Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 93575975 93575975 + Missense_Mutation SNP C C G TCGA-OR-A5KT-01A-11D-A29I-10 TCGA-OR-A5KT-10A-01D-A29L-10 g.chr1:93575975C>G c.194C>G c.(193-195)aCt>aGt p.T65S BLCA 1 93575839 93575839 + Nonsense_Mutation SNP C C T TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr1:93575839C>T c.58C>T c.(58-60)Cga>Tga p.R20* BLCA 1 93580289 93580289 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr1:93580289G>C c.331G>C c.(331-333)Gag>Cag p.E111Q BLCA 1 93581036 93581036 + Missense_Mutation SNP G G A TCGA-FD-A3SR-01A-11D-A22Z-08 TCGA-FD-A3SR-10A-01D-A22Z-08 g.chr1:93581036G>A c.493G>A c.(493-495)Gca>Aca p.A165T BLCA 1 93584938 93584938 + Silent SNP C C G TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr1:93584938C>G c.777C>G c.(775-777)ctC>ctG p.L259L BLCA 1 93602319 93602319 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr1:93602319G>C c.1517G>C c.(1516-1518)aGa>aCa p.R506T BLCA 1 93602500 93602500 + Silent SNP A A G TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr1:93602500A>G c.1698A>G c.(1696-1698)gaA>gaG p.E566E BRCA 1 93594862 93594862 + Silent SNP G G A TCGA-A8-A0A7-01A-11W-A019-09 TCGA-A8-A0A7-10A-01W-A021-09 g.chr1:93594862G>A c.1017G>A c.(1015-1017)aaG>aaA p.K339K BRCA 1 93594865 93594865 + Missense_Mutation SNP G G C TCGA-AO-A0JM-01A-21W-A071-09 TCGA-AO-A0JM-10A-01W-A071-09 g.chr1:93594865G>C c.1020G>C c.(1018-1020)aaG>aaC p.K340N BRCA 1 93599279 93599280 + Frame_Shift_Ins INS - - A TCGA-AR-A0U2-01A-11D-A10G-09 TCGA-AR-A0U2-10A-01D-A10G-09 g.chr1:93599279_93599280insA c.1180_1181insA c.(1180-1182)gaafs p.E394fs BRCA 1 93599740 93599740 + Missense_Mutation SNP C C G TCGA-A8-A094-01A-11W-A019-09 TCGA-A8-A094-10A-01W-A021-09 g.chr1:93599740C>G c.1412C>G c.(1411-1413)tCc>tGc p.S471C BRCA 1 93602437 93602437 + Silent SNP C C G TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 g.chr1:93602437C>G c.1635C>G c.(1633-1635)ctC>ctG p.L545L CESC 1 93583965 93583965 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:93583965A>G c.696A>G c.(694-696)caA>caG p.Q232Q COAD 1 93575788 93575788 + Splice_Site SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:93575788G>T c.7G>T c.(7-9)Gac>Tac p.D3Y COAD 1 93575840 93575840 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:93575840G>A c.59G>A c.(58-60)cGa>cAa p.R20Q COAD 1 93575850 93575850 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:93575850G>T c.69G>T c.(67-69)aaG>aaT p.K23N COAD 1 93580644 93580644 + Splice_Site SNP A A G TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:93580644A>G c.482A>G c.(481-483)aAg>aGg p.K161R COAD 1 93584949 93584949 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:93584949C>A c.788C>A c.(787-789)cCa>cAa p.P263Q COAD 1 93586105 93586105 + Splice_Site SNP G G A TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr1:93586105G>A c.e9-1 COAD 1 93586113 93586113 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:93586113A>C c.805A>C c.(805-807)Ata>Cta p.I269L COAD 1 93594885 93594885 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:93594885G>A c.1040G>A c.(1039-1041)cGa>cAa p.R347Q COAD 1 93602422 93602422 + Silent SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:93602422T>C c.1620T>C c.(1618-1620)gaT>gaC p.D540D COADREAD 1 93575788 93575788 + Splice_Site SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:93575788G>T c.7G>T c.(7-9)Gac>Tac p.D3Y COADREAD 1 93575840 93575840 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:93575840G>A c.59G>A c.(58-60)cGa>cAa p.R20Q COADREAD 1 93575840 93575840 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:93575840G>A c.59G>A c.(58-60)cGa>cAa p.R20Q COADREAD 1 93575850 93575850 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:93575850G>T c.69G>T c.(67-69)aaG>aaT p.K23N COADREAD 1 93580644 93580644 + Splice_Site SNP A A G TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:93580644A>G c.482A>G c.(481-483)aAg>aGg p.K161R COADREAD 1 93584949 93584949 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:93584949C>A c.788C>A c.(787-789)cCa>cAa p.P263Q COADREAD 1 93586105 93586105 + Splice_Site SNP G G A TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr1:93586105G>A c.e9-1 COADREAD 1 93586113 93586113 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:93586113A>C c.805A>C c.(805-807)Ata>Cta p.I269L COADREAD 1 93594851 93594851 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:93594851G>T c.1006G>T c.(1006-1008)Gaa>Taa p.E336* COADREAD 1 93594885 93594885 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:93594885G>A c.1040G>A c.(1039-1041)cGa>cAa p.R347Q COADREAD 1 93599333 93599333 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:93599333A>C c.1234A>C c.(1234-1236)Aaa>Caa p.K412Q COADREAD 1 93602422 93602422 + Silent SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:93602422T>C c.1620T>C c.(1618-1620)gaT>gaC p.D540D ESCA 1 93575872 93575872 + Silent SNP C C T TCGA-V5-AASW-01A-11D-A403-09 TCGA-V5-AASW-10A-01D-A403-09 g.chr1:93575872C>T c.91C>T c.(91-93)Ctg>Ttg p.L31L ESCA 1 93599533 93599533 + Missense_Mutation SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 g.chr1:93599533A>G c.1315A>G c.(1315-1317)Ata>Gta p.I439V GBMLGG 1 93594929 93594929 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:93594929G>T c.1084G>T c.(1084-1086)Gag>Tag p.E362* GBMLGG 1 93602428 93602428 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:93602428G>A c.1626G>A c.(1624-1626)gaG>gaA p.E542E HNSC 1 93575922 93575922 + Missense_Mutation SNP A A T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 g.chr1:93575922A>T c.141A>T c.(139-141)gaA>gaT p.E47D HNSC 1 93576131 93576131 + Silent SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr1:93576131C>T c.234C>T c.(232-234)atC>atT p.I78I HNSC 1 93602313 93602313 + Missense_Mutation SNP C C A TCGA-CN-5361-01A-01D-1434-08 TCGA-CN-5361-10A-01D-1434-08 g.chr1:93602313C>A c.1511C>A c.(1510-1512)cCa>cAa p.P504Q HNSC 1 93602558 93602558 + Missense_Mutation SNP G G C TCGA-CN-6988-01A-11D-1912-08 TCGA-CN-6988-10A-01D-1912-08 g.chr1:93602558G>C c.1756G>C c.(1756-1758)Gaa>Caa p.E586Q LGG 1 93594929 93594929 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:93594929G>T c.1084G>T c.(1084-1086)Gag>Tag p.E362* LGG 1 93602428 93602428 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:93602428G>A c.1626G>A c.(1624-1626)gaG>gaA p.E542E LIHC 1 93545089 93545089 + Splice_Site SNP G G T TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr1:93545089G>T c.e1+1 LIHC 1 93575851 93575851 + Missense_Mutation SNP A A G TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr1:93575851A>G c.70A>G c.(70-72)Acc>Gcc p.T24A LIHC 1 93599749 93599749 + Frame_Shift_Del DEL A A - TCGA-DD-A115-01A-11D-A12Z-10 TCGA-DD-A115-10A-01D-A12Z-10 g.chr1:93599749delA c.1421delA c.(1420-1422)tatfs p.Y474fs LUAD 1 93586141 93586141 + Missense_Mutation SNP G G T TCGA-55-6972-01A-11D-1945-08 TCGA-55-6972-11A-01D-1945-08 g.chr1:93586141G>T c.833G>T c.(832-834)aGt>aTt p.S278I LUAD 1 93602318 93602327 + Frame_Shift_Del DEL AGAGCACTCC AGAGCACTCC - TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 g.chr1:93602318_93602327delAGAGCACTCC c.1516_1525delAGAGCACTCC c.(1516-1527)agagcactccagfs p.RALQ506fs LUAD 1 93602423 93602423 + Nonsense_Mutation SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr1:93602423C>T c.1621C>T c.(1621-1623)Cag>Tag p.Q541* LUSC 1 93599277 93599277 + Missense_Mutation SNP T T C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr1:93599277T>C c.1178T>C c.(1177-1179)aTa>aCa p.I393T LUSC 1 93602335 93602335 + Missense_Mutation SNP G G T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr1:93602335G>T c.1533G>T c.(1531-1533)caG>caT p.Q511H OV 1 93580643 93580643 + Missense_Mutation SNP A A C TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 g.chr1:93580643A>C c.481A>C c.(481-483)Aag>Cag p.K161Q OV 1 93586126 93586126 + Missense_Mutation SNP G G C TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 g.chr1:93586126G>C c.818G>C c.(817-819)tGc>tCc p.C273S OV 1 93602348 93602348 + Missense_Mutation SNP G G T TCGA-23-1026-01B-01W-0484-10 TCGA-23-1026-10A-01W-0484-10 g.chr1:93602348G>T c.1546G>T c.(1546-1548)Gta>Tta p.V516L PAAD 1 93586135 93586135 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:93586135A>C c.827A>C c.(826-828)aAc>aCc p.N276T READ 1 93575840 93575840 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:93575840G>A c.59G>A c.(58-60)cGa>cAa p.R20Q READ 1 93594851 93594851 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:93594851G>T c.1006G>T c.(1006-1008)Gaa>Taa p.E336* READ 1 93599333 93599333 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:93599333A>C c.1234A>C c.(1234-1236)Aaa>Caa p.K412Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 93586117 93586117 single base substitution C T downstream_gene_variant BLCA-CN 1 93586117 93586117 single base substitution C T exon_variant BLCA-CN 1 93586117 93586117 single base substitution C T intron_variant BLCA-CN 1 93586117 93586117 single base substitution C T missense_variant A168V 503C>T BLCA-CN 1 93586117 93586117 single base substitution C T missense_variant A270V 809C>T BLCA-CN 1 93586117 93586117 single base substitution C T upstream_gene_variant BLCA-US 1 93580289 93580289 single base substitution G C exon_variant BLCA-US 1 93580289 93580289 single base substitution G C missense_variant E111Q 331G>C BLCA-US 1 93580289 93580289 single base substitution G C missense_variant E9Q 25G>C BLCA-US 1 93580289 93580289 single base substitution G C upstream_gene_variant BLCA-US 1 93581036 93581036 single base substitution G A exon_variant BLCA-US 1 93581036 93581036 single base substitution G A missense_variant A165T 493G>A BLCA-US 1 93581036 93581036 single base substitution G A missense_variant A63T 187G>A BLCA-US 1 93581036 93581036 single base substitution G A upstream_gene_variant BLCA-US 1 93602319 93602319 single base substitution G C downstream_gene_variant BLCA-US 1 93602319 93602319 single base substitution G C exon_variant BLCA-US 1 93602319 93602319 single base substitution G C missense_variant R404T 1211G>C BLCA-US 1 93602319 93602319 single base substitution G C missense_variant R449T 1346G>C BLCA-US 1 93602319 93602319 single base substitution G C missense_variant R506T 1517G>C BRCA-EU 1 93539937 93539937 single base substitution C A upstream_gene_variant BRCA-EU 1 93539959 93539959 single base substitution G A upstream_gene_variant BRCA-EU 1 93541208 93541208 single base substitution C G upstream_gene_variant BRCA-EU 1 93541579 93541579 single base substitution C T upstream_gene_variant BRCA-EU 1 93541676 93541676 single base substitution G A upstream_gene_variant BRCA-EU 1 93542446 93542446 single base substitution G A upstream_gene_variant BRCA-EU 1 93542616 93542616 single base substitution C G upstream_gene_variant BRCA-EU 1 93542825 93542825 single base substitution G T upstream_gene_variant BRCA-EU 1 93543232 93543232 single base substitution G T upstream_gene_variant BRCA-EU 1 93543436 93543436 single base substitution A G upstream_gene_variant BRCA-EU 1 93543730 93543730 single base substitution G A upstream_gene_variant BRCA-EU 1 93544679 93544690 deletion of <=200bp AGCCTCACTGCA - upstream_gene_variant BRCA-EU 1 93544849 93544849 single base substitution G T 5_prime_UTR_variant BRCA-EU 1 93544849 93544849 single base substitution G T exon_variant BRCA-EU 1 93544849 93544849 single base substitution G T upstream_gene_variant BRCA-EU 1 93545160 93545160 single base substitution G C intron_variant BRCA-EU 1 93546250 93546250 single base substitution T C intron_variant BRCA-EU 1 93546998 93546998 single base substitution C T intron_variant BRCA-EU 1 93548728 93548728 single base substitution G C intron_variant BRCA-EU 1 93549264 93549264 single base substitution C T intron_variant BRCA-EU 1 93552136 93552136 single base substitution G C intron_variant BRCA-EU 1 93554871 93554871 single base substitution T C intron_variant BRCA-EU 1 93555165 93555165 single base substitution C G intron_variant BRCA-EU 1 93555944 93555944 single base substitution C T intron_variant BRCA-EU 1 93556163 93556163 single base substitution A G intron_variant BRCA-EU 1 93556813 93556813 insertion of <=200bp - T intron_variant BRCA-EU 1 93557794 93557794 single base substitution A C intron_variant BRCA-EU 1 93558716 93558716 single base substitution G A intron_variant BRCA-EU 1 93559038 93559038 single base substitution G T intron_variant BRCA-EU 1 93560579 93560579 deletion of <=200bp T - intron_variant BRCA-EU 1 93560771 93560771 deletion of <=200bp T - intron_variant BRCA-EU 1 93563120 93563120 deletion of <=200bp A - intron_variant BRCA-EU 1 93563164 93563164 deletion of <=200bp T - intron_variant BRCA-EU 1 93565480 93565480 single base substitution T C intron_variant BRCA-EU 1 93566794 93566794 single base substitution C G intron_variant BRCA-EU 1 93567356 93567356 single base substitution A G intron_variant BRCA-EU 1 93567837 93567837 single base substitution C T intron_variant BRCA-EU 1 93567843 93567843 single base substitution C A intron_variant BRCA-EU 1 93569169 93569169 single base substitution C T intron_variant BRCA-EU 1 93569603 93569603 single base substitution C G intron_variant BRCA-EU 1 93569956 93569956 single base substitution C G intron_variant BRCA-EU 1 93571947 93571947 single base substitution C T intron_variant BRCA-EU 1 93571947 93571947 single base substitution C T upstream_gene_variant BRCA-EU 1 93572906 93572906 single base substitution C T intron_variant BRCA-EU 1 93572906 93572906 single base substitution C T upstream_gene_variant BRCA-EU 1 93573907 93573907 single base substitution A C intron_variant BRCA-EU 1 93573907 93573907 single base substitution A C upstream_gene_variant BRCA-EU 1 93574429 93574429 single base substitution C G intron_variant BRCA-EU 1 93574429 93574429 single base substitution C G upstream_gene_variant BRCA-EU 1 93574885 93574885 deletion of <=200bp T - intron_variant BRCA-EU 1 93574885 93574885 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 93574989 93574989 single base substitution C G intron_variant BRCA-EU 1 93574989 93574989 single base substitution C G upstream_gene_variant BRCA-EU 1 93575088 93575088 single base substitution C A intron_variant BRCA-EU 1 93575088 93575088 single base substitution C A upstream_gene_variant BRCA-EU 1 93575088 93575088 single base substitution C T intron_variant BRCA-EU 1 93575088 93575088 single base substitution C T upstream_gene_variant BRCA-EU 1 93575612 93575612 single base substitution C G intron_variant BRCA-EU 1 93575612 93575612 single base substitution C G upstream_gene_variant BRCA-EU 1 93575897 93575897 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 93575897 93575897 single base substitution C T exon_variant BRCA-EU 1 93575897 93575897 single base substitution C T intron_variant BRCA-EU 1 93575897 93575897 single base substitution C T missense_variant A39V 116C>T BRCA-EU 1 93575897 93575897 single base substitution C T upstream_gene_variant BRCA-EU 1 93577000 93577000 single base substitution A G intron_variant BRCA-EU 1 93577552 93577552 deletion of <=200bp C - intron_variant BRCA-EU 1 93577713 93577713 single base substitution G A intron_variant BRCA-EU 1 93577746 93577746 single base substitution C G intron_variant BRCA-EU 1 93577895 93577895 single base substitution C G intron_variant BRCA-EU 1 93577967 93577967 single base substitution C G intron_variant BRCA-EU 1 93578237 93578237 insertion of <=200bp - A intron_variant BRCA-EU 1 93578864 93578907 deletion of <=200bp GAAGTCAAGGCTGCAGTGAGCTGTGGCTGTGCCACTGCACTCCA - intron_variant BRCA-EU 1 93578864 93578907 deletion of <=200bp GAAGTCAAGGCTGCAGTGAGCTGTGGCTGTGCCACTGCACTCCA - upstream_gene_variant BRCA-EU 1 93580213 93580214 deletion of <=200bp CT - intron_variant BRCA-EU 1 93580213 93580214 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 1 93582693 93582693 single base substitution A G downstream_gene_variant BRCA-EU 1 93582693 93582693 single base substitution A G intron_variant BRCA-EU 1 93582693 93582693 single base substitution A G upstream_gene_variant BRCA-EU 1 93582886 93582886 single base substitution G C downstream_gene_variant BRCA-EU 1 93582886 93582886 single base substitution G C intron_variant BRCA-EU 1 93582886 93582886 single base substitution G C upstream_gene_variant BRCA-EU 1 93583100 93583100 single base substitution G C downstream_gene_variant BRCA-EU 1 93583100 93583100 single base substitution G C intron_variant BRCA-EU 1 93583100 93583100 single base substitution G C upstream_gene_variant BRCA-EU 1 93583582 93583582 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 93583582 93583582 deletion of <=200bp A - intron_variant BRCA-EU 1 93583582 93583582 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 93583808 93583808 single base substitution G A downstream_gene_variant BRCA-EU 1 93583808 93583808 single base substitution G A intron_variant BRCA-EU 1 93583808 93583808 single base substitution G A upstream_gene_variant BRCA-EU 1 93585329 93585329 single base substitution G A downstream_gene_variant BRCA-EU 1 93585329 93585329 single base substitution G A exon_variant BRCA-EU 1 93585329 93585329 single base substitution G A intron_variant BRCA-EU 1 93585329 93585329 single base substitution G A upstream_gene_variant BRCA-EU 1 93585580 93585580 single base substitution C T downstream_gene_variant BRCA-EU 1 93585580 93585580 single base substitution C T exon_variant BRCA-EU 1 93585580 93585580 single base substitution C T intron_variant BRCA-EU 1 93585580 93585580 single base substitution C T upstream_gene_variant BRCA-EU 1 93585980 93585980 single base substitution T C downstream_gene_variant BRCA-EU 1 93585980 93585980 single base substitution T C intron_variant BRCA-EU 1 93585980 93585980 single base substitution T C upstream_gene_variant BRCA-EU 1 93586386 93586386 single base substitution G C downstream_gene_variant BRCA-EU 1 93586386 93586386 single base substitution G C exon_variant BRCA-EU 1 93586386 93586386 single base substitution G C intron_variant BRCA-EU 1 93587012 93587012 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 93587012 93587012 deletion of <=200bp T - intron_variant BRCA-EU 1 93587301 93587301 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 93587301 93587301 deletion of <=200bp T - intron_variant BRCA-EU 1 93589328 93589328 single base substitution C T downstream_gene_variant BRCA-EU 1 93589328 93589328 single base substitution C T intron_variant BRCA-EU 1 93589657 93589657 single base substitution G A downstream_gene_variant BRCA-EU 1 93589657 93589657 single base substitution G A intron_variant BRCA-EU 1 93589657 93589657 single base substitution G A upstream_gene_variant BRCA-EU 1 93589778 93589778 single base substitution A G downstream_gene_variant BRCA-EU 1 93589778 93589778 single base substitution A G intron_variant BRCA-EU 1 93589778 93589778 single base substitution A G upstream_gene_variant BRCA-EU 1 93590390 93590390 single base substitution A T downstream_gene_variant BRCA-EU 1 93590390 93590390 single base substitution A T intron_variant BRCA-EU 1 93590390 93590390 single base substitution A T upstream_gene_variant BRCA-EU 1 93594786 93594787 deletion of <=200bp TA - exon_variant BRCA-EU 1 93594786 93594787 deletion of <=200bp TA - intron_variant BRCA-EU 1 93594856 93594856 single base substitution A G exon_variant BRCA-EU 1 93594856 93594856 single base substitution A G intron_variant BRCA-EU 1 93594856 93594856 single base substitution A G missense_variant I235M 705A>G BRCA-EU 1 93594856 93594856 single base substitution A G missense_variant I337M 1011A>G BRCA-EU 1 93595235 93595236 deletion of <=200bp TT - intron_variant BRCA-EU 1 93596667 93596667 single base substitution C T intron_variant BRCA-EU 1 93597846 93597846 single base substitution C G intron_variant BRCA-EU 1 93598310 93598310 single base substitution C G intron_variant BRCA-EU 1 93598480 93598484 deletion of <=200bp ATATC - intron_variant BRCA-EU 1 93600735 93600735 single base substitution G C downstream_gene_variant BRCA-EU 1 93600735 93600735 single base substitution G C intron_variant BRCA-EU 1 93601207 93601207 single base substitution A G downstream_gene_variant BRCA-EU 1 93601207 93601207 single base substitution A G intron_variant BRCA-EU 1 93601939 93601939 deletion of <=200bp C - downstream_gene_variant BRCA-EU 1 93601939 93601939 deletion of <=200bp C - intron_variant BRCA-EU 1 93603776 93603776 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 93603776 93603776 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 93604167 93604167 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 93604167 93604167 single base substitution A G downstream_gene_variant BRCA-EU 1 93605827 93605827 single base substitution G A downstream_gene_variant BRCA-EU 1 93606552 93606552 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 93607402 93607402 single base substitution G A downstream_gene_variant BRCA-EU 1 93607426 93607426 single base substitution G A downstream_gene_variant BRCA-EU 1 93607524 93607524 single base substitution T A downstream_gene_variant BRCA-EU 1 93607765 93607765 single base substitution A G downstream_gene_variant BRCA-EU 1 93609420 93609420 single base substitution G T downstream_gene_variant BRCA-FR 1 93541676 93541676 single base substitution G A upstream_gene_variant BRCA-FR 1 93542825 93542825 single base substitution G T upstream_gene_variant BRCA-FR 1 93563156 93563156 single base substitution T A intron_variant BRCA-FR 1 93569956 93569956 single base substitution C G intron_variant BRCA-FR 1 93575088 93575088 single base substitution C T intron_variant BRCA-FR 1 93575088 93575088 single base substitution C T upstream_gene_variant BRCA-FR 1 93577746 93577746 single base substitution C G intron_variant BRCA-FR 1 93581877 93581877 single base substitution G A downstream_gene_variant BRCA-FR 1 93581877 93581877 single base substitution G A intron_variant BRCA-FR 1 93581877 93581877 single base substitution G A upstream_gene_variant BRCA-FR 1 93582886 93582886 single base substitution G C downstream_gene_variant BRCA-FR 1 93582886 93582886 single base substitution G C intron_variant BRCA-FR 1 93582886 93582886 single base substitution G C upstream_gene_variant BRCA-FR 1 93583100 93583100 single base substitution G C downstream_gene_variant BRCA-FR 1 93583100 93583100 single base substitution G C intron_variant BRCA-FR 1 93583100 93583100 single base substitution G C upstream_gene_variant BRCA-FR 1 93589328 93589328 single base substitution C T downstream_gene_variant BRCA-FR 1 93589328 93589328 single base substitution C T intron_variant BRCA-FR 1 93589657 93589657 single base substitution G A downstream_gene_variant BRCA-FR 1 93589657 93589657 single base substitution G A intron_variant BRCA-FR 1 93589657 93589657 single base substitution G A upstream_gene_variant BRCA-FR 1 93597846 93597846 single base substitution C G intron_variant BRCA-FR 1 93601207 93601207 single base substitution A G downstream_gene_variant BRCA-FR 1 93601207 93601207 single base substitution A G intron_variant BRCA-UK 1 93565480 93565480 single base substitution T C intron_variant BRCA-US 1 93584984 93584984 single base substitution G T downstream_gene_variant BRCA-US 1 93584984 93584984 single base substitution G T exon_variant BRCA-US 1 93584984 93584984 single base substitution G T intron_variant BRCA-US 1 93584984 93584984 single base substitution G T upstream_gene_variant BRCA-US 1 93594862 93594862 single base substitution G A exon_variant BRCA-US 1 93594862 93594862 single base substitution G A intron_variant BRCA-US 1 93594862 93594862 single base substitution G A synonymous_variant K237K 711G>A BRCA-US 1 93594862 93594862 single base substitution G A synonymous_variant K339K 1017G>A BRCA-US 1 93594865 93594865 single base substitution G C exon_variant BRCA-US 1 93594865 93594865 single base substitution G C intron_variant BRCA-US 1 93594865 93594865 single base substitution G C missense_variant K238N 714G>C BRCA-US 1 93594865 93594865 single base substitution G C missense_variant K340N 1020G>C BRCA-US 1 93599279 93599279 insertion of <=200bp - A exon_variant BRCA-US 1 93599279 93599279 insertion of <=200bp - A frameshift_variant E292R? BRCA-US 1 93599279 93599279 insertion of <=200bp - A frameshift_variant E337R? BRCA-US 1 93599279 93599279 insertion of <=200bp - A frameshift_variant E394R? BRCA-US 1 93599740 93599740 single base substitution C G downstream_gene_variant BRCA-US 1 93599740 93599740 single base substitution C G exon_variant BRCA-US 1 93599740 93599740 single base substitution C G missense_variant S369C 1106C>G BRCA-US 1 93599740 93599740 single base substitution C G missense_variant S414C 1241C>G BRCA-US 1 93599740 93599740 single base substitution C G missense_variant S471C 1412C>G BRCA-US 1 93602437 93602437 single base substitution C G downstream_gene_variant BRCA-US 1 93602437 93602437 single base substitution C G exon_variant BRCA-US 1 93602437 93602437 single base substitution C G synonymous_variant L443L 1329C>G BRCA-US 1 93602437 93602437 single base substitution C G synonymous_variant L488L 1464C>G BRCA-US 1 93602437 93602437 single base substitution C G synonymous_variant L545L 1635C>G BTCA-JP 1 93584871 93584871 deletion of <=200bp T - downstream_gene_variant BTCA-JP 1 93584871 93584871 deletion of <=200bp T - intron_variant BTCA-JP 1 93584871 93584871 deletion of <=200bp T - upstream_gene_variant BTCA-JP 1 93594857 93594859 deletion of <=200bp AAG - exon_variant BTCA-JP 1 93594857 93594859 deletion of <=200bp AAG - inframe_deletion K236 BTCA-JP 1 93594857 93594859 deletion of <=200bp AAG - inframe_deletion K338 BTCA-JP 1 93594857 93594859 deletion of <=200bp AAG - intron_variant BTCA-JP 1 93599294 93599294 deletion of <=200bp A - exon_variant BTCA-JP 1 93599294 93599294 deletion of <=200bp A - frameshift_variant K297 BTCA-JP 1 93599294 93599294 deletion of <=200bp A - frameshift_variant K342 BTCA-JP 1 93599294 93599294 deletion of <=200bp A - frameshift_variant K399 BTCA-JP 1 93599773 93599773 deletion of <=200bp T - downstream_gene_variant BTCA-JP 1 93599773 93599773 deletion of <=200bp T - exon_variant BTCA-JP 1 93599773 93599773 deletion of <=200bp T - intron_variant BTCA-JP 1 93602309 93602309 single base substitution C G downstream_gene_variant BTCA-JP 1 93602309 93602309 single base substitution C G exon_variant BTCA-JP 1 93602309 93602309 single base substitution C G missense_variant L401V 1201C>G BTCA-JP 1 93602309 93602309 single base substitution C G missense_variant L446V 1336C>G BTCA-JP 1 93602309 93602309 single base substitution C G missense_variant L503V 1507C>G CESC-US 1 93583965 93583965 single base substitution A G downstream_gene_variant CESC-US 1 93583965 93583965 single base substitution A G exon_variant CESC-US 1 93583965 93583965 single base substitution A G synonymous_variant Q130Q 390A>G CESC-US 1 93583965 93583965 single base substitution A G synonymous_variant Q232Q 696A>G CESC-US 1 93583965 93583965 single base substitution A G upstream_gene_variant CLLE-ES 1 93580878 93580878 single base substitution A G intron_variant CLLE-ES 1 93580878 93580878 single base substitution A G upstream_gene_variant CLLE-ES 1 93581497 93581497 single base substitution T A downstream_gene_variant CLLE-ES 1 93581497 93581497 single base substitution T A intron_variant CLLE-ES 1 93581497 93581497 single base substitution T A upstream_gene_variant CLLE-ES 1 93605091 93605091 single base substitution C A downstream_gene_variant COAD-US 1 93575840 93575840 single base substitution G A exon_variant COAD-US 1 93575840 93575840 single base substitution G A intron_variant COAD-US 1 93575840 93575840 single base substitution G A missense_variant R20Q 59G>A COAD-US 1 93575840 93575840 single base substitution G A upstream_gene_variant COAD-US 1 93584949 93584949 single base substitution C A downstream_gene_variant COAD-US 1 93584949 93584949 single base substitution C A exon_variant COAD-US 1 93584949 93584949 single base substitution C A missense_variant P161Q 482C>A COAD-US 1 93584949 93584949 single base substitution C A missense_variant P263Q 788C>A COAD-US 1 93584949 93584949 single base substitution C A upstream_gene_variant COAD-US 1 93586105 93586105 single base substitution G A downstream_gene_variant COAD-US 1 93586105 93586105 single base substitution G A intron_variant COAD-US 1 93586105 93586105 single base substitution G A splice_acceptor_variant COAD-US 1 93586105 93586105 single base substitution G A upstream_gene_variant COAD-US 1 93586113 93586113 single base substitution A C downstream_gene_variant COAD-US 1 93586113 93586113 single base substitution A C exon_variant COAD-US 1 93586113 93586113 single base substitution A C intron_variant COAD-US 1 93586113 93586113 single base substitution A C missense_variant I167L 499A>C COAD-US 1 93586113 93586113 single base substitution A C missense_variant I269L 805A>C COAD-US 1 93586113 93586113 single base substitution A C upstream_gene_variant COAD-US 1 93599280 93599280 deletion of <=200bp A - exon_variant COAD-US 1 93599280 93599280 deletion of <=200bp A - frameshift_variant E292 COAD-US 1 93599280 93599280 deletion of <=200bp A - frameshift_variant E337 COAD-US 1 93599280 93599280 deletion of <=200bp A - frameshift_variant E394 COAD-US 1 93602422 93602422 single base substitution T C downstream_gene_variant COAD-US 1 93602422 93602422 single base substitution T C exon_variant COAD-US 1 93602422 93602422 single base substitution T C synonymous_variant D438D 1314T>C COAD-US 1 93602422 93602422 single base substitution T C synonymous_variant D483D 1449T>C COAD-US 1 93602422 93602422 single base substitution T C synonymous_variant D540D 1620T>C COCA-CN 1 93580181 93580181 single base substitution A C intron_variant COCA-CN 1 93580181 93580181 single base substitution A C upstream_gene_variant COCA-CN 1 93580264 93580264 single base substitution A G 5_prime_UTR_variant COCA-CN 1 93580264 93580264 single base substitution A G exon_variant COCA-CN 1 93580264 93580264 single base substitution A G synonymous_variant E102E 306A>G COCA-CN 1 93580264 93580264 single base substitution A G upstream_gene_variant COCA-CN 1 93599332 93599332 single base substitution A G downstream_gene_variant COCA-CN 1 93599332 93599332 single base substitution A G exon_variant COCA-CN 1 93599332 93599332 single base substitution A G synonymous_variant R309R 927A>G COCA-CN 1 93599332 93599332 single base substitution A G synonymous_variant R354R 1062A>G COCA-CN 1 93599332 93599332 single base substitution A G synonymous_variant R411R 1233A>G COCA-CN 1 93599650 93599650 single base substitution G A downstream_gene_variant COCA-CN 1 93599650 93599650 single base substitution G A missense_variant R339K 1016G>A COCA-CN 1 93599650 93599650 single base substitution G A missense_variant R384K 1151G>A COCA-CN 1 93599650 93599650 single base substitution G A missense_variant R441K 1322G>A COCA-CN 1 93599650 93599650 single base substitution G A splice_region_variant COCA-CN 1 93599783 93599783 single base substitution T C downstream_gene_variant COCA-CN 1 93599783 93599783 single base substitution T C exon_variant COCA-CN 1 93599783 93599783 single base substitution T C intron_variant COCA-CN 1 93602498 93602498 single base substitution G A downstream_gene_variant COCA-CN 1 93602498 93602498 single base substitution G A exon_variant COCA-CN 1 93602498 93602498 single base substitution G A missense_variant E464K 1390G>A COCA-CN 1 93602498 93602498 single base substitution G A missense_variant E509K 1525G>A COCA-CN 1 93602498 93602498 single base substitution G A missense_variant E566K 1696G>A EOPC-DE 1 93572264 93572264 single base substitution C T intron_variant EOPC-DE 1 93572264 93572264 single base substitution C T upstream_gene_variant ESAD-UK 1 93543004 93543004 insertion of <=200bp - T upstream_gene_variant ESAD-UK 1 93543009 93543009 single base substitution T C upstream_gene_variant ESAD-UK 1 93544661 93544661 single base substitution C T upstream_gene_variant ESAD-UK 1 93544726 93544726 single base substitution G C upstream_gene_variant ESAD-UK 1 93544760 93544760 single base substitution G C upstream_gene_variant ESAD-UK 1 93545466 93545466 single base substitution G A intron_variant ESAD-UK 1 93550509 93550509 single base substitution C T intron_variant ESAD-UK 1 93552580 93552580 single base substitution T C intron_variant ESAD-UK 1 93554444 93554444 single base substitution A T intron_variant ESAD-UK 1 93555949 93555949 single base substitution G A intron_variant ESAD-UK 1 93556086 93556086 single base substitution T C intron_variant ESAD-UK 1 93563044 93563044 single base substitution G T intron_variant ESAD-UK 1 93564981 93564981 single base substitution C T intron_variant ESAD-UK 1 93568949 93568949 single base substitution A T intron_variant ESAD-UK 1 93576136 93576136 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 1 93576136 93576136 single base substitution T G exon_variant ESAD-UK 1 93576136 93576136 single base substitution T G intron_variant ESAD-UK 1 93576136 93576136 single base substitution T G missense_variant F80C 239T>G ESAD-UK 1 93576420 93576420 single base substitution G A intron_variant ESAD-UK 1 93576925 93576925 single base substitution G C intron_variant ESAD-UK 1 93578513 93578513 single base substitution C T intron_variant ESAD-UK 1 93578916 93578916 single base substitution G A intron_variant ESAD-UK 1 93578916 93578916 single base substitution G A upstream_gene_variant ESAD-UK 1 93579430 93579430 single base substitution T G intron_variant ESAD-UK 1 93579430 93579430 single base substitution T G upstream_gene_variant ESAD-UK 1 93582188 93582188 single base substitution G A downstream_gene_variant ESAD-UK 1 93582188 93582188 single base substitution G A intron_variant ESAD-UK 1 93582188 93582188 single base substitution G A upstream_gene_variant ESAD-UK 1 93585025 93585025 single base substitution C G downstream_gene_variant ESAD-UK 1 93585025 93585025 single base substitution C G exon_variant ESAD-UK 1 93585025 93585025 single base substitution C G intron_variant ESAD-UK 1 93585025 93585025 single base substitution C G upstream_gene_variant ESAD-UK 1 93588902 93588902 single base substitution G A downstream_gene_variant ESAD-UK 1 93588902 93588902 single base substitution G A intron_variant ESAD-UK 1 93588960 93588960 single base substitution G A downstream_gene_variant ESAD-UK 1 93588960 93588960 single base substitution G A intron_variant ESAD-UK 1 93594188 93594188 single base substitution A G intron_variant ESAD-UK 1 93594188 93594188 single base substitution A G upstream_gene_variant ESAD-UK 1 93594430 93594430 single base substitution A C exon_variant ESAD-UK 1 93594430 93594430 single base substitution A C intron_variant ESAD-UK 1 93596688 93596688 single base substitution G A intron_variant ESAD-UK 1 93605734 93605734 single base substitution G C downstream_gene_variant ESAD-UK 1 93605892 93605904 deletion of <=200bp TTTTTAAGCCCTG - downstream_gene_variant ESAD-UK 1 93607497 93607497 single base substitution G C downstream_gene_variant ESCA-CN 1 93584885 93584885 single base substitution C T downstream_gene_variant ESCA-CN 1 93584885 93584885 single base substitution C T intron_variant ESCA-CN 1 93584885 93584885 single base substitution C T splice_region_variant ESCA-CN 1 93584885 93584885 single base substitution C T upstream_gene_variant ESCA-CN 1 93592810 93592810 single base substitution G A exon_variant ESCA-CN 1 93592810 93592810 single base substitution G A intron_variant ESCA-CN 1 93592810 93592810 single base substitution G A missense_variant E213K 637G>A ESCA-CN 1 93592810 93592810 single base substitution G A missense_variant E315K 943G>A ESCA-CN 1 93592810 93592810 single base substitution G A upstream_gene_variant LAML-KR 1 93569460 93569460 single base substitution G A intron_variant LAML-KR 1 93583841 93583841 single base substitution G A downstream_gene_variant LAML-KR 1 93583841 93583841 single base substitution G A intron_variant LAML-KR 1 93583841 93583841 single base substitution G A upstream_gene_variant LAML-KR 1 93589354 93589354 single base substitution A T downstream_gene_variant LAML-KR 1 93589354 93589354 single base substitution A T intron_variant LAML-KR 1 93589354 93589354 single base substitution A T upstream_gene_variant LICA-CN 1 93575869 93575869 single base substitution A G exon_variant LICA-CN 1 93575869 93575869 single base substitution A G intron_variant LICA-CN 1 93575869 93575869 single base substitution A G missense_variant K30E 88A>G LICA-CN 1 93575869 93575869 single base substitution A G upstream_gene_variant LICA-FR 1 93570235 93570236 deletion of <=200bp AA - intron_variant LICA-FR 1 93574883 93574883 single base substitution C T intron_variant LICA-FR 1 93574883 93574883 single base substitution C T upstream_gene_variant LIHC-US 1 93545089 93545089 single base substitution G T splice_donor_variant LIHC-US 1 93599749 93599749 deletion of <=200bp A - downstream_gene_variant LIHC-US 1 93599749 93599749 deletion of <=200bp A - exon_variant LIHC-US 1 93599749 93599749 deletion of <=200bp A - frameshift_variant Y372 LIHC-US 1 93599749 93599749 deletion of <=200bp A - frameshift_variant Y417 LIHC-US 1 93599749 93599749 deletion of <=200bp A - frameshift_variant Y474 LINC-JP 1 93544983 93544983 single base substitution C T 5_prime_UTR_variant LINC-JP 1 93544983 93544983 single base substitution C T exon_variant LINC-JP 1 93575849 93575849 single base substitution A T exon_variant LINC-JP 1 93575849 93575849 single base substitution A T intron_variant LINC-JP 1 93575849 93575849 single base substitution A T missense_variant K23M 68A>T LINC-JP 1 93575849 93575849 single base substitution A T upstream_gene_variant LINC-JP 1 93577304 93577304 single base substitution A T intron_variant LINC-JP 1 93577646 93577646 single base substitution G A intron_variant LINC-JP 1 93583997 93583997 single base substitution G A downstream_gene_variant LINC-JP 1 93583997 93583997 single base substitution G A missense_variant R141K 422G>A LINC-JP 1 93583997 93583997 single base substitution G A missense_variant R243K 728G>A LINC-JP 1 93583997 93583997 single base substitution G A splice_region_variant LINC-JP 1 93583997 93583997 single base substitution G A upstream_gene_variant LINC-JP 1 93589328 93589328 single base substitution C T downstream_gene_variant LINC-JP 1 93589328 93589328 single base substitution C T intron_variant LINC-JP 1 93599613 93599613 single base substitution A G downstream_gene_variant LINC-JP 1 93599613 93599613 single base substitution A G intron_variant LINC-JP 1 93609160 93609160 single base substitution T A downstream_gene_variant LIRI-JP 1 93540681 93540681 single base substitution G A upstream_gene_variant LIRI-JP 1 93542870 93542870 single base substitution C A upstream_gene_variant LIRI-JP 1 93545605 93545605 single base substitution C G intron_variant LIRI-JP 1 93547715 93547715 single base substitution T C intron_variant LIRI-JP 1 93548946 93548946 single base substitution A G intron_variant LIRI-JP 1 93549727 93549727 single base substitution G T intron_variant LIRI-JP 1 93550549 93550549 single base substitution C T intron_variant LIRI-JP 1 93551824 93551824 single base substitution G T intron_variant LIRI-JP 1 93555044 93555044 single base substitution G A intron_variant LIRI-JP 1 93556571 93556571 single base substitution A G intron_variant LIRI-JP 1 93566195 93566195 single base substitution G A intron_variant LIRI-JP 1 93566302 93566302 single base substitution G T intron_variant LIRI-JP 1 93566401 93566406 deletion of <=200bp TTCCCT - intron_variant LIRI-JP 1 93566589 93566589 single base substitution T A intron_variant LIRI-JP 1 93567621 93567621 single base substitution G A intron_variant LIRI-JP 1 93570649 93570649 single base substitution C T intron_variant LIRI-JP 1 93570953 93570953 single base substitution A T intron_variant LIRI-JP 1 93570953 93570953 single base substitution A T upstream_gene_variant LIRI-JP 1 93571575 93571575 single base substitution C T intron_variant LIRI-JP 1 93571575 93571575 single base substitution C T upstream_gene_variant LIRI-JP 1 93574050 93574050 single base substitution A G intron_variant LIRI-JP 1 93574050 93574050 single base substitution A G upstream_gene_variant LIRI-JP 1 93574258 93574258 single base substitution C A intron_variant LIRI-JP 1 93574258 93574258 single base substitution C A upstream_gene_variant LIRI-JP 1 93575612 93575612 single base substitution C T intron_variant LIRI-JP 1 93575612 93575612 single base substitution C T upstream_gene_variant LIRI-JP 1 93576056 93576056 single base substitution T G intron_variant LIRI-JP 1 93577961 93577961 single base substitution A G intron_variant LIRI-JP 1 93578478 93578478 single base substitution T C intron_variant LIRI-JP 1 93578584 93578631 deletion of <=200bp TCTCATGATCGGAACCATAAACCCAGAAGCTATGGGAGACCACCTTCA - intron_variant LIRI-JP 1 93578634 93578634 single base substitution G A intron_variant LIRI-JP 1 93578691 93578691 single base substitution C G intron_variant LIRI-JP 1 93579450 93579450 single base substitution A G intron_variant LIRI-JP 1 93579450 93579450 single base substitution A G upstream_gene_variant LIRI-JP 1 93580102 93580102 single base substitution C T intron_variant LIRI-JP 1 93580102 93580102 single base substitution C T upstream_gene_variant LIRI-JP 1 93583806 93583806 single base substitution T C downstream_gene_variant LIRI-JP 1 93583806 93583806 single base substitution T C intron_variant LIRI-JP 1 93583806 93583806 single base substitution T C upstream_gene_variant LIRI-JP 1 93585222 93585222 single base substitution T C downstream_gene_variant LIRI-JP 1 93585222 93585222 single base substitution T C exon_variant LIRI-JP 1 93585222 93585222 single base substitution T C intron_variant LIRI-JP 1 93585222 93585222 single base substitution T C upstream_gene_variant LIRI-JP 1 93585279 93585279 single base substitution A G downstream_gene_variant LIRI-JP 1 93585279 93585279 single base substitution A G exon_variant LIRI-JP 1 93585279 93585279 single base substitution A G intron_variant LIRI-JP 1 93585279 93585279 single base substitution A G upstream_gene_variant LIRI-JP 1 93585805 93585805 single base substitution G A downstream_gene_variant LIRI-JP 1 93585805 93585805 single base substitution G A exon_variant LIRI-JP 1 93585805 93585805 single base substitution G A intron_variant LIRI-JP 1 93585805 93585805 single base substitution G A upstream_gene_variant LIRI-JP 1 93590033 93590033 single base substitution A G downstream_gene_variant LIRI-JP 1 93590033 93590033 single base substitution A G intron_variant LIRI-JP 1 93590033 93590033 single base substitution A G upstream_gene_variant LIRI-JP 1 93590077 93590077 single base substitution T A downstream_gene_variant LIRI-JP 1 93590077 93590077 single base substitution T A intron_variant LIRI-JP 1 93590077 93590077 single base substitution T A upstream_gene_variant LIRI-JP 1 93591332 93591332 single base substitution A G intron_variant LIRI-JP 1 93591332 93591332 single base substitution A G upstream_gene_variant LIRI-JP 1 93591623 93591623 single base substitution A G intron_variant LIRI-JP 1 93591623 93591623 single base substitution A G upstream_gene_variant LIRI-JP 1 93592010 93592010 single base substitution A G intron_variant LIRI-JP 1 93592010 93592010 single base substitution A G upstream_gene_variant LIRI-JP 1 93593699 93593699 single base substitution A G intron_variant LIRI-JP 1 93593699 93593699 single base substitution A G upstream_gene_variant LIRI-JP 1 93594566 93594566 single base substitution T C exon_variant LIRI-JP 1 93594566 93594566 single base substitution T C intron_variant LIRI-JP 1 93602252 93602252 single base substitution C T downstream_gene_variant LIRI-JP 1 93602252 93602252 single base substitution C T exon_variant LIRI-JP 1 93602252 93602252 single base substitution C T missense_variant R382C 1144C>T LIRI-JP 1 93602252 93602252 single base substitution C T missense_variant R427C 1279C>T LIRI-JP 1 93602252 93602252 single base substitution C T missense_variant R484C 1450C>T LIRI-JP 1 93602426 93602426 single base substitution G T downstream_gene_variant LIRI-JP 1 93602426 93602426 single base substitution G T exon_variant LIRI-JP 1 93602426 93602426 single base substitution G T stop_gained E440* 1318G>T LIRI-JP 1 93602426 93602426 single base substitution G T stop_gained E485* 1453G>T LIRI-JP 1 93602426 93602426 single base substitution G T stop_gained E542* 1624G>T LIRI-JP 1 93602553 93602553 single base substitution T C downstream_gene_variant LIRI-JP 1 93602553 93602553 single base substitution T C exon_variant LIRI-JP 1 93602553 93602553 single base substitution T C missense_variant L482P 1445T>C LIRI-JP 1 93602553 93602553 single base substitution T C missense_variant L527P 1580T>C LIRI-JP 1 93602553 93602553 single base substitution T C missense_variant L584P 1751T>C LIRI-JP 1 93603173 93603173 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 93603173 93603173 single base substitution T C downstream_gene_variant LIRI-JP 1 93603177 93603177 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 93603177 93603177 single base substitution T C downstream_gene_variant LIRI-JP 1 93604801 93604801 single base substitution A G downstream_gene_variant LIRI-JP 1 93604811 93604811 single base substitution A G downstream_gene_variant LIRI-JP 1 93605863 93605863 single base substitution G A downstream_gene_variant LIRI-JP 1 93605912 93605912 deletion of <=200bp G - downstream_gene_variant LIRI-JP 1 93606148 93606148 single base substitution A G downstream_gene_variant LIRI-JP 1 93606524 93606524 single base substitution T C downstream_gene_variant LIRI-JP 1 93607035 93607035 single base substitution G T downstream_gene_variant LIRI-JP 1 93607727 93607727 single base substitution A T downstream_gene_variant LIRI-JP 1 93608022 93608022 single base substitution A G downstream_gene_variant LUSC-KR 1 93540492 93540492 single base substitution G A upstream_gene_variant LUSC-KR 1 93542983 93542983 single base substitution G A upstream_gene_variant LUSC-KR 1 93549090 93549090 single base substitution G A intron_variant LUSC-KR 1 93555160 93555160 single base substitution C A intron_variant LUSC-KR 1 93561900 93561900 single base substitution A G intron_variant LUSC-KR 1 93574018 93574018 single base substitution A C intron_variant LUSC-KR 1 93574018 93574018 single base substitution A C upstream_gene_variant LUSC-KR 1 93577241 93577241 single base substitution A G intron_variant LUSC-KR 1 93583841 93583841 single base substitution G A downstream_gene_variant LUSC-KR 1 93583841 93583841 single base substitution G A intron_variant LUSC-KR 1 93583841 93583841 single base substitution G A upstream_gene_variant LUSC-KR 1 93587261 93587261 single base substitution G T downstream_gene_variant LUSC-KR 1 93587261 93587261 single base substitution G T intron_variant LUSC-KR 1 93592821 93592821 single base substitution G C exon_variant LUSC-KR 1 93592821 93592821 single base substitution G C intron_variant LUSC-KR 1 93592821 93592821 single base substitution G C missense_variant E216D 648G>C LUSC-KR 1 93592821 93592821 single base substitution G C missense_variant E318D 954G>C LUSC-KR 1 93592821 93592821 single base substitution G C upstream_gene_variant LUSC-KR 1 93601336 93601336 single base substitution C G downstream_gene_variant LUSC-KR 1 93601336 93601336 single base substitution C G intron_variant LUSC-KR 1 93602715 93602715 single base substitution G C 3_prime_UTR_variant LUSC-KR 1 93602715 93602715 single base substitution G C downstream_gene_variant LUSC-KR 1 93603927 93603927 single base substitution T A 3_prime_UTR_variant LUSC-KR 1 93603927 93603927 single base substitution T A downstream_gene_variant LUSC-US 1 93599277 93599277 single base substitution T C exon_variant LUSC-US 1 93599277 93599277 single base substitution T C missense_variant I291T 872T>C LUSC-US 1 93599277 93599277 single base substitution T C missense_variant I336T 1007T>C LUSC-US 1 93599277 93599277 single base substitution T C missense_variant I393T 1178T>C LUSC-US 1 93602335 93602335 single base substitution G T downstream_gene_variant LUSC-US 1 93602335 93602335 single base substitution G T exon_variant LUSC-US 1 93602335 93602335 single base substitution G T missense_variant Q409H 1227G>T LUSC-US 1 93602335 93602335 single base substitution G T missense_variant Q454H 1362G>T LUSC-US 1 93602335 93602335 single base substitution G T missense_variant Q511H 1533G>T MALY-DE 1 93543294 93543294 single base substitution T C upstream_gene_variant MALY-DE 1 93557547 93557547 single base substitution C T intron_variant MALY-DE 1 93559797 93559797 single base substitution T A intron_variant MALY-DE 1 93573826 93573827 deletion of <=200bp TG - intron_variant MALY-DE 1 93573826 93573827 deletion of <=200bp TG - upstream_gene_variant MALY-DE 1 93581209 93581209 single base substitution T G downstream_gene_variant MALY-DE 1 93581209 93581209 single base substitution T G intron_variant MALY-DE 1 93581209 93581209 single base substitution T G upstream_gene_variant MALY-DE 1 93596148 93596148 single base substitution T C intron_variant MALY-DE 1 93596504 93596505 deletion of <=200bp AC - intron_variant MALY-DE 1 93600455 93600455 single base substitution A T downstream_gene_variant MALY-DE 1 93600455 93600455 single base substitution A T intron_variant MALY-DE 1 93600555 93600555 single base substitution C T downstream_gene_variant MALY-DE 1 93600555 93600555 single base substitution C T intron_variant MALY-DE 1 93605405 93605405 single base substitution A G downstream_gene_variant MALY-DE 1 93608716 93608716 single base substitution A T downstream_gene_variant MELA-AU 1 93539944 93539944 single base substitution C T upstream_gene_variant MELA-AU 1 93539965 93539965 single base substitution C T upstream_gene_variant MELA-AU 1 93540040 93540040 single base substitution T G upstream_gene_variant MELA-AU 1 93540690 93540690 single base substitution G A upstream_gene_variant MELA-AU 1 93540800 93540800 single base substitution A T upstream_gene_variant MELA-AU 1 93541076 93541076 single base substitution G A upstream_gene_variant MELA-AU 1 93541680 93541680 single base substitution G A upstream_gene_variant MELA-AU 1 93542211 93542211 single base substitution C T upstream_gene_variant MELA-AU 1 93542228 93542228 single base substitution C T upstream_gene_variant MELA-AU 1 93542654 93542654 single base substitution T A upstream_gene_variant MELA-AU 1 93542730 93542730 single base substitution G A upstream_gene_variant MELA-AU 1 93542748 93542748 single base substitution C A upstream_gene_variant MELA-AU 1 93542757 93542757 single base substitution T A upstream_gene_variant MELA-AU 1 93542906 93542906 single base substitution C T upstream_gene_variant MELA-AU 1 93542992 93542992 single base substitution G A upstream_gene_variant MELA-AU 1 93543052 93543052 single base substitution G A upstream_gene_variant MELA-AU 1 93543419 93543419 single base substitution G A upstream_gene_variant MELA-AU 1 93544089 93544089 single base substitution A G upstream_gene_variant MELA-AU 1 93544265 93544265 single base substitution G A upstream_gene_variant MELA-AU 1 93544341 93544341 single base substitution A C upstream_gene_variant MELA-AU 1 93544535 93544536 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 93544746 93544746 single base substitution C T upstream_gene_variant MELA-AU 1 93544849 93544849 single base substitution G A 5_prime_UTR_variant MELA-AU 1 93544849 93544849 single base substitution G A exon_variant MELA-AU 1 93544849 93544849 single base substitution G A upstream_gene_variant MELA-AU 1 93547633 93547633 single base substitution G A intron_variant MELA-AU 1 93548105 93548105 single base substitution C A intron_variant MELA-AU 1 93549881 93549881 single base substitution C T intron_variant MELA-AU 1 93550314 93550314 single base substitution G T intron_variant MELA-AU 1 93550493 93550493 single base substitution C T intron_variant MELA-AU 1 93551084 93551084 single base substitution C T intron_variant MELA-AU 1 93552308 93552308 single base substitution C T intron_variant MELA-AU 1 93552425 93552425 single base substitution C T intron_variant MELA-AU 1 93552497 93552497 single base substitution C T intron_variant MELA-AU 1 93552585 93552585 single base substitution C T intron_variant MELA-AU 1 93553428 93553428 single base substitution C T intron_variant MELA-AU 1 93554191 93554191 single base substitution C T intron_variant MELA-AU 1 93554615 93554615 single base substitution T C intron_variant MELA-AU 1 93554684 93554684 single base substitution T A intron_variant MELA-AU 1 93556030 93556030 single base substitution C T intron_variant MELA-AU 1 93556054 93556054 single base substitution C A intron_variant MELA-AU 1 93556604 93556604 single base substitution T C intron_variant MELA-AU 1 93556612 93556612 single base substitution C T intron_variant MELA-AU 1 93560162 93560162 single base substitution C T intron_variant MELA-AU 1 93560282 93560282 single base substitution C T intron_variant MELA-AU 1 93560821 93560821 single base substitution C T intron_variant MELA-AU 1 93561243 93561243 single base substitution C T intron_variant MELA-AU 1 93561432 93561432 single base substitution C A intron_variant MELA-AU 1 93563041 93563041 single base substitution C T intron_variant MELA-AU 1 93563158 93563158 single base substitution C T intron_variant MELA-AU 1 93563246 93563246 single base substitution C T intron_variant MELA-AU 1 93563635 93563635 single base substitution T G intron_variant MELA-AU 1 93564013 93564013 single base substitution C T intron_variant MELA-AU 1 93564123 93564123 single base substitution A G intron_variant MELA-AU 1 93564674 93564675 deletion of <=200bp AG - intron_variant MELA-AU 1 93564701 93564701 single base substitution C T intron_variant MELA-AU 1 93564893 93564894 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 93564997 93564997 single base substitution G A intron_variant MELA-AU 1 93565193 93565193 single base substitution T C intron_variant MELA-AU 1 93565683 93565683 single base substitution G A intron_variant MELA-AU 1 93566458 93566458 single base substitution C T intron_variant MELA-AU 1 93566546 93566546 single base substitution C T intron_variant MELA-AU 1 93566609 93566609 single base substitution T G intron_variant MELA-AU 1 93566652 93566652 single base substitution G A intron_variant MELA-AU 1 93566774 93566774 single base substitution C T intron_variant MELA-AU 1 93566784 93566784 single base substitution A T intron_variant MELA-AU 1 93567907 93567907 single base substitution G C intron_variant MELA-AU 1 93569558 93569558 single base substitution A T intron_variant MELA-AU 1 93569809 93569809 single base substitution C T intron_variant MELA-AU 1 93569958 93569958 single base substitution C T intron_variant MELA-AU 1 93570176 93570176 single base substitution C T intron_variant MELA-AU 1 93570416 93570416 single base substitution A T intron_variant MELA-AU 1 93572167 93572167 single base substitution C T intron_variant MELA-AU 1 93572167 93572167 single base substitution C T upstream_gene_variant MELA-AU 1 93572447 93572447 single base substitution C T intron_variant MELA-AU 1 93572447 93572447 single base substitution C T upstream_gene_variant MELA-AU 1 93573205 93573205 single base substitution C T intron_variant MELA-AU 1 93573205 93573205 single base substitution C T upstream_gene_variant MELA-AU 1 93573539 93573539 single base substitution C T intron_variant MELA-AU 1 93573539 93573539 single base substitution C T upstream_gene_variant MELA-AU 1 93573869 93573869 single base substitution C T intron_variant MELA-AU 1 93573869 93573869 single base substitution C T upstream_gene_variant MELA-AU 1 93573937 93573937 single base substitution C T intron_variant MELA-AU 1 93573937 93573937 single base substitution C T upstream_gene_variant MELA-AU 1 93574123 93574123 single base substitution C T intron_variant MELA-AU 1 93574123 93574123 single base substitution C T upstream_gene_variant MELA-AU 1 93574856 93574856 single base substitution C T intron_variant MELA-AU 1 93574856 93574856 single base substitution C T upstream_gene_variant MELA-AU 1 93574884 93574884 single base substitution C T intron_variant MELA-AU 1 93574884 93574884 single base substitution C T upstream_gene_variant MELA-AU 1 93575360 93575360 single base substitution C T intron_variant MELA-AU 1 93575360 93575360 single base substitution C T upstream_gene_variant MELA-AU 1 93575584 93575584 single base substitution G A intron_variant MELA-AU 1 93575584 93575584 single base substitution G A upstream_gene_variant MELA-AU 1 93576964 93576964 single base substitution C T intron_variant MELA-AU 1 93578349 93578349 single base substitution T C intron_variant MELA-AU 1 93578384 93578384 single base substitution C T intron_variant MELA-AU 1 93578457 93578457 single base substitution C T intron_variant MELA-AU 1 93578529 93578529 single base substitution C T intron_variant MELA-AU 1 93580436 93580436 single base substitution C T intron_variant MELA-AU 1 93580436 93580436 single base substitution C T upstream_gene_variant MELA-AU 1 93580677 93580677 single base substitution G A intron_variant MELA-AU 1 93580677 93580677 single base substitution G A upstream_gene_variant MELA-AU 1 93580679 93580679 single base substitution T A intron_variant MELA-AU 1 93580679 93580679 single base substitution T A upstream_gene_variant MELA-AU 1 93581200 93581200 single base substitution C T downstream_gene_variant MELA-AU 1 93581200 93581200 single base substitution C T intron_variant MELA-AU 1 93581200 93581200 single base substitution C T upstream_gene_variant MELA-AU 1 93582244 93582244 single base substitution G A downstream_gene_variant MELA-AU 1 93582244 93582244 single base substitution G A intron_variant MELA-AU 1 93582244 93582244 single base substitution G A upstream_gene_variant MELA-AU 1 93582373 93582373 single base substitution T A downstream_gene_variant MELA-AU 1 93582373 93582373 single base substitution T A intron_variant MELA-AU 1 93582373 93582373 single base substitution T A upstream_gene_variant MELA-AU 1 93582496 93582496 single base substitution A G downstream_gene_variant MELA-AU 1 93582496 93582496 single base substitution A G intron_variant MELA-AU 1 93582496 93582496 single base substitution A G upstream_gene_variant MELA-AU 1 93582818 93582819 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 93582818 93582819 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 93582818 93582819 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 93582895 93582895 single base substitution C T downstream_gene_variant MELA-AU 1 93582895 93582895 single base substitution C T intron_variant MELA-AU 1 93582895 93582895 single base substitution C T upstream_gene_variant MELA-AU 1 93584658 93584658 single base substitution C T downstream_gene_variant MELA-AU 1 93584658 93584658 single base substitution C T intron_variant MELA-AU 1 93584658 93584658 single base substitution C T upstream_gene_variant MELA-AU 1 93585700 93585700 single base substitution T A downstream_gene_variant MELA-AU 1 93585700 93585700 single base substitution T A exon_variant MELA-AU 1 93585700 93585700 single base substitution T A intron_variant MELA-AU 1 93585700 93585700 single base substitution T A upstream_gene_variant MELA-AU 1 93585725 93585725 single base substitution C T downstream_gene_variant MELA-AU 1 93585725 93585725 single base substitution C T exon_variant MELA-AU 1 93585725 93585725 single base substitution C T intron_variant MELA-AU 1 93585725 93585725 single base substitution C T upstream_gene_variant MELA-AU 1 93585726 93585726 single base substitution C T downstream_gene_variant MELA-AU 1 93585726 93585726 single base substitution C T exon_variant MELA-AU 1 93585726 93585726 single base substitution C T intron_variant MELA-AU 1 93585726 93585726 single base substitution C T upstream_gene_variant MELA-AU 1 93586607 93586607 single base substitution C T downstream_gene_variant MELA-AU 1 93586607 93586607 single base substitution C T intron_variant MELA-AU 1 93586656 93586656 single base substitution G A downstream_gene_variant MELA-AU 1 93586656 93586656 single base substitution G A intron_variant MELA-AU 1 93587340 93587341 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 1 93587340 93587341 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 93588173 93588173 single base substitution G A downstream_gene_variant MELA-AU 1 93588173 93588173 single base substitution G A intron_variant MELA-AU 1 93589307 93589307 single base substitution C T downstream_gene_variant MELA-AU 1 93589307 93589307 single base substitution C T intron_variant MELA-AU 1 93589715 93589715 single base substitution C T downstream_gene_variant MELA-AU 1 93589715 93589715 single base substitution C T intron_variant MELA-AU 1 93589715 93589715 single base substitution C T upstream_gene_variant MELA-AU 1 93589851 93589851 single base substitution G A downstream_gene_variant MELA-AU 1 93589851 93589851 single base substitution G A intron_variant MELA-AU 1 93589851 93589851 single base substitution G A upstream_gene_variant MELA-AU 1 93590217 93590217 single base substitution C T downstream_gene_variant MELA-AU 1 93590217 93590217 single base substitution C T intron_variant MELA-AU 1 93590217 93590217 single base substitution C T upstream_gene_variant MELA-AU 1 93590688 93590688 single base substitution G A downstream_gene_variant MELA-AU 1 93590688 93590688 single base substitution G A intron_variant MELA-AU 1 93590688 93590688 single base substitution G A upstream_gene_variant MELA-AU 1 93590863 93590863 insertion of <=200bp - TG intron_variant MELA-AU 1 93590863 93590863 insertion of <=200bp - TG upstream_gene_variant MELA-AU 1 93590995 93590995 single base substitution G C intron_variant MELA-AU 1 93590995 93590995 single base substitution G C upstream_gene_variant MELA-AU 1 93591318 93591318 single base substitution C T intron_variant MELA-AU 1 93591318 93591318 single base substitution C T upstream_gene_variant MELA-AU 1 93591362 93591362 single base substitution G A intron_variant MELA-AU 1 93591362 93591362 single base substitution G A upstream_gene_variant MELA-AU 1 93591616 93591616 single base substitution C T intron_variant MELA-AU 1 93591616 93591616 single base substitution C T upstream_gene_variant MELA-AU 1 93591668 93591668 single base substitution T C intron_variant MELA-AU 1 93591668 93591668 single base substitution T C upstream_gene_variant MELA-AU 1 93591701 93591701 single base substitution C T intron_variant MELA-AU 1 93591701 93591701 single base substitution C T upstream_gene_variant MELA-AU 1 93592219 93592219 single base substitution G A intron_variant MELA-AU 1 93592219 93592219 single base substitution G A upstream_gene_variant MELA-AU 1 93592453 93592453 single base substitution G T intron_variant MELA-AU 1 93592453 93592453 single base substitution G T upstream_gene_variant MELA-AU 1 93592964 93592964 single base substitution C T intron_variant MELA-AU 1 93592964 93592964 single base substitution C T upstream_gene_variant MELA-AU 1 93593005 93593005 single base substitution T C intron_variant MELA-AU 1 93593005 93593005 single base substitution T C upstream_gene_variant MELA-AU 1 93594654 93594654 single base substitution A C exon_variant MELA-AU 1 93594654 93594654 single base substitution A C intron_variant MELA-AU 1 93594890 93594890 single base substitution C T exon_variant MELA-AU 1 93594890 93594890 single base substitution C T intron_variant MELA-AU 1 93594890 93594890 single base substitution C T missense_variant R247C 739C>T MELA-AU 1 93594890 93594890 single base substitution C T missense_variant R349C 1045C>T MELA-AU 1 93595205 93595205 single base substitution C T intron_variant MELA-AU 1 93595419 93595419 single base substitution G A intron_variant MELA-AU 1 93595485 93595485 single base substitution T A intron_variant MELA-AU 1 93596422 93596422 single base substitution C T intron_variant MELA-AU 1 93597647 93597647 single base substitution C T intron_variant MELA-AU 1 93597893 93597893 single base substitution C T intron_variant MELA-AU 1 93598368 93598368 single base substitution C T intron_variant MELA-AU 1 93598555 93598555 single base substitution C T intron_variant MELA-AU 1 93598851 93598851 single base substitution C T intron_variant MELA-AU 1 93599675 93599675 single base substitution C T downstream_gene_variant MELA-AU 1 93599675 93599675 single base substitution C T exon_variant MELA-AU 1 93599675 93599675 single base substitution C T synonymous_variant S347S 1041C>T MELA-AU 1 93599675 93599675 single base substitution C T synonymous_variant S392S 1176C>T MELA-AU 1 93599675 93599675 single base substitution C T synonymous_variant S449S 1347C>T MELA-AU 1 93600267 93600267 single base substitution G A downstream_gene_variant MELA-AU 1 93600267 93600267 single base substitution G A intron_variant MELA-AU 1 93600307 93600307 single base substitution C T downstream_gene_variant MELA-AU 1 93600307 93600307 single base substitution C T intron_variant MELA-AU 1 93600938 93600938 single base substitution C T downstream_gene_variant MELA-AU 1 93600938 93600938 single base substitution C T intron_variant MELA-AU 1 93601684 93601684 single base substitution C T downstream_gene_variant MELA-AU 1 93601684 93601684 single base substitution C T intron_variant MELA-AU 1 93602073 93602073 single base substitution C T downstream_gene_variant MELA-AU 1 93602073 93602073 single base substitution C T intron_variant MELA-AU 1 93602644 93602645 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 93602644 93602645 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 93602644 93602645 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 93602767 93602767 single base substitution G A 3_prime_UTR_variant MELA-AU 1 93602767 93602767 single base substitution G A downstream_gene_variant MELA-AU 1 93603177 93603177 single base substitution T C 3_prime_UTR_variant MELA-AU 1 93603177 93603177 single base substitution T C downstream_gene_variant MELA-AU 1 93603183 93603183 single base substitution C T 3_prime_UTR_variant MELA-AU 1 93603183 93603183 single base substitution C T downstream_gene_variant MELA-AU 1 93603184 93603184 single base substitution G A 3_prime_UTR_variant MELA-AU 1 93603184 93603184 single base substitution G A downstream_gene_variant MELA-AU 1 93603188 93603188 single base substitution A G 3_prime_UTR_variant MELA-AU 1 93603188 93603188 single base substitution A G downstream_gene_variant MELA-AU 1 93603956 93603956 single base substitution C T 3_prime_UTR_variant MELA-AU 1 93603956 93603956 single base substitution C T downstream_gene_variant MELA-AU 1 93604028 93604028 single base substitution T C 3_prime_UTR_variant MELA-AU 1 93604028 93604028 single base substitution T C downstream_gene_variant MELA-AU 1 93606550 93606550 single base substitution C T downstream_gene_variant MELA-AU 1 93609188 93609188 single base substitution C T downstream_gene_variant ORCA-IN 1 93566125 93566125 single base substitution A G intron_variant ORCA-IN 1 93583264 93583264 single base substitution C T downstream_gene_variant ORCA-IN 1 93583264 93583264 single base substitution C T intron_variant ORCA-IN 1 93583264 93583264 single base substitution C T upstream_gene_variant ORCA-IN 1 93601731 93601731 single base substitution T G downstream_gene_variant ORCA-IN 1 93601731 93601731 single base substitution T G intron_variant ORCA-IN 1 93607259 93607259 single base substitution G C downstream_gene_variant OV-AU 1 93541144 93541144 single base substitution C T upstream_gene_variant OV-AU 1 93544776 93544776 single base substitution C A upstream_gene_variant OV-AU 1 93545539 93545539 single base substitution A T intron_variant OV-AU 1 93553645 93553645 single base substitution G T intron_variant OV-AU 1 93554230 93554230 single base substitution C T intron_variant OV-AU 1 93555764 93555764 single base substitution A C intron_variant OV-AU 1 93564994 93564994 single base substitution G A intron_variant OV-AU 1 93573148 93573148 single base substitution G C intron_variant OV-AU 1 93573148 93573148 single base substitution G C upstream_gene_variant OV-AU 1 93578168 93578168 single base substitution T G intron_variant OV-AU 1 93579526 93579526 single base substitution G A intron_variant OV-AU 1 93579526 93579526 single base substitution G A upstream_gene_variant OV-AU 1 93579907 93579907 single base substitution C A intron_variant OV-AU 1 93579907 93579907 single base substitution C A upstream_gene_variant OV-AU 1 93587611 93587611 single base substitution G T downstream_gene_variant OV-AU 1 93587611 93587611 single base substitution G T intron_variant OV-AU 1 93589057 93589057 single base substitution C A downstream_gene_variant OV-AU 1 93589057 93589057 single base substitution C A intron_variant OV-AU 1 93593159 93593159 single base substitution G T intron_variant OV-AU 1 93593159 93593159 single base substitution G T upstream_gene_variant OV-AU 1 93593469 93593469 single base substitution A G intron_variant OV-AU 1 93593469 93593469 single base substitution A G upstream_gene_variant OV-AU 1 93594787 93594787 single base substitution A C exon_variant OV-AU 1 93594787 93594787 single base substitution A C intron_variant OV-AU 1 93603959 93603959 single base substitution A C 3_prime_UTR_variant OV-AU 1 93603959 93603959 single base substitution A C downstream_gene_variant OV-AU 1 93604218 93604218 single base substitution T C 3_prime_UTR_variant OV-AU 1 93604218 93604218 single base substitution T C downstream_gene_variant OV-AU 1 93605713 93605713 single base substitution T A downstream_gene_variant PACA-AU 1 93541806 93541828 deletion of <=200bp AAATATTCTGAGTGAAAGAACCC - upstream_gene_variant PACA-AU 1 93553230 93553230 single base substitution A C intron_variant PACA-AU 1 93554444 93554444 single base substitution A T intron_variant PACA-AU 1 93555626 93555626 single base substitution C T intron_variant PACA-AU 1 93561000 93561000 single base substitution C T intron_variant PACA-AU 1 93561492 93561492 single base substitution T A intron_variant PACA-AU 1 93566539 93566539 single base substitution T G intron_variant PACA-AU 1 93576769 93576769 single base substitution C T intron_variant PACA-AU 1 93578726 93578726 single base substitution C T intron_variant PACA-AU 1 93591738 93591738 single base substitution A G intron_variant PACA-AU 1 93591738 93591738 single base substitution A G upstream_gene_variant PACA-AU 1 93596647 93596647 single base substitution G A intron_variant PACA-AU 1 93597160 93597160 single base substitution C T intron_variant PACA-CA 1 93540035 93540035 single base substitution G T upstream_gene_variant PACA-CA 1 93551271 93551271 single base substitution C A intron_variant PACA-CA 1 93554443 93554443 single base substitution T A intron_variant PACA-CA 1 93557328 93557328 single base substitution C G intron_variant PACA-CA 1 93558426 93558426 single base substitution G T intron_variant PACA-CA 1 93558427 93558427 single base substitution A T intron_variant PACA-CA 1 93558479 93558479 single base substitution C T intron_variant PACA-CA 1 93565157 93565157 single base substitution A G intron_variant PACA-CA 1 93567891 93567891 single base substitution C A intron_variant PACA-CA 1 93569690 93569690 single base substitution T C intron_variant PACA-CA 1 93574525 93574525 single base substitution G A intron_variant PACA-CA 1 93574525 93574525 single base substitution G A upstream_gene_variant PACA-CA 1 93575805 93575805 single base substitution T G exon_variant PACA-CA 1 93575805 93575805 single base substitution T G intron_variant PACA-CA 1 93575805 93575805 single base substitution T G splice_donor_variant PACA-CA 1 93575805 93575805 single base substitution T G synonymous_variant G8G 24T>G PACA-CA 1 93575805 93575805 single base substitution T G upstream_gene_variant PACA-CA 1 93581761 93581761 single base substitution C T downstream_gene_variant PACA-CA 1 93581761 93581761 single base substitution C T intron_variant PACA-CA 1 93581761 93581761 single base substitution C T upstream_gene_variant PACA-CA 1 93583889 93583889 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 93583889 93583889 deletion of <=200bp T - intron_variant PACA-CA 1 93583889 93583889 deletion of <=200bp T - upstream_gene_variant PACA-CA 1 93586721 93586721 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 93586721 93586721 deletion of <=200bp T - intron_variant PACA-CA 1 93587944 93587944 single base substitution T C downstream_gene_variant PACA-CA 1 93587944 93587944 single base substitution T C intron_variant PACA-CA 1 93590264 93590264 single base substitution A T downstream_gene_variant PACA-CA 1 93590264 93590264 single base substitution A T intron_variant PACA-CA 1 93590264 93590264 single base substitution A T upstream_gene_variant PACA-CA 1 93591634 93591634 insertion of <=200bp - TA intron_variant PACA-CA 1 93591634 93591634 insertion of <=200bp - TA upstream_gene_variant PACA-CA 1 93595302 93595302 single base substitution G C intron_variant PACA-CA 1 93596857 93596857 single base substitution G C intron_variant PACA-CA 1 93597044 93597044 single base substitution C T intron_variant PACA-CA 1 93599636 93599636 single base substitution C A downstream_gene_variant PACA-CA 1 93599636 93599636 single base substitution C A intron_variant PACA-CA 1 93606464 93606464 single base substitution A G downstream_gene_variant PACA-CA 1 93608056 93608056 single base substitution G A downstream_gene_variant PACA-CA 1 93609536 93609536 single base substitution C T downstream_gene_variant PAEN-AU 1 93544918 93544918 single base substitution A C 5_prime_UTR_variant PAEN-AU 1 93544918 93544918 single base substitution A C exon_variant PAEN-IT 1 93564380 93564380 single base substitution G T intron_variant PAEN-IT 1 93601439 93601439 single base substitution G A downstream_gene_variant PAEN-IT 1 93601439 93601439 single base substitution G A intron_variant PAEN-IT 1 93603276 93603276 single base substitution G A 3_prime_UTR_variant PAEN-IT 1 93603276 93603276 single base substitution G A downstream_gene_variant PBCA-DE 1 93539856 93539856 deletion of <=200bp A - upstream_gene_variant PBCA-DE 1 93562080 93562080 insertion of <=200bp - T intron_variant PBCA-DE 1 93573168 93573169 deletion of <=200bp AT - intron_variant PBCA-DE 1 93573168 93573169 deletion of <=200bp AT - upstream_gene_variant PBCA-DE 1 93573172 93573174 deletion of <=200bp AAC - intron_variant PBCA-DE 1 93573172 93573174 deletion of <=200bp AAC - upstream_gene_variant PBCA-DE 1 93575242 93575242 insertion of <=200bp - T intron_variant PBCA-DE 1 93575242 93575242 insertion of <=200bp - T upstream_gene_variant PBCA-DE 1 93578746 93578746 single base substitution G A intron_variant PBCA-DE 1 93596134 93596134 deletion of <=200bp A - intron_variant PBCA-DE 1 93596504 93596505 deletion of <=200bp AC - intron_variant PRAD-CA 1 93544581 93544581 single base substitution G A upstream_gene_variant PRAD-CA 1 93568081 93568081 single base substitution T G intron_variant PRAD-CA 1 93572931 93572931 single base substitution G A intron_variant PRAD-CA 1 93572931 93572931 single base substitution G A upstream_gene_variant PRAD-CA 1 93582682 93582682 single base substitution T G downstream_gene_variant PRAD-CA 1 93582682 93582682 single base substitution T G intron_variant PRAD-CA 1 93582682 93582682 single base substitution T G upstream_gene_variant PRAD-CA 1 93587115 93587115 single base substitution A T downstream_gene_variant PRAD-CA 1 93587115 93587115 single base substitution A T intron_variant PRAD-UK 1 93556672 93556672 single base substitution A G intron_variant PRAD-UK 1 93559930 93559930 single base substitution A G intron_variant PRAD-UK 1 93570888 93570888 single base substitution A T intron_variant PRAD-UK 1 93570888 93570888 single base substitution A T upstream_gene_variant PRAD-UK 1 93575502 93575502 single base substitution C T intron_variant PRAD-UK 1 93575502 93575502 single base substitution C T upstream_gene_variant PRAD-UK 1 93582461 93582461 single base substitution C T downstream_gene_variant PRAD-UK 1 93582461 93582461 single base substitution C T intron_variant PRAD-UK 1 93582461 93582461 single base substitution C T upstream_gene_variant PRAD-UK 1 93598183 93598183 single base substitution G T intron_variant READ-US 1 93575840 93575840 single base substitution G A exon_variant READ-US 1 93575840 93575840 single base substitution G A intron_variant READ-US 1 93575840 93575840 single base substitution G A missense_variant R20Q 59G>A READ-US 1 93575840 93575840 single base substitution G A upstream_gene_variant READ-US 1 93575914 93575914 single base substitution A C 5_prime_UTR_variant READ-US 1 93575914 93575914 single base substitution A C exon_variant READ-US 1 93575914 93575914 single base substitution A C intron_variant READ-US 1 93575914 93575914 single base substitution A C missense_variant K45Q 133A>C READ-US 1 93575914 93575914 single base substitution A C upstream_gene_variant READ-US 1 93599309 93599309 single base substitution C T downstream_gene_variant READ-US 1 93599309 93599309 single base substitution C T exon_variant READ-US 1 93599309 93599309 single base substitution C T missense_variant R302C 904C>T READ-US 1 93599309 93599309 single base substitution C T missense_variant R347C 1039C>T READ-US 1 93599309 93599309 single base substitution C T missense_variant R404C 1210C>T RECA-EU 1 93541702 93541702 single base substitution A C upstream_gene_variant RECA-EU 1 93555163 93555163 single base substitution C G intron_variant RECA-EU 1 93571763 93571763 single base substitution A C intron_variant RECA-EU 1 93571763 93571763 single base substitution A C upstream_gene_variant RECA-EU 1 93572654 93572654 single base substitution T A intron_variant RECA-EU 1 93572654 93572654 single base substitution T A upstream_gene_variant RECA-EU 1 93573892 93573892 single base substitution A G intron_variant RECA-EU 1 93573892 93573892 single base substitution A G upstream_gene_variant RECA-EU 1 93574077 93574077 single base substitution T A intron_variant RECA-EU 1 93574077 93574077 single base substitution T A upstream_gene_variant RECA-EU 1 93574469 93574469 single base substitution A T intron_variant RECA-EU 1 93574469 93574469 single base substitution A T upstream_gene_variant RECA-EU 1 93587289 93587289 single base substitution T G downstream_gene_variant RECA-EU 1 93587289 93587289 single base substitution T G intron_variant RECA-EU 1 93592144 93592144 single base substitution G C intron_variant RECA-EU 1 93592144 93592144 single base substitution G C upstream_gene_variant SKCA-BR 1 93542647 93542648 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 1 93542647 93542649 deletion of <=200bp GTT - upstream_gene_variant SKCA-BR 1 93548871 93548871 single base substitution G A intron_variant SKCA-BR 1 93551872 93551872 single base substitution C G intron_variant SKCA-BR 1 93555406 93555406 insertion of <=200bp - CT intron_variant SKCA-BR 1 93562370 93562370 insertion of <=200bp - TC intron_variant SKCA-BR 1 93562371 93562371 single base substitution T C intron_variant SKCA-BR 1 93563354 93563354 single base substitution C T intron_variant SKCA-BR 1 93566900 93566900 single base substitution G T intron_variant SKCA-BR 1 93572072 93572072 single base substitution A G intron_variant SKCA-BR 1 93572072 93572072 single base substitution A G upstream_gene_variant SKCA-BR 1 93573025 93573025 single base substitution C T intron_variant SKCA-BR 1 93573025 93573025 single base substitution C T upstream_gene_variant SKCA-BR 1 93574163 93574163 insertion of <=200bp - AT intron_variant SKCA-BR 1 93574163 93574163 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 1 93576566 93576566 single base substitution C T intron_variant SKCA-BR 1 93579312 93579312 single base substitution G A intron_variant SKCA-BR 1 93579312 93579312 single base substitution G A upstream_gene_variant SKCA-BR 1 93581793 93581794 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 1 93581793 93581794 deletion of <=200bp AT - intron_variant SKCA-BR 1 93581793 93581794 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 1 93583856 93583856 single base substitution C T downstream_gene_variant SKCA-BR 1 93583856 93583856 single base substitution C T intron_variant SKCA-BR 1 93583856 93583856 single base substitution C T upstream_gene_variant SKCA-BR 1 93588767 93588768 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 1 93588767 93588768 deletion of <=200bp CT - intron_variant SKCA-BR 1 93590248 93590248 single base substitution A G downstream_gene_variant SKCA-BR 1 93590248 93590248 single base substitution A G intron_variant SKCA-BR 1 93590248 93590248 single base substitution A G upstream_gene_variant SKCA-BR 1 93590864 93590864 single base substitution T G intron_variant SKCA-BR 1 93590864 93590864 single base substitution T G upstream_gene_variant SKCA-BR 1 93592959 93592959 single base substitution C G intron_variant SKCA-BR 1 93592959 93592959 single base substitution C G upstream_gene_variant SKCA-BR 1 93594112 93594114 deletion of <=200bp CAA - intron_variant SKCA-BR 1 93594112 93594114 deletion of <=200bp CAA - upstream_gene_variant SKCA-BR 1 93595115 93595116 deletion of <=200bp AT - intron_variant SKCA-BR 1 93596131 93596131 single base substitution C T intron_variant SKCA-BR 1 93596133 93596133 insertion of <=200bp - CA intron_variant SKCA-BR 1 93596574 93596574 single base substitution A G intron_variant SKCA-BR 1 93598304 93598304 single base substitution C T intron_variant SKCA-BR 1 93604057 93604057 single base substitution A G 3_prime_UTR_variant SKCA-BR 1 93604057 93604057 single base substitution A G downstream_gene_variant SKCA-BR 1 93609490 93609490 insertion of <=200bp - CTTAT downstream_gene_variant STAD-US 1 93580632 93580632 insertion of <=200bp - CAA exon_variant STAD-US 1 93580632 93580632 insertion of <=200bp - CAA inframe_insertion A157AT STAD-US 1 93580632 93580632 insertion of <=200bp - CAA inframe_insertion A55AT STAD-US 1 93580632 93580632 insertion of <=200bp - CAA upstream_gene_variant STAD-US 1 93583921 93583921 single base substitution C T downstream_gene_variant STAD-US 1 93583921 93583921 single base substitution C T exon_variant STAD-US 1 93583921 93583921 single base substitution C T stop_gained Q116* 346C>T STAD-US 1 93583921 93583921 single base substitution C T stop_gained Q218* 652C>T STAD-US 1 93583921 93583921 single base substitution C T upstream_gene_variant STAD-US 1 93584943 93584943 single base substitution G A downstream_gene_variant STAD-US 1 93584943 93584943 single base substitution G A exon_variant STAD-US 1 93584943 93584943 single base substitution G A missense_variant R159H 476G>A STAD-US 1 93584943 93584943 single base substitution G A missense_variant R261H 782G>A STAD-US 1 93584943 93584943 single base substitution G A upstream_gene_variant STAD-US 1 93594899 93594899 single base substitution C T exon_variant STAD-US 1 93594899 93594899 single base substitution C T intron_variant STAD-US 1 93594899 93594899 single base substitution C T missense_variant P250S 748C>T STAD-US 1 93594899 93594899 single base substitution C T missense_variant P352S 1054C>T STAD-US 1 93599280 93599280 insertion of <=200bp - A exon_variant STAD-US 1 93599280 93599280 insertion of <=200bp - A frameshift_variant E292E? STAD-US 1 93599280 93599280 insertion of <=200bp - A frameshift_variant E337E? STAD-US 1 93599280 93599280 insertion of <=200bp - A frameshift_variant E394E? STAD-US 1 93599728 93599728 single base substitution C A downstream_gene_variant STAD-US 1 93599728 93599728 single base substitution C A exon_variant STAD-US 1 93599728 93599728 single base substitution C A stop_gained S365* 1094C>A STAD-US 1 93599728 93599728 single base substitution C A stop_gained S410* 1229C>A STAD-US 1 93599728 93599728 single base substitution C A stop_gained S467* 1400C>A STAD-US 1 93602291 93602291 single base substitution C T downstream_gene_variant STAD-US 1 93602291 93602291 single base substitution C T exon_variant STAD-US 1 93602291 93602291 single base substitution C T missense_variant R395W 1183C>T STAD-US 1 93602291 93602291 single base substitution C T missense_variant R440W 1318C>T STAD-US 1 93602291 93602291 single base substitution C T missense_variant R497W 1489C>T STAD-US 1 93602324 93602324 single base substitution C T downstream_gene_variant STAD-US 1 93602324 93602324 single base substitution C T exon_variant STAD-US 1 93602324 93602324 single base substitution C T missense_variant L406F 1216C>T STAD-US 1 93602324 93602324 single base substitution C T missense_variant L451F 1351C>T STAD-US 1 93602324 93602324 single base substitution C T missense_variant L508F 1522C>T STAD-US 1 93602519 93602519 single base substitution C T downstream_gene_variant STAD-US 1 93602519 93602519 single base substitution C T exon_variant STAD-US 1 93602519 93602519 single base substitution C T missense_variant R471C 1411C>T STAD-US 1 93602519 93602519 single base substitution C T missense_variant R516C 1546C>T STAD-US 1 93602519 93602519 single base substitution C T missense_variant R573C 1717C>T THCA-SA 1 93544870 93544870 single base substitution T C 5_prime_UTR_variant THCA-SA 1 93544870 93544870 single base substitution T C exon_variant THCA-SA 1 93604136 93604136 single base substitution T C 3_prime_UTR_variant THCA-SA 1 93604136 93604136 single base substitution T C downstream_gene_variant UCEC-US 1 93575797 93575797 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 93575797 93575797 single base substitution G T exon_variant UCEC-US 1 93575797 93575797 single base substitution G T intron_variant UCEC-US 1 93575797 93575797 single base substitution G T missense_variant G6W 16G>T UCEC-US 1 93575797 93575797 single base substitution G T upstream_gene_variant UCEC-US 1 93575839 93575839 single base substitution C T exon_variant UCEC-US 1 93575839 93575839 single base substitution C T intron_variant UCEC-US 1 93575839 93575839 single base substitution C T stop_gained R20* 58C>T UCEC-US 1 93575839 93575839 single base substitution C T upstream_gene_variant UCEC-US 1 93583972 93583972 single base substitution C A downstream_gene_variant UCEC-US 1 93583972 93583972 single base substitution C A exon_variant UCEC-US 1 93583972 93583972 single base substitution C A missense_variant Q133K 397C>A UCEC-US 1 93583972 93583972 single base substitution C A missense_variant Q235K 703C>A UCEC-US 1 93583972 93583972 single base substitution C A upstream_gene_variant UCEC-US 1 93584893 93584893 single base substitution T G downstream_gene_variant UCEC-US 1 93584893 93584893 single base substitution T G exon_variant UCEC-US 1 93584893 93584893 single base substitution T G missense_variant F142L 426T>G UCEC-US 1 93584893 93584893 single base substitution T G missense_variant F244L 732T>G UCEC-US 1 93584893 93584893 single base substitution T G upstream_gene_variant UCEC-US 1 93592843 93592843 single base substitution G T exon_variant UCEC-US 1 93592843 93592843 single base substitution G T intron_variant UCEC-US 1 93592843 93592843 single base substitution G T missense_variant D224Y 670G>T UCEC-US 1 93592843 93592843 single base substitution G T missense_variant D326Y 976G>T UCEC-US 1 93592843 93592843 single base substitution G T upstream_gene_variant UCEC-US 1 93594884 93594884 single base substitution C T exon_variant UCEC-US 1 93594884 93594884 single base substitution C T intron_variant UCEC-US 1 93594884 93594884 single base substitution C T stop_gained R245* 733C>T UCEC-US 1 93594884 93594884 single base substitution C T stop_gained R347* 1039C>T UCEC-US 1 93594890 93594890 single base substitution C T exon_variant UCEC-US 1 93594890 93594890 single base substitution C T intron_variant UCEC-US 1 93594890 93594890 single base substitution C T missense_variant R247C 739C>T UCEC-US 1 93594890 93594890 single base substitution C T missense_variant R349C 1045C>T UCEC-US 1 93595007 93595007 single base substitution T C intron_variant UCEC-US 1 93595007 93595007 single base substitution T C splice_donor_variant UCEC-US 1 93602354 93602354 single base substitution G T downstream_gene_variant UCEC-US 1 93602354 93602354 single base substitution G T exon_variant UCEC-US 1 93602354 93602354 single base substitution G T missense_variant D416Y 1246G>T UCEC-US 1 93602354 93602354 single base substitution G T missense_variant D461Y 1381G>T UCEC-US 1 93602354 93602354 single base substitution G T missense_variant D518Y 1552G>T UCEC-US 1 93602458 93602458 single base substitution T C downstream_gene_variant UCEC-US 1 93602458 93602458 single base substitution T C exon_variant UCEC-US 1 93602458 93602458 single base substitution T C synonymous_variant I450I 1350T>C UCEC-US 1 93602458 93602458 single base substitution T C synonymous_variant I495I 1485T>C UCEC-US 1 93602458 93602458 single base substitution T C synonymous_variant I552I 1656T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCT-15 COSM1667712 c.1721G>A p.R574Q Substitution - Missense 1:93136966-93136966 + TCGA-CG-4465-01 COSM4010650 c.1489C>T p.R497W Substitution - Missense 1:93136734-93136734 + TCGA-FU-A3HZ-01 COSM4838821 c.696A>G p.Q232Q Substitution - coding silent 1:93118408-93118408 + T3058 COSM4703531 c.231C>G p.F77L Substitution - Missense 1:93110571-93110571 + TCGA-DM-A28G-01 COSM1344941 c.798-1G>A p.? Unknown 1:93120548-93120548 + TCGA-CA-6718-01 COSM1344942 c.805A>C p.I269L Substitution - Missense 1:93120556-93120556 + TCGA-B5-A11E-01 COSM913368 c.1045C>T p.R349C Substitution - Missense 1:93129333-93129333 + TCGA-D1-A103-01 COSM913364 c.703C>A p.Q235K Substitution - Missense 1:93118415-93118415 + B105-0 COSM1748667 c.809C>T p.A270V Substitution - Missense 1:93120560-93120560 + TCGA-GD-A3OP-01 COSM1296802 c.1698A>G p.E566E Substitution - coding silent 1:93136943-93136943 + S0091 COSM5881812 c.499A>G p.K167E Substitution - Missense 1:93115485-93115485 + SNUH_G16_S1 COSM3677762 c.1580T>C p.F527S Substitution - Missense 1:93136825-93136825 + 35M COSM5581703 c.1243C>A p.Q415K Substitution - Missense 1:93133785-93133785 + TCGA-CW-5585-01 COSM465101 c.182T>C p.F61S Substitution - Missense 1:93110406-93110406 + sysucc-311T COSM5464489 c.1233A>G p.R411R Substitution - coding silent 1:93133775-93133775 + TCGA-D8-A1Y0-01 COSM1474263 c.1635C>G p.L545L Substitution - coding silent 1:93136880-93136880 + TCGA-AP-A0LM-01 COSM913363 c.58C>T p.R20* Substitution - Nonsense 1:93110282-93110282 + Pat_41_B COSM5847494 c.1100G>A p.G367E Substitution - Missense 1:93129388-93129388 + 585208 COSM325862 c.572G>T p.W191L Substitution - Missense 1:93115558-93115558 + TCGA-BR-A4QL-01 COSM4010649 c.1400C>A p.S467* Substitution - Nonsense 1:93134171-93134171 + S02120 COSM5673424 c.1501G>T p.G501C Substitution - Missense 1:93136746-93136746 + TCGA-AR-A0U2-01 COSM2260280 c.1180_1181insA p.G397fs*23 Insertion - Frameshift 1:93133722-93133723 + 587342 COSM1215650 c.1575T>A p.Y525* Substitution - Nonsense 1:93136820-93136820 + TCGA-24-2293-01 COSM71703 c.481A>C p.K161Q Substitution - Missense 1:93115086-93115086 + NB1812 COSM5703161 c.862T>C p.S288P Substitution - Missense 1:93120613-93120613 + Au4 COSM913368 c.1045C>T p.R349C Substitution - Missense 1:93129333-93129333 + B105-0-Tumor COSM1748667 c.809C>T p.A270V Substitution - Missense 1:93120560-93120560 + TCGA-AO-A0JM-01 COSM426845 c.1020G>C p.K340N Substitution - Missense 1:93129308-93129308 + T3503 COSM4703528 c.15_16insG p.A7fs*3 Insertion - Frameshift 1:93110239-93110240 + TCGA-AA-A00N-01 COSM276134 c.1040G>A p.R347Q Substitution - Missense 1:93129328-93129328 + TCGA-CK-5913-01 COSM1344943 c.1181delA p.G397fs*6 Deletion - Frameshift 1:93133723-93133723 + TCGA-G5-6572-01 COSM3419585 c.1210C>T p.R404C Substitution - Missense 1:93133752-93133752 + T578 COSM4703529 c.76A>C p.T26P Substitution - Missense 1:93110300-93110300 + TCGA-D5-6929-01 COSM5165982 c.1103C>G p.T368R Substitution - Missense 1:93129391-93129391 + TCGA-AP-A0LM-01 COSM913369 c.1160+2T>C p.? Unknown 1:93129450-93129450 + LP6005500-DNA_B01 COSM4410138 c.239T>G p.F80C Substitution - Missense 1:93110579-93110579 + TCGA-AA-A010-01 COSM282909 c.69G>T p.K23N Substitution - Missense 1:93110293-93110293 + SNU-175 COSM2260247 c.55C>T p.R19C Substitution - Missense 1:93110279-93110279 + TCGA-FD-A3SR-01 COSM3790347 c.493G>A p.A165T Substitution - Missense 1:93115479-93115479 + BD72T COSM4431838 c.1195delA p.K400fs*3 Deletion - Frameshift 1:93133737-93133737 + Pat_41_B COSM5847495 c.1127G>A p.G376D Substitution - Missense 1:93129415-93129415 + T578 COSM4703530 c.216G>T p.L72F Substitution - Missense 1:93110556-93110556 + TCGA-CM-5861-01 COSM1344944 c.1620T>C p.D540D Substitution - coding silent 1:93136865-93136865 + TCGA-F5-6814-01 COSM3419584 c.133A>C p.K45Q Substitution - Missense 1:93110357-93110357 + TCGA-AX-A0J0-01 COSM913370 c.1552G>T p.D518Y Substitution - Missense 1:93136797-93136797 + TCGA-D1-A17Q-01 COSM913367 c.1039C>T p.R347* Substitution - Nonsense 1:93129327-93129327 + ESCC-015T COSM3934858 c.943G>A p.E315K Substitution - Missense 1:93127253-93127253 + UM-SCC-47 COSM4599905 c.193_196delACTA p.T65fs*4 Deletion - Frameshift 1:93110417-93110420 + 13280 COSM5614076 c.1487T>C p.L496S Substitution - Missense 1:93136732-93136732 + TCGA-AP-A056-01 COSM913365 c.732T>G p.F244L Substitution - Missense 1:93119336-93119336 + ZZUFHECRKL-G071T COSM5438947 c.729-5C>T p.? Unknown 1:93119328-93119328 + BN26 COSM1602805 c.68A>T p.K23M Substitution - Missense 1:93110292-93110292 + SNUH_G16_S1 COSM3997706 c.1580T>A p.F527Y Substitution - Missense 1:93136825-93136825 + TCGA-BR-4184-01 COSM4010647 c.782G>A p.R261H Substitution - Missense 1:93119386-93119386 + HCC4T COSM1602806 c.728G>A p.R243K Substitution - Missense 1:93118440-93118440 + TCGA-BC-A3KG-01 COSM4942551 c.5+1G>T p.? Unknown 1:93079532-93079532 + HCT15 COSM1667712 c.1721G>A p.R574Q Substitution - Missense 1:93136966-93136966 + TCGA-BR-8078-01 COSM4010651 c.1522C>T p.L508F Substitution - Missense 1:93136767-93136767 + BN26T COSM1602805 c.68A>T p.K23M Substitution - Missense 1:93110292-93110292 + TCGA-AX-A0J0-01 COSM913366 c.976G>T p.D326Y Substitution - Missense 1:93127286-93127286 + CSCC-49-T COSM4466465 c.1436C>T p.S479F Substitution - Missense 1:93136681-93136681 + PT46 COSM5928110 c.919G>A p.E307K Substitution - Missense 1:93120670-93120670 + TCGA-A8-A0A7-01 COSM426844 c.1017G>A p.K339K Substitution - coding silent 1:93129305-93129305 + LPJ119 COSM1316630 c.1089A>C p.K363N Substitution - Missense 1:93129377-93129377 + PD9752a COSM5786048 c.116C>T p.A39V Substitution - Missense 1:93110340-93110340 + RK312_C01 COSM3700817 c.1624G>T p.E542* Substitution - Nonsense 1:93136869-93136869 + BD242T COSM5495753 c.1507C>G p.L503V Substitution - Missense 1:93136752-93136752 + RK052_C01 COSM1627257 c.1751T>C p.L584P Substitution - Missense 1:93136996-93136996 + pfg008T COSM1344943 c.1181delA p.G397fs*6 Deletion - Frameshift 1:93133723-93133723 + TCGA-D1-A174-01 COSM913367 c.1039C>T p.R347* Substitution - Nonsense 1:93129327-93129327 + LS411 COSM2260308 c.1779C>A p.S593S Substitution - coding silent 1:93137024-93137024 + TCGA-G4-6304-01 COSM1344943 c.1181delA p.G397fs*6 Deletion - Frameshift 1:93133723-93133723 + TCGA-AA-3672-01 COSM1344943 c.1181delA p.G397fs*6 Deletion - Frameshift 1:93133723-93133723 + TCGA-BS-A0UF-01 COSM913366 c.976G>T p.D326Y Substitution - Missense 1:93127286-93127286 + PCSI_0022_Pa_C COSM3786291 c.24T>G p.G8G Substitution - coding silent 1:93110248-93110248 + KM12 COSM913363 c.58C>T p.R20* Substitution - Nonsense 1:93110282-93110282 + TCGA-BR-4255-01 COSM4010648 c.1054C>T p.P352S Substitution - Missense 1:93129342-93129342 + TCGA-NH-A5IV-01 COSM1344943 c.1181delA p.G397fs*6 Deletion - Frameshift 1:93133723-93133723 + TCGA-EI-6917-01 COSM176178 c.59G>A p.R20Q Substitution - Missense 1:93110283-93110283 + CADO-ES1 COSM2260274 c.926C>G p.A309G Substitution - Missense 1:93127236-93127236 + SNUH_G10_S1 COSM3997705 c.484-3T>C p.? Unknown 1:93115467-93115467 + TCGA-23-1026-01 COSM78112 c.1546G>T p.V516L Substitution - Missense 1:93136791-93136791 + TCGA-AA-3510-01 COSM176178 c.59G>A p.R20Q Substitution - Missense 1:93110283-93110283 + TCGA-A5-A0GP-01 COSM913368 c.1045C>T p.R349C Substitution - Missense 1:93129333-93129333 + TCGA-BS-A0UF-01 COSM913371 c.1656T>C p.I552I Substitution - coding silent 1:93136901-93136901 + TCGA-A6-5665-01 COSM1344943 c.1181delA p.G397fs*6 Deletion - Frameshift 1:93133723-93133723 + TCGA-AD-6889-01 COSM1344940 c.788C>A p.P263Q Substitution - Missense 1:93119392-93119392 + Gp2D COSM1344943 c.1181delA p.G397fs*6 Deletion - Frameshift 1:93133723-93133723 + CSCC-46-T COSM4526087 c.1371G>T p.T457T Substitution - coding silent 1:93134142-93134142 + HCT116 COSM4632206 c.334T>C p.Y112H Substitution - Missense 1:93114735-93114735 + HCC4 COSM1602806 c.728G>A p.R243K Substitution - Missense 1:93118440-93118440 + sysucc-692T COSM5763777 c.1696G>A p.E566K Substitution - Missense 1:93136941-93136941 + C008 COSM2260276 c.1077C>T p.F359F Substitution - coding silent 1:93129365-93129365 + HCC016T COSM5811689 c.88A>G p.K30E Substitution - Missense 1:93110312-93110312 + KM12 COSM913363 c.58C>T p.R20* Substitution - Nonsense 1:93110282-93110282 + RK308_C01 COSM3741433 c.1450C>T p.R484C Substitution - Missense 1:93136695-93136695 + BD72T COSM5511530 c.1012_1014delAAG p.K341delK Deletion - In frame 1:93129300-93129302 + TCGA-A8-A094-01 COSM426846 c.1412C>G p.S471C Substitution - Missense 1:93134183-93134183 + HN_62686 COSM124516 c.180G>T p.L60F Substitution - Missense 1:93110404-93110404 + 587376 COSM276134 c.1040G>A p.R347Q Substitution - Missense 1:93129328-93129328 + 418 COSM4431838 c.1195delA p.K400fs*3 Deletion - Frameshift 1:93133737-93133737 + LUAD-S01331 COSM396496 c.515C>G p.A172G Substitution - Missense 1:93115501-93115501 + HCT15 COSM2260263 c.577G>A p.A193T Substitution - Missense 1:93115563-93115563 + TCGA-24-1849-01 COSM1320836 c.818G>C p.C273S Substitution - Missense 1:93120569-93120569 + TCGA-18-3416-01 COSM682684 c.1533G>T p.Q511H Substitution - Missense 1:93136778-93136778 + TCGA-DK-A1A3-01 COSM414733 c.331G>C p.E111Q Substitution - Missense 1:93114732-93114732 + TCGA-BS-A0UA-01 COSM913367 c.1039C>T p.R347* Substitution - Nonsense 1:93129327-93129327 + TCGA-39-5027-01 COSM682685 c.1178T>C p.I393T Substitution - Missense 1:93133720-93133720 + TCGA-CG-4442-01 COSM4010652 c.1717C>T p.R573C Substitution - Missense 1:93136962-93136962 + TCGA-B5-A11E-01 COSM913362 c.16G>T p.G6W Substitution - Missense 1:93110240-93110240 + DLD1 COSM2260263 c.577G>A p.A193T Substitution - Missense 1:93115563-93115563 + TCGA-A6-2686-01 COSM5083879 c.1215A>G p.P405P Substitution - coding silent 1:93133757-93133757 + TCGA-CD-A4MI-01 COSM4010646 c.652C>T p.Q218* Substitution - Nonsense 1:93118364-93118364 + TCGA-FD-A3B5-01 COSM1296801 c.1517G>C p.R506T Substitution - Missense 1:93136762-93136762 + HCC2998 COSM2260283 c.1194G>T p.K398N Substitution - Missense 1:93133736-93133736 + 3N24-VS-3T24 COSM4979657 c.1355C>G p.S452* Substitution - Nonsense 1:93134126-93134126 + 98 COSM2260247 c.55C>T p.R19C Substitution - Missense 1:93110279-93110279 + TCGA-B0-5707-01 COSM465102 c.683A>G p.E228G Substitution - Missense 1:93118395-93118395 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.712730;Hs.712738;Hs.712739;Hs.712740;Hs.712743;Hs.712746;Hs.712747;Hs.712748;Hs.712749;Hs.712750;Hs.712751;Hs.712754;Hs.712755;Hs.712759;Hs.712762;Hs.712763;Hs.712766;Hs.712767 1p22.1 609882

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - 3-UTRDeletion . c.1779+108delA 1 93602676 STAD - ACCC IntronicInsertion . c.1160+1508_1160+1509insCCAC 1 93596511 CLL A C Missense p.K161Q c.481A>C 1 93580643 OV AGAGCACTCC - Frameshift p.A507Lfs*7 c.1519_1528delGCACTCCAGA 1 93602318 LUAD A G Synonymous p.E566E c.1698A>G 1 93602500 BLCA C A Missense p.P504Q c.1511C>A 1 93602313 HNSC C G Missense p.S471C c.1412C>G 1 93599740 BRCA C G Synonymous p.L545L c.1635C>G 1 93602437 BRCA C T Missense p.P352S c.1054C>T 1 93594899 STAD C T Missense p.R349C c.1045C>T 1 93594890 UCEC C T Missense p.R497W c.1489C>T 1 93602291 STAD C T Nonsense p.R347* c.1039C>T 1 93594884 UCEC G A Synonymous p.K339K c.1017G>A 1 93594862 BRCA G C Missense p.E111Q c.331G>C 1 93580289 BLCA G C Missense p.E586Q c.1756G>C 1 93602558 HNSC G C Missense p.K340N c.1020G>C 1 93594865 BRCA G C Missense p.R506T c.1517G>C 1 93602319 BLCA G T Missense p.L60F c.180G>T 1 93575961 HNSC G T Missense p.Q511H c.1533G>T 1 93602335 LUSC G T Missense p.V516L c.1546G>T 1 93602348 OV G T Missense p.W191L c.572G>T 1 93581115 SCLC T A IntronicSNV . c.990-11T>A 1 93594824 STAD T C IntronicSNV . c.990-269T>C 1 93594566 HC T C Missense p.I393T c.1178T>C 1 93599277 LUSC T C Missense p.L496S c.1487T>C 1 93602289 NSCLC T - IntronicDeletion . c.1424+28delT 1 93599773 STAD