Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 7 30395343 30395343 + Splice_Site SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr7:30395343G>A c.e3-1 BRCA 7 30363299 30363299 + Missense_Mutation SNP G G A TCGA-A2-A0CX-01A-21W-A019-09 TCGA-A2-A0CX-10A-01W-A021-09 g.chr7:30363299G>A c.511G>A c.(511-513)Gaa>Aaa p.E171K CESC 7 30402033 30402033 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr7:30402033G>C c.712G>C c.(712-714)Gag>Cag p.E238Q GBMLGG 7 30325442 30325442 + Splice_Site DEL G G - TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 g.chr7:30325442delG c.469delG c.(469-471)gga>ga p.G157fs GBMLGG 7 30363339 30363339 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:30363339G>A c.551G>A c.(550-552)cGa>cAa p.R184Q LGG 7 30325442 30325442 + Splice_Site DEL G G - TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 g.chr7:30325442delG c.469delG c.(469-471)gga>ga p.G157fs LGG 7 30363339 30363339 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:30363339G>A c.551G>A c.(550-552)cGa>cAa p.R184Q LUSC 7 30363339 30363339 + Missense_Mutation SNP G G T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr7:30363339G>T c.551G>T c.(550-552)cGa>cTa p.R184L LUSC 7 30402003 30402003 + Missense_Mutation SNP G G C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr7:30402003G>C c.682G>C c.(682-684)Gaa>Caa p.E228Q PRAD 7 30395399 30395399 + Silent SNP G G A TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 g.chr7:30395399G>A c.621G>A c.(619-621)caG>caA p.Q207Q PRAD 7 30402036 30402036 + Missense_Mutation SNP C C A TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 g.chr7:30402036C>A c.715C>A c.(715-717)Cac>Aac p.H239N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 7 30320836 30320836 single base substitution G T upstream_gene_variant BRCA-EU 7 30321174 30321174 deletion of <=200bp C - upstream_gene_variant BRCA-EU 7 30321709 30321709 single base substitution C T upstream_gene_variant BRCA-EU 7 30321918 30321918 single base substitution C G upstream_gene_variant BRCA-EU 7 30322160 30322160 single base substitution C T upstream_gene_variant BRCA-EU 7 30323269 30323269 single base substitution G A upstream_gene_variant BRCA-EU 7 30324407 30324407 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 7 30324407 30324407 single base substitution C G upstream_gene_variant BRCA-EU 7 30325222 30325222 single base substitution C T exon_variant BRCA-EU 7 30325222 30325222 single base substitution C T synonymous_variant L83L 249C>T BRCA-EU 7 30325840 30325842 deletion of <=200bp GGG - intron_variant BRCA-EU 7 30327988 30327988 single base substitution T A intron_variant BRCA-EU 7 30328260 30328260 single base substitution G C intron_variant BRCA-EU 7 30329246 30329246 single base substitution C G downstream_gene_variant BRCA-EU 7 30329246 30329246 single base substitution C G intron_variant BRCA-EU 7 30329387 30329387 single base substitution C G downstream_gene_variant BRCA-EU 7 30329387 30329387 single base substitution C G intron_variant BRCA-EU 7 30330028 30330028 single base substitution T A downstream_gene_variant BRCA-EU 7 30330028 30330028 single base substitution T A intron_variant BRCA-EU 7 30330075 30330075 single base substitution T G downstream_gene_variant BRCA-EU 7 30330075 30330075 single base substitution T G intron_variant BRCA-EU 7 30331559 30331559 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 30331559 30331559 deletion of <=200bp T - intron_variant BRCA-EU 7 30331939 30331939 single base substitution C G downstream_gene_variant BRCA-EU 7 30331939 30331939 single base substitution C G intron_variant BRCA-EU 7 30332379 30332379 single base substitution G A downstream_gene_variant BRCA-EU 7 30332379 30332379 single base substitution G A intron_variant BRCA-EU 7 30333761 30333761 single base substitution T G intron_variant BRCA-EU 7 30338904 30338904 single base substitution G A intron_variant BRCA-EU 7 30339679 30339679 single base substitution C T intron_variant BRCA-EU 7 30339853 30339853 single base substitution C T intron_variant BRCA-EU 7 30340149 30340149 single base substitution C G intron_variant BRCA-EU 7 30342465 30342465 single base substitution G A intron_variant BRCA-EU 7 30343604 30343604 single base substitution G T intron_variant BRCA-EU 7 30344357 30344357 single base substitution C T intron_variant BRCA-EU 7 30344737 30344737 single base substitution G C intron_variant BRCA-EU 7 30345928 30345928 single base substitution C G intron_variant BRCA-EU 7 30346005 30346005 single base substitution T C intron_variant BRCA-EU 7 30346943 30346943 single base substitution T G intron_variant BRCA-EU 7 30349253 30349253 insertion of <=200bp - T intron_variant BRCA-EU 7 30351017 30351017 single base substitution G A intron_variant BRCA-EU 7 30351116 30351116 single base substitution T A intron_variant BRCA-EU 7 30351307 30351307 single base substitution A G intron_variant BRCA-EU 7 30354549 30354549 single base substitution C T intron_variant BRCA-EU 7 30355671 30355671 single base substitution A G intron_variant BRCA-EU 7 30356610 30356610 insertion of <=200bp - C intron_variant BRCA-EU 7 30358531 30358531 single base substitution G A intron_variant BRCA-EU 7 30358971 30358971 single base substitution A C intron_variant BRCA-EU 7 30360155 30360155 single base substitution G A intron_variant BRCA-EU 7 30360470 30360470 insertion of <=200bp - T intron_variant BRCA-EU 7 30360750 30360750 insertion of <=200bp - T intron_variant BRCA-EU 7 30361487 30361487 deletion of <=200bp T - intron_variant BRCA-EU 7 30361621 30361621 single base substitution G A intron_variant BRCA-EU 7 30364281 30364283 deletion of <=200bp CTC - intron_variant BRCA-EU 7 30364752 30364752 deletion of <=200bp A - intron_variant BRCA-EU 7 30365544 30365544 single base substitution T C intron_variant BRCA-EU 7 30365774 30365774 single base substitution G C intron_variant BRCA-EU 7 30366667 30366667 single base substitution G A intron_variant BRCA-EU 7 30368787 30368787 single base substitution A G intron_variant BRCA-EU 7 30369727 30369727 single base substitution C T intron_variant BRCA-EU 7 30371445 30371445 single base substitution T A intron_variant BRCA-EU 7 30371987 30371987 deletion of <=200bp A - intron_variant BRCA-EU 7 30372647 30372647 single base substitution C T intron_variant BRCA-EU 7 30374302 30374302 single base substitution C T intron_variant BRCA-EU 7 30376886 30376886 deletion of <=200bp T - intron_variant BRCA-EU 7 30377384 30377384 single base substitution C G intron_variant BRCA-EU 7 30378970 30378970 single base substitution C A intron_variant BRCA-EU 7 30379021 30379021 single base substitution T A intron_variant BRCA-EU 7 30379222 30379222 single base substitution C G intron_variant BRCA-EU 7 30379498 30379498 single base substitution C T intron_variant BRCA-EU 7 30380145 30380145 single base substitution G T intron_variant BRCA-EU 7 30380815 30380815 deletion of <=200bp T - intron_variant BRCA-EU 7 30381355 30381355 single base substitution C G intron_variant BRCA-EU 7 30382931 30382931 insertion of <=200bp - A intron_variant BRCA-EU 7 30383916 30383916 single base substitution C G intron_variant BRCA-EU 7 30384043 30384043 single base substitution T A intron_variant BRCA-EU 7 30384288 30384288 single base substitution C G intron_variant BRCA-EU 7 30384943 30384943 deletion of <=200bp T - intron_variant BRCA-EU 7 30384950 30384950 single base substitution T C intron_variant BRCA-EU 7 30385327 30385327 single base substitution G C intron_variant BRCA-EU 7 30385416 30385416 single base substitution G A intron_variant BRCA-EU 7 30385569 30385570 deletion of <=200bp TT - intron_variant BRCA-EU 7 30385758 30385758 deletion of <=200bp C - intron_variant BRCA-EU 7 30385994 30385994 single base substitution G C intron_variant BRCA-EU 7 30386677 30386691 deletion of <=200bp TCTTCCCTCATTTAT - intron_variant BRCA-EU 7 30388601 30388601 single base substitution C A intron_variant BRCA-EU 7 30390212 30390212 single base substitution C G intron_variant BRCA-EU 7 30390227 30390230 deletion of <=200bp TTAG - intron_variant BRCA-EU 7 30392718 30392718 single base substitution C G intron_variant BRCA-EU 7 30396679 30396679 single base substitution G T intron_variant BRCA-EU 7 30396862 30396862 single base substitution G C intron_variant BRCA-EU 7 30398702 30398702 single base substitution T C intron_variant BRCA-EU 7 30398702 30398702 single base substitution T C upstream_gene_variant BRCA-EU 7 30400573 30400573 single base substitution C A intron_variant BRCA-EU 7 30400573 30400573 single base substitution C A upstream_gene_variant BRCA-EU 7 30401384 30401384 single base substitution T A intron_variant BRCA-EU 7 30401384 30401384 single base substitution T A upstream_gene_variant BRCA-EU 7 30402123 30402123 single base substitution C T intron_variant BRCA-EU 7 30403878 30403878 single base substitution C G intron_variant BRCA-EU 7 30404167 30404167 single base substitution G T intron_variant BRCA-EU 7 30404300 30404300 single base substitution G A intron_variant BRCA-EU 7 30404494 30404494 single base substitution G A intron_variant BRCA-EU 7 30404538 30404538 single base substitution G A intron_variant BRCA-EU 7 30405001 30405001 single base substitution G C intron_variant BRCA-EU 7 30405709 30405709 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 30406455 30406455 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 30406455 30406455 single base substitution A G intron_variant BRCA-EU 7 30406974 30406974 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 7 30406974 30406974 deletion of <=200bp T - intron_variant BRCA-EU 7 30407165 30407165 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 30407165 30407165 single base substitution C G intron_variant BRCA-EU 7 30408219 30408219 single base substitution A T downstream_gene_variant BRCA-EU 7 30408219 30408219 single base substitution A T intron_variant BRCA-EU 7 30408478 30408478 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 30408478 30408478 deletion of <=200bp T - intron_variant BRCA-EU 7 30408485 30408485 single base substitution T C downstream_gene_variant BRCA-EU 7 30408485 30408485 single base substitution T C intron_variant BRCA-EU 7 30408658 30408686 deletion of <=200bp ATAACTTTTTTTGTGTTAGCAAAAACAAC - downstream_gene_variant BRCA-EU 7 30408658 30408686 deletion of <=200bp ATAACTTTTTTTGTGTTAGCAAAAACAAC - intron_variant BRCA-EU 7 30409026 30409026 single base substitution C T downstream_gene_variant BRCA-EU 7 30409026 30409026 single base substitution C T intron_variant BRCA-EU 7 30409922 30409922 single base substitution G A downstream_gene_variant BRCA-EU 7 30409922 30409922 single base substitution G A intron_variant BRCA-EU 7 30410141 30410141 single base substitution C T downstream_gene_variant BRCA-EU 7 30410141 30410141 single base substitution C T intron_variant BRCA-EU 7 30411018 30411018 single base substitution T A downstream_gene_variant BRCA-EU 7 30411018 30411018 single base substitution T A intron_variant BRCA-EU 7 30411235 30411235 single base substitution A G downstream_gene_variant BRCA-EU 7 30411235 30411235 single base substitution A G intron_variant BRCA-EU 7 30413116 30413116 single base substitution T G intron_variant BRCA-EU 7 30413680 30413680 single base substitution G C intron_variant BRCA-EU 7 30414110 30414110 single base substitution G T intron_variant BRCA-EU 7 30415121 30415121 single base substitution G C intron_variant BRCA-EU 7 30415253 30415253 deletion of <=200bp T - intron_variant BRCA-EU 7 30417016 30417016 single base substitution C T intron_variant BRCA-EU 7 30417061 30417061 single base substitution G C intron_variant BRCA-EU 7 30417168 30417168 single base substitution T A intron_variant BRCA-EU 7 30418376 30418376 single base substitution A G intron_variant BRCA-EU 7 30418381 30418381 single base substitution C A intron_variant BRCA-EU 7 30419265 30419265 single base substitution A C intron_variant BRCA-EU 7 30419628 30419628 single base substitution A C intron_variant BRCA-EU 7 30419863 30419863 single base substitution C G intron_variant BRCA-EU 7 30420519 30420519 single base substitution C A intron_variant BRCA-EU 7 30421274 30421274 single base substitution C A intron_variant BRCA-EU 7 30422058 30422058 single base substitution C T intron_variant BRCA-EU 7 30423086 30423086 single base substitution C T intron_variant BRCA-EU 7 30424887 30424887 single base substitution G A intron_variant BRCA-EU 7 30427843 30427843 single base substitution G C intron_variant BRCA-EU 7 30427843 30427843 single base substitution G C upstream_gene_variant BRCA-EU 7 30428852 30428852 insertion of <=200bp - C intron_variant BRCA-EU 7 30428852 30428852 insertion of <=200bp - C upstream_gene_variant BRCA-EU 7 30432960 30432960 single base substitution C G intron_variant BRCA-EU 7 30433145 30433145 single base substitution G A intron_variant BRCA-EU 7 30433441 30433443 deletion of <=200bp TTC - intron_variant BRCA-EU 7 30433850 30433850 single base substitution C A intron_variant BRCA-EU 7 30433928 30433928 single base substitution T G intron_variant BRCA-EU 7 30434433 30434433 single base substitution C G intron_variant BRCA-EU 7 30435340 30435340 single base substitution G C intron_variant BRCA-EU 7 30435426 30435426 single base substitution T G intron_variant BRCA-EU 7 30436060 30436060 single base substitution G A intron_variant BRCA-EU 7 30436164 30436164 single base substitution G C intron_variant BRCA-EU 7 30436199 30436199 single base substitution T G intron_variant BRCA-EU 7 30436346 30436346 single base substitution G C intron_variant BRCA-EU 7 30436720 30436720 single base substitution A T intron_variant BRCA-EU 7 30437134 30437134 single base substitution G C intron_variant BRCA-EU 7 30437402 30437402 single base substitution C A intron_variant BRCA-EU 7 30438796 30438796 single base substitution C T intron_variant BRCA-EU 7 30439125 30439125 single base substitution T G intron_variant BRCA-EU 7 30441931 30441931 single base substitution C G intron_variant BRCA-EU 7 30442274 30442274 deletion of <=200bp T - intron_variant BRCA-EU 7 30442428 30442428 single base substitution T G intron_variant BRCA-EU 7 30442958 30442958 single base substitution T A intron_variant BRCA-EU 7 30445156 30445156 single base substitution A G intron_variant BRCA-EU 7 30447500 30447500 single base substitution A G intron_variant BRCA-EU 7 30448275 30448275 single base substitution C T intron_variant BRCA-EU 7 30449492 30449492 single base substitution G A intron_variant BRCA-EU 7 30449695 30449695 single base substitution G T intron_variant BRCA-EU 7 30450385 30450385 single base substitution G C intron_variant BRCA-EU 7 30451632 30451632 single base substitution G T 3_prime_UTR_variant BRCA-EU 7 30451632 30451632 single base substitution G T intron_variant BRCA-EU 7 30452049 30452049 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 30452049 30452049 single base substitution G C downstream_gene_variant BRCA-EU 7 30452953 30452953 single base substitution G A downstream_gene_variant BRCA-EU 7 30453842 30453842 single base substitution C T downstream_gene_variant BRCA-FR 7 30321947 30321947 single base substitution T A upstream_gene_variant BRCA-FR 7 30331939 30331939 single base substitution C G downstream_gene_variant BRCA-FR 7 30331939 30331939 single base substitution C G intron_variant BRCA-FR 7 30340149 30340149 single base substitution C G intron_variant BRCA-FR 7 30342663 30342663 single base substitution G T intron_variant BRCA-FR 7 30354549 30354549 single base substitution C T intron_variant BRCA-FR 7 30363230 30363230 single base substitution A T intron_variant BRCA-FR 7 30367237 30367237 single base substitution C T intron_variant BRCA-FR 7 30372647 30372647 single base substitution C T intron_variant BRCA-FR 7 30378970 30378970 single base substitution C A intron_variant BRCA-FR 7 30385327 30385327 single base substitution G C intron_variant BRCA-FR 7 30385416 30385416 single base substitution G A intron_variant BRCA-FR 7 30402123 30402123 single base substitution C T intron_variant BRCA-FR 7 30402745 30402745 single base substitution C T intron_variant BRCA-FR 7 30403652 30403652 single base substitution C G intron_variant BRCA-FR 7 30404300 30404300 single base substitution G A intron_variant BRCA-FR 7 30404538 30404538 single base substitution G A intron_variant BRCA-FR 7 30405001 30405001 single base substitution G C intron_variant BRCA-FR 7 30407331 30407331 single base substitution C T downstream_gene_variant BRCA-FR 7 30407331 30407331 single base substitution C T intron_variant BRCA-FR 7 30413680 30413680 single base substitution G C intron_variant BRCA-FR 7 30422768 30422768 single base substitution T C intron_variant BRCA-FR 7 30434433 30434433 single base substitution C G intron_variant BRCA-FR 7 30435340 30435340 single base substitution G C intron_variant BRCA-FR 7 30435426 30435426 single base substitution T G intron_variant BRCA-FR 7 30438796 30438796 single base substitution C T intron_variant BRCA-FR 7 30441931 30441931 single base substitution C G intron_variant BRCA-FR 7 30447500 30447500 single base substitution A G intron_variant BRCA-FR 7 30452049 30452049 single base substitution G C 3_prime_UTR_variant BRCA-FR 7 30452049 30452049 single base substitution G C downstream_gene_variant BRCA-UK 7 30325840 30325842 deletion of <=200bp GGG - intron_variant BRCA-UK 7 30355671 30355671 single base substitution A G intron_variant BRCA-UK 7 30386677 30386691 deletion of <=200bp TCTTCCCTCATTTAT - intron_variant BRCA-UK 7 30417168 30417168 single base substitution T A intron_variant BRCA-UK 7 30423273 30423273 single base substitution C G intron_variant BRCA-UK 7 30441554 30441554 single base substitution G A intron_variant BRCA-UK 7 30441720 30441739 deletion of <=200bp GAGACCATCTTCCAATATAA - intron_variant BRCA-US 7 30329454 30329456 deletion of <=200bp TGT - downstream_gene_variant BRCA-US 7 30329454 30329456 deletion of <=200bp TGT - intron_variant BRCA-US 7 30329505 30329505 single base substitution C T downstream_gene_variant BRCA-US 7 30329505 30329505 single base substitution C T intron_variant BRCA-US 7 30363299 30363299 single base substitution G A missense_variant E171K 511G>A BTCA-JP 7 30363250 30363250 insertion of <=200bp - T splice_region_variant BTCA-JP 7 30402077 30402077 deletion of <=200bp T - intron_variant BTCA-JP 7 30402077 30402077 deletion of <=200bp T - splice_region_variant CESC-US 7 30402033 30402033 single base substitution G C exon_variant CESC-US 7 30402033 30402033 single base substitution G C missense_variant E238Q 712G>C CLLE-ES 7 30324822 30324822 single base substitution C G 5_prime_UTR_variant CLLE-ES 7 30324822 30324822 single base substitution C G upstream_gene_variant CLLE-ES 7 30332882 30332882 single base substitution T G downstream_gene_variant CLLE-ES 7 30332882 30332882 single base substitution T G intron_variant CLLE-ES 7 30350506 30350506 single base substitution C T intron_variant CLLE-ES 7 30355466 30355466 single base substitution T C intron_variant CLLE-ES 7 30358743 30358743 single base substitution T C intron_variant CLLE-ES 7 30370852 30370852 single base substitution A G intron_variant CLLE-ES 7 30372334 30372334 single base substitution A G intron_variant CLLE-ES 7 30385153 30385153 single base substitution T C intron_variant CLLE-ES 7 30403869 30403869 single base substitution A T intron_variant CLLE-ES 7 30405277 30405277 single base substitution G T intron_variant CLLE-ES 7 30423560 30423560 single base substitution A G intron_variant CLLE-ES 7 30425508 30425508 single base substitution C T intron_variant CLLE-ES 7 30438936 30438936 single base substitution A G intron_variant CLLE-ES 7 30441304 30441304 single base substitution G A intron_variant COCA-CN 7 30326534 30326534 single base substitution A C intron_variant COCA-CN 7 30327421 30327421 single base substitution T A intron_variant COCA-CN 7 30346942 30346942 single base substitution G T intron_variant COCA-CN 7 30355937 30355937 single base substitution G A intron_variant COCA-CN 7 30370786 30370786 single base substitution A G intron_variant COCA-CN 7 30391066 30391066 single base substitution G C intron_variant COCA-CN 7 30399970 30399970 single base substitution A T intron_variant COCA-CN 7 30399970 30399970 single base substitution A T upstream_gene_variant COCA-CN 7 30452857 30452857 single base substitution C T downstream_gene_variant EOPC-DE 7 30430521 30430521 single base substitution A G intron_variant EOPC-DE 7 30430521 30430521 single base substitution A G upstream_gene_variant ESAD-UK 7 30321726 30321726 deletion of <=200bp G - upstream_gene_variant ESAD-UK 7 30322044 30322044 single base substitution C T upstream_gene_variant ESAD-UK 7 30323973 30323973 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 7 30323973 30323973 single base substitution C T upstream_gene_variant ESAD-UK 7 30324274 30324274 single base substitution G A 5_prime_UTR_variant ESAD-UK 7 30324274 30324274 single base substitution G A upstream_gene_variant ESAD-UK 7 30326343 30326343 single base substitution G T intron_variant ESAD-UK 7 30327854 30327854 single base substitution A T intron_variant ESAD-UK 7 30328818 30328821 deletion of <=200bp TGAT - downstream_gene_variant ESAD-UK 7 30328818 30328821 deletion of <=200bp TGAT - intron_variant ESAD-UK 7 30330205 30330205 single base substitution C A downstream_gene_variant ESAD-UK 7 30330205 30330205 single base substitution C A intron_variant ESAD-UK 7 30331034 30331034 single base substitution G T downstream_gene_variant ESAD-UK 7 30331034 30331034 single base substitution G T intron_variant ESAD-UK 7 30332499 30332499 single base substitution G A downstream_gene_variant ESAD-UK 7 30332499 30332499 single base substitution G A intron_variant ESAD-UK 7 30335055 30335055 single base substitution G T intron_variant ESAD-UK 7 30336775 30336775 single base substitution C A intron_variant ESAD-UK 7 30338587 30338587 single base substitution C T intron_variant ESAD-UK 7 30341586 30341586 single base substitution G A intron_variant ESAD-UK 7 30343857 30343857 deletion of <=200bp A - intron_variant ESAD-UK 7 30345969 30345969 single base substitution C A intron_variant ESAD-UK 7 30349835 30349835 single base substitution T G intron_variant ESAD-UK 7 30350470 30350470 insertion of <=200bp - CCTGT intron_variant ESAD-UK 7 30352832 30352832 single base substitution C T intron_variant ESAD-UK 7 30353182 30353182 single base substitution A T intron_variant ESAD-UK 7 30356785 30356785 single base substitution C G intron_variant ESAD-UK 7 30359177 30359177 single base substitution A T intron_variant ESAD-UK 7 30359464 30359464 single base substitution A T intron_variant ESAD-UK 7 30359686 30359687 deletion of <=200bp TT - intron_variant ESAD-UK 7 30360499 30360499 single base substitution G C intron_variant ESAD-UK 7 30360926 30360926 single base substitution A C intron_variant ESAD-UK 7 30363338 30363338 single base substitution C T stop_gained R184* 550C>T ESAD-UK 7 30364865 30364865 insertion of <=200bp - T intron_variant ESAD-UK 7 30365117 30365117 single base substitution T G intron_variant ESAD-UK 7 30365812 30365812 single base substitution G C intron_variant ESAD-UK 7 30366981 30366981 single base substitution G A intron_variant ESAD-UK 7 30367054 30367054 single base substitution G T intron_variant ESAD-UK 7 30370419 30370419 single base substitution A C intron_variant ESAD-UK 7 30370543 30370543 single base substitution G A intron_variant ESAD-UK 7 30372866 30372866 single base substitution C T intron_variant ESAD-UK 7 30373673 30373673 deletion of <=200bp T - intron_variant ESAD-UK 7 30375173 30375173 insertion of <=200bp - AT intron_variant ESAD-UK 7 30375940 30375940 single base substitution C T intron_variant ESAD-UK 7 30379247 30379247 single base substitution T G intron_variant ESAD-UK 7 30381463 30381463 single base substitution G A intron_variant ESAD-UK 7 30381983 30381983 single base substitution G A intron_variant ESAD-UK 7 30382058 30382058 single base substitution G A intron_variant ESAD-UK 7 30384805 30384805 single base substitution C T intron_variant ESAD-UK 7 30384943 30384943 deletion of <=200bp T - intron_variant ESAD-UK 7 30384950 30384950 single base substitution T C intron_variant ESAD-UK 7 30384980 30384980 single base substitution G T intron_variant ESAD-UK 7 30385159 30385159 single base substitution T A intron_variant ESAD-UK 7 30386539 30386539 single base substitution T G intron_variant ESAD-UK 7 30389250 30389250 single base substitution T G intron_variant ESAD-UK 7 30390386 30390386 single base substitution C G intron_variant ESAD-UK 7 30392216 30392216 single base substitution A G intron_variant ESAD-UK 7 30392570 30392570 single base substitution A C intron_variant ESAD-UK 7 30393329 30393329 single base substitution C T intron_variant ESAD-UK 7 30393572 30393572 insertion of <=200bp - T intron_variant ESAD-UK 7 30393881 30393882 deletion of <=200bp TG - intron_variant ESAD-UK 7 30396582 30396582 single base substitution A G intron_variant ESAD-UK 7 30399925 30399925 single base substitution G T intron_variant ESAD-UK 7 30399925 30399925 single base substitution G T upstream_gene_variant ESAD-UK 7 30406587 30406587 single base substitution A C 3_prime_UTR_variant ESAD-UK 7 30406587 30406587 single base substitution A C intron_variant ESAD-UK 7 30406837 30406837 single base substitution G T 3_prime_UTR_variant ESAD-UK 7 30406837 30406837 single base substitution G T intron_variant ESAD-UK 7 30408352 30408352 single base substitution A C downstream_gene_variant ESAD-UK 7 30408352 30408352 single base substitution A C intron_variant ESAD-UK 7 30408478 30408478 deletion of <=200bp T - downstream_gene_variant ESAD-UK 7 30408478 30408478 deletion of <=200bp T - intron_variant ESAD-UK 7 30408626 30408626 single base substitution A G downstream_gene_variant ESAD-UK 7 30408626 30408626 single base substitution A G intron_variant ESAD-UK 7 30409789 30409789 single base substitution A G downstream_gene_variant ESAD-UK 7 30409789 30409789 single base substitution A G intron_variant ESAD-UK 7 30410802 30410802 single base substitution T C downstream_gene_variant ESAD-UK 7 30410802 30410802 single base substitution T C intron_variant ESAD-UK 7 30414662 30414662 single base substitution C T intron_variant ESAD-UK 7 30414727 30414727 single base substitution A G intron_variant ESAD-UK 7 30415021 30415021 single base substitution T G intron_variant ESAD-UK 7 30416061 30416061 single base substitution A G intron_variant ESAD-UK 7 30416914 30416914 single base substitution A G intron_variant ESAD-UK 7 30418326 30418326 single base substitution G C intron_variant ESAD-UK 7 30418537 30418537 single base substitution G A intron_variant ESAD-UK 7 30419034 30419034 single base substitution C G intron_variant ESAD-UK 7 30421636 30421636 single base substitution G A intron_variant ESAD-UK 7 30424269 30424269 single base substitution G A intron_variant ESAD-UK 7 30425683 30425683 single base substitution T A intron_variant ESAD-UK 7 30425683 30425683 single base substitution T A upstream_gene_variant ESAD-UK 7 30427750 30427750 single base substitution A T intron_variant ESAD-UK 7 30427750 30427750 single base substitution A T upstream_gene_variant ESAD-UK 7 30427842 30427842 single base substitution A C intron_variant ESAD-UK 7 30427842 30427842 single base substitution A C upstream_gene_variant ESAD-UK 7 30428324 30428324 single base substitution T C intron_variant ESAD-UK 7 30428324 30428324 single base substitution T C upstream_gene_variant ESAD-UK 7 30428482 30428482 single base substitution A G intron_variant ESAD-UK 7 30428482 30428482 single base substitution A G upstream_gene_variant ESAD-UK 7 30431962 30431962 single base substitution C A intron_variant ESAD-UK 7 30432349 30432349 single base substitution A G intron_variant ESAD-UK 7 30436116 30436116 insertion of <=200bp - T intron_variant ESAD-UK 7 30436720 30436720 single base substitution A T intron_variant ESAD-UK 7 30443634 30443634 single base substitution A G intron_variant ESAD-UK 7 30446293 30446293 single base substitution G A intron_variant ESAD-UK 7 30448139 30448139 single base substitution C G intron_variant ESAD-UK 7 30448676 30448676 insertion of <=200bp - C intron_variant ESAD-UK 7 30453533 30453533 insertion of <=200bp - CCCC downstream_gene_variant LAML-KR 7 30339412 30339412 single base substitution G T intron_variant LAML-KR 7 30381680 30381680 single base substitution G T intron_variant LAML-KR 7 30427733 30427733 single base substitution A G intron_variant LAML-KR 7 30427733 30427733 single base substitution A G upstream_gene_variant LGG-US 7 30325442 30325442 deletion of <=200bp G - frameshift_variant G157 LGG-US 7 30325442 30325442 deletion of <=200bp G - splice_region_variant LGG-US 7 30412093 30412093 single base substitution C G downstream_gene_variant LGG-US 7 30412093 30412093 single base substitution C G intron_variant LICA-CN 7 30395412 30395412 single base substitution A G missense_variant I212V 634A>G LICA-FR 7 30325416 30325416 single base substitution C T exon_variant LICA-FR 7 30325416 30325416 single base substitution C T missense_variant A148V 443C>T LICA-FR 7 30327496 30327496 single base substitution G A intron_variant LICA-FR 7 30328995 30328995 single base substitution A G downstream_gene_variant LICA-FR 7 30328995 30328995 single base substitution A G intron_variant LICA-FR 7 30334630 30334630 single base substitution G A intron_variant LICA-FR 7 30335592 30335592 single base substitution A G intron_variant LICA-FR 7 30338216 30338216 single base substitution A G intron_variant LICA-FR 7 30339765 30339766 deletion of <=200bp TT - intron_variant LICA-FR 7 30346978 30346978 single base substitution G A intron_variant LICA-FR 7 30352871 30352871 deletion of <=200bp C - intron_variant LICA-FR 7 30372671 30372671 deletion of <=200bp T - intron_variant LICA-FR 7 30395436 30395436 single base substitution A G missense_variant I220V 658A>G LICA-FR 7 30421142 30421142 single base substitution G T intron_variant LICA-FR 7 30445908 30445908 single base substitution C T intron_variant LICA-FR 7 30457018 30457018 single base substitution G A downstream_gene_variant LINC-JP 7 30323798 30323798 deletion of <=200bp T - upstream_gene_variant LINC-JP 7 30332310 30332310 single base substitution C A downstream_gene_variant LINC-JP 7 30332310 30332310 single base substitution C A intron_variant LINC-JP 7 30340356 30340356 single base substitution A T intron_variant LINC-JP 7 30344340 30344340 single base substitution A G intron_variant LINC-JP 7 30347226 30347226 single base substitution A G intron_variant LINC-JP 7 30352235 30352235 single base substitution A T intron_variant LINC-JP 7 30356579 30356579 single base substitution A T intron_variant LINC-JP 7 30363518 30363518 single base substitution T C intron_variant LINC-JP 7 30390469 30390469 single base substitution C T intron_variant LINC-JP 7 30390524 30390524 single base substitution C T intron_variant LINC-JP 7 30395327 30395327 single base substitution A G intron_variant LINC-JP 7 30399707 30399707 single base substitution C G intron_variant LINC-JP 7 30399707 30399707 single base substitution C G upstream_gene_variant LINC-JP 7 30417350 30417350 single base substitution C A intron_variant LINC-JP 7 30448220 30448220 single base substitution G A intron_variant LIRI-JP 7 30321042 30321042 single base substitution C A upstream_gene_variant LIRI-JP 7 30322345 30322345 single base substitution C A upstream_gene_variant LIRI-JP 7 30323570 30323570 single base substitution A G upstream_gene_variant LIRI-JP 7 30327570 30327570 single base substitution T G intron_variant LIRI-JP 7 30328220 30328220 single base substitution T G intron_variant LIRI-JP 7 30328326 30328326 single base substitution A G intron_variant LIRI-JP 7 30331498 30331498 single base substitution G A downstream_gene_variant LIRI-JP 7 30331498 30331498 single base substitution G A intron_variant LIRI-JP 7 30332089 30332089 single base substitution G A downstream_gene_variant LIRI-JP 7 30332089 30332089 single base substitution G A intron_variant LIRI-JP 7 30332313 30332313 single base substitution T A downstream_gene_variant LIRI-JP 7 30332313 30332313 single base substitution T A intron_variant LIRI-JP 7 30333382 30333382 single base substitution A G downstream_gene_variant LIRI-JP 7 30333382 30333382 single base substitution A G intron_variant LIRI-JP 7 30333527 30333527 single base substitution C G downstream_gene_variant LIRI-JP 7 30333527 30333527 single base substitution C G intron_variant LIRI-JP 7 30334101 30334101 single base substitution A G intron_variant LIRI-JP 7 30335388 30335388 single base substitution A G intron_variant LIRI-JP 7 30336324 30336324 single base substitution G A intron_variant LIRI-JP 7 30337499 30337499 single base substitution A G intron_variant LIRI-JP 7 30342769 30342769 single base substitution C T intron_variant LIRI-JP 7 30343961 30343961 deletion of <=200bp T - intron_variant LIRI-JP 7 30348130 30348130 single base substitution A G intron_variant LIRI-JP 7 30348192 30348192 single base substitution A T intron_variant LIRI-JP 7 30349562 30349562 single base substitution G T intron_variant LIRI-JP 7 30354506 30354506 single base substitution C A intron_variant LIRI-JP 7 30354817 30354817 single base substitution A G intron_variant LIRI-JP 7 30355011 30355011 single base substitution G T intron_variant LIRI-JP 7 30359425 30359425 single base substitution A G intron_variant LIRI-JP 7 30359951 30359951 single base substitution A G intron_variant LIRI-JP 7 30361217 30361228 deletion of <=200bp GGCTCTCAAGTG - intron_variant LIRI-JP 7 30362412 30362412 single base substitution G A intron_variant LIRI-JP 7 30362539 30362539 single base substitution A T intron_variant LIRI-JP 7 30363109 30363109 single base substitution A G intron_variant LIRI-JP 7 30364245 30364245 single base substitution T G intron_variant LIRI-JP 7 30365385 30365385 single base substitution A T intron_variant LIRI-JP 7 30367195 30367195 single base substitution T G intron_variant LIRI-JP 7 30367201 30367201 single base substitution A G intron_variant LIRI-JP 7 30368210 30368210 single base substitution A C intron_variant LIRI-JP 7 30369282 30369282 single base substitution A G intron_variant LIRI-JP 7 30369566 30369566 single base substitution A G intron_variant LIRI-JP 7 30370056 30370056 single base substitution A G intron_variant LIRI-JP 7 30371751 30371751 single base substitution A G intron_variant LIRI-JP 7 30372185 30372185 single base substitution T G intron_variant LIRI-JP 7 30373501 30373501 single base substitution C A intron_variant LIRI-JP 7 30373510 30373510 single base substitution A G intron_variant LIRI-JP 7 30375711 30375711 single base substitution A C intron_variant LIRI-JP 7 30378834 30378834 single base substitution G T intron_variant LIRI-JP 7 30380556 30380556 single base substitution G A intron_variant LIRI-JP 7 30387343 30387343 single base substitution A G intron_variant LIRI-JP 7 30391137 30391137 single base substitution A G intron_variant LIRI-JP 7 30392213 30392213 single base substitution A T intron_variant LIRI-JP 7 30393099 30393099 single base substitution A G intron_variant LIRI-JP 7 30394949 30394949 single base substitution A G intron_variant LIRI-JP 7 30396540 30396540 single base substitution C G intron_variant LIRI-JP 7 30396554 30396554 single base substitution C T intron_variant LIRI-JP 7 30400776 30400776 single base substitution T G intron_variant LIRI-JP 7 30400776 30400776 single base substitution T G upstream_gene_variant LIRI-JP 7 30402929 30402929 single base substitution A G intron_variant LIRI-JP 7 30403517 30403517 single base substitution T C intron_variant LIRI-JP 7 30407370 30407370 single base substitution A G downstream_gene_variant LIRI-JP 7 30407370 30407370 single base substitution A G intron_variant LIRI-JP 7 30407442 30407442 single base substitution A G downstream_gene_variant LIRI-JP 7 30407442 30407442 single base substitution A G intron_variant LIRI-JP 7 30407643 30407643 single base substitution A G downstream_gene_variant LIRI-JP 7 30407643 30407643 single base substitution A G intron_variant LIRI-JP 7 30408268 30408268 single base substitution C G downstream_gene_variant LIRI-JP 7 30408268 30408268 single base substitution C G intron_variant LIRI-JP 7 30408819 30408819 single base substitution C T downstream_gene_variant LIRI-JP 7 30408819 30408819 single base substitution C T intron_variant LIRI-JP 7 30411062 30411062 single base substitution A T downstream_gene_variant LIRI-JP 7 30411062 30411062 single base substitution A T intron_variant LIRI-JP 7 30411672 30411672 single base substitution A G downstream_gene_variant LIRI-JP 7 30411672 30411672 single base substitution A G intron_variant LIRI-JP 7 30412182 30412182 single base substitution T C downstream_gene_variant LIRI-JP 7 30412182 30412182 single base substitution T C intron_variant LIRI-JP 7 30413666 30413666 single base substitution T C intron_variant LIRI-JP 7 30415120 30415120 single base substitution G A intron_variant LIRI-JP 7 30416184 30416184 single base substitution C T intron_variant LIRI-JP 7 30416259 30416259 single base substitution G A intron_variant LIRI-JP 7 30419411 30419411 single base substitution T G intron_variant LIRI-JP 7 30421104 30421104 single base substitution T C intron_variant LIRI-JP 7 30421353 30421353 single base substitution A C intron_variant LIRI-JP 7 30421768 30421768 single base substitution A G intron_variant LIRI-JP 7 30421885 30421885 single base substitution A G intron_variant LIRI-JP 7 30423970 30423970 single base substitution A G intron_variant LIRI-JP 7 30425240 30425240 single base substitution C A intron_variant LIRI-JP 7 30427048 30427048 single base substitution A C intron_variant LIRI-JP 7 30427048 30427048 single base substitution A C upstream_gene_variant LIRI-JP 7 30431882 30431882 single base substitution A T intron_variant LIRI-JP 7 30433160 30433160 single base substitution A G intron_variant LIRI-JP 7 30435604 30435604 single base substitution A G intron_variant LIRI-JP 7 30435912 30435912 single base substitution C T intron_variant LIRI-JP 7 30438572 30438572 single base substitution G A intron_variant LIRI-JP 7 30438826 30438826 single base substitution G A intron_variant LIRI-JP 7 30439213 30439213 single base substitution A C intron_variant LIRI-JP 7 30443417 30443417 single base substitution A G intron_variant LIRI-JP 7 30447547 30447547 single base substitution A T intron_variant LIRI-JP 7 30448151 30448151 single base substitution A G intron_variant LIRI-JP 7 30449921 30449921 single base substitution G C intron_variant LIRI-JP 7 30450562 30450562 single base substitution A G intron_variant LIRI-JP 7 30450693 30450693 single base substitution A C intron_variant LIRI-JP 7 30450732 30450732 single base substitution C T intron_variant LUSC-KR 7 30319763 30319763 single base substitution G C upstream_gene_variant LUSC-KR 7 30334294 30334294 single base substitution G T intron_variant LUSC-KR 7 30338447 30338447 single base substitution C T intron_variant LUSC-KR 7 30349777 30349777 single base substitution G T intron_variant LUSC-KR 7 30350373 30350373 single base substitution G T intron_variant LUSC-KR 7 30354487 30354487 single base substitution C T intron_variant LUSC-KR 7 30357956 30357956 single base substitution T C intron_variant LUSC-KR 7 30357972 30357972 single base substitution C G intron_variant LUSC-KR 7 30358741 30358741 single base substitution A T intron_variant LUSC-KR 7 30360508 30360508 single base substitution T A intron_variant LUSC-KR 7 30367756 30367756 single base substitution G T intron_variant LUSC-KR 7 30371658 30371658 single base substitution T C intron_variant LUSC-KR 7 30373306 30373306 single base substitution A G intron_variant LUSC-KR 7 30382310 30382310 single base substitution G T intron_variant LUSC-KR 7 30382391 30382391 single base substitution C G intron_variant LUSC-KR 7 30386139 30386139 single base substitution G C intron_variant LUSC-KR 7 30390634 30390634 single base substitution A T intron_variant LUSC-KR 7 30398312 30398312 single base substitution G A intron_variant LUSC-KR 7 30398312 30398312 single base substitution G A upstream_gene_variant LUSC-KR 7 30398488 30398488 single base substitution G A intron_variant LUSC-KR 7 30398488 30398488 single base substitution G A upstream_gene_variant LUSC-KR 7 30398992 30398992 single base substitution A G intron_variant LUSC-KR 7 30398992 30398992 single base substitution A G upstream_gene_variant LUSC-KR 7 30400368 30400368 single base substitution A G intron_variant LUSC-KR 7 30400368 30400368 single base substitution A G upstream_gene_variant LUSC-KR 7 30403095 30403095 single base substitution G T intron_variant LUSC-KR 7 30403969 30403969 single base substitution A T intron_variant LUSC-KR 7 30414452 30414452 single base substitution G T intron_variant LUSC-KR 7 30418131 30418131 single base substitution G T intron_variant LUSC-KR 7 30419941 30419941 single base substitution C G intron_variant LUSC-KR 7 30426728 30426728 single base substitution C G intron_variant LUSC-KR 7 30426728 30426728 single base substitution C G upstream_gene_variant LUSC-KR 7 30427247 30427247 single base substitution G C intron_variant LUSC-KR 7 30427247 30427247 single base substitution G C upstream_gene_variant LUSC-KR 7 30437855 30437855 single base substitution G A intron_variant LUSC-KR 7 30443630 30443630 single base substitution G A intron_variant LUSC-KR 7 30444250 30444250 single base substitution G C intron_variant LUSC-KR 7 30445812 30445812 single base substitution A T intron_variant LUSC-KR 7 30449926 30449926 single base substitution C T intron_variant LUSC-KR 7 30450423 30450423 single base substitution C T intron_variant LUSC-KR 7 30455765 30455765 single base substitution C G downstream_gene_variant LUSC-KR 7 30456106 30456106 single base substitution C G downstream_gene_variant LUSC-US 7 30329465 30329465 single base substitution G A downstream_gene_variant LUSC-US 7 30329465 30329465 single base substitution G A intron_variant LUSC-US 7 30329469 30329469 single base substitution G T downstream_gene_variant LUSC-US 7 30329469 30329469 single base substitution G T intron_variant LUSC-US 7 30363339 30363339 single base substitution G T missense_variant R184L 551G>T LUSC-US 7 30402003 30402003 single base substitution G C missense_variant E228Q 682G>C LUSC-US 7 30402003 30402003 single base substitution G C upstream_gene_variant MALY-DE 7 30320073 30320073 single base substitution T G upstream_gene_variant MALY-DE 7 30320084 30320084 single base substitution T G upstream_gene_variant MALY-DE 7 30323329 30323329 single base substitution C A upstream_gene_variant MALY-DE 7 30323654 30323654 single base substitution C A upstream_gene_variant MALY-DE 7 30341144 30341144 single base substitution A C intron_variant MALY-DE 7 30347038 30347038 single base substitution T C intron_variant MALY-DE 7 30349519 30349519 insertion of <=200bp - ATAC intron_variant MALY-DE 7 30350355 30350355 single base substitution T C intron_variant MALY-DE 7 30353396 30353396 single base substitution G A intron_variant MALY-DE 7 30356027 30356027 single base substitution A G intron_variant MALY-DE 7 30364155 30364155 single base substitution A G intron_variant MALY-DE 7 30368699 30368699 single base substitution T C intron_variant MALY-DE 7 30380316 30380316 insertion of <=200bp - T intron_variant MALY-DE 7 30389230 30389230 single base substitution A C intron_variant MALY-DE 7 30394959 30394959 single base substitution C G intron_variant MALY-DE 7 30399451 30399451 single base substitution T C intron_variant MALY-DE 7 30399451 30399451 single base substitution T C upstream_gene_variant MALY-DE 7 30400376 30400376 insertion of <=200bp - A intron_variant MALY-DE 7 30400376 30400376 insertion of <=200bp - A upstream_gene_variant MALY-DE 7 30411852 30411852 insertion of <=200bp - G downstream_gene_variant MALY-DE 7 30411852 30411852 insertion of <=200bp - G intron_variant MALY-DE 7 30413640 30413640 single base substitution G A intron_variant MALY-DE 7 30422470 30422470 single base substitution T G intron_variant MALY-DE 7 30423676 30423676 single base substitution G A intron_variant MALY-DE 7 30433330 30433330 single base substitution T C intron_variant MALY-DE 7 30442720 30442720 single base substitution T C intron_variant MALY-DE 7 30449656 30449666 deletion of <=200bp TTGAGTTCTAT - intron_variant MALY-DE 7 30450420 30450420 single base substitution T C intron_variant MALY-DE 7 30452723 30452723 single base substitution A G downstream_gene_variant MELA-AU 7 30319232 30319232 single base substitution G A upstream_gene_variant MELA-AU 7 30319682 30319682 single base substitution G T upstream_gene_variant MELA-AU 7 30319902 30319902 single base substitution G A upstream_gene_variant MELA-AU 7 30320966 30320967 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 30323007 30323007 single base substitution G C upstream_gene_variant MELA-AU 7 30323205 30323205 single base substitution G A upstream_gene_variant MELA-AU 7 30324132 30324132 single base substitution G A 5_prime_UTR_variant MELA-AU 7 30324132 30324132 single base substitution G A upstream_gene_variant MELA-AU 7 30324268 30324268 deletion of <=200bp G - 5_prime_UTR_variant MELA-AU 7 30324268 30324268 deletion of <=200bp G - upstream_gene_variant MELA-AU 7 30324367 30324367 single base substitution G A 5_prime_UTR_variant MELA-AU 7 30324367 30324367 single base substitution G A upstream_gene_variant MELA-AU 7 30324478 30324478 single base substitution G A 5_prime_UTR_variant MELA-AU 7 30324478 30324478 single base substitution G A upstream_gene_variant MELA-AU 7 30324859 30324859 single base substitution G A 5_prime_UTR_variant MELA-AU 7 30324859 30324859 single base substitution G A upstream_gene_variant MELA-AU 7 30325097 30325097 single base substitution C T missense_variant R42W 124C>T MELA-AU 7 30325097 30325097 single base substitution C T upstream_gene_variant MELA-AU 7 30326062 30326062 single base substitution G A intron_variant MELA-AU 7 30326399 30326399 single base substitution C T intron_variant MELA-AU 7 30326634 30326634 single base substitution C T intron_variant MELA-AU 7 30326945 30326945 single base substitution C T intron_variant MELA-AU 7 30327102 30327102 single base substitution C T intron_variant MELA-AU 7 30327493 30327493 single base substitution C T intron_variant MELA-AU 7 30327931 30327931 single base substitution C T intron_variant MELA-AU 7 30328154 30328154 single base substitution G A intron_variant MELA-AU 7 30328922 30328922 single base substitution C T downstream_gene_variant MELA-AU 7 30328922 30328922 single base substitution C T intron_variant MELA-AU 7 30330147 30330147 single base substitution T A downstream_gene_variant MELA-AU 7 30330147 30330147 single base substitution T A intron_variant MELA-AU 7 30330390 30330390 single base substitution T C downstream_gene_variant MELA-AU 7 30330390 30330390 single base substitution T C intron_variant MELA-AU 7 30330755 30330755 single base substitution C T downstream_gene_variant MELA-AU 7 30330755 30330755 single base substitution C T intron_variant MELA-AU 7 30331133 30331133 single base substitution T C downstream_gene_variant MELA-AU 7 30331133 30331133 single base substitution T C intron_variant MELA-AU 7 30332079 30332079 single base substitution C T downstream_gene_variant MELA-AU 7 30332079 30332079 single base substitution C T intron_variant MELA-AU 7 30332080 30332080 single base substitution C T downstream_gene_variant MELA-AU 7 30332080 30332080 single base substitution C T intron_variant MELA-AU 7 30332774 30332774 single base substitution C T downstream_gene_variant MELA-AU 7 30332774 30332774 single base substitution C T intron_variant MELA-AU 7 30333724 30333724 single base substitution G A intron_variant MELA-AU 7 30333777 30333777 single base substitution C T intron_variant MELA-AU 7 30334064 30334064 single base substitution C T intron_variant MELA-AU 7 30334275 30334275 single base substitution C T intron_variant MELA-AU 7 30335466 30335466 single base substitution C T intron_variant MELA-AU 7 30335564 30335564 single base substitution C T intron_variant MELA-AU 7 30336989 30336989 single base substitution T A intron_variant MELA-AU 7 30338771 30338771 single base substitution T G intron_variant MELA-AU 7 30340158 30340159 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30340615 30340615 single base substitution C T intron_variant MELA-AU 7 30341096 30341096 single base substitution C T intron_variant MELA-AU 7 30341315 30341315 single base substitution T A intron_variant MELA-AU 7 30342098 30342098 single base substitution T C intron_variant MELA-AU 7 30342109 30342109 single base substitution C T intron_variant MELA-AU 7 30342248 30342248 single base substitution C T intron_variant MELA-AU 7 30342328 30342328 single base substitution A G intron_variant MELA-AU 7 30342976 30342976 single base substitution A T intron_variant MELA-AU 7 30343591 30343591 single base substitution C T intron_variant MELA-AU 7 30343855 30343856 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 7 30344266 30344266 single base substitution C T intron_variant MELA-AU 7 30345652 30345652 single base substitution C T intron_variant MELA-AU 7 30345711 30345711 single base substitution T A intron_variant MELA-AU 7 30347072 30347072 single base substitution G A intron_variant MELA-AU 7 30347482 30347482 single base substitution T G intron_variant MELA-AU 7 30347500 30347500 single base substitution C G intron_variant MELA-AU 7 30348155 30348155 single base substitution C T intron_variant MELA-AU 7 30348849 30348849 single base substitution T A intron_variant MELA-AU 7 30349549 30349549 single base substitution G A intron_variant MELA-AU 7 30349735 30349735 single base substitution G T intron_variant MELA-AU 7 30350123 30350123 single base substitution T C intron_variant MELA-AU 7 30350496 30350496 single base substitution C T intron_variant MELA-AU 7 30350501 30350501 single base substitution T C intron_variant MELA-AU 7 30350506 30350506 single base substitution C T intron_variant MELA-AU 7 30351342 30351342 single base substitution T A intron_variant MELA-AU 7 30351639 30351639 single base substitution G A intron_variant MELA-AU 7 30351809 30351809 single base substitution G A intron_variant MELA-AU 7 30351811 30351811 single base substitution G A intron_variant MELA-AU 7 30352734 30352734 single base substitution C T intron_variant MELA-AU 7 30353120 30353120 single base substitution C T intron_variant MELA-AU 7 30353323 30353323 single base substitution C T intron_variant MELA-AU 7 30354143 30354143 single base substitution A G intron_variant MELA-AU 7 30355155 30355155 single base substitution T A intron_variant MELA-AU 7 30355478 30355478 single base substitution A C intron_variant MELA-AU 7 30356101 30356102 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 30356685 30356685 single base substitution C T intron_variant MELA-AU 7 30357042 30357042 single base substitution G A intron_variant MELA-AU 7 30357421 30357421 single base substitution C T intron_variant MELA-AU 7 30357642 30357642 single base substitution G A intron_variant MELA-AU 7 30358174 30358174 single base substitution C T intron_variant MELA-AU 7 30358790 30358790 single base substitution C T intron_variant MELA-AU 7 30359456 30359456 single base substitution T A intron_variant MELA-AU 7 30360047 30360047 single base substitution C T intron_variant MELA-AU 7 30360320 30360320 single base substitution C A intron_variant MELA-AU 7 30360661 30360661 single base substitution C T intron_variant MELA-AU 7 30360690 30360690 single base substitution C T intron_variant MELA-AU 7 30360910 30360910 single base substitution G A intron_variant MELA-AU 7 30360936 30360936 single base substitution G A intron_variant MELA-AU 7 30361113 30361113 single base substitution G A intron_variant MELA-AU 7 30362325 30362325 single base substitution C T intron_variant MELA-AU 7 30362350 30362350 single base substitution C T intron_variant MELA-AU 7 30363612 30363612 single base substitution T G intron_variant MELA-AU 7 30364060 30364060 single base substitution G A intron_variant MELA-AU 7 30364398 30364398 single base substitution T G intron_variant MELA-AU 7 30364584 30364584 single base substitution C T intron_variant MELA-AU 7 30364751 30364751 single base substitution G A intron_variant MELA-AU 7 30365898 30365898 single base substitution C T intron_variant MELA-AU 7 30365910 30365910 single base substitution C T intron_variant MELA-AU 7 30366085 30366085 single base substitution C T intron_variant MELA-AU 7 30366252 30366252 single base substitution C T intron_variant MELA-AU 7 30366387 30366387 single base substitution C T intron_variant MELA-AU 7 30367908 30367908 single base substitution C T intron_variant MELA-AU 7 30369002 30369002 single base substitution C T intron_variant MELA-AU 7 30369061 30369061 single base substitution C T intron_variant MELA-AU 7 30369364 30369364 single base substitution A C intron_variant MELA-AU 7 30369477 30369477 single base substitution C T intron_variant MELA-AU 7 30369556 30369556 single base substitution C T intron_variant MELA-AU 7 30369765 30369765 single base substitution G A intron_variant MELA-AU 7 30369807 30369807 single base substitution G A intron_variant MELA-AU 7 30369815 30369815 single base substitution T A intron_variant MELA-AU 7 30370265 30370265 single base substitution G A intron_variant MELA-AU 7 30370306 30370306 single base substitution G A intron_variant MELA-AU 7 30370745 30370745 single base substitution G A intron_variant MELA-AU 7 30371434 30371434 single base substitution C T intron_variant MELA-AU 7 30371978 30371978 single base substitution T C intron_variant MELA-AU 7 30371999 30371999 single base substitution C T intron_variant MELA-AU 7 30373096 30373096 single base substitution C T intron_variant MELA-AU 7 30373106 30373106 single base substitution C T intron_variant MELA-AU 7 30373230 30373230 single base substitution C T intron_variant MELA-AU 7 30374516 30374516 single base substitution C T intron_variant MELA-AU 7 30374854 30374854 single base substitution C T intron_variant MELA-AU 7 30375633 30375633 single base substitution C T intron_variant MELA-AU 7 30375891 30375891 single base substitution C T intron_variant MELA-AU 7 30376045 30376045 single base substitution C T intron_variant MELA-AU 7 30377137 30377137 single base substitution C T intron_variant MELA-AU 7 30378461 30378461 single base substitution C T intron_variant MELA-AU 7 30378502 30378502 single base substitution C T intron_variant MELA-AU 7 30379139 30379140 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30379962 30379962 single base substitution C T intron_variant MELA-AU 7 30380173 30380173 single base substitution T C intron_variant MELA-AU 7 30380611 30380611 single base substitution C T intron_variant MELA-AU 7 30380788 30380788 single base substitution C T intron_variant MELA-AU 7 30381222 30381222 single base substitution C T intron_variant MELA-AU 7 30381239 30381239 single base substitution G A intron_variant MELA-AU 7 30381650 30381650 single base substitution G A intron_variant MELA-AU 7 30381990 30381990 single base substitution C T intron_variant MELA-AU 7 30382367 30382367 single base substitution T A intron_variant MELA-AU 7 30382374 30382374 single base substitution C T intron_variant MELA-AU 7 30382508 30382508 deletion of <=200bp T - intron_variant MELA-AU 7 30382517 30382517 single base substitution C T intron_variant MELA-AU 7 30382723 30382723 single base substitution A G intron_variant MELA-AU 7 30382978 30382978 single base substitution C T intron_variant MELA-AU 7 30383045 30383045 single base substitution C T intron_variant MELA-AU 7 30383318 30383318 single base substitution C T intron_variant MELA-AU 7 30383389 30383389 single base substitution T G intron_variant MELA-AU 7 30383639 30383639 single base substitution G A intron_variant MELA-AU 7 30383645 30383645 single base substitution C T intron_variant MELA-AU 7 30383847 30383847 single base substitution G C intron_variant MELA-AU 7 30384045 30384045 single base substitution C T intron_variant MELA-AU 7 30384881 30384881 single base substitution C T intron_variant MELA-AU 7 30384957 30384957 single base substitution C T intron_variant MELA-AU 7 30385428 30385428 single base substitution T G intron_variant MELA-AU 7 30385467 30385467 single base substitution T G intron_variant MELA-AU 7 30385644 30385644 single base substitution C T intron_variant MELA-AU 7 30386196 30386196 single base substitution C T intron_variant MELA-AU 7 30386621 30386621 single base substitution C T intron_variant MELA-AU 7 30386663 30386663 single base substitution C T intron_variant MELA-AU 7 30386981 30386981 single base substitution C T intron_variant MELA-AU 7 30387358 30387358 single base substitution C T intron_variant MELA-AU 7 30387397 30387397 single base substitution T A intron_variant MELA-AU 7 30388306 30388306 single base substitution C A intron_variant MELA-AU 7 30389870 30389870 single base substitution C T intron_variant MELA-AU 7 30390168 30390168 single base substitution T A intron_variant MELA-AU 7 30390575 30390575 single base substitution C T intron_variant MELA-AU 7 30390880 30390880 single base substitution C T intron_variant MELA-AU 7 30391019 30391019 single base substitution A T intron_variant MELA-AU 7 30391441 30391441 single base substitution C T intron_variant MELA-AU 7 30391701 30391701 single base substitution T A intron_variant MELA-AU 7 30392752 30392752 single base substitution A G intron_variant MELA-AU 7 30393099 30393099 single base substitution A T intron_variant MELA-AU 7 30393999 30393999 single base substitution G A intron_variant MELA-AU 7 30395101 30395101 single base substitution T A intron_variant MELA-AU 7 30395531 30395531 single base substitution C T intron_variant MELA-AU 7 30395578 30395578 single base substitution A G intron_variant MELA-AU 7 30395630 30395631 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30396284 30396284 single base substitution C T intron_variant MELA-AU 7 30397444 30397444 single base substitution T C intron_variant MELA-AU 7 30397444 30397444 single base substitution T C upstream_gene_variant MELA-AU 7 30398755 30398755 single base substitution T C intron_variant MELA-AU 7 30398755 30398755 single base substitution T C upstream_gene_variant MELA-AU 7 30398809 30398809 single base substitution C T intron_variant MELA-AU 7 30398809 30398809 single base substitution C T upstream_gene_variant MELA-AU 7 30399753 30399753 single base substitution G C intron_variant MELA-AU 7 30399753 30399753 single base substitution G C upstream_gene_variant MELA-AU 7 30400038 30400038 single base substitution G A intron_variant MELA-AU 7 30400038 30400038 single base substitution G A upstream_gene_variant MELA-AU 7 30400544 30400544 single base substitution C T intron_variant MELA-AU 7 30400544 30400544 single base substitution C T upstream_gene_variant MELA-AU 7 30401024 30401024 single base substitution G T intron_variant MELA-AU 7 30401024 30401024 single base substitution G T upstream_gene_variant MELA-AU 7 30401348 30401348 single base substitution C T intron_variant MELA-AU 7 30401348 30401348 single base substitution C T upstream_gene_variant MELA-AU 7 30403629 30403629 single base substitution T G intron_variant MELA-AU 7 30404988 30404989 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 7 30405303 30405303 single base substitution T G intron_variant MELA-AU 7 30405405 30405405 single base substitution T A intron_variant MELA-AU 7 30405783 30405783 single base substitution C T 3_prime_UTR_variant MELA-AU 7 30406054 30406054 single base substitution C T 3_prime_UTR_variant MELA-AU 7 30406054 30406054 single base substitution C T intron_variant MELA-AU 7 30406069 30406069 single base substitution C T 3_prime_UTR_variant MELA-AU 7 30406069 30406069 single base substitution C T intron_variant MELA-AU 7 30406346 30406346 single base substitution T C 3_prime_UTR_variant MELA-AU 7 30406346 30406346 single base substitution T C intron_variant MELA-AU 7 30406806 30406806 single base substitution T G 3_prime_UTR_variant MELA-AU 7 30406806 30406806 single base substitution T G intron_variant MELA-AU 7 30407186 30407186 single base substitution C T 3_prime_UTR_variant MELA-AU 7 30407186 30407186 single base substitution C T intron_variant MELA-AU 7 30407853 30407853 single base substitution T C downstream_gene_variant MELA-AU 7 30407853 30407853 single base substitution T C intron_variant MELA-AU 7 30407874 30407874 single base substitution A G downstream_gene_variant MELA-AU 7 30407874 30407874 single base substitution A G intron_variant MELA-AU 7 30408181 30408181 single base substitution G A downstream_gene_variant MELA-AU 7 30408181 30408181 single base substitution G A intron_variant MELA-AU 7 30409155 30409155 single base substitution C T downstream_gene_variant MELA-AU 7 30409155 30409155 single base substitution C T intron_variant MELA-AU 7 30409357 30409357 single base substitution T G downstream_gene_variant MELA-AU 7 30409357 30409357 single base substitution T G intron_variant MELA-AU 7 30410288 30410288 single base substitution T C downstream_gene_variant MELA-AU 7 30410288 30410288 single base substitution T C intron_variant MELA-AU 7 30410493 30410493 single base substitution C T downstream_gene_variant MELA-AU 7 30410493 30410493 single base substitution C T intron_variant MELA-AU 7 30410577 30410577 single base substitution C T downstream_gene_variant MELA-AU 7 30410577 30410577 single base substitution C T intron_variant MELA-AU 7 30410665 30410665 single base substitution G A downstream_gene_variant MELA-AU 7 30410665 30410665 single base substitution G A intron_variant MELA-AU 7 30410725 30410725 single base substitution C T downstream_gene_variant MELA-AU 7 30410725 30410725 single base substitution C T intron_variant MELA-AU 7 30410992 30410992 single base substitution C T downstream_gene_variant MELA-AU 7 30410992 30410992 single base substitution C T intron_variant MELA-AU 7 30411367 30411367 single base substitution C T downstream_gene_variant MELA-AU 7 30411367 30411367 single base substitution C T intron_variant MELA-AU 7 30412293 30412294 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 30412293 30412294 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30412369 30412369 single base substitution C T intron_variant MELA-AU 7 30412382 30412382 single base substitution C T intron_variant MELA-AU 7 30412530 30412530 single base substitution T C intron_variant MELA-AU 7 30413023 30413023 single base substitution C T intron_variant MELA-AU 7 30413042 30413042 single base substitution T G intron_variant MELA-AU 7 30413489 30413489 single base substitution G T intron_variant MELA-AU 7 30414606 30414606 single base substitution C A intron_variant MELA-AU 7 30414661 30414661 single base substitution C T intron_variant MELA-AU 7 30414979 30414979 single base substitution C T intron_variant MELA-AU 7 30415224 30415224 single base substitution T C intron_variant MELA-AU 7 30416050 30416050 single base substitution A T intron_variant MELA-AU 7 30416065 30416065 single base substitution A G intron_variant MELA-AU 7 30416130 30416130 single base substitution C T intron_variant MELA-AU 7 30416207 30416207 single base substitution T C intron_variant MELA-AU 7 30416300 30416300 single base substitution C T intron_variant MELA-AU 7 30416939 30416939 single base substitution C T intron_variant MELA-AU 7 30418702 30418702 single base substitution C T intron_variant MELA-AU 7 30419086 30419086 single base substitution T A intron_variant MELA-AU 7 30419378 30419378 single base substitution C T intron_variant MELA-AU 7 30420488 30420488 single base substitution C T intron_variant MELA-AU 7 30420502 30420502 single base substitution C T intron_variant MELA-AU 7 30420602 30420602 single base substitution C T intron_variant MELA-AU 7 30420634 30420634 single base substitution C T intron_variant MELA-AU 7 30421112 30421112 single base substitution C T intron_variant MELA-AU 7 30421393 30421393 single base substitution C T intron_variant MELA-AU 7 30421896 30421896 single base substitution C T intron_variant MELA-AU 7 30421909 30421909 single base substitution C T intron_variant MELA-AU 7 30421957 30421957 single base substitution C A intron_variant MELA-AU 7 30423087 30423087 single base substitution G C intron_variant MELA-AU 7 30423223 30423223 single base substitution C T intron_variant MELA-AU 7 30423882 30423882 single base substitution C T intron_variant MELA-AU 7 30424351 30424351 single base substitution C T intron_variant MELA-AU 7 30424370 30424370 single base substitution G A intron_variant MELA-AU 7 30424433 30424433 single base substitution C T intron_variant MELA-AU 7 30424670 30424670 single base substitution C T intron_variant MELA-AU 7 30425203 30425203 single base substitution C T intron_variant MELA-AU 7 30425373 30425373 single base substitution C T intron_variant MELA-AU 7 30425763 30425775 deletion of <=200bp AATTTCATTAATA - intron_variant MELA-AU 7 30425763 30425775 deletion of <=200bp AATTTCATTAATA - upstream_gene_variant MELA-AU 7 30425768 30425768 single base substitution C T intron_variant MELA-AU 7 30425768 30425768 single base substitution C T upstream_gene_variant MELA-AU 7 30426791 30426791 single base substitution C T intron_variant MELA-AU 7 30426791 30426791 single base substitution C T upstream_gene_variant MELA-AU 7 30427232 30427232 single base substitution C T intron_variant MELA-AU 7 30427232 30427232 single base substitution C T upstream_gene_variant MELA-AU 7 30427307 30427307 single base substitution C T intron_variant MELA-AU 7 30427307 30427307 single base substitution C T upstream_gene_variant MELA-AU 7 30427833 30427833 single base substitution C T intron_variant MELA-AU 7 30427833 30427833 single base substitution C T upstream_gene_variant MELA-AU 7 30428607 30428607 single base substitution G A intron_variant MELA-AU 7 30428607 30428607 single base substitution G A upstream_gene_variant MELA-AU 7 30428717 30428717 single base substitution C T intron_variant MELA-AU 7 30428717 30428717 single base substitution C T upstream_gene_variant MELA-AU 7 30428973 30428973 single base substitution G A intron_variant MELA-AU 7 30428973 30428973 single base substitution G A upstream_gene_variant MELA-AU 7 30429040 30429040 single base substitution T G intron_variant MELA-AU 7 30429040 30429040 single base substitution T G upstream_gene_variant MELA-AU 7 30429400 30429400 single base substitution C T intron_variant MELA-AU 7 30429400 30429400 single base substitution C T upstream_gene_variant MELA-AU 7 30429591 30429591 single base substitution C T intron_variant MELA-AU 7 30429591 30429591 single base substitution C T upstream_gene_variant MELA-AU 7 30429686 30429686 single base substitution C T intron_variant MELA-AU 7 30429686 30429686 single base substitution C T upstream_gene_variant MELA-AU 7 30429729 30429729 single base substitution C T intron_variant MELA-AU 7 30429729 30429729 single base substitution C T upstream_gene_variant MELA-AU 7 30430138 30430138 single base substitution C T intron_variant MELA-AU 7 30430138 30430138 single base substitution C T upstream_gene_variant MELA-AU 7 30430443 30430443 single base substitution G A intron_variant MELA-AU 7 30430443 30430443 single base substitution G A upstream_gene_variant MELA-AU 7 30431103 30431103 single base substitution C T intron_variant MELA-AU 7 30431188 30431188 single base substitution C T intron_variant MELA-AU 7 30431401 30431401 single base substitution C T intron_variant MELA-AU 7 30431543 30431543 single base substitution C T intron_variant MELA-AU 7 30432355 30432355 single base substitution A T intron_variant MELA-AU 7 30432388 30432388 single base substitution T C intron_variant MELA-AU 7 30432397 30432397 single base substitution A G intron_variant MELA-AU 7 30432689 30432689 single base substitution C T intron_variant MELA-AU 7 30432830 30432830 single base substitution C T intron_variant MELA-AU 7 30433637 30433637 single base substitution C T intron_variant MELA-AU 7 30433808 30433808 single base substitution G T intron_variant MELA-AU 7 30434039 30434039 single base substitution G T intron_variant MELA-AU 7 30434041 30434041 single base substitution G A intron_variant MELA-AU 7 30434326 30434326 single base substitution C T intron_variant MELA-AU 7 30434380 30434380 single base substitution C T intron_variant MELA-AU 7 30434500 30434500 single base substitution C T intron_variant MELA-AU 7 30434574 30434575 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 7 30434921 30434921 single base substitution C T intron_variant MELA-AU 7 30435284 30435284 single base substitution C T intron_variant MELA-AU 7 30435522 30435523 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30435562 30435562 single base substitution C T intron_variant MELA-AU 7 30435921 30435921 single base substitution G T intron_variant MELA-AU 7 30435957 30435957 single base substitution T C intron_variant MELA-AU 7 30436298 30436298 single base substitution C T intron_variant MELA-AU 7 30436299 30436299 single base substitution C T intron_variant MELA-AU 7 30436611 30436611 single base substitution C T intron_variant MELA-AU 7 30438426 30438426 single base substitution C G intron_variant MELA-AU 7 30438822 30438822 single base substitution T C intron_variant MELA-AU 7 30438992 30438993 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 7 30439039 30439039 single base substitution C T intron_variant MELA-AU 7 30439130 30439130 single base substitution T C intron_variant MELA-AU 7 30439255 30439255 single base substitution G A intron_variant MELA-AU 7 30439646 30439646 single base substitution C T intron_variant MELA-AU 7 30441468 30441468 single base substitution C T intron_variant MELA-AU 7 30441495 30441495 single base substitution C T intron_variant MELA-AU 7 30441875 30441875 single base substitution G A intron_variant MELA-AU 7 30442413 30442413 single base substitution T G intron_variant MELA-AU 7 30442484 30442484 single base substitution C T intron_variant MELA-AU 7 30443414 30443414 single base substitution G A intron_variant MELA-AU 7 30443576 30443576 single base substitution G A intron_variant MELA-AU 7 30443720 30443720 single base substitution C T intron_variant MELA-AU 7 30443939 30443939 single base substitution G T intron_variant MELA-AU 7 30443964 30443964 single base substitution C T intron_variant MELA-AU 7 30444316 30444316 single base substitution C T intron_variant MELA-AU 7 30444602 30444602 single base substitution G T intron_variant MELA-AU 7 30444711 30444711 single base substitution C T intron_variant MELA-AU 7 30445194 30445194 single base substitution C T intron_variant MELA-AU 7 30445380 30445380 single base substitution C T intron_variant MELA-AU 7 30445861 30445861 single base substitution G A intron_variant MELA-AU 7 30445913 30445913 single base substitution C T intron_variant MELA-AU 7 30446072 30446072 single base substitution C T intron_variant MELA-AU 7 30446344 30446344 single base substitution G A intron_variant MELA-AU 7 30448038 30448038 single base substitution G A intron_variant MELA-AU 7 30448232 30448232 single base substitution C T intron_variant MELA-AU 7 30448264 30448264 single base substitution C T intron_variant MELA-AU 7 30448265 30448265 single base substitution C T intron_variant MELA-AU 7 30448509 30448509 single base substitution G A intron_variant MELA-AU 7 30448665 30448665 single base substitution C T intron_variant MELA-AU 7 30448667 30448667 single base substitution T A intron_variant MELA-AU 7 30448695 30448695 single base substitution C T intron_variant MELA-AU 7 30448931 30448931 single base substitution C T intron_variant MELA-AU 7 30449267 30449267 single base substitution T C intron_variant MELA-AU 7 30449530 30449531 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 30449618 30449618 single base substitution C T intron_variant MELA-AU 7 30449618 30449619 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30450333 30450333 single base substitution C T intron_variant MELA-AU 7 30450385 30450385 single base substitution G A intron_variant MELA-AU 7 30450519 30450519 single base substitution C T intron_variant MELA-AU 7 30450975 30450976 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 30451515 30451515 single base substitution G A splice_region_variant MELA-AU 7 30452318 30452318 single base substitution G T downstream_gene_variant MELA-AU 7 30452841 30452841 single base substitution C T downstream_gene_variant MELA-AU 7 30453594 30453594 single base substitution A C downstream_gene_variant MELA-AU 7 30453872 30453873 multiple base substitution (>=2bp and <=200bp) CC TG downstream_gene_variant MELA-AU 7 30453882 30453882 single base substitution C T downstream_gene_variant MELA-AU 7 30454111 30454111 single base substitution C G downstream_gene_variant MELA-AU 7 30454154 30454154 single base substitution C G downstream_gene_variant ORCA-IN 7 30342900 30342900 insertion of <=200bp - AA intron_variant ORCA-IN 7 30363741 30363741 single base substitution C T intron_variant ORCA-IN 7 30428700 30428700 single base substitution C T intron_variant ORCA-IN 7 30428700 30428700 single base substitution C T upstream_gene_variant ORCA-IN 7 30445773 30445773 single base substitution C T intron_variant OV-AU 7 30319877 30319877 single base substitution G C upstream_gene_variant OV-AU 7 30323997 30323997 single base substitution C G 5_prime_UTR_variant OV-AU 7 30323997 30323997 single base substitution C G upstream_gene_variant OV-AU 7 30327797 30327797 single base substitution C T intron_variant OV-AU 7 30331376 30331376 single base substitution G T downstream_gene_variant OV-AU 7 30331376 30331376 single base substitution G T intron_variant OV-AU 7 30344770 30344770 single base substitution A T intron_variant OV-AU 7 30346003 30346003 single base substitution A C intron_variant OV-AU 7 30346514 30346514 single base substitution A G intron_variant OV-AU 7 30348725 30348725 single base substitution G T intron_variant OV-AU 7 30349746 30349746 single base substitution A G intron_variant OV-AU 7 30357303 30357303 single base substitution G A intron_variant OV-AU 7 30358068 30358068 single base substitution A T intron_variant OV-AU 7 30360401 30360401 single base substitution A G intron_variant OV-AU 7 30360695 30360695 single base substitution C T intron_variant OV-AU 7 30365923 30365923 single base substitution G T intron_variant OV-AU 7 30371357 30371357 single base substitution T C intron_variant OV-AU 7 30373224 30373224 single base substitution T A intron_variant OV-AU 7 30373327 30373327 single base substitution G T intron_variant OV-AU 7 30373494 30373494 single base substitution A G intron_variant OV-AU 7 30374617 30374617 single base substitution A C intron_variant OV-AU 7 30374652 30374652 single base substitution A T intron_variant OV-AU 7 30378693 30378693 single base substitution G C intron_variant OV-AU 7 30390622 30390622 single base substitution G T intron_variant OV-AU 7 30393894 30393894 single base substitution C G intron_variant OV-AU 7 30397048 30397048 single base substitution A G intron_variant OV-AU 7 30397048 30397048 single base substitution A G upstream_gene_variant OV-AU 7 30398041 30398041 single base substitution T C intron_variant OV-AU 7 30398041 30398041 single base substitution T C upstream_gene_variant OV-AU 7 30408306 30408306 single base substitution A G downstream_gene_variant OV-AU 7 30408306 30408306 single base substitution A G intron_variant OV-AU 7 30408307 30408307 single base substitution G T downstream_gene_variant OV-AU 7 30408307 30408307 single base substitution G T intron_variant OV-AU 7 30408485 30408485 single base substitution T C downstream_gene_variant OV-AU 7 30408485 30408485 single base substitution T C intron_variant OV-AU 7 30410594 30410594 single base substitution C G downstream_gene_variant OV-AU 7 30410594 30410594 single base substitution C G intron_variant OV-AU 7 30423742 30423742 single base substitution C G intron_variant OV-AU 7 30425634 30425634 single base substitution T C intron_variant OV-AU 7 30425634 30425634 single base substitution T C upstream_gene_variant OV-AU 7 30449935 30449935 single base substitution T C intron_variant OV-AU 7 30450831 30450831 single base substitution C T intron_variant OV-AU 7 30451540 30451540 single base substitution G C 3_prime_UTR_variant OV-AU 7 30451540 30451540 single base substitution G C exon_variant OV-AU 7 30452251 30452251 single base substitution T A downstream_gene_variant PACA-AU 7 30319146 30319146 insertion of <=200bp - C upstream_gene_variant PACA-AU 7 30324111 30324111 single base substitution A G 5_prime_UTR_variant PACA-AU 7 30324111 30324111 single base substitution A G upstream_gene_variant PACA-AU 7 30337383 30337383 single base substitution C T intron_variant PACA-AU 7 30339342 30339342 single base substitution G T intron_variant PACA-AU 7 30343276 30343276 single base substitution G A intron_variant PACA-AU 7 30344470 30344470 single base substitution T G intron_variant PACA-AU 7 30350501 30350501 single base substitution T C intron_variant PACA-AU 7 30350506 30350506 single base substitution C T intron_variant PACA-AU 7 30354994 30354994 single base substitution G A intron_variant PACA-AU 7 30364175 30364175 single base substitution A G intron_variant PACA-AU 7 30368809 30368809 single base substitution T G intron_variant PACA-AU 7 30371889 30371889 single base substitution G C intron_variant PACA-AU 7 30374659 30374662 deletion of <=200bp TAAT - intron_variant PACA-AU 7 30382745 30382745 single base substitution A T intron_variant PACA-AU 7 30398771 30398771 single base substitution C G intron_variant PACA-AU 7 30398771 30398771 single base substitution C G upstream_gene_variant PACA-AU 7 30418050 30418050 single base substitution T G intron_variant PACA-AU 7 30432262 30432262 single base substitution A T intron_variant PACA-AU 7 30432382 30432382 single base substitution C T intron_variant PACA-AU 7 30432393 30432393 single base substitution A G intron_variant PACA-AU 7 30437377 30437377 deletion of <=200bp G - intron_variant PACA-AU 7 30437454 30437454 single base substitution A G intron_variant PACA-AU 7 30438261 30438261 single base substitution C A intron_variant PACA-AU 7 30444759 30444800 deletion of <=200bp AATTAACATAAGATGGACCAACCCGATTTGTTTCTTTTCTTG - intron_variant PACA-AU 7 30445773 30445773 single base substitution C T intron_variant PACA-AU 7 30446000 30446000 single base substitution G T intron_variant PACA-AU 7 30447276 30447276 single base substitution G A intron_variant PACA-AU 7 30453435 30453435 single base substitution T C downstream_gene_variant PACA-AU 7 30455744 30455744 insertion of <=200bp - TTTG downstream_gene_variant PACA-AU 7 30455796 30455796 single base substitution G C downstream_gene_variant PACA-CA 7 30319153 30319153 single base substitution G A upstream_gene_variant PACA-CA 7 30323852 30323852 single base substitution G A upstream_gene_variant PACA-CA 7 30325794 30325796 deletion of <=200bp AGG - intron_variant PACA-CA 7 30327584 30327584 single base substitution A G intron_variant PACA-CA 7 30333487 30333487 single base substitution C T downstream_gene_variant PACA-CA 7 30333487 30333487 single base substitution C T intron_variant PACA-CA 7 30333550 30333550 single base substitution T C downstream_gene_variant PACA-CA 7 30333550 30333550 single base substitution T C intron_variant PACA-CA 7 30333670 30333670 single base substitution T C intron_variant PACA-CA 7 30337491 30337491 single base substitution A G intron_variant PACA-CA 7 30340640 30340640 single base substitution C T intron_variant PACA-CA 7 30342655 30342655 single base substitution G A intron_variant PACA-CA 7 30347736 30347736 single base substitution A G intron_variant PACA-CA 7 30349481 30349481 single base substitution A G intron_variant PACA-CA 7 30356185 30356185 single base substitution T A intron_variant PACA-CA 7 30357126 30357126 single base substitution C G intron_variant PACA-CA 7 30360595 30360595 single base substitution T C intron_variant PACA-CA 7 30361727 30361727 single base substitution C A intron_variant PACA-CA 7 30362156 30362156 single base substitution G A intron_variant PACA-CA 7 30363353 30363353 single base substitution G A missense_variant E189K 565G>A PACA-CA 7 30364176 30364176 single base substitution G A intron_variant PACA-CA 7 30364937 30364937 deletion of <=200bp G - intron_variant PACA-CA 7 30365255 30365255 single base substitution C A intron_variant PACA-CA 7 30366362 30366362 deletion of <=200bp C - intron_variant PACA-CA 7 30366464 30366464 single base substitution T A intron_variant PACA-CA 7 30367191 30367216 deletion of <=200bp AATTTTAAATATTTAACAGTATTTCA - intron_variant PACA-CA 7 30369135 30369135 deletion of <=200bp T - intron_variant PACA-CA 7 30372913 30372913 single base substitution G A intron_variant PACA-CA 7 30374825 30374825 single base substitution T C intron_variant PACA-CA 7 30377917 30377917 single base substitution C G intron_variant PACA-CA 7 30378739 30378739 insertion of <=200bp - T intron_variant PACA-CA 7 30379022 30379022 single base substitution A T intron_variant PACA-CA 7 30380074 30380074 single base substitution G T intron_variant PACA-CA 7 30380814 30380814 insertion of <=200bp - T intron_variant PACA-CA 7 30385146 30385148 deletion of <=200bp CTT - intron_variant PACA-CA 7 30385779 30385781 deletion of <=200bp AAG - intron_variant PACA-CA 7 30393468 30393468 single base substitution A C intron_variant PACA-CA 7 30399885 30399885 single base substitution G T intron_variant PACA-CA 7 30399885 30399885 single base substitution G T upstream_gene_variant PACA-CA 7 30401415 30401415 single base substitution C T intron_variant PACA-CA 7 30401415 30401415 single base substitution C T upstream_gene_variant PACA-CA 7 30406296 30406296 single base substitution G A 3_prime_UTR_variant PACA-CA 7 30406296 30406296 single base substitution G A intron_variant PACA-CA 7 30407482 30407482 insertion of <=200bp - T downstream_gene_variant PACA-CA 7 30407482 30407482 insertion of <=200bp - T intron_variant PACA-CA 7 30408895 30408895 single base substitution C T downstream_gene_variant PACA-CA 7 30408895 30408895 single base substitution C T intron_variant PACA-CA 7 30412198 30412198 single base substitution G T downstream_gene_variant PACA-CA 7 30412198 30412198 single base substitution G T intron_variant PACA-CA 7 30415543 30415543 single base substitution A G intron_variant PACA-CA 7 30420188 30420188 insertion of <=200bp - T intron_variant PACA-CA 7 30422445 30422445 single base substitution C T intron_variant PACA-CA 7 30423192 30423192 single base substitution A T intron_variant PACA-CA 7 30426461 30426461 single base substitution G A intron_variant PACA-CA 7 30426461 30426461 single base substitution G A upstream_gene_variant PACA-CA 7 30427221 30427221 single base substitution G A intron_variant PACA-CA 7 30427221 30427221 single base substitution G A upstream_gene_variant PACA-CA 7 30428874 30428874 single base substitution C T intron_variant PACA-CA 7 30428874 30428874 single base substitution C T upstream_gene_variant PACA-CA 7 30431209 30431209 single base substitution T C intron_variant PACA-CA 7 30431695 30431695 single base substitution C A intron_variant PACA-CA 7 30432572 30432572 single base substitution A G intron_variant PACA-CA 7 30432789 30432789 single base substitution G A intron_variant PACA-CA 7 30434690 30434690 single base substitution T G intron_variant PACA-CA 7 30436542 30436542 deletion of <=200bp A - intron_variant PACA-CA 7 30441019 30441019 single base substitution G T intron_variant PACA-CA 7 30445416 30445416 single base substitution G A intron_variant PACA-CA 7 30445683 30445683 deletion of <=200bp T - intron_variant PACA-CA 7 30448675 30448675 insertion of <=200bp - C intron_variant PACA-CA 7 30455758 30455758 single base substitution T C downstream_gene_variant PAEN-AU 7 30352379 30352379 single base substitution T G intron_variant PAEN-AU 7 30418844 30418844 single base substitution T G intron_variant PAEN-AU 7 30457041 30457041 single base substitution C A downstream_gene_variant PAEN-IT 7 30362379 30362379 single base substitution C A intron_variant PAEN-IT 7 30373965 30373965 single base substitution C T intron_variant PBCA-DE 7 30319649 30319649 deletion of <=200bp G - upstream_gene_variant PBCA-DE 7 30342746 30342747 deletion of <=200bp AC - intron_variant PBCA-DE 7 30348991 30348991 single base substitution T C intron_variant PBCA-DE 7 30351696 30351696 single base substitution G T intron_variant PBCA-DE 7 30352721 30352721 single base substitution G T intron_variant PBCA-DE 7 30356269 30356269 single base substitution C A intron_variant PBCA-DE 7 30361629 30361629 deletion of <=200bp A - intron_variant PBCA-DE 7 30363849 30363849 single base substitution G T intron_variant PBCA-DE 7 30371530 30371530 single base substitution G T intron_variant PBCA-DE 7 30373673 30373673 insertion of <=200bp - T intron_variant PBCA-DE 7 30379639 30379639 single base substitution T C intron_variant PBCA-DE 7 30388796 30388796 single base substitution G A intron_variant PBCA-DE 7 30389996 30389996 single base substitution G C intron_variant PBCA-DE 7 30403375 30403375 deletion of <=200bp T - intron_variant PBCA-DE 7 30412389 30412389 single base substitution T A intron_variant PBCA-DE 7 30421103 30421103 single base substitution G C intron_variant PBCA-DE 7 30442142 30442148 deletion of <=200bp TCCAATA - intron_variant PBCA-DE 7 30444167 30444167 single base substitution C A intron_variant PRAD-CA 7 30327496 30327496 single base substitution G A intron_variant PRAD-CA 7 30334668 30334668 single base substitution T A intron_variant PRAD-CA 7 30361916 30361916 single base substitution C G intron_variant PRAD-CA 7 30380404 30380404 single base substitution A G intron_variant PRAD-CA 7 30392992 30392992 single base substitution G A intron_variant PRAD-CA 7 30397377 30397377 single base substitution C T intron_variant PRAD-CA 7 30397377 30397377 single base substitution C T upstream_gene_variant PRAD-CA 7 30404124 30404124 single base substitution T C intron_variant PRAD-CA 7 30416101 30416101 single base substitution G A intron_variant PRAD-CA 7 30432485 30432485 single base substitution C T intron_variant PRAD-CA 7 30432598 30432598 single base substitution G T intron_variant PRAD-CA 7 30432667 30432667 single base substitution A G intron_variant PRAD-UK 7 30321375 30321375 single base substitution T C upstream_gene_variant PRAD-UK 7 30342228 30342228 single base substitution A G intron_variant PRAD-UK 7 30352644 30352644 single base substitution G A intron_variant PRAD-UK 7 30353684 30353684 single base substitution A G intron_variant PRAD-UK 7 30364527 30364527 single base substitution A C intron_variant PRAD-UK 7 30369202 30369202 single base substitution C A intron_variant PRAD-UK 7 30382418 30382418 single base substitution G T intron_variant PRAD-UK 7 30382813 30382813 single base substitution C T intron_variant PRAD-UK 7 30392913 30392913 single base substitution T G intron_variant PRAD-UK 7 30392937 30392937 single base substitution A G intron_variant PRAD-UK 7 30396449 30396449 single base substitution G A intron_variant PRAD-UK 7 30405294 30405294 single base substitution C T intron_variant PRAD-UK 7 30405480 30405480 single base substitution G T intron_variant PRAD-UK 7 30408486 30408486 single base substitution C T downstream_gene_variant PRAD-UK 7 30408486 30408486 single base substitution C T intron_variant PRAD-UK 7 30423428 30423428 single base substitution T A intron_variant PRAD-UK 7 30426397 30426397 single base substitution A G intron_variant PRAD-UK 7 30426397 30426397 single base substitution A G upstream_gene_variant PRAD-UK 7 30441954 30441954 single base substitution G C intron_variant PRAD-UK 7 30446400 30446400 single base substitution T G intron_variant PRAD-UK 7 30455744 30455744 insertion of <=200bp - TTTG downstream_gene_variant PRAD-UK 7 30457063 30457063 single base substitution T C downstream_gene_variant PRAD-US 7 30395399 30395399 single base substitution G A synonymous_variant Q207Q 621G>A PRAD-US 7 30402036 30402036 single base substitution C A exon_variant PRAD-US 7 30402036 30402036 single base substitution C A missense_variant H239N 715C>A RECA-EU 7 30321521 30321521 single base substitution G T upstream_gene_variant RECA-EU 7 30336059 30336059 single base substitution C T intron_variant RECA-EU 7 30337256 30337256 single base substitution A G intron_variant RECA-EU 7 30346950 30346950 single base substitution T G intron_variant RECA-EU 7 30350028 30350028 single base substitution A C intron_variant RECA-EU 7 30352341 30352341 single base substitution A G intron_variant RECA-EU 7 30357255 30357255 single base substitution G A intron_variant RECA-EU 7 30368321 30368321 single base substitution G A intron_variant RECA-EU 7 30371757 30371757 single base substitution T A intron_variant RECA-EU 7 30382661 30382661 single base substitution G T intron_variant RECA-EU 7 30387253 30387253 single base substitution C T intron_variant RECA-EU 7 30387305 30387305 single base substitution A G intron_variant RECA-EU 7 30412493 30412493 single base substitution T A intron_variant RECA-EU 7 30422396 30422396 single base substitution G C intron_variant RECA-EU 7 30431915 30431915 single base substitution A T intron_variant RECA-EU 7 30440786 30440786 single base substitution C A intron_variant SKCA-BR 7 30324133 30324133 single base substitution G A 5_prime_UTR_variant SKCA-BR 7 30324133 30324133 single base substitution G A upstream_gene_variant SKCA-BR 7 30324180 30324180 single base substitution A G 5_prime_UTR_variant SKCA-BR 7 30324180 30324180 single base substitution A G upstream_gene_variant SKCA-BR 7 30324186 30324186 single base substitution C G 5_prime_UTR_variant SKCA-BR 7 30324186 30324186 single base substitution C G upstream_gene_variant SKCA-BR 7 30324298 30324298 single base substitution A C 5_prime_UTR_variant SKCA-BR 7 30324298 30324298 single base substitution A C upstream_gene_variant SKCA-BR 7 30324588 30324588 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 7 30324588 30324588 single base substitution C T upstream_gene_variant SKCA-BR 7 30324965 30324965 single base substitution A G 5_prime_UTR_variant SKCA-BR 7 30324965 30324965 single base substitution A G upstream_gene_variant SKCA-BR 7 30327148 30327148 single base substitution G A intron_variant SKCA-BR 7 30327382 30327382 single base substitution C G intron_variant SKCA-BR 7 30329181 30329181 single base substitution A C downstream_gene_variant SKCA-BR 7 30329181 30329181 single base substitution A C intron_variant SKCA-BR 7 30334664 30334668 deletion of <=200bp AGAGT - intron_variant SKCA-BR 7 30334666 30334666 insertion of <=200bp - AGAGAGAGT intron_variant SKCA-BR 7 30336615 30336615 single base substitution T C intron_variant SKCA-BR 7 30339392 30339392 insertion of <=200bp - CT intron_variant SKCA-BR 7 30341315 30341315 insertion of <=200bp - TA intron_variant SKCA-BR 7 30342157 30342157 insertion of <=200bp - GT intron_variant SKCA-BR 7 30342879 30342879 insertion of <=200bp - CA intron_variant SKCA-BR 7 30344439 30344439 single base substitution A C intron_variant SKCA-BR 7 30345846 30345846 single base substitution G A intron_variant SKCA-BR 7 30346950 30346950 single base substitution T G intron_variant SKCA-BR 7 30346979 30346979 single base substitution A G intron_variant SKCA-BR 7 30349841 30349841 single base substitution G A intron_variant SKCA-BR 7 30350836 30350836 single base substitution C T intron_variant SKCA-BR 7 30352357 30352357 single base substitution G T intron_variant SKCA-BR 7 30352821 30352821 single base substitution T G intron_variant SKCA-BR 7 30354362 30354362 single base substitution C T intron_variant SKCA-BR 7 30356847 30356847 single base substitution G C intron_variant SKCA-BR 7 30363249 30363249 insertion of <=200bp - GT intron_variant SKCA-BR 7 30365032 30365032 single base substitution G A intron_variant SKCA-BR 7 30366191 30366191 single base substitution G A intron_variant SKCA-BR 7 30375084 30375084 single base substitution C T intron_variant SKCA-BR 7 30378037 30378037 single base substitution T C intron_variant SKCA-BR 7 30378049 30378049 single base substitution A C intron_variant SKCA-BR 7 30379754 30379754 single base substitution G A intron_variant SKCA-BR 7 30381394 30381394 single base substitution T G intron_variant SKCA-BR 7 30381979 30381979 single base substitution T G intron_variant SKCA-BR 7 30381990 30381990 single base substitution C T intron_variant SKCA-BR 7 30381995 30381995 single base substitution C T intron_variant SKCA-BR 7 30386386 30386386 single base substitution G A intron_variant SKCA-BR 7 30396315 30396316 deletion of <=200bp AT - intron_variant SKCA-BR 7 30402123 30402123 single base substitution C T intron_variant SKCA-BR 7 30404725 30404725 single base substitution T C intron_variant SKCA-BR 7 30404788 30404788 single base substitution T G intron_variant SKCA-BR 7 30412408 30412409 deletion of <=200bp CA - intron_variant SKCA-BR 7 30420458 30420458 single base substitution A C intron_variant SKCA-BR 7 30421230 30421230 single base substitution C T intron_variant SKCA-BR 7 30424151 30424151 single base substitution T G intron_variant SKCA-BR 7 30426407 30426407 single base substitution G A intron_variant SKCA-BR 7 30426407 30426407 single base substitution G A upstream_gene_variant SKCA-BR 7 30429419 30429419 single base substitution A C intron_variant SKCA-BR 7 30429419 30429419 single base substitution A C upstream_gene_variant SKCA-BR 7 30431443 30431443 single base substitution T C intron_variant SKCA-BR 7 30432291 30432310 deletion of <=200bp TATATATATATATATGTCAA - intron_variant SKCA-BR 7 30432529 30432529 single base substitution T C intron_variant SKCA-BR 7 30432554 30432554 single base substitution T C intron_variant SKCA-BR 7 30432556 30432559 deletion of <=200bp TGGC - intron_variant SKCA-BR 7 30432618 30432618 insertion of <=200bp - CAT intron_variant SKCA-BR 7 30434300 30434301 deletion of <=200bp CT - intron_variant SKCA-BR 7 30435944 30435944 single base substitution C T intron_variant SKCA-BR 7 30439611 30439611 single base substitution C T intron_variant SKCA-BR 7 30440201 30440201 single base substitution C T intron_variant SKCA-BR 7 30442615 30442615 single base substitution C T intron_variant SKCA-BR 7 30444141 30444141 single base substitution C T intron_variant SKCA-BR 7 30452624 30452624 single base substitution G A downstream_gene_variant SKCA-BR 7 30456120 30456120 single base substitution C T downstream_gene_variant STAD-US 7 30363271 30363271 single base substitution T G synonymous_variant P161P 483T>G STAD-US 7 30363339 30363339 single base substitution G A missense_variant R184Q 551G>A STAD-US 7 30395357 30395357 single base substitution T C synonymous_variant S193S 579T>C UCEC-US 7 30363282 30363282 single base substitution A C missense_variant K165T 494A>C UCEC-US 7 30402025 30402025 single base substitution C A exon_variant UCEC-US 7 30402025 30402025 single base substitution C A missense_variant S235Y 704C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-C5-A1BQ-01 COSM4842232 c.712G>C p.E238Q Substitution - Missense 7:30362417-30362417 + PCSI0073 COSM1158587 c.565G>A p.E189K Substitution - Missense 7:30323737-30323737 + TCGA-G9-7510-01 COSM3784071 c.621G>A p.Q207Q Substitution - coding silent 7:30355783-30355783 + PCSI_0073_Pa_X COSM1158587 c.565G>A p.E189K Substitution - Missense 7:30323737-30323737 + TCGA-66-2785-01 COSM746243 c.682G>C p.E228Q Substitution - Missense 7:30362387-30362387 + PCSI_0073_Pa_P_526 COSM1158587 c.565G>A p.E189K Substitution - Missense 7:30323737-30323737 + PTC-53C COSM4162162 c.42C>T p.R14R Substitution - coding silent 7:30285399-30285399 + TCGA-BR-4280-01 COSM3880534 c.579T>C p.S193S Substitution - coding silent 7:30355741-30355741 + C008 COSM5524304 c.557C>T p.T186I Substitution - Missense 7:30323729-30323729 + BD6T COSM5498960 c.470-8_470-7insT p.? Unknown 7:30323634-30323635 + TCGA-CG-5733-01 COSM3880533 c.551G>A p.R184Q Substitution - Missense 7:30323723-30323723 + CHC1725T COSM4800703 c.443C>T p.A148V Substitution - Missense 7:30285800-30285800 + HCC152T COSM5807154 c.634A>G p.I212V Substitution - Missense 7:30355796-30355796 + CHC1725T COSM4800703 c.443C>T p.A148V Substitution - Missense 7:30285800-30285800 + PM-2 COSM5619797 c.368_369insCGG p.G127_R128insG Insertion - In frame 7:30285725-30285726 + CHC923T COSM4801400 c.658A>G p.I220V Substitution - Missense 7:30355820-30355820 + Pat_05_A COSM5872579 c.580_581delAA p.K194fs*10 Deletion - Frameshift 7:30355742-30355743 + TCGA-A5-A0GH-01 COSM1089059 c.704C>A p.S235Y Substitution - Missense 7:30362409-30362409 + RMS85_ COSM4987810 c.178A>G p.S60G Substitution - Missense 7:30285535-30285535 + TCGA-A2-A0CX-01 COSM452952 c.511G>A p.E171K Substitution - Missense 7:30323683-30323683 + TCGA-37-4135-01 COSM746244 c.551G>T p.R184L Substitution - Missense 7:30323723-30323723 + PCSI_0073_Pa_P COSM1158587 c.565G>A p.E189K Substitution - Missense 7:30323737-30323737 + TCGA-D1-A103-01 COSM1089058 c.494A>C p.K165T Substitution - Missense 7:30323666-30323666 + CHC923T COSM4801400 c.658A>G p.I220V Substitution - Missense 7:30355820-30355820 + TCGA-CG-5726-01 COSM3880532 c.483T>G p.P161P Substitution - coding silent 7:30323655-30323655 + CSCC-16-T COSM4503752 c.647C>T p.P216L Substitution - Missense 7:30355809-30355809 + S02273 COSM5682196 c.198G>A p.A66A Substitution - coding silent 7:30285555-30285555 + RMS112_ COSM4987810 c.178A>G p.S60G Substitution - Missense 7:30285535-30285535 + SNU-C2B COSM3028158 c.618G>A p.L206L Substitution - coding silent 7:30355780-30355780 + HCT-116 COSM1673083 c.637G>A p.A213T Substitution - Missense 7:30355799-30355799 + TCGA-EJ-5496-01 COSM1131602 c.715C>A p.H239N Substitution - Missense 7:30362420-30362420 + 1 COSM5731882 c.726T>G p.D242E Substitution - Missense 7:30362431-30362431 + HCT116 COSM1673083 c.637G>A p.A213T Substitution - Missense 7:30355799-30355799 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.263832;Hs.263912 7p14.3 612061

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.H239N c.715C>A 7 30402036 PRAD C A Missense p.S235Y c.704C>A 7 30402025 UCEC C G Missense p.P237R c.710C>G 7 30402031 CM G A IntronicSNV . c.469+3996G>A 7 30329438 BLCA G A IntronicSNV . c.469+4023G>A 7 30329465 LUSC G A Missense p.E171K c.511G>A 7 30363299 BRCA G A Missense p.R184Q c.551G>A 7 30363339 STAD G - Frameshift p.G157Dfs*21 c.469+1delG 7 30325442 LGG G T 3-UTRSNV . c.726+25G>T 7 30402072 CM G T IntronicSNV . c.469+4027G>T 7 30329469 LUSC G T Missense p.R184L c.551G>T 7 30363339 LUSC T C IntronicSNV . c.470-7792T>C 7 30355466 CLL T C Synonymous p.S193S c.579T>C 7 30395357 STAD T G IntronicSNV . c.469+7440T>G 7 30332882 CLL T G Synonymous p.P161P c.483T>G 7 30363271 STAD TGT - IntronicDeletion . c.469+4018_469+4020delTGT 7 30329454 BRCA