intron_variant MELA-AU 7 156949721 156949721 single base substitution C T intron_variant MELA-AU 7 156950329 156950330 multiple base substitution (>=2bp and <=200bp) TA AC intron_variant MELA-AU 7 156950679 156950679 single base substitution T C intron_variant MELA-AU 7 156952088 156952088 single base substitution A G intron_variant MELA-AU 7 156952243 156952243 single base substitution C T intron_variant MELA-AU 7 156953994 156953994 single base substitution T A intron_variant MELA-AU 7 156954189 156954189 single base substitution C T intron_variant MELA-AU 7 156954882 156954882 single base substitution G A intron_variant MELA-AU 7 156955618 156955618 single base substitution C T intron_variant MELA-AU 7 156955734 156955734 single base substitution A T intron_variant MELA-AU 7 156956367 156956367 single base substitution C T intron_variant MELA-AU 7 156957091 156957091 insertion of <=200bp - C intron_variant MELA-AU 7 156957140 156957140 single base substitution C T exon_variant MELA-AU 7 156957140 156957140 single base substitution C T intron_variant MELA-AU 7 156957165 156957165 single base substitution C T exon_variant MELA-AU 7 156957165 156957165 single base substitution C T intron_variant MELA-AU 7 156957262 156957262 single base substitution C T intron_variant MELA-AU 7 156957754 156957754 single base substitution C T intron_variant MELA-AU 7 156958455 156958455 single base substitution C T intron_variant MELA-AU 7 156958659 156958659 single base substitution A G intron_variant MELA-AU 7 156959232 156959232 single base substitution C T intron_variant MELA-AU 7 156959531 156959531 single base substitution C T intron_variant MELA-AU 7 156959896 156959897 deletion of <=200bp TT - intron_variant MELA-AU 7 156960639 156960639 single base substitution T C intron_variant MELA-AU 7 156960871 156960871 single base substitution C T intron_variant MELA-AU 7 156961716 156961716 single base substitution C T intron_variant MELA-AU 7 156961777 156961777 single base substitution C T 3_prime_UTR_variant MELA-AU 7 156961777 156961777 single base substitution C T intron_variant MELA-AU 7 156961777 156961777 single base substitution C T synonymous_variant I52I 156C>T MELA-AU 7 156962312 156962312 single base substitution C T intron_variant MELA-AU 7 156962325 156962325 single base substitution C A intron_variant MELA-AU 7 156962581 156962581 single base substitution T C intron_variant MELA-AU 7 156962629 156962629 single base substitution C T intron_variant MELA-AU 7 156963363 156963363 single base substitution C T downstream_gene_variant MELA-AU 7 156963363 156963363 single base substitution C T intron_variant MELA-AU 7 156963752 156963752 single base substitution C T downstream_gene_variant MELA-AU 7 156963752 156963752 single base substitution C T intron_variant MELA-AU 7 156964060 156964060 single base substitution G T downstream_gene_variant MELA-AU 7 156964060 156964060 single base substitution G T intron_variant MELA-AU 7 156964080 156964080 single base substitution C T downstream_gene_variant MELA-AU 7 156964080 156964080 single base substitution C T intron_variant MELA-AU 7 156964161 156964161 single base substitution C T downstream_gene_variant MELA-AU 7 156964161 156964161 single base substitution C T intron_variant MELA-AU 7 156964734 156964734 single base substitution C T downstream_gene_variant MELA-AU 7 156964734 156964734 single base substitution C T intron_variant MELA-AU 7 156964909 156964909 single base substitution T A downstream_gene_variant MELA-AU 7 156964909 156964909 single base substitution T A intron_variant MELA-AU 7 156965270 156965270 single base substitution T G downstream_gene_variant MELA-AU 7 156965270 156965270 single base substitution T G intron_variant MELA-AU 7 156965390 156965390 single base substitution C T downstream_gene_variant MELA-AU 7 156965390 156965390 single base substitution C T intron_variant MELA-AU 7 156965984 156965984 single base substitution C T downstream_gene_variant MELA-AU 7 156965984 156965984 single base substitution C T intron_variant MELA-AU 7 156966497 156966497 single base substitution C T downstream_gene_variant MELA-AU 7 156966497 156966497 single base substitution C T intron_variant MELA-AU 7 156966655 156966655 single base substitution C T downstream_gene_variant MELA-AU 7 156966655 156966655 single base substitution C T intron_variant MELA-AU 7 156967666 156967666 single base substitution G A downstream_gene_variant MELA-AU 7 156967666 156967666 single base substitution G A synonymous_variant L132L 396G>A MELA-AU 7 156967666 156967666 single base substitution G A synonymous_variant L89L 267G>A MELA-AU 7 156967826 156967826 single base substitution C T downstream_gene_variant MELA-AU 7 156967826 156967826 single base substitution C T intron_variant MELA-AU 7 156968952 156968952 single base substitution T C intron_variant MELA-AU 7 156969168 156969168 single base substitution C T intron_variant MELA-AU 7 156969658 156969658 single base substitution C T intron_variant MELA-AU 7 156969799 156969799 single base substitution A T intron_variant MELA-AU 7 156969882 156969882 single base substitution C T intron_variant MELA-AU 7 156970635 156970635 single base substitution T A intron_variant MELA-AU 7 156970704 156970704 single base substitution C T intron_variant MELA-AU 7 156970709 156970709 single base substitution T C intron_variant MELA-AU 7 156971259 156971259 single base substitution C T intron_variant MELA-AU 7 156971452 156971452 single base substitution C T missense_variant S133L 398C>T MELA-AU 7 156971452 156971452 single base substitution C T missense_variant S176L 527C>T MELA-AU 7 156971724 156971724 single base substitution C T intron_variant MELA-AU 7 156971996 156971996 single base substitution C T intron_variant MELA-AU 7 156972147 156972147 single base substitution C T intron_variant MELA-AU 7 156972940 156972940 deletion of <=200bp A - intron_variant MELA-AU 7 156972978 156972978 single base substitution T C intron_variant MELA-AU 7 156974160 156974160 single base substitution C T intron_variant MELA-AU 7 156974289 156974289 single base substitution C T missense_variant P189S 565C>T MELA-AU 7 156974289 156974289 single base substitution C T missense_variant P232S 694C>T MELA-AU 7 156974326 156974326 single base substitution C T missense_variant P201L 602C>T MELA-AU 7 156974326 156974326 single base substitution C T missense_variant P244L 731C>T MELA-AU 7 156974365 156974365 single base substitution G A missense_variant R214K 641G>A MELA-AU 7 156974365 156974365 single base substitution G A missense_variant R257K 770G>A MELA-AU 7 156974994 156974994 single base substitution C T synonymous_variant F278F 834C>T MELA-AU 7 156974994 156974994 single base substitution C T synonymous_variant F321F 963C>T MELA-AU 7 156975565 156975565 single base substitution C T intron_variant MELA-AU 7 156975676 156975676 single base substitution C T intron_variant MELA-AU 7 156975882 156975882 single base substitution C T intron_variant MELA-AU 7 156976642 156976642 single base substitution C T synonymous_variant V311V 933C>T MELA-AU 7 156976642 156976642 single base substitution C T synonymous_variant V354V 1062C>T MELA-AU 7 156976737 156976737 single base substitution C T intron_variant MELA-AU 7 156977435 156977435 single base substitution T G intron_variant MELA-AU 7 156978131 156978131 single base substitution C T intron_variant MELA-AU 7 156978828 156978828 single base substitution C T intron_variant MELA-AU 7 156979788 156979788 single base substitution C T intron_variant MELA-AU 7 156980443 156980443 single base substitution T G intron_variant MELA-AU 7 156980611 156980611 single base substitution C T intron_variant MELA-AU 7 156981143 156981143 single base substitution C T intron_variant MELA-AU 7 156981584 156981585 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 156982202 156982202 single base substitution C T downstream_gene_variant MELA-AU 7 156982202 156982202 single base substitution C T intron_variant MELA-AU 7 156982407 156982407 single base substitution C T downstream_gene_variant MELA-AU 7 156982407 156982407 single base substitution C T intron_variant MELA-AU 7 156982604 156982605 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 156982604 156982605 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 156982738 156982738 single base substitution C T downstream_gene_variant MELA-AU 7 156982738 156982738 single base substitution C T intron_variant MELA-AU 7 156983555 156983555 single base substitution A G downstream_gene_variant MELA-AU 7 156983555 156983555 single base substitution A G intron_variant MELA-AU 7 156983830 156983830 single base substitution C T downstream_gene_variant MELA-AU 7 156983830 156983830 single base substitution C T intron_variant MELA-AU 7 156984124 156984124 single base substitution G A downstream_gene_variant MELA-AU 7 156984124 156984124 single base substitution G A intron_variant MELA-AU 7 156984211 156984211 single base substitution C T downstream_gene_variant MELA-AU 7 156984211 156984211 single base substitution C T intron_variant MELA-AU 7 156984682 156984682 single base substitution T C downstream_gene_variant MELA-AU 7 156984682 156984682 single base substitution T C intron_variant MELA-AU 7 156985033 156985034 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 156985033 156985034 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 156985164 156985164 single base substitution G A downstream_gene_variant MELA-AU 7 156985164 156985164 single base substitution G A intron_variant MELA-AU 7 156986811 156986811 single base substitution C T downstream_gene_variant MELA-AU 7 156986811 156986811 single base substitution C T intron_variant MELA-AU 7 156987201 156987201 single base substitution A G intron_variant MELA-AU 7 156988008 156988008 single base substitution C T intron_variant MELA-AU 7 156988497 156988497 single base substitution G A intron_variant MELA-AU 7 156988570 156988570 single base substitution C T intron_variant MELA-AU 7 156989746 156989746 single base substitution C T intron_variant MELA-AU 7 156989885 156989885 single base substitution T C intron_variant MELA-AU 7 156990091 156990091 single base substitution C T intron_variant MELA-AU 7 156990123 156990123 single base substitution C T intron_variant MELA-AU 7 156990441 156990442 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 156990449 156990449 single base substitution C T intron_variant MELA-AU 7 156990990 156990990 single base substitution T C intron_variant MELA-AU 7 156991938 156991938 single base substitution T C intron_variant MELA-AU 7 156991940 156991940 single base substitution C T intron_variant MELA-AU 7 156991949 156991949 single base substitution C T intron_variant MELA-AU 7 156992576 156992576 single base substitution C T intron_variant MELA-AU 7 156992652 156992652 single base substitution C T intron_variant MELA-AU 7 156993668 156993668 single base substitution T G intron_variant MELA-AU 7 156993766 156993766 single base substitution C T intron_variant MELA-AU 7 156993953 156993953 single base substitution G A intron_variant MELA-AU 7 156995234 156995234 single base substitution C T intron_variant MELA-AU 7 156995234 156995234 single base substitution C T upstream_gene_variant MELA-AU 7 156995791 156995791 single base substitution C T intron_variant MELA-AU 7 156995791 156995791 single base substitution C T upstream_gene_variant MELA-AU 7 156996117 156996117 single base substitution C T intron_variant MELA-AU 7 156996117 156996117 single base substitution C T upstream_gene_variant MELA-AU 7 156996191 156996191 single base substitution C T intron_variant MELA-AU 7 156996191 156996191 single base substitution C T upstream_gene_variant MELA-AU 7 156996216 156996216 single base substitution C T intron_variant MELA-AU 7 156996216 156996216 single base substitution C T upstream_gene_variant MELA-AU 7 156996750 156996750 single base substitution G C intron_variant MELA-AU 7 156996750 156996750 single base substitution G C upstream_gene_variant MELA-AU 7 156997331 156997331 single base substitution C T intron_variant MELA-AU 7 156997331 156997331 single base substitution C T upstream_gene_variant MELA-AU 7 156997374 156997374 single base substitution C T intron_variant MELA-AU 7 156997374 156997374 single base substitution C T upstream_gene_variant MELA-AU 7 156998943 156998943 single base substitution C T intron_variant MELA-AU 7 156998943 156998943 single base substitution C T upstream_gene_variant MELA-AU 7 156999114 156999114 single base substitution A G intron_variant MELA-AU 7 156999114 156999114 single base substitution A G upstream_gene_variant MELA-AU 7 156999279 156999279 single base substitution C T intron_variant MELA-AU 7 156999279 156999279 single base substitution C T upstream_gene_variant MELA-AU 7 156999663 156999663 single base substitution C A intron_variant MELA-AU 7 156999663 156999663 single base substitution C A upstream_gene_variant MELA-AU 7 157000733 157000733 single base substitution G C intron_variant MELA-AU 7 157001399 157001399 single base substitution C T intron_variant MELA-AU 7 157001469 157001469 single base substitution G A intron_variant MELA-AU 7 157001794 157001794 single base substitution C T intron_variant MELA-AU 7 157001924 157001924 single base substitution C T intron_variant MELA-AU 7 157002029 157002029 single base substitution C T intron_variant MELA-AU 7 157002240 157002240 single base substitution C T intron_variant MELA-AU 7 157002323 157002323 single base substitution C T intron_variant MELA-AU 7 157003113 157003113 single base substitution C T intron_variant MELA-AU 7 157003379 157003379 single base substitution C T intron_variant MELA-AU 7 157003442 157003442 single base substitution T C intron_variant MELA-AU 7 157003474 157003475 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 157003681 157003681 single base substitution C T intron_variant MELA-AU 7 157004004 157004004 single base substitution A T intron_variant MELA-AU 7 157004202 157004202 deletion of <=200bp A - intron_variant MELA-AU 7 157004215 157004215 single base substitution C T intron_variant MELA-AU 7 157004463 157004463 single base substitution C T intron_variant MELA-AU 7 157005487 157005487 single base substitution C T intron_variant MELA-AU 7 157005709 157005709 single base substitution C T intron_variant MELA-AU 7 157006294 157006294 single base substitution G A intron_variant MELA-AU 7 157006700 157006700 single base substitution C T intron_variant MELA-AU 7 157006796 157006796 single base substitution C T intron_variant MELA-AU 7 157007095 157007095 single base substitution C T intron_variant MELA-AU 7 157007583 157007583 single base substitution G A intron_variant MELA-AU 7 157007606 157007606 single base substitution C T intron_variant MELA-AU 7 157007619 157007619 single base substitution G A intron_variant MELA-AU 7 157009165 157009165 single base substitution C T intron_variant MELA-AU 7 157009165 157009165 single base substitution C T upstream_gene_variant MELA-AU 7 157009258 157009258 single base substitution T A intron_variant MELA-AU 7 157009258 157009258 single base substitution T A upstream_gene_variant MELA-AU 7 157010600 157010600 single base substitution C T downstream_gene_variant MELA-AU 7 157010600 157010600 single base substitution C T intron_variant MELA-AU 7 157010600 157010600 single base substitution C T upstream_gene_variant MELA-AU 7 157010720 157010720 insertion of <=200bp - A downstream_gene_variant MELA-AU 7 157010720 157010720 insertion of <=200bp - A intron_variant MELA-AU 7 157010720 157010720 insertion of <=200bp - A upstream_gene_variant MELA-AU 7 157010769 157010769 single base substitution C T downstream_gene_variant MELA-AU 7 157010769 157010769 single base substitution C T intron_variant MELA-AU 7 157010769 157010769 single base substitution C T upstream_gene_variant MELA-AU 7 157010799 157010799 single base substitution C T downstream_gene_variant MELA-AU 7 157010799 157010799 single base substitution C T intron_variant MELA-AU 7 157010799 157010799 single base substitution C T upstream_gene_variant MELA-AU 7 157010994 157010994 single base substitution C T downstream_gene_variant MELA-AU 7 157010994 157010994 single base substitution C T intron_variant MELA-AU 7 157010994 157010994 single base substitution C T upstream_gene_variant MELA-AU 7 157011044 157011044 single base substitution G A downstream_gene_variant MELA-AU 7 157011044 157011044 single base substitution G A intron_variant MELA-AU 7 157011044 157011044 single base substitution G A upstream_gene_variant MELA-AU 7 157011180 157011180 single base substitution C T downstream_gene_variant MELA-AU 7 157011180 157011180 single base substitution C T intron_variant MELA-AU 7 157011180 157011180 single base substitution C T upstream_gene_variant MELA-AU 7 157011461 157011461 single base substitution G T downstream_gene_variant MELA-AU 7 157011461 157011461 single base substitution G T intron_variant MELA-AU 7 157011461 157011461 single base substitution G T upstream_gene_variant MELA-AU 7 157012069 157012069 single base substitution C T downstream_gene_variant MELA-AU 7 157012069 157012069 single base substitution C T intron_variant MELA-AU 7 157012069 157012069 single base substitution C T upstream_gene_variant MELA-AU 7 157012127 157012127 single base substitution C T downstream_gene_variant MELA-AU 7 157012127 157012127 single base substitution C T intron_variant MELA-AU 7 157012127 157012127 single base substitution C T upstream_gene_variant MELA-AU 7 157012418 157012418 single base substitution C T downstream_gene_variant MELA-AU 7 157012418 157012418 single base substitution C T intron_variant MELA-AU 7 157012418 157012418 single base substitution C T upstream_gene_variant MELA-AU 7 157012819 157012819 single base substitution C T downstream_gene_variant MELA-AU 7 157012819 157012819 single base substitution C T intron_variant MELA-AU 7 157012819 157012819 single base substitution C T upstream_gene_variant MELA-AU 7 157013377 157013377 single base substitution C A downstream_gene_variant MELA-AU 7 157013377 157013377 single base substitution C A exon_variant MELA-AU 7 157013377 157013377 single base substitution C A splice_region_variant MELA-AU 7 157013377 157013377 single base substitution C A upstream_gene_variant MELA-AU 7 157013825 157013825 single base substitution G A downstream_gene_variant MELA-AU 7 157013825 157013825 single base substitution G A exon_variant MELA-AU 7 157013825 157013825 single base substitution G A intron_variant MELA-AU 7 157013825 157013825 single base substitution G A upstream_gene_variant MELA-AU 7 157014261 157014261 single base substitution C T downstream_gene_variant MELA-AU 7 157014261 157014261 single base substitution C T exon_variant MELA-AU 7 157014261 157014261 single base substitution C T intron_variant MELA-AU 7 157014261 157014261 single base substitution C T upstream_gene_variant MELA-AU 7 157015125 157015125 single base substitution C T exon_variant MELA-AU 7 157015125 157015125 single base substitution C T intron_variant MELA-AU 7 157015125 157015125 single base substitution C T upstream_gene_variant MELA-AU 7 157016025 157016025 single base substitution C T exon_variant MELA-AU 7 157016025 157016025 single base substitution C T missense_variant P694S 2080C>T MELA-AU 7 157016025 157016025 single base substitution C T upstream_gene_variant MELA-AU 7 157016367 157016367 single base substitution C T intron_variant MELA-AU 7 157016367 157016367 single base substitution C T upstream_gene_variant MELA-AU 7 157016397 157016397 single base substitution C T intron_variant MELA-AU 7 157016397 157016397 single base substitution C T upstream_gene_variant MELA-AU 7 157016664 157016664 single base substitution A G intron_variant MELA-AU 7 157016664 157016664 single base substitution A G upstream_gene_variant MELA-AU 7 157016667 157016667 single base substitution A G intron_variant MELA-AU 7 157016667 157016667 single base substitution A G upstream_gene_variant MELA-AU 7 157016832 157016832 single base substitution T G intron_variant MELA-AU 7 157016832 157016832 single base substitution T G upstream_gene_variant MELA-AU 7 157016908 157016908 single base substitution G A intron_variant MELA-AU 7 157016908 157016908 single base substitution G A upstream_gene_variant MELA-AU 7 157017123 157017123 single base substitution C T intron_variant MELA-AU 7 157017123 157017123 single base substitution C T upstream_gene_variant MELA-AU 7 157017385 157017385 single base substitution C G intron_variant MELA-AU 7 157017385 157017385 single base substitution C G upstream_gene_variant MELA-AU 7 157017603 157017603 single base substitution A G intron_variant MELA-AU 7 157017603 157017603 single base substitution A G upstream_gene_variant MELA-AU 7 157017721 157017721 single base substitution A T intron_variant MELA-AU 7 157017721 157017721 single base substitution A T upstream_gene_variant MELA-AU 7 157017751 157017751 single base substitution C T intron_variant MELA-AU 7 157017751 157017751 single base substitution C T upstream_gene_variant MELA-AU 7 157018392 157018392 single base substitution C T intron_variant MELA-AU 7 157018820 157018820 single base substitution T C intron_variant MELA-AU 7 157019301 157019301 single base substitution A G intron_variant MELA-AU 7 157019439 157019439 single base substitution C T intron_variant MELA-AU 7 157019590 157019590 single base substitution A T intron_variant MELA-AU 7 157020090 157020090 single base substitution T C intron_variant MELA-AU 7 157020831 157020831 single base substitution G A intron_variant MELA-AU 7 157022100 157022100 single base substitution C T intron_variant MELA-AU 7 157022622 157022622 single base substitution T A intron_variant MELA-AU 7 157022624 157022624 single base substitution T A intron_variant MELA-AU 7 157022822 157022822 single base substitution C T intron_variant MELA-AU 7 157022946 157022946 single base substitution C T intron_variant MELA-AU 7 157023139 157023140 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 157023405 157023405 single base substitution A G intron_variant MELA-AU 7 157023412 157023412 single base substitution C T intron_variant MELA-AU 7 157023625 157023625 single base substitution T C intron_variant MELA-AU 7 157023875 157023875 single base substitution G A exon_variant MELA-AU 7 157023875 157023875 single base substitution G A missense_variant E779K 2335G>A MELA-AU 7 157024455 157024455 single base substitution C T exon_variant MELA-AU 7 157024455 157024455 single base substitution C T intron_variant MELA-AU 7 157024936 157024936 single base substitution C T downstream_gene_variant MELA-AU 7 157024936 157024936 single base substitution C T intron_variant MELA-AU 7 157025135 157025135 single base substitution C T downstream_gene_variant MELA-AU 7 157025135 157025135 single base substitution C T intron_variant MELA-AU 7 157025233 157025233 single base substitution G A downstream_gene_variant MELA-AU 7 157025233 157025233 single base substitution G A intron_variant MELA-AU 7 157025735 157025735 single base substitution C T downstream_gene_variant MELA-AU 7 157025735 157025735 single base substitution C T intron_variant MELA-AU 7 157026741 157026741 single base substitution C T downstream_gene_variant MELA-AU 7 157026741 157026741 single base substitution C T intron_variant MELA-AU 7 157027186 157027186 single base substitution A T downstream_gene_variant MELA-AU 7 157027186 157027186 single base substitution A T intron_variant MELA-AU 7 157027554 157027554 single base substitution C T downstream_gene_variant MELA-AU 7 157027554 157027554 single base substitution C T intron_variant MELA-AU 7 157027626 157027626 single base substitution C T downstream_gene_variant MELA-AU 7 157027626 157027626 single base substitution C T intron_variant MELA-AU 7 157027760 157027760 single base substitution C A downstream_gene_variant MELA-AU 7 157027760 157027760 single base substitution C A intron_variant MELA-AU 7 157028335 157028335 single base substitution C T downstream_gene_variant MELA-AU 7 157028335 157028335 single base substitution C T intron_variant MELA-AU 7 157029414 157029414 single base substitution C T downstream_gene_variant MELA-AU 7 157029414 157029414 single base substitution C T intron_variant MELA-AU 7 157029516 157029516 single base substitution C T intron_variant MELA-AU 7 157030773 157030773 single base substitution C T intron_variant MELA-AU 7 157031291 157031291 single base substitution G T intron_variant MELA-AU 7 157031417 157031417 single base substitution T C intron_variant MELA-AU 7 157031473 157031473 single base substitution C T intron_variant MELA-AU 7 157031563 157031563 single base substitution G A intron_variant MELA-AU 7 157033337 157033337 single base substitution G A intron_variant MELA-AU 7 157033501 157033501 single base substitution T G intron_variant MELA-AU 7 157034224 157034224 single base substitution C T intron_variant MELA-AU 7 157034322 157034323 deletion of <=200bp CA - intron_variant MELA-AU 7 157034495 157034495 single base substitution C T intron_variant MELA-AU 7 157034559 157034559 single base substitution G A intron_variant MELA-AU 7 157034561 157034561 single base substitution A T intron_variant MELA-AU 7 157034845 157034845 single base substitution A T intron_variant MELA-AU 7 157035220 157035220 single base substitution T G intron_variant MELA-AU 7 157035513 157035514 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 157036836 157036836 single base substitution A T intron_variant MELA-AU 7 157036878 157036878 single base substitution C T intron_variant MELA-AU 7 157036995 157036995 single base substitution C T intron_variant MELA-AU 7 157038482 157038482 single base substitution C T intron_variant MELA-AU 7 157038639 157038639 single base substitution C T intron_variant MELA-AU 7 157039501 157039501 single base substitution C T intron_variant MELA-AU 7 157040560 157040561 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 157040893 157040893 single base substitution C T intron_variant MELA-AU 7 157041094 157041094 single base substitution C T exon_variant MELA-AU 7 157041094 157041094 single base substitution C T synonymous_variant P838P 2514C>T MELA-AU 7 157041465 157041465 single base substitution C T downstream_gene_variant MELA-AU 7 157041465 157041465 single base substitution C T intron_variant MELA-AU 7 157041581 157041581 single base substitution C T downstream_gene_variant MELA-AU 7 157041581 157041581 single base substitution C T intron_variant MELA-AU 7 157042332 157042332 single base substitution C T downstream_gene_variant MELA-AU 7 157042332 157042332 single base substitution C T intron_variant MELA-AU 7 157042848 157042848 single base substitution G T downstream_gene_variant MELA-AU 7 157042848 157042848 single base substitution G T intron_variant MELA-AU 7 157043375 157043375 single base substitution C T downstream_gene_variant MELA-AU 7 157043375 157043375 single base substitution C T intron_variant MELA-AU 7 157043381 157043381 single base substitution C T downstream_gene_variant MELA-AU 7 157043381 157043381 single base substitution C T intron_variant MELA-AU 7 157043776 157043776 single base substitution G A downstream_gene_variant MELA-AU 7 157043776 157043776 single base substitution G A intron_variant MELA-AU 7 157043981 157043981 single base substitution C T downstream_gene_variant MELA-AU 7 157043981 157043981 single base substitution C T intron_variant MELA-AU 7 157044588 157044588 single base substitution G A downstream_gene_variant MELA-AU 7 157044588 157044588 single base substitution G A intron_variant MELA-AU 7 157044588 157044588 single base substitution G A upstream_gene_variant MELA-AU 7 157046142 157046142 single base substitution C T downstream_gene_variant MELA-AU 7 157046142 157046142 single base substitution C T intron_variant MELA-AU 7 157046142 157046142 single base substitution C T upstream_gene_variant MELA-AU 7 157046665 157046665 single base substitution C T exon_variant MELA-AU 7 157046665 157046665 single base substitution C T synonymous_variant F904F 2712C>T MELA-AU 7 157046665 157046665 single base substitution C T upstream_gene_variant MELA-AU 7 157046932 157046932 single base substitution C T splice_region_variant MELA-AU 7 157046932 157046932 single base substitution C T upstream_gene_variant MELA-AU 7 157047100 157047100 single base substitution T A intron_variant MELA-AU 7 157047100 157047100 single base substitution T A upstream_gene_variant MELA-AU 7 157047477 157047477 single base substitution G T intron_variant MELA-AU 7 157047477 157047477 single base substitution G T upstream_gene_variant MELA-AU 7 157047500 157047500 single base substitution G A intron_variant MELA-AU 7 157047500 157047500 single base substitution G A upstream_gene_variant MELA-AU 7 157047500 157047501 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 157047500 157047501 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 157048818 157048818 single base substitution C T intron_variant MELA-AU 7 157048818 157048818 single base substitution C T upstream_gene_variant MELA-AU 7 157049650 157049650 single base substitution G A exon_variant MELA-AU 7 157049650 157049650 single base substitution G A missense_variant R998K 2993G>A MELA-AU 7 157049751 157049751 single base substitution C T intron_variant MELA-AU 7 157049851 157049851 single base substitution C T intron_variant MELA-AU 7 157049891 157049891 single base substitution T A intron_variant MELA-AU 7 157050632 157050632 single base substitution C T intron_variant MELA-AU 7 157051002 157051002 single base substitution C T intron_variant MELA-AU 7 157051504 157051504 deletion of <=200bp C - intron_variant MELA-AU 7 157051668 157051668 single base substitution C T intron_variant MELA-AU 7 157052073 157052073 single base substitution C T intron_variant MELA-AU 7 157052502 157052502 single base substitution C T intron_variant MELA-AU 7 157053582 157053582 single base substitution G A intron_variant MELA-AU 7 157053623 157053623 single base substitution C T intron_variant MELA-AU 7 157053808 157053808 single base substitution C T intron_variant MELA-AU 7 157055235 157055235 single base substitution C T intron_variant MELA-AU 7 157055237 157055237 single base substitution C T intron_variant MELA-AU 7 157055513 157055513 single base substitution A T intron_variant MELA-AU 7 157055754 157055754 single base substitution C T intron_variant MELA-AU 7 157055807 157055807 single base substitution C A intron_variant MELA-AU 7 157055860 157055860 single base substitution C T intron_variant MELA-AU 7 157055865 157055865 single base substitution C T intron_variant MELA-AU 7 157055867 157055867 single base substitution C T intron_variant MELA-AU 7 157056043 157056043 single base substitution C T intron_variant MELA-AU 7 157056306 157056306 single base substitution C T intron_variant MELA-AU 7 157056572 157056572 single base substitution C T intron_variant MELA-AU 7 157057891 157057891 single base substitution C T intron_variant MELA-AU 7 157059142 157059142 single base substitution T C intron_variant MELA-AU 7 157059234 157059234 single base substitution C A intron_variant MELA-AU 7 157059675 157059675 single base substitution A G intron_variant MELA-AU 7 157059699 157059699 single base substitution T A intron_variant MELA-AU 7 157059990 157059990 single base substitution C T intron_variant MELA-AU 7 157060030 157060030 single base substitution C T intron_variant MELA-AU 7 157060103 157060103 single base substitution T C intron_variant MELA-AU 7 157060429 157060429 single base substitution G A downstream_gene_variant MELA-AU 7 157060429 157060429 single base substitution G A exon_variant MELA-AU 7 157060429 157060429 single base substitution G A missense_variant A1078T 3232G>A MELA-AU 7 157060980 157060980 single base substitution G A 3_prime_UTR_variant MELA-AU 7 157060980 157060980 single base substitution G A downstream_gene_variant MELA-AU 7 157060980 157060980 single base substitution G A exon_variant MELA-AU 7 157061069 157061069 single base substitution C T 3_prime_UTR_variant MELA-AU 7 157061069 157061069 single base substitution C T downstream_gene_variant MELA-AU 7 157061069 157061069 single base substitution C T exon_variant MELA-AU 7 157061873 157061873 single base substitution T A 3_prime_UTR_variant MELA-AU 7 157061873 157061873 single base substitution T A downstream_gene_variant MELA-AU 7 157061930 157061930 single base substitution G A 3_prime_UTR_variant MELA-AU 7 157061930 157061930 single base substitution G A downstream_gene_variant MELA-AU 7 157062590 157062590 single base substitution C T downstream_gene_variant MELA-AU 7 157062740 157062740 single base substitution A C downstream_gene_variant MELA-AU 7 157062915 157062915 single base substitution C T downstream_gene_variant MELA-AU 7 157063714 157063714 single base substitution C T downstream_gene_variant MELA-AU 7 157063835 157063835 single base substitution G A downstream_gene_variant MELA-AU 7 157064321 157064321 single base substitution A G downstream_gene_variant MELA-AU 7 157064468 157064474 deletion of <=200bp CATGGTC - downstream_gene_variant MELA-AU 7 157065353 157065353 single base substitution G C downstream_gene_variant MELA-AU 7 157065639 157065639 single base substitution T C downstream_gene_variant MELA-AU 7 157065814 157065814 single base substitution C T downstream_gene_variant MELA-AU 7 157066042 157066042 single base substitution G A downstream_gene_variant MELA-AU 7 157066236 157066236 single base substitution C T downstream_gene_variant MELA-AU 7 157066425 157066425 single base substitution C T downstream_gene_variant MELA-AU 7 157066586 157066586 single base substitution C T downstream_gene_variant ORCA-IN 7 156951708 156951708 single base substitution G A intron_variant ORCA-IN 7 156957545 156957545 single base substitution G A intron_variant ORCA-IN 7 156960388 156960388 single base substitution G A intron_variant ORCA-IN 7 156962611 156962611 single base substitution C G intron_variant ORCA-IN 7 156974866 156974866 single base substitution C A missense_variant H236N 706C>A ORCA-IN 7 156974866 156974866 single base substitution C A missense_variant H279N 835C>A ORCA-IN 7 156996156 156996156 single base substitution G C intron_variant ORCA-IN 7 156996156 156996156 single base substitution G C upstream_gene_variant ORCA-IN 7 157000233 157000233 single base substitution C T exon_variant ORCA-IN 7 157000233 157000233 single base substitution C T synonymous_variant F520F 1560C>T ORCA-IN 7 157002267 157002267 single base substitution A C intron_variant ORCA-IN 7 157035209 157035209 insertion of <=200bp - TG intron_variant ORCA-IN 7 157050640 157050640 deletion of <=200bp C - intron_variant ORCA-IN 7 157056749 157056749 single base substitution G A intron_variant ORCA-IN 7 157060318 157060318 single base substitution G A exon_variant ORCA-IN 7 157060318 157060318 single base substitution G A missense_variant D1041N 3121G>A ORCA-IN 7 157060365 157060365 single base substitution G A exon_variant ORCA-IN 7 157060365 157060365 single base substitution G A synonymous_variant K1056K 3168G>A OV-AU 7 156932885 156932885 single base substitution G C intron_variant OV-AU 7 156935674 156935674 single base substitution G A intron_variant OV-AU 7 156937357 156937357 single base substitution A T intron_variant OV-AU 7 156945693 156945693 single base substitution C G intron_variant OV-AU 7 156957562 156957562 single base substitution C T intron_variant OV-AU 7 156957683 156957683 single base substitution G T intron_variant OV-AU 7 156958646 156958646 single base substitution G C intron_variant OV-AU 7 156960318 156960318 single base substitution A C intron_variant OV-AU 7 156965956 156965956 single base substitution G C downstream_gene_variant OV-AU 7 156965956 156965956 single base substitution G C intron_variant OV-AU 7 156969640 156969640 single base substitution C T intron_variant OV-AU 7 156973044 156973044 single base substitution T A intron_variant OV-AU 7 156973399 156973399 single base substitution T A intron_variant OV-AU 7 156979488 156979488 single base substitution G C intron_variant OV-AU 7 156982618 156982618 single base substitution C A downstream_gene_variant OV-AU 7 156982618 156982618 single base substitution C A intron_variant OV-AU 7 157000233 157000233 single base substitution C T exon_variant OV-AU 7 157000233 157000233 single base substitution C T synonymous_variant F520F 1560C>T OV-AU 7 157001284 157001284 single base substitution C T intron_variant OV-AU 7 157010705 157010705 single base substitution A C downstream_gene_variant OV-AU 7 157010705 157010705 single base substitution A C intron_variant OV-AU 7 157010705 157010705 single base substitution A C upstream_gene_variant OV-AU 7 157017486 157017486 single base substitution A T intron_variant OV-AU 7 157017486 157017486 single base substitution A T upstream_gene_variant OV-AU 7 157018541 157018541 single base substitution A G intron_variant OV-AU 7 157031928 157031928 single base substitution A G intron_variant OV-AU 7 157036111 157036111 single base substitution C G intron_variant OV-AU 7 157037698 157037698 single base substitution A T intron_variant OV-AU 7 157038043 157038043 single base substitution G A intron_variant OV-AU 7 157039430 157039430 single base substitution A G intron_variant OV-AU 7 157040435 157040435 single base substitution T C intron_variant OV-AU 7 157040869 157040869 single base substitution G A intron_variant OV-AU 7 157056426 157056426 single base substitution A T intron_variant OV-AU 7 157059679 157059679 single base substitution C T intron_variant OV-AU 7 157061518 157061518 single base substitution T C 3_prime_UTR_variant OV-AU 7 157061518 157061518 single base substitution T C downstream_gene_variant OV-AU 7 157061518 157061518 single base substitution T C exon_variant OV-AU 7 157064711 157064711 single base substitution G C downstream_gene_variant OV-US 7 157041088 157041088 single base substitution G A exon_variant OV-US 7 157041088 157041088 single base substitution G A synonymous_variant E836E 2508G>A PACA-AU 7 156928983 156928983 single base substitution G A upstream_gene_variant PACA-AU 7 156940596 156940596 single base substitution T C intron_variant PACA-AU 7 156940989 156940989 single base substitution G T intron_variant PACA-AU 7 156943919 156943919 single base substitution C T intron_variant PACA-AU 7 156960244 156960244 single base substitution T G intron_variant PACA-AU 7 156961631 156961631 single base substitution T G intron_variant PACA-AU 7 156972053 156972053 single base substitution T C intron_variant PACA-AU 7 156975445 156975445 single base substitution G A intron_variant PACA-AU 7 156977031 156977031 single base substitution G A intron_variant PACA-AU 7 156987630 156987630 single base substitution G A intron_variant PACA-AU 7 156988949 156988949 single base substitution G A intron_variant PACA-AU 7 156989693 156989693 single base substitution T G intron_variant PACA-AU 7 156993205 156993205 single base substitution G C intron_variant PACA-AU 7 156996211 156996211 single base substitution G A intron_variant PACA-AU 7 156996211 156996211 single base substitution G A upstream_gene_variant PACA-AU 7 157007938 157007938 single base substitution T C intron_variant PACA-AU 7 157013498 157013498 single base substitution G A downstream_gene_variant PACA-AU 7 157013498 157013498 single base substitution G A exon_variant PACA-AU 7 157013498 157013498 single base substitution G A intron_variant PACA-AU 7 157013498 157013498 single base substitution G A upstream_gene_variant PACA-AU 7 157016992 157016992 single base substitution G T intron_variant PACA-AU 7 157016992 157016992 single base substitution G T upstream_gene_variant PACA-AU 7 157022622 157022622 single base substitution T A intron_variant PACA-AU 7 157022626 157022626 single base substitution T A intron_variant PACA-AU 7 157023449 157023449 single base substitution G A intron_variant PACA-AU 7 157029545 157029545 single base substitution C G intron_variant PACA-AU 7 157031590 157031590 single base substitution A C intron_variant PACA-AU 7 157045265 157045265 single base substitution G T downstream_gene_variant PACA-AU 7 157045265 157045265 single base substitution G T intron_variant PACA-AU 7 157045265 157045265 single base substitution G T upstream_gene_variant PACA-AU 7 157047099 157047099 insertion of <=200bp - TA intron_variant PACA-AU 7 157047099 157047099 insertion of <=200bp - TA upstream_gene_variant PACA-AU 7 157047648 157047648 single base substitution C T intron_variant PACA-AU 7 157047648 157047648 single base substitution C T upstream_gene_variant PACA-AU 7 157049561 157049561 single base substitution G A exon_variant PACA-AU 7 157049561 157049561 single base substitution G A intron_variant PACA-AU 7 157057900 157057900 single base substitution G A intron_variant PACA-AU 7 157061233 157061233 single base substitution G T 3_prime_UTR_variant PACA-AU 7 157061233 157061233 single base substitution G T downstream_gene_variant PACA-AU 7 157061233 157061233 single base substitution G T exon_variant PACA-CA 7 156931393 156931393 single base substitution C T upstream_gene_variant PACA-CA 7 156931967 156931967 single base substitution A G start_lost M1V 1A>G PACA-CA 7 156931967 156931967 single base substitution A G upstream_gene_variant PACA-CA 7 156935228 156935228 single base substitution G T intron_variant PACA-CA 7 156937385 156937385 single base substitution A T intron_variant PACA-CA 7 156938503 156938503 single base substitution C G intron_variant PACA-CA 7 156941445 156941445 single base substitution C T intron_variant PACA-CA 7 156948124 156948124 insertion of <=200bp - T intron_variant PACA-CA 7 156950683 156950683 single base substitution G T intron_variant PACA-CA 7 156950685 156950685 single base substitution G T intron_variant PACA-CA 7 156952515 156952515 insertion of <=200bp - A intron_variant PACA-CA 7 156952934 156952934 single base substitution G A intron_variant PACA-CA 7 156958303 156958303 single base substitution G T intron_variant PACA-CA 7 156958358 156958358 single base substitution G A intron_variant PACA-CA 7 156962924 156962924 single base substitution C T intron_variant PACA-CA 7 156969160 156969160 single base substitution G C intron_variant PACA-CA 7 156971147 156971147 single base substitution G A intron_variant PACA-CA 7 156973597 156973597 insertion of <=200bp - GCAGG intron_variant PACA-CA 7 156975890 156975890 single base substitution G C intron_variant PACA-CA 7 156977460 156977460 single base substitution C T intron_variant PACA-CA 7 156979917 156979917 single base substitution C T intron_variant PACA-CA 7 156980382 156980382 single base substitution T C intron_variant PACA-CA 7 156981157 156981157 single base substitution C T intron_variant PACA-CA 7 156983459 156983459 single base substitution C A downstream_gene_variant PACA-CA 7 156983459 156983459 single base substitution C A intron_variant PACA-CA 7 156984284 156984284 single base substitution G C downstream_gene_variant PACA-CA 7 156984284 156984284 single base substitution G C intron_variant PACA-CA 7 156987390 156987390 single base substitution G A intron_variant PACA-CA 7 156988295 156988295 single base substitution C T intron_variant PACA-CA 7 156990748 156990748 single base substitution G A intron_variant PACA-CA 7 157002807 157002807 single base substitution G A intron_variant PACA-CA 7 157002991 157002991 single base substitution A T intron_variant PACA-CA 7 157004807 157004807 single base substitution C T intron_variant PACA-CA 7 157004982 157004982 single base substitution T G intron_variant PACA-CA 7 157005015 157005015 single base substitution C A intron_variant PACA-CA 7 157005074 157005074 deletion of <=200bp C - intron_variant PACA-CA 7 157005456 157005456 insertion of <=200bp - T intron_variant PACA-CA 7 157011692 157011692 single base substitution G C downstream_gene_variant PACA-CA 7 157011692 157011692 single base substitution G C intron_variant PACA-CA 7 157011692 157011692 single base substitution G C upstream_gene_variant PACA-CA 7 157013171 157013171 single base substitution G A downstream_gene_variant PACA-CA 7 157013171 157013171 single base substitution G A intron_variant PACA-CA 7 157013171 157013171 single base substitution G A upstream_gene_variant PACA-CA 7 157015655 157015655 single base substitution A T exon_variant PACA-CA 7 157015655 157015655 single base substitution A T intron_variant PACA-CA 7 157015655 157015655 single base substitution A T upstream_gene_variant PACA-CA 7 157016799 157016799 single base substitution C T intron_variant PACA-CA 7 157016799 157016799 single base substitution C T upstream_gene_variant PACA-CA 7 157017486 157017486 insertion of <=200bp - CACACT intron_variant PACA-CA 7 157017486 157017486 insertion of <=200bp - CACACT upstream_gene_variant PACA-CA 7 157021319 157021319 single base substitution G A intron_variant PACA-CA 7 157029911 157029911 single base substitution A G intron_variant PACA-CA 7 157032183 157032183 single base substitution C T intron_variant PACA-CA 7 157035259 157035259 single base substitution A G intron_variant PACA-CA 7 157035381 157035381 single base substitution T C intron_variant PACA-CA 7 157035408 157035408 single base substitution G A intron_variant PACA-CA 7 157044763 157044763 single base substitution G C downstream_gene_variant PACA-CA 7 157044763 157044763 single base substitution G C intron_variant PACA-CA 7 157044763 157044763 single base substitution G C upstream_gene_variant PACA-CA 7 157052600 157052600 single base substitution A C intron_variant PACA-CA 7 157057032 157057032 single base substitution C T intron_variant PACA-CA 7 157057136 157057136 single base substitution A C intron_variant PACA-CA 7 157057157 157057160 deletion of <=200bp ACAC - intron_variant PACA-CA 7 157057280 157057280 single base substitution C G intron_variant PACA-CA 7 157057892 157057892 single base substitution G T intron_variant PACA-CA 7 157059725 157059725 single base substitution C T intron_variant PACA-CA 7 157063050 157063050 single base substitution G C downstream_gene_variant PAEN-AU 7 156934351 156934351 single base substitution C T intron_variant PAEN-AU 7 156973017 156973017 insertion of <=200bp - A intron_variant PAEN-AU 7 156974451 156974451 single base substitution A G intron_variant PAEN-AU 7 156981140 156981140 single base substitution G T intron_variant PAEN-AU 7 156998924 156998924 single base substitution A G intron_variant PAEN-AU 7 156998924 156998924 single base substitution A G upstream_gene_variant PAEN-AU 7 157006142 157006142 single base substitution A G intron_variant PAEN-AU 7 157045103 157045103 single base substitution A T downstream_gene_variant PAEN-AU 7 157045103 157045103 single base substitution A T intron_variant PAEN-AU 7 157045103 157045103 single base substitution A T upstream_gene_variant PAEN-IT 7 157059620 157059620 single base substitution G T intron_variant PBCA-DE 7 156928115 156928116 deletion of <=200bp CC - upstream_gene_variant PBCA-DE 7 156929804 156929805 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 7 156932105 156932105 single base substitution C T intron_variant PBCA-DE 7 156947012 156947012 insertion of <=200bp - A intron_variant PBCA-DE 7 156948824 156948824 deletion of <=200bp G - intron_variant PBCA-DE 7 156950668 156950669 deletion of <=200bp AT - intron_variant PBCA-DE 7 156967373 156967373 insertion of <=200bp - CC downstream_gene_variant PBCA-DE 7 156967373 156967373 insertion of <=200bp - CC intron_variant PBCA-DE 7 156975455 156975455 deletion of <=200bp G - intron_variant PBCA-DE 7 156977235 156977235 single base substitution G T intron_variant PBCA-DE 7 156978816 156978816 single base substitution T A intron_variant PBCA-DE 7 156982729 156982730 deletion of <=200bp AG - downstream_gene_variant PBCA-DE 7 156982729 156982730 deletion of <=200bp AG - intron_variant PBCA-DE 7 156990286 156990286 single base substitution G T intron_variant PBCA-DE 7 156994921 156994921 single base substitution C T intron_variant PBCA-DE 7 157000992 157000992 single base substitution A T intron_variant PBCA-DE 7 157003862 157003863 deletion of <=200bp GA - intron_variant PBCA-DE 7 157023760 157023760 insertion of <=200bp - T intron_variant PBCA-DE 7 157030135 157030135 insertion of <=200bp - A intron_variant PBCA-DE 7 157031077 157031077 single base substitution G C intron_variant PBCA-DE 7 157055550 157055550 single base substitution T C intron_variant PBCA-DE 7 157055867 157055867 single base substitution C T intron_variant PBCA-DE 7 157056515 157056515 single base substitution A C intron_variant PRAD-CA 7 156928854 156928854 single base substitution C A upstream_gene_variant PRAD-CA 7 156944141 156944141 single base substitution A G intron_variant PRAD-CA 7 156944310 156944310 single base substitution A G intron_variant PRAD-CA 7 156959633 156959633 single base substitution G T intron_variant PRAD-CA 7 156968801 156968801 single base substitution A G intron_variant PRAD-CA 7 156991238 156991238 single base substitution A T intron_variant PRAD-CA 7 157017488 157017488 single base substitution T A intron_variant PRAD-CA 7 157017488 157017488 single base substitution T A upstream_gene_variant PRAD-CA 7 157022210 157022210 single base substitution C T intron_variant PRAD-CA 7 157047555 157047555 single base substitution G A intron_variant PRAD-CA 7 157047555 157047555 single base substitution G A upstream_gene_variant PRAD-CA 7 157047649 157047649 single base substitution G A intron_variant PRAD-CA 7 157047649 157047649 single base substitution G A upstream_gene_variant PRAD-CA 7 157062258 157062258 single base substitution C T downstream_gene_variant PRAD-UK 7 156938207 156938207 single base substitution T C intron_variant PRAD-UK 7 156951615 156951615 single base substitution A C intron_variant PRAD-UK 7 156957058 156957058 single base substitution C T intron_variant PRAD-UK 7 156957834 156957834 single base substitution A G intron_variant PRAD-UK 7 156961476 156961476 single base substitution G C intron_variant PRAD-UK 7 156966321 156966321 single base substitution G T downstream_gene_variant PRAD-UK 7 156966321 156966321 single base substitution G T intron_variant PRAD-UK 7 156975801 156975801 single base substitution G T intron_variant PRAD-UK 7 156980069 156980069 single base substitution T C intron_variant PRAD-UK 7 157001809 157001809 single base substitution A T intron_variant PRAD-UK 7 157006169 157006169 single base substitution C T intron_variant PRAD-UK 7 157006170 157006170 single base substitution C T intron_variant PRAD-UK 7 157008044 157008044 single base substitution C T intron_variant PRAD-UK 7 157011739 157011739 single base substitution A G downstream_gene_variant PRAD-UK 7 157011739 157011739 single base substitution A G intron_variant PRAD-UK 7 157011739 157011739 single base substitution A G upstream_gene_variant PRAD-UK 7 157015404 157015404 single base substitution C T exon_variant PRAD-UK 7 157015404 157015404 single base substitution C T intron_variant PRAD-UK 7 157015404 157015404 single base substitution C T upstream_gene_variant PRAD-UK 7 157018338 157018338 single base substitution A G intron_variant PRAD-UK 7 157034928 157034928 single base substitution C T intron_variant PRAD-UK 7 157043374 157043374 single base substitution T G downstream_gene_variant PRAD-UK 7 157043374 157043374 single base substitution T G intron_variant PRAD-UK 7 157046031 157046031 single base substitution A T downstream_gene_variant PRAD-UK 7 157046031 157046031 single base substitution A T intron_variant PRAD-UK 7 157046031 157046031 single base substitution A T upstream_gene_variant PRAD-US 7 157049709 157049709 single base substitution T C exon_variant PRAD-US 7 157049709 157049709 single base substitution T C missense_variant C1018R 3052T>C READ-US 7 157060353 157060353 single base substitution G T exon_variant READ-US 7 157060353 157060353 single base substitution G T missense_variant M1052I 3156G>T RECA-EU 7 156929986 156929986 single base substitution C T upstream_gene_variant RECA-EU 7 156933234 156933234 single base substitution A T intron_variant RECA-EU 7 156949066 156949066 single base substitution T G intron_variant RECA-EU 7 156954892 156954892 single base substitution T A intron_variant RECA-EU 7 156958033 156958033 single base substitution G T intron_variant RECA-EU 7 156961405 156961405 single base substitution T A intron_variant RECA-EU 7 156969315 156969315 single base substitution C T intron_variant RECA-EU 7 156974371 156974371 single base substitution A T splice_region_variant RECA-EU 7 156980901 156980901 single base substitution A C intron_variant RECA-EU 7 156995977 156995977 single base substitution C T intron_variant RECA-EU 7 156995977 156995977 single base substitution C T upstream_gene_variant RECA-EU 7 157000096 157000096 single base substitution A C missense_variant M475L 1423A>C RECA-EU 7 157000096 157000096 single base substitution A C upstream_gene_variant RECA-EU 7 157008928 157008928 single base substitution A G intron_variant RECA-EU 7 157008928 157008928 single base substitution A G upstream_gene_variant RECA-EU 7 157013369 157013369 single base substitution A G downstream_gene_variant RECA-EU 7 157013369 157013369 single base substitution A G exon_variant RECA-EU 7 157013369 157013369 single base substitution A G intron_variant RECA-EU 7 157013369 157013369 single base substitution A G upstream_gene_variant RECA-EU 7 157017490 157017490 single base substitution T A intron_variant RECA-EU 7 157017490 157017490 single base substitution T A upstream_gene_variant RECA-EU 7 157023405 157023405 single base substitution A G intron_variant RECA-EU 7 157033095 157033095 single base substitution T A intron_variant RECA-EU 7 157035211 157035211 single base substitution T G intron_variant RECA-EU 7 157037274 157037274 single base substitution T A intron_variant RECA-EU 7 157051445 157051445 single base substitution T A intron_variant RECA-EU 7 157054115 157054115 single base substitution T C intron_variant RECA-EU 7 157054117 157054117 single base substitution G C intron_variant RECA-EU 7 157057032 157057032 single base substitution C T intron_variant RECA-EU 7 157057082 157057082 single base substitution T C intron_variant RECA-EU 7 157060150 157060150 single base substitution G C intron_variant RECA-EU 7 157064379 157064379 single base substitution T G downstream_gene_variant RECA-EU 7 157066825 157066825 single base substitution C T downstream_gene_variant SKCA-BR 7 156928679 156928679 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 7 156929443 156929443 single base substitution C G upstream_gene_variant SKCA-BR 7 156930455 156930455 single base substitution A C upstream_gene_variant SKCA-BR 7 156933298 156933298 single base substitution C T intron_variant SKCA-BR 7 156934954 156934954 single base substitution C T intron_variant SKCA-BR 7 156938941 156938941 single base substitution C T intron_variant SKCA-BR 7 156938959 156938959 single base substitution G A intron_variant SKCA-BR 7 156939603 156939603 single base substitution C T intron_variant SKCA-BR 7 156942935 156942935 single base substitution T G intron_variant SKCA-BR 7 156942938 156942938 single base substitution T G intron_variant SKCA-BR 7 156943827 156943827 single base substitution C T intron_variant SKCA-BR 7 156945226 156945226 single base substitution C T intron_variant SKCA-BR 7 156946010 156946010 single base substitution C T intron_variant SKCA-BR 7 156947456 156947456 single base substitution T G intron_variant SKCA-BR 7 156949894 156949894 single base substitution C T intron_variant SKCA-BR 7 156950681 156950681 single base substitution T G intron_variant SKCA-BR 7 156952979 156952979 single base substitution G A intron_variant SKCA-BR 7 156954573 156954573 single base substitution C T intron_variant SKCA-BR 7 156957262 156957262 single base substitution C T intron_variant SKCA-BR 7 156957984 156957984 single base substitution C T intron_variant SKCA-BR 7 156959426 156959427 deletion of <=200bp CA - intron_variant SKCA-BR 7 156961680 156961680 insertion of <=200bp - CA intron_variant SKCA-BR 7 156962811 156962812 deletion of <=200bp GT - intron_variant SKCA-BR 7 156964358 156964358 insertion of <=200bp - ATATA downstream_gene_variant SKCA-BR 7 156964358 156964358 insertion of <=200bp - ATATA intron_variant SKCA-BR 7 156964375 156964380 deletion of <=200bp TATATA - downstream_gene_variant SKCA-BR 7 156964375 156964380 deletion of <=200bp TATATA - intron_variant SKCA-BR 7 156964378 156964383 deletion of <=200bp ATATTT - downstream_gene_variant SKCA-BR 7 156964378 156964383 deletion of <=200bp ATATTT - intron_variant SKCA-BR 7 156964381 156964381 insertion of <=200bp - TATATA downstream_gene_variant SKCA-BR 7 156964381 156964381 insertion of <=200bp - TATATA intron_variant SKCA-BR 7 156966167 156966167 single base substitution G C downstream_gene_variant SKCA-BR 7 156966167 156966167 single base substitution G C intron_variant SKCA-BR 7 156966497 156966497 single base substitution C T downstream_gene_variant SKCA-BR 7 156966497 156966497 single base substitution C T intron_variant SKCA-BR 7 156970852 156970852 single base substitution G A intron_variant SKCA-BR 7 156973410 156973410 single base substitution C T intron_variant SKCA-BR 7 156974363 156974363 single base substitution G A splice_region_variant SKCA-BR 7 156975324 156975324 single base substitution C T intron_variant SKCA-BR 7 156977235 156977235 single base substitution G T intron_variant SKCA-BR 7 156980044 156980044 single base substitution G A intron_variant SKCA-BR 7 156980234 156980234 single base substitution C T intron_variant SKCA-BR 7 156982655 156982655 single base substitution C T downstream_gene_variant SKCA-BR 7 156982655 156982655 single base substitution C T intron_variant SKCA-BR 7 156985494 156985494 single base substitution G A downstream_gene_variant SKCA-BR 7 156985494 156985494 single base substitution G A intron_variant SKCA-BR 7 156988576 156988576 single base substitution T G intron_variant SKCA-BR 7 156990051 156990051 single base substitution C T intron_variant SKCA-BR 7 156990123 156990123 single base substitution C T intron_variant SKCA-BR 7 156993901 156993901 single base substitution C T intron_variant SKCA-BR 7 156994311 156994311 single base substitution C T intron_variant SKCA-BR 7 156996155 156996155 single base substitution T G intron_variant SKCA-BR 7 156996155 156996155 single base substitution T G upstream_gene_variant SKCA-BR 7 156998863 156998863 single base substitution A T intron_variant SKCA-BR 7 156998863 156998863 single base substitution A T upstream_gene_variant SKCA-BR 7 157000006 157000006 single base substitution T C intron_variant SKCA-BR 7 157000006 157000006 single base substitution T C upstream_gene_variant SKCA-BR 7 157001637 157001637 single base substitution A G intron_variant SKCA-BR 7 157004761 157004761 single base substitution C T intron_variant SKCA-BR 7 157007374 157007374 single base substitution C T intron_variant SKCA-BR 7 157011258 157011258 single base substitution C T downstream_gene_variant SKCA-BR 7 157011258 157011258 single base substitution C T intron_variant SKCA-BR 7 157011258 157011258 single base substitution C T upstream_gene_variant SKCA-BR 7 157015449 157015449 single base substitution G T exon_variant SKCA-BR 7 157015449 157015449 single base substitution G T intron_variant SKCA-BR 7 157015449 157015449 single base substitution G T upstream_gene_variant SKCA-BR 7 157015815 157015815 single base substitution A G exon_variant SKCA-BR 7 157015815 157015815 single base substitution A G intron_variant SKCA-BR 7 157015815 157015815 single base substitution A G upstream_gene_variant SKCA-BR 7 157018710 157018710 single base substitution T C intron_variant SKCA-BR 7 157020850 157020850 single base substitution C T intron_variant SKCA-BR 7 157020851 157020851 single base substitution C T intron_variant SKCA-BR 7 157022620 157022620 insertion of <=200bp - TTA intron_variant SKCA-BR 7 157027125 157027125 single base substitution C T downstream_gene_variant SKCA-BR 7 157027125 157027125 single base substitution C T intron_variant SKCA-BR 7 157031091 157031091 single base substitution A G intron_variant SKCA-BR 7 157031646 157031646 single base substitution C T intron_variant SKCA-BR 7 157032656 157032656 single base substitution A C intron_variant SKCA-BR 7 157033443 157033443 single base substitution C T intron_variant SKCA-BR 7 157035209 157035209 insertion of <=200bp - TTG intron_variant SKCA-BR 7 157035211 157035211 single base substitution T G intron_variant SKCA-BR 7 157035674 157035674 single base substitution G A intron_variant SKCA-BR 7 157036200 157036200 single base substitution C T intron_variant SKCA-BR 7 157038482 157038482 single base substitution C T intron_variant SKCA-BR 7 157038686 157038686 insertion of <=200bp - CAA intron_variant SKCA-BR 7 157038686 157038687 deletion of <=200bp CA - intron_variant SKCA-BR 7 157039708 157039708 single base substitution C T intron_variant SKCA-BR 7 157040642 157040642 single base substitution A G intron_variant SKCA-BR 7 157047595 157047649 deletion of <=200bp ATACACCTGCAGTCCCAGCGTGGTGGCGTACACCTGCAGTCCCGGCGTGGTGGCG - intron_variant SKCA-BR 7 157047595 157047649 deletion of <=200bp ATACACCTGCAGTCCCAGCGTGGTGGCGTACACCTGCAGTCCCGGCGTGGTGGCG - upstream_gene_variant SKCA-BR 7 157047763 157047763 single base substitution G A intron_variant SKCA-BR 7 157047763 157047763 single base substitution G A upstream_gene_variant SKCA-BR 7 157048484 157048484 single base substitution T A intron_variant SKCA-BR 7 157048484 157048484 single base substitution T A upstream_gene_variant SKCA-BR 7 157050478 157050478 single base substitution C T intron_variant SKCA-BR 7 157052877 157052877 single base substitution T G intron_variant SKCA-BR 7 157053821 157053821 single base substitution A C intron_variant SKCA-BR 7 157054035 157054035 single base substitution C T intron_variant SKCA-BR 7 157055914 157055969 deletion of <=200bp CTAACACCACCTTCCCCGGGCACCTGTCCTAACGCCACCTTCCCAGGCACCTGTCG - intron_variant SKCA-BR 7 157055919 157055919 single base substitution A G intron_variant SKCA-BR 7 157056383 157056383 single base substitution G A intron_variant SKCA-BR 7 157056990 157056992 deletion of <=200bp TAC - intron_variant SKCA-BR 7 157057100 157057106 deletion of <=200bp TACACAC - intron_variant SKCA-BR 7 157059163 157059163 single base substitution C T intron_variant SKCA-BR 7 157063855 157063855 single base substitution C T downstream_gene_variant SKCA-BR 7 157063950 157063950 single base substitution A G downstream_gene_variant SKCM-US 7 156956528 156956528 single base substitution C T exon_variant SKCM-US 7 156956528 156956528 single base substitution C T intron_variant SKCM-US 7 156956528 156956528 single base substitution C T missense_variant R31C 91C>T SKCM-US 7 156961790 156961790 single base substitution C T 3_prime_UTR_variant SKCM-US 7 156961790 156961790 single base substitution C T intron_variant SKCM-US 7 156961790 156961790 single base substitution C T stop_gained R57* 169C>T SKCM-US 7 156967649 156967649 single base substitution C T downstream_gene_variant SKCM-US 7 156967649 156967649 single base substitution C T synonymous_variant L127L 379C>T SKCM-US 7 156967649 156967649 single base substitution C T synonymous_variant L84L 250C>T SKCM-US 7 156967666 156967666 single base substitution G A downstream_gene_variant SKCM-US 7 156967666 156967666 single base substitution G A synonymous_variant L132L 396G>A SKCM-US 7 156967666 156967666 single base substitution G A synonymous_variant L89L 267G>A SKCM-US 7 156971527 156971527 single base substitution A G missense_variant Y158C 473A>G SKCM-US 7 156971527 156971527 single base substitution A G missense_variant Y201C 602A>G SKCM-US 7 156974326 156974326 single base substitution C T missense_variant P201L 602C>T SKCM-US 7 156974326 156974326 single base substitution C T missense_variant P244L 731C>T SKCM-US 7 156974866 156974866 single base substitution C T missense_variant H236Y 706C>T SKCM-US 7 156974866 156974866 single base substitution C T missense_variant H279Y 835C>T SKCM-US 7 156974994 156974994 single base substitution C T synonymous_variant F278F 834C>T SKCM-US 7 156974994 156974994 single base substitution C T synonymous_variant F321F 963C>T SKCM-US 7 156979615 156979615 single base substitution C T synonymous_variant L368L 1102C>T SKCM-US 7 156979615 156979615 single base substitution C T synonymous_variant L411L 1231C>T SKCM-US 7 157000165 157000165 single base substitution C T missense_variant P498S 1492C>T SKCM-US 7 157000165 157000165 single base substitution C T upstream_gene_variant SKCM-US 7 157041160 157041160 single base substitution C T exon_variant SKCM-US 7 157041160 157041160 single base substitution C T synonymous_variant A860A 2580C>T SKCM-US 7 157049715 157049715 single base substitution C T exon_variant SKCM-US 7 157049715 157049715 single base substitution C T stop_gained R1020* 3058C>T SKCM-US 7 157049721 157049721 single base substitution C T exon_variant SKCM-US 7 157049721 157049721 single base substitution C T missense_variant P1022S 3064C>T SKCM-US 7 157060408 157060408 single base substitution C T downstream_gene_variant SKCM-US 7 157060408 157060408 single base substitution C T exon_variant SKCM-US 7 157060408 157060408 single base substitution C T missense_variant L1071F 3211C>T STAD-US 7 156963085 156963085 single base substitution A G 3_prime_UTR_variant STAD-US 7 156963085 156963085 single base substitution A G missense_variant T52A 154A>G STAD-US 7 156963085 156963085 single base substitution A G missense_variant T95A 283A>G STAD-US 7 156976641 156976642 deletion of <=200bp TC - frameshift_variant V311 STAD-US 7 156976641 156976642 deletion of <=200bp TC - frameshift_variant V354 STAD-US 7 157000100 157000100 single base substitution T C missense_variant V476A 1427T>C STAD-US 7 157000100 157000100 single base substitution T C upstream_gene_variant STAD-US 7 157000610 157000610 single base substitution G A exon_variant STAD-US 7 157000610 157000610 single base substitution G A missense_variant R597K 1790G>A STAD-US 7 157009567 157009567 single base substitution A T exon_variant STAD-US 7 157009567 157009567 single base substitution A T missense_variant T606S 1816A>T STAD-US 7 157009567 157009567 single base substitution A T upstream_gene_variant STAD-US 7 157041136 157041136 single base substitution C T exon_variant STAD-US 7 157041136 157041136 single base substitution C T synonymous_variant A852A 2556C>T STAD-US 7 157046671 157046671 single base substitution G A exon_variant STAD-US 7 157046671 157046671 single base substitution G A synonymous_variant G906G 2718G>A STAD-US 7 157046671 157046671 single base substitution G A upstream_gene_variant STAD-US 7 157046698 157046698 single base substitution C T exon_variant STAD-US 7 157046698 157046698 single base substitution C T synonymous_variant N915N 2745C>T STAD-US 7 157046698 157046698 single base substitution C T upstream_gene_variant STAD-US 7 157046707 157046707 single base substitution G A exon_variant STAD-US 7 157046707 157046707 single base substitution G A synonymous_variant A918A 2754G>A STAD-US 7 157046707 157046707 single base substitution G A upstream_gene_variant STAD-US 7 157049683 157049683 single base substitution G A exon_variant STAD-US 7 157049683 157049683 single base substitution G A missense_variant R1009H 3026G>A STAD-US 7 157060400 157060400 single base substitution G A downstream_gene_variant STAD-US 7 157060400 157060400 single base substitution G A exon_variant STAD-US 7 157060400 157060400 single base substitution G A missense_variant S1068N 3203G>A UCEC-US 7 156956529 156956529 single base substitution G A exon_variant UCEC-US 7 156956529 156956529 single base substitution G A intron_variant UCEC-US 7 156956529 156956529 single base substitution G A missense_variant R31H 92G>A UCEC-US 7 156961791 156961791 single base substitution G A 3_prime_UTR_variant UCEC-US 7 156961791 156961791 single base substitution G A intron_variant UCEC-US 7 156961791 156961791 single base substitution G A missense_variant R57Q 170G>A UCEC-US 7 156963054 156963054 single base substitution C T 3_prime_UTR_variant UCEC-US 7 156963054 156963054 single base substitution C T synonymous_variant G41G 123C>T UCEC-US 7 156963054 156963054 single base substitution C T synonymous_variant G84G 252C>T UCEC-US 7 156974362 156974362 single base substitution C T missense_variant A213V 638C>T UCEC-US 7 156974362 156974362 single base substitution C T missense_variant A256V 767C>T UCEC-US 7 156974813 156974813 single base substitution T G missense_variant F218C 653T>G UCEC-US 7 156974813 156974813 single base substitution T G missense_variant F261C 782T>G UCEC-US 7 156975019 156975019 single base substitution T C synonymous_variant L287L 859T>C UCEC-US 7 156975019 156975019 single base substitution T C synonymous_variant L330L 988T>C UCEC-US 7 157000200 157000200 single base substitution T C synonymous_variant H509H 1527T>C UCEC-US 7 157000200 157000200 single base substitution T C upstream_gene_variant UCEC-US 7 157000206 157000206 single base substitution A C synonymous_variant L511L 1533A>C UCEC-US 7 157000206 157000206 single base substitution A C upstream_gene_variant UCEC-US 7 157009619 157009619 single base substitution C A exon_variant UCEC-US 7 157009619 157009619 single base substitution C A missense_variant P623H 1868C>A UCEC-US 7 157009619 157009619 single base substitution C A upstream_gene_variant UCEC-US 7 157016037 157016037 single base substitution C T exon_variant UCEC-US 7 157016037 157016037 single base substitution C T stop_gained R698* 2092C>T UCEC-US 7 157016037 157016037 single base substitution C T upstream_gene_variant UCEC-US 7 157023978 157023978 single base substitution C A exon_variant UCEC-US 7 157023978 157023978 single base substitution C A missense_variant S813Y 2438C>A UCEC-US 7 157041158 157041158 single base substitution G A exon_variant UCEC-US 7 157041158 157041158 single base substitution G A missense_variant A860T 2578G>A UCEC-US 7 157041215 157041215 single base substitution G A exon_variant UCEC-US 7 157041215 157041215 single base substitution G A missense_variant D879N 2635G>A UCEC-US 7 157046958 157046958 single base substitution A C exon_variant UCEC-US 7 157046958 157046958 single base substitution A C missense_variant Q968H 2904A>C UCEC-US 7 157046958 157046958 single base substitution A C upstream_gene_variant UCEC-US 7 157046990 157046990 single base substitution T G exon_variant UCEC-US 7 157046990 157046990 single base substitution T G missense_variant F979C 2936T>G UCEC-US 7 157046990 157046990 single base substitution T G upstream_gene_variant UCEC-US 7 157049657 157049657 single base substitution G T exon_variant UCEC-US 7 157049657 157049657 single base substitution G T synonymous_variant V1000V 3000G>T UCEC-US 7 157060412 157060412 single base substitution A G downstream_gene_variant UCEC-US 7 157060412 157060412 single base substitution A G exon_variant UCEC-US 7 157060412 157060412 single base substitution A G missense_variant Y1072C 3215A>G UCEC-US 7 157060444 157060444 single base substitution A G downstream_gene_variant UCEC-US 7 157060444 157060444 single base substitution A G exon_variant UCEC-US 7 157060444 157060444 single base substitution A G missense_variant S1083G 3247A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AU-6004-01 COSM1449669 c.2281G>T p.G761C Substitution - Missense 7:157231127-157231127 + TCGA-CA-6717-01 COSM1449662 c.781T>G p.F261V Substitution - Missense 7:157182118-157182118 + LUAD-B00523 COSM332128 c.1238G>T p.W413L Substitution - Missense 7:157186928-157186928 + sysucc-1370T COSM5472385 c.1254C>T p.S418S Substitution - coding silent 7:157186944-157186944 + S00827 COSM316330 c.721G>T p.V241F Substitution - Missense 7:157181622-157181622 + Pat_41_B COSM5872365 c.3001G>A p.E1001K Substitution - Missense 7:157256964-157256964 + PD13626a COSM5776863 c.1418+7A>G p.? Unknown 7:157201814-157201814 + pfg016T COSM1643300 c.560_568delATGCTAGCT p.A188_Y190delASY Deletion - In frame 7:157178791-157178799 + TCGA-CG-5726-01 COSM421516 c.3026G>A p.R1009H Substitution - Missense 7:157256989-157256989 + BCB157T COSM4793562 c.1090T>G p.S364A Substitution - Missense 7:157183976-157183976 + TCGA-EK-A3GK-01 COSM3305925 c.2604G>C p.K868N Substitution - Missense 7:157248490-157248490 + TCGA-AN-A046-01 COSM1087908 c.92G>A p.R31H Substitution - Missense 7:157163835-157163835 + pfg008T COSM1643301 c.1484G>A p.R495Q Substitution - Missense 7:157207463-157207463 + TCGA-AA-3715-01 COSM270492 c.1990T>C p.S664P Substitution - Missense 7:157220764-157220764 + OSCC-GB_00440111 COSM3715628 c.3168G>A p.K1056K Substitution - coding silent 7:157267671-157267671 + TCGA-BK-A0C9-01 COSM1087916 c.1901T>A p.I634N Substitution - Missense 7:157216958-157216958 + DLD1 COSM4625980 c.3140C>T p.T1047I Substitution - Missense 7:157267643-157267643 + CSCC-49-T COSM4542637 c.3223G>A p.E1075K Substitution - Missense 7:157267726-157267726 + TCGA-BQ-5884-01 COSM3995473 c.2822A>G p.Q941R Substitution - Missense 7:157254081-157254081 + ACINAR28 COSM1733472 c.1978G>T p.G660C Substitution - Missense 7:157220752-157220752 + TCGA-AP-A056-01 COSM1087911 c.782T>G p.F261C Substitution - Missense 7:157182119-157182119 + CCK81 COSM3305906 c.1807delA p.K603fs*6 Deletion - Frameshift 7:157207933-157207933 + BCB157T COSM4793562 c.1090T>G p.S364A Substitution - Missense 7:157183976-157183976 + TCGA-BF-A1Q0-01 COSM3636750 c.835C>T p.H279Y Substitution - Missense 7:157182172-157182172 + SJHGG034_D COSM4970631 c.1915-6C>T p.? Unknown 7:157220683-157220683 + TCGA-EK-A2RJ-01 COSM4832121 c.2730T>A p.P910P Substitution - coding silent 7:157253989-157253989 + MD-051 COSM303504 c.379C>A p.L127M Substitution - Missense 7:157174955-157174955 + PT21_2 COSM5901522 c.815C>T p.P272L Substitution - Missense 7:157182152-157182152 + TCGA-A8-A09W-01 COSM452792 c.2560G>A p.V854M Substitution - Missense 7:157248446-157248446 + RC-T COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + TCGA-EE-A2M6-06 COSM3636747 c.396G>A p.L132L Substitution - coding silent 7:157174972-157174972 + CHC1598T COSM4788980 c.1331+1G>T p.? Unknown 7:157187022-157187022 + T3091 COSM3305885 c.307delT p.Y105fs*10 Deletion - Frameshift 7:157170415-157170415 + HT115 COSM3305939 c.3218C>T p.A1073V Substitution - Missense 7:157267721-157267721 + 1_PRE-TREATMENT COSM1720895 c.628T>C p.S210P Substitution - Missense 7:157181529-157181529 + LUAD-B00416 COSM331551 c.2596G>T p.V866L Substitution - Missense 7:157248482-157248482 + RC-11 COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + D28 COSM3636751 c.963C>T p.F321F Substitution - coding silent 7:157182300-157182300 + TCGA-BS-A0UJ-01 COSM1087924 c.3215A>G p.Y1072C Substitution - Missense 7:157267718-157267718 + YUZINO COSM1699642 c.847C>T p.P283S Substitution - Missense 7:157182184-157182184 + TCGA-DK-A1AE-01 COSM1312917 c.3241G>C p.E1081Q Substitution - Missense 7:157267744-157267744 + TCGA-06-1804-01 COSM2152499 c.2818C>T p.R940C Substitution - Missense 7:157254077-157254077 + BD57T COSM5510279 c.2123C>T p.A708V Substitution - Missense 7:157225429-157225429 + TCGA-EE-A2GM-06 COSM3636745 c.169C>T p.R57* Substitution - Nonsense 7:157169096-157169096 + YUDARE COSM1699644 c.3211C>T p.L1071F Substitution - Missense 7:157267714-157267714 + C0072T COSM4155673 c.770+6A>T p.? Unknown 7:157181677-157181677 + Gp5D COSM3305934 c.3034C>T p.L1012L Substitution - coding silent 7:157256997-157256997 + SJRHB012_D COSM3737257 c.2448A>T p.R816S Substitution - Missense 7:157231294-157231294 + LUAD-FH5PJ COSM394558 c.1640G>T p.R547L Substitution - Missense 7:157207766-157207766 + TCGA-G4-6320-01 COSM3698304 c.528G>A p.S176S Substitution - coding silent 7:157178759-157178759 + T3062 COSM4738742 c.871G>A p.V291I Substitution - Missense 7:157182208-157182208 + TCGA-AA-3819-01 COSM270996 c.1432T>G p.L478V Substitution - Missense 7:157207411-157207411 + sysucc-783T COSM3832415 c.2695-1G>T p.? Unknown 7:157253953-157253953 + ESO-161 COSM1269640 c.1745_1746insTACT p.S584fs*2 Insertion - Frameshift 7:157207871-157207872 + TCGA-34-5231-01 COSM745709 c.1009G>C p.G337R Substitution - Missense 7:157183895-157183895 + 44T COSM3715628 c.3168G>A p.K1056K Substitution - coding silent 7:157267671-157267671 + TCGA-CD-A4MG-01 COSM3879820 c.2745C>T p.N915N Substitution - coding silent 7:157254004-157254004 + CHC1044T COSM4790957 c.377C>G p.S126C Substitution - Missense 7:157174953-157174953 + TCGA-EE-A181-06 COSM3636751 c.963C>T p.F321F Substitution - coding silent 7:157182300-157182300 + TCGA-AA-A010-01 COSM286239 c.1705C>T p.R569* Substitution - Nonsense 7:157207831-157207831 + TCGA-BH-A18G-01 COSM3832415 c.2695-1G>T p.? Unknown 7:157253953-157253953 + Pat_41_B COSM5872363 c.1747A>G p.T583A Substitution - Missense 7:157207873-157207873 + TCGA-33-4533-01 COSM745707 c.2522G>T p.G841V Substitution - Missense 7:157248408-157248408 + LUAD-S01409 COSM346886 c.1546G>T p.D516Y Substitution - Missense 7:157207525-157207525 + TCGA-41-5651-01 COSM3411864 c.253G>A p.A85T Substitution - Missense 7:157170361-157170361 + TCGA-CG-5721-01 COSM3879815 c.1427T>C p.V476A Substitution - Missense 7:157207406-157207406 + 66 COSM4778130 c.2321G>A p.R774K Substitution - Missense 7:157231167-157231167 + TCGA-CZ-5458-01 COSM485134 c.2150G>A p.G717D Substitution - Missense 7:157225456-157225456 + SJRHB012_S COSM3737257 c.2448A>T p.R816S Substitution - Missense 7:157231294-157231294 + TCGA-AX-A0J0-01 COSM1087912 c.988T>C p.L330L Substitution - coding silent 7:157182325-157182325 + RC-3 COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + 92121 COSM95424 c.1226T>G p.L409R Substitution - Missense 7:157186916-157186916 + DLD1 COSM3305931 c.2934C>T p.S978S Substitution - coding silent 7:157254294-157254294 + TCGA-KK-A59V-01 COSM4878492 c.3052T>C p.C1018R Substitution - Missense 7:157257015-157257015 + HCC2998 COSM286239 c.1705C>T p.R569* Substitution - Nonsense 7:157207831-157207831 + CSCC-20-T COSM4456240 c.1001C>T p.S334F Substitution - Missense 7:157183887-157183887 + 2290929 COSM4440092 c.1143G>A p.P381P Substitution - coding silent 7:157184029-157184029 + 684-02-1TD COSM5418948 c.2002+8C>G p.? Unknown 7:157220784-157220784 + OSCC-GB_00020111 COSM3715627 c.1560C>T p.F520F Substitution - coding silent 7:157207539-157207539 + S00827 COSM316330 c.721G>T p.V241F Substitution - Missense 7:157181622-157181622 + T3090 COSM3305885 c.307delT p.Y105fs*10 Deletion - Frameshift 7:157170415-157170415 + TCGA-BG-A0VZ-01 COSM1087923 c.3000G>T p.V1000V Substitution - coding silent 7:157256963-157256963 + TCGA-AA-3715-01 COSM270491 c.130C>T p.R44* Substitution - Nonsense 7:157169057-157169057 + CHEWS012 COSM4587284 c.2019G>A p.P673P Substitution - coding silent 7:157223270-157223270 + T12 COSM4004393 c.1551C>T p.N517N Substitution - coding silent 7:157207530-157207530 + OSCC-GB_00830111 COSM4889146 c.3121G>A p.D1041N Substitution - Missense 7:157267624-157267624 + TCGA-04-1361-01 COSM81876 c.2508G>A p.E836E Substitution - coding silent 7:157248394-157248394 + CSCC-55-T COSM4515366 c.1066_1067CC>TT p.P356F Substitution - Missense 7:157183952-157183953 + CSCC-55-T COSM4539856 c.2748G>A p.R916R Substitution - coding silent 7:157254007-157254007 + C0058T COSM4155674 c.1423A>C p.M475L Substitution - Missense 7:157207402-157207402 + TCGA-B5-A0JY-01 COSM1087918 c.2438C>A p.S813Y Substitution - Missense 7:157231284-157231284 + HCT15 COSM3305931 c.2934C>T p.S978S Substitution - coding silent 7:157254294-157254294 + T3064 COSM4738741 c.224G>A p.R75H Substitution - Missense 7:157170332-157170332 + TCGA-FS-A4F9-06 COSM3636753 c.1492C>T p.P498S Substitution - Missense 7:157207471-157207471 + CSCC-31-T COSM4479263 c.230C>T p.A77V Substitution - Missense 7:157170338-157170338 + TCGA-ER-A19S-06 COSM3636748 c.602A>G p.Y201C Substitution - Missense 7:157178833-157178833 + TCGA-B5-A11E-01 COSM1087915 c.1868C>A p.P623H Substitution - Missense 7:157216925-157216925 + RC-10 COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + TCGA-AM-5821-01 COSM3762537 c.1503T>C p.Y501Y Substitution - coding silent 7:157207482-157207482 + pfg016T COSM1643302 c.3135_3136insC p.T1047fs*16 Insertion - Frameshift 7:157267638-157267639 + B34-Tumor COSM1755191 c.2290G>T p.E764* Substitution - Nonsense 7:157231136-157231136 + TCGA-BR-6452-01 COSM3879817 c.1816A>T p.T606S Substitution - Missense 7:157216873-157216873 + DLD1 COSM3305890 c.786A>G p.T262T Substitution - coding silent 7:157182123-157182123 + T3152 COSM207034 c.979G>A p.E327K Substitution - Missense 7:157182316-157182316 + TCGA-06-5413 COSM2153191 c.2835T>C p.N945N Substitution - coding silent 7:157254094-157254094 + AOCS-084-1-X COSM3715627 c.1560C>T p.F520F Substitution - coding silent 7:157207539-157207539 + TCGA-G4-6586-01 COSM1449666 c.1498_1499delTT p.F500fs*4 Deletion - Frameshift 7:157207477-157207478 + RC-1 COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + TCGA-A7-A5ZV-01 COSM3832414 c.1663G>C p.G555R Substitution - Missense 7:157207789-157207789 + RC-7 COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + 86563 COSM96258 c.633A>G p.L211L Substitution - coding silent 7:157181534-157181534 + TCGA-D1-A16X-01 COSM1087922 c.2936T>G p.F979C Substitution - Missense 7:157254296-157254296 + CHC1629T COSM4791829 c.380T>A p.L127Q Substitution - Missense 7:157174956-157174956 + TCGA-C5-A1BK-01 COSM4826296 c.1099G>A p.D367N Substitution - Missense 7:157183985-157183985 + EGC3 COSM5062340 c.3094G>A p.A1032T Substitution - Missense 7:157267597-157267597 + HCT15 COSM3305890 c.786A>G p.T262T Substitution - coding silent 7:157182123-157182123 + D2 COSM5007356 c.3069C>G p.L1023L Substitution - coding silent 7:157257032-157257032 + TCGA-22-4595-01 COSM745706 c.3030A>T p.K1010N Substitution - Missense 7:157256993-157256993 + HCC152 COSM3663057 c.1769G>A p.C590Y Substitution - Missense 7:157207895-157207895 + NPC40F COSM4996819 c.1358C>A p.A453D Substitution - Missense 7:157201747-157201747 + 039T COSM1728827 c.1036C>T p.Q346* Substitution - Nonsense 7:157183922-157183922 + HCT-15 COSM1673722 c.2575C>A p.L859I Substitution - Missense 7:157248461-157248461 + HCC078T COSM5806018 c.253G>T p.A85S Substitution - Missense 7:157170361-157170361 + TCGA-DA-A1I2-06 COSM1699644 c.3211C>T p.L1071F Substitution - Missense 7:157267714-157267714 + 2T COSM3715627 c.1560C>T p.F520F Substitution - coding silent 7:157207539-157207539 + pfg217T COSM4763080 c.1361G>A p.R454K Substitution - Missense 7:157201750-157201750 + TCGA-39-5031-01 COSM745711 c.717G>A p.E239E Substitution - coding silent 7:157181618-157181618 + LIM2551 COSM4614047 c.380_383delTGTT p.F128fs*16 Deletion - Frameshift 7:157174956-157174959 + TCGA-G3-A25Z-01 COSM4922042 c.2703A>G p.E901E Substitution - coding silent 7:157253962-157253962 + M14 COSM1673721 c.178A>T p.R60* Substitution - Nonsense 7:157169105-157169105 + T26 COSM5618253 c.1517T>C p.L506S Substitution - Missense 7:157207496-157207496 + pfg019T COSM1643299 c.307_308insT p.Y105fs*5 Insertion - Frameshift 7:157170415-157170416 + TCGA-A3-3346-01 COSM1496549 c.1577-2A>T p.? Unknown 7:157207701-157207701 + PA086 COSM421516 c.3026G>A p.R1009H Substitution - Missense 7:157256989-157256989 + CHC1207T COSM4799948 c.500T>C p.L167P Substitution - Missense 7:157178731-157178731 + RC-4 COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + 2492729 COSM5727878 c.2988C>T p.F996F Substitution - coding silent 7:157256951-157256951 + TCGA-BH-A18Q-01 COSM452791 c.2081C>T p.P694L Substitution - Missense 7:157223332-157223332 + TCGA-EK-A3GK-01 COSM4854370 c.2593G>A p.E865K Substitution - Missense 7:157248479-157248479 + TCGA-BR-8297-01 COSM3879822 c.3203G>A p.S1068N Substitution - Missense 7:157267706-157267706 + TCGA-D5-6920-01 COSM1449664 c.1125C>T p.A375A Substitution - coding silent 7:157184011-157184011 + TCGA-28-5219-01 COSM3411866 c.1469T>C p.F490S Substitution - Missense 7:157207448-157207448 + TCGA-AP-A059-01 COSM1087917 c.2092C>T p.R698* Substitution - Nonsense 7:157223343-157223343 + TCGA-EB-A551-01 COSM3636755 c.3064C>T p.P1022S Substitution - Missense 7:157257027-157257027 + BD176T COSM5494877 c.209G>C p.R70T Substitution - Missense 7:157170317-157170317 + TCGA-BG-A18B-01 COSM1087921 c.2904A>C p.Q968H Substitution - Missense 7:157254264-157254264 + 587356 COSM1231574 c.2690C>T p.A897V Substitution - Missense 7:157248576-157248576 + SNU_20_S1 COSM4420301 c.2481+1G>A p.? Unknown 7:157231328-157231328 + LUAD-E00897 COSM364773 c.97C>T p.Q33* Substitution - Nonsense 7:157163840-157163840 + B34 COSM1755191 c.2290G>T p.E764* Substitution - Nonsense 7:157231136-157231136 + TCGA-GC-A3RC-01 COSM3778280 c.1242G>T p.R414S Substitution - Missense 7:157186932-157186932 + TCGA-BS-A0UF-01 COSM1087914 c.1533A>C p.L511L Substitution - coding silent 7:157207512-157207512 + HCA7 COSM4612213 c.1061_1062delTC p.P356fs*11 Deletion - Frameshift 7:157183947-157183948 + SNU-175 COSM3305891 c.863C>T p.A288V Substitution - Missense 7:157182200-157182200 + LP6005409-DNA_C01 COSM5951831 c.283delA p.T95fs*4 Deletion - Frameshift 7:157170391-157170391 + 219 COSM4425075 c.1389A>G p.I463M Substitution - Missense 7:157201778-157201778 + TCGA-EE-A2GO-06 COSM3636751 c.963C>T p.F321F Substitution - coding silent 7:157182300-157182300 + TCGA-AP-A059-01 COSM1087908 c.92G>A p.R31H Substitution - Missense 7:157163835-157163835 + HCC152T COSM3663057 c.1769G>A p.C590Y Substitution - Missense 7:157207895-157207895 + CHC1207T COSM4799948 c.500T>C p.L167P Substitution - Missense 7:157178731-157178731 + T3340 COSM4738744 c.2667G>A p.V889V Substitution - coding silent 7:157248553-157248553 + HCT8 COSM3305890 c.786A>G p.T262T Substitution - coding silent 7:157182123-157182123 + 86793 COSM96259 c.894G>C p.L298L Substitution - coding silent 7:157182231-157182231 + CHC1598T COSM4788980 c.1331+1G>T p.? Unknown 7:157187022-157187022 + 631092 COSM326803 c.1831A>C p.M611L Substitution - Missense 7:157216888-157216888 + TCGA-C5-A1MH-01 COSM4821002 c.2302G>C p.D768H Substitution - Missense 7:157231148-157231148 + Mx42 COSM50253 c.73A>G p.K25E Substitution - Missense 7:157163816-157163816 + MD-204 COSM303505 c.2070T>A p.P690P Substitution - coding silent 7:157223321-157223321 + SJDOSTEOS002 COSM1643301 c.1484G>A p.R495Q Substitution - Missense 7:157207463-157207463 + pfg008T COSM1643301 c.1484G>A p.R495Q Substitution - Missense 7:157207463-157207463 + CCK81 COSM3305882 c.247G>A p.G83R Substitution - Missense 7:157170355-157170355 + TCGA-MI-A75G-01 COSM4939942 c.778G>C p.V260L Substitution - Missense 7:157182115-157182115 + LIM2405 COSM4613717 c.1504_1505insT p.S504fs*1 Insertion - Frameshift 7:157207483-157207484 + TCGA-A7-A13D-01 COSM452794 c.2856C>G p.L952L Substitution - coding silent 7:157254115-157254115 + CHC1629T COSM4791829 c.380T>A p.L127Q Substitution - Missense 7:157174956-157174956 + TCGA-AP-A0LM-01 COSM1087913 c.1527T>C p.H509H Substitution - coding silent 7:157207506-157207506 + SNU-C2B COSM3305904 c.1498T>C p.F500L Substitution - Missense 7:157207477-157207477 + SC_9103 COSM5556017 c.2313T>C p.G771G Substitution - coding silent 7:157231159-157231159 + TCGA-BR-7197-01 COSM3879816 c.1790G>A p.R597K Substitution - Missense 7:157207916-157207916 + WA16 COSM242156 c.3187G>A p.E1063K Substitution - Missense 7:157267690-157267690 + RK152_C01 COSM3703188 c.2054T>G p.V685G Substitution - Missense 7:157223305-157223305 + HCT15 COSM1673722 c.2575C>A p.L859I Substitution - Missense 7:157248461-157248461 + RC-16 COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + B90-Tumor COSM1755190 c.429G>C p.Q143H Substitution - Missense 7:157175005-157175005 + B90 COSM1755190 c.429G>C p.Q143H Substitution - Missense 7:157175005-157175005 + HCC2998 COSM286239 c.1705C>T p.R569* Substitution - Nonsense 7:157207831-157207831 + LUAD-5V8LT COSM402955 c.1948G>A p.V650M Substitution - Missense 7:157220722-157220722 + Pat_65_A COSM1087920 c.2635G>A p.D879N Substitution - Missense 7:157248521-157248521 + TCGA-BH-A0HA-01 COSM452790 c.1885T>C p.S629P Substitution - Missense 7:157216942-157216942 + TCGA-BP-4970-01 COSM485132 c.343A>G p.I115V Substitution - Missense 7:157174919-157174919 + S01366 COSM316331 c.2709A>C p.K903N Substitution - Missense 7:157253968-157253968 + TCGA-06-5413-01 COSM2153191 c.2835T>C p.N945N Substitution - coding silent 7:157254094-157254094 + TCGA-IR-A3LA-01 COSM4845374 c.3223G>C p.E1075Q Substitution - Missense 7:157267726-157267726 + YUHEF COSM1699643 c.1811T>G p.V604G Substitution - Missense 7:157216868-157216868 + pfg043T COSM4763079 c.685T>C p.S229P Substitution - Missense 7:157181586-157181586 + tumor_4177856 COSM3358114 c.520G>A p.V174I Substitution - Missense 7:157178751-157178751 + ESCC_55 COSM5649739 c.1856G>A p.R619K Substitution - Missense 7:157216913-157216913 + TCGA-66-2794-01 COSM745708 c.1983G>T p.P661P Substitution - coding silent 7:157220757-157220757 + TCGA-39-5019-01 COSM745712 c.427C>T p.Q143* Substitution - Nonsense 7:157175003-157175003 + 2521262 COSM5891999 c.1514C>T p.S505F Substitution - Missense 7:157207493-157207493 + TCGA-AP-A051-01 COSM1087910 c.767C>T p.A256V Substitution - Missense 7:157181668-157181668 + PD22358a COSM5796177 c.2062G>C p.E688Q Substitution - Missense 7:157223313-157223313 + LUAD-RT-S01774 COSM381633 c.3135C>A p.L1045L Substitution - coding silent 7:157267638-157267638 + T2269 COSM4738743 c.1648C>T p.R550* Substitution - Nonsense 7:157207774-157207774 + TCGA-BR-6705-01 COSM3879819 c.2718G>A p.G906G Substitution - coding silent 7:157253977-157253977 + 3101B7_032_T COSM5043261 c.1836G>T p.L612F Substitution - Missense 7:157216893-157216893 + TCGA-F5-6814-01 COSM3431427 c.3156G>T p.M1052I Substitution - Missense 7:157267659-157267659 + TCGA-AX-A05Z-01 COSM1087909 c.170G>A p.R57Q Substitution - Missense 7:157169097-157169097 + Pat_66_A COSM5872362 c.677C>T p.S226F Substitution - Missense 7:157181578-157181578 + TCGA-DK-A3IK-01 COSM1312916 c.1602G>C p.M534I Substitution - Missense 7:157207728-157207728 + TCGA-61-1737-01 COSM1329922 c.551T>G p.V184G Substitution - Missense 7:157178782-157178782 + Pat_41_A COSM5872361 c.223C>T p.R75C Substitution - Missense 7:157170331-157170331 + TCGA-BR-8363-01 COSM3879821 c.2754G>A p.A918A Substitution - coding silent 7:157254013-157254013 + MDA-N COSM1673721 c.178A>T p.R60* Substitution - Nonsense 7:157169105-157169105 + RC-18 COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + Pat_59_B COSM5872364 c.1909G>A p.D637N Substitution - Missense 7:157216966-157216966 + TCGA-EA-A3QE-01 COSM4843481 c.2898T>C p.G966G Substitution - coding silent 7:157254258-157254258 + TCGA-EE-A3AA-06 COSM3636749 c.731C>T p.P244L Substitution - Missense 7:157181632-157181632 + PT43 COSM5926209 c.2207C>T p.A736V Substitution - Missense 7:157225513-157225513 + TCGA-BG-A0VW-01 COSM1087925 c.3247A>G p.S1083G Substitution - Missense 7:157267750-157267750 + TCGA-D1-A167-01 COSM207033 c.252C>T p.G84G Substitution - coding silent 7:157170360-157170360 + TCGA-AA-A010-01 COSM286240 c.2379G>T p.K793N Substitution - Missense 7:157231225-157231225 + SJRHB012_R COSM3737257 c.2448A>T p.R816S Substitution - Missense 7:157231294-157231294 + OSCC-GB_01060111 COSM4882597 c.835C>A p.H279N Substitution - Missense 7:157182172-157182172 + Gp2D COSM3305934 c.3034C>T p.L1012L Substitution - coding silent 7:157256997-157256997 + SNUH_G10_S1 COSM4004393 c.1551C>T p.N517N Substitution - coding silent 7:157207530-157207530 + CHC1044T COSM4790957 c.377C>G p.S126C Substitution - Missense 7:157174953-157174953 + TCGA-A4-8517-01 COSM3995472 c.236T>A p.L79* Substitution - Nonsense 7:157170344-157170344 + TCGA-FW-A3R5-06 COSM3923255 c.2580C>T p.A860A Substitution - coding silent 7:157248466-157248466 + TCGA-B5-A11U-01 COSM1087912 c.988T>C p.L330L Substitution - coding silent 7:157182325-157182325 + TCGA-AD-5900-01 COSM1449663 c.1076C>T p.A359V Substitution - Missense 7:157183962-157183962 + TCGA-06-1804 COSM2152499 c.2818C>T p.R940C Substitution - Missense 7:157254077-157254077 + TCGA-EK-A2R8-01 COSM4822858 c.2373C>T p.F791F Substitution - coding silent 7:157231219-157231219 + 2476_PT COSM3305904 c.1498T>C p.F500L Substitution - Missense 7:157207477-157207477 + TCGA-CW-5583-01 COSM485133 c.667A>G p.I223V Substitution - Missense 7:157181568-157181568 + SJRHB012 COSM3737257 c.2448A>T p.R816S Substitution - Missense 7:157231294-157231294 + TCGA-06-0173-01 COSM3411865 c.1004A>T p.E335V Substitution - Missense 7:157183890-157183890 + Pat_53_B COSM1087910 c.767C>T p.A256V Substitution - Missense 7:157181668-157181668 + ESCC_55 COSM5632097 c.1853delG p.R619fs*41 Deletion - Frameshift 7:157216910-157216910 + 2334187 COSM324158 c.1618G>T p.E540* Substitution - Nonsense 7:157207744-157207744 + TCGA-AP-A0LM-01 COSM1087920 c.2635G>A p.D879N Substitution - Missense 7:157248521-157248521 + SNUH_G16_S1 COSM4004394 c.1613C>G p.T538S Substitution - Missense 7:157207739-157207739 + PTC-7C COSM4162053 c.1960C>A p.R654R Substitution - coding silent 7:157220734-157220734 + TCGA-FW-A3R5-06 COSM3923254 c.91C>T p.R31C Substitution - Missense 7:157163834-157163834 + HCC071T COSM5821629 c.823G>T p.D275Y Substitution - Missense 7:157182160-157182160 + RK140_C01 COSM3703189 c.2100G>A p.K700K Substitution - coding silent 7:157223351-157223351 + T2940 COSM3698304 c.528G>A p.S176S Substitution - coding silent 7:157178759-157178759 + TCGA-ER-A19G-06 COSM3636746 c.379C>T p.L127L Substitution - coding silent 7:157174955-157174955 + RKO COSM3305936 c.3110A>G p.N1037S Substitution - Missense 7:157267613-157267613 + TCGA-AA-A01I-01 COSM287229 c.113A>C p.K38T Substitution - Missense 7:157163856-157163856 + TCGA-61-1740-01 COSM1329921 c.2010G>C p.L670F Substitution - Missense 7:157223261-157223261 + TCGA-46-3767-01 COSM745710 c.764G>T p.G255V Substitution - Missense 7:157181665-157181665 + CHC334T COSM3923254 c.91C>T p.R31C Substitution - Missense 7:157163834-157163834 + TCGA-CJ-4907-01 COSM421516 c.3026G>A p.R1009H Substitution - Missense 7:157256989-157256989 + S01366 COSM316331 c.2709A>C p.K903N Substitution - Missense 7:157253968-157253968 + RC-6 COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + TCGA-IH-A3EA-01 COSM3636754 c.3058C>T p.R1020* Substitution - Nonsense 7:157257021-157257021 + TCGA-AA-A00N-01 COSM277983 c.1552G>A p.E518K Substitution - Missense 7:157207531-157207531 + RC-9 COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + TCGA-D1-A103-01 COSM1087919 c.2578G>A p.A860T Substitution - Missense 7:157248464-157248464 + TCGA-27-1831-01 COSM3411867 c.2563G>A p.D855N Substitution - Missense 7:157248449-157248449 + Au4 COSM5605258 c.527C>T p.S176L Substitution - Missense 7:157178758-157178758 + MDA-MB-435 COSM1673721 c.178A>T p.R60* Substitution - Nonsense 7:157169105-157169105 + 065T COSM1730354 c.649A>T p.S217C Substitution - Missense 7:157181550-157181550 + SNUH_G76_S1 COSM3305937 c.3174C>G p.P1058P Substitution - coding silent 7:157267677-157267677 + RC-5 COSM328631 c.2664T>A p.T888T Substitution - coding silent 7:157248550-157248550 + TCGA-D3-A2J9-06 COSM3636752 c.1231C>T p.L411L Substitution - coding silent 7:157186921-157186921 + TCGA-CG-5723-01 COSM3879818 c.2556C>T p.A852A Substitution - coding silent 7:157248442-157248442 + TCGA-BR-6452-01 COSM3879814 c.283A>G p.T95A Substitution - Missense 7:157170391-157170391 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.118276;Hs.118351 7q36.3 614454

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K38T c.113A>C 7 156956550 COREAD A C Missense p.K903N c.2709A>C 7 157046662 SCLC A C Missense p.M611L c.1831A>C 7 157009582 SCLC A C Missense p.Q968H c.2904A>C 7 157046958 UCEC A G IntronicSNV . c.3082-4321A>G 7 157055958 CLL A G Missense p.I115V c.343A>G 7 156967613 RCCC A G Missense p.I223V c.667A>G 7 156974262 RCCC A G Missense p.I391V c.1171A>G 7 156979555 BRCA A G Missense p.S1083G c.3247A>G 7 157060444 UCEC A G Missense p.S306G c.916A>G 7 156974947 LUAD A G Missense p.Y201C c.602A>G 7 156971527 CM ATGCTAGCT - InFrameDeletion p.A188_Y190delASY c.563_571delCTAGCTATG 7 156971485 STAD A T Missense p.E335V c.1004A>T 7 156976584 GBM A T Missense p.K1010N c.3030A>T 7 157049687 LUSC CC TT Missense p.S82F c.245_246delinsTT 7 156963047 CM - C Frameshift p.T1047Hfs*16 c.3138dupC 7 157060333 STAD C G IntronicSNV . c.2003-806C>G 7 157015142 HC C G Synonymous p.L952L c.2856C>G 7 157046809 BRCA C T 5-UTRSNV . c.1-48C>T 7 156931919 CM C T IntronicSNV . c.1332-3284C>T 7 156991131 CM C T IntronicSNV . c.1332-3716C>T 7 156990699 CM C T IntronicSNV . c.1332-3843C>T 7 156990572 CM C T IntronicSNV . c.2951-65C>T 7 157049543 CM C T IntronicSNV . c.3082-4412C>T 7 157055867 MB C T Missense p.H279Y c.835C>T 7 156974866 CM C T Missense p.L1071F c.3211C>T 7 157060408 CM C T Missense p.P244L c.731C>T 7 156974326 CM C T Missense p.P694L c.2081C>T 7 157016026 BRCA C T Missense p.P804S c.2410C>T 7 157023950 CM C T Missense p.R940C c.2818C>T 7 157046771 GBM C T Missense p.S210F c.629C>T 7 156974224 CM C T Nonsense p.Q143* c.427C>T 7 156967697 LUSC C T Nonsense p.R1020* c.3058C>T 7 157049715 CM C T Nonsense p.R57* c.169C>T 7 156961790 CM C T Synonymous p.F321F c.963C>T 7 156974994 CM C T Synonymous p.L127L c.379C>T 7 156967649 CM C T Synonymous p.L411L c.1231C>T 7 156979615 CM C T Synonymous p.P378P c.1134C>T 7 156976714 CM G A Missense p.A85T c.253G>A 7 156963055 GBM G A Missense p.D855N c.2563G>A 7 157041143 GBM G A Missense p.G717D c.2150G>A 7 157018150 RCCC G A Missense p.G790E c.2369G>A 7 157023909 LUAD G A Missense p.R1009H c.3026G>A 7 157049683 RCCC G A Missense p.R1009H c.3026G>A 7 157049683 STAD G A Missense p.R495Q c.1484G>A 7 157000157 STAD G A Missense p.V174I c.520G>A 7 156971445 DLBCL G A Missense p.V854M c.2560G>A 7 157041140 BRCA G A Synonymous p.E239E c.717G>A 7 156974312 LUSC G A Synonymous p.E836E c.2508G>A 7 157041088 OV G A Synonymous p.G906G c.2718G>A 7 157046671 STAD G A Synonymous p.L132L c.396G>A 7 156967666 CM G C Missense p.E1081Q c.3241G>C 7 157060438 BLCA G C Missense p.G337R c.1009G>C 7 156976589 LUSC G C Missense p.G83A c.248G>C 7 156963050 LUAD G C Missense p.M534I c.1602G>C 7 157000422 BLCA G T Missense p.A234S c.700G>T 7 156974295 LUAD G T Missense p.G255V c.764G>T 7 156974359 LUSC G T Missense p.G841V c.2522G>T 7 157041102 LUSC G T Missense p.V241F c.721G>T 7 156974316 SCLC G T Nonsense p.E540* c.1618G>T 7 157000438 SCLC G T Synonymous p.P661P c.1983G>T 7 157013451 LUSC G T Synonymous p.V1000V c.3000G>T 7 157049657 UCEC - TACT Frameshift p.T583Yfs*3 c.1743_1746dupTACT 7 157000566 ESCA T A Missense p.S489T c.1465T>A 7 157000138 LUAD TCCCAGGTAGTTGAAC - SpliceAcceptorDeletion . c.2695-5_2705delCCCAGGTAGTTGAACT 7 157046642 BRCA T C Missense p.F490S c.1469T>C 7 157000142 GBM T C Synonymous p.G669G c.2007T>C 7 157015952 CM T C Synonymous p.L330L c.988T>C 7 156975019 UCEC T C Synonymous p.N945N c.2835T>C 7 157046788 GBM - T Frameshift p.Y105Lfs*5 c.313dupT 7 156963110 STAD - TGG InFrameInsertion p.L834_V835insG c.2501_2502insTGG 7 157041081 GBM T G Missense p.L478V c.1432T>G 7 157000105 COREAD T G Synonymous p.T180T c.540T>G 7 156971465 STAD T - IntronicDeletion . c.1419-21delT 7 157000065 STAD