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 1 3547564 3547564 + Missense_Mutation SNP C C A TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr1:3547564C>A c.1358G>T c.(1357-1359)tGc>tTc p.C453F BLCA 1 3547608 3547608 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:3547608G>A c.1314C>T c.(1312-1314)ttC>ttT p.F438F BLCA 1 3548889 3548889 + Silent SNP A A G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr1:3548889A>G c.936T>C c.(934-936)tcT>tcC p.S312S BLCA 1 3555346 3555346 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr1:3555346G>C c.380C>G c.(379-381)tCt>tGt p.S127C BRCA 1 3550035 3550035 + Missense_Mutation SNP C C G TCGA-D8-A27H-01A-11D-A16D-09 TCGA-D8-A27H-10A-01D-A16D-09 g.chr1:3550035C>G c.849G>C c.(847-849)caG>caC p.Q283H BRCA 1 3566551 3566551 + Missense_Mutation SNP C C T TCGA-AR-A1AS-01A-11D-A12Q-09 TCGA-AR-A1AS-10A-01D-A12Q-09 g.chr1:3566551C>T c.13G>A c.(13-15)Gag>Aag p.E5K COAD 1 3547543 3547543 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:3547543G>A c.1379C>T c.(1378-1380)aCg>aTg p.T460M COAD 1 3547635 3547635 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:3547635C>T c.1287G>A c.(1285-1287)tcG>tcA p.S429S COAD 1 3548852 3548852 + Missense_Mutation SNP C C G TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chr1:3548852C>G c.973G>C c.(973-975)Gac>Cac p.D325H COAD 1 3550006 3550006 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:3550006G>A c.878C>T c.(877-879)cCg>cTg p.P293L COAD 1 3551635 3551635 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr1:3551635G>A c.742C>T c.(742-744)Cgc>Tgc p.R248C COAD 1 3552544 3552544 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:3552544G>A c.567C>T c.(565-567)aaC>aaT p.N189N COAD 1 3553617 3553617 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:3553617C>T c.458G>A c.(457-459)cGg>cAg p.R153Q COAD 1 3555382 3555382 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:3555382C>T c.344G>A c.(343-345)cGg>cAg p.R115Q COAD 1 3563259 3563259 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:3563259G>A c.310C>T c.(310-312)Cgc>Tgc p.R104C COAD 1 3564061 3564061 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:3564061A>G c.133T>C c.(133-135)Tac>Cac p.Y45H COADREAD 1 3547543 3547543 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:3547543G>A c.1379C>T c.(1378-1380)aCg>aTg p.T460M COADREAD 1 3547635 3547635 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:3547635C>T c.1287G>A c.(1285-1287)tcG>tcA p.S429S COADREAD 1 3548852 3548852 + Missense_Mutation SNP C C G TCGA-AA-A01D-01A-01W-A00E-09 TCGA-AA-A01D-10A-01W-A00E-09 g.chr1:3548852C>G c.973G>C c.(973-975)Gac>Cac p.D325H COADREAD 1 3550006 3550006 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:3550006G>A c.878C>T c.(877-879)cCg>cTg p.P293L COADREAD 1 3551635 3551635 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr1:3551635G>A c.742C>T c.(742-744)Cgc>Tgc p.R248C COADREAD 1 3552544 3552544 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:3552544G>A c.567C>T c.(565-567)aaC>aaT p.N189N COADREAD 1 3553617 3553617 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:3553617C>T c.458G>A c.(457-459)cGg>cAg p.R153Q COADREAD 1 3555382 3555382 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr1:3555382C>T c.344G>A c.(343-345)cGg>cAg p.R115Q COADREAD 1 3563259 3563259 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:3563259G>A c.310C>T c.(310-312)Cgc>Tgc p.R104C COADREAD 1 3564061 3564061 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr1:3564061A>G c.133T>C c.(133-135)Tac>Cac p.Y45H DLBC 1 3551828 3551828 + Missense_Mutation SNP G G A TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr1:3551828G>A c.634C>T c.(634-636)Cgg>Tgg p.R212W ESCA 1 3548109 3548109 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:3548109C>T c.1161G>A c.(1159-1161)cgG>cgA p.R387R ESCA 1 3553584 3553584 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr1:3553584A>G c.491T>C c.(490-492)gTc>gCc p.V164A GBM 1 3548093 3548093 + Missense_Mutation SNP C C T TCGA-14-0786-01B-01D-1492-08 TCGA-14-0786-10A-01D-1492-08 g.chr1:3548093C>T c.1177G>A c.(1177-1179)Gga>Aga p.G393R GBMLGG 1 3548093 3548093 + Missense_Mutation SNP C C T TCGA-14-0786-01B-01D-1492-08 TCGA-14-0786-10A-01D-1492-08 g.chr1:3548093C>T c.1177G>A c.(1177-1179)Gga>Aga p.G393R GBMLGG 1 3548792 3548792 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:3548792G>T c.1033C>A c.(1033-1035)Ctg>Atg p.L345M GBMLGG 1 3551833 3551833 + Missense_Mutation SNP T T C TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 g.chr1:3551833T>C c.629A>G c.(628-630)gAt>gGt p.D210G GBMLGG 1 3555383 3555383 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:3555383G>A c.343C>T c.(343-345)Cgg>Tgg p.R115W KICH 1 3547644 3547644 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr1:3547644G>A c.1278C>T c.(1276-1278)agC>agT p.S426S KIPAN 1 3547644 3547644 + Silent SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr1:3547644G>A c.1278C>T c.(1276-1278)agC>agT p.S426S KIPAN 1 3564112 3564112 + Nonsense_Mutation SNP G G A TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr1:3564112G>A c.82C>T c.(82-84)Cag>Tag p.Q28* KIRC 1 3564112 3564112 + Nonsense_Mutation SNP G G A TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr1:3564112G>A c.82C>T c.(82-84)Cag>Tag p.Q28* LGG 1 3548792 3548792 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:3548792G>T c.1033C>A c.(1033-1035)Ctg>Atg p.L345M LGG 1 3551833 3551833 + Missense_Mutation SNP T T C TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 g.chr1:3551833T>C c.629A>G c.(628-630)gAt>gGt p.D210G LGG 1 3555383 3555383 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:3555383G>A c.343C>T c.(343-345)Cgg>Tgg p.R115W LIHC 1 3548777 3548777 + Splice_Site SNP C C T TCGA-DD-A1E9-01A-21D-A152-10 TCGA-DD-A1E9-11A-11D-A152-10 g.chr1:3548777C>T c.1048G>A c.(1048-1050)Gac>Aac p.D350N LUAD 1 3548040 3548040 + Silent SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr1:3548040C>T c.1230G>A c.(1228-1230)gtG>gtA p.V410V LUAD 1 3548811 3548811 + Missense_Mutation SNP A A C TCGA-97-A4M3-01A-11D-A24P-08 TCGA-97-A4M3-10A-01D-A24P-08 g.chr1:3548811A>C c.1014T>G c.(1012-1014)ttT>ttG p.F338L LUAD 1 3564093 3564093 + Missense_Mutation SNP C C A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr1:3564093C>A c.101G>T c.(100-102)cGg>cTg p.R34L LUSC 1 3553570 3553570 + Nonsense_Mutation SNP G G A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr1:3553570G>A c.505C>T c.(505-507)Cag>Tag p.Q169* OV 1 3550064 3550064 + Missense_Mutation SNP C C A TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 g.chr1:3550064C>A c.820G>T c.(820-822)Gtg>Ttg p.V274L PAAD 1 3549997 3549998 + Frame_Shift_Ins INS - - C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 g.chr1:3549997_3549998insC c.886_887insG c.(886-888)gccfs p.A296fs PAAD 1 3549997 3549998 + Frame_Shift_Ins INS - - C TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 g.chr1:3549997_3549998insC c.886_887insG c.(886-888)gccfs p.A296fs PAAD 1 3551634 3551634 + Missense_Mutation SNP C C T TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 g.chr1:3551634C>T c.743G>A c.(742-744)cGc>cAc p.R248H PAAD 1 3564022 3564022 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:3564022C>T c.172G>A c.(172-174)Gca>Aca p.A58T PRAD 1 3548112 3548112 + Silent SNP C C T TCGA-XK-AAJA-01A-11D-A41K-08 TCGA-XK-AAJA-10A-01D-A41N-08 g.chr1:3548112C>T c.1158G>A c.(1156-1158)ccG>ccA p.P386P PRAD 1 3551600 3551600 + Silent SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:3551600C>A c.777G>T c.(775-777)acG>acT p.T259T SKCM 1 3548160 3548160 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:3548160G>A c.1110C>T c.(1108-1110)ctC>ctT p.L370L SKCM 1 3551599 3551599 + Missense_Mutation SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr1:3551599C>T c.778G>A c.(778-780)Gag>Aag p.E260K SKCM 1 3551600 3551600 + Silent SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr1:3551600C>T c.777G>A c.(775-777)acG>acA p.T259T SKCM 1 3551604 3551604 + Missense_Mutation SNP A A G TCGA-ER-A19B-06A-11D-A196-08 TCGA-ER-A19B-10A-01D-A198-08 g.chr1:3551604A>G c.773T>C c.(772-774)aTc>aCc p.I258T SKCM 1 3551763 3551763 + Silent SNP G G A TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 g.chr1:3551763G>A c.699C>T c.(697-699)ccC>ccT p.P233P SKCM 1 3566510 3566510 + Silent SNP C C T TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr1:3566510C>T c.54G>A c.(52-54)ccG>ccA p.P18P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 3566551 3566551 single base substitution C T exon_variant BLCA-CN 1 3566551 3566551 single base substitution C T intron_variant BLCA-CN 1 3566551 3566551 single base substitution C T missense_variant E5K 13G>A BLCA-US 1 3542350 3542350 single base substitution G A downstream_gene_variant BLCA-US 1 3544178 3544178 single base substitution G A downstream_gene_variant BLCA-US 1 3547608 3547608 single base substitution G A 3_prime_UTR_variant BLCA-US 1 3547608 3547608 single base substitution G A downstream_gene_variant BLCA-US 1 3547608 3547608 single base substitution G A synonymous_variant F438F 1314C>T BLCA-US 1 3548889 3548889 single base substitution A G downstream_gene_variant BLCA-US 1 3548889 3548889 single base substitution A G exon_variant BLCA-US 1 3548889 3548889 single base substitution A G synonymous_variant S267S 801T>C BLCA-US 1 3548889 3548889 single base substitution A G synonymous_variant S312S 936T>C BRCA-EU 1 3542364 3542364 single base substitution C T downstream_gene_variant BRCA-EU 1 3542365 3542365 single base substitution C T downstream_gene_variant BRCA-EU 1 3545928 3545928 single base substitution A T downstream_gene_variant BRCA-EU 1 3545981 3545981 single base substitution A T downstream_gene_variant BRCA-EU 1 3547542 3547542 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 3547542 3547542 single base substitution C T downstream_gene_variant BRCA-EU 1 3547542 3547542 single base substitution C T synonymous_variant T460T 1380G>A BRCA-EU 1 3549466 3549466 single base substitution C G downstream_gene_variant BRCA-EU 1 3549466 3549466 single base substitution C G exon_variant BRCA-EU 1 3549466 3549466 single base substitution C G intron_variant BRCA-EU 1 3549627 3549627 single base substitution G T downstream_gene_variant BRCA-EU 1 3549627 3549627 single base substitution G T exon_variant BRCA-EU 1 3549627 3549627 single base substitution G T intron_variant BRCA-EU 1 3551621 3551621 single base substitution G A downstream_gene_variant BRCA-EU 1 3551621 3551621 single base substitution G A exon_variant BRCA-EU 1 3551621 3551621 single base substitution G A synonymous_variant H186H 558C>T BRCA-EU 1 3551621 3551621 single base substitution G A synonymous_variant H207H 621C>T BRCA-EU 1 3551621 3551621 single base substitution G A synonymous_variant H252H 756C>T BRCA-EU 1 3553870 3553870 single base substitution C T intron_variant BRCA-EU 1 3553870 3553870 single base substitution C T upstream_gene_variant BRCA-EU 1 3555466 3555466 single base substitution G A exon_variant BRCA-EU 1 3555466 3555466 single base substitution G A intron_variant BRCA-EU 1 3555466 3555466 single base substitution G A upstream_gene_variant BRCA-EU 1 3555476 3555476 single base substitution G A exon_variant BRCA-EU 1 3555476 3555476 single base substitution G A intron_variant BRCA-EU 1 3555476 3555476 single base substitution G A upstream_gene_variant BRCA-EU 1 3556319 3556319 single base substitution G A intron_variant BRCA-EU 1 3556319 3556319 single base substitution G A upstream_gene_variant BRCA-EU 1 3557024 3557024 single base substitution G A intron_variant BRCA-EU 1 3557024 3557024 single base substitution G A upstream_gene_variant BRCA-EU 1 3557205 3557205 single base substitution C A intron_variant BRCA-EU 1 3557205 3557205 single base substitution C A upstream_gene_variant BRCA-EU 1 3557355 3557355 single base substitution C G intron_variant BRCA-EU 1 3557355 3557355 single base substitution C G upstream_gene_variant BRCA-EU 1 3558574 3558574 single base substitution T C intron_variant BRCA-EU 1 3558574 3558574 single base substitution T C upstream_gene_variant BRCA-EU 1 3558749 3558749 single base substitution C T intron_variant BRCA-EU 1 3558749 3558749 single base substitution C T upstream_gene_variant BRCA-EU 1 3561357 3561357 single base substitution A G downstream_gene_variant BRCA-EU 1 3561357 3561357 single base substitution A G intron_variant BRCA-EU 1 3562854 3562854 single base substitution G A downstream_gene_variant BRCA-EU 1 3562854 3562854 single base substitution G A intron_variant BRCA-EU 1 3568044 3568044 single base substitution G A intron_variant BRCA-EU 1 3568044 3568044 single base substitution G A upstream_gene_variant BRCA-EU 1 3568197 3568197 single base substitution C T intron_variant BRCA-EU 1 3568197 3568197 single base substitution C T upstream_gene_variant BRCA-EU 1 3568293 3568293 single base substitution C A intron_variant BRCA-EU 1 3568293 3568293 single base substitution C A upstream_gene_variant BRCA-EU 1 3570459 3570459 single base substitution G A upstream_gene_variant BRCA-EU 1 3572293 3572293 single base substitution A G upstream_gene_variant BRCA-EU 1 3573863 3573863 single base substitution T C upstream_gene_variant BRCA-FR 1 3542364 3542364 single base substitution C T downstream_gene_variant BRCA-UK 1 3561357 3561357 single base substitution A G downstream_gene_variant BRCA-UK 1 3561357 3561357 single base substitution A G intron_variant BRCA-US 1 3545009 3545009 deletion of <=200bp A - downstream_gene_variant BRCA-US 1 3550035 3550035 single base substitution C G downstream_gene_variant BRCA-US 1 3550035 3550035 single base substitution C G exon_variant BRCA-US 1 3550035 3550035 single base substitution C G missense_variant Q238H 714G>C BRCA-US 1 3550035 3550035 single base substitution C G missense_variant Q283H 849G>C BRCA-US 1 3566551 3566551 single base substitution C T exon_variant BRCA-US 1 3566551 3566551 single base substitution C T intron_variant BRCA-US 1 3566551 3566551 single base substitution C T missense_variant E5K 13G>A BTCA-JP 1 3545064 3545064 single base substitution T C downstream_gene_variant BTCA-JP 1 3545176 3545194 deletion of <=200bp TTCTGGGAGCTCCTCCCCC - downstream_gene_variant BTCA-JP 1 3548031 3548031 single base substitution T C downstream_gene_variant BTCA-JP 1 3548031 3548031 single base substitution T C splice_region_variant BTCA-JP 1 3548031 3548031 single base substitution T C synonymous_variant E413E 1239A>G BTCA-JP 1 3549863 3549863 deletion of <=200bp T - downstream_gene_variant BTCA-JP 1 3549863 3549863 deletion of <=200bp T - exon_variant BTCA-JP 1 3549863 3549863 deletion of <=200bp T - intron_variant BTCA-JP 1 3555351 3555351 single base substitution G A exon_variant BTCA-JP 1 3555351 3555351 single base substitution G A synonymous_variant S125S 375C>T BTCA-JP 1 3555351 3555351 single base substitution G A synonymous_variant S59S 177C>T BTCA-JP 1 3555351 3555351 single base substitution G A upstream_gene_variant CLLE-ES 1 3573414 3573414 single base substitution A C upstream_gene_variant COAD-US 1 3544083 3544083 single base substitution C T downstream_gene_variant COAD-US 1 3545159 3545159 single base substitution G T downstream_gene_variant COAD-US 1 3547543 3547543 single base substitution G A 3_prime_UTR_variant COAD-US 1 3547543 3547543 single base substitution G A downstream_gene_variant COAD-US 1 3547543 3547543 single base substitution G A missense_variant T460M 1379C>T COAD-US 1 3547635 3547635 single base substitution C T 3_prime_UTR_variant COAD-US 1 3547635 3547635 single base substitution C T downstream_gene_variant COAD-US 1 3547635 3547635 single base substitution C T synonymous_variant S429S 1287G>A COAD-US 1 3550006 3550006 single base substitution G A downstream_gene_variant COAD-US 1 3550006 3550006 single base substitution G A exon_variant COAD-US 1 3550006 3550006 single base substitution G A missense_variant P248L 743C>T COAD-US 1 3550006 3550006 single base substitution G A missense_variant P293L 878C>T COAD-US 1 3551583 3551583 single base substitution G A downstream_gene_variant COAD-US 1 3551583 3551583 single base substitution G A exon_variant COAD-US 1 3551583 3551583 single base substitution G A missense_variant A199V 596C>T COAD-US 1 3551583 3551583 single base substitution G A missense_variant A220V 659C>T COAD-US 1 3551583 3551583 single base substitution G A missense_variant A265V 794C>T COAD-US 1 3551635 3551635 single base substitution G A downstream_gene_variant COAD-US 1 3551635 3551635 single base substitution G A exon_variant COAD-US 1 3551635 3551635 single base substitution G A missense_variant R182C 544C>T COAD-US 1 3551635 3551635 single base substitution G A missense_variant R203C 607C>T COAD-US 1 3551635 3551635 single base substitution G A missense_variant R248C 742C>T COAD-US 1 3553617 3553617 single base substitution C T exon_variant COAD-US 1 3553617 3553617 single base substitution C T missense_variant R153Q 458G>A COAD-US 1 3553617 3553617 single base substitution C T missense_variant R87Q 260G>A COAD-US 1 3553617 3553617 single base substitution C T upstream_gene_variant COCA-CN 1 3544084 3544084 single base substitution G A downstream_gene_variant COCA-CN 1 3544253 3544253 single base substitution G A downstream_gene_variant COCA-CN 1 3545259 3545259 single base substitution T C downstream_gene_variant COCA-CN 1 3548713 3548713 single base substitution T C downstream_gene_variant COCA-CN 1 3548713 3548713 single base substitution T C exon_variant COCA-CN 1 3548713 3548713 single base substitution T C intron_variant COCA-CN 1 3548895 3548895 single base substitution G A downstream_gene_variant COCA-CN 1 3548895 3548895 single base substitution G A exon_variant COCA-CN 1 3548895 3548895 single base substitution G A synonymous_variant I265I 795C>T COCA-CN 1 3548895 3548895 single base substitution G A synonymous_variant I310I 930C>T COCA-CN 1 3549863 3549863 single base substitution T G downstream_gene_variant COCA-CN 1 3549863 3549863 single base substitution T G exon_variant COCA-CN 1 3549863 3549863 single base substitution T G intron_variant COCA-CN 1 3551674 3551674 single base substitution C T downstream_gene_variant COCA-CN 1 3551674 3551674 single base substitution C T exon_variant COCA-CN 1 3551674 3551674 single base substitution C T intron_variant COCA-CN 1 3551764 3551764 single base substitution G A downstream_gene_variant COCA-CN 1 3551764 3551764 single base substitution G A exon_variant COCA-CN 1 3551764 3551764 single base substitution G A intron_variant COCA-CN 1 3551764 3551764 single base substitution G A missense_variant P167L 500C>T COCA-CN 1 3551764 3551764 single base substitution G A missense_variant P233L 698C>T COCA-CN 1 3552965 3552965 single base substitution A G exon_variant COCA-CN 1 3552965 3552965 single base substitution A G intron_variant COCA-CN 1 3552965 3552965 single base substitution A G upstream_gene_variant COCA-CN 1 3552968 3552968 single base substitution T C exon_variant COCA-CN 1 3552968 3552968 single base substitution T C intron_variant COCA-CN 1 3552968 3552968 single base substitution T C upstream_gene_variant COCA-CN 1 3555407 3555407 single base substitution G T exon_variant COCA-CN 1 3555407 3555407 single base substitution G T intron_variant COCA-CN 1 3555407 3555407 single base substitution G T upstream_gene_variant COCA-CN 1 3557798 3557798 single base substitution C T intron_variant COCA-CN 1 3557798 3557798 single base substitution C T upstream_gene_variant COCA-CN 1 3560932 3560932 single base substitution T C downstream_gene_variant COCA-CN 1 3560932 3560932 single base substitution T C intron_variant COCA-CN 1 3560932 3560932 single base substitution T C upstream_gene_variant COCA-CN 1 3560937 3560937 single base substitution T C downstream_gene_variant COCA-CN 1 3560937 3560937 single base substitution T C intron_variant COCA-CN 1 3560937 3560937 single base substitution T C upstream_gene_variant COCA-CN 1 3561275 3561275 single base substitution T G downstream_gene_variant COCA-CN 1 3561275 3561275 single base substitution T G intron_variant COCA-CN 1 3564201 3564201 single base substitution G A intron_variant COCA-CN 1 3567950 3567950 single base substitution T A intron_variant COCA-CN 1 3567950 3567950 single base substitution T A upstream_gene_variant COCA-CN 1 3571938 3571938 single base substitution G A upstream_gene_variant EOPC-DE 1 3552968 3552968 single base substitution T C exon_variant EOPC-DE 1 3552968 3552968 single base substitution T C intron_variant EOPC-DE 1 3552968 3552968 single base substitution T C upstream_gene_variant EOPC-DE 1 3552985 3552985 single base substitution A G exon_variant EOPC-DE 1 3552985 3552985 single base substitution A G intron_variant EOPC-DE 1 3552985 3552985 single base substitution A G upstream_gene_variant EOPC-DE 1 3552995 3552995 single base substitution A G exon_variant EOPC-DE 1 3552995 3552995 single base substitution A G intron_variant EOPC-DE 1 3552995 3552995 single base substitution A G upstream_gene_variant ESAD-UK 1 3542696 3542696 single base substitution C A downstream_gene_variant ESAD-UK 1 3546900 3546900 single base substitution A G downstream_gene_variant ESAD-UK 1 3549624 3549624 single base substitution C T downstream_gene_variant ESAD-UK 1 3549624 3549624 single base substitution C T exon_variant ESAD-UK 1 3549624 3549624 single base substitution C T intron_variant ESAD-UK 1 3549655 3549655 single base substitution C T downstream_gene_variant ESAD-UK 1 3549655 3549655 single base substitution C T exon_variant ESAD-UK 1 3549655 3549655 single base substitution C T intron_variant ESAD-UK 1 3550232 3550232 single base substitution G A downstream_gene_variant ESAD-UK 1 3550232 3550232 single base substitution G A exon_variant ESAD-UK 1 3550232 3550232 single base substitution G A intron_variant ESAD-UK 1 3551620 3551620 single base substitution C T downstream_gene_variant ESAD-UK 1 3551620 3551620 single base substitution C T exon_variant ESAD-UK 1 3551620 3551620 single base substitution C T missense_variant V187M 559G>A ESAD-UK 1 3551620 3551620 single base substitution C T missense_variant V208M 622G>A ESAD-UK 1 3551620 3551620 single base substitution C T missense_variant V253M 757G>A ESAD-UK 1 3552112 3552124 deletion of <=200bp CTGTGGCTCACGC - exon_variant ESAD-UK 1 3552112 3552124 deletion of <=200bp CTGTGGCTCACGC - intron_variant ESAD-UK 1 3552112 3552124 deletion of <=200bp CTGTGGCTCACGC - upstream_gene_variant ESAD-UK 1 3553416 3553416 single base substitution C T exon_variant ESAD-UK 1 3553416 3553416 single base substitution C T intron_variant ESAD-UK 1 3553416 3553416 single base substitution C T upstream_gene_variant ESAD-UK 1 3559139 3559139 single base substitution T G downstream_gene_variant ESAD-UK 1 3559139 3559139 single base substitution T G intron_variant ESAD-UK 1 3559139 3559139 single base substitution T G upstream_gene_variant ESAD-UK 1 3559663 3559663 single base substitution C T downstream_gene_variant ESAD-UK 1 3559663 3559663 single base substitution C T intron_variant ESAD-UK 1 3559663 3559663 single base substitution C T upstream_gene_variant ESAD-UK 1 3561568 3561568 single base substitution G A downstream_gene_variant ESAD-UK 1 3561568 3561568 single base substitution G A intron_variant ESAD-UK 1 3561867 3561867 single base substitution C A downstream_gene_variant ESAD-UK 1 3561867 3561867 single base substitution C A intron_variant ESAD-UK 1 3565535 3565535 single base substitution G C intron_variant ESAD-UK 1 3566708 3566708 single base substitution T G intron_variant ESAD-UK 1 3566708 3566708 single base substitution T G upstream_gene_variant ESAD-UK 1 3567347 3567347 single base substitution G A intron_variant ESAD-UK 1 3567347 3567347 single base substitution G A upstream_gene_variant ESAD-UK 1 3568567 3568567 single base substitution G A intron_variant ESAD-UK 1 3568567 3568567 single base substitution G A upstream_gene_variant ESAD-UK 1 3569600 3569600 single base substitution C T upstream_gene_variant ESAD-UK 1 3571539 3571539 single base substitution C T upstream_gene_variant ESAD-UK 1 3572470 3572470 single base substitution A G upstream_gene_variant ESAD-UK 1 3573522 3573522 single base substitution A G upstream_gene_variant GBM-US 1 3545150 3545150 single base substitution G A downstream_gene_variant GBM-US 1 3548093 3548093 single base substitution C T downstream_gene_variant GBM-US 1 3548093 3548093 single base substitution C T missense_variant G393R 1177G>A KIRC-US 1 3545080 3545080 single base substitution C T downstream_gene_variant KIRC-US 1 3545158 3545158 single base substitution A G downstream_gene_variant KIRC-US 1 3564112 3564112 single base substitution G A 5_prime_UTR_variant KIRC-US 1 3564112 3564112 single base substitution G A exon_variant KIRC-US 1 3564112 3564112 single base substitution G A stop_gained Q28* 82C>T LAML-KR 1 3548542 3548542 single base substitution T C downstream_gene_variant LAML-KR 1 3548542 3548542 single base substitution T C exon_variant LAML-KR 1 3548542 3548542 single base substitution T C intron_variant LAML-KR 1 3549852 3549852 single base substitution G A downstream_gene_variant LAML-KR 1 3549852 3549852 single base substitution G A exon_variant LAML-KR 1 3549852 3549852 single base substitution G A intron_variant LAML-KR 1 3552886 3552886 single base substitution G A exon_variant LAML-KR 1 3552886 3552886 single base substitution G A intron_variant LAML-KR 1 3552886 3552886 single base substitution G A upstream_gene_variant LICA-FR 1 3555345 3555345 single base substitution A C exon_variant LICA-FR 1 3555345 3555345 single base substitution A C synonymous_variant S127S 381T>G LICA-FR 1 3555345 3555345 single base substitution A C synonymous_variant S61S 183T>G LICA-FR 1 3555345 3555345 single base substitution A C upstream_gene_variant LIHC-US 1 3542442 3542442 single base substitution A G downstream_gene_variant LIHC-US 1 3544159 3544159 single base substitution C G downstream_gene_variant LIHC-US 1 3548777 3548777 single base substitution C T downstream_gene_variant LIHC-US 1 3548777 3548777 single base substitution C T exon_variant LIHC-US 1 3548777 3548777 single base substitution C T missense_variant D350N 1048G>A LIHC-US 1 3548777 3548777 single base substitution C T synonymous_variant ?305 LINC-JP 1 3542350 3542350 single base substitution G A downstream_gene_variant LINC-JP 1 3545021 3545021 single base substitution A T downstream_gene_variant LINC-JP 1 3545176 3545194 deletion of <=200bp TTCTGGGAGCTCCTCCCCC - downstream_gene_variant LINC-JP 1 3549551 3549551 single base substitution T C downstream_gene_variant LINC-JP 1 3549551 3549551 single base substitution T C exon_variant LINC-JP 1 3549551 3549551 single base substitution T C intron_variant LINC-JP 1 3549863 3549863 deletion of <=200bp T - downstream_gene_variant LINC-JP 1 3549863 3549863 deletion of <=200bp T - exon_variant LINC-JP 1 3549863 3549863 deletion of <=200bp T - intron_variant LINC-JP 1 3549863 3549863 insertion of <=200bp - T downstream_gene_variant LINC-JP 1 3549863 3549863 insertion of <=200bp - T exon_variant LINC-JP 1 3549863 3549863 insertion of <=200bp - T intron_variant LINC-JP 1 3563305 3563305 single base substitution G A downstream_gene_variant LINC-JP 1 3563305 3563305 single base substitution G A synonymous_variant D22D 66C>T LINC-JP 1 3563305 3563305 single base substitution G A synonymous_variant D88D 264C>T LIRI-JP 1 3549727 3549727 single base substitution A G downstream_gene_variant LIRI-JP 1 3549727 3549727 single base substitution A G exon_variant LIRI-JP 1 3549727 3549727 single base substitution A G intron_variant LIRI-JP 1 3549964 3549964 single base substitution T G downstream_gene_variant LIRI-JP 1 3549964 3549964 single base substitution T G exon_variant LIRI-JP 1 3549964 3549964 single base substitution T G missense_variant K262T 785A>C LIRI-JP 1 3549964 3549964 single base substitution T G missense_variant K307T 920A>C LIRI-JP 1 3551853 3551853 single base substitution C A exon_variant LIRI-JP 1 3551853 3551853 single base substitution C A intron_variant LIRI-JP 1 3551853 3551853 single base substitution C A missense_variant K137N 411G>T LIRI-JP 1 3551853 3551853 single base substitution C A missense_variant K174N 522G>T LIRI-JP 1 3551853 3551853 single base substitution C A missense_variant K203N 609G>T LIRI-JP 1 3551902 3551902 single base substitution G A exon_variant LIRI-JP 1 3551902 3551902 single base substitution G A intron_variant LIRI-JP 1 3561124 3561124 single base substitution C T downstream_gene_variant LIRI-JP 1 3561124 3561124 single base substitution C T intron_variant LIRI-JP 1 3561124 3561124 single base substitution C T upstream_gene_variant LIRI-JP 1 3565171 3565171 single base substitution T C intron_variant LIRI-JP 1 3565542 3565542 single base substitution G C intron_variant LIRI-JP 1 3571504 3571504 single base substitution G A upstream_gene_variant LUSC-KR 1 3543278 3543278 single base substitution G C downstream_gene_variant LUSC-KR 1 3544243 3544243 single base substitution C T downstream_gene_variant LUSC-KR 1 3560937 3560937 single base substitution T C downstream_gene_variant LUSC-KR 1 3560937 3560937 single base substitution T C intron_variant LUSC-KR 1 3560937 3560937 single base substitution T C upstream_gene_variant LUSC-KR 1 3563593 3563593 single base substitution C T downstream_gene_variant LUSC-KR 1 3563593 3563593 single base substitution C T intron_variant LUSC-KR 1 3566100 3566100 single base substitution C A intron_variant LUSC-KR 1 3566612 3566612 single base substitution C T 5_prime_UTR_variant LUSC-KR 1 3566612 3566612 single base substitution C T exon_variant LUSC-KR 1 3566612 3566612 single base substitution C T intron_variant LUSC-KR 1 3566612 3566612 single base substitution C T upstream_gene_variant LUSC-KR 1 3566710 3566710 single base substitution C G intron_variant LUSC-KR 1 3566710 3566710 single base substitution C G upstream_gene_variant LUSC-US 1 3544178 3544178 single base substitution G T downstream_gene_variant LUSC-US 1 3553570 3553570 single base substitution G A exon_variant LUSC-US 1 3553570 3553570 single base substitution G A stop_gained Q103* 307C>T LUSC-US 1 3553570 3553570 single base substitution G A stop_gained Q169* 505C>T LUSC-US 1 3553570 3553570 single base substitution G A upstream_gene_variant MALY-DE 1 3545176 3545194 deletion of <=200bp TTCTGGGAGCTCCTCCCCC - downstream_gene_variant MALY-DE 1 3548137 3548137 single base substitution G A downstream_gene_variant MALY-DE 1 3548137 3548137 single base substitution G A missense_variant A378V 1133C>T MALY-DE 1 3560132 3560132 insertion of <=200bp - G downstream_gene_variant MALY-DE 1 3560132 3560132 insertion of <=200bp - G intron_variant MALY-DE 1 3560132 3560132 insertion of <=200bp - G upstream_gene_variant MALY-DE 1 3565709 3565709 single base substitution C T intron_variant MALY-DE 1 3571850 3571850 single base substitution C G upstream_gene_variant MALY-DE 1 3573691 3573691 single base substitution G C upstream_gene_variant MALY-DE 1 3573711 3573711 single base substitution A T upstream_gene_variant MELA-AU 1 3542605 3542605 single base substitution C T downstream_gene_variant MELA-AU 1 3547635 3547635 single base substitution C T 3_prime_UTR_variant MELA-AU 1 3547635 3547635 single base substitution C T downstream_gene_variant MELA-AU 1 3547635 3547635 single base substitution C T synonymous_variant S429S 1287G>A MELA-AU 1 3548450 3548450 single base substitution T G downstream_gene_variant MELA-AU 1 3548450 3548450 single base substitution T G exon_variant MELA-AU 1 3548450 3548450 single base substitution T G intron_variant MELA-AU 1 3548860 3548860 single base substitution G A downstream_gene_variant MELA-AU 1 3548860 3548860 single base substitution G A exon_variant MELA-AU 1 3548860 3548860 single base substitution G A missense_variant P277L 830C>T MELA-AU 1 3548860 3548860 single base substitution G A missense_variant P322L 965C>T MELA-AU 1 3548877 3548877 single base substitution G A downstream_gene_variant MELA-AU 1 3548877 3548877 single base substitution G A exon_variant MELA-AU 1 3548877 3548877 single base substitution G A synonymous_variant S271S 813C>T MELA-AU 1 3548877 3548877 single base substitution G A synonymous_variant S316S 948C>T MELA-AU 1 3549022 3549022 single base substitution G A downstream_gene_variant MELA-AU 1 3549022 3549022 single base substitution G A exon_variant MELA-AU 1 3549022 3549022 single base substitution G A intron_variant MELA-AU 1 3549995 3549995 single base substitution C T downstream_gene_variant MELA-AU 1 3549995 3549995 single base substitution C T exon_variant MELA-AU 1 3549995 3549995 single base substitution C T missense_variant G252R 754G>A MELA-AU 1 3549995 3549995 single base substitution C T missense_variant G297R 889G>A MELA-AU 1 3550105 3550105 single base substitution G A downstream_gene_variant MELA-AU 1 3550105 3550105 single base substitution G A exon_variant MELA-AU 1 3550105 3550105 single base substitution G A intron_variant MELA-AU 1 3550611 3550611 single base substitution G A downstream_gene_variant MELA-AU 1 3550611 3550611 single base substitution G A exon_variant MELA-AU 1 3550611 3550611 single base substitution G A intron_variant MELA-AU 1 3550996 3550996 single base substitution G A downstream_gene_variant MELA-AU 1 3550996 3550996 single base substitution G A exon_variant MELA-AU 1 3550996 3550996 single base substitution G A intron_variant MELA-AU 1 3551303 3551303 single base substitution G A downstream_gene_variant MELA-AU 1 3551303 3551303 single base substitution G A exon_variant MELA-AU 1 3551303 3551303 single base substitution G A intron_variant MELA-AU 1 3551304 3551304 single base substitution G A downstream_gene_variant MELA-AU 1 3551304 3551304 single base substitution G A exon_variant MELA-AU 1 3551304 3551304 single base substitution G A intron_variant MELA-AU 1 3551647 3551648 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 3551647 3551648 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 1 3551647 3551648 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 3552609 3552609 single base substitution G A exon_variant MELA-AU 1 3552609 3552609 single base substitution G A intron_variant MELA-AU 1 3552609 3552609 single base substitution G A upstream_gene_variant MELA-AU 1 3552682 3552682 single base substitution T C exon_variant MELA-AU 1 3552682 3552682 single base substitution T C intron_variant MELA-AU 1 3552682 3552682 single base substitution T C upstream_gene_variant MELA-AU 1 3552745 3552745 single base substitution C T exon_variant MELA-AU 1 3552745 3552745 single base substitution C T intron_variant MELA-AU 1 3552745 3552745 single base substitution C T upstream_gene_variant MELA-AU 1 3552889 3552890 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 1 3552889 3552890 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 3552889 3552890 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 3553374 3553374 single base substitution C T exon_variant MELA-AU 1 3553374 3553374 single base substitution C T intron_variant MELA-AU 1 3553374 3553374 single base substitution C T upstream_gene_variant MELA-AU 1 3553549 3553549 single base substitution G A exon_variant MELA-AU 1 3553549 3553549 single base substitution G A intron_variant MELA-AU 1 3553549 3553549 single base substitution G A upstream_gene_variant MELA-AU 1 3553586 3553586 single base substitution G A exon_variant MELA-AU 1 3553586 3553586 single base substitution G A synonymous_variant F163F 489C>T MELA-AU 1 3553586 3553586 single base substitution G A synonymous_variant F97F 291C>T MELA-AU 1 3553586 3553586 single base substitution G A upstream_gene_variant MELA-AU 1 3553656 3553656 single base substitution G A exon_variant MELA-AU 1 3553656 3553656 single base substitution G A missense_variant T140I 419C>T MELA-AU 1 3553656 3553656 single base substitution G A missense_variant T74I 221C>T MELA-AU 1 3553656 3553656 single base substitution G A upstream_gene_variant MELA-AU 1 3553776 3553776 single base substitution G A intron_variant MELA-AU 1 3553776 3553776 single base substitution G A upstream_gene_variant MELA-AU 1 3554164 3554164 single base substitution G A intron_variant MELA-AU 1 3554164 3554164 single base substitution G A upstream_gene_variant MELA-AU 1 3554545 3554545 single base substitution G A intron_variant MELA-AU 1 3554545 3554545 single base substitution G A upstream_gene_variant MELA-AU 1 3556089 3556090 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 3556089 3556090 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 3556089 3556090 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 3556108 3556108 single base substitution C A exon_variant MELA-AU 1 3556108 3556108 single base substitution C A intron_variant MELA-AU 1 3556108 3556108 single base substitution C A upstream_gene_variant MELA-AU 1 3556838 3556838 single base substitution G A intron_variant MELA-AU 1 3556838 3556838 single base substitution G A upstream_gene_variant MELA-AU 1 3556859 3556859 single base substitution G A intron_variant MELA-AU 1 3556859 3556859 single base substitution G A upstream_gene_variant MELA-AU 1 3556967 3556967 single base substitution G A intron_variant MELA-AU 1 3556967 3556967 single base substitution G A upstream_gene_variant MELA-AU 1 3557077 3557077 single base substitution G A intron_variant MELA-AU 1 3557077 3557077 single base substitution G A upstream_gene_variant MELA-AU 1 3557114 3557114 single base substitution G A intron_variant MELA-AU 1 3557114 3557114 single base substitution G A upstream_gene_variant MELA-AU 1 3558054 3558054 single base substitution G A intron_variant MELA-AU 1 3558054 3558054 single base substitution G A upstream_gene_variant MELA-AU 1 3558183 3558183 single base substitution G A intron_variant MELA-AU 1 3558183 3558183 single base substitution G A upstream_gene_variant MELA-AU 1 3558230 3558230 single base substitution G A intron_variant MELA-AU 1 3558230 3558230 single base substitution G A upstream_gene_variant MELA-AU 1 3558423 3558423 single base substitution G A intron_variant MELA-AU 1 3558423 3558423 single base substitution G A upstream_gene_variant MELA-AU 1 3558763 3558763 single base substitution G A intron_variant MELA-AU 1 3558763 3558763 single base substitution G A upstream_gene_variant MELA-AU 1 3559569 3559569 single base substitution G A downstream_gene_variant MELA-AU 1 3559569 3559569 single base substitution G A intron_variant MELA-AU 1 3559569 3559569 single base substitution G A upstream_gene_variant MELA-AU 1 3559698 3559698 single base substitution G A downstream_gene_variant MELA-AU 1 3559698 3559698 single base substitution G A intron_variant MELA-AU 1 3559698 3559698 single base substitution G A upstream_gene_variant MELA-AU 1 3559892 3559892 single base substitution G A downstream_gene_variant MELA-AU 1 3559892 3559892 single base substitution G A intron_variant MELA-AU 1 3559892 3559892 single base substitution G A upstream_gene_variant MELA-AU 1 3560164 3560164 single base substitution G A downstream_gene_variant MELA-AU 1 3560164 3560164 single base substitution G A intron_variant MELA-AU 1 3560164 3560164 single base substitution G A upstream_gene_variant MELA-AU 1 3560938 3560938 single base substitution G A downstream_gene_variant MELA-AU 1 3560938 3560938 single base substitution G A intron_variant MELA-AU 1 3560938 3560938 single base substitution G A upstream_gene_variant MELA-AU 1 3561081 3561081 single base substitution G A downstream_gene_variant MELA-AU 1 3561081 3561081 single base substitution G A intron_variant MELA-AU 1 3561081 3561081 single base substitution G A upstream_gene_variant MELA-AU 1 3561116 3561116 single base substitution A G downstream_gene_variant MELA-AU 1 3561116 3561116 single base substitution A G intron_variant MELA-AU 1 3561116 3561116 single base substitution A G upstream_gene_variant MELA-AU 1 3561186 3561186 single base substitution G A downstream_gene_variant MELA-AU 1 3561186 3561186 single base substitution G A intron_variant MELA-AU 1 3561186 3561186 single base substitution G A upstream_gene_variant MELA-AU 1 3561994 3561994 single base substitution G A downstream_gene_variant MELA-AU 1 3561994 3561994 single base substitution G A intron_variant MELA-AU 1 3562932 3562932 single base substitution C T downstream_gene_variant MELA-AU 1 3562932 3562932 single base substitution C T intron_variant MELA-AU 1 3563046 3563046 single base substitution G A downstream_gene_variant MELA-AU 1 3563046 3563046 single base substitution G A intron_variant MELA-AU 1 3563447 3563447 single base substitution G A downstream_gene_variant MELA-AU 1 3563447 3563447 single base substitution G A intron_variant MELA-AU 1 3563697 3563697 single base substitution G A downstream_gene_variant MELA-AU 1 3563697 3563697 single base substitution G A intron_variant MELA-AU 1 3564721 3564721 single base substitution G A intron_variant MELA-AU 1 3564721 3564722 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 3564987 3564987 single base substitution G A intron_variant MELA-AU 1 3565120 3565120 single base substitution C T intron_variant MELA-AU 1 3566661 3566662 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 3566661 3566662 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 3566662 3566662 single base substitution G A intron_variant MELA-AU 1 3566662 3566662 single base substitution G A upstream_gene_variant MELA-AU 1 3566675 3566675 single base substitution G A intron_variant MELA-AU 1 3566675 3566675 single base substitution G A upstream_gene_variant MELA-AU 1 3566676 3566676 single base substitution G A intron_variant MELA-AU 1 3566676 3566676 single base substitution G A upstream_gene_variant MELA-AU 1 3566681 3566681 single base substitution G A intron_variant MELA-AU 1 3566681 3566681 single base substitution G A upstream_gene_variant MELA-AU 1 3566710 3566710 single base substitution C T intron_variant MELA-AU 1 3566710 3566710 single base substitution C T upstream_gene_variant MELA-AU 1 3566737 3566737 single base substitution C T intron_variant MELA-AU 1 3566737 3566737 single base substitution C T upstream_gene_variant MELA-AU 1 3566748 3566748 single base substitution G A intron_variant MELA-AU 1 3566748 3566748 single base substitution G A upstream_gene_variant MELA-AU 1 3567389 3567389 single base substitution G A intron_variant MELA-AU 1 3567389 3567389 single base substitution G A upstream_gene_variant MELA-AU 1 3567532 3567532 single base substitution C T intron_variant MELA-AU 1 3567532 3567532 single base substitution C T upstream_gene_variant MELA-AU 1 3567542 3567542 single base substitution C T intron_variant MELA-AU 1 3567542 3567542 single base substitution C T upstream_gene_variant MELA-AU 1 3568119 3568119 single base substitution A G intron_variant MELA-AU 1 3568119 3568119 single base substitution A G upstream_gene_variant MELA-AU 1 3568485 3568485 single base substitution G A intron_variant MELA-AU 1 3568485 3568485 single base substitution G A upstream_gene_variant MELA-AU 1 3568561 3568561 single base substitution C T intron_variant MELA-AU 1 3568561 3568561 single base substitution C T upstream_gene_variant MELA-AU 1 3569225 3569225 single base substitution G A intron_variant MELA-AU 1 3569225 3569225 single base substitution G A upstream_gene_variant MELA-AU 1 3569622 3569622 single base substitution C T upstream_gene_variant MELA-AU 1 3570137 3570137 single base substitution C T upstream_gene_variant MELA-AU 1 3570212 3570212 single base substitution T G upstream_gene_variant MELA-AU 1 3570295 3570295 single base substitution G A upstream_gene_variant MELA-AU 1 3570366 3570366 single base substitution C T upstream_gene_variant MELA-AU 1 3570796 3570796 single base substitution C T upstream_gene_variant MELA-AU 1 3570980 3570980 single base substitution C T upstream_gene_variant MELA-AU 1 3571035 3571035 single base substitution C T upstream_gene_variant MELA-AU 1 3571621 3571621 single base substitution A G upstream_gene_variant MELA-AU 1 3571698 3571698 single base substitution C T upstream_gene_variant MELA-AU 1 3571711 3571711 single base substitution G A upstream_gene_variant MELA-AU 1 3571900 3571900 single base substitution G A upstream_gene_variant MELA-AU 1 3571938 3571938 single base substitution G A upstream_gene_variant MELA-AU 1 3572521 3572521 single base substitution C T upstream_gene_variant MELA-AU 1 3573216 3573216 single base substitution G A upstream_gene_variant MELA-AU 1 3573376 3573376 single base substitution G A upstream_gene_variant MELA-AU 1 3573483 3573483 single base substitution G A upstream_gene_variant MELA-AU 1 3573787 3573787 single base substitution G A upstream_gene_variant MELA-AU 1 3573798 3573798 single base substitution G A upstream_gene_variant MELA-AU 1 3573869 3573869 single base substitution C T upstream_gene_variant MELA-AU 1 3573947 3573947 single base substitution C T upstream_gene_variant MELA-AU 1 3573985 3573985 single base substitution C T upstream_gene_variant MELA-AU 1 3574018 3574018 single base substitution C T upstream_gene_variant MELA-AU 1 3574060 3574060 single base substitution C T upstream_gene_variant MELA-AU 1 3574290 3574290 single base substitution G A upstream_gene_variant MELA-AU 1 3574307 3574307 single base substitution T C upstream_gene_variant ORCA-IN 1 3556931 3556931 single base substitution G A intron_variant ORCA-IN 1 3556931 3556931 single base substitution G A upstream_gene_variant OV-AU 1 3548952 3548952 single base substitution C G downstream_gene_variant OV-AU 1 3548952 3548952 single base substitution C G exon_variant OV-AU 1 3548952 3548952 single base substitution C G intron_variant OV-AU 1 3551400 3551400 single base substitution A C downstream_gene_variant OV-AU 1 3551400 3551400 single base substitution A C exon_variant OV-AU 1 3551400 3551400 single base substitution A C intron_variant OV-AU 1 3551414 3551414 single base substitution C T downstream_gene_variant OV-AU 1 3551414 3551414 single base substitution C T exon_variant OV-AU 1 3551414 3551414 single base substitution C T intron_variant OV-AU 1 3552926 3552926 single base substitution A C exon_variant OV-AU 1 3552926 3552926 single base substitution A C intron_variant OV-AU 1 3552926 3552926 single base substitution A C upstream_gene_variant OV-AU 1 3562907 3562907 single base substitution C G downstream_gene_variant OV-AU 1 3562907 3562907 single base substitution C G intron_variant OV-AU 1 3565677 3565677 single base substitution C T intron_variant OV-AU 1 3567201 3567201 single base substitution C A intron_variant OV-AU 1 3567201 3567201 single base substitution C A upstream_gene_variant PACA-AU 1 3547550 3547550 single base substitution C T 3_prime_UTR_variant PACA-AU 1 3547550 3547550 single base substitution C T downstream_gene_variant PACA-AU 1 3547550 3547550 single base substitution C T missense_variant G458S 1372G>A PACA-AU 1 3548451 3548451 single base substitution T G downstream_gene_variant PACA-AU 1 3548451 3548451 single base substitution T G exon_variant PACA-AU 1 3548451 3548451 single base substitution T G intron_variant PACA-AU 1 3548452 3548452 single base substitution T G downstream_gene_variant PACA-AU 1 3548452 3548452 single base substitution T G exon_variant PACA-AU 1 3548452 3548452 single base substitution T G intron_variant PACA-AU 1 3548453 3548453 single base substitution T G downstream_gene_variant PACA-AU 1 3548453 3548453 single base substitution T G exon_variant PACA-AU 1 3548453 3548453 single base substitution T G intron_variant PACA-AU 1 3548454 3548454 single base substitution T G downstream_gene_variant PACA-AU 1 3548454 3548454 single base substitution T G exon_variant PACA-AU 1 3548454 3548454 single base substitution T G intron_variant PACA-AU 1 3551219 3551219 single base substitution C T downstream_gene_variant PACA-AU 1 3551219 3551219 single base substitution C T exon_variant PACA-AU 1 3551219 3551219 single base substitution C T intron_variant PACA-AU 1 3553846 3553846 single base substitution G C intron_variant PACA-AU 1 3553846 3553846 single base substitution G C upstream_gene_variant PACA-AU 1 3559860 3559860 single base substitution A G downstream_gene_variant PACA-AU 1 3559860 3559860 single base substitution A G intron_variant PACA-AU 1 3559860 3559860 single base substitution A G upstream_gene_variant PACA-AU 1 3566950 3566950 single base substitution C A intron_variant PACA-AU 1 3566950 3566950 single base substitution C A upstream_gene_variant PACA-AU 1 3567361 3567361 single base substitution G A intron_variant PACA-AU 1 3567361 3567361 single base substitution G A upstream_gene_variant PACA-AU 1 3571429 3571429 single base substitution G A upstream_gene_variant PACA-AU 1 3573327 3573327 single base substitution A C upstream_gene_variant PACA-CA 1 3544246 3544246 insertion of <=200bp - C downstream_gene_variant PACA-CA 1 3547868 3547868 single base substitution G A 3_prime_UTR_variant PACA-CA 1 3547868 3547868 single base substitution G A downstream_gene_variant PACA-CA 1 3547868 3547868 single base substitution G A intron_variant PACA-CA 1 3554011 3554011 deletion of <=200bp G - intron_variant PACA-CA 1 3554011 3554011 deletion of <=200bp G - upstream_gene_variant PACA-CA 1 3556505 3556505 insertion of <=200bp - A intron_variant PACA-CA 1 3556505 3556505 insertion of <=200bp - A upstream_gene_variant PACA-CA 1 3557119 3557119 single base substitution C G intron_variant PACA-CA 1 3557119 3557119 single base substitution C G upstream_gene_variant PACA-CA 1 3561441 3561441 single base substitution A G downstream_gene_variant PACA-CA 1 3561441 3561441 single base substitution A G intron_variant PACA-CA 1 3564526 3564526 single base substitution C T intron_variant PACA-CA 1 3564578 3564578 single base substitution A G intron_variant PACA-CA 1 3565489 3565489 single base substitution G A intron_variant PACA-CA 1 3565843 3565843 single base substitution C A intron_variant PACA-CA 1 3567264 3567264 single base substitution G A intron_variant PACA-CA 1 3567264 3567264 single base substitution G A upstream_gene_variant PACA-CA 1 3571717 3571717 single base substitution G A upstream_gene_variant PAEN-AU 1 3562060 3562060 single base substitution G C downstream_gene_variant PAEN-AU 1 3562060 3562060 single base substitution G C intron_variant PAEN-AU 1 3562062 3562062 single base substitution C T downstream_gene_variant PAEN-AU 1 3562062 3562062 single base substitution C T intron_variant PAEN-IT 1 3545278 3545278 single base substitution C T downstream_gene_variant PBCA-DE 1 3563907 3563907 deletion of <=200bp A - exon_variant PBCA-DE 1 3563907 3563907 deletion of <=200bp A - intron_variant PRAD-CA 1 3557113 3557113 single base substitution G A intron_variant PRAD-CA 1 3557113 3557113 single base substitution G A upstream_gene_variant PRAD-UK 1 3548711 3548711 single base substitution G A downstream_gene_variant PRAD-UK 1 3548711 3548711 single base substitution G A exon_variant PRAD-UK 1 3548711 3548711 single base substitution G A intron_variant PRAD-UK 1 3551957 3551957 single base substitution C T exon_variant PRAD-UK 1 3551957 3551957 single base substitution C T intron_variant PRAD-UK 1 3560995 3560995 single base substitution G A downstream_gene_variant PRAD-UK 1 3560995 3560995 single base substitution G A intron_variant PRAD-UK 1 3560995 3560995 single base substitution G A upstream_gene_variant RECA-EU 1 3555535 3555535 single base substitution C T exon_variant RECA-EU 1 3555535 3555535 single base substitution C T intron_variant RECA-EU 1 3555535 3555535 single base substitution C T upstream_gene_variant RECA-EU 1 3559591 3559591 single base substitution G C downstream_gene_variant RECA-EU 1 3559591 3559591 single base substitution G C intron_variant RECA-EU 1 3559591 3559591 single base substitution G C upstream_gene_variant RECA-EU 1 3564120 3564120 single base substitution G A 5_prime_UTR_variant RECA-EU 1 3564120 3564120 single base substitution G A exon_variant RECA-EU 1 3564120 3564120 single base substitution G A missense_variant S25F 74C>T RECA-EU 1 3564121 3564121 single base substitution A G 5_prime_UTR_variant RECA-EU 1 3564121 3564121 single base substitution A G exon_variant RECA-EU 1 3564121 3564121 single base substitution A G missense_variant S25P 73T>C RECA-EU 1 3564891 3564891 single base substitution A G intron_variant SKCA-BR 1 3543149 3543149 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 3543692 3543692 single base substitution T A downstream_gene_variant SKCA-BR 1 3543700 3543700 single base substitution C A downstream_gene_variant SKCA-BR 1 3548342 3548342 single base substitution G A downstream_gene_variant SKCA-BR 1 3548342 3548342 single base substitution G A intron_variant SKCA-BR 1 3550497 3550497 single base substitution G A downstream_gene_variant SKCA-BR 1 3550497 3550497 single base substitution G A exon_variant SKCA-BR 1 3550497 3550497 single base substitution G A intron_variant SKCA-BR 1 3552938 3552938 single base substitution A C exon_variant SKCA-BR 1 3552938 3552938 single base substitution A C intron_variant SKCA-BR 1 3552938 3552938 single base substitution A C upstream_gene_variant SKCA-BR 1 3553416 3553417 deletion of <=200bp CG - exon_variant SKCA-BR 1 3553416 3553417 deletion of <=200bp CG - intron_variant SKCA-BR 1 3553416 3553417 deletion of <=200bp CG - upstream_gene_variant SKCA-BR 1 3553419 3553419 single base substitution A T exon_variant SKCA-BR 1 3553419 3553419 single base substitution A T intron_variant SKCA-BR 1 3553419 3553419 single base substitution A T upstream_gene_variant SKCA-BR 1 3555366 3555366 single base substitution G A exon_variant SKCA-BR 1 3555366 3555366 single base substitution G A synonymous_variant S120S 360C>T SKCA-BR 1 3555366 3555366 single base substitution G A synonymous_variant S54S 162C>T SKCA-BR 1 3555366 3555366 single base substitution G A upstream_gene_variant SKCA-BR 1 3557002 3557002 single base substitution G A intron_variant SKCA-BR 1 3557002 3557002 single base substitution G A upstream_gene_variant SKCA-BR 1 3557119 3557119 single base substitution C G intron_variant SKCA-BR 1 3557119 3557119 single base substitution C G upstream_gene_variant SKCA-BR 1 3557139 3557139 single base substitution A C intron_variant SKCA-BR 1 3557139 3557139 single base substitution A C upstream_gene_variant SKCA-BR 1 3557187 3557187 single base substitution G A intron_variant SKCA-BR 1 3557187 3557187 single base substitution G A upstream_gene_variant SKCA-BR 1 3557246 3557246 single base substitution C G intron_variant SKCA-BR 1 3557246 3557246 single base substitution C G upstream_gene_variant SKCA-BR 1 3558398 3558398 single base substitution G A intron_variant SKCA-BR 1 3558398 3558398 single base substitution G A upstream_gene_variant SKCA-BR 1 3559301 3559302 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 1 3559301 3559302 deletion of <=200bp CA - intron_variant SKCA-BR 1 3559301 3559302 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 1 3562107 3562107 single base substitution G A downstream_gene_variant SKCA-BR 1 3562107 3562107 single base substitution G A intron_variant SKCA-BR 1 3563514 3563514 single base substitution A G downstream_gene_variant SKCA-BR 1 3563514 3563514 single base substitution A G intron_variant SKCA-BR 1 3565608 3565608 single base substitution G A intron_variant SKCA-BR 1 3566681 3566681 single base substitution G A intron_variant SKCA-BR 1 3566681 3566681 single base substitution G A upstream_gene_variant SKCA-BR 1 3566705 3566705 single base substitution G A intron_variant SKCA-BR 1 3566705 3566705 single base substitution G A upstream_gene_variant SKCA-BR 1 3566710 3566710 single base substitution C T intron_variant SKCA-BR 1 3566710 3566710 single base substitution C T upstream_gene_variant SKCA-BR 1 3566711 3566711 single base substitution C T intron_variant SKCA-BR 1 3566711 3566711 single base substitution C T upstream_gene_variant SKCA-BR 1 3567140 3567140 single base substitution A G intron_variant SKCA-BR 1 3567140 3567140 single base substitution A G upstream_gene_variant SKCA-BR 1 3568531 3568531 single base substitution A C intron_variant SKCA-BR 1 3568531 3568531 single base substitution A C upstream_gene_variant SKCA-BR 1 3568551 3568551 single base substitution A C intron_variant SKCA-BR 1 3568551 3568551 single base substitution A C upstream_gene_variant SKCA-BR 1 3569173 3569173 single base substitution G A intron_variant SKCA-BR 1 3569173 3569173 single base substitution G A upstream_gene_variant SKCA-BR 1 3569174 3569174 single base substitution G A intron_variant SKCA-BR 1 3569174 3569174 single base substitution G A upstream_gene_variant SKCA-BR 1 3570092 3570092 single base substitution G A upstream_gene_variant SKCA-BR 1 3570605 3570605 single base substitution G A upstream_gene_variant SKCA-BR 1 3572026 3572026 single base substitution C T upstream_gene_variant SKCA-BR 1 3573926 3573926 single base substitution C T upstream_gene_variant SKCM-US 1 3542430 3542430 single base substitution G A downstream_gene_variant SKCM-US 1 3548160 3548160 single base substitution G A downstream_gene_variant SKCM-US 1 3548160 3548160 single base substitution G A synonymous_variant L370L 1110C>T SKCM-US 1 3551604 3551604 single base substitution A G downstream_gene_variant SKCM-US 1 3551604 3551604 single base substitution A G exon_variant SKCM-US 1 3551604 3551604 single base substitution A G missense_variant I192T 575T>C SKCM-US 1 3551604 3551604 single base substitution A G missense_variant I213T 638T>C SKCM-US 1 3551604 3551604 single base substitution A G missense_variant I258T 773T>C SKCM-US 1 3551763 3551763 single base substitution G A downstream_gene_variant SKCM-US 1 3551763 3551763 single base substitution G A exon_variant SKCM-US 1 3551763 3551763 single base substitution G A intron_variant SKCM-US 1 3551763 3551763 single base substitution G A synonymous_variant P167P 501C>T SKCM-US 1 3551763 3551763 single base substitution G A synonymous_variant P233P 699C>T SKCM-US 1 3551793 3551793 single base substitution G A downstream_gene_variant SKCM-US 1 3551793 3551793 single base substitution G A exon_variant SKCM-US 1 3551793 3551793 single base substitution G A intron_variant SKCM-US 1 3551793 3551793 single base substitution G A synonymous_variant S157S 471C>T SKCM-US 1 3551793 3551793 single base substitution G A synonymous_variant S223S 669C>T SKCM-US 1 3566510 3566510 single base substitution C T exon_variant SKCM-US 1 3566510 3566510 single base substitution C T intron_variant SKCM-US 1 3566510 3566510 single base substitution C T synonymous_variant P18P 54G>A STAD-US 1 3545105 3545105 single base substitution T C downstream_gene_variant STAD-US 1 3551767 3551767 single base substitution C T downstream_gene_variant STAD-US 1 3551767 3551767 single base substitution C T exon_variant STAD-US 1 3551767 3551767 single base substitution C T intron_variant STAD-US 1 3551767 3551767 single base substitution C T missense_variant S166N 497G>A STAD-US 1 3551767 3551767 single base substitution C T missense_variant S232N 695G>A STAD-US 1 3552529 3552529 single base substitution T C exon_variant STAD-US 1 3552529 3552529 single base substitution T C intron_variant STAD-US 1 3552529 3552529 single base substitution T C synonymous_variant A128A 384A>G STAD-US 1 3552529 3552529 single base substitution T C synonymous_variant A194A 582A>G STAD-US 1 3552529 3552529 single base substitution T C upstream_gene_variant STAD-US 1 3553603 3553603 single base substitution C T exon_variant STAD-US 1 3553603 3553603 single base substitution C T missense_variant D158N 472G>A STAD-US 1 3553603 3553603 single base substitution C T missense_variant D92N 274G>A STAD-US 1 3553603 3553603 single base substitution C T upstream_gene_variant STAD-US 1 3564057 3564057 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 3564057 3564057 single base substitution G A exon_variant STAD-US 1 3564057 3564057 single base substitution G A missense_variant T46M 137C>T THCA-SA 1 3548136 3548136 single base substitution T C downstream_gene_variant THCA-SA 1 3548136 3548136 single base substitution T C synonymous_variant A378A 1134A>G THCA-US 1 3552584 3552584 single base substitution G A exon_variant THCA-US 1 3552584 3552584 single base substitution G A intron_variant THCA-US 1 3552584 3552584 single base substitution G A missense_variant T110M 329C>T THCA-US 1 3552584 3552584 single base substitution G A missense_variant T176M 527C>T THCA-US 1 3552584 3552584 single base substitution G A upstream_gene_variant UCEC-US 1 3542422 3542422 single base substitution G T downstream_gene_variant UCEC-US 1 3544084 3544084 single base substitution G A downstream_gene_variant UCEC-US 1 3545047 3545047 single base substitution G A downstream_gene_variant UCEC-US 1 3545083 3545083 single base substitution C T downstream_gene_variant UCEC-US 1 3545084 3545084 single base substitution G A downstream_gene_variant UCEC-US 1 3545119 3545119 single base substitution C T downstream_gene_variant UCEC-US 1 3547542 3547542 single base substitution C T 3_prime_UTR_variant UCEC-US 1 3547542 3547542 single base substitution C T downstream_gene_variant UCEC-US 1 3547542 3547542 single base substitution C T synonymous_variant T460T 1380G>A UCEC-US 1 3548007 3548007 single base substitution C T downstream_gene_variant UCEC-US 1 3548007 3548007 single base substitution C T intron_variant UCEC-US 1 3548007 3548007 single base substitution C T synonymous_variant T421T 1263G>A UCEC-US 1 3548011 3548011 insertion of <=200bp - C downstream_gene_variant UCEC-US 1 3548011 3548011 insertion of <=200bp - C frameshift_variant A420A? UCEC-US 1 3548011 3548011 insertion of <=200bp - C intron_variant UCEC-US 1 3550008 3550008 single base substitution C T downstream_gene_variant UCEC-US 1 3550008 3550008 single base substitution C T exon_variant UCEC-US 1 3550008 3550008 single base substitution C T synonymous_variant P247P 741G>A UCEC-US 1 3550008 3550008 single base substitution C T synonymous_variant P292P 876G>A UCEC-US 1 3551759 3551759 single base substitution T A downstream_gene_variant UCEC-US 1 3551759 3551759 single base substitution T A exon_variant UCEC-US 1 3551759 3551759 single base substitution T A intron_variant UCEC-US 1 3551759 3551759 single base substitution T A missense_variant S169C 505A>T UCEC-US 1 3551759 3551759 single base substitution T A missense_variant S235C 703A>T UCEC-US 1 3551827 3551827 single base substitution C T downstream_gene_variant UCEC-US 1 3551827 3551827 single base substitution C T exon_variant UCEC-US 1 3551827 3551827 single base substitution C T intron_variant UCEC-US 1 3551827 3551827 single base substitution C T missense_variant R146Q 437G>A UCEC-US 1 3551827 3551827 single base substitution C T missense_variant R212Q 635G>A UCEC-US 1 3553617 3553617 single base substitution C T exon_variant UCEC-US 1 3553617 3553617 single base substitution C T missense_variant R153Q 458G>A UCEC-US 1 3553617 3553617 single base substitution C T missense_variant R87Q 260G>A UCEC-US 1 3553617 3553617 single base substitution C T upstream_gene_variant UCEC-US 1 3563305 3563305 single base substitution G A downstream_gene_variant UCEC-US 1 3563305 3563305 single base substitution G A synonymous_variant D22D 66C>T UCEC-US 1 3563305 3563305 single base substitution G A synonymous_variant D88D 264C>T UCEC-US 1 3564031 3564031 single base substitution C T 5_prime_UTR_variant UCEC-US 1 3564031 3564031 single base substitution C T exon_variant UCEC-US 1 3564031 3564031 single base substitution C T missense_variant E55K 163G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand B90-Tumor COSM426154 c.13G>A p.E5K Substitution - Missense 1:3649987-3649987 - Gp2D COSM2080080 c.682T>C p.S228P Substitution - Missense 1:3635216-3635216 - BD124T COSM5491007 c.375C>T p.S125S Substitution - coding silent 1:3638787-3638787 - BN28T COSM1602271 c.1179A>T p.G393G Substitution - coding silent 1:3631527-3631527 - TCGA-BR-6452-01 COSM4007333 c.582A>G p.A194A Substitution - coding silent 1:3635965-3635965 - LUAD-CHTN-MAD06-00678 COSM360675 c.1148C>G p.P383R Substitution - Missense 1:3631558-3631558 - TCGA-G4-6586-01 COSM1342119 c.1379C>T p.T460M Substitution - Missense 1:3630979-3630979 - HCC174 COSM908653 c.264C>T p.D88D Substitution - coding silent 1:3646741-3646741 - C0012T COSM4165170 c.73T>C p.S25P Substitution - Missense 1:3647557-3647557 - TCGA-D1-A174-01 COSM908634 c.876G>A p.P292P Substitution - coding silent 1:3633444-3633444 - PD11343a COSM2080077 c.756C>T p.H252H Substitution - coding silent 1:3635057-3635057 - CSCC-19-T COSM4564315 c.1123_1124CC>TT p.P375L Substitution - Missense 1:3631582-3631583 - BCM275T COSM4951855 c.381T>G p.S127S Substitution - coding silent 1:3638781-3638781 - C0012T COSM4165169 c.74C>T p.S25F Substitution - Missense 1:3647556-3647556 - 8067180 COSM3771745 c.1372G>A p.G458S Substitution - Missense 1:3630986-3630986 - PA167 COSM1162519 c.276C>T p.A92A Substitution - coding silent 1:3646729-3646729 - SNUH_G45_S1 COSM3997492 c.670C>T p.L224L Substitution - coding silent 1:3635228-3635228 - TCGA-B5-A11Y-01 COSM908618 c.1380G>A p.T460T Substitution - coding silent 1:3630978-3630978 - 113368 COSM326878 c.241C>G p.P81A Substitution - Missense 1:3646764-3646764 - TCGA-BS-A0UV-01 COSM908653 c.264C>T p.D88D Substitution - coding silent 1:3646741-3646741 - TCGA-BR-4361-01 COSM4007339 c.137C>T p.T46M Substitution - Missense 1:3647493-3647493 - 587222 COSM1232662 c.165G>T p.E55D Substitution - Missense 1:3647465-3647465 - TCGA-G2-A2ES-01 COSM1296335 c.936T>C p.S312S Substitution - coding silent 1:3632325-3632325 - RK170_C01 COSM1627034 c.920A>C p.K307T Substitution - Missense 1:3633400-3633400 - CSCC-49-T COSM4494612 c.436C>G p.R146G Substitution - Missense 1:3637075-3637075 - TCGA-D1-A0ZN-01 COSM908635 c.703A>T p.S235C Substitution - Missense 1:3635195-3635195 - HDC87 COSM4636908 c.932C>T p.A311V Substitution - Missense 1:3632329-3632329 - TCGA-DD-A1E9-01 COSM4912370 c.1048G>A p.D350N Substitution - Missense 1:3632213-3632213 - Capan-1 COSM328032 c.923-9G>A p.? Unknown 1:3632347-3632347 - 587332 COSM1232664 c.1066G>A p.V356I Substitution - Missense 1:3631640-3631640 - T613 COSM3689635 c.794C>T p.A265V Substitution - Missense 1:3635019-3635019 - BCM275T COSM4951855 c.381T>G p.S127S Substitution - coding silent 1:3638781-3638781 - I2L-P6-Tumor-Organoid COSM5353468 c.559G>T p.A187S Substitution - Missense 1:3635988-3635988 - PT13 COSM5895545 c.307G>A p.G103R Substitution - Missense 1:3646698-3646698 - TCGA-DI-A0WH-01 COSM908632 c.1010C>T p.A337V Substitution - Missense 1:3632251-3632251 - TCGA-EJ-7125-01 COSM3671734 c.1043G>T p.R348M Substitution - Missense 1:3632218-3632218 - I2L-P28-Tumor-Biopsy COSM2080150 c.243C>T p.P81P Substitution - coding silent 1:3646762-3646762 - TCGA-AA-3710-01 COSM293588 c.567C>T p.N189N Substitution - coding silent 1:3635980-3635980 - TCGA-AA-A01D-01 COSM299810 c.973G>C p.D325H Substitution - Missense 1:3632288-3632288 - LC_C6 COSM1185280 c.925G>A p.E309K Substitution - Missense 1:3632336-3632336 - TCGA-A6-6781-01 COSM1342121 c.878C>T p.P293L Substitution - Missense 1:3633442-3633442 - BD246T COSM5496010 c.1239A>G p.E413E Substitution - coding silent 1:3631467-3631467 - TCGA-D5-6928-01 COSM908637 c.458G>A p.R153Q Substitution - Missense 1:3637053-3637053 - CSCC-20-T COSM4552080 c.548G>A p.G183E Substitution - Missense 1:3635999-3635999 - TCGA-AZ-6598-01 COSM1342120 c.1287G>A p.S429S Substitution - coding silent 1:3631071-3631071 - TCGA-DK-A1AC-01 COSM1296332 c.1314C>T p.F438F Substitution - coding silent 1:3631044-3631044 - S01516 COSM5668932 c.883C>T p.R295W Substitution - Missense 1:3633437-3633437 - TCGA-FS-A1ZR-06 COSM3488866 c.699C>T p.P233P Substitution - coding silent 1:3635199-3635199 - 545 COSM5612876 c.987G>A p.P329P Substitution - coding silent 1:3632274-3632274 - RK145_C01 COSM3700714 c.609G>T p.K203N Substitution - Missense 1:3635289-3635289 - SJHGG034_D COSM4970645 c.514C>T p.R172W Substitution - Missense 1:3636997-3636997 - tumor_4112512 COSM3774459 c.1133C>T p.A378V Substitution - Missense 1:3631573-3631573 - PT13 COSM5895544 c.308G>A p.G103E Substitution - Missense 1:3646697-3646697 - TCGA-FE-A3PC-01 COSM3369723 c.527C>T p.T176M Substitution - Missense 1:3636020-3636020 - S02378 COSM5697404 c.510C>T p.L170L Substitution - coding silent 1:3637001-3637001 - TCGA-EE-A2MR-06 COSM2080051 c.1110C>T p.L370L Substitution - coding silent 1:3631596-3631596 - TCGA-G4-6320-01 COSM3689635 c.794C>T p.A265V Substitution - Missense 1:3635019-3635019 - sysucc-882T COSM5447072 c.698C>T p.P233L Substitution - Missense 1:3635200-3635200 - LUAD-LIP77 COSM342350 c.83A>G p.Q28R Substitution - Missense 1:3647547-3647547 - TCGA-D1-A15X-01 COSM908636 c.635G>A p.R212Q Substitution - Missense 1:3635263-3635263 - LUAD-NYU160 COSM370345 c.1143G>A p.W381* Substitution - Nonsense 1:3631563-3631563 - S00501 COSM316555 c.815T>C p.I272T Substitution - Missense 1:3634998-3634998 - TCGA-AA-3672-01 COSM267762 c.344G>A p.R115Q Substitution - Missense 1:3638818-3638818 - SJBALL020877_D1 COSM4993870 c.1209G>A p.A403A Substitution - coding silent 1:3631497-3631497 - TCGA-14-0786-01 COSM3400711 c.1177G>A p.G393R Substitution - Missense 1:3631529-3631529 - T207 COSM2080150 c.243C>T p.P81P Substitution - coding silent 1:3646762-3646762 - TCGA-CZ-5457-01 COSM464491 c.82C>T p.Q28* Substitution - Nonsense 1:3647548-3647548 - B90 COSM426154 c.13G>A p.E5K Substitution - Missense 1:3649987-3649987 - 587278 COSM1232663 c.1111G>A p.E371K Substitution - Missense 1:3631595-3631595 - Gp5D COSM2080080 c.682T>C p.S228P Substitution - Missense 1:3635216-3635216 - SC_9047 COSM5555304 c.994G>T p.G332C Substitution - Missense 1:3632267-3632267 - S00501 COSM316555 c.815T>C p.I272T Substitution - Missense 1:3634998-3634998 - TCGA-61-1904-01 COSM1321120 c.820G>T p.V274L Substitution - Missense 1:3633500-3633500 - TCGA-RP-A694-06 COSM4894121 c.54G>A p.P18P Substitution - coding silent 1:3649946-3649946 - TLE57 COSM4167692 c.404G>A p.C135Y Substitution - Missense 1:3638758-3638758 - TCGA-ER-A19B-06 COSM3865450 c.773T>C p.I258T Substitution - Missense 1:3635040-3635040 - TCGA-AP-A0LM-01 COSM908637 c.458G>A p.R153Q Substitution - Missense 1:3637053-3637053 - TCGA-F4-6856-01 COSM1342122 c.742C>T p.R248C Substitution - Missense 1:3635071-3635071 - 46M COSM5589365 c.108G>A p.V36V Substitution - coding silent 1:3647522-3647522 - 2293776 COSM4607441 c.765G>T p.W255C Substitution - Missense 1:3635048-3635048 - 587376 COSM1232665 c.224T>C p.V75A Substitution - Missense 1:3646781-3646781 - C086 COSM5541801 c.711C>T p.F237F Substitution - coding silent 1:3635187-3635187 - HCC174T COSM908653 c.264C>T p.D88D Substitution - coding silent 1:3646741-3646741 - TCGA-EB-A431-01 COSM3488867 c.669C>T p.S223S Substitution - coding silent 1:3635229-3635229 - LUAD-RT-S01831 COSM384174 c.309G>T p.G103G Substitution - coding silent 1:3646696-3646696 - S02279 COSM5683464 c.307G>T p.G103W Substitution - Missense 1:3646698-3646698 - TCGA-CD-5801-01 COSM4007334 c.472G>A p.D158N Substitution - Missense 1:3637039-3637039 - TCGA-AP-A0LM-01 COSM908654 c.163G>A p.E55K Substitution - Missense 1:3647467-3647467 - TCGA-D8-A27H-01 COSM1473921 c.849G>C p.Q283H Substitution - Missense 1:3633471-3633471 - TCGA-18-3415-01 COSM680970 c.505C>T p.Q169* Substitution - Nonsense 1:3637006-3637006 - TCGA-AR-A1AS-01 COSM426154 c.13G>A p.E5K Substitution - Missense 1:3649987-3649987 - 587222 COSM1232661 c.343C>T p.R115W Substitution - Missense 1:3638819-3638819 - TCGA-CG-4465-01 COSM4007332 c.695G>A p.S232N Substitution - Missense 1:3635203-3635203 - H1155 COSM1195423 c.725G>A p.S242N Substitution - Missense 1:3635173-3635173 - I2L-P6-Tumor-Biopsy COSM5353468 c.559G>T p.A187S Substitution - Missense 1:3635988-3635988 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.31714 1p36.3 606040 2452672|CGAP|BC086311|A/G|coding|Ala378Ala|1214|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I258T c.773T>C 1 3551604 CM A G Missense p.I272T c.815T>C 1 3551562 SCLC A G Synonymous p.S312S c.936T>C 1 3548889 BLCA CC TT Missense p.E260K c.777_778delinsAA 1 3551599 CM C G Missense p.D325H c.973G>C 1 3548852 COREAD C G Missense p.Q283H c.849G>C 1 3550035 BRCA - C IntronicInsertion . c.1240+18dupG 1 3548012 UCEC C T CdsStopSNV . c.1380G>A 1 3547542 UCEC C T IntronicSNV . c.1048+83G>A 1 3548694 CM C T IntronicSNV . c.1241-163G>A 1 3547844 CM C T IntronicSNV . c.340-116G>A 1 3555502 CM C T Missense p.C135Y c.404G>A 1 3555322 ALL C T Missense p.D158N c.472G>A 1 3553603 STAD C T Missense p.E5K c.13G>A 1 3566551 BRCA C T Missense p.G393R c.1177G>A 1 3548093 GBM C T Missense p.S232N c.695G>A 1 3551767 STAD C T Synonymous p.P292P c.876G>A 1 3550008 UCEC G A IntronicSNV . c.516+53C>T 1 3553506 CM G A Missense p.T176M c.527C>T 1 3552584 THCA G A Nonsense p.Q169* c.505C>T 1 3553570 LUSC G A Nonsense p.Q28* c.82C>T 1 3564112 RCCC G A Synonymous p.A187A c.561C>T 1 3552550 CM G A Synonymous p.P233P c.699C>T 1 3551763 CM G C Missense p.P81A c.241C>G 1 3563328 SCLC G - IntronicDeletion . c.517-13delC 1 3552607 STAD T A Missense p.S235C c.703A>T 1 3551759 UCEC T C Missense p.T117A c.349A>G 1 3555377 LUAD