Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 127806111 127806111 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr2:127806111C>A c.1773G>T c.(1771-1773)agG>agT p.R591S BLCA 2 127821519 127821519 + Silent SNP G G A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr2:127821519G>A c.688C>T c.(688-690)Ctg>Ttg p.L230L BLCA 2 127821577 127821577 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr2:127821577G>C c.630C>G c.(628-630)atC>atG p.I210M BLCA 2 127825814 127825814 + Silent SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr2:127825814C>T c.537G>A c.(535-537)gaG>gaA p.E179E BLCA 2 127834214 127834214 + Missense_Mutation SNP G G C TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr2:127834214G>C c.153C>G c.(151-153)ttC>ttG p.F51L BLCA 2 127834239 127834239 + Missense_Mutation SNP T T G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr2:127834239T>G c.128A>C c.(127-129)cAg>cCg p.Q43P BLCA 2 127834283 127834283 + Splice_Site SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr2:127834283C>T c.e2-1 BRCA 2 127806177 127806177 + Silent SNP G G A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 g.chr2:127806177G>A c.1707C>T c.(1705-1707)agC>agT p.S569S BRCA 2 127816681 127816681 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:127816681G>C c.908C>G c.(907-909)tCc>tGc p.S303C BRCA 2 127827627 127827627 + Frame_Shift_Del DEL C C - TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 g.chr2:127827627delC c.355delG c.(355-357)gtgfs p.V119fs CESC 2 127809887 127809887 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr2:127809887C>G c.1315G>C c.(1315-1317)Gag>Cag p.E439Q CESC 2 127827588 127827588 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr2:127827588G>A c.394C>T c.(394-396)Cag>Tag p.Q132* CHOL 2 127811543 127811543 + Missense_Mutation SNP G G T TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr2:127811543G>T c.1177C>A c.(1177-1179)Ctg>Atg p.L393M CHOL 2 127821523 127821523 + Silent SNP C C T TCGA-ZH-A8Y1-01A-11D-A417-09 TCGA-ZH-A8Y1-10A-01D-A41A-09 g.chr2:127821523C>T c.684G>A c.(682-684)ccG>ccA p.P228P COAD 2 127808053 127808053 + Missense_Mutation SNP G G T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:127808053G>T c.1618C>A c.(1618-1620)Cag>Aag p.Q540K COAD 2 127811493 127811493 + Silent SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr2:127811493C>T c.1227G>A c.(1225-1227)acG>acA p.T409T COAD 2 127816695 127816695 + Silent SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:127816695C>T c.894G>A c.(892-894)tcG>tcA p.S298S COAD 2 127825801 127825801 + Frame_Shift_Del DEL G G - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr2:127825801delG c.550delC c.(550-552)cagfs p.Q184fs COAD 2 127828166 127828166 + Missense_Mutation SNP T T C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr2:127828166T>C c.278A>G c.(277-279)gAt>gGt p.D93G COADREAD 2 127806139 127806139 + Missense_Mutation SNP C C A TCGA-AG-A02G-01A-01W-A00E-09 TCGA-AG-A02G-10A-01W-A00E-09 g.chr2:127806139C>A c.1745G>T c.(1744-1746)gGc>gTc p.G582V COADREAD 2 127808053 127808053 + Missense_Mutation SNP G G T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr2:127808053G>T c.1618C>A c.(1618-1620)Cag>Aag p.Q540K COADREAD 2 127809921 127809921 + Silent SNP G G A TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr2:127809921G>A c.1281C>T c.(1279-1281)gcC>gcT p.A427A COADREAD 2 127811493 127811493 + Silent SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr2:127811493C>T c.1227G>A c.(1225-1227)acG>acA p.T409T COADREAD 2 127811527 127811527 + Missense_Mutation SNP A A G TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr2:127811527A>G c.1193T>C c.(1192-1194)cTc>cCc p.L398P COADREAD 2 127816682 127816682 + Missense_Mutation SNP A A G TCGA-DC-5869-01A-01D-1657-10 TCGA-DC-5869-10A-01D-1657-10 g.chr2:127816682A>G c.907T>C c.(907-909)Tcc>Ccc p.S303P COADREAD 2 127816695 127816695 + Silent SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:127816695C>T c.894G>A c.(892-894)tcG>tcA p.S298S COADREAD 2 127825801 127825801 + Frame_Shift_Del DEL G G - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr2:127825801delG c.550delC c.(550-552)cagfs p.Q184fs COADREAD 2 127828166 127828166 + Missense_Mutation SNP T T C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr2:127828166T>C c.278A>G c.(277-279)gAt>gGt p.D93G DLBC 2 127809840 127809840 + Silent SNP C C A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr2:127809840C>A c.1362G>T c.(1360-1362)ggG>ggT p.G454G DLBC 2 127811561 127811561 + Nonsense_Mutation SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr2:127811561G>A c.1159C>T c.(1159-1161)Cag>Tag p.Q387* DLBC 2 127827598 127827598 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr2:127827598C>T c.384G>A c.(382-384)acG>acA p.T128T ESCA 2 127825800 127825801 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr2:127825800_127825801insG c.550_551insC c.(550-552)cagfs p.Q184fs GBMLGG 2 127825747 127825747 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:127825747G>A c.604C>T c.(604-606)Cga>Tga p.R202* GBMLGG 2 127828379 127828379 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 g.chr2:127828379C>T c.179G>A c.(178-180)cGg>cAg p.R60Q HNSC 2 127821184 127821184 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr2:127821184G>A c.737C>T c.(736-738)gCg>gTg p.A246V HNSC 2 127825806 127825806 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr2:127825806G>A c.545C>T c.(544-546)gCc>gTc p.A182V HNSC 2 127827599 127827599 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr2:127827599G>A c.383C>T c.(382-384)aCg>aTg p.T128M HNSC 2 127828359 127828359 + Missense_Mutation SNP T T C TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr2:127828359T>C c.199A>G c.(199-201)Acc>Gcc p.T67A KICH 2 127810999 127810999 + Splice_Site SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr2:127810999T>C c.1262A>G c.(1261-1263)gAg>gGg p.E421G KIPAN 2 127808049 127808049 + Missense_Mutation SNP A A C TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr2:127808049A>C c.1622T>G c.(1621-1623)cTc>cGc p.L541R KIPAN 2 127810999 127810999 + Splice_Site SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr2:127810999T>C c.1262A>G c.(1261-1263)gAg>gGg p.E421G KIPAN 2 127818193 127818193 + Intron SNP C C G TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chr2:127818193C>G KIPAN 2 127828371 127828371 + Missense_Mutation SNP T T C TCGA-DW-5560-01A-01D-1589-08 TCGA-DW-5560-10A-01D-1589-08 g.chr2:127828371T>C c.187A>G c.(187-189)Aag>Gag p.K63E KIRC 2 127808049 127808049 + Missense_Mutation SNP A A C TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr2:127808049A>C c.1622T>G c.(1621-1623)cTc>cGc p.L541R KIRP 2 127818193 127818193 + Intron SNP C C G TCGA-B9-4113-01A-01D-1252-08 TCGA-B9-4113-11A-01D-1252-08 g.chr2:127818193C>G KIRP 2 127828371 127828371 + Missense_Mutation SNP T T C TCGA-DW-5560-01A-01D-1589-08 TCGA-DW-5560-10A-01D-1589-08 g.chr2:127828371T>C c.187A>G c.(187-189)Aag>Gag p.K63E LGG 2 127825747 127825747 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:127825747G>A c.604C>T c.(604-606)Cga>Tga p.R202* LGG 2 127828379 127828379 + Missense_Mutation SNP C C T TCGA-CS-4941-01A-01D-1468-08 TCGA-CS-4941-10A-01D-1468-08 g.chr2:127828379C>T c.179G>A c.(178-180)cGg>cAg p.R60Q LIHC 2 127806198 127806198 + Nonsense_Mutation SNP C C T TCGA-DD-A73G-01A-22D-A32G-10 TCGA-DD-A73G-10A-01D-A32G-10 g.chr2:127806198C>T c.1686G>A c.(1684-1686)tgG>tgA p.W562* LIHC 2 127808484 127808484 + Missense_Mutation SNP G G T TCGA-GJ-A9DB-01A-11D-A36X-10 TCGA-GJ-A9DB-10A-01D-A370-10 g.chr2:127808484G>T c.1466C>A c.(1465-1467)tCt>tAt p.S489Y LIHC 2 127821169 127821169 + Frame_Shift_Del DEL T T - TCGA-DD-A116-01A-11D-A12Z-10 TCGA-DD-A116-10A-01D-A12Z-10 g.chr2:127821169delT c.752delA c.(751-753)aacfs p.N251fs LIHC 2 127821169 127821169 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr2:127821169delT c.752delA c.(751-753)aacfs p.N251fs LUAD 2 127808384 127808384 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr2:127808384C>A c.1566G>T c.(1564-1566)atG>atT p.M522I LUAD 2 127818195 127818195 + Intron SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chr2:127818195C>T LUAD 2 127819726 127819726 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr2:127819726G>A c.822C>T c.(820-822)caC>caT p.H274H LUAD 2 127821174 127821174 + Silent SNP C C T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr2:127821174C>T c.747G>A c.(745-747)gaG>gaA p.E249E LUAD 2 127826500 127826500 + Splice_Site SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 g.chr2:127826500C>A c.519G>T c.(517-519)aaG>aaT p.K173N LUAD 2 127826587 127826587 + Silent SNP C C A TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr2:127826587C>A c.432G>T c.(430-432)ggG>ggT p.G144G LUAD 2 127826603 127826603 + Missense_Mutation SNP C C A TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr2:127826603C>A c.416G>T c.(415-417)cGc>cTc p.R139L LUAD 2 127834262 127834262 + Missense_Mutation SNP C C A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr2:127834262C>A c.105G>T c.(103-105)aaG>aaT p.K35N OV 2 127818189 127818189 + Intron SNP C C A TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 g.chr2:127818189C>A OV 2 127825762 127825762 + Missense_Mutation SNP G G C TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chr2:127825762G>C c.589C>G c.(589-591)Caa>Gaa p.Q197E OV 2 127827574 127827574 + Silent SNP G G T TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 g.chr2:127827574G>T c.408C>A c.(406-408)atC>atA p.I136I OV 2 127827645 127827645 + Missense_Mutation SNP C C G TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 g.chr2:127827645C>G c.337G>C c.(337-339)Gat>Cat p.D113H OV 2 127828167 127828167 + Missense_Mutation SNP C C T TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 g.chr2:127828167C>T c.277G>A c.(277-279)Gat>Aat p.D93N PAAD 2 127808793 127808794 + Frame_Shift_Ins INS - - CCCG TCGA-FZ-5923-01A-12D-1609-08 TCGA-FZ-5923-11A-01D-1609-08 g.chr2:127808793_127808794insCCCG c.1397_1398insCGGG c.(1396-1398)ggtfs p.G466fs READ 2 127806139 127806139 + Missense_Mutation SNP C C A TCGA-AG-A02G-01A-01W-A00E-09 TCGA-AG-A02G-10A-01W-A00E-09 g.chr2:127806139C>A c.1745G>T c.(1744-1746)gGc>gTc p.G582V READ 2 127809921 127809921 + Silent SNP G G A TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr2:127809921G>A c.1281C>T c.(1279-1281)gcC>gcT p.A427A READ 2 127811527 127811527 + Missense_Mutation SNP A A G TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr2:127811527A>G c.1193T>C c.(1192-1194)cTc>cCc p.L398P READ 2 127816682 127816682 + Missense_Mutation SNP A A G TCGA-DC-5869-01A-01D-1657-10 TCGA-DC-5869-10A-01D-1657-10 g.chr2:127816682A>G c.907T>C c.(907-909)Tcc>Ccc p.S303P SARC 2 127828348 127828348 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr2:127828348G>A c.210C>T c.(208-210)gcC>gcT p.A70A SKCM 2 127808019 127808019 + Missense_Mutation SNP G G A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 g.chr2:127808019G>A c.1652C>T c.(1651-1653)cCc>cTc p.P551L SKCM 2 127808387 127808387 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr2:127808387G>A c.1563C>T c.(1561-1563)ttC>ttT p.F521F SKCM 2 127808401 127808401 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr2:127808401G>A c.1549C>T c.(1549-1551)Ctg>Ttg p.L517L SKCM 2 127809905 127809905 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr2:127809905C>T c.1297G>A c.(1297-1299)Ggg>Agg p.G433R SKCM 2 127821166 127821166 + Missense_Mutation SNP A A T TCGA-FR-A44A-06A-11D-A24R-08 TCGA-FR-A44A-10A-01D-A24R-08 g.chr2:127821166A>T c.755T>A c.(754-756)tTc>tAc p.F252Y SKCM 2 127821182 127821182 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr2:127821182C>T c.739G>A c.(739-741)Ggc>Agc p.G247S SKCM 2 127821520 127821520 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr2:127821520G>A c.687C>T c.(685-687)tcC>tcT p.S229S SKCM 2 127821555 127821555 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr2:127821555C>T c.652G>A c.(652-654)Gag>Aag p.E218K SKCM 2 127828159 127828159 + Silent SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr2:127828159G>A c.285C>T c.(283-285)ccC>ccT p.P95P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 2 127806075 127806075 single base substitution C T 3_prime_UTR_variant ALL-US 2 127806075 127806075 single base substitution C T downstream_gene_variant ALL-US 2 127806075 127806075 single base substitution C T exon_variant BLCA-CN 2 127825824 127825824 single base substitution G A intron_variant BLCA-CN 2 127825824 127825824 single base substitution G A missense_variant S176L 527C>T BLCA-CN 2 127825824 127825824 single base substitution G A upstream_gene_variant BLCA-US 2 127821519 127821519 single base substitution G A exon_variant BLCA-US 2 127821519 127821519 single base substitution G A synonymous_variant L199L 595C>T BLCA-US 2 127821519 127821519 single base substitution G A synonymous_variant L230L 688C>T BLCA-US 2 127834283 127834283 single base substitution C T splice_acceptor_variant BRCA-EU 2 127801132 127801132 single base substitution A G downstream_gene_variant BRCA-EU 2 127802933 127802933 single base substitution C T downstream_gene_variant BRCA-EU 2 127803585 127803585 single base substitution G A downstream_gene_variant BRCA-EU 2 127805155 127805155 single base substitution C T downstream_gene_variant BRCA-EU 2 127806712 127806712 single base substitution G C downstream_gene_variant BRCA-EU 2 127806712 127806712 single base substitution G C intron_variant BRCA-EU 2 127809920 127809920 single base substitution C T exon_variant BRCA-EU 2 127809920 127809920 single base substitution C T intron_variant BRCA-EU 2 127809920 127809920 single base substitution C T missense_variant G310S 928G>A BRCA-EU 2 127809920 127809920 single base substitution C T missense_variant G341S 1021G>A BRCA-EU 2 127809920 127809920 single base substitution C T missense_variant G353S 1057G>A BRCA-EU 2 127809920 127809920 single base substitution C T missense_variant G385S 1153G>A BRCA-EU 2 127809920 127809920 single base substitution C T missense_variant G428S 1282G>A BRCA-EU 2 127812196 127812196 single base substitution A T exon_variant BRCA-EU 2 127812196 127812196 single base substitution A T intron_variant BRCA-EU 2 127813054 127813054 single base substitution G A exon_variant BRCA-EU 2 127813054 127813054 single base substitution G A intron_variant BRCA-EU 2 127813519 127813519 single base substitution C T exon_variant BRCA-EU 2 127813519 127813519 single base substitution C T intron_variant BRCA-EU 2 127814513 127814513 single base substitution G A intron_variant BRCA-EU 2 127814513 127814513 single base substitution G A upstream_gene_variant BRCA-EU 2 127815208 127815208 single base substitution C T intron_variant BRCA-EU 2 127815208 127815208 single base substitution C T upstream_gene_variant BRCA-EU 2 127815630 127815630 single base substitution C T intron_variant BRCA-EU 2 127815630 127815630 single base substitution C T upstream_gene_variant BRCA-EU 2 127817050 127817050 single base substitution C T intron_variant BRCA-EU 2 127817050 127817050 single base substitution C T upstream_gene_variant BRCA-EU 2 127819252 127819252 single base substitution G C intron_variant BRCA-EU 2 127819483 127819483 single base substitution C T intron_variant BRCA-EU 2 127819724 127819724 single base substitution C A exon_variant BRCA-EU 2 127819724 127819724 single base substitution C A missense_variant G244V 731G>T BRCA-EU 2 127819724 127819724 single base substitution C A missense_variant G275V 824G>T BRCA-EU 2 127821009 127821009 single base substitution C T intron_variant BRCA-EU 2 127821082 127821082 single base substitution C T intron_variant BRCA-EU 2 127821157 127821157 single base substitution T C exon_variant BRCA-EU 2 127821157 127821157 single base substitution T C missense_variant E224G 671A>G BRCA-EU 2 127821157 127821157 single base substitution T C missense_variant E255G 764A>G BRCA-EU 2 127821437 127821437 single base substitution A G intron_variant BRCA-EU 2 127822059 127822059 single base substitution C G intron_variant BRCA-EU 2 127822179 127822179 single base substitution G C intron_variant BRCA-EU 2 127823171 127823171 single base substitution C G intron_variant BRCA-EU 2 127823171 127823171 single base substitution C G upstream_gene_variant BRCA-EU 2 127823295 127823295 single base substitution C T intron_variant BRCA-EU 2 127823295 127823295 single base substitution C T upstream_gene_variant BRCA-EU 2 127824209 127824209 single base substitution C G intron_variant BRCA-EU 2 127824209 127824209 single base substitution C G upstream_gene_variant BRCA-EU 2 127824497 127824497 single base substitution A T intron_variant BRCA-EU 2 127824497 127824497 single base substitution A T upstream_gene_variant BRCA-EU 2 127824739 127824739 single base substitution G A intron_variant BRCA-EU 2 127824739 127824739 single base substitution G A upstream_gene_variant BRCA-EU 2 127825345 127825346 deletion of <=200bp AG - intron_variant BRCA-EU 2 127825345 127825346 deletion of <=200bp AG - upstream_gene_variant BRCA-EU 2 127826238 127826238 single base substitution G A intron_variant BRCA-EU 2 127826238 127826238 single base substitution G A upstream_gene_variant BRCA-EU 2 127827112 127827112 single base substitution G C intron_variant BRCA-EU 2 127827112 127827112 single base substitution G C upstream_gene_variant BRCA-EU 2 127828633 127828633 deletion of <=200bp C - intron_variant BRCA-EU 2 127830112 127830112 single base substitution G A intron_variant BRCA-EU 2 127830649 127830649 single base substitution G A intron_variant BRCA-EU 2 127830658 127830658 single base substitution G C intron_variant BRCA-EU 2 127830962 127830962 single base substitution G A intron_variant BRCA-EU 2 127834387 127834387 single base substitution C G intron_variant BRCA-EU 2 127836125 127836125 single base substitution G A intron_variant BRCA-EU 2 127837168 127837168 single base substitution G A intron_variant BRCA-EU 2 127837636 127837636 single base substitution C T intron_variant BRCA-EU 2 127837997 127837997 single base substitution G A intron_variant BRCA-EU 2 127841046 127841046 single base substitution C T intron_variant BRCA-EU 2 127841330 127841330 insertion of <=200bp - T intron_variant BRCA-EU 2 127842875 127842875 single base substitution G C intron_variant BRCA-EU 2 127843013 127843013 single base substitution T C intron_variant BRCA-EU 2 127843189 127843189 single base substitution G A intron_variant BRCA-EU 2 127843650 127843650 single base substitution G A intron_variant BRCA-EU 2 127844414 127844414 single base substitution C T intron_variant BRCA-EU 2 127844717 127844717 single base substitution C A intron_variant BRCA-EU 2 127846121 127846121 single base substitution G T intron_variant BRCA-EU 2 127846322 127846322 single base substitution A C intron_variant BRCA-EU 2 127846595 127846595 single base substitution G A intron_variant BRCA-EU 2 127847253 127847253 single base substitution G C intron_variant BRCA-EU 2 127849190 127849190 single base substitution C T intron_variant BRCA-EU 2 127849448 127849448 single base substitution G A intron_variant BRCA-EU 2 127849526 127849526 single base substitution C G intron_variant BRCA-EU 2 127850256 127850256 single base substitution C T intron_variant BRCA-EU 2 127852856 127852856 single base substitution G A intron_variant BRCA-EU 2 127855564 127855564 single base substitution T G intron_variant BRCA-EU 2 127856205 127856205 single base substitution C T intron_variant BRCA-EU 2 127858238 127858238 single base substitution A G intron_variant BRCA-EU 2 127858478 127858478 single base substitution C T intron_variant BRCA-EU 2 127860420 127860420 single base substitution C A intron_variant BRCA-EU 2 127860900 127860900 single base substitution G A intron_variant BRCA-EU 2 127864686 127864686 insertion of <=200bp - GCGA 5_prime_UTR_variant BRCA-EU 2 127864686 127864686 insertion of <=200bp - GCGA upstream_gene_variant BRCA-EU 2 127866391 127866391 single base substitution T C upstream_gene_variant BRCA-EU 2 127866404 127866404 single base substitution G A upstream_gene_variant BRCA-EU 2 127866781 127866781 single base substitution G A upstream_gene_variant BRCA-EU 2 127867109 127867109 single base substitution C A upstream_gene_variant BRCA-EU 2 127868256 127868256 single base substitution G A upstream_gene_variant BRCA-EU 2 127868957 127868957 single base substitution A T upstream_gene_variant BRCA-EU 2 127869874 127869874 single base substitution C T upstream_gene_variant BRCA-FR 2 127803585 127803585 single base substitution G A downstream_gene_variant BRCA-FR 2 127822645 127822645 single base substitution G A intron_variant BRCA-FR 2 127822645 127822645 single base substitution G A upstream_gene_variant BRCA-FR 2 127833838 127833838 single base substitution C T intron_variant BRCA-FR 2 127844414 127844414 single base substitution C T intron_variant BRCA-FR 2 127855564 127855564 single base substitution T G intron_variant BRCA-FR 2 127856205 127856205 single base substitution C T intron_variant BRCA-FR 2 127857283 127857283 single base substitution G T intron_variant BRCA-FR 2 127858478 127858478 single base substitution C T intron_variant BRCA-FR 2 127863288 127863288 single base substitution G T intron_variant BRCA-FR 2 127868256 127868256 single base substitution G A upstream_gene_variant BRCA-KR 2 127821234 127821234 single base substitution C T intron_variant BRCA-KR 2 127827529 127827529 single base substitution C G intron_variant BRCA-UK 2 127821157 127821157 single base substitution T C exon_variant BRCA-UK 2 127821157 127821157 single base substitution T C missense_variant E224G 671A>G BRCA-UK 2 127821157 127821157 single base substitution T C missense_variant E255G 764A>G BRCA-UK 2 127827112 127827112 single base substitution G C intron_variant BRCA-UK 2 127827112 127827112 single base substitution G C upstream_gene_variant BRCA-UK 2 127837997 127837997 single base substitution G A intron_variant BRCA-UK 2 127859924 127859924 single base substitution G A intron_variant BRCA-UK 2 127867109 127867109 single base substitution C A upstream_gene_variant BRCA-US 2 127806177 127806177 single base substitution G A downstream_gene_variant BRCA-US 2 127806177 127806177 single base substitution G A exon_variant BRCA-US 2 127806177 127806177 single base substitution G A synonymous_variant S385S 1155C>T BRCA-US 2 127806177 127806177 single base substitution G A synonymous_variant S400S 1200C>T BRCA-US 2 127806177 127806177 single base substitution G A synonymous_variant S415S 1245C>T BRCA-US 2 127806177 127806177 single base substitution G A synonymous_variant S430S 1290C>T BRCA-US 2 127806177 127806177 single base substitution G A synonymous_variant S451S 1353C>T BRCA-US 2 127806177 127806177 single base substitution G A synonymous_variant S458S 1374C>T BRCA-US 2 127806177 127806177 single base substitution G A synonymous_variant S473S 1419C>T BRCA-US 2 127806177 127806177 single base substitution G A synonymous_variant S482S 1446C>T BRCA-US 2 127806177 127806177 single base substitution G A synonymous_variant S494S 1482C>T BRCA-US 2 127806177 127806177 single base substitution G A synonymous_variant S526S 1578C>T BRCA-US 2 127806177 127806177 single base substitution G A synonymous_variant S569S 1707C>T BRCA-US 2 127816681 127816681 single base substitution G C exon_variant BRCA-US 2 127816681 127816681 single base substitution G C missense_variant S272C 815C>G BRCA-US 2 127816681 127816681 single base substitution G C missense_variant S287C 860C>G BRCA-US 2 127816681 127816681 single base substitution G C missense_variant S303C 908C>G BRCA-US 2 127816681 127816681 single base substitution G C upstream_gene_variant BRCA-US 2 127827627 127827627 deletion of <=200bp C - frameshift_variant V119 BTCA-JP 2 127816807 127816807 single base substitution C T intron_variant BTCA-JP 2 127816807 127816807 single base substitution C T upstream_gene_variant BTCA-JP 2 127818132 127818132 single base substitution G A intron_variant BTCA-JP 2 127818132 127818132 single base substitution G A upstream_gene_variant BTCA-JP 2 127828321 127828321 single base substitution C T intron_variant BTCA-JP 2 127828343 127828343 single base substitution A T missense_variant V72D 215T>A BTCA-JP 2 127839302 127839302 single base substitution C T intron_variant CESC-US 2 127809887 127809887 single base substitution C G exon_variant CESC-US 2 127809887 127809887 single base substitution C G intron_variant CESC-US 2 127809887 127809887 single base substitution C G missense_variant E321Q 961G>C CESC-US 2 127809887 127809887 single base substitution C G missense_variant E352Q 1054G>C CESC-US 2 127809887 127809887 single base substitution C G missense_variant E364Q 1090G>C CESC-US 2 127809887 127809887 single base substitution C G missense_variant E396Q 1186G>C CESC-US 2 127809887 127809887 single base substitution C G missense_variant E439Q 1315G>C CESC-US 2 127827588 127827588 single base substitution G A stop_gained Q132* 394C>T COAD-US 2 127816632 127816632 single base substitution G A exon_variant COAD-US 2 127816632 127816632 single base substitution G A synonymous_variant A288A 864C>T COAD-US 2 127816632 127816632 single base substitution G A synonymous_variant A303A 909C>T COAD-US 2 127816632 127816632 single base substitution G A synonymous_variant A319A 957C>T COAD-US 2 127816632 127816632 single base substitution G A upstream_gene_variant COAD-US 2 127825801 127825801 deletion of <=200bp G - frameshift_variant Q184 COAD-US 2 127825801 127825801 deletion of <=200bp G - intron_variant COAD-US 2 127825801 127825801 deletion of <=200bp G - upstream_gene_variant COCA-CN 2 127808410 127808410 single base substitution G A exon_variant COCA-CN 2 127808410 127808410 single base substitution G A missense_variant R330C 988C>T COCA-CN 2 127808410 127808410 single base substitution G A missense_variant R345C 1033C>T COCA-CN 2 127808410 127808410 single base substitution G A missense_variant R360C 1078C>T COCA-CN 2 127808410 127808410 single base substitution G A missense_variant R375C 1123C>T COCA-CN 2 127808410 127808410 single base substitution G A missense_variant R396C 1186C>T COCA-CN 2 127808410 127808410 single base substitution G A missense_variant R403C 1207C>T COCA-CN 2 127808410 127808410 single base substitution G A missense_variant R418C 1252C>T COCA-CN 2 127808410 127808410 single base substitution G A missense_variant R427C 1279C>T COCA-CN 2 127808410 127808410 single base substitution G A missense_variant R439C 1315C>T COCA-CN 2 127808410 127808410 single base substitution G A missense_variant R471C 1411C>T COCA-CN 2 127808410 127808410 single base substitution G A missense_variant R514C 1540C>T COCA-CN 2 127816536 127816536 single base substitution G A intron_variant COCA-CN 2 127816536 127816536 single base substitution G A upstream_gene_variant COCA-CN 2 127819830 127819830 single base substitution C A intron_variant COCA-CN 2 127821549 127821549 single base substitution T G exon_variant COCA-CN 2 127821549 127821549 single base substitution T G missense_variant N189H 565A>C COCA-CN 2 127821549 127821549 single base substitution T G missense_variant N220H 658A>C COCA-CN 2 127821630 127821630 single base substitution C T intron_variant COCA-CN 2 127825968 127825968 single base substitution G A intron_variant COCA-CN 2 127825968 127825968 single base substitution G A upstream_gene_variant COCA-CN 2 127827495 127827495 single base substitution C T intron_variant COCA-CN 2 127827495 127827495 single base substitution C T upstream_gene_variant EOPC-DE 2 127839338 127839338 single base substitution C T intron_variant ESAD-UK 2 127800616 127800616 single base substitution C T downstream_gene_variant ESAD-UK 2 127800806 127800806 single base substitution G A downstream_gene_variant ESAD-UK 2 127801647 127801647 single base substitution G A downstream_gene_variant ESAD-UK 2 127805280 127805280 single base substitution G A downstream_gene_variant ESAD-UK 2 127807068 127807068 single base substitution G A downstream_gene_variant ESAD-UK 2 127807068 127807068 single base substitution G A intron_variant ESAD-UK 2 127807902 127807902 single base substitution T G downstream_gene_variant ESAD-UK 2 127807902 127807902 single base substitution T G intron_variant ESAD-UK 2 127811616 127811616 single base substitution G A exon_variant ESAD-UK 2 127811616 127811616 single base substitution G A intron_variant ESAD-UK 2 127814821 127814821 single base substitution C A intron_variant ESAD-UK 2 127814821 127814821 single base substitution C A upstream_gene_variant ESAD-UK 2 127815722 127815722 single base substitution C T intron_variant ESAD-UK 2 127815722 127815722 single base substitution C T upstream_gene_variant ESAD-UK 2 127815885 127815885 single base substitution G T intron_variant ESAD-UK 2 127815885 127815885 single base substitution G T upstream_gene_variant ESAD-UK 2 127816106 127816106 single base substitution C A intron_variant ESAD-UK 2 127816106 127816106 single base substitution C A upstream_gene_variant ESAD-UK 2 127818011 127818011 single base substitution C T intron_variant ESAD-UK 2 127818011 127818011 single base substitution C T upstream_gene_variant ESAD-UK 2 127819103 127819103 single base substitution C T intron_variant ESAD-UK 2 127819798 127819798 deletion of <=200bp G - intron_variant ESAD-UK 2 127822200 127822200 single base substitution C G intron_variant ESAD-UK 2 127822604 127822604 single base substitution C A intron_variant ESAD-UK 2 127822604 127822604 single base substitution C A upstream_gene_variant ESAD-UK 2 127823406 127823406 single base substitution G A intron_variant ESAD-UK 2 127823406 127823406 single base substitution G A upstream_gene_variant ESAD-UK 2 127824471 127824471 single base substitution G A intron_variant ESAD-UK 2 127824471 127824471 single base substitution G A upstream_gene_variant ESAD-UK 2 127826943 127826943 single base substitution T C intron_variant ESAD-UK 2 127826943 127826943 single base substitution T C upstream_gene_variant ESAD-UK 2 127828880 127828880 single base substitution G A intron_variant ESAD-UK 2 127828967 127828967 single base substitution G A intron_variant ESAD-UK 2 127829656 127829656 single base substitution G A intron_variant ESAD-UK 2 127831234 127831234 single base substitution C T intron_variant ESAD-UK 2 127833272 127833272 single base substitution C T intron_variant ESAD-UK 2 127835999 127835999 single base substitution G C intron_variant ESAD-UK 2 127838740 127838740 single base substitution G C intron_variant ESAD-UK 2 127840181 127840181 single base substitution C T intron_variant ESAD-UK 2 127843402 127843402 single base substitution C T intron_variant ESAD-UK 2 127844295 127844295 single base substitution G A intron_variant ESAD-UK 2 127844697 127844697 single base substitution A G intron_variant ESAD-UK 2 127845348 127845348 single base substitution C T intron_variant ESAD-UK 2 127846322 127846322 single base substitution A C intron_variant ESAD-UK 2 127847492 127847492 deletion of <=200bp C - intron_variant ESAD-UK 2 127848978 127848978 single base substitution C T intron_variant ESAD-UK 2 127849586 127849586 single base substitution C T intron_variant ESAD-UK 2 127850394 127850394 single base substitution G T intron_variant ESAD-UK 2 127851128 127851128 single base substitution C T intron_variant ESAD-UK 2 127856239 127856239 single base substitution G A intron_variant ESAD-UK 2 127864684 127864684 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 2 127864684 127864684 single base substitution G A upstream_gene_variant ESAD-UK 2 127864866 127864866 single base substitution G A 5_prime_UTR_variant ESAD-UK 2 127864866 127864866 single base substitution G A upstream_gene_variant ESAD-UK 2 127866494 127866494 single base substitution C T upstream_gene_variant ESCA-CN 2 127816475 127816475 single base substitution A G intron_variant ESCA-CN 2 127816475 127816475 single base substitution A G upstream_gene_variant ESCA-CN 2 127826538 127826538 single base substitution G C missense_variant Q161E 481C>G ESCA-CN 2 127826538 127826538 single base substitution G C upstream_gene_variant ESCA-CN 2 127826632 127826632 single base substitution A G intron_variant ESCA-CN 2 127826632 127826632 single base substitution A G upstream_gene_variant KIRC-US 2 127808049 127808049 single base substitution A C exon_variant KIRC-US 2 127808049 127808049 single base substitution A C missense_variant L357R 1070T>G KIRC-US 2 127808049 127808049 single base substitution A C missense_variant L372R 1115T>G KIRC-US 2 127808049 127808049 single base substitution A C missense_variant L387R 1160T>G KIRC-US 2 127808049 127808049 single base substitution A C missense_variant L402R 1205T>G KIRC-US 2 127808049 127808049 single base substitution A C missense_variant L423R 1268T>G KIRC-US 2 127808049 127808049 single base substitution A C missense_variant L430R 1289T>G KIRC-US 2 127808049 127808049 single base substitution A C missense_variant L445R 1334T>G KIRC-US 2 127808049 127808049 single base substitution A C missense_variant L454R 1361T>G KIRC-US 2 127808049 127808049 single base substitution A C missense_variant L466R 1397T>G KIRC-US 2 127808049 127808049 single base substitution A C missense_variant L498R 1493T>G KIRC-US 2 127808049 127808049 single base substitution A C missense_variant L541R 1622T>G KIRC-US 2 127808049 127808049 single base substitution A T exon_variant KIRC-US 2 127808049 127808049 single base substitution A T missense_variant L357H 1070T>A KIRC-US 2 127808049 127808049 single base substitution A T missense_variant L372H 1115T>A KIRC-US 2 127808049 127808049 single base substitution A T missense_variant L387H 1160T>A KIRC-US 2 127808049 127808049 single base substitution A T missense_variant L402H 1205T>A KIRC-US 2 127808049 127808049 single base substitution A T missense_variant L423H 1268T>A KIRC-US 2 127808049 127808049 single base substitution A T missense_variant L430H 1289T>A KIRC-US 2 127808049 127808049 single base substitution A T missense_variant L445H 1334T>A KIRC-US 2 127808049 127808049 single base substitution A T missense_variant L454H 1361T>A KIRC-US 2 127808049 127808049 single base substitution A T missense_variant L466H 1397T>A KIRC-US 2 127808049 127808049 single base substitution A T missense_variant L498H 1493T>A KIRC-US 2 127808049 127808049 single base substitution A T missense_variant L541H 1622T>A KIRC-US 2 127816686 127816686 single base substitution A C exon_variant KIRC-US 2 127816686 127816686 single base substitution A C missense_variant D270E 810T>G KIRC-US 2 127816686 127816686 single base substitution A C missense_variant D285E 855T>G KIRC-US 2 127816686 127816686 single base substitution A C missense_variant D301E 903T>G KIRC-US 2 127816686 127816686 single base substitution A C upstream_gene_variant KIRP-US 2 127828371 127828371 single base substitution T C missense_variant K63E 187A>G LAML-KR 2 127808127 127808127 single base substitution C G intron_variant LAML-KR 2 127840668 127840668 single base substitution C T intron_variant LGG-US 2 127828379 127828379 single base substitution C T missense_variant R60Q 179G>A LIAD-FR 2 127808476 127808476 single base substitution C A exon_variant LIAD-FR 2 127808476 127808476 single base substitution C A missense_variant A308S 922G>T LIAD-FR 2 127808476 127808476 single base substitution C A missense_variant A323S 967G>T LIAD-FR 2 127808476 127808476 single base substitution C A missense_variant A338S 1012G>T LIAD-FR 2 127808476 127808476 single base substitution C A missense_variant A353S 1057G>T LIAD-FR 2 127808476 127808476 single base substitution C A missense_variant A374S 1120G>T LIAD-FR 2 127808476 127808476 single base substitution C A missense_variant A381S 1141G>T LIAD-FR 2 127808476 127808476 single base substitution C A missense_variant A396S 1186G>T LIAD-FR 2 127808476 127808476 single base substitution C A missense_variant A405S 1213G>T LIAD-FR 2 127808476 127808476 single base substitution C A missense_variant A417S 1249G>T LIAD-FR 2 127808476 127808476 single base substitution C A missense_variant A449S 1345G>T LIAD-FR 2 127808476 127808476 single base substitution C A missense_variant A492S 1474G>T LICA-FR 2 127809911 127809911 single base substitution G A exon_variant LICA-FR 2 127809911 127809911 single base substitution G A intron_variant LICA-FR 2 127809911 127809911 single base substitution G A missense_variant P313S 937C>T LICA-FR 2 127809911 127809911 single base substitution G A missense_variant P344S 1030C>T LICA-FR 2 127809911 127809911 single base substitution G A missense_variant P356S 1066C>T LICA-FR 2 127809911 127809911 single base substitution G A missense_variant P388S 1162C>T LICA-FR 2 127809911 127809911 single base substitution G A missense_variant P431S 1291C>T LICA-FR 2 127827262 127827262 single base substitution A C intron_variant LICA-FR 2 127827262 127827262 single base substitution A C upstream_gene_variant LICA-FR 2 127828389 127828389 single base substitution C A stop_gained E57* 169G>T LICA-FR 2 127835284 127835284 single base substitution C A intron_variant LICA-FR 2 127841444 127841444 single base substitution G A intron_variant LICA-FR 2 127863602 127863602 insertion of <=200bp - CA intron_variant LIHC-US 2 127806198 127806198 single base substitution C T downstream_gene_variant LIHC-US 2 127806198 127806198 single base substitution C T exon_variant LIHC-US 2 127806198 127806198 single base substitution C T stop_gained W378* 1134G>A LIHC-US 2 127806198 127806198 single base substitution C T stop_gained W393* 1179G>A LIHC-US 2 127806198 127806198 single base substitution C T stop_gained W408* 1224G>A LIHC-US 2 127806198 127806198 single base substitution C T stop_gained W423* 1269G>A LIHC-US 2 127806198 127806198 single base substitution C T stop_gained W444* 1332G>A LIHC-US 2 127806198 127806198 single base substitution C T stop_gained W451* 1353G>A LIHC-US 2 127806198 127806198 single base substitution C T stop_gained W466* 1398G>A LIHC-US 2 127806198 127806198 single base substitution C T stop_gained W475* 1425G>A LIHC-US 2 127806198 127806198 single base substitution C T stop_gained W487* 1461G>A LIHC-US 2 127806198 127806198 single base substitution C T stop_gained W519* 1557G>A LIHC-US 2 127806198 127806198 single base substitution C T stop_gained W562* 1686G>A LIHC-US 2 127821169 127821169 deletion of <=200bp T - exon_variant LIHC-US 2 127821169 127821169 deletion of <=200bp T - frameshift_variant N220 LIHC-US 2 127821169 127821169 deletion of <=200bp T - frameshift_variant N251 LINC-JP 2 127818129 127818129 single base substitution G A intron_variant LINC-JP 2 127818129 127818129 single base substitution G A upstream_gene_variant LINC-JP 2 127819855 127819855 single base substitution C T intron_variant LINC-JP 2 127826627 127826627 single base substitution G C intron_variant LINC-JP 2 127826627 127826627 single base substitution G C upstream_gene_variant LINC-JP 2 127833376 127833376 insertion of <=200bp - C intron_variant LINC-JP 2 127833955 127833955 single base substitution T C intron_variant LINC-JP 2 127847375 127847375 single base substitution C T intron_variant LINC-JP 2 127864239 127864239 single base substitution G T intron_variant LINC-JP 2 127867310 127867310 single base substitution T C upstream_gene_variant LIRI-JP 2 127802436 127802436 single base substitution C T downstream_gene_variant LIRI-JP 2 127802475 127802475 single base substitution G A downstream_gene_variant LIRI-JP 2 127804098 127804098 single base substitution G C downstream_gene_variant LIRI-JP 2 127804139 127804139 single base substitution T A downstream_gene_variant LIRI-JP 2 127805266 127805266 single base substitution T A downstream_gene_variant LIRI-JP 2 127808133 127808133 single base substitution G T intron_variant LIRI-JP 2 127812391 127812391 single base substitution A G exon_variant LIRI-JP 2 127812391 127812391 single base substitution A G intron_variant LIRI-JP 2 127820401 127820401 single base substitution G A intron_variant LIRI-JP 2 127822820 127822820 single base substitution G A intron_variant LIRI-JP 2 127822820 127822820 single base substitution G A upstream_gene_variant LIRI-JP 2 127824089 127824089 single base substitution G C intron_variant LIRI-JP 2 127824089 127824089 single base substitution G C upstream_gene_variant LIRI-JP 2 127825703 127825703 single base substitution G A intron_variant LIRI-JP 2 127825703 127825703 single base substitution G A upstream_gene_variant LIRI-JP 2 127828554 127828554 single base substitution C T intron_variant LIRI-JP 2 127831388 127831388 single base substitution A G intron_variant LIRI-JP 2 127834001 127834001 single base substitution A C intron_variant LIRI-JP 2 127835995 127835995 single base substitution C G intron_variant LIRI-JP 2 127837333 127837333 single base substitution A T intron_variant LIRI-JP 2 127837334 127837334 single base substitution C A intron_variant LIRI-JP 2 127838808 127838808 single base substitution G A intron_variant LIRI-JP 2 127844406 127844406 single base substitution C T intron_variant LIRI-JP 2 127849644 127849644 single base substitution C T intron_variant LIRI-JP 2 127849687 127849687 single base substitution C T intron_variant LIRI-JP 2 127852345 127852345 single base substitution C T intron_variant LIRI-JP 2 127859116 127859116 single base substitution G A intron_variant LIRI-JP 2 127859882 127859882 single base substitution G C intron_variant LIRI-JP 2 127859968 127859968 single base substitution T C intron_variant LIRI-JP 2 127860459 127860459 single base substitution A T intron_variant LIRI-JP 2 127861102 127861102 single base substitution G A intron_variant LIRI-JP 2 127862070 127862070 single base substitution G A intron_variant LIRI-JP 2 127862840 127862840 single base substitution A G intron_variant LIRI-JP 2 127862862 127862862 single base substitution T G intron_variant LIRI-JP 2 127863189 127863189 single base substitution G A intron_variant LIRI-JP 2 127867096 127867096 single base substitution G C upstream_gene_variant LIRI-JP 2 127867162 127867162 single base substitution A G upstream_gene_variant LUSC-KR 2 127801171 127801171 single base substitution G T downstream_gene_variant LUSC-KR 2 127810514 127810514 single base substitution C G exon_variant LUSC-KR 2 127810514 127810514 single base substitution C G intron_variant LUSC-KR 2 127815448 127815448 single base substitution G C intron_variant LUSC-KR 2 127815448 127815448 single base substitution G C upstream_gene_variant LUSC-KR 2 127819350 127819350 single base substitution T A intron_variant LUSC-KR 2 127819545 127819545 single base substitution G C intron_variant LUSC-KR 2 127823024 127823024 single base substitution T A intron_variant LUSC-KR 2 127823024 127823024 single base substitution T A upstream_gene_variant LUSC-KR 2 127823334 127823334 single base substitution C T intron_variant LUSC-KR 2 127823334 127823334 single base substitution C T upstream_gene_variant LUSC-KR 2 127823848 127823848 single base substitution C A intron_variant LUSC-KR 2 127823848 127823848 single base substitution C A upstream_gene_variant LUSC-KR 2 127825659 127825659 single base substitution C A intron_variant LUSC-KR 2 127825659 127825659 single base substitution C A upstream_gene_variant LUSC-KR 2 127827232 127827232 single base substitution T A intron_variant LUSC-KR 2 127827232 127827232 single base substitution T A upstream_gene_variant LUSC-KR 2 127829497 127829497 single base substitution C T intron_variant LUSC-KR 2 127834158 127834158 single base substitution G A intron_variant LUSC-KR 2 127841927 127841927 single base substitution A C intron_variant LUSC-KR 2 127841979 127841979 single base substitution C A intron_variant LUSC-KR 2 127845552 127845552 single base substitution C A intron_variant LUSC-KR 2 127849630 127849630 single base substitution T C intron_variant LUSC-KR 2 127849636 127849636 single base substitution C A intron_variant LUSC-KR 2 127849999 127849999 single base substitution C A intron_variant LUSC-KR 2 127850846 127850846 single base substitution C G intron_variant LUSC-KR 2 127851623 127851623 single base substitution C A intron_variant LUSC-KR 2 127853900 127853900 single base substitution C A intron_variant LUSC-KR 2 127854940 127854940 single base substitution T C intron_variant LUSC-KR 2 127855179 127855179 single base substitution T A intron_variant LUSC-KR 2 127860454 127860454 single base substitution G C intron_variant LUSC-KR 2 127862978 127862978 single base substitution C T intron_variant LUSC-KR 2 127864942 127864942 single base substitution G C upstream_gene_variant MALY-DE 2 127813098 127813098 single base substitution G A exon_variant MALY-DE 2 127813098 127813098 single base substitution G A intron_variant MALY-DE 2 127814019 127814019 single base substitution G A exon_variant MALY-DE 2 127814019 127814019 single base substitution G A intron_variant MALY-DE 2 127821698 127821698 single base substitution G C intron_variant MALY-DE 2 127822388 127822388 single base substitution G C exon_variant MALY-DE 2 127822388 127822388 single base substitution G C intron_variant MALY-DE 2 127822388 127822388 single base substitution G C upstream_gene_variant MALY-DE 2 127824576 127824576 single base substitution A C intron_variant MALY-DE 2 127824576 127824576 single base substitution A C upstream_gene_variant MALY-DE 2 127828691 127828691 single base substitution G A intron_variant MALY-DE 2 127835769 127835769 single base substitution A C intron_variant MALY-DE 2 127835773 127835773 single base substitution A C intron_variant MALY-DE 2 127836017 127836017 single base substitution A C intron_variant MALY-DE 2 127839240 127839240 single base substitution A C intron_variant MALY-DE 2 127842177 127842177 insertion of <=200bp - T intron_variant MALY-DE 2 127849850 127849850 single base substitution A G intron_variant MALY-DE 2 127856927 127856928 deletion of <=200bp TG - intron_variant MALY-DE 2 127857867 127857867 single base substitution C T intron_variant MELA-AU 2 127800691 127800691 single base substitution C T downstream_gene_variant MELA-AU 2 127800882 127800882 single base substitution C T downstream_gene_variant MELA-AU 2 127800893 127800893 single base substitution C T downstream_gene_variant MELA-AU 2 127801728 127801728 single base substitution C T downstream_gene_variant MELA-AU 2 127802093 127802093 single base substitution T C downstream_gene_variant MELA-AU 2 127802421 127802421 single base substitution C T downstream_gene_variant MELA-AU 2 127802626 127802626 single base substitution C A downstream_gene_variant MELA-AU 2 127803038 127803038 single base substitution G A downstream_gene_variant MELA-AU 2 127803140 127803140 single base substitution C T downstream_gene_variant MELA-AU 2 127803791 127803791 single base substitution G T downstream_gene_variant MELA-AU 2 127803946 127803946 single base substitution G A downstream_gene_variant MELA-AU 2 127804109 127804109 single base substitution G A downstream_gene_variant MELA-AU 2 127804600 127804600 single base substitution G A downstream_gene_variant MELA-AU 2 127804766 127804766 single base substitution C T downstream_gene_variant MELA-AU 2 127804786 127804786 single base substitution G A downstream_gene_variant MELA-AU 2 127805775 127805775 single base substitution G A 3_prime_UTR_variant MELA-AU 2 127805775 127805775 single base substitution G A downstream_gene_variant MELA-AU 2 127805775 127805775 single base substitution G A exon_variant MELA-AU 2 127805945 127805945 single base substitution C T 3_prime_UTR_variant MELA-AU 2 127805945 127805945 single base substitution C T downstream_gene_variant MELA-AU 2 127805945 127805945 single base substitution C T exon_variant MELA-AU 2 127805955 127805955 single base substitution G A 3_prime_UTR_variant MELA-AU 2 127805955 127805955 single base substitution G A downstream_gene_variant MELA-AU 2 127805955 127805955 single base substitution G A exon_variant MELA-AU 2 127806020 127806020 single base substitution G A 3_prime_UTR_variant MELA-AU 2 127806020 127806020 single base substitution G A downstream_gene_variant MELA-AU 2 127806020 127806020 single base substitution G A exon_variant MELA-AU 2 127806071 127806071 single base substitution C T 3_prime_UTR_variant MELA-AU 2 127806071 127806071 single base substitution C T downstream_gene_variant MELA-AU 2 127806071 127806071 single base substitution C T exon_variant MELA-AU 2 127806448 127806448 single base substitution C T downstream_gene_variant MELA-AU 2 127806448 127806448 single base substitution C T intron_variant MELA-AU 2 127807073 127807073 single base substitution C T downstream_gene_variant MELA-AU 2 127807073 127807073 single base substitution C T intron_variant MELA-AU 2 127807187 127807187 single base substitution C T downstream_gene_variant MELA-AU 2 127807187 127807187 single base substitution C T intron_variant MELA-AU 2 127807483 127807483 single base substitution G A downstream_gene_variant MELA-AU 2 127807483 127807483 single base substitution G A intron_variant MELA-AU 2 127807730 127807731 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 127807730 127807731 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 127808116 127808116 single base substitution C T intron_variant MELA-AU 2 127808123 127808123 single base substitution C A intron_variant MELA-AU 2 127808196 127808196 single base substitution G A intron_variant MELA-AU 2 127808387 127808387 single base substitution G A exon_variant MELA-AU 2 127808387 127808387 single base substitution G A synonymous_variant F337F 1011C>T MELA-AU 2 127808387 127808387 single base substitution G A synonymous_variant F352F 1056C>T MELA-AU 2 127808387 127808387 single base substitution G A synonymous_variant F367F 1101C>T MELA-AU 2 127808387 127808387 single base substitution G A synonymous_variant F382F 1146C>T MELA-AU 2 127808387 127808387 single base substitution G A synonymous_variant F403F 1209C>T MELA-AU 2 127808387 127808387 single base substitution G A synonymous_variant F410F 1230C>T MELA-AU 2 127808387 127808387 single base substitution G A synonymous_variant F425F 1275C>T MELA-AU 2 127808387 127808387 single base substitution G A synonymous_variant F434F 1302C>T MELA-AU 2 127808387 127808387 single base substitution G A synonymous_variant F446F 1338C>T MELA-AU 2 127808387 127808387 single base substitution G A synonymous_variant F478F 1434C>T MELA-AU 2 127808387 127808387 single base substitution G A synonymous_variant F521F 1563C>T MELA-AU 2 127808401 127808401 single base substitution G A exon_variant MELA-AU 2 127808401 127808401 single base substitution G A synonymous_variant L333L 997C>T MELA-AU 2 127808401 127808401 single base substitution G A synonymous_variant L348L 1042C>T MELA-AU 2 127808401 127808401 single base substitution G A synonymous_variant L363L 1087C>T MELA-AU 2 127808401 127808401 single base substitution G A synonymous_variant L378L 1132C>T MELA-AU 2 127808401 127808401 single base substitution G A synonymous_variant L399L 1195C>T MELA-AU 2 127808401 127808401 single base substitution G A synonymous_variant L406L 1216C>T MELA-AU 2 127808401 127808401 single base substitution G A synonymous_variant L421L 1261C>T MELA-AU 2 127808401 127808401 single base substitution G A synonymous_variant L430L 1288C>T MELA-AU 2 127808401 127808401 single base substitution G A synonymous_variant L442L 1324C>T MELA-AU 2 127808401 127808401 single base substitution G A synonymous_variant L474L 1420C>T MELA-AU 2 127808401 127808401 single base substitution G A synonymous_variant L517L 1549C>T MELA-AU 2 127808526 127808526 single base substitution G A intron_variant MELA-AU 2 127808717 127808717 single base substitution C T intron_variant MELA-AU 2 127808878 127808878 single base substitution G A intron_variant MELA-AU 2 127809166 127809166 single base substitution C T intron_variant MELA-AU 2 127809753 127809753 single base substitution C T intron_variant MELA-AU 2 127810042 127810042 single base substitution G A exon_variant MELA-AU 2 127810042 127810042 single base substitution G A intron_variant MELA-AU 2 127810108 127810108 single base substitution C T exon_variant MELA-AU 2 127810108 127810108 single base substitution C T intron_variant MELA-AU 2 127811094 127811094 single base substitution G A exon_variant MELA-AU 2 127811094 127811094 single base substitution G A intron_variant MELA-AU 2 127811095 127811095 single base substitution G A exon_variant MELA-AU 2 127811095 127811095 single base substitution G A intron_variant MELA-AU 2 127811106 127811106 single base substitution C T exon_variant MELA-AU 2 127811106 127811106 single base substitution C T intron_variant MELA-AU 2 127812163 127812163 single base substitution C T exon_variant MELA-AU 2 127812163 127812163 single base substitution C T intron_variant MELA-AU 2 127812206 127812207 multiple base substitution (>=2bp and <=200bp) GC AA exon_variant MELA-AU 2 127812206 127812207 multiple base substitution (>=2bp and <=200bp) GC AA intron_variant MELA-AU 2 127812231 127812231 single base substitution A G exon_variant MELA-AU 2 127812231 127812231 single base substitution A G intron_variant MELA-AU 2 127812369 127812369 single base substitution G A exon_variant MELA-AU 2 127812369 127812369 single base substitution G A intron_variant MELA-AU 2 127812373 127812373 single base substitution C T exon_variant MELA-AU 2 127812373 127812373 single base substitution C T intron_variant MELA-AU 2 127812434 127812434 single base substitution G A exon_variant MELA-AU 2 127812434 127812434 single base substitution G A intron_variant MELA-AU 2 127812642 127812642 single base substitution C T exon_variant MELA-AU 2 127812642 127812642 single base substitution C T intron_variant MELA-AU 2 127812648 127812648 single base substitution G C exon_variant MELA-AU 2 127812648 127812648 single base substitution G C intron_variant MELA-AU 2 127813141 127813141 single base substitution T C exon_variant MELA-AU 2 127813141 127813141 single base substitution T C intron_variant MELA-AU 2 127813151 127813151 single base substitution C T exon_variant MELA-AU 2 127813151 127813151 single base substitution C T intron_variant MELA-AU 2 127813212 127813212 single base substitution C T exon_variant MELA-AU 2 127813212 127813212 single base substitution C T intron_variant MELA-AU 2 127813250 127813250 single base substitution C T exon_variant MELA-AU 2 127813250 127813250 single base substitution C T intron_variant MELA-AU 2 127813254 127813254 single base substitution C T exon_variant MELA-AU 2 127813254 127813254 single base substitution C T intron_variant MELA-AU 2 127813441 127813441 single base substitution C T exon_variant MELA-AU 2 127813441 127813441 single base substitution C T intron_variant MELA-AU 2 127813607 127813607 single base substitution C A exon_variant MELA-AU 2 127813607 127813607 single base substitution C A intron_variant MELA-AU 2 127813834 127813834 single base substitution G A exon_variant MELA-AU 2 127813834 127813834 single base substitution G A intron_variant MELA-AU 2 127814288 127814289 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 127814288 127814289 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 127814291 127814291 single base substitution G A intron_variant MELA-AU 2 127814291 127814291 single base substitution G A upstream_gene_variant MELA-AU 2 127814294 127814294 single base substitution G A intron_variant MELA-AU 2 127814294 127814294 single base substitution G A upstream_gene_variant MELA-AU 2 127814613 127814613 single base substitution G A intron_variant MELA-AU 2 127814613 127814613 single base substitution G A upstream_gene_variant MELA-AU 2 127814726 127814726 single base substitution G A intron_variant MELA-AU 2 127814726 127814726 single base substitution G A upstream_gene_variant MELA-AU 2 127814829 127814829 single base substitution C T intron_variant MELA-AU 2 127814829 127814829 single base substitution C T upstream_gene_variant MELA-AU 2 127814926 127814926 single base substitution G A intron_variant MELA-AU 2 127814926 127814926 single base substitution G A upstream_gene_variant MELA-AU 2 127814979 127814979 single base substitution G A intron_variant MELA-AU 2 127814979 127814979 single base substitution G A upstream_gene_variant MELA-AU 2 127814980 127814980 single base substitution G A intron_variant MELA-AU 2 127814980 127814980 single base substitution G A upstream_gene_variant MELA-AU 2 127815019 127815019 single base substitution G A intron_variant MELA-AU 2 127815019 127815019 single base substitution G A upstream_gene_variant MELA-AU 2 127815186 127815186 single base substitution C T intron_variant MELA-AU 2 127815186 127815186 single base substitution C T upstream_gene_variant MELA-AU 2 127815289 127815289 single base substitution C T intron_variant MELA-AU 2 127815289 127815289 single base substitution C T upstream_gene_variant MELA-AU 2 127815545 127815545 single base substitution G A intron_variant MELA-AU 2 127815545 127815545 single base substitution G A upstream_gene_variant MELA-AU 2 127815713 127815713 single base substitution G A intron_variant MELA-AU 2 127815713 127815713 single base substitution G A upstream_gene_variant MELA-AU 2 127816290 127816290 single base substitution A C intron_variant MELA-AU 2 127816290 127816290 single base substitution A C upstream_gene_variant MELA-AU 2 127816308 127816308 single base substitution C T intron_variant MELA-AU 2 127816308 127816308 single base substitution C T upstream_gene_variant MELA-AU 2 127816423 127816423 single base substitution G A intron_variant MELA-AU 2 127816423 127816423 single base substitution G A upstream_gene_variant MELA-AU 2 127816536 127816537 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 127816536 127816537 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 127816678 127816678 single base substitution G A exon_variant MELA-AU 2 127816678 127816678 single base substitution G A missense_variant P273L 818C>T MELA-AU 2 127816678 127816678 single base substitution G A missense_variant P288L 863C>T MELA-AU 2 127816678 127816678 single base substitution G A missense_variant P304L 911C>T MELA-AU 2 127816678 127816678 single base substitution G A upstream_gene_variant MELA-AU 2 127816753 127816753 single base substitution G A intron_variant MELA-AU 2 127816753 127816753 single base substitution G A upstream_gene_variant MELA-AU 2 127816806 127816807 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 2 127816806 127816807 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 2 127816999 127816999 single base substitution G A intron_variant MELA-AU 2 127816999 127816999 single base substitution G A upstream_gene_variant MELA-AU 2 127817347 127817347 single base substitution G A intron_variant MELA-AU 2 127817347 127817347 single base substitution G A upstream_gene_variant MELA-AU 2 127818213 127818213 single base substitution C T intron_variant MELA-AU 2 127818213 127818213 single base substitution C T synonymous_variant K256K 768G>A MELA-AU 2 127818213 127818213 single base substitution C T upstream_gene_variant MELA-AU 2 127818238 127818238 single base substitution G A intron_variant MELA-AU 2 127818238 127818238 single base substitution G A upstream_gene_variant MELA-AU 2 127818425 127818425 single base substitution G A intron_variant MELA-AU 2 127818425 127818425 single base substitution G A upstream_gene_variant MELA-AU 2 127818634 127818634 single base substitution G A intron_variant MELA-AU 2 127818634 127818634 single base substitution G A upstream_gene_variant MELA-AU 2 127819408 127819408 single base substitution G A intron_variant MELA-AU 2 127819428 127819428 single base substitution G A intron_variant MELA-AU 2 127819432 127819432 single base substitution G A intron_variant MELA-AU 2 127819597 127819597 single base substitution G A intron_variant MELA-AU 2 127819737 127819738 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 127819737 127819738 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant LE239LK MELA-AU 2 127819737 127819738 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant LE270LK MELA-AU 2 127819799 127819799 single base substitution G A intron_variant MELA-AU 2 127819836 127819836 single base substitution C T intron_variant MELA-AU 2 127820018 127820018 single base substitution C T intron_variant MELA-AU 2 127820234 127820234 single base substitution C T intron_variant MELA-AU 2 127820325 127820325 single base substitution A T intron_variant MELA-AU 2 127820450 127820450 single base substitution G A intron_variant MELA-AU 2 127820751 127820751 single base substitution C T intron_variant MELA-AU 2 127820984 127820984 single base substitution C T intron_variant MELA-AU 2 127821007 127821007 single base substitution G A intron_variant MELA-AU 2 127821070 127821070 single base substitution C A intron_variant MELA-AU 2 127821173 127821173 single base substitution C T exon_variant MELA-AU 2 127821173 127821173 single base substitution C T missense_variant E219K 655G>A MELA-AU 2 127821173 127821173 single base substitution C T missense_variant E250K 748G>A MELA-AU 2 127821443 127821443 single base substitution A G intron_variant MELA-AU 2 127822506 127822506 single base substitution C T intron_variant MELA-AU 2 127822506 127822506 single base substitution C T upstream_gene_variant MELA-AU 2 127822559 127822559 single base substitution G A intron_variant MELA-AU 2 127822559 127822559 single base substitution G A upstream_gene_variant MELA-AU 2 127822875 127822875 single base substitution G A intron_variant MELA-AU 2 127822875 127822875 single base substitution G A upstream_gene_variant MELA-AU 2 127822909 127822909 single base substitution A G intron_variant MELA-AU 2 127822909 127822909 single base substitution A G upstream_gene_variant MELA-AU 2 127823231 127823231 single base substitution G A intron_variant MELA-AU 2 127823231 127823231 single base substitution G A upstream_gene_variant MELA-AU 2 127823688 127823688 single base substitution C T intron_variant MELA-AU 2 127823688 127823688 single base substitution C T upstream_gene_variant MELA-AU 2 127823729 127823729 single base substitution C T intron_variant MELA-AU 2 127823729 127823729 single base substitution C T upstream_gene_variant MELA-AU 2 127823769 127823769 single base substitution C T intron_variant MELA-AU 2 127823769 127823769 single base substitution C T upstream_gene_variant MELA-AU 2 127823856 127823856 single base substitution G A intron_variant MELA-AU 2 127823856 127823856 single base substitution G A upstream_gene_variant MELA-AU 2 127823970 127823970 single base substitution G A intron_variant MELA-AU 2 127823970 127823970 single base substitution G A upstream_gene_variant MELA-AU 2 127824028 127824028 single base substitution C T intron_variant MELA-AU 2 127824028 127824028 single base substitution C T upstream_gene_variant MELA-AU 2 127824073 127824073 single base substitution C T intron_variant MELA-AU 2 127824073 127824073 single base substitution C T upstream_gene_variant MELA-AU 2 127824077 127824077 single base substitution G A intron_variant MELA-AU 2 127824077 127824077 single base substitution G A upstream_gene_variant MELA-AU 2 127824120 127824120 single base substitution C T intron_variant MELA-AU 2 127824120 127824120 single base substitution C T upstream_gene_variant MELA-AU 2 127824557 127824557 single base substitution G A intron_variant MELA-AU 2 127824557 127824557 single base substitution G A upstream_gene_variant MELA-AU 2 127825252 127825252 single base substitution A G intron_variant MELA-AU 2 127825252 127825252 single base substitution A G upstream_gene_variant MELA-AU 2 127825511 127825511 single base substitution G A intron_variant MELA-AU 2 127825511 127825511 single base substitution G A upstream_gene_variant MELA-AU 2 127826057 127826057 single base substitution G A intron_variant MELA-AU 2 127826057 127826057 single base substitution G A upstream_gene_variant MELA-AU 2 127826376 127826376 single base substitution C T intron_variant MELA-AU 2 127826376 127826376 single base substitution C T upstream_gene_variant MELA-AU 2 127826432 127826432 single base substitution G A intron_variant MELA-AU 2 127826432 127826432 single base substitution G A upstream_gene_variant MELA-AU 2 127826657 127826657 single base substitution G A intron_variant MELA-AU 2 127826657 127826657 single base substitution G A upstream_gene_variant MELA-AU 2 127826684 127826684 single base substitution G A intron_variant MELA-AU 2 127826684 127826684 single base substitution G A upstream_gene_variant MELA-AU 2 127827065 127827066 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 127827065 127827066 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 127827461 127827461 single base substitution C T intron_variant MELA-AU 2 127827461 127827461 single base substitution C T upstream_gene_variant MELA-AU 2 127827527 127827527 single base substitution C T intron_variant MELA-AU 2 127827700 127827700 single base substitution G A intron_variant MELA-AU 2 127828051 127828051 single base substitution G A intron_variant MELA-AU 2 127828120 127828120 single base substitution C T intron_variant MELA-AU 2 127828152 127828152 single base substitution C T missense_variant D98N 292G>A MELA-AU 2 127828238 127828238 single base substitution G A intron_variant MELA-AU 2 127828239 127828239 single base substitution G A intron_variant MELA-AU 2 127828402 127828402 single base substitution G A intron_variant MELA-AU 2 127828415 127828415 single base substitution C T intron_variant MELA-AU 2 127829593 127829593 single base substitution C T intron_variant MELA-AU 2 127829655 127829655 single base substitution G A intron_variant MELA-AU 2 127829980 127829980 single base substitution G A intron_variant MELA-AU 2 127830399 127830399 single base substitution G A intron_variant MELA-AU 2 127831005 127831005 single base substitution C A intron_variant MELA-AU 2 127831206 127831206 single base substitution G A intron_variant MELA-AU 2 127831374 127831374 single base substitution G A intron_variant MELA-AU 2 127831500 127831500 single base substitution G A intron_variant MELA-AU 2 127831619 127831619 single base substitution C T intron_variant MELA-AU 2 127834134 127834134 single base substitution C T intron_variant MELA-AU 2 127835010 127835010 single base substitution G A intron_variant MELA-AU 2 127835632 127835632 single base substitution G T intron_variant MELA-AU 2 127835906 127835906 single base substitution G A intron_variant MELA-AU 2 127836044 127836044 single base substitution T A intron_variant MELA-AU 2 127836364 127836364 single base substitution G T intron_variant MELA-AU 2 127836443 127836443 single base substitution C T intron_variant MELA-AU 2 127836806 127836806 single base substitution C T intron_variant MELA-AU 2 127836832 127836832 single base substitution G A intron_variant MELA-AU 2 127837578 127837578 single base substitution G A intron_variant MELA-AU 2 127837758 127837758 single base substitution G A intron_variant MELA-AU 2 127837803 127837803 single base substitution A C intron_variant MELA-AU 2 127838031 127838031 single base substitution G A intron_variant MELA-AU 2 127838347 127838347 single base substitution G A intron_variant MELA-AU 2 127838700 127838700 single base substitution C T intron_variant MELA-AU 2 127838747 127838747 single base substitution G A intron_variant MELA-AU 2 127838757 127838757 single base substitution G A intron_variant MELA-AU 2 127838758 127838758 single base substitution G A intron_variant MELA-AU 2 127839116 127839116 single base substitution G A intron_variant MELA-AU 2 127839132 127839133 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 127839180 127839180 single base substitution G A intron_variant MELA-AU 2 127839603 127839603 single base substitution G A intron_variant MELA-AU 2 127839660 127839660 single base substitution G T intron_variant MELA-AU 2 127839996 127839996 single base substitution G A intron_variant MELA-AU 2 127840423 127840423 single base substitution A G intron_variant MELA-AU 2 127840473 127840473 single base substitution G A intron_variant MELA-AU 2 127840488 127840488 single base substitution C A intron_variant MELA-AU 2 127840515 127840515 single base substitution C A intron_variant MELA-AU 2 127840721 127840721 single base substitution G A intron_variant MELA-AU 2 127840900 127840900 single base substitution C T intron_variant MELA-AU 2 127840900 127840901 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 127841247 127841247 single base substitution T C intron_variant MELA-AU 2 127841591 127841591 single base substitution C T intron_variant MELA-AU 2 127841667 127841667 single base substitution C T intron_variant MELA-AU 2 127841694 127841694 single base substitution G A intron_variant MELA-AU 2 127841868 127841868 single base substitution C T intron_variant MELA-AU 2 127841918 127841918 single base substitution G A intron_variant MELA-AU 2 127842122 127842122 single base substitution C T intron_variant MELA-AU 2 127842777 127842777 single base substitution G A intron_variant MELA-AU 2 127842983 127842983 single base substitution C T intron_variant MELA-AU 2 127843114 127843114 single base substitution G A intron_variant MELA-AU 2 127843162 127843162 single base substitution G A intron_variant MELA-AU 2 127843466 127843466 single base substitution C T intron_variant MELA-AU 2 127843631 127843631 single base substitution C T intron_variant MELA-AU 2 127844070 127844070 single base substitution G A intron_variant MELA-AU 2 127844178 127844178 single base substitution G A intron_variant MELA-AU 2 127844632 127844632 single base substitution G A intron_variant MELA-AU 2 127845393 127845393 single base substitution A G intron_variant MELA-AU 2 127845398 127845398 single base substitution G A intron_variant MELA-AU 2 127845437 127845438 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 127845614 127845614 single base substitution G A intron_variant MELA-AU 2 127845677 127845677 single base substitution G A intron_variant MELA-AU 2 127846345 127846345 single base substitution G A intron_variant MELA-AU 2 127846359 127846359 single base substitution G A intron_variant MELA-AU 2 127846577 127846577 single base substitution G A intron_variant MELA-AU 2 127846583 127846583 single base substitution G A intron_variant MELA-AU 2 127846726 127846726 single base substitution C T intron_variant MELA-AU 2 127847055 127847055 single base substitution A T intron_variant MELA-AU 2 127847125 127847125 single base substitution G A intron_variant MELA-AU 2 127847525 127847525 single base substitution C T intron_variant MELA-AU 2 127848026 127848026 single base substitution C T intron_variant MELA-AU 2 127848206 127848206 single base substitution G A intron_variant MELA-AU 2 127848307 127848307 single base substitution G A intron_variant MELA-AU 2 127848339 127848339 single base substitution C T intron_variant MELA-AU 2 127848596 127848596 single base substitution C T intron_variant MELA-AU 2 127848749 127848749 single base substitution G A intron_variant MELA-AU 2 127848786 127848786 single base substitution C T intron_variant MELA-AU 2 127848800 127848800 single base substitution G A intron_variant MELA-AU 2 127848841 127848841 single base substitution C T intron_variant MELA-AU 2 127849212 127849212 single base substitution C T intron_variant MELA-AU 2 127849311 127849311 single base substitution A T intron_variant MELA-AU 2 127849504 127849504 single base substitution T G intron_variant MELA-AU 2 127849532 127849532 single base substitution G A intron_variant MELA-AU 2 127849715 127849715 single base substitution C T intron_variant MELA-AU 2 127849760 127849761 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 127849897 127849897 single base substitution G A intron_variant MELA-AU 2 127850333 127850333 single base substitution C T intron_variant MELA-AU 2 127850372 127850372 single base substitution G A intron_variant MELA-AU 2 127850529 127850530 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 127850587 127850587 single base substitution G A intron_variant MELA-AU 2 127850705 127850705 single base substitution G A intron_variant MELA-AU 2 127850745 127850745 single base substitution A C intron_variant MELA-AU 2 127850877 127850877 single base substitution C T intron_variant MELA-AU 2 127851018 127851018 single base substitution C T intron_variant MELA-AU 2 127851019 127851019 single base substitution C T intron_variant MELA-AU 2 127851123 127851123 single base substitution C T intron_variant MELA-AU 2 127851411 127851411 single base substitution C T intron_variant MELA-AU 2 127851694 127851694 single base substitution C T intron_variant MELA-AU 2 127852292 127852292 single base substitution C T intron_variant MELA-AU 2 127852451 127852451 single base substitution G A intron_variant MELA-AU 2 127852710 127852710 single base substitution C T intron_variant MELA-AU 2 127852781 127852781 single base substitution C T intron_variant MELA-AU 2 127852821 127852821 single base substitution G T intron_variant MELA-AU 2 127852914 127852914 single base substitution C T intron_variant MELA-AU 2 127852964 127852964 single base substitution G A intron_variant MELA-AU 2 127853119 127853119 single base substitution C T intron_variant MELA-AU 2 127853280 127853280 single base substitution G A intron_variant MELA-AU 2 127853332 127853332 single base substitution G A intron_variant MELA-AU 2 127854200 127854200 single base substitution G A intron_variant MELA-AU 2 127854225 127854225 single base substitution C T intron_variant MELA-AU 2 127854981 127854981 single base substitution G A intron_variant MELA-AU 2 127855254 127855254 single base substitution C T intron_variant MELA-AU 2 127855554 127855554 single base substitution G A intron_variant MELA-AU 2 127855567 127855567 single base substitution G A intron_variant MELA-AU 2 127855692 127855692 single base substitution G T intron_variant MELA-AU 2 127855736 127855736 single base substitution G A intron_variant MELA-AU 2 127855823 127855823 single base substitution G A intron_variant MELA-AU 2 127855825 127855825 single base substitution G A intron_variant MELA-AU 2 127856447 127856448 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 127856582 127856582 single base substitution G A intron_variant MELA-AU 2 127856768 127856768 single base substitution C T intron_variant MELA-AU 2 127857005 127857005 single base substitution A C intron_variant MELA-AU 2 127857300 127857300 single base substitution G A intron_variant MELA-AU 2 127857488 127857488 single base substitution T C intron_variant MELA-AU 2 127857622 127857622 single base substitution C T intron_variant MELA-AU 2 127858134 127858134 single base substitution G A intron_variant MELA-AU 2 127858540 127858540 single base substitution G A intron_variant MELA-AU 2 127858581 127858581 single base substitution G C intron_variant MELA-AU 2 127858869 127858870 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 127859038 127859038 single base substitution G A intron_variant MELA-AU 2 127859497 127859497 single base substitution G A intron_variant MELA-AU 2 127859525 127859525 single base substitution G A intron_variant MELA-AU 2 127859860 127859860 single base substitution C T intron_variant MELA-AU 2 127859902 127859902 single base substitution G A intron_variant MELA-AU 2 127859972 127859972 single base substitution G A intron_variant MELA-AU 2 127860243 127860243 single base substitution G A intron_variant MELA-AU 2 127860522 127860522 single base substitution G A intron_variant MELA-AU 2 127860598 127860598 single base substitution G A intron_variant MELA-AU 2 127861039 127861039 single base substitution G A intron_variant MELA-AU 2 127861095 127861095 single base substitution G A intron_variant MELA-AU 2 127861099 127861099 single base substitution G A intron_variant MELA-AU 2 127861389 127861389 single base substitution G A intron_variant MELA-AU 2 127861431 127861431 single base substitution G A intron_variant MELA-AU 2 127861432 127861432 single base substitution G A intron_variant MELA-AU 2 127861613 127861613 single base substitution G A intron_variant MELA-AU 2 127862049 127862049 single base substitution G A intron_variant MELA-AU 2 127862151 127862151 single base substitution G A intron_variant MELA-AU 2 127862235 127862235 single base substitution C T intron_variant MELA-AU 2 127863013 127863014 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 127863082 127863082 single base substitution C T intron_variant MELA-AU 2 127863251 127863251 single base substitution C T intron_variant MELA-AU 2 127863648 127863648 single base substitution G A intron_variant MELA-AU 2 127863837 127863837 single base substitution G A intron_variant MELA-AU 2 127863854 127863854 single base substitution A T intron_variant MELA-AU 2 127863987 127863987 single base substitution C T intron_variant MELA-AU 2 127864309 127864309 single base substitution C T intron_variant MELA-AU 2 127864356 127864357 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 2 127864475 127864475 single base substitution G A synonymous_variant A15A 45C>T MELA-AU 2 127864858 127864858 single base substitution G A 5_prime_UTR_variant MELA-AU 2 127864858 127864858 single base substitution G A upstream_gene_variant MELA-AU 2 127865854 127865854 single base substitution G A upstream_gene_variant MELA-AU 2 127866384 127866384 single base substitution C T upstream_gene_variant MELA-AU 2 127866519 127866519 single base substitution C T upstream_gene_variant MELA-AU 2 127866522 127866522 single base substitution G A upstream_gene_variant MELA-AU 2 127867427 127867427 single base substitution G A upstream_gene_variant MELA-AU 2 127867518 127867518 single base substitution G A upstream_gene_variant MELA-AU 2 127867773 127867773 single base substitution T G upstream_gene_variant MELA-AU 2 127867849 127867849 single base substitution G A upstream_gene_variant MELA-AU 2 127867904 127867904 single base substitution G A upstream_gene_variant MELA-AU 2 127868128 127868128 single base substitution G A upstream_gene_variant MELA-AU 2 127868603 127868603 single base substitution G A upstream_gene_variant MELA-AU 2 127869616 127869616 single base substitution C T upstream_gene_variant MELA-AU 2 127869771 127869771 single base substitution C T upstream_gene_variant ORCA-IN 2 127806798 127806798 single base substitution C T downstream_gene_variant ORCA-IN 2 127806798 127806798 single base substitution C T intron_variant ORCA-IN 2 127819428 127819428 single base substitution G A intron_variant ORCA-IN 2 127832127 127832127 single base substitution G A intron_variant ORCA-IN 2 127860274 127860274 single base substitution C A intron_variant OV-AU 2 127800771 127800771 single base substitution G C downstream_gene_variant OV-AU 2 127804368 127804368 single base substitution T G downstream_gene_variant OV-AU 2 127807869 127807869 single base substitution G T downstream_gene_variant OV-AU 2 127807869 127807869 single base substitution G T intron_variant OV-AU 2 127812481 127812481 single base substitution G A exon_variant OV-AU 2 127812481 127812481 single base substitution G A intron_variant OV-AU 2 127813913 127813913 single base substitution C A exon_variant OV-AU 2 127813913 127813913 single base substitution C A intron_variant OV-AU 2 127815233 127815233 single base substitution T G intron_variant OV-AU 2 127815233 127815233 single base substitution T G upstream_gene_variant OV-AU 2 127815865 127815865 single base substitution T A intron_variant OV-AU 2 127815865 127815865 single base substitution T A upstream_gene_variant OV-AU 2 127818187 127818187 single base substitution C G intron_variant OV-AU 2 127818187 127818187 single base substitution C G missense_variant R265P 794G>C OV-AU 2 127818187 127818187 single base substitution C G upstream_gene_variant OV-AU 2 127822140 127822140 single base substitution C G intron_variant OV-AU 2 127822400 127822400 single base substitution G A exon_variant OV-AU 2 127822400 127822400 single base substitution G A intron_variant OV-AU 2 127822400 127822400 single base substitution G A upstream_gene_variant OV-AU 2 127830304 127830304 single base substitution T A intron_variant OV-AU 2 127831060 127831060 single base substitution C G intron_variant OV-AU 2 127832940 127832940 single base substitution G A intron_variant OV-AU 2 127833889 127833889 single base substitution C T intron_variant OV-AU 2 127838306 127838306 single base substitution A G intron_variant OV-AU 2 127842761 127842761 single base substitution G C intron_variant OV-AU 2 127842961 127842961 single base substitution C G intron_variant OV-AU 2 127843646 127843646 single base substitution G A intron_variant OV-AU 2 127843650 127843650 single base substitution G A intron_variant OV-AU 2 127855003 127855003 single base substitution C T intron_variant OV-US 2 127827574 127827574 single base substitution G T synonymous_variant I136I 408C>A PACA-AU 2 127801637 127801637 single base substitution A C downstream_gene_variant PACA-AU 2 127803439 127803439 single base substitution G A downstream_gene_variant PACA-AU 2 127808126 127808126 single base substitution A C intron_variant PACA-AU 2 127816858 127816858 single base substitution G C intron_variant PACA-AU 2 127816858 127816858 single base substitution G C upstream_gene_variant PACA-AU 2 127818516 127818516 deletion of <=200bp C - intron_variant PACA-AU 2 127818516 127818516 deletion of <=200bp C - upstream_gene_variant PACA-AU 2 127818673 127818673 single base substitution C T intron_variant PACA-AU 2 127818673 127818673 single base substitution C T upstream_gene_variant PACA-AU 2 127819752 127819752 single base substitution C T exon_variant PACA-AU 2 127819752 127819752 single base substitution C T missense_variant V235M 703G>A PACA-AU 2 127819752 127819752 single base substitution C T missense_variant V266M 796G>A PACA-AU 2 127819875 127819875 single base substitution C T intron_variant PACA-AU 2 127825041 127825041 insertion of <=200bp - A intron_variant PACA-AU 2 127825041 127825041 insertion of <=200bp - A upstream_gene_variant PACA-AU 2 127825651 127825651 single base substitution T A intron_variant PACA-AU 2 127825651 127825651 single base substitution T A upstream_gene_variant PACA-AU 2 127828382 127828383 multiple base substitution (>=2bp and <=200bp) GT TC missense_variant T59D 175AC>GA PACA-AU 2 127836053 127836053 single base substitution G A intron_variant PACA-AU 2 127837485 127837485 single base substitution G C intron_variant PACA-AU 2 127843138 127843138 single base substitution A T intron_variant PACA-AU 2 127849322 127849322 single base substitution A C intron_variant PACA-AU 2 127849988 127849988 single base substitution A C intron_variant PACA-AU 2 127854113 127854113 single base substitution T C intron_variant PACA-CA 2 127800966 127800966 single base substitution C T downstream_gene_variant PACA-CA 2 127802753 127802753 single base substitution C T downstream_gene_variant PACA-CA 2 127803500 127803500 single base substitution T A downstream_gene_variant PACA-CA 2 127804309 127804309 single base substitution C G downstream_gene_variant PACA-CA 2 127804748 127804748 single base substitution G C downstream_gene_variant PACA-CA 2 127805200 127805200 single base substitution G A downstream_gene_variant PACA-CA 2 127806604 127806604 single base substitution C T downstream_gene_variant PACA-CA 2 127806604 127806604 single base substitution C T intron_variant PACA-CA 2 127807011 127807011 single base substitution G A downstream_gene_variant PACA-CA 2 127807011 127807011 single base substitution G A intron_variant PACA-CA 2 127807059 127807059 single base substitution A G downstream_gene_variant PACA-CA 2 127807059 127807059 single base substitution A G intron_variant PACA-CA 2 127807481 127807481 single base substitution G A downstream_gene_variant PACA-CA 2 127807481 127807481 single base substitution G A intron_variant PACA-CA 2 127808411 127808411 single base substitution C T exon_variant PACA-CA 2 127808411 127808411 single base substitution C T synonymous_variant G329G 987G>A PACA-CA 2 127808411 127808411 single base substitution C T synonymous_variant G344G 1032G>A PACA-CA 2 127808411 127808411 single base substitution C T synonymous_variant G359G 1077G>A PACA-CA 2 127808411 127808411 single base substitution C T synonymous_variant G374G 1122G>A PACA-CA 2 127808411 127808411 single base substitution C T synonymous_variant G395G 1185G>A PACA-CA 2 127808411 127808411 single base substitution C T synonymous_variant G402G 1206G>A PACA-CA 2 127808411 127808411 single base substitution C T synonymous_variant G417G 1251G>A PACA-CA 2 127808411 127808411 single base substitution C T synonymous_variant G426G 1278G>A PACA-CA 2 127808411 127808411 single base substitution C T synonymous_variant G438G 1314G>A PACA-CA 2 127808411 127808411 single base substitution C T synonymous_variant G470G 1410G>A PACA-CA 2 127808411 127808411 single base substitution C T synonymous_variant G513G 1539G>A PACA-CA 2 127809517 127809517 single base substitution T C intron_variant PACA-CA 2 127809758 127809758 single base substitution C T intron_variant PACA-CA 2 127809849 127809849 single base substitution G A exon_variant PACA-CA 2 127809849 127809849 single base substitution G A intron_variant PACA-CA 2 127809849 127809849 single base substitution G A synonymous_variant A333A 999C>T PACA-CA 2 127809849 127809849 single base substitution G A synonymous_variant A364A 1092C>T PACA-CA 2 127809849 127809849 single base substitution G A synonymous_variant A376A 1128C>T PACA-CA 2 127809849 127809849 single base substitution G A synonymous_variant A408A 1224C>T PACA-CA 2 127809849 127809849 single base substitution G A synonymous_variant A451A 1353C>T PACA-CA 2 127821606 127821606 single base substitution C A intron_variant PACA-CA 2 127822619 127822619 single base substitution C T intron_variant PACA-CA 2 127822619 127822619 single base substitution C T upstream_gene_variant PACA-CA 2 127826851 127826851 single base substitution C T intron_variant PACA-CA 2 127826851 127826851 single base substitution C T upstream_gene_variant PACA-CA 2 127828730 127828730 single base substitution C T intron_variant PACA-CA 2 127830004 127830004 single base substitution C T intron_variant PACA-CA 2 127830397 127830397 single base substitution G A intron_variant PACA-CA 2 127831193 127831193 single base substitution G A intron_variant PACA-CA 2 127836070 127836070 single base substitution A G intron_variant PACA-CA 2 127839413 127839413 single base substitution G A intron_variant PACA-CA 2 127840897 127840897 single base substitution C A intron_variant PACA-CA 2 127843719 127843719 single base substitution G T intron_variant PACA-CA 2 127846676 127846676 single base substitution T C intron_variant PACA-CA 2 127849426 127849426 single base substitution T A intron_variant PACA-CA 2 127851634 127851634 single base substitution G A intron_variant PACA-CA 2 127853118 127853118 single base substitution C T intron_variant PACA-CA 2 127853339 127853339 single base substitution C A intron_variant PACA-CA 2 127854392 127854392 single base substitution A T intron_variant PACA-CA 2 127854940 127854940 single base substitution T C intron_variant PACA-CA 2 127856138 127856138 single base substitution G A intron_variant PACA-CA 2 127859413 127859413 single base substitution G A intron_variant PACA-CA 2 127859594 127859594 single base substitution T G intron_variant PACA-CA 2 127859859 127859859 single base substitution G A intron_variant PACA-CA 2 127862273 127862273 single base substitution T A intron_variant PACA-CA 2 127864088 127864088 single base substitution C A intron_variant PACA-CA 2 127866076 127866076 single base substitution G A upstream_gene_variant PACA-CA 2 127867785 127867785 insertion of <=200bp - T upstream_gene_variant PACA-CA 2 127868912 127868912 single base substitution G A upstream_gene_variant PAEN-AU 2 127825556 127825556 single base substitution G T intron_variant PAEN-AU 2 127825556 127825556 single base substitution G T upstream_gene_variant PAEN-AU 2 127837524 127837524 single base substitution A C intron_variant PAEN-AU 2 127855807 127855807 single base substitution C T intron_variant PAEN-AU 2 127864117 127864117 single base substitution T G intron_variant PAEN-AU 2 127865126 127865126 single base substitution A C upstream_gene_variant PAEN-IT 2 127804421 127804421 single base substitution G T downstream_gene_variant PAEN-IT 2 127824713 127824713 single base substitution C G intron_variant PAEN-IT 2 127824713 127824713 single base substitution C G upstream_gene_variant PAEN-IT 2 127840758 127840758 single base substitution C A intron_variant PBCA-DE 2 127803098 127803098 single base substitution G A downstream_gene_variant PBCA-DE 2 127804850 127804850 deletion of <=200bp C - downstream_gene_variant PBCA-DE 2 127805043 127805043 single base substitution A G downstream_gene_variant PBCA-DE 2 127814545 127814545 single base substitution C G intron_variant PBCA-DE 2 127814545 127814545 single base substitution C G upstream_gene_variant PBCA-DE 2 127815411 127815411 single base substitution G A intron_variant PBCA-DE 2 127815411 127815411 single base substitution G A upstream_gene_variant PBCA-DE 2 127818992 127818992 single base substitution C T intron_variant PBCA-DE 2 127818992 127818992 single base substitution C T upstream_gene_variant PBCA-DE 2 127833895 127833895 single base substitution A T intron_variant PBCA-DE 2 127834893 127834894 deletion of <=200bp CA - intron_variant PBCA-DE 2 127837621 127837621 single base substitution G A intron_variant PBCA-DE 2 127848617 127848617 single base substitution G A intron_variant PBCA-DE 2 127849829 127849829 single base substitution T A intron_variant PBCA-DE 2 127851122 127851122 deletion of <=200bp C - intron_variant PBCA-DE 2 127856927 127856928 deletion of <=200bp TG - intron_variant PBCA-DE 2 127862981 127862981 insertion of <=200bp - C intron_variant PBCA-DE 2 127864618 127864618 single base substitution G C 5_prime_UTR_variant PBCA-DE 2 127864618 127864618 single base substitution G C upstream_gene_variant PBCA-DE 2 127868152 127868152 single base substitution G T upstream_gene_variant PBCA-DE 2 127868806 127868806 single base substitution C A upstream_gene_variant PRAD-CA 2 127800996 127800996 single base substitution C T downstream_gene_variant PRAD-CA 2 127840668 127840668 single base substitution C T intron_variant PRAD-CA 2 127844161 127844161 single base substitution G A intron_variant PRAD-CA 2 127845864 127845864 single base substitution A C intron_variant PRAD-CA 2 127851254 127851254 single base substitution C A intron_variant PRAD-CA 2 127853676 127853676 single base substitution C T intron_variant PRAD-UK 2 127803622 127803622 single base substitution G T downstream_gene_variant PRAD-UK 2 127804813 127804813 single base substitution G C downstream_gene_variant PRAD-UK 2 127812371 127812371 single base substitution C A exon_variant PRAD-UK 2 127812371 127812371 single base substitution C A intron_variant PRAD-UK 2 127820901 127820901 single base substitution T G intron_variant PRAD-UK 2 127825616 127825616 single base substitution G A intron_variant PRAD-UK 2 127825616 127825616 single base substitution G A upstream_gene_variant PRAD-UK 2 127826695 127826695 single base substitution C T intron_variant PRAD-UK 2 127826695 127826695 single base substitution C T upstream_gene_variant PRAD-UK 2 127838939 127838939 single base substitution G C intron_variant PRAD-UK 2 127860606 127860606 single base substitution T A intron_variant READ-US 2 127809921 127809921 single base substitution G A exon_variant READ-US 2 127809921 127809921 single base substitution G A intron_variant READ-US 2 127809921 127809921 single base substitution G A synonymous_variant A309A 927C>T READ-US 2 127809921 127809921 single base substitution G A synonymous_variant A340A 1020C>T READ-US 2 127809921 127809921 single base substitution G A synonymous_variant A352A 1056C>T READ-US 2 127809921 127809921 single base substitution G A synonymous_variant A384A 1152C>T READ-US 2 127809921 127809921 single base substitution G A synonymous_variant A427A 1281C>T READ-US 2 127811493 127811493 single base substitution C T exon_variant READ-US 2 127811493 127811493 single base substitution C T intron_variant READ-US 2 127811493 127811493 single base substitution C T synonymous_variant T366T 1098G>A READ-US 2 127811493 127811493 single base substitution C T synonymous_variant T409T 1227G>A RECA-EU 2 127815547 127815547 single base substitution A G intron_variant RECA-EU 2 127815547 127815547 single base substitution A G upstream_gene_variant RECA-EU 2 127829201 127829201 single base substitution C G intron_variant RECA-EU 2 127829523 127829523 single base substitution G T intron_variant SKCA-BR 2 127801811 127801812 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 2 127801822 127801824 deletion of <=200bp TCA - downstream_gene_variant SKCA-BR 2 127801900 127801910 deletion of <=200bp CTTCACACACA - downstream_gene_variant SKCA-BR 2 127806020 127806020 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 127806020 127806020 single base substitution G A downstream_gene_variant SKCA-BR 2 127806020 127806020 single base substitution G A exon_variant SKCA-BR 2 127808574 127808574 single base substitution A G intron_variant SKCA-BR 2 127808709 127808709 single base substitution G A intron_variant SKCA-BR 2 127809602 127809602 single base substitution G A intron_variant SKCA-BR 2 127810468 127810468 single base substitution T C exon_variant SKCA-BR 2 127810468 127810468 single base substitution T C intron_variant SKCA-BR 2 127811124 127811124 single base substitution C T exon_variant SKCA-BR 2 127811124 127811124 single base substitution C T intron_variant SKCA-BR 2 127815186 127815186 single base substitution C T intron_variant SKCA-BR 2 127815186 127815186 single base substitution C T upstream_gene_variant SKCA-BR 2 127816889 127816889 single base substitution G A intron_variant SKCA-BR 2 127816889 127816889 single base substitution G A upstream_gene_variant SKCA-BR 2 127816890 127816890 single base substitution G A intron_variant SKCA-BR 2 127816890 127816890 single base substitution G A upstream_gene_variant SKCA-BR 2 127820257 127820257 single base substitution G A intron_variant SKCA-BR 2 127820406 127820406 single base substitution G A intron_variant SKCA-BR 2 127820523 127820523 single base substitution C T intron_variant SKCA-BR 2 127821016 127821016 single base substitution G A intron_variant SKCA-BR 2 127822379 127822379 single base substitution G A exon_variant SKCA-BR 2 127822379 127822379 single base substitution G A intron_variant SKCA-BR 2 127822883 127822883 single base substitution G A intron_variant SKCA-BR 2 127822883 127822883 single base substitution G A upstream_gene_variant SKCA-BR 2 127825166 127825166 single base substitution G A intron_variant SKCA-BR 2 127825166 127825166 single base substitution G A upstream_gene_variant SKCA-BR 2 127829084 127829084 single base substitution C T intron_variant SKCA-BR 2 127830362 127830362 single base substitution C T intron_variant SKCA-BR 2 127834545 127834545 single base substitution G A intron_variant SKCA-BR 2 127835976 127835976 single base substitution G A intron_variant SKCA-BR 2 127837733 127837733 single base substitution G A intron_variant SKCA-BR 2 127839670 127839670 single base substitution G A intron_variant SKCA-BR 2 127842608 127842608 single base substitution T C intron_variant SKCA-BR 2 127843282 127843282 single base substitution G A intron_variant SKCA-BR 2 127844027 127844027 single base substitution G A intron_variant SKCA-BR 2 127844306 127844306 single base substitution A C intron_variant SKCA-BR 2 127846562 127846562 single base substitution C G intron_variant SKCA-BR 2 127847142 127847142 single base substitution A G intron_variant SKCA-BR 2 127848306 127848306 single base substitution G A intron_variant SKCA-BR 2 127851125 127851125 single base substitution C T intron_variant SKCA-BR 2 127852636 127852636 single base substitution G A intron_variant SKCA-BR 2 127854888 127854911 deletion of <=200bp TGTCATCCCTCCAGGCCCAGGAGC - intron_variant SKCA-BR 2 127854940 127854940 single base substitution T C intron_variant SKCA-BR 2 127855356 127855356 single base substitution C T intron_variant SKCA-BR 2 127857046 127857046 single base substitution G A intron_variant SKCA-BR 2 127857428 127857428 single base substitution G A intron_variant SKCA-BR 2 127857947 127857947 single base substitution C T intron_variant SKCA-BR 2 127858228 127858228 single base substitution G A intron_variant SKCA-BR 2 127859073 127859073 single base substitution A C intron_variant SKCA-BR 2 127863224 127863224 single base substitution C T intron_variant SKCA-BR 2 127863258 127863258 single base substitution C T intron_variant SKCA-BR 2 127866280 127866288 deletion of <=200bp TTTTATTTA - upstream_gene_variant SKCA-BR 2 127868462 127868462 single base substitution C T upstream_gene_variant SKCM-US 2 127808019 127808019 single base substitution G A exon_variant SKCM-US 2 127808019 127808019 single base substitution G A missense_variant P367L 1100C>T SKCM-US 2 127808019 127808019 single base substitution G A missense_variant P382L 1145C>T SKCM-US 2 127808019 127808019 single base substitution G A missense_variant P397L 1190C>T SKCM-US 2 127808019 127808019 single base substitution G A missense_variant P412L 1235C>T SKCM-US 2 127808019 127808019 single base substitution G A missense_variant P433L 1298C>T SKCM-US 2 127808019 127808019 single base substitution G A missense_variant P440L 1319C>T SKCM-US 2 127808019 127808019 single base substitution G A missense_variant P455L 1364C>T SKCM-US 2 127808019 127808019 single base substitution G A missense_variant P464L 1391C>T SKCM-US 2 127808019 127808019 single base substitution G A missense_variant P476L 1427C>T SKCM-US 2 127808019 127808019 single base substitution G A missense_variant P508L 1523C>T SKCM-US 2 127808019 127808019 single base substitution G A missense_variant P551L 1652C>T SKCM-US 2 127808387 127808387 single base substitution G A exon_variant SKCM-US 2 127808387 127808387 single base substitution G A synonymous_variant F337F 1011C>T SKCM-US 2 127808387 127808387 single base substitution G A synonymous_variant F352F 1056C>T SKCM-US 2 127808387 127808387 single base substitution G A synonymous_variant F367F 1101C>T SKCM-US 2 127808387 127808387 single base substitution G A synonymous_variant F382F 1146C>T SKCM-US 2 127808387 127808387 single base substitution G A synonymous_variant F403F 1209C>T SKCM-US 2 127808387 127808387 single base substitution G A synonymous_variant F410F 1230C>T SKCM-US 2 127808387 127808387 single base substitution G A synonymous_variant F425F 1275C>T SKCM-US 2 127808387 127808387 single base substitution G A synonymous_variant F434F 1302C>T SKCM-US 2 127808387 127808387 single base substitution G A synonymous_variant F446F 1338C>T SKCM-US 2 127808387 127808387 single base substitution G A synonymous_variant F478F 1434C>T SKCM-US 2 127808387 127808387 single base substitution G A synonymous_variant F521F 1563C>T SKCM-US 2 127808401 127808401 single base substitution G A exon_variant SKCM-US 2 127808401 127808401 single base substitution G A synonymous_variant L333L 997C>T SKCM-US 2 127808401 127808401 single base substitution G A synonymous_variant L348L 1042C>T SKCM-US 2 127808401 127808401 single base substitution G A synonymous_variant L363L 1087C>T SKCM-US 2 127808401 127808401 single base substitution G A synonymous_variant L378L 1132C>T SKCM-US 2 127808401 127808401 single base substitution G A synonymous_variant L399L 1195C>T SKCM-US 2 127808401 127808401 single base substitution G A synonymous_variant L406L 1216C>T SKCM-US 2 127808401 127808401 single base substitution G A synonymous_variant L421L 1261C>T SKCM-US 2 127808401 127808401 single base substitution G A synonymous_variant L430L 1288C>T SKCM-US 2 127808401 127808401 single base substitution G A synonymous_variant L442L 1324C>T SKCM-US 2 127808401 127808401 single base substitution G A synonymous_variant L474L 1420C>T SKCM-US 2 127808401 127808401 single base substitution G A synonymous_variant L517L 1549C>T SKCM-US 2 127809905 127809905 single base substitution C T exon_variant SKCM-US 2 127809905 127809905 single base substitution C T intron_variant SKCM-US 2 127809905 127809905 single base substitution C T missense_variant G315R 943G>A SKCM-US 2 127809905 127809905 single base substitution C T missense_variant G346R 1036G>A SKCM-US 2 127809905 127809905 single base substitution C T missense_variant G358R 1072G>A SKCM-US 2 127809905 127809905 single base substitution C T missense_variant G390R 1168G>A SKCM-US 2 127809905 127809905 single base substitution C T missense_variant G433R 1297G>A SKCM-US 2 127811009 127811009 single base substitution C T exon_variant SKCM-US 2 127811009 127811009 single base substitution C T intron_variant SKCM-US 2 127811009 127811009 single base substitution C T missense_variant D375N 1123G>A SKCM-US 2 127811009 127811009 single base substitution C T missense_variant D418N 1252G>A SKCM-US 2 127821166 127821166 single base substitution A T exon_variant SKCM-US 2 127821166 127821166 single base substitution A T missense_variant F221Y 662T>A SKCM-US 2 127821166 127821166 single base substitution A T missense_variant F252Y 755T>A SKCM-US 2 127821182 127821182 single base substitution C T exon_variant SKCM-US 2 127821182 127821182 single base substitution C T missense_variant G216S 646G>A SKCM-US 2 127821182 127821182 single base substitution C T missense_variant G247S 739G>A SKCM-US 2 127821520 127821520 single base substitution G A exon_variant SKCM-US 2 127821520 127821520 single base substitution G A synonymous_variant S198S 594C>T SKCM-US 2 127821520 127821520 single base substitution G A synonymous_variant S229S 687C>T SKCM-US 2 127821555 127821555 single base substitution C T exon_variant SKCM-US 2 127821555 127821555 single base substitution C T missense_variant E187K 559G>A SKCM-US 2 127821555 127821555 single base substitution C T missense_variant E218K 652G>A SKCM-US 2 127828159 127828159 single base substitution G A synonymous_variant P95P 285C>T STAD-US 2 127808729 127808729 single base substitution C T intron_variant STAD-US 2 127808729 127808729 single base substitution C T splice_donor_variant STAD-US 2 127821515 127821515 single base substitution C T exon_variant STAD-US 2 127821515 127821515 single base substitution C T stop_gained W200* 599G>A STAD-US 2 127821515 127821515 single base substitution C T stop_gained W231* 692G>A STAD-US 2 127828152 127828152 single base substitution C A missense_variant D98Y 292G>T STAD-US 2 127828171 127828171 single base substitution C A missense_variant E91D 273G>T STAD-US 2 127864487 127864487 single base substitution C G synonymous_variant A11A 33G>C THCA-SA 2 127816632 127816632 single base substitution G A exon_variant THCA-SA 2 127816632 127816632 single base substitution G A synonymous_variant A288A 864C>T THCA-SA 2 127816632 127816632 single base substitution G A synonymous_variant A303A 909C>T THCA-SA 2 127816632 127816632 single base substitution G A synonymous_variant A319A 957C>T THCA-SA 2 127816632 127816632 single base substitution G A upstream_gene_variant THCA-SA 2 127826533 127826533 single base substitution A G synonymous_variant T162T 486T>C THCA-SA 2 127826533 127826533 single base substitution A G upstream_gene_variant UCEC-US 2 127809843 127809843 single base substitution C T exon_variant UCEC-US 2 127809843 127809843 single base substitution C T intron_variant UCEC-US 2 127809843 127809843 single base substitution C T synonymous_variant P335P 1005G>A UCEC-US 2 127809843 127809843 single base substitution C T synonymous_variant P366P 1098G>A UCEC-US 2 127809843 127809843 single base substitution C T synonymous_variant P378P 1134G>A UCEC-US 2 127809843 127809843 single base substitution C T synonymous_variant P410P 1230G>A UCEC-US 2 127809843 127809843 single base substitution C T synonymous_variant P453P 1359G>A UCEC-US 2 127816725 127816725 single base substitution G A exon_variant UCEC-US 2 127816725 127816725 single base substitution G A synonymous_variant N257N 771C>T UCEC-US 2 127816725 127816725 single base substitution G A synonymous_variant N272N 816C>T UCEC-US 2 127816725 127816725 single base substitution G A synonymous_variant N288N 864C>T UCEC-US 2 127816725 127816725 single base substitution G A upstream_gene_variant UCEC-US 2 127821523 127821523 single base substitution C T exon_variant UCEC-US 2 127821523 127821523 single base substitution C T synonymous_variant P197P 591G>A UCEC-US 2 127821523 127821523 single base substitution C T synonymous_variant P228P 684G>A UCEC-US 2 127825781 127825781 single base substitution C T intron_variant UCEC-US 2 127825781 127825781 single base substitution C T synonymous_variant L190L 570G>A UCEC-US 2 127825781 127825781 single base substitution C T upstream_gene_variant UCEC-US 2 127827579 127827579 single base substitution C T missense_variant D135N 403G>A UCEC-US 2 127864439 127864441 deletion of <=200bp CTC - inframe_deletion E27

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FR-A44A-06 COSM3566064 c.755T>A p.F252Y Substitution - Missense 2:127063590-127063590 - TCGA-EB-A3XD-01 COSM3566063 c.1252G>A p.D418N Substitution - Missense 2:127053433-127053433 - TCGA-C5-A1MK-01 COSM4827011 c.394C>T p.Q132* Substitution - Nonsense 2:127070012-127070012 - CSCC-62-T COSM4499608 c.546C>T p.A182A Substitution - coding silent 2:127068229-127068229 - CHC892T COSM4795320 c.1291C>T p.P431S Substitution - Missense 2:127052335-127052335 - CHC197T COSM3766507 c.486T>C p.T162T Substitution - coding silent 2:127068957-127068957 - LAU165 COSM233880 c.698+8C>T p.? Unknown 2:127063925-127063925 - T3446 COSM4665719 c.1477G>A p.V493I Substitution - Missense 2:127050897-127050897 - TCGA-D7-A4YV-01 COSM4084661 c.273G>T p.E91D Substitution - Missense 2:127070595-127070595 - MZ7-mel COSM24293 c.532C>A p.L178I Substitution - Missense 2:127068243-127068243 - TCGA-AG-A02G-01 COSM290565 c.1745G>T p.G582V Substitution - Missense 2:127048563-127048563 - 8013142 COSM3390902 c.796G>A p.V266M Substitution - Missense 2:127062176-127062176 - 1 COSM4333148 c.888C>T p.S296S Substitution - coding silent 2:127059125-127059125 - 7285 COSM5617081 c.1434G>A p.G478G Substitution - coding silent 2:127051181-127051181 - TCGA-FJ-A3ZE-01 COSM3797921 c.688C>T p.L230L Substitution - coding silent 2:127063943-127063943 - TCGA-06-0185-01 COSM1559545 c.1625A>T p.K542M Substitution - Missense 2:127050470-127050470 - SJHYPO044 COSM4775706 c.1264-10_1264-9insTGTGGGGGG p.? Unknown 2:127052371-127052372 - TCGA-CS-4941-01 COSM3971546 c.179G>A p.R60Q Substitution - Missense 2:127070803-127070803 - 098T COSM1731594 c.676_678delGAG p.E226delE Deletion - In frame 2:127063953-127063955 - TCGA-BR-8487-01 COSM4084657 c.692G>A p.W231* Substitution - Nonsense 2:127063939-127063939 - PD4248a COSM219688 c.764A>G p.E255G Substitution - Missense 2:127063581-127063581 - 587376 COSM1184712 c.1609G>T p.D537Y Substitution - Missense 2:127050486-127050486 - CSCC-27-T COSM4472393 c.177C>T p.T59T Substitution - coding silent 2:127070805-127070805 - TCGA-B5-A11Y-01 COSM1006153 c.864C>T p.N288N Substitution - coding silent 2:127059149-127059149 - WA43-71 COSM238964 c.657G>A p.M219I Substitution - Missense 2:127063974-127063974 - B47 COSM1752017 c.527C>T p.S176L Substitution - Missense 2:127068248-127068248 - PTC-14C COSM3766507 c.486T>C p.T162T Substitution - coding silent 2:127068957-127068957 - PTC-7C COSM4133044 c.714C>T p.Y238Y Substitution - coding silent 2:127063631-127063631 - TCGA-A8-A08I-01 COSM441075 c.355delG p.V119fs*6 Deletion - Frameshift 2:127070051-127070051 - CSCC-27-T COSM4496568 c.477C>T p.S159S Substitution - coding silent 2:127068966-127068966 - CSCC-44-T COSM4454363 c.470A>T p.Y157F Substitution - Missense 2:127068973-127068973 - 587278 COSM1184710 c.160C>T p.Q54* Substitution - Nonsense 2:127076631-127076631 - TCGA-BS-A0UA-01 COSM1006156 c.403G>A p.D135N Substitution - Missense 2:127070003-127070003 - TCGA-BT-A2LB-01 COSM3797923 c.85-1G>A p.? Unknown 2:127076707-127076707 - T2932 COSM4665723 c.576T>G p.A192A Substitution - coding silent 2:127068199-127068199 - 51T COSM108968 c.444G>A p.V148V Substitution - coding silent 2:127068999-127068999 - Pat_66_A COSM5860051 c.1462-1G>A p.? Unknown 2:127050913-127050913 - CSCC-11-T COSM4526541 c.1401G>A p.G467G Substitution - coding silent 2:127051214-127051214 - TCGA-HU-A4H8-01 COSM4084655 c.1461+1G>A p.? Unknown 2:127051153-127051153 - TCGA-A3-3380-01 COSM1494615 c.86T>G p.V29G Substitution - Missense 2:127076705-127076705 - TCGA-AF-6136-01 COSM1564827 c.1281C>T p.A427A Substitution - coding silent 2:127052345-127052345 - PCSI_0090_Pa_P COSM3379757 c.1539G>A p.G513G Substitution - coding silent 2:127050835-127050835 - TCGA-AY-6197-01 COSM1399194 c.550delC p.Q184fs*12 Deletion - Frameshift 2:127068225-127068225 - YURUS COSM1691012 c.502G>A p.E168K Substitution - Missense 2:127068941-127068941 - C135 COSM4618086 c.604C>T p.R202* Substitution - Nonsense 2:127068171-127068171 - pfg123T COSM4761169 c.1309G>A p.A437T Substitution - Missense 2:127052317-127052317 - TCGA-02-0004-01 COSM1559545 c.1625A>T p.K542M Substitution - Missense 2:127050470-127050470 - TCGA-B0-4690-01 COSM3364260 c.1622T>A p.L541H Substitution - Missense 2:127050473-127050473 - SNUH_G76_S1 COSM4419456 c.698+10A>G p.? Unknown 2:127063923-127063923 - TCGA-EI-6882-01 COSM203457 c.1227G>A p.T409T Substitution - coding silent 2:127053917-127053917 - CHC320T COSM3766507 c.486T>C p.T162T Substitution - coding silent 2:127068957-127068957 - SW837 COSM3042106 c.1633G>A p.D545N Substitution - Missense 2:127050462-127050462 - TCGA-AP-A059-01 COSM1006156 c.403G>A p.D135N Substitution - Missense 2:127070003-127070003 - TCGA-B6-A0IN-01 COSM441074 c.1707C>T p.S569S Substitution - coding silent 2:127048601-127048601 - HCT15 COSM4632847 c.866C>A p.A289E Substitution - Missense 2:127059147-127059147 - S02360 COSM5696094 c.1015C>T p.P339S Substitution - Missense 2:127057589-127057589 - TCGA-EE-A3JD-06 COSM4393911 c.1549C>T p.L517L Substitution - coding silent 2:127050825-127050825 - PD4264a COSM5768375 c.1282G>A p.G428S Substitution - Missense 2:127052344-127052344 - TCGA-02-0075-01 COSM1559547 c.1362G>A p.G454G Substitution - coding silent 2:127052264-127052264 - H292 COSM1197339 c.866C>T p.A289V Substitution - Missense 2:127059147-127059147 - CHC1600T COSM4791498 c.169G>T p.E57* Substitution - Nonsense 2:127070813-127070813 - TCGA-24-1427-01 COSM80915 c.408C>A p.I136I Substitution - coding silent 2:127069998-127069998 - TCGA-GN-A267-06 COSM3566062 c.1297G>A p.G433R Substitution - Missense 2:127052329-127052329 - ASHPC_0015_Pa_P COSM3787846 c.1353C>T p.A451A Substitution - coding silent 2:127052273-127052273 - TCGA-GN-A266-06 COSM3566066 c.687C>T p.S229S Substitution - coding silent 2:127063944-127063944 - LUAD-S01356 COSM398157 c.1241C>G p.S414* Substitution - Nonsense 2:127053444-127053444 - TCGA-D1-A17H-01 COSM1006157 c.79_81delGAG p.E27delE Deletion - In frame 2:127106863-127106865 - PTC-7C COSM4133043 c.1224C>A p.P408P Substitution - coding silent 2:127053920-127053920 - CHC1600T COSM4791498 c.169G>T p.E57* Substitution - Nonsense 2:127070813-127070813 - HCA7 COSM4612114 c.494delA p.K165fs*31 Deletion - Frameshift 2:127068949-127068949 - 587276 COSM1184708 c.1719G>T p.Q573H Substitution - Missense 2:127048589-127048589 - sysucc-641T COSM5483374 c.1540C>T p.R514C Substitution - Missense 2:127050834-127050834 - CHC892T COSM4795320 c.1291C>T p.P431S Substitution - Missense 2:127052335-127052335 - CSCC-7-T COSM4463450 c.1292C>T p.P431L Substitution - Missense 2:127052334-127052334 - 1N23-VS-1T23 COSM4973210 c.1314C>T p.A438A Substitution - coding silent 2:127052312-127052312 - TCGA-09-2044-01 COSM69819 c.277G>A p.D93N Substitution - Missense 2:127070591-127070591 - CSCC-27-T COSM4474745 c.193C>T p.L65F Substitution - Missense 2:127070789-127070789 - NCI-H1437 COSM24291 c.1194C>A p.L398L Substitution - coding silent 2:127053950-127053950 - LC_C25 COSM1185992 c.1093A>T p.T365S Substitution - Missense 2:127057511-127057511 - LUAD-B01811 COSM334380 c.260A>T p.Q87L Substitution - Missense 2:127070608-127070608 - T263 COSM4665717 c.1596G>A p.T532T Substitution - coding silent 2:127050499-127050499 - CSCC-11-T COSM4470318 c.1653C>T p.P551P Substitution - coding silent 2:127050442-127050442 - CHC433T COSM3757610 c.957C>T p.A319A Substitution - coding silent 2:127059056-127059056 - Br27P COSM54458 c.701G>A p.R234H Substitution - Missense 2:127063644-127063644 - HCT116 COSM4632273 c.1321A>G p.T441A Substitution - Missense 2:127052305-127052305 - TCGA-AP-A0LD-01 COSM1006156 c.403G>A p.D135N Substitution - Missense 2:127070003-127070003 - 8014573 COSM4387507 c.175_176AC>GA p.T59D Substitution - Missense 2:127070806-127070807 - TCGA-DW-5560-01 COSM3990565 c.187A>G p.K63E Substitution - Missense 2:127070795-127070795 - pfg143T COSM4761167 c.1696G>A p.V566M Substitution - Missense 2:127048612-127048612 - PT15_1 COSM5897348 c.91C>T p.Q31* Substitution - Nonsense 2:127076700-127076700 - Pat_41_B COSM5860053 c.35G>A p.G12E Substitution - Missense 2:127106909-127106909 - LUAD-S01356 COSM398158 c.262G>T p.E88* Substitution - Nonsense 2:127070606-127070606 - RDES COSM4582621 c.402C>T p.P134P Substitution - coding silent 2:127070004-127070004 - TCGA-06-0745 COSM2151710 c.1419A>G p.G473G Substitution - coding silent 2:127051196-127051196 - PTC-7C COSM1399192 c.894G>A p.S298S Substitution - coding silent 2:127059119-127059119 - B47-Tumor COSM1752017 c.527C>T p.S176L Substitution - Missense 2:127068248-127068248 - 587376 COSM1184714 c.1573G>T p.V525L Substitution - Missense 2:127050522-127050522 - AA1934 COSM4168572 c.1747G>A p.V583I Substitution - Missense 2:127048561-127048561 - PD9585a COSM5779485 c.824G>T p.G275V Substitution - Missense 2:127062148-127062148 - ATL049 COSM5707751 c.1016C>G p.P339R Substitution - Missense 2:127057588-127057588 - 8014573 COSM3390904 c.176C>A p.T59N Substitution - Missense 2:127070806-127070806 - TCGA-FR-A3YO-06 COSM3566060 c.1563C>T p.F521F Substitution - coding silent 2:127050811-127050811 - sysucc-311T COSM5465035 c.658A>C p.N220H Substitution - Missense 2:127063973-127063973 - TCGA-D3-A2JA-06 COSM3566058 c.1652C>T p.P551L Substitution - Missense 2:127050443-127050443 - WA43-27 COSM238964 c.657G>A p.M219I Substitution - Missense 2:127063974-127063974 - TCGA-B0-4848-01 COSM3773935 c.903T>G p.D301E Substitution - Missense 2:127059110-127059110 - D28 COSM5544528 c.756C>T p.F252F Substitution - coding silent 2:127063589-127063589 - TCGA-AC-A23H-01 COSM3836741 c.908C>G p.S303C Substitution - Missense 2:127059105-127059105 - 2293776 COSM4607744 c.160C>A p.Q54K Substitution - Missense 2:127076631-127076631 - TCGA-BR-A4CS-01 COSM4084663 c.33G>C p.A11A Substitution - coding silent 2:127106911-127106911 - TCGA-DI-A0WH-01 COSM1006152 c.1359G>A p.P453P Substitution - coding silent 2:127052267-127052267 - TCGA-AX-A0J1-01 COSM1006154 c.684G>A p.P228P Substitution - coding silent 2:127063947-127063947 - LC_S28 COSM1185991 c.1165A>T p.S389C Substitution - Missense 2:127053979-127053979 - KM12 COSM1669240 c.1618C>T p.Q540* Substitution - Nonsense 2:127050477-127050477 - PCSI_0090_Pa_X COSM3379757 c.1539G>A p.G513G Substitution - coding silent 2:127050835-127050835 - TCGA-EE-A3JD-06 COSM4397482 c.739G>A p.G247S Substitution - Missense 2:127063606-127063606 - 2492721 COSM5719674 c.1425G>A p.Q475Q Substitution - coding silent 2:127051190-127051190 - Br07X COSM54457 c.1621C>G p.L541V Substitution - Missense 2:127050474-127050474 - CHC918T COSM3668809 c.1474G>T p.A492S Substitution - Missense 2:127050900-127050900 - SNUH_G76_S1 COSM4419892 c.85-4G>A p.? Unknown 2:127076710-127076710 - TCGA-13-0886-01 COSM118394 c.843C>G p.V281V Substitution - coding silent 2:127062129-127062129 - S02351 COSM5695088 c.1222C>T p.P408S Substitution - Missense 2:127053922-127053922 - 2492720 COSM5719674 c.1425G>A p.Q475Q Substitution - coding silent 2:127051190-127051190 - KM12 COSM1669240 c.1618C>T p.Q540* Substitution - Nonsense 2:127050477-127050477 - YUKAT COSM1399195 c.278A>G p.D93G Substitution - Missense 2:127070590-127070590 - ESO-732 COSM1246112 c.1630G>A p.G544S Substitution - Missense 2:127050465-127050465 - NCI-H1437 COSM24291 c.1194C>A p.L398L Substitution - coding silent 2:127053950-127053950 - TCGA-D1-A167-01 COSM1006155 c.570G>A p.L190L Substitution - coding silent 2:127068205-127068205 - Gp5D COSM3042134 c.671A>T p.Q224L Substitution - Missense 2:127063960-127063960 - 3N39-VS-3T39 COSM4981516 c.840G>T p.T280T Substitution - coding silent 2:127062132-127062132 - T2197 COSM4665721 c.669G>A p.L223L Substitution - coding silent 2:127063962-127063962 - LUAD-CHTN-MAD06-00668 COSM359513 c.1627G>T p.A543S Substitution - Missense 2:127050468-127050468 - LUAD-B02216 COSM335595 c.433C>G p.R145G Substitution - Missense 2:127069010-127069010 - YUPAER COSM5394255 c.1689C>T p.L563L Substitution - coding silent 2:127048619-127048619 - TCGA-HU-A4H8-01 COSM4084659 c.292G>T p.D98Y Substitution - Missense 2:127070576-127070576 - ESCC_BICR_027T COSM5443243 c.481C>G p.Q161E Substitution - Missense 2:127068962-127068962 - TCGA-29-1705-01 COSM1325945 c.337G>C p.D113H Substitution - Missense 2:127070069-127070069 - CHC322T COSM3757610 c.957C>T p.A319A Substitution - coding silent 2:127059056-127059056 - C086 COSM5527361 c.1260G>A p.W420* Substitution - Nonsense 2:127053425-127053425 - Au10 COSM5598051 c.930C>T p.I310I Substitution - coding silent 2:127059083-127059083 - CSCC-56-T COSM4479566 c.233C>T p.A78V Substitution - Missense 2:127070635-127070635 - 8014573 COSM3390906 c.175A>G p.T59A Substitution - Missense 2:127070807-127070807 - LIM1899 COSM4640307 c.905G>A p.G302D Substitution - Missense 2:127059108-127059108 - 2492722 COSM5719674 c.1425G>A p.Q475Q Substitution - coding silent 2:127051190-127051190 - 46M COSM5587291 c.1460C>T p.S487F Substitution - Missense 2:127051155-127051155 - TCGA-AK-3425-01 COSM3364258 c.1622T>G p.L541R Substitution - Missense 2:127050473-127050473 - MZ7-mel COSM24293 c.532C>A p.L178I Substitution - Missense 2:127068243-127068243 - PD4248a COSM219688 c.764A>G p.E255G Substitution - Missense 2:127063581-127063581 - 8068033 COSM3390902 c.796G>A p.V266M Substitution - Missense 2:127062176-127062176 - TCGA-AM-5820-01 COSM3757610 c.957C>T p.A319A Substitution - coding silent 2:127059056-127059056 - TCGA-DD-A73G-01 COSM4941350 c.1686G>A p.W562* Substitution - Nonsense 2:127048622-127048622 - TCGA-D3-A2JF-06 COSM3042152 c.285C>T p.P95P Substitution - coding silent 2:127070583-127070583 - S00936 COSM309479 c.1746C>T p.G582G Substitution - coding silent 2:127048562-127048562 - WA43-44 COSM238964 c.657G>A p.M219I Substitution - Missense 2:127063974-127063974 - TCGA-13-2057-01 COSM1325947 c.589C>G p.Q197E Substitution - Missense 2:127068186-127068186 - TCGA-EE-A3JD-06 COSM4395992 c.652G>A p.E218K Substitution - Missense 2:127063979-127063979 - 2207 COSM5010858 c.214G>A p.V72I Substitution - Missense 2:127070768-127070768 - 172T COSM1725920 c.1781G>T p.*594L Nonstop extension 2:127048527-127048527 - 2492723 COSM5719674 c.1425G>A p.Q475Q Substitution - coding silent 2:127051190-127051190 - C80 COSM4619775 c.1007G>A p.R336Q Substitution - Missense 2:127057597-127057597 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.193163 2q14 601248

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D301E c.903T>G 2 127816686 RCCC A C Missense p.L541R c.1622T>G 2 127808049 RCCC A G IntronicSNV . c.1132-803T>C 2 127812391 HC A T Missense p.L541H c.1622T>A 2 127808049 RCCC C A Missense p.G582V c.1745G>T 2 127806139 COREAD C A Missense p.M522I c.1566G>T 2 127808384 LUAD C A Missense p.R143L c.428G>T 2 127826591 CM C A Synonymous p.G144G c.432G>T 2 127826587 LUAD - CCCCCCACA IntronicInsertion . c.1264-12_1264-11insTGTGGGGGG 2 127809949 ALL C G Missense p.L541V c.1621C>G 2 127808050 GBM C T 3-UTRSNV . c.1779+123G>A 2 127805982 CM CTC - InFrameDeletion p.E27delE c.79_81delGAG 2 127864439 UCEC C T IntronicSNV . c.1240-70G>A 2 127811091 CM C T Missense p.D135N c.403G>A 2 127827579 UCEC C T Missense p.D64N c.190G>A 2 127828368 CM C T Missense p.D93N c.277G>A 2 127828167 OV C T Missense p.E218K c.652G>A 2 127821555 CM C T Missense p.E463K c.1387G>A 2 127808804 CM C T Missense p.G247S c.739G>A 2 127821182 CM C T Missense p.G433R c.1297G>A 2 127809905 CM C T Missense p.G544S c.1630G>A 2 127808041 ESCA C T Missense p.R60Q c.179G>A 2 127828379 LGG C T SpliceAcceptorSNV . c.85-1G>A 2 127834283 BLCA C T Synonymous p.E249E c.747G>A 2 127821174 LUAD C T Synonymous p.G478G c.1434G>A 2 127808757 NSCLC C T Synonymous p.P453P c.1359G>A 2 127809843 UCEC G A 3-UTRSNV . c.1779+149C>T 2 127805956 CM G A Missense p.A246V c.737C>T 2 127821184 HNSC G A Missense p.P551L c.1652C>T 2 127808019 CM G A Missense p.R234H c.701G>A 2 127821220 GBM G A Synonymous p.F521F c.1563C>T 2 127808387 CM G A Synonymous p.G582G c.1746C>T 2 127806138 SCLC G A Synonymous p.L517L c.1549C>T 2 127808401 CM G A Synonymous p.N288N c.864C>T 2 127816725 UCEC G A Synonymous p.P95P c.285C>T 2 127828159 CM G A Synonymous p.S569S c.1707C>T 2 127806177 BRCA G C Synonymous p.V281V c.843C>G 2 127819705 OV G T Missense p.L230M c.688C>A 2 127821519 STAD G T Synonymous p.I136I c.408C>A 2 127827574 OV G T Synonymous p.P585P c.1755C>A 2 127806129 STAD T C IntronicSNV . c.1240-44A>G 2 127811065 CM