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 2 225379488 225379488 + Splice_Site SNP T T A TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr2:225379488T>A c.380A>T c.(379-381)gAc>gTc p.D127V BLCA 2 225343033 225343033 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr2:225343033C>G c.2059G>C c.(2059-2061)Gag>Cag p.E687Q BLCA 2 225360597 225360597 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr2:225360597C>G c.1794G>C c.(1792-1794)caG>caC p.Q598H BLCA 2 225368470 225368470 + Missense_Mutation SNP C C G TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr2:225368470C>G c.1276G>C c.(1276-1278)Gat>Cat p.D426H BLCA 2 225371615 225371615 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 g.chr2:225371615G>T c.989C>A c.(988-990)tCt>tAt p.S330Y BLCA 2 225376176 225376176 + Missense_Mutation SNP T T C TCGA-ZF-A9RE-01A-11D-A38G-08 TCGA-ZF-A9RE-10A-01D-A38J-08 g.chr2:225376176T>C c.778A>G c.(778-780)Att>Gtt p.I260V BLCA 2 225378258 225378258 + Missense_Mutation SNP A A G TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 g.chr2:225378258A>G c.637T>C c.(637-639)Tct>Cct p.S213P BLCA 2 225379487 225379487 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr2:225379487G>T c.381C>A c.(379-381)gaC>gaA p.D127E BLCA 2 225422441 225422441 + Missense_Mutation SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr2:225422441G>A c.199C>T c.(199-201)Cat>Tat p.H67Y BLCA 2 225422513 225422513 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:225422513C>T c.127G>A c.(127-129)Gaa>Aaa p.E43K BRCA 2 225346622 225346622 + Silent SNP G G C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chr2:225346622G>C c.2016C>G c.(2014-2016)gtC>gtG p.V672V BRCA 2 225346783 225346783 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr2:225346783C>G c.1855G>C c.(1855-1857)Gag>Cag p.E619Q BRCA 2 225362533 225362533 + Silent SNP G G A TCGA-C8-A1HE-01A-11D-A188-09 TCGA-C8-A1HE-10A-01D-A13O-09 g.chr2:225362533G>A c.1644C>T c.(1642-1644)ctC>ctT p.L548L BRCA 2 225368387 225368388 + Frame_Shift_Ins INS - - T TCGA-AR-A0U0-01A-11D-A10G-09 TCGA-AR-A0U0-10A-01D-A10G-09 g.chr2:225368387_225368388insT c.1358_1359insA c.(1357-1359)aacfs p.N453fs BRCA 2 225368461 225368461 + Missense_Mutation SNP C C T TCGA-BH-A0EE-01A-11W-A050-09 TCGA-BH-A0EE-10A-01W-A055-09 g.chr2:225368461C>T c.1285G>A c.(1285-1287)Gaa>Aaa p.E429K BRCA 2 225376276 225376276 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr2:225376276T>C c.678A>G c.(676-678)gcA>gcG p.A226A BRCA 2 225378295 225378295 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr2:225378295G>A c.600C>T c.(598-600)gtC>gtT p.V200V BRCA 2 225379404 225379404 + Missense_Mutation SNP C C T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr2:225379404C>T c.464G>A c.(463-465)gGg>gAg p.G155E CESC 2 225339094 225339095 + Splice_Site INS - - CA TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 g.chr2:225339094_225339095insCA c.e16-1 CESC 2 225339095 225339095 + Splice_Site SNP T T A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 g.chr2:225339095T>A c.e16-2 CESC 2 225365091 225365091 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr2:225365091C>T c.1599G>A c.(1597-1599)gaG>gaA p.E533E COAD 2 225339013 225339013 + Silent SNP T T C TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:225339013T>C c.2256A>G c.(2254-2256)gaA>gaG p.E752E COAD 2 225339057 225339057 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr2:225339057G>A c.2212C>T c.(2212-2214)Cca>Tca p.P738S COAD 2 225342928 225342928 + Missense_Mutation SNP G G C TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr2:225342928G>C c.2164C>G c.(2164-2166)Cta>Gta p.L722V COAD 2 225343024 225343024 + Nonsense_Mutation SNP C C A TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr2:225343024C>A c.2068G>T c.(2068-2070)Gaa>Taa p.E690* COAD 2 225346611 225346611 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:225346611G>A c.2027C>T c.(2026-2028)aCa>aTa p.T676I COAD 2 225346735 225346735 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:225346735C>T c.1903G>A c.(1903-1905)Gcc>Acc p.A635T COAD 2 225365093 225365093 + Missense_Mutation SNP C C G TCGA-A6-3810-01A-01W-0995-10 TCGA-A6-3810-11A-01W-0995-10 g.chr2:225365093C>G c.1597G>C c.(1597-1599)Gag>Cag p.E533Q COAD 2 225371690 225371690 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:225371690C>T c.914G>A c.(913-915)cGt>cAt p.R305H COAD 2 225379410 225379410 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr2:225379410C>T c.458G>A c.(457-459)cGt>cAt p.R153H COAD 2 225400347 225400347 + Silent SNP A A G TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr2:225400347A>G c.276T>C c.(274-276)gaT>gaC p.D92D COAD 2 225422490 225422490 + Silent SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:225422490A>G c.150T>C c.(148-150)agT>agC p.S50S COADREAD 2 225339013 225339013 + Silent SNP T T C TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr2:225339013T>C c.2256A>G c.(2254-2256)gaA>gaG p.E752E COADREAD 2 225339057 225339057 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr2:225339057G>A c.2212C>T c.(2212-2214)Cca>Tca p.P738S COADREAD 2 225342928 225342928 + Missense_Mutation SNP G G C TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr2:225342928G>C c.2164C>G c.(2164-2166)Cta>Gta p.L722V COADREAD 2 225343024 225343024 + Nonsense_Mutation SNP C C A TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr2:225343024C>A c.2068G>T c.(2068-2070)Gaa>Taa p.E690* COADREAD 2 225346611 225346611 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:225346611G>A c.2027C>T c.(2026-2028)aCa>aTa p.T676I COADREAD 2 225346735 225346735 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr2:225346735C>T c.1903G>A c.(1903-1905)Gcc>Acc p.A635T COADREAD 2 225365093 225365093 + Missense_Mutation SNP C C G TCGA-A6-3810-01A-01W-0995-10 TCGA-A6-3810-11A-01W-0995-10 g.chr2:225365093C>G c.1597G>C c.(1597-1599)Gag>Cag p.E533Q COADREAD 2 225371690 225371690 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr2:225371690C>T c.914G>A c.(913-915)cGt>cAt p.R305H COADREAD 2 225379410 225379410 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr2:225379410C>T c.458G>A c.(457-459)cGt>cAt p.R153H COADREAD 2 225400347 225400347 + Silent SNP A A G TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr2:225400347A>G c.276T>C c.(274-276)gaT>gaC p.D92D COADREAD 2 225422490 225422490 + Silent SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:225422490A>G c.150T>C c.(148-150)agT>agC p.S50S DLBC 2 225365109 225365109 + Silent SNP T T A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr2:225365109T>A c.1581A>T c.(1579-1581)gcA>gcT p.A527A ESCA 2 225367752 225367752 + Missense_Mutation SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr2:225367752C>T c.1415G>A c.(1414-1416)gGa>gAa p.G472E ESCA 2 225368421 225368421 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr2:225368421G>T c.1325C>A c.(1324-1326)aCa>aAa p.T442K ESCA 2 225371635 225371635 + Silent SNP C C T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 g.chr2:225371635C>T c.969G>A c.(967-969)gaG>gaA p.E323E ESCA 2 225422486 225422486 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 g.chr2:225422486G>A c.154C>T c.(154-156)Ctt>Ttt p.L52F GBMLGG 2 225365132 225365132 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:225365132G>A c.1558C>T c.(1558-1560)Cca>Tca p.P520S HNSC 2 225342966 225342966 + Missense_Mutation SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 g.chr2:225342966C>T c.2126G>A c.(2125-2127)cGg>cAg p.R709Q HNSC 2 225342967 225342967 + Missense_Mutation SNP G G A TCGA-CN-A497-01A-11D-A24D-08 TCGA-CN-A497-10A-01D-A24F-08 g.chr2:225342967G>A c.2125C>T c.(2125-2127)Cgg>Tgg p.R709W HNSC 2 225342986 225342986 + Missense_Mutation SNP C C G TCGA-QK-A8Z9-01B-11D-A391-08 TCGA-QK-A8Z9-10A-01D-A394-08 g.chr2:225342986C>G c.2106G>C c.(2104-2106)gaG>gaC p.E702D HNSC 2 225365129 225365129 + Nonsense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 g.chr2:225365129T>A c.1561A>T c.(1561-1563)Aag>Tag p.K521* HNSC 2 225365164 225365164 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr2:225365164G>A c.1526C>T c.(1525-1527)aCg>aTg p.T509M HNSC 2 225365205 225365205 + Splice_Site SNP C C A TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr2:225365205C>A c.e11-1 HNSC 2 225368438 225368439 + Frame_Shift_Ins INS - - A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 g.chr2:225368438_225368439insA c.1307_1308insT c.(1306-1308)ttgfs p.L436fs HNSC 2 225368470 225368470 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chr2:225368470C>G c.1276G>C c.(1276-1278)Gat>Cat p.D426H HNSC 2 225368493 225368493 + Missense_Mutation SNP A A C TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chr2:225368493A>C c.1253T>G c.(1252-1254)cTt>cGt p.L418R HNSC 2 225371641 225371641 + Missense_Mutation SNP C C G TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr2:225371641C>G c.963G>C c.(961-963)ttG>ttC p.L321F HNSC 2 225376090 225376090 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 g.chr2:225376090C>T c.864G>A c.(862-864)ttG>ttA p.L288L HNSC 2 225376094 225376094 + Missense_Mutation SNP A A C TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 g.chr2:225376094A>C c.860T>G c.(859-861)aTg>aGg p.M287R HNSC 2 225378279 225378279 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 g.chr2:225378279C>G c.616G>C c.(616-618)Gag>Cag p.E206Q HNSC 2 225379381 225379381 + Nonsense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr2:225379381G>A c.487C>T c.(487-489)Caa>Taa p.Q163* HNSC 2 225379491 225379491 + Splice_Site SNP T T C TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr2:225379491T>C c.e4-2 HNSC 2 225400280 225400280 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr2:225400280C>T c.343G>A c.(343-345)Gct>Act p.A115T HNSC 2 225400286 225400286 + Nonsense_Mutation SNP G G A TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr2:225400286G>A c.337C>T c.(337-339)Caa>Taa p.Q113* KIPAN 2 225342980 225342980 + Silent SNP T T C TCGA-EU-5906-01A-11D-1669-08 TCGA-EU-5906-10A-01D-1669-08 g.chr2:225342980T>C c.2112A>G c.(2110-2112)gaA>gaG p.E704E KIPAN 2 225360561 225360561 + Frame_Shift_Del DEL T T - TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr2:225360561delT c.1830delA c.(1828-1830)aaafs p.K610fs KIPAN 2 225360600 225360600 + Missense_Mutation SNP G G T TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr2:225360600G>T c.1791C>A c.(1789-1791)ttC>ttA p.F597L KIPAN 2 225360644 225360645 + Frame_Shift_Ins INS - - TA TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 g.chr2:225360644_225360645insTA c.1746_1747insTA c.(1744-1749)gtaactfs p.T583fs KIPAN 2 225362540 225362540 + Missense_Mutation SNP C C G TCGA-A4-A5Y0-01A-11D-A31X-10 TCGA-A4-A5Y0-11A-11D-A31X-10 g.chr2:225362540C>G c.1637G>C c.(1636-1638)cGa>cCa p.R546P KIPAN 2 225368421 225368421 + Missense_Mutation SNP G G C TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr2:225368421G>C c.1325C>G c.(1324-1326)aCa>aGa p.T442R KIPAN 2 225370726 225370727 + Frame_Shift_Del DEL GA GA - TCGA-BP-5175-01A-01D-1429-08 TCGA-BP-5175-11A-01D-1429-08 g.chr2:225370726_225370727delGA c.1152_1153delTC c.(1150-1155)tctcctfs p.P385fs KIPAN 2 225370771 225370771 + Missense_Mutation SNP T T A TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr2:225370771T>A c.1108A>T c.(1108-1110)Att>Ttt p.I370F KIPAN 2 225378239 225378239 + Splice_Site SNP A A G TCGA-Y8-A8RZ-01A-11D-A36X-10 TCGA-Y8-A8RZ-10A-01D-A370-10 g.chr2:225378239A>G c.e5+1 KIPAN 2 225378264 225378264 + Nonsense_Mutation SNP C C A TCGA-2Z-A9J8-01A-11D-A42J-10 TCGA-2Z-A9J8-10A-01D-A42M-10 g.chr2:225378264C>A c.631G>T c.(631-633)Gaa>Taa p.E211* KIPAN 2 225378264 225378264 + Nonsense_Mutation SNP C C A TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr2:225378264C>A c.631G>T c.(631-633)Gaa>Taa p.E211* KIPAN 2 225379414 225379414 + Missense_Mutation SNP C C T TCGA-CJ-4876-01A-01D-1373-10 TCGA-CJ-4876-11A-01D-1373-10 g.chr2:225379414C>T c.454G>A c.(454-456)Gta>Ata p.V152I KIPAN 2 225422410 225422410 + Missense_Mutation SNP A A G TCGA-AL-7173-01A-11D-2136-08 TCGA-AL-7173-10A-01D-2136-08 g.chr2:225422410A>G c.230T>C c.(229-231)cTa>cCa p.L77P KIPAN 2 225422463 225422463 + Missense_Mutation SNP T T G TCGA-A4-A57E-01A-11D-A26P-10 TCGA-A4-A57E-10A-01D-A26P-10 g.chr2:225422463T>G c.177A>C c.(175-177)agA>agC p.R59S KIPAN 2 225422498 225422498 + Missense_Mutation SNP T T A TCGA-DV-5574-01A-01D-1534-10 TCGA-DV-5574-10A-01D-1535-10 g.chr2:225422498T>A c.142A>T c.(142-144)Aat>Tat p.N48Y KIPAN 2 225422516 225422516 + Nonsense_Mutation SNP G G A TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr2:225422516G>A c.124C>T c.(124-126)Caa>Taa p.Q42* KIPAN 2 225449664 225449664 + Frame_Shift_Del DEL A A - TCGA-2Z-A9J8-01A-11D-A42J-10 TCGA-2Z-A9J8-10A-01D-A42M-10 g.chr2:225449664delA c.63delT c.(61-63)tttfs p.F21fs KIPAN 2 225449678 225449678 + Frame_Shift_Del DEL G G - TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr2:225449678delG c.49delC c.(49-51)cggfs p.R17fs KIPAN 2 225449722 225449722 + Nonsense_Mutation SNP G G T TCGA-AL-7173-01A-11D-2136-08 TCGA-AL-7173-10A-01D-2136-08 g.chr2:225449722G>T c.5C>A c.(4-6)tCg>tAg p.S2* KIRC 2 225342980 225342980 + Silent SNP T T C TCGA-EU-5906-01A-11D-1669-08 TCGA-EU-5906-10A-01D-1669-08 g.chr2:225342980T>C c.2112A>G c.(2110-2112)gaA>gaG p.E704E KIRC 2 225360600 225360600 + Missense_Mutation SNP G G T TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr2:225360600G>T c.1791C>A c.(1789-1791)ttC>ttA p.F597L KIRC 2 225360644 225360645 + Frame_Shift_Ins INS - - TA TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 g.chr2:225360644_225360645insTA c.1746_1747insTA c.(1744-1749)gtaactfs p.T583fs KIRC 2 225368421 225368421 + Missense_Mutation SNP G G C TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr2:225368421G>C c.1325C>G c.(1324-1326)aCa>aGa p.T442R KIRC 2 225370726 225370727 + Frame_Shift_Del DEL GA GA - TCGA-BP-5175-01A-01D-1429-08 TCGA-BP-5175-11A-01D-1429-08 g.chr2:225370726_225370727delGA c.1152_1153delTC c.(1150-1155)tctcctfs p.P385fs KIRC 2 225379414 225379414 + Missense_Mutation SNP C C T TCGA-CJ-4876-01A-01D-1373-10 TCGA-CJ-4876-11A-01D-1373-10 g.chr2:225379414C>T c.454G>A c.(454-456)Gta>Ata p.V152I KIRC 2 225422498 225422498 + Missense_Mutation SNP T T A TCGA-DV-5574-01A-01D-1534-10 TCGA-DV-5574-10A-01D-1535-10 g.chr2:225422498T>A c.142A>T c.(142-144)Aat>Tat p.N48Y KIRP 2 225360561 225360561 + Frame_Shift_Del DEL T T - TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr2:225360561delT c.1830delA c.(1828-1830)aaafs p.K610fs KIRP 2 225362540 225362540 + Missense_Mutation SNP C C G TCGA-A4-A5Y0-01A-11D-A31X-10 TCGA-A4-A5Y0-11A-11D-A31X-10 g.chr2:225362540C>G c.1637G>C c.(1636-1638)cGa>cCa p.R546P KIRP 2 225370771 225370771 + Missense_Mutation SNP T T A TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr2:225370771T>A c.1108A>T c.(1108-1110)Att>Ttt p.I370F KIRP 2 225378239 225378239 + Splice_Site SNP A A G TCGA-Y8-A8RZ-01A-11D-A36X-10 TCGA-Y8-A8RZ-10A-01D-A370-10 g.chr2:225378239A>G c.e5+1 KIRP 2 225378264 225378264 + Nonsense_Mutation SNP C C A TCGA-2Z-A9J8-01A-11D-A42J-10 TCGA-2Z-A9J8-10A-01D-A42M-10 g.chr2:225378264C>A c.631G>T c.(631-633)Gaa>Taa p.E211* KIRP 2 225378264 225378264 + Nonsense_Mutation SNP C C A TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr2:225378264C>A c.631G>T c.(631-633)Gaa>Taa p.E211* KIRP 2 225422410 225422410 + Missense_Mutation SNP A A G TCGA-AL-7173-01A-11D-2136-08 TCGA-AL-7173-10A-01D-2136-08 g.chr2:225422410A>G c.230T>C c.(229-231)cTa>cCa p.L77P KIRP 2 225422463 225422463 + Missense_Mutation SNP T T G TCGA-A4-A57E-01A-11D-A26P-10 TCGA-A4-A57E-10A-01D-A26P-10 g.chr2:225422463T>G c.177A>C c.(175-177)agA>agC p.R59S KIRP 2 225422516 225422516 + Nonsense_Mutation SNP G G A TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr2:225422516G>A c.124C>T c.(124-126)Caa>Taa p.Q42* KIRP 2 225449664 225449664 + Frame_Shift_Del DEL A A - TCGA-2Z-A9J8-01A-11D-A42J-10 TCGA-2Z-A9J8-10A-01D-A42M-10 g.chr2:225449664delA c.63delT c.(61-63)tttfs p.F21fs KIRP 2 225449678 225449678 + Frame_Shift_Del DEL G G - TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr2:225449678delG c.49delC c.(49-51)cggfs p.R17fs KIRP 2 225449722 225449722 + Nonsense_Mutation SNP G G T TCGA-AL-7173-01A-11D-2136-08 TCGA-AL-7173-10A-01D-2136-08 g.chr2:225449722G>T c.5C>A c.(4-6)tCg>tAg p.S2* LAML 2 225449691 225449691 + Missense_Mutation SNP C C A TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 g.chr2:225449691C>A c.36G>T c.(34-36)aaG>aaT p.K12N LGG 2 225365132 225365132 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:225365132G>A c.1558C>T c.(1558-1560)Cca>Tca p.P520S LIHC 2 225367700 225367700 + Silent SNP T T C TCGA-UB-A7MA-01A-11D-A33Q-10 TCGA-UB-A7MA-10A-01D-A33Q-10 g.chr2:225367700T>C c.1467A>G c.(1465-1467)caA>caG p.Q489Q LIHC 2 225368413 225368413 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr2:225368413delT c.1333delA c.(1333-1335)agtfs p.S445fs LIHC 2 225376243 225376243 + Silent SNP T T C TCGA-ED-A7XP-01A-11D-A34Z-10 TCGA-ED-A7XP-10A-01D-A34Z-10 g.chr2:225376243T>C c.711A>G c.(709-711)gtA>gtG p.V237V LIHC 2 225376256 225376256 + Missense_Mutation SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr2:225376256T>C c.698A>G c.(697-699)tAt>tGt p.Y233C LUAD 2 225338975 225338975 + Missense_Mutation SNP G G A TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr2:225338975G>A c.2294C>T c.(2293-2295)aCa>aTa p.T765I LUAD 2 225339003 225339003 + Nonsense_Mutation SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 g.chr2:225339003G>A c.2266C>T c.(2266-2268)Cga>Tga p.R756* LUAD 2 225346795 225346795 + Splice_Site SNP C C A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr2:225346795C>A c.1843G>T c.(1843-1845)Gaa>Taa p.E615* LUAD 2 225362547 225362547 + Missense_Mutation SNP T T A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr2:225362547T>A c.1630A>T c.(1630-1632)Agt>Tgt p.S544C LUAD 2 225362561 225362561 + Missense_Mutation SNP T T C TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chr2:225362561T>C c.1616A>G c.(1615-1617)tAc>tGc p.Y539C LUAD 2 225362566 225362566 + Splice_Site SNP C C G TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr2:225362566C>G c.1611G>C c.(1609-1611)agG>agC p.R537S LUAD 2 225368392 225368392 + Missense_Mutation SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr2:225368392T>C c.1354A>G c.(1354-1356)Aaa>Gaa p.K452E LUAD 2 225376227 225376227 + Missense_Mutation SNP C C T TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr2:225376227C>T c.727G>A c.(727-729)Gaa>Aaa p.E243K LUAD 2 225376300 225376300 + Splice_Site SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 g.chr2:225376300C>T c.e6-1 LUAD 2 225378314 225378314 + Missense_Mutation SNP C C T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr2:225378314C>T c.581G>A c.(580-582)gGt>gAt p.G194D LUAD 2 225379485 225379485 + Missense_Mutation SNP C C G TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr2:225379485C>G c.383G>C c.(382-384)cGt>cCt p.R128P LUAD 2 225422432 225422432 + Missense_Mutation SNP C C G TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr2:225422432C>G c.208G>C c.(208-210)Gga>Cga p.G70R LUAD 2 225422486 225422486 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr2:225422486G>C c.154C>G c.(154-156)Ctt>Gtt p.L52V LUSC 2 225339017 225339017 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr2:225339017C>G c.2252G>C c.(2251-2253)aGa>aCa p.R751T LUSC 2 225339077 225339077 + Missense_Mutation SNP T T A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr2:225339077T>A c.2192A>T c.(2191-2193)aAg>aTg p.K731M LUSC 2 225346608 225346608 + Splice_Site SNP C C T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 g.chr2:225346608C>T c.e14+1 LUSC 2 225346609 225346609 + Splice_Site SNP C C A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr2:225346609C>A c.2029G>T c.(2029-2031)Gtt>Ttt p.V677F LUSC 2 225367790 225367790 + Splice_Site SNP C C T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chr2:225367790C>T c.e10-1 LUSC 2 225371641 225371641 + Missense_Mutation SNP C C G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr2:225371641C>G c.963G>C c.(961-963)ttG>ttC p.L321F LUSC 2 225376190 225376190 + Nonsense_Mutation SNP G G C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr2:225376190G>C c.764C>G c.(763-765)tCa>tGa p.S255* LUSC 2 225376227 225376227 + Missense_Mutation SNP C C T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 g.chr2:225376227C>T c.727G>A c.(727-729)Gaa>Aaa p.E243K LUSC 2 225376242 225376242 + Nonsense_Mutation SNP C C A TCGA-18-4721-01A-01D-1441-08 TCGA-18-4721-11A-01D-1441-08 g.chr2:225376242C>A c.712G>T c.(712-714)Gaa>Taa p.E238* LUSC 2 225378357 225378357 + Splice_Site SNP T T C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr2:225378357T>C c.e5-2 LUSC 2 225422481 225422481 + Missense_Mutation SNP A A C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr2:225422481A>C c.159T>G c.(157-159)agT>agG p.S53R LUSC 2 225422495 225422495 + Missense_Mutation SNP T T C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr2:225422495T>C c.145A>G c.(145-147)Aac>Gac p.N49D LUSC 2 225449700 225449700 + Silent SNP G G A TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr2:225449700G>A c.27C>T c.(25-27)ggC>ggT p.G9G OV 2 225400349 225400349 + Missense_Mutation SNP C C G TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 g.chr2:225400349C>G c.274G>C c.(274-276)Gat>Cat p.D92H PAAD 2 225362504 225362504 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:225362504T>C c.1673A>G c.(1672-1674)gAt>gGt p.D558G PRAD 2 225362501 225362501 + Missense_Mutation SNP A A C TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 g.chr2:225362501A>C c.1676T>G c.(1675-1677)cTc>cGc p.L559R PRAD 2 225370686 225370686 + Missense_Mutation SNP T T C TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 g.chr2:225370686T>C c.1193A>G c.(1192-1194)aAg>aGg p.K398R PRAD 2 225371708 225371708 + Missense_Mutation SNP A A C TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 g.chr2:225371708A>C c.896T>G c.(895-897)aTg>aGg p.M299R PRAD 2 225371708 225371708 + Missense_Mutation SNP A A C TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 g.chr2:225371708A>C c.896T>G c.(895-897)aTg>aGg p.M299R PRAD 2 225379456 225379456 + Missense_Mutation SNP T T C TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 g.chr2:225379456T>C c.412A>G c.(412-414)Aac>Gac p.N138D SARC 2 225449666 225449666 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr2:225449666A>G c.61T>C c.(61-63)Ttt>Ctt p.F21L SKCM 2 225360606 225360606 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr2:225360606G>A c.1785C>T c.(1783-1785)tcC>tcT p.S595S SKCM 2 225365136 225365136 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:225365136G>A c.1554C>T c.(1552-1554)gcC>gcT p.A518A SKCM 2 225367750 225367750 + Missense_Mutation SNP T T A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr2:225367750T>A c.1417A>T c.(1417-1419)Atg>Ttg p.M473L SKCM 2 225370813 225370813 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr2:225370813G>A c.1066C>T c.(1066-1068)Ctc>Ttc p.L356F SKCM 2 225378270 225378270 + Missense_Mutation SNP A A T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:225378270A>T c.625T>A c.(625-627)Ttt>Att p.F209I SKCM 2 225378273 225378273 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:225378273G>A c.622C>T c.(622-624)Cct>Tct p.P208S SKCM 2 225422555 225422555 + Missense_Mutation SNP A A G TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr2:225422555A>G c.85T>C c.(85-87)Tat>Cat p.Y29H

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 2 225362490 225362490 single base substitution A C exon_variant BLCA-CN 2 225362490 225362490 single base substitution A C missense_variant F16V 46T>G BLCA-CN 2 225362490 225362490 single base substitution A C missense_variant F497V 1489T>G BLCA-CN 2 225362490 225362490 single base substitution A C missense_variant F539V 1615T>G BLCA-CN 2 225362490 225362490 single base substitution A C missense_variant F563V 1687T>G BLCA-CN 2 225362490 225362490 single base substitution A C upstream_gene_variant BLCA-US 2 225371615 225371615 single base substitution G T downstream_gene_variant BLCA-US 2 225371615 225371615 single base substitution G T exon_variant BLCA-US 2 225371615 225371615 single base substitution G T missense_variant S264Y 791C>A BLCA-US 2 225371615 225371615 single base substitution G T missense_variant S306Y 917C>A BLCA-US 2 225371615 225371615 single base substitution G T missense_variant S330Y 989C>A BLCA-US 2 225371615 225371615 single base substitution G T upstream_gene_variant BOCA-FR 2 225340438 225340438 single base substitution C T downstream_gene_variant BOCA-FR 2 225340438 225340438 single base substitution C T intron_variant BRCA-EU 2 225332195 225332195 single base substitution T A downstream_gene_variant BRCA-EU 2 225333470 225333470 single base substitution G A downstream_gene_variant BRCA-EU 2 225334007 225334007 single base substitution C T downstream_gene_variant BRCA-EU 2 225335354 225335354 insertion of <=200bp - TC 3_prime_UTR_variant BRCA-EU 2 225335354 225335354 insertion of <=200bp - TC downstream_gene_variant BRCA-EU 2 225337676 225337676 single base substitution G T 3_prime_UTR_variant BRCA-EU 2 225337676 225337676 single base substitution G T downstream_gene_variant BRCA-EU 2 225338147 225338147 single base substitution T A 3_prime_UTR_variant BRCA-EU 2 225338147 225338147 single base substitution T A downstream_gene_variant BRCA-EU 2 225338377 225338377 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 225338377 225338377 single base substitution G C downstream_gene_variant BRCA-EU 2 225339011 225339011 single base substitution T A 3_prime_UTR_variant BRCA-EU 2 225339011 225339011 single base substitution T A downstream_gene_variant BRCA-EU 2 225339011 225339011 single base substitution T A exon_variant BRCA-EU 2 225339011 225339011 single base substitution T A missense_variant Y687F 2060A>T BRCA-EU 2 225339011 225339011 single base substitution T A missense_variant Y729F 2186A>T BRCA-EU 2 225339011 225339011 single base substitution T A missense_variant Y753F 2258A>T BRCA-EU 2 225339011 225339011 single base substitution T A missense_variant Y95F 284A>T BRCA-EU 2 225340085 225340085 single base substitution G A downstream_gene_variant BRCA-EU 2 225340085 225340085 single base substitution G A intron_variant BRCA-EU 2 225342312 225342312 single base substitution C T downstream_gene_variant BRCA-EU 2 225342312 225342312 single base substitution C T intron_variant BRCA-EU 2 225342331 225342331 single base substitution T C downstream_gene_variant BRCA-EU 2 225342331 225342331 single base substitution T C intron_variant BRCA-EU 2 225344147 225344147 single base substitution C T exon_variant BRCA-EU 2 225344147 225344147 single base substitution C T intron_variant BRCA-EU 2 225345308 225345308 single base substitution C T intron_variant BRCA-EU 2 225345308 225345308 single base substitution C T upstream_gene_variant BRCA-EU 2 225346714 225346714 single base substitution G A exon_variant BRCA-EU 2 225346714 225346714 single base substitution G A intron_variant BRCA-EU 2 225346714 225346714 single base substitution G A missense_variant R576W 1726C>T BRCA-EU 2 225346714 225346714 single base substitution G A missense_variant R618W 1852C>T BRCA-EU 2 225346714 225346714 single base substitution G A missense_variant R642W 1924C>T BRCA-EU 2 225346714 225346714 single base substitution G A upstream_gene_variant BRCA-EU 2 225346931 225346931 single base substitution G T intron_variant BRCA-EU 2 225346931 225346931 single base substitution G T upstream_gene_variant BRCA-EU 2 225346959 225346959 single base substitution A C intron_variant BRCA-EU 2 225346959 225346959 single base substitution A C upstream_gene_variant BRCA-EU 2 225347185 225347185 deletion of <=200bp T - intron_variant BRCA-EU 2 225347185 225347185 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 225348489 225348489 single base substitution A G intron_variant BRCA-EU 2 225348489 225348489 single base substitution A G upstream_gene_variant BRCA-EU 2 225348618 225348618 single base substitution A G intron_variant BRCA-EU 2 225348618 225348618 single base substitution A G upstream_gene_variant BRCA-EU 2 225348952 225348952 deletion of <=200bp C - intron_variant BRCA-EU 2 225348952 225348952 deletion of <=200bp C - upstream_gene_variant BRCA-EU 2 225349061 225349061 single base substitution A G intron_variant BRCA-EU 2 225349061 225349061 single base substitution A G upstream_gene_variant BRCA-EU 2 225349587 225349587 single base substitution C T intron_variant BRCA-EU 2 225349587 225349587 single base substitution C T upstream_gene_variant BRCA-EU 2 225351129 225351129 single base substitution G C intron_variant BRCA-EU 2 225351129 225351129 single base substitution G C upstream_gene_variant BRCA-EU 2 225351595 225351595 single base substitution C A intron_variant BRCA-EU 2 225351595 225351595 single base substitution C A upstream_gene_variant BRCA-EU 2 225352945 225352945 single base substitution G C intron_variant BRCA-EU 2 225352945 225352945 single base substitution G C upstream_gene_variant BRCA-EU 2 225353060 225353060 single base substitution G C intron_variant BRCA-EU 2 225353060 225353060 single base substitution G C upstream_gene_variant BRCA-EU 2 225353126 225353126 single base substitution C T intron_variant BRCA-EU 2 225353126 225353126 single base substitution C T upstream_gene_variant BRCA-EU 2 225353127 225353127 single base substitution A G intron_variant BRCA-EU 2 225353127 225353127 single base substitution A G upstream_gene_variant BRCA-EU 2 225353148 225353148 single base substitution G C intron_variant BRCA-EU 2 225353148 225353148 single base substitution G C upstream_gene_variant BRCA-EU 2 225353170 225353170 single base substitution A G intron_variant BRCA-EU 2 225353170 225353170 single base substitution A G upstream_gene_variant BRCA-EU 2 225353553 225353553 single base substitution T C intron_variant BRCA-EU 2 225353553 225353553 single base substitution T C upstream_gene_variant BRCA-EU 2 225355494 225355494 single base substitution C G downstream_gene_variant BRCA-EU 2 225355494 225355494 single base substitution C G intron_variant BRCA-EU 2 225356748 225356748 single base substitution T C downstream_gene_variant BRCA-EU 2 225356748 225356748 single base substitution T C intron_variant BRCA-EU 2 225358087 225358087 single base substitution C T downstream_gene_variant BRCA-EU 2 225358087 225358087 single base substitution C T intron_variant BRCA-EU 2 225359265 225359265 single base substitution A G downstream_gene_variant BRCA-EU 2 225359265 225359265 single base substitution A G intron_variant BRCA-EU 2 225359373 225359373 single base substitution G C downstream_gene_variant BRCA-EU 2 225359373 225359373 single base substitution G C intron_variant BRCA-EU 2 225359380 225359380 single base substitution C G downstream_gene_variant BRCA-EU 2 225359380 225359380 single base substitution C G intron_variant BRCA-EU 2 225359449 225359449 single base substitution A G downstream_gene_variant BRCA-EU 2 225359449 225359449 single base substitution A G intron_variant BRCA-EU 2 225359701 225359701 single base substitution A T downstream_gene_variant BRCA-EU 2 225359701 225359701 single base substitution A T intron_variant BRCA-EU 2 225361587 225361587 deletion of <=200bp A - intron_variant BRCA-EU 2 225361587 225361587 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 225362178 225362178 single base substitution C G intron_variant BRCA-EU 2 225362178 225362178 single base substitution C G upstream_gene_variant BRCA-EU 2 225362906 225362906 single base substitution A T downstream_gene_variant BRCA-EU 2 225362906 225362906 single base substitution A T intron_variant BRCA-EU 2 225362906 225362906 single base substitution A T upstream_gene_variant BRCA-EU 2 225364145 225364145 single base substitution T C downstream_gene_variant BRCA-EU 2 225364145 225364145 single base substitution T C intron_variant BRCA-EU 2 225364145 225364145 single base substitution T C upstream_gene_variant BRCA-EU 2 225364644 225364644 single base substitution T A downstream_gene_variant BRCA-EU 2 225364644 225364644 single base substitution T A intron_variant BRCA-EU 2 225364644 225364644 single base substitution T A upstream_gene_variant BRCA-EU 2 225365273 225365273 single base substitution T C downstream_gene_variant BRCA-EU 2 225365273 225365273 single base substitution T C intron_variant BRCA-EU 2 225365273 225365273 single base substitution T C upstream_gene_variant BRCA-EU 2 225368309 225368309 single base substitution G A downstream_gene_variant BRCA-EU 2 225368309 225368309 single base substitution G A intron_variant BRCA-EU 2 225368309 225368309 single base substitution G A upstream_gene_variant BRCA-EU 2 225368310 225368310 single base substitution T C downstream_gene_variant BRCA-EU 2 225368310 225368310 single base substitution T C intron_variant BRCA-EU 2 225368310 225368310 single base substitution T C upstream_gene_variant BRCA-EU 2 225370325 225370325 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 225370325 225370325 deletion of <=200bp T - intron_variant BRCA-EU 2 225370325 225370325 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 225371904 225371904 single base substitution T G downstream_gene_variant BRCA-EU 2 225371904 225371904 single base substitution T G intron_variant BRCA-EU 2 225371904 225371904 single base substitution T G upstream_gene_variant BRCA-EU 2 225372233 225372233 single base substitution C G downstream_gene_variant BRCA-EU 2 225372233 225372233 single base substitution C G intron_variant BRCA-EU 2 225372233 225372233 single base substitution C G upstream_gene_variant BRCA-EU 2 225373443 225373443 single base substitution G C downstream_gene_variant BRCA-EU 2 225373443 225373443 single base substitution G C intron_variant BRCA-EU 2 225373443 225373443 single base substitution G C upstream_gene_variant BRCA-EU 2 225374614 225374614 single base substitution G A downstream_gene_variant BRCA-EU 2 225374614 225374614 single base substitution G A intron_variant BRCA-EU 2 225374939 225374939 single base substitution T C downstream_gene_variant BRCA-EU 2 225374939 225374939 single base substitution T C intron_variant BRCA-EU 2 225375123 225375123 single base substitution C T downstream_gene_variant BRCA-EU 2 225375123 225375123 single base substitution C T intron_variant BRCA-EU 2 225375544 225375544 single base substitution T A downstream_gene_variant BRCA-EU 2 225375544 225375544 single base substitution T A intron_variant BRCA-EU 2 225375545 225375545 single base substitution C A downstream_gene_variant BRCA-EU 2 225375545 225375545 single base substitution C A intron_variant BRCA-EU 2 225375546 225375546 single base substitution C A downstream_gene_variant BRCA-EU 2 225375546 225375546 single base substitution C A intron_variant BRCA-EU 2 225376021 225376021 single base substitution T C downstream_gene_variant BRCA-EU 2 225376021 225376021 single base substitution T C intron_variant BRCA-EU 2 225376738 225376738 single base substitution C T downstream_gene_variant BRCA-EU 2 225376738 225376738 single base substitution C T intron_variant BRCA-EU 2 225376738 225376738 single base substitution C T upstream_gene_variant BRCA-EU 2 225377667 225377667 single base substitution G C downstream_gene_variant BRCA-EU 2 225377667 225377667 single base substitution G C intron_variant BRCA-EU 2 225377667 225377667 single base substitution G C upstream_gene_variant BRCA-EU 2 225377712 225377712 single base substitution G A downstream_gene_variant BRCA-EU 2 225377712 225377712 single base substitution G A intron_variant BRCA-EU 2 225377712 225377712 single base substitution G A upstream_gene_variant BRCA-EU 2 225378272 225378272 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 225378272 225378272 deletion of <=200bp G - exon_variant BRCA-EU 2 225378272 225378272 deletion of <=200bp G - frameshift_variant P142 BRCA-EU 2 225378272 225378272 deletion of <=200bp G - frameshift_variant P184 BRCA-EU 2 225378272 225378272 deletion of <=200bp G - frameshift_variant P208 BRCA-EU 2 225378272 225378272 deletion of <=200bp G - upstream_gene_variant BRCA-EU 2 225378344 225378344 single base substitution C G downstream_gene_variant BRCA-EU 2 225378344 225378344 single base substitution C G exon_variant BRCA-EU 2 225378344 225378344 single base substitution C G missense_variant R118T 353G>C BRCA-EU 2 225378344 225378344 single base substitution C G missense_variant R160T 479G>C BRCA-EU 2 225378344 225378344 single base substitution C G missense_variant R184T 551G>C BRCA-EU 2 225378344 225378344 single base substitution C G upstream_gene_variant BRCA-EU 2 225379238 225379241 deletion of <=200bp TTTA - downstream_gene_variant BRCA-EU 2 225379238 225379241 deletion of <=200bp TTTA - intron_variant BRCA-EU 2 225379238 225379241 deletion of <=200bp TTTA - upstream_gene_variant BRCA-EU 2 225379308 225379308 single base substitution G C downstream_gene_variant BRCA-EU 2 225379308 225379308 single base substitution G C intron_variant BRCA-EU 2 225379308 225379308 single base substitution G C upstream_gene_variant BRCA-EU 2 225381171 225381171 single base substitution C G intron_variant BRCA-EU 2 225381664 225381664 single base substitution C A intron_variant BRCA-EU 2 225383794 225383794 single base substitution C G intron_variant BRCA-EU 2 225383864 225383864 single base substitution T C intron_variant BRCA-EU 2 225384808 225384808 single base substitution T G intron_variant BRCA-EU 2 225385003 225385003 single base substitution A C intron_variant BRCA-EU 2 225387760 225387760 insertion of <=200bp - A intron_variant BRCA-EU 2 225389253 225389253 single base substitution C T intron_variant BRCA-EU 2 225391103 225391103 single base substitution G C intron_variant BRCA-EU 2 225391963 225391963 single base substitution C G intron_variant BRCA-EU 2 225394775 225394775 single base substitution G A intron_variant BRCA-EU 2 225395295 225395295 single base substitution C T intron_variant BRCA-EU 2 225395915 225395915 single base substitution C T downstream_gene_variant BRCA-EU 2 225395915 225395915 single base substitution C T intron_variant BRCA-EU 2 225399470 225399470 single base substitution T C downstream_gene_variant BRCA-EU 2 225399470 225399470 single base substitution T C intron_variant BRCA-EU 2 225399470 225399470 single base substitution T C upstream_gene_variant BRCA-EU 2 225399495 225399495 single base substitution A C downstream_gene_variant BRCA-EU 2 225399495 225399495 single base substitution A C intron_variant BRCA-EU 2 225399495 225399495 single base substitution A C upstream_gene_variant BRCA-EU 2 225400349 225400349 single base substitution C G exon_variant BRCA-EU 2 225400349 225400349 single base substitution C G missense_variant D112H 334G>C BRCA-EU 2 225400349 225400349 single base substitution C G missense_variant D26H 76G>C BRCA-EU 2 225400349 225400349 single base substitution C G missense_variant D68H 202G>C BRCA-EU 2 225400349 225400349 single base substitution C G missense_variant D92H 274G>C BRCA-EU 2 225400349 225400349 single base substitution C G upstream_gene_variant BRCA-EU 2 225401045 225401048 deletion of <=200bp ACTT - intron_variant BRCA-EU 2 225401045 225401048 deletion of <=200bp ACTT - upstream_gene_variant BRCA-EU 2 225401348 225401348 single base substitution C G intron_variant BRCA-EU 2 225401348 225401348 single base substitution C G upstream_gene_variant BRCA-EU 2 225401743 225401743 single base substitution T C intron_variant BRCA-EU 2 225401743 225401743 single base substitution T C upstream_gene_variant BRCA-EU 2 225404748 225404748 single base substitution G A intron_variant BRCA-EU 2 225406214 225406214 single base substitution A G intron_variant BRCA-EU 2 225407317 225407317 single base substitution G C intron_variant BRCA-EU 2 225407598 225407598 single base substitution G A intron_variant BRCA-EU 2 225407599 225407599 single base substitution C G intron_variant BRCA-EU 2 225410273 225410273 single base substitution C G intron_variant BRCA-EU 2 225410425 225410425 single base substitution C T intron_variant BRCA-EU 2 225410704 225410705 deletion of <=200bp TT - intron_variant BRCA-EU 2 225411004 225411004 single base substitution T C intron_variant BRCA-EU 2 225412392 225412392 single base substitution T C intron_variant BRCA-EU 2 225412926 225412926 single base substitution C G intron_variant BRCA-EU 2 225415665 225415665 single base substitution C T intron_variant BRCA-EU 2 225418960 225418960 single base substitution C G intron_variant BRCA-EU 2 225419092 225419092 single base substitution G A intron_variant BRCA-EU 2 225419457 225419457 single base substitution A G intron_variant BRCA-EU 2 225419849 225419849 single base substitution G T intron_variant BRCA-EU 2 225421628 225421628 single base substitution G C intron_variant BRCA-EU 2 225424987 225424987 deletion of <=200bp T - intron_variant BRCA-EU 2 225424987 225424987 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 225425289 225425289 single base substitution C T exon_variant BRCA-EU 2 225425289 225425289 single base substitution C T intron_variant BRCA-EU 2 225425289 225425289 single base substitution C T upstream_gene_variant BRCA-EU 2 225425535 225425535 single base substitution G C intron_variant BRCA-EU 2 225425535 225425535 single base substitution G C upstream_gene_variant BRCA-EU 2 225425583 225425583 single base substitution G C intron_variant BRCA-EU 2 225425583 225425583 single base substitution G C upstream_gene_variant BRCA-EU 2 225427494 225427494 single base substitution T C 5_prime_UTR_variant BRCA-EU 2 225427494 225427494 single base substitution T C intron_variant BRCA-EU 2 225427494 225427494 single base substitution T C upstream_gene_variant BRCA-EU 2 225431227 225431227 single base substitution T C intron_variant BRCA-EU 2 225431227 225431227 single base substitution T C upstream_gene_variant BRCA-EU 2 225431866 225431866 single base substitution A C intron_variant BRCA-EU 2 225431866 225431866 single base substitution A C upstream_gene_variant BRCA-EU 2 225432768 225432768 deletion of <=200bp T - intron_variant BRCA-EU 2 225432768 225432768 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 225432815 225432815 single base substitution T G intron_variant BRCA-EU 2 225432815 225432815 single base substitution T G upstream_gene_variant BRCA-EU 2 225435161 225435161 single base substitution G A intron_variant BRCA-EU 2 225435161 225435161 single base substitution G A upstream_gene_variant BRCA-EU 2 225435621 225435621 single base substitution G C intron_variant BRCA-EU 2 225435621 225435621 single base substitution G C upstream_gene_variant BRCA-EU 2 225435991 225435991 single base substitution C A intron_variant BRCA-EU 2 225435991 225435991 single base substitution C A upstream_gene_variant BRCA-EU 2 225436857 225436857 single base substitution A C intron_variant BRCA-EU 2 225436857 225436857 single base substitution A C upstream_gene_variant BRCA-EU 2 225437452 225437453 deletion of <=200bp AG - intron_variant BRCA-EU 2 225437452 225437453 deletion of <=200bp AG - upstream_gene_variant BRCA-EU 2 225438249 225438249 single base substitution T G intron_variant BRCA-EU 2 225438249 225438249 single base substitution T G upstream_gene_variant BRCA-EU 2 225438322 225438322 single base substitution G A intron_variant BRCA-EU 2 225438322 225438322 single base substitution G A upstream_gene_variant BRCA-EU 2 225438797 225438797 single base substitution A G intron_variant BRCA-EU 2 225438797 225438797 single base substitution A G upstream_gene_variant BRCA-EU 2 225439670 225439670 deletion of <=200bp A - intron_variant BRCA-EU 2 225441962 225441962 single base substitution T G intron_variant BRCA-EU 2 225442943 225442943 single base substitution G A intron_variant BRCA-EU 2 225443575 225443575 deletion of <=200bp A - intron_variant BRCA-EU 2 225443617 225443617 single base substitution C T intron_variant BRCA-EU 2 225443665 225443665 single base substitution T C intron_variant BRCA-EU 2 225443830 225443830 single base substitution G C intron_variant BRCA-EU 2 225448346 225448346 single base substitution G C intron_variant BRCA-EU 2 225451423 225451423 single base substitution G A upstream_gene_variant BRCA-EU 2 225452811 225452811 single base substitution G A upstream_gene_variant BRCA-EU 2 225453862 225453862 single base substitution G T upstream_gene_variant BRCA-EU 2 225454302 225454302 single base substitution G T upstream_gene_variant BRCA-FR 2 225340236 225340236 single base substitution C T downstream_gene_variant BRCA-FR 2 225340236 225340236 single base substitution C T intron_variant BRCA-FR 2 225351129 225351129 single base substitution G C intron_variant BRCA-FR 2 225351129 225351129 single base substitution G C upstream_gene_variant BRCA-FR 2 225353060 225353060 single base substitution G C intron_variant BRCA-FR 2 225353060 225353060 single base substitution G C upstream_gene_variant BRCA-FR 2 225373443 225373443 single base substitution G C downstream_gene_variant BRCA-FR 2 225373443 225373443 single base substitution G C intron_variant BRCA-FR 2 225373443 225373443 single base substitution G C upstream_gene_variant BRCA-FR 2 225374614 225374614 single base substitution G A downstream_gene_variant BRCA-FR 2 225374614 225374614 single base substitution G A intron_variant BRCA-FR 2 225377109 225377109 single base substitution G T downstream_gene_variant BRCA-FR 2 225377109 225377109 single base substitution G T intron_variant BRCA-FR 2 225377109 225377109 single base substitution G T upstream_gene_variant BRCA-FR 2 225379005 225379005 single base substitution T A downstream_gene_variant BRCA-FR 2 225379005 225379005 single base substitution T A intron_variant BRCA-FR 2 225379005 225379005 single base substitution T A upstream_gene_variant BRCA-FR 2 225379308 225379308 single base substitution G C downstream_gene_variant BRCA-FR 2 225379308 225379308 single base substitution G C intron_variant BRCA-FR 2 225379308 225379308 single base substitution G C upstream_gene_variant BRCA-FR 2 225384808 225384808 single base substitution T G intron_variant BRCA-FR 2 225394775 225394775 single base substitution G A intron_variant BRCA-FR 2 225395915 225395915 single base substitution C T downstream_gene_variant BRCA-FR 2 225395915 225395915 single base substitution C T intron_variant BRCA-FR 2 225399916 225399916 single base substitution C G downstream_gene_variant BRCA-FR 2 225399916 225399916 single base substitution C G intron_variant BRCA-FR 2 225399916 225399916 single base substitution C G upstream_gene_variant BRCA-FR 2 225404748 225404748 single base substitution G A intron_variant BRCA-FR 2 225435991 225435991 single base substitution C A intron_variant BRCA-FR 2 225435991 225435991 single base substitution C A upstream_gene_variant BRCA-FR 2 225443830 225443830 single base substitution G C intron_variant BRCA-FR 2 225451423 225451423 single base substitution G A upstream_gene_variant BRCA-UK 2 225342331 225342331 single base substitution T C downstream_gene_variant BRCA-UK 2 225342331 225342331 single base substitution T C intron_variant BRCA-UK 2 225352945 225352945 single base substitution G C intron_variant BRCA-UK 2 225352945 225352945 single base substitution G C upstream_gene_variant BRCA-UK 2 225412926 225412926 single base substitution C G intron_variant BRCA-US 2 225346622 225346622 single base substitution G C exon_variant BRCA-US 2 225346622 225346622 single base substitution G C intron_variant BRCA-US 2 225346622 225346622 single base substitution G C synonymous_variant V606V 1818C>G BRCA-US 2 225346622 225346622 single base substitution G C synonymous_variant V648V 1944C>G BRCA-US 2 225346622 225346622 single base substitution G C synonymous_variant V672V 2016C>G BRCA-US 2 225346622 225346622 single base substitution G C upstream_gene_variant BRCA-US 2 225346783 225346783 single base substitution C G exon_variant BRCA-US 2 225346783 225346783 single base substitution C G intron_variant BRCA-US 2 225346783 225346783 single base substitution C G missense_variant E553Q 1657G>C BRCA-US 2 225346783 225346783 single base substitution C G missense_variant E595Q 1783G>C BRCA-US 2 225346783 225346783 single base substitution C G missense_variant E619Q 1855G>C BRCA-US 2 225346783 225346783 single base substitution C G upstream_gene_variant BRCA-US 2 225362533 225362533 single base substitution G A exon_variant BRCA-US 2 225362533 225362533 single base substitution G A synonymous_variant L1L 3C>T BRCA-US 2 225362533 225362533 single base substitution G A synonymous_variant L482L 1446C>T BRCA-US 2 225362533 225362533 single base substitution G A synonymous_variant L524L 1572C>T BRCA-US 2 225362533 225362533 single base substitution G A synonymous_variant L548L 1644C>T BRCA-US 2 225362533 225362533 single base substitution G A upstream_gene_variant BRCA-US 2 225368387 225368387 insertion of <=200bp - T downstream_gene_variant BRCA-US 2 225368387 225368387 insertion of <=200bp - T exon_variant BRCA-US 2 225368387 225368387 insertion of <=200bp - T frameshift_variant N387N? BRCA-US 2 225368387 225368387 insertion of <=200bp - T frameshift_variant N429N? BRCA-US 2 225368387 225368387 insertion of <=200bp - T frameshift_variant N453N? BRCA-US 2 225368387 225368387 insertion of <=200bp - T upstream_gene_variant BRCA-US 2 225368461 225368461 single base substitution C T downstream_gene_variant BRCA-US 2 225368461 225368461 single base substitution C T exon_variant BRCA-US 2 225368461 225368461 single base substitution C T missense_variant E363K 1087G>A BRCA-US 2 225368461 225368461 single base substitution C T missense_variant E405K 1213G>A BRCA-US 2 225368461 225368461 single base substitution C T missense_variant E429K 1285G>A BRCA-US 2 225368461 225368461 single base substitution C T upstream_gene_variant BRCA-US 2 225376276 225376276 single base substitution T C downstream_gene_variant BRCA-US 2 225376276 225376276 single base substitution T C exon_variant BRCA-US 2 225376276 225376276 single base substitution T C synonymous_variant A160A 480A>G BRCA-US 2 225376276 225376276 single base substitution T C synonymous_variant A202A 606A>G BRCA-US 2 225376276 225376276 single base substitution T C synonymous_variant A226A 678A>G BRCA-US 2 225376276 225376276 single base substitution T C upstream_gene_variant BRCA-US 2 225378295 225378295 single base substitution G A downstream_gene_variant BRCA-US 2 225378295 225378295 single base substitution G A exon_variant BRCA-US 2 225378295 225378295 single base substitution G A synonymous_variant V134V 402C>T BRCA-US 2 225378295 225378295 single base substitution G A synonymous_variant V176V 528C>T BRCA-US 2 225378295 225378295 single base substitution G A synonymous_variant V200V 600C>T BRCA-US 2 225378295 225378295 single base substitution G A upstream_gene_variant BRCA-US 2 225379404 225379404 single base substitution C T exon_variant BRCA-US 2 225379404 225379404 single base substitution C T missense_variant G131E 392G>A BRCA-US 2 225379404 225379404 single base substitution C T missense_variant G155E 464G>A BRCA-US 2 225379404 225379404 single base substitution C T missense_variant G175E 524G>A BRCA-US 2 225379404 225379404 single base substitution C T missense_variant G89E 266G>A BRCA-US 2 225379404 225379404 single base substitution C T upstream_gene_variant BTCA-JP 2 225346714 225346714 single base substitution G A exon_variant BTCA-JP 2 225346714 225346714 single base substitution G A intron_variant BTCA-JP 2 225346714 225346714 single base substitution G A missense_variant R576W 1726C>T BTCA-JP 2 225346714 225346714 single base substitution G A missense_variant R618W 1852C>T BTCA-JP 2 225346714 225346714 single base substitution G A missense_variant R642W 1924C>T BTCA-JP 2 225346714 225346714 single base substitution G A upstream_gene_variant BTCA-JP 2 225360697 225360697 single base substitution A T intron_variant BTCA-JP 2 225360697 225360697 single base substitution A T upstream_gene_variant BTCA-JP 2 225368388 225368388 insertion of <=200bp - T downstream_gene_variant BTCA-JP 2 225368388 225368388 insertion of <=200bp - T exon_variant BTCA-JP 2 225368388 225368388 insertion of <=200bp - T frameshift_variant N387K? BTCA-JP 2 225368388 225368388 insertion of <=200bp - T frameshift_variant N429K? BTCA-JP 2 225368388 225368388 insertion of <=200bp - T frameshift_variant N453K? BTCA-JP 2 225368388 225368388 insertion of <=200bp - T upstream_gene_variant BTCA-JP 2 225427946 225427946 single base substitution T C 5_prime_UTR_variant BTCA-JP 2 225427946 225427946 single base substitution T C intron_variant BTCA-JP 2 225427946 225427946 single base substitution T C missense_variant I31V 91A>G BTCA-JP 2 225427946 225427946 single base substitution T C upstream_gene_variant CESC-US 2 225339094 225339094 insertion of <=200bp - CA downstream_gene_variant CESC-US 2 225339094 225339094 insertion of <=200bp - CA splice_acceptor_variant CESC-US 2 225339095 225339095 single base substitution T A downstream_gene_variant CESC-US 2 225339095 225339095 single base substitution T A splice_acceptor_variant CESC-US 2 225365091 225365091 single base substitution C T downstream_gene_variant CESC-US 2 225365091 225365091 single base substitution C T exon_variant CESC-US 2 225365091 225365091 single base substitution C T synonymous_variant E467E 1401G>A CESC-US 2 225365091 225365091 single base substitution C T synonymous_variant E509E 1527G>A CESC-US 2 225365091 225365091 single base substitution C T synonymous_variant E533E 1599G>A CESC-US 2 225365091 225365091 single base substitution C T upstream_gene_variant CLLE-ES 2 225339443 225339443 single base substitution A T downstream_gene_variant CLLE-ES 2 225339443 225339443 single base substitution A T intron_variant CLLE-ES 2 225370214 225370214 single base substitution G A downstream_gene_variant CLLE-ES 2 225370214 225370214 single base substitution G A intron_variant CLLE-ES 2 225370214 225370214 single base substitution G A upstream_gene_variant CLLE-ES 2 225384100 225384100 single base substitution A C intron_variant CLLE-ES 2 225403112 225403112 single base substitution C T intron_variant CLLE-ES 2 225414003 225414003 single base substitution C T intron_variant CLLE-ES 2 225427680 225427680 insertion of <=200bp - T 5_prime_UTR_variant CLLE-ES 2 225427680 225427680 insertion of <=200bp - T intron_variant CLLE-ES 2 225427680 225427680 insertion of <=200bp - T upstream_gene_variant CLLE-ES 2 225439665 225439665 single base substitution G A intron_variant CLLE-ES 2 225452863 225452863 single base substitution C T upstream_gene_variant COAD-US 2 225339057 225339057 single base substitution G A 3_prime_UTR_variant COAD-US 2 225339057 225339057 single base substitution G A downstream_gene_variant COAD-US 2 225339057 225339057 single base substitution G A exon_variant COAD-US 2 225339057 225339057 single base substitution G A missense_variant P672S 2014C>T COAD-US 2 225339057 225339057 single base substitution G A missense_variant P714S 2140C>T COAD-US 2 225339057 225339057 single base substitution G A missense_variant P738S 2212C>T COAD-US 2 225339057 225339057 single base substitution G A missense_variant P80S 238C>T COAD-US 2 225342928 225342928 single base substitution G C 3_prime_UTR_variant COAD-US 2 225342928 225342928 single base substitution G C downstream_gene_variant COAD-US 2 225342928 225342928 single base substitution G C exon_variant COAD-US 2 225342928 225342928 single base substitution G C intron_variant COAD-US 2 225342928 225342928 single base substitution G C missense_variant L656V 1966C>G COAD-US 2 225342928 225342928 single base substitution G C missense_variant L698V 2092C>G COAD-US 2 225342928 225342928 single base substitution G C missense_variant L722V 2164C>G COAD-US 2 225343024 225343024 single base substitution C A exon_variant COAD-US 2 225343024 225343024 single base substitution C A intron_variant COAD-US 2 225343024 225343024 single base substitution C A stop_gained E624* 1870G>T COAD-US 2 225343024 225343024 single base substitution C A stop_gained E666* 1996G>T COAD-US 2 225343024 225343024 single base substitution C A stop_gained E690* 2068G>T COAD-US 2 225346611 225346611 single base substitution G A intron_variant COAD-US 2 225346611 225346611 single base substitution G A missense_variant T610I 1829C>T COAD-US 2 225346611 225346611 single base substitution G A missense_variant T652I 1955C>T COAD-US 2 225346611 225346611 single base substitution G A missense_variant T676I 2027C>T COAD-US 2 225346611 225346611 single base substitution G A splice_region_variant COAD-US 2 225346611 225346611 single base substitution G A upstream_gene_variant COAD-US 2 225346735 225346735 single base substitution C T exon_variant COAD-US 2 225346735 225346735 single base substitution C T intron_variant COAD-US 2 225346735 225346735 single base substitution C T missense_variant A569T 1705G>A COAD-US 2 225346735 225346735 single base substitution C T missense_variant A611T 1831G>A COAD-US 2 225346735 225346735 single base substitution C T missense_variant A635T 1903G>A COAD-US 2 225346735 225346735 single base substitution C T upstream_gene_variant COAD-US 2 225371690 225371690 single base substitution C T downstream_gene_variant COAD-US 2 225371690 225371690 single base substitution C T exon_variant COAD-US 2 225371690 225371690 single base substitution C T missense_variant R239H 716G>A COAD-US 2 225371690 225371690 single base substitution C T missense_variant R281H 842G>A COAD-US 2 225371690 225371690 single base substitution C T missense_variant R305H 914G>A COAD-US 2 225371690 225371690 single base substitution C T upstream_gene_variant COAD-US 2 225379410 225379410 single base substitution C T exon_variant COAD-US 2 225379410 225379410 single base substitution C T missense_variant R129H 386G>A COAD-US 2 225379410 225379410 single base substitution C T missense_variant R153H 458G>A COAD-US 2 225379410 225379410 single base substitution C T missense_variant R173H 518G>A COAD-US 2 225379410 225379410 single base substitution C T missense_variant R87H 260G>A COAD-US 2 225379410 225379410 single base substitution C T upstream_gene_variant COAD-US 2 225422490 225422490 single base substitution A G exon_variant COAD-US 2 225422490 225422490 single base substitution A G intron_variant COAD-US 2 225422490 225422490 single base substitution A G synonymous_variant S26S 78T>C COAD-US 2 225422490 225422490 single base substitution A G synonymous_variant S50S 150T>C COAD-US 2 225422490 225422490 single base substitution A G synonymous_variant S70S 210T>C COCA-CN 2 225338956 225338956 single base substitution C T 3_prime_UTR_variant COCA-CN 2 225338956 225338956 single base substitution C T downstream_gene_variant COCA-CN 2 225338956 225338956 single base substitution C T exon_variant COCA-CN 2 225362455 225362455 single base substitution A G intron_variant COCA-CN 2 225362455 225362455 single base substitution A G upstream_gene_variant COCA-CN 2 225367550 225367550 single base substitution C T downstream_gene_variant COCA-CN 2 225367550 225367550 single base substitution C T intron_variant COCA-CN 2 225367550 225367550 single base substitution C T upstream_gene_variant COCA-CN 2 225370702 225370702 single base substitution C A exon_variant COCA-CN 2 225370702 225370702 single base substitution C A missense_variant D327Y 979G>T COCA-CN 2 225370702 225370702 single base substitution C A missense_variant D369Y 1105G>T COCA-CN 2 225370702 225370702 single base substitution C A missense_variant D393Y 1177G>T COCA-CN 2 225370702 225370702 single base substitution C A upstream_gene_variant COCA-CN 2 225370823 225370823 single base substitution G A exon_variant COCA-CN 2 225370823 225370823 single base substitution G A synonymous_variant F286F 858C>T COCA-CN 2 225370823 225370823 single base substitution G A synonymous_variant F328F 984C>T COCA-CN 2 225370823 225370823 single base substitution G A synonymous_variant F352F 1056C>T COCA-CN 2 225370823 225370823 single base substitution G A upstream_gene_variant COCA-CN 2 225370901 225370901 single base substitution T G intron_variant COCA-CN 2 225370901 225370901 single base substitution T G upstream_gene_variant COCA-CN 2 225371535 225371535 single base substitution C A downstream_gene_variant COCA-CN 2 225371535 225371535 single base substitution C A intron_variant COCA-CN 2 225371535 225371535 single base substitution C A upstream_gene_variant COCA-CN 2 225371594 225371594 single base substitution T G downstream_gene_variant COCA-CN 2 225371594 225371594 single base substitution T G exon_variant COCA-CN 2 225371594 225371594 single base substitution T G missense_variant N271T 812A>C COCA-CN 2 225371594 225371594 single base substitution T G missense_variant N313T 938A>C COCA-CN 2 225371594 225371594 single base substitution T G missense_variant N337T 1010A>C COCA-CN 2 225371594 225371594 single base substitution T G upstream_gene_variant COCA-CN 2 225378310 225378310 single base substitution G A downstream_gene_variant COCA-CN 2 225378310 225378310 single base substitution G A exon_variant COCA-CN 2 225378310 225378310 single base substitution G A synonymous_variant L129L 387C>T COCA-CN 2 225378310 225378310 single base substitution G A synonymous_variant L171L 513C>T COCA-CN 2 225378310 225378310 single base substitution G A synonymous_variant L195L 585C>T COCA-CN 2 225378310 225378310 single base substitution G A upstream_gene_variant COCA-CN 2 225434445 225434445 single base substitution A G 5_prime_UTR_variant COCA-CN 2 225434445 225434445 single base substitution A G intron_variant COCA-CN 2 225434466 225434466 single base substitution T C 5_prime_UTR_variant COCA-CN 2 225434466 225434466 single base substitution T C intron_variant COCA-CN 2 225434558 225434558 single base substitution A G intron_variant COCA-CN 2 225434558 225434558 single base substitution A G upstream_gene_variant EOPC-DE 2 225360120 225360120 single base substitution C A exon_variant EOPC-DE 2 225360120 225360120 single base substitution C A intron_variant EOPC-DE 2 225371062 225371062 single base substitution T A intron_variant EOPC-DE 2 225371062 225371062 single base substitution T A upstream_gene_variant EOPC-DE 2 225374953 225374953 single base substitution G T downstream_gene_variant EOPC-DE 2 225374953 225374953 single base substitution G T intron_variant EOPC-DE 2 225375072 225375072 single base substitution C A downstream_gene_variant EOPC-DE 2 225375072 225375072 single base substitution C A intron_variant EOPC-DE 2 225400088 225400088 single base substitution C T downstream_gene_variant EOPC-DE 2 225400088 225400088 single base substitution C T intron_variant EOPC-DE 2 225400088 225400088 single base substitution C T upstream_gene_variant ESAD-UK 2 225331343 225331343 single base substitution G A downstream_gene_variant ESAD-UK 2 225332153 225332153 single base substitution A C downstream_gene_variant ESAD-UK 2 225336425 225336425 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 225336425 225336425 single base substitution T C downstream_gene_variant ESAD-UK 2 225337637 225337637 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 225337637 225337637 single base substitution C T downstream_gene_variant ESAD-UK 2 225338350 225338350 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 225338350 225338350 single base substitution G A downstream_gene_variant ESAD-UK 2 225338602 225338602 single base substitution A T 3_prime_UTR_variant ESAD-UK 2 225338602 225338602 single base substitution A T downstream_gene_variant ESAD-UK 2 225338951 225338951 single base substitution C A 3_prime_UTR_variant ESAD-UK 2 225338951 225338951 single base substitution C A downstream_gene_variant ESAD-UK 2 225338951 225338951 single base substitution C A exon_variant ESAD-UK 2 225341517 225341517 single base substitution A T downstream_gene_variant ESAD-UK 2 225341517 225341517 single base substitution A T intron_variant ESAD-UK 2 225344923 225344923 single base substitution T A intron_variant ESAD-UK 2 225344923 225344923 single base substitution T A upstream_gene_variant ESAD-UK 2 225347014 225347014 single base substitution C A intron_variant ESAD-UK 2 225347014 225347014 single base substitution C A upstream_gene_variant ESAD-UK 2 225349657 225349657 insertion of <=200bp - T intron_variant ESAD-UK 2 225349657 225349657 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 225349732 225349732 single base substitution T A intron_variant ESAD-UK 2 225349732 225349732 single base substitution T A upstream_gene_variant ESAD-UK 2 225349836 225349836 single base substitution C T intron_variant ESAD-UK 2 225349836 225349836 single base substitution C T upstream_gene_variant ESAD-UK 2 225350462 225350462 single base substitution G T intron_variant ESAD-UK 2 225350462 225350462 single base substitution G T upstream_gene_variant ESAD-UK 2 225352210 225352210 insertion of <=200bp - A intron_variant ESAD-UK 2 225352210 225352210 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 225355038 225355038 single base substitution A G downstream_gene_variant ESAD-UK 2 225355038 225355038 single base substitution A G intron_variant ESAD-UK 2 225355038 225355038 single base substitution A G upstream_gene_variant ESAD-UK 2 225355048 225355048 single base substitution T C downstream_gene_variant ESAD-UK 2 225355048 225355048 single base substitution T C intron_variant ESAD-UK 2 225355048 225355048 single base substitution T C upstream_gene_variant ESAD-UK 2 225356093 225356093 single base substitution T A downstream_gene_variant ESAD-UK 2 225356093 225356093 single base substitution T A intron_variant ESAD-UK 2 225357568 225357568 single base substitution C G downstream_gene_variant ESAD-UK 2 225357568 225357568 single base substitution C G intron_variant ESAD-UK 2 225358408 225358408 single base substitution T C downstream_gene_variant ESAD-UK 2 225358408 225358408 single base substitution T C intron_variant ESAD-UK 2 225359039 225359039 single base substitution T C downstream_gene_variant ESAD-UK 2 225359039 225359039 single base substitution T C intron_variant ESAD-UK 2 225359050 225359050 single base substitution T C downstream_gene_variant ESAD-UK 2 225359050 225359050 single base substitution T C intron_variant ESAD-UK 2 225362225 225362225 single base substitution G A intron_variant ESAD-UK 2 225362225 225362225 single base substitution G A upstream_gene_variant ESAD-UK 2 225364616 225364616 insertion of <=200bp - T downstream_gene_variant ESAD-UK 2 225364616 225364616 insertion of <=200bp - T intron_variant ESAD-UK 2 225364616 225364616 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 225364952 225364952 single base substitution G A downstream_gene_variant ESAD-UK 2 225364952 225364952 single base substitution G A intron_variant ESAD-UK 2 225364952 225364952 single base substitution G A upstream_gene_variant ESAD-UK 2 225367189 225367189 single base substitution G A downstream_gene_variant ESAD-UK 2 225367189 225367189 single base substitution G A intron_variant ESAD-UK 2 225367189 225367189 single base substitution G A upstream_gene_variant ESAD-UK 2 225368684 225368684 single base substitution A C downstream_gene_variant ESAD-UK 2 225368684 225368684 single base substitution A C exon_variant ESAD-UK 2 225368684 225368684 single base substitution A C intron_variant ESAD-UK 2 225368684 225368684 single base substitution A C upstream_gene_variant ESAD-UK 2 225370310 225370310 insertion of <=200bp - T downstream_gene_variant ESAD-UK 2 225370310 225370310 insertion of <=200bp - T intron_variant ESAD-UK 2 225370310 225370310 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 225371143 225371143 single base substitution T A intron_variant ESAD-UK 2 225371143 225371143 single base substitution T A upstream_gene_variant ESAD-UK 2 225371165 225371165 single base substitution A G downstream_gene_variant ESAD-UK 2 225371165 225371165 single base substitution A G intron_variant ESAD-UK 2 225371165 225371165 single base substitution A G upstream_gene_variant ESAD-UK 2 225371361 225371361 single base substitution G A downstream_gene_variant ESAD-UK 2 225371361 225371361 single base substitution G A intron_variant ESAD-UK 2 225371361 225371361 single base substitution G A upstream_gene_variant ESAD-UK 2 225371788 225371788 single base substitution G A downstream_gene_variant ESAD-UK 2 225371788 225371788 single base substitution G A intron_variant ESAD-UK 2 225371788 225371788 single base substitution G A upstream_gene_variant ESAD-UK 2 225372863 225372863 single base substitution A G downstream_gene_variant ESAD-UK 2 225372863 225372863 single base substitution A G intron_variant ESAD-UK 2 225372863 225372863 single base substitution A G upstream_gene_variant ESAD-UK 2 225372935 225372935 single base substitution T G downstream_gene_variant ESAD-UK 2 225372935 225372935 single base substitution T G intron_variant ESAD-UK 2 225372935 225372935 single base substitution T G upstream_gene_variant ESAD-UK 2 225372951 225372951 single base substitution C T downstream_gene_variant ESAD-UK 2 225372951 225372951 single base substitution C T intron_variant ESAD-UK 2 225372951 225372951 single base substitution C T upstream_gene_variant ESAD-UK 2 225374500 225374500 single base substitution T C downstream_gene_variant ESAD-UK 2 225374500 225374500 single base substitution T C intron_variant ESAD-UK 2 225376108 225376108 single base substitution A G downstream_gene_variant ESAD-UK 2 225376108 225376108 single base substitution A G exon_variant ESAD-UK 2 225376108 225376108 single base substitution A G synonymous_variant S216S 648T>C ESAD-UK 2 225376108 225376108 single base substitution A G synonymous_variant S258S 774T>C ESAD-UK 2 225376108 225376108 single base substitution A G synonymous_variant S282S 846T>C ESAD-UK 2 225376756 225376756 single base substitution G C downstream_gene_variant ESAD-UK 2 225376756 225376756 single base substitution G C intron_variant ESAD-UK 2 225376756 225376756 single base substitution G C upstream_gene_variant ESAD-UK 2 225377151 225377151 single base substitution C G downstream_gene_variant ESAD-UK 2 225377151 225377151 single base substitution C G intron_variant ESAD-UK 2 225377151 225377151 single base substitution C G upstream_gene_variant ESAD-UK 2 225377171 225377171 single base substitution T G downstream_gene_variant ESAD-UK 2 225377171 225377171 single base substitution T G intron_variant ESAD-UK 2 225377171 225377171 single base substitution T G upstream_gene_variant ESAD-UK 2 225378775 225378775 single base substitution A G downstream_gene_variant ESAD-UK 2 225378775 225378775 single base substitution A G intron_variant ESAD-UK 2 225378775 225378775 single base substitution A G upstream_gene_variant ESAD-UK 2 225379449 225379449 single base substitution T C exon_variant ESAD-UK 2 225379449 225379449 single base substitution T C missense_variant Y116C 347A>G ESAD-UK 2 225379449 225379449 single base substitution T C missense_variant Y140C 419A>G ESAD-UK 2 225379449 225379449 single base substitution T C missense_variant Y160C 479A>G ESAD-UK 2 225379449 225379449 single base substitution T C missense_variant Y74C 221A>G ESAD-UK 2 225379449 225379449 single base substitution T C upstream_gene_variant ESAD-UK 2 225383831 225383831 single base substitution C T intron_variant ESAD-UK 2 225386945 225386945 deletion of <=200bp A - intron_variant ESAD-UK 2 225388804 225388804 insertion of <=200bp - A intron_variant ESAD-UK 2 225389049 225389049 single base substitution G C intron_variant ESAD-UK 2 225390080 225390080 single base substitution G A intron_variant ESAD-UK 2 225398267 225398267 single base substitution T C downstream_gene_variant ESAD-UK 2 225398267 225398267 single base substitution T C intron_variant ESAD-UK 2 225398267 225398267 single base substitution T C upstream_gene_variant ESAD-UK 2 225398300 225398300 single base substitution C T downstream_gene_variant ESAD-UK 2 225398300 225398300 single base substitution C T intron_variant ESAD-UK 2 225398300 225398300 single base substitution C T upstream_gene_variant ESAD-UK 2 225399746 225399746 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 225399746 225399746 deletion of <=200bp T - intron_variant ESAD-UK 2 225399746 225399746 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 225399748 225399754 deletion of <=200bp AATAAAT - downstream_gene_variant ESAD-UK 2 225399748 225399754 deletion of <=200bp AATAAAT - intron_variant ESAD-UK 2 225399748 225399754 deletion of <=200bp AATAAAT - upstream_gene_variant ESAD-UK 2 225402802 225402802 single base substitution C T intron_variant ESAD-UK 2 225402802 225402802 single base substitution C T upstream_gene_variant ESAD-UK 2 225402870 225402871 deletion of <=200bp AC - intron_variant ESAD-UK 2 225405256 225405256 single base substitution T C intron_variant ESAD-UK 2 225406069 225406069 single base substitution T C intron_variant ESAD-UK 2 225407295 225407295 single base substitution C T intron_variant ESAD-UK 2 225408006 225408006 single base substitution C T intron_variant ESAD-UK 2 225409044 225409044 single base substitution A G intron_variant ESAD-UK 2 225409120 225409120 single base substitution C A intron_variant ESAD-UK 2 225409201 225409201 single base substitution A C intron_variant ESAD-UK 2 225409290 225409290 single base substitution T A intron_variant ESAD-UK 2 225412772 225412772 single base substitution G T intron_variant ESAD-UK 2 225413513 225413513 single base substitution G A intron_variant ESAD-UK 2 225416619 225416619 single base substitution C T intron_variant ESAD-UK 2 225416992 225416992 single base substitution G C intron_variant ESAD-UK 2 225418958 225418958 single base substitution T G intron_variant ESAD-UK 2 225421573 225421573 insertion of <=200bp - A intron_variant ESAD-UK 2 225421924 225421924 deletion of <=200bp A - intron_variant ESAD-UK 2 225422080 225422080 single base substitution G A intron_variant ESAD-UK 2 225422307 225422307 single base substitution G A intron_variant ESAD-UK 2 225422732 225422732 deletion of <=200bp G - intron_variant ESAD-UK 2 225422732 225422732 deletion of <=200bp G - upstream_gene_variant ESAD-UK 2 225422737 225422737 deletion of <=200bp A - intron_variant ESAD-UK 2 225422737 225422737 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 225422826 225422826 single base substitution G A intron_variant ESAD-UK 2 225422826 225422826 single base substitution G A upstream_gene_variant ESAD-UK 2 225423063 225423063 single base substitution C T intron_variant ESAD-UK 2 225423063 225423063 single base substitution C T upstream_gene_variant ESAD-UK 2 225423368 225423368 single base substitution G A intron_variant ESAD-UK 2 225423368 225423368 single base substitution G A upstream_gene_variant ESAD-UK 2 225425657 225425657 single base substitution A C intron_variant ESAD-UK 2 225425657 225425657 single base substitution A C upstream_gene_variant ESAD-UK 2 225426182 225426182 single base substitution G A intron_variant ESAD-UK 2 225426182 225426182 single base substitution G A upstream_gene_variant ESAD-UK 2 225427626 225427626 single base substitution C T 5_prime_UTR_variant ESAD-UK 2 225427626 225427626 single base substitution C T intron_variant ESAD-UK 2 225427626 225427626 single base substitution C T upstream_gene_variant ESAD-UK 2 225428905 225428905 single base substitution G A intron_variant ESAD-UK 2 225428905 225428905 single base substitution G A upstream_gene_variant ESAD-UK 2 225429948 225429948 single base substitution G C intron_variant ESAD-UK 2 225429948 225429948 single base substitution G C upstream_gene_variant ESAD-UK 2 225433460 225433460 single base substitution A G intron_variant ESAD-UK 2 225436025 225436025 single base substitution C G intron_variant ESAD-UK 2 225436025 225436025 single base substitution C G upstream_gene_variant ESAD-UK 2 225436421 225436421 single base substitution G A intron_variant ESAD-UK 2 225436421 225436421 single base substitution G A upstream_gene_variant ESAD-UK 2 225443436 225443436 insertion of <=200bp - A intron_variant ESAD-UK 2 225444207 225444207 single base substitution A G intron_variant ESAD-UK 2 225446544 225446544 single base substitution G C intron_variant ESAD-UK 2 225449647 225449647 single base substitution G A intron_variant ESAD-UK 2 225451226 225451226 single base substitution C G upstream_gene_variant ESAD-UK 2 225452559 225452559 single base substitution T C upstream_gene_variant ESAD-UK 2 225453160 225453160 single base substitution C T upstream_gene_variant ESAD-UK 2 225454084 225454084 single base substitution T C upstream_gene_variant ESAD-UK 2 225454361 225454361 single base substitution G C upstream_gene_variant ESAD-UK 2 225454579 225454579 single base substitution C T upstream_gene_variant ESAD-UK 2 225454587 225454587 deletion of <=200bp T - upstream_gene_variant ESCA-CN 2 225368470 225368470 single base substitution C G downstream_gene_variant ESCA-CN 2 225368470 225368470 single base substitution C G exon_variant ESCA-CN 2 225368470 225368470 single base substitution C G missense_variant D360H 1078G>C ESCA-CN 2 225368470 225368470 single base substitution C G missense_variant D402H 1204G>C ESCA-CN 2 225368470 225368470 single base substitution C G missense_variant D426H 1276G>C ESCA-CN 2 225368470 225368470 single base substitution C G upstream_gene_variant KIRC-US 2 225342980 225342980 single base substitution T C 3_prime_UTR_variant KIRC-US 2 225342980 225342980 single base substitution T C downstream_gene_variant KIRC-US 2 225342980 225342980 single base substitution T C exon_variant KIRC-US 2 225342980 225342980 single base substitution T C intron_variant KIRC-US 2 225342980 225342980 single base substitution T C synonymous_variant E638E 1914A>G KIRC-US 2 225342980 225342980 single base substitution T C synonymous_variant E680E 2040A>G KIRC-US 2 225342980 225342980 single base substitution T C synonymous_variant E704E 2112A>G KIRC-US 2 225360600 225360600 single base substitution G T exon_variant KIRC-US 2 225360600 225360600 single base substitution G T missense_variant F50L 150C>A KIRC-US 2 225360600 225360600 single base substitution G T missense_variant F531L 1593C>A KIRC-US 2 225360600 225360600 single base substitution G T missense_variant F573L 1719C>A KIRC-US 2 225360600 225360600 single base substitution G T missense_variant F597L 1791C>A KIRC-US 2 225368421 225368421 single base substitution G C downstream_gene_variant KIRC-US 2 225368421 225368421 single base substitution G C exon_variant KIRC-US 2 225368421 225368421 single base substitution G C missense_variant T376R 1127C>G KIRC-US 2 225368421 225368421 single base substitution G C missense_variant T418R 1253C>G KIRC-US 2 225368421 225368421 single base substitution G C missense_variant T442R 1325C>G KIRC-US 2 225368421 225368421 single base substitution G C upstream_gene_variant KIRC-US 2 225370726 225370727 deletion of <=200bp GA - exon_variant KIRC-US 2 225370726 225370727 deletion of <=200bp GA - frameshift_variant SP318 KIRC-US 2 225370726 225370727 deletion of <=200bp GA - frameshift_variant SP360 KIRC-US 2 225370726 225370727 deletion of <=200bp GA - frameshift_variant SP384 KIRC-US 2 225370726 225370727 deletion of <=200bp GA - upstream_gene_variant KIRC-US 2 225379414 225379414 single base substitution C T exon_variant KIRC-US 2 225379414 225379414 single base substitution C T missense_variant V128I 382G>A KIRC-US 2 225379414 225379414 single base substitution C T missense_variant V152I 454G>A KIRC-US 2 225379414 225379414 single base substitution C T missense_variant V172I 514G>A KIRC-US 2 225379414 225379414 single base substitution C T missense_variant V86I 256G>A KIRC-US 2 225379414 225379414 single base substitution C T upstream_gene_variant KIRC-US 2 225422498 225422498 single base substitution T A exon_variant KIRC-US 2 225422498 225422498 single base substitution T A intron_variant KIRC-US 2 225422498 225422498 single base substitution T A missense_variant N24Y 70A>T KIRC-US 2 225422498 225422498 single base substitution T A missense_variant N48Y 142A>T KIRC-US 2 225422498 225422498 single base substitution T A missense_variant N68Y 202A>T KIRP-US 2 225362540 225362540 single base substitution C G exon_variant KIRP-US 2 225362540 225362540 single base substitution C G missense_variant R480P 1439G>C KIRP-US 2 225362540 225362540 single base substitution C G missense_variant R522P 1565G>C KIRP-US 2 225362540 225362540 single base substitution C G missense_variant R546P 1637G>C KIRP-US 2 225362540 225362540 single base substitution C G upstream_gene_variant KIRP-US 2 225422410 225422410 single base substitution A G exon_variant KIRP-US 2 225422410 225422410 single base substitution A G intron_variant KIRP-US 2 225422410 225422410 single base substitution A G missense_variant L53P 158T>C KIRP-US 2 225422410 225422410 single base substitution A G missense_variant L77P 230T>C KIRP-US 2 225422410 225422410 single base substitution A G missense_variant L97P 290T>C KIRP-US 2 225422463 225422463 single base substitution T G exon_variant KIRP-US 2 225422463 225422463 single base substitution T G intron_variant KIRP-US 2 225422463 225422463 single base substitution T G missense_variant R35S 105A>C KIRP-US 2 225422463 225422463 single base substitution T G missense_variant R59S 177A>C KIRP-US 2 225422463 225422463 single base substitution T G missense_variant R79S 237A>C KIRP-US 2 225422516 225422516 single base substitution G A exon_variant KIRP-US 2 225422516 225422516 single base substitution G A intron_variant KIRP-US 2 225422516 225422516 single base substitution G A stop_gained Q18* 52C>T KIRP-US 2 225422516 225422516 single base substitution G A stop_gained Q42* 124C>T KIRP-US 2 225422516 225422516 single base substitution G A stop_gained Q62* 184C>T KIRP-US 2 225449722 225449722 single base substitution G T stop_gained S2* 5C>A LAML-KR 2 225364937 225364937 single base substitution T C downstream_gene_variant LAML-KR 2 225364937 225364937 single base substitution T C intron_variant LAML-KR 2 225364937 225364937 single base substitution T C upstream_gene_variant LAML-KR 2 225368321 225368321 single base substitution A G downstream_gene_variant LAML-KR 2 225368321 225368321 single base substitution A G intron_variant LAML-KR 2 225368321 225368321 single base substitution A G upstream_gene_variant LAML-KR 2 225369872 225369872 single base substitution G T downstream_gene_variant LAML-KR 2 225369872 225369872 single base substitution G T intron_variant LAML-KR 2 225369872 225369872 single base substitution G T upstream_gene_variant LAML-KR 2 225407232 225407232 single base substitution A G intron_variant LAML-KR 2 225407236 225407236 single base substitution G A intron_variant LICA-FR 2 225339002 225339002 single base substitution C A 3_prime_UTR_variant LICA-FR 2 225339002 225339002 single base substitution C A downstream_gene_variant LICA-FR 2 225339002 225339002 single base substitution C A exon_variant LICA-FR 2 225339002 225339002 single base substitution C A missense_variant R690L 2069G>T LICA-FR 2 225339002 225339002 single base substitution C A missense_variant R732L 2195G>T LICA-FR 2 225339002 225339002 single base substitution C A missense_variant R756L 2267G>T LICA-FR 2 225339002 225339002 single base substitution C A missense_variant R98L 293G>T LICA-FR 2 225350101 225350101 single base substitution C T exon_variant LICA-FR 2 225350101 225350101 single base substitution C T intron_variant LICA-FR 2 225384495 225384495 single base substitution G A intron_variant LICA-FR 2 225434674 225434674 deletion of <=200bp A - intron_variant LICA-FR 2 225434674 225434674 deletion of <=200bp A - upstream_gene_variant LICA-FR 2 225439670 225439670 deletion of <=200bp A - intron_variant LICA-FR 2 225444476 225444476 single base substitution C T intron_variant LIHC-US 2 225367700 225367700 single base substitution T C downstream_gene_variant LIHC-US 2 225367700 225367700 single base substitution T C synonymous_variant Q423Q 1269A>G LIHC-US 2 225367700 225367700 single base substitution T C synonymous_variant Q465Q 1395A>G LIHC-US 2 225367700 225367700 single base substitution T C synonymous_variant Q489Q 1467A>G LIHC-US 2 225367700 225367700 single base substitution T C upstream_gene_variant LIHC-US 2 225376243 225376243 single base substitution T C downstream_gene_variant LIHC-US 2 225376243 225376243 single base substitution T C exon_variant LIHC-US 2 225376243 225376243 single base substitution T C synonymous_variant V171V 513A>G LIHC-US 2 225376243 225376243 single base substitution T C synonymous_variant V213V 639A>G LIHC-US 2 225376243 225376243 single base substitution T C synonymous_variant V237V 711A>G LIHC-US 2 225376243 225376243 single base substitution T C upstream_gene_variant LINC-JP 2 225336253 225336254 deletion of <=200bp AG - 3_prime_UTR_variant LINC-JP 2 225336253 225336254 deletion of <=200bp AG - downstream_gene_variant LINC-JP 2 225341428 225341428 single base substitution T C downstream_gene_variant LINC-JP 2 225341428 225341428 single base substitution T C intron_variant LINC-JP 2 225343186 225343186 single base substitution T A exon_variant LINC-JP 2 225343186 225343186 single base substitution T A intron_variant LINC-JP 2 225344073 225344073 deletion of <=200bp A - exon_variant LINC-JP 2 225344073 225344073 deletion of <=200bp A - intron_variant LINC-JP 2 225346776 225346776 single base substitution T C exon_variant LINC-JP 2 225346776 225346776 single base substitution T C intron_variant LINC-JP 2 225346776 225346776 single base substitution T C missense_variant D555G 1664A>G LINC-JP 2 225346776 225346776 single base substitution T C missense_variant D597G 1790A>G LINC-JP 2 225346776 225346776 single base substitution T C missense_variant D621G 1862A>G LINC-JP 2 225346776 225346776 single base substitution T C upstream_gene_variant LINC-JP 2 225348390 225348390 single base substitution G C intron_variant LINC-JP 2 225348390 225348390 single base substitution G C upstream_gene_variant LINC-JP 2 225362546 225362546 single base substitution C T exon_variant LINC-JP 2 225362546 225362546 single base substitution C T missense_variant S478N 1433G>A LINC-JP 2 225362546 225362546 single base substitution C T missense_variant S520N 1559G>A LINC-JP 2 225362546 225362546 single base substitution C T missense_variant S544N 1631G>A LINC-JP 2 225362546 225362546 single base substitution C T upstream_gene_variant LINC-JP 2 225364083 225364083 single base substitution T C downstream_gene_variant LINC-JP 2 225364083 225364083 single base substitution T C intron_variant LINC-JP 2 225364083 225364083 single base substitution T C upstream_gene_variant LINC-JP 2 225365344 225365344 single base substitution C T downstream_gene_variant LINC-JP 2 225365344 225365344 single base substitution C T intron_variant LINC-JP 2 225365344 225365344 single base substitution C T upstream_gene_variant LINC-JP 2 225378053 225378053 single base substitution T G downstream_gene_variant LINC-JP 2 225378053 225378053 single base substitution T G intron_variant LINC-JP 2 225378053 225378053 single base substitution T G upstream_gene_variant LINC-JP 2 225378420 225378420 single base substitution A G downstream_gene_variant LINC-JP 2 225378420 225378420 single base substitution A G intron_variant LINC-JP 2 225378420 225378420 single base substitution A G upstream_gene_variant LINC-JP 2 225382071 225382071 single base substitution G T intron_variant LINC-JP 2 225386841 225386841 single base substitution T C intron_variant LINC-JP 2 225399133 225399133 single base substitution G A downstream_gene_variant LINC-JP 2 225399133 225399133 single base substitution G A intron_variant LINC-JP 2 225399133 225399133 single base substitution G A upstream_gene_variant LINC-JP 2 225403087 225403087 single base substitution A C intron_variant LINC-JP 2 225418838 225418838 single base substitution C A intron_variant LINC-JP 2 225422953 225422953 single base substitution G A intron_variant LINC-JP 2 225422953 225422953 single base substitution G A upstream_gene_variant LINC-JP 2 225436934 225436934 single base substitution C T intron_variant LINC-JP 2 225436934 225436934 single base substitution C T upstream_gene_variant LINC-JP 2 225454619 225454619 single base substitution A G upstream_gene_variant LIRI-JP 2 225330306 225330306 single base substitution C T downstream_gene_variant LIRI-JP 2 225332099 225332099 single base substitution T C downstream_gene_variant LIRI-JP 2 225332938 225332938 single base substitution T C downstream_gene_variant LIRI-JP 2 225333058 225333058 single base substitution A T downstream_gene_variant LIRI-JP 2 225334116 225334116 single base substitution G A downstream_gene_variant LIRI-JP 2 225334633 225334636 deletion of <=200bp TACC - downstream_gene_variant LIRI-JP 2 225335319 225335319 insertion of <=200bp - C 3_prime_UTR_variant LIRI-JP 2 225335319 225335319 insertion of <=200bp - C downstream_gene_variant LIRI-JP 2 225335647 225335647 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 225335647 225335647 single base substitution T C downstream_gene_variant LIRI-JP 2 225340357 225340357 single base substitution C A downstream_gene_variant LIRI-JP 2 225340357 225340357 single base substitution C A intron_variant LIRI-JP 2 225341885 225341885 single base substitution T G downstream_gene_variant LIRI-JP 2 225341885 225341885 single base substitution T G intron_variant LIRI-JP 2 225343547 225343547 deletion of <=200bp A - exon_variant LIRI-JP 2 225343547 225343547 deletion of <=200bp A - intron_variant LIRI-JP 2 225344789 225344789 single base substitution C T exon_variant LIRI-JP 2 225344789 225344789 single base substitution C T intron_variant LIRI-JP 2 225345623 225345623 single base substitution C T intron_variant LIRI-JP 2 225345623 225345623 single base substitution C T upstream_gene_variant LIRI-JP 2 225346013 225346013 single base substitution G C intron_variant LIRI-JP 2 225346013 225346013 single base substitution G C upstream_gene_variant LIRI-JP 2 225346256 225346256 single base substitution T C intron_variant LIRI-JP 2 225346256 225346256 single base substitution T C upstream_gene_variant LIRI-JP 2 225347639 225347639 single base substitution G A intron_variant LIRI-JP 2 225347639 225347639 single base substitution G A upstream_gene_variant LIRI-JP 2 225347672 225347672 single base substitution T G intron_variant LIRI-JP 2 225347672 225347672 single base substitution T G upstream_gene_variant LIRI-JP 2 225348452 225348452 single base substitution A C intron_variant LIRI-JP 2 225348452 225348452 single base substitution A C upstream_gene_variant LIRI-JP 2 225349539 225349539 single base substitution C T intron_variant LIRI-JP 2 225349539 225349539 single base substitution C T upstream_gene_variant LIRI-JP 2 225349886 225349886 single base substitution T G intron_variant LIRI-JP 2 225350456 225350456 single base substitution A T intron_variant LIRI-JP 2 225350456 225350456 single base substitution A T upstream_gene_variant LIRI-JP 2 225350717 225350717 single base substitution C A intron_variant LIRI-JP 2 225350717 225350717 single base substitution C A upstream_gene_variant LIRI-JP 2 225351339 225351339 single base substitution A C intron_variant LIRI-JP 2 225351339 225351339 single base substitution A C upstream_gene_variant LIRI-JP 2 225352468 225352468 single base substitution C T intron_variant LIRI-JP 2 225352468 225352468 single base substitution C T upstream_gene_variant LIRI-JP 2 225353379 225353379 single base substitution C T intron_variant LIRI-JP 2 225353379 225353379 single base substitution C T upstream_gene_variant LIRI-JP 2 225354283 225354283 single base substitution A C intron_variant LIRI-JP 2 225354283 225354283 single base substitution A C upstream_gene_variant LIRI-JP 2 225354411 225354411 single base substitution T C intron_variant LIRI-JP 2 225354411 225354411 single base substitution T C upstream_gene_variant LIRI-JP 2 225356528 225356528 single base substitution T C downstream_gene_variant LIRI-JP 2 225356528 225356528 single base substitution T C intron_variant LIRI-JP 2 225358557 225358557 single base substitution T C downstream_gene_variant LIRI-JP 2 225358557 225358557 single base substitution T C intron_variant LIRI-JP 2 225359100 225359100 single base substitution G C downstream_gene_variant LIRI-JP 2 225359100 225359100 single base substitution G C intron_variant LIRI-JP 2 225359260 225359260 single base substitution G C downstream_gene_variant LIRI-JP 2 225359260 225359260 single base substitution G C intron_variant LIRI-JP 2 225364871 225364871 single base substitution T C downstream_gene_variant LIRI-JP 2 225364871 225364871 single base substitution T C intron_variant LIRI-JP 2 225364871 225364871 single base substitution T C upstream_gene_variant LIRI-JP 2 225368140 225368140 single base substitution C G downstream_gene_variant LIRI-JP 2 225368140 225368140 single base substitution C G intron_variant LIRI-JP 2 225368140 225368140 single base substitution C G upstream_gene_variant LIRI-JP 2 225368483 225368483 single base substitution A T downstream_gene_variant LIRI-JP 2 225368483 225368483 single base substitution A T exon_variant LIRI-JP 2 225368483 225368483 single base substitution A T missense_variant F355L 1065T>A LIRI-JP 2 225368483 225368483 single base substitution A T missense_variant F397L 1191T>A LIRI-JP 2 225368483 225368483 single base substitution A T missense_variant F421L 1263T>A LIRI-JP 2 225368483 225368483 single base substitution A T upstream_gene_variant LIRI-JP 2 225371980 225371980 single base substitution T C downstream_gene_variant LIRI-JP 2 225371980 225371980 single base substitution T C intron_variant LIRI-JP 2 225371980 225371980 single base substitution T C upstream_gene_variant LIRI-JP 2 225372244 225372244 single base substitution T C downstream_gene_variant LIRI-JP 2 225372244 225372244 single base substitution T C intron_variant LIRI-JP 2 225372244 225372244 single base substitution T C upstream_gene_variant LIRI-JP 2 225372941 225372941 single base substitution T C downstream_gene_variant LIRI-JP 2 225372941 225372941 single base substitution T C intron_variant LIRI-JP 2 225372941 225372941 single base substitution T C upstream_gene_variant LIRI-JP 2 225373122 225373122 single base substitution C T downstream_gene_variant LIRI-JP 2 225373122 225373122 single base substitution C T intron_variant LIRI-JP 2 225373122 225373122 single base substitution C T upstream_gene_variant LIRI-JP 2 225375253 225375253 single base substitution T C downstream_gene_variant LIRI-JP 2 225375253 225375253 single base substitution T C intron_variant LIRI-JP 2 225375785 225375785 single base substitution A C downstream_gene_variant LIRI-JP 2 225375785 225375785 single base substitution A C intron_variant LIRI-JP 2 225376041 225376041 single base substitution T C downstream_gene_variant LIRI-JP 2 225376041 225376041 single base substitution T C intron_variant LIRI-JP 2 225377525 225377525 single base substitution T C downstream_gene_variant LIRI-JP 2 225377525 225377525 single base substitution T C intron_variant LIRI-JP 2 225377525 225377525 single base substitution T C upstream_gene_variant LIRI-JP 2 225377772 225377772 single base substitution T C downstream_gene_variant LIRI-JP 2 225377772 225377772 single base substitution T C intron_variant LIRI-JP 2 225377772 225377772 single base substitution T C upstream_gene_variant LIRI-JP 2 225379976 225379976 single base substitution T C intron_variant LIRI-JP 2 225379976 225379976 single base substitution T C upstream_gene_variant LIRI-JP 2 225380369 225380369 single base substitution A G intron_variant LIRI-JP 2 225380369 225380369 single base substitution A G upstream_gene_variant LIRI-JP 2 225382787 225382787 single base substitution T C intron_variant LIRI-JP 2 225383596 225383596 single base substitution T C intron_variant LIRI-JP 2 225383755 225383755 single base substitution G T intron_variant LIRI-JP 2 225384232 225384232 single base substitution G A intron_variant LIRI-JP 2 225387068 225387101 deletion of <=200bp TTAAAGAACTTTCTCAATACTTTCCATGATACCA - intron_variant LIRI-JP 2 225388635 225388635 single base substitution T C intron_variant LIRI-JP 2 225388864 225388864 single base substitution G C intron_variant LIRI-JP 2 225391503 225391503 single base substitution C A intron_variant LIRI-JP 2 225393440 225393440 single base substitution T A intron_variant LIRI-JP 2 225393604 225393604 single base substitution T C intron_variant LIRI-JP 2 225394327 225394327 single base substitution T C intron_variant LIRI-JP 2 225396493 225396493 single base substitution G T downstream_gene_variant LIRI-JP 2 225396493 225396493 single base substitution G T intron_variant LIRI-JP 2 225398322 225398322 single base substitution T C downstream_gene_variant LIRI-JP 2 225398322 225398322 single base substitution T C intron_variant LIRI-JP 2 225398322 225398322 single base substitution T C upstream_gene_variant LIRI-JP 2 225398544 225398544 single base substitution C T downstream_gene_variant LIRI-JP 2 225398544 225398544 single base substitution C T intron_variant LIRI-JP 2 225398544 225398544 single base substitution C T upstream_gene_variant LIRI-JP 2 225400409 225400409 single base substitution A T intron_variant LIRI-JP 2 225400409 225400409 single base substitution A T upstream_gene_variant LIRI-JP 2 225400544 225400544 single base substitution T C intron_variant LIRI-JP 2 225400544 225400544 single base substitution T C upstream_gene_variant LIRI-JP 2 225400622 225400622 single base substitution C T intron_variant LIRI-JP 2 225400622 225400622 single base substitution C T upstream_gene_variant LIRI-JP 2 225401509 225401509 single base substitution T G intron_variant LIRI-JP 2 225401509 225401509 single base substitution T G upstream_gene_variant LIRI-JP 2 225401634 225401634 single base substitution C T intron_variant LIRI-JP 2 225401634 225401634 single base substitution C T upstream_gene_variant LIRI-JP 2 225402213 225402213 single base substitution T C intron_variant LIRI-JP 2 225402213 225402213 single base substitution T C upstream_gene_variant LIRI-JP 2 225402840 225402840 single base substitution G A intron_variant LIRI-JP 2 225405654 225405654 single base substitution T C intron_variant LIRI-JP 2 225406837 225406837 single base substitution G T intron_variant LIRI-JP 2 225407100 225407100 single base substitution T C intron_variant LIRI-JP 2 225408072 225408072 single base substitution G T intron_variant LIRI-JP 2 225410582 225410582 single base substitution T A intron_variant LIRI-JP 2 225410921 225410921 single base substitution A C intron_variant LIRI-JP 2 225413533 225413533 single base substitution G A intron_variant LIRI-JP 2 225414997 225414997 single base substitution G C intron_variant LIRI-JP 2 225415257 225415257 single base substitution G T intron_variant LIRI-JP 2 225417722 225417722 single base substitution T C intron_variant LIRI-JP 2 225418220 225418220 single base substitution A G intron_variant LIRI-JP 2 225420703 225420703 single base substitution T C intron_variant LIRI-JP 2 225420711 225420711 single base substitution A C intron_variant LIRI-JP 2 225421542 225421542 single base substitution A G intron_variant LIRI-JP 2 225421740 225421740 single base substitution T C intron_variant LIRI-JP 2 225427139 225427139 single base substitution G T intron_variant LIRI-JP 2 225427139 225427139 single base substitution G T upstream_gene_variant LIRI-JP 2 225428199 225428199 single base substitution T G intron_variant LIRI-JP 2 225428199 225428199 single base substitution T G upstream_gene_variant LIRI-JP 2 225429774 225429774 single base substitution T C intron_variant LIRI-JP 2 225429774 225429774 single base substitution T C upstream_gene_variant LIRI-JP 2 225431168 225431168 single base substitution C A intron_variant LIRI-JP 2 225431168 225431168 single base substitution C A upstream_gene_variant LIRI-JP 2 225431857 225431857 single base substitution C A intron_variant LIRI-JP 2 225431857 225431857 single base substitution C A upstream_gene_variant LIRI-JP 2 225432330 225432330 single base substitution G A intron_variant LIRI-JP 2 225432330 225432330 single base substitution G A upstream_gene_variant LIRI-JP 2 225433152 225433152 single base substitution A T intron_variant LIRI-JP 2 225433860 225433860 single base substitution A G intron_variant LIRI-JP 2 225435531 225435531 single base substitution C A intron_variant LIRI-JP 2 225435531 225435531 single base substitution C A upstream_gene_variant LIRI-JP 2 225435614 225435614 single base substitution A G intron_variant LIRI-JP 2 225435614 225435614 single base substitution A G upstream_gene_variant LIRI-JP 2 225435910 225435910 single base substitution A C intron_variant LIRI-JP 2 225435910 225435910 single base substitution A C upstream_gene_variant LIRI-JP 2 225436819 225436819 single base substitution T G intron_variant LIRI-JP 2 225436819 225436819 single base substitution T G upstream_gene_variant LIRI-JP 2 225437192 225437192 single base substitution T C intron_variant LIRI-JP 2 225437192 225437192 single base substitution T C upstream_gene_variant LIRI-JP 2 225437271 225437271 single base substitution T A intron_variant LIRI-JP 2 225437271 225437271 single base substitution T A upstream_gene_variant LIRI-JP 2 225438909 225438909 single base substitution T C intron_variant LIRI-JP 2 225438909 225438909 single base substitution T C upstream_gene_variant LIRI-JP 2 225440181 225440181 single base substitution C T intron_variant LIRI-JP 2 225440987 225440987 single base substitution A G intron_variant LIRI-JP 2 225442513 225442513 single base substitution T C intron_variant LIRI-JP 2 225442531 225442531 single base substitution C T intron_variant LIRI-JP 2 225442837 225442837 single base substitution A G intron_variant LIRI-JP 2 225444703 225444703 single base substitution G A intron_variant LIRI-JP 2 225448263 225448263 single base substitution T C intron_variant LIRI-JP 2 225451771 225451771 single base substitution A G upstream_gene_variant LUSC-KR 2 225335419 225335419 single base substitution A T 3_prime_UTR_variant LUSC-KR 2 225335419 225335419 single base substitution A T downstream_gene_variant LUSC-KR 2 225339819 225339819 single base substitution C T downstream_gene_variant LUSC-KR 2 225339819 225339819 single base substitution C T intron_variant LUSC-KR 2 225348889 225348889 single base substitution A T intron_variant LUSC-KR 2 225348889 225348889 single base substitution A T upstream_gene_variant LUSC-KR 2 225354373 225354373 single base substitution T A intron_variant LUSC-KR 2 225354373 225354373 single base substitution T A upstream_gene_variant LUSC-KR 2 225358527 225358527 single base substitution T A downstream_gene_variant LUSC-KR 2 225358527 225358527 single base substitution T A intron_variant LUSC-KR 2 225361599 225361599 single base substitution C G intron_variant LUSC-KR 2 225361599 225361599 single base substitution C G upstream_gene_variant LUSC-KR 2 225362480 225362480 single base substitution G A exon_variant LUSC-KR 2 225362480 225362480 single base substitution G A missense_variant P19L 56C>T LUSC-KR 2 225362480 225362480 single base substitution G A missense_variant P500L 1499C>T LUSC-KR 2 225362480 225362480 single base substitution G A missense_variant P542L 1625C>T LUSC-KR 2 225362480 225362480 single base substitution G A missense_variant P566L 1697C>T LUSC-KR 2 225362480 225362480 single base substitution G A upstream_gene_variant LUSC-KR 2 225365574 225365574 single base substitution C T downstream_gene_variant LUSC-KR 2 225365574 225365574 single base substitution C T intron_variant LUSC-KR 2 225365574 225365574 single base substitution C T upstream_gene_variant LUSC-KR 2 225368260 225368260 single base substitution G A downstream_gene_variant LUSC-KR 2 225368260 225368260 single base substitution G A intron_variant LUSC-KR 2 225368260 225368260 single base substitution G A upstream_gene_variant LUSC-KR 2 225372458 225372458 single base substitution C G downstream_gene_variant LUSC-KR 2 225372458 225372458 single base substitution C G intron_variant LUSC-KR 2 225372458 225372458 single base substitution C G upstream_gene_variant LUSC-KR 2 225376032 225376032 single base substitution G C downstream_gene_variant LUSC-KR 2 225376032 225376032 single base substitution G C intron_variant LUSC-KR 2 225378763 225378763 single base substitution C T downstream_gene_variant LUSC-KR 2 225378763 225378763 single base substitution C T intron_variant LUSC-KR 2 225378763 225378763 single base substitution C T upstream_gene_variant LUSC-KR 2 225384279 225384279 single base substitution G C intron_variant LUSC-KR 2 225384519 225384519 single base substitution T C intron_variant LUSC-KR 2 225387097 225387097 single base substitution T A intron_variant LUSC-KR 2 225387170 225387170 single base substitution C G intron_variant LUSC-KR 2 225392950 225392950 single base substitution C T intron_variant LUSC-KR 2 225395822 225395822 single base substitution G T downstream_gene_variant LUSC-KR 2 225395822 225395822 single base substitution G T intron_variant LUSC-KR 2 225400244 225400244 single base substitution C T downstream_gene_variant LUSC-KR 2 225400244 225400244 single base substitution C T splice_donor_variant LUSC-KR 2 225400244 225400244 single base substitution C T upstream_gene_variant LUSC-KR 2 225407075 225407075 single base substitution C G intron_variant LUSC-KR 2 225412296 225412296 single base substitution G C intron_variant LUSC-KR 2 225415171 225415171 single base substitution G C intron_variant LUSC-KR 2 225419541 225419541 single base substitution C T intron_variant LUSC-KR 2 225421495 225421495 single base substitution T G intron_variant LUSC-KR 2 225423155 225423155 single base substitution G C intron_variant LUSC-KR 2 225423155 225423155 single base substitution G C upstream_gene_variant LUSC-KR 2 225432614 225432614 single base substitution C T intron_variant LUSC-KR 2 225432614 225432614 single base substitution C T upstream_gene_variant LUSC-US 2 225339017 225339017 single base substitution C G 3_prime_UTR_variant LUSC-US 2 225339017 225339017 single base substitution C G downstream_gene_variant LUSC-US 2 225339017 225339017 single base substitution C G exon_variant LUSC-US 2 225339017 225339017 single base substitution C G missense_variant R685T 2054G>C LUSC-US 2 225339017 225339017 single base substitution C G missense_variant R727T 2180G>C LUSC-US 2 225339017 225339017 single base substitution C G missense_variant R751T 2252G>C LUSC-US 2 225339017 225339017 single base substitution C G missense_variant R93T 278G>C LUSC-US 2 225339077 225339077 single base substitution T A 3_prime_UTR_variant LUSC-US 2 225339077 225339077 single base substitution T A downstream_gene_variant LUSC-US 2 225339077 225339077 single base substitution T A exon_variant LUSC-US 2 225339077 225339077 single base substitution T A missense_variant K665M 1994A>T LUSC-US 2 225339077 225339077 single base substitution T A missense_variant K707M 2120A>T LUSC-US 2 225339077 225339077 single base substitution T A missense_variant K731M 2192A>T LUSC-US 2 225339077 225339077 single base substitution T A missense_variant K73M 218A>T LUSC-US 2 225346608 225346608 single base substitution C T intron_variant LUSC-US 2 225346608 225346608 single base substitution C T splice_donor_variant LUSC-US 2 225346608 225346608 single base substitution C T upstream_gene_variant LUSC-US 2 225346609 225346609 single base substitution C A intron_variant LUSC-US 2 225346609 225346609 single base substitution C A missense_variant V611F 1831G>T LUSC-US 2 225346609 225346609 single base substitution C A missense_variant V653F 1957G>T LUSC-US 2 225346609 225346609 single base substitution C A missense_variant V677F 2029G>T LUSC-US 2 225346609 225346609 single base substitution C A splice_region_variant LUSC-US 2 225346609 225346609 single base substitution C A upstream_gene_variant LUSC-US 2 225367790 225367790 single base substitution C T downstream_gene_variant LUSC-US 2 225367790 225367790 single base substitution C T splice_acceptor_variant LUSC-US 2 225367790 225367790 single base substitution C T upstream_gene_variant LUSC-US 2 225371641 225371641 single base substitution C G downstream_gene_variant LUSC-US 2 225371641 225371641 single base substitution C G exon_variant LUSC-US 2 225371641 225371641 single base substitution C G missense_variant L255F 765G>C LUSC-US 2 225371641 225371641 single base substitution C G missense_variant L297F 891G>C LUSC-US 2 225371641 225371641 single base substitution C G missense_variant L321F 963G>C LUSC-US 2 225371641 225371641 single base substitution C G upstream_gene_variant LUSC-US 2 225376190 225376190 single base substitution G C downstream_gene_variant LUSC-US 2 225376190 225376190 single base substitution G C exon_variant LUSC-US 2 225376190 225376190 single base substitution G C stop_gained S189* 566C>G LUSC-US 2 225376190 225376190 single base substitution G C stop_gained S231* 692C>G LUSC-US 2 225376190 225376190 single base substitution G C stop_gained S255* 764C>G LUSC-US 2 225376190 225376190 single base substitution G C upstream_gene_variant LUSC-US 2 225376227 225376227 single base substitution C T downstream_gene_variant LUSC-US 2 225376227 225376227 single base substitution C T exon_variant LUSC-US 2 225376227 225376227 single base substitution C T missense_variant E177K 529G>A LUSC-US 2 225376227 225376227 single base substitution C T missense_variant E219K 655G>A LUSC-US 2 225376227 225376227 single base substitution C T missense_variant E243K 727G>A LUSC-US 2 225376227 225376227 single base substitution C T upstream_gene_variant LUSC-US 2 225376242 225376242 single base substitution C A downstream_gene_variant LUSC-US 2 225376242 225376242 single base substitution C A exon_variant LUSC-US 2 225376242 225376242 single base substitution C A stop_gained E172* 514G>T LUSC-US 2 225376242 225376242 single base substitution C A stop_gained E214* 640G>T LUSC-US 2 225376242 225376242 single base substitution C A stop_gained E238* 712G>T LUSC-US 2 225376242 225376242 single base substitution C A upstream_gene_variant LUSC-US 2 225378357 225378357 single base substitution T C downstream_gene_variant LUSC-US 2 225378357 225378357 single base substitution T C splice_acceptor_variant LUSC-US 2 225378357 225378357 single base substitution T C upstream_gene_variant LUSC-US 2 225422481 225422481 single base substitution A C exon_variant LUSC-US 2 225422481 225422481 single base substitution A C intron_variant LUSC-US 2 225422481 225422481 single base substitution A C missense_variant S29R 87T>G LUSC-US 2 225422481 225422481 single base substitution A C missense_variant S53R 159T>G LUSC-US 2 225422481 225422481 single base substitution A C missense_variant S73R 219T>G LUSC-US 2 225422495 225422495 single base substitution T C exon_variant LUSC-US 2 225422495 225422495 single base substitution T C intron_variant LUSC-US 2 225422495 225422495 single base substitution T C missense_variant N25D 73A>G LUSC-US 2 225422495 225422495 single base substitution T C missense_variant N49D 145A>G LUSC-US 2 225422495 225422495 single base substitution T C missense_variant N69D 205A>G LUSC-US 2 225449700 225449700 single base substitution G A synonymous_variant G9G 27C>T MALY-DE 2 225333731 225333731 single base substitution T A downstream_gene_variant MALY-DE 2 225335324 225335324 single base substitution C G 3_prime_UTR_variant MALY-DE 2 225335324 225335324 single base substitution C G downstream_gene_variant MALY-DE 2 225337184 225337184 single base substitution C T 3_prime_UTR_variant MALY-DE 2 225337184 225337184 single base substitution C T downstream_gene_variant MALY-DE 2 225347264 225347264 single base substitution C A intron_variant MALY-DE 2 225347264 225347264 single base substitution C A upstream_gene_variant MALY-DE 2 225347607 225347607 single base substitution A T intron_variant MALY-DE 2 225347607 225347607 single base substitution A T upstream_gene_variant MALY-DE 2 225349374 225349374 single base substitution A C intron_variant MALY-DE 2 225349374 225349374 single base substitution A C upstream_gene_variant MALY-DE 2 225353204 225353204 single base substitution C G intron_variant MALY-DE 2 225353204 225353204 single base substitution C G upstream_gene_variant MALY-DE 2 225359566 225359566 single base substitution G A downstream_gene_variant MALY-DE 2 225359566 225359566 single base substitution G A intron_variant MALY-DE 2 225362654 225362655 deletion of <=200bp TG - intron_variant MALY-DE 2 225362654 225362655 deletion of <=200bp TG - upstream_gene_variant MALY-DE 2 225374021 225374021 single base substitution C T downstream_gene_variant MALY-DE 2 225374021 225374021 single base substitution C T intron_variant MALY-DE 2 225374021 225374021 single base substitution C T upstream_gene_variant MALY-DE 2 225374475 225374475 single base substitution G A downstream_gene_variant MALY-DE 2 225374475 225374475 single base substitution G A intron_variant MALY-DE 2 225379109 225379109 single base substitution T G downstream_gene_variant MALY-DE 2 225379109 225379109 single base substitution T G intron_variant MALY-DE 2 225379109 225379109 single base substitution T G upstream_gene_variant MALY-DE 2 225383159 225383159 single base substitution A G intron_variant MALY-DE 2 225385071 225385071 single base substitution A T intron_variant MALY-DE 2 225385463 225385463 single base substitution A G intron_variant MALY-DE 2 225385564 225385564 single base substitution T G intron_variant MALY-DE 2 225385761 225385761 single base substitution A T intron_variant MALY-DE 2 225385763 225385763 single base substitution A C intron_variant MALY-DE 2 225386498 225386498 single base substitution T G intron_variant MALY-DE 2 225386671 225386671 single base substitution A G intron_variant MALY-DE 2 225386683 225386683 single base substitution A G intron_variant MALY-DE 2 225386717 225386717 single base substitution T C intron_variant MALY-DE 2 225386754 225386754 single base substitution T G intron_variant MALY-DE 2 225388554 225388554 single base substitution A T intron_variant MALY-DE 2 225394584 225394584 single base substitution T G intron_variant MALY-DE 2 225396389 225396389 single base substitution A T downstream_gene_variant MALY-DE 2 225396389 225396389 single base substitution A T intron_variant MALY-DE 2 225396790 225396790 single base substitution A G downstream_gene_variant MALY-DE 2 225396790 225396790 single base substitution A G intron_variant MALY-DE 2 225403841 225403841 single base substitution T C intron_variant MALY-DE 2 225403976 225403976 single base substitution T A intron_variant MALY-DE 2 225404016 225404016 single base substitution T A intron_variant MALY-DE 2 225405089 225405089 single base substitution T C intron_variant MALY-DE 2 225405163 225405163 single base substitution A C intron_variant MALY-DE 2 225405375 225405375 single base substitution T A intron_variant MALY-DE 2 225405425 225405425 single base substitution A G intron_variant MALY-DE 2 225405480 225405480 single base substitution T A intron_variant MALY-DE 2 225405507 225405507 single base substitution T C intron_variant MALY-DE 2 225408511 225408511 single base substitution G C intron_variant MALY-DE 2 225414070 225414070 single base substitution T G intron_variant MALY-DE 2 225423577 225423577 insertion of <=200bp - GTGAAACCCC intron_variant MALY-DE 2 225423577 225423577 insertion of <=200bp - GTGAAACCCC upstream_gene_variant MALY-DE 2 225435515 225435515 single base substitution G A intron_variant MALY-DE 2 225435515 225435515 single base substitution G A upstream_gene_variant MALY-DE 2 225439805 225439805 single base substitution A G intron_variant MALY-DE 2 225452222 225452222 single base substitution A G upstream_gene_variant MELA-AU 2 225329927 225329927 single base substitution T C downstream_gene_variant MELA-AU 2 225330042 225330042 single base substitution A G downstream_gene_variant MELA-AU 2 225330168 225330168 single base substitution C T downstream_gene_variant MELA-AU 2 225330490 225330490 single base substitution A C downstream_gene_variant MELA-AU 2 225330858 225330858 single base substitution G A downstream_gene_variant MELA-AU 2 225331055 225331055 single base substitution T G downstream_gene_variant MELA-AU 2 225331205 225331205 single base substitution C T downstream_gene_variant MELA-AU 2 225331249 225331249 single base substitution G A downstream_gene_variant MELA-AU 2 225331350 225331350 single base substitution A G downstream_gene_variant MELA-AU 2 225331476 225331477 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 225331521 225331521 single base substitution G A downstream_gene_variant MELA-AU 2 225331704 225331704 single base substitution G A downstream_gene_variant MELA-AU 2 225331992 225331992 single base substitution A G downstream_gene_variant MELA-AU 2 225333738 225333738 single base substitution G A downstream_gene_variant MELA-AU 2 225334030 225334030 single base substitution G A downstream_gene_variant MELA-AU 2 225334461 225334461 single base substitution G A downstream_gene_variant MELA-AU 2 225334532 225334532 single base substitution C T downstream_gene_variant MELA-AU 2 225334966 225334966 single base substitution G T 3_prime_UTR_variant MELA-AU 2 225334966 225334966 single base substitution G T downstream_gene_variant MELA-AU 2 225335166 225335166 single base substitution G A 3_prime_UTR_variant MELA-AU 2 225335166 225335166 single base substitution G A downstream_gene_variant MELA-AU 2 225335276 225335276 single base substitution G A 3_prime_UTR_variant MELA-AU 2 225335276 225335276 single base substitution G A downstream_gene_variant MELA-AU 2 225335357 225335357 single base substitution C T 3_prime_UTR_variant MELA-AU 2 225335357 225335357 single base substitution C T downstream_gene_variant MELA-AU 2 225336094 225336094 single base substitution A G 3_prime_UTR_variant MELA-AU 2 225336094 225336094 single base substitution A G downstream_gene_variant MELA-AU 2 225337124 225337124 single base substitution G A 3_prime_UTR_variant MELA-AU 2 225337124 225337124 single base substitution G A downstream_gene_variant MELA-AU 2 225337125 225337125 single base substitution G A 3_prime_UTR_variant MELA-AU 2 225337125 225337125 single base substitution G A downstream_gene_variant MELA-AU 2 225337278 225337278 single base substitution G A 3_prime_UTR_variant MELA-AU 2 225337278 225337278 single base substitution G A downstream_gene_variant MELA-AU 2 225337437 225337437 single base substitution G A 3_prime_UTR_variant MELA-AU 2 225337437 225337437 single base substitution G A downstream_gene_variant MELA-AU 2 225338290 225338290 single base substitution A C 3_prime_UTR_variant MELA-AU 2 225338290 225338290 single base substitution A C downstream_gene_variant MELA-AU 2 225338566 225338566 single base substitution C T 3_prime_UTR_variant MELA-AU 2 225338566 225338566 single base substitution C T downstream_gene_variant MELA-AU 2 225339054 225339054 single base substitution C A 3_prime_UTR_variant MELA-AU 2 225339054 225339054 single base substitution C A downstream_gene_variant MELA-AU 2 225339054 225339054 single base substitution C A exon_variant MELA-AU 2 225339054 225339054 single base substitution C A missense_variant V673F 2017G>T MELA-AU 2 225339054 225339054 single base substitution C A missense_variant V715F 2143G>T MELA-AU 2 225339054 225339054 single base substitution C A missense_variant V739F 2215G>T MELA-AU 2 225339054 225339054 single base substitution C A missense_variant V81F 241G>T MELA-AU 2 225339173 225339173 single base substitution A G downstream_gene_variant MELA-AU 2 225339173 225339173 single base substitution A G intron_variant MELA-AU 2 225339925 225339925 single base substitution G A downstream_gene_variant MELA-AU 2 225339925 225339925 single base substitution G A intron_variant MELA-AU 2 225340255 225340255 single base substitution G A downstream_gene_variant MELA-AU 2 225340255 225340255 single base substitution G A intron_variant MELA-AU 2 225341594 225341594 single base substitution T C downstream_gene_variant MELA-AU 2 225341594 225341594 single base substitution T C intron_variant MELA-AU 2 225341716 225341716 single base substitution G A downstream_gene_variant MELA-AU 2 225341716 225341716 single base substitution G A intron_variant MELA-AU 2 225342630 225342630 single base substitution G A downstream_gene_variant MELA-AU 2 225342630 225342630 single base substitution G A intron_variant MELA-AU 2 225343578 225343578 single base substitution G T exon_variant MELA-AU 2 225343578 225343578 single base substitution G T intron_variant MELA-AU 2 225343727 225343727 single base substitution C T exon_variant MELA-AU 2 225343727 225343727 single base substitution C T intron_variant MELA-AU 2 225344697 225344697 single base substitution G A exon_variant MELA-AU 2 225344697 225344697 single base substitution G A intron_variant MELA-AU 2 225345188 225345188 single base substitution C T intron_variant MELA-AU 2 225345188 225345188 single base substitution C T upstream_gene_variant MELA-AU 2 225345517 225345517 single base substitution G A intron_variant MELA-AU 2 225345517 225345517 single base substitution G A upstream_gene_variant MELA-AU 2 225345959 225345959 single base substitution T G intron_variant MELA-AU 2 225345959 225345959 single base substitution T G upstream_gene_variant MELA-AU 2 225347435 225347435 single base substitution G A intron_variant MELA-AU 2 225347435 225347435 single base substitution G A upstream_gene_variant MELA-AU 2 225348078 225348079 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 225348078 225348079 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 225348865 225348865 single base substitution G A intron_variant MELA-AU 2 225348865 225348865 single base substitution G A upstream_gene_variant MELA-AU 2 225349201 225349201 single base substitution G A intron_variant MELA-AU 2 225349201 225349201 single base substitution G A upstream_gene_variant MELA-AU 2 225349540 225349540 single base substitution G A intron_variant MELA-AU 2 225349540 225349540 single base substitution G A upstream_gene_variant MELA-AU 2 225350619 225350619 single base substitution C T intron_variant MELA-AU 2 225350619 225350619 single base substitution C T upstream_gene_variant MELA-AU 2 225351559 225351559 single base substitution G A intron_variant MELA-AU 2 225351559 225351559 single base substitution G A upstream_gene_variant MELA-AU 2 225351959 225351959 single base substitution G A intron_variant MELA-AU 2 225351959 225351959 single base substitution G A upstream_gene_variant MELA-AU 2 225352003 225352003 single base substitution G A intron_variant MELA-AU 2 225352003 225352003 single base substitution G A upstream_gene_variant MELA-AU 2 225352027 225352028 deletion of <=200bp AC - intron_variant MELA-AU 2 225352027 225352028 deletion of <=200bp AC - upstream_gene_variant MELA-AU 2 225352114 225352114 single base substitution G A intron_variant MELA-AU 2 225352114 225352114 single base substitution G A upstream_gene_variant MELA-AU 2 225352128 225352128 single base substitution G A intron_variant MELA-AU 2 225352128 225352128 single base substitution G A upstream_gene_variant MELA-AU 2 225352480 225352480 single base substitution G A intron_variant MELA-AU 2 225352480 225352480 single base substitution G A upstream_gene_variant MELA-AU 2 225352826 225352826 single base substitution G A intron_variant MELA-AU 2 225352826 225352826 single base substitution G A upstream_gene_variant MELA-AU 2 225353378 225353378 single base substitution A C intron_variant MELA-AU 2 225353378 225353378 single base substitution A C upstream_gene_variant MELA-AU 2 225353539 225353539 single base substitution C T intron_variant MELA-AU 2 225353539 225353539 single base substitution C T upstream_gene_variant MELA-AU 2 225353773 225353773 single base substitution C T intron_variant MELA-AU 2 225353773 225353773 single base substitution C T upstream_gene_variant MELA-AU 2 225355564 225355564 single base substitution G A downstream_gene_variant MELA-AU 2 225355564 225355564 single base substitution G A intron_variant MELA-AU 2 225355577 225355577 single base substitution G A downstream_gene_variant MELA-AU 2 225355577 225355577 single base substitution G A intron_variant MELA-AU 2 225355771 225355771 single base substitution C T downstream_gene_variant MELA-AU 2 225355771 225355771 single base substitution C T intron_variant MELA-AU 2 225356404 225356404 single base substitution G A downstream_gene_variant MELA-AU 2 225356404 225356404 single base substitution G A intron_variant MELA-AU 2 225358730 225358730 single base substitution G A downstream_gene_variant MELA-AU 2 225358730 225358730 single base substitution G A intron_variant MELA-AU 2 225359253 225359253 single base substitution G A downstream_gene_variant MELA-AU 2 225359253 225359253 single base substitution G A intron_variant MELA-AU 2 225359320 225359320 single base substitution G A downstream_gene_variant MELA-AU 2 225359320 225359320 single base substitution G A intron_variant MELA-AU 2 225359884 225359884 single base substitution A G exon_variant MELA-AU 2 225359884 225359884 single base substitution A G intron_variant MELA-AU 2 225360055 225360055 single base substitution C T exon_variant MELA-AU 2 225360055 225360055 single base substitution C T intron_variant MELA-AU 2 225361139 225361139 single base substitution G A intron_variant MELA-AU 2 225361139 225361139 single base substitution G A upstream_gene_variant MELA-AU 2 225361290 225361290 single base substitution G A intron_variant MELA-AU 2 225361290 225361290 single base substitution G A upstream_gene_variant MELA-AU 2 225361473 225361473 single base substitution G A intron_variant MELA-AU 2 225361473 225361473 single base substitution G A upstream_gene_variant MELA-AU 2 225361482 225361482 single base substitution G A intron_variant MELA-AU 2 225361482 225361482 single base substitution G A upstream_gene_variant MELA-AU 2 225361695 225361695 single base substitution G A intron_variant MELA-AU 2 225361695 225361695 single base substitution G A upstream_gene_variant MELA-AU 2 225362677 225362677 single base substitution G A intron_variant MELA-AU 2 225362677 225362677 single base substitution G A upstream_gene_variant MELA-AU 2 225362705 225362705 single base substitution G A intron_variant MELA-AU 2 225362705 225362705 single base substitution G A upstream_gene_variant MELA-AU 2 225363037 225363037 single base substitution C T downstream_gene_variant MELA-AU 2 225363037 225363037 single base substitution C T intron_variant MELA-AU 2 225363037 225363037 single base substitution C T upstream_gene_variant MELA-AU 2 225363223 225363223 single base substitution T A downstream_gene_variant MELA-AU 2 225363223 225363223 single base substitution T A intron_variant MELA-AU 2 225363223 225363223 single base substitution T A upstream_gene_variant MELA-AU 2 225363286 225363286 single base substitution G A downstream_gene_variant MELA-AU 2 225363286 225363286 single base substitution G A intron_variant MELA-AU 2 225363286 225363286 single base substitution G A upstream_gene_variant MELA-AU 2 225363720 225363720 single base substitution A C downstream_gene_variant MELA-AU 2 225363720 225363720 single base substitution A C intron_variant MELA-AU 2 225363720 225363720 single base substitution A C upstream_gene_variant MELA-AU 2 225364141 225364141 single base substitution G A downstream_gene_variant MELA-AU 2 225364141 225364141 single base substitution G A intron_variant MELA-AU 2 225364141 225364141 single base substitution G A upstream_gene_variant MELA-AU 2 225364483 225364483 single base substitution G A downstream_gene_variant MELA-AU 2 225364483 225364483 single base substitution G A intron_variant MELA-AU 2 225364483 225364483 single base substitution G A upstream_gene_variant MELA-AU 2 225364603 225364603 single base substitution G A downstream_gene_variant MELA-AU 2 225364603 225364603 single base substitution G A intron_variant MELA-AU 2 225364603 225364603 single base substitution G A upstream_gene_variant MELA-AU 2 225364926 225364926 single base substitution G A downstream_gene_variant MELA-AU 2 225364926 225364926 single base substitution G A intron_variant MELA-AU 2 225364926 225364926 single base substitution G A upstream_gene_variant MELA-AU 2 225364993 225364993 single base substitution C T downstream_gene_variant MELA-AU 2 225364993 225364993 single base substitution C T intron_variant MELA-AU 2 225364993 225364993 single base substitution C T upstream_gene_variant MELA-AU 2 225365611 225365611 single base substitution G A downstream_gene_variant MELA-AU 2 225365611 225365611 single base substitution G A intron_variant MELA-AU 2 225365611 225365611 single base substitution G A upstream_gene_variant MELA-AU 2 225366517 225366517 single base substitution A C downstream_gene_variant MELA-AU 2 225366517 225366517 single base substitution A C intron_variant MELA-AU 2 225366517 225366517 single base substitution A C upstream_gene_variant MELA-AU 2 225368204 225368204 single base substitution G A downstream_gene_variant MELA-AU 2 225368204 225368204 single base substitution G A intron_variant MELA-AU 2 225368204 225368204 single base substitution G A upstream_gene_variant MELA-AU 2 225369014 225369014 single base substitution C T downstream_gene_variant MELA-AU 2 225369014 225369014 single base substitution C T exon_variant MELA-AU 2 225369014 225369014 single base substitution C T intron_variant MELA-AU 2 225369014 225369014 single base substitution C T upstream_gene_variant MELA-AU 2 225369295 225369295 single base substitution G A downstream_gene_variant MELA-AU 2 225369295 225369295 single base substitution G A intron_variant MELA-AU 2 225369295 225369295 single base substitution G A upstream_gene_variant MELA-AU 2 225369389 225369389 single base substitution G A downstream_gene_variant MELA-AU 2 225369389 225369389 single base substitution G A intron_variant MELA-AU 2 225369389 225369389 single base substitution G A upstream_gene_variant MELA-AU 2 225370057 225370057 single base substitution T C downstream_gene_variant MELA-AU 2 225370057 225370057 single base substitution T C intron_variant MELA-AU 2 225370057 225370057 single base substitution T C upstream_gene_variant MELA-AU 2 225370932 225370932 single base substitution A T intron_variant MELA-AU 2 225370932 225370932 single base substitution A T upstream_gene_variant MELA-AU 2 225371074 225371074 single base substitution G A intron_variant MELA-AU 2 225371074 225371074 single base substitution G A upstream_gene_variant MELA-AU 2 225371438 225371438 single base substitution G A downstream_gene_variant MELA-AU 2 225371438 225371438 single base substitution G A intron_variant MELA-AU 2 225371438 225371438 single base substitution G A upstream_gene_variant MELA-AU 2 225372120 225372120 single base substitution G A downstream_gene_variant MELA-AU 2 225372120 225372120 single base substitution G A intron_variant MELA-AU 2 225372120 225372120 single base substitution G A upstream_gene_variant MELA-AU 2 225372650 225372650 single base substitution G A downstream_gene_variant MELA-AU 2 225372650 225372650 single base substitution G A intron_variant MELA-AU 2 225372650 225372650 single base substitution G A upstream_gene_variant MELA-AU 2 225373840 225373840 single base substitution A G downstream_gene_variant MELA-AU 2 225373840 225373840 single base substitution A G intron_variant MELA-AU 2 225373840 225373840 single base substitution A G upstream_gene_variant MELA-AU 2 225374071 225374071 single base substitution G A downstream_gene_variant MELA-AU 2 225374071 225374071 single base substitution G A intron_variant MELA-AU 2 225375246 225375246 single base substitution T A downstream_gene_variant MELA-AU 2 225375246 225375246 single base substitution T A intron_variant MELA-AU 2 225376005 225376005 single base substitution G A downstream_gene_variant MELA-AU 2 225376005 225376005 single base substitution G A intron_variant MELA-AU 2 225376876 225376876 single base substitution G A downstream_gene_variant MELA-AU 2 225376876 225376876 single base substitution G A intron_variant MELA-AU 2 225376876 225376876 single base substitution G A upstream_gene_variant MELA-AU 2 225376956 225376956 single base substitution G A downstream_gene_variant MELA-AU 2 225376956 225376956 single base substitution G A intron_variant MELA-AU 2 225376956 225376956 single base substitution G A upstream_gene_variant MELA-AU 2 225376961 225376961 single base substitution C G downstream_gene_variant MELA-AU 2 225376961 225376961 single base substitution C G intron_variant MELA-AU 2 225376961 225376961 single base substitution C G upstream_gene_variant MELA-AU 2 225376989 225376989 single base substitution A G downstream_gene_variant MELA-AU 2 225376989 225376989 single base substitution A G intron_variant MELA-AU 2 225376989 225376989 single base substitution A G upstream_gene_variant MELA-AU 2 225377056 225377056 single base substitution A G downstream_gene_variant MELA-AU 2 225377056 225377056 single base substitution A G intron_variant MELA-AU 2 225377056 225377056 single base substitution A G upstream_gene_variant MELA-AU 2 225377931 225377931 single base substitution G A downstream_gene_variant MELA-AU 2 225377931 225377931 single base substitution G A intron_variant MELA-AU 2 225377931 225377931 single base substitution G A upstream_gene_variant MELA-AU 2 225378082 225378082 single base substitution G C downstream_gene_variant MELA-AU 2 225378082 225378082 single base substitution G C intron_variant MELA-AU 2 225378082 225378082 single base substitution G C upstream_gene_variant MELA-AU 2 225378272 225378272 single base substitution G A downstream_gene_variant MELA-AU 2 225378272 225378272 single base substitution G A exon_variant MELA-AU 2 225378272 225378272 single base substitution G A missense_variant P142L 425C>T MELA-AU 2 225378272 225378272 single base substitution G A missense_variant P184L 551C>T MELA-AU 2 225378272 225378272 single base substitution G A missense_variant P208L 623C>T MELA-AU 2 225378272 225378272 single base substitution G A upstream_gene_variant MELA-AU 2 225378639 225378639 single base substitution G A downstream_gene_variant MELA-AU 2 225378639 225378639 single base substitution G A intron_variant MELA-AU 2 225378639 225378639 single base substitution G A upstream_gene_variant MELA-AU 2 225378730 225378730 single base substitution G A downstream_gene_variant MELA-AU 2 225378730 225378730 single base substitution G A intron_variant MELA-AU 2 225378730 225378730 single base substitution G A upstream_gene_variant MELA-AU 2 225379618 225379618 single base substitution G A intron_variant MELA-AU 2 225379618 225379618 single base substitution G A upstream_gene_variant MELA-AU 2 225379860 225379860 single base substitution A G intron_variant MELA-AU 2 225379860 225379860 single base substitution A G upstream_gene_variant MELA-AU 2 225379999 225379999 single base substitution T C intron_variant MELA-AU 2 225379999 225379999 single base substitution T C upstream_gene_variant MELA-AU 2 225380632 225380632 single base substitution C T intron_variant MELA-AU 2 225380632 225380632 single base substitution C T upstream_gene_variant MELA-AU 2 225381254 225381254 single base substitution G A intron_variant MELA-AU 2 225382378 225382378 single base substitution A G intron_variant MELA-AU 2 225382506 225382506 single base substitution A T intron_variant MELA-AU 2 225382720 225382720 single base substitution T C intron_variant MELA-AU 2 225384046 225384046 single base substitution C T intron_variant MELA-AU 2 225384268 225384268 single base substitution A T intron_variant MELA-AU 2 225384301 225384301 single base substitution G A intron_variant MELA-AU 2 225385088 225385088 single base substitution G A intron_variant MELA-AU 2 225385131 225385131 single base substitution A G intron_variant MELA-AU 2 225385170 225385170 single base substitution T C intron_variant MELA-AU 2 225385995 225385995 single base substitution G A intron_variant MELA-AU 2 225386127 225386127 single base substitution T A intron_variant MELA-AU 2 225386436 225386436 single base substitution G A intron_variant MELA-AU 2 225386680 225386680 single base substitution G A intron_variant MELA-AU 2 225387521 225387521 single base substitution G A intron_variant MELA-AU 2 225387759 225387759 single base substitution G A intron_variant MELA-AU 2 225387943 225387943 single base substitution C T intron_variant MELA-AU 2 225388686 225388686 single base substitution G A intron_variant MELA-AU 2 225390765 225390765 single base substitution A G intron_variant MELA-AU 2 225391062 225391062 single base substitution G A intron_variant MELA-AU 2 225391090 225391090 single base substitution G A intron_variant MELA-AU 2 225391101 225391101 single base substitution G A intron_variant MELA-AU 2 225391174 225391174 single base substitution G A intron_variant MELA-AU 2 225392324 225392324 single base substitution C T intron_variant MELA-AU 2 225392600 225392600 single base substitution C T intron_variant MELA-AU 2 225392981 225392981 single base substitution G A intron_variant MELA-AU 2 225393235 225393235 single base substitution G A intron_variant MELA-AU 2 225393283 225393283 deletion of <=200bp A - intron_variant MELA-AU 2 225394131 225394131 single base substitution G T intron_variant MELA-AU 2 225394261 225394261 single base substitution G A intron_variant MELA-AU 2 225394345 225394345 single base substitution G A intron_variant MELA-AU 2 225394882 225394882 single base substitution G A intron_variant MELA-AU 2 225395117 225395117 single base substitution G A intron_variant MELA-AU 2 225395416 225395416 single base substitution G A downstream_gene_variant MELA-AU 2 225395416 225395416 single base substitution G A intron_variant MELA-AU 2 225395622 225395642 deletion of <=200bp TCAAAAAACAAAACCAAACAA - downstream_gene_variant MELA-AU 2 225395622 225395642 deletion of <=200bp TCAAAAAACAAAACCAAACAA - intron_variant MELA-AU 2 225395771 225395771 single base substitution G A downstream_gene_variant MELA-AU 2 225395771 225395771 single base substitution G A intron_variant MELA-AU 2 225396089 225396089 single base substitution G A downstream_gene_variant MELA-AU 2 225396089 225396089 single base substitution G A intron_variant MELA-AU 2 225397136 225397136 single base substitution T C downstream_gene_variant MELA-AU 2 225397136 225397136 single base substitution T C intron_variant MELA-AU 2 225398080 225398080 single base substitution T G downstream_gene_variant MELA-AU 2 225398080 225398080 single base substitution T G intron_variant MELA-AU 2 225398080 225398080 single base substitution T G upstream_gene_variant MELA-AU 2 225398190 225398190 single base substitution G A downstream_gene_variant MELA-AU 2 225398190 225398190 single base substitution G A intron_variant MELA-AU 2 225398190 225398190 single base substitution G A upstream_gene_variant MELA-AU 2 225398209 225398209 single base substitution G A downstream_gene_variant MELA-AU 2 225398209 225398209 single base substitution G A intron_variant MELA-AU 2 225398209 225398209 single base substitution G A upstream_gene_variant MELA-AU 2 225399277 225399278 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 225399277 225399278 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 225399277 225399278 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 225399719 225399719 insertion of <=200bp - AAATAAAT downstream_gene_variant MELA-AU 2 225399719 225399719 insertion of <=200bp - AAATAAAT intron_variant MELA-AU 2 225399719 225399719 insertion of <=200bp - AAATAAAT upstream_gene_variant MELA-AU 2 225399778 225399778 single base substitution G T downstream_gene_variant MELA-AU 2 225399778 225399778 single base substitution G T intron_variant MELA-AU 2 225399778 225399778 single base substitution G T upstream_gene_variant MELA-AU 2 225399889 225399889 single base substitution G A downstream_gene_variant MELA-AU 2 225399889 225399889 single base substitution G A intron_variant MELA-AU 2 225399889 225399889 single base substitution G A upstream_gene_variant MELA-AU 2 225400025 225400025 single base substitution G A downstream_gene_variant MELA-AU 2 225400025 225400025 single base substitution G A intron_variant MELA-AU 2 225400025 225400025 single base substitution G A upstream_gene_variant MELA-AU 2 225400332 225400332 single base substitution C T exon_variant MELA-AU 2 225400332 225400332 single base substitution C T synonymous_variant L117L 351G>A MELA-AU 2 225400332 225400332 single base substitution C T synonymous_variant L31L 93G>A MELA-AU 2 225400332 225400332 single base substitution C T synonymous_variant L73L 219G>A MELA-AU 2 225400332 225400332 single base substitution C T synonymous_variant L97L 291G>A MELA-AU 2 225400332 225400332 single base substitution C T upstream_gene_variant MELA-AU 2 225401530 225401530 single base substitution G T intron_variant MELA-AU 2 225401530 225401530 single base substitution G T upstream_gene_variant MELA-AU 2 225402006 225402006 single base substitution G A intron_variant MELA-AU 2 225402006 225402006 single base substitution G A upstream_gene_variant MELA-AU 2 225402321 225402321 single base substitution C T intron_variant MELA-AU 2 225402321 225402321 single base substitution C T upstream_gene_variant MELA-AU 2 225402562 225402562 single base substitution C T intron_variant MELA-AU 2 225402562 225402562 single base substitution C T upstream_gene_variant MELA-AU 2 225403392 225403392 single base substitution G A intron_variant MELA-AU 2 225404032 225404032 single base substitution G A intron_variant MELA-AU 2 225405015 225405015 single base substitution T C intron_variant MELA-AU 2 225405044 225405044 single base substitution G C intron_variant MELA-AU 2 225405091 225405091 deletion of <=200bp A - intron_variant MELA-AU 2 225405183 225405183 single base substitution G A intron_variant MELA-AU 2 225405365 225405365 single base substitution A C intron_variant MELA-AU 2 225407230 225407230 single base substitution G A intron_variant MELA-AU 2 225407232 225407232 single base substitution A G intron_variant MELA-AU 2 225407236 225407236 single base substitution G A intron_variant MELA-AU 2 225407289 225407289 single base substitution C T intron_variant MELA-AU 2 225407720 225407720 single base substitution A C intron_variant MELA-AU 2 225407938 225407939 multiple base substitution (>=2bp and <=200bp) TT AC intron_variant MELA-AU 2 225408490 225408490 single base substitution C T intron_variant MELA-AU 2 225409013 225409013 single base substitution C T intron_variant MELA-AU 2 225409420 225409420 single base substitution T A intron_variant MELA-AU 2 225410213 225410213 single base substitution G A intron_variant MELA-AU 2 225413002 225413002 single base substitution G A intron_variant MELA-AU 2 225413568 225413568 single base substitution A T intron_variant MELA-AU 2 225413696 225413696 single base substitution G A intron_variant MELA-AU 2 225414033 225414033 single base substitution G A intron_variant MELA-AU 2 225415133 225415133 single base substitution G A intron_variant MELA-AU 2 225415972 225415972 single base substitution G A intron_variant MELA-AU 2 225416318 225416319 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 225417923 225417923 single base substitution G T intron_variant MELA-AU 2 225418387 225418387 single base substitution G A intron_variant MELA-AU 2 225418481 225418481 single base substitution G A intron_variant MELA-AU 2 225418765 225418765 single base substitution G A intron_variant MELA-AU 2 225419054 225419054 single base substitution G A intron_variant MELA-AU 2 225419117 225419117 single base substitution G A intron_variant MELA-AU 2 225419481 225419481 single base substitution G A intron_variant MELA-AU 2 225421337 225421338 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 225422555 225422555 single base substitution A G exon_variant MELA-AU 2 225422555 225422555 single base substitution A G intron_variant MELA-AU 2 225422555 225422555 single base substitution A G missense_variant Y29H 85T>C MELA-AU 2 225422555 225422555 single base substitution A G missense_variant Y49H 145T>C MELA-AU 2 225422555 225422555 single base substitution A G missense_variant Y5H 13T>C MELA-AU 2 225422555 225422555 single base substitution A G upstream_gene_variant MELA-AU 2 225422736 225422736 single base substitution G A intron_variant MELA-AU 2 225422736 225422736 single base substitution G A upstream_gene_variant MELA-AU 2 225423418 225423418 single base substitution G A intron_variant MELA-AU 2 225423418 225423418 single base substitution G A upstream_gene_variant MELA-AU 2 225423530 225423530 single base substitution C T intron_variant MELA-AU 2 225423530 225423530 single base substitution C T upstream_gene_variant MELA-AU 2 225424094 225424094 single base substitution C T intron_variant MELA-AU 2 225424094 225424094 single base substitution C T upstream_gene_variant MELA-AU 2 225424950 225424950 single base substitution G A intron_variant MELA-AU 2 225424950 225424950 single base substitution G A upstream_gene_variant MELA-AU 2 225425599 225425599 single base substitution C A intron_variant MELA-AU 2 225425599 225425599 single base substitution C A upstream_gene_variant MELA-AU 2 225427936 225427936 single base substitution G A 5_prime_UTR_variant MELA-AU 2 225427936 225427936 single base substitution G A intron_variant MELA-AU 2 225427936 225427936 single base substitution G A missense_variant S34F 101C>T MELA-AU 2 225427936 225427936 single base substitution G A upstream_gene_variant MELA-AU 2 225428429 225428429 single base substitution A C intron_variant MELA-AU 2 225428429 225428429 single base substitution A C upstream_gene_variant MELA-AU 2 225428446 225428446 single base substitution C T intron_variant MELA-AU 2 225428446 225428446 single base substitution C T upstream_gene_variant MELA-AU 2 225428870 225428870 single base substitution G A intron_variant MELA-AU 2 225428870 225428870 single base substitution G A upstream_gene_variant MELA-AU 2 225429141 225429141 single base substitution G A intron_variant MELA-AU 2 225429141 225429141 single base substitution G A upstream_gene_variant MELA-AU 2 225429380 225429380 single base substitution G A intron_variant MELA-AU 2 225429380 225429380 single base substitution G A upstream_gene_variant MELA-AU 2 225429558 225429558 single base substitution C G intron_variant MELA-AU 2 225429558 225429558 single base substitution C G upstream_gene_variant MELA-AU 2 225429645 225429645 single base substitution A C intron_variant MELA-AU 2 225429645 225429645 single base substitution A C upstream_gene_variant MELA-AU 2 225430449 225430449 single base substitution G A intron_variant MELA-AU 2 225430449 225430449 single base substitution G A upstream_gene_variant MELA-AU 2 225430494 225430494 single base substitution G A intron_variant MELA-AU 2 225430494 225430494 single base substitution G A upstream_gene_variant MELA-AU 2 225430780 225430780 single base substitution G A intron_variant MELA-AU 2 225430780 225430780 single base substitution G A upstream_gene_variant MELA-AU 2 225432127 225432127 single base substitution G A intron_variant MELA-AU 2 225432127 225432127 single base substitution G A upstream_gene_variant MELA-AU 2 225432274 225432274 single base substitution G A intron_variant MELA-AU 2 225432274 225432274 single base substitution G A upstream_gene_variant MELA-AU 2 225432866 225432866 single base substitution G A intron_variant MELA-AU 2 225432866 225432866 single base substitution G A upstream_gene_variant MELA-AU 2 225433448 225433448 single base substitution G A intron_variant MELA-AU 2 225434706 225434706 single base substitution A C intron_variant MELA-AU 2 225434706 225434706 single base substitution A C upstream_gene_variant MELA-AU 2 225434765 225434765 single base substitution A T intron_variant MELA-AU 2 225434765 225434765 single base substitution A T upstream_gene_variant MELA-AU 2 225434767 225434767 single base substitution G A intron_variant MELA-AU 2 225434767 225434767 single base substitution G A upstream_gene_variant MELA-AU 2 225435361 225435361 single base substitution G A intron_variant MELA-AU 2 225435361 225435361 single base substitution G A upstream_gene_variant MELA-AU 2 225436034 225436034 single base substitution C T intron_variant MELA-AU 2 225436034 225436034 single base substitution C T upstream_gene_variant MELA-AU 2 225436209 225436209 single base substitution G A intron_variant MELA-AU 2 225436209 225436209 single base substitution G A upstream_gene_variant MELA-AU 2 225436950 225436950 single base substitution C T intron_variant MELA-AU 2 225436950 225436950 single base substitution C T upstream_gene_variant MELA-AU 2 225437363 225437363 single base substitution A T intron_variant MELA-AU 2 225437363 225437363 single base substitution A T upstream_gene_variant MELA-AU 2 225438023 225438023 single base substitution C T intron_variant MELA-AU 2 225438023 225438023 single base substitution C T upstream_gene_variant MELA-AU 2 225440162 225440162 single base substitution G A intron_variant MELA-AU 2 225440497 225440497 single base substitution G A intron_variant MELA-AU 2 225440658 225440658 single base substitution G A intron_variant MELA-AU 2 225441272 225441272 single base substitution G A intron_variant MELA-AU 2 225441414 225441414 single base substitution G A intron_variant MELA-AU 2 225441438 225441438 single base substitution G A intron_variant MELA-AU 2 225441444 225441444 single base substitution G A intron_variant MELA-AU 2 225441921 225441921 single base substitution G A intron_variant MELA-AU 2 225442061 225442061 single base substitution G A intron_variant MELA-AU 2 225442085 225442085 single base substitution A G intron_variant MELA-AU 2 225442503 225442504 multiple base substitution (>=2bp and <=200bp) GT AC intron_variant MELA-AU 2 225443044 225443044 single base substitution G A intron_variant MELA-AU 2 225443115 225443115 single base substitution G A intron_variant MELA-AU 2 225443441 225443441 single base substitution A G intron_variant MELA-AU 2 225444260 225444260 single base substitution G A intron_variant MELA-AU 2 225444605 225444605 single base substitution C A intron_variant MELA-AU 2 225445028 225445028 single base substitution G A intron_variant MELA-AU 2 225445268 225445268 single base substitution G C intron_variant MELA-AU 2 225446005 225446005 single base substitution G A intron_variant MELA-AU 2 225446660 225446660 single base substitution G A intron_variant MELA-AU 2 225447639 225447639 single base substitution T G intron_variant MELA-AU 2 225447941 225447941 single base substitution G A intron_variant MELA-AU 2 225448066 225448066 single base substitution G A intron_variant MELA-AU 2 225448068 225448068 single base substitution A C intron_variant MELA-AU 2 225449667 225449667 single base substitution G A synonymous_variant A20A 60C>T MELA-AU 2 225450255 225450255 single base substitution G A upstream_gene_variant MELA-AU 2 225450273 225450273 single base substitution C T upstream_gene_variant MELA-AU 2 225450288 225450288 single base substitution G C upstream_gene_variant MELA-AU 2 225450334 225450334 single base substitution G A upstream_gene_variant MELA-AU 2 225450345 225450345 single base substitution G A upstream_gene_variant MELA-AU 2 225450376 225450376 single base substitution G A upstream_gene_variant MELA-AU 2 225450381 225450381 single base substitution G A upstream_gene_variant MELA-AU 2 225450382 225450382 single base substitution G A upstream_gene_variant MELA-AU 2 225450483 225450483 single base substitution G A upstream_gene_variant MELA-AU 2 225450902 225450902 single base substitution T C upstream_gene_variant MELA-AU 2 225451356 225451356 single base substitution G A upstream_gene_variant MELA-AU 2 225451749 225451749 single base substitution A G upstream_gene_variant MELA-AU 2 225452410 225452410 single base substitution G A upstream_gene_variant MELA-AU 2 225452443 225452443 single base substitution C T upstream_gene_variant MELA-AU 2 225453027 225453027 single base substitution C T upstream_gene_variant MELA-AU 2 225453569 225453569 single base substitution A G upstream_gene_variant MELA-AU 2 225454321 225454322 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 225454586 225454586 single base substitution C T upstream_gene_variant MELA-AU 2 225454641 225454641 single base substitution C T upstream_gene_variant MELA-AU 2 225454669 225454669 single base substitution C T upstream_gene_variant MELA-AU 2 225454671 225454671 single base substitution C T upstream_gene_variant MELA-AU 2 225454766 225454766 single base substitution C T upstream_gene_variant MELA-AU 2 225455005 225455005 single base substitution C T upstream_gene_variant ORCA-IN 2 225344072 225344072 insertion of <=200bp - A exon_variant ORCA-IN 2 225344072 225344072 insertion of <=200bp - A intron_variant ORCA-IN 2 225352152 225352152 insertion of <=200bp - C intron_variant ORCA-IN 2 225352152 225352152 insertion of <=200bp - C upstream_gene_variant ORCA-IN 2 225367532 225367532 single base substitution G A downstream_gene_variant ORCA-IN 2 225367532 225367532 single base substitution G A intron_variant ORCA-IN 2 225367532 225367532 single base substitution G A upstream_gene_variant ORCA-IN 2 225374936 225374936 insertion of <=200bp - C downstream_gene_variant ORCA-IN 2 225374936 225374936 insertion of <=200bp - C intron_variant ORCA-IN 2 225374937 225374937 deletion of <=200bp T - downstream_gene_variant ORCA-IN 2 225374937 225374937 deletion of <=200bp T - intron_variant ORCA-IN 2 225379374 225379375 deletion of <=200bp AG - exon_variant ORCA-IN 2 225379374 225379375 deletion of <=200bp AG - frameshift_variant L141 ORCA-IN 2 225379374 225379375 deletion of <=200bp AG - frameshift_variant L165 ORCA-IN 2 225379374 225379375 deletion of <=200bp AG - frameshift_variant L185 ORCA-IN 2 225379374 225379375 deletion of <=200bp AG - frameshift_variant L99 ORCA-IN 2 225379374 225379375 deletion of <=200bp AG - upstream_gene_variant ORCA-IN 2 225379453 225379453 single base substitution C A exon_variant ORCA-IN 2 225379453 225379453 single base substitution C A missense_variant V115F 343G>T ORCA-IN 2 225379453 225379453 single base substitution C A missense_variant V139F 415G>T ORCA-IN 2 225379453 225379453 single base substitution C A missense_variant V159F 475G>T ORCA-IN 2 225379453 225379453 single base substitution C A missense_variant V73F 217G>T ORCA-IN 2 225379453 225379453 single base substitution C A upstream_gene_variant ORCA-IN 2 225386150 225386150 insertion of <=200bp - T intron_variant ORCA-IN 2 225386151 225386151 deletion of <=200bp T - intron_variant ORCA-IN 2 225386514 225386514 deletion of <=200bp A - intron_variant ORCA-IN 2 225387261 225387261 single base substitution C T intron_variant ORCA-IN 2 225391535 225391535 deletion of <=200bp A - intron_variant ORCA-IN 2 225393668 225393668 single base substitution G C intron_variant ORCA-IN 2 225397486 225397486 single base substitution G C downstream_gene_variant ORCA-IN 2 225397486 225397486 single base substitution G C intron_variant ORCA-IN 2 225404485 225404485 insertion of <=200bp - A intron_variant ORCA-IN 2 225404777 225404777 single base substitution T C intron_variant ORCA-IN 2 225405122 225405122 deletion of <=200bp A - intron_variant ORCA-IN 2 225407232 225407232 single base substitution A G intron_variant ORCA-IN 2 225408346 225408346 single base substitution C A intron_variant ORCA-IN 2 225414044 225414044 insertion of <=200bp - A intron_variant ORCA-IN 2 225415786 225415786 deletion of <=200bp T - intron_variant ORCA-IN 2 225416457 225416457 single base substitution G C intron_variant ORCA-IN 2 225424259 225424259 single base substitution C G intron_variant ORCA-IN 2 225424259 225424259 single base substitution C G upstream_gene_variant ORCA-IN 2 225426021 225426021 single base substitution C T intron_variant ORCA-IN 2 225426021 225426021 single base substitution C T upstream_gene_variant ORCA-IN 2 225434674 225434674 deletion of <=200bp A - intron_variant ORCA-IN 2 225434674 225434674 deletion of <=200bp A - upstream_gene_variant ORCA-IN 2 225434863 225434863 single base substitution A T intron_variant ORCA-IN 2 225434863 225434863 single base substitution A T upstream_gene_variant ORCA-IN 2 225437198 225437198 deletion of <=200bp A - intron_variant ORCA-IN 2 225437198 225437198 deletion of <=200bp A - upstream_gene_variant ORCA-IN 2 225437198 225437199 deletion of <=200bp AA - intron_variant ORCA-IN 2 225437198 225437199 deletion of <=200bp AA - upstream_gene_variant ORCA-IN 2 225446226 225446226 deletion of <=200bp T - intron_variant ORCA-IN 2 225449173 225449173 single base substitution G C intron_variant ORCA-IN 2 225454538 225454538 single base substitution G A upstream_gene_variant OV-AU 2 225336320 225336320 single base substitution C G 3_prime_UTR_variant OV-AU 2 225336320 225336320 single base substitution C G downstream_gene_variant OV-AU 2 225341571 225341571 single base substitution C G downstream_gene_variant OV-AU 2 225341571 225341571 single base substitution C G intron_variant OV-AU 2 225347285 225347285 single base substitution T C intron_variant OV-AU 2 225347285 225347285 single base substitution T C upstream_gene_variant OV-AU 2 225352440 225352440 single base substitution C A intron_variant OV-AU 2 225352440 225352440 single base substitution C A upstream_gene_variant OV-AU 2 225352848 225352848 single base substitution C A intron_variant OV-AU 2 225352848 225352848 single base substitution C A upstream_gene_variant OV-AU 2 225353113 225353113 single base substitution A C intron_variant OV-AU 2 225353113 225353113 single base substitution A C upstream_gene_variant OV-AU 2 225358603 225358603 single base substitution C G downstream_gene_variant OV-AU 2 225358603 225358603 single base substitution C G intron_variant OV-AU 2 225365459 225365459 single base substitution C G downstream_gene_variant OV-AU 2 225365459 225365459 single base substitution C G intron_variant OV-AU 2 225365459 225365459 single base substitution C G upstream_gene_variant OV-AU 2 225368831 225368831 single base substitution T A downstream_gene_variant OV-AU 2 225368831 225368831 single base substitution T A exon_variant OV-AU 2 225368831 225368831 single base substitution T A intron_variant OV-AU 2 225368831 225368831 single base substitution T A upstream_gene_variant OV-AU 2 225374736 225374736 single base substitution A T downstream_gene_variant OV-AU 2 225374736 225374736 single base substitution A T intron_variant OV-AU 2 225376669 225376669 single base substitution G T downstream_gene_variant OV-AU 2 225376669 225376669 single base substitution G T intron_variant OV-AU 2 225376669 225376669 single base substitution G T upstream_gene_variant OV-AU 2 225383255 225383255 single base substitution A G intron_variant OV-AU 2 225383631 225383631 single base substitution C G intron_variant OV-AU 2 225391227 225391227 single base substitution C G intron_variant OV-AU 2 225392910 225392910 single base substitution A G intron_variant OV-AU 2 225395579 225395579 single base substitution G C downstream_gene_variant OV-AU 2 225395579 225395579 single base substitution G C intron_variant OV-AU 2 225395886 225395886 single base substitution C A downstream_gene_variant OV-AU 2 225395886 225395886 single base substitution C A intron_variant OV-AU 2 225400006 225400006 single base substitution T C downstream_gene_variant OV-AU 2 225400006 225400006 single base substitution T C intron_variant OV-AU 2 225400006 225400006 single base substitution T C upstream_gene_variant OV-AU 2 225413651 225413651 single base substitution G A intron_variant OV-AU 2 225421392 225421392 single base substitution T A intron_variant OV-AU 2 225423546 225423546 single base substitution T G intron_variant OV-AU 2 225423546 225423546 single base substitution T G upstream_gene_variant OV-AU 2 225432304 225432304 single base substitution A C intron_variant OV-AU 2 225432304 225432304 single base substitution A C upstream_gene_variant OV-AU 2 225443395 225443395 single base substitution C A intron_variant OV-AU 2 225450134 225450134 single base substitution T G upstream_gene_variant PACA-AU 2 225331542 225331542 single base substitution G A downstream_gene_variant PACA-AU 2 225337095 225337095 single base substitution T A 3_prime_UTR_variant PACA-AU 2 225337095 225337095 single base substitution T A downstream_gene_variant PACA-AU 2 225347361 225347361 single base substitution G A intron_variant PACA-AU 2 225347361 225347361 single base substitution G A upstream_gene_variant PACA-AU 2 225348815 225348815 single base substitution G A intron_variant PACA-AU 2 225348815 225348815 single base substitution G A upstream_gene_variant PACA-AU 2 225349364 225349364 single base substitution A C intron_variant PACA-AU 2 225349364 225349364 single base substitution A C upstream_gene_variant PACA-AU 2 225353611 225353611 single base substitution C T intron_variant PACA-AU 2 225353611 225353611 single base substitution C T upstream_gene_variant PACA-AU 2 225355608 225355608 single base substitution G A downstream_gene_variant PACA-AU 2 225355608 225355608 single base substitution G A intron_variant PACA-AU 2 225360139 225360139 single base substitution A C exon_variant PACA-AU 2 225360139 225360139 single base substitution A C intron_variant PACA-AU 2 225362728 225362746 deletion of <=200bp CTATAGGCAAGACCTTGAG - downstream_gene_variant PACA-AU 2 225362728 225362746 deletion of <=200bp CTATAGGCAAGACCTTGAG - intron_variant PACA-AU 2 225362728 225362746 deletion of <=200bp CTATAGGCAAGACCTTGAG - upstream_gene_variant PACA-AU 2 225365910 225365910 single base substitution C T downstream_gene_variant PACA-AU 2 225365910 225365910 single base substitution C T intron_variant PACA-AU 2 225365910 225365910 single base substitution C T upstream_gene_variant PACA-AU 2 225366464 225366464 single base substitution C T downstream_gene_variant PACA-AU 2 225366464 225366464 single base substitution C T intron_variant PACA-AU 2 225366464 225366464 single base substitution C T upstream_gene_variant PACA-AU 2 225371210 225371210 single base substitution C A downstream_gene_variant PACA-AU 2 225371210 225371210 single base substitution C A intron_variant PACA-AU 2 225371210 225371210 single base substitution C A upstream_gene_variant PACA-AU 2 225374253 225374253 single base substitution T A downstream_gene_variant PACA-AU 2 225374253 225374253 single base substitution T A intron_variant PACA-AU 2 225375034 225375034 single base substitution T A downstream_gene_variant PACA-AU 2 225375034 225375034 single base substitution T A intron_variant PACA-AU 2 225376819 225376819 single base substitution C T downstream_gene_variant PACA-AU 2 225376819 225376819 single base substitution C T intron_variant PACA-AU 2 225376819 225376819 single base substitution C T upstream_gene_variant PACA-AU 2 225379364 225379364 single base substitution C T exon_variant PACA-AU 2 225379364 225379364 single base substitution C T missense_variant M102I 306G>A PACA-AU 2 225379364 225379364 single base substitution C T missense_variant M144I 432G>A PACA-AU 2 225379364 225379364 single base substitution C T missense_variant M168I 504G>A PACA-AU 2 225379364 225379364 single base substitution C T missense_variant M188I 564G>A PACA-AU 2 225379364 225379364 single base substitution C T upstream_gene_variant PACA-AU 2 225387434 225387434 single base substitution A G intron_variant PACA-AU 2 225391028 225391028 single base substitution C T intron_variant PACA-AU 2 225391324 225391324 single base substitution A G intron_variant PACA-AU 2 225399719 225399730 deletion of <=200bp AAATAAATAAAT - downstream_gene_variant PACA-AU 2 225399719 225399730 deletion of <=200bp AAATAAATAAAT - intron_variant PACA-AU 2 225399719 225399730 deletion of <=200bp AAATAAATAAAT - upstream_gene_variant PACA-AU 2 225400893 225400893 single base substitution C T intron_variant PACA-AU 2 225400893 225400893 single base substitution C T upstream_gene_variant PACA-AU 2 225421278 225421278 single base substitution G A intron_variant PACA-AU 2 225424572 225424572 single base substitution G C intron_variant PACA-AU 2 225424572 225424572 single base substitution G C upstream_gene_variant PACA-AU 2 225427153 225427153 single base substitution G A intron_variant PACA-AU 2 225427153 225427153 single base substitution G A upstream_gene_variant PACA-AU 2 225427981 225427981 single base substitution C A 5_prime_UTR_variant PACA-AU 2 225427981 225427981 single base substitution C A intron_variant PACA-AU 2 225427981 225427981 single base substitution C A missense_variant G19V 56G>T PACA-AU 2 225427981 225427981 single base substitution C A upstream_gene_variant PACA-AU 2 225437462 225437462 deletion of <=200bp T - intron_variant PACA-AU 2 225437462 225437462 deletion of <=200bp T - upstream_gene_variant PACA-AU 2 225437747 225437747 single base substitution G T intron_variant PACA-AU 2 225437747 225437747 single base substitution G T upstream_gene_variant PACA-AU 2 225443436 225443436 single base substitution A T intron_variant PACA-AU 2 225444687 225444687 single base substitution G T intron_variant PACA-AU 2 225451276 225451276 single base substitution T C upstream_gene_variant PACA-AU 2 225451718 225451718 single base substitution A T upstream_gene_variant PACA-CA 2 225331433 225331433 single base substitution T A downstream_gene_variant PACA-CA 2 225334807 225334807 single base substitution C G downstream_gene_variant PACA-CA 2 225335780 225335780 single base substitution C G 3_prime_UTR_variant PACA-CA 2 225335780 225335780 single base substitution C G downstream_gene_variant PACA-CA 2 225339880 225339880 single base substitution G A downstream_gene_variant PACA-CA 2 225339880 225339880 single base substitution G A intron_variant PACA-CA 2 225340086 225340086 single base substitution A G downstream_gene_variant PACA-CA 2 225340086 225340086 single base substitution A G intron_variant PACA-CA 2 225340476 225340476 single base substitution C G downstream_gene_variant PACA-CA 2 225340476 225340476 single base substitution C G intron_variant PACA-CA 2 225343570 225343570 single base substitution A G exon_variant PACA-CA 2 225343570 225343570 single base substitution A G intron_variant PACA-CA 2 225344060 225344060 single base substitution T A exon_variant PACA-CA 2 225344060 225344060 single base substitution T A intron_variant PACA-CA 2 225346800 225346800 single base substitution A C intron_variant PACA-CA 2 225346800 225346800 single base substitution A C splice_region_variant PACA-CA 2 225346800 225346800 single base substitution A C upstream_gene_variant PACA-CA 2 225348412 225348412 single base substitution T C intron_variant PACA-CA 2 225348412 225348412 single base substitution T C upstream_gene_variant PACA-CA 2 225348921 225348921 single base substitution T C intron_variant PACA-CA 2 225348921 225348921 single base substitution T C upstream_gene_variant PACA-CA 2 225350237 225350237 single base substitution G C intron_variant PACA-CA 2 225350237 225350237 single base substitution G C upstream_gene_variant PACA-CA 2 225357612 225357612 single base substitution C T downstream_gene_variant PACA-CA 2 225357612 225357612 single base substitution C T intron_variant PACA-CA 2 225358648 225358648 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 225358648 225358648 deletion of <=200bp T - intron_variant PACA-CA 2 225363452 225363452 single base substitution C G downstream_gene_variant PACA-CA 2 225363452 225363452 single base substitution C G intron_variant PACA-CA 2 225363452 225363452 single base substitution C G upstream_gene_variant PACA-CA 2 225364170 225364170 single base substitution C T downstream_gene_variant PACA-CA 2 225364170 225364170 single base substitution C T intron_variant PACA-CA 2 225364170 225364170 single base substitution C T upstream_gene_variant PACA-CA 2 225376844 225376844 single base substitution G A downstream_gene_variant PACA-CA 2 225376844 225376844 single base substitution G A intron_variant PACA-CA 2 225376844 225376844 single base substitution G A upstream_gene_variant PACA-CA 2 225377093 225377093 single base substitution G A downstream_gene_variant PACA-CA 2 225377093 225377093 single base substitution G A intron_variant PACA-CA 2 225377093 225377093 single base substitution G A upstream_gene_variant PACA-CA 2 225378302 225378302 single base substitution C A downstream_gene_variant PACA-CA 2 225378302 225378302 single base substitution C A exon_variant PACA-CA 2 225378302 225378302 single base substitution C A missense_variant R132I 395G>T PACA-CA 2 225378302 225378302 single base substitution C A missense_variant R174I 521G>T PACA-CA 2 225378302 225378302 single base substitution C A missense_variant R198I 593G>T PACA-CA 2 225378302 225378302 single base substitution C A upstream_gene_variant PACA-CA 2 225379689 225379689 single base substitution G T intron_variant PACA-CA 2 225379689 225379689 single base substitution G T upstream_gene_variant PACA-CA 2 225381218 225381218 single base substitution G A intron_variant PACA-CA 2 225387362 225387362 single base substitution G C intron_variant PACA-CA 2 225388115 225388115 single base substitution A C intron_variant PACA-CA 2 225389570 225389570 single base substitution A C intron_variant PACA-CA 2 225390208 225390208 single base substitution T C intron_variant PACA-CA 2 225390878 225390878 single base substitution A G intron_variant PACA-CA 2 225394799 225394799 insertion of <=200bp - A intron_variant PACA-CA 2 225394807 225394807 single base substitution T A intron_variant PACA-CA 2 225397673 225397673 single base substitution G A downstream_gene_variant PACA-CA 2 225397673 225397673 single base substitution G A intron_variant PACA-CA 2 225398445 225398445 single base substitution A G downstream_gene_variant PACA-CA 2 225398445 225398445 single base substitution A G intron_variant PACA-CA 2 225398445 225398445 single base substitution A G upstream_gene_variant PACA-CA 2 225399714 225399714 single base substitution T C downstream_gene_variant PACA-CA 2 225399714 225399714 single base substitution T C intron_variant PACA-CA 2 225399714 225399714 single base substitution T C upstream_gene_variant PACA-CA 2 225399759 225399759 single base substitution A G downstream_gene_variant PACA-CA 2 225399759 225399759 single base substitution A G intron_variant PACA-CA 2 225399759 225399759 single base substitution A G upstream_gene_variant PACA-CA 2 225399813 225399816 deletion of <=200bp AAAG - downstream_gene_variant PACA-CA 2 225399813 225399816 deletion of <=200bp AAAG - intron_variant PACA-CA 2 225399813 225399816 deletion of <=200bp AAAG - upstream_gene_variant PACA-CA 2 225401550 225401550 single base substitution A G intron_variant PACA-CA 2 225401550 225401550 single base substitution A G upstream_gene_variant PACA-CA 2 225404995 225404995 single base substitution G A intron_variant PACA-CA 2 225407232 225407232 single base substitution A G intron_variant PACA-CA 2 225407371 225407371 single base substitution C A intron_variant PACA-CA 2 225412445 225412445 insertion of <=200bp - TA intron_variant PACA-CA 2 225414140 225414140 single base substitution C T intron_variant PACA-CA 2 225414572 225414572 single base substitution T C intron_variant PACA-CA 2 225416699 225416699 single base substitution A G intron_variant PACA-CA 2 225419193 225419193 single base substitution C T intron_variant PACA-CA 2 225419746 225419746 single base substitution G A intron_variant PACA-CA 2 225421557 225421557 single base substitution C T intron_variant PACA-CA 2 225421558 225421558 single base substitution A C intron_variant PACA-CA 2 225421655 225421655 deletion of <=200bp T - intron_variant PACA-CA 2 225431440 225431440 single base substitution C T intron_variant PACA-CA 2 225431440 225431440 single base substitution C T upstream_gene_variant PACA-CA 2 225432499 225432499 single base substitution C G intron_variant PACA-CA 2 225432499 225432499 single base substitution C G upstream_gene_variant PACA-CA 2 225436277 225436277 single base substitution A C intron_variant PACA-CA 2 225436277 225436277 single base substitution A C upstream_gene_variant PACA-CA 2 225440991 225440991 single base substitution G C intron_variant PACA-CA 2 225441690 225441690 single base substitution G A intron_variant PACA-CA 2 225446981 225446981 single base substitution G A intron_variant PACA-CA 2 225448956 225448956 single base substitution G T intron_variant PACA-CA 2 225450234 225450234 single base substitution C A upstream_gene_variant PACA-CA 2 225452122 225452122 single base substitution T A upstream_gene_variant PACA-CA 2 225453121 225453121 single base substitution A C upstream_gene_variant PAEN-AU 2 225398524 225398524 single base substitution T G downstream_gene_variant PAEN-AU 2 225398524 225398524 single base substitution T G intron_variant PAEN-AU 2 225398524 225398524 single base substitution T G upstream_gene_variant PAEN-AU 2 225438494 225438494 deletion of <=200bp T - intron_variant PAEN-AU 2 225438494 225438494 deletion of <=200bp T - upstream_gene_variant PAEN-IT 2 225335462 225335462 single base substitution C G 3_prime_UTR_variant PAEN-IT 2 225335462 225335462 single base substitution C G downstream_gene_variant PAEN-IT 2 225340920 225340920 single base substitution G A downstream_gene_variant PAEN-IT 2 225340920 225340920 single base substitution G A intron_variant PAEN-IT 2 225355600 225355600 single base substitution C T downstream_gene_variant PAEN-IT 2 225355600 225355600 single base substitution C T intron_variant PAEN-IT 2 225356074 225356074 single base substitution T G downstream_gene_variant PAEN-IT 2 225356074 225356074 single base substitution T G intron_variant PAEN-IT 2 225368570 225368570 single base substitution C T downstream_gene_variant PAEN-IT 2 225368570 225368570 single base substitution C T exon_variant PAEN-IT 2 225368570 225368570 single base substitution C T intron_variant PAEN-IT 2 225368570 225368570 single base substitution C T upstream_gene_variant PAEN-IT 2 225383898 225383898 single base substitution T C intron_variant PAEN-IT 2 225407129 225407129 single base substitution A G intron_variant PAEN-IT 2 225414599 225414599 single base substitution A G intron_variant PAEN-IT 2 225424974 225424974 single base substitution T C intron_variant PAEN-IT 2 225424974 225424974 single base substitution T C upstream_gene_variant PBCA-DE 2 225344817 225344819 deletion of <=200bp GGT - exon_variant PBCA-DE 2 225344817 225344819 deletion of <=200bp GGT - intron_variant PBCA-DE 2 225346756 225346756 single base substitution C G exon_variant PBCA-DE 2 225346756 225346756 single base substitution C G intron_variant PBCA-DE 2 225346756 225346756 single base substitution C G missense_variant V562L 1684G>C PBCA-DE 2 225346756 225346756 single base substitution C G missense_variant V604L 1810G>C PBCA-DE 2 225346756 225346756 single base substitution C G missense_variant V628L 1882G>C PBCA-DE 2 225346756 225346756 single base substitution C G upstream_gene_variant PBCA-DE 2 225356389 225356392 deletion of <=200bp ACTA - downstream_gene_variant PBCA-DE 2 225356389 225356392 deletion of <=200bp ACTA - intron_variant PBCA-DE 2 225363251 225363251 insertion of <=200bp - A downstream_gene_variant PBCA-DE 2 225363251 225363251 insertion of <=200bp - A intron_variant PBCA-DE 2 225363251 225363251 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 225369026 225369026 single base substitution A C downstream_gene_variant PBCA-DE 2 225369026 225369026 single base substitution A C exon_variant PBCA-DE 2 225369026 225369026 single base substitution A C intron_variant PBCA-DE 2 225369026 225369026 single base substitution A C upstream_gene_variant PBCA-DE 2 225369053 225369053 single base substitution G A downstream_gene_variant PBCA-DE 2 225369053 225369053 single base substitution G A intron_variant PBCA-DE 2 225369053 225369053 single base substitution G A upstream_gene_variant PBCA-DE 2 225378930 225378930 single base substitution A G downstream_gene_variant PBCA-DE 2 225378930 225378930 single base substitution A G intron_variant PBCA-DE 2 225378930 225378930 single base substitution A G upstream_gene_variant PBCA-DE 2 225394559 225394559 single base substitution G A intron_variant PBCA-DE 2 225401514 225401514 single base substitution T C intron_variant PBCA-DE 2 225401514 225401514 single base substitution T C upstream_gene_variant PBCA-DE 2 225423577 225423577 insertion of <=200bp - GTGAAACCCC intron_variant PBCA-DE 2 225423577 225423577 insertion of <=200bp - GTGAAACCCC upstream_gene_variant PBCA-DE 2 225435004 225435004 insertion of <=200bp - A intron_variant PBCA-DE 2 225435004 225435004 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 225435062 225435062 single base substitution C T intron_variant PBCA-DE 2 225435062 225435062 single base substitution C T upstream_gene_variant PBCA-DE 2 225443150 225443152 deletion of <=200bp TGT - intron_variant PRAD-CA 2 225355520 225355520 single base substitution C G downstream_gene_variant PRAD-CA 2 225355520 225355520 single base substitution C G intron_variant PRAD-CA 2 225371708 225371708 single base substitution A C downstream_gene_variant PRAD-CA 2 225371708 225371708 single base substitution A C exon_variant PRAD-CA 2 225371708 225371708 single base substitution A C missense_variant M233R 698T>G PRAD-CA 2 225371708 225371708 single base substitution A C missense_variant M275R 824T>G PRAD-CA 2 225371708 225371708 single base substitution A C missense_variant M299R 896T>G PRAD-CA 2 225371708 225371708 single base substitution A C upstream_gene_variant PRAD-CA 2 225383139 225383139 single base substitution G A intron_variant PRAD-CA 2 225385410 225385410 single base substitution T G intron_variant PRAD-CA 2 225430980 225430980 single base substitution C T intron_variant PRAD-CA 2 225430980 225430980 single base substitution C T upstream_gene_variant PRAD-CA 2 225446771 225446771 single base substitution T C intron_variant PRAD-UK 2 225334849 225334849 single base substitution T C downstream_gene_variant PRAD-UK 2 225336268 225336268 single base substitution T G 3_prime_UTR_variant PRAD-UK 2 225336268 225336268 single base substitution T G downstream_gene_variant PRAD-UK 2 225352801 225352801 single base substitution A C intron_variant PRAD-UK 2 225352801 225352801 single base substitution A C upstream_gene_variant PRAD-UK 2 225365339 225365339 deletion of <=200bp C - downstream_gene_variant PRAD-UK 2 225365339 225365339 deletion of <=200bp C - intron_variant PRAD-UK 2 225365339 225365339 deletion of <=200bp C - upstream_gene_variant PRAD-UK 2 225370990 225370990 single base substitution T C intron_variant PRAD-UK 2 225370990 225370990 single base substitution T C upstream_gene_variant PRAD-UK 2 225371708 225371708 single base substitution A C downstream_gene_variant PRAD-UK 2 225371708 225371708 single base substitution A C exon_variant PRAD-UK 2 225371708 225371708 single base substitution A C missense_variant M233R 698T>G PRAD-UK 2 225371708 225371708 single base substitution A C missense_variant M275R 824T>G PRAD-UK 2 225371708 225371708 single base substitution A C missense_variant M299R 896T>G PRAD-UK 2 225371708 225371708 single base substitution A C upstream_gene_variant PRAD-UK 2 225378825 225378825 insertion of <=200bp - A downstream_gene_variant PRAD-UK 2 225378825 225378825 insertion of <=200bp - A intron_variant PRAD-UK 2 225378825 225378825 insertion of <=200bp - A upstream_gene_variant PRAD-UK 2 225378963 225378963 single base substitution T C downstream_gene_variant PRAD-UK 2 225378963 225378963 single base substitution T C intron_variant PRAD-UK 2 225378963 225378963 single base substitution T C upstream_gene_variant PRAD-UK 2 225385785 225385785 single base substitution A C intron_variant PRAD-UK 2 225411658 225411658 single base substitution G C intron_variant PRAD-UK 2 225418926 225418928 deletion of <=200bp TCT - intron_variant PRAD-UK 2 225421326 225421326 single base substitution A G intron_variant PRAD-UK 2 225423951 225423951 single base substitution G C intron_variant PRAD-UK 2 225423951 225423951 single base substitution G C upstream_gene_variant PRAD-UK 2 225433692 225433692 single base substitution A T intron_variant PRAD-UK 2 225443436 225443436 insertion of <=200bp - A intron_variant PRAD-UK 2 225450484 225450484 single base substitution C A upstream_gene_variant PRAD-US 2 225362501 225362501 single base substitution A C exon_variant PRAD-US 2 225362501 225362501 single base substitution A C missense_variant L12R 35T>G PRAD-US 2 225362501 225362501 single base substitution A C missense_variant L493R 1478T>G PRAD-US 2 225362501 225362501 single base substitution A C missense_variant L535R 1604T>G PRAD-US 2 225362501 225362501 single base substitution A C missense_variant L559R 1676T>G PRAD-US 2 225362501 225362501 single base substitution A C upstream_gene_variant PRAD-US 2 225370686 225370686 single base substitution T C exon_variant PRAD-US 2 225370686 225370686 single base substitution T C missense_variant K332R 995A>G PRAD-US 2 225370686 225370686 single base substitution T C missense_variant K374R 1121A>G PRAD-US 2 225370686 225370686 single base substitution T C missense_variant K398R 1193A>G PRAD-US 2 225370686 225370686 single base substitution T C upstream_gene_variant PRAD-US 2 225379456 225379456 single base substitution T C exon_variant PRAD-US 2 225379456 225379456 single base substitution T C missense_variant N114D 340A>G PRAD-US 2 225379456 225379456 single base substitution T C missense_variant N138D 412A>G PRAD-US 2 225379456 225379456 single base substitution T C missense_variant N158D 472A>G PRAD-US 2 225379456 225379456 single base substitution T C missense_variant N72D 214A>G PRAD-US 2 225379456 225379456 single base substitution T C upstream_gene_variant RECA-EU 2 225330502 225330502 single base substitution A C downstream_gene_variant RECA-EU 2 225331777 225331777 single base substitution G A downstream_gene_variant RECA-EU 2 225331778 225331778 single base substitution A T downstream_gene_variant RECA-EU 2 225334947 225334947 single base substitution T A 3_prime_UTR_variant RECA-EU 2 225334947 225334947 single base substitution T A downstream_gene_variant RECA-EU 2 225339955 225339955 single base substitution C A downstream_gene_variant RECA-EU 2 225339955 225339955 single base substitution C A intron_variant RECA-EU 2 225344214 225344214 single base substitution A T exon_variant RECA-EU 2 225344214 225344214 single base substitution A T intron_variant RECA-EU 2 225356059 225356059 single base substitution G A downstream_gene_variant RECA-EU 2 225356059 225356059 single base substitution G A intron_variant RECA-EU 2 225362033 225362033 single base substitution A C intron_variant RECA-EU 2 225362033 225362033 single base substitution A C upstream_gene_variant RECA-EU 2 225365616 225365616 single base substitution T A downstream_gene_variant RECA-EU 2 225365616 225365616 single base substitution T A intron_variant RECA-EU 2 225365616 225365616 single base substitution T A upstream_gene_variant RECA-EU 2 225384513 225384513 single base substitution T A intron_variant RECA-EU 2 225392677 225392677 single base substitution C T intron_variant RECA-EU 2 225393708 225393708 single base substitution G A intron_variant RECA-EU 2 225395776 225395776 single base substitution C G downstream_gene_variant RECA-EU 2 225395776 225395776 single base substitution C G intron_variant RECA-EU 2 225403869 225403869 single base substitution C A intron_variant RECA-EU 2 225422395 225422395 single base substitution G C exon_variant RECA-EU 2 225422395 225422395 single base substitution G C intron_variant RECA-EU 2 225422395 225422395 single base substitution G C missense_variant T102S 305C>G RECA-EU 2 225422395 225422395 single base substitution G C missense_variant T58S 173C>G RECA-EU 2 225422395 225422395 single base substitution G C missense_variant T82S 245C>G RECA-EU 2 225442695 225442695 single base substitution C T intron_variant SKCA-BR 2 225330238 225330238 single base substitution C T downstream_gene_variant SKCA-BR 2 225330879 225330879 single base substitution A T downstream_gene_variant SKCA-BR 2 225334373 225334376 deletion of <=200bp TACA - downstream_gene_variant SKCA-BR 2 225334384 225334388 deletion of <=200bp CAACA - downstream_gene_variant SKCA-BR 2 225334384 225334389 deletion of <=200bp CAACAA - downstream_gene_variant SKCA-BR 2 225334387 225334387 single base substitution C A downstream_gene_variant SKCA-BR 2 225335866 225335866 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 225335866 225335866 single base substitution C T downstream_gene_variant SKCA-BR 2 225340650 225340650 single base substitution G A downstream_gene_variant SKCA-BR 2 225340650 225340650 single base substitution G A intron_variant SKCA-BR 2 225342812 225342812 single base substitution G A downstream_gene_variant SKCA-BR 2 225342812 225342812 single base substitution G A intron_variant SKCA-BR 2 225345498 225345498 single base substitution A G intron_variant SKCA-BR 2 225345498 225345498 single base substitution A G upstream_gene_variant SKCA-BR 2 225351017 225351017 single base substitution G T intron_variant SKCA-BR 2 225351017 225351017 single base substitution G T upstream_gene_variant SKCA-BR 2 225351846 225351846 single base substitution G A intron_variant SKCA-BR 2 225351846 225351846 single base substitution G A upstream_gene_variant SKCA-BR 2 225353139 225353139 single base substitution G A intron_variant SKCA-BR 2 225353139 225353139 single base substitution G A upstream_gene_variant SKCA-BR 2 225354273 225354273 single base substitution G A intron_variant SKCA-BR 2 225354273 225354273 single base substitution G A upstream_gene_variant SKCA-BR 2 225354648 225354648 single base substitution G A intron_variant SKCA-BR 2 225354648 225354648 single base substitution G A upstream_gene_variant SKCA-BR 2 225356778 225356778 single base substitution T G downstream_gene_variant SKCA-BR 2 225356778 225356778 single base substitution T G intron_variant SKCA-BR 2 225363306 225363306 single base substitution G A downstream_gene_variant SKCA-BR 2 225363306 225363306 single base substitution G A intron_variant SKCA-BR 2 225363306 225363306 single base substitution G A upstream_gene_variant SKCA-BR 2 225369628 225369628 single base substitution A C downstream_gene_variant SKCA-BR 2 225369628 225369628 single base substitution A C intron_variant SKCA-BR 2 225369628 225369628 single base substitution A C upstream_gene_variant SKCA-BR 2 225373493 225373493 single base substitution G A downstream_gene_variant SKCA-BR 2 225373493 225373493 single base substitution G A intron_variant SKCA-BR 2 225373493 225373493 single base substitution G A upstream_gene_variant SKCA-BR 2 225374937 225374937 single base substitution T G downstream_gene_variant SKCA-BR 2 225374937 225374937 single base substitution T G intron_variant SKCA-BR 2 225377541 225377541 single base substitution A T downstream_gene_variant SKCA-BR 2 225377541 225377541 single base substitution A T intron_variant SKCA-BR 2 225377541 225377541 single base substitution A T upstream_gene_variant SKCA-BR 2 225378272 225378272 single base substitution G A downstream_gene_variant SKCA-BR 2 225378272 225378272 single base substitution G A exon_variant SKCA-BR 2 225378272 225378272 single base substitution G A missense_variant P142L 425C>T SKCA-BR 2 225378272 225378272 single base substitution G A missense_variant P184L 551C>T SKCA-BR 2 225378272 225378272 single base substitution G A missense_variant P208L 623C>T SKCA-BR 2 225378272 225378272 single base substitution G A upstream_gene_variant SKCA-BR 2 225380069 225380069 single base substitution A T intron_variant SKCA-BR 2 225380069 225380069 single base substitution A T upstream_gene_variant SKCA-BR 2 225381450 225381450 single base substitution A C intron_variant SKCA-BR 2 225386340 225386340 single base substitution G T intron_variant SKCA-BR 2 225390777 225390777 single base substitution C A intron_variant SKCA-BR 2 225391296 225391296 single base substitution C A intron_variant SKCA-BR 2 225391329 225391329 single base substitution G A intron_variant SKCA-BR 2 225391334 225391334 single base substitution G A intron_variant SKCA-BR 2 225392672 225392672 single base substitution A G intron_variant SKCA-BR 2 225394178 225394179 deletion of <=200bp CA - intron_variant SKCA-BR 2 225394218 225394218 single base substitution T C intron_variant SKCA-BR 2 225402006 225402006 single base substitution G A intron_variant SKCA-BR 2 225402006 225402006 single base substitution G A upstream_gene_variant SKCA-BR 2 225407236 225407236 single base substitution G A intron_variant SKCA-BR 2 225408867 225408867 single base substitution T G intron_variant SKCA-BR 2 225408927 225408927 single base substitution G A intron_variant SKCA-BR 2 225409824 225409824 single base substitution A C intron_variant SKCA-BR 2 225411383 225411383 insertion of <=200bp - AC intron_variant SKCA-BR 2 225416209 225416209 single base substitution A C intron_variant SKCA-BR 2 225418142 225418142 single base substitution A C intron_variant SKCA-BR 2 225419290 225419290 single base substitution G A intron_variant SKCA-BR 2 225420907 225420907 single base substitution G A intron_variant SKCA-BR 2 225422600 225422600 single base substitution C A intron_variant SKCA-BR 2 225422600 225422600 single base substitution C A upstream_gene_variant SKCA-BR 2 225422855 225422855 single base substitution G A intron_variant SKCA-BR 2 225422855 225422855 single base substitution G A upstream_gene_variant SKCA-BR 2 225423581 225423601 deletion of <=200bp CTACTAAATATACAAAAAATA - intron_variant SKCA-BR 2 225423581 225423601 deletion of <=200bp CTACTAAATATACAAAAAATA - upstream_gene_variant SKCA-BR 2 225423600 225423600 single base substitution T A intron_variant SKCA-BR 2 225423600 225423600 single base substitution T A upstream_gene_variant SKCA-BR 2 225426159 225426159 single base substitution G A intron_variant SKCA-BR 2 225426159 225426159 single base substitution G A upstream_gene_variant SKCA-BR 2 225427311 225427311 single base substitution C T intron_variant SKCA-BR 2 225427311 225427311 single base substitution C T upstream_gene_variant SKCA-BR 2 225427425 225427425 single base substitution A T 5_prime_UTR_variant SKCA-BR 2 225427425 225427425 single base substitution A T intron_variant SKCA-BR 2 225427425 225427425 single base substitution A T upstream_gene_variant SKCA-BR 2 225429552 225429552 single base substitution A G intron_variant SKCA-BR 2 225429552 225429552 single base substitution A G upstream_gene_variant SKCA-BR 2 225434673 225434674 deletion of <=200bp CA - intron_variant SKCA-BR 2 225434673 225434674 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 2 225437408 225437408 single base substitution A T intron_variant SKCA-BR 2 225437408 225437408 single base substitution A T upstream_gene_variant SKCA-BR 2 225437409 225437409 single base substitution A C intron_variant SKCA-BR 2 225437409 225437409 single base substitution A C upstream_gene_variant SKCA-BR 2 225437430 225437430 single base substitution T G intron_variant SKCA-BR 2 225437430 225437430 single base substitution T G upstream_gene_variant SKCA-BR 2 225443237 225443237 single base substitution G A intron_variant SKCA-BR 2 225444784 225444784 single base substitution G A intron_variant SKCA-BR 2 225448997 225448997 insertion of <=200bp - TC intron_variant SKCA-BR 2 225450368 225450368 single base substitution G C upstream_gene_variant SKCA-BR 2 225450499 225450499 single base substitution T G upstream_gene_variant SKCA-BR 2 225451756 225451756 single base substitution T C upstream_gene_variant SKCM-US 2 225346638 225346638 single base substitution G A exon_variant SKCM-US 2 225346638 225346638 single base substitution G A intron_variant SKCM-US 2 225346638 225346638 single base substitution G A missense_variant S601F 1802C>T SKCM-US 2 225346638 225346638 single base substitution G A missense_variant S643F 1928C>T SKCM-US 2 225346638 225346638 single base substitution G A missense_variant S667F 2000C>T SKCM-US 2 225346638 225346638 single base substitution G A upstream_gene_variant SKCM-US 2 225360606 225360606 single base substitution G A exon_variant SKCM-US 2 225360606 225360606 single base substitution G A synonymous_variant S48S 144C>T SKCM-US 2 225360606 225360606 single base substitution G A synonymous_variant S529S 1587C>T SKCM-US 2 225360606 225360606 single base substitution G A synonymous_variant S571S 1713C>T SKCM-US 2 225360606 225360606 single base substitution G A synonymous_variant S595S 1785C>T SKCM-US 2 225360656 225360656 single base substitution C T exon_variant SKCM-US 2 225360656 225360656 single base substitution C T missense_variant G32S 94G>A SKCM-US 2 225360656 225360656 single base substitution C T missense_variant G513S 1537G>A SKCM-US 2 225360656 225360656 single base substitution C T missense_variant G555S 1663G>A SKCM-US 2 225360656 225360656 single base substitution C T missense_variant G579S 1735G>A SKCM-US 2 225360656 225360656 single base substitution C T upstream_gene_variant SKCM-US 2 225365136 225365136 single base substitution G A downstream_gene_variant SKCM-US 2 225365136 225365136 single base substitution G A synonymous_variant A452A 1356C>T SKCM-US 2 225365136 225365136 single base substitution G A synonymous_variant A494A 1482C>T SKCM-US 2 225365136 225365136 single base substitution G A synonymous_variant A518A 1554C>T SKCM-US 2 225365136 225365136 single base substitution G A upstream_gene_variant SKCM-US 2 225367750 225367750 single base substitution T A downstream_gene_variant SKCM-US 2 225367750 225367750 single base substitution T A exon_variant SKCM-US 2 225367750 225367750 single base substitution T A missense_variant M407L 1219A>T SKCM-US 2 225367750 225367750 single base substitution T A missense_variant M449L 1345A>T SKCM-US 2 225367750 225367750 single base substitution T A missense_variant M473L 1417A>T SKCM-US 2 225367750 225367750 single base substitution T A upstream_gene_variant SKCM-US 2 225370813 225370813 single base substitution G A exon_variant SKCM-US 2 225370813 225370813 single base substitution G A missense_variant L290F 868C>T SKCM-US 2 225370813 225370813 single base substitution G A missense_variant L332F 994C>T SKCM-US 2 225370813 225370813 single base substitution G A missense_variant L356F 1066C>T SKCM-US 2 225370813 225370813 single base substitution G A upstream_gene_variant SKCM-US 2 225378270 225378270 single base substitution A T downstream_gene_variant SKCM-US 2 225378270 225378270 single base substitution A T exon_variant SKCM-US 2 225378270 225378270 single base substitution A T missense_variant F143I 427T>A SKCM-US 2 225378270 225378270 single base substitution A T missense_variant F185I 553T>A SKCM-US 2 225378270 225378270 single base substitution A T missense_variant F209I 625T>A SKCM-US 2 225378270 225378270 single base substitution A T upstream_gene_variant SKCM-US 2 225378273 225378273 single base substitution G A downstream_gene_variant SKCM-US 2 225378273 225378273 single base substitution G A exon_variant SKCM-US 2 225378273 225378273 single base substitution G A missense_variant P142S 424C>T SKCM-US 2 225378273 225378273 single base substitution G A missense_variant P184S 550C>T SKCM-US 2 225378273 225378273 single base substitution G A missense_variant P208S 622C>T SKCM-US 2 225378273 225378273 single base substitution G A upstream_gene_variant SKCM-US 2 225422555 225422555 single base substitution A G exon_variant SKCM-US 2 225422555 225422555 single base substitution A G intron_variant SKCM-US 2 225422555 225422555 single base substitution A G missense_variant Y29H 85T>C SKCM-US 2 225422555 225422555 single base substitution A G missense_variant Y49H 145T>C SKCM-US 2 225422555 225422555 single base substitution A G missense_variant Y5H 13T>C SKCM-US 2 225422555 225422555 single base substitution A G upstream_gene_variant STAD-US 2 225360635 225360635 single base substitution T C exon_variant STAD-US 2 225360635 225360635 single base substitution T C missense_variant N39D 115A>G STAD-US 2 225360635 225360635 single base substitution T C missense_variant N520D 1558A>G STAD-US 2 225360635 225360635 single base substitution T C missense_variant N562D 1684A>G STAD-US 2 225360635 225360635 single base substitution T C missense_variant N586D 1756A>G STAD-US 2 225360635 225360635 single base substitution T C upstream_gene_variant STAD-US 2 225367719 225367719 single base substitution G A downstream_gene_variant STAD-US 2 225367719 225367719 single base substitution G A exon_variant STAD-US 2 225367719 225367719 single base substitution G A missense_variant T417M 1250C>T STAD-US 2 225367719 225367719 single base substitution G A missense_variant T459M 1376C>T STAD-US 2 225367719 225367719 single base substitution G A missense_variant T483M 1448C>T STAD-US 2 225367719 225367719 single base substitution G A upstream_gene_variant STAD-US 2 225368388 225368388 insertion of <=200bp - T downstream_gene_variant STAD-US 2 225368388 225368388 insertion of <=200bp - T exon_variant STAD-US 2 225368388 225368388 insertion of <=200bp - T frameshift_variant N387K? STAD-US 2 225368388 225368388 insertion of <=200bp - T frameshift_variant N429K? STAD-US 2 225368388 225368388 insertion of <=200bp - T frameshift_variant N453K? STAD-US 2 225368388 225368388 insertion of <=200bp - T upstream_gene_variant STAD-US 2 225376167 225376167 single base substitution C T downstream_gene_variant STAD-US 2 225376167 225376167 single base substitution C T exon_variant STAD-US 2 225376167 225376167 single base substitution C T missense_variant V197M 589G>A STAD-US 2 225376167 225376167 single base substitution C T missense_variant V239M 715G>A STAD-US 2 225376167 225376167 single base substitution C T missense_variant V263M 787G>A STAD-US 2 225376167 225376167 single base substitution C T upstream_gene_variant STAD-US 2 225376238 225376238 single base substitution G A downstream_gene_variant STAD-US 2 225376238 225376238 single base substitution G A exon_variant STAD-US 2 225376238 225376238 single base substitution G A missense_variant A173V 518C>T STAD-US 2 225376238 225376238 single base substitution G A missense_variant A215V 644C>T STAD-US 2 225376238 225376238 single base substitution G A missense_variant A239V 716C>T STAD-US 2 225376238 225376238 single base substitution G A upstream_gene_variant STAD-US 2 225378310 225378310 single base substitution G A downstream_gene_variant STAD-US 2 225378310 225378310 single base substitution G A exon_variant STAD-US 2 225378310 225378310 single base substitution G A synonymous_variant L129L 387C>T STAD-US 2 225378310 225378310 single base substitution G A synonymous_variant L171L 513C>T STAD-US 2 225378310 225378310 single base substitution G A synonymous_variant L195L 585C>T STAD-US 2 225378310 225378310 single base substitution G A upstream_gene_variant STAD-US 2 225400346 225400346 single base substitution C T exon_variant STAD-US 2 225400346 225400346 single base substitution C T missense_variant V113I 337G>A STAD-US 2 225400346 225400346 single base substitution C T missense_variant V27I 79G>A STAD-US 2 225400346 225400346 single base substitution C T missense_variant V69I 205G>A STAD-US 2 225400346 225400346 single base substitution C T missense_variant V93I 277G>A STAD-US 2 225400346 225400346 single base substitution C T upstream_gene_variant THCA-SA 2 225334971 225334971 single base substitution T C 3_prime_UTR_variant THCA-SA 2 225334971 225334971 single base substitution T C downstream_gene_variant THCA-SA 2 225335935 225335935 single base substitution G C 3_prime_UTR_variant THCA-SA 2 225335935 225335935 single base substitution G C downstream_gene_variant THCA-US 2 225362566 225362566 single base substitution C A missense_variant R471S 1413G>T THCA-US 2 225362566 225362566 single base substitution C A missense_variant R513S 1539G>T THCA-US 2 225362566 225362566 single base substitution C A missense_variant R537S 1611G>T THCA-US 2 225362566 225362566 single base substitution C A splice_region_variant THCA-US 2 225362566 225362566 single base substitution C A upstream_gene_variant UCEC-US 2 225338991 225338991 single base substitution C T 3_prime_UTR_variant UCEC-US 2 225338991 225338991 single base substitution C T downstream_gene_variant UCEC-US 2 225338991 225338991 single base substitution C T exon_variant UCEC-US 2 225338991 225338991 single base substitution C T missense_variant D102N 304G>A UCEC-US 2 225338991 225338991 single base substitution C T missense_variant D694N 2080G>A UCEC-US 2 225338991 225338991 single base substitution C T missense_variant D736N 2206G>A UCEC-US 2 225338991 225338991 single base substitution C T missense_variant D760N 2278G>A UCEC-US 2 225346644 225346644 single base substitution A T exon_variant UCEC-US 2 225346644 225346644 single base substitution A T intron_variant UCEC-US 2 225346644 225346644 single base substitution A T missense_variant F599Y 1796T>A UCEC-US 2 225346644 225346644 single base substitution A T missense_variant F641Y 1922T>A UCEC-US 2 225346644 225346644 single base substitution A T missense_variant F665Y 1994T>A UCEC-US 2 225346644 225346644 single base substitution A T upstream_gene_variant UCEC-US 2 225360625 225360625 single base substitution T G exon_variant UCEC-US 2 225360625 225360625 single base substitution T G missense_variant K42T 125A>C UCEC-US 2 225360625 225360625 single base substitution T G missense_variant K523T 1568A>C UCEC-US 2 225360625 225360625 single base substitution T G missense_variant K565T 1694A>C UCEC-US 2 225360625 225360625 single base substitution T G missense_variant K589T 1766A>C UCEC-US 2 225360625 225360625 single base substitution T G upstream_gene_variant UCEC-US 2 225368527 225368527 single base substitution C A downstream_gene_variant UCEC-US 2 225368527 225368527 single base substitution C A exon_variant UCEC-US 2 225368527 225368527 single base substitution C A stop_gained E341* 1021G>T UCEC-US 2 225368527 225368527 single base substitution C A stop_gained E383* 1147G>T UCEC-US 2 225368527 225368527 single base substitution C A stop_gained E407* 1219G>T UCEC-US 2 225368527 225368527 single base substitution C A upstream_gene_variant UCEC-US 2 225370832 225370832 single base substitution C A exon_variant UCEC-US 2 225370832 225370832 single base substitution C A missense_variant K283N 849G>T UCEC-US 2 225370832 225370832 single base substitution C A missense_variant K325N 975G>T UCEC-US 2 225370832 225370832 single base substitution C A missense_variant K349N 1047G>T UCEC-US 2 225370832 225370832 single base substitution C A upstream_gene_variant UCEC-US 2 225371718 225371718 single base substitution G T downstream_gene_variant UCEC-US 2 225371718 225371718 single base substitution G T missense_variant L230I 688C>A UCEC-US 2 225371718 225371718 single base substitution G T missense_variant L272I 814C>A UCEC-US 2 225371718 225371718 single base substitution G T missense_variant L296I 886C>A UCEC-US 2 225371718 225371718 single base substitution G T splice_region_variant UCEC-US 2 225371718 225371718 single base substitution G T upstream_gene_variant UCEC-US 2 225376109 225376109 single base substitution G T downstream_gene_variant UCEC-US 2 225376109 225376109 single base substitution G T exon_variant UCEC-US 2 225376109 225376109 single base substitution G T missense_variant S216Y 647C>A UCEC-US 2 225376109 225376109 single base substitution G T missense_variant S258Y 773C>A UCEC-US 2 225376109 225376109 single base substitution G T missense_variant S282Y 845C>A UCEC-US 2 225376111 225376111 single base substitution A G downstream_gene_variant UCEC-US 2 225376111 225376111 single base substitution A G exon_variant UCEC-US 2 225376111 225376111 single base substitution A G synonymous_variant N215N 645T>C UCEC-US 2 225376111 225376111 single base substitution A G synonymous_variant N257N 771T>C UCEC-US 2 225376111 225376111 single base substitution A G synonymous_variant N281N 843T>C UCEC-US 2 225376286 225376286 single base substitution T G downstream_gene_variant UCEC-US 2 225376286 225376286 single base substitution T G exon_variant UCEC-US 2 225376286 225376286 single base substitution T G missense_variant K157T 470A>C UCEC-US 2 225376286 225376286 single base substitution T G missense_variant K199T 596A>C UCEC-US 2 225376286 225376286 single base substitution T G missense_variant K223T 668A>C UCEC-US 2 225376286 225376286 single base substitution T G upstream_gene_variant UCEC-US 2 225378246 225378246 single base substitution A C downstream_gene_variant UCEC-US 2 225378246 225378246 single base substitution A C exon_variant UCEC-US 2 225378246 225378246 single base substitution A C missense_variant F151V 451T>G UCEC-US 2 225378246 225378246 single base substitution A C missense_variant F193V 577T>G UCEC-US 2 225378246 225378246 single base substitution A C missense_variant F217V 649T>G UCEC-US 2 225378246 225378246 single base substitution A C upstream_gene_variant UCEC-US 2 225378309 225378309 single base substitution C T downstream_gene_variant UCEC-US 2 225378309 225378309 single base substitution C T exon_variant UCEC-US 2 225378309 225378309 single base substitution C T missense_variant E130K 388G>A UCEC-US 2 225378309 225378309 single base substitution C T missense_variant E172K 514G>A UCEC-US 2 225378309 225378309 single base substitution C T missense_variant E196K 586G>A UCEC-US 2 225378309 225378309 single base substitution C T upstream_gene_variant UCEC-US 2 225379337 225379337 single base substitution G A downstream_gene_variant UCEC-US 2 225379337 225379337 single base substitution G A exon_variant UCEC-US 2 225379337 225379337 single base substitution G A synonymous_variant V111V 333C>T UCEC-US 2 225379337 225379337 single base substitution G A synonymous_variant V153V 459C>T UCEC-US 2 225379337 225379337 single base substitution G A synonymous_variant V177V 531C>T UCEC-US 2 225379337 225379337 single base substitution G A upstream_gene_variant UCEC-US 2 225400354 225400354 single base substitution C T exon_variant UCEC-US 2 225400354 225400354 single base substitution C T missense_variant R110Q 329G>A UCEC-US 2 225400354 225400354 single base substitution C T missense_variant R24Q 71G>A UCEC-US 2 225400354 225400354 single base substitution C T missense_variant R66Q 197G>A UCEC-US 2 225400354 225400354 single base substitution C T missense_variant R90Q 269G>A UCEC-US 2 225400354 225400354 single base substitution C T upstream_gene_variant UCEC-US 2 225422405 225422405 single base substitution C A exon_variant UCEC-US 2 225422405 225422405 single base substitution C A intron_variant UCEC-US 2 225422405 225422405 single base substitution C A stop_gained E55* 163G>T UCEC-US 2 225422405 225422405 single base substitution C A stop_gained E79* 235G>T UCEC-US 2 225422405 225422405 single base substitution C A stop_gained E99* 295G>T UCEC-US 2 225422409 225422409 single base substitution T G exon_variant UCEC-US 2 225422409 225422409 single base substitution T G intron_variant UCEC-US 2 225422409 225422409 single base substitution T G synonymous_variant L53L 159A>C UCEC-US 2 225422409 225422409 single base substitution T G synonymous_variant L77L 231A>C UCEC-US 2 225422409 225422409 single base substitution T G synonymous_variant L97L 291A>C UCEC-US 2 225422491 225422491 single base substitution C T exon_variant UCEC-US 2 225422491 225422491 single base substitution C T intron_variant UCEC-US 2 225422491 225422491 single base substitution C T missense_variant S26N 77G>A UCEC-US 2 225422491 225422491 single base substitution C T missense_variant S50N 149G>A UCEC-US 2 225422491 225422491 single base substitution C T missense_variant S70N 209G>A UCEC-US 2 225422549 225422549 single base substitution T G exon_variant UCEC-US 2 225422549 225422549 single base substitution T G intron_variant UCEC-US 2 225422549 225422549 single base substitution T G missense_variant N31H 91A>C UCEC-US 2 225422549 225422549 single base substitution T G missense_variant N51H 151A>C UCEC-US 2 225422549 225422549 single base substitution T G missense_variant N7H 19A>C UCEC-US 2 225422549 225422549 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AX-A0J0-01 COSM1017123 c.235G>T p.E79* Substitution - Nonsense 2:224557688-224557688 - T613 COSM4675562 c.1138C>A p.L380I Substitution - Missense 2:224506024-224506024 - HN33PT COSM98214 c.2126G>A p.R709Q Substitution - Missense 2:224478249-224478249 - TCGA-34-5928-01 COSM720510 c.159T>G p.S53R Substitution - Missense 2:224557764-224557764 - TCGA-AX-A0J0-01 COSM1017110 c.1766A>C p.K589T Substitution - Missense 2:224495908-224495908 - TCGA-ER-A19A-06 COSM3578282 c.1066C>T p.L356F Substitution - Missense 2:224506096-224506096 - ESCC_46 COSM4983082 c.1378-1G>C p.? Unknown 2:224503073-224503073 - TCGA-39-5016-01 COSM720518 c.2029G>T p.V677F Substitution - Missense 2:224481892-224481892 - T3094 COSM4675565 c.48G>A p.M16I Substitution - Missense 2:224584962-224584962 - TCGA-F4-6460-01 COSM1405862 c.2164C>G p.L722V Substitution - Missense 2:224478211-224478211 - T142 COSM307414 c.184T>C p.Y62H Substitution - Missense 2:224557739-224557739 - TCGA-IR-A3LH-01 COSM4832766 c.1599G>A p.E533E Substitution - coding silent 2:224500374-224500374 - 587298 COSM1202684 c.433A>C p.I145L Substitution - Missense 2:224514718-224514718 - 0051_CRUK_PC_0051_T1_DNA COSM220022 c.896T>G p.M299R Substitution - Missense 2:224506991-224506991 - PCSI_0137_Pa_X COSM3380064 c.1843-5T>G p.? Unknown 2:224482083-224482083 - TCGA-C8-A1HE-01 COSM1482807 c.1644C>T p.L548L Substitution - coding silent 2:224497816-224497816 - TCGA-B5-A0JV-01 COSM1017127 c.76G>T p.D26Y Substitution - Missense 2:224557847-224557847 - ESO-913 COSM1249458 c.241G>A p.V81I Substitution - Missense 2:224557682-224557682 - S02342 COSM5692746 c.2248G>T p.E750* Substitution - Nonsense 2:224474304-224474304 - 3N60-VS-3T60 COSM4984321 c.1636C>T p.R546* Substitution - Nonsense 2:224497824-224497824 - TCGA-BH-A0B6-01 COSM3838732 c.1855G>C p.E619Q Substitution - Missense 2:224482066-224482066 - TCGA-DV-5574-01 COSM3364605 c.142A>T p.N48Y Substitution - Missense 2:224557781-224557781 - sysucc-311T COSM5465437 c.1056C>T p.F352F Substitution - coding silent 2:224506106-224506106 - PR-3027 COSM220022 c.896T>G p.M299R Substitution - Missense 2:224506991-224506991 - PT44 COSM5926337 c.442C>T p.R148* Substitution - Nonsense 2:224514709-224514709 - RK308_C01 COSM3743622 c.1263T>A p.F421L Substitution - Missense 2:224503766-224503766 - TCGA-G4-6588-01 COSM1405869 c.150T>C p.S50S Substitution - coding silent 2:224557773-224557773 - TCGA-D1-A17B-01 COSM1017111 c.1739C>T p.A580V Substitution - Missense 2:224495935-224495935 - TCGA-QU-A6IL-01 COSM4393747 c.1676T>G p.L559R Substitution - Missense 2:224497784-224497784 - BD72T COSM5513938 c.1357_1358insA p.N453fs*5 Insertion - Frameshift 2:224503671-224503672 - TCGA-D9-A6EC-06 COSM4402214 c.625T>A p.F209I Substitution - Missense 2:224513553-224513553 - 8035555 COSM3391523 c.504G>A p.M168I Substitution - Missense 2:224514647-224514647 - TCGA-B5-A11E-01 COSM1017114 c.1047G>T p.K349N Substitution - Missense 2:224506115-224506115 - TCGA-BR-8680-01 COSM4091970 c.585C>T p.L195L Substitution - coding silent 2:224513593-224513593 - TCGA-CM-6162-01 COSM1405867 c.458G>A p.R153H Substitution - Missense 2:224514693-224514693 - BD241T COSM3046506 c.1924C>T p.R642W Substitution - Missense 2:224481997-224481997 - TCGA-CG-4442-01 COSM4091966 c.1756A>G p.N586D Substitution - Missense 2:224495918-224495918 - TCGA-D1-A103-01 COSM1017126 c.91A>C p.N31H Substitution - Missense 2:224557832-224557832 - BCM617T COSM4955893 c.2267G>T p.R756L Substitution - Missense 2:224474285-224474285 - 478 COSM4438959 c.1843-4delT p.? Unknown 2:224482082-224482082 - TCGA-AO-A03M-01 COSM3838734 c.600C>T p.V200V Substitution - coding silent 2:224513578-224513578 - CSCC-30-T COSM4502295 c.60C>T p.A20A Substitution - coding silent 2:224584950-224584950 - TCGA-60-2698-01 COSM720515 c.963G>C p.L321F Substitution - Missense 2:224506924-224506924 - TCGA-DM-A28F-01 COSM1405863 c.2068G>T p.E690* Substitution - Nonsense 2:224478307-224478307 - LUAD-CHTN-Z4716A COSM362099 c.2248G>A p.E750K Substitution - Missense 2:224474304-224474304 - SH-0622 COSM5017315 c.104_105insC p.L36fs*12 Insertion - Frameshift 2:224557818-224557819 - SM-4B295 COSM5037291 c.846T>C p.S282S Substitution - coding silent 2:224511391-224511391 - ESCC_123 COSM5640912 c.923A>G p.N308S Substitution - Missense 2:224506964-224506964 - ESCC_115 COSM139436 c.2197C>T p.R733* Substitution - Nonsense 2:224474355-224474355 - TCGA-39-5021-01 COSM720513 c.727G>A p.E243K Substitution - Missense 2:224511510-224511510 - pfg019T COSM1641851 c.1637G>A p.R546Q Substitution - Missense 2:224497823-224497823 - ESCC_54 COSM5631499 c.1474C>A p.Q492K Substitution - Missense 2:224502976-224502976 - PD2207a COSM26014 c.608A>T p.E203V Substitution - Missense 2:224513570-224513570 - PD11367a COSM5794343 c.2258A>T p.Y753F Substitution - Missense 2:224474294-224474294 - LUAD-D02185 COSM391538 c.1314_1316delGAG p.R439delR Deletion - In frame 2:224503713-224503715 - PA285 COSM1163238 c.595T>A p.S199T Substitution - Missense 2:224513583-224513583 - TCGA-18-5595-01 COSM720514 c.764C>G p.S255* Substitution - Nonsense 2:224511473-224511473 - 2011-2361:2012-1294-T COSM4603954 c.827_828insT p.V277fs*28 Insertion - Frameshift 2:224511409-224511410 - TP_2010 COSM5566474 c.1763G>A p.R588Q Substitution - Missense 2:224495911-224495911 - TCGA-AZ-6601-01 COSM1405866 c.914G>A p.R305H Substitution - Missense 2:224506973-224506973 - TCGA-B5-A0JY-01 COSM1017118 c.668A>C p.K223T Substitution - Missense 2:224511569-224511569 - KM12 COSM1669806 c.602A>G p.Y201C Substitution - Missense 2:224513576-224513576 - HX29T COSM3709454 c.1862A>G p.D621G Substitution - Missense 2:224482059-224482059 - HN_62741 COSM122429 c.2106G>C p.E702D Substitution - Missense 2:224478269-224478269 - LAU149 COSM232116 c.809C>T p.S270F Substitution - Missense 2:224511428-224511428 - 2011-2351:2012-330-T COSM4603903 c.1358_1359insA p.N453fs*5 Insertion - Frameshift 2:224503670-224503671 - TCGA-AX-A05Z-01 COSM1017113 c.1219G>T p.E407* Substitution - Nonsense 2:224503810-224503810 - TCGA-18-5592-01 COSM720516 c.1378-1G>A p.? Unknown 2:224503073-224503073 - TCGA-B5-A11E-01 COSM1017121 c.531C>T p.V177V Substitution - coding silent 2:224514620-224514620 - TCGA-A6-3810-01 COSM291382 c.1597G>C p.E533Q Substitution - Missense 2:224500376-224500376 - TCGA-JW-A5VK-01 COSM4855130 c.2176-2A>T p.? Unknown 2:224474378-224474378 - TCGA-UB-A7MA-01 COSM4910034 c.1467A>G p.Q489Q Substitution - coding silent 2:224502983-224502983 - HX5T COSM53506 c.1631G>A p.S544N Substitution - Missense 2:224497829-224497829 - T2197 COSM4675564 c.460T>C p.Y154H Substitution - Missense 2:224514691-224514691 - PCA17-1 COSM220022 c.896T>G p.M299R Substitution - Missense 2:224506991-224506991 - TCGA-AP-A051-01 COSM1017106 c.2278G>A p.D760N Substitution - Missense 2:224474274-224474274 - ESCC-207T COSM3938951 c.1276G>C p.D426H Substitution - Missense 2:224503753-224503753 - 2293757 COSM4606875 c.1892T>G p.L631R Substitution - Missense 2:224482029-224482029 - TCGA-AB-2997-03 COSM158636 c.36G>T p.K12N Substitution - Missense 2:224584974-224584974 - TCGA-AP-A051-01 COSM1017125 c.149G>A p.S50N Substitution - Missense 2:224557774-224557774 - 6536 COSM1644526 c.664C>A p.Q222K Substitution - Missense 2:224511573-224511573 - TCGA-BQ-5885-01 COSM3991108 c.124C>T p.Q42* Substitution - Nonsense 2:224557799-224557799 - TCGA-AP-A051-01 COSM1017115 c.886C>A p.L296I Substitution - Missense 2:224507001-224507001 - 10-P083 COSM4583256 c.395A>G p.Q132R Substitution - Missense 2:224514756-224514756 - 2011-2301:2012-320-T COSM4603908 c.1902_1903insCCTC p.A635fs*5 Insertion - Frameshift 2:224482018-224482019 - K180 COSM249400 c.1795A>G p.M599V Substitution - Missense 2:224495879-224495879 - RH18C COSM3046527 c.864G>C p.L288F Substitution - Missense 2:224511373-224511373 - TCGA-37-4141-01 COSM720520 c.2192A>T p.K731M Substitution - Missense 2:224474360-224474360 - YULAPE COSM1692065 c.434T>A p.I145N Substitution - Missense 2:224514717-224514717 - AD17 COSM5966271 c.56G>T p.R19L Substitution - Missense 2:224584954-224584954 - TCGA-B5-A11G-01 COSM1017124 c.231A>C p.L77L Substitution - coding silent 2:224557692-224557692 - TCGA-FC-7708-01 COSM1471257 c.1193A>G p.K398R Substitution - Missense 2:224505969-224505969 - TCGA-BR-7707-01 COSM4091967 c.1448C>T p.T483M Substitution - Missense 2:224503002-224503002 - TCGA-66-2800-01 COSM720511 c.540-2A>G p.? Unknown 2:224513640-224513640 - 1960590 COSM53506 c.1631G>A p.S544N Substitution - Missense 2:224497829-224497829 - ESCC_37 COSM5628950 c.2251A>T p.R751* Substitution - Nonsense 2:224474301-224474301 - TCGA-B5-A0JY-01 COSM1017122 c.269G>A p.R90Q Substitution - Missense 2:224535637-224535637 - S01563 COSM5670037 c.16A>G p.K6E Substitution - Missense 2:224584994-224584994 - 2011-2315:2012-358-T COSM4603733 c.1366delT p.S456fs*3 Deletion - Frameshift 2:224503663-224503663 - TCGA-BR-4257-01 COSM4091969 c.716C>T p.A239V Substitution - Missense 2:224511521-224511521 - CHEWS010 COSM4583255 c.922A>C p.N308H Substitution - Missense 2:224506965-224506965 - ccRCC-18 COSM1661335 c.1516C>T p.R506W Substitution - Missense 2:224500457-224500457 - TCGA-F1-6874-01 COSM4091971 c.277G>A p.V93I Substitution - Missense 2:224535629-224535629 - ESCC_163 COSM5648043 c.1102C>T p.Q368* Substitution - Nonsense 2:224506060-224506060 - CSCC-45-T COSM4448591 c.89delT p.V30fs*8 Deletion - Frameshift 2:224557834-224557834 - TCGA-D9-A3Z4-01 COSM3578278 c.2000C>T p.S667F Substitution - Missense 2:224481921-224481921 - C0010T COSM4164412 c.245C>G p.T82S Substitution - Missense 2:224557678-224557678 - TCGA-CZ-5457-01 COSM476985 c.1791C>A p.F597L Substitution - Missense 2:224495883-224495883 - TCGA-AD-6964-01 COSM1405865 c.1903G>A p.A635T Substitution - Missense 2:224482018-224482018 - TCGA-BR-8081-01 COSM4091968 c.787G>A p.V263M Substitution - Missense 2:224511450-224511450 - TCGA-FW-A3R5-06 COSM3909703 c.1554C>T p.A518A Substitution - coding silent 2:224500419-224500419 - TCGA-D5-6930-01 COSM1405861 c.2212C>T p.P738S Substitution - Missense 2:224474340-224474340 - TCGA-D1-A17B-01 COSM1017112 c.1708-1G>T p.? Unknown 2:224495967-224495967 - 587234 COSM1202683 c.913C>T p.R305C Substitution - Missense 2:224506974-224506974 - 3N50-VS-3T50 COSM4983082 c.1378-1G>C p.? Unknown 2:224503073-224503073 - TCGA-BH-A0EE-01 COSM442399 c.1285G>A p.E429K Substitution - Missense 2:224503744-224503744 - ESOSCC157T COSM1172850 c.1098delT p.F366fs*31 Deletion - Frameshift 2:224506064-224506064 - TCGA-BP-4964-01 COSM210189 c.2256A>G p.E752E Substitution - coding silent 2:224474296-224474296 - TCGA-BS-A0UV-01 COSM1017119 c.649T>G p.F217V Substitution - Missense 2:224513529-224513529 - TCGA-D1-A103-01 COSM1017116 c.845C>A p.S282Y Substitution - Missense 2:224511392-224511392 - PT53 COSM5941181 c.1428T>A p.D476E Substitution - Missense 2:224503022-224503022 - TCGA-EU-5906-01 COSM476984 c.2112A>G p.E704E Substitution - coding silent 2:224478263-224478263 - pfg068T COSM4764665 c.1868C>T p.P623L Substitution - Missense 2:224482053-224482053 - TCGA-EE-A2MM-06 COSM3578284 c.85T>C p.Y29H Substitution - Missense 2:224557838-224557838 - TARGET-30-PANUIF COSM1284362 c.18A>T p.K6N Substitution - Missense 2:224584992-224584992 - TCGA-66-2785-01 COSM720521 c.2252G>C p.R751T Substitution - Missense 2:224474300-224474300 - TCGA-AN-A0FL-01 COSM442398 c.2016C>G p.V672V Substitution - coding silent 2:224481905-224481905 - B80-8-Tumor COSM1752385 c.1687T>G p.F563V Substitution - Missense 2:224497773-224497773 - H_KA-758168-0816987 COSM158636 c.36G>T p.K12N Substitution - Missense 2:224584974-224584974 - BCM617T COSM4955893 c.2267G>T p.R756L Substitution - Missense 2:224474285-224474285 - pfg344T COSM4764666 c.1000G>A p.E334K Substitution - Missense 2:224506887-224506887 - TCGA-CJ-4876-01 COSM3364604 c.454G>A p.V152I Substitution - Missense 2:224514697-224514697 - TCGA-A4-A57E-01 COSM3991107 c.177A>C p.R59S Substitution - Missense 2:224557746-224557746 - TCGA-AL-7173-01 COSM3991109 c.5C>A p.S2* Substitution - Nonsense 2:224585005-224585005 - TCGA-AL-7173-01 COSM3991106 c.230T>C p.L77P Substitution - Missense 2:224557693-224557693 - TCGA-85-6561-01 COSM720509 c.145A>G p.N49D Substitution - Missense 2:224557778-224557778 - 2011-2325:2012-337-T COSM4605734 c.652C>T p.Q218* Substitution - Nonsense 2:224513526-224513526 - B52 COSM1745168 c.1931_1938delTTACAAAA p.L644fs*16 Deletion - Frameshift 2:224481983-224481990 - KM12 COSM1669806 c.602A>G p.Y201C Substitution - Missense 2:224513576-224513576 - YULAXER COSM1692066 c.37G>A p.D13N Substitution - Missense 2:224584973-224584973 - 408 COSM4430492 c.1611-2A>G p.? Unknown 2:224497851-224497851 - TCGA-39-5021-01 COSM720519 c.2029+1G>A p.? Unknown 2:224481891-224481891 - TCGA-DJ-A4V4-01 COSM3372659 c.1611G>T p.R537S Substitution - Missense 2:224497849-224497849 - TCGA-33-6737-01 COSM720508 c.27C>T p.G9G Substitution - coding silent 2:224584983-224584983 - OSCC-GB_00140111 COSM3713627 c.415G>T p.V139F Substitution - Missense 2:224514736-224514736 - SC_9012 COSM5554181 c.1171T>G p.F391V Substitution - Missense 2:224505991-224505991 - TCGA-AR-A0U0-01 COSM4603903 c.1358_1359insA p.N453fs*5 Insertion - Frameshift 2:224503670-224503671 - TCGA-EE-A2MR-06 COSM3578283 c.622C>T p.P208S Substitution - Missense 2:224513556-224513556 - SJHGG034_D COSM4970331 c.767C>T p.T256M Substitution - Missense 2:224511470-224511470 - 758168 COSM158636 c.36G>T p.K12N Substitution - Missense 2:224584974-224584974 - STC252 COSM5058709 c.1755T>C p.S585S Substitution - coding silent 2:224495919-224495919 - B80-8 COSM1752385 c.1687T>G p.F563V Substitution - Missense 2:224497773-224497773 - C135 COSM4618176 c.2077C>G p.Q693E Substitution - Missense 2:224478298-224478298 - cSCCP7 COSM139436 c.2197C>T p.R733* Substitution - Nonsense 2:224474355-224474355 - LUAD-S01302 COSM395965 c.544G>T p.A182S Substitution - Missense 2:224513634-224513634 - TCGA-BH-A18G-01 COSM3838733 c.678A>G p.A226A Substitution - coding silent 2:224511559-224511559 - TCGA-BP-4963-01 COSM476986 c.1325C>G p.T442R Substitution - Missense 2:224503704-224503704 - TCGA-A4-A5Y0-01 COSM3991105 c.1637G>C p.R546P Substitution - Missense 2:224497823-224497823 - TCGA-B5-A0JY-01 COSM1017120 c.586G>A p.E196K Substitution - Missense 2:224513592-224513592 - TCGA-B5-A11E-01 COSM1017109 c.1994T>A p.F665Y Substitution - Missense 2:224481927-224481927 - Pat_22_B COSM1692066 c.37G>A p.D13N Substitution - Missense 2:224584973-224584973 - A498 COSM1669807 c.154C>G p.L52V Substitution - Missense 2:224557769-224557769 - 2011-2352:2012-297-T COSM4605926 c.79G>A p.E27K Substitution - Missense 2:224557844-224557844 - HN_62897 COSM122430 c.198G>T p.L66F Substitution - Missense 2:224557725-224557725 - S02342 COSM5692747 c.200A>G p.H67R Substitution - Missense 2:224557723-224557723 - TCGA-A8-A09Z-01 COSM3838735 c.464G>A p.G155E Substitution - Missense 2:224514687-224514687 - 251 COSM1669807 c.154C>G p.L52V Substitution - Missense 2:224557769-224557769 - TCGA-CH-5744-01 COSM1129301 c.412A>G p.N138D Substitution - Missense 2:224514739-224514739 - TCGA-D1-A17M-01 COSM1017117 c.843T>C p.N281N Substitution - coding silent 2:224511394-224511394 - 3402_T COSM3962444 c.2306A>G p.*769* Substitution - coding silent 2:224474246-224474246 - TCGA-D1-A17H-01 COSM1017108 c.2133G>A p.M711I Substitution - Missense 2:224478242-224478242 - TCGA-BS-A0U7-01 COSM1017107 c.2154G>A p.Q718Q Substitution - coding silent 2:224478221-224478221 - CLL101 COSM1291452 c.834A>G p.E278E Substitution - coding silent 2:224511403-224511403 - ESCC_152 COSM5645459 c.1121_1122delTT p.F374fs*1 Deletion - Frameshift 2:224506040-224506041 - EWS502 COSM4583254 c.1072G>C p.E358Q Substitution - Missense 2:224506090-224506090 - 256528 COSM3724928 c.1568A>G p.N523S Substitution - Missense 2:224500405-224500405 - PD11376a COSM5794337 c.551G>C p.R184T Substitution - Missense 2:224513627-224513627 - TCGA-EE-A3AG-06 COSM3578279 c.1785C>T p.S595S Substitution - coding silent 2:224495889-224495889 - TCGA-EE-A2GD-06 COSM3578281 c.1417A>T p.M473L Substitution - Missense 2:224503033-224503033 - AML15 COSM158636 c.36G>T p.K12N Substitution - Missense 2:224584974-224584974 - 13T COSM3718880 c.493_494delCT p.L165fs*37 Deletion - Frameshift 2:224514657-224514658 - 14T COSM3713627 c.415G>T p.V139F Substitution - Missense 2:224514736-224514736 - 2011-2271:2012-328-T COSM4604309 c.1376A>T p.K459M Substitution - Missense 2:224503653-224503653 - TCGA-ED-A7XP-01 COSM4913439 c.711A>G p.V237V Substitution - coding silent 2:224511526-224511526 - TCGA-ER-A194-01 COSM3578280 c.1735G>A p.G579S Substitution - Missense 2:224495939-224495939 - YUDEXA COSM1692064 c.1939G>A p.E647K Substitution - Missense 2:224481982-224481982 - pfg127T COSM4764667 c.365T>C p.I122T Substitution - Missense 2:224535541-224535541 - ESO-160 COSM1249457 c.2282G>A p.R761H Substitution - Missense 2:224474270-224474270 - TCGA-24-2024-01 COSM70344 c.274G>C p.D92H Substitution - Missense 2:224535632-224535632 - TCGA-18-4721-01 COSM720512 c.712G>T p.E238* Substitution - Nonsense 2:224511525-224511525 - 2521259 COSM5889674 c.1288C>T p.R430C Substitution - Missense 2:224503741-224503741 - TCGA-G4-6586-01 COSM1405864 c.2027C>T p.T676I Substitution - Missense 2:224481894-224481894 - T3094 COSM4675563 c.722T>G p.I241S Substitution - Missense 2:224511515-224511515 - TCGA-K4-A3WU-01 COSM3798681 c.989C>A p.S330Y Substitution - Missense 2:224506898-224506898 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.372286 2q36.2 603136 2486351|CGAP|BC039598|A/C|non-coding||2678|Candidate; 2486351|CGAP|BC092409|A/C|non-coding||2678|Candidate; 2486356|CGAP|BC039598|C/T|non-coding||2699|Candidate; 2486356|CGAP|BC092409|C/T|non-coding||2699|Candidate; 2422234|dbSNP|BC039598|A/C|non-coding||2899|Validated; 2422234|dbSNP|BC092409|A/C|non-coding||2899|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L418R c.1253T>G 2 225368493 HNSC A C Missense p.L559R c.1676T>G 2 225362501 PRAD A C Missense p.M287R c.860T>G 2 225376094 HNSC A C Missense p.S53R c.159T>G 2 225422481 LUSC A G Missense p.Y29H c.85T>C 2 225422555 CM A G Synonymous p.N281N c.843T>C 2 225376111 UCEC A - IntronicDeletion . c.1610+494delT 2 225364586 CM - C 3-UTRInsertion . c.2304+3646dupG 2 225335319 HC C A IntronicSNV . c.67-5408G>T 2 225427981 PAAD C A Missense p.K12N c.36G>T 2 225449691 AML C A Missense p.L66F c.198G>T 2 225422442 HNSC C A Missense p.V677F c.2029G>T 2 225346609 LUSC C A Nonsense p.E238* c.712G>T 2 225376242 LUSC C A Nonsense p.E615* c.1843G>T 2 225346795 LUAD C A SpliceAcceptorSNV . c.1486-1G>T 2 225365205 HNSC C G IntronicSNV . c.1377+16G>C 2 225368353 NSCLC C G Missense p.D426H c.1276G>C 2 225368470 HNSC C G Missense p.D92H c.274G>C 2 225400349 OV C G Missense p.E206Q c.616G>C 2 225378279 HNSC C G Missense p.E533Q c.1597G>C 2 225365093 COREAD C G Missense p.E702D c.2106G>C 2 225342986 HNSC C G Missense p.L321F c.963G>C 2 225371641 HNSC C T Missense p.A115T c.343G>A 2 225400280 HNSC C T Missense p.E243K c.727G>A 2 225376227 LUAD C T Missense p.E243K c.727G>A 2 225376227 LUSC C T Missense p.E429K c.1285G>A 2 225368461 BRCA C T Missense p.G579S c.1735G>A 2 225360656 CM C T Missense p.R546Q c.1637G>A 2 225362540 STAD C T Missense p.R761H c.2282G>A 2 225338987 ESCA C T Missense p.V152I c.454G>A 2 225379414 RCCC C T Missense p.V81I c.241G>A 2 225422399 ESCA C T Missense p.V93I c.277G>A 2 225400346 STAD C T SpliceAcceptorSNV . c.1378-1G>A 2 225367790 LUSC C T SpliceAcceptorSNV . c.655-1G>A 2 225376300 LUAD C T SpliceDonorSNV . c.2029+1G>A 2 225346608 LUSC C T Synonymous p.L288L c.864G>A 2 225376090 HNSC G A 3-UTRSNV . c.2304+90C>T 2 225338875 CM GA - Frameshift p.P385*fs*1 c.1152_1153delTC 2 225370726 RCCC G A Missense p.A239V c.716C>T 2 225376238 STAD G A Missense p.L356F c.1066C>T 2 225370813 CM G A Missense p.T509M c.1526C>T 2 225365164 HNSC G A Nonsense p.Q113* c.337C>T 2 225400286 HNSC G A Synonymous p.A20A c.60C>T 2 225449667 CM G A Synonymous p.G9G c.27C>T 2 225449700 LUSC G A Synonymous p.L548L c.1644C>T 2 225362533 BRCA G A Synonymous p.S595S c.1785C>T 2 225360606 CM G C Missense p.L195V c.583C>G 2 225378312 BRCA G C Missense p.T442R c.1325C>G 2 225368421 RCCC G C Nonsense p.S255* c.764C>G 2 225376190 LUSC G C Synonymous p.V672V c.2016C>G 2 225346622 BRCA G T Missense p.F597L c.1791C>A 2 225360600 RCCC T A Missense p.K6N c.18A>T 2 225449709 NB T A Missense p.K731M c.2192A>T 2 225339077 LUSC T A Missense p.M473L c.1417A>T 2 225367750 CM T A Missense p.N48Y c.142A>T 2 225422498 RCCC T A Missense p.S544C c.1630A>T 2 225362547 LUAD T A Nonsense p.K521* c.1561A>T 2 225365129 HNSC T C Missense p.K398R c.1193A>G 2 225370686 PRAD T C Missense p.K452E c.1354A>G 2 225368392 LUAD T C Missense p.N138D c.412A>G 2 225379456 PRAD T C Missense p.N49D c.145A>G 2 225422495 LUSC T C Missense p.Y539C c.1616A>G 2 225362561 LUAD T C SpliceAcceptorSNV . c.540-2A>G 2 225378357 LUSC T C Synonymous p.E278E c.834A>G 2 225376120 CLL T C Synonymous p.E704E c.2112A>G 2 225342980 RCCC T - Frameshift p.K398Rfs*6 c.1193delA 2 225370686 STAD T G Missense p.E652A c.1955A>C 2 225346683 STAD T G Synonymous p.L77L c.231A>C 2 225422409 UCEC