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 5 126214081 126214081 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr5:126214081C>T c.399G>A c.(397-399)ctG>ctA p.L133L BRCA 5 126213929 126213929 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 g.chr5:126213929C>G c.551G>C c.(550-552)gGa>gCa p.G184A CESC 5 126214052 126214052 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 g.chr5:126214052C>T c.428G>A c.(427-429)cGg>cAg p.R143Q COAD 5 126213943 126213943 + Silent SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:126213943C>T c.537G>A c.(535-537)cgG>cgA p.R179R COAD 5 126250631 126250631 + Silent SNP C C T TCGA-AA-3685-01A-02W-0900-09 TCGA-AA-3685-10A-01W-0900-09 g.chr5:126250631C>T c.384G>A c.(382-384)ccG>ccA p.P128P COAD 5 126250723 126250723 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr5:126250723G>A c.292C>T c.(292-294)Cgg>Tgg p.R98W COADREAD 5 126213943 126213943 + Silent SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr5:126213943C>T c.537G>A c.(535-537)cgG>cgA p.R179R COADREAD 5 126250631 126250631 + Silent SNP C C T TCGA-AA-3685-01A-02W-0900-09 TCGA-AA-3685-10A-01W-0900-09 g.chr5:126250631C>T c.384G>A c.(382-384)ccG>ccA p.P128P COADREAD 5 126250723 126250723 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr5:126250723G>A c.292C>T c.(292-294)Cgg>Tgg p.R98W HNSC 5 126206380 126206380 + Missense_Mutation SNP G G A TCGA-UF-A719-01A-12D-A34J-08 TCGA-UF-A719-10A-01D-A34M-08 g.chr5:126206380G>A c.707C>T c.(706-708)cCg>cTg p.P236L HNSC 5 126206381 126206381 + Missense_Mutation SNP G G C TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 g.chr5:126206381G>C c.706C>G c.(706-708)Ccg>Gcg p.P236A HNSC 5 126250792 126250792 + Frame_Shift_Del DEL G G - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr5:126250792delG c.223delC c.(223-225)cacfs p.H75fs KIPAN 5 126253785 126253785 + Missense_Mutation SNP C C G TCGA-UZ-A9PV-01A-11D-A42J-10 TCGA-UZ-A9PV-10A-01D-A42M-10 g.chr5:126253785C>G c.79G>C c.(79-81)Gtg>Ctg p.V27L KIRP 5 126253785 126253785 + Missense_Mutation SNP C C G TCGA-UZ-A9PV-01A-11D-A42J-10 TCGA-UZ-A9PV-10A-01D-A42M-10 g.chr5:126253785C>G c.79G>C c.(79-81)Gtg>Ctg p.V27L LUAD 5 126214019 126214019 + Missense_Mutation SNP A A T TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr5:126214019A>T c.461T>A c.(460-462)tTt>tAt p.F154Y LUAD 5 126250695 126250695 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 g.chr5:126250695G>A c.320C>T c.(319-321)tCc>tTc p.S107F LUAD 5 126250704 126250704 + Missense_Mutation SNP C C A TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr5:126250704C>A c.311G>T c.(310-312)tGg>tTg p.W104L OV 5 126213925 126213925 + Silent SNP C C G TCGA-61-1906-01A-01W-0639-09 TCGA-61-1906-11A-01W-0640-09 g.chr5:126213925C>G c.555G>C c.(553-555)ctG>ctC p.L185L PRAD 5 126250790 126250790 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:126250790G>A c.225C>T c.(223-225)caC>caT p.H75H SKCM 5 126206349 126206349 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr5:126206349C>T c.738G>A c.(736-738)agG>agA p.R246R SKCM 5 126206432 126206432 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr5:126206432G>A c.655C>T c.(655-657)Cag>Tag p.Q219* SKCM 5 126213904 126213904 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr5:126213904G>A c.576C>T c.(574-576)ctC>ctT p.L192L SKCM 5 126250785 126250785 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr5:126250785C>T c.230G>A c.(229-231)gGc>gAc p.G77D

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 5 126214081 126214081 single base substitution C T exon_variant BLCA-US 5 126214081 126214081 single base substitution C T synonymous_variant L133L 399G>A BOCA-FR 5 126347981 126347981 single base substitution A T intron_variant BOCA-FR 5 126368456 126368456 single base substitution G T upstream_gene_variant BRCA-EU 5 126198965 126198968 deletion of <=200bp ACTG - downstream_gene_variant BRCA-EU 5 126198968 126198968 single base substitution G A downstream_gene_variant BRCA-EU 5 126199425 126199425 single base substitution G T downstream_gene_variant BRCA-EU 5 126200628 126200628 single base substitution A T downstream_gene_variant BRCA-EU 5 126202733 126202733 single base substitution G A downstream_gene_variant BRCA-EU 5 126204847 126204847 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 126204847 126204847 single base substitution G A downstream_gene_variant BRCA-EU 5 126206121 126206121 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 126206121 126206121 single base substitution T C exon_variant BRCA-EU 5 126208003 126208003 single base substitution C T intron_variant BRCA-EU 5 126208501 126208501 single base substitution G A intron_variant BRCA-EU 5 126208547 126208547 insertion of <=200bp - T intron_variant BRCA-EU 5 126209997 126209997 single base substitution C T intron_variant BRCA-EU 5 126211263 126211263 single base substitution G A intron_variant BRCA-EU 5 126214412 126214412 single base substitution T C intron_variant BRCA-EU 5 126214412 126214412 single base substitution T C upstream_gene_variant BRCA-EU 5 126214511 126214511 single base substitution C G intron_variant BRCA-EU 5 126214511 126214511 single base substitution C G upstream_gene_variant BRCA-EU 5 126215202 126215202 single base substitution G C intron_variant BRCA-EU 5 126215202 126215202 single base substitution G C upstream_gene_variant BRCA-EU 5 126217399 126217399 single base substitution C A intron_variant BRCA-EU 5 126217399 126217399 single base substitution C A upstream_gene_variant BRCA-EU 5 126217462 126217462 single base substitution T C intron_variant BRCA-EU 5 126217462 126217462 single base substitution T C upstream_gene_variant BRCA-EU 5 126221202 126221202 single base substitution T C intron_variant BRCA-EU 5 126222546 126222546 single base substitution C G intron_variant BRCA-EU 5 126224017 126224017 single base substitution C T intron_variant BRCA-EU 5 126224126 126224126 single base substitution C T intron_variant BRCA-EU 5 126224685 126224685 single base substitution G C intron_variant BRCA-EU 5 126228515 126228515 single base substitution T A intron_variant BRCA-EU 5 126231706 126231706 single base substitution C T downstream_gene_variant BRCA-EU 5 126231706 126231706 single base substitution C T intron_variant BRCA-EU 5 126231784 126231784 single base substitution C T downstream_gene_variant BRCA-EU 5 126231784 126231784 single base substitution C T intron_variant BRCA-EU 5 126239346 126239346 single base substitution C G intron_variant BRCA-EU 5 126242051 126242051 single base substitution G T intron_variant BRCA-EU 5 126244141 126244141 single base substitution C G intron_variant BRCA-EU 5 126244533 126244533 single base substitution C T intron_variant BRCA-EU 5 126245579 126245579 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 126245579 126245579 deletion of <=200bp A - intron_variant BRCA-EU 5 126246646 126246646 single base substitution C T downstream_gene_variant BRCA-EU 5 126246646 126246646 single base substitution C T intron_variant BRCA-EU 5 126246675 126246675 single base substitution G A downstream_gene_variant BRCA-EU 5 126246675 126246675 single base substitution G A intron_variant BRCA-EU 5 126247937 126247937 insertion of <=200bp - G downstream_gene_variant BRCA-EU 5 126247937 126247937 insertion of <=200bp - G intron_variant BRCA-EU 5 126248030 126248030 single base substitution G A downstream_gene_variant BRCA-EU 5 126248030 126248030 single base substitution G A intron_variant BRCA-EU 5 126248074 126248074 single base substitution G A downstream_gene_variant BRCA-EU 5 126248074 126248074 single base substitution G A intron_variant BRCA-EU 5 126248220 126248238 deletion of <=200bp TAACACTAATCTTAATCCT - downstream_gene_variant BRCA-EU 5 126248220 126248238 deletion of <=200bp TAACACTAATCTTAATCCT - intron_variant BRCA-EU 5 126248272 126248272 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 126248272 126248272 deletion of <=200bp A - intron_variant BRCA-EU 5 126248876 126248876 single base substitution A G downstream_gene_variant BRCA-EU 5 126248876 126248876 single base substitution A G intron_variant BRCA-EU 5 126250085 126250085 single base substitution T A downstream_gene_variant BRCA-EU 5 126250085 126250085 single base substitution T A intron_variant BRCA-EU 5 126252002 126252002 single base substitution C G intron_variant BRCA-EU 5 126252002 126252002 single base substitution C G upstream_gene_variant BRCA-EU 5 126253384 126253384 single base substitution G A intron_variant BRCA-EU 5 126253384 126253384 single base substitution G A upstream_gene_variant BRCA-EU 5 126253473 126253473 single base substitution G C intron_variant BRCA-EU 5 126253473 126253473 single base substitution G C upstream_gene_variant BRCA-EU 5 126256496 126256496 single base substitution A C intron_variant BRCA-EU 5 126256496 126256496 single base substitution A C upstream_gene_variant BRCA-EU 5 126256505 126256505 single base substitution C G intron_variant BRCA-EU 5 126256505 126256505 single base substitution C G upstream_gene_variant BRCA-EU 5 126256730 126256730 single base substitution G A intron_variant BRCA-EU 5 126256730 126256730 single base substitution G A upstream_gene_variant BRCA-EU 5 126259492 126259492 single base substitution A G intron_variant BRCA-EU 5 126259618 126259618 single base substitution C T intron_variant BRCA-EU 5 126259634 126259634 single base substitution C T intron_variant BRCA-EU 5 126260102 126260102 deletion of <=200bp A - intron_variant BRCA-EU 5 126260109 126260109 single base substitution A G intron_variant BRCA-EU 5 126260578 126260578 single base substitution C A intron_variant BRCA-EU 5 126260752 126260752 single base substitution C G intron_variant BRCA-EU 5 126261170 126261170 single base substitution C A intron_variant BRCA-EU 5 126261943 126261943 single base substitution C G intron_variant BRCA-EU 5 126263206 126263206 single base substitution G C intron_variant BRCA-EU 5 126263689 126263689 deletion of <=200bp A - intron_variant BRCA-EU 5 126264177 126264177 deletion of <=200bp T - intron_variant BRCA-EU 5 126264186 126264186 single base substitution A T intron_variant BRCA-EU 5 126264693 126264693 single base substitution C T intron_variant BRCA-EU 5 126265558 126265558 single base substitution T C intron_variant BRCA-EU 5 126266001 126266001 single base substitution C T intron_variant BRCA-EU 5 126266424 126266424 single base substitution A T intron_variant BRCA-EU 5 126266726 126266726 single base substitution T A intron_variant BRCA-EU 5 126266821 126266821 single base substitution G A intron_variant BRCA-EU 5 126268275 126268275 single base substitution G T intron_variant BRCA-EU 5 126269221 126269221 single base substitution C T intron_variant BRCA-EU 5 126269448 126269448 single base substitution C G intron_variant BRCA-EU 5 126269865 126269865 insertion of <=200bp - TTAT intron_variant BRCA-EU 5 126270175 126270175 single base substitution C T intron_variant BRCA-EU 5 126271266 126271266 single base substitution A G intron_variant BRCA-EU 5 126271774 126271774 single base substitution G A intron_variant BRCA-EU 5 126273575 126273575 insertion of <=200bp - A intron_variant BRCA-EU 5 126276400 126276400 single base substitution A G intron_variant BRCA-EU 5 126277568 126277568 single base substitution C T intron_variant BRCA-EU 5 126278854 126278854 single base substitution C T intron_variant BRCA-EU 5 126283648 126283648 single base substitution C T intron_variant BRCA-EU 5 126284361 126284361 single base substitution C T intron_variant BRCA-EU 5 126285674 126285674 single base substitution G T intron_variant BRCA-EU 5 126287973 126287973 single base substitution G T intron_variant BRCA-EU 5 126291356 126291356 deletion of <=200bp T - intron_variant BRCA-EU 5 126291404 126291404 deletion of <=200bp T - intron_variant BRCA-EU 5 126294381 126294381 single base substitution T A intron_variant BRCA-EU 5 126294382 126294382 single base substitution A T intron_variant BRCA-EU 5 126294524 126294524 single base substitution A G intron_variant BRCA-EU 5 126295020 126295020 single base substitution G A intron_variant BRCA-EU 5 126295145 126295145 single base substitution C A intron_variant BRCA-EU 5 126299287 126299287 single base substitution G C intron_variant BRCA-EU 5 126300997 126300997 single base substitution T A intron_variant BRCA-EU 5 126301463 126301463 single base substitution G T intron_variant BRCA-EU 5 126301859 126301859 single base substitution T C intron_variant BRCA-EU 5 126302388 126302388 single base substitution A T intron_variant BRCA-EU 5 126302937 126302937 single base substitution C A intron_variant BRCA-EU 5 126304878 126304878 single base substitution C G intron_variant BRCA-EU 5 126304939 126304939 single base substitution T C intron_variant BRCA-EU 5 126305335 126305335 single base substitution C T intron_variant BRCA-EU 5 126306013 126306013 single base substitution C G intron_variant BRCA-EU 5 126306140 126306140 single base substitution T C intron_variant BRCA-EU 5 126306997 126306997 single base substitution C T intron_variant BRCA-EU 5 126310572 126310572 single base substitution C A intron_variant BRCA-EU 5 126311069 126311069 single base substitution C T intron_variant BRCA-EU 5 126312337 126312337 single base substitution C G intron_variant BRCA-EU 5 126312573 126312573 single base substitution G T intron_variant BRCA-EU 5 126312851 126312851 single base substitution G A intron_variant BRCA-EU 5 126313860 126313860 single base substitution C A intron_variant BRCA-EU 5 126315239 126315239 single base substitution G C intron_variant BRCA-EU 5 126316278 126316278 single base substitution G A intron_variant BRCA-EU 5 126317185 126317185 single base substitution G T intron_variant BRCA-EU 5 126317249 126317249 single base substitution G T intron_variant BRCA-EU 5 126318637 126318637 single base substitution G C intron_variant BRCA-EU 5 126319122 126319122 single base substitution C T intron_variant BRCA-EU 5 126319358 126319358 single base substitution G A intron_variant BRCA-EU 5 126319366 126319366 single base substitution G A intron_variant BRCA-EU 5 126321544 126321544 single base substitution C G intron_variant BRCA-EU 5 126321820 126321820 single base substitution G C intron_variant BRCA-EU 5 126323330 126323330 single base substitution G A intron_variant BRCA-EU 5 126325231 126325231 single base substitution G C intron_variant BRCA-EU 5 126325318 126325318 single base substitution G A intron_variant BRCA-EU 5 126326983 126326983 single base substitution C G intron_variant BRCA-EU 5 126329376 126329376 deletion of <=200bp A - intron_variant BRCA-EU 5 126329625 126329625 single base substitution C T intron_variant BRCA-EU 5 126330836 126330836 single base substitution A G intron_variant BRCA-EU 5 126330873 126330873 single base substitution C T intron_variant BRCA-EU 5 126331235 126331235 insertion of <=200bp - A intron_variant BRCA-EU 5 126331619 126331619 single base substitution G C intron_variant BRCA-EU 5 126332096 126332096 single base substitution G C intron_variant BRCA-EU 5 126334599 126334599 single base substitution G A intron_variant BRCA-EU 5 126334614 126334614 deletion of <=200bp A - intron_variant BRCA-EU 5 126335107 126335107 single base substitution G C intron_variant BRCA-EU 5 126336068 126336068 single base substitution C T intron_variant BRCA-EU 5 126339263 126339263 single base substitution G C intron_variant BRCA-EU 5 126341154 126341154 single base substitution T A intron_variant BRCA-EU 5 126342022 126342022 single base substitution G A intron_variant BRCA-EU 5 126342131 126342131 single base substitution G C intron_variant BRCA-EU 5 126342523 126342523 single base substitution A G intron_variant BRCA-EU 5 126342690 126342690 single base substitution T A intron_variant BRCA-EU 5 126347197 126347197 single base substitution T C intron_variant BRCA-EU 5 126348515 126348515 insertion of <=200bp - TG intron_variant BRCA-EU 5 126349570 126349570 single base substitution C T intron_variant BRCA-EU 5 126350170 126350170 single base substitution T A intron_variant BRCA-EU 5 126351343 126351343 single base substitution C T intron_variant BRCA-EU 5 126351632 126351632 single base substitution A C intron_variant BRCA-EU 5 126351661 126351661 single base substitution C T intron_variant BRCA-EU 5 126351989 126351989 single base substitution T A intron_variant BRCA-EU 5 126353005 126353005 single base substitution A G intron_variant BRCA-EU 5 126353507 126353507 deletion of <=200bp T - intron_variant BRCA-EU 5 126353827 126353827 single base substitution C T intron_variant BRCA-EU 5 126357479 126357479 single base substitution G A intron_variant BRCA-EU 5 126357485 126357485 single base substitution C G intron_variant BRCA-EU 5 126358291 126358291 single base substitution C T intron_variant BRCA-EU 5 126359750 126359750 single base substitution A G intron_variant BRCA-EU 5 126362554 126362554 single base substitution C G intron_variant BRCA-EU 5 126362958 126362958 single base substitution T C intron_variant BRCA-EU 5 126363399 126363399 single base substitution G A intron_variant BRCA-EU 5 126369581 126369581 single base substitution C T upstream_gene_variant BRCA-EU 5 126369850 126369850 single base substitution T C upstream_gene_variant BRCA-EU 5 126370433 126370433 single base substitution G C upstream_gene_variant BRCA-EU 5 126370765 126370765 single base substitution T A upstream_gene_variant BRCA-EU 5 126371187 126371187 single base substitution C T upstream_gene_variant BRCA-FR 5 126212373 126212373 single base substitution C G intron_variant BRCA-FR 5 126222546 126222546 single base substitution C G intron_variant BRCA-FR 5 126224685 126224685 single base substitution G C intron_variant BRCA-FR 5 126239346 126239346 single base substitution C G intron_variant BRCA-FR 5 126244141 126244141 single base substitution C G intron_variant BRCA-FR 5 126246646 126246646 single base substitution C T downstream_gene_variant BRCA-FR 5 126246646 126246646 single base substitution C T intron_variant BRCA-FR 5 126246675 126246675 single base substitution G A downstream_gene_variant BRCA-FR 5 126246675 126246675 single base substitution G A intron_variant BRCA-FR 5 126253384 126253384 single base substitution G A intron_variant BRCA-FR 5 126253384 126253384 single base substitution G A upstream_gene_variant BRCA-FR 5 126256730 126256730 single base substitution G A intron_variant BRCA-FR 5 126256730 126256730 single base substitution G A upstream_gene_variant BRCA-FR 5 126259618 126259618 single base substitution C T intron_variant BRCA-FR 5 126259634 126259634 single base substitution C T intron_variant BRCA-FR 5 126260752 126260752 single base substitution C G intron_variant BRCA-FR 5 126266001 126266001 single base substitution C T intron_variant BRCA-FR 5 126271266 126271266 single base substitution A G intron_variant BRCA-FR 5 126299287 126299287 single base substitution G C intron_variant BRCA-FR 5 126301463 126301463 single base substitution G T intron_variant BRCA-FR 5 126301859 126301859 single base substitution T C intron_variant BRCA-FR 5 126312851 126312851 single base substitution G A intron_variant BRCA-FR 5 126313860 126313860 single base substitution C A intron_variant BRCA-FR 5 126317249 126317249 single base substitution G T intron_variant BRCA-FR 5 126319122 126319122 single base substitution C T intron_variant BRCA-FR 5 126323897 126323897 single base substitution C T intron_variant BRCA-FR 5 126329625 126329625 single base substitution C T intron_variant BRCA-FR 5 126334964 126334964 single base substitution G A intron_variant BRCA-FR 5 126335107 126335107 single base substitution G C intron_variant BRCA-FR 5 126342022 126342022 single base substitution G A intron_variant BRCA-FR 5 126342131 126342131 single base substitution G C intron_variant BRCA-FR 5 126351343 126351343 single base substitution C T intron_variant BRCA-FR 5 126363549 126363549 single base substitution T G intron_variant BRCA-UK 5 126203991 126203991 single base substitution C T 3_prime_UTR_variant BRCA-UK 5 126203991 126203991 single base substitution C T downstream_gene_variant BRCA-UK 5 126211412 126211412 single base substitution C T intron_variant BRCA-UK 5 126221202 126221202 single base substitution T C intron_variant BRCA-UK 5 126250386 126250386 single base substitution C G 3_prime_UTR_variant BRCA-UK 5 126250386 126250386 single base substitution C G downstream_gene_variant BRCA-UK 5 126250386 126250386 single base substitution C G intron_variant BRCA-UK 5 126264177 126264177 deletion of <=200bp T - intron_variant BRCA-UK 5 126311598 126311598 single base substitution C G intron_variant BRCA-UK 5 126320327 126320327 single base substitution A C intron_variant BRCA-UK 5 126321544 126321544 single base substitution C G intron_variant BRCA-UK 5 126345868 126345868 single base substitution G A intron_variant BRCA-UK 5 126359750 126359750 single base substitution A G intron_variant BRCA-UK 5 126369581 126369581 single base substitution C T upstream_gene_variant BRCA-US 5 126213929 126213929 single base substitution C G exon_variant BRCA-US 5 126213929 126213929 single base substitution C G missense_variant G184A 551G>C BTCA-JP 5 126213906 126213906 single base substitution G C exon_variant BTCA-JP 5 126213906 126213906 single base substitution G C missense_variant L192V 574C>G BTCA-JP 5 126214055 126214055 single base substitution T G exon_variant BTCA-JP 5 126214055 126214055 single base substitution T G missense_variant K142T 425A>C BTCA-JP 5 126214092 126214092 single base substitution A G splice_region_variant BTCA-JP 5 126214092 126214092 single base substitution A G upstream_gene_variant BTCA-JP 5 126250473 126250473 single base substitution C T 3_prime_UTR_variant BTCA-JP 5 126250473 126250473 single base substitution C T downstream_gene_variant BTCA-JP 5 126250473 126250473 single base substitution C T intron_variant BTCA-JP 5 126250736 126250736 single base substitution C A exon_variant BTCA-JP 5 126250736 126250736 single base substitution C A missense_variant L93F 279G>T BTCA-JP 5 126250736 126250736 single base substitution C A upstream_gene_variant CESC-US 5 126214052 126214052 single base substitution C T exon_variant CESC-US 5 126214052 126214052 single base substitution C T missense_variant R143Q 428G>A CLLE-ES 5 126204953 126204953 single base substitution A G 3_prime_UTR_variant CLLE-ES 5 126204953 126204953 single base substitution A G downstream_gene_variant CLLE-ES 5 126212883 126212883 single base substitution C G intron_variant CLLE-ES 5 126238907 126238907 single base substitution C T intron_variant CLLE-ES 5 126250196 126250196 single base substitution A G downstream_gene_variant CLLE-ES 5 126250196 126250196 single base substitution A G intron_variant CLLE-ES 5 126251216 126251216 single base substitution C A intron_variant CLLE-ES 5 126251216 126251216 single base substitution C A upstream_gene_variant CLLE-ES 5 126298510 126298510 single base substitution T C intron_variant CLLE-ES 5 126319709 126319709 single base substitution C G intron_variant CLLE-ES 5 126327062 126327062 single base substitution G A intron_variant CLLE-ES 5 126337449 126337449 single base substitution T A intron_variant COAD-US 5 126250723 126250723 single base substitution G A exon_variant COAD-US 5 126250723 126250723 single base substitution G A missense_variant R98W 292C>T COAD-US 5 126250723 126250723 single base substitution G A upstream_gene_variant COCA-CN 5 126200620 126200620 single base substitution A T downstream_gene_variant COCA-CN 5 126202590 126202590 single base substitution A G downstream_gene_variant COCA-CN 5 126203741 126203741 single base substitution G A 3_prime_UTR_variant COCA-CN 5 126203741 126203741 single base substitution G A downstream_gene_variant COCA-CN 5 126205692 126205692 single base substitution C T 3_prime_UTR_variant COCA-CN 5 126205692 126205692 single base substitution C T downstream_gene_variant COCA-CN 5 126213945 126213945 single base substitution G A exon_variant COCA-CN 5 126213945 126213945 single base substitution G A missense_variant R179W 535C>T COCA-CN 5 126229029 126229029 single base substitution T G intron_variant COCA-CN 5 126237599 126237599 single base substitution C A intron_variant COCA-CN 5 126243155 126243155 single base substitution G C intron_variant COCA-CN 5 126243162 126243162 single base substitution A G intron_variant COCA-CN 5 126250505 126250505 single base substitution G C 3_prime_UTR_variant COCA-CN 5 126250505 126250505 single base substitution G C downstream_gene_variant COCA-CN 5 126250505 126250505 single base substitution G C intron_variant COCA-CN 5 126292348 126292348 single base substitution A C intron_variant COCA-CN 5 126307077 126307077 single base substitution G T intron_variant COCA-CN 5 126316385 126316385 single base substitution A G intron_variant COCA-CN 5 126322398 126322398 single base substitution C T intron_variant COCA-CN 5 126331210 126331210 single base substitution A G intron_variant COCA-CN 5 126340835 126340835 single base substitution T C intron_variant COCA-CN 5 126342078 126342078 single base substitution T G intron_variant COCA-CN 5 126350120 126350120 single base substitution T C intron_variant COCA-CN 5 126359382 126359382 single base substitution C T intron_variant COCA-CN 5 126363176 126363176 single base substitution T C intron_variant EOPC-DE 5 126277491 126277491 single base substitution A C intron_variant ESAD-UK 5 126206443 126206443 single base substitution C T exon_variant ESAD-UK 5 126206443 126206443 single base substitution C T missense_variant R215H 644G>A ESAD-UK 5 126207109 126207109 single base substitution C G intron_variant ESAD-UK 5 126210116 126210116 single base substitution T A intron_variant ESAD-UK 5 126210272 126210272 single base substitution C G intron_variant ESAD-UK 5 126210653 126210653 single base substitution G A intron_variant ESAD-UK 5 126211891 126211891 single base substitution G A intron_variant ESAD-UK 5 126213188 126213188 deletion of <=200bp C - intron_variant ESAD-UK 5 126214504 126214504 single base substitution G A intron_variant ESAD-UK 5 126214504 126214504 single base substitution G A upstream_gene_variant ESAD-UK 5 126217260 126217260 single base substitution C T intron_variant ESAD-UK 5 126217260 126217260 single base substitution C T upstream_gene_variant ESAD-UK 5 126220271 126220271 single base substitution G A intron_variant ESAD-UK 5 126221181 126221181 single base substitution C T intron_variant ESAD-UK 5 126223009 126223009 single base substitution T C intron_variant ESAD-UK 5 126223080 126223080 single base substitution C A intron_variant ESAD-UK 5 126223297 126223297 single base substitution C A intron_variant ESAD-UK 5 126230882 126230882 single base substitution T G downstream_gene_variant ESAD-UK 5 126230882 126230882 single base substitution T G intron_variant ESAD-UK 5 126232134 126232134 single base substitution G C downstream_gene_variant ESAD-UK 5 126232134 126232134 single base substitution G C intron_variant ESAD-UK 5 126237708 126237708 single base substitution G C intron_variant ESAD-UK 5 126238555 126238555 single base substitution A C intron_variant ESAD-UK 5 126246388 126246388 single base substitution G A downstream_gene_variant ESAD-UK 5 126246388 126246388 single base substitution G A intron_variant ESAD-UK 5 126250716 126250716 single base substitution C T exon_variant ESAD-UK 5 126250716 126250716 single base substitution C T missense_variant C100Y 299G>A ESAD-UK 5 126250716 126250716 single base substitution C T upstream_gene_variant ESAD-UK 5 126253851 126253851 single base substitution G A exon_variant ESAD-UK 5 126253851 126253851 single base substitution G A missense_variant R5C 13C>T ESAD-UK 5 126253851 126253851 single base substitution G A upstream_gene_variant ESAD-UK 5 126255736 126255736 single base substitution T A intron_variant ESAD-UK 5 126255736 126255736 single base substitution T A upstream_gene_variant ESAD-UK 5 126258039 126258039 single base substitution C A intron_variant ESAD-UK 5 126258039 126258039 single base substitution C A upstream_gene_variant ESAD-UK 5 126258839 126258839 single base substitution C A intron_variant ESAD-UK 5 126258839 126258839 single base substitution C A upstream_gene_variant ESAD-UK 5 126261196 126261196 single base substitution C T intron_variant ESAD-UK 5 126262048 126262048 single base substitution C A intron_variant ESAD-UK 5 126263241 126263241 single base substitution G A intron_variant ESAD-UK 5 126264177 126264177 single base substitution T A intron_variant ESAD-UK 5 126264185 126264185 single base substitution A T intron_variant ESAD-UK 5 126265609 126265609 single base substitution C T intron_variant ESAD-UK 5 126266611 126266611 single base substitution A G intron_variant ESAD-UK 5 126270603 126270603 single base substitution C T intron_variant ESAD-UK 5 126271589 126271589 single base substitution C T intron_variant ESAD-UK 5 126272487 126272487 single base substitution C A intron_variant ESAD-UK 5 126272489 126272489 single base substitution C T intron_variant ESAD-UK 5 126273357 126273357 single base substitution A C intron_variant ESAD-UK 5 126276411 126276411 single base substitution T C intron_variant ESAD-UK 5 126278512 126278512 single base substitution A T intron_variant ESAD-UK 5 126282326 126282326 single base substitution G A intron_variant ESAD-UK 5 126282332 126282332 single base substitution A T intron_variant ESAD-UK 5 126282946 126282946 deletion of <=200bp T - intron_variant ESAD-UK 5 126284238 126284238 single base substitution G A intron_variant ESAD-UK 5 126285926 126285926 single base substitution C A intron_variant ESAD-UK 5 126289489 126289489 single base substitution C A intron_variant ESAD-UK 5 126292608 126292608 single base substitution C T intron_variant ESAD-UK 5 126294381 126294381 single base substitution T A intron_variant ESAD-UK 5 126295737 126295737 single base substitution A C intron_variant ESAD-UK 5 126304565 126304565 single base substitution A C intron_variant ESAD-UK 5 126306564 126306564 single base substitution T C intron_variant ESAD-UK 5 126307622 126307622 single base substitution G C intron_variant ESAD-UK 5 126310186 126310186 single base substitution A C intron_variant ESAD-UK 5 126314663 126314663 single base substitution G A intron_variant ESAD-UK 5 126316074 126316074 single base substitution T A intron_variant ESAD-UK 5 126318609 126318609 single base substitution G A intron_variant ESAD-UK 5 126322555 126322555 single base substitution C T intron_variant ESAD-UK 5 126323209 126323209 single base substitution G A intron_variant ESAD-UK 5 126326277 126326277 single base substitution G A intron_variant ESAD-UK 5 126329250 126329250 single base substitution G A intron_variant ESAD-UK 5 126329400 126329400 single base substitution T A intron_variant ESAD-UK 5 126330049 126330049 single base substitution G C intron_variant ESAD-UK 5 126337512 126337512 single base substitution G A intron_variant ESAD-UK 5 126338632 126338632 single base substitution C T intron_variant ESAD-UK 5 126338899 126338899 single base substitution C T intron_variant ESAD-UK 5 126341566 126341566 single base substitution A C intron_variant ESAD-UK 5 126342690 126342690 single base substitution T A intron_variant ESAD-UK 5 126344871 126344871 single base substitution G T intron_variant ESAD-UK 5 126345287 126345287 single base substitution G A intron_variant ESAD-UK 5 126347464 126347464 single base substitution A C intron_variant ESAD-UK 5 126348277 126348277 single base substitution G C intron_variant ESAD-UK 5 126349255 126349255 single base substitution G A intron_variant ESAD-UK 5 126350932 126350932 single base substitution A G intron_variant ESAD-UK 5 126351451 126351451 single base substitution T C intron_variant ESAD-UK 5 126355356 126355356 single base substitution A G intron_variant ESAD-UK 5 126356541 126356541 insertion of <=200bp - AAAT intron_variant ESAD-UK 5 126358466 126358466 single base substitution C G intron_variant ESAD-UK 5 126366417 126366417 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 5 126366417 126366417 single base substitution G A upstream_gene_variant ESAD-UK 5 126368030 126368030 insertion of <=200bp - T upstream_gene_variant LAML-KR 5 126226510 126226510 single base substitution G A intron_variant LAML-KR 5 126226827 126226827 single base substitution G T intron_variant LAML-KR 5 126227459 126227459 single base substitution C T intron_variant LAML-KR 5 126240543 126240543 single base substitution G C intron_variant LAML-KR 5 126241039 126241039 single base substitution T G intron_variant LAML-KR 5 126243421 126243421 single base substitution G T intron_variant LAML-KR 5 126243510 126243510 single base substitution A C intron_variant LAML-KR 5 126243637 126243637 single base substitution G T intron_variant LAML-KR 5 126243699 126243699 single base substitution G A intron_variant LAML-KR 5 126338912 126338912 single base substitution T C intron_variant LAML-KR 5 126339355 126339355 single base substitution T A intron_variant LICA-FR 5 126207766 126207766 single base substitution C T intron_variant LICA-FR 5 126226101 126226101 single base substitution G A intron_variant LICA-FR 5 126231606 126231606 single base substitution G A downstream_gene_variant LICA-FR 5 126231606 126231606 single base substitution G A intron_variant LICA-FR 5 126243510 126243510 single base substitution A C intron_variant LICA-FR 5 126243637 126243637 single base substitution G T intron_variant LICA-FR 5 126247366 126247366 single base substitution T C downstream_gene_variant LICA-FR 5 126247366 126247366 single base substitution T C intron_variant LICA-FR 5 126250747 126250747 single base substitution T A exon_variant LICA-FR 5 126250747 126250747 single base substitution T A missense_variant T90S 268A>T LICA-FR 5 126250747 126250747 single base substitution T A upstream_gene_variant LICA-FR 5 126277508 126277508 single base substitution G T intron_variant LICA-FR 5 126285676 126285676 single base substitution C A intron_variant LICA-FR 5 126296237 126296237 insertion of <=200bp - TTA intron_variant LICA-FR 5 126305123 126305123 single base substitution C A intron_variant LICA-FR 5 126309814 126309814 single base substitution C A intron_variant LICA-FR 5 126310112 126310112 single base substitution G T intron_variant LICA-FR 5 126316068 126316068 insertion of <=200bp - T intron_variant LICA-FR 5 126321458 126321458 single base substitution C T intron_variant LICA-FR 5 126341917 126341917 single base substitution C T intron_variant LICA-FR 5 126365203 126365203 single base substitution A T intron_variant LINC-JP 5 126213867 126213867 single base substitution C T intron_variant LINC-JP 5 126250707 126250707 single base substitution T C exon_variant LINC-JP 5 126250707 126250707 single base substitution T C missense_variant H103R 308A>G LINC-JP 5 126250707 126250707 single base substitution T C upstream_gene_variant LINC-JP 5 126290502 126290502 single base substitution G T intron_variant LINC-JP 5 126291583 126291583 single base substitution T A intron_variant LINC-JP 5 126305936 126305936 single base substitution C T intron_variant LINC-JP 5 126310131 126310131 single base substitution C A intron_variant LINC-JP 5 126315310 126315310 single base substitution G A intron_variant LINC-JP 5 126327018 126327018 single base substitution C A intron_variant LINC-JP 5 126332228 126332228 deletion of <=200bp A - intron_variant LINC-JP 5 126332241 126332241 single base substitution G A intron_variant LINC-JP 5 126346285 126346285 single base substitution C A intron_variant LINC-JP 5 126362748 126362748 single base substitution G T intron_variant LINC-JP 5 126365504 126365504 single base substitution T C intron_variant LIRI-JP 5 126199359 126199359 single base substitution G A downstream_gene_variant LIRI-JP 5 126199854 126199854 single base substitution G T downstream_gene_variant LIRI-JP 5 126201066 126201066 single base substitution A G downstream_gene_variant LIRI-JP 5 126201281 126201281 single base substitution G T downstream_gene_variant LIRI-JP 5 126210721 126210721 single base substitution C G intron_variant LIRI-JP 5 126212190 126212190 single base substitution T G intron_variant LIRI-JP 5 126212243 126212243 single base substitution T G intron_variant LIRI-JP 5 126213404 126213404 single base substitution A G intron_variant LIRI-JP 5 126213765 126213765 single base substitution T G intron_variant LIRI-JP 5 126216703 126216703 single base substitution A G intron_variant LIRI-JP 5 126216703 126216703 single base substitution A G upstream_gene_variant LIRI-JP 5 126217650 126217650 single base substitution T C intron_variant LIRI-JP 5 126217650 126217650 single base substitution T C upstream_gene_variant LIRI-JP 5 126217929 126217929 single base substitution G A intron_variant LIRI-JP 5 126217929 126217929 single base substitution G A upstream_gene_variant LIRI-JP 5 126218643 126218643 single base substitution G A intron_variant LIRI-JP 5 126218643 126218643 single base substitution G A upstream_gene_variant LIRI-JP 5 126221995 126221995 single base substitution C T intron_variant LIRI-JP 5 126223865 126223865 single base substitution C A intron_variant LIRI-JP 5 126230400 126230400 single base substitution G A downstream_gene_variant LIRI-JP 5 126230400 126230400 single base substitution G A intron_variant LIRI-JP 5 126231856 126231856 single base substitution C T downstream_gene_variant LIRI-JP 5 126231856 126231856 single base substitution C T intron_variant LIRI-JP 5 126231992 126231992 single base substitution G C downstream_gene_variant LIRI-JP 5 126231992 126231992 single base substitution G C intron_variant LIRI-JP 5 126233287 126233287 single base substitution A G downstream_gene_variant LIRI-JP 5 126233287 126233287 single base substitution A G intron_variant LIRI-JP 5 126234862 126234862 single base substitution C T exon_variant LIRI-JP 5 126234862 126234862 single base substitution C T intron_variant LIRI-JP 5 126237279 126237279 single base substitution C T intron_variant LIRI-JP 5 126238504 126238504 single base substitution G T intron_variant LIRI-JP 5 126238650 126238650 single base substitution A G intron_variant LIRI-JP 5 126246746 126246746 single base substitution C T downstream_gene_variant LIRI-JP 5 126246746 126246746 single base substitution C T intron_variant LIRI-JP 5 126251851 126251851 single base substitution A C intron_variant LIRI-JP 5 126251851 126251851 single base substitution A C upstream_gene_variant LIRI-JP 5 126252368 126252368 insertion of <=200bp - GACA intron_variant LIRI-JP 5 126252368 126252368 insertion of <=200bp - GACA upstream_gene_variant LIRI-JP 5 126252586 126252586 single base substitution A G intron_variant LIRI-JP 5 126252586 126252586 single base substitution A G upstream_gene_variant LIRI-JP 5 126254497 126254497 single base substitution C A intron_variant LIRI-JP 5 126254497 126254497 single base substitution C A upstream_gene_variant LIRI-JP 5 126255132 126255132 single base substitution C G intron_variant LIRI-JP 5 126255132 126255132 single base substitution C G upstream_gene_variant LIRI-JP 5 126255260 126255260 single base substitution G T intron_variant LIRI-JP 5 126255260 126255260 single base substitution G T upstream_gene_variant LIRI-JP 5 126255936 126255936 single base substitution T G intron_variant LIRI-JP 5 126255936 126255936 single base substitution T G upstream_gene_variant LIRI-JP 5 126258426 126258426 single base substitution G T intron_variant LIRI-JP 5 126258426 126258426 single base substitution G T upstream_gene_variant LIRI-JP 5 126259949 126259949 single base substitution A G intron_variant LIRI-JP 5 126262796 126262796 single base substitution C T intron_variant LIRI-JP 5 126263026 126263026 single base substitution A G intron_variant LIRI-JP 5 126268854 126268854 single base substitution A G intron_variant LIRI-JP 5 126269994 126269994 single base substitution A G intron_variant LIRI-JP 5 126270181 126270181 single base substitution A C intron_variant LIRI-JP 5 126270440 126270440 single base substitution G A intron_variant LIRI-JP 5 126275810 126275810 single base substitution T A intron_variant LIRI-JP 5 126276060 126276060 single base substitution T A intron_variant LIRI-JP 5 126278849 126278849 single base substitution G A intron_variant LIRI-JP 5 126280260 126280260 single base substitution C T intron_variant LIRI-JP 5 126283169 126283169 single base substitution A G intron_variant LIRI-JP 5 126284223 126284223 single base substitution A C intron_variant LIRI-JP 5 126285387 126285387 single base substitution T C intron_variant LIRI-JP 5 126287191 126287191 single base substitution C A intron_variant LIRI-JP 5 126290121 126290121 single base substitution G A intron_variant LIRI-JP 5 126291739 126291739 single base substitution C A intron_variant LIRI-JP 5 126293695 126293695 single base substitution G T intron_variant LIRI-JP 5 126295044 126295044 single base substitution A G intron_variant LIRI-JP 5 126300076 126300076 single base substitution T C intron_variant LIRI-JP 5 126301973 126301973 single base substitution A G intron_variant LIRI-JP 5 126304120 126304120 single base substitution T C intron_variant LIRI-JP 5 126311189 126311189 single base substitution C T intron_variant LIRI-JP 5 126312120 126312120 single base substitution T G intron_variant LIRI-JP 5 126313001 126313001 single base substitution G A intron_variant LIRI-JP 5 126314935 126314935 single base substitution C T intron_variant LIRI-JP 5 126318225 126318225 single base substitution C A intron_variant LIRI-JP 5 126318854 126318854 single base substitution C T intron_variant LIRI-JP 5 126323387 126323398 deletion of <=200bp CCAGCAACATGC - intron_variant LIRI-JP 5 126323751 126323751 single base substitution G T intron_variant LIRI-JP 5 126327006 126327006 single base substitution C T intron_variant LIRI-JP 5 126328710 126328710 single base substitution C T intron_variant LIRI-JP 5 126330239 126330239 single base substitution T A intron_variant LIRI-JP 5 126331455 126331455 single base substitution T C intron_variant LIRI-JP 5 126332107 126332107 single base substitution A T intron_variant LIRI-JP 5 126332865 126332865 single base substitution C T intron_variant LIRI-JP 5 126334350 126334350 single base substitution T A intron_variant LIRI-JP 5 126339398 126339398 single base substitution T A intron_variant LIRI-JP 5 126339508 126339508 single base substitution C T intron_variant LIRI-JP 5 126340067 126340067 single base substitution T C intron_variant LIRI-JP 5 126341180 126341180 single base substitution T C intron_variant LIRI-JP 5 126344281 126344281 single base substitution G T intron_variant LIRI-JP 5 126346616 126346616 single base substitution G A intron_variant LIRI-JP 5 126348044 126348044 single base substitution A G intron_variant LIRI-JP 5 126348306 126348306 single base substitution G A intron_variant LIRI-JP 5 126348313 126348313 single base substitution G T intron_variant LIRI-JP 5 126348444 126348444 single base substitution A G intron_variant LIRI-JP 5 126349173 126349173 single base substitution T C intron_variant LIRI-JP 5 126349937 126349937 single base substitution G T intron_variant LIRI-JP 5 126350924 126350924 single base substitution A G intron_variant LIRI-JP 5 126354358 126354358 single base substitution T A intron_variant LIRI-JP 5 126354544 126354544 single base substitution T A intron_variant LIRI-JP 5 126356832 126356832 single base substitution T C intron_variant LIRI-JP 5 126357913 126357913 single base substitution G T intron_variant LIRI-JP 5 126358553 126358553 single base substitution C T intron_variant LIRI-JP 5 126358811 126358811 single base substitution G C intron_variant LIRI-JP 5 126361195 126361195 single base substitution T G intron_variant LIRI-JP 5 126361813 126361813 single base substitution G T intron_variant LIRI-JP 5 126364170 126364170 single base substitution C T intron_variant LIRI-JP 5 126365250 126365250 single base substitution C A intron_variant LIRI-JP 5 126368537 126368537 single base substitution G A upstream_gene_variant LIRI-JP 5 126370686 126370686 single base substitution C T upstream_gene_variant LIRI-JP 5 126371457 126371457 single base substitution G C upstream_gene_variant LUSC-KR 5 126200304 126200304 single base substitution T A downstream_gene_variant LUSC-KR 5 126201561 126201561 single base substitution C T downstream_gene_variant LUSC-KR 5 126205297 126205297 single base substitution G T 3_prime_UTR_variant LUSC-KR 5 126205297 126205297 single base substitution G T downstream_gene_variant LUSC-KR 5 126212599 126212599 single base substitution C G intron_variant LUSC-KR 5 126215103 126215103 single base substitution G A intron_variant LUSC-KR 5 126215103 126215103 single base substitution G A upstream_gene_variant LUSC-KR 5 126215276 126215276 single base substitution T G intron_variant LUSC-KR 5 126215276 126215276 single base substitution T G upstream_gene_variant LUSC-KR 5 126219835 126219835 single base substitution T C intron_variant LUSC-KR 5 126226510 126226510 single base substitution G A intron_variant LUSC-KR 5 126227535 126227535 single base substitution G A intron_variant LUSC-KR 5 126227589 126227589 single base substitution G A intron_variant LUSC-KR 5 126228638 126228638 single base substitution G C intron_variant LUSC-KR 5 126229733 126229733 single base substitution G C downstream_gene_variant LUSC-KR 5 126229733 126229733 single base substitution G C intron_variant LUSC-KR 5 126234059 126234059 single base substitution C G downstream_gene_variant LUSC-KR 5 126234059 126234059 single base substitution C G intron_variant LUSC-KR 5 126234370 126234370 single base substitution G T downstream_gene_variant LUSC-KR 5 126234370 126234370 single base substitution G T intron_variant LUSC-KR 5 126234483 126234483 single base substitution G C downstream_gene_variant LUSC-KR 5 126234483 126234483 single base substitution G C intron_variant LUSC-KR 5 126239265 126239265 single base substitution A T intron_variant LUSC-KR 5 126239864 126239864 single base substitution C T intron_variant LUSC-KR 5 126240191 126240191 single base substitution T C intron_variant LUSC-KR 5 126240458 126240458 single base substitution C A intron_variant LUSC-KR 5 126240543 126240543 single base substitution G C intron_variant LUSC-KR 5 126240661 126240661 single base substitution T G intron_variant LUSC-KR 5 126240792 126240792 single base substitution G A intron_variant LUSC-KR 5 126243421 126243421 single base substitution G T intron_variant LUSC-KR 5 126243510 126243510 single base substitution A C intron_variant LUSC-KR 5 126243568 126243568 single base substitution A G intron_variant LUSC-KR 5 126243637 126243637 single base substitution G T intron_variant LUSC-KR 5 126243699 126243699 single base substitution G A intron_variant LUSC-KR 5 126243745 126243745 single base substitution A G intron_variant LUSC-KR 5 126246628 126246628 single base substitution T A downstream_gene_variant LUSC-KR 5 126246628 126246628 single base substitution T A intron_variant LUSC-KR 5 126252134 126252134 single base substitution A G intron_variant LUSC-KR 5 126252134 126252134 single base substitution A G upstream_gene_variant LUSC-KR 5 126255966 126255966 single base substitution C G intron_variant LUSC-KR 5 126255966 126255966 single base substitution C G upstream_gene_variant LUSC-KR 5 126256287 126256287 single base substitution C T intron_variant LUSC-KR 5 126256287 126256287 single base substitution C T upstream_gene_variant LUSC-KR 5 126257238 126257238 single base substitution C T intron_variant LUSC-KR 5 126257238 126257238 single base substitution C T upstream_gene_variant LUSC-KR 5 126278747 126278747 single base substitution G T intron_variant LUSC-KR 5 126281948 126281948 single base substitution C G intron_variant LUSC-KR 5 126282455 126282455 single base substitution T G intron_variant LUSC-KR 5 126282490 126282490 single base substitution C G intron_variant LUSC-KR 5 126290467 126290467 single base substitution A G intron_variant LUSC-KR 5 126314208 126314208 single base substitution C G intron_variant LUSC-KR 5 126318426 126318426 single base substitution G A intron_variant LUSC-KR 5 126326690 126326690 single base substitution C G intron_variant LUSC-KR 5 126328201 126328201 single base substitution T C intron_variant LUSC-KR 5 126329314 126329314 single base substitution G C intron_variant LUSC-KR 5 126329483 126329483 single base substitution G C intron_variant LUSC-KR 5 126330186 126330186 single base substitution G T intron_variant LUSC-KR 5 126331891 126331891 single base substitution G C intron_variant LUSC-KR 5 126338912 126338912 single base substitution T C intron_variant LUSC-KR 5 126338940 126338940 single base substitution G A intron_variant LUSC-KR 5 126338967 126338967 single base substitution C A intron_variant LUSC-KR 5 126343060 126343060 single base substitution G C intron_variant LUSC-KR 5 126348215 126348215 single base substitution T C intron_variant LUSC-KR 5 126348257 126348257 single base substitution G A intron_variant LUSC-KR 5 126351744 126351744 single base substitution C A intron_variant LUSC-KR 5 126351827 126351827 single base substitution A G intron_variant LUSC-KR 5 126364270 126364270 single base substitution G T intron_variant LUSC-KR 5 126371087 126371087 single base substitution C T upstream_gene_variant MALY-DE 5 126211862 126211862 single base substitution T A intron_variant MALY-DE 5 126211870 126211870 single base substitution T C intron_variant MALY-DE 5 126213028 126213028 single base substitution A G intron_variant MALY-DE 5 126219337 126219337 single base substitution G A intron_variant MALY-DE 5 126219799 126219799 single base substitution G A intron_variant MALY-DE 5 126232003 126232003 single base substitution A G downstream_gene_variant MALY-DE 5 126232003 126232003 single base substitution A G intron_variant MALY-DE 5 126251007 126251007 single base substitution C T intron_variant MALY-DE 5 126251007 126251007 single base substitution C T upstream_gene_variant MALY-DE 5 126252293 126252293 single base substitution C A intron_variant MALY-DE 5 126252293 126252293 single base substitution C A upstream_gene_variant MALY-DE 5 126254075 126254076 deletion of <=200bp CA - intron_variant MALY-DE 5 126254075 126254076 deletion of <=200bp CA - upstream_gene_variant MALY-DE 5 126257816 126257816 single base substitution G A intron_variant MALY-DE 5 126257816 126257816 single base substitution G A upstream_gene_variant MALY-DE 5 126261928 126261928 single base substitution A C intron_variant MALY-DE 5 126264800 126264800 single base substitution G A intron_variant MALY-DE 5 126264898 126264898 single base substitution C A intron_variant MALY-DE 5 126273913 126273913 single base substitution A T intron_variant MALY-DE 5 126274091 126274091 single base substitution C T intron_variant MALY-DE 5 126275728 126275728 insertion of <=200bp - A intron_variant MALY-DE 5 126281459 126281459 single base substitution G A intron_variant MALY-DE 5 126285067 126285067 single base substitution T A intron_variant MALY-DE 5 126286540 126286540 single base substitution A C intron_variant MALY-DE 5 126287942 126287948 deletion of <=200bp TTTTTTC - intron_variant MALY-DE 5 126288014 126288014 single base substitution T C intron_variant MALY-DE 5 126290238 126290238 insertion of <=200bp - T intron_variant MALY-DE 5 126292302 126292302 single base substitution A G intron_variant MALY-DE 5 126297934 126297934 single base substitution C A intron_variant MALY-DE 5 126299741 126299741 single base substitution A T intron_variant MALY-DE 5 126309992 126309992 single base substitution C A intron_variant MALY-DE 5 126312823 126312823 single base substitution C T intron_variant MALY-DE 5 126316821 126316821 single base substitution T C intron_variant MALY-DE 5 126325026 126325026 single base substitution C A intron_variant MALY-DE 5 126325032 126325032 single base substitution A C intron_variant MALY-DE 5 126329977 126329977 single base substitution A T intron_variant MALY-DE 5 126338910 126338910 single base substitution G A intron_variant MALY-DE 5 126342113 126342113 single base substitution A C intron_variant MALY-DE 5 126342680 126342680 insertion of <=200bp - T intron_variant MALY-DE 5 126342691 126342691 single base substitution A T intron_variant MALY-DE 5 126356630 126356630 single base substitution A C intron_variant MALY-DE 5 126361708 126361708 single base substitution G A intron_variant MALY-DE 5 126363397 126363397 single base substitution G A intron_variant MELA-AU 5 126198845 126198845 single base substitution C T downstream_gene_variant MELA-AU 5 126199383 126199383 single base substitution C T downstream_gene_variant MELA-AU 5 126199616 126199616 single base substitution G A downstream_gene_variant MELA-AU 5 126199787 126199787 single base substitution C T downstream_gene_variant MELA-AU 5 126199940 126199940 single base substitution C T downstream_gene_variant MELA-AU 5 126200281 126200281 single base substitution C T downstream_gene_variant MELA-AU 5 126201957 126201957 single base substitution C T downstream_gene_variant MELA-AU 5 126202091 126202091 single base substitution A G downstream_gene_variant MELA-AU 5 126202213 126202213 single base substitution A G downstream_gene_variant MELA-AU 5 126202328 126202328 single base substitution C T downstream_gene_variant MELA-AU 5 126202549 126202549 single base substitution G A downstream_gene_variant MELA-AU 5 126202608 126202608 single base substitution C T downstream_gene_variant MELA-AU 5 126202615 126202615 single base substitution C T downstream_gene_variant MELA-AU 5 126202987 126202987 single base substitution C T downstream_gene_variant MELA-AU 5 126204091 126204091 single base substitution C T 3_prime_UTR_variant MELA-AU 5 126204091 126204091 single base substitution C T downstream_gene_variant MELA-AU 5 126205259 126205259 single base substitution G A 3_prime_UTR_variant MELA-AU 5 126205259 126205259 single base substitution G A downstream_gene_variant MELA-AU 5 126205442 126205442 single base substitution G A 3_prime_UTR_variant MELA-AU 5 126205442 126205442 single base substitution G A downstream_gene_variant MELA-AU 5 126205681 126205681 single base substitution C T 3_prime_UTR_variant MELA-AU 5 126205681 126205681 single base substitution C T downstream_gene_variant MELA-AU 5 126205706 126205706 single base substitution C T 3_prime_UTR_variant MELA-AU 5 126205706 126205706 single base substitution C T downstream_gene_variant MELA-AU 5 126206295 126206295 single base substitution G A 3_prime_UTR_variant MELA-AU 5 126206295 126206295 single base substitution G A exon_variant MELA-AU 5 126206432 126206432 single base substitution G A exon_variant MELA-AU 5 126206432 126206432 single base substitution G A stop_gained Q219* 655C>T MELA-AU 5 126206615 126206615 single base substitution G A intron_variant MELA-AU 5 126206714 126206714 single base substitution C T intron_variant MELA-AU 5 126207423 126207423 single base substitution G A intron_variant MELA-AU 5 126207495 126207495 single base substitution T C intron_variant MELA-AU 5 126207589 126207589 single base substitution G A intron_variant MELA-AU 5 126207671 126207671 single base substitution G T intron_variant MELA-AU 5 126209360 126209360 single base substitution C A intron_variant MELA-AU 5 126209894 126209894 single base substitution C T intron_variant MELA-AU 5 126211137 126211137 single base substitution T C intron_variant MELA-AU 5 126211274 126211274 single base substitution G A intron_variant MELA-AU 5 126211732 126211732 single base substitution A T intron_variant MELA-AU 5 126211814 126211814 single base substitution G A intron_variant MELA-AU 5 126211895 126211895 single base substitution C T intron_variant MELA-AU 5 126212302 126212302 single base substitution C T intron_variant MELA-AU 5 126212433 126212433 single base substitution C T intron_variant MELA-AU 5 126212456 126212456 single base substitution C T intron_variant MELA-AU 5 126212838 126212838 single base substitution A C intron_variant MELA-AU 5 126212855 126212855 single base substitution G A intron_variant MELA-AU 5 126213904 126213904 single base substitution G A exon_variant MELA-AU 5 126213904 126213904 single base substitution G A synonymous_variant L192L 576C>T MELA-AU 5 126214558 126214558 single base substitution A G intron_variant MELA-AU 5 126214558 126214558 single base substitution A G upstream_gene_variant MELA-AU 5 126215067 126215067 single base substitution G A intron_variant MELA-AU 5 126215067 126215067 single base substitution G A upstream_gene_variant MELA-AU 5 126215068 126215068 single base substitution G A intron_variant MELA-AU 5 126215068 126215068 single base substitution G A upstream_gene_variant MELA-AU 5 126215774 126215774 single base substitution C T intron_variant MELA-AU 5 126215774 126215774 single base substitution C T upstream_gene_variant MELA-AU 5 126215808 126215808 single base substitution G A intron_variant MELA-AU 5 126215808 126215808 single base substitution G A upstream_gene_variant MELA-AU 5 126216196 126216196 single base substitution A G intron_variant MELA-AU 5 126216196 126216196 single base substitution A G upstream_gene_variant MELA-AU 5 126217691 126217691 single base substitution G A intron_variant MELA-AU 5 126217691 126217691 single base substitution G A upstream_gene_variant MELA-AU 5 126218089 126218089 single base substitution C T intron_variant MELA-AU 5 126218089 126218089 single base substitution C T upstream_gene_variant MELA-AU 5 126218563 126218563 single base substitution G A intron_variant MELA-AU 5 126218563 126218563 single base substitution G A upstream_gene_variant MELA-AU 5 126219097 126219097 single base substitution A T intron_variant MELA-AU 5 126219381 126219381 single base substitution T A intron_variant MELA-AU 5 126219544 126219544 single base substitution C T intron_variant MELA-AU 5 126219826 126219826 single base substitution G A intron_variant MELA-AU 5 126220202 126220202 single base substitution G A intron_variant MELA-AU 5 126220455 126220455 single base substitution G A intron_variant MELA-AU 5 126220510 126220510 single base substitution A T intron_variant MELA-AU 5 126220769 126220769 single base substitution G A intron_variant MELA-AU 5 126221911 126221911 single base substitution T G intron_variant MELA-AU 5 126223286 126223286 single base substitution G A intron_variant MELA-AU 5 126223782 126223782 single base substitution C T intron_variant MELA-AU 5 126224167 126224167 single base substitution C T intron_variant MELA-AU 5 126224939 126224940 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 126225303 126225303 single base substitution C T intron_variant MELA-AU 5 126225553 126225553 single base substitution C T intron_variant MELA-AU 5 126226180 126226180 single base substitution C T intron_variant MELA-AU 5 126226214 126226215 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 5 126230007 126230007 single base substitution G A downstream_gene_variant MELA-AU 5 126230007 126230007 single base substitution G A intron_variant MELA-AU 5 126230050 126230050 single base substitution G A downstream_gene_variant MELA-AU 5 126230050 126230050 single base substitution G A intron_variant MELA-AU 5 126230393 126230393 single base substitution C T downstream_gene_variant MELA-AU 5 126230393 126230393 single base substitution C T intron_variant MELA-AU 5 126230697 126230697 single base substitution C T downstream_gene_variant MELA-AU 5 126230697 126230697 single base substitution C T intron_variant MELA-AU 5 126231692 126231692 single base substitution G A downstream_gene_variant MELA-AU 5 126231692 126231692 single base substitution G A intron_variant MELA-AU 5 126231700 126231700 single base substitution C T downstream_gene_variant MELA-AU 5 126231700 126231700 single base substitution C T intron_variant MELA-AU 5 126231706 126231706 single base substitution C T downstream_gene_variant MELA-AU 5 126231706 126231706 single base substitution C T intron_variant MELA-AU 5 126231743 126231743 single base substitution C T downstream_gene_variant MELA-AU 5 126231743 126231743 single base substitution C T intron_variant MELA-AU 5 126232055 126232055 single base substitution A G downstream_gene_variant MELA-AU 5 126232055 126232055 single base substitution A G intron_variant MELA-AU 5 126232602 126232602 single base substitution G A downstream_gene_variant MELA-AU 5 126232602 126232602 single base substitution G A intron_variant MELA-AU 5 126232655 126232655 single base substitution G A downstream_gene_variant MELA-AU 5 126232655 126232655 single base substitution G A intron_variant MELA-AU 5 126232805 126232805 single base substitution C T downstream_gene_variant MELA-AU 5 126232805 126232805 single base substitution C T intron_variant MELA-AU 5 126233129 126233129 single base substitution C T downstream_gene_variant MELA-AU 5 126233129 126233129 single base substitution C T intron_variant MELA-AU 5 126233638 126233639 multiple base substitution (>=2bp and <=200bp) GG CA downstream_gene_variant MELA-AU 5 126233638 126233639 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 5 126234851 126234851 single base substitution G A exon_variant MELA-AU 5 126234851 126234851 single base substitution G A intron_variant MELA-AU 5 126234895 126234895 single base substitution G A exon_variant MELA-AU 5 126234895 126234895 single base substitution G A intron_variant MELA-AU 5 126235518 126235518 single base substitution C T intron_variant MELA-AU 5 126235878 126235878 single base substitution G A intron_variant MELA-AU 5 126235905 126235905 single base substitution C T intron_variant MELA-AU 5 126236024 126236024 single base substitution T C intron_variant MELA-AU 5 126236128 126236128 single base substitution C T intron_variant MELA-AU 5 126236292 126236292 single base substitution C T intron_variant MELA-AU 5 126236371 126236371 single base substitution G A intron_variant MELA-AU 5 126236412 126236412 single base substitution G A intron_variant MELA-AU 5 126236503 126236503 single base substitution C T intron_variant MELA-AU 5 126236578 126236578 single base substitution G A intron_variant MELA-AU 5 126236756 126236756 single base substitution G A intron_variant MELA-AU 5 126236976 126236976 single base substitution C T intron_variant MELA-AU 5 126237312 126237312 single base substitution G A intron_variant MELA-AU 5 126237373 126237373 single base substitution C T intron_variant MELA-AU 5 126238430 126238430 single base substitution T C intron_variant MELA-AU 5 126238597 126238597 single base substitution G A intron_variant MELA-AU 5 126239381 126239381 single base substitution G A intron_variant MELA-AU 5 126239707 126239707 single base substitution C T intron_variant MELA-AU 5 126241598 126241598 single base substitution G A intron_variant MELA-AU 5 126241607 126241607 single base substitution C T intron_variant MELA-AU 5 126241950 126241950 single base substitution G A intron_variant MELA-AU 5 126242128 126242128 single base substitution C T intron_variant MELA-AU 5 126242151 126242151 single base substitution C T intron_variant MELA-AU 5 126242317 126242317 single base substitution C T intron_variant MELA-AU 5 126243919 126243919 single base substitution G A intron_variant MELA-AU 5 126244207 126244207 single base substitution C T intron_variant MELA-AU 5 126244228 126244228 single base substitution C T intron_variant MELA-AU 5 126244291 126244291 single base substitution C T intron_variant MELA-AU 5 126244573 126244573 single base substitution G A intron_variant MELA-AU 5 126244697 126244697 single base substitution G A intron_variant MELA-AU 5 126244743 126244743 single base substitution C T intron_variant MELA-AU 5 126244810 126244810 single base substitution C T intron_variant MELA-AU 5 126245002 126245002 single base substitution G A intron_variant MELA-AU 5 126245315 126245315 single base substitution G A intron_variant MELA-AU 5 126245375 126245375 single base substitution C T downstream_gene_variant MELA-AU 5 126245375 126245375 single base substitution C T intron_variant MELA-AU 5 126245635 126245635 single base substitution G A downstream_gene_variant MELA-AU 5 126245635 126245635 single base substitution G A intron_variant MELA-AU 5 126245743 126245743 single base substitution A T downstream_gene_variant MELA-AU 5 126245743 126245743 single base substitution A T intron_variant MELA-AU 5 126245826 126245826 single base substitution C T downstream_gene_variant MELA-AU 5 126245826 126245826 single base substitution C T intron_variant MELA-AU 5 126246028 126246028 single base substitution A C downstream_gene_variant MELA-AU 5 126246028 126246028 single base substitution A C intron_variant MELA-AU 5 126246032 126246032 single base substitution T G downstream_gene_variant MELA-AU 5 126246032 126246032 single base substitution T G intron_variant MELA-AU 5 126246159 126246159 single base substitution C T downstream_gene_variant MELA-AU 5 126246159 126246159 single base substitution C T intron_variant MELA-AU 5 126246363 126246363 single base substitution G A downstream_gene_variant MELA-AU 5 126246363 126246363 single base substitution G A intron_variant MELA-AU 5 126246976 126246976 single base substitution C T downstream_gene_variant MELA-AU 5 126246976 126246976 single base substitution C T intron_variant MELA-AU 5 126247863 126247863 single base substitution A G downstream_gene_variant MELA-AU 5 126247863 126247863 single base substitution A G intron_variant MELA-AU 5 126247961 126247961 single base substitution G A downstream_gene_variant MELA-AU 5 126247961 126247961 single base substitution G A intron_variant MELA-AU 5 126248183 126248183 single base substitution G A downstream_gene_variant MELA-AU 5 126248183 126248183 single base substitution G A intron_variant MELA-AU 5 126248341 126248341 single base substitution C T downstream_gene_variant MELA-AU 5 126248341 126248341 single base substitution C T intron_variant MELA-AU 5 126248941 126248941 single base substitution G A downstream_gene_variant MELA-AU 5 126248941 126248941 single base substitution G A intron_variant MELA-AU 5 126249162 126249162 single base substitution A C downstream_gene_variant MELA-AU 5 126249162 126249162 single base substitution A C intron_variant MELA-AU 5 126249237 126249237 single base substitution C T downstream_gene_variant MELA-AU 5 126249237 126249237 single base substitution C T intron_variant MELA-AU 5 126250838 126250838 single base substitution G A intron_variant MELA-AU 5 126250838 126250838 single base substitution G A upstream_gene_variant MELA-AU 5 126250898 126250898 single base substitution C T intron_variant MELA-AU 5 126250898 126250898 single base substitution C T upstream_gene_variant MELA-AU 5 126251599 126251600 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 126251599 126251600 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 126251848 126251848 single base substitution G A intron_variant MELA-AU 5 126251848 126251848 single base substitution G A upstream_gene_variant MELA-AU 5 126251914 126251914 single base substitution G A intron_variant MELA-AU 5 126251914 126251914 single base substitution G A upstream_gene_variant MELA-AU 5 126251975 126251975 single base substitution G A intron_variant MELA-AU 5 126251975 126251975 single base substitution G A upstream_gene_variant MELA-AU 5 126252599 126252599 single base substitution C T intron_variant MELA-AU 5 126252599 126252599 single base substitution C T upstream_gene_variant MELA-AU 5 126252601 126252601 single base substitution C T intron_variant MELA-AU 5 126252601 126252601 single base substitution C T upstream_gene_variant MELA-AU 5 126253434 126253434 single base substitution C T intron_variant MELA-AU 5 126253434 126253434 single base substitution C T upstream_gene_variant MELA-AU 5 126253515 126253515 single base substitution G A intron_variant MELA-AU 5 126253515 126253515 single base substitution G A upstream_gene_variant MELA-AU 5 126253783 126253783 single base substitution C T exon_variant MELA-AU 5 126253783 126253783 single base substitution C T synonymous_variant V27V 81G>A MELA-AU 5 126253783 126253783 single base substitution C T upstream_gene_variant MELA-AU 5 126254180 126254180 single base substitution G A intron_variant MELA-AU 5 126254180 126254180 single base substitution G A upstream_gene_variant MELA-AU 5 126254184 126254184 single base substitution G A intron_variant MELA-AU 5 126254184 126254184 single base substitution G A upstream_gene_variant MELA-AU 5 126255094 126255094 single base substitution G A intron_variant MELA-AU 5 126255094 126255094 single base substitution G A upstream_gene_variant MELA-AU 5 126255256 126255256 single base substitution C T intron_variant MELA-AU 5 126255256 126255256 single base substitution C T upstream_gene_variant MELA-AU 5 126255281 126255281 single base substitution C T intron_variant MELA-AU 5 126255281 126255281 single base substitution C T upstream_gene_variant MELA-AU 5 126255719 126255719 single base substitution G A intron_variant MELA-AU 5 126255719 126255719 single base substitution G A upstream_gene_variant MELA-AU 5 126256325 126256325 single base substitution G A intron_variant MELA-AU 5 126256325 126256325 single base substitution G A upstream_gene_variant MELA-AU 5 126256449 126256449 single base substitution G A intron_variant MELA-AU 5 126256449 126256449 single base substitution G A upstream_gene_variant MELA-AU 5 126257405 126257405 single base substitution G A intron_variant MELA-AU 5 126257405 126257405 single base substitution G A upstream_gene_variant MELA-AU 5 126257797 126257797 single base substitution G A intron_variant MELA-AU 5 126257797 126257797 single base substitution G A upstream_gene_variant MELA-AU 5 126257822 126257822 single base substitution G A intron_variant MELA-AU 5 126257822 126257822 single base substitution G A upstream_gene_variant MELA-AU 5 126258008 126258008 single base substitution C T intron_variant MELA-AU 5 126258008 126258008 single base substitution C T upstream_gene_variant MELA-AU 5 126258205 126258205 insertion of <=200bp - TTTATTTA intron_variant MELA-AU 5 126258205 126258205 insertion of <=200bp - TTTATTTA upstream_gene_variant MELA-AU 5 126258209 126258209 single base substitution T C intron_variant MELA-AU 5 126258209 126258209 single base substitution T C upstream_gene_variant MELA-AU 5 126258218 126258218 single base substitution T C intron_variant MELA-AU 5 126258218 126258218 single base substitution T C upstream_gene_variant MELA-AU 5 126258243 126258244 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 5 126258243 126258244 multiple base substitution (>=2bp and <=200bp) TA AT upstream_gene_variant MELA-AU 5 126258297 126258297 single base substitution G T intron_variant MELA-AU 5 126258297 126258297 single base substitution G T upstream_gene_variant MELA-AU 5 126258684 126258684 single base substitution A T intron_variant MELA-AU 5 126258684 126258684 single base substitution A T upstream_gene_variant MELA-AU 5 126258842 126258842 single base substitution A G intron_variant MELA-AU 5 126258842 126258842 single base substitution A G upstream_gene_variant MELA-AU 5 126258859 126258859 single base substitution A T intron_variant MELA-AU 5 126258859 126258859 single base substitution A T upstream_gene_variant MELA-AU 5 126258998 126258998 single base substitution G A intron_variant MELA-AU 5 126259323 126259323 single base substitution G A intron_variant MELA-AU 5 126259730 126259730 single base substitution G A intron_variant MELA-AU 5 126259784 126259784 single base substitution G A intron_variant MELA-AU 5 126259909 126259909 single base substitution C T intron_variant MELA-AU 5 126260329 126260329 single base substitution A T intron_variant MELA-AU 5 126261369 126261369 single base substitution G A intron_variant MELA-AU 5 126261590 126261590 single base substitution A G intron_variant MELA-AU 5 126261638 126261638 single base substitution G A intron_variant MELA-AU 5 126261859 126261859 single base substitution C T intron_variant MELA-AU 5 126261943 126261943 single base substitution C T intron_variant MELA-AU 5 126261962 126261962 single base substitution G A intron_variant MELA-AU 5 126262030 126262030 single base substitution G A intron_variant MELA-AU 5 126262650 126262650 single base substitution C T intron_variant MELA-AU 5 126263033 126263033 single base substitution C T intron_variant MELA-AU 5 126263882 126263882 single base substitution A T intron_variant MELA-AU 5 126264951 126264951 single base substitution C T intron_variant MELA-AU 5 126265300 126265300 single base substitution C T intron_variant MELA-AU 5 126265485 126265485 single base substitution G A intron_variant MELA-AU 5 126265641 126265641 single base substitution G T intron_variant MELA-AU 5 126265643 126265643 single base substitution T A intron_variant MELA-AU 5 126266742 126266742 single base substitution G A intron_variant MELA-AU 5 126267124 126267124 single base substitution C T intron_variant MELA-AU 5 126267124 126267125 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 126267554 126267554 single base substitution G A intron_variant MELA-AU 5 126268173 126268173 single base substitution G A intron_variant MELA-AU 5 126268262 126268262 single base substitution G A intron_variant MELA-AU 5 126269131 126269131 single base substitution G A intron_variant MELA-AU 5 126269200 126269200 single base substitution G A intron_variant MELA-AU 5 126269328 126269328 single base substitution G A intron_variant MELA-AU 5 126269448 126269448 single base substitution C T intron_variant MELA-AU 5 126270149 126270149 single base substitution G C intron_variant MELA-AU 5 126270210 126270210 single base substitution G A intron_variant MELA-AU 5 126270402 126270402 single base substitution G A intron_variant MELA-AU 5 126270519 126270519 single base substitution C A intron_variant MELA-AU 5 126271046 126271046 single base substitution C T intron_variant MELA-AU 5 126271144 126271144 single base substitution G A intron_variant MELA-AU 5 126271912 126271912 single base substitution T C intron_variant MELA-AU 5 126272042 126272042 single base substitution A G intron_variant MELA-AU 5 126272170 126272184 deletion of <=200bp AAGGCTTGGTGAAAA - intron_variant MELA-AU 5 126272322 126272322 single base substitution G A intron_variant MELA-AU 5 126272397 126272397 single base substitution G A intron_variant MELA-AU 5 126272599 126272599 single base substitution C T intron_variant MELA-AU 5 126273069 126273069 single base substitution C T intron_variant MELA-AU 5 126273300 126273300 single base substitution G A intron_variant MELA-AU 5 126273473 126273473 single base substitution G A intron_variant MELA-AU 5 126274564 126274564 single base substitution C T intron_variant MELA-AU 5 126274728 126274728 single base substitution C T intron_variant MELA-AU 5 126274729 126274729 single base substitution C T intron_variant MELA-AU 5 126274984 126274984 single base substitution C T intron_variant MELA-AU 5 126275165 126275165 single base substitution C T intron_variant MELA-AU 5 126275342 126275342 single base substitution G A intron_variant MELA-AU 5 126276145 126276145 single base substitution C T intron_variant MELA-AU 5 126276184 126276184 single base substitution G A intron_variant MELA-AU 5 126277195 126277195 single base substitution C T intron_variant MELA-AU 5 126277910 126277910 single base substitution C T intron_variant MELA-AU 5 126278481 126278481 single base substitution A G intron_variant MELA-AU 5 126278879 126278879 single base substitution G A intron_variant MELA-AU 5 126278880 126278880 single base substitution G A intron_variant MELA-AU 5 126278935 126278935 single base substitution G A intron_variant MELA-AU 5 126279139 126279139 single base substitution G A intron_variant MELA-AU 5 126279159 126279159 single base substitution C T intron_variant MELA-AU 5 126279283 126279283 single base substitution A T intron_variant MELA-AU 5 126279851 126279851 single base substitution G A intron_variant MELA-AU 5 126279897 126279897 single base substitution C T intron_variant MELA-AU 5 126280557 126280557 single base substitution G A intron_variant MELA-AU 5 126280957 126280957 single base substitution C T intron_variant MELA-AU 5 126281332 126281332 single base substitution C T intron_variant MELA-AU 5 126281642 126281642 single base substitution G T intron_variant MELA-AU 5 126282018 126282018 single base substitution C T exon_variant MELA-AU 5 126282018 126282018 single base substitution C T intron_variant MELA-AU 5 126282163 126282163 single base substitution G A intron_variant MELA-AU 5 126282315 126282315 single base substitution T C intron_variant MELA-AU 5 126282506 126282506 single base substitution G A intron_variant MELA-AU 5 126282661 126282661 single base substitution C T intron_variant MELA-AU 5 126283236 126283236 single base substitution C T intron_variant MELA-AU 5 126283584 126283584 single base substitution G A intron_variant MELA-AU 5 126284060 126284060 single base substitution C G intron_variant MELA-AU 5 126284115 126284115 single base substitution G A intron_variant MELA-AU 5 126284917 126284917 single base substitution G A intron_variant MELA-AU 5 126284956 126284956 single base substitution C T intron_variant MELA-AU 5 126285021 126285021 single base substitution G A intron_variant MELA-AU 5 126285068 126285068 single base substitution G A intron_variant MELA-AU 5 126286004 126286004 single base substitution C T intron_variant MELA-AU 5 126286328 126286328 single base substitution C T intron_variant MELA-AU 5 126286439 126286439 single base substitution C T intron_variant MELA-AU 5 126286703 126286703 single base substitution C T intron_variant MELA-AU 5 126287084 126287084 single base substitution C T intron_variant MELA-AU 5 126287155 126287155 single base substitution C T intron_variant MELA-AU 5 126287502 126287502 single base substitution G A intron_variant MELA-AU 5 126287898 126287898 single base substitution G A intron_variant MELA-AU 5 126287981 126287981 single base substitution G A intron_variant MELA-AU 5 126288244 126288244 single base substitution G A intron_variant MELA-AU 5 126288684 126288684 single base substitution G A intron_variant MELA-AU 5 126289229 126289229 single base substitution G A intron_variant MELA-AU 5 126289232 126289232 single base substitution C T intron_variant MELA-AU 5 126289299 126289299 single base substitution G A intron_variant MELA-AU 5 126289646 126289646 single base substitution G A intron_variant MELA-AU 5 126289762 126289762 single base substitution G A intron_variant MELA-AU 5 126289850 126289850 single base substitution G C intron_variant MELA-AU 5 126290214 126290214 single base substitution C T intron_variant MELA-AU 5 126290906 126290906 single base substitution G A intron_variant MELA-AU 5 126291545 126291545 single base substitution G A intron_variant MELA-AU 5 126292263 126292263 single base substitution G A intron_variant MELA-AU 5 126292264 126292264 single base substitution G A intron_variant MELA-AU 5 126292327 126292327 single base substitution G A intron_variant MELA-AU 5 126292964 126292964 single base substitution T A intron_variant MELA-AU 5 126293429 126293429 single base substitution G A intron_variant MELA-AU 5 126293559 126293559 single base substitution G C intron_variant MELA-AU 5 126293741 126293741 single base substitution G A intron_variant MELA-AU 5 126294309 126294309 single base substitution G T intron_variant MELA-AU 5 126294689 126294689 single base substitution G A intron_variant MELA-AU 5 126295050 126295050 single base substitution G A intron_variant MELA-AU 5 126295721 126295721 single base substitution G A intron_variant MELA-AU 5 126296290 126296290 single base substitution G A intron_variant MELA-AU 5 126297194 126297194 single base substitution G A intron_variant MELA-AU 5 126297936 126297936 single base substitution A C intron_variant MELA-AU 5 126298148 126298148 single base substitution A G intron_variant MELA-AU 5 126298177 126298177 single base substitution A C intron_variant MELA-AU 5 126298522 126298522 single base substitution T C intron_variant MELA-AU 5 126299160 126299160 single base substitution T G intron_variant MELA-AU 5 126299296 126299296 single base substitution G A intron_variant MELA-AU 5 126300186 126300186 single base substitution C T intron_variant MELA-AU 5 126300264 126300264 single base substitution G A intron_variant MELA-AU 5 126300342 126300342 single base substitution G A intron_variant MELA-AU 5 126300615 126300615 single base substitution G A intron_variant MELA-AU 5 126301936 126301936 single base substitution T C intron_variant MELA-AU 5 126302324 126302324 single base substitution G A intron_variant MELA-AU 5 126302989 126302989 single base substitution G A intron_variant MELA-AU 5 126303334 126303334 single base substitution G T intron_variant MELA-AU 5 126304850 126304850 single base substitution A T intron_variant MELA-AU 5 126304975 126304975 single base substitution G T intron_variant MELA-AU 5 126306191 126306191 single base substitution G A intron_variant MELA-AU 5 126306770 126306770 single base substitution T A intron_variant MELA-AU 5 126307880 126307880 single base substitution G A intron_variant MELA-AU 5 126308161 126308161 single base substitution G A intron_variant MELA-AU 5 126308555 126308555 single base substitution A T intron_variant MELA-AU 5 126308614 126308614 single base substitution C T intron_variant MELA-AU 5 126309784 126309784 single base substitution G A intron_variant MELA-AU 5 126309867 126309867 single base substitution G A intron_variant MELA-AU 5 126309942 126309942 single base substitution G A intron_variant MELA-AU 5 126310007 126310007 single base substitution C T intron_variant MELA-AU 5 126310251 126310251 single base substitution G A intron_variant MELA-AU 5 126310388 126310388 single base substitution C T intron_variant MELA-AU 5 126310610 126310610 single base substitution G A intron_variant MELA-AU 5 126310872 126310872 single base substitution C T intron_variant MELA-AU 5 126310973 126310973 single base substitution G A intron_variant MELA-AU 5 126311164 126311164 single base substitution C T intron_variant MELA-AU 5 126311324 126311324 single base substitution G A intron_variant MELA-AU 5 126311814 126311814 single base substitution C T intron_variant MELA-AU 5 126313613 126313613 single base substitution G A intron_variant MELA-AU 5 126314079 126314079 single base substitution G A intron_variant MELA-AU 5 126314086 126314086 single base substitution G C intron_variant MELA-AU 5 126314599 126314599 single base substitution G A intron_variant MELA-AU 5 126315091 126315091 single base substitution G A intron_variant MELA-AU 5 126315096 126315096 single base substitution G A intron_variant MELA-AU 5 126315196 126315196 single base substitution T C intron_variant MELA-AU 5 126315567 126315567 single base substitution G A intron_variant MELA-AU 5 126315706 126315706 single base substitution C T intron_variant MELA-AU 5 126315756 126315756 single base substitution G A intron_variant MELA-AU 5 126316690 126316690 single base substitution C T intron_variant MELA-AU 5 126316893 126316893 single base substitution C T intron_variant MELA-AU 5 126317049 126317049 single base substitution C T intron_variant MELA-AU 5 126317617 126317617 single base substitution C T intron_variant MELA-AU 5 126317705 126317705 single base substitution G A intron_variant MELA-AU 5 126317880 126317880 single base substitution C T intron_variant MELA-AU 5 126318946 126318946 single base substitution G A intron_variant MELA-AU 5 126319004 126319004 single base substitution G A intron_variant MELA-AU 5 126319162 126319162 single base substitution C T intron_variant MELA-AU 5 126319446 126319446 single base substitution G A intron_variant MELA-AU 5 126319965 126319965 single base substitution A T intron_variant MELA-AU 5 126319966 126319966 single base substitution G A intron_variant MELA-AU 5 126320247 126320247 single base substitution G A intron_variant MELA-AU 5 126320295 126320295 single base substitution C T intron_variant MELA-AU 5 126320303 126320303 single base substitution G A intron_variant MELA-AU 5 126320512 126320512 single base substitution C T intron_variant MELA-AU 5 126321285 126321285 single base substitution C T intron_variant MELA-AU 5 126321478 126321478 single base substitution A G intron_variant MELA-AU 5 126321582 126321582 single base substitution C T intron_variant MELA-AU 5 126321635 126321635 single base substitution G A intron_variant MELA-AU 5 126321645 126321645 single base substitution C T intron_variant MELA-AU 5 126322252 126322252 single base substitution C T intron_variant MELA-AU 5 126322386 126322386 single base substitution C T intron_variant MELA-AU 5 126323376 126323376 single base substitution G A intron_variant MELA-AU 5 126323612 126323612 single base substitution A T intron_variant MELA-AU 5 126324397 126324397 single base substitution A G intron_variant MELA-AU 5 126325162 126325162 single base substitution G A intron_variant MELA-AU 5 126325192 126325192 single base substitution C T intron_variant MELA-AU 5 126325747 126325747 single base substitution C T intron_variant MELA-AU 5 126326019 126326019 single base substitution G A intron_variant MELA-AU 5 126326697 126326697 single base substitution C T intron_variant MELA-AU 5 126326831 126326831 single base substitution G A intron_variant MELA-AU 5 126327102 126327102 single base substitution C T intron_variant MELA-AU 5 126327538 126327538 single base substitution C T intron_variant MELA-AU 5 126327709 126327709 single base substitution G A intron_variant MELA-AU 5 126328254 126328254 single base substitution G A intron_variant MELA-AU 5 126328527 126328527 single base substitution G A intron_variant MELA-AU 5 126328686 126328686 single base substitution G A intron_variant MELA-AU 5 126328921 126328921 single base substitution G A intron_variant MELA-AU 5 126329251 126329251 single base substitution G A intron_variant MELA-AU 5 126329399 126329399 single base substitution A T intron_variant MELA-AU 5 126330091 126330091 single base substitution G A intron_variant MELA-AU 5 126331198 126331198 single base substitution G A intron_variant MELA-AU 5 126331561 126331561 single base substitution G A intron_variant MELA-AU 5 126331814 126331814 single base substitution G A intron_variant MELA-AU 5 126332082 126332082 single base substitution T C intron_variant MELA-AU 5 126332310 126332310 single base substitution G A intron_variant MELA-AU 5 126332311 126332311 single base substitution G A intron_variant MELA-AU 5 126332485 126332485 single base substitution A G intron_variant MELA-AU 5 126332662 126332662 single base substitution G A intron_variant MELA-AU 5 126332867 126332867 single base substitution A C intron_variant MELA-AU 5 126332904 126332904 single base substitution G A intron_variant MELA-AU 5 126332969 126332969 single base substitution T C intron_variant MELA-AU 5 126333188 126333188 single base substitution G A intron_variant MELA-AU 5 126333803 126333803 single base substitution G A intron_variant MELA-AU 5 126333949 126333949 single base substitution G A intron_variant MELA-AU 5 126336494 126336494 single base substitution G A intron_variant MELA-AU 5 126336559 126336559 single base substitution C T intron_variant MELA-AU 5 126337427 126337427 single base substitution C T intron_variant MELA-AU 5 126339147 126339147 single base substitution G A intron_variant MELA-AU 5 126339491 126339491 single base substitution A C intron_variant MELA-AU 5 126339998 126339998 single base substitution C T intron_variant MELA-AU 5 126340094 126340094 single base substitution G A intron_variant MELA-AU 5 126340393 126340394 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 126340923 126340923 single base substitution G A intron_variant MELA-AU 5 126342021 126342021 single base substitution C T intron_variant MELA-AU 5 126342097 126342097 single base substitution G A intron_variant MELA-AU 5 126342238 126342238 single base substitution T A intron_variant MELA-AU 5 126342761 126342761 single base substitution A C intron_variant MELA-AU 5 126343608 126343608 single base substitution G A intron_variant MELA-AU 5 126344414 126344414 single base substitution T G intron_variant MELA-AU 5 126344684 126344684 single base substitution G A intron_variant MELA-AU 5 126344835 126344836 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 126344836 126344836 single base substitution G A intron_variant MELA-AU 5 126344914 126344914 single base substitution G A intron_variant MELA-AU 5 126345299 126345299 single base substitution G A intron_variant MELA-AU 5 126345566 126345566 single base substitution C A intron_variant MELA-AU 5 126346328 126346328 single base substitution G A intron_variant MELA-AU 5 126346920 126346920 single base substitution C T intron_variant MELA-AU 5 126347324 126347324 single base substitution G A intron_variant MELA-AU 5 126347863 126347863 single base substitution G A intron_variant MELA-AU 5 126348634 126348634 single base substitution A G intron_variant MELA-AU 5 126349532 126349532 single base substitution G A intron_variant MELA-AU 5 126350238 126350238 single base substitution G A intron_variant MELA-AU 5 126350271 126350271 single base substitution G A intron_variant MELA-AU 5 126350529 126350529 single base substitution G A intron_variant MELA-AU 5 126350619 126350619 single base substitution A G intron_variant MELA-AU 5 126350717 126350717 single base substitution G A intron_variant MELA-AU 5 126350807 126350807 single base substitution A T intron_variant MELA-AU 5 126350882 126350882 single base substitution G A intron_variant MELA-AU 5 126351051 126351051 single base substitution G A intron_variant MELA-AU 5 126351590 126351590 single base substitution G A intron_variant MELA-AU 5 126351698 126351698 single base substitution G A intron_variant MELA-AU 5 126352141 126352141 single base substitution G A intron_variant MELA-AU 5 126353378 126353378 single base substitution G A intron_variant MELA-AU 5 126353990 126353990 single base substitution G A intron_variant MELA-AU 5 126354046 126354046 single base substitution G A intron_variant MELA-AU 5 126354486 126354486 single base substitution G A intron_variant MELA-AU 5 126354682 126354682 single base substitution T C intron_variant MELA-AU 5 126354831 126354831 single base substitution G A intron_variant MELA-AU 5 126354903 126354903 single base substitution G A intron_variant MELA-AU 5 126355068 126355068 single base substitution G A intron_variant MELA-AU 5 126355114 126355114 single base substitution G A intron_variant MELA-AU 5 126355853 126355853 single base substitution C T intron_variant MELA-AU 5 126356099 126356099 single base substitution G A intron_variant MELA-AU 5 126356100 126356100 single base substitution G A intron_variant MELA-AU 5 126356182 126356182 single base substitution G A intron_variant MELA-AU 5 126356945 126356945 single base substitution G A intron_variant MELA-AU 5 126357012 126357012 single base substitution A G intron_variant MELA-AU 5 126357851 126357851 single base substitution T C intron_variant MELA-AU 5 126358098 126358098 single base substitution G A intron_variant MELA-AU 5 126358128 126358128 single base substitution G A intron_variant MELA-AU 5 126358586 126358586 single base substitution G A intron_variant MELA-AU 5 126358718 126358718 single base substitution G A intron_variant MELA-AU 5 126358720 126358720 single base substitution C T intron_variant MELA-AU 5 126359135 126359135 single base substitution C T intron_variant MELA-AU 5 126359257 126359257 single base substitution T C intron_variant MELA-AU 5 126359331 126359331 single base substitution G A intron_variant MELA-AU 5 126359494 126359494 single base substitution C T intron_variant MELA-AU 5 126359780 126359780 single base substitution G A intron_variant MELA-AU 5 126360325 126360325 single base substitution G A intron_variant MELA-AU 5 126360764 126360764 single base substitution G A intron_variant MELA-AU 5 126360778 126360778 single base substitution G A intron_variant MELA-AU 5 126361134 126361134 single base substitution C T intron_variant MELA-AU 5 126361741 126361741 single base substitution G A intron_variant MELA-AU 5 126363632 126363632 single base substitution G A intron_variant MELA-AU 5 126363672 126363672 single base substitution G A intron_variant MELA-AU 5 126365683 126365683 single base substitution A C exon_variant MELA-AU 5 126365683 126365683 single base substitution A C intron_variant MELA-AU 5 126365815 126365815 single base substitution A C exon_variant MELA-AU 5 126365815 126365815 single base substitution A C intron_variant MELA-AU 5 126365906 126365906 single base substitution C A intron_variant MELA-AU 5 126365906 126365906 single base substitution C A upstream_gene_variant MELA-AU 5 126366151 126366151 single base substitution T A 5_prime_UTR_variant MELA-AU 5 126366151 126366151 single base substitution T A upstream_gene_variant MELA-AU 5 126366274 126366274 single base substitution G C 5_prime_UTR_variant MELA-AU 5 126366274 126366274 single base substitution G C upstream_gene_variant MELA-AU 5 126366716 126366716 single base substitution A C upstream_gene_variant MELA-AU 5 126366769 126366769 single base substitution C T upstream_gene_variant MELA-AU 5 126367113 126367113 single base substitution C T upstream_gene_variant MELA-AU 5 126367564 126367564 single base substitution G A upstream_gene_variant MELA-AU 5 126368221 126368221 single base substitution G A upstream_gene_variant MELA-AU 5 126368522 126368522 single base substitution G A upstream_gene_variant MELA-AU 5 126368918 126368918 single base substitution G A upstream_gene_variant MELA-AU 5 126369343 126369343 single base substitution G A upstream_gene_variant MELA-AU 5 126369466 126369466 single base substitution C T upstream_gene_variant MELA-AU 5 126369555 126369555 single base substitution C T upstream_gene_variant MELA-AU 5 126369561 126369561 single base substitution T C upstream_gene_variant MELA-AU 5 126369797 126369797 single base substitution T C upstream_gene_variant MELA-AU 5 126370182 126370182 single base substitution C T upstream_gene_variant MELA-AU 5 126370690 126370690 single base substitution G A upstream_gene_variant MELA-AU 5 126371168 126371168 single base substitution G A upstream_gene_variant MELA-AU 5 126371340 126371340 single base substitution G A upstream_gene_variant ORCA-IN 5 126200623 126200623 deletion of <=200bp T - downstream_gene_variant ORCA-IN 5 126231846 126231846 single base substitution C T downstream_gene_variant ORCA-IN 5 126231846 126231846 single base substitution C T intron_variant ORCA-IN 5 126250777 126250777 single base substitution G T exon_variant ORCA-IN 5 126250777 126250777 single base substitution G T missense_variant Q80K 238C>A ORCA-IN 5 126250777 126250777 single base substitution G T upstream_gene_variant ORCA-IN 5 126272699 126272699 single base substitution T G intron_variant ORCA-IN 5 126281388 126281388 single base substitution T C intron_variant ORCA-IN 5 126281974 126281974 single base substitution G A intron_variant ORCA-IN 5 126291473 126291473 single base substitution G C intron_variant ORCA-IN 5 126298522 126298522 single base substitution T C intron_variant ORCA-IN 5 126304421 126304421 single base substitution C A intron_variant ORCA-IN 5 126334187 126334187 single base substitution C G intron_variant ORCA-IN 5 126335974 126335974 single base substitution C G intron_variant ORCA-IN 5 126336084 126336084 single base substitution G A intron_variant ORCA-IN 5 126341277 126341277 single base substitution T G intron_variant ORCA-IN 5 126346675 126346675 single base substitution G A intron_variant ORCA-IN 5 126354563 126354563 single base substitution T C intron_variant ORCA-IN 5 126367244 126367244 single base substitution G A upstream_gene_variant OV-AU 5 126201498 126201498 single base substitution A T downstream_gene_variant OV-AU 5 126204527 126204527 single base substitution T C 3_prime_UTR_variant OV-AU 5 126204527 126204527 single base substitution T C downstream_gene_variant OV-AU 5 126209615 126209615 single base substitution C T intron_variant OV-AU 5 126212187 126212187 single base substitution A G intron_variant OV-AU 5 126213402 126213402 single base substitution A G intron_variant OV-AU 5 126214877 126214877 single base substitution A G intron_variant OV-AU 5 126214877 126214877 single base substitution A G upstream_gene_variant OV-AU 5 126215312 126215312 single base substitution C G intron_variant OV-AU 5 126215312 126215312 single base substitution C G upstream_gene_variant OV-AU 5 126218452 126218452 single base substitution C T intron_variant OV-AU 5 126218452 126218452 single base substitution C T upstream_gene_variant OV-AU 5 126220380 126220380 single base substitution C A intron_variant OV-AU 5 126242144 126242144 single base substitution T A intron_variant OV-AU 5 126243878 126243878 single base substitution A G intron_variant OV-AU 5 126246746 126246746 single base substitution C T downstream_gene_variant OV-AU 5 126246746 126246746 single base substitution C T intron_variant OV-AU 5 126248272 126248272 single base substitution A T downstream_gene_variant OV-AU 5 126248272 126248272 single base substitution A T intron_variant OV-AU 5 126252199 126252199 single base substitution C G intron_variant OV-AU 5 126252199 126252199 single base substitution C G upstream_gene_variant OV-AU 5 126258850 126258850 single base substitution A T intron_variant OV-AU 5 126258850 126258850 single base substitution A T upstream_gene_variant OV-AU 5 126267125 126267125 single base substitution C G intron_variant OV-AU 5 126280087 126280087 single base substitution C T intron_variant OV-AU 5 126283342 126283342 single base substitution G A intron_variant OV-AU 5 126283692 126283692 single base substitution A C intron_variant OV-AU 5 126290927 126290927 single base substitution T C intron_variant OV-AU 5 126294381 126294381 single base substitution T A intron_variant OV-AU 5 126294671 126294671 single base substitution T G intron_variant OV-AU 5 126302486 126302486 single base substitution T A intron_variant OV-AU 5 126302923 126302923 single base substitution A T intron_variant OV-AU 5 126303508 126303508 single base substitution G T intron_variant OV-AU 5 126309177 126309177 single base substitution C T intron_variant OV-AU 5 126312198 126312198 single base substitution T C intron_variant OV-AU 5 126319843 126319843 single base substitution C A intron_variant OV-AU 5 126326556 126326556 single base substitution A G intron_variant OV-AU 5 126341071 126341071 single base substitution A C intron_variant OV-AU 5 126346558 126346558 single base substitution G C intron_variant OV-AU 5 126346806 126346806 single base substitution A G intron_variant OV-AU 5 126361286 126361286 single base substitution G A intron_variant OV-AU 5 126365624 126365624 single base substitution C G exon_variant OV-AU 5 126365624 126365624 single base substitution C G intron_variant OV-AU 5 126366969 126366969 single base substitution G C upstream_gene_variant OV-AU 5 126370948 126370948 single base substitution T C upstream_gene_variant PACA-AU 5 126205523 126205523 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 5 126205523 126205523 deletion of <=200bp A - downstream_gene_variant PACA-AU 5 126207409 126207409 single base substitution T C intron_variant PACA-AU 5 126214053 126214053 single base substitution G A exon_variant PACA-AU 5 126214053 126214053 single base substitution G A missense_variant R143W 427C>T PACA-AU 5 126219245 126219245 single base substitution C T intron_variant PACA-AU 5 126221748 126221748 single base substitution A G intron_variant PACA-AU 5 126237659 126237659 single base substitution T C intron_variant PACA-AU 5 126242151 126242151 single base substitution C G intron_variant PACA-AU 5 126250329 126250329 single base substitution G A downstream_gene_variant PACA-AU 5 126250329 126250329 single base substitution G A intron_variant PACA-AU 5 126253750 126253750 single base substitution C T exon_variant PACA-AU 5 126253750 126253750 single base substitution C T synonymous_variant P38P 114G>A PACA-AU 5 126253750 126253750 single base substitution C T upstream_gene_variant PACA-AU 5 126262183 126262183 deletion of <=200bp C - intron_variant PACA-AU 5 126280755 126280755 single base substitution A G intron_variant PACA-AU 5 126282484 126282484 single base substitution G C intron_variant PACA-AU 5 126294381 126294381 single base substitution T A intron_variant PACA-AU 5 126294868 126294868 single base substitution G A intron_variant PACA-AU 5 126295590 126295590 single base substitution T C intron_variant PACA-AU 5 126298108 126298108 single base substitution G A intron_variant PACA-AU 5 126303473 126303473 single base substitution C T intron_variant PACA-AU 5 126303540 126303540 single base substitution C G intron_variant PACA-AU 5 126304975 126304975 single base substitution G A intron_variant PACA-AU 5 126310090 126310090 single base substitution C T intron_variant PACA-AU 5 126312594 126312594 single base substitution T A intron_variant PACA-AU 5 126320172 126320177 deletion of <=200bp CAGGAT - intron_variant PACA-AU 5 126325023 126325023 single base substitution C A intron_variant PACA-AU 5 126328739 126328749 deletion of <=200bp CAGGCGTGAGC - intron_variant PACA-AU 5 126335154 126335154 single base substitution C A intron_variant PACA-AU 5 126335780 126335780 single base substitution G A intron_variant PACA-AU 5 126349093 126349093 single base substitution G T intron_variant PACA-AU 5 126349729 126349729 insertion of <=200bp - A intron_variant PACA-AU 5 126357698 126357698 single base substitution T C intron_variant PACA-AU 5 126360013 126360013 single base substitution A T intron_variant PACA-AU 5 126366117 126366117 single base substitution C T 5_prime_UTR_variant PACA-AU 5 126366117 126366117 single base substitution C T upstream_gene_variant PACA-AU 5 126368039 126368039 single base substitution T C upstream_gene_variant PACA-CA 5 126199764 126199764 single base substitution G A downstream_gene_variant PACA-CA 5 126200147 126200147 deletion of <=200bp T - downstream_gene_variant PACA-CA 5 126200873 126200873 single base substitution C G downstream_gene_variant PACA-CA 5 126202244 126202244 deletion of <=200bp A - downstream_gene_variant PACA-CA 5 126203758 126203758 single base substitution C G 3_prime_UTR_variant PACA-CA 5 126203758 126203758 single base substitution C G downstream_gene_variant PACA-CA 5 126206913 126206913 single base substitution C G intron_variant PACA-CA 5 126207969 126207969 single base substitution C A intron_variant PACA-CA 5 126210462 126210462 single base substitution T C intron_variant PACA-CA 5 126210589 126210589 single base substitution C T intron_variant PACA-CA 5 126216089 126216089 single base substitution T C intron_variant PACA-CA 5 126216089 126216089 single base substitution T C upstream_gene_variant PACA-CA 5 126217454 126217454 deletion of <=200bp T - intron_variant PACA-CA 5 126217454 126217454 deletion of <=200bp T - upstream_gene_variant PACA-CA 5 126220077 126220077 single base substitution G A intron_variant PACA-CA 5 126223683 126223683 single base substitution T C intron_variant PACA-CA 5 126229196 126229196 single base substitution G C intron_variant PACA-CA 5 126231074 126231074 single base substitution C T downstream_gene_variant PACA-CA 5 126231074 126231074 single base substitution C T intron_variant PACA-CA 5 126237889 126237889 single base substitution A G intron_variant PACA-CA 5 126242145 126242145 single base substitution C G intron_variant PACA-CA 5 126248782 126248782 single base substitution T G downstream_gene_variant PACA-CA 5 126248782 126248782 single base substitution T G intron_variant PACA-CA 5 126249246 126249246 single base substitution G T downstream_gene_variant PACA-CA 5 126249246 126249246 single base substitution G T intron_variant PACA-CA 5 126250257 126250257 single base substitution A G downstream_gene_variant PACA-CA 5 126250257 126250257 single base substitution A G intron_variant PACA-CA 5 126252410 126252410 single base substitution C G intron_variant PACA-CA 5 126252410 126252410 single base substitution C G upstream_gene_variant PACA-CA 5 126255736 126255736 single base substitution T A intron_variant PACA-CA 5 126255736 126255736 single base substitution T A upstream_gene_variant PACA-CA 5 126255770 126255770 single base substitution T C intron_variant PACA-CA 5 126255770 126255770 single base substitution T C upstream_gene_variant PACA-CA 5 126261389 126261389 insertion of <=200bp - G intron_variant PACA-CA 5 126262031 126262031 single base substitution G A intron_variant PACA-CA 5 126264176 126264176 single base substitution A T intron_variant PACA-CA 5 126264185 126264185 single base substitution A T intron_variant PACA-CA 5 126269941 126269941 single base substitution A T intron_variant PACA-CA 5 126272061 126272061 single base substitution C G intron_variant PACA-CA 5 126277393 126277393 single base substitution C T intron_variant PACA-CA 5 126277472 126277472 single base substitution C G intron_variant PACA-CA 5 126277546 126277546 single base substitution T G intron_variant PACA-CA 5 126277647 126277647 single base substitution T C intron_variant PACA-CA 5 126278145 126278145 single base substitution A G intron_variant PACA-CA 5 126281756 126281756 single base substitution G C intron_variant PACA-CA 5 126288540 126288540 single base substitution G A intron_variant PACA-CA 5 126292129 126292129 single base substitution G A intron_variant PACA-CA 5 126293041 126293041 single base substitution C A intron_variant PACA-CA 5 126294381 126294381 single base substitution T A intron_variant PACA-CA 5 126297934 126297934 single base substitution C A intron_variant PACA-CA 5 126299146 126299146 single base substitution A T intron_variant PACA-CA 5 126299157 126299157 single base substitution C T intron_variant PACA-CA 5 126299303 126299303 single base substitution G C intron_variant PACA-CA 5 126301480 126301480 single base substitution A T intron_variant PACA-CA 5 126306319 126306319 single base substitution G C intron_variant PACA-CA 5 126307153 126307153 single base substitution A G intron_variant PACA-CA 5 126307456 126307456 single base substitution C A intron_variant PACA-CA 5 126309087 126309087 single base substitution G A intron_variant PACA-CA 5 126310185 126310185 deletion of <=200bp A - intron_variant PACA-CA 5 126311055 126311055 single base substitution G C intron_variant PACA-CA 5 126325026 126325026 single base substitution C A intron_variant PACA-CA 5 126325029 126325029 single base substitution C A intron_variant PACA-CA 5 126328691 126328691 single base substitution C G intron_variant PACA-CA 5 126330081 126330081 single base substitution G T intron_variant PACA-CA 5 126331836 126331836 single base substitution C T intron_variant PACA-CA 5 126334725 126334725 single base substitution T G intron_variant PACA-CA 5 126335828 126335828 single base substitution C A intron_variant PACA-CA 5 126340755 126340755 single base substitution A C intron_variant PACA-CA 5 126341788 126341788 single base substitution G A intron_variant PACA-CA 5 126341790 126341790 single base substitution G C intron_variant PACA-CA 5 126342691 126342691 single base substitution A T intron_variant PACA-CA 5 126350483 126350483 single base substitution C A intron_variant PACA-CA 5 126354226 126354226 single base substitution T C intron_variant PACA-CA 5 126360307 126360307 single base substitution C A intron_variant PACA-CA 5 126360310 126360318 deletion of <=200bp TCGTAAAGA - intron_variant PAEN-AU 5 126249361 126249361 single base substitution A G downstream_gene_variant PAEN-AU 5 126249361 126249361 single base substitution A G intron_variant PAEN-AU 5 126321698 126321698 single base substitution G A intron_variant PAEN-IT 5 126231032 126231032 single base substitution C A downstream_gene_variant PAEN-IT 5 126231032 126231032 single base substitution C A intron_variant PAEN-IT 5 126239460 126239460 single base substitution T C intron_variant PAEN-IT 5 126278386 126278386 single base substitution T G intron_variant PAEN-IT 5 126330557 126330557 single base substitution G T intron_variant PAEN-IT 5 126346421 126346421 single base substitution C T intron_variant PAEN-IT 5 126349849 126349849 single base substitution G C intron_variant PAEN-IT 5 126370795 126370795 single base substitution G T upstream_gene_variant PBCA-DE 5 126208032 126208032 single base substitution G A intron_variant PBCA-DE 5 126209101 126209101 single base substitution G A intron_variant PBCA-DE 5 126220690 126220690 single base substitution G A intron_variant PBCA-DE 5 126221683 126221684 deletion of <=200bp TA - intron_variant PBCA-DE 5 126225951 126225951 deletion of <=200bp T - intron_variant PBCA-DE 5 126235829 126235829 insertion of <=200bp - T intron_variant PBCA-DE 5 126235892 126235892 single base substitution G T intron_variant PBCA-DE 5 126240354 126240354 deletion of <=200bp T - intron_variant PBCA-DE 5 126255736 126255736 single base substitution T A intron_variant PBCA-DE 5 126255736 126255736 single base substitution T A upstream_gene_variant PBCA-DE 5 126261090 126261090 insertion of <=200bp - T intron_variant PBCA-DE 5 126267263 126267264 deletion of <=200bp AC - intron_variant PBCA-DE 5 126270128 126270128 single base substitution T A intron_variant PBCA-DE 5 126276833 126276833 single base substitution C A intron_variant PBCA-DE 5 126277412 126277412 single base substitution A T intron_variant PBCA-DE 5 126277421 126277421 single base substitution G T intron_variant PBCA-DE 5 126282454 126282455 deletion of <=200bp GT - intron_variant PBCA-DE 5 126282585 126282585 single base substitution G A intron_variant PBCA-DE 5 126283083 126283083 single base substitution G A intron_variant PBCA-DE 5 126288842 126288842 insertion of <=200bp - T intron_variant PBCA-DE 5 126291748 126291748 single base substitution T G intron_variant PBCA-DE 5 126296176 126296176 single base substitution A T intron_variant PBCA-DE 5 126297935 126297936 deletion of <=200bp TA - intron_variant PBCA-DE 5 126298658 126298658 single base substitution G A intron_variant PBCA-DE 5 126300005 126300005 single base substitution C T intron_variant PBCA-DE 5 126305976 126305976 single base substitution C T intron_variant PBCA-DE 5 126306296 126306296 single base substitution T A intron_variant PBCA-DE 5 126316278 126316278 single base substitution G A intron_variant PBCA-DE 5 126325026 126325026 single base substitution C A intron_variant PBCA-DE 5 126333712 126333713 deletion of <=200bp AG - intron_variant PBCA-DE 5 126345850 126345850 single base substitution C T intron_variant PBCA-DE 5 126347133 126347133 single base substitution G T intron_variant PBCA-DE 5 126350161 126350161 single base substitution G A intron_variant PBCA-DE 5 126353260 126353260 single base substitution C T intron_variant PBCA-DE 5 126353978 126353978 single base substitution G A intron_variant PBCA-DE 5 126360497 126360497 single base substitution T A intron_variant PBCA-DE 5 126366389 126366389 single base substitution C T 5_prime_UTR_variant PBCA-DE 5 126366389 126366389 single base substitution C T upstream_gene_variant PRAD-CA 5 126198920 126198920 single base substitution T G downstream_gene_variant PRAD-CA 5 126266951 126266951 single base substitution T C intron_variant PRAD-CA 5 126282490 126282490 single base substitution C G intron_variant PRAD-CA 5 126323817 126323817 single base substitution G A intron_variant PRAD-CA 5 126357849 126357849 single base substitution T C intron_variant PRAD-UK 5 126226317 126226317 single base substitution T C intron_variant PRAD-UK 5 126227498 126227498 insertion of <=200bp - T intron_variant PRAD-UK 5 126242051 126242051 single base substitution G T intron_variant PRAD-UK 5 126242319 126242319 single base substitution C G intron_variant PRAD-UK 5 126248913 126248913 single base substitution C T downstream_gene_variant PRAD-UK 5 126248913 126248913 single base substitution C T intron_variant PRAD-UK 5 126254185 126254185 single base substitution G T intron_variant PRAD-UK 5 126254185 126254185 single base substitution G T upstream_gene_variant PRAD-UK 5 126255284 126255284 single base substitution G A intron_variant PRAD-UK 5 126255284 126255284 single base substitution G A upstream_gene_variant PRAD-UK 5 126260894 126260894 single base substitution G A intron_variant PRAD-UK 5 126281291 126281291 single base substitution G C intron_variant PRAD-UK 5 126323740 126323740 insertion of <=200bp - A intron_variant PRAD-UK 5 126323748 126323748 insertion of <=200bp - A intron_variant PRAD-UK 5 126325580 126325580 single base substitution C A intron_variant PRAD-UK 5 126340613 126340613 single base substitution C A intron_variant PRAD-UK 5 126345193 126345193 single base substitution A C intron_variant PRAD-UK 5 126346232 126346232 single base substitution C G intron_variant PRAD-UK 5 126354714 126354714 single base substitution C A intron_variant PRAD-UK 5 126362988 126362988 single base substitution C T intron_variant PRAD-UK 5 126364093 126364093 single base substitution A G intron_variant PRAD-UK 5 126365233 126365233 single base substitution G C intron_variant RECA-EU 5 126199306 126199306 single base substitution G T downstream_gene_variant RECA-EU 5 126232857 126232857 single base substitution G A downstream_gene_variant RECA-EU 5 126232857 126232857 single base substitution G A intron_variant RECA-EU 5 126252380 126252380 single base substitution G C intron_variant RECA-EU 5 126252380 126252380 single base substitution G C upstream_gene_variant RECA-EU 5 126263397 126263397 single base substitution C A intron_variant RECA-EU 5 126263867 126263867 single base substitution C A intron_variant RECA-EU 5 126291012 126291012 single base substitution G T intron_variant RECA-EU 5 126293879 126293879 single base substitution T A intron_variant RECA-EU 5 126299237 126299237 single base substitution C T intron_variant RECA-EU 5 126303928 126303928 single base substitution T A intron_variant RECA-EU 5 126305215 126305215 single base substitution G C intron_variant RECA-EU 5 126306011 126306011 single base substitution C T intron_variant RECA-EU 5 126334889 126334889 single base substitution A G intron_variant SKCA-BR 5 126202590 126202592 deletion of <=200bp AAG - downstream_gene_variant SKCA-BR 5 126203645 126203645 single base substitution A G 3_prime_UTR_variant SKCA-BR 5 126203645 126203645 single base substitution A G downstream_gene_variant SKCA-BR 5 126209101 126209102 deletion of <=200bp GA - intron_variant SKCA-BR 5 126211814 126211814 single base substitution G A intron_variant SKCA-BR 5 126215086 126215086 single base substitution C T intron_variant SKCA-BR 5 126215086 126215086 single base substitution C T upstream_gene_variant SKCA-BR 5 126218626 126218626 single base substitution G A intron_variant SKCA-BR 5 126218626 126218626 single base substitution G A upstream_gene_variant SKCA-BR 5 126220702 126220702 single base substitution G A intron_variant SKCA-BR 5 126221034 126221034 single base substitution T G intron_variant SKCA-BR 5 126222979 126222979 single base substitution C G intron_variant SKCA-BR 5 126227043 126227043 single base substitution G A intron_variant SKCA-BR 5 126227097 126227097 single base substitution C G intron_variant SKCA-BR 5 126227952 126227952 single base substitution C T intron_variant SKCA-BR 5 126228728 126228728 single base substitution G T intron_variant SKCA-BR 5 126229076 126229076 single base substitution G A intron_variant SKCA-BR 5 126229717 126229717 single base substitution A G downstream_gene_variant SKCA-BR 5 126229717 126229717 single base substitution A G intron_variant SKCA-BR 5 126229726 126229726 single base substitution C G downstream_gene_variant SKCA-BR 5 126229726 126229726 single base substitution C G intron_variant SKCA-BR 5 126229727 126229727 single base substitution C T downstream_gene_variant SKCA-BR 5 126229727 126229727 single base substitution C T intron_variant SKCA-BR 5 126230697 126230697 single base substitution C T downstream_gene_variant SKCA-BR 5 126230697 126230697 single base substitution C T intron_variant SKCA-BR 5 126232032 126232032 single base substitution G T downstream_gene_variant SKCA-BR 5 126232032 126232032 single base substitution G T intron_variant SKCA-BR 5 126234349 126234349 single base substitution C T downstream_gene_variant SKCA-BR 5 126234349 126234349 single base substitution C T intron_variant SKCA-BR 5 126236196 126236196 single base substitution G A intron_variant SKCA-BR 5 126237430 126237430 single base substitution G A intron_variant SKCA-BR 5 126238233 126238233 single base substitution G A intron_variant SKCA-BR 5 126239645 126239645 insertion of <=200bp - TTCC intron_variant SKCA-BR 5 126241397 126241397 single base substitution G A intron_variant SKCA-BR 5 126242436 126242436 single base substitution C T intron_variant SKCA-BR 5 126243699 126243699 single base substitution G A intron_variant SKCA-BR 5 126244455 126244456 deletion of <=200bp TG - intron_variant SKCA-BR 5 126244833 126244833 single base substitution G A intron_variant SKCA-BR 5 126245102 126245102 single base substitution T C intron_variant SKCA-BR 5 126245812 126245812 single base substitution G A downstream_gene_variant SKCA-BR 5 126245812 126245812 single base substitution G A intron_variant SKCA-BR 5 126251366 126251366 single base substitution G A intron_variant SKCA-BR 5 126251366 126251366 single base substitution G A upstream_gene_variant SKCA-BR 5 126256521 126256521 single base substitution C T intron_variant SKCA-BR 5 126256521 126256521 single base substitution C T upstream_gene_variant SKCA-BR 5 126257797 126257797 single base substitution G A intron_variant SKCA-BR 5 126257797 126257797 single base substitution G A upstream_gene_variant SKCA-BR 5 126260714 126260714 single base substitution G A intron_variant SKCA-BR 5 126264220 126264220 single base substitution G A intron_variant SKCA-BR 5 126264275 126264275 single base substitution G A intron_variant SKCA-BR 5 126265064 126265064 single base substitution A C intron_variant SKCA-BR 5 126265070 126265070 single base substitution A T intron_variant SKCA-BR 5 126266392 126266392 single base substitution G A intron_variant SKCA-BR 5 126266632 126266632 single base substitution G A intron_variant SKCA-BR 5 126268227 126268227 single base substitution G A intron_variant SKCA-BR 5 126268631 126268631 single base substitution G A intron_variant SKCA-BR 5 126268695 126268695 single base substitution G A intron_variant SKCA-BR 5 126270603 126270605 deletion of <=200bp CTG - intron_variant SKCA-BR 5 126275458 126275458 single base substitution C T intron_variant SKCA-BR 5 126277502 126277502 single base substitution G A intron_variant SKCA-BR 5 126278252 126278252 single base substitution T A intron_variant SKCA-BR 5 126281189 126281189 single base substitution G A intron_variant SKCA-BR 5 126282061 126282061 insertion of <=200bp - CA intron_variant SKCA-BR 5 126282061 126282061 insertion of <=200bp - CA splice_region_variant SKCA-BR 5 126284680 126284680 single base substitution T G intron_variant SKCA-BR 5 126286489 126286489 single base substitution C T intron_variant SKCA-BR 5 126287674 126287674 single base substitution G A intron_variant SKCA-BR 5 126289011 126289011 single base substitution G T intron_variant SKCA-BR 5 126289020 126289020 single base substitution A C intron_variant SKCA-BR 5 126289519 126289519 single base substitution A T intron_variant SKCA-BR 5 126292355 126292355 insertion of <=200bp - AC intron_variant SKCA-BR 5 126298524 126298524 insertion of <=200bp - TGTGC intron_variant SKCA-BR 5 126305298 126305298 insertion of <=200bp - GCA intron_variant SKCA-BR 5 126312123 126312123 single base substitution G A intron_variant SKCA-BR 5 126314503 126314503 single base substitution G A intron_variant SKCA-BR 5 126315804 126315804 single base substitution G A intron_variant SKCA-BR 5 126316581 126316581 single base substitution G A intron_variant SKCA-BR 5 126319722 126319722 single base substitution G A intron_variant SKCA-BR 5 126324021 126324021 single base substitution G A intron_variant SKCA-BR 5 126324546 126324546 single base substitution T A intron_variant SKCA-BR 5 126325772 126325773 deletion of <=200bp AT - intron_variant SKCA-BR 5 126325775 126325776 deletion of <=200bp TA - intron_variant SKCA-BR 5 126327708 126327708 single base substitution G A intron_variant SKCA-BR 5 126330086 126330086 single base substitution T G intron_variant SKCA-BR 5 126335253 126335253 single base substitution A C intron_variant SKCA-BR 5 126336085 126336085 single base substitution G A intron_variant SKCA-BR 5 126337182 126337182 single base substitution A C intron_variant SKCA-BR 5 126337676 126337676 single base substitution C T intron_variant SKCA-BR 5 126351067 126351067 single base substitution G C intron_variant SKCA-BR 5 126352635 126352635 single base substitution G A intron_variant SKCA-BR 5 126353694 126353694 single base substitution G A intron_variant SKCA-BR 5 126359425 126359429 deletion of <=200bp AAAAT - intron_variant SKCA-BR 5 126359425 126359437 deletion of <=200bp AAAATAAATAAAT - intron_variant SKCA-BR 5 126361000 126361001 deletion of <=200bp TA - intron_variant SKCA-BR 5 126362047 126362047 single base substitution G A intron_variant SKCA-BR 5 126363910 126363910 single base substitution G A intron_variant SKCA-BR 5 126365979 126365979 single base substitution T C intron_variant SKCA-BR 5 126365979 126365979 single base substitution T C upstream_gene_variant SKCA-BR 5 126370843 126370843 single base substitution G A upstream_gene_variant SKCM-US 5 126206349 126206349 single base substitution C T exon_variant SKCM-US 5 126206349 126206349 single base substitution C T synonymous_variant R246R 738G>A SKCM-US 5 126206432 126206432 single base substitution G A exon_variant SKCM-US 5 126206432 126206432 single base substitution G A stop_gained Q219* 655C>T SKCM-US 5 126213904 126213904 single base substitution G A exon_variant SKCM-US 5 126213904 126213904 single base substitution G A synonymous_variant L192L 576C>T SKCM-US 5 126250785 126250785 single base substitution C T exon_variant SKCM-US 5 126250785 126250785 single base substitution C T missense_variant G77D 230G>A SKCM-US 5 126250785 126250785 single base substitution C T upstream_gene_variant STAD-US 5 126206470 126206470 single base substitution T C exon_variant STAD-US 5 126206470 126206470 single base substitution T C missense_variant Y206C 617A>G STAD-US 5 126250640 126250640 single base substitution T C exon_variant STAD-US 5 126250640 126250640 single base substitution T C synonymous_variant K125K 375A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-GF-A6C9-06 COSM4901636 c.230G>A p.G77D Substitution - Missense 5:126915093-126915093 - TCGA-FD-A3SO-01 COSM3776139 c.399G>A p.L133L Substitution - coding silent 5:126878389-126878389 - LUAD-RT-S01487 COSM377958 c.120T>C p.Y40Y Substitution - coding silent 5:126918052-126918052 - BD177T COSM5517344 c.574C>G p.L192V Substitution - Missense 5:126878214-126878214 - LUAD-CHTN-MAD06-00668 COSM360070 c.304G>C p.E102Q Substitution - Missense 5:126915019-126915019 - OSCC-GB_00770111 COSM4884030 c.238C>A p.Q80K Substitution - Missense 5:126915085-126915085 - HCC169T COSM3661349 c.603+10G>A p.? Unknown 5:126878175-126878175 - BD171T COSM5494749 c.279G>T p.L93F Substitution - Missense 5:126915044-126915044 - 325 COSM97852 c.292C>T p.R98W Substitution - Missense 5:126915031-126915031 - SNU-175 COSM3135604 c.507C>T p.G169G Substitution - coding silent 5:126878281-126878281 - P161 COSM1736017 c.692delT p.V231fs*>23 Deletion - Frameshift 5:126870703-126870703 - HCC92T COSM1619374 c.308A>G p.H103R Substitution - Missense 5:126915015-126915015 - TCGA-A2-A4RW-01 COSM3826640 c.551G>C p.G184A Substitution - Missense 5:126878237-126878237 - HCC92 COSM1619374 c.308A>G p.H103R Substitution - Missense 5:126915015-126915015 - 392 COSM4428286 c.683C>G p.S228C Substitution - Missense 5:126870712-126870712 - LIM2551 COSM4644630 c.11G>A p.S4N Substitution - Missense 5:126918161-126918161 - T3021 COSM4700688 c.293G>A p.R98Q Substitution - Missense 5:126915030-126915030 - PTC-7C COSM4159383 c.190C>A p.P64T Substitution - Missense 5:126915133-126915133 - TCGA-EE-A2M5-06 COSM3608113 c.576C>T p.L192L Substitution - coding silent 5:126878212-126878212 - Pat_41_B COSM5867174 c.28C>T p.P10S Substitution - Missense 5:126918144-126918144 - TCGA-EE-A2MD-06 COSM3608112 c.655C>T p.Q219* Substitution - Nonsense 5:126870740-126870740 - I2L-P19Tb-Tumor-Organoid COSM5356693 c.643C>T p.R215C Substitution - Missense 5:126870752-126870752 - PT23_2 COSM5903545 c.485C>T p.S162L Substitution - Missense 5:126878303-126878303 - TCGA-C5-A7CJ-01 COSM4821337 c.428G>A p.R143Q Substitution - Missense 5:126878360-126878360 - DLD1 COSM4625394 c.581C>T p.T194I Substitution - Missense 5:126878207-126878207 - TCGA-61-1906-01 COSM1328299 c.555G>C p.L185L Substitution - coding silent 5:126878233-126878233 - T75 COSM1177993 c.636C>T p.N212N Substitution - coding silent 5:126870759-126870759 - 325 COSM97852 c.292C>T p.R98W Substitution - Missense 5:126915031-126915031 - HT115 COSM3135599 c.649A>G p.T217A Substitution - Missense 5:126870746-126870746 - CHC307T COSM3669366 c.268A>T p.T90S Substitution - Missense 5:126915055-126915055 - cSCCP8 COSM140521 c.383C>T p.P128L Substitution - Missense 5:126914940-126914940 - SK-OV-3 COSM1671837 c.427C>T p.R143W Substitution - Missense 5:126878361-126878361 - TCGA-EE-A29D-06 COSM3608111 c.738G>A p.R246R Substitution - coding silent 5:126870657-126870657 - STC252 COSM5060595 c.371G>A p.R124H Substitution - Missense 5:126914952-126914952 - T3202 COSM1177993 c.636C>T p.N212N Substitution - coding silent 5:126870759-126870759 - TCGA-AA-3685-01 COSM293199 c.384G>A p.P128P Substitution - coding silent 5:126914939-126914939 - 8030232 COSM3135619 c.114G>A p.P38P Substitution - coding silent 5:126918058-126918058 - 179T COSM1726229 c.550G>A p.G184R Substitution - Missense 5:126878238-126878238 - TCGA-BR-6452-01 COSM3849782 c.375A>G p.K125K Substitution - coding silent 5:126914948-126914948 - CSCC-62-T COSM4553621 c.596G>A p.W199* Substitution - Nonsense 5:126878192-126878192 - 8015299 COSM1671837 c.427C>T p.R143W Substitution - Missense 5:126878361-126878361 - QC2-39-T2 COSM5655515 c.395G>A p.W132* Substitution - Nonsense 5:126878393-126878393 - LS411 COSM4614541 c.66_67insC p.V23fs*45 Insertion - Frameshift 5:126918105-126918106 - BD6T COSM5498912 c.394-6T>C p.? Unknown 5:126878400-126878400 - TCGA-A6-6781-01 COSM97852 c.292C>T p.R98W Substitution - Missense 5:126915031-126915031 - CHC307T COSM3669366 c.268A>T p.T90S Substitution - Missense 5:126915055-126915055 - 2521262 COSM5891857 c.272G>A p.G91E Substitution - Missense 5:126915051-126915051 - BD124T COSM5491920 c.425A>C p.K142T Substitution - Missense 5:126878363-126878363 - SS6003305 COSM3414520 c.13C>T p.R5C Substitution - Missense 5:126918159-126918159 - TCGA-BR-6452-01 COSM3849781 c.617A>G p.Y206C Substitution - Missense 5:126870778-126870778 - Pat_41_A COSM5867173 c.95G>A p.S32N Substitution - Missense 5:126918077-126918077 - STC291 COSM5060596 c.233G>T p.S78I Substitution - Missense 5:126915090-126915090 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.132373;Hs.132376;Hs.132394;Hs.132414;Hs.132416;Hs.132423;Hs.132426;Hs.132431;Hs.132433;Hs.132436;Hs.132438;Hs.132441 5q23.2 613333

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C G Synonymous p.T26T c.78G>C 5 126253786 LUAD C T IntronicSNV . c.1-1403G>A 5 126255266 CLL G A IntronicSNV . c.1-73199C>T 5 126327062 CLL G A Missense p.S107F c.320C>T 5 126250695 LUAD G A Nonsense p.Q219* c.655C>T 5 126206432 CM G A Synonymous p.L192L c.576C>T 5 126213904 CM G C Missense p.P236A c.706C>G 5 126206381 HNSC G T Missense p.R5S c.13C>A 5 126253851 BRCA T C IntronicSNV . c.1-44647A>G 5 126298510 CLL