Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 4 145916557 145916557 + Missense_Mutation SNP T T C TCGA-OR-A5J6-01A-31D-A29I-10 TCGA-OR-A5J6-10A-01D-A29L-10 g.chr4:145916557T>C c.526A>G c.(526-528)Ata>Gta p.I176V BRCA 4 145985831 145985831 + Missense_Mutation SNP C C T TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr4:145985831C>T c.220G>A c.(220-222)Gtg>Atg p.V74M COAD 4 145916572 145916572 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:145916572G>T c.511C>A c.(511-513)Cct>Act p.P171T COAD 4 145916641 145916641 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:145916641C>T c.442G>A c.(442-444)Gga>Aga p.G148R COAD 4 145985784 145985784 + Silent SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr4:145985784A>G c.267T>C c.(265-267)taT>taC p.Y89Y COAD 4 146017246 146017246 + Silent SNP A A C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:146017246A>C c.6T>G c.(4-6)acT>acG p.T2T COADREAD 4 145916572 145916572 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:145916572G>T c.511C>A c.(511-513)Cct>Act p.P171T COADREAD 4 145916641 145916641 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:145916641C>T c.442G>A c.(442-444)Gga>Aga p.G148R COADREAD 4 145985784 145985784 + Silent SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr4:145985784A>G c.267T>C c.(265-267)taT>taC p.Y89Y COADREAD 4 146017246 146017246 + Silent SNP A A C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:146017246A>C c.6T>G c.(4-6)acT>acG p.T2T GBMLGG 4 145916607 145916607 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:145916607T>C c.476A>G c.(475-477)tAc>tGc p.Y159C KIPAN 4 145916549 145916549 + Missense_Mutation SNP G G T TCGA-AT-A5NU-01A-11D-A28G-10 TCGA-AT-A5NU-10A-01D-A28G-10 g.chr4:145916549G>T c.534C>A c.(532-534)ttC>ttA p.F178L KIRP 4 145916549 145916549 + Missense_Mutation SNP G G T TCGA-AT-A5NU-01A-11D-A28G-10 TCGA-AT-A5NU-10A-01D-A28G-10 g.chr4:145916549G>T c.534C>A c.(532-534)ttC>ttA p.F178L LGG 4 145916607 145916607 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:145916607T>C c.476A>G c.(475-477)tAc>tGc p.Y159C LUAD 4 145916629 145916629 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr4:145916629G>C c.454C>G c.(454-456)Cat>Gat p.H152D SKCM 4 145985797 145985797 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr4:145985797G>A c.254C>T c.(253-255)tCt>tTt p.S85F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 4 145906157 145906157 single base substitution T C intron_variant BRCA-EU 4 145883470 145883470 single base substitution G T downstream_gene_variant BRCA-EU 4 145884780 145884780 single base substitution C T downstream_gene_variant BRCA-EU 4 145885376 145885376 single base substitution C A downstream_gene_variant BRCA-EU 4 145886606 145886606 single base substitution C A downstream_gene_variant BRCA-EU 4 145886611 145886611 single base substitution G A downstream_gene_variant BRCA-EU 4 145886734 145886734 single base substitution G C downstream_gene_variant BRCA-EU 4 145886782 145886782 single base substitution T G downstream_gene_variant BRCA-EU 4 145888104 145888104 single base substitution C A downstream_gene_variant BRCA-EU 4 145888260 145888260 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 145888319 145888319 single base substitution T C intron_variant BRCA-EU 4 145888566 145888566 single base substitution C T intron_variant BRCA-EU 4 145888811 145888811 single base substitution T A intron_variant BRCA-EU 4 145889406 145889406 single base substitution G C intron_variant BRCA-EU 4 145889421 145889421 single base substitution C G intron_variant BRCA-EU 4 145890770 145890770 single base substitution G C intron_variant BRCA-EU 4 145891052 145891052 single base substitution G A intron_variant BRCA-EU 4 145891439 145891439 deletion of <=200bp A - intron_variant BRCA-EU 4 145891628 145891628 single base substitution C T intron_variant BRCA-EU 4 145892016 145892016 single base substitution G C intron_variant BRCA-EU 4 145892859 145892859 single base substitution A C intron_variant BRCA-EU 4 145893239 145893239 single base substitution G C intron_variant BRCA-EU 4 145895774 145895774 single base substitution G T intron_variant BRCA-EU 4 145896762 145896762 single base substitution A C intron_variant BRCA-EU 4 145898560 145898560 single base substitution G A intron_variant BRCA-EU 4 145898680 145898680 single base substitution G A intron_variant BRCA-EU 4 145898755 145898755 single base substitution C T intron_variant BRCA-EU 4 145901602 145901602 single base substitution G A intron_variant BRCA-EU 4 145902517 145902517 single base substitution T A intron_variant BRCA-EU 4 145904094 145904094 single base substitution C T intron_variant BRCA-EU 4 145904163 145904163 single base substitution T G intron_variant BRCA-EU 4 145904790 145904790 single base substitution G C intron_variant BRCA-EU 4 145905606 145905606 single base substitution A G intron_variant BRCA-EU 4 145906009 145906009 single base substitution G A intron_variant BRCA-EU 4 145907126 145907126 single base substitution C T intron_variant BRCA-EU 4 145907514 145907514 single base substitution G A intron_variant BRCA-EU 4 145911524 145911524 single base substitution G C downstream_gene_variant BRCA-EU 4 145911524 145911524 single base substitution G C intron_variant BRCA-EU 4 145913709 145913709 single base substitution G C downstream_gene_variant BRCA-EU 4 145913709 145913709 single base substitution G C intron_variant BRCA-EU 4 145916549 145916549 single base substitution G A downstream_gene_variant BRCA-EU 4 145916549 145916549 single base substitution G A exon_variant BRCA-EU 4 145916549 145916549 single base substitution G A intron_variant BRCA-EU 4 145916549 145916549 single base substitution G A synonymous_variant F178F 534C>T BRCA-EU 4 145917214 145917214 single base substitution G C intron_variant BRCA-EU 4 145917543 145917543 single base substitution G A intron_variant BRCA-EU 4 145917997 145917997 single base substitution G A intron_variant BRCA-EU 4 145918439 145918439 single base substitution C G intron_variant BRCA-EU 4 145918656 145918656 single base substitution G T intron_variant BRCA-EU 4 145918981 145918981 single base substitution G C intron_variant BRCA-EU 4 145919800 145919800 single base substitution G A intron_variant BRCA-EU 4 145919924 145919924 single base substitution C A intron_variant BRCA-EU 4 145920384 145920384 single base substitution G T intron_variant BRCA-EU 4 145921385 145921385 single base substitution G A intron_variant BRCA-EU 4 145921547 145921547 single base substitution G C intron_variant BRCA-EU 4 145923777 145923777 single base substitution G A intron_variant BRCA-EU 4 145925172 145925172 deletion of <=200bp T - intron_variant BRCA-EU 4 145925259 145925259 single base substitution G C intron_variant BRCA-EU 4 145925632 145925632 single base substitution G C intron_variant BRCA-EU 4 145925737 145925737 single base substitution A G intron_variant BRCA-EU 4 145926946 145926946 single base substitution C A intron_variant BRCA-EU 4 145926947 145926947 single base substitution T A intron_variant BRCA-EU 4 145927064 145927064 single base substitution G A intron_variant BRCA-EU 4 145928851 145928851 single base substitution G C intron_variant BRCA-EU 4 145931958 145931958 single base substitution T C intron_variant BRCA-EU 4 145933593 145933593 single base substitution A C intron_variant BRCA-EU 4 145935159 145935159 single base substitution G C intron_variant BRCA-EU 4 145935494 145935494 single base substitution G A intron_variant BRCA-EU 4 145936966 145936966 single base substitution G C intron_variant BRCA-EU 4 145937318 145937318 single base substitution G C intron_variant BRCA-EU 4 145939620 145939620 single base substitution T C intron_variant BRCA-EU 4 145939964 145939964 insertion of <=200bp - A intron_variant BRCA-EU 4 145941818 145941818 single base substitution G A intron_variant BRCA-EU 4 145941920 145941920 single base substitution G A intron_variant BRCA-EU 4 145942281 145942281 single base substitution C T intron_variant BRCA-EU 4 145942891 145942891 single base substitution C G intron_variant BRCA-EU 4 145943036 145943036 single base substitution G C intron_variant BRCA-EU 4 145944743 145944743 single base substitution C T intron_variant BRCA-EU 4 145950012 145950012 single base substitution G T downstream_gene_variant BRCA-EU 4 145950012 145950012 single base substitution G T intron_variant BRCA-EU 4 145954490 145954490 single base substitution G C exon_variant BRCA-EU 4 145954490 145954490 single base substitution G C intron_variant BRCA-EU 4 145954973 145954973 single base substitution G A intron_variant BRCA-EU 4 145959594 145959594 single base substitution G T intron_variant BRCA-EU 4 145962910 145962910 single base substitution A C intron_variant BRCA-EU 4 145963112 145963112 single base substitution C T intron_variant BRCA-EU 4 145963963 145963963 deletion of <=200bp T - intron_variant BRCA-EU 4 145967200 145967200 single base substitution C A intron_variant BRCA-EU 4 145968695 145968695 single base substitution G C intron_variant BRCA-EU 4 145970497 145970497 single base substitution C T downstream_gene_variant BRCA-EU 4 145970497 145970497 single base substitution C T intron_variant BRCA-EU 4 145973597 145973597 single base substitution G C downstream_gene_variant BRCA-EU 4 145973597 145973597 single base substitution G C intron_variant BRCA-EU 4 145973598 145973598 single base substitution A T downstream_gene_variant BRCA-EU 4 145973598 145973598 single base substitution A T intron_variant BRCA-EU 4 145973993 145973993 single base substitution T C downstream_gene_variant BRCA-EU 4 145973993 145973993 single base substitution T C intron_variant BRCA-EU 4 145975349 145975349 single base substitution G A intron_variant BRCA-EU 4 145976268 145976268 single base substitution G C intron_variant BRCA-EU 4 145976418 145976418 deletion of <=200bp A - intron_variant BRCA-EU 4 145977035 145977035 deletion of <=200bp A - intron_variant BRCA-EU 4 145978549 145978549 single base substitution G C intron_variant BRCA-EU 4 145978818 145978818 single base substitution G C intron_variant BRCA-EU 4 145980846 145980846 single base substitution A T downstream_gene_variant BRCA-EU 4 145980846 145980846 single base substitution A T intron_variant BRCA-EU 4 145981014 145981014 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 145981014 145981014 deletion of <=200bp T - intron_variant BRCA-EU 4 145981014 145981014 single base substitution T A downstream_gene_variant BRCA-EU 4 145981014 145981014 single base substitution T A intron_variant BRCA-EU 4 145983603 145983603 single base substitution G C downstream_gene_variant BRCA-EU 4 145983603 145983603 single base substitution G C intron_variant BRCA-EU 4 145984289 145984289 single base substitution G T downstream_gene_variant BRCA-EU 4 145984289 145984289 single base substitution G T intron_variant BRCA-EU 4 145985121 145985121 single base substitution G A downstream_gene_variant BRCA-EU 4 145985121 145985121 single base substitution G A intron_variant BRCA-EU 4 145985516 145985516 single base substitution G A downstream_gene_variant BRCA-EU 4 145985516 145985516 single base substitution G A intron_variant BRCA-EU 4 145988236 145988236 single base substitution A T intron_variant BRCA-EU 4 145990485 145990485 single base substitution G A intron_variant BRCA-EU 4 145990912 145990912 single base substitution T G intron_variant BRCA-EU 4 145992540 145992540 single base substitution G A intron_variant BRCA-EU 4 145993560 145993560 single base substitution T A intron_variant BRCA-EU 4 145994391 145994391 single base substitution C G intron_variant BRCA-EU 4 145997897 145997897 single base substitution G T downstream_gene_variant BRCA-EU 4 145997897 145997897 single base substitution G T intron_variant BRCA-EU 4 145999188 145999188 single base substitution G T downstream_gene_variant BRCA-EU 4 145999188 145999188 single base substitution G T intron_variant BRCA-EU 4 146002845 146002845 single base substitution C T exon_variant BRCA-EU 4 146002845 146002845 single base substitution C T missense_variant G58D 173G>A BRCA-EU 4 146003025 146003025 deletion of <=200bp T - intron_variant BRCA-EU 4 146003312 146003312 deletion of <=200bp T - intron_variant BRCA-EU 4 146003671 146003671 single base substitution G C intron_variant BRCA-EU 4 146004525 146004525 single base substitution A G intron_variant BRCA-EU 4 146004994 146004994 single base substitution C G intron_variant BRCA-EU 4 146005322 146005322 single base substitution G A intron_variant BRCA-EU 4 146006398 146006398 single base substitution G A intron_variant BRCA-EU 4 146007076 146007076 single base substitution C T intron_variant BRCA-EU 4 146008970 146008970 single base substitution G C intron_variant BRCA-EU 4 146009189 146009189 single base substitution G A intron_variant BRCA-EU 4 146010461 146010461 deletion of <=200bp A - intron_variant BRCA-EU 4 146010969 146010969 single base substitution G A intron_variant BRCA-EU 4 146012101 146012101 single base substitution T C intron_variant BRCA-EU 4 146013933 146013933 single base substitution G C intron_variant BRCA-EU 4 146014960 146014960 deletion of <=200bp A - intron_variant BRCA-EU 4 146016995 146016995 single base substitution T C intron_variant BRCA-EU 4 146017279 146017279 single base substitution G C intron_variant BRCA-EU 4 146017384 146017384 single base substitution G A intron_variant BRCA-EU 4 146017396 146017396 single base substitution T C intron_variant BRCA-EU 4 146018123 146018123 single base substitution G T intron_variant BRCA-EU 4 146018915 146018915 deletion of <=200bp A - exon_variant BRCA-EU 4 146018915 146018915 deletion of <=200bp A - intron_variant BRCA-EU 4 146018915 146018915 deletion of <=200bp A - splice_region_variant BRCA-EU 4 146018915 146018915 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 146019345 146019345 single base substitution G T 5_prime_UTR_variant BRCA-EU 4 146019345 146019345 single base substitution G T exon_variant BRCA-EU 4 146019345 146019345 single base substitution G T intron_variant BRCA-EU 4 146019345 146019345 single base substitution G T upstream_gene_variant BRCA-EU 4 146020481 146020481 single base substitution C T upstream_gene_variant BRCA-EU 4 146021414 146021414 single base substitution G A upstream_gene_variant BRCA-EU 4 146021530 146021530 single base substitution T C upstream_gene_variant BRCA-EU 4 146022687 146022687 single base substitution G C upstream_gene_variant BRCA-EU 4 146024378 146024378 single base substitution A G upstream_gene_variant BRCA-FR 4 145886606 145886606 single base substitution C A downstream_gene_variant BRCA-FR 4 145889406 145889406 single base substitution G C intron_variant BRCA-FR 4 145890778 145890778 single base substitution C A intron_variant BRCA-FR 4 145907126 145907126 single base substitution C T intron_variant BRCA-FR 4 145913709 145913709 single base substitution G C downstream_gene_variant BRCA-FR 4 145913709 145913709 single base substitution G C intron_variant BRCA-FR 4 145917214 145917214 single base substitution G C intron_variant BRCA-FR 4 145921385 145921385 single base substitution G A intron_variant BRCA-FR 4 145937318 145937318 single base substitution G C intron_variant BRCA-FR 4 145943517 145943517 single base substitution C T intron_variant BRCA-FR 4 145978818 145978818 single base substitution G C intron_variant BRCA-FR 4 145983166 145983166 single base substitution G T downstream_gene_variant BRCA-FR 4 145983166 145983166 single base substitution G T intron_variant BRCA-FR 4 145985121 145985121 single base substitution G A downstream_gene_variant BRCA-FR 4 145985121 145985121 single base substitution G A intron_variant BRCA-FR 4 146001064 146001064 single base substitution G A downstream_gene_variant BRCA-FR 4 146001064 146001064 single base substitution G A intron_variant BRCA-FR 4 146008970 146008970 single base substitution G C intron_variant BRCA-FR 4 146020481 146020481 single base substitution C T upstream_gene_variant BRCA-FR 4 146022687 146022687 single base substitution G C upstream_gene_variant BRCA-UK 4 145954973 145954973 single base substitution G A intron_variant BRCA-UK 4 145993171 145993171 single base substitution C A intron_variant BRCA-UK 4 146013933 146013933 single base substitution G C intron_variant BRCA-UK 4 146017396 146017396 single base substitution T C intron_variant BRCA-US 4 145985831 145985831 single base substitution C T exon_variant BRCA-US 4 145985831 145985831 single base substitution C T intron_variant BRCA-US 4 145985831 145985831 single base substitution C T missense_variant V74M 220G>A CLLE-ES 4 145889815 145889815 single base substitution A G intron_variant CLLE-ES 4 145896731 145896731 single base substitution T A intron_variant CLLE-ES 4 145909384 145909384 single base substitution G A intron_variant CLLE-ES 4 145915593 145915593 single base substitution C T downstream_gene_variant CLLE-ES 4 145915593 145915593 single base substitution C T intron_variant CLLE-ES 4 145920548 145920551 deletion of <=200bp ACAA - intron_variant CLLE-ES 4 145967933 145967933 single base substitution A G intron_variant CLLE-ES 4 146000236 146000236 single base substitution G A downstream_gene_variant CLLE-ES 4 146000236 146000236 single base substitution G A intron_variant CLLE-ES 4 146014640 146014640 single base substitution G A intron_variant COAD-US 4 145985784 145985784 single base substitution A G exon_variant COAD-US 4 145985784 145985784 single base substitution A G intron_variant COAD-US 4 145985784 145985784 single base substitution A G synonymous_variant Y89Y 267T>C COCA-CN 4 145901814 145901814 single base substitution T C intron_variant COCA-CN 4 145916686 145916686 single base substitution G A exon_variant COCA-CN 4 145916686 145916686 single base substitution G A intron_variant COCA-CN 4 145916686 145916686 single base substitution G A missense_variant R133C 397C>T COCA-CN 4 145916701 145916701 single base substitution G A exon_variant COCA-CN 4 145916701 145916701 single base substitution G A intron_variant COCA-CN 4 145916701 145916701 single base substitution G A missense_variant H128Y 382C>T COCA-CN 4 145975103 145975103 single base substitution C T intron_variant COCA-CN 4 146017112 146017112 single base substitution A G intron_variant COCA-CN 4 146017322 146017322 single base substitution G T intron_variant COCA-CN 4 146017363 146017363 single base substitution A G intron_variant EOPC-DE 4 145905148 145905148 single base substitution G A intron_variant EOPC-DE 4 145910379 145910379 single base substitution T C intron_variant EOPC-DE 4 145949507 145949507 single base substitution T C downstream_gene_variant EOPC-DE 4 145949507 145949507 single base substitution T C intron_variant EOPC-DE 4 145950823 145950823 single base substitution G A downstream_gene_variant EOPC-DE 4 145950823 145950823 single base substitution G A intron_variant EOPC-DE 4 145959561 145959561 single base substitution A T intron_variant ESAD-UK 4 145883336 145883336 single base substitution G C downstream_gene_variant ESAD-UK 4 145883954 145883954 single base substitution T G downstream_gene_variant ESAD-UK 4 145884277 145884277 single base substitution T C downstream_gene_variant ESAD-UK 4 145884278 145884278 single base substitution A C downstream_gene_variant ESAD-UK 4 145884324 145884324 single base substitution T G downstream_gene_variant ESAD-UK 4 145885074 145885074 single base substitution T C downstream_gene_variant ESAD-UK 4 145888590 145888590 single base substitution C A intron_variant ESAD-UK 4 145890691 145890691 single base substitution T G intron_variant ESAD-UK 4 145891107 145891107 single base substitution C A intron_variant ESAD-UK 4 145894099 145894099 single base substitution T G intron_variant ESAD-UK 4 145898015 145898015 single base substitution T G intron_variant ESAD-UK 4 145898156 145898156 single base substitution T G intron_variant ESAD-UK 4 145898230 145898230 single base substitution T C intron_variant ESAD-UK 4 145899751 145899751 single base substitution T C intron_variant ESAD-UK 4 145900126 145900126 single base substitution A C intron_variant ESAD-UK 4 145901613 145901613 insertion of <=200bp - T intron_variant ESAD-UK 4 145902192 145902192 single base substitution G C intron_variant ESAD-UK 4 145903748 145903748 single base substitution T A intron_variant ESAD-UK 4 145903783 145903783 single base substitution C T intron_variant ESAD-UK 4 145904546 145904546 single base substitution G A intron_variant ESAD-UK 4 145906791 145906791 single base substitution T C intron_variant ESAD-UK 4 145907106 145907106 single base substitution T A intron_variant ESAD-UK 4 145907507 145907507 single base substitution C A intron_variant ESAD-UK 4 145907772 145907772 single base substitution A C intron_variant ESAD-UK 4 145909701 145909701 single base substitution C A intron_variant ESAD-UK 4 145910286 145910286 single base substitution A T intron_variant ESAD-UK 4 145911205 145911205 single base substitution A G downstream_gene_variant ESAD-UK 4 145911205 145911205 single base substitution A G intron_variant ESAD-UK 4 145911631 145911631 single base substitution C A downstream_gene_variant ESAD-UK 4 145911631 145911631 single base substitution C A intron_variant ESAD-UK 4 145911806 145911806 single base substitution C T downstream_gene_variant ESAD-UK 4 145911806 145911806 single base substitution C T intron_variant ESAD-UK 4 145912648 145912648 single base substitution G A downstream_gene_variant ESAD-UK 4 145912648 145912648 single base substitution G A intron_variant ESAD-UK 4 145914463 145914463 single base substitution A C downstream_gene_variant ESAD-UK 4 145914463 145914463 single base substitution A C intron_variant ESAD-UK 4 145917354 145917354 single base substitution C T intron_variant ESAD-UK 4 145917408 145917408 single base substitution C T intron_variant ESAD-UK 4 145918566 145918566 single base substitution G C intron_variant ESAD-UK 4 145918576 145918576 single base substitution G A intron_variant ESAD-UK 4 145919060 145919060 deletion of <=200bp A - intron_variant ESAD-UK 4 145920045 145920045 single base substitution G T intron_variant ESAD-UK 4 145921626 145921626 single base substitution A C intron_variant ESAD-UK 4 145921943 145921943 single base substitution A C intron_variant ESAD-UK 4 145922198 145922198 single base substitution C A intron_variant ESAD-UK 4 145922918 145922918 single base substitution G A intron_variant ESAD-UK 4 145923714 145923714 single base substitution A T intron_variant ESAD-UK 4 145924266 145924266 single base substitution T C intron_variant ESAD-UK 4 145924401 145924401 single base substitution A C intron_variant ESAD-UK 4 145924991 145924991 single base substitution G C intron_variant ESAD-UK 4 145925839 145925839 single base substitution G T intron_variant ESAD-UK 4 145927224 145927224 single base substitution T C intron_variant ESAD-UK 4 145929839 145929839 single base substitution C T intron_variant ESAD-UK 4 145933326 145933326 single base substitution G A intron_variant ESAD-UK 4 145934136 145934136 single base substitution A C intron_variant ESAD-UK 4 145936589 145936589 single base substitution A T intron_variant ESAD-UK 4 145936683 145936683 single base substitution G A intron_variant ESAD-UK 4 145938713 145938713 single base substitution G A intron_variant ESAD-UK 4 145939329 145939329 single base substitution C G intron_variant ESAD-UK 4 145939884 145939884 single base substitution T G intron_variant ESAD-UK 4 145943980 145943980 deletion of <=200bp T - intron_variant ESAD-UK 4 145944000 145944000 single base substitution G A intron_variant ESAD-UK 4 145944379 145944379 single base substitution C A intron_variant ESAD-UK 4 145945649 145945649 single base substitution C A intron_variant ESAD-UK 4 145945861 145945861 single base substitution G A intron_variant ESAD-UK 4 145946246 145946246 single base substitution C T intron_variant ESAD-UK 4 145947545 145947545 single base substitution G T intron_variant ESAD-UK 4 145949778 145949778 single base substitution G A downstream_gene_variant ESAD-UK 4 145949778 145949778 single base substitution G A intron_variant ESAD-UK 4 145950208 145950208 single base substitution T C downstream_gene_variant ESAD-UK 4 145950208 145950208 single base substitution T C intron_variant ESAD-UK 4 145953523 145953523 single base substitution G A downstream_gene_variant ESAD-UK 4 145953523 145953523 single base substitution G A intron_variant ESAD-UK 4 145959537 145959537 single base substitution C T intron_variant ESAD-UK 4 145963563 145963563 single base substitution C A intron_variant ESAD-UK 4 145964338 145964338 insertion of <=200bp - A intron_variant ESAD-UK 4 145964971 145964971 single base substitution A G intron_variant ESAD-UK 4 145966281 145966281 single base substitution T G intron_variant ESAD-UK 4 145966595 145966595 deletion of <=200bp A - intron_variant ESAD-UK 4 145970716 145970716 single base substitution C T downstream_gene_variant ESAD-UK 4 145970716 145970716 single base substitution C T intron_variant ESAD-UK 4 145971698 145971698 single base substitution T C downstream_gene_variant ESAD-UK 4 145971698 145971698 single base substitution T C intron_variant ESAD-UK 4 145972107 145972107 single base substitution A T downstream_gene_variant ESAD-UK 4 145972107 145972107 single base substitution A T intron_variant ESAD-UK 4 145973345 145973345 single base substitution A T downstream_gene_variant ESAD-UK 4 145973345 145973345 single base substitution A T intron_variant ESAD-UK 4 145975531 145975531 single base substitution G A intron_variant ESAD-UK 4 145979358 145979358 single base substitution C G intron_variant ESAD-UK 4 145979907 145979907 single base substitution C G intron_variant ESAD-UK 4 145980068 145980068 single base substitution G A intron_variant ESAD-UK 4 145981519 145981519 single base substitution G A downstream_gene_variant ESAD-UK 4 145981519 145981519 single base substitution G A intron_variant ESAD-UK 4 145983414 145983414 single base substitution C T downstream_gene_variant ESAD-UK 4 145983414 145983414 single base substitution C T intron_variant ESAD-UK 4 145984505 145984505 single base substitution C T downstream_gene_variant ESAD-UK 4 145984505 145984505 single base substitution C T intron_variant ESAD-UK 4 145986704 145986704 single base substitution T C intron_variant ESAD-UK 4 145986722 145986722 deletion of <=200bp A - intron_variant ESAD-UK 4 145987861 145987861 single base substitution A G intron_variant ESAD-UK 4 145988020 145988020 single base substitution G A intron_variant ESAD-UK 4 145988473 145988473 single base substitution C T intron_variant ESAD-UK 4 145989498 145989498 single base substitution G A intron_variant ESAD-UK 4 145990357 145990357 single base substitution C A intron_variant ESAD-UK 4 145993171 145993171 single base substitution C A intron_variant ESAD-UK 4 145993172 145993172 single base substitution A C intron_variant ESAD-UK 4 145994964 145994964 single base substitution T C intron_variant ESAD-UK 4 145998168 145998168 single base substitution G A downstream_gene_variant ESAD-UK 4 145998168 145998168 single base substitution G A intron_variant ESAD-UK 4 146000272 146000272 single base substitution T C downstream_gene_variant ESAD-UK 4 146000272 146000272 single base substitution T C intron_variant ESAD-UK 4 146000426 146000426 single base substitution G A downstream_gene_variant ESAD-UK 4 146000426 146000426 single base substitution G A intron_variant ESAD-UK 4 146001374 146001374 single base substitution G A downstream_gene_variant ESAD-UK 4 146001374 146001374 single base substitution G A intron_variant ESAD-UK 4 146002330 146002330 single base substitution C T downstream_gene_variant ESAD-UK 4 146002330 146002330 single base substitution C T intron_variant ESAD-UK 4 146003593 146003593 single base substitution G A intron_variant ESAD-UK 4 146005140 146005140 single base substitution T G intron_variant ESAD-UK 4 146006342 146006342 single base substitution G A intron_variant ESAD-UK 4 146008924 146008924 single base substitution C T intron_variant ESAD-UK 4 146008970 146008970 single base substitution G A intron_variant ESAD-UK 4 146014804 146014804 single base substitution A G intron_variant ESAD-UK 4 146016696 146016696 single base substitution C A intron_variant ESAD-UK 4 146021471 146021471 single base substitution G A upstream_gene_variant ESAD-UK 4 146023487 146023487 single base substitution A C upstream_gene_variant KIRP-US 4 145916549 145916549 single base substitution G T downstream_gene_variant KIRP-US 4 145916549 145916549 single base substitution G T exon_variant KIRP-US 4 145916549 145916549 single base substitution G T intron_variant KIRP-US 4 145916549 145916549 single base substitution G T missense_variant F178L 534C>A LAML-KR 4 145975788 145975788 single base substitution T C intron_variant LAML-KR 4 145975790 145975790 single base substitution T C intron_variant LICA-FR 4 145886487 145886487 single base substitution C T downstream_gene_variant LICA-FR 4 145897836 145897836 single base substitution A G intron_variant LICA-FR 4 145916983 145916983 single base substitution T G intron_variant LICA-FR 4 145930345 145930345 single base substitution A C intron_variant LICA-FR 4 145932306 145932306 single base substitution G A intron_variant LICA-FR 4 145933349 145933349 single base substitution C T intron_variant LICA-FR 4 145945056 145945056 single base substitution T C intron_variant LICA-FR 4 145946485 145946485 insertion of <=200bp - C intron_variant LICA-FR 4 145951648 145951648 single base substitution A G downstream_gene_variant LICA-FR 4 145951648 145951648 single base substitution A G intron_variant LICA-FR 4 145953476 145953476 single base substitution T C downstream_gene_variant LICA-FR 4 145953476 145953476 single base substitution T C intron_variant LICA-FR 4 145973595 145973595 single base substitution C T downstream_gene_variant LICA-FR 4 145973595 145973595 single base substitution C T intron_variant LICA-FR 4 145975709 145975709 insertion of <=200bp - A intron_variant LICA-FR 4 145975854 145975854 single base substitution G T intron_variant LICA-FR 4 145982564 145982564 single base substitution T C downstream_gene_variant LICA-FR 4 145982564 145982564 single base substitution T C intron_variant LICA-FR 4 145985731 145985731 single base substitution T A exon_variant LICA-FR 4 145985731 145985731 single base substitution T A intron_variant LICA-FR 4 145985731 145985731 single base substitution T A missense_variant E107V 320A>T LICA-FR 4 146008598 146008598 single base substitution T C intron_variant LICA-FR 4 146008874 146008874 single base substitution A G intron_variant LINC-JP 4 145905956 145905956 single base substitution T C intron_variant LINC-JP 4 145906930 145906930 single base substitution G T intron_variant LINC-JP 4 145907393 145907393 single base substitution T A intron_variant LINC-JP 4 145911859 145911859 single base substitution G T downstream_gene_variant LINC-JP 4 145911859 145911859 single base substitution G T intron_variant LINC-JP 4 145915051 145915051 single base substitution A C downstream_gene_variant LINC-JP 4 145915051 145915051 single base substitution A C intron_variant LINC-JP 4 145920959 145920959 single base substitution A G intron_variant LINC-JP 4 145926157 145926157 single base substitution T C intron_variant LINC-JP 4 145928834 145928834 single base substitution G A intron_variant LINC-JP 4 145932223 145932223 single base substitution T C intron_variant LINC-JP 4 145940976 145940976 single base substitution T G intron_variant LINC-JP 4 145995659 145995659 single base substitution G A intron_variant LINC-JP 4 146002820 146002820 single base substitution G A exon_variant LINC-JP 4 146002820 146002820 single base substitution G A synonymous_variant I66I 198C>T LINC-JP 4 146002871 146002871 single base substitution A G exon_variant LINC-JP 4 146002871 146002871 single base substitution A G synonymous_variant N49N 147T>C LIRI-JP 4 145886345 145886345 single base substitution C G downstream_gene_variant LIRI-JP 4 145886373 145886373 single base substitution T A downstream_gene_variant LIRI-JP 4 145886435 145886435 single base substitution G A downstream_gene_variant LIRI-JP 4 145887191 145887191 single base substitution G C downstream_gene_variant LIRI-JP 4 145889734 145889734 single base substitution T G intron_variant LIRI-JP 4 145891720 145891720 single base substitution G A intron_variant LIRI-JP 4 145892036 145892036 single base substitution A G intron_variant LIRI-JP 4 145892170 145892170 single base substitution C T intron_variant LIRI-JP 4 145892693 145892693 single base substitution T C intron_variant LIRI-JP 4 145892789 145892789 single base substitution A C intron_variant LIRI-JP 4 145895217 145895217 single base substitution C A intron_variant LIRI-JP 4 145898958 145898958 single base substitution C A intron_variant LIRI-JP 4 145905270 145905270 single base substitution T C intron_variant LIRI-JP 4 145905324 145905324 single base substitution A G intron_variant LIRI-JP 4 145906255 145906255 single base substitution T A intron_variant LIRI-JP 4 145907641 145907641 single base substitution T C intron_variant LIRI-JP 4 145907642 145907642 single base substitution C T intron_variant LIRI-JP 4 145908090 145908090 single base substitution A T intron_variant LIRI-JP 4 145908091 145908091 single base substitution C G intron_variant LIRI-JP 4 145908219 145908219 single base substitution C A intron_variant LIRI-JP 4 145909173 145909173 single base substitution C A intron_variant LIRI-JP 4 145911122 145911122 single base substitution T C downstream_gene_variant LIRI-JP 4 145911122 145911122 single base substitution T C intron_variant LIRI-JP 4 145913395 145913395 single base substitution T C downstream_gene_variant LIRI-JP 4 145913395 145913395 single base substitution T C intron_variant LIRI-JP 4 145914954 145914954 single base substitution T C downstream_gene_variant LIRI-JP 4 145914954 145914954 single base substitution T C intron_variant LIRI-JP 4 145915565 145915565 single base substitution T C downstream_gene_variant LIRI-JP 4 145915565 145915565 single base substitution T C intron_variant LIRI-JP 4 145917629 145917629 single base substitution C A intron_variant LIRI-JP 4 145918302 145918302 single base substitution G C intron_variant LIRI-JP 4 145921646 145921646 single base substitution T C intron_variant LIRI-JP 4 145921820 145921820 single base substitution T C intron_variant LIRI-JP 4 145923836 145923836 single base substitution T C intron_variant LIRI-JP 4 145924739 145924739 single base substitution T C intron_variant LIRI-JP 4 145926382 145926382 single base substitution T C intron_variant LIRI-JP 4 145927183 145927183 single base substitution T C intron_variant LIRI-JP 4 145927301 145927301 single base substitution T C intron_variant LIRI-JP 4 145927365 145927365 single base substitution T C intron_variant LIRI-JP 4 145927470 145927470 single base substitution G T intron_variant LIRI-JP 4 145928279 145928279 single base substitution C A intron_variant LIRI-JP 4 145928528 145928528 single base substitution C T intron_variant LIRI-JP 4 145929319 145929319 single base substitution C A intron_variant LIRI-JP 4 145929557 145929557 single base substitution A C intron_variant LIRI-JP 4 145929612 145929612 single base substitution C G intron_variant LIRI-JP 4 145930553 145930553 single base substitution C T intron_variant LIRI-JP 4 145931150 145931150 single base substitution A T intron_variant LIRI-JP 4 145934884 145934884 single base substitution G A intron_variant LIRI-JP 4 145935457 145935457 single base substitution T C intron_variant LIRI-JP 4 145935925 145935925 single base substitution C G intron_variant LIRI-JP 4 145937443 145937443 single base substitution T C intron_variant LIRI-JP 4 145940553 145940553 single base substitution G A intron_variant LIRI-JP 4 145942085 145942085 single base substitution T C intron_variant LIRI-JP 4 145942403 145942403 single base substitution C G intron_variant LIRI-JP 4 145943858 145943858 single base substitution T G intron_variant LIRI-JP 4 145944747 145944747 single base substitution T A intron_variant LIRI-JP 4 145945427 145945427 single base substitution C G intron_variant LIRI-JP 4 145946335 145946335 single base substitution A G intron_variant LIRI-JP 4 145947261 145947261 single base substitution G A intron_variant LIRI-JP 4 145947365 145947365 single base substitution T C intron_variant LIRI-JP 4 145949173 145949173 single base substitution T A intron_variant LIRI-JP 4 145950757 145950757 single base substitution G T downstream_gene_variant LIRI-JP 4 145950757 145950757 single base substitution G T intron_variant LIRI-JP 4 145953559 145953559 single base substitution T C downstream_gene_variant LIRI-JP 4 145953559 145953559 single base substitution T C intron_variant LIRI-JP 4 145955437 145955437 single base substitution G A intron_variant LIRI-JP 4 145956549 145956549 single base substitution G A intron_variant LIRI-JP 4 145958201 145958201 single base substitution C T intron_variant LIRI-JP 4 145958364 145958364 single base substitution T C intron_variant LIRI-JP 4 145965396 145965396 single base substitution A C intron_variant LIRI-JP 4 145968560 145968594 deletion of <=200bp GGAATATCAGCAAGTTTCAAATGACTATAACTTCA - intron_variant LIRI-JP 4 145969027 145969027 single base substitution G T intron_variant LIRI-JP 4 145970638 145970638 single base substitution A G downstream_gene_variant LIRI-JP 4 145970638 145970638 single base substitution A G intron_variant LIRI-JP 4 145970853 145970853 single base substitution T G downstream_gene_variant LIRI-JP 4 145970853 145970853 single base substitution T G intron_variant LIRI-JP 4 145971233 145971233 single base substitution T A downstream_gene_variant LIRI-JP 4 145971233 145971233 single base substitution T A intron_variant LIRI-JP 4 145973371 145973371 single base substitution T C downstream_gene_variant LIRI-JP 4 145973371 145973371 single base substitution T C intron_variant LIRI-JP 4 145973748 145973748 deletion of <=200bp C - downstream_gene_variant LIRI-JP 4 145973748 145973748 deletion of <=200bp C - intron_variant LIRI-JP 4 145977388 145977388 single base substitution C T intron_variant LIRI-JP 4 145977683 145977683 single base substitution G A intron_variant LIRI-JP 4 145979245 145979245 single base substitution T C intron_variant LIRI-JP 4 145980401 145980401 single base substitution T C downstream_gene_variant LIRI-JP 4 145980401 145980401 single base substitution T C intron_variant LIRI-JP 4 145982113 145982113 single base substitution T C downstream_gene_variant LIRI-JP 4 145982113 145982113 single base substitution T C intron_variant LIRI-JP 4 145984700 145984700 single base substitution T A downstream_gene_variant LIRI-JP 4 145984700 145984700 single base substitution T A intron_variant LIRI-JP 4 145988147 145988147 single base substitution G C intron_variant LIRI-JP 4 145990887 145990887 single base substitution T A intron_variant LIRI-JP 4 145990963 145990963 single base substitution A G intron_variant LIRI-JP 4 145991958 145991958 single base substitution T C intron_variant LIRI-JP 4 145992907 145992907 single base substitution T C intron_variant LIRI-JP 4 145993081 145993081 single base substitution T C intron_variant LIRI-JP 4 145993445 145993445 single base substitution T C intron_variant LIRI-JP 4 145994223 145994223 single base substitution T A intron_variant LIRI-JP 4 145995777 145995777 insertion of <=200bp - A intron_variant LIRI-JP 4 145995990 145995990 single base substitution T C intron_variant LIRI-JP 4 146000625 146000625 single base substitution T C downstream_gene_variant LIRI-JP 4 146000625 146000625 single base substitution T C intron_variant LIRI-JP 4 146004746 146004746 single base substitution T C intron_variant LIRI-JP 4 146005109 146005109 single base substitution T C intron_variant LIRI-JP 4 146005310 146005316 deletion of <=200bp TGTCTGT - intron_variant LIRI-JP 4 146006595 146006595 single base substitution T C intron_variant LIRI-JP 4 146007795 146007795 single base substitution A G intron_variant LIRI-JP 4 146008035 146008035 single base substitution T A intron_variant LIRI-JP 4 146008314 146008314 single base substitution A T intron_variant LIRI-JP 4 146010425 146010425 single base substitution T C intron_variant LIRI-JP 4 146012055 146012055 single base substitution G T intron_variant LIRI-JP 4 146013159 146013159 single base substitution A C intron_variant LIRI-JP 4 146013270 146013270 single base substitution C A intron_variant LIRI-JP 4 146013686 146013686 single base substitution A G intron_variant LIRI-JP 4 146014926 146014926 single base substitution A C intron_variant LIRI-JP 4 146016297 146016297 single base substitution G A intron_variant LIRI-JP 4 146016680 146016680 single base substitution G A intron_variant LIRI-JP 4 146017262 146017262 single base substitution T C intron_variant LIRI-JP 4 146017262 146017262 single base substitution T C splice_region_variant LIRI-JP 4 146021218 146021218 single base substitution T G upstream_gene_variant LIRI-JP 4 146023951 146023951 single base substitution A G upstream_gene_variant LUSC-KR 4 145884257 145884257 single base substitution A C downstream_gene_variant LUSC-KR 4 145885274 145885274 single base substitution T G downstream_gene_variant LUSC-KR 4 145888073 145888073 single base substitution T C downstream_gene_variant LUSC-KR 4 145889226 145889226 single base substitution G A intron_variant LUSC-KR 4 145890657 145890657 single base substitution C A intron_variant LUSC-KR 4 145895594 145895594 single base substitution G T intron_variant LUSC-KR 4 145895827 145895827 single base substitution A G intron_variant LUSC-KR 4 145898189 145898189 single base substitution G A intron_variant LUSC-KR 4 145903098 145903098 single base substitution C A intron_variant LUSC-KR 4 145904428 145904428 single base substitution C T intron_variant LUSC-KR 4 145905071 145905071 single base substitution T A intron_variant LUSC-KR 4 145905250 145905250 single base substitution C T intron_variant LUSC-KR 4 145906089 145906089 single base substitution C A intron_variant LUSC-KR 4 145912198 145912198 single base substitution C A downstream_gene_variant LUSC-KR 4 145912198 145912198 single base substitution C A intron_variant LUSC-KR 4 145916147 145916147 single base substitution T C downstream_gene_variant LUSC-KR 4 145916147 145916147 single base substitution T C exon_variant LUSC-KR 4 145916147 145916147 single base substitution T C intron_variant LUSC-KR 4 145916235 145916235 single base substitution C T 3_prime_UTR_variant LUSC-KR 4 145916235 145916235 single base substitution C T downstream_gene_variant LUSC-KR 4 145916235 145916235 single base substitution C T exon_variant LUSC-KR 4 145916235 145916235 single base substitution C T intron_variant LUSC-KR 4 145917888 145917888 single base substitution T A intron_variant LUSC-KR 4 145919243 145919243 single base substitution G T intron_variant LUSC-KR 4 145931834 145931834 single base substitution G A intron_variant LUSC-KR 4 145932273 145932273 single base substitution C T intron_variant LUSC-KR 4 145935856 145935856 single base substitution C A intron_variant LUSC-KR 4 145949635 145949635 single base substitution T C downstream_gene_variant LUSC-KR 4 145949635 145949635 single base substitution T C intron_variant LUSC-KR 4 145952619 145952619 single base substitution G C downstream_gene_variant LUSC-KR 4 145952619 145952619 single base substitution G C intron_variant LUSC-KR 4 145953866 145953866 single base substitution G T downstream_gene_variant LUSC-KR 4 145953866 145953866 single base substitution G T intron_variant LUSC-KR 4 145955366 145955366 single base substitution C T intron_variant LUSC-KR 4 145956462 145956462 single base substitution C A intron_variant LUSC-KR 4 145968581 145968581 single base substitution T G intron_variant LUSC-KR 4 145971644 145971644 single base substitution C A downstream_gene_variant LUSC-KR 4 145971644 145971644 single base substitution C A intron_variant LUSC-KR 4 145973595 145973595 single base substitution C A downstream_gene_variant LUSC-KR 4 145973595 145973595 single base substitution C A intron_variant LUSC-KR 4 145975798 145975798 single base substitution C A intron_variant LUSC-KR 4 145982809 145982809 single base substitution C A downstream_gene_variant LUSC-KR 4 145982809 145982809 single base substitution C A intron_variant LUSC-KR 4 145983756 145983756 single base substitution C A downstream_gene_variant LUSC-KR 4 145983756 145983756 single base substitution C A intron_variant LUSC-KR 4 145986821 145986821 single base substitution T C intron_variant LUSC-KR 4 145988347 145988347 single base substitution T A intron_variant LUSC-KR 4 145992280 145992280 single base substitution C A intron_variant LUSC-KR 4 145992602 145992602 single base substitution T A intron_variant LUSC-KR 4 145999521 145999521 single base substitution G C downstream_gene_variant LUSC-KR 4 145999521 145999521 single base substitution G C intron_variant LUSC-KR 4 146000080 146000080 single base substitution T A downstream_gene_variant LUSC-KR 4 146000080 146000080 single base substitution T A intron_variant LUSC-KR 4 146000577 146000577 single base substitution T A downstream_gene_variant LUSC-KR 4 146000577 146000577 single base substitution T A intron_variant LUSC-KR 4 146014798 146014798 single base substitution G C intron_variant LUSC-KR 4 146018452 146018452 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 4 146018452 146018452 single base substitution G C intron_variant LUSC-KR 4 146020267 146020267 single base substitution T G upstream_gene_variant LUSC-KR 4 146021895 146021895 single base substitution G C upstream_gene_variant LUSC-KR 4 146024093 146024093 single base substitution G A upstream_gene_variant MALY-DE 4 145889123 145889123 single base substitution T G intron_variant MALY-DE 4 145889150 145889150 single base substitution T G intron_variant MALY-DE 4 145894088 145894088 insertion of <=200bp - A intron_variant MALY-DE 4 145897049 145897049 single base substitution G A intron_variant MALY-DE 4 145897781 145897781 single base substitution A G intron_variant MALY-DE 4 145902472 145902472 single base substitution T A intron_variant MALY-DE 4 145903178 145903178 single base substitution C T intron_variant MALY-DE 4 145914234 145914234 single base substitution C T downstream_gene_variant MALY-DE 4 145914234 145914234 single base substitution C T intron_variant MALY-DE 4 145919923 145919923 single base substitution G A intron_variant MALY-DE 4 145926743 145926743 single base substitution G A intron_variant MALY-DE 4 145929542 145929542 single base substitution G T intron_variant MALY-DE 4 145933931 145933931 single base substitution A G intron_variant MALY-DE 4 145942534 145942534 single base substitution G A intron_variant MALY-DE 4 145945867 145945867 single base substitution G A intron_variant MALY-DE 4 145949710 145949710 single base substitution C T downstream_gene_variant MALY-DE 4 145949710 145949710 single base substitution C T intron_variant MALY-DE 4 145967821 145967821 single base substitution C T intron_variant MALY-DE 4 145983442 145983442 single base substitution A C downstream_gene_variant MALY-DE 4 145983442 145983442 single base substitution A C intron_variant MALY-DE 4 145986938 145986938 single base substitution A G intron_variant MALY-DE 4 145987563 145987563 single base substitution G A intron_variant MALY-DE 4 145992703 145992703 single base substitution A G intron_variant MALY-DE 4 145996019 145996019 single base substitution A C intron_variant MALY-DE 4 146002358 146002358 single base substitution A G downstream_gene_variant MALY-DE 4 146002358 146002358 single base substitution A G intron_variant MALY-DE 4 146003132 146003132 single base substitution G A intron_variant MALY-DE 4 146018931 146018931 single base substitution A G exon_variant MALY-DE 4 146018931 146018931 single base substitution A G intron_variant MALY-DE 4 146018931 146018931 single base substitution A G upstream_gene_variant MELA-AU 4 145883286 145883286 single base substitution G A downstream_gene_variant MELA-AU 4 145883410 145883410 single base substitution C T downstream_gene_variant MELA-AU 4 145883498 145883498 single base substitution A C downstream_gene_variant MELA-AU 4 145883653 145883653 single base substitution G A downstream_gene_variant MELA-AU 4 145883730 145883730 single base substitution G A downstream_gene_variant MELA-AU 4 145883773 145883773 single base substitution G A downstream_gene_variant MELA-AU 4 145883923 145883923 single base substitution G A downstream_gene_variant MELA-AU 4 145883948 145883948 single base substitution G A downstream_gene_variant MELA-AU 4 145883965 145883965 single base substitution C T downstream_gene_variant MELA-AU 4 145884003 145884003 single base substitution C T downstream_gene_variant MELA-AU 4 145884043 145884043 single base substitution G A downstream_gene_variant MELA-AU 4 145884298 145884298 single base substitution T C downstream_gene_variant MELA-AU 4 145884786 145884786 single base substitution G A downstream_gene_variant MELA-AU 4 145885366 145885366 single base substitution G A downstream_gene_variant MELA-AU 4 145885642 145885642 single base substitution G A downstream_gene_variant MELA-AU 4 145885883 145885883 single base substitution C T downstream_gene_variant MELA-AU 4 145885884 145885885 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 4 145886131 145886131 single base substitution G A downstream_gene_variant MELA-AU 4 145886225 145886225 single base substitution A T downstream_gene_variant MELA-AU 4 145886237 145886237 single base substitution C G downstream_gene_variant MELA-AU 4 145886253 145886253 single base substitution G C downstream_gene_variant MELA-AU 4 145886410 145886410 single base substitution G A downstream_gene_variant MELA-AU 4 145886483 145886483 single base substitution G A downstream_gene_variant MELA-AU 4 145886582 145886582 single base substitution G A downstream_gene_variant MELA-AU 4 145886755 145886755 single base substitution T C downstream_gene_variant MELA-AU 4 145886793 145886793 single base substitution G A downstream_gene_variant MELA-AU 4 145887101 145887101 single base substitution G A downstream_gene_variant MELA-AU 4 145887222 145887222 single base substitution G A downstream_gene_variant MELA-AU 4 145887457 145887457 single base substitution G A downstream_gene_variant MELA-AU 4 145887839 145887839 single base substitution G A downstream_gene_variant MELA-AU 4 145887860 145887860 single base substitution C T downstream_gene_variant MELA-AU 4 145887894 145887894 single base substitution A T downstream_gene_variant MELA-AU 4 145888193 145888193 single base substitution C A downstream_gene_variant MELA-AU 4 145888301 145888301 single base substitution G A exon_variant MELA-AU 4 145888792 145888792 single base substitution C T intron_variant MELA-AU 4 145889096 145889096 single base substitution G A intron_variant MELA-AU 4 145889436 145889436 single base substitution G A intron_variant MELA-AU 4 145889455 145889455 single base substitution C T intron_variant MELA-AU 4 145889540 145889540 single base substitution G A intron_variant MELA-AU 4 145889560 145889560 single base substitution T C intron_variant MELA-AU 4 145889962 145889962 single base substitution C T intron_variant MELA-AU 4 145890084 145890084 single base substitution G A intron_variant MELA-AU 4 145890215 145890215 single base substitution G A intron_variant MELA-AU 4 145890334 145890334 single base substitution G A intron_variant MELA-AU 4 145890450 145890450 single base substitution G A intron_variant MELA-AU 4 145890761 145890761 single base substitution C G intron_variant MELA-AU 4 145890913 145890913 single base substitution C T intron_variant MELA-AU 4 145891046 145891046 single base substitution A G intron_variant MELA-AU 4 145891137 145891137 single base substitution C T intron_variant MELA-AU 4 145891149 145891149 single base substitution G A intron_variant MELA-AU 4 145891264 145891264 single base substitution C T intron_variant MELA-AU 4 145891354 145891354 single base substitution G A intron_variant MELA-AU 4 145891421 145891421 single base substitution G A intron_variant MELA-AU 4 145891586 145891586 single base substitution G A intron_variant MELA-AU 4 145891739 145891739 single base substitution G A intron_variant MELA-AU 4 145892049 145892049 single base substitution C T intron_variant MELA-AU 4 145892349 145892349 single base substitution G A intron_variant MELA-AU 4 145892518 145892518 single base substitution A G intron_variant MELA-AU 4 145892801 145892801 single base substitution G A intron_variant MELA-AU 4 145892967 145892967 single base substitution G A intron_variant MELA-AU 4 145893159 145893159 single base substitution G A intron_variant MELA-AU 4 145893415 145893415 single base substitution G A intron_variant MELA-AU 4 145893436 145893436 single base substitution G A intron_variant MELA-AU 4 145893447 145893447 single base substitution G A intron_variant MELA-AU 4 145893466 145893466 single base substitution G A intron_variant MELA-AU 4 145893758 145893758 single base substitution G A intron_variant MELA-AU 4 145893978 145893979 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 145893995 145893995 single base substitution T C intron_variant MELA-AU 4 145894139 145894139 single base substitution G A intron_variant MELA-AU 4 145894189 145894189 single base substitution G A intron_variant MELA-AU 4 145894356 145894356 single base substitution T C intron_variant MELA-AU 4 145894545 145894545 single base substitution C T intron_variant MELA-AU 4 145894717 145894717 single base substitution G A intron_variant MELA-AU 4 145894930 145894930 single base substitution G A intron_variant MELA-AU 4 145895039 145895039 single base substitution G A intron_variant MELA-AU 4 145895289 145895289 single base substitution G A intron_variant MELA-AU 4 145895383 145895383 single base substitution G A intron_variant MELA-AU 4 145895497 145895497 single base substitution A G intron_variant MELA-AU 4 145895499 145895499 single base substitution G A intron_variant MELA-AU 4 145895674 145895674 single base substitution G A intron_variant MELA-AU 4 145895816 145895816 single base substitution G T intron_variant MELA-AU 4 145895850 145895850 single base substitution C T intron_variant MELA-AU 4 145896165 145896165 single base substitution G A intron_variant MELA-AU 4 145896231 145896231 single base substitution G A intron_variant MELA-AU 4 145896258 145896258 single base substitution G A intron_variant MELA-AU 4 145896333 145896333 single base substitution G A intron_variant MELA-AU 4 145897360 145897360 single base substitution G A intron_variant MELA-AU 4 145897400 145897400 single base substitution G A intron_variant MELA-AU 4 145897673 145897674 multiple base substitution (>=2bp and <=200bp) GG AG intron_variant MELA-AU 4 145897817 145897817 single base substitution C T intron_variant MELA-AU 4 145898356 145898356 single base substitution G A intron_variant MELA-AU 4 145898455 145898455 single base substitution G A intron_variant MELA-AU 4 145899233 145899233 single base substitution G A intron_variant MELA-AU 4 145899804 145899804 single base substitution C T intron_variant MELA-AU 4 145899977 145899977 single base substitution G A intron_variant MELA-AU 4 145900213 145900213 single base substitution G A intron_variant MELA-AU 4 145900461 145900461 single base substitution C T intron_variant MELA-AU 4 145900578 145900578 single base substitution G A intron_variant MELA-AU 4 145901047 145901047 single base substitution G A intron_variant MELA-AU 4 145901463 145901463 single base substitution G A intron_variant MELA-AU 4 145901649 145901649 single base substitution G A intron_variant MELA-AU 4 145901678 145901678 single base substitution A C intron_variant MELA-AU 4 145901679 145901679 single base substitution G A intron_variant MELA-AU 4 145901682 145901682 single base substitution C A intron_variant MELA-AU 4 145901771 145901771 single base substitution G A intron_variant MELA-AU 4 145901779 145901779 single base substitution C T intron_variant MELA-AU 4 145902286 145902286 single base substitution G A intron_variant MELA-AU 4 145902629 145902629 single base substitution T C intron_variant MELA-AU 4 145902662 145902662 single base substitution G A intron_variant MELA-AU 4 145902841 145902841 single base substitution G A intron_variant MELA-AU 4 145902890 145902890 single base substitution G A intron_variant MELA-AU 4 145903158 145903158 single base substitution G A intron_variant MELA-AU 4 145903410 145903410 single base substitution G A intron_variant MELA-AU 4 145903546 145903546 single base substitution A C intron_variant MELA-AU 4 145904005 145904005 single base substitution A G intron_variant MELA-AU 4 145904060 145904060 single base substitution C T intron_variant MELA-AU 4 145904081 145904081 single base substitution G A intron_variant MELA-AU 4 145904325 145904325 single base substitution A C intron_variant MELA-AU 4 145904681 145904681 single base substitution T A intron_variant MELA-AU 4 145904896 145904896 single base substitution G A intron_variant MELA-AU 4 145904907 145904907 single base substitution G A intron_variant MELA-AU 4 145905083 145905083 single base substitution G A intron_variant MELA-AU 4 145905242 145905242 single base substitution G A intron_variant MELA-AU 4 145905647 145905647 single base substitution G A intron_variant MELA-AU 4 145905888 145905888 single base substitution G A intron_variant MELA-AU 4 145905987 145905987 single base substitution C T intron_variant MELA-AU 4 145906087 145906087 single base substitution A C intron_variant MELA-AU 4 145906284 145906284 single base substitution A C intron_variant MELA-AU 4 145906411 145906411 single base substitution G A intron_variant MELA-AU 4 145907193 145907193 single base substitution G A intron_variant MELA-AU 4 145907568 145907568 single base substitution A G intron_variant MELA-AU 4 145907646 145907646 single base substitution G A intron_variant MELA-AU 4 145907668 145907668 single base substitution T C intron_variant MELA-AU 4 145908125 145908125 single base substitution G A intron_variant MELA-AU 4 145908226 145908226 single base substitution G A intron_variant MELA-AU 4 145908311 145908311 single base substitution G A intron_variant MELA-AU 4 145908498 145908498 single base substitution G A intron_variant MELA-AU 4 145908504 145908504 single base substitution G A intron_variant MELA-AU 4 145908654 145908654 single base substitution G C intron_variant MELA-AU 4 145910398 145910398 single base substitution C T intron_variant MELA-AU 4 145911536 145911536 single base substitution G A downstream_gene_variant MELA-AU 4 145911536 145911536 single base substitution G A intron_variant MELA-AU 4 145911916 145911916 single base substitution G A downstream_gene_variant MELA-AU 4 145911916 145911916 single base substitution G A intron_variant MELA-AU 4 145912081 145912081 single base substitution G A downstream_gene_variant MELA-AU 4 145912081 145912081 single base substitution G A intron_variant MELA-AU 4 145912091 145912091 single base substitution C T downstream_gene_variant MELA-AU 4 145912091 145912091 single base substitution C T intron_variant MELA-AU 4 145912136 145912136 single base substitution G A downstream_gene_variant MELA-AU 4 145912136 145912136 single base substitution G A intron_variant MELA-AU 4 145913020 145913020 single base substitution T G downstream_gene_variant MELA-AU 4 145913020 145913020 single base substitution T G intron_variant MELA-AU 4 145913028 145913028 single base substitution G A downstream_gene_variant MELA-AU 4 145913028 145913028 single base substitution G A intron_variant MELA-AU 4 145913059 145913059 single base substitution G A downstream_gene_variant MELA-AU 4 145913059 145913059 single base substitution G A intron_variant MELA-AU 4 145913277 145913277 single base substitution G A downstream_gene_variant MELA-AU 4 145913277 145913277 single base substitution G A intron_variant MELA-AU 4 145913535 145913535 single base substitution G A downstream_gene_variant MELA-AU 4 145913535 145913535 single base substitution G A intron_variant MELA-AU 4 145913654 145913654 single base substitution G A downstream_gene_variant MELA-AU 4 145913654 145913654 single base substitution G A intron_variant MELA-AU 4 145913837 145913837 single base substitution G A downstream_gene_variant MELA-AU 4 145913837 145913837 single base substitution G A intron_variant MELA-AU 4 145914140 145914140 single base substitution G A downstream_gene_variant MELA-AU 4 145914140 145914140 single base substitution G A intron_variant MELA-AU 4 145914413 145914413 single base substitution T A downstream_gene_variant MELA-AU 4 145914413 145914413 single base substitution T A intron_variant MELA-AU 4 145914730 145914730 single base substitution T C downstream_gene_variant MELA-AU 4 145914730 145914730 single base substitution T C intron_variant MELA-AU 4 145914950 145914950 single base substitution T A downstream_gene_variant MELA-AU 4 145914950 145914950 single base substitution T A intron_variant MELA-AU 4 145914952 145914952 single base substitution A T downstream_gene_variant MELA-AU 4 145914952 145914952 single base substitution A T intron_variant MELA-AU 4 145914990 145914990 single base substitution G A downstream_gene_variant MELA-AU 4 145914990 145914990 single base substitution G A intron_variant MELA-AU 4 145915160 145915160 single base substitution G A downstream_gene_variant MELA-AU 4 145915160 145915160 single base substitution G A intron_variant MELA-AU 4 145915232 145915232 single base substitution C T downstream_gene_variant MELA-AU 4 145915232 145915232 single base substitution C T intron_variant MELA-AU 4 145915430 145915430 single base substitution C T downstream_gene_variant MELA-AU 4 145915430 145915430 single base substitution C T intron_variant MELA-AU 4 145915507 145915507 single base substitution G A downstream_gene_variant MELA-AU 4 145915507 145915507 single base substitution G A intron_variant MELA-AU 4 145916043 145916043 single base substitution A T downstream_gene_variant MELA-AU 4 145916043 145916043 single base substitution A T intron_variant MELA-AU 4 145916155 145916155 single base substitution A C 3_prime_UTR_variant MELA-AU 4 145916155 145916155 single base substitution A C downstream_gene_variant MELA-AU 4 145916155 145916155 single base substitution A C exon_variant MELA-AU 4 145916155 145916155 single base substitution A C intron_variant MELA-AU 4 145916282 145916282 single base substitution G A 3_prime_UTR_variant MELA-AU 4 145916282 145916282 single base substitution G A downstream_gene_variant MELA-AU 4 145916282 145916282 single base substitution G A exon_variant MELA-AU 4 145916282 145916282 single base substitution G A intron_variant MELA-AU 4 145917132 145917132 single base substitution G A intron_variant MELA-AU 4 145917138 145917138 single base substitution G A intron_variant MELA-AU 4 145917185 145917185 single base substitution G A intron_variant MELA-AU 4 145917209 145917209 single base substitution G A intron_variant MELA-AU 4 145917219 145917219 single base substitution G A intron_variant MELA-AU 4 145917587 145917587 single base substitution G A intron_variant MELA-AU 4 145917777 145917777 single base substitution G A intron_variant MELA-AU 4 145917778 145917778 single base substitution G A intron_variant MELA-AU 4 145917879 145917879 single base substitution G A intron_variant MELA-AU 4 145917990 145917990 single base substitution G A intron_variant MELA-AU 4 145918266 145918266 single base substitution G A intron_variant MELA-AU 4 145918501 145918501 single base substitution T A intron_variant MELA-AU 4 145918574 145918574 single base substitution G A intron_variant MELA-AU 4 145918598 145918598 single base substitution G A intron_variant MELA-AU 4 145918729 145918729 single base substitution G A intron_variant MELA-AU 4 145919054 145919054 single base substitution G A intron_variant MELA-AU 4 145919353 145919353 single base substitution G A intron_variant MELA-AU 4 145919640 145919640 single base substitution G A intron_variant MELA-AU 4 145919781 145919781 single base substitution G A intron_variant MELA-AU 4 145919847 145919847 single base substitution A C intron_variant MELA-AU 4 145919935 145919935 single base substitution G A intron_variant MELA-AU 4 145920095 145920095 single base substitution G A intron_variant MELA-AU 4 145920220 145920220 single base substitution A G intron_variant MELA-AU 4 145920235 145920235 single base substitution G T intron_variant MELA-AU 4 145920322 145920322 single base substitution C T intron_variant MELA-AU 4 145920394 145920394 single base substitution G A intron_variant MELA-AU 4 145920638 145920638 single base substitution G A intron_variant MELA-AU 4 145920845 145920845 deletion of <=200bp A - intron_variant MELA-AU 4 145921108 145921108 single base substitution G A intron_variant MELA-AU 4 145921388 145921388 single base substitution A T intron_variant MELA-AU 4 145921670 145921670 single base substitution G A intron_variant MELA-AU 4 145922177 145922177 single base substitution G A intron_variant MELA-AU 4 145922616 145922616 single base substitution G A intron_variant MELA-AU 4 145923080 145923080 single base substitution G A intron_variant MELA-AU 4 145924485 145924485 single base substitution T C intron_variant MELA-AU 4 145924513 145924513 single base substitution G A intron_variant MELA-AU 4 145925115 145925116 multiple base substitution (>=2bp and <=200bp) AT GA intron_variant MELA-AU 4 145925131 145925131 single base substitution G A intron_variant MELA-AU 4 145925360 145925360 single base substitution G A intron_variant MELA-AU 4 145926275 145926275 single base substitution T C intron_variant MELA-AU 4 145926427 145926427 single base substitution G A intron_variant MELA-AU 4 145926675 145926675 single base substitution G A intron_variant MELA-AU 4 145927066 145927066 single base substitution G A intron_variant MELA-AU 4 145927408 145927408 single base substitution G A intron_variant MELA-AU 4 145927596 145927596 single base substitution G A intron_variant MELA-AU 4 145927788 145927788 single base substitution G A intron_variant MELA-AU 4 145928126 145928126 single base substitution C T intron_variant MELA-AU 4 145928183 145928183 single base substitution G A intron_variant MELA-AU 4 145928206 145928206 single base substitution G A intron_variant MELA-AU 4 145928248 145928248 single base substitution T A intron_variant MELA-AU 4 145928458 145928458 single base substitution G A intron_variant MELA-AU 4 145928509 145928509 single base substitution C T intron_variant MELA-AU 4 145928538 145928538 single base substitution G A intron_variant MELA-AU 4 145929085 145929085 single base substitution C T intron_variant MELA-AU 4 145929566 145929566 single base substitution G A intron_variant MELA-AU 4 145929635 145929635 single base substitution C T intron_variant MELA-AU 4 145929642 145929642 single base substitution G A intron_variant MELA-AU 4 145930474 145930474 single base substitution G A intron_variant MELA-AU 4 145930499 145930499 single base substitution G A intron_variant MELA-AU 4 145930697 145930697 deletion of <=200bp A - intron_variant MELA-AU 4 145930754 145930754 single base substitution G A intron_variant MELA-AU 4 145931142 145931142 single base substitution A G intron_variant MELA-AU 4 145931598 145931598 single base substitution G A intron_variant MELA-AU 4 145931630 145931630 single base substitution G A intron_variant MELA-AU 4 145932023 145932023 single base substitution G T intron_variant MELA-AU 4 145932820 145932820 single base substitution A C intron_variant MELA-AU 4 145932866 145932866 single base substitution G A intron_variant MELA-AU 4 145933015 145933015 single base substitution G A intron_variant MELA-AU 4 145934779 145934779 single base substitution T A intron_variant MELA-AU 4 145934792 145934792 single base substitution C T intron_variant MELA-AU 4 145934795 145934795 single base substitution G A intron_variant MELA-AU 4 145934924 145934924 single base substitution G A intron_variant MELA-AU 4 145934945 145934945 single base substitution C G intron_variant MELA-AU 4 145935254 145935255 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 145935438 145935438 single base substitution G A intron_variant MELA-AU 4 145936154 145936154 single base substitution A G intron_variant MELA-AU 4 145936547 145936547 single base substitution A T intron_variant MELA-AU 4 145937372 145937372 single base substitution C T intron_variant MELA-AU 4 145937412 145937412 single base substitution A G intron_variant MELA-AU 4 145937448 145937448 single base substitution A T intron_variant MELA-AU 4 145939094 145939094 single base substitution G A intron_variant MELA-AU 4 145939416 145939416 single base substitution A G intron_variant MELA-AU 4 145939441 145939441 single base substitution A G intron_variant MELA-AU 4 145939525 145939525 single base substitution C T intron_variant MELA-AU 4 145941475 145941475 single base substitution A G intron_variant MELA-AU 4 145942023 145942023 single base substitution C A intron_variant MELA-AU 4 145942785 145942785 single base substitution A G intron_variant MELA-AU 4 145942932 145942932 single base substitution G A intron_variant MELA-AU 4 145943518 145943518 single base substitution G A intron_variant MELA-AU 4 145943569 145943569 single base substitution G A intron_variant MELA-AU 4 145943648 145943648 single base substitution G A intron_variant MELA-AU 4 145943802 145943802 single base substitution G A intron_variant MELA-AU 4 145944877 145944893 deletion of <=200bp TAACCTTTTTGCTGGTG - intron_variant MELA-AU 4 145946031 145946031 single base substitution T C intron_variant MELA-AU 4 145946033 145946033 single base substitution C T intron_variant MELA-AU 4 145946180 145946180 single base substitution G A intron_variant MELA-AU 4 145946429 145946429 single base substitution G A intron_variant MELA-AU 4 145946744 145946744 single base substitution G A intron_variant MELA-AU 4 145946986 145946986 single base substitution G A intron_variant MELA-AU 4 145947017 145947017 single base substitution A G intron_variant MELA-AU 4 145947881 145947881 single base substitution G A intron_variant MELA-AU 4 145948642 145948642 single base substitution G A intron_variant MELA-AU 4 145948743 145948743 single base substitution G A intron_variant MELA-AU 4 145949053 145949053 single base substitution A T intron_variant MELA-AU 4 145949358 145949359 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 145949358 145949359 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 145949359 145949359 single base substitution G A downstream_gene_variant MELA-AU 4 145949359 145949359 single base substitution G A intron_variant MELA-AU 4 145949416 145949416 single base substitution A G downstream_gene_variant MELA-AU 4 145949416 145949416 single base substitution A G intron_variant MELA-AU 4 145949707 145949707 single base substitution G A downstream_gene_variant MELA-AU 4 145949707 145949707 single base substitution G A intron_variant MELA-AU 4 145949958 145949958 single base substitution G A downstream_gene_variant MELA-AU 4 145949958 145949958 single base substitution G A intron_variant MELA-AU 4 145950898 145950898 single base substitution G T downstream_gene_variant MELA-AU 4 145950898 145950898 single base substitution G T intron_variant MELA-AU 4 145951168 145951193 deletion of <=200bp GCACTCAATCATCAAAGGCAAGGTAG - downstream_gene_variant MELA-AU 4 145951168 145951193 deletion of <=200bp GCACTCAATCATCAAAGGCAAGGTAG - intron_variant MELA-AU 4 145951211 145951211 single base substitution G A downstream_gene_variant MELA-AU 4 145951211 145951211 single base substitution G A intron_variant MELA-AU 4 145951444 145951444 single base substitution A C downstream_gene_variant MELA-AU 4 145951444 145951444 single base substitution A C intron_variant MELA-AU 4 145951478 145951478 single base substitution G A downstream_gene_variant MELA-AU 4 145951478 145951478 single base substitution G A intron_variant MELA-AU 4 145951720 145951720 single base substitution G A downstream_gene_variant MELA-AU 4 145951720 145951720 single base substitution G A intron_variant MELA-AU 4 145952508 145952509 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 145952508 145952509 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 145952854 145952854 single base substitution G A downstream_gene_variant MELA-AU 4 145952854 145952854 single base substitution G A intron_variant MELA-AU 4 145953764 145953764 single base substitution G A downstream_gene_variant MELA-AU 4 145953764 145953764 single base substitution G A intron_variant MELA-AU 4 145953990 145953990 single base substitution G A downstream_gene_variant MELA-AU 4 145953990 145953990 single base substitution G A intron_variant MELA-AU 4 145954012 145954012 single base substitution A T downstream_gene_variant MELA-AU 4 145954012 145954012 single base substitution A T intron_variant MELA-AU 4 145954033 145954033 single base substitution G A downstream_gene_variant MELA-AU 4 145954033 145954033 single base substitution G A intron_variant MELA-AU 4 145954620 145954620 single base substitution G A intron_variant MELA-AU 4 145955157 145955157 single base substitution G A intron_variant MELA-AU 4 145955699 145955699 single base substitution G A intron_variant MELA-AU 4 145955896 145955896 single base substitution G A intron_variant MELA-AU 4 145956756 145956756 single base substitution G A intron_variant MELA-AU 4 145956993 145956993 single base substitution T C intron_variant MELA-AU 4 145957335 145957335 single base substitution T A intron_variant MELA-AU 4 145957564 145957564 single base substitution A G intron_variant MELA-AU 4 145958578 145958578 single base substitution A T intron_variant MELA-AU 4 145959146 145959146 single base substitution G A intron_variant MELA-AU 4 145959309 145959309 single base substitution G A intron_variant MELA-AU 4 145959631 145959631 single base substitution C G intron_variant MELA-AU 4 145960358 145960358 single base substitution G A intron_variant MELA-AU 4 145961014 145961014 single base substitution G A intron_variant MELA-AU 4 145961569 145961569 single base substitution G A intron_variant MELA-AU 4 145964025 145964025 single base substitution T A intron_variant MELA-AU 4 145964763 145964763 single base substitution C T intron_variant MELA-AU 4 145965281 145965281 single base substitution G A intron_variant MELA-AU 4 145965489 145965489 single base substitution G A intron_variant MELA-AU 4 145965588 145965588 single base substitution C T intron_variant MELA-AU 4 145965659 145965659 single base substitution A C intron_variant MELA-AU 4 145965720 145965720 single base substitution G A intron_variant MELA-AU 4 145966332 145966332 single base substitution C T intron_variant MELA-AU 4 145966343 145966343 single base substitution T G intron_variant MELA-AU 4 145967170 145967170 single base substitution T C intron_variant MELA-AU 4 145967237 145967237 single base substitution C T intron_variant MELA-AU 4 145967622 145967622 single base substitution G A intron_variant MELA-AU 4 145967656 145967656 single base substitution A T intron_variant MELA-AU 4 145967832 145967832 single base substitution G A intron_variant MELA-AU 4 145967833 145967833 single base substitution G A intron_variant MELA-AU 4 145967880 145967880 single base substitution G A intron_variant MELA-AU 4 145967924 145967924 single base substitution G A intron_variant MELA-AU 4 145969906 145969906 single base substitution A T downstream_gene_variant MELA-AU 4 145969906 145969906 single base substitution A T intron_variant MELA-AU 4 145970028 145970028 single base substitution T C downstream_gene_variant MELA-AU 4 145970028 145970028 single base substitution T C intron_variant MELA-AU 4 145970031 145970031 single base substitution G A downstream_gene_variant MELA-AU 4 145970031 145970031 single base substitution G A intron_variant MELA-AU 4 145971430 145971430 single base substitution C G downstream_gene_variant MELA-AU 4 145971430 145971430 single base substitution C G intron_variant MELA-AU 4 145971462 145971462 single base substitution G A downstream_gene_variant MELA-AU 4 145971462 145971462 single base substitution G A intron_variant MELA-AU 4 145971586 145971586 single base substitution A G downstream_gene_variant MELA-AU 4 145971586 145971586 single base substitution A G intron_variant MELA-AU 4 145971797 145971797 single base substitution A G downstream_gene_variant MELA-AU 4 145971797 145971797 single base substitution A G intron_variant MELA-AU 4 145972092 145972092 single base substitution A G downstream_gene_variant MELA-AU 4 145972092 145972092 single base substitution A G intron_variant MELA-AU 4 145972367 145972367 single base substitution G A downstream_gene_variant MELA-AU 4 145972367 145972367 single base substitution G A intron_variant MELA-AU 4 145972521 145972521 single base substitution G A downstream_gene_variant MELA-AU 4 145972521 145972521 single base substitution G A intron_variant MELA-AU 4 145972555 145972555 single base substitution G A downstream_gene_variant MELA-AU 4 145972555 145972555 single base substitution G A intron_variant MELA-AU 4 145972988 145972988 deletion of <=200bp A - downstream_gene_variant MELA-AU 4 145972988 145972988 deletion of <=200bp A - intron_variant MELA-AU 4 145972997 145972997 single base substitution G A downstream_gene_variant MELA-AU 4 145972997 145972997 single base substitution G A intron_variant MELA-AU 4 145973018 145973018 single base substitution G A downstream_gene_variant MELA-AU 4 145973018 145973018 single base substitution G A intron_variant MELA-AU 4 145973222 145973222 single base substitution G A downstream_gene_variant MELA-AU 4 145973222 145973222 single base substitution G A intron_variant MELA-AU 4 145973547 145973547 single base substitution A T downstream_gene_variant MELA-AU 4 145973547 145973547 single base substitution A T intron_variant MELA-AU 4 145973812 145973812 single base substitution G A downstream_gene_variant MELA-AU 4 145973812 145973812 single base substitution G A intron_variant MELA-AU 4 145973966 145973966 single base substitution G A downstream_gene_variant MELA-AU 4 145973966 145973966 single base substitution G A intron_variant MELA-AU 4 145974057 145974057 single base substitution G A downstream_gene_variant MELA-AU 4 145974057 145974057 single base substitution G A intron_variant MELA-AU 4 145974337 145974337 single base substitution A C downstream_gene_variant MELA-AU 4 145974337 145974337 single base substitution A C intron_variant MELA-AU 4 145975203 145975203 single base substitution G A intron_variant MELA-AU 4 145975467 145975467 single base substitution G A intron_variant MELA-AU 4 145975691 145975691 single base substitution G A intron_variant MELA-AU 4 145976071 145976071 single base substitution A G intron_variant MELA-AU 4 145977701 145977701 single base substitution C A intron_variant MELA-AU 4 145977986 145977986 single base substitution C G intron_variant MELA-AU 4 145979468 145979468 single base substitution G A intron_variant MELA-AU 4 145980137 145980137 single base substitution T A intron_variant MELA-AU 4 145980984 145980984 single base substitution G A downstream_gene_variant MELA-AU 4 145980984 145980984 single base substitution G A intron_variant MELA-AU 4 145981035 145981035 single base substitution C T downstream_gene_variant MELA-AU 4 145981035 145981035 single base substitution C T intron_variant MELA-AU 4 145981089 145981089 single base substitution G T downstream_gene_variant MELA-AU 4 145981089 145981089 single base substitution G T intron_variant MELA-AU 4 145981426 145981426 single base substitution C G downstream_gene_variant MELA-AU 4 145981426 145981426 single base substitution C G intron_variant MELA-AU 4 145981496 145981496 single base substitution G A downstream_gene_variant MELA-AU 4 145981496 145981496 single base substitution G A intron_variant MELA-AU 4 145981576 145981576 single base substitution G A downstream_gene_variant MELA-AU 4 145981576 145981576 single base substitution G A intron_variant MELA-AU 4 145982124 145982130 deletion of <=200bp CGAGCTG - downstream_gene_variant MELA-AU 4 145982124 145982130 deletion of <=200bp CGAGCTG - intron_variant MELA-AU 4 145982219 145982219 single base substitution A G downstream_gene_variant MELA-AU 4 145982219 145982219 single base substitution A G intron_variant MELA-AU 4 145983083 145983090 deletion of <=200bp AACCCCAT - downstream_gene_variant MELA-AU 4 145983083 145983090 deletion of <=200bp AACCCCAT - intron_variant MELA-AU 4 145983579 145983579 single base substitution G A downstream_gene_variant MELA-AU 4 145983579 145983579 single base substitution G A intron_variant MELA-AU 4 145983678 145983678 single base substitution G A downstream_gene_variant MELA-AU 4 145983678 145983678 single base substitution G A intron_variant MELA-AU 4 145984219 145984219 single base substitution G A downstream_gene_variant MELA-AU 4 145984219 145984219 single base substitution G A intron_variant MELA-AU 4 145984490 145984490 single base substitution C T downstream_gene_variant MELA-AU 4 145984490 145984490 single base substitution C T intron_variant MELA-AU 4 145985049 145985049 single base substitution T C downstream_gene_variant MELA-AU 4 145985049 145985049 single base substitution T C intron_variant MELA-AU 4 145985067 145985067 single base substitution G A downstream_gene_variant MELA-AU 4 145985067 145985067 single base substitution G A intron_variant MELA-AU 4 145985302 145985302 single base substitution G A downstream_gene_variant MELA-AU 4 145985302 145985302 single base substitution G A exon_variant MELA-AU 4 145985302 145985302 single base substitution G A intron_variant MELA-AU 4 145986657 145986657 single base substitution A C intron_variant MELA-AU 4 145987049 145987049 single base substitution G A intron_variant MELA-AU 4 145987064 145987064 single base substitution C T intron_variant MELA-AU 4 145987073 145987073 single base substitution G A intron_variant MELA-AU 4 145987130 145987130 single base substitution G A intron_variant MELA-AU 4 145988076 145988076 single base substitution A C intron_variant MELA-AU 4 145988890 145988890 single base substitution G A intron_variant MELA-AU 4 145989626 145989626 single base substitution A C intron_variant MELA-AU 4 145989772 145989772 single base substitution G A intron_variant MELA-AU 4 145989965 145989965 single base substitution G A intron_variant MELA-AU 4 145989977 145989977 single base substitution G A intron_variant MELA-AU 4 145990374 145990374 single base substitution A G intron_variant MELA-AU 4 145990510 145990510 single base substitution C T intron_variant MELA-AU 4 145991724 145991724 single base substitution G A intron_variant MELA-AU 4 145992049 145992049 single base substitution A C intron_variant MELA-AU 4 145992066 145992066 single base substitution C T intron_variant MELA-AU 4 145992678 145992678 single base substitution A T intron_variant MELA-AU 4 145993641 145993641 single base substitution C T intron_variant MELA-AU 4 145994465 145994465 single base substitution A G intron_variant MELA-AU 4 145996259 145996259 single base substitution C G intron_variant MELA-AU 4 145996641 145996641 single base substitution A G intron_variant MELA-AU 4 145997071 145997071 single base substitution G A intron_variant MELA-AU 4 145998354 145998354 single base substitution A G downstream_gene_variant MELA-AU 4 145998354 145998354 single base substitution A G intron_variant MELA-AU 4 145999111 145999111 single base substitution G A downstream_gene_variant MELA-AU 4 145999111 145999111 single base substitution G A intron_variant MELA-AU 4 145999203 145999203 single base substitution G A downstream_gene_variant MELA-AU 4 145999203 145999203 single base substitution G A intron_variant MELA-AU 4 145999691 145999691 single base substitution G A downstream_gene_variant MELA-AU 4 145999691 145999691 single base substitution G A intron_variant MELA-AU 4 146000273 146000273 single base substitution T C downstream_gene_variant MELA-AU 4 146000273 146000273 single base substitution T C intron_variant MELA-AU 4 146000368 146000368 single base substitution G A downstream_gene_variant MELA-AU 4 146000368 146000368 single base substitution G A intron_variant MELA-AU 4 146000396 146000396 single base substitution G A downstream_gene_variant MELA-AU 4 146000396 146000396 single base substitution G A intron_variant MELA-AU 4 146000418 146000418 single base substitution G A downstream_gene_variant MELA-AU 4 146000418 146000418 single base substitution G A intron_variant MELA-AU 4 146000713 146000713 single base substitution A G downstream_gene_variant MELA-AU 4 146000713 146000713 single base substitution A G intron_variant MELA-AU 4 146000863 146000863 single base substitution A C downstream_gene_variant MELA-AU 4 146000863 146000863 single base substitution A C intron_variant MELA-AU 4 146001084 146001084 single base substitution G A downstream_gene_variant MELA-AU 4 146001084 146001084 single base substitution G A intron_variant MELA-AU 4 146001511 146001511 single base substitution G A downstream_gene_variant MELA-AU 4 146001511 146001511 single base substitution G A intron_variant MELA-AU 4 146001705 146001705 single base substitution T A downstream_gene_variant MELA-AU 4 146001705 146001705 single base substitution T A intron_variant MELA-AU 4 146002392 146002392 single base substitution A T downstream_gene_variant MELA-AU 4 146002392 146002392 single base substitution A T intron_variant MELA-AU 4 146003011 146003011 single base substitution G A intron_variant MELA-AU 4 146003351 146003351 single base substitution G A intron_variant MELA-AU 4 146003479 146003479 single base substitution T C intron_variant MELA-AU 4 146003924 146003924 single base substitution A G intron_variant MELA-AU 4 146006178 146006178 single base substitution A T intron_variant MELA-AU 4 146007830 146007830 single base substitution G A intron_variant MELA-AU 4 146007981 146007981 single base substitution G A intron_variant MELA-AU 4 146008026 146008026 single base substitution G A intron_variant MELA-AU 4 146008108 146008108 single base substitution G A intron_variant MELA-AU 4 146008410 146008410 single base substitution T A intron_variant MELA-AU 4 146008503 146008503 single base substitution G A intron_variant MELA-AU 4 146008760 146008760 single base substitution G A intron_variant MELA-AU 4 146008950 146008950 single base substitution G A intron_variant MELA-AU 4 146009094 146009094 single base substitution G A intron_variant MELA-AU 4 146010109 146010109 single base substitution C T intron_variant MELA-AU 4 146010276 146010276 single base substitution C T intron_variant MELA-AU 4 146010442 146010442 single base substitution G A intron_variant MELA-AU 4 146011857 146011857 single base substitution A C intron_variant MELA-AU 4 146012202 146012202 single base substitution G A intron_variant MELA-AU 4 146013005 146013005 single base substitution G A intron_variant MELA-AU 4 146013048 146013048 single base substitution A C intron_variant MELA-AU 4 146013104 146013104 single base substitution G A intron_variant MELA-AU 4 146013291 146013291 single base substitution G A intron_variant MELA-AU 4 146013328 146013328 single base substitution G A intron_variant MELA-AU 4 146013339 146013339 single base substitution G A intron_variant MELA-AU 4 146013913 146013914 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 146014283 146014283 single base substitution G A intron_variant MELA-AU 4 146014860 146014860 single base substitution G A intron_variant MELA-AU 4 146015120 146015120 single base substitution A G intron_variant MELA-AU 4 146015223 146015223 single base substitution G A intron_variant MELA-AU 4 146015683 146015684 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 4 146015801 146015801 single base substitution A G intron_variant MELA-AU 4 146015804 146015804 single base substitution G A intron_variant MELA-AU 4 146015842 146015842 single base substitution C T intron_variant MELA-AU 4 146016264 146016264 single base substitution A G intron_variant MELA-AU 4 146017972 146017972 single base substitution G A intron_variant MELA-AU 4 146018139 146018139 single base substitution G A intron_variant MELA-AU 4 146018425 146018425 single base substitution A G 5_prime_UTR_variant MELA-AU 4 146018425 146018425 single base substitution A G intron_variant MELA-AU 4 146019052 146019052 single base substitution G C 5_prime_UTR_variant MELA-AU 4 146019052 146019052 single base substitution G C exon_variant MELA-AU 4 146019052 146019052 single base substitution G C intron_variant MELA-AU 4 146019052 146019052 single base substitution G C upstream_gene_variant MELA-AU 4 146019376 146019376 single base substitution C T intron_variant MELA-AU 4 146019376 146019376 single base substitution C T upstream_gene_variant MELA-AU 4 146019378 146019378 single base substitution C T intron_variant MELA-AU 4 146019378 146019378 single base substitution C T upstream_gene_variant MELA-AU 4 146019379 146019379 single base substitution C T intron_variant MELA-AU 4 146019379 146019379 single base substitution C T upstream_gene_variant MELA-AU 4 146020300 146020300 single base substitution C T upstream_gene_variant MELA-AU 4 146022608 146022608 single base substitution G T upstream_gene_variant MELA-AU 4 146022610 146022610 single base substitution A G upstream_gene_variant MELA-AU 4 146022936 146022936 single base substitution A G upstream_gene_variant MELA-AU 4 146023802 146023802 single base substitution G A upstream_gene_variant MELA-AU 4 146024524 146024524 single base substitution G A upstream_gene_variant ORCA-IN 4 145903674 145903674 single base substitution G C intron_variant ORCA-IN 4 145919822 145919822 single base substitution G C intron_variant ORCA-IN 4 145932690 145932690 single base substitution G A intron_variant ORCA-IN 4 145933427 145933427 single base substitution T G intron_variant ORCA-IN 4 145969610 145969610 single base substitution C G intron_variant ORCA-IN 4 146000216 146000216 single base substitution C A downstream_gene_variant ORCA-IN 4 146000216 146000216 single base substitution C A intron_variant ORCA-IN 4 146019489 146019489 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant ORCA-IN 4 146019489 146019489 single base substitution G C upstream_gene_variant OV-AU 4 145884477 145884477 single base substitution G A downstream_gene_variant OV-AU 4 145896766 145896766 single base substitution C A intron_variant OV-AU 4 145896910 145896910 single base substitution A C intron_variant OV-AU 4 145905409 145905409 single base substitution T C intron_variant OV-AU 4 145910413 145910413 single base substitution C G intron_variant OV-AU 4 145915445 145915445 single base substitution G C downstream_gene_variant OV-AU 4 145915445 145915445 single base substitution G C intron_variant OV-AU 4 145917207 145917207 single base substitution G C intron_variant OV-AU 4 145927991 145927991 single base substitution T A intron_variant OV-AU 4 145936193 145936193 single base substitution C T intron_variant OV-AU 4 145938321 145938321 single base substitution T C intron_variant OV-AU 4 145941423 145941423 single base substitution T G intron_variant OV-AU 4 145955693 145955693 single base substitution A G intron_variant OV-AU 4 145957990 145957990 single base substitution A T intron_variant OV-AU 4 145975573 145975573 single base substitution G A intron_variant OV-AU 4 145980611 145980611 single base substitution A G downstream_gene_variant OV-AU 4 145980611 145980611 single base substitution A G intron_variant OV-AU 4 145982124 145982124 single base substitution C T downstream_gene_variant OV-AU 4 145982124 145982124 single base substitution C T intron_variant OV-AU 4 145984211 145984211 single base substitution T G downstream_gene_variant OV-AU 4 145984211 145984211 single base substitution T G intron_variant OV-AU 4 145987032 145987032 single base substitution C T intron_variant OV-AU 4 145988266 145988266 single base substitution G T intron_variant OV-AU 4 145989156 145989156 single base substitution C A intron_variant OV-AU 4 145990057 145990057 single base substitution T C intron_variant OV-AU 4 145995126 145995126 single base substitution C A intron_variant OV-AU 4 146008616 146008616 single base substitution G T intron_variant OV-AU 4 146011497 146011497 single base substitution C A intron_variant PACA-AU 4 145885656 145885665 deletion of <=200bp AATGAAAGAC - downstream_gene_variant PACA-AU 4 145887369 145887369 single base substitution T A downstream_gene_variant PACA-AU 4 145895848 145895848 single base substitution A G intron_variant PACA-AU 4 145897858 145897858 single base substitution A G intron_variant PACA-AU 4 145914000 145914006 deletion of <=200bp ACATGCT - downstream_gene_variant PACA-AU 4 145914000 145914006 deletion of <=200bp ACATGCT - intron_variant PACA-AU 4 145914869 145914869 single base substitution A C downstream_gene_variant PACA-AU 4 145914869 145914869 single base substitution A C intron_variant PACA-AU 4 145915211 145915211 single base substitution C A downstream_gene_variant PACA-AU 4 145915211 145915211 single base substitution C A intron_variant PACA-AU 4 145915212 145915212 single base substitution C A downstream_gene_variant PACA-AU 4 145915212 145915212 single base substitution C A intron_variant PACA-AU 4 145920481 145920481 single base substitution A G intron_variant PACA-AU 4 145925681 145925681 single base substitution T A intron_variant PACA-AU 4 145935070 145935070 single base substitution G A intron_variant PACA-AU 4 145939278 145939278 single base substitution T A intron_variant PACA-AU 4 145943806 145943806 single base substitution A T intron_variant PACA-AU 4 145944215 145944215 single base substitution T C intron_variant PACA-AU 4 145955676 145955676 insertion of <=200bp - TA intron_variant PACA-AU 4 145956635 145956635 single base substitution C G intron_variant PACA-AU 4 145958239 145958239 single base substitution G T intron_variant PACA-AU 4 145958283 145958283 single base substitution A G intron_variant PACA-AU 4 145964113 145964113 single base substitution C T intron_variant PACA-AU 4 145964318 145964318 single base substitution G C intron_variant PACA-AU 4 145980060 145980060 single base substitution A C intron_variant PACA-AU 4 145983219 145983219 single base substitution A G downstream_gene_variant PACA-AU 4 145983219 145983219 single base substitution A G intron_variant PACA-AU 4 145985861 145985861 insertion of <=200bp - A intron_variant PACA-AU 4 145991240 145991240 single base substitution A T intron_variant PACA-AU 4 145994232 145994232 single base substitution G A intron_variant PACA-AU 4 145995407 145995407 single base substitution C T intron_variant PACA-AU 4 145998177 145998177 single base substitution C T downstream_gene_variant PACA-AU 4 145998177 145998177 single base substitution C T intron_variant PACA-AU 4 145999843 145999843 single base substitution G A downstream_gene_variant PACA-AU 4 145999843 145999843 single base substitution G A intron_variant PACA-AU 4 146003800 146003800 single base substitution G C intron_variant PACA-AU 4 146009336 146009336 single base substitution G C intron_variant PACA-AU 4 146010794 146010794 single base substitution T A intron_variant PACA-AU 4 146011841 146011841 single base substitution C T intron_variant PACA-AU 4 146014463 146014463 single base substitution C G intron_variant PACA-AU 4 146016840 146016840 single base substitution G A intron_variant PACA-AU 4 146022880 146022880 single base substitution G C upstream_gene_variant PACA-AU 4 146023137 146023137 single base substitution A G upstream_gene_variant PACA-CA 4 145883653 145883653 single base substitution G A downstream_gene_variant PACA-CA 4 145886891 145886891 single base substitution T C downstream_gene_variant PACA-CA 4 145890033 145890033 single base substitution T G intron_variant PACA-CA 4 145894508 145894508 single base substitution C T intron_variant PACA-CA 4 145899743 145899743 single base substitution T A intron_variant PACA-CA 4 145899809 145899809 single base substitution A C intron_variant PACA-CA 4 145900754 145900754 single base substitution A T intron_variant PACA-CA 4 145901364 145901375 deletion of <=200bp CTAATTTACACT - intron_variant PACA-CA 4 145910587 145910587 single base substitution C A intron_variant PACA-CA 4 145911598 145911599 deletion of <=200bp AA - downstream_gene_variant PACA-CA 4 145911598 145911599 deletion of <=200bp AA - intron_variant PACA-CA 4 145912196 145912196 single base substitution G A downstream_gene_variant PACA-CA 4 145912196 145912196 single base substitution G A intron_variant PACA-CA 4 145918138 145918138 single base substitution C G intron_variant PACA-CA 4 145920067 145920067 insertion of <=200bp - A intron_variant PACA-CA 4 145920396 145920396 single base substitution G T intron_variant PACA-CA 4 145921359 145921359 single base substitution C G intron_variant PACA-CA 4 145924782 145924782 single base substitution C T intron_variant PACA-CA 4 145926462 145926462 single base substitution G A intron_variant PACA-CA 4 145936366 145936366 single base substitution A G intron_variant PACA-CA 4 145937020 145937020 single base substitution T A intron_variant PACA-CA 4 145937021 145937021 single base substitution T G intron_variant PACA-CA 4 145939422 145939422 single base substitution C A intron_variant PACA-CA 4 145939557 145939557 single base substitution G A intron_variant PACA-CA 4 145942169 145942169 single base substitution T C intron_variant PACA-CA 4 145942899 145942899 single base substitution G A intron_variant PACA-CA 4 145952850 145952850 single base substitution T C downstream_gene_variant PACA-CA 4 145952850 145952850 single base substitution T C intron_variant PACA-CA 4 145952931 145952931 single base substitution C G downstream_gene_variant PACA-CA 4 145952931 145952931 single base substitution C G intron_variant PACA-CA 4 145954427 145954427 single base substitution C G exon_variant PACA-CA 4 145954427 145954427 single base substitution C G intron_variant PACA-CA 4 145954613 145954613 deletion of <=200bp A - intron_variant PACA-CA 4 145955725 145955725 single base substitution G A intron_variant PACA-CA 4 145955729 145955729 single base substitution A G intron_variant PACA-CA 4 145957674 145957674 deletion of <=200bp T - intron_variant PACA-CA 4 145962075 145962075 single base substitution T C intron_variant PACA-CA 4 145964956 145964956 single base substitution G T intron_variant PACA-CA 4 145971139 145971139 single base substitution G T downstream_gene_variant PACA-CA 4 145971139 145971139 single base substitution G T intron_variant PACA-CA 4 145973823 145973823 single base substitution G T downstream_gene_variant PACA-CA 4 145973823 145973823 single base substitution G T intron_variant PACA-CA 4 145973965 145973965 single base substitution G T downstream_gene_variant PACA-CA 4 145973965 145973965 single base substitution G T intron_variant PACA-CA 4 145974440 145974440 single base substitution G A downstream_gene_variant PACA-CA 4 145974440 145974440 single base substitution G A intron_variant PACA-CA 4 145976995 145976995 single base substitution C T intron_variant PACA-CA 4 145978425 145978425 single base substitution A G intron_variant PACA-CA 4 145978742 145978742 single base substitution G T intron_variant PACA-CA 4 145979375 145979375 single base substitution C T intron_variant PACA-CA 4 145981933 145981933 single base substitution A C downstream_gene_variant PACA-CA 4 145981933 145981933 single base substitution A C intron_variant PACA-CA 4 145983053 145983053 single base substitution A G downstream_gene_variant PACA-CA 4 145983053 145983053 single base substitution A G intron_variant PACA-CA 4 145984323 145984323 single base substitution C A downstream_gene_variant PACA-CA 4 145984323 145984323 single base substitution C A intron_variant PACA-CA 4 145986572 145986572 single base substitution A C intron_variant PACA-CA 4 145987926 145987926 insertion of <=200bp - T intron_variant PACA-CA 4 145991022 145991022 deletion of <=200bp A - intron_variant PACA-CA 4 145993726 145993726 single base substitution G T intron_variant PACA-CA 4 145996523 145996523 single base substitution A G intron_variant PACA-CA 4 145997141 145997141 single base substitution G C intron_variant PACA-CA 4 146003593 146003593 single base substitution G A intron_variant PACA-CA 4 146005765 146005765 single base substitution G C intron_variant PACA-CA 4 146007516 146007516 single base substitution C A intron_variant PACA-CA 4 146010808 146010808 single base substitution T C intron_variant PACA-CA 4 146012517 146012517 single base substitution T C intron_variant PACA-CA 4 146017503 146017503 single base substitution A T intron_variant PACA-CA 4 146018924 146018924 single base substitution T C exon_variant PACA-CA 4 146018924 146018924 single base substitution T C intron_variant PACA-CA 4 146018924 146018924 single base substitution T C upstream_gene_variant PACA-CA 4 146022608 146022608 single base substitution G T upstream_gene_variant PACA-CA 4 146023143 146023143 deletion of <=200bp C - upstream_gene_variant PAEN-AU 4 145905322 145905322 single base substitution G A intron_variant PAEN-AU 4 145938508 145938508 single base substitution G A intron_variant PAEN-AU 4 145945719 145945719 single base substitution G C intron_variant PAEN-AU 4 145962236 145962236 single base substitution C G intron_variant PAEN-AU 4 145979908 145979908 single base substitution A G intron_variant PAEN-IT 4 145888398 145888398 single base substitution G T intron_variant PAEN-IT 4 145889803 145889803 single base substitution G T intron_variant PAEN-IT 4 145890566 145890566 single base substitution C T intron_variant PAEN-IT 4 145938957 145938957 single base substitution C A intron_variant PAEN-IT 4 145990626 145990626 single base substitution G T intron_variant PAEN-IT 4 145999896 145999896 single base substitution T C downstream_gene_variant PAEN-IT 4 145999896 145999896 single base substitution T C intron_variant PAEN-IT 4 146007079 146007079 single base substitution G A intron_variant PAEN-IT 4 146016603 146016603 single base substitution G A intron_variant PBCA-DE 4 145915775 145915775 single base substitution C T downstream_gene_variant PBCA-DE 4 145915775 145915775 single base substitution C T intron_variant PBCA-DE 4 145915867 145915867 single base substitution C T downstream_gene_variant PBCA-DE 4 145915867 145915867 single base substitution C T intron_variant PBCA-DE 4 145919309 145919309 single base substitution C T intron_variant PBCA-DE 4 145925463 145925463 single base substitution C A intron_variant PBCA-DE 4 145945505 145945505 single base substitution A C intron_variant PBCA-DE 4 145955676 145955677 deletion of <=200bp TA - intron_variant PBCA-DE 4 145960923 145960923 single base substitution T C intron_variant PBCA-DE 4 145968284 145968284 insertion of <=200bp - A intron_variant PBCA-DE 4 145975540 145975540 deletion of <=200bp A - intron_variant PBCA-DE 4 145977691 145977691 single base substitution T C intron_variant PBCA-DE 4 145994028 145994028 single base substitution G A intron_variant PBCA-DE 4 146020398 146020398 single base substitution T A upstream_gene_variant PRAD-CA 4 145920049 145920049 single base substitution A C intron_variant PRAD-CA 4 145932979 145932979 single base substitution A G intron_variant PRAD-CA 4 145933328 145933328 single base substitution G A intron_variant PRAD-CA 4 145948617 145948617 single base substitution A G intron_variant PRAD-CA 4 145953689 145953689 single base substitution C T downstream_gene_variant PRAD-CA 4 145953689 145953689 single base substitution C T intron_variant PRAD-CA 4 145955699 145955699 single base substitution G A intron_variant PRAD-CA 4 145971968 145971968 single base substitution A C downstream_gene_variant PRAD-CA 4 145971968 145971968 single base substitution A C intron_variant PRAD-CA 4 145975794 145975794 single base substitution C T intron_variant PRAD-CA 4 145991198 145991198 single base substitution G A intron_variant PRAD-CA 4 145995968 145995968 single base substitution C T intron_variant PRAD-UK 4 145896025 145896025 single base substitution C A intron_variant PRAD-UK 4 145915084 145915084 single base substitution A T downstream_gene_variant PRAD-UK 4 145915084 145915084 single base substitution A T intron_variant PRAD-UK 4 145925006 145925006 single base substitution C T intron_variant PRAD-UK 4 145925172 145925172 insertion of <=200bp - T intron_variant PRAD-UK 4 145935700 145935700 deletion of <=200bp G - intron_variant PRAD-UK 4 145944743 145944743 single base substitution C A intron_variant PRAD-UK 4 145948349 145948349 single base substitution T G intron_variant PRAD-UK 4 145959428 145959428 single base substitution G T intron_variant PRAD-UK 4 145987252 145987252 single base substitution A T intron_variant PRAD-UK 4 145988426 145988426 single base substitution A G intron_variant PRAD-UK 4 146013011 146013011 single base substitution G C intron_variant PRAD-UK 4 146014313 146014313 single base substitution C T intron_variant PRAD-UK 4 146024398 146024398 insertion of <=200bp - A upstream_gene_variant READ-US 4 146017252 146017252 single base substitution T G 5_prime_UTR_variant READ-US 4 146017252 146017252 single base substitution T G exon_variant READ-US 4 146017252 146017252 single base substitution T G intron_variant RECA-EU 4 145891374 145891374 single base substitution C A intron_variant RECA-EU 4 145894196 145894196 single base substitution T A intron_variant RECA-EU 4 145897760 145897760 single base substitution G A intron_variant RECA-EU 4 145898472 145898472 single base substitution T C intron_variant RECA-EU 4 145904256 145904256 single base substitution G T intron_variant RECA-EU 4 145909783 145909783 single base substitution T A intron_variant RECA-EU 4 145924389 145924389 single base substitution T A intron_variant RECA-EU 4 145927357 145927357 single base substitution A G intron_variant RECA-EU 4 145935343 145935343 single base substitution C T intron_variant RECA-EU 4 145944023 145944023 single base substitution T C intron_variant RECA-EU 4 145953245 145953245 single base substitution C A downstream_gene_variant RECA-EU 4 145953245 145953245 single base substitution C A intron_variant RECA-EU 4 145953246 145953246 single base substitution C A downstream_gene_variant RECA-EU 4 145953246 145953246 single base substitution C A intron_variant RECA-EU 4 145964757 145964757 single base substitution A C intron_variant RECA-EU 4 145973165 145973165 single base substitution A G downstream_gene_variant RECA-EU 4 145973165 145973165 single base substitution A G intron_variant RECA-EU 4 145979057 145979057 single base substitution T C intron_variant RECA-EU 4 145992427 145992427 single base substitution G T intron_variant RECA-EU 4 145997291 145997291 single base substitution C A intron_variant RECA-EU 4 145997292 145997292 single base substitution C G intron_variant SKCA-BR 4 145884141 145884141 single base substitution A T downstream_gene_variant SKCA-BR 4 145884276 145884276 single base substitution A T downstream_gene_variant SKCA-BR 4 145886100 145886100 single base substitution G A downstream_gene_variant SKCA-BR 4 145887350 145887350 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 4 145887456 145887456 single base substitution G A downstream_gene_variant SKCA-BR 4 145889413 145889413 single base substitution G A intron_variant SKCA-BR 4 145893977 145893977 single base substitution C T intron_variant SKCA-BR 4 145894476 145894476 single base substitution G A intron_variant SKCA-BR 4 145895443 145895443 single base substitution G A intron_variant SKCA-BR 4 145896891 145896891 single base substitution A C intron_variant SKCA-BR 4 145900579 145900579 single base substitution G A intron_variant SKCA-BR 4 145901301 145901301 single base substitution G A intron_variant SKCA-BR 4 145901690 145901690 single base substitution A C intron_variant SKCA-BR 4 145908895 145908895 single base substitution G A intron_variant SKCA-BR 4 145909218 145909218 single base substitution C T intron_variant SKCA-BR 4 145911656 145911656 single base substitution C T downstream_gene_variant SKCA-BR 4 145911656 145911656 single base substitution C T intron_variant SKCA-BR 4 145912523 145912523 single base substitution G A downstream_gene_variant SKCA-BR 4 145912523 145912523 single base substitution G A intron_variant SKCA-BR 4 145912832 145912832 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 4 145912832 145912832 insertion of <=200bp - AT intron_variant SKCA-BR 4 145914179 145914179 single base substitution G A downstream_gene_variant SKCA-BR 4 145914179 145914179 single base substitution G A intron_variant SKCA-BR 4 145919157 145919157 single base substitution G A intron_variant SKCA-BR 4 145922135 145922135 single base substitution G A intron_variant SKCA-BR 4 145924132 145924132 single base substitution A C intron_variant SKCA-BR 4 145924153 145924153 single base substitution T C intron_variant SKCA-BR 4 145924157 145924157 single base substitution A C intron_variant SKCA-BR 4 145924175 145924175 single base substitution A C intron_variant SKCA-BR 4 145927817 145927817 single base substitution C T intron_variant SKCA-BR 4 145928316 145928316 single base substitution G A intron_variant SKCA-BR 4 145928841 145928841 single base substitution G A intron_variant SKCA-BR 4 145929006 145929006 insertion of <=200bp - CA intron_variant SKCA-BR 4 145930370 145930370 single base substitution G A intron_variant SKCA-BR 4 145933326 145933326 insertion of <=200bp - GTA intron_variant SKCA-BR 4 145935277 145935277 single base substitution G A intron_variant SKCA-BR 4 145939274 145939274 insertion of <=200bp - AATAT intron_variant SKCA-BR 4 145943518 145943518 single base substitution G A intron_variant SKCA-BR 4 145945805 145945805 single base substitution A G intron_variant SKCA-BR 4 145946110 145946110 single base substitution C T intron_variant SKCA-BR 4 145946324 145946324 single base substitution T G intron_variant SKCA-BR 4 145948080 145948080 single base substitution T C intron_variant SKCA-BR 4 145948097 145948097 insertion of <=200bp - ATATATATATG intron_variant SKCA-BR 4 145948141 145948141 single base substitution T A intron_variant SKCA-BR 4 145948485 145948485 single base substitution T C intron_variant SKCA-BR 4 145950757 145950757 single base substitution G A downstream_gene_variant SKCA-BR 4 145950757 145950757 single base substitution G A intron_variant SKCA-BR 4 145951579 145951579 single base substitution G A downstream_gene_variant SKCA-BR 4 145951579 145951579 single base substitution G A intron_variant SKCA-BR 4 145951965 145951965 single base substitution G A downstream_gene_variant SKCA-BR 4 145951965 145951965 single base substitution G A intron_variant SKCA-BR 4 145952854 145952854 single base substitution G A downstream_gene_variant SKCA-BR 4 145952854 145952854 single base substitution G A intron_variant SKCA-BR 4 145955675 145955675 insertion of <=200bp - TTA intron_variant SKCA-BR 4 145955675 145955675 insertion of <=200bp - TTATATATATATATA intron_variant SKCA-BR 4 145955695 145955699 deletion of <=200bp ATGTG - intron_variant SKCA-BR 4 145957535 145957535 single base substitution G A intron_variant SKCA-BR 4 145958182 145958192 deletion of <=200bp GTGTGTGTGTA - intron_variant SKCA-BR 4 145958976 145958981 deletion of <=200bp GTAGTC - intron_variant SKCA-BR 4 145965869 145965869 single base substitution C G intron_variant SKCA-BR 4 145967806 145967806 single base substitution A G intron_variant SKCA-BR 4 145979204 145979204 single base substitution G A intron_variant SKCA-BR 4 145980524 145980524 single base substitution G A downstream_gene_variant SKCA-BR 4 145980524 145980524 single base substitution G A intron_variant SKCA-BR 4 145980790 145980790 single base substitution A T downstream_gene_variant SKCA-BR 4 145980790 145980790 single base substitution A T intron_variant SKCA-BR 4 145981580 145981580 single base substitution G A downstream_gene_variant SKCA-BR 4 145981580 145981580 single base substitution G A intron_variant SKCA-BR 4 145981803 145981803 single base substitution G A downstream_gene_variant SKCA-BR 4 145981803 145981803 single base substitution G A intron_variant SKCA-BR 4 145990160 145990160 single base substitution G T intron_variant SKCA-BR 4 145990586 145990586 single base substitution G A intron_variant SKCA-BR 4 145991511 145991511 single base substitution G A intron_variant SKCA-BR 4 145996896 145996896 single base substitution A C intron_variant SKCA-BR 4 145997082 145997082 single base substitution A C intron_variant SKCA-BR 4 145997156 145997156 single base substitution G A intron_variant SKCA-BR 4 145999332 145999332 single base substitution G A downstream_gene_variant SKCA-BR 4 145999332 145999332 single base substitution G A intron_variant SKCA-BR 4 145999424 145999424 single base substitution A C downstream_gene_variant SKCA-BR 4 145999424 145999424 single base substitution A C intron_variant SKCA-BR 4 146001600 146001600 single base substitution G A downstream_gene_variant SKCA-BR 4 146001600 146001600 single base substitution G A intron_variant SKCA-BR 4 146002357 146002357 single base substitution A T downstream_gene_variant SKCA-BR 4 146002357 146002357 single base substitution A T intron_variant SKCA-BR 4 146002817 146002817 single base substitution T C exon_variant SKCA-BR 4 146002817 146002817 single base substitution T C synonymous_variant Q67Q 201A>G SKCA-BR 4 146004604 146004604 single base substitution G A intron_variant SKCA-BR 4 146007040 146007040 single base substitution G A intron_variant SKCA-BR 4 146008026 146008026 single base substitution G A intron_variant SKCA-BR 4 146010319 146010319 single base substitution T C intron_variant SKCA-BR 4 146012990 146012990 single base substitution T C intron_variant SKCA-BR 4 146015100 146015100 single base substitution C A intron_variant SKCA-BR 4 146017944 146017944 single base substitution C T intron_variant SKCA-BR 4 146019386 146019386 single base substitution A C splice_donor_variant SKCA-BR 4 146019386 146019386 single base substitution A C upstream_gene_variant SKCM-US 4 145985797 145985797 single base substitution G A exon_variant SKCM-US 4 145985797 145985797 single base substitution G A intron_variant SKCM-US 4 145985797 145985797 single base substitution G A missense_variant S85F 254C>T SKCM-US 4 146017176 146017176 single base substitution C A exon_variant SKCM-US 4 146017176 146017176 single base substitution C A intron_variant SKCM-US 4 146017176 146017176 single base substitution C A missense_variant G26W 76G>T STAD-US 4 145916541 145916541 single base substitution T A downstream_gene_variant STAD-US 4 145916541 145916541 single base substitution T A exon_variant STAD-US 4 145916541 145916541 single base substitution T A intron_variant STAD-US 4 145916541 145916541 single base substitution T A missense_variant Y181F 542A>T STAD-US 4 145916685 145916685 single base substitution C T exon_variant STAD-US 4 145916685 145916685 single base substitution C T intron_variant STAD-US 4 145916685 145916685 single base substitution C T missense_variant R133H 398G>A STAD-US 4 145916687 145916687 single base substitution A G exon_variant STAD-US 4 145916687 145916687 single base substitution A G intron_variant STAD-US 4 145916687 145916687 single base substitution A G synonymous_variant T132T 396T>C UCEC-US 4 145916538 145916538 single base substitution C T downstream_gene_variant UCEC-US 4 145916538 145916538 single base substitution C T exon_variant UCEC-US 4 145916538 145916538 single base substitution C T intron_variant UCEC-US 4 145916538 145916538 single base substitution C T missense_variant R182H 545G>A UCEC-US 4 145916699 145916699 single base substitution A G exon_variant UCEC-US 4 145916699 145916699 single base substitution A G intron_variant UCEC-US 4 145916699 145916699 single base substitution A G synonymous_variant H128H 384T>C UCEC-US 4 146017264 146017264 single base substitution C A intron_variant UCEC-US 4 146017264 146017264 single base substitution C A splice_acceptor_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-A010-01 COSM278811 c.511C>A p.P171T Substitution - Missense 4:144995420-144995420 - HCC120T COSM3660910 c.147T>C p.N49N Substitution - coding silent 4:145081719-145081719 - I2L-P19Tb-Tumor-Organoid COSM5355970 c.302A>G p.N101S Substitution - Missense 4:145064597-145064597 - TCGA-D1-A174-01 COSM1051698 c.544C>T p.R182C Substitution - Missense 4:144995387-144995387 - PD4978a COSM5785197 c.173G>A p.G58D Substitution - Missense 4:145081693-145081693 - Pat_63_B COSM5865820 c.112C>T p.P38S Substitution - Missense 4:145095988-145095988 - 389 COSM4427714 c.136C>T p.R46* Substitution - Nonsense 4:145081730-145081730 - TCGA-B5-A11E-01 COSM1051696 c.545G>A p.R182H Substitution - Missense 4:144995386-144995386 - sysucc-1150T COSM5452557 c.382C>T p.H128Y Substitution - Missense 4:144995549-144995549 - TCGA-C8-A274-01 COSM1485707 c.220G>A p.V74M Substitution - Missense 4:145064679-145064679 - pfg144T COSM4762368 c.459G>A p.M153I Substitution - Missense 4:144995472-144995472 - TCGA-BF-A1Q0-01 COSM3600627 c.76G>T p.G26W Substitution - Missense 4:145096024-145096024 - S02279 COSM5683768 c.411A>G p.I137M Substitution - Missense 4:144995520-144995520 - CHC1775T COSM4800902 c.320A>T p.E107V Substitution - Missense 4:145064579-145064579 - TCGA-D3-A3MV-06 COSM3600626 c.254C>T p.S85F Substitution - Missense 4:145064645-145064645 - ESO-887 COSM1244923 c.67C>T p.R23W Substitution - Missense 4:145096033-145096033 - TCGA-B5-A11E-01 COSM1051700 c.384T>C p.H128H Substitution - coding silent 4:144995547-144995547 - TCGA-AT-A5NU-01 COSM4414108 c.534C>A p.F178L Substitution - Missense 4:144995397-144995397 - TCGA-AA-A010-01 COSM278812 c.442G>A p.G148R Substitution - Missense 4:144995489-144995489 - HCC52 COSM1618443 c.198C>T p.I66I Substitution - coding silent 4:145081668-145081668 - HCC52T COSM1618443 c.198C>T p.I66I Substitution - coding silent 4:145081668-145081668 - PD11336a COSM5766983 c.534C>T p.F178F Substitution - coding silent 4:144995397-144995397 - cSCCP6 COSM136444 c.307C>T p.H103Y Substitution - Missense 4:145064592-145064592 - CHC1775T COSM4800902 c.320A>T p.E107V Substitution - Missense 4:145064579-145064579 - TCGA-D5-6927-01 COSM1427343 c.267T>C p.Y89Y Substitution - coding silent 4:145064632-145064632 - HRA19 COSM4637945 c.309C>T p.H103H Substitution - coding silent 4:145064590-145064590 - TCGA-BR-8487-01 COSM4122531 c.542A>T p.Y181F Substitution - Missense 4:144995389-144995389 - TCGA-BR-7851-01 COSM4122532 c.398G>A p.R133H Substitution - Missense 4:144995533-144995533 - KM12 COSM3126616 c.1A>G p.M1V Substitution - Missense 4:145096099-145096099 - I2L-P19Tb-Tumor-Biopsy COSM5355970 c.302A>G p.N101S Substitution - Missense 4:145064597-145064597 - TCGA-CG-4442-01 COSM4122533 c.396T>C p.T132T Substitution - coding silent 4:144995535-144995535 - T96 COSM4661480 c.68G>A p.R23Q Substitution - Missense 4:145096032-145096032 - HCC120 COSM3660910 c.147T>C p.N49N Substitution - coding silent 4:145081719-145081719 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.480871;Hs.480876 4q31 613745

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T Missense p.V74M c.220G>A 4 145985831 BRCA G A IntronicSNV . c.115+2497C>T 4 146014640 CLL G A IntronicSNV . c.115+74C>T 4 146017063 PIA G A Missense p.S85F c.254C>T 4 145985797 CM T C 5-UTRSNV . c.1-11A>G 4 146017262 HC T C 5-UTRSNV . c.1-1A>G 4 146017252 STAD