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 6 110522829 110522829 + Silent SNP C C T TCGA-FD-A6TF-01A-52D-A32B-08 TCGA-FD-A6TF-10A-21D-A329-08 g.chr6:110522829C>T c.345C>T c.(343-345)gcC>gcT p.A115A BLCA 6 110531931 110531931 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr6:110531931G>A c.652G>A c.(652-654)Gaa>Aaa p.E218K BLCA 6 110551168 110551168 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr6:110551168C>T c.1574C>T c.(1573-1575)tCa>tTa p.S525L BRCA 6 110501679 110501679 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr6:110501679C>T c.32C>T c.(31-33)tCc>tTc p.S11F BRCA 6 110531945 110531945 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 g.chr6:110531945G>C c.666G>C c.(664-666)aaG>aaC p.K222N BRCA 6 110534290 110534290 + Splice_Site SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 g.chr6:110534290G>T c.869G>T c.(868-870)gGc>gTc p.G290V BRCA 6 110550072 110550072 + Silent SNP C C T TCGA-AR-A1AV-01A-21D-A12Q-09 TCGA-AR-A1AV-10A-01D-A12Q-09 g.chr6:110550072C>T c.1455C>T c.(1453-1455)atC>atT p.I485I CESC 6 110514391 110514391 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr6:110514391T>G c.196T>G c.(196-198)Ttg>Gtg p.L66V COAD 6 110522830 110522830 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:110522830G>A c.346G>A c.(346-348)Gaa>Aaa p.E116K COAD 6 110533447 110533447 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:110533447A>G c.839A>G c.(838-840)cAa>cGa p.Q280R COAD 6 110534291 110534291 + Silent SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr6:110534291C>T c.870C>T c.(868-870)ggC>ggT p.G290G COAD 6 110534292 110534292 + Missense_Mutation SNP G G A TCGA-AA-3529-01A-02W-0831-10 TCGA-AA-3529-10A-01W-0831-10 g.chr6:110534292G>A c.871G>A c.(871-873)Gtc>Atc p.V291I COAD 6 110534296 110534296 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr6:110534296G>A c.875G>A c.(874-876)aGt>aAt p.S292N COAD 6 110539001 110539001 + Missense_Mutation SNP A A C TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr6:110539001A>C c.1085A>C c.(1084-1086)gAg>gCg p.E362A COAD 6 110550122 110550122 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:110550122T>G c.1505T>G c.(1504-1506)tTt>tGt p.F502C COADREAD 6 110522830 110522830 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:110522830G>A c.346G>A c.(346-348)Gaa>Aaa p.E116K COADREAD 6 110533447 110533447 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:110533447A>G c.839A>G c.(838-840)cAa>cGa p.Q280R COADREAD 6 110533452 110533452 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr6:110533452C>A c.844C>A c.(844-846)Cat>Aat p.H282N COADREAD 6 110534291 110534291 + Silent SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr6:110534291C>T c.870C>T c.(868-870)ggC>ggT p.G290G COADREAD 6 110534292 110534292 + Missense_Mutation SNP G G A TCGA-AA-3529-01A-02W-0831-10 TCGA-AA-3529-10A-01W-0831-10 g.chr6:110534292G>A c.871G>A c.(871-873)Gtc>Atc p.V291I COADREAD 6 110534296 110534296 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr6:110534296G>A c.875G>A c.(874-876)aGt>aAt p.S292N COADREAD 6 110539001 110539001 + Missense_Mutation SNP A A C TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr6:110539001A>C c.1085A>C c.(1084-1086)gAg>gCg p.E362A COADREAD 6 110550122 110550122 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:110550122T>G c.1505T>G c.(1504-1506)tTt>tGt p.F502C ESCA 6 110501659 110501659 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr6:110501659G>T c.12G>T c.(10-12)gcG>gcT p.A4A ESCA 6 110501702 110501702 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr6:110501702G>C c.55G>C c.(55-57)Gaa>Caa p.E19Q ESCA 6 110528714 110528714 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 g.chr6:110528714G>A c.412G>A c.(412-414)Gca>Aca p.A138T ESCA 6 110530394 110530394 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr6:110530394G>T c.598G>T c.(598-600)Gtg>Ttg p.V200L ESCA 6 110534290 110534290 + Splice_Site SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr6:110534290G>T c.869G>T c.(868-870)gGc>gTc p.G290V ESCA 6 110541037 110541037 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 g.chr6:110541037C>T c.1305C>T c.(1303-1305)agC>agT p.S435S GBMLGG 6 110533393 110533393 + Missense_Mutation SNP G G T TCGA-HT-7476-01A-11D-2024-08 TCGA-HT-7476-10A-01D-2024-08 g.chr6:110533393G>T c.785G>T c.(784-786)gGt>gTt p.G262V GBMLGG 6 110533410 110533410 + Missense_Mutation SNP A A G TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 g.chr6:110533410A>G c.802A>G c.(802-804)Act>Gct p.T268A HNSC 6 110501792 110501793 + Frame_Shift_Del DEL TC TC - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 g.chr6:110501792_110501793delTC c.145_146delTC c.(145-147)tctfs p.S49fs HNSC 6 110514412 110514412 + Missense_Mutation SNP G G T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 g.chr6:110514412G>T c.217G>T c.(217-219)Gac>Tac p.D73Y HNSC 6 110530349 110530349 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 g.chr6:110530349G>T c.553G>T c.(553-555)Gat>Tat p.D185Y KICH 6 110528751 110528751 + Missense_Mutation SNP C C A TCGA-KN-8425-01A-11D-2310-10 TCGA-KN-8425-11A-01D-2310-10 g.chr6:110528751C>A c.449C>A c.(448-450)gCt>gAt p.A150D KIPAN 6 110501714 110501714 + Missense_Mutation SNP G G A TCGA-EU-5906-01A-11D-1669-08 TCGA-EU-5906-10A-01D-1669-08 g.chr6:110501714G>A c.67G>A c.(67-69)Gac>Aac p.D23N KIPAN 6 110528715 110528715 + Missense_Mutation SNP C C T TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr6:110528715C>T c.413C>T c.(412-414)gCa>gTa p.A138V KIPAN 6 110528751 110528751 + Missense_Mutation SNP C C A TCGA-KN-8425-01A-11D-2310-10 TCGA-KN-8425-11A-01D-2310-10 g.chr6:110528751C>A c.449C>A c.(448-450)gCt>gAt p.A150D KIRC 6 110501714 110501714 + Missense_Mutation SNP G G A TCGA-EU-5906-01A-11D-1669-08 TCGA-EU-5906-10A-01D-1669-08 g.chr6:110501714G>A c.67G>A c.(67-69)Gac>Aac p.D23N KIRP 6 110528715 110528715 + Missense_Mutation SNP C C T TCGA-EV-5903-01A-11D-1589-08 TCGA-EV-5903-10A-01D-1589-08 g.chr6:110528715C>T c.413C>T c.(412-414)gCa>gTa p.A138V LGG 6 110533393 110533393 + Missense_Mutation SNP G G T TCGA-HT-7476-01A-11D-2024-08 TCGA-HT-7476-10A-01D-2024-08 g.chr6:110533393G>T c.785G>T c.(784-786)gGt>gTt p.G262V LGG 6 110533410 110533410 + Missense_Mutation SNP A A G TCGA-CS-6188-01A-11D-1893-08 TCGA-CS-6188-10A-01D-1893-08 g.chr6:110533410A>G c.802A>G c.(802-804)Act>Gct p.T268A LIHC 6 110522886 110522886 + Silent SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr6:110522886A>G c.402A>G c.(400-402)acA>acG p.T134T LIHC 6 110540596 110540596 + Nonsense_Mutation SNP A A T TCGA-MI-A75G-01A-11D-A32G-10 TCGA-MI-A75G-10A-01D-A32G-10 g.chr6:110540596A>T c.1120A>T c.(1120-1122)Aaa>Taa p.K374* LIHC 6 110540651 110540651 + Missense_Mutation SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr6:110540651T>C c.1175T>C c.(1174-1176)gTg>gCg p.V392A LIHC 6 110540992 110540992 + Silent SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr6:110540992T>C c.1260T>C c.(1258-1260)gcT>gcC p.A420A LUAD 6 110501725 110501725 + Silent SNP C C T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 g.chr6:110501725C>T c.78C>T c.(76-78)agC>agT p.S26S LUAD 6 110522870 110522870 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr6:110522870G>T c.386G>T c.(385-387)aGg>aTg p.R129M LUAD 6 110533348 110533348 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr6:110533348A>G c.740A>G c.(739-741)tAt>tGt p.Y247C LUAD 6 110541042 110541042 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr6:110541042C>G c.1310C>G c.(1309-1311)tCt>tGt p.S437C LUAD 6 110551182 110551182 + Nonsense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr6:110551182G>T c.1588G>T c.(1588-1590)Gga>Tga p.G530* LUSC 6 110538960 110538960 + Silent SNP C C T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 g.chr6:110538960C>T c.1044C>T c.(1042-1044)ctC>ctT p.L348L LUSC 6 110540601 110540601 + Silent SNP A A T TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 g.chr6:110540601A>T c.1125A>T c.(1123-1125)gtA>gtT p.V375V LUSC 6 110540978 110540978 + Silent SNP C C A TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr6:110540978C>A c.1246C>A c.(1246-1248)Cgg>Agg p.R416R LUSC 6 110541048 110541048 + Missense_Mutation SNP A A T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr6:110541048A>T c.1316A>T c.(1315-1317)gAt>gTt p.D439V LUSC 6 110551303 110551303 + Missense_Mutation SNP G G T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr6:110551303G>T c.1709G>T c.(1708-1710)gGt>gTt p.G570V OV 6 110501769 110501769 + Missense_Mutation SNP C C A TCGA-36-2539-01A-01D-1526-09 TCGA-36-2539-10A-01D-1526-09 g.chr6:110501769C>A c.122C>A c.(121-123)aCt>aAt p.T41N PRAD 6 110547378 110547378 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 g.chr6:110547378C>T c.1349C>T c.(1348-1350)cCt>cTt p.P450L READ 6 110533452 110533452 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr6:110533452C>A c.844C>A c.(844-846)Cat>Aat p.H282N SARC 6 110514444 110514444 + Silent SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr6:110514444T>C c.249T>C c.(247-249)ccT>ccC p.P83P SKCM 6 110514406 110514406 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr6:110514406C>T c.211C>T c.(211-213)Cac>Tac p.H71Y SKCM 6 110514442 110514442 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr6:110514442C>T c.247C>T c.(247-249)Cct>Tct p.P83S SKCM 6 110530399 110530399 + Missense_Mutation SNP T T G TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chr6:110530399T>G c.603T>G c.(601-603)gaT>gaG p.D201E SKCM 6 110533353 110533353 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:110533353T>C c.745T>C c.(745-747)Tat>Cat p.Y249H SKCM 6 110536529 110536529 + Missense_Mutation SNP T T C TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr6:110536529T>C c.983T>C c.(982-984)tTt>tCt p.F328S SKCM 6 110550068 110550068 + Missense_Mutation SNP A A G TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr6:110550068A>G c.1451A>G c.(1450-1452)cAa>cGa p.Q484R SKCM 6 110551240 110551240 + Missense_Mutation SNP A A T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr6:110551240A>T c.1646A>T c.(1645-1647)cAt>cTt p.H549L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 6 110531931 110531931 single base substitution G A downstream_gene_variant BLCA-US 6 110531931 110531931 single base substitution G A exon_variant BLCA-US 6 110531931 110531931 single base substitution G A missense_variant E218K 652G>A BRCA-EU 6 110497217 110497217 single base substitution T A upstream_gene_variant BRCA-EU 6 110497254 110497254 single base substitution C T upstream_gene_variant BRCA-EU 6 110498568 110498568 single base substitution A T upstream_gene_variant BRCA-EU 6 110499230 110499230 single base substitution A T upstream_gene_variant BRCA-EU 6 110499893 110499893 single base substitution C T upstream_gene_variant BRCA-EU 6 110500590 110500590 single base substitution C G upstream_gene_variant BRCA-EU 6 110501090 110501090 single base substitution C T upstream_gene_variant BRCA-EU 6 110501226 110501226 single base substitution A C upstream_gene_variant BRCA-EU 6 110503363 110503363 single base substitution A T intron_variant BRCA-EU 6 110503559 110503559 single base substitution A G intron_variant BRCA-EU 6 110503625 110503625 single base substitution T A intron_variant BRCA-EU 6 110503992 110503992 single base substitution A G intron_variant BRCA-EU 6 110509556 110509556 single base substitution T C intron_variant BRCA-EU 6 110510143 110510143 single base substitution C G intron_variant BRCA-EU 6 110511359 110511359 deletion of <=200bp T - intron_variant BRCA-EU 6 110512177 110512177 single base substitution G A intron_variant BRCA-EU 6 110513185 110513185 single base substitution A T intron_variant BRCA-EU 6 110514030 110514030 single base substitution G A intron_variant BRCA-EU 6 110514647 110514647 single base substitution G A intron_variant BRCA-EU 6 110514830 110514830 single base substitution A T intron_variant BRCA-EU 6 110515945 110515945 single base substitution C T intron_variant BRCA-EU 6 110515945 110515945 single base substitution C T upstream_gene_variant BRCA-EU 6 110516258 110516258 single base substitution G C intron_variant BRCA-EU 6 110516258 110516258 single base substitution G C upstream_gene_variant BRCA-EU 6 110517464 110517464 single base substitution C G intron_variant BRCA-EU 6 110517464 110517464 single base substitution C G upstream_gene_variant BRCA-EU 6 110520856 110520856 single base substitution T C intron_variant BRCA-EU 6 110520856 110520856 single base substitution T C upstream_gene_variant BRCA-EU 6 110522765 110522765 single base substitution G C exon_variant BRCA-EU 6 110522765 110522765 single base substitution G C missense_variant G94A 281G>C BRCA-EU 6 110522765 110522765 single base substitution G C upstream_gene_variant BRCA-EU 6 110522934 110522934 single base substitution G A intron_variant BRCA-EU 6 110523950 110523950 single base substitution T A intron_variant BRCA-EU 6 110523954 110523954 single base substitution G C intron_variant BRCA-EU 6 110524617 110524617 single base substitution G A intron_variant BRCA-EU 6 110525333 110525333 single base substitution C T intron_variant BRCA-EU 6 110526032 110526032 single base substitution T G intron_variant BRCA-EU 6 110526657 110526657 single base substitution C G intron_variant BRCA-EU 6 110527047 110527047 deletion of <=200bp A - intron_variant BRCA-EU 6 110527876 110527876 single base substitution G A intron_variant BRCA-EU 6 110528087 110528087 single base substitution G C intron_variant BRCA-EU 6 110529051 110529051 single base substitution A G intron_variant BRCA-EU 6 110532414 110532414 single base substitution A G downstream_gene_variant BRCA-EU 6 110532414 110532414 single base substitution A G exon_variant BRCA-EU 6 110532414 110532414 single base substitution A G intron_variant BRCA-EU 6 110533129 110533129 single base substitution G A downstream_gene_variant BRCA-EU 6 110533129 110533129 single base substitution G A exon_variant BRCA-EU 6 110533129 110533129 single base substitution G A intron_variant BRCA-EU 6 110533720 110533720 single base substitution C G downstream_gene_variant BRCA-EU 6 110533720 110533720 single base substitution C G intron_variant BRCA-EU 6 110536925 110536925 single base substitution G A intron_variant BRCA-EU 6 110537080 110537080 single base substitution A C intron_variant BRCA-EU 6 110537507 110537507 single base substitution G A intron_variant BRCA-EU 6 110538211 110538211 single base substitution G A intron_variant BRCA-EU 6 110540395 110540395 deletion of <=200bp T - intron_variant BRCA-EU 6 110542338 110542338 deletion of <=200bp A - intron_variant BRCA-EU 6 110542338 110542338 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 110542794 110542794 single base substitution G C intron_variant BRCA-EU 6 110542794 110542794 single base substitution G C upstream_gene_variant BRCA-EU 6 110544373 110544373 single base substitution G C intron_variant BRCA-EU 6 110544373 110544373 single base substitution G C upstream_gene_variant BRCA-EU 6 110544531 110544531 single base substitution G C intron_variant BRCA-EU 6 110544531 110544531 single base substitution G C upstream_gene_variant BRCA-EU 6 110545619 110545619 single base substitution C G exon_variant BRCA-EU 6 110545619 110545619 single base substitution C G intron_variant BRCA-EU 6 110547030 110547030 single base substitution G A intron_variant BRCA-EU 6 110549009 110549038 deletion of <=200bp ATGCAAATACTATGCCATTTTATATAAGGG - intron_variant BRCA-EU 6 110550119 110550119 single base substitution T A exon_variant BRCA-EU 6 110550119 110550119 single base substitution T A intron_variant BRCA-EU 6 110550119 110550119 single base substitution T A missense_variant I501N 1502T>A BRCA-EU 6 110552874 110552874 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 110552874 110552874 single base substitution G C downstream_gene_variant BRCA-EU 6 110552874 110552874 single base substitution G C exon_variant BRCA-EU 6 110552874 110552874 single base substitution G C intron_variant BRCA-EU 6 110553483 110553483 single base substitution G A downstream_gene_variant BRCA-EU 6 110553483 110553483 single base substitution G A intron_variant BRCA-EU 6 110554322 110554322 single base substitution G A downstream_gene_variant BRCA-EU 6 110554322 110554322 single base substitution G A intron_variant BRCA-EU 6 110554324 110554324 single base substitution G A downstream_gene_variant BRCA-EU 6 110554324 110554324 single base substitution G A intron_variant BRCA-EU 6 110556367 110556367 single base substitution C T downstream_gene_variant BRCA-EU 6 110556367 110556367 single base substitution C T intron_variant BRCA-EU 6 110556711 110556711 single base substitution T C downstream_gene_variant BRCA-EU 6 110556711 110556711 single base substitution T C intron_variant BRCA-EU 6 110557881 110557881 single base substitution C A downstream_gene_variant BRCA-EU 6 110557881 110557881 single base substitution C A intron_variant BRCA-EU 6 110558017 110558017 single base substitution C G downstream_gene_variant BRCA-EU 6 110558017 110558017 single base substitution C G intron_variant BRCA-EU 6 110558132 110558132 single base substitution G A downstream_gene_variant BRCA-EU 6 110558132 110558132 single base substitution G A intron_variant BRCA-EU 6 110561842 110561842 single base substitution T C intron_variant BRCA-EU 6 110562103 110562103 single base substitution T G intron_variant BRCA-EU 6 110563701 110563701 single base substitution G A intron_variant BRCA-EU 6 110566737 110566737 single base substitution G T intron_variant BRCA-EU 6 110569274 110569274 deletion of <=200bp C - intron_variant BRCA-EU 6 110571456 110571456 single base substitution A T intron_variant BRCA-EU 6 110571714 110571714 single base substitution A C intron_variant BRCA-EU 6 110571746 110571746 single base substitution T C intron_variant BRCA-EU 6 110572095 110572095 single base substitution C T intron_variant BRCA-EU 6 110573304 110573304 single base substitution G A intron_variant BRCA-EU 6 110574376 110574376 single base substitution A G intron_variant BRCA-EU 6 110574784 110574784 single base substitution A T intron_variant BRCA-EU 6 110575178 110575178 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 110575270 110575270 single base substitution A G 3_prime_UTR_variant BRCA-EU 6 110575687 110575687 single base substitution T C downstream_gene_variant BRCA-EU 6 110576250 110576250 single base substitution C T downstream_gene_variant BRCA-EU 6 110576486 110576486 single base substitution T A downstream_gene_variant BRCA-EU 6 110577131 110577131 insertion of <=200bp - A downstream_gene_variant BRCA-EU 6 110577221 110577221 single base substitution A C downstream_gene_variant BRCA-EU 6 110577778 110577778 single base substitution C G downstream_gene_variant BRCA-EU 6 110580374 110580374 single base substitution C T downstream_gene_variant BRCA-FR 6 110499893 110499893 single base substitution C T upstream_gene_variant BRCA-FR 6 110501090 110501090 single base substitution C T upstream_gene_variant BRCA-FR 6 110503363 110503363 single base substitution A T intron_variant BRCA-FR 6 110508379 110508379 single base substitution C T intron_variant BRCA-FR 6 110510143 110510143 single base substitution C G intron_variant BRCA-FR 6 110514351 110514351 single base substitution C T intron_variant BRCA-FR 6 110529647 110529647 single base substitution C T intron_variant BRCA-FR 6 110530252 110530252 single base substitution C T intron_variant BRCA-FR 6 110537507 110537507 single base substitution G A intron_variant BRCA-FR 6 110542794 110542794 single base substitution G C intron_variant BRCA-FR 6 110542794 110542794 single base substitution G C upstream_gene_variant BRCA-FR 6 110545619 110545619 single base substitution C G exon_variant BRCA-FR 6 110545619 110545619 single base substitution C G intron_variant BRCA-FR 6 110551096 110551096 single base substitution C T intron_variant BRCA-FR 6 110551584 110551584 single base substitution T C 3_prime_UTR_variant BRCA-FR 6 110551584 110551584 single base substitution T C downstream_gene_variant BRCA-FR 6 110551584 110551584 single base substitution T C intron_variant BRCA-FR 6 110552874 110552874 single base substitution G C 3_prime_UTR_variant BRCA-FR 6 110552874 110552874 single base substitution G C downstream_gene_variant BRCA-FR 6 110552874 110552874 single base substitution G C exon_variant BRCA-FR 6 110552874 110552874 single base substitution G C intron_variant BRCA-FR 6 110553144 110553144 single base substitution G A 3_prime_UTR_variant BRCA-FR 6 110553144 110553144 single base substitution G A downstream_gene_variant BRCA-FR 6 110553144 110553144 single base substitution G A intron_variant BRCA-FR 6 110553483 110553483 single base substitution G A downstream_gene_variant BRCA-FR 6 110553483 110553483 single base substitution G A intron_variant BRCA-FR 6 110572095 110572095 single base substitution C T intron_variant BRCA-FR 6 110576504 110576504 single base substitution G C downstream_gene_variant BRCA-FR 6 110580374 110580374 single base substitution C T downstream_gene_variant BRCA-UK 6 110502346 110502346 single base substitution G C intron_variant BRCA-UK 6 110534892 110534892 single base substitution G C downstream_gene_variant BRCA-UK 6 110534892 110534892 single base substitution G C intron_variant BRCA-UK 6 110536057 110536057 single base substitution A G intron_variant BRCA-UK 6 110551171 110551171 single base substitution G T exon_variant BRCA-UK 6 110551171 110551171 single base substitution G T intron_variant BRCA-UK 6 110551171 110551171 single base substitution G T missense_variant G526V 1577G>T BRCA-US 6 110501679 110501679 single base substitution C T exon_variant BRCA-US 6 110501679 110501679 single base substitution C T missense_variant S11F 32C>T BRCA-US 6 110531945 110531945 single base substitution G C downstream_gene_variant BRCA-US 6 110531945 110531945 single base substitution G C exon_variant BRCA-US 6 110531945 110531945 single base substitution G C missense_variant K222N 666G>C BRCA-US 6 110534290 110534290 single base substitution G T downstream_gene_variant BRCA-US 6 110534290 110534290 single base substitution G T missense_variant G290V 869G>T BRCA-US 6 110534290 110534290 single base substitution G T splice_region_variant BRCA-US 6 110550072 110550072 single base substitution C T exon_variant BRCA-US 6 110550072 110550072 single base substitution C T intron_variant BRCA-US 6 110550072 110550072 single base substitution C T synonymous_variant I485I 1455C>T CESC-US 6 110514391 110514391 single base substitution T G exon_variant CESC-US 6 110514391 110514391 single base substitution T G missense_variant L66V 196T>G CLLE-ES 6 110521788 110521792 deletion of <=200bp ATAAT - intron_variant CLLE-ES 6 110521788 110521792 deletion of <=200bp ATAAT - upstream_gene_variant CLLE-ES 6 110538383 110538383 single base substitution G A intron_variant CLLE-ES 6 110549432 110549432 single base substitution C T intron_variant CLLE-ES 6 110559944 110559944 single base substitution T C intron_variant CLLE-ES 6 110576080 110576080 single base substitution C T downstream_gene_variant CLLE-ES 6 110577130 110577130 single base substitution G A downstream_gene_variant COAD-US 6 110522830 110522830 single base substitution G A exon_variant COAD-US 6 110522830 110522830 single base substitution G A missense_variant E116K 346G>A COAD-US 6 110531951 110531951 insertion of <=200bp - A downstream_gene_variant COAD-US 6 110531951 110531951 insertion of <=200bp - A exon_variant COAD-US 6 110531951 110531951 insertion of <=200bp - A frameshift_variant Q224Q? COAD-US 6 110533447 110533447 single base substitution A G downstream_gene_variant COAD-US 6 110533447 110533447 single base substitution A G exon_variant COAD-US 6 110533447 110533447 single base substitution A G missense_variant Q280R 839A>G COAD-US 6 110534291 110534291 single base substitution C T downstream_gene_variant COAD-US 6 110534291 110534291 single base substitution C T splice_region_variant COAD-US 6 110534296 110534296 single base substitution G A downstream_gene_variant COAD-US 6 110534296 110534296 single base substitution G A exon_variant COAD-US 6 110534296 110534296 single base substitution G A missense_variant S292N 875G>A COAD-US 6 110536498 110536498 single base substitution G T exon_variant COAD-US 6 110536498 110536498 single base substitution G T missense_variant V318F 952G>T COAD-US 6 110567276 110567276 single base substitution T C intron_variant COCA-CN 6 110521393 110521393 single base substitution G T intron_variant COCA-CN 6 110521393 110521393 single base substitution G T upstream_gene_variant COCA-CN 6 110522737 110522737 single base substitution A T intron_variant COCA-CN 6 110522737 110522737 single base substitution A T upstream_gene_variant COCA-CN 6 110530277 110530277 single base substitution G T intron_variant COCA-CN 6 110530282 110530282 single base substitution C T intron_variant COCA-CN 6 110530282 110530282 single base substitution C T splice_region_variant COCA-CN 6 110533470 110533470 single base substitution A C downstream_gene_variant COCA-CN 6 110533470 110533470 single base substitution A C exon_variant COCA-CN 6 110533470 110533470 single base substitution A C missense_variant T288P 862A>C COCA-CN 6 110536454 110536454 single base substitution T A intron_variant COCA-CN 6 110539889 110539889 single base substitution A G intron_variant COCA-CN 6 110539958 110539958 single base substitution A G intron_variant COCA-CN 6 110540809 110540809 single base substitution C A intron_variant COCA-CN 6 110540809 110540809 single base substitution C A upstream_gene_variant COCA-CN 6 110540873 110540873 single base substitution A G intron_variant COCA-CN 6 110540873 110540873 single base substitution A G upstream_gene_variant COCA-CN 6 110540949 110540949 single base substitution G A exon_variant COCA-CN 6 110540949 110540949 single base substitution G A missense_variant R406Q 1217G>A COCA-CN 6 110540949 110540949 single base substitution G A upstream_gene_variant COCA-CN 6 110555467 110555467 single base substitution G A downstream_gene_variant COCA-CN 6 110555467 110555467 single base substitution G A intron_variant COCA-CN 6 110577740 110577740 single base substitution A G downstream_gene_variant EOPC-DE 6 110537903 110537903 single base substitution C T intron_variant ESAD-UK 6 110496667 110496667 single base substitution C T upstream_gene_variant ESAD-UK 6 110497013 110497013 single base substitution C A upstream_gene_variant ESAD-UK 6 110497063 110497063 single base substitution T C upstream_gene_variant ESAD-UK 6 110501078 110501078 single base substitution G A upstream_gene_variant ESAD-UK 6 110501272 110501272 single base substitution A G upstream_gene_variant ESAD-UK 6 110505510 110505510 single base substitution T C intron_variant ESAD-UK 6 110508186 110508186 single base substitution A T intron_variant ESAD-UK 6 110509876 110509876 single base substitution C T intron_variant ESAD-UK 6 110510223 110510223 single base substitution C T intron_variant ESAD-UK 6 110511109 110511109 single base substitution T G intron_variant ESAD-UK 6 110511652 110511652 single base substitution G A intron_variant ESAD-UK 6 110513241 110513241 single base substitution C T intron_variant ESAD-UK 6 110520928 110520928 single base substitution C T intron_variant ESAD-UK 6 110520928 110520928 single base substitution C T upstream_gene_variant ESAD-UK 6 110521325 110521325 single base substitution T C intron_variant ESAD-UK 6 110521325 110521325 single base substitution T C upstream_gene_variant ESAD-UK 6 110521727 110521727 insertion of <=200bp - A intron_variant ESAD-UK 6 110521727 110521727 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 110522346 110522346 single base substitution A T intron_variant ESAD-UK 6 110522346 110522346 single base substitution A T upstream_gene_variant ESAD-UK 6 110522390 110522390 single base substitution C G intron_variant ESAD-UK 6 110522390 110522390 single base substitution C G upstream_gene_variant ESAD-UK 6 110523331 110523331 single base substitution A G intron_variant ESAD-UK 6 110523537 110523537 single base substitution C A intron_variant ESAD-UK 6 110524888 110524888 single base substitution G C intron_variant ESAD-UK 6 110526899 110526899 single base substitution C G intron_variant ESAD-UK 6 110530267 110530267 single base substitution T A intron_variant ESAD-UK 6 110532573 110532573 single base substitution T C downstream_gene_variant ESAD-UK 6 110532573 110532573 single base substitution T C exon_variant ESAD-UK 6 110532573 110532573 single base substitution T C intron_variant ESAD-UK 6 110534599 110534599 single base substitution T G downstream_gene_variant ESAD-UK 6 110534599 110534599 single base substitution T G intron_variant ESAD-UK 6 110538381 110538381 single base substitution A G intron_variant ESAD-UK 6 110540979 110540979 single base substitution G A exon_variant ESAD-UK 6 110540979 110540979 single base substitution G A missense_variant R416Q 1247G>A ESAD-UK 6 110540979 110540979 single base substitution G A upstream_gene_variant ESAD-UK 6 110543618 110543618 single base substitution G A intron_variant ESAD-UK 6 110543618 110543618 single base substitution G A upstream_gene_variant ESAD-UK 6 110543685 110543685 single base substitution G A intron_variant ESAD-UK 6 110543685 110543685 single base substitution G A upstream_gene_variant ESAD-UK 6 110554434 110554434 single base substitution G T downstream_gene_variant ESAD-UK 6 110554434 110554434 single base substitution G T intron_variant ESAD-UK 6 110556862 110556862 single base substitution A G downstream_gene_variant ESAD-UK 6 110556862 110556862 single base substitution A G intron_variant ESAD-UK 6 110557580 110557580 single base substitution T G downstream_gene_variant ESAD-UK 6 110557580 110557580 single base substitution T G intron_variant ESAD-UK 6 110558987 110558987 insertion of <=200bp - T intron_variant ESAD-UK 6 110560642 110560642 single base substitution G T intron_variant ESAD-UK 6 110561531 110561531 single base substitution C T intron_variant ESAD-UK 6 110562131 110562131 single base substitution C T intron_variant ESAD-UK 6 110562404 110562404 deletion of <=200bp A - intron_variant ESAD-UK 6 110564477 110564477 single base substitution C T intron_variant ESAD-UK 6 110565411 110565411 single base substitution T A intron_variant ESAD-UK 6 110565815 110565815 single base substitution T G intron_variant ESAD-UK 6 110567458 110567458 single base substitution G A intron_variant ESAD-UK 6 110567823 110567823 single base substitution T A intron_variant ESAD-UK 6 110570668 110570668 single base substitution G A intron_variant ESAD-UK 6 110572271 110572271 single base substitution C T intron_variant ESAD-UK 6 110572876 110572876 single base substitution T C intron_variant ESAD-UK 6 110573441 110573441 single base substitution G A intron_variant ESAD-UK 6 110577454 110577454 single base substitution T C downstream_gene_variant ESAD-UK 6 110578727 110578727 single base substitution A G downstream_gene_variant ESAD-UK 6 110578757 110578757 single base substitution C T downstream_gene_variant ESAD-UK 6 110578819 110578819 single base substitution A C downstream_gene_variant ESAD-UK 6 110578867 110578867 single base substitution A C downstream_gene_variant ESAD-UK 6 110578883 110578883 single base substitution G A downstream_gene_variant ESCA-CN 6 110540955 110540955 single base substitution G A exon_variant ESCA-CN 6 110540955 110540955 single base substitution G A missense_variant G408E 1223G>A ESCA-CN 6 110540955 110540955 single base substitution G A upstream_gene_variant ESCA-CN 6 110551254 110551254 single base substitution A G exon_variant ESCA-CN 6 110551254 110551254 single base substitution A G intron_variant ESCA-CN 6 110551254 110551254 single base substitution A G missense_variant I554V 1660A>G ESCA-CN 6 110551278 110551278 single base substitution G C exon_variant ESCA-CN 6 110551278 110551278 single base substitution G C intron_variant ESCA-CN 6 110551278 110551278 single base substitution G C missense_variant E562Q 1684G>C ESCA-CN 6 110567380 110567380 single base substitution A G intron_variant GBM-US 6 110567207 110567207 single base substitution T G intron_variant KIRC-US 6 110501714 110501714 single base substitution G A exon_variant KIRC-US 6 110501714 110501714 single base substitution G A missense_variant D23N 67G>A KIRP-US 6 110528715 110528715 single base substitution C T exon_variant KIRP-US 6 110528715 110528715 single base substitution C T missense_variant A138V 413C>T LAML-KR 6 110525884 110525884 single base substitution G T intron_variant LGG-US 6 110533410 110533410 single base substitution A G downstream_gene_variant LGG-US 6 110533410 110533410 single base substitution A G exon_variant LGG-US 6 110533410 110533410 single base substitution A G missense_variant T268A 802A>G LICA-FR 6 110497597 110497597 single base substitution T A upstream_gene_variant LICA-FR 6 110501203 110501203 single base substitution C A upstream_gene_variant LICA-FR 6 110514945 110514945 single base substitution T C intron_variant LICA-FR 6 110520380 110520380 single base substitution G A intron_variant LICA-FR 6 110520380 110520380 single base substitution G A upstream_gene_variant LICA-FR 6 110530311 110530311 single base substitution A G exon_variant LICA-FR 6 110530311 110530311 single base substitution A G missense_variant Q172R 515A>G LICA-FR 6 110545009 110545009 single base substitution T G intron_variant LICA-FR 6 110545009 110545009 single base substitution T G upstream_gene_variant LIHC-US 6 110522886 110522886 single base substitution A G exon_variant LIHC-US 6 110522886 110522886 single base substitution A G synonymous_variant T134T 402A>G LIHC-US 6 110540596 110540596 single base substitution A T exon_variant LIHC-US 6 110540596 110540596 single base substitution A T stop_gained K374* 1120A>T LIHC-US 6 110540596 110540596 single base substitution A T upstream_gene_variant LIHC-US 6 110551184 110551184 single base substitution A G exon_variant LIHC-US 6 110551184 110551184 single base substitution A G intron_variant LIHC-US 6 110551184 110551184 single base substitution A G synonymous_variant G530G 1590A>G LINC-JP 6 110497271 110497271 single base substitution T C upstream_gene_variant LINC-JP 6 110499430 110499430 single base substitution C G upstream_gene_variant LINC-JP 6 110508752 110508752 single base substitution A G intron_variant LINC-JP 6 110509176 110509176 single base substitution A G intron_variant LINC-JP 6 110528809 110528809 single base substitution A G intron_variant LINC-JP 6 110533174 110533174 single base substitution T G downstream_gene_variant LINC-JP 6 110533174 110533174 single base substitution T G exon_variant LINC-JP 6 110533174 110533174 single base substitution T G intron_variant LINC-JP 6 110533401 110533401 single base substitution C G downstream_gene_variant LINC-JP 6 110533401 110533401 single base substitution C G exon_variant LINC-JP 6 110533401 110533401 single base substitution C G missense_variant L265V 793C>G LINC-JP 6 110534106 110534106 single base substitution C A downstream_gene_variant LINC-JP 6 110534106 110534106 single base substitution C A intron_variant LINC-JP 6 110536569 110536569 single base substitution A G intron_variant LINC-JP 6 110537483 110537483 single base substitution T G intron_variant LINC-JP 6 110538162 110538162 single base substitution T C intron_variant LINC-JP 6 110540892 110540892 single base substitution A T intron_variant LINC-JP 6 110540892 110540892 single base substitution A T upstream_gene_variant LINC-JP 6 110545597 110545597 single base substitution A T exon_variant LINC-JP 6 110545597 110545597 single base substitution A T intron_variant LINC-JP 6 110562780 110562780 single base substitution C T intron_variant LIRI-JP 6 110497230 110497230 single base substitution T C upstream_gene_variant LIRI-JP 6 110497964 110497964 single base substitution T C upstream_gene_variant LIRI-JP 6 110499267 110499267 single base substitution T C upstream_gene_variant LIRI-JP 6 110501486 110501486 single base substitution G A intron_variant LIRI-JP 6 110501486 110501486 single base substitution G A upstream_gene_variant LIRI-JP 6 110502195 110502195 single base substitution T A intron_variant LIRI-JP 6 110503014 110503014 single base substitution G T intron_variant LIRI-JP 6 110507642 110507642 single base substitution A C intron_variant LIRI-JP 6 110508951 110508951 single base substitution C T intron_variant LIRI-JP 6 110510492 110510492 single base substitution A G intron_variant LIRI-JP 6 110513625 110513625 single base substitution A G intron_variant LIRI-JP 6 110517927 110517927 single base substitution A G intron_variant LIRI-JP 6 110517927 110517927 single base substitution A G upstream_gene_variant LIRI-JP 6 110518249 110518249 single base substitution T C intron_variant LIRI-JP 6 110518249 110518249 single base substitution T C upstream_gene_variant LIRI-JP 6 110519040 110519040 single base substitution A G intron_variant LIRI-JP 6 110519040 110519040 single base substitution A G upstream_gene_variant LIRI-JP 6 110521403 110521403 single base substitution A G intron_variant LIRI-JP 6 110521403 110521403 single base substitution A G upstream_gene_variant LIRI-JP 6 110526777 110526777 single base substitution T A intron_variant LIRI-JP 6 110527444 110527444 single base substitution C T intron_variant LIRI-JP 6 110528162 110528162 single base substitution T G intron_variant LIRI-JP 6 110528985 110528985 single base substitution C G intron_variant LIRI-JP 6 110529046 110529046 single base substitution T G intron_variant LIRI-JP 6 110529047 110529047 single base substitution T C intron_variant LIRI-JP 6 110529060 110529060 single base substitution A C intron_variant LIRI-JP 6 110529081 110529081 deletion of <=200bp A - intron_variant LIRI-JP 6 110530149 110530149 single base substitution A G intron_variant LIRI-JP 6 110531211 110531211 single base substitution C T downstream_gene_variant LIRI-JP 6 110531211 110531211 single base substitution C T intron_variant LIRI-JP 6 110531518 110531518 single base substitution C A downstream_gene_variant LIRI-JP 6 110531518 110531518 single base substitution C A intron_variant LIRI-JP 6 110531858 110531858 single base substitution A G downstream_gene_variant LIRI-JP 6 110531858 110531858 single base substitution A G intron_variant LIRI-JP 6 110536575 110536575 single base substitution T G intron_variant LIRI-JP 6 110537506 110537506 single base substitution C T intron_variant LIRI-JP 6 110539028 110539028 single base substitution T A intron_variant LIRI-JP 6 110539182 110539182 single base substitution C G intron_variant LIRI-JP 6 110542180 110542180 single base substitution A G intron_variant LIRI-JP 6 110542180 110542180 single base substitution A G upstream_gene_variant LIRI-JP 6 110542948 110542948 single base substitution T C intron_variant LIRI-JP 6 110542948 110542948 single base substitution T C upstream_gene_variant LIRI-JP 6 110543932 110543932 single base substitution C T intron_variant LIRI-JP 6 110543932 110543932 single base substitution C T upstream_gene_variant LIRI-JP 6 110545589 110545589 single base substitution A G exon_variant LIRI-JP 6 110545589 110545589 single base substitution A G intron_variant LIRI-JP 6 110549592 110549592 single base substitution A G intron_variant LIRI-JP 6 110549595 110549595 single base substitution G T intron_variant LIRI-JP 6 110550453 110550453 single base substitution G A intron_variant LIRI-JP 6 110552808 110552808 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 110552808 110552808 single base substitution A G downstream_gene_variant LIRI-JP 6 110552808 110552808 single base substitution A G exon_variant LIRI-JP 6 110552808 110552808 single base substitution A G intron_variant LIRI-JP 6 110555001 110555001 single base substitution A G downstream_gene_variant LIRI-JP 6 110555001 110555001 single base substitution A G intron_variant LIRI-JP 6 110555418 110555418 single base substitution A G downstream_gene_variant LIRI-JP 6 110555418 110555418 single base substitution A G intron_variant LIRI-JP 6 110555557 110555557 single base substitution A G downstream_gene_variant LIRI-JP 6 110555557 110555557 single base substitution A G intron_variant LIRI-JP 6 110556251 110556251 single base substitution A G downstream_gene_variant LIRI-JP 6 110556251 110556251 single base substitution A G intron_variant LIRI-JP 6 110558627 110558627 single base substitution G A intron_variant LIRI-JP 6 110559473 110559473 single base substitution A C intron_variant LIRI-JP 6 110561142 110561142 single base substitution G T intron_variant LIRI-JP 6 110562748 110562748 single base substitution A T intron_variant LIRI-JP 6 110563005 110563007 deletion of <=200bp AGA - intron_variant LIRI-JP 6 110565467 110565467 single base substitution A C intron_variant LIRI-JP 6 110571739 110571739 single base substitution G A intron_variant LIRI-JP 6 110576008 110576008 single base substitution G A downstream_gene_variant LIRI-JP 6 110578675 110578675 single base substitution G A downstream_gene_variant LIRI-JP 6 110579018 110579018 single base substitution A C downstream_gene_variant LUSC-KR 6 110499446 110499446 single base substitution G C upstream_gene_variant LUSC-KR 6 110501535 110501535 single base substitution C T intron_variant LUSC-KR 6 110501535 110501535 single base substitution C T upstream_gene_variant LUSC-KR 6 110501597 110501597 single base substitution C A 5_prime_UTR_variant LUSC-KR 6 110501597 110501597 single base substitution C A exon_variant LUSC-KR 6 110501597 110501597 single base substitution C A upstream_gene_variant LUSC-KR 6 110525089 110525089 single base substitution C T intron_variant LUSC-KR 6 110527519 110527519 single base substitution G T intron_variant LUSC-KR 6 110530422 110530422 single base substitution C T downstream_gene_variant LUSC-KR 6 110530422 110530422 single base substitution C T exon_variant LUSC-KR 6 110530422 110530422 single base substitution C T missense_variant S209L 626C>T LUSC-KR 6 110533870 110533870 single base substitution C T downstream_gene_variant LUSC-KR 6 110533870 110533870 single base substitution C T intron_variant LUSC-KR 6 110534402 110534402 single base substitution A C downstream_gene_variant LUSC-KR 6 110534402 110534402 single base substitution A C intron_variant LUSC-KR 6 110537372 110537372 single base substitution A G intron_variant LUSC-KR 6 110538139 110538139 single base substitution G T intron_variant LUSC-KR 6 110540993 110540993 single base substitution G C exon_variant LUSC-KR 6 110540993 110540993 single base substitution G C missense_variant V421L 1261G>C LUSC-KR 6 110540993 110540993 single base substitution G C upstream_gene_variant LUSC-KR 6 110551584 110551584 single base substitution T C 3_prime_UTR_variant LUSC-KR 6 110551584 110551584 single base substitution T C downstream_gene_variant LUSC-KR 6 110551584 110551584 single base substitution T C intron_variant LUSC-KR 6 110551912 110551912 single base substitution C G 3_prime_UTR_variant LUSC-KR 6 110551912 110551912 single base substitution C G downstream_gene_variant LUSC-KR 6 110551912 110551912 single base substitution C G intron_variant LUSC-KR 6 110557047 110557047 single base substitution A T downstream_gene_variant LUSC-KR 6 110557047 110557047 single base substitution A T intron_variant LUSC-KR 6 110558282 110558282 single base substitution C G downstream_gene_variant LUSC-KR 6 110558282 110558282 single base substitution C G intron_variant LUSC-KR 6 110559007 110559007 single base substitution A G intron_variant LUSC-KR 6 110560262 110560262 single base substitution G T intron_variant LUSC-KR 6 110562067 110562067 single base substitution G T intron_variant LUSC-KR 6 110563178 110563178 single base substitution C G intron_variant LUSC-KR 6 110564561 110564561 single base substitution C T intron_variant LUSC-KR 6 110568676 110568676 single base substitution C A intron_variant LUSC-KR 6 110570603 110570603 single base substitution G A intron_variant LUSC-KR 6 110573624 110573624 single base substitution T C intron_variant LUSC-KR 6 110575087 110575087 single base substitution G T splice_acceptor_variant LUSC-KR 6 110575796 110575796 single base substitution C T downstream_gene_variant LUSC-KR 6 110576382 110576382 single base substitution T A downstream_gene_variant LUSC-KR 6 110577452 110577452 single base substitution C A downstream_gene_variant LUSC-KR 6 110580058 110580058 single base substitution A T downstream_gene_variant LUSC-KR 6 110580066 110580066 single base substitution G C downstream_gene_variant LUSC-US 6 110538960 110538960 single base substitution C T exon_variant LUSC-US 6 110538960 110538960 single base substitution C T synonymous_variant L348L 1044C>T LUSC-US 6 110540601 110540601 single base substitution A T exon_variant LUSC-US 6 110540601 110540601 single base substitution A T synonymous_variant V375V 1125A>T LUSC-US 6 110540601 110540601 single base substitution A T upstream_gene_variant LUSC-US 6 110540978 110540978 single base substitution C A exon_variant LUSC-US 6 110540978 110540978 single base substitution C A synonymous_variant R416R 1246C>A LUSC-US 6 110540978 110540978 single base substitution C A upstream_gene_variant LUSC-US 6 110541048 110541048 single base substitution A T exon_variant LUSC-US 6 110541048 110541048 single base substitution A T missense_variant D439V 1316A>T LUSC-US 6 110541048 110541048 single base substitution A T upstream_gene_variant LUSC-US 6 110551303 110551303 single base substitution G T exon_variant LUSC-US 6 110551303 110551303 single base substitution G T intron_variant LUSC-US 6 110551303 110551303 single base substitution G T missense_variant G570V 1709G>T MALY-DE 6 110499587 110499587 deletion of <=200bp C - upstream_gene_variant MALY-DE 6 110499792 110499792 single base substitution T C upstream_gene_variant MALY-DE 6 110511270 110511270 single base substitution G A intron_variant MALY-DE 6 110521441 110521441 single base substitution A C intron_variant MALY-DE 6 110521441 110521441 single base substitution A C upstream_gene_variant MALY-DE 6 110521454 110521454 single base substitution A G intron_variant MALY-DE 6 110521454 110521454 single base substitution A G upstream_gene_variant MALY-DE 6 110523149 110523149 single base substitution G A intron_variant MALY-DE 6 110523822 110523822 single base substitution C G intron_variant MALY-DE 6 110524766 110524766 single base substitution A G intron_variant MALY-DE 6 110567669 110567669 single base substitution A C intron_variant MELA-AU 6 110496440 110496440 single base substitution G A upstream_gene_variant MELA-AU 6 110496663 110496664 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 110496694 110496695 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 110496716 110496716 single base substitution G A upstream_gene_variant MELA-AU 6 110497580 110497580 single base substitution G A upstream_gene_variant MELA-AU 6 110497655 110497655 single base substitution A C upstream_gene_variant MELA-AU 6 110497813 110497813 single base substitution G A upstream_gene_variant MELA-AU 6 110497825 110497825 single base substitution C T upstream_gene_variant MELA-AU 6 110497979 110497979 single base substitution G A upstream_gene_variant MELA-AU 6 110498913 110498913 single base substitution C T upstream_gene_variant MELA-AU 6 110498978 110498978 single base substitution T C upstream_gene_variant MELA-AU 6 110499031 110499031 single base substitution G A upstream_gene_variant MELA-AU 6 110499289 110499289 single base substitution A G upstream_gene_variant MELA-AU 6 110500628 110500629 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 110500798 110500798 single base substitution G A upstream_gene_variant MELA-AU 6 110501192 110501192 single base substitution C T upstream_gene_variant MELA-AU 6 110501245 110501245 single base substitution G A upstream_gene_variant MELA-AU 6 110501246 110501246 single base substitution G A upstream_gene_variant MELA-AU 6 110501273 110501273 single base substitution G A upstream_gene_variant MELA-AU 6 110501275 110501276 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 110501277 110501277 single base substitution G A upstream_gene_variant MELA-AU 6 110501285 110501285 single base substitution C T upstream_gene_variant MELA-AU 6 110501292 110501292 single base substitution C T upstream_gene_variant MELA-AU 6 110501296 110501296 single base substitution C T upstream_gene_variant MELA-AU 6 110501297 110501298 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 110501300 110501300 single base substitution C T upstream_gene_variant MELA-AU 6 110501339 110501339 single base substitution C T upstream_gene_variant MELA-AU 6 110501606 110501606 single base substitution C T 5_prime_UTR_variant MELA-AU 6 110501606 110501606 single base substitution C T exon_variant MELA-AU 6 110501606 110501606 single base substitution C T upstream_gene_variant MELA-AU 6 110501609 110501609 single base substitution C T 5_prime_UTR_variant MELA-AU 6 110501609 110501609 single base substitution C T exon_variant MELA-AU 6 110501609 110501609 single base substitution C T upstream_gene_variant MELA-AU 6 110502301 110502301 single base substitution C T intron_variant MELA-AU 6 110502814 110502814 single base substitution C T intron_variant MELA-AU 6 110502962 110502962 single base substitution C T intron_variant MELA-AU 6 110503038 110503038 single base substitution T G intron_variant MELA-AU 6 110503327 110503327 single base substitution G A intron_variant MELA-AU 6 110503454 110503454 single base substitution G A intron_variant MELA-AU 6 110503914 110503914 single base substitution C T intron_variant MELA-AU 6 110504474 110504474 single base substitution C T intron_variant MELA-AU 6 110505899 110505899 single base substitution G A intron_variant MELA-AU 6 110506324 110506324 single base substitution G A intron_variant MELA-AU 6 110506421 110506421 deletion of <=200bp T - intron_variant MELA-AU 6 110506666 110506666 single base substitution C T intron_variant MELA-AU 6 110507706 110507706 single base substitution A C intron_variant MELA-AU 6 110507918 110507918 single base substitution C T intron_variant MELA-AU 6 110508914 110508914 single base substitution G A intron_variant MELA-AU 6 110510452 110510452 single base substitution C T intron_variant MELA-AU 6 110510702 110510702 single base substitution C T intron_variant MELA-AU 6 110510839 110510839 single base substitution C T intron_variant MELA-AU 6 110510895 110510895 single base substitution C G intron_variant MELA-AU 6 110510986 110510986 single base substitution C T intron_variant MELA-AU 6 110512043 110512043 single base substitution C T intron_variant MELA-AU 6 110512071 110512071 single base substitution G A intron_variant MELA-AU 6 110512590 110512590 single base substitution G A intron_variant MELA-AU 6 110513367 110513367 single base substitution C T intron_variant MELA-AU 6 110514414 110514414 single base substitution C T exon_variant MELA-AU 6 110514414 110514414 single base substitution C T synonymous_variant D73D 219C>T MELA-AU 6 110514856 110514856 single base substitution C T intron_variant MELA-AU 6 110515461 110515461 single base substitution A T intron_variant MELA-AU 6 110515461 110515461 single base substitution A T upstream_gene_variant MELA-AU 6 110515851 110515851 single base substitution C T intron_variant MELA-AU 6 110515851 110515851 single base substitution C T upstream_gene_variant MELA-AU 6 110516155 110516155 single base substitution C T intron_variant MELA-AU 6 110516155 110516155 single base substitution C T upstream_gene_variant MELA-AU 6 110516274 110516274 single base substitution G A intron_variant MELA-AU 6 110516274 110516274 single base substitution G A upstream_gene_variant MELA-AU 6 110516823 110516823 single base substitution C T intron_variant MELA-AU 6 110516823 110516823 single base substitution C T upstream_gene_variant MELA-AU 6 110518241 110518241 single base substitution C T intron_variant MELA-AU 6 110518241 110518241 single base substitution C T upstream_gene_variant MELA-AU 6 110518760 110518760 single base substitution T C intron_variant MELA-AU 6 110518760 110518760 single base substitution T C upstream_gene_variant MELA-AU 6 110519098 110519098 single base substitution C T intron_variant MELA-AU 6 110519098 110519098 single base substitution C T upstream_gene_variant MELA-AU 6 110519395 110519395 single base substitution T A intron_variant MELA-AU 6 110519395 110519395 single base substitution T A upstream_gene_variant MELA-AU 6 110520110 110520110 single base substitution C T intron_variant MELA-AU 6 110520110 110520110 single base substitution C T upstream_gene_variant MELA-AU 6 110520910 110520910 single base substitution T C intron_variant MELA-AU 6 110520910 110520910 single base substitution T C upstream_gene_variant MELA-AU 6 110521302 110521302 single base substitution C T intron_variant MELA-AU 6 110521302 110521302 single base substitution C T upstream_gene_variant MELA-AU 6 110521368 110521368 single base substitution C T intron_variant MELA-AU 6 110521368 110521368 single base substitution C T upstream_gene_variant MELA-AU 6 110521459 110521459 single base substitution T C intron_variant MELA-AU 6 110521459 110521459 single base substitution T C upstream_gene_variant MELA-AU 6 110521677 110521677 single base substitution C T intron_variant MELA-AU 6 110521677 110521677 single base substitution C T upstream_gene_variant MELA-AU 6 110521930 110521930 single base substitution C T intron_variant MELA-AU 6 110521930 110521930 single base substitution C T upstream_gene_variant MELA-AU 6 110522549 110522549 single base substitution G T intron_variant MELA-AU 6 110522549 110522549 single base substitution G T upstream_gene_variant MELA-AU 6 110522608 110522608 single base substitution C A intron_variant MELA-AU 6 110522608 110522608 single base substitution C A upstream_gene_variant MELA-AU 6 110523014 110523015 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 110523077 110523077 single base substitution C T intron_variant MELA-AU 6 110524395 110524395 single base substitution A G intron_variant MELA-AU 6 110524544 110524544 single base substitution C T intron_variant MELA-AU 6 110525155 110525155 single base substitution T C intron_variant MELA-AU 6 110525511 110525511 single base substitution G A intron_variant MELA-AU 6 110526332 110526332 single base substitution T G intron_variant MELA-AU 6 110526620 110526620 single base substitution C T intron_variant MELA-AU 6 110527345 110527345 single base substitution T G intron_variant MELA-AU 6 110527963 110527963 single base substitution A G intron_variant MELA-AU 6 110528030 110528030 single base substitution C T intron_variant MELA-AU 6 110528141 110528141 single base substitution C T intron_variant MELA-AU 6 110528718 110528718 single base substitution T C exon_variant MELA-AU 6 110528718 110528718 single base substitution T C missense_variant L139S 416T>C MELA-AU 6 110529255 110529255 single base substitution C T intron_variant MELA-AU 6 110529420 110529420 single base substitution G A intron_variant MELA-AU 6 110529669 110529669 single base substitution A G intron_variant MELA-AU 6 110530020 110530020 single base substitution C T intron_variant MELA-AU 6 110530392 110530392 single base substitution A G downstream_gene_variant MELA-AU 6 110530392 110530392 single base substitution A G exon_variant MELA-AU 6 110530392 110530392 single base substitution A G missense_variant Y199C 596A>G MELA-AU 6 110530671 110530671 single base substitution C T downstream_gene_variant MELA-AU 6 110530671 110530671 single base substitution C T intron_variant MELA-AU 6 110530827 110530827 single base substitution T A downstream_gene_variant MELA-AU 6 110530827 110530827 single base substitution T A intron_variant MELA-AU 6 110531211 110531211 single base substitution C T downstream_gene_variant MELA-AU 6 110531211 110531211 single base substitution C T intron_variant MELA-AU 6 110531271 110531271 single base substitution C T downstream_gene_variant MELA-AU 6 110531271 110531271 single base substitution C T intron_variant MELA-AU 6 110531807 110531807 single base substitution C T downstream_gene_variant MELA-AU 6 110531807 110531807 single base substitution C T intron_variant MELA-AU 6 110532318 110532318 single base substitution C T downstream_gene_variant MELA-AU 6 110532318 110532318 single base substitution C T exon_variant MELA-AU 6 110532318 110532318 single base substitution C T intron_variant MELA-AU 6 110532828 110532828 single base substitution G A downstream_gene_variant MELA-AU 6 110532828 110532828 single base substitution G A exon_variant MELA-AU 6 110532828 110532828 single base substitution G A intron_variant MELA-AU 6 110532950 110532950 single base substitution C T downstream_gene_variant MELA-AU 6 110532950 110532950 single base substitution C T exon_variant MELA-AU 6 110532950 110532950 single base substitution C T intron_variant MELA-AU 6 110533052 110533052 single base substitution C T downstream_gene_variant MELA-AU 6 110533052 110533052 single base substitution C T exon_variant MELA-AU 6 110533052 110533052 single base substitution C T intron_variant MELA-AU 6 110533635 110533635 single base substitution C T downstream_gene_variant MELA-AU 6 110533635 110533635 single base substitution C T intron_variant MELA-AU 6 110534716 110534717 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 110534716 110534717 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 110534915 110534915 single base substitution C T downstream_gene_variant MELA-AU 6 110534915 110534915 single base substitution C T intron_variant MELA-AU 6 110539572 110539572 single base substitution A T intron_variant MELA-AU 6 110540790 110540790 single base substitution G A intron_variant MELA-AU 6 110540790 110540790 single base substitution G A upstream_gene_variant MELA-AU 6 110542662 110542662 single base substitution C T intron_variant MELA-AU 6 110542662 110542662 single base substitution C T upstream_gene_variant MELA-AU 6 110543080 110543080 single base substitution T G intron_variant MELA-AU 6 110543080 110543080 single base substitution T G upstream_gene_variant MELA-AU 6 110543588 110543588 single base substitution C T intron_variant MELA-AU 6 110543588 110543588 single base substitution C T upstream_gene_variant MELA-AU 6 110543713 110543713 single base substitution T G intron_variant MELA-AU 6 110543713 110543713 single base substitution T G upstream_gene_variant MELA-AU 6 110544118 110544118 single base substitution C T intron_variant MELA-AU 6 110544118 110544118 single base substitution C T upstream_gene_variant MELA-AU 6 110544410 110544410 single base substitution C T intron_variant MELA-AU 6 110544410 110544410 single base substitution C T upstream_gene_variant MELA-AU 6 110544693 110544694 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 110544693 110544694 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 110545293 110545293 single base substitution C A intron_variant MELA-AU 6 110545293 110545293 single base substitution C A upstream_gene_variant MELA-AU 6 110545361 110545361 single base substitution C T intron_variant MELA-AU 6 110545361 110545361 single base substitution C T upstream_gene_variant MELA-AU 6 110545377 110545377 single base substitution C T intron_variant MELA-AU 6 110545377 110545377 single base substitution C T upstream_gene_variant MELA-AU 6 110545526 110545526 single base substitution G A exon_variant MELA-AU 6 110545526 110545526 single base substitution G A intron_variant MELA-AU 6 110545679 110545680 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 110545784 110545787 deletion of <=200bp GTTT - intron_variant MELA-AU 6 110546193 110546193 single base substitution T A intron_variant MELA-AU 6 110546292 110546292 single base substitution C T intron_variant MELA-AU 6 110546399 110546399 single base substitution C T intron_variant MELA-AU 6 110546930 110546930 single base substitution C T intron_variant MELA-AU 6 110547305 110547305 single base substitution C T intron_variant MELA-AU 6 110547938 110547938 single base substitution C T intron_variant MELA-AU 6 110547985 110547985 single base substitution C T intron_variant MELA-AU 6 110548076 110548076 single base substitution C T intron_variant MELA-AU 6 110548634 110548634 single base substitution C T intron_variant MELA-AU 6 110550036 110550036 single base substitution A G intron_variant MELA-AU 6 110550036 110550036 single base substitution A G splice_region_variant MELA-AU 6 110550201 110550201 single base substitution C T intron_variant MELA-AU 6 110550390 110550390 single base substitution C T intron_variant MELA-AU 6 110551021 110551021 single base substitution C T intron_variant MELA-AU 6 110552773 110552773 single base substitution C T 3_prime_UTR_variant MELA-AU 6 110552773 110552773 single base substitution C T downstream_gene_variant MELA-AU 6 110552773 110552773 single base substitution C T exon_variant MELA-AU 6 110552773 110552773 single base substitution C T intron_variant MELA-AU 6 110553545 110553545 single base substitution G A downstream_gene_variant MELA-AU 6 110553545 110553545 single base substitution G A intron_variant MELA-AU 6 110553813 110553813 single base substitution C T downstream_gene_variant MELA-AU 6 110553813 110553813 single base substitution C T intron_variant MELA-AU 6 110553817 110553817 single base substitution C T downstream_gene_variant MELA-AU 6 110553817 110553817 single base substitution C T intron_variant MELA-AU 6 110554343 110554343 single base substitution C T downstream_gene_variant MELA-AU 6 110554343 110554343 single base substitution C T intron_variant MELA-AU 6 110554884 110554884 single base substitution C T downstream_gene_variant MELA-AU 6 110554884 110554884 single base substitution C T intron_variant MELA-AU 6 110555153 110555153 single base substitution C T downstream_gene_variant MELA-AU 6 110555153 110555153 single base substitution C T intron_variant MELA-AU 6 110556459 110556459 single base substitution C T downstream_gene_variant MELA-AU 6 110556459 110556459 single base substitution C T intron_variant MELA-AU 6 110556568 110556568 single base substitution C T downstream_gene_variant MELA-AU 6 110556568 110556568 single base substitution C T intron_variant MELA-AU 6 110556700 110556700 single base substitution C T downstream_gene_variant MELA-AU 6 110556700 110556700 single base substitution C T intron_variant MELA-AU 6 110556798 110556798 single base substitution C T downstream_gene_variant MELA-AU 6 110556798 110556798 single base substitution C T intron_variant MELA-AU 6 110557260 110557260 single base substitution C T downstream_gene_variant MELA-AU 6 110557260 110557260 single base substitution C T intron_variant MELA-AU 6 110557278 110557278 single base substitution C T downstream_gene_variant MELA-AU 6 110557278 110557278 single base substitution C T intron_variant MELA-AU 6 110557376 110557376 single base substitution T G downstream_gene_variant MELA-AU 6 110557376 110557376 single base substitution T G intron_variant MELA-AU 6 110557423 110557423 single base substitution C T downstream_gene_variant MELA-AU 6 110557423 110557423 single base substitution C T intron_variant MELA-AU 6 110558475 110558475 single base substitution C T intron_variant MELA-AU 6 110558632 110558632 single base substitution T A intron_variant MELA-AU 6 110558978 110558978 single base substitution C T intron_variant MELA-AU 6 110560696 110560696 single base substitution C T intron_variant MELA-AU 6 110561268 110561268 single base substitution C T intron_variant MELA-AU 6 110561458 110561458 single base substitution A T intron_variant MELA-AU 6 110561568 110561568 single base substitution C T intron_variant MELA-AU 6 110562875 110562875 single base substitution C T intron_variant MELA-AU 6 110563359 110563359 single base substitution C T intron_variant MELA-AU 6 110563719 110563719 single base substitution T A intron_variant MELA-AU 6 110564737 110564737 single base substitution C T intron_variant MELA-AU 6 110565195 110565195 single base substitution T C intron_variant MELA-AU 6 110565279 110565279 single base substitution C T intron_variant MELA-AU 6 110565308 110565308 single base substitution C T intron_variant MELA-AU 6 110565336 110565336 single base substitution C T intron_variant MELA-AU 6 110565569 110565569 single base substitution C T intron_variant MELA-AU 6 110565582 110565582 single base substitution C T intron_variant MELA-AU 6 110565964 110565964 single base substitution C T intron_variant MELA-AU 6 110566217 110566217 single base substitution T C intron_variant MELA-AU 6 110566313 110566313 single base substitution C T intron_variant MELA-AU 6 110566622 110566623 multiple base substitution (>=2bp and <=200bp) CT GC intron_variant MELA-AU 6 110566724 110566724 single base substitution C T intron_variant MELA-AU 6 110566758 110566758 single base substitution C T intron_variant MELA-AU 6 110567031 110567031 single base substitution C T intron_variant MELA-AU 6 110567625 110567625 single base substitution C T intron_variant MELA-AU 6 110567683 110567683 single base substitution C T intron_variant MELA-AU 6 110567754 110567754 single base substitution G T intron_variant MELA-AU 6 110568291 110568291 single base substitution C T intron_variant MELA-AU 6 110568370 110568370 single base substitution A T intron_variant MELA-AU 6 110568749 110568749 single base substitution G A intron_variant MELA-AU 6 110568828 110568828 single base substitution A G intron_variant MELA-AU 6 110569292 110569292 single base substitution C T intron_variant MELA-AU 6 110569743 110569743 single base substitution G A intron_variant MELA-AU 6 110569981 110569981 single base substitution T A intron_variant MELA-AU 6 110570115 110570115 single base substitution G A intron_variant MELA-AU 6 110570173 110570174 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 110570225 110570225 single base substitution C T intron_variant MELA-AU 6 110570413 110570413 single base substitution C T intron_variant MELA-AU 6 110570786 110570786 single base substitution G A intron_variant MELA-AU 6 110571358 110571358 single base substitution C T intron_variant MELA-AU 6 110571582 110571582 single base substitution C T intron_variant MELA-AU 6 110571719 110571719 single base substitution C T intron_variant MELA-AU 6 110571900 110571900 single base substitution C A intron_variant MELA-AU 6 110571905 110571905 single base substitution G A intron_variant MELA-AU 6 110572161 110572161 single base substitution C T intron_variant MELA-AU 6 110572232 110572233 multiple base substitution (>=2bp and <=200bp) AT CG intron_variant MELA-AU 6 110572259 110572259 single base substitution C T intron_variant MELA-AU 6 110572294 110572294 single base substitution C T intron_variant MELA-AU 6 110572321 110572321 single base substitution C A intron_variant MELA-AU 6 110572332 110572332 single base substitution G A intron_variant MELA-AU 6 110572386 110572386 single base substitution G A intron_variant MELA-AU 6 110572652 110572652 single base substitution G A intron_variant MELA-AU 6 110572930 110572930 single base substitution G A intron_variant MELA-AU 6 110573032 110573032 single base substitution C T intron_variant MELA-AU 6 110573050 110573050 single base substitution C T intron_variant MELA-AU 6 110573136 110573136 single base substitution C T intron_variant MELA-AU 6 110573168 110573168 single base substitution G A intron_variant MELA-AU 6 110573469 110573469 single base substitution C T intron_variant MELA-AU 6 110573670 110573670 single base substitution C T intron_variant MELA-AU 6 110573941 110573941 single base substitution G A intron_variant MELA-AU 6 110574003 110574003 single base substitution C T intron_variant MELA-AU 6 110574319 110574319 single base substitution G A intron_variant MELA-AU 6 110574341 110574341 single base substitution G A intron_variant MELA-AU 6 110574905 110574905 single base substitution A G intron_variant MELA-AU 6 110575092 110575092 single base substitution C T missense_variant P523S 1567C>T MELA-AU 6 110575139 110575139 single base substitution G A synonymous_variant E538E 1614G>A MELA-AU 6 110575206 110575206 single base substitution C T 3_prime_UTR_variant MELA-AU 6 110575220 110575220 single base substitution G A 3_prime_UTR_variant MELA-AU 6 110575892 110575892 single base substitution C T downstream_gene_variant MELA-AU 6 110575924 110575924 single base substitution C T downstream_gene_variant MELA-AU 6 110575925 110575925 single base substitution C T downstream_gene_variant MELA-AU 6 110576310 110576310 single base substitution G A downstream_gene_variant MELA-AU 6 110576435 110576435 single base substitution G A downstream_gene_variant MELA-AU 6 110576475 110576475 single base substitution C T downstream_gene_variant MELA-AU 6 110577001 110577001 single base substitution A T downstream_gene_variant MELA-AU 6 110577048 110577048 single base substitution G A downstream_gene_variant MELA-AU 6 110577070 110577070 single base substitution G A downstream_gene_variant MELA-AU 6 110577346 110577346 single base substitution G A downstream_gene_variant MELA-AU 6 110577514 110577514 single base substitution C T downstream_gene_variant MELA-AU 6 110577794 110577794 single base substitution C T downstream_gene_variant MELA-AU 6 110577814 110577814 single base substitution C T downstream_gene_variant MELA-AU 6 110577893 110577893 single base substitution G A downstream_gene_variant MELA-AU 6 110577908 110577908 single base substitution G A downstream_gene_variant MELA-AU 6 110577914 110577914 single base substitution G A downstream_gene_variant MELA-AU 6 110578094 110578094 single base substitution C T downstream_gene_variant MELA-AU 6 110578247 110578247 single base substitution C T downstream_gene_variant MELA-AU 6 110578430 110578430 single base substitution G A downstream_gene_variant MELA-AU 6 110578635 110578635 single base substitution C T downstream_gene_variant MELA-AU 6 110578794 110578794 single base substitution A C downstream_gene_variant MELA-AU 6 110578896 110578896 single base substitution G A downstream_gene_variant MELA-AU 6 110579759 110579759 single base substitution G A downstream_gene_variant MELA-AU 6 110579783 110579783 single base substitution G A downstream_gene_variant MELA-AU 6 110579854 110579854 single base substitution G A downstream_gene_variant MELA-AU 6 110579868 110579868 single base substitution C T downstream_gene_variant MELA-AU 6 110580098 110580098 single base substitution C T downstream_gene_variant MELA-AU 6 110580131 110580131 single base substitution A T downstream_gene_variant MELA-AU 6 110580201 110580201 single base substitution C T downstream_gene_variant MELA-AU 6 110580211 110580211 single base substitution G A downstream_gene_variant MELA-AU 6 110580260 110580260 single base substitution G A downstream_gene_variant MELA-AU 6 110580404 110580404 single base substitution G A downstream_gene_variant MELA-AU 6 110580425 110580425 single base substitution G A downstream_gene_variant MELA-AU 6 110580464 110580464 single base substitution C T downstream_gene_variant ORCA-IN 6 110499034 110499034 single base substitution A T upstream_gene_variant ORCA-IN 6 110534292 110534292 single base substitution G A downstream_gene_variant ORCA-IN 6 110534292 110534292 single base substitution G A exon_variant ORCA-IN 6 110534292 110534292 single base substitution G A missense_variant V291I 871G>A ORCA-IN 6 110547826 110547826 single base substitution G T intron_variant ORCA-IN 6 110552368 110552368 single base substitution G C 3_prime_UTR_variant ORCA-IN 6 110552368 110552368 single base substitution G C downstream_gene_variant ORCA-IN 6 110552368 110552368 single base substitution G C intron_variant ORCA-IN 6 110571187 110571187 single base substitution G A intron_variant OV-AU 6 110504548 110504548 single base substitution G C intron_variant OV-AU 6 110508867 110508867 single base substitution T G intron_variant OV-AU 6 110513853 110513853 single base substitution T A intron_variant OV-AU 6 110519388 110519388 single base substitution T C intron_variant OV-AU 6 110519388 110519388 single base substitution T C upstream_gene_variant OV-AU 6 110523233 110523233 single base substitution A G intron_variant OV-AU 6 110530267 110530267 single base substitution T A intron_variant OV-AU 6 110537288 110537288 single base substitution A T intron_variant OV-AU 6 110538960 110538960 single base substitution C T exon_variant OV-AU 6 110538960 110538960 single base substitution C T synonymous_variant L348L 1044C>T OV-AU 6 110539428 110539428 single base substitution A C intron_variant OV-AU 6 110555447 110555447 single base substitution T A downstream_gene_variant OV-AU 6 110555447 110555447 single base substitution T A intron_variant OV-AU 6 110556222 110556222 single base substitution T A downstream_gene_variant OV-AU 6 110556222 110556222 single base substitution T A intron_variant OV-AU 6 110562039 110562039 single base substitution T A intron_variant OV-AU 6 110566513 110566513 single base substitution G C intron_variant OV-AU 6 110575053 110575053 single base substitution C T intron_variant OV-AU 6 110578288 110578288 single base substitution A C downstream_gene_variant PACA-AU 6 110501525 110501525 single base substitution A T intron_variant PACA-AU 6 110501525 110501525 single base substitution A T upstream_gene_variant PACA-AU 6 110502829 110502829 single base substitution C A intron_variant PACA-AU 6 110506424 110506424 single base substitution C G intron_variant PACA-AU 6 110515538 110515538 single base substitution G A intron_variant PACA-AU 6 110515538 110515538 single base substitution G A upstream_gene_variant PACA-AU 6 110515539 110515539 single base substitution G T intron_variant PACA-AU 6 110515539 110515539 single base substitution G T upstream_gene_variant PACA-AU 6 110527003 110527003 single base substitution A G intron_variant PACA-AU 6 110529061 110529061 single base substitution C A intron_variant PACA-AU 6 110538710 110538710 deletion of <=200bp A - intron_variant PACA-AU 6 110540949 110540949 single base substitution G A exon_variant PACA-AU 6 110540949 110540949 single base substitution G A missense_variant R406Q 1217G>A PACA-AU 6 110540949 110540949 single base substitution G A upstream_gene_variant PACA-AU 6 110552303 110552303 single base substitution C T 3_prime_UTR_variant PACA-AU 6 110552303 110552303 single base substitution C T downstream_gene_variant PACA-AU 6 110552303 110552303 single base substitution C T intron_variant PACA-AU 6 110556244 110556244 single base substitution G A downstream_gene_variant PACA-AU 6 110556244 110556244 single base substitution G A intron_variant PACA-AU 6 110558865 110558865 single base substitution C T intron_variant PACA-AU 6 110567765 110567765 single base substitution C T intron_variant PACA-AU 6 110572348 110572348 single base substitution C T intron_variant PACA-CA 6 110498158 110498158 single base substitution G T upstream_gene_variant PACA-CA 6 110505461 110505472 deletion of <=200bp AGTTTAGAATTA - intron_variant PACA-CA 6 110509875 110509875 single base substitution A G intron_variant PACA-CA 6 110509983 110509983 single base substitution G C intron_variant PACA-CA 6 110511974 110511974 single base substitution C T intron_variant PACA-CA 6 110514420 110514420 single base substitution C T exon_variant PACA-CA 6 110514420 110514420 single base substitution C T synonymous_variant A75A 225C>T PACA-CA 6 110514711 110514711 single base substitution C T intron_variant PACA-CA 6 110518346 110518346 single base substitution A G intron_variant PACA-CA 6 110518346 110518346 single base substitution A G upstream_gene_variant PACA-CA 6 110519828 110519828 single base substitution A G intron_variant PACA-CA 6 110519828 110519828 single base substitution A G upstream_gene_variant PACA-CA 6 110528748 110528748 single base substitution C G exon_variant PACA-CA 6 110528748 110528748 single base substitution C G missense_variant S149C 446C>G PACA-CA 6 110530395 110530395 single base substitution T C downstream_gene_variant PACA-CA 6 110530395 110530395 single base substitution T C exon_variant PACA-CA 6 110530395 110530395 single base substitution T C missense_variant V200A 599T>C PACA-CA 6 110531367 110531367 single base substitution T A downstream_gene_variant PACA-CA 6 110531367 110531367 single base substitution T A intron_variant PACA-CA 6 110531625 110531625 single base substitution C T downstream_gene_variant PACA-CA 6 110531625 110531625 single base substitution C T intron_variant PACA-CA 6 110538431 110538431 insertion of <=200bp - AC intron_variant PACA-CA 6 110541028 110541028 single base substitution A T exon_variant PACA-CA 6 110541028 110541028 single base substitution A T missense_variant R432S 1296A>T PACA-CA 6 110541028 110541028 single base substitution A T upstream_gene_variant PACA-CA 6 110542080 110542080 single base substitution G A intron_variant PACA-CA 6 110542080 110542080 single base substitution G A upstream_gene_variant PACA-CA 6 110558943 110558943 single base substitution G A intron_variant PACA-CA 6 110568858 110568858 single base substitution C A intron_variant PACA-CA 6 110571839 110571839 single base substitution G A intron_variant PACA-CA 6 110577967 110577967 single base substitution C T downstream_gene_variant PACA-CA 6 110580002 110580002 single base substitution C T downstream_gene_variant PACA-CA 6 110580264 110580264 single base substitution T C downstream_gene_variant PAEN-AU 6 110527980 110527980 single base substitution G C intron_variant PAEN-AU 6 110560686 110560686 single base substitution G T intron_variant PAEN-IT 6 110501127 110501127 single base substitution C A upstream_gene_variant PAEN-IT 6 110501251 110501251 single base substitution T G upstream_gene_variant PBCA-DE 6 110510444 110510444 insertion of <=200bp - T intron_variant PBCA-DE 6 110511950 110511950 insertion of <=200bp - GAAGGGGT intron_variant PBCA-DE 6 110522346 110522346 single base substitution A T intron_variant PBCA-DE 6 110522346 110522346 single base substitution A T upstream_gene_variant PBCA-DE 6 110530177 110530177 deletion of <=200bp C - intron_variant PBCA-DE 6 110533135 110533135 single base substitution C G downstream_gene_variant PBCA-DE 6 110533135 110533135 single base substitution C G exon_variant PBCA-DE 6 110533135 110533135 single base substitution C G intron_variant PBCA-DE 6 110543766 110543766 insertion of <=200bp - A intron_variant PBCA-DE 6 110543766 110543766 insertion of <=200bp - A upstream_gene_variant PBCA-DE 6 110548213 110548213 deletion of <=200bp A - intron_variant PBCA-DE 6 110551062 110551062 single base substitution A T intron_variant PBCA-DE 6 110564990 110564990 deletion of <=200bp T - intron_variant PBCA-DE 6 110571551 110571551 deletion of <=200bp C - intron_variant PRAD-CA 6 110536601 110536601 single base substitution A G intron_variant PRAD-CA 6 110544842 110544842 single base substitution A C intron_variant PRAD-CA 6 110544842 110544842 single base substitution A C upstream_gene_variant PRAD-CA 6 110548003 110548003 single base substitution T C intron_variant PRAD-CA 6 110557476 110557476 single base substitution C T downstream_gene_variant PRAD-CA 6 110557476 110557476 single base substitution C T intron_variant PRAD-CA 6 110567275 110567275 single base substitution T A intron_variant PRAD-CA 6 110572218 110572218 single base substitution T A intron_variant PRAD-CA 6 110575326 110575326 single base substitution T G 3_prime_UTR_variant PRAD-UK 6 110501216 110501216 single base substitution G T upstream_gene_variant PRAD-UK 6 110501266 110501266 single base substitution G A upstream_gene_variant PRAD-UK 6 110519999 110519999 single base substitution C T intron_variant PRAD-UK 6 110519999 110519999 single base substitution C T upstream_gene_variant PRAD-UK 6 110521170 110521170 single base substitution T C intron_variant PRAD-UK 6 110521170 110521170 single base substitution T C upstream_gene_variant PRAD-UK 6 110528102 110528102 single base substitution G C intron_variant PRAD-UK 6 110531277 110531277 single base substitution G A downstream_gene_variant PRAD-UK 6 110531277 110531277 single base substitution G A intron_variant PRAD-UK 6 110542381 110542381 single base substitution A G intron_variant PRAD-UK 6 110542381 110542381 single base substitution A G upstream_gene_variant PRAD-UK 6 110554874 110554874 single base substitution G C downstream_gene_variant PRAD-UK 6 110554874 110554874 single base substitution G C intron_variant PRAD-UK 6 110555005 110555005 single base substitution T A downstream_gene_variant PRAD-UK 6 110555005 110555005 single base substitution T A intron_variant PRAD-UK 6 110577924 110577924 single base substitution C A downstream_gene_variant PRAD-US 6 110547378 110547378 single base substitution C T exon_variant PRAD-US 6 110547378 110547378 single base substitution C T intron_variant PRAD-US 6 110547378 110547378 single base substitution C T missense_variant P450L 1349C>T READ-US 6 110550090 110550090 single base substitution G T exon_variant READ-US 6 110550090 110550090 single base substitution G T intron_variant READ-US 6 110550090 110550090 single base substitution G T missense_variant Q491H 1473G>T RECA-EU 6 110529031 110529031 single base substitution A G intron_variant RECA-EU 6 110535330 110535330 single base substitution G A downstream_gene_variant RECA-EU 6 110535330 110535330 single base substitution G A intron_variant RECA-EU 6 110539795 110539795 single base substitution T C intron_variant RECA-EU 6 110545246 110545246 single base substitution G T intron_variant RECA-EU 6 110545246 110545246 single base substitution G T upstream_gene_variant RECA-EU 6 110553758 110553758 single base substitution A T downstream_gene_variant RECA-EU 6 110553758 110553758 single base substitution A T intron_variant RECA-EU 6 110568998 110568998 single base substitution T A intron_variant SKCA-BR 6 110501274 110501274 single base substitution G A upstream_gene_variant SKCA-BR 6 110501276 110501276 single base substitution G A upstream_gene_variant SKCA-BR 6 110501277 110501277 single base substitution G A upstream_gene_variant SKCA-BR 6 110501449 110501449 single base substitution C T intron_variant SKCA-BR 6 110501449 110501449 single base substitution C T upstream_gene_variant SKCA-BR 6 110503529 110503529 single base substitution G A intron_variant SKCA-BR 6 110503531 110503531 single base substitution T A intron_variant SKCA-BR 6 110504620 110504620 single base substitution T G intron_variant SKCA-BR 6 110521158 110521158 single base substitution T G intron_variant SKCA-BR 6 110521158 110521158 single base substitution T G upstream_gene_variant SKCA-BR 6 110521169 110521169 single base substitution G T intron_variant SKCA-BR 6 110521169 110521169 single base substitution G T upstream_gene_variant SKCA-BR 6 110525862 110525862 insertion of <=200bp - CT intron_variant SKCA-BR 6 110532861 110532861 single base substitution G A downstream_gene_variant SKCA-BR 6 110532861 110532861 single base substitution G A exon_variant SKCA-BR 6 110532861 110532861 single base substitution G A intron_variant SKCA-BR 6 110533129 110533129 single base substitution G A downstream_gene_variant SKCA-BR 6 110533129 110533129 single base substitution G A exon_variant SKCA-BR 6 110533129 110533129 single base substitution G A intron_variant SKCA-BR 6 110545003 110545003 insertion of <=200bp - GGGTTT intron_variant SKCA-BR 6 110545003 110545003 insertion of <=200bp - GGGTTT upstream_gene_variant SKCA-BR 6 110545924 110545924 single base substitution C T intron_variant SKCA-BR 6 110545971 110545971 single base substitution C T intron_variant SKCA-BR 6 110547210 110547210 single base substitution C T intron_variant SKCA-BR 6 110554794 110554794 single base substitution C A downstream_gene_variant SKCA-BR 6 110554794 110554794 single base substitution C A intron_variant SKCA-BR 6 110554881 110554881 single base substitution C T downstream_gene_variant SKCA-BR 6 110554881 110554881 single base substitution C T intron_variant SKCA-BR 6 110554971 110554971 single base substitution C T downstream_gene_variant SKCA-BR 6 110554971 110554971 single base substitution C T intron_variant SKCA-BR 6 110555851 110555851 single base substitution G A downstream_gene_variant SKCA-BR 6 110555851 110555851 single base substitution G A intron_variant SKCA-BR 6 110556326 110556335 deletion of <=200bp GTTTTTTTTT - downstream_gene_variant SKCA-BR 6 110556326 110556335 deletion of <=200bp GTTTTTTTTT - intron_variant SKCA-BR 6 110557955 110557955 single base substitution C T downstream_gene_variant SKCA-BR 6 110557955 110557955 single base substitution C T intron_variant SKCA-BR 6 110558211 110558211 single base substitution G A downstream_gene_variant SKCA-BR 6 110558211 110558211 single base substitution G A intron_variant SKCA-BR 6 110558213 110558213 single base substitution A C downstream_gene_variant SKCA-BR 6 110558213 110558213 single base substitution A C intron_variant SKCA-BR 6 110559259 110559259 single base substitution C T intron_variant SKCA-BR 6 110559868 110559868 single base substitution C T intron_variant SKCA-BR 6 110560315 110560315 single base substitution C T intron_variant SKCA-BR 6 110561733 110561733 single base substitution C G intron_variant SKCA-BR 6 110561794 110561794 single base substitution C T intron_variant SKCA-BR 6 110561823 110561823 single base substitution A T intron_variant SKCA-BR 6 110562381 110562381 single base substitution C T intron_variant SKCA-BR 6 110564672 110564672 single base substitution T C intron_variant SKCA-BR 6 110566173 110566173 insertion of <=200bp - TTATCTATCTATCTATC intron_variant SKCA-BR 6 110566961 110566961 single base substitution C T intron_variant SKCA-BR 6 110569954 110569954 single base substitution C T intron_variant SKCA-BR 6 110570224 110570224 single base substitution T A intron_variant SKCA-BR 6 110570637 110570637 insertion of <=200bp - GGGGGGTGCCCCCT intron_variant SKCA-BR 6 110578733 110578733 single base substitution A T downstream_gene_variant SKCA-BR 6 110578823 110578823 single base substitution G A downstream_gene_variant SKCM-US 6 110514406 110514406 single base substitution C T exon_variant SKCM-US 6 110514406 110514406 single base substitution C T missense_variant H71Y 211C>T SKCM-US 6 110514442 110514442 single base substitution C T exon_variant SKCM-US 6 110514442 110514442 single base substitution C T missense_variant P83S 247C>T SKCM-US 6 110530399 110530399 single base substitution T G downstream_gene_variant SKCM-US 6 110530399 110530399 single base substitution T G exon_variant SKCM-US 6 110530399 110530399 single base substitution T G missense_variant D201E 603T>G SKCM-US 6 110533353 110533353 single base substitution T C downstream_gene_variant SKCM-US 6 110533353 110533353 single base substitution T C exon_variant SKCM-US 6 110533353 110533353 single base substitution T C missense_variant Y249H 745T>C SKCM-US 6 110536529 110536529 single base substitution T C exon_variant SKCM-US 6 110536529 110536529 single base substitution T C missense_variant F328S 983T>C SKCM-US 6 110550068 110550068 single base substitution A G exon_variant SKCM-US 6 110550068 110550068 single base substitution A G intron_variant SKCM-US 6 110550068 110550068 single base substitution A G missense_variant Q484R 1451A>G SKCM-US 6 110551240 110551240 single base substitution A T exon_variant SKCM-US 6 110551240 110551240 single base substitution A T intron_variant SKCM-US 6 110551240 110551240 single base substitution A T missense_variant H549L 1646A>T STAD-US 6 110501676 110501676 single base substitution C T exon_variant STAD-US 6 110501676 110501676 single base substitution C T missense_variant A10V 29C>T STAD-US 6 110530384 110530384 single base substitution G T downstream_gene_variant STAD-US 6 110530384 110530384 single base substitution G T exon_variant STAD-US 6 110530384 110530384 single base substitution G T missense_variant W196C 588G>T STAD-US 6 110534291 110534291 single base substitution C T downstream_gene_variant STAD-US 6 110534291 110534291 single base substitution C T splice_region_variant STAD-US 6 110538952 110538952 single base substitution C T exon_variant STAD-US 6 110538952 110538952 single base substitution C T stop_gained Q346* 1036C>T STAD-US 6 110540593 110540593 single base substitution C T exon_variant STAD-US 6 110540593 110540593 single base substitution C T stop_gained R373* 1117C>T STAD-US 6 110540593 110540593 single base substitution C T upstream_gene_variant STAD-US 6 110540978 110540978 single base substitution C T exon_variant STAD-US 6 110540978 110540978 single base substitution C T missense_variant R416W 1246C>T STAD-US 6 110540978 110540978 single base substitution C T upstream_gene_variant STAD-US 6 110547422 110547422 single base substitution C T exon_variant STAD-US 6 110547422 110547422 single base substitution C T intron_variant STAD-US 6 110547422 110547422 single base substitution C T missense_variant P465S 1393C>T STAD-US 6 110550119 110550119 deletion of <=200bp T - exon_variant STAD-US 6 110550119 110550119 deletion of <=200bp T - frameshift_variant I501 STAD-US 6 110550119 110550119 deletion of <=200bp T - intron_variant STAD-US 6 110550125 110550125 single base substitution A G exon_variant STAD-US 6 110550125 110550125 single base substitution A G intron_variant STAD-US 6 110550125 110550125 single base substitution A G missense_variant K503R 1508A>G UCEC-US 6 110522801 110522801 single base substitution C T exon_variant UCEC-US 6 110522801 110522801 single base substitution C T missense_variant A106V 317C>T UCEC-US 6 110522801 110522801 single base substitution C T upstream_gene_variant UCEC-US 6 110522830 110522830 single base substitution G A exon_variant UCEC-US 6 110522830 110522830 single base substitution G A missense_variant E116K 346G>A UCEC-US 6 110528719 110528719 single base substitution A C exon_variant UCEC-US 6 110528719 110528719 single base substitution A C missense_variant L139F 417A>C UCEC-US 6 110530466 110530466 single base substitution C T downstream_gene_variant UCEC-US 6 110530466 110530466 single base substitution C T exon_variant UCEC-US 6 110530466 110530466 single base substitution C T intron_variant UCEC-US 6 110531922 110531922 single base substitution G T downstream_gene_variant UCEC-US 6 110531922 110531922 single base substitution G T exon_variant UCEC-US 6 110531922 110531922 single base substitution G T stop_gained E215* 643G>T UCEC-US 6 110534295 110534295 single base substitution A G downstream_gene_variant UCEC-US 6 110534295 110534295 single base substitution A G exon_variant UCEC-US 6 110534295 110534295 single base substitution A G missense_variant S292G 874A>G UCEC-US 6 110536510 110536510 single base substitution C T exon_variant UCEC-US 6 110536510 110536510 single base substitution C T missense_variant R322W 964C>T UCEC-US 6 110536513 110536513 single base substitution C T exon_variant UCEC-US 6 110536513 110536513 single base substitution C T missense_variant R323C 967C>T UCEC-US 6 110540948 110540948 single base substitution C T exon_variant UCEC-US 6 110540948 110540948 single base substitution C T stop_gained R406* 1216C>T UCEC-US 6 110540948 110540948 single base substitution C T upstream_gene_variant UCEC-US 6 110550120 110550120 single base substitution T G exon_variant UCEC-US 6 110550120 110550120 single base substitution T G intron_variant UCEC-US 6 110550120 110550120 single base substitution T G missense_variant I501M 1503T>G UCEC-US 6 110567159 110567159 single base substitution C A intron_variant UCEC-US 6 110567212 110567212 single base substitution C A intron_variant UCEC-US 6 110567215 110567215 single base substitution C G intron_variant UCEC-US 6 110567241 110567241 single base substitution C T intron_variant UCEC-US 6 110567422 110567422 single base substitution T G intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CD-A4MJ-01 COSM1439726 c.870C>T p.G290G Substitution - coding silent 6:110213088-110213088 + TCGA-MI-A75G-01 COSM4940084 c.1120A>T p.K374* Substitution - Nonsense 6:110219393-110219393 + TCGA-AX-A05Z-01 COSM1072106 c.417A>C p.L139F Substitution - Missense 6:110207516-110207516 + PCSI_0015_Pa_P_526 COSM5031296 c.599T>C p.V200A Substitution - Missense 6:110209192-110209192 + sysucc-880T COSM3393762 c.1217G>A p.R406Q Substitution - Missense 6:110219746-110219746 + C658 COSM4443533 c.1669G>T p.V557L Substitution - Missense 6:110230060-110230060 + S02384 COSM5698491 c.1396G>A p.A466T Substitution - Missense 6:110226222-110226222 + TCGA-51-4080-01 COSM739663 c.1246C>A p.R416R Substitution - coding silent 6:110219775-110219775 + TCGA-FS-A4FC-06 COSM3619454 c.1451A>G p.Q484R Substitution - Missense 6:110228865-110228865 + TCGA-D3-A51E-06 COSM3619452 c.983T>C p.F328S Substitution - Missense 6:110215326-110215326 + TCGA-G3-A25T-01 COSM4941694 c.1590A>G p.G530G Substitution - coding silent 6:110229981-110229981 + PCSI_0628_Pa_P_526 COSM5946264 c.446C>G p.S149C Substitution - Missense 6:110207545-110207545 + TCGA-D9-A6E9-06 COSM4399447 c.603T>G p.D201E Substitution - Missense 6:110209196-110209196 + TCGA-66-2742-01 COSM739664 c.1125A>T p.V375V Substitution - coding silent 6:110219398-110219398 + TCGA-BS-A0UV-01 COSM1072111 c.1216C>T p.R406* Substitution - Nonsense 6:110219745-110219745 + TCGA-CZ-5451-01 COSM483265 c.449C>A p.A150D Substitution - Missense 6:110207548-110207548 + ESCC-127T COSM3155787 c.1660A>G p.I554V Substitution - Missense 6:110230051-110230051 + Gp2D COSM3155787 c.1660A>G p.I554V Substitution - Missense 6:110230051-110230051 + TCGA-EW-A1PB-01 COSM1487114 c.666G>C p.K222N Substitution - Missense 6:110210742-110210742 + AOCS-104-1-6 COSM739665 c.1044C>T p.L348L Substitution - coding silent 6:110217757-110217757 + TCGA-AP-A056-01 COSM1072109 c.964C>T p.R322W Substitution - Missense 6:110215307-110215307 + TCGA-B5-A0JY-01 COSM1072105 c.346G>A p.E116K Substitution - Missense 6:110201627-110201627 + TCGA-CG-4306-01 COSM3857470 c.1036C>T p.Q346* Substitution - Nonsense 6:110217749-110217749 + TCGA-EE-A2MI-06 COSM3619456 c.1646A>T p.H549L Substitution - Missense 6:110230037-110230037 + PT27 COSM5905658 c.1310C>T p.S437F Substitution - Missense 6:110219839-110219839 + TCGA-A2-A25A-01 COSM1487115 c.869G>T p.G290V Substitution - Missense 6:110213087-110213087 + TCGA-GN-A266-06 COSM3619450 c.745T>C p.Y249H Substitution - Missense 6:110212150-110212150 + TCGA-EU-5906-01 COSM483264 c.67G>A p.D23N Substitution - Missense 6:110180511-110180511 + 8053215 COSM3393762 c.1217G>A p.R406Q Substitution - Missense 6:110219746-110219746 + TCGA-EI-6917-01 COSM3429857 c.1473G>T p.Q491H Substitution - Missense 6:110228887-110228887 + LUAD-RT-S01832 COSM384680 c.808C>T p.P270S Substitution - Missense 6:110212213-110212213 + TCGA-D1-A103-01 COSM1072104 c.317C>T p.A106V Substitution - Missense 6:110201598-110201598 + ESCC_BICR_046T COSM5441982 c.1223G>A p.G408E Substitution - Missense 6:110219752-110219752 + TCGA-BH-A0B6-01 COSM3828790 c.32C>T p.S11F Substitution - Missense 6:110180476-110180476 + SC_9063 COSM5568029 c.924C>T p.S308S Substitution - coding silent 6:110213142-110213142 + Gp5D COSM3155787 c.1660A>G p.I554V Substitution - Missense 6:110230051-110230051 + TCGA-CS-6188-01 COSM3975721 c.802A>G p.T268A Substitution - Missense 6:110212207-110212207 + OSCC-GB_01170111 COSM201092 c.871G>A p.V291I Substitution - Missense 6:110213089-110213089 + HCC99T COSM3662073 c.793C>G p.L265V Substitution - Missense 6:110212198-110212198 + SKCO-1 COSM201092 c.871G>A p.V291I Substitution - Missense 6:110213089-110213089 + sysucc-1317T COSM5450167 c.491-5C>T p.? Unknown 6:110209079-110209079 + pfg228T COSM4760072 c.830C>G p.P277R Substitution - Missense 6:110212235-110212235 + T3152 COSM4670679 c.1029A>G p.A343A Substitution - coding silent 6:110217742-110217742 + ESO-409 COSM1247756 c.132T>G p.P44P Substitution - coding silent 6:110180576-110180576 + 041T COSM1729492 c.1321A>T p.S441C Substitution - Missense 6:110219850-110219850 + T3064 COSM4670681 c.1501A>T p.I501F Substitution - Missense 6:110228915-110228915 + T55 COSM4670677 c.449C>T p.A150V Substitution - Missense 6:110207548-110207548 + LUAD-RT-S01813 COSM383468 c.1091G>C p.G364A Substitution - Missense 6:110219364-110219364 + LP6005334-DNA_B02 COSM5035371 c.1247G>A p.R416Q Substitution - Missense 6:110219776-110219776 + PD10014a COSM5793954 c.281G>C p.G94A Substitution - Missense 6:110201562-110201562 + TCGA-AZ-4315-01 COSM1072105 c.346G>A p.E116K Substitution - Missense 6:110201627-110201627 + TCGA-EV-5903-01 COSM3994549 c.413C>T p.A138V Substitution - Missense 6:110207512-110207512 + STC252 COSM5061334 c.94C>T p.P32S Substitution - Missense 6:110180538-110180538 + CHC2098T COSM4788328 c.515A>G p.Q172R Substitution - Missense 6:110209108-110209108 + TCGA-EE-A2MI-06 COSM3619446 c.211C>T p.H71Y Substitution - Missense 6:110193203-110193203 + TCGA-UB-A7MB-01 COSM4932744 c.402A>G p.T134T Substitution - coding silent 6:110201683-110201683 + pfg122T COSM4760074 c.832A>G p.K278E Substitution - Missense 6:110212237-110212237 + PD4119a COSM159872 c.1577G>T p.G526V Substitution - Missense 6:110229968-110229968 + TCGA-AZ-4315-01 COSM1439725 c.839A>G p.Q280R Substitution - Missense 6:110212244-110212244 + CRC-04T COSM5468462 c.862A>C p.T288P Substitution - Missense 6:110212267-110212267 + YULONE COSM5404152 c.292C>T p.P98S Substitution - Missense 6:110201573-110201573 + TCGA-BR-4362-01 COSM3857467 c.588G>T p.W196C Substitution - Missense 6:110209181-110209181 + TCGA-AZ-4615-01 COSM3697445 c.952G>T p.V318F Substitution - Missense 6:110215295-110215295 + TCGA-CD-A4MG-01 COSM3857472 c.1117C>T p.R373* Substitution - Nonsense 6:110219390-110219390 + 49M COSM5590125 c.1347C>T p.I449I Substitution - coding silent 6:110226173-110226173 + LC_S20 COSM1187131 c.1157A>G p.D386G Substitution - Missense 6:110219430-110219430 + TCGA-BR-7707-01 COSM3857465 c.29C>T p.A10V Substitution - Missense 6:110180473-110180473 + KYSE-150 COSM3155779 c.1279G>C p.V427L Substitution - Missense 6:110219808-110219808 + TCGA-BR-4184-01 COSM3857476 c.1393C>T p.P465S Substitution - Missense 6:110226219-110226219 + TCGA-21-1077-01 COSM739665 c.1044C>T p.L348L Substitution - coding silent 6:110217757-110217757 + TCGA-EJ-5521-01 COSM1132062 c.1349C>T p.P450L Substitution - Missense 6:110226175-110226175 + TCGA-AX-A060-01 COSM1072108 c.874A>G p.S292G Substitution - Missense 6:110213092-110213092 + TCGA-AR-A1AV-01 COSM450322 c.1455C>T p.I485I Substitution - coding silent 6:110228869-110228869 + HCC99 COSM3662073 c.793C>G p.L265V Substitution - Missense 6:110212198-110212198 + TCGA-AP-A0LM-01 COSM1072112 c.1503T>G p.I501M Substitution - Missense 6:110228917-110228917 + LAU63 COSM231996 c.1147C>T p.P383S Substitution - Missense 6:110219420-110219420 + TCGA-AZ-4615-01 COSM3155768 c.672_673insA p.G227fs*18 Insertion - Frameshift 6:110210748-110210749 + BRC30 COSM5026613 c.869G>A p.G290D Substitution - Missense 6:110213087-110213087 + TCGA-AX-A0J1-01 COSM1072110 c.967C>T p.R323C Substitution - Missense 6:110215310-110215310 + RMS2110 COSM5881034 c.755G>T p.R252M Substitution - Missense 6:110212160-110212160 + TCGA-AG-3892-01 COSM256580 c.844C>A p.H282N Substitution - Missense 6:110212249-110212249 + TCGA-AD-5900-01 COSM1439726 c.870C>T p.G290G Substitution - coding silent 6:110213088-110213088 + TCGA-HU-A4GT-01 COSM3857478 c.1508A>G p.K503R Substitution - Missense 6:110228922-110228922 + CHC2098T COSM4788328 c.515A>G p.Q172R Substitution - Missense 6:110209108-110209108 + TCGA-39-5036-01 COSM739661 c.1709G>T p.G570V Substitution - Missense 6:110230100-110230100 + LUAD-E00897 COSM364707 c.959G>A p.G320E Substitution - Missense 6:110215302-110215302 + T3094 COSM4670675 c.225C>T p.A75A Substitution - coding silent 6:110193217-110193217 + PT37 COSM5404152 c.292C>T p.P98S Substitution - Missense 6:110201573-110201573 + ESCC_BICR_045T COSM5441757 c.1684G>C p.E562Q Substitution - Missense 6:110230075-110230075 + sysucc-1838T COSM5763671 c.491-10G>T p.? Unknown 6:110209074-110209074 + HCC2998 COSM1072104 c.317C>T p.A106V Substitution - Missense 6:110201598-110201598 + HCC2998 COSM1072112 c.1503T>G p.I501M Substitution - Missense 6:110228917-110228917 + TCGA-DK-A3WW-01 COSM3777006 c.652G>A p.E218K Substitution - Missense 6:110210728-110210728 + HT115 COSM3155772 c.1128T>G p.P376P Substitution - coding silent 6:110219401-110219401 + TCGA-EE-A2GC-06 COSM3619448 c.247C>T p.P83S Substitution - Missense 6:110193239-110193239 + TCGA-D1-A16X-01 COSM1072107 c.643G>T p.E215* Substitution - Nonsense 6:110210719-110210719 + TCGA-37-4133-01 COSM739662 c.1316A>T p.D439V Substitution - Missense 6:110219845-110219845 + TCGA-AD-6964-01 COSM1439727 c.875G>A p.S292N Substitution - Missense 6:110213093-110213093 + TCGA-CD-8536-01 COSM3857474 c.1246C>T p.R416W Substitution - Missense 6:110219775-110219775 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.428037;Hs.428081;Hs.428082;Hs.428084;Hs.428102;Hs.428111;Hs.428127;Hs.428134;Hs.428147 6q21 605585 604474|dbSNP|BC117145|A/G|non-coding||2919|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.S292G c.874A>G 6 110534295 UCEC A T Missense p.D439V c.1316A>T 6 110541048 LUSC A T Missense p.H549L c.1646A>T 6 110551240 CM A T Synonymous p.V375V c.1125A>T 6 110540601 LUSC C A Missense p.A150D c.449C>A 6 110528751 THCA C A Synonymous p.R416R c.1246C>A 6 110540978 LUSC C T IntronicSNV . c.630+40C>T 6 110530466 UCEC C T Missense p.A466V c.1397C>T 6 110547426 STAD C T Missense p.H71Y c.211C>T 6 110514406 CM C T Missense p.P450L c.1349C>T 6 110547378 PRAD C T Missense p.P83S c.247C>T 6 110514442 CM C T Nonsense p.Q346* c.1036C>T 6 110538952 STAD C T Synonymous p.I485I c.1455C>T 6 110550072 BRCA C T Synonymous p.L348L c.1044C>T 6 110538960 LUSC G A IntronicSNV . c.989-522G>A 6 110538383 CLL G A Missense p.D23N c.67G>A 6 110501714 RCCC G A Missense p.G235R c.703G>A 6 110531982 STAD G A Missense p.G290D c.869G>A 6 110534290 BRCA G A Missense p.V291I c.871G>A 6 110534292 COREAD G C Missense p.K222N c.666G>C 6 110531945 BRCA G T Missense p.D185Y c.553G>T 6 110530349 HNSC G T Missense p.G262V c.785G>T 6 110533393 LGG G T Missense p.G290V c.869G>T 6 110534290 BRCA G T Missense p.G526V c.1577G>T 6 110551171 BRCA G T Missense p.G570V c.1709G>T 6 110551303 LUSC G T Missense p.R129M c.386G>T 6 110522870 LUAD G T Nonsense p.G530* c.1588G>T 6 110551182 LUAD T C 5-UTRSNV . c.1-44T>C 6 110501604 CM TC - Frameshift p.L50Sfs*13 c.148_149delCT 6 110501792 HNSC T G Missense p.I313S c.938T>G 6 110534359 STAD T G Synonymous p.P44P c.132T>G 6 110501779 ESCA