Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 152980445 152980445 + Missense_Mutation SNP T T C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr2:152980445T>C c.1184A>G c.(1183-1185)tAt>tGt p.Y395C BLCA 2 153000393 153000393 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr2:153000393C>G c.652G>C c.(652-654)Gac>Cac p.D218H BLCA 2 153001419 153001419 + Missense_Mutation SNP T T A TCGA-DK-AA6X-01A-12D-A42E-08 TCGA-DK-AA6X-10A-01D-A42H-08 g.chr2:153001419T>A c.500A>T c.(499-501)gAt>gTt p.D167V BLCA 2 153003708 153003708 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr2:153003708C>T c.415G>A c.(415-417)Gaa>Aaa p.E139K BLCA 2 153004799 153004799 + Silent SNP T T C TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr2:153004799T>C c.141A>G c.(139-141)ctA>ctG p.L47L BLCA 2 153006711 153006711 + Missense_Mutation SNP C C A TCGA-FD-A5C1-01A-11D-A289-08 TCGA-FD-A5C1-10A-01D-A289-08 g.chr2:153006711C>A c.73G>T c.(73-75)Gat>Tat p.D25Y BLCA 2 153006744 153006744 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr2:153006744C>T c.e2-1 BRCA 2 152977211 152977211 + Silent SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 g.chr2:152977211C>T c.1455G>A c.(1453-1455)gtG>gtA p.V485V BRCA 2 152980437 152980437 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:152980437G>T c.1192C>A c.(1192-1194)Caa>Aaa p.Q398K BRCA 2 152982824 152982824 + Silent SNP C C T TCGA-BH-A0HK-01A-11W-A071-09 TCGA-BH-A0HK-10A-01W-A071-09 g.chr2:152982824C>T c.1095G>A c.(1093-1095)gtG>gtA p.V365V BRCA 2 152988657 152988657 + Missense_Mutation SNP C C T TCGA-BH-A0DO-01B-11D-A12B-09 TCGA-BH-A0DO-11A-22D-A12B-09 g.chr2:152988657C>T c.996G>A c.(994-996)atG>atA p.M332I BRCA 2 152989949 152989949 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:152989949C>A c.849G>T c.(847-849)aaG>aaT p.K283N BRCA 2 153000517 153000517 + Missense_Mutation SNP T T A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 g.chr2:153000517T>A c.528A>T c.(526-528)ttA>ttT p.L176F CESC 2 153004816 153004817 + Splice_Site INS - - A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 g.chr2:153004816_153004817insA c.e3-2 CESC 2 153004816 153004817 + Splice_Site INS - - A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 g.chr2:153004816_153004817insA c.e3-2 COAD 2 152977247 152977247 + Silent SNP A A G TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:152977247A>G c.1419T>C c.(1417-1419)ggT>ggC p.G473G COAD 2 152977272 152977272 + Missense_Mutation SNP T T C TCGA-AA-3531-01A-01W-0831-10 TCGA-AA-3531-10A-01W-0831-10 g.chr2:152977272T>C c.1394A>G c.(1393-1395)aAc>aGc p.N465S COAD 2 152988651 152988651 + Silent SNP A A G TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr2:152988651A>G c.1002T>C c.(1000-1002)gaT>gaC p.D334D COAD 2 153000432 153000432 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr2:153000432G>A c.613C>T c.(613-615)Cgg>Tgg p.R205W COAD 2 153003752 153003752 + Missense_Mutation SNP G G T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr2:153003752G>T c.371C>A c.(370-372)cCt>cAt p.P124H COAD 2 153003791 153003791 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:153003791G>T c.332C>A c.(331-333)tCt>tAt p.S111Y COADREAD 2 152977247 152977247 + Silent SNP A A G TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:152977247A>G c.1419T>C c.(1417-1419)ggT>ggC p.G473G COADREAD 2 152977272 152977272 + Missense_Mutation SNP T T C TCGA-AA-3531-01A-01W-0831-10 TCGA-AA-3531-10A-01W-0831-10 g.chr2:152977272T>C c.1394A>G c.(1393-1395)aAc>aGc p.N465S COADREAD 2 152988651 152988651 + Silent SNP A A G TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr2:152988651A>G c.1002T>C c.(1000-1002)gaT>gaC p.D334D COADREAD 2 153000432 153000432 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr2:153000432G>A c.613C>T c.(613-615)Cgg>Tgg p.R205W COADREAD 2 153003752 153003752 + Missense_Mutation SNP G G T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr2:153003752G>T c.371C>A c.(370-372)cCt>cAt p.P124H COADREAD 2 153003791 153003791 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:153003791G>T c.332C>A c.(331-333)tCt>tAt p.S111Y COADREAD 2 153006733 153006733 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:153006733C>T c.51G>A c.(49-51)acG>acA p.T17T ESCA 2 152977200 152977200 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 g.chr2:152977200G>T c.1466C>A c.(1465-1467)tCt>tAt p.S489Y ESCA 2 153000481 153000481 + Silent SNP T T A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 g.chr2:153000481T>A c.564A>T c.(562-564)acA>acT p.T188T ESCA 2 153001458 153001458 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr2:153001458G>T c.461C>A c.(460-462)gCt>gAt p.A154D ESCA 2 153004816 153004817 + Splice_Site INS - - A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr2:153004816_153004817insA c.e3-2 GBM 2 153003822 153003822 + Splice_Site SNP C C T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 g.chr2:153003822C>T c.301G>A c.(301-303)Gca>Aca p.A101T GBMLGG 2 152977162 152977162 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:152977162C>A c.1504G>T c.(1504-1506)Ggc>Tgc p.G502C GBMLGG 2 152988660 152988660 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:152988660T>C c.993A>G c.(991-993)ccA>ccG p.P331P GBMLGG 2 153000472 153000472 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:153000472T>C c.573A>G c.(571-573)ttA>ttG p.L191L GBMLGG 2 153003685 153003685 + Silent SNP T T C TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 g.chr2:153003685T>C c.438A>G c.(436-438)gcA>gcG p.A146A GBMLGG 2 153003822 153003822 + Splice_Site SNP C C T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 g.chr2:153003822C>T c.301G>A c.(301-303)Gca>Aca p.A101T HNSC 2 152989924 152989924 + Missense_Mutation SNP T T C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 g.chr2:152989924T>C c.874A>G c.(874-876)Ata>Gta p.I292V HNSC 2 152992035 152992035 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr2:152992035C>T c.787G>A c.(787-789)Gag>Aag p.E263K HNSC 2 153000432 153000432 + Missense_Mutation SNP G G A TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 g.chr2:153000432G>A c.613C>T c.(613-615)Cgg>Tgg p.R205W KIPAN 2 152980339 152980339 + Silent SNP A A C TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr2:152980339A>C c.1290T>G c.(1288-1290)tcT>tcG p.S430S KIRP 2 152980339 152980339 + Silent SNP A A C TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr2:152980339A>C c.1290T>G c.(1288-1290)tcT>tcG p.S430S LGG 2 152977162 152977162 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:152977162C>A c.1504G>T c.(1504-1506)Ggc>Tgc p.G502C LGG 2 152988660 152988660 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:152988660T>C c.993A>G c.(991-993)ccA>ccG p.P331P LGG 2 153000472 153000472 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:153000472T>C c.573A>G c.(571-573)ttA>ttG p.L191L LGG 2 153003685 153003685 + Silent SNP T T C TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 g.chr2:153003685T>C c.438A>G c.(436-438)gcA>gcG p.A146A LUAD 2 152977148 152977148 + Silent SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr2:152977148T>A c.1518A>T c.(1516-1518)acA>acT p.T506T LUAD 2 152977294 152977294 + Missense_Mutation SNP T T G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr2:152977294T>G c.1372A>C c.(1372-1374)Aat>Cat p.N458H LUAD 2 152977303 152977303 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 g.chr2:152977303T>C c.1363A>G c.(1363-1365)Act>Gct p.T455A LUAD 2 152989690 152989690 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr2:152989690C>T c.967G>A c.(967-969)Gaa>Aaa p.E323K LUAD 2 152989769 152989769 + Missense_Mutation SNP C C G TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr2:152989769C>G c.888G>C c.(886-888)aaG>aaC p.K296N LUAD 2 153000426 153000426 + Missense_Mutation SNP C C T TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr2:153000426C>T c.619G>A c.(619-621)Gtg>Atg p.V207M LUSC 2 152977290 152977290 + Missense_Mutation SNP G G T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 g.chr2:152977290G>T c.1376C>A c.(1375-1377)cCt>cAt p.P459H LUSC 2 152977291 152977291 + Missense_Mutation SNP G G C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr2:152977291G>C c.1375C>G c.(1375-1377)Cct>Gct p.P459A OV 2 152988652 152988652 + Missense_Mutation SNP T T G TCGA-13-1410-01A-01W-0492-08 TCGA-13-1410-10A-01W-0493-08 g.chr2:152988652T>G c.1001A>C c.(1000-1002)gAt>gCt p.D334A PAAD 2 152992061 152992061 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:152992061T>G c.761A>C c.(760-762)aAt>aCt p.N254T PRAD 2 153003752 153003752 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:153003752G>T c.371C>A c.(370-372)cCt>cAt p.P124H READ 2 153006733 153006733 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:153006733C>T c.51G>A c.(49-51)acG>acA p.T17T SKCM 2 152989930 152989930 + Missense_Mutation SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr2:152989930C>T c.868G>A c.(868-870)Gtt>Att p.V290I SKCM 2 153000417 153000417 + Missense_Mutation SNP A A T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr2:153000417A>T c.628T>A c.(628-630)Tta>Ata p.L210I SKCM 2 153003815 153003815 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:153003815G>A c.308C>T c.(307-309)cCt>cTt p.P103L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 2 152989969 152989969 single base substitution C T exon_variant BLCA-CN 2 152989969 152989969 single base substitution C T missense_variant D277N 829G>A BLCA-CN 2 152992042 152992042 single base substitution T A exon_variant BLCA-CN 2 152992042 152992042 single base substitution T A missense_variant L260F 780A>T BLCA-US 2 152980445 152980445 single base substitution T C downstream_gene_variant BLCA-US 2 152980445 152980445 single base substitution T C exon_variant BLCA-US 2 152980445 152980445 single base substitution T C missense_variant Y395C 1184A>G BLCA-US 2 153000393 153000393 single base substitution C G downstream_gene_variant BLCA-US 2 153000393 153000393 single base substitution C G exon_variant BLCA-US 2 153000393 153000393 single base substitution C G missense_variant D218H 652G>C BLCA-US 2 153003708 153003708 single base substitution C T exon_variant BLCA-US 2 153003708 153003708 single base substitution C T missense_variant E139K 415G>A BLCA-US 2 153006744 153006744 single base substitution C T intron_variant BLCA-US 2 153006744 153006744 single base substitution C T splice_acceptor_variant BLCA-US 2 153006744 153006744 single base substitution C T upstream_gene_variant BOCA-FR 2 152985227 152985227 single base substitution C T downstream_gene_variant BOCA-FR 2 152985227 152985227 single base substitution C T intron_variant BOCA-FR 2 152985227 152985227 single base substitution C T upstream_gene_variant BOCA-FR 2 153030636 153030636 single base substitution C T intron_variant BRCA-EU 2 152968726 152968726 single base substitution G C downstream_gene_variant BRCA-EU 2 152970299 152970299 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 152970376 152970376 single base substitution C T downstream_gene_variant BRCA-EU 2 152971894 152971894 single base substitution C G downstream_gene_variant BRCA-EU 2 152975943 152975943 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 152975943 152975943 single base substitution G A downstream_gene_variant BRCA-EU 2 152976680 152976680 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 152976680 152976680 single base substitution C T downstream_gene_variant BRCA-EU 2 152977660 152977660 single base substitution A T downstream_gene_variant BRCA-EU 2 152977660 152977660 single base substitution A T intron_variant BRCA-EU 2 152977938 152977938 single base substitution C T downstream_gene_variant BRCA-EU 2 152977938 152977938 single base substitution C T intron_variant BRCA-EU 2 152978831 152978831 single base substitution C G downstream_gene_variant BRCA-EU 2 152978831 152978831 single base substitution C G intron_variant BRCA-EU 2 152979056 152979056 single base substitution A C downstream_gene_variant BRCA-EU 2 152979056 152979056 single base substitution A C intron_variant BRCA-EU 2 152981349 152981349 single base substitution T A downstream_gene_variant BRCA-EU 2 152981349 152981349 single base substitution T A intron_variant BRCA-EU 2 152981349 152981349 single base substitution T A upstream_gene_variant BRCA-EU 2 152982360 152982360 single base substitution G T downstream_gene_variant BRCA-EU 2 152982360 152982360 single base substitution G T intron_variant BRCA-EU 2 152982360 152982360 single base substitution G T upstream_gene_variant BRCA-EU 2 152982625 152982625 single base substitution A T exon_variant BRCA-EU 2 152982625 152982625 single base substitution A T intron_variant BRCA-EU 2 152982625 152982625 single base substitution A T upstream_gene_variant BRCA-EU 2 152982913 152982913 single base substitution T C intron_variant BRCA-EU 2 152982913 152982913 single base substitution T C upstream_gene_variant BRCA-EU 2 152983100 152983100 single base substitution G C intron_variant BRCA-EU 2 152983100 152983100 single base substitution G C upstream_gene_variant BRCA-EU 2 152983419 152983419 single base substitution C G downstream_gene_variant BRCA-EU 2 152983419 152983419 single base substitution C G intron_variant BRCA-EU 2 152983419 152983419 single base substitution C G upstream_gene_variant BRCA-EU 2 152983445 152983445 single base substitution C G downstream_gene_variant BRCA-EU 2 152983445 152983445 single base substitution C G intron_variant BRCA-EU 2 152983445 152983445 single base substitution C G upstream_gene_variant BRCA-EU 2 152986469 152986469 single base substitution A G downstream_gene_variant BRCA-EU 2 152986469 152986469 single base substitution A G intron_variant BRCA-EU 2 152986835 152986835 single base substitution G A downstream_gene_variant BRCA-EU 2 152986835 152986835 single base substitution G A intron_variant BRCA-EU 2 152987269 152987269 single base substitution T C downstream_gene_variant BRCA-EU 2 152987269 152987269 single base substitution T C intron_variant BRCA-EU 2 152988431 152988431 single base substitution C T exon_variant BRCA-EU 2 152988431 152988431 single base substitution C T intron_variant BRCA-EU 2 152989216 152989216 deletion of <=200bp T - intron_variant BRCA-EU 2 152989938 152989938 single base substitution G T exon_variant BRCA-EU 2 152989938 152989938 single base substitution G T missense_variant P287H 860C>A BRCA-EU 2 152990216 152990216 single base substitution C G intron_variant BRCA-EU 2 152990486 152990486 single base substitution A G intron_variant BRCA-EU 2 152990557 152990558 deletion of <=200bp AA - intron_variant BRCA-EU 2 152990784 152990784 single base substitution A G intron_variant BRCA-EU 2 152991373 152991373 single base substitution C G intron_variant BRCA-EU 2 152991419 152991419 single base substitution C T intron_variant BRCA-EU 2 152991623 152991623 single base substitution C T intron_variant BRCA-EU 2 152992722 152992722 single base substitution C T intron_variant BRCA-EU 2 152993458 152993458 single base substitution G A intron_variant BRCA-EU 2 152993653 152993653 single base substitution C T intron_variant BRCA-EU 2 152993941 152993941 deletion of <=200bp T - intron_variant BRCA-EU 2 152994713 152994713 single base substitution A C intron_variant BRCA-EU 2 152994886 152994886 deletion of <=200bp T - intron_variant BRCA-EU 2 152996091 152996091 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 152996091 152996091 deletion of <=200bp A - intron_variant BRCA-EU 2 152996937 152996937 single base substitution C A downstream_gene_variant BRCA-EU 2 152996937 152996937 single base substitution C A intron_variant BRCA-EU 2 152997816 152997816 single base substitution G A downstream_gene_variant BRCA-EU 2 152997816 152997816 single base substitution G A intron_variant BRCA-EU 2 152998207 152998207 single base substitution C T downstream_gene_variant BRCA-EU 2 152998207 152998207 single base substitution C T intron_variant BRCA-EU 2 152998607 152998607 single base substitution C T downstream_gene_variant BRCA-EU 2 152998607 152998607 single base substitution C T intron_variant BRCA-EU 2 152998611 152998611 single base substitution C G downstream_gene_variant BRCA-EU 2 152998611 152998611 single base substitution C G intron_variant BRCA-EU 2 153002818 153002818 single base substitution T G intron_variant BRCA-EU 2 153004151 153004151 single base substitution C T intron_variant BRCA-EU 2 153005059 153005059 single base substitution C T intron_variant BRCA-EU 2 153006677 153006677 single base substitution A G exon_variant BRCA-EU 2 153006677 153006677 single base substitution A G intron_variant BRCA-EU 2 153006677 153006677 single base substitution A G missense_variant V36A 107T>C BRCA-EU 2 153006753 153006753 single base substitution A T intron_variant BRCA-EU 2 153006753 153006753 single base substitution A T upstream_gene_variant BRCA-EU 2 153008170 153008170 single base substitution G A intron_variant BRCA-EU 2 153008170 153008170 single base substitution G A upstream_gene_variant BRCA-EU 2 153008723 153008723 single base substitution G A intron_variant BRCA-EU 2 153008723 153008723 single base substitution G A upstream_gene_variant BRCA-EU 2 153010370 153010370 single base substitution C T intron_variant BRCA-EU 2 153010370 153010370 single base substitution C T upstream_gene_variant BRCA-EU 2 153012711 153012711 single base substitution G A intron_variant BRCA-EU 2 153012949 153012949 single base substitution C G intron_variant BRCA-EU 2 153017498 153017498 single base substitution C G intron_variant BRCA-EU 2 153018087 153018087 single base substitution G C intron_variant BRCA-EU 2 153018430 153018430 single base substitution G A intron_variant BRCA-EU 2 153019367 153019367 single base substitution C T intron_variant BRCA-EU 2 153023409 153023409 single base substitution C G intron_variant BRCA-EU 2 153023625 153023625 single base substitution T A intron_variant BRCA-EU 2 153023762 153023762 single base substitution C A intron_variant BRCA-EU 2 153024079 153024079 single base substitution C T intron_variant BRCA-EU 2 153025396 153025396 single base substitution A C intron_variant BRCA-EU 2 153026839 153026839 deletion of <=200bp A - intron_variant BRCA-EU 2 153027013 153027013 deletion of <=200bp G - intron_variant BRCA-EU 2 153027348 153027348 deletion of <=200bp A - intron_variant BRCA-EU 2 153027619 153027619 single base substitution T G intron_variant BRCA-EU 2 153028343 153028343 single base substitution T C intron_variant BRCA-EU 2 153029146 153029146 single base substitution G A intron_variant BRCA-EU 2 153034533 153034533 single base substitution A T upstream_gene_variant BRCA-EU 2 153035264 153035264 single base substitution G T upstream_gene_variant BRCA-EU 2 153035279 153035279 single base substitution G A upstream_gene_variant BRCA-EU 2 153035417 153035417 single base substitution G A upstream_gene_variant BRCA-EU 2 153035995 153035995 single base substitution T C upstream_gene_variant BRCA-EU 2 153036305 153036305 single base substitution C A upstream_gene_variant BRCA-EU 2 153036322 153036322 single base substitution C T upstream_gene_variant BRCA-EU 2 153036870 153036870 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 153037506 153037506 single base substitution G A upstream_gene_variant BRCA-FR 2 152983419 152983419 single base substitution C G downstream_gene_variant BRCA-FR 2 152983419 152983419 single base substitution C G intron_variant BRCA-FR 2 152983419 152983419 single base substitution C G upstream_gene_variant BRCA-FR 2 152983445 152983445 single base substitution C G downstream_gene_variant BRCA-FR 2 152983445 152983445 single base substitution C G intron_variant BRCA-FR 2 152983445 152983445 single base substitution C G upstream_gene_variant BRCA-FR 2 152989323 152989323 single base substitution C T intron_variant BRCA-FR 2 152990216 152990216 single base substitution C G intron_variant BRCA-FR 2 152991373 152991373 single base substitution C G intron_variant BRCA-FR 2 152991419 152991419 single base substitution C T intron_variant BRCA-FR 2 152997816 152997816 single base substitution G A downstream_gene_variant BRCA-FR 2 152997816 152997816 single base substitution G A intron_variant BRCA-FR 2 153002818 153002818 single base substitution T G intron_variant BRCA-FR 2 153008170 153008170 single base substitution G A intron_variant BRCA-FR 2 153008170 153008170 single base substitution G A upstream_gene_variant BRCA-FR 2 153018069 153018069 single base substitution C G intron_variant BRCA-FR 2 153018430 153018430 single base substitution G A intron_variant BRCA-FR 2 153028431 153028431 single base substitution G C intron_variant BRCA-UK 2 153012949 153012949 single base substitution C G intron_variant BRCA-US 2 152977211 152977211 single base substitution C T exon_variant BRCA-US 2 152977211 152977211 single base substitution C T synonymous_variant V485V 1455G>A BRCA-US 2 152980437 152980437 single base substitution G T downstream_gene_variant BRCA-US 2 152980437 152980437 single base substitution G T exon_variant BRCA-US 2 152980437 152980437 single base substitution G T missense_variant Q398K 1192C>A BRCA-US 2 152982824 152982824 single base substitution C T exon_variant BRCA-US 2 152982824 152982824 single base substitution C T synonymous_variant V365V 1095G>A BRCA-US 2 152982824 152982824 single base substitution C T upstream_gene_variant BRCA-US 2 152988657 152988657 single base substitution C T exon_variant BRCA-US 2 152988657 152988657 single base substitution C T missense_variant M332I 996G>A BRCA-US 2 152989949 152989949 single base substitution C A exon_variant BRCA-US 2 152989949 152989949 single base substitution C A missense_variant K283N 849G>T BRCA-US 2 153000517 153000517 single base substitution T A exon_variant BRCA-US 2 153000517 153000517 single base substitution T A missense_variant L176F 528A>T BTCA-JP 2 152980357 152980357 single base substitution T G downstream_gene_variant BTCA-JP 2 152980357 152980357 single base substitution T G exon_variant BTCA-JP 2 152980357 152980357 single base substitution T G missense_variant Q424H 1272A>C BTCA-JP 2 153006529 153006529 single base substitution G A intron_variant BTCA-JP 2 153006574 153006574 single base substitution C G intron_variant BTCA-JP 2 153006617 153006632 deletion of <=200bp TCAAGTTCCTAGACAT - intron_variant CESC-US 2 153001276 153001276 single base substitution C G exon_variant CESC-US 2 153001276 153001276 single base substitution C G intron_variant CESC-US 2 153004816 153004816 insertion of <=200bp - A splice_acceptor_variant CLLE-ES 2 152993945 152993945 single base substitution T C intron_variant CLLE-ES 2 152994482 152994482 single base substitution T A intron_variant CLLE-ES 2 153010067 153010067 single base substitution T C intron_variant CLLE-ES 2 153010067 153010067 single base substitution T C upstream_gene_variant COAD-US 2 153000432 153000432 single base substitution G A downstream_gene_variant COAD-US 2 153000432 153000432 single base substitution G A exon_variant COAD-US 2 153000432 153000432 single base substitution G A missense_variant R205W 613C>T COAD-US 2 153003752 153003752 single base substitution G T exon_variant COAD-US 2 153003752 153003752 single base substitution G T missense_variant P124H 371C>A COCA-CN 2 152977330 152977330 single base substitution T G intron_variant COCA-CN 2 152977338 152977338 single base substitution G T intron_variant COCA-CN 2 152980330 152980330 single base substitution T C downstream_gene_variant COCA-CN 2 152980330 152980330 single base substitution T C exon_variant COCA-CN 2 152980330 152980330 single base substitution T C synonymous_variant P433P 1299A>G COCA-CN 2 153001361 153001361 single base substitution T G intron_variant COCA-CN 2 153004584 153004584 single base substitution C T exon_variant COCA-CN 2 153004584 153004584 single base substitution C T missense_variant C85Y 254G>A EOPC-DE 2 152970122 152970122 single base substitution C T downstream_gene_variant EOPC-DE 2 152991710 152991710 single base substitution T C intron_variant ESAD-UK 2 152969549 152969549 single base substitution C T downstream_gene_variant ESAD-UK 2 152970177 152970177 single base substitution C T downstream_gene_variant ESAD-UK 2 152970624 152970624 single base substitution A C downstream_gene_variant ESAD-UK 2 152971267 152971267 single base substitution A G downstream_gene_variant ESAD-UK 2 152971775 152971775 single base substitution T C downstream_gene_variant ESAD-UK 2 152972331 152972331 single base substitution G A downstream_gene_variant ESAD-UK 2 152973696 152973696 single base substitution G C 3_prime_UTR_variant ESAD-UK 2 152973696 152973696 single base substitution G C downstream_gene_variant ESAD-UK 2 152976674 152976674 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 152976674 152976674 single base substitution C T downstream_gene_variant ESAD-UK 2 152977661 152977661 single base substitution T A downstream_gene_variant ESAD-UK 2 152977661 152977661 single base substitution T A intron_variant ESAD-UK 2 152979401 152979401 single base substitution G A downstream_gene_variant ESAD-UK 2 152979401 152979401 single base substitution G A intron_variant ESAD-UK 2 152979999 152979999 single base substitution T A downstream_gene_variant ESAD-UK 2 152979999 152979999 single base substitution T A intron_variant ESAD-UK 2 152980133 152980133 single base substitution T C downstream_gene_variant ESAD-UK 2 152980133 152980133 single base substitution T C intron_variant ESAD-UK 2 152980463 152980463 single base substitution A T downstream_gene_variant ESAD-UK 2 152980463 152980463 single base substitution A T exon_variant ESAD-UK 2 152980463 152980463 single base substitution A T intron_variant ESAD-UK 2 152980609 152980609 single base substitution G C downstream_gene_variant ESAD-UK 2 152980609 152980609 single base substitution G C exon_variant ESAD-UK 2 152980609 152980609 single base substitution G C intron_variant ESAD-UK 2 152983270 152983270 insertion of <=200bp - A intron_variant ESAD-UK 2 152983270 152983270 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 152984632 152984632 single base substitution A T downstream_gene_variant ESAD-UK 2 152984632 152984632 single base substitution A T intron_variant ESAD-UK 2 152984632 152984632 single base substitution A T upstream_gene_variant ESAD-UK 2 152986232 152986232 single base substitution A G downstream_gene_variant ESAD-UK 2 152986232 152986232 single base substitution A G intron_variant ESAD-UK 2 152986905 152986905 single base substitution A C downstream_gene_variant ESAD-UK 2 152986905 152986905 single base substitution A C intron_variant ESAD-UK 2 152987643 152987643 single base substitution T G downstream_gene_variant ESAD-UK 2 152987643 152987643 single base substitution T G intron_variant ESAD-UK 2 152989156 152989156 single base substitution T A intron_variant ESAD-UK 2 152991280 152991283 deletion of <=200bp TAGC - intron_variant ESAD-UK 2 152993127 152993127 single base substitution A G intron_variant ESAD-UK 2 152993941 152993941 deletion of <=200bp T - intron_variant ESAD-UK 2 152993950 152993950 single base substitution G A intron_variant ESAD-UK 2 152995836 152995836 single base substitution T G downstream_gene_variant ESAD-UK 2 152995836 152995836 single base substitution T G intron_variant ESAD-UK 2 152996343 152996343 single base substitution A T downstream_gene_variant ESAD-UK 2 152996343 152996343 single base substitution A T intron_variant ESAD-UK 2 152996880 152996880 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 152996880 152996880 deletion of <=200bp A - intron_variant ESAD-UK 2 152997869 152997869 single base substitution G A downstream_gene_variant ESAD-UK 2 152997869 152997869 single base substitution G A intron_variant ESAD-UK 2 153005165 153005165 single base substitution C T intron_variant ESAD-UK 2 153007122 153007122 single base substitution C A intron_variant ESAD-UK 2 153007122 153007122 single base substitution C A upstream_gene_variant ESAD-UK 2 153009090 153009090 single base substitution C A intron_variant ESAD-UK 2 153009090 153009090 single base substitution C A upstream_gene_variant ESAD-UK 2 153018926 153018926 single base substitution A T intron_variant ESAD-UK 2 153021667 153021667 single base substitution C T intron_variant ESAD-UK 2 153022869 153022871 deletion of <=200bp AAG - intron_variant ESAD-UK 2 153025640 153025640 single base substitution C T intron_variant ESAD-UK 2 153029091 153029091 single base substitution G A intron_variant ESAD-UK 2 153030967 153030967 single base substitution A C intron_variant ESAD-UK 2 153035265 153035265 single base substitution T G upstream_gene_variant ESAD-UK 2 153036011 153036011 single base substitution C T upstream_gene_variant ESAD-UK 2 153037040 153037040 single base substitution G A upstream_gene_variant ESCA-CN 2 152989705 152989705 single base substitution C A exon_variant ESCA-CN 2 152989705 152989705 single base substitution C A missense_variant D318Y 952G>T ESCA-CN 2 153032097 153032097 single base substitution G A intron_variant GBM-US 2 153003822 153003822 single base substitution C T missense_variant A101T 301G>A GBM-US 2 153003822 153003822 single base substitution C T splice_region_variant LAML-KR 2 153017416 153017416 single base substitution C T intron_variant LAML-KR 2 153017450 153017450 single base substitution A G intron_variant LGG-US 2 153003685 153003685 single base substitution T C exon_variant LGG-US 2 153003685 153003685 single base substitution T C synonymous_variant A146A 438A>G LICA-FR 2 153002786 153002786 deletion of <=200bp A - intron_variant LICA-FR 2 153003048 153003048 single base substitution C T intron_variant LICA-FR 2 153005583 153005583 single base substitution T A intron_variant LICA-FR 2 153029959 153029959 single base substitution G A intron_variant LICA-FR 2 153034740 153034740 single base substitution T C upstream_gene_variant LICA-FR 2 153036165 153036165 single base substitution T C upstream_gene_variant LINC-JP 2 152980238 152980238 single base substitution A C downstream_gene_variant LINC-JP 2 152980238 152980238 single base substitution A C intron_variant LINC-JP 2 152982748 152982748 single base substitution G T exon_variant LINC-JP 2 152982748 152982748 single base substitution G T missense_variant P391T 1171C>A LINC-JP 2 152982748 152982748 single base substitution G T upstream_gene_variant LINC-JP 2 152995481 152995481 single base substitution T C downstream_gene_variant LINC-JP 2 152995481 152995481 single base substitution T C intron_variant LINC-JP 2 152999777 152999777 single base substitution G C downstream_gene_variant LINC-JP 2 152999777 152999777 single base substitution G C intron_variant LINC-JP 2 153002949 153002949 single base substitution A G intron_variant LINC-JP 2 153002971 153002971 single base substitution T C intron_variant LINC-JP 2 153003600 153003600 single base substitution C G intron_variant LINC-JP 2 153004753 153004753 single base substitution G C exon_variant LINC-JP 2 153004753 153004753 single base substitution G C missense_variant L63V 187C>G LINC-JP 2 153006847 153006847 single base substitution G A intron_variant LINC-JP 2 153006847 153006847 single base substitution G A upstream_gene_variant LINC-JP 2 153016087 153016087 single base substitution C T intron_variant LINC-JP 2 153023502 153023502 single base substitution C A intron_variant LINC-JP 2 153032124 153032124 single base substitution T G exon_variant LINC-JP 2 153032124 153032124 single base substitution T G missense_variant Q11H 33A>C LINC-JP 2 153033169 153033169 single base substitution C T upstream_gene_variant LINC-JP 2 153033170 153033170 single base substitution T C upstream_gene_variant LIRI-JP 2 152968536 152968536 single base substitution C T downstream_gene_variant LIRI-JP 2 152973075 152973075 single base substitution T C downstream_gene_variant LIRI-JP 2 152975486 152975486 single base substitution A C 3_prime_UTR_variant LIRI-JP 2 152975486 152975486 single base substitution A C downstream_gene_variant LIRI-JP 2 152977924 152977924 single base substitution C T downstream_gene_variant LIRI-JP 2 152977924 152977924 single base substitution C T intron_variant LIRI-JP 2 152978984 152978984 single base substitution A C downstream_gene_variant LIRI-JP 2 152978984 152978984 single base substitution A C intron_variant LIRI-JP 2 152980919 152980919 single base substitution T C downstream_gene_variant LIRI-JP 2 152980919 152980919 single base substitution T C exon_variant LIRI-JP 2 152980919 152980919 single base substitution T C intron_variant LIRI-JP 2 152981531 152981531 single base substitution C G downstream_gene_variant LIRI-JP 2 152981531 152981531 single base substitution C G intron_variant LIRI-JP 2 152981531 152981531 single base substitution C G upstream_gene_variant LIRI-JP 2 152984218 152984218 single base substitution G C downstream_gene_variant LIRI-JP 2 152984218 152984218 single base substitution G C intron_variant LIRI-JP 2 152984218 152984218 single base substitution G C upstream_gene_variant LIRI-JP 2 152986169 152986169 single base substitution C T downstream_gene_variant LIRI-JP 2 152986169 152986169 single base substitution C T intron_variant LIRI-JP 2 152986169 152986169 single base substitution C T upstream_gene_variant LIRI-JP 2 152986414 152986414 single base substitution A G downstream_gene_variant LIRI-JP 2 152986414 152986414 single base substitution A G intron_variant LIRI-JP 2 152987338 152987338 single base substitution A G downstream_gene_variant LIRI-JP 2 152987338 152987338 single base substitution A G intron_variant LIRI-JP 2 152988717 152988717 single base substitution T C intron_variant LIRI-JP 2 152989133 152989133 single base substitution T A intron_variant LIRI-JP 2 152989706 152989706 single base substitution T G exon_variant LIRI-JP 2 152989706 152989706 single base substitution T G missense_variant Q317H 951A>C LIRI-JP 2 152990516 152990516 single base substitution G A intron_variant LIRI-JP 2 152990521 152990521 single base substitution T C intron_variant LIRI-JP 2 152991913 152991913 single base substitution T C intron_variant LIRI-JP 2 152995052 152995052 single base substitution T C intron_variant LIRI-JP 2 152995096 152995096 single base substitution C A intron_variant LIRI-JP 2 152996227 152996227 single base substitution T A downstream_gene_variant LIRI-JP 2 152996227 152996227 single base substitution T A intron_variant LIRI-JP 2 152996794 152996794 single base substitution A T downstream_gene_variant LIRI-JP 2 152996794 152996794 single base substitution A T intron_variant LIRI-JP 2 152998280 152998280 single base substitution T A downstream_gene_variant LIRI-JP 2 152998280 152998280 single base substitution T A intron_variant LIRI-JP 2 152999342 152999342 single base substitution T A downstream_gene_variant LIRI-JP 2 152999342 152999342 single base substitution T A intron_variant LIRI-JP 2 152999765 152999765 single base substitution C A downstream_gene_variant LIRI-JP 2 152999765 152999765 single base substitution C A intron_variant LIRI-JP 2 153001392 153001392 single base substitution G A intron_variant LIRI-JP 2 153003033 153003036 deletion of <=200bp AAAT - intron_variant LIRI-JP 2 153004627 153004627 single base substitution C T exon_variant LIRI-JP 2 153004627 153004627 single base substitution C T missense_variant A71T 211G>A LIRI-JP 2 153007580 153007580 single base substitution T C intron_variant LIRI-JP 2 153007580 153007580 single base substitution T C upstream_gene_variant LIRI-JP 2 153009347 153009347 single base substitution T C intron_variant LIRI-JP 2 153009347 153009347 single base substitution T C upstream_gene_variant LIRI-JP 2 153011929 153011929 single base substitution G A intron_variant LIRI-JP 2 153012822 153012822 single base substitution G T intron_variant LIRI-JP 2 153014166 153014166 single base substitution C T intron_variant LIRI-JP 2 153016067 153016067 single base substitution T C intron_variant LIRI-JP 2 153016140 153016140 single base substitution A C intron_variant LIRI-JP 2 153018080 153018080 single base substitution A G intron_variant LIRI-JP 2 153020282 153020282 single base substitution G A intron_variant LIRI-JP 2 153020437 153020437 single base substitution T A intron_variant LIRI-JP 2 153021057 153021057 single base substitution T C intron_variant LIRI-JP 2 153022538 153022538 single base substitution G A intron_variant LIRI-JP 2 153022914 153022914 single base substitution A T intron_variant LIRI-JP 2 153024105 153024105 single base substitution C T intron_variant LIRI-JP 2 153026204 153026204 single base substitution A G intron_variant LIRI-JP 2 153027864 153027864 single base substitution T C intron_variant LIRI-JP 2 153028161 153028161 single base substitution A C intron_variant LIRI-JP 2 153029934 153029934 single base substitution C T intron_variant LIRI-JP 2 153031548 153031548 single base substitution T C intron_variant LIRI-JP 2 153033496 153033496 single base substitution G C upstream_gene_variant LIRI-JP 2 153035843 153035843 single base substitution C T upstream_gene_variant LIRI-JP 2 153036310 153036310 single base substitution G T upstream_gene_variant LIRI-JP 2 153036625 153036625 single base substitution A G upstream_gene_variant LIRI-JP 2 153037388 153037388 single base substitution T C upstream_gene_variant LIRI-JP 2 153037407 153037407 single base substitution G A upstream_gene_variant LUSC-KR 2 152969787 152969787 single base substitution C A downstream_gene_variant LUSC-KR 2 152972165 152972165 single base substitution C T downstream_gene_variant LUSC-KR 2 152979110 152979110 single base substitution T A downstream_gene_variant LUSC-KR 2 152979110 152979110 single base substitution T A intron_variant LUSC-KR 2 152979872 152979872 single base substitution G A downstream_gene_variant LUSC-KR 2 152979872 152979872 single base substitution G A intron_variant LUSC-KR 2 152985986 152985986 single base substitution T C downstream_gene_variant LUSC-KR 2 152985986 152985986 single base substitution T C intron_variant LUSC-KR 2 152985986 152985986 single base substitution T C upstream_gene_variant LUSC-KR 2 152987395 152987395 single base substitution T C downstream_gene_variant LUSC-KR 2 152987395 152987395 single base substitution T C intron_variant LUSC-KR 2 152988680 152988680 single base substitution T C missense_variant I325V 973A>G LUSC-KR 2 152988680 152988680 single base substitution T C splice_region_variant LUSC-KR 2 152990208 152990208 single base substitution G C intron_variant LUSC-KR 2 152991240 152991240 single base substitution C T intron_variant LUSC-KR 2 152996328 152996328 single base substitution T C downstream_gene_variant LUSC-KR 2 152996328 152996328 single base substitution T C intron_variant LUSC-KR 2 153001181 153001181 single base substitution T C intron_variant LUSC-KR 2 153003410 153003410 single base substitution T C intron_variant LUSC-KR 2 153004967 153004967 single base substitution T C intron_variant LUSC-KR 2 153010152 153010152 single base substitution T A intron_variant LUSC-KR 2 153010152 153010152 single base substitution T A upstream_gene_variant LUSC-KR 2 153012090 153012090 single base substitution C T intron_variant LUSC-KR 2 153013622 153013622 single base substitution G C intron_variant LUSC-KR 2 153017368 153017368 single base substitution G A intron_variant LUSC-KR 2 153021497 153021497 single base substitution C T intron_variant LUSC-KR 2 153022828 153022828 single base substitution G A intron_variant LUSC-KR 2 153026796 153026796 single base substitution C A intron_variant LUSC-KR 2 153030505 153030505 single base substitution T C intron_variant LUSC-KR 2 153032581 153032581 single base substitution G A upstream_gene_variant LUSC-KR 2 153034665 153034665 single base substitution G T upstream_gene_variant LUSC-US 2 152977290 152977290 single base substitution G T exon_variant LUSC-US 2 152977290 152977290 single base substitution G T missense_variant P459H 1376C>A LUSC-US 2 152977291 152977291 single base substitution G C exon_variant LUSC-US 2 152977291 152977291 single base substitution G C missense_variant P459A 1375C>G MALY-DE 2 152969386 152969386 single base substitution C T downstream_gene_variant MALY-DE 2 152971761 152971761 single base substitution A T downstream_gene_variant MALY-DE 2 152971765 152971765 single base substitution A G downstream_gene_variant MALY-DE 2 152977105 152977105 single base substitution G A exon_variant MALY-DE 2 152977105 152977105 single base substitution G A stop_gained Q521* 1561C>T MALY-DE 2 152989262 152989262 single base substitution T G intron_variant MALY-DE 2 152997631 152997631 single base substitution C T downstream_gene_variant MALY-DE 2 152997631 152997631 single base substitution C T intron_variant MALY-DE 2 152999636 152999636 single base substitution C G downstream_gene_variant MALY-DE 2 152999636 152999636 single base substitution C G intron_variant MALY-DE 2 153003970 153003970 single base substitution T C intron_variant MALY-DE 2 153005203 153005203 single base substitution C G intron_variant MALY-DE 2 153007297 153007297 single base substitution A G intron_variant MALY-DE 2 153007297 153007297 single base substitution A G upstream_gene_variant MALY-DE 2 153008886 153008886 single base substitution A C intron_variant MALY-DE 2 153008886 153008886 single base substitution A C upstream_gene_variant MALY-DE 2 153027745 153027745 deletion of <=200bp A - intron_variant MALY-DE 2 153035143 153035143 single base substitution C T upstream_gene_variant MELA-AU 2 152969003 152969003 single base substitution G A downstream_gene_variant MELA-AU 2 152969340 152969340 single base substitution G A downstream_gene_variant MELA-AU 2 152969390 152969390 single base substitution G A downstream_gene_variant MELA-AU 2 152969642 152969642 single base substitution G A downstream_gene_variant MELA-AU 2 152970209 152970209 single base substitution G A downstream_gene_variant MELA-AU 2 152970243 152970243 single base substitution G A downstream_gene_variant MELA-AU 2 152970431 152970431 single base substitution G A downstream_gene_variant MELA-AU 2 152970461 152970461 single base substitution G A downstream_gene_variant MELA-AU 2 152971767 152971767 single base substitution T A downstream_gene_variant MELA-AU 2 152972470 152972470 single base substitution G A downstream_gene_variant MELA-AU 2 152972730 152972731 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 152972847 152972847 single base substitution G A downstream_gene_variant MELA-AU 2 152974100 152974100 single base substitution A T 3_prime_UTR_variant MELA-AU 2 152974100 152974100 single base substitution A T downstream_gene_variant MELA-AU 2 152974431 152974431 deletion of <=200bp A - 3_prime_UTR_variant MELA-AU 2 152974431 152974431 deletion of <=200bp A - downstream_gene_variant MELA-AU 2 152974775 152974775 single base substitution G A 3_prime_UTR_variant MELA-AU 2 152974775 152974775 single base substitution G A downstream_gene_variant MELA-AU 2 152975062 152975062 single base substitution G A 3_prime_UTR_variant MELA-AU 2 152975062 152975062 single base substitution G A downstream_gene_variant MELA-AU 2 152976271 152976271 single base substitution C T 3_prime_UTR_variant MELA-AU 2 152976271 152976271 single base substitution C T downstream_gene_variant MELA-AU 2 152976586 152976586 single base substitution G A 3_prime_UTR_variant MELA-AU 2 152976586 152976586 single base substitution G A downstream_gene_variant MELA-AU 2 152977626 152977626 single base substitution A C downstream_gene_variant MELA-AU 2 152977626 152977626 single base substitution A C intron_variant MELA-AU 2 152977717 152977717 single base substitution G A downstream_gene_variant MELA-AU 2 152977717 152977717 single base substitution G A intron_variant MELA-AU 2 152978309 152978309 single base substitution A G downstream_gene_variant MELA-AU 2 152978309 152978309 single base substitution A G intron_variant MELA-AU 2 152978381 152978381 single base substitution A C downstream_gene_variant MELA-AU 2 152978381 152978381 single base substitution A C intron_variant MELA-AU 2 152978831 152978831 single base substitution C T downstream_gene_variant MELA-AU 2 152978831 152978831 single base substitution C T intron_variant MELA-AU 2 152980190 152980190 single base substitution A T downstream_gene_variant MELA-AU 2 152980190 152980190 single base substitution A T intron_variant MELA-AU 2 152980626 152980626 single base substitution A G downstream_gene_variant MELA-AU 2 152980626 152980626 single base substitution A G exon_variant MELA-AU 2 152980626 152980626 single base substitution A G intron_variant MELA-AU 2 152982041 152982041 single base substitution G A downstream_gene_variant MELA-AU 2 152982041 152982041 single base substitution G A intron_variant MELA-AU 2 152982041 152982041 single base substitution G A upstream_gene_variant MELA-AU 2 152982409 152982409 single base substitution C T downstream_gene_variant MELA-AU 2 152982409 152982409 single base substitution C T intron_variant MELA-AU 2 152982409 152982409 single base substitution C T upstream_gene_variant MELA-AU 2 152982759 152982759 single base substitution G A exon_variant MELA-AU 2 152982759 152982759 single base substitution G A missense_variant S387L 1160C>T MELA-AU 2 152982759 152982759 single base substitution G A upstream_gene_variant MELA-AU 2 152983158 152983158 single base substitution G A intron_variant MELA-AU 2 152983158 152983158 single base substitution G A upstream_gene_variant MELA-AU 2 152983904 152983904 single base substitution G A downstream_gene_variant MELA-AU 2 152983904 152983904 single base substitution G A intron_variant MELA-AU 2 152983904 152983904 single base substitution G A upstream_gene_variant MELA-AU 2 152984572 152984572 single base substitution G A downstream_gene_variant MELA-AU 2 152984572 152984572 single base substitution G A intron_variant MELA-AU 2 152984572 152984572 single base substitution G A upstream_gene_variant MELA-AU 2 152984584 152984584 single base substitution C T downstream_gene_variant MELA-AU 2 152984584 152984584 single base substitution C T intron_variant MELA-AU 2 152984584 152984584 single base substitution C T upstream_gene_variant MELA-AU 2 152985182 152985183 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 152985182 152985183 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 152985182 152985183 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 152985191 152985191 single base substitution G A downstream_gene_variant MELA-AU 2 152985191 152985191 single base substitution G A intron_variant MELA-AU 2 152985191 152985191 single base substitution G A upstream_gene_variant MELA-AU 2 152985435 152985435 single base substitution G A downstream_gene_variant MELA-AU 2 152985435 152985435 single base substitution G A intron_variant MELA-AU 2 152985435 152985435 single base substitution G A upstream_gene_variant MELA-AU 2 152986987 152986987 single base substitution G A downstream_gene_variant MELA-AU 2 152986987 152986987 single base substitution G A intron_variant MELA-AU 2 152987068 152987068 single base substitution C T downstream_gene_variant MELA-AU 2 152987068 152987068 single base substitution C T intron_variant MELA-AU 2 152987565 152987565 single base substitution G A downstream_gene_variant MELA-AU 2 152987565 152987565 single base substitution G A intron_variant MELA-AU 2 152987583 152987583 single base substitution C T downstream_gene_variant MELA-AU 2 152987583 152987583 single base substitution C T intron_variant MELA-AU 2 152987692 152987692 single base substitution G A downstream_gene_variant MELA-AU 2 152987692 152987692 single base substitution G A intron_variant MELA-AU 2 152987870 152987870 single base substitution G A downstream_gene_variant MELA-AU 2 152987870 152987870 single base substitution G A intron_variant MELA-AU 2 152989388 152989388 single base substitution A C intron_variant MELA-AU 2 152989896 152989896 single base substitution A G intron_variant MELA-AU 2 152989907 152989907 single base substitution G A intron_variant MELA-AU 2 152994467 152994467 single base substitution G A intron_variant MELA-AU 2 152994524 152994524 single base substitution G A intron_variant MELA-AU 2 152995011 152995011 single base substitution G A intron_variant MELA-AU 2 152995448 152995448 single base substitution C T downstream_gene_variant MELA-AU 2 152995448 152995448 single base substitution C T intron_variant MELA-AU 2 152995692 152995692 single base substitution A T downstream_gene_variant MELA-AU 2 152995692 152995692 single base substitution A T intron_variant MELA-AU 2 152995698 152995698 single base substitution G A downstream_gene_variant MELA-AU 2 152995698 152995698 single base substitution G A intron_variant MELA-AU 2 152995850 152995850 single base substitution C T downstream_gene_variant MELA-AU 2 152995850 152995850 single base substitution C T intron_variant MELA-AU 2 152995969 152995969 single base substitution G C downstream_gene_variant MELA-AU 2 152995969 152995969 single base substitution G C intron_variant MELA-AU 2 152996786 152996786 single base substitution G A downstream_gene_variant MELA-AU 2 152996786 152996786 single base substitution G A intron_variant MELA-AU 2 152997420 152997420 single base substitution G A downstream_gene_variant MELA-AU 2 152997420 152997420 single base substitution G A intron_variant MELA-AU 2 152997469 152997469 single base substitution T A downstream_gene_variant MELA-AU 2 152997469 152997469 single base substitution T A intron_variant MELA-AU 2 152997548 152997548 single base substitution G A downstream_gene_variant MELA-AU 2 152997548 152997548 single base substitution G A intron_variant MELA-AU 2 152997941 152997941 single base substitution G A downstream_gene_variant MELA-AU 2 152997941 152997941 single base substitution G A intron_variant MELA-AU 2 152998168 152998168 single base substitution G A downstream_gene_variant MELA-AU 2 152998168 152998168 single base substitution G A intron_variant MELA-AU 2 152998365 152998365 single base substitution A G downstream_gene_variant MELA-AU 2 152998365 152998365 single base substitution A G intron_variant MELA-AU 2 152998436 152998436 single base substitution G A downstream_gene_variant MELA-AU 2 152998436 152998436 single base substitution G A intron_variant MELA-AU 2 152998450 152998450 single base substitution G A downstream_gene_variant MELA-AU 2 152998450 152998450 single base substitution G A intron_variant MELA-AU 2 152998802 152998802 single base substitution T A downstream_gene_variant MELA-AU 2 152998802 152998802 single base substitution T A intron_variant MELA-AU 2 152999266 152999266 single base substitution G A downstream_gene_variant MELA-AU 2 152999266 152999266 single base substitution G A intron_variant MELA-AU 2 153000874 153000874 single base substitution C T intron_variant MELA-AU 2 153002768 153002768 single base substitution A G intron_variant MELA-AU 2 153003165 153003165 single base substitution A T intron_variant MELA-AU 2 153004328 153004328 single base substitution G A intron_variant MELA-AU 2 153004328 153004329 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 153006146 153006146 single base substitution G A intron_variant MELA-AU 2 153006204 153006204 single base substitution G A intron_variant MELA-AU 2 153006282 153006282 single base substitution G A intron_variant MELA-AU 2 153007198 153007198 single base substitution T A intron_variant MELA-AU 2 153007198 153007198 single base substitution T A upstream_gene_variant MELA-AU 2 153007226 153007226 single base substitution G A intron_variant MELA-AU 2 153007226 153007226 single base substitution G A upstream_gene_variant MELA-AU 2 153007535 153007535 single base substitution G A intron_variant MELA-AU 2 153007535 153007535 single base substitution G A upstream_gene_variant MELA-AU 2 153007990 153007990 single base substitution A G intron_variant MELA-AU 2 153007990 153007990 single base substitution A G upstream_gene_variant MELA-AU 2 153008002 153008002 single base substitution G A intron_variant MELA-AU 2 153008002 153008002 single base substitution G A upstream_gene_variant MELA-AU 2 153009208 153009208 single base substitution G A intron_variant MELA-AU 2 153009208 153009208 single base substitution G A upstream_gene_variant MELA-AU 2 153009492 153009492 deletion of <=200bp T - intron_variant MELA-AU 2 153009492 153009492 deletion of <=200bp T - upstream_gene_variant MELA-AU 2 153010349 153010349 deletion of <=200bp T - intron_variant MELA-AU 2 153010349 153010349 deletion of <=200bp T - upstream_gene_variant MELA-AU 2 153010659 153010659 single base substitution G A intron_variant MELA-AU 2 153010659 153010659 single base substitution G A upstream_gene_variant MELA-AU 2 153010920 153010920 single base substitution A C intron_variant MELA-AU 2 153010920 153010920 single base substitution A C upstream_gene_variant MELA-AU 2 153011518 153011518 single base substitution G A intron_variant MELA-AU 2 153011518 153011518 single base substitution G A upstream_gene_variant MELA-AU 2 153011635 153011635 single base substitution G A intron_variant MELA-AU 2 153011635 153011635 single base substitution G A upstream_gene_variant MELA-AU 2 153011696 153011696 single base substitution G A intron_variant MELA-AU 2 153011696 153011696 single base substitution G A upstream_gene_variant MELA-AU 2 153011999 153011999 single base substitution G A intron_variant MELA-AU 2 153012558 153012558 single base substitution A C intron_variant MELA-AU 2 153013031 153013031 single base substitution G A intron_variant MELA-AU 2 153013214 153013214 single base substitution C T intron_variant MELA-AU 2 153013933 153013933 single base substitution G A intron_variant MELA-AU 2 153014392 153014392 single base substitution A G intron_variant MELA-AU 2 153014887 153014887 single base substitution G A intron_variant MELA-AU 2 153015035 153015035 single base substitution T C intron_variant MELA-AU 2 153016297 153016297 single base substitution A G intron_variant MELA-AU 2 153016408 153016408 single base substitution G A intron_variant MELA-AU 2 153016505 153016505 single base substitution G A intron_variant MELA-AU 2 153016721 153016721 single base substitution G A intron_variant MELA-AU 2 153016749 153016749 single base substitution G A intron_variant MELA-AU 2 153017155 153017155 single base substitution G A intron_variant MELA-AU 2 153017410 153017410 single base substitution G A intron_variant MELA-AU 2 153017570 153017570 single base substitution G A intron_variant MELA-AU 2 153017583 153017583 single base substitution G A intron_variant MELA-AU 2 153017585 153017585 single base substitution G A intron_variant MELA-AU 2 153018923 153018923 single base substitution C T intron_variant MELA-AU 2 153019354 153019354 single base substitution A G intron_variant MELA-AU 2 153019361 153019361 single base substitution A G intron_variant MELA-AU 2 153019691 153019691 single base substitution G A intron_variant MELA-AU 2 153020188 153020188 single base substitution G A intron_variant MELA-AU 2 153020511 153020511 single base substitution G A intron_variant MELA-AU 2 153020593 153020593 single base substitution A G intron_variant MELA-AU 2 153020765 153020765 single base substitution G A intron_variant MELA-AU 2 153020953 153020953 single base substitution T C intron_variant MELA-AU 2 153021286 153021286 single base substitution G A intron_variant MELA-AU 2 153021325 153021325 single base substitution G A intron_variant MELA-AU 2 153021965 153021965 single base substitution G A intron_variant MELA-AU 2 153023083 153023083 single base substitution G A intron_variant MELA-AU 2 153023471 153023471 single base substitution A T intron_variant MELA-AU 2 153024175 153024175 single base substitution G A intron_variant MELA-AU 2 153024556 153024556 single base substitution G A intron_variant MELA-AU 2 153025444 153025444 single base substitution G A intron_variant MELA-AU 2 153026329 153026329 single base substitution A T intron_variant MELA-AU 2 153026689 153026689 single base substitution G A intron_variant MELA-AU 2 153027519 153027519 single base substitution G A intron_variant MELA-AU 2 153028762 153028762 single base substitution C T intron_variant MELA-AU 2 153029598 153029598 single base substitution G A intron_variant MELA-AU 2 153030169 153030169 single base substitution C T intron_variant MELA-AU 2 153031055 153031064 deletion of <=200bp AATAGGGCAC - intron_variant MELA-AU 2 153031150 153031150 single base substitution G A intron_variant MELA-AU 2 153031154 153031154 single base substitution C T intron_variant MELA-AU 2 153032269 153032269 single base substitution C T 5_prime_UTR_variant MELA-AU 2 153032269 153032269 single base substitution C T upstream_gene_variant MELA-AU 2 153032345 153032345 single base substitution C T 5_prime_UTR_variant MELA-AU 2 153032345 153032345 single base substitution C T upstream_gene_variant MELA-AU 2 153032530 153032530 single base substitution G A upstream_gene_variant MELA-AU 2 153032600 153032600 single base substitution C T upstream_gene_variant MELA-AU 2 153032891 153032891 single base substitution C T upstream_gene_variant MELA-AU 2 153032955 153032955 single base substitution C T upstream_gene_variant MELA-AU 2 153033599 153033599 single base substitution G A upstream_gene_variant MELA-AU 2 153033642 153033642 single base substitution G T upstream_gene_variant MELA-AU 2 153033725 153033725 single base substitution A T upstream_gene_variant MELA-AU 2 153033788 153033788 single base substitution C G upstream_gene_variant MELA-AU 2 153033810 153033810 single base substitution G A upstream_gene_variant MELA-AU 2 153034669 153034669 single base substitution G A upstream_gene_variant MELA-AU 2 153034679 153034679 single base substitution C T upstream_gene_variant MELA-AU 2 153034687 153034687 single base substitution C T upstream_gene_variant MELA-AU 2 153034697 153034697 single base substitution G A upstream_gene_variant MELA-AU 2 153034908 153034908 single base substitution G T upstream_gene_variant MELA-AU 2 153034922 153034922 single base substitution C T upstream_gene_variant MELA-AU 2 153034928 153034928 single base substitution G A upstream_gene_variant MELA-AU 2 153035319 153035319 single base substitution C T upstream_gene_variant MELA-AU 2 153035425 153035425 single base substitution G A upstream_gene_variant MELA-AU 2 153035490 153035490 single base substitution G A upstream_gene_variant MELA-AU 2 153035526 153035526 single base substitution G A upstream_gene_variant MELA-AU 2 153035759 153035759 single base substitution G A upstream_gene_variant MELA-AU 2 153035924 153035924 single base substitution G A upstream_gene_variant MELA-AU 2 153036011 153036011 single base substitution C T upstream_gene_variant MELA-AU 2 153036024 153036024 single base substitution C T upstream_gene_variant MELA-AU 2 153036068 153036068 single base substitution C T upstream_gene_variant MELA-AU 2 153036156 153036156 single base substitution C T upstream_gene_variant MELA-AU 2 153036322 153036322 single base substitution C T upstream_gene_variant MELA-AU 2 153036353 153036353 single base substitution C T upstream_gene_variant MELA-AU 2 153036436 153036436 single base substitution C T upstream_gene_variant MELA-AU 2 153036474 153036474 single base substitution G A upstream_gene_variant MELA-AU 2 153036518 153036518 single base substitution G A upstream_gene_variant MELA-AU 2 153036592 153036592 single base substitution C T upstream_gene_variant MELA-AU 2 153036823 153036823 single base substitution C T upstream_gene_variant MELA-AU 2 153036842 153036842 single base substitution C T upstream_gene_variant MELA-AU 2 153036890 153036890 single base substitution G T upstream_gene_variant MELA-AU 2 153037342 153037343 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 153037421 153037421 single base substitution G A upstream_gene_variant NBL-US 2 153000443 153000443 single base substitution T C downstream_gene_variant NBL-US 2 153000443 153000443 single base substitution T C exon_variant NBL-US 2 153000443 153000443 single base substitution T C missense_variant N201S 602A>G ORCA-IN 2 152974170 152974170 single base substitution C A 3_prime_UTR_variant ORCA-IN 2 152974170 152974170 single base substitution C A downstream_gene_variant ORCA-IN 2 152993399 152993399 single base substitution C A intron_variant ORCA-IN 2 152999262 152999262 single base substitution C G downstream_gene_variant ORCA-IN 2 152999262 152999262 single base substitution C G intron_variant ORCA-IN 2 153008359 153008359 single base substitution C T intron_variant ORCA-IN 2 153008359 153008359 single base substitution C T upstream_gene_variant OV-AU 2 152969848 152969848 single base substitution T C downstream_gene_variant OV-AU 2 152971953 152971953 single base substitution A T downstream_gene_variant OV-AU 2 152978002 152978002 single base substitution A C downstream_gene_variant OV-AU 2 152978002 152978002 single base substitution A C intron_variant OV-AU 2 152980055 152980055 single base substitution G C downstream_gene_variant OV-AU 2 152980055 152980055 single base substitution G C intron_variant OV-AU 2 152990522 152990522 single base substitution A C intron_variant OV-AU 2 152995069 152995069 single base substitution T G intron_variant OV-AU 2 152996055 152996055 single base substitution T A downstream_gene_variant OV-AU 2 152996055 152996055 single base substitution T A intron_variant OV-AU 2 153002712 153002712 single base substitution G A intron_variant OV-AU 2 153006161 153006161 single base substitution A C intron_variant OV-AU 2 153007997 153007997 single base substitution T A intron_variant OV-AU 2 153007997 153007997 single base substitution T A upstream_gene_variant OV-AU 2 153015558 153015558 single base substitution C T intron_variant OV-AU 2 153015626 153015626 single base substitution C T intron_variant OV-AU 2 153018048 153018048 single base substitution A T intron_variant OV-AU 2 153019506 153019506 single base substitution T A intron_variant OV-AU 2 153020374 153020374 single base substitution C T intron_variant OV-AU 2 153021773 153021773 single base substitution A G intron_variant OV-AU 2 153022212 153022212 single base substitution C A intron_variant OV-AU 2 153030594 153030594 single base substitution G A intron_variant OV-AU 2 153035935 153035935 single base substitution C G upstream_gene_variant OV-AU 2 153036173 153036173 single base substitution G A upstream_gene_variant OV-AU 2 153036586 153036586 single base substitution T A upstream_gene_variant PACA-AU 2 152973750 152973750 single base substitution C T 3_prime_UTR_variant PACA-AU 2 152973750 152973750 single base substitution C T downstream_gene_variant PACA-AU 2 152974341 152974341 single base substitution A G 3_prime_UTR_variant PACA-AU 2 152974341 152974341 single base substitution A G downstream_gene_variant PACA-AU 2 152975229 152975229 single base substitution T C 3_prime_UTR_variant PACA-AU 2 152975229 152975229 single base substitution T C downstream_gene_variant PACA-AU 2 152984535 152984535 single base substitution C T downstream_gene_variant PACA-AU 2 152984535 152984535 single base substitution C T intron_variant PACA-AU 2 152984535 152984535 single base substitution C T upstream_gene_variant PACA-AU 2 152990576 152990576 single base substitution A C intron_variant PACA-AU 2 153000176 153000176 single base substitution C T downstream_gene_variant PACA-AU 2 153000176 153000176 single base substitution C T intron_variant PACA-AU 2 153000572 153000576 deletion of <=200bp ATAAA - intron_variant PACA-AU 2 153008845 153008845 single base substitution C T intron_variant PACA-AU 2 153008845 153008845 single base substitution C T upstream_gene_variant PACA-AU 2 153015509 153015509 single base substitution A G intron_variant PACA-AU 2 153017118 153017118 single base substitution G A intron_variant PACA-AU 2 153018979 153018979 single base substitution A G intron_variant PACA-AU 2 153024867 153024867 single base substitution T A intron_variant PACA-AU 2 153026147 153026147 single base substitution G A intron_variant PACA-AU 2 153027136 153027136 single base substitution A C intron_variant PACA-AU 2 153036514 153036514 single base substitution C T upstream_gene_variant PACA-CA 2 152971928 152971928 single base substitution C G downstream_gene_variant PACA-CA 2 152974550 152974550 single base substitution G A 3_prime_UTR_variant PACA-CA 2 152974550 152974550 single base substitution G A downstream_gene_variant PACA-CA 2 152974974 152974974 single base substitution A G 3_prime_UTR_variant PACA-CA 2 152974974 152974974 single base substitution A G downstream_gene_variant PACA-CA 2 152975503 152975503 single base substitution G A 3_prime_UTR_variant PACA-CA 2 152975503 152975503 single base substitution G A downstream_gene_variant PACA-CA 2 152975719 152975719 single base substitution T G 3_prime_UTR_variant PACA-CA 2 152975719 152975719 single base substitution T G downstream_gene_variant PACA-CA 2 152976676 152976676 single base substitution C G 3_prime_UTR_variant PACA-CA 2 152976676 152976676 single base substitution C G downstream_gene_variant PACA-CA 2 152978573 152978573 single base substitution T A downstream_gene_variant PACA-CA 2 152978573 152978573 single base substitution T A intron_variant PACA-CA 2 152978590 152978590 single base substitution A G downstream_gene_variant PACA-CA 2 152978590 152978590 single base substitution A G intron_variant PACA-CA 2 152980917 152980917 single base substitution T C downstream_gene_variant PACA-CA 2 152980917 152980917 single base substitution T C exon_variant PACA-CA 2 152980917 152980917 single base substitution T C intron_variant PACA-CA 2 152983226 152983226 single base substitution A G intron_variant PACA-CA 2 152983226 152983226 single base substitution A G upstream_gene_variant PACA-CA 2 152987281 152987281 single base substitution G A downstream_gene_variant PACA-CA 2 152987281 152987281 single base substitution G A intron_variant PACA-CA 2 152987974 152987974 single base substitution A C downstream_gene_variant PACA-CA 2 152987974 152987974 single base substitution A C intron_variant PACA-CA 2 152991091 152991091 single base substitution C T intron_variant PACA-CA 2 152991733 152991733 single base substitution T A intron_variant PACA-CA 2 152993925 152993925 single base substitution T G intron_variant PACA-CA 2 152994015 152994015 single base substitution C G intron_variant PACA-CA 2 152996368 152996368 single base substitution T A downstream_gene_variant PACA-CA 2 152996368 152996368 single base substitution T A intron_variant PACA-CA 2 152999796 152999796 single base substitution A C downstream_gene_variant PACA-CA 2 152999796 152999796 single base substitution A C intron_variant PACA-CA 2 153000716 153000716 single base substitution T C intron_variant PACA-CA 2 153001347 153001347 single base substitution A G exon_variant PACA-CA 2 153001347 153001347 single base substitution A G intron_variant PACA-CA 2 153005842 153005842 deletion of <=200bp A - intron_variant PACA-CA 2 153007832 153007832 single base substitution A G intron_variant PACA-CA 2 153007832 153007832 single base substitution A G upstream_gene_variant PACA-CA 2 153008979 153008979 single base substitution C T intron_variant PACA-CA 2 153008979 153008979 single base substitution C T upstream_gene_variant PACA-CA 2 153009184 153009184 single base substitution G C intron_variant PACA-CA 2 153009184 153009184 single base substitution G C upstream_gene_variant PACA-CA 2 153009203 153009209 deletion of <=200bp ATATGGT - intron_variant PACA-CA 2 153009203 153009209 deletion of <=200bp ATATGGT - upstream_gene_variant PACA-CA 2 153009627 153009627 single base substitution G A intron_variant PACA-CA 2 153009627 153009627 single base substitution G A upstream_gene_variant PACA-CA 2 153020011 153020011 single base substitution T A intron_variant PACA-CA 2 153022546 153022546 single base substitution G C intron_variant PACA-CA 2 153022610 153022610 single base substitution C A intron_variant PACA-CA 2 153022970 153022970 single base substitution C G intron_variant PACA-CA 2 153023618 153023618 insertion of <=200bp - T intron_variant PACA-CA 2 153024273 153024273 single base substitution A G intron_variant PACA-CA 2 153029175 153029175 single base substitution G A intron_variant PACA-CA 2 153030500 153030500 single base substitution T C intron_variant PACA-CA 2 153030917 153030917 single base substitution T G intron_variant PACA-CA 2 153033890 153033890 single base substitution G A upstream_gene_variant PACA-CA 2 153036035 153036035 single base substitution T C upstream_gene_variant PACA-CA 2 153037043 153037043 single base substitution C T upstream_gene_variant PAEN-AU 2 152997482 152997482 single base substitution C A downstream_gene_variant PAEN-AU 2 152997482 152997482 single base substitution C A intron_variant PAEN-AU 2 153007151 153007151 single base substitution C T intron_variant PAEN-AU 2 153007151 153007151 single base substitution C T upstream_gene_variant PAEN-AU 2 153017077 153017077 single base substitution T G intron_variant PAEN-AU 2 153032476 153032476 single base substitution A C 5_prime_UTR_variant PAEN-AU 2 153032476 153032476 single base substitution A C upstream_gene_variant PAEN-AU 2 153035363 153035363 single base substitution G A upstream_gene_variant PBCA-DE 2 152971515 152971515 deletion of <=200bp A - downstream_gene_variant PBCA-DE 2 152971555 152971562 deletion of <=200bp GTAAAAAT - downstream_gene_variant PBCA-DE 2 152976686 152976686 insertion of <=200bp - GTC 3_prime_UTR_variant PBCA-DE 2 152976686 152976686 insertion of <=200bp - GTC downstream_gene_variant PBCA-DE 2 152998927 152998927 single base substitution C T downstream_gene_variant PBCA-DE 2 152998927 152998927 single base substitution C T intron_variant PBCA-DE 2 153015609 153015610 deletion of <=200bp AT - intron_variant PBCA-DE 2 153022113 153022113 single base substitution G A intron_variant PRAD-CA 2 152978590 152978590 single base substitution A G downstream_gene_variant PRAD-CA 2 152978590 152978590 single base substitution A G intron_variant PRAD-CA 2 152981403 152981403 single base substitution C A downstream_gene_variant PRAD-CA 2 152981403 152981403 single base substitution C A intron_variant PRAD-CA 2 152981403 152981403 single base substitution C A upstream_gene_variant PRAD-CA 2 152989167 152989167 single base substitution T C intron_variant PRAD-CA 2 153013551 153013551 single base substitution T A intron_variant PRAD-UK 2 153001930 153001930 single base substitution C T intron_variant PRAD-UK 2 153021310 153021310 single base substitution A G intron_variant PRAD-UK 2 153028291 153028291 single base substitution A G intron_variant READ-US 2 153006733 153006733 single base substitution C T exon_variant READ-US 2 153006733 153006733 single base substitution C T intron_variant READ-US 2 153006733 153006733 single base substitution C T synonymous_variant T17T 51G>A READ-US 2 153006733 153006733 single base substitution C T upstream_gene_variant RECA-EU 2 152971889 152971889 single base substitution G T downstream_gene_variant RECA-EU 2 152977919 152977919 single base substitution A G downstream_gene_variant RECA-EU 2 152977919 152977919 single base substitution A G intron_variant RECA-EU 2 152985696 152985696 single base substitution C T downstream_gene_variant RECA-EU 2 152985696 152985696 single base substitution C T intron_variant RECA-EU 2 152985696 152985696 single base substitution C T upstream_gene_variant RECA-EU 2 152999030 152999030 single base substitution A G downstream_gene_variant RECA-EU 2 152999030 152999030 single base substitution A G intron_variant RECA-EU 2 153002461 153002461 single base substitution C T intron_variant RECA-EU 2 153004771 153004771 single base substitution T A exon_variant RECA-EU 2 153004771 153004771 single base substitution T A stop_gained K57* 169A>T RECA-EU 2 153007129 153007129 single base substitution A G intron_variant RECA-EU 2 153007129 153007129 single base substitution A G upstream_gene_variant RECA-EU 2 153007726 153007726 single base substitution C T intron_variant RECA-EU 2 153007726 153007726 single base substitution C T upstream_gene_variant RECA-EU 2 153010297 153010297 single base substitution T A intron_variant RECA-EU 2 153010297 153010297 single base substitution T A upstream_gene_variant RECA-EU 2 153010390 153010390 single base substitution G A intron_variant RECA-EU 2 153010390 153010390 single base substitution G A upstream_gene_variant RECA-EU 2 153024116 153024116 single base substitution T A intron_variant SKCA-BR 2 152971695 152971695 insertion of <=200bp - CCAGA downstream_gene_variant SKCA-BR 2 152971973 152971973 single base substitution A T downstream_gene_variant SKCA-BR 2 152976125 152976125 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 152976125 152976125 single base substitution G A downstream_gene_variant SKCA-BR 2 152979613 152979613 single base substitution T G downstream_gene_variant SKCA-BR 2 152979613 152979613 single base substitution T G intron_variant SKCA-BR 2 152979869 152979869 single base substitution G A downstream_gene_variant SKCA-BR 2 152979869 152979869 single base substitution G A intron_variant SKCA-BR 2 152983749 152983749 single base substitution G T downstream_gene_variant SKCA-BR 2 152983749 152983749 single base substitution G T intron_variant SKCA-BR 2 152983749 152983749 single base substitution G T upstream_gene_variant SKCA-BR 2 152985021 152985021 single base substitution G A downstream_gene_variant SKCA-BR 2 152985021 152985021 single base substitution G A intron_variant SKCA-BR 2 152985021 152985021 single base substitution G A upstream_gene_variant SKCA-BR 2 152986874 152986874 single base substitution T C downstream_gene_variant SKCA-BR 2 152986874 152986874 single base substitution T C intron_variant SKCA-BR 2 152987152 152987152 single base substitution A C downstream_gene_variant SKCA-BR 2 152987152 152987152 single base substitution A C intron_variant SKCA-BR 2 152992620 152992620 single base substitution A C intron_variant SKCA-BR 2 152992994 152992994 single base substitution G A intron_variant SKCA-BR 2 152994321 152994321 single base substitution G A intron_variant SKCA-BR 2 152995481 152995481 single base substitution T C downstream_gene_variant SKCA-BR 2 152995481 152995481 single base substitution T C intron_variant SKCA-BR 2 152995975 152995975 single base substitution G A downstream_gene_variant SKCA-BR 2 152995975 152995975 single base substitution G A intron_variant SKCA-BR 2 153009864 153009864 single base substitution G A intron_variant SKCA-BR 2 153009864 153009864 single base substitution G A upstream_gene_variant SKCA-BR 2 153012691 153012691 single base substitution T A intron_variant SKCA-BR 2 153012926 153012926 single base substitution G A intron_variant SKCA-BR 2 153013304 153013304 single base substitution C A intron_variant SKCA-BR 2 153015147 153015147 single base substitution C T intron_variant SKCA-BR 2 153015531 153015531 single base substitution G A intron_variant SKCA-BR 2 153015845 153015845 single base substitution G A intron_variant SKCA-BR 2 153017113 153017113 single base substitution G A intron_variant SKCA-BR 2 153017380 153017380 single base substitution A G intron_variant SKCA-BR 2 153017384 153017384 single base substitution A G intron_variant SKCA-BR 2 153017387 153017387 single base substitution T G intron_variant SKCA-BR 2 153018008 153018009 deletion of <=200bp TA - intron_variant SKCA-BR 2 153020723 153020723 single base substitution G A intron_variant SKCA-BR 2 153025198 153025198 single base substitution A T intron_variant SKCA-BR 2 153026326 153026326 single base substitution G A intron_variant SKCA-BR 2 153026567 153026567 single base substitution T G intron_variant SKCA-BR 2 153026996 153026997 deletion of <=200bp CA - intron_variant SKCA-BR 2 153027001 153027001 single base substitution A T intron_variant SKCA-BR 2 153029875 153029875 insertion of <=200bp - CACATATATATACATATATATATATGTAT intron_variant SKCA-BR 2 153033944 153033944 single base substitution G A upstream_gene_variant SKCA-BR 2 153034026 153034026 single base substitution A T upstream_gene_variant SKCA-BR 2 153034342 153034342 single base substitution C T upstream_gene_variant SKCA-BR 2 153034343 153034343 single base substitution C T upstream_gene_variant SKCA-BR 2 153035231 153035231 single base substitution C T upstream_gene_variant SKCA-BR 2 153037274 153037274 single base substitution G A upstream_gene_variant SKCM-US 2 153000417 153000417 single base substitution A T downstream_gene_variant SKCM-US 2 153000417 153000417 single base substitution A T exon_variant SKCM-US 2 153000417 153000417 single base substitution A T missense_variant L210I 628T>A SKCM-US 2 153003815 153003815 single base substitution G A exon_variant SKCM-US 2 153003815 153003815 single base substitution G A missense_variant P103L 308C>T STAD-US 2 152980308 152980308 single base substitution C T downstream_gene_variant STAD-US 2 152980308 152980308 single base substitution C T exon_variant STAD-US 2 152980308 152980308 single base substitution C T missense_variant A441T 1321G>A STAD-US 2 152982811 152982811 single base substitution C G exon_variant STAD-US 2 152982811 152982811 single base substitution C G missense_variant V370L 1108G>C STAD-US 2 152982811 152982811 single base substitution C G upstream_gene_variant STAD-US 2 152992030 152992030 single base substitution A C exon_variant STAD-US 2 152992030 152992030 single base substitution A C synonymous_variant T264T 792T>G STAD-US 2 152992113 152992113 single base substitution C T exon_variant STAD-US 2 152992113 152992113 single base substitution C T missense_variant A237T 709G>A STAD-US 2 153001434 153001434 single base substitution T C exon_variant STAD-US 2 153001434 153001434 single base substitution T C intron_variant STAD-US 2 153001434 153001434 single base substitution T C missense_variant N162S 485A>G STAD-US 2 153004561 153004561 single base substitution C G exon_variant STAD-US 2 153004561 153004561 single base substitution C G missense_variant V93L 277G>C THCA-SA 2 152973623 152973623 single base substitution T C 3_prime_UTR_variant THCA-SA 2 152973623 152973623 single base substitution T C downstream_gene_variant THCA-SA 2 152976002 152976002 single base substitution G C 3_prime_UTR_variant THCA-SA 2 152976002 152976002 single base substitution G C downstream_gene_variant THCA-SA 2 152976736 152976736 single base substitution A G 3_prime_UTR_variant THCA-SA 2 152976736 152976736 single base substitution A G downstream_gene_variant THCA-SA 2 153032208 153032208 single base substitution T C 5_prime_UTR_variant THCA-SA 2 153032208 153032208 single base substitution T C exon_variant UCEC-US 2 152977232 152977232 single base substitution T C exon_variant UCEC-US 2 152977232 152977232 single base substitution T C synonymous_variant T478T 1434A>G UCEC-US 2 152980450 152980450 single base substitution C A downstream_gene_variant UCEC-US 2 152980450 152980450 single base substitution C A exon_variant UCEC-US 2 152980450 152980450 single base substitution C A splice_acceptor_variant UCEC-US 2 152982828 152982828 single base substitution A G exon_variant UCEC-US 2 152982828 152982828 single base substitution A G missense_variant L364S 1091T>C UCEC-US 2 152982828 152982828 single base substitution A G upstream_gene_variant UCEC-US 2 152982844 152982844 single base substitution C T exon_variant UCEC-US 2 152982844 152982844 single base substitution C T missense_variant E359K 1075G>A UCEC-US 2 152982844 152982844 single base substitution C T upstream_gene_variant UCEC-US 2 153003756 153003756 single base substitution C G exon_variant UCEC-US 2 153003756 153003756 single base substitution C G missense_variant D123H 367G>C UCEC-US 2 153004587 153004587 single base substitution A G exon_variant UCEC-US 2 153004587 153004587 single base substitution A G missense_variant V84A 251T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ccRCC-32 COSM1664370 c.853T>C p.S285P Substitution - Missense 2:152133431-152133431 - HCC168T COSM3708961 c.1171C>A p.P391T Substitution - Missense 2:152126234-152126234 - TCGA-02-2470 COSM2149070 c.301G>A p.A101T Substitution - Missense 2:152147308-152147308 - TCGA-G2-A2ES-01 COSM1305727 c.1184A>G p.Y395C Substitution - Missense 2:152123931-152123931 - B59-3-Tumor COSM1752053 c.780A>T p.L260F Substitution - Missense 2:152135528-152135528 - LUAD-NYU408 COSM374366 c.170A>G p.K57R Substitution - Missense 2:152148256-152148256 - HCC31 COSM1613521 c.187C>G p.L63V Substitution - Missense 2:152148239-152148239 - T3174 COSM4730391 c.785T>C p.I262T Substitution - Missense 2:152135523-152135523 - TCGA-F1-6177-01 COSM4085651 c.1321G>A p.A441T Substitution - Missense 2:152123794-152123794 - 453 COSM4435937 c.85A>C p.I29L Substitution - Missense 2:152150185-152150185 - TCGA-EI-6917-01 COSM170905 c.51G>A p.T17T Substitution - coding silent 2:152150219-152150219 - TCGA-BR-8284-01 COSM4085654 c.709G>A p.A237T Substitution - Missense 2:152135599-152135599 - C0046T COSM4154544 c.169A>T p.K57* Substitution - Nonsense 2:152148257-152148257 - TCGA-D1-A17U-01 COSM1007871 c.367G>C p.D123H Substitution - Missense 2:152147242-152147242 - 023T COSM1728049 c.73G>A p.D25N Substitution - Missense 2:152150197-152150197 - tumor_4163639 COSM1161317 c.1561C>T p.Q521* Substitution - Nonsense 2:152120591-152120591 - Patient1_Tu COSM570329 c.619G>A p.V207M Substitution - Missense 2:152143912-152143912 - TCGA-BH-A0HK-01 COSM441262 c.1095G>A p.V365V Substitution - coding silent 2:152126310-152126310 - TCGA-DK-A2I4-01 COSM3298878 c.415G>A p.E139K Substitution - Missense 2:152147194-152147194 - TCGA-BR-A4PF-01 COSM4085653 c.792T>G p.T264T Substitution - coding silent 2:152135516-152135516 - T3502 COSM4730390 c.801G>A p.A267A Substitution - coding silent 2:152133483-152133483 - P146 COSM1735986 c.126-3delT p.? Unknown 2:152148303-152148303 - TCGA-02-2470-01 COSM2149070 c.301G>A p.A101T Substitution - Missense 2:152147308-152147308 - TCGA-E9-A1RF-01 COSM1482044 c.1455G>A p.V485V Substitution - coding silent 2:152120697-152120697 - TCGA-BR-4362-01 COSM4085656 c.277G>C p.V93L Substitution - Missense 2:152148047-152148047 - RK126_C01 COSM1631341 c.211G>A p.A71T Substitution - Missense 2:152148113-152148113 - LC_S25 COSM1186025 c.229G>T p.G77* Substitution - Nonsense 2:152148095-152148095 - HCC2998 COSM1669302 c.523G>T p.E175* Substitution - Nonsense 2:152144008-152144008 - PT46 COSM5928358 c.877G>A p.D293N Substitution - Missense 2:152133407-152133407 - B111-Tumor COSM1752052 c.829G>A p.D277N Substitution - Missense 2:152133455-152133455 - HCC45 COSM3708962 c.33A>C p.Q11H Substitution - Missense 2:152175610-152175610 - TCGA-AN-A046-01 COSM3837059 c.1192C>A p.Q398K Substitution - Missense 2:152123923-152123923 - TCGA-13-1410-01 COSM72818 c.1001A>C p.D334A Substitution - Missense 2:152132138-152132138 - CRC-19T COSM5481655 c.254G>A p.C85Y Substitution - Missense 2:152148070-152148070 - TCGA-BR-4361-01 COSM4085652 c.1108G>C p.V370L Substitution - Missense 2:152126297-152126297 - 587222 COSM1227738 c.488A>C p.K163T Substitution - Missense 2:152144917-152144917 - Pat_53_B COSM5860306 c.482C>T p.S161L Substitution - Missense 2:152144923-152144923 - B111 COSM1752052 c.829G>A p.D277N Substitution - Missense 2:152133455-152133455 - I2L-P24Ta-Tumor-Organoid COSM5354453 c.1382A>G p.Y461C Substitution - Missense 2:152120770-152120770 - RK004_C01 COSM1631340 c.517+10C>T p.? Unknown 2:152144878-152144878 - TCGA-E9-A244-01 COSM1482045 c.528A>T p.L176F Substitution - Missense 2:152144003-152144003 - HCC31T COSM1613521 c.187C>G p.L63V Substitution - Missense 2:152148239-152148239 - GB19 COSM1744471 c.149T>C p.I50T Substitution - Missense 2:152148277-152148277 - 169 COSM3728847 c.126-4_126-3delTT p.? Unknown 2:152148303-152148304 - ZZUFHECRKL-G055T COSM5440413 c.952G>T p.D318Y Substitution - Missense 2:152133191-152133191 - I2L-P24Tb-Tumor-Organoid COSM5354453 c.1382A>G p.Y461C Substitution - Missense 2:152120770-152120770 - TCGA-AA-A010-01 COSM285406 c.332C>A p.S111Y Substitution - Missense 2:152147277-152147277 - TCGA-BH-A0DO-01 COSM441263 c.996G>A p.M332I Substitution - Missense 2:152132143-152132143 - TARGET-30-PAPVFD COSM1236643 c.602A>G p.N201S Substitution - Missense 2:152143929-152143929 - 457 COSM4436177 c.1340C>T p.S447L Substitution - Missense 2:152123775-152123775 - T3535 COSM4730392 c.201+2_201+3delTG p.? Unknown 2:152148222-152148223 - TCGA-CM-6162-01 COSM1400170 c.371C>A p.P124H Substitution - Missense 2:152147238-152147238 - DLD1 COSM4624431 c.1163C>A p.S388Y Substitution - Missense 2:152126242-152126242 - TCGA-AN-A046-01 COSM3837060 c.849G>T p.K283N Substitution - Missense 2:152133435-152133435 - 2334191 COSM323635 c.448-2A>C p.? Unknown 2:152144959-152144959 - ESOSCC159T COSM1172809 c.237A>G p.I79M Substitution - Missense 2:152148087-152148087 - CSCC-49-T COSM4544391 c.355G>A p.E119K Substitution - Missense 2:152147254-152147254 - pfg181T COSM4762845 c.260G>A p.R87H Substitution - Missense 2:152148064-152148064 - SC_9008 COSM1735986 c.126-3delT p.? Unknown 2:152148303-152148303 - HCC2998 COSM1669302 c.523G>T p.E175* Substitution - Nonsense 2:152144008-152144008 - TCGA-D7-8579-01 COSM4085655 c.485A>G p.N162S Substitution - Missense 2:152144920-152144920 - Pat_45_B COSM5860307 c.80G>A p.S27N Substitution - Missense 2:152150190-152150190 - SNUH_G15_S1 COSM3682433 c.704+4A>C p.? Unknown 2:152143823-152143823 - TCGA-AP-A059-01 COSM1007870 c.1075G>A p.E359K Substitution - Missense 2:152126330-152126330 - 225 COSM1735986 c.126-3delT p.? Unknown 2:152148303-152148303 - TCGA-37-3789-01 COSM716324 c.1375C>G p.P459A Substitution - Missense 2:152120777-152120777 - TCGA-A5-A0GH-01 COSM1007867 c.1434A>G p.T478T Substitution - coding silent 2:152120718-152120718 - I2L-P24Tb-Tumor-Biopsy COSM5354453 c.1382A>G p.Y461C Substitution - Missense 2:152120770-152120770 - TCGA-G2-A2EO-01 COSM1305729 c.41-1G>A p.? Unknown 2:152150230-152150230 - STC252 COSM5058158 c.1497A>G p.Q499Q Substitution - coding silent 2:152120655-152120655 - I2L-P24Ta-Tumor-Biopsy COSM5354453 c.1382A>G p.Y461C Substitution - Missense 2:152120770-152120770 - B59-3 COSM1752053 c.780A>T p.L260F Substitution - Missense 2:152135528-152135528 - HCC45T COSM3708962 c.33A>C p.Q11H Substitution - Missense 2:152175610-152175610 - HT115 COSM3298870 c.851A>C p.K284T Substitution - Missense 2:152133433-152133433 - TCGA-BS-A0UM-01 COSM1007872 c.251T>C p.V84A Substitution - Missense 2:152148073-152148073 - CSCC-56-T COSM4556991 c.70G>A p.E24K Substitution - Missense 2:152150200-152150200 - C086 COSM5539773 c.1072C>T p.L358L Substitution - coding silent 2:152126333-152126333 - ESCC_157 COSM5646352 c.1367T>A p.V456D Substitution - Missense 2:152120785-152120785 - TCGA-EE-A29M-06 COSM3567972 c.308C>T p.P103L Substitution - Missense 2:152147301-152147301 - HCC2998 COSM3298866 c.1058A>C p.K353T Substitution - Missense 2:152126347-152126347 - YUMEZ COSM5394570 c.477G>A p.T159T Substitution - coding silent 2:152144928-152144928 - RK190_C01 COSM3743912 c.951A>C p.Q317H Substitution - Missense 2:152133192-152133192 - 66 COSM5742886 c.59A>G p.Y20C Substitution - Missense 2:152150211-152150211 - TCGA-66-2727-01 COSM716325 c.1376C>A p.P459H Substitution - Missense 2:152120776-152120776 - HCC168 COSM3708961 c.1171C>A p.P391T Substitution - Missense 2:152126234-152126234 - TCGA-HT-7879-01 COSM3971641 c.438A>G p.A146A Substitution - coding silent 2:152147171-152147171 - TCGA-CM-4746-01 COSM1400169 c.613C>T p.R205W Substitution - Missense 2:152143918-152143918 - S00501 COSM1735986 c.126-3delT p.? Unknown 2:152148303-152148303 - NB2221T COSM1236643 c.602A>G p.N201S Substitution - Missense 2:152143929-152143929 - 2521252 COSM1735986 c.126-3delT p.? Unknown 2:152148303-152148303 - CRC-19T COSM5481654 c.1299A>G p.P433P Substitution - coding silent 2:152123816-152123816 - TCGA-DK-A1AC-01 COSM1305728 c.652G>C p.D218H Substitution - Missense 2:152143879-152143879 - TCGA-AP-A059-01 COSM1007869 c.1091T>C p.L364S Substitution - Missense 2:152126314-152126314 - TCGA-D3-A5GO-06 COSM3567971 c.628T>A p.L210I Substitution - Missense 2:152143903-152143903 - TCGA-B5-A0JY-01 COSM1007868 c.1180-1G>T p.? Unknown 2:152123936-152123936 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.17200 2q23.3 606244

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.1575+140T>C 2 152976951 CM A G IntronicSNV . c.971-62T>C 2 152988744 NSCLC A G Missense p.V84A c.251T>C 2 153004587 UCEC C G Missense p.D123H c.367G>C 2 153003756 UCEC C T Missense p.A101T c.301G>A 2 153003822 GBM C T Missense p.A441T c.1321G>A 2 152980308 STAD C T Missense p.A71T c.211G>A 2 153004627 HC C T Missense p.D270N c.808G>A 2 152989990 COREAD C T Missense p.E139K c.415G>A 2 153003708 BLCA C T Missense p.M332I c.996G>A 2 152988657 BRCA C T Missense p.V207M c.619G>A 2 153000426 LUAD C T SpliceAcceptorSNV . c.41-1G>A 2 153006744 BLCA C T Synonymous p.V365V c.1095G>A 2 152982824 BRCA C T Synonymous p.V485V c.1455G>A 2 152977211 BRCA G A Missense p.H81Y c.241C>T 2 153004597 CM G A Missense p.P103L c.308C>T 2 153003815 CM G A Missense p.R205W c.613C>T 2 153000432 HNSC G A Nonsense p.Q521* c.1561C>T 2 152977105 DLBCL G C Missense p.P459A c.1375C>G 2 152977291 LUSC G C Missense p.Q149E c.445C>G 2 153003678 THCA GG AA Missense p.P433L c.1297_1298delinsTT 2 152980331 CM G T Missense p.P459H c.1376C>A 2 152977290 LUSC G T Missense p.R87S c.259C>A 2 153004579 CM T A Missense p.L176F c.528A>T 2 153000517 BRCA T C IntronicSNV . c.1179+1131A>G 2 152981609 PIA T C Missense p.I292V c.874A>G 2 152989924 HNSC T C Missense p.N201S c.602A>G 2 153000443 NB T C Missense p.N465S c.1394A>G 2 152977272 COREAD T C Missense p.T455A c.1363A>G 2 152977303 LUAD T C Missense p.T474A c.1420A>G 2 152977246 BRCA T C Missense p.Y395C c.1184A>G 2 152980445 BLCA T C Synonymous p.T478T c.1434A>G 2 152977232 UCEC T G Missense p.D334A c.1001A>C 2 152988652 OV T G SpliceAcceptorSNV . c.448-2A>C 2 153001473 SCLC