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 66103995 66103995 + Missense_Mutation SNP G G A TCGA-GU-AATO-01A-11D-A391-08 TCGA-GU-AATO-10A-01D-A394-08 g.chr7:66103995G>A c.646G>A c.(646-648)Gag>Aag p.E216K BRCA 7 66103260 66103260 + Missense_Mutation SNP G G T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 g.chr7:66103260G>T c.335G>T c.(334-336)cGc>cTc p.R112L CESC 7 66098334 66098334 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr7:66098334G>A c.217G>A c.(217-219)Gaa>Aaa p.E73K COAD 7 66098328 66098328 + Missense_Mutation SNP T T C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr7:66098328T>C c.211T>C c.(211-213)Tgc>Cgc p.C71R COAD 7 66103262 66103262 + Missense_Mutation SNP T T A TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr7:66103262T>A c.337T>A c.(337-339)Tca>Aca p.S113T COAD 7 66103878 66103878 + Missense_Mutation SNP C C T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr7:66103878C>T c.529C>T c.(529-531)Cgt>Tgt p.R177C COAD 7 66104185 66104185 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:66104185G>A c.836G>A c.(835-837)cGc>cAc p.R279H COAD 7 66104190 66104190 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr7:66104190A>G c.841A>G c.(841-843)Atc>Gtc p.I281V COADREAD 7 66098328 66098328 + Missense_Mutation SNP T T C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr7:66098328T>C c.211T>C c.(211-213)Tgc>Cgc p.C71R COADREAD 7 66103262 66103262 + Missense_Mutation SNP T T A TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr7:66103262T>A c.337T>A c.(337-339)Tca>Aca p.S113T COADREAD 7 66103878 66103878 + Missense_Mutation SNP C C T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr7:66103878C>T c.529C>T c.(529-531)Cgt>Tgt p.R177C COADREAD 7 66104185 66104185 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:66104185G>A c.836G>A c.(835-837)cGc>cAc p.R279H COADREAD 7 66104190 66104190 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr7:66104190A>G c.841A>G c.(841-843)Atc>Gtc p.I281V DLBC 7 66094184 66094184 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr7:66094184C>T c.133C>T c.(133-135)Ctg>Ttg p.L45L ESCA 7 66103973 66103973 + Silent SNP C C T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr7:66103973C>T c.624C>T c.(622-624)aaC>aaT p.N208N ESCA 7 66104098 66104098 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 g.chr7:66104098C>T c.749C>T c.(748-750)aCg>aTg p.T250M ESCA 7 66104124 66104124 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr7:66104124G>T c.775G>T c.(775-777)Gtg>Ttg p.V259L GBMLGG 7 66104046 66104046 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:66104046G>T c.697G>T c.(697-699)Ggg>Tgg p.G233W GBMLGG 7 66104145 66104145 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 g.chr7:66104145G>A c.796G>A c.(796-798)Gtg>Atg p.V266M HNSC 7 66103260 66103260 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 g.chr7:66103260G>A c.335G>A c.(334-336)cGc>cAc p.R112H KIPAN 7 66103318 66103318 + Nonsense_Mutation SNP C C G TCGA-CJ-5675-01A-11D-1534-10 TCGA-CJ-5675-11A-01D-1534-10 g.chr7:66103318C>G c.393C>G c.(391-393)taC>taG p.Y131* KIPAN 7 66103373 66103373 + Missense_Mutation SNP G G A TCGA-B3-A6W5-01A-12D-A33Q-10 TCGA-B3-A6W5-10A-01D-A33Q-10 g.chr7:66103373G>A c.448G>A c.(448-450)Gag>Aag p.E150K KIPAN 7 66103415 66103415 + Missense_Mutation SNP A A G TCGA-BP-5177-01A-01D-1429-08 TCGA-BP-5177-11A-01D-1429-08 g.chr7:66103415A>G c.490A>G c.(490-492)Aaa>Gaa p.K164E KIRC 7 66103318 66103318 + Nonsense_Mutation SNP C C G TCGA-CJ-5675-01A-11D-1534-10 TCGA-CJ-5675-11A-01D-1534-10 g.chr7:66103318C>G c.393C>G c.(391-393)taC>taG p.Y131* KIRC 7 66103415 66103415 + Missense_Mutation SNP A A G TCGA-BP-5177-01A-01D-1429-08 TCGA-BP-5177-11A-01D-1429-08 g.chr7:66103415A>G c.490A>G c.(490-492)Aaa>Gaa p.K164E KIRP 7 66103373 66103373 + Missense_Mutation SNP G G A TCGA-B3-A6W5-01A-12D-A33Q-10 TCGA-B3-A6W5-10A-01D-A33Q-10 g.chr7:66103373G>A c.448G>A c.(448-450)Gag>Aag p.E150K LGG 7 66104046 66104046 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:66104046G>T c.697G>T c.(697-699)Ggg>Tgg p.G233W LGG 7 66104145 66104145 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 g.chr7:66104145G>A c.796G>A c.(796-798)Gtg>Atg p.V266M LIHC 7 66098342 66098342 + Silent SNP C C T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr7:66098342C>T c.225C>T c.(223-225)acC>acT p.T75T LUAD 7 66098289 66098289 + Nonsense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr7:66098289G>T c.172G>T c.(172-174)Gga>Tga p.G58* LUAD 7 66098317 66098317 + Missense_Mutation SNP C C A TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr7:66098317C>A c.200C>A c.(199-201)tCc>tAc p.S67Y LUAD 7 66103260 66103260 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 g.chr7:66103260G>A c.335G>A c.(334-336)cGc>cAc p.R112H LUAD 7 66103309 66103309 + Silent SNP G G A TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr7:66103309G>A c.384G>A c.(382-384)gaG>gaA p.E128E LUAD 7 66104113 66104113 + Missense_Mutation SNP A A T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr7:66104113A>T c.764A>T c.(763-765)cAg>cTg p.Q255L LUAD 7 66104162 66104162 + Silent SNP C C T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 g.chr7:66104162C>T c.813C>T c.(811-813)ctC>ctT p.L271L LUSC 7 66103962 66103962 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:66103962C>T c.613C>T c.(613-615)Ccg>Tcg p.P205S LUSC 7 66103967 66103967 + Silent SNP C C G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr7:66103967C>G c.618C>G c.(616-618)ctC>ctG p.L206L LUSC 7 66104107 66104107 + Missense_Mutation SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr7:66104107C>T c.758C>T c.(757-759)tCg>tTg p.S253L OV 7 66103879 66103879 + Missense_Mutation SNP G G A TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 g.chr7:66103879G>A c.530G>A c.(529-531)cGt>cAt p.R177H OV 7 66104165 66104165 + Silent SNP G G C TCGA-13-0916-01A-01W-0420-08 TCGA-13-0916-10A-01D-0399-08 g.chr7:66104165G>C c.816G>C c.(814-816)gtG>gtC p.V272V PAAD 7 66103879 66103879 + Missense_Mutation SNP G G A TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr7:66103879G>A c.530G>A c.(529-531)cGt>cAt p.R177H PRAD 7 66103989 66103989 + Missense_Mutation SNP C C T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 g.chr7:66103989C>T c.640C>T c.(640-642)Cgg>Tgg p.R214W SKCM 7 66098385 66098385 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr7:66098385G>A c.268G>A c.(268-270)Gac>Aac p.D90N SKCM 7 66103255 66103255 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr7:66103255C>T c.330C>T c.(328-330)ttC>ttT p.F110F SKCM 7 66103274 66103274 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr7:66103274C>T c.349C>T c.(349-351)Cca>Tca p.P117S SKCM 7 66104087 66104087 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr7:66104087C>T c.738C>T c.(736-738)caC>caT p.H246H SKCM 7 66104168 66104168 + Silent SNP C C T TCGA-D3-A3CE-06A-11D-A19A-08 TCGA-D3-A3CE-10A-01D-A19A-08 g.chr7:66104168C>T c.819C>T c.(817-819)aaC>aaT p.N273N SKCM 7 66104169 66104169 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr7:66104169C>T c.820C>T c.(820-822)Cac>Tac p.H274Y SKCM 7 66104188 66104188 + Missense_Mutation SNP C C T TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr7:66104188C>T c.839C>T c.(838-840)cCc>cTc p.P280L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 7 66104196 66104196 single base substitution G C downstream_gene_variant BLCA-CN 7 66104196 66104196 single base substitution G C intron_variant BLCA-CN 7 66104196 66104196 single base substitution G C missense_variant E283Q 847G>C BLCA-US 7 66240337 66240337 single base substitution G A 3_prime_UTR_variant BLCA-US 7 66240337 66240337 single base substitution G A synonymous_variant V101V 303G>A BLCA-US 7 66240337 66240337 single base substitution G A synonymous_variant V141V 423G>A BLCA-US 7 66270179 66270179 single base substitution C T 3_prime_UTR_variant BLCA-US 7 66270179 66270179 single base substitution C T synonymous_variant I291I 873C>T BLCA-US 7 66270179 66270179 single base substitution C T synonymous_variant I331I 993C>T BLCA-US 7 66273984 66273984 single base substitution G A 3_prime_UTR_variant BLCA-US 7 66273984 66273984 single base substitution G A missense_variant E397K 1189G>A BLCA-US 7 66273984 66273984 single base substitution G A missense_variant E437K 1309G>A BLCA-US 7 66274059 66274059 single base substitution G C 3_prime_UTR_variant BLCA-US 7 66274059 66274059 single base substitution G C missense_variant E422Q 1264G>C BLCA-US 7 66274059 66274059 single base substitution G C missense_variant E462Q 1384G>C BOCA-FR 7 66199123 66199123 single base substitution T G intron_variant BOCA-FR 7 66212329 66212329 single base substitution G A intron_variant BRCA-EU 7 66089499 66089499 single base substitution C T upstream_gene_variant BRCA-EU 7 66090541 66090541 single base substitution A C upstream_gene_variant BRCA-EU 7 66092906 66092906 single base substitution C G upstream_gene_variant BRCA-EU 7 66093193 66093193 single base substitution G A upstream_gene_variant BRCA-EU 7 66094364 66094364 single base substitution T A intron_variant BRCA-EU 7 66094574 66094574 single base substitution G A intron_variant BRCA-EU 7 66096110 66096110 single base substitution C G intron_variant BRCA-EU 7 66097889 66097889 insertion of <=200bp - A intron_variant BRCA-EU 7 66098237 66098237 single base substitution G C intron_variant BRCA-EU 7 66098531 66098531 single base substitution A G intron_variant BRCA-EU 7 66099906 66099906 single base substitution G T intron_variant BRCA-EU 7 66102582 66102582 single base substitution A G intron_variant BRCA-EU 7 66103724 66103724 single base substitution C T intron_variant BRCA-EU 7 66104740 66104740 single base substitution C A 3_prime_UTR_variant BRCA-EU 7 66104740 66104740 single base substitution C A downstream_gene_variant BRCA-EU 7 66104740 66104740 single base substitution C A intron_variant BRCA-EU 7 66104910 66104910 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 66104910 66104910 single base substitution C T downstream_gene_variant BRCA-EU 7 66104910 66104910 single base substitution C T intron_variant BRCA-EU 7 66105543 66105543 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 66105543 66105543 single base substitution C G downstream_gene_variant BRCA-EU 7 66105543 66105543 single base substitution C G intron_variant BRCA-EU 7 66106455 66106455 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 66106455 66106455 single base substitution G C downstream_gene_variant BRCA-EU 7 66106455 66106455 single base substitution G C intron_variant BRCA-EU 7 66107147 66107147 single base substitution A C 3_prime_UTR_variant BRCA-EU 7 66107147 66107147 single base substitution A C downstream_gene_variant BRCA-EU 7 66107147 66107147 single base substitution A C intron_variant BRCA-EU 7 66109612 66109612 single base substitution G C downstream_gene_variant BRCA-EU 7 66109612 66109612 single base substitution G C intron_variant BRCA-EU 7 66111285 66111285 single base substitution G A downstream_gene_variant BRCA-EU 7 66111285 66111285 single base substitution G A intron_variant BRCA-EU 7 66112062 66112062 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 66112062 66112062 deletion of <=200bp T - intron_variant BRCA-EU 7 66113094 66113094 single base substitution G A intron_variant BRCA-EU 7 66113930 66113930 single base substitution G T intron_variant BRCA-EU 7 66114489 66114489 single base substitution G C intron_variant BRCA-EU 7 66114919 66114919 single base substitution C T intron_variant BRCA-EU 7 66116288 66116288 single base substitution C T intron_variant BRCA-EU 7 66116362 66116362 single base substitution C T intron_variant BRCA-EU 7 66116511 66116511 single base substitution T C intron_variant BRCA-EU 7 66117373 66117373 deletion of <=200bp A - intron_variant BRCA-EU 7 66119477 66119477 single base substitution A T intron_variant BRCA-EU 7 66119595 66119595 single base substitution C T intron_variant BRCA-EU 7 66119599 66119599 single base substitution G A intron_variant BRCA-EU 7 66119645 66119645 single base substitution C T intron_variant BRCA-EU 7 66121057 66121057 single base substitution A G intron_variant BRCA-EU 7 66122495 66122495 single base substitution T G intron_variant BRCA-EU 7 66122808 66122808 deletion of <=200bp A - intron_variant BRCA-EU 7 66124347 66124347 single base substitution G C intron_variant BRCA-EU 7 66124910 66124910 single base substitution A G intron_variant BRCA-EU 7 66125432 66125432 single base substitution C G intron_variant BRCA-EU 7 66126583 66126583 single base substitution C T intron_variant BRCA-EU 7 66126997 66126997 single base substitution G A intron_variant BRCA-EU 7 66128185 66128185 single base substitution T G intron_variant BRCA-EU 7 66130747 66130747 single base substitution G C intron_variant BRCA-EU 7 66131453 66131453 single base substitution A C intron_variant BRCA-EU 7 66132191 66132191 single base substitution G C intron_variant BRCA-EU 7 66132333 66132333 single base substitution C T intron_variant BRCA-EU 7 66134357 66134357 single base substitution C T intron_variant BRCA-EU 7 66134496 66134496 single base substitution C G intron_variant BRCA-EU 7 66135285 66135285 single base substitution C T intron_variant BRCA-EU 7 66135703 66135703 single base substitution C T intron_variant BRCA-EU 7 66137116 66137116 insertion of <=200bp - A intron_variant BRCA-EU 7 66139182 66139182 single base substitution T C intron_variant BRCA-EU 7 66140418 66140418 insertion of <=200bp - A intron_variant BRCA-EU 7 66142117 66142117 single base substitution C A intron_variant BRCA-EU 7 66142953 66142953 single base substitution G A intron_variant BRCA-EU 7 66143453 66143453 single base substitution G A intron_variant BRCA-EU 7 66143868 66143869 deletion of <=200bp TG - intron_variant BRCA-EU 7 66144724 66144724 single base substitution G T intron_variant BRCA-EU 7 66145843 66145843 single base substitution C T intron_variant BRCA-EU 7 66146501 66146501 single base substitution T G intron_variant BRCA-EU 7 66147574 66147574 single base substitution C T intron_variant BRCA-EU 7 66148151 66148151 single base substitution G A intron_variant BRCA-EU 7 66148834 66148834 single base substitution C A intron_variant BRCA-EU 7 66149476 66149476 single base substitution C A intron_variant BRCA-EU 7 66149811 66149811 single base substitution C T intron_variant BRCA-EU 7 66151176 66151176 single base substitution A G intron_variant BRCA-EU 7 66151326 66151326 single base substitution G C intron_variant BRCA-EU 7 66152486 66152487 deletion of <=200bp AG - intron_variant BRCA-EU 7 66153184 66153184 single base substitution G A intron_variant BRCA-EU 7 66153589 66153589 single base substitution A T intron_variant BRCA-EU 7 66155308 66155308 single base substitution G C intron_variant BRCA-EU 7 66155688 66155688 single base substitution A G intron_variant BRCA-EU 7 66155848 66155848 single base substitution G T intron_variant BRCA-EU 7 66157768 66157768 single base substitution A G intron_variant BRCA-EU 7 66158090 66158090 single base substitution G A intron_variant BRCA-EU 7 66160774 66160774 single base substitution G A intron_variant BRCA-EU 7 66160784 66160784 single base substitution C A intron_variant BRCA-EU 7 66162474 66162474 single base substitution C T intron_variant BRCA-EU 7 66162482 66162485 deletion of <=200bp CCTT - intron_variant BRCA-EU 7 66163538 66163538 single base substitution G A intron_variant BRCA-EU 7 66165010 66165010 single base substitution C T intron_variant BRCA-EU 7 66167599 66167599 single base substitution C G intron_variant BRCA-EU 7 66168536 66168536 single base substitution G C intron_variant BRCA-EU 7 66168608 66168608 deletion of <=200bp T - intron_variant BRCA-EU 7 66169622 66169622 single base substitution C T intron_variant BRCA-EU 7 66170156 66170156 single base substitution G C intron_variant BRCA-EU 7 66170301 66170301 single base substitution G T intron_variant BRCA-EU 7 66171933 66171933 single base substitution T A intron_variant BRCA-EU 7 66172623 66172623 single base substitution C T intron_variant BRCA-EU 7 66172643 66172643 single base substitution C G intron_variant BRCA-EU 7 66173732 66173732 single base substitution G T intron_variant BRCA-EU 7 66174058 66174058 single base substitution G A intron_variant BRCA-EU 7 66174600 66174600 single base substitution C G intron_variant BRCA-EU 7 66174654 66174654 single base substitution C G intron_variant BRCA-EU 7 66175409 66175409 single base substitution C G intron_variant BRCA-EU 7 66175990 66175990 deletion of <=200bp A - intron_variant BRCA-EU 7 66176870 66176870 single base substitution G T intron_variant BRCA-EU 7 66177013 66177013 single base substitution G C intron_variant BRCA-EU 7 66178407 66178407 single base substitution G A intron_variant BRCA-EU 7 66179996 66179996 single base substitution C T intron_variant BRCA-EU 7 66180467 66180467 single base substitution G A intron_variant BRCA-EU 7 66182305 66182305 single base substitution C T intron_variant BRCA-EU 7 66182714 66182714 insertion of <=200bp - T intron_variant BRCA-EU 7 66183428 66183428 single base substitution A G intron_variant BRCA-EU 7 66183511 66183511 single base substitution A T intron_variant BRCA-EU 7 66185860 66185860 single base substitution G T intron_variant BRCA-EU 7 66186202 66186202 single base substitution G T intron_variant BRCA-EU 7 66187622 66187623 deletion of <=200bp TT - intron_variant BRCA-EU 7 66187999 66187999 single base substitution A C intron_variant BRCA-EU 7 66188007 66188007 single base substitution G A intron_variant BRCA-EU 7 66188555 66188555 insertion of <=200bp - T intron_variant BRCA-EU 7 66188576 66188576 insertion of <=200bp - T intron_variant BRCA-EU 7 66189174 66189174 single base substitution C G intron_variant BRCA-EU 7 66189358 66189358 single base substitution T A intron_variant BRCA-EU 7 66189378 66189378 single base substitution C T intron_variant BRCA-EU 7 66189826 66189826 single base substitution T G intron_variant BRCA-EU 7 66190792 66190792 single base substitution C A intron_variant BRCA-EU 7 66190884 66190884 single base substitution C T intron_variant BRCA-EU 7 66191358 66191358 deletion of <=200bp T - intron_variant BRCA-EU 7 66194825 66194825 single base substitution C G intron_variant BRCA-EU 7 66195319 66195319 single base substitution C T intron_variant BRCA-EU 7 66196502 66196502 single base substitution G C intron_variant BRCA-EU 7 66196657 66196657 single base substitution T C intron_variant BRCA-EU 7 66197169 66197169 single base substitution G T intron_variant BRCA-EU 7 66198100 66198100 single base substitution C G intron_variant BRCA-EU 7 66198372 66198372 single base substitution G A intron_variant BRCA-EU 7 66199455 66199455 insertion of <=200bp - T intron_variant BRCA-EU 7 66199968 66199968 single base substitution C G intron_variant BRCA-EU 7 66200871 66200871 single base substitution A T intron_variant BRCA-EU 7 66200871 66200871 single base substitution A T upstream_gene_variant BRCA-EU 7 66201411 66201411 single base substitution T C intron_variant BRCA-EU 7 66201411 66201411 single base substitution T C upstream_gene_variant BRCA-EU 7 66202430 66202430 deletion of <=200bp A - intron_variant BRCA-EU 7 66202430 66202430 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 66203133 66203133 single base substitution G C intron_variant BRCA-EU 7 66203133 66203133 single base substitution G C upstream_gene_variant BRCA-EU 7 66203501 66203501 single base substitution G C intron_variant BRCA-EU 7 66203501 66203501 single base substitution G C upstream_gene_variant BRCA-EU 7 66203554 66203554 deletion of <=200bp A - intron_variant BRCA-EU 7 66203554 66203554 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 66204600 66204600 single base substitution G C intron_variant BRCA-EU 7 66204600 66204600 single base substitution G C upstream_gene_variant BRCA-EU 7 66204976 66204976 single base substitution G C intron_variant BRCA-EU 7 66204976 66204976 single base substitution G C upstream_gene_variant BRCA-EU 7 66205811 66205811 single base substitution G A intron_variant BRCA-EU 7 66205811 66205811 single base substitution G C intron_variant BRCA-EU 7 66205814 66205814 single base substitution C T intron_variant BRCA-EU 7 66205984 66205984 single base substitution C T intron_variant BRCA-EU 7 66206000 66206000 single base substitution C G intron_variant BRCA-EU 7 66209162 66209162 single base substitution G A intron_variant BRCA-EU 7 66210548 66210548 single base substitution G A intron_variant BRCA-EU 7 66210976 66210976 single base substitution A C intron_variant BRCA-EU 7 66211442 66211442 deletion of <=200bp T - intron_variant BRCA-EU 7 66214017 66214017 single base substitution C A intron_variant BRCA-EU 7 66216034 66216034 single base substitution G C intron_variant BRCA-EU 7 66216324 66216324 single base substitution C T intron_variant BRCA-EU 7 66216565 66216565 single base substitution G A intron_variant BRCA-EU 7 66217563 66217563 single base substitution T C intron_variant BRCA-EU 7 66217992 66217992 single base substitution G C intron_variant BRCA-EU 7 66218459 66218459 single base substitution A T intron_variant BRCA-EU 7 66218994 66218994 single base substitution T A intron_variant BRCA-EU 7 66219853 66219853 single base substitution G A intron_variant BRCA-EU 7 66220979 66220979 single base substitution C G intron_variant BRCA-EU 7 66221615 66221615 single base substitution T C intron_variant BRCA-EU 7 66222851 66222851 single base substitution A G intron_variant BRCA-EU 7 66224850 66224850 single base substitution C G intron_variant BRCA-EU 7 66226465 66226465 single base substitution C T intron_variant BRCA-EU 7 66226807 66226807 single base substitution G T intron_variant BRCA-EU 7 66227563 66227563 single base substitution G C intron_variant BRCA-EU 7 66227751 66227751 single base substitution G A intron_variant BRCA-EU 7 66231578 66231578 single base substitution C T intron_variant BRCA-EU 7 66232404 66232404 single base substitution G A intron_variant BRCA-EU 7 66234224 66234224 single base substitution C G intron_variant BRCA-EU 7 66235605 66235605 single base substitution G C intron_variant BRCA-EU 7 66237658 66237658 single base substitution G A intron_variant BRCA-EU 7 66238024 66238024 single base substitution G C intron_variant BRCA-EU 7 66240825 66240825 single base substitution G T intron_variant BRCA-EU 7 66241029 66241029 single base substitution G T intron_variant BRCA-EU 7 66241246 66241246 single base substitution G C intron_variant BRCA-EU 7 66241513 66241513 single base substitution C G intron_variant BRCA-EU 7 66242677 66242677 single base substitution G A intron_variant BRCA-EU 7 66243023 66243023 single base substitution A C intron_variant BRCA-EU 7 66244296 66244296 single base substitution G C intron_variant BRCA-EU 7 66244824 66244824 single base substitution T C intron_variant BRCA-EU 7 66245143 66245143 single base substitution G C intron_variant BRCA-EU 7 66245610 66245610 single base substitution C G intron_variant BRCA-EU 7 66245684 66245684 single base substitution G C intron_variant BRCA-EU 7 66246357 66246357 single base substitution T A intron_variant BRCA-EU 7 66246496 66246496 deletion of <=200bp C - intron_variant BRCA-EU 7 66246704 66246704 single base substitution A G intron_variant BRCA-EU 7 66247646 66247646 insertion of <=200bp - A intron_variant BRCA-EU 7 66248108 66248112 deletion of <=200bp TACTT - intron_variant BRCA-EU 7 66248121 66248121 single base substitution T C intron_variant BRCA-EU 7 66248490 66248490 single base substitution G T intron_variant BRCA-EU 7 66248724 66248724 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 66248724 66248724 single base substitution A G missense_variant R137G 409A>G BRCA-EU 7 66248724 66248724 single base substitution A G missense_variant R177G 529A>G BRCA-EU 7 66249253 66249253 single base substitution G C intron_variant BRCA-EU 7 66250016 66250016 single base substitution A G intron_variant BRCA-EU 7 66250227 66250227 single base substitution G C intron_variant BRCA-EU 7 66251343 66251343 single base substitution G C intron_variant BRCA-EU 7 66252455 66252455 single base substitution C T intron_variant BRCA-EU 7 66254752 66254760 deletion of <=200bp GCACATAGT - intron_variant BRCA-EU 7 66254968 66254968 single base substitution C A intron_variant BRCA-EU 7 66254983 66254983 single base substitution A G intron_variant BRCA-EU 7 66255304 66255307 deletion of <=200bp CCTT - intron_variant BRCA-EU 7 66255524 66255524 single base substitution G A intron_variant BRCA-EU 7 66256563 66256563 single base substitution G C intron_variant BRCA-EU 7 66256920 66256920 single base substitution G A intron_variant BRCA-EU 7 66257109 66257109 single base substitution A G intron_variant BRCA-EU 7 66257424 66257424 single base substitution G C intron_variant BRCA-EU 7 66257835 66257835 single base substitution T C intron_variant BRCA-EU 7 66259739 66259739 single base substitution G A intron_variant BRCA-EU 7 66261226 66261226 single base substitution A T intron_variant BRCA-EU 7 66263137 66263137 single base substitution C T intron_variant BRCA-EU 7 66263342 66263342 single base substitution T C intron_variant BRCA-EU 7 66264113 66264113 single base substitution A T intron_variant BRCA-EU 7 66264825 66264825 single base substitution G A intron_variant BRCA-EU 7 66265196 66265196 single base substitution G C intron_variant BRCA-EU 7 66266068 66266068 single base substitution G A intron_variant BRCA-EU 7 66266574 66266574 single base substitution C G intron_variant BRCA-EU 7 66267859 66267859 single base substitution G T intron_variant BRCA-EU 7 66267882 66267882 single base substitution T C intron_variant BRCA-EU 7 66268847 66268847 single base substitution G C intron_variant BRCA-EU 7 66269898 66269898 single base substitution G C intron_variant BRCA-EU 7 66270205 66270205 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 66270205 66270205 single base substitution A G missense_variant N300S 899A>G BRCA-EU 7 66270205 66270205 single base substitution A G missense_variant N340S 1019A>G BRCA-EU 7 66272293 66272293 single base substitution G A intron_variant BRCA-EU 7 66275642 66275642 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 66275642 66275642 single base substitution G A downstream_gene_variant BRCA-EU 7 66275959 66275959 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 66275959 66275959 single base substitution G A downstream_gene_variant BRCA-EU 7 66277445 66277445 single base substitution C G downstream_gene_variant BRCA-EU 7 66277565 66277565 single base substitution G C downstream_gene_variant BRCA-EU 7 66278209 66278209 single base substitution C A downstream_gene_variant BRCA-EU 7 66279488 66279488 single base substitution T C downstream_gene_variant BRCA-EU 7 66281182 66281182 single base substitution G C downstream_gene_variant BRCA-FR 7 66098237 66098237 single base substitution G C intron_variant BRCA-FR 7 66114919 66114919 single base substitution C T intron_variant BRCA-FR 7 66116362 66116362 single base substitution C T intron_variant BRCA-FR 7 66124910 66124910 single base substitution A G intron_variant BRCA-FR 7 66132191 66132191 single base substitution G C intron_variant BRCA-FR 7 66158844 66158844 single base substitution G A intron_variant BRCA-FR 7 66164443 66164443 single base substitution C T intron_variant BRCA-FR 7 66165010 66165010 single base substitution C T intron_variant BRCA-FR 7 66187999 66187999 single base substitution A C intron_variant BRCA-FR 7 66198100 66198100 single base substitution C G intron_variant BRCA-FR 7 66203941 66203941 single base substitution T A intron_variant BRCA-FR 7 66203941 66203941 single base substitution T A upstream_gene_variant BRCA-FR 7 66204976 66204976 single base substitution G C intron_variant BRCA-FR 7 66204976 66204976 single base substitution G C upstream_gene_variant BRCA-FR 7 66205814 66205814 single base substitution C T intron_variant BRCA-FR 7 66209162 66209162 single base substitution G A intron_variant BRCA-FR 7 66212022 66212022 single base substitution C T intron_variant BRCA-FR 7 66221615 66221615 single base substitution T C intron_variant BRCA-FR 7 66225782 66225782 single base substitution G C intron_variant BRCA-FR 7 66227563 66227563 single base substitution G C intron_variant BRCA-FR 7 66238024 66238024 single base substitution G C intron_variant BRCA-FR 7 66239637 66239637 single base substitution C T intron_variant BRCA-FR 7 66247592 66247592 single base substitution G T intron_variant BRCA-FR 7 66247593 66247593 single base substitution G T intron_variant BRCA-FR 7 66250638 66250638 single base substitution G A intron_variant BRCA-FR 7 66257109 66257109 single base substitution A G intron_variant BRCA-FR 7 66259991 66259991 single base substitution G A intron_variant BRCA-FR 7 66263342 66263342 single base substitution T C intron_variant BRCA-FR 7 66264500 66264500 single base substitution G A intron_variant BRCA-FR 7 66266068 66266068 single base substitution G A intron_variant BRCA-UK 7 66107900 66107900 single base substitution C T 3_prime_UTR_variant BRCA-UK 7 66107900 66107900 single base substitution C T downstream_gene_variant BRCA-UK 7 66107900 66107900 single base substitution C T intron_variant BRCA-UK 7 66111012 66111012 single base substitution G C downstream_gene_variant BRCA-UK 7 66111012 66111012 single base substitution G C intron_variant BRCA-UK 7 66126273 66126273 single base substitution G A intron_variant BRCA-UK 7 66167690 66167690 single base substitution C T intron_variant BRCA-UK 7 66174928 66174928 single base substitution G A intron_variant BRCA-UK 7 66190649 66190649 single base substitution G A intron_variant BRCA-UK 7 66200871 66200871 single base substitution A T intron_variant BRCA-UK 7 66200871 66200871 single base substitution A T upstream_gene_variant BRCA-UK 7 66260584 66260584 single base substitution C T splice_region_variant BRCA-US 7 66103260 66103260 single base substitution G T exon_variant BRCA-US 7 66103260 66103260 single base substitution G T missense_variant R112L 335G>T BRCA-US 7 66103260 66103260 single base substitution G T synonymous_variant A55A 165G>T BRCA-US 7 66236971 66236974 deletion of <=200bp CCTG - exon_variant BRCA-US 7 66236971 66236974 deletion of <=200bp CCTG - frameshift_variant PA29 BRCA-US 7 66240224 66240224 single base substitution G A 3_prime_UTR_variant BRCA-US 7 66240224 66240224 single base substitution G A missense_variant E104K 310G>A BRCA-US 7 66240224 66240224 single base substitution G A missense_variant E64K 190G>A BRCA-US 7 66274155 66274155 single base substitution G A 3_prime_UTR_variant BRCA-US 7 66274155 66274155 single base substitution G A missense_variant E454K 1360G>A BRCA-US 7 66274155 66274155 single base substitution G A missense_variant E494K 1480G>A BTCA-JP 7 66105446 66105446 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 66105446 66105446 single base substitution G A downstream_gene_variant BTCA-JP 7 66105446 66105446 single base substitution G A intron_variant BTCA-JP 7 66147101 66147101 single base substitution G A intron_variant BTCA-JP 7 66147110 66147110 single base substitution C A intron_variant BTCA-JP 7 66147178 66147178 single base substitution C T intron_variant BTCA-JP 7 66264347 66264347 single base substitution C T 3_prime_UTR_variant BTCA-JP 7 66264347 66264347 single base substitution C T missense_variant P256S 766C>T BTCA-JP 7 66264347 66264347 single base substitution C T missense_variant P296S 886C>T BTCA-JP 7 66273906 66273906 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 66273906 66273906 single base substitution G A missense_variant A371T 1111G>A BTCA-JP 7 66273906 66273906 single base substitution G A missense_variant A411T 1231G>A CESC-US 7 66098334 66098334 single base substitution G A intron_variant CESC-US 7 66098334 66098334 single base substitution G A missense_variant E73K 217G>A CESC-US 7 66274797 66274797 single base substitution G C 3_prime_UTR_variant CESC-US 7 66274797 66274797 single base substitution G C downstream_gene_variant CLLE-ES 7 66092490 66092490 single base substitution C T upstream_gene_variant CLLE-ES 7 66108411 66108411 single base substitution C G downstream_gene_variant CLLE-ES 7 66108411 66108411 single base substitution C G intron_variant CLLE-ES 7 66117719 66117719 single base substitution G A intron_variant CLLE-ES 7 66122474 66122474 single base substitution C G intron_variant CLLE-ES 7 66141915 66141915 single base substitution T C intron_variant CLLE-ES 7 66191487 66191487 single base substitution A G intron_variant CLLE-ES 7 66201933 66201933 single base substitution G A intron_variant CLLE-ES 7 66201933 66201933 single base substitution G A upstream_gene_variant CLLE-ES 7 66208226 66208226 single base substitution C G intron_variant CLLE-ES 7 66240054 66240054 single base substitution C T intron_variant COAD-US 7 66240321 66240321 single base substitution G A 3_prime_UTR_variant COAD-US 7 66240321 66240321 single base substitution G A missense_variant R136H 407G>A COAD-US 7 66240321 66240321 single base substitution G A missense_variant R96H 287G>A COCA-CN 7 66092677 66092677 single base substitution T A upstream_gene_variant COCA-CN 7 66097874 66097874 single base substitution T A intron_variant COCA-CN 7 66098384 66098384 single base substitution G A intron_variant COCA-CN 7 66098384 66098384 single base substitution G A synonymous_variant T89T 267G>A COCA-CN 7 66099649 66099649 single base substitution G A intron_variant COCA-CN 7 66099790 66099790 single base substitution C T intron_variant COCA-CN 7 66100971 66100971 single base substitution T C intron_variant COCA-CN 7 66103920 66103920 single base substitution T G downstream_gene_variant COCA-CN 7 66103920 66103920 single base substitution T G missense_variant C191G 571T>G COCA-CN 7 66103920 66103920 single base substitution T G splice_region_variant COCA-CN 7 66104098 66104098 single base substitution C T downstream_gene_variant COCA-CN 7 66104098 66104098 single base substitution C T intron_variant COCA-CN 7 66104098 66104098 single base substitution C T missense_variant T250M 749C>T COCA-CN 7 66104418 66104418 single base substitution C T 3_prime_UTR_variant COCA-CN 7 66104418 66104418 single base substitution C T downstream_gene_variant COCA-CN 7 66104418 66104418 single base substitution C T intron_variant COCA-CN 7 66105435 66105435 single base substitution T C 3_prime_UTR_variant COCA-CN 7 66105435 66105435 single base substitution T C downstream_gene_variant COCA-CN 7 66105435 66105435 single base substitution T C intron_variant COCA-CN 7 66115795 66115795 single base substitution T A intron_variant COCA-CN 7 66118854 66118854 single base substitution C A intron_variant COCA-CN 7 66121847 66121847 single base substitution G T intron_variant COCA-CN 7 66121885 66121885 single base substitution G A intron_variant COCA-CN 7 66136031 66136031 single base substitution T G intron_variant COCA-CN 7 66137327 66137327 single base substitution G A intron_variant COCA-CN 7 66147523 66147523 single base substitution T G intron_variant COCA-CN 7 66152731 66152731 single base substitution C G intron_variant COCA-CN 7 66157065 66157065 single base substitution C T intron_variant COCA-CN 7 66158499 66158499 single base substitution C G intron_variant COCA-CN 7 66169729 66169729 single base substitution C T intron_variant COCA-CN 7 66170434 66170434 single base substitution G C intron_variant COCA-CN 7 66170436 66170436 single base substitution G A intron_variant COCA-CN 7 66185742 66185742 single base substitution C T intron_variant COCA-CN 7 66188718 66188718 single base substitution A C intron_variant COCA-CN 7 66193723 66193723 single base substitution C T intron_variant COCA-CN 7 66193796 66193796 single base substitution T C intron_variant COCA-CN 7 66193806 66193806 single base substitution T C intron_variant COCA-CN 7 66194249 66194249 single base substitution A T intron_variant COCA-CN 7 66194385 66194385 single base substitution C A intron_variant COCA-CN 7 66194419 66194419 single base substitution G C intron_variant COCA-CN 7 66194422 66194422 single base substitution T C intron_variant COCA-CN 7 66194428 66194428 single base substitution C T intron_variant COCA-CN 7 66202086 66202086 single base substitution A C intron_variant COCA-CN 7 66202086 66202086 single base substitution A C upstream_gene_variant COCA-CN 7 66204593 66204593 single base substitution A G intron_variant COCA-CN 7 66204593 66204593 single base substitution A G upstream_gene_variant COCA-CN 7 66207897 66207897 single base substitution C T intron_variant COCA-CN 7 66218847 66218847 single base substitution T C intron_variant COCA-CN 7 66229379 66229379 single base substitution G T intron_variant COCA-CN 7 66236814 66236814 single base substitution G T intron_variant COCA-CN 7 66237168 66237168 single base substitution A C intron_variant COCA-CN 7 66237209 66237209 single base substitution C T intron_variant COCA-CN 7 66237912 66237912 single base substitution T A intron_variant COCA-CN 7 66240402 66240402 single base substitution T C intron_variant COCA-CN 7 66254646 66254646 single base substitution A G intron_variant COCA-CN 7 66266898 66266898 single base substitution G T intron_variant COCA-CN 7 66273816 66273816 single base substitution C T intron_variant COCA-CN 7 66280803 66280803 single base substitution A G downstream_gene_variant EOPC-DE 7 66165310 66165310 single base substitution T C intron_variant EOPC-DE 7 66172716 66172716 single base substitution G T intron_variant EOPC-DE 7 66200721 66200721 single base substitution C T intron_variant EOPC-DE 7 66200721 66200721 single base substitution C T upstream_gene_variant ESAD-UK 7 66090980 66090980 single base substitution A G upstream_gene_variant ESAD-UK 7 66091145 66091145 single base substitution C T upstream_gene_variant ESAD-UK 7 66091170 66091170 single base substitution C A upstream_gene_variant ESAD-UK 7 66091228 66091228 single base substitution A C upstream_gene_variant ESAD-UK 7 66093122 66093122 single base substitution T C upstream_gene_variant ESAD-UK 7 66094378 66094378 single base substitution C T intron_variant ESAD-UK 7 66097867 66097867 insertion of <=200bp - AA intron_variant ESAD-UK 7 66097937 66097937 single base substitution C T intron_variant ESAD-UK 7 66097976 66097976 single base substitution C T intron_variant ESAD-UK 7 66098488 66098488 single base substitution T G intron_variant ESAD-UK 7 66103389 66103389 single base substitution C A exon_variant ESAD-UK 7 66103389 66103389 single base substitution C A missense_variant A155E 464C>A ESAD-UK 7 66103389 66103389 single base substitution C A missense_variant S98R 294C>A ESAD-UK 7 66104730 66104730 single base substitution C G 3_prime_UTR_variant ESAD-UK 7 66104730 66104730 single base substitution C G downstream_gene_variant ESAD-UK 7 66104730 66104730 single base substitution C G intron_variant ESAD-UK 7 66107549 66107549 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 66107549 66107549 single base substitution C T downstream_gene_variant ESAD-UK 7 66107549 66107549 single base substitution C T intron_variant ESAD-UK 7 66108290 66108290 single base substitution C A downstream_gene_variant ESAD-UK 7 66108290 66108290 single base substitution C A intron_variant ESAD-UK 7 66110480 66110480 single base substitution C T downstream_gene_variant ESAD-UK 7 66110480 66110480 single base substitution C T intron_variant ESAD-UK 7 66110876 66110876 single base substitution C G downstream_gene_variant ESAD-UK 7 66110876 66110876 single base substitution C G intron_variant ESAD-UK 7 66111347 66111347 single base substitution G A downstream_gene_variant ESAD-UK 7 66111347 66111347 single base substitution G A intron_variant ESAD-UK 7 66111416 66111416 single base substitution T G downstream_gene_variant ESAD-UK 7 66111416 66111416 single base substitution T G intron_variant ESAD-UK 7 66111959 66111959 single base substitution T A downstream_gene_variant ESAD-UK 7 66111959 66111959 single base substitution T A intron_variant ESAD-UK 7 66114597 66114597 single base substitution G A intron_variant ESAD-UK 7 66115472 66115472 single base substitution T C intron_variant ESAD-UK 7 66119126 66119126 single base substitution G C intron_variant ESAD-UK 7 66119276 66119276 single base substitution G A intron_variant ESAD-UK 7 66119320 66119320 single base substitution C A intron_variant ESAD-UK 7 66120646 66120646 single base substitution C T intron_variant ESAD-UK 7 66120784 66120784 single base substitution C T intron_variant ESAD-UK 7 66120850 66120850 single base substitution C T intron_variant ESAD-UK 7 66121399 66121399 single base substitution C T intron_variant ESAD-UK 7 66122692 66122692 single base substitution C T intron_variant ESAD-UK 7 66122985 66122985 insertion of <=200bp - T intron_variant ESAD-UK 7 66123633 66123633 single base substitution C T intron_variant ESAD-UK 7 66123830 66123830 single base substitution C T intron_variant ESAD-UK 7 66124876 66124876 single base substitution A G intron_variant ESAD-UK 7 66126771 66126771 single base substitution C T intron_variant ESAD-UK 7 66127437 66127437 single base substitution T A intron_variant ESAD-UK 7 66128915 66128915 single base substitution G T intron_variant ESAD-UK 7 66133348 66133348 single base substitution C T intron_variant ESAD-UK 7 66133999 66133999 single base substitution A G intron_variant ESAD-UK 7 66134246 66134246 single base substitution C G intron_variant ESAD-UK 7 66134923 66134923 single base substitution C T intron_variant ESAD-UK 7 66135692 66135692 single base substitution G A intron_variant ESAD-UK 7 66135703 66135703 single base substitution C T intron_variant ESAD-UK 7 66136280 66136280 single base substitution C G intron_variant ESAD-UK 7 66136398 66136398 insertion of <=200bp - G intron_variant ESAD-UK 7 66136524 66136524 deletion of <=200bp A - intron_variant ESAD-UK 7 66140371 66140371 single base substitution C G intron_variant ESAD-UK 7 66140415 66140415 single base substitution C T intron_variant ESAD-UK 7 66140418 66140418 deletion of <=200bp A - intron_variant ESAD-UK 7 66140757 66140757 deletion of <=200bp T - intron_variant ESAD-UK 7 66144479 66144498 deletion of <=200bp AGAGGTGGGGTTTCACCACC - intron_variant ESAD-UK 7 66148082 66148082 single base substitution T G intron_variant ESAD-UK 7 66149789 66149789 single base substitution T C intron_variant ESAD-UK 7 66149811 66149811 single base substitution C T intron_variant ESAD-UK 7 66154058 66154058 single base substitution T G intron_variant ESAD-UK 7 66154860 66154860 single base substitution C G intron_variant ESAD-UK 7 66155214 66155214 single base substitution A G intron_variant ESAD-UK 7 66155381 66155381 single base substitution C T intron_variant ESAD-UK 7 66155906 66155906 single base substitution A G intron_variant ESAD-UK 7 66158585 66158585 single base substitution G T intron_variant ESAD-UK 7 66161062 66161062 single base substitution A T intron_variant ESAD-UK 7 66162332 66162332 single base substitution C G intron_variant ESAD-UK 7 66163271 66163271 single base substitution C G intron_variant ESAD-UK 7 66164944 66164944 single base substitution C A intron_variant ESAD-UK 7 66165695 66165695 single base substitution G A intron_variant ESAD-UK 7 66165990 66165990 single base substitution C T intron_variant ESAD-UK 7 66166119 66166119 single base substitution G A intron_variant ESAD-UK 7 66171950 66171950 single base substitution T G intron_variant ESAD-UK 7 66173519 66173519 single base substitution G A intron_variant ESAD-UK 7 66174649 66174649 single base substitution C T intron_variant ESAD-UK 7 66178761 66178761 single base substitution G A intron_variant ESAD-UK 7 66181029 66181029 single base substitution C T intron_variant ESAD-UK 7 66182386 66182386 deletion of <=200bp A - intron_variant ESAD-UK 7 66182677 66182677 single base substitution G A intron_variant ESAD-UK 7 66183850 66183850 single base substitution A C intron_variant ESAD-UK 7 66185186 66185186 single base substitution T A intron_variant ESAD-UK 7 66188941 66188941 single base substitution T C intron_variant ESAD-UK 7 66189359 66189359 single base substitution T A intron_variant ESAD-UK 7 66189826 66189826 single base substitution T A intron_variant ESAD-UK 7 66190875 66190875 single base substitution A C intron_variant ESAD-UK 7 66191365 66191365 single base substitution T A intron_variant ESAD-UK 7 66192294 66192294 single base substitution T A intron_variant ESAD-UK 7 66192295 66192295 single base substitution G T intron_variant ESAD-UK 7 66194188 66194188 single base substitution C T intron_variant ESAD-UK 7 66195132 66195132 single base substitution G A intron_variant ESAD-UK 7 66196153 66196153 single base substitution G A intron_variant ESAD-UK 7 66196965 66196965 single base substitution C T intron_variant ESAD-UK 7 66198760 66198760 single base substitution C T intron_variant ESAD-UK 7 66198818 66198818 single base substitution C T intron_variant ESAD-UK 7 66200157 66200157 single base substitution C T intron_variant ESAD-UK 7 66201699 66201699 single base substitution T G intron_variant ESAD-UK 7 66201699 66201699 single base substitution T G upstream_gene_variant ESAD-UK 7 66211201 66211201 single base substitution T C intron_variant ESAD-UK 7 66211242 66211242 single base substitution C T intron_variant ESAD-UK 7 66212070 66212070 single base substitution C T intron_variant ESAD-UK 7 66212559 66212559 single base substitution T A intron_variant ESAD-UK 7 66214678 66214678 single base substitution G T intron_variant ESAD-UK 7 66220343 66220343 single base substitution T G intron_variant ESAD-UK 7 66222604 66222604 single base substitution T G intron_variant ESAD-UK 7 66222950 66222950 single base substitution G A intron_variant ESAD-UK 7 66224938 66224938 single base substitution C T intron_variant ESAD-UK 7 66226111 66226111 single base substitution A C intron_variant ESAD-UK 7 66226574 66226574 single base substitution G A intron_variant ESAD-UK 7 66226859 66226859 single base substitution G A intron_variant ESAD-UK 7 66226976 66226976 single base substitution G A intron_variant ESAD-UK 7 66227376 66227376 single base substitution G A intron_variant ESAD-UK 7 66232593 66232593 single base substitution G A intron_variant ESAD-UK 7 66235816 66235816 single base substitution G A intron_variant ESAD-UK 7 66239163 66239163 deletion of <=200bp A - intron_variant ESAD-UK 7 66240054 66240054 single base substitution C T intron_variant ESAD-UK 7 66240663 66240663 insertion of <=200bp - T intron_variant ESAD-UK 7 66240723 66240723 single base substitution A T intron_variant ESAD-UK 7 66244359 66244359 single base substitution C T intron_variant ESAD-UK 7 66244496 66244496 single base substitution A C intron_variant ESAD-UK 7 66250524 66250524 single base substitution C A intron_variant ESAD-UK 7 66259233 66259233 deletion of <=200bp A - intron_variant ESAD-UK 7 66259723 66259723 single base substitution G C intron_variant ESAD-UK 7 66259819 66259819 single base substitution G A intron_variant ESAD-UK 7 66259832 66259832 single base substitution G A intron_variant ESAD-UK 7 66259870 66259870 single base substitution G A intron_variant ESAD-UK 7 66261185 66261185 single base substitution C A intron_variant ESAD-UK 7 66262920 66262920 single base substitution G A intron_variant ESAD-UK 7 66263274 66263274 single base substitution C T intron_variant ESAD-UK 7 66264005 66264005 single base substitution A G intron_variant ESAD-UK 7 66265522 66265522 single base substitution G C intron_variant ESAD-UK 7 66267636 66267636 single base substitution C A intron_variant ESAD-UK 7 66267683 66267683 single base substitution C G intron_variant ESAD-UK 7 66268136 66268136 single base substitution G A intron_variant ESAD-UK 7 66269107 66269107 single base substitution G T intron_variant ESAD-UK 7 66269170 66269170 single base substitution A T intron_variant ESAD-UK 7 66269172 66269172 deletion of <=200bp G - intron_variant ESAD-UK 7 66269320 66269321 deletion of <=200bp GA - intron_variant ESAD-UK 7 66269572 66269572 single base substitution A G intron_variant ESAD-UK 7 66269637 66269637 single base substitution G A intron_variant ESAD-UK 7 66272255 66272255 single base substitution G T intron_variant ESAD-UK 7 66277914 66277914 single base substitution C T downstream_gene_variant ESAD-UK 7 66278140 66278140 single base substitution G A downstream_gene_variant ESAD-UK 7 66278141 66278141 single base substitution C T downstream_gene_variant ESCA-CN 7 66099774 66099774 single base substitution T A intron_variant ESCA-CN 7 66240349 66240349 single base substitution C T 3_prime_UTR_variant ESCA-CN 7 66240349 66240349 single base substitution C T synonymous_variant F105F 315C>T ESCA-CN 7 66240349 66240349 single base substitution C T synonymous_variant F145F 435C>T GACA-CN 7 66273906 66273906 single base substitution G A 3_prime_UTR_variant GACA-CN 7 66273906 66273906 single base substitution G A missense_variant A371T 1111G>A GACA-CN 7 66273906 66273906 single base substitution G A missense_variant A411T 1231G>A GBM-US 7 66240254 66240254 single base substitution A T 3_prime_UTR_variant GBM-US 7 66240254 66240254 single base substitution A T missense_variant S114C 340A>T GBM-US 7 66240254 66240254 single base substitution A T missense_variant S74C 220A>T GBM-US 7 66240279 66240279 single base substitution C T 3_prime_UTR_variant GBM-US 7 66240279 66240279 single base substitution C T missense_variant T122I 365C>T GBM-US 7 66240279 66240279 single base substitution C T missense_variant T82I 245C>T GBM-US 7 66240358 66240358 single base substitution T C 3_prime_UTR_variant GBM-US 7 66240358 66240358 single base substitution T C synonymous_variant S108S 324T>C GBM-US 7 66240358 66240358 single base substitution T C synonymous_variant S148S 444T>C GBM-US 7 66262470 66262470 single base substitution T C 3_prime_UTR_variant GBM-US 7 66262470 66262470 single base substitution T C synonymous_variant D235D 705T>C GBM-US 7 66262470 66262470 single base substitution T C synonymous_variant D275D 825T>C GBM-US 7 66270262 66270262 single base substitution T C 3_prime_UTR_variant GBM-US 7 66270262 66270262 single base substitution T C missense_variant L319P 956T>C GBM-US 7 66270262 66270262 single base substitution T C missense_variant L359P 1076T>C KIRC-US 7 66103318 66103318 single base substitution C G exon_variant KIRC-US 7 66103318 66103318 single base substitution C G missense_variant L75V 223C>G KIRC-US 7 66103318 66103318 single base substitution C G stop_gained Y131* 393C>G KIRC-US 7 66103415 66103415 deletion of <=200bp A - exon_variant KIRC-US 7 66103415 66103415 deletion of <=200bp A - frameshift_variant K164 KIRC-US 7 66103415 66103415 deletion of <=200bp A - frameshift_variant Q107 KIRC-US 7 66103415 66103415 single base substitution A G exon_variant KIRC-US 7 66103415 66103415 single base substitution A G missense_variant K164E 490A>G KIRC-US 7 66103415 66103415 single base substitution A G missense_variant Q107R 320A>G KIRC-US 7 66248812 66248812 single base substitution G C 3_prime_UTR_variant KIRC-US 7 66248812 66248812 single base substitution G C missense_variant G166A 497G>C KIRC-US 7 66248812 66248812 single base substitution G C missense_variant G206A 617G>C KIRC-US 7 66260561 66260561 single base substitution A T 3_prime_UTR_variant KIRC-US 7 66260561 66260561 single base substitution A T missense_variant M193L 577A>T KIRC-US 7 66260561 66260561 single base substitution A T missense_variant M233L 697A>T LAML-KR 7 66124210 66124210 single base substitution T C intron_variant LAML-KR 7 66151290 66151290 single base substitution T G intron_variant LAML-KR 7 66178131 66178131 single base substitution C T intron_variant LAML-KR 7 66178147 66178147 single base substitution G T intron_variant LAML-KR 7 66195563 66195563 single base substitution G T intron_variant LAML-KR 7 66199606 66199606 single base substitution A T intron_variant LAML-KR 7 66202060 66202060 single base substitution T A intron_variant LAML-KR 7 66202060 66202060 single base substitution T A upstream_gene_variant LAML-KR 7 66210775 66210775 single base substitution T G intron_variant LAML-KR 7 66248864 66248864 single base substitution T C intron_variant LAML-KR 7 66252371 66252371 single base substitution C G intron_variant LICA-CN 7 66221054 66221054 single base substitution A T intron_variant LICA-CN 7 66260510 66260510 single base substitution G C 3_prime_UTR_variant LICA-CN 7 66260510 66260510 single base substitution G C missense_variant E176Q 526G>C LICA-CN 7 66260510 66260510 single base substitution G C missense_variant E216Q 646G>C LICA-CN 7 66262408 66262408 single base substitution A T 3_prime_UTR_variant LICA-CN 7 66262408 66262408 single base substitution A T missense_variant I215F 643A>T LICA-CN 7 66262408 66262408 single base substitution A T missense_variant I255F 763A>T LICA-FR 7 66123521 66123521 deletion of <=200bp A - intron_variant LICA-FR 7 66128412 66128412 single base substitution A G intron_variant LICA-FR 7 66150141 66150141 insertion of <=200bp - T intron_variant LICA-FR 7 66158149 66158149 single base substitution C T intron_variant LICA-FR 7 66170431 66170431 insertion of <=200bp - AGACAGAGAG intron_variant LICA-FR 7 66197458 66197458 single base substitution A G intron_variant LICA-FR 7 66202054 66202054 single base substitution A T intron_variant LICA-FR 7 66202054 66202054 single base substitution A T upstream_gene_variant LICA-FR 7 66203719 66203719 insertion of <=200bp - AAA intron_variant LICA-FR 7 66203719 66203719 insertion of <=200bp - AAA upstream_gene_variant LICA-FR 7 66210747 66210747 single base substitution C G intron_variant LICA-FR 7 66210889 66210889 single base substitution G T intron_variant LICA-FR 7 66219502 66219502 single base substitution G A intron_variant LICA-FR 7 66225821 66225821 single base substitution G T intron_variant LICA-FR 7 66229008 66229008 single base substitution A G intron_variant LICA-FR 7 66244658 66244658 insertion of <=200bp - A intron_variant LICA-FR 7 66244970 66244970 insertion of <=200bp - TA intron_variant LICA-FR 7 66250463 66250463 single base substitution A G intron_variant LICA-FR 7 66251690 66251690 single base substitution G T intron_variant LICA-FR 7 66260642 66260642 single base substitution G A intron_variant LIHC-US 7 66270375 66270375 single base substitution A T 3_prime_UTR_variant LIHC-US 7 66270375 66270375 single base substitution A T missense_variant T357S 1069A>T LIHC-US 7 66270375 66270375 single base substitution A T missense_variant T397S 1189A>T LINC-JP 7 66105556 66105556 single base substitution T C 3_prime_UTR_variant LINC-JP 7 66105556 66105556 single base substitution T C downstream_gene_variant LINC-JP 7 66105556 66105556 single base substitution T C intron_variant LINC-JP 7 66150657 66150657 single base substitution A T intron_variant LINC-JP 7 66165147 66165147 single base substitution A T intron_variant LINC-JP 7 66165486 66165486 deletion of <=200bp T - intron_variant LINC-JP 7 66170417 66170417 single base substitution C G intron_variant LINC-JP 7 66170476 66170476 single base substitution A G intron_variant LINC-JP 7 66201291 66201291 single base substitution G A intron_variant LINC-JP 7 66201291 66201291 single base substitution G A upstream_gene_variant LINC-JP 7 66208305 66208305 single base substitution G A intron_variant LINC-JP 7 66219179 66219179 single base substitution C T intron_variant LINC-JP 7 66232294 66232294 deletion of <=200bp T - intron_variant LINC-JP 7 66241655 66241655 single base substitution C T intron_variant LINC-JP 7 66260755 66260755 single base substitution C T intron_variant LINC-JP 7 66262319 66262319 single base substitution A G intron_variant LINC-JP 7 66265017 66265017 single base substitution C A intron_variant LIRI-JP 7 66089546 66089546 single base substitution G T upstream_gene_variant LIRI-JP 7 66090899 66090899 single base substitution C T upstream_gene_variant LIRI-JP 7 66091680 66091680 single base substitution T G upstream_gene_variant LIRI-JP 7 66092378 66092378 single base substitution A G upstream_gene_variant LIRI-JP 7 66092509 66092509 single base substitution G C upstream_gene_variant LIRI-JP 7 66098541 66098541 single base substitution T C intron_variant LIRI-JP 7 66099602 66099602 single base substitution T C intron_variant LIRI-JP 7 66102724 66102724 single base substitution A G intron_variant LIRI-JP 7 66105608 66105608 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 66105608 66105608 single base substitution A G downstream_gene_variant LIRI-JP 7 66105608 66105608 single base substitution A G intron_variant LIRI-JP 7 66106540 66106540 single base substitution C T 3_prime_UTR_variant LIRI-JP 7 66106540 66106540 single base substitution C T downstream_gene_variant LIRI-JP 7 66106540 66106540 single base substitution C T intron_variant LIRI-JP 7 66112731 66112731 single base substitution T C downstream_gene_variant LIRI-JP 7 66112731 66112731 single base substitution T C intron_variant LIRI-JP 7 66116485 66116485 single base substitution C G intron_variant LIRI-JP 7 66116911 66116911 single base substitution G A intron_variant LIRI-JP 7 66118671 66118671 single base substitution A G intron_variant LIRI-JP 7 66120979 66120979 single base substitution G A intron_variant LIRI-JP 7 66122746 66122746 single base substitution T C intron_variant LIRI-JP 7 66122976 66122976 single base substitution A G intron_variant LIRI-JP 7 66123248 66123248 single base substitution A T intron_variant LIRI-JP 7 66129639 66129639 single base substitution A G intron_variant LIRI-JP 7 66129932 66129932 single base substitution G A intron_variant LIRI-JP 7 66135385 66135398 deletion of <=200bp ATGGAATTTAATAA - intron_variant LIRI-JP 7 66139238 66139238 single base substitution A G intron_variant LIRI-JP 7 66139471 66139471 single base substitution G A intron_variant LIRI-JP 7 66139842 66139842 single base substitution T C intron_variant LIRI-JP 7 66149262 66149262 single base substitution C A intron_variant LIRI-JP 7 66150968 66150968 single base substitution A C intron_variant LIRI-JP 7 66154682 66154682 single base substitution C A intron_variant LIRI-JP 7 66157136 66157136 single base substitution C T intron_variant LIRI-JP 7 66157682 66157682 single base substitution C A intron_variant LIRI-JP 7 66159528 66159528 single base substitution G T intron_variant LIRI-JP 7 66161209 66161209 single base substitution T C intron_variant LIRI-JP 7 66163162 66163162 single base substitution G A intron_variant LIRI-JP 7 66165283 66165283 deletion of <=200bp A - intron_variant LIRI-JP 7 66168087 66168087 single base substitution A C intron_variant LIRI-JP 7 66173005 66173005 single base substitution A G intron_variant LIRI-JP 7 66174210 66174210 single base substitution G T intron_variant LIRI-JP 7 66174553 66174553 single base substitution A T intron_variant LIRI-JP 7 66178607 66178607 single base substitution T A intron_variant LIRI-JP 7 66179344 66179344 single base substitution T G intron_variant LIRI-JP 7 66185333 66185333 single base substitution C A intron_variant LIRI-JP 7 66189772 66189772 single base substitution A T intron_variant LIRI-JP 7 66191616 66191616 single base substitution A G intron_variant LIRI-JP 7 66192047 66192047 single base substitution G C intron_variant LIRI-JP 7 66197409 66197409 single base substitution A T intron_variant LIRI-JP 7 66201809 66201809 single base substitution C G intron_variant LIRI-JP 7 66201809 66201809 single base substitution C G upstream_gene_variant LIRI-JP 7 66201831 66201831 single base substitution G C intron_variant LIRI-JP 7 66201831 66201831 single base substitution G C upstream_gene_variant LIRI-JP 7 66202187 66202187 single base substitution T C intron_variant LIRI-JP 7 66202187 66202187 single base substitution T C upstream_gene_variant LIRI-JP 7 66204748 66204748 single base substitution T C intron_variant LIRI-JP 7 66204748 66204748 single base substitution T C upstream_gene_variant LIRI-JP 7 66206648 66206648 single base substitution C T intron_variant LIRI-JP 7 66208616 66208616 single base substitution A G intron_variant LIRI-JP 7 66208733 66208733 single base substitution C T intron_variant LIRI-JP 7 66209188 66209188 single base substitution G T intron_variant LIRI-JP 7 66211929 66211929 single base substitution C T intron_variant LIRI-JP 7 66213388 66213388 single base substitution C T intron_variant LIRI-JP 7 66213770 66213770 single base substitution A G intron_variant LIRI-JP 7 66214820 66214820 single base substitution G A intron_variant LIRI-JP 7 66215012 66215012 single base substitution A T intron_variant LIRI-JP 7 66216586 66216586 single base substitution G A intron_variant LIRI-JP 7 66217330 66217330 single base substitution A C intron_variant LIRI-JP 7 66217900 66217900 single base substitution T C intron_variant LIRI-JP 7 66218081 66218081 single base substitution G A intron_variant LIRI-JP 7 66218398 66218398 single base substitution G A intron_variant LIRI-JP 7 66219380 66219380 single base substitution A G intron_variant LIRI-JP 7 66221394 66221394 single base substitution G C intron_variant LIRI-JP 7 66223891 66223891 single base substitution A G intron_variant LIRI-JP 7 66225826 66225826 single base substitution G A intron_variant LIRI-JP 7 66226528 66226528 single base substitution G C intron_variant LIRI-JP 7 66227901 66227901 single base substitution A T intron_variant LIRI-JP 7 66228903 66228903 single base substitution A G intron_variant LIRI-JP 7 66229109 66229109 single base substitution C G intron_variant LIRI-JP 7 66236456 66236456 single base substitution A G intron_variant LIRI-JP 7 66238230 66238230 single base substitution T C intron_variant LIRI-JP 7 66238870 66238870 single base substitution C G intron_variant LIRI-JP 7 66239725 66239725 single base substitution C T intron_variant LIRI-JP 7 66240989 66240989 single base substitution A G intron_variant LIRI-JP 7 66241375 66241375 single base substitution C G intron_variant LIRI-JP 7 66242923 66242923 single base substitution T G intron_variant LIRI-JP 7 66250463 66250463 single base substitution A G intron_variant LIRI-JP 7 66252517 66252517 single base substitution A G intron_variant LIRI-JP 7 66253549 66253549 single base substitution A C intron_variant LIRI-JP 7 66254586 66254586 single base substitution C T intron_variant LIRI-JP 7 66257005 66257005 single base substitution A G intron_variant LIRI-JP 7 66260283 66260283 single base substitution G A intron_variant LIRI-JP 7 66261310 66261313 deletion of <=200bp TGTG - intron_variant LIRI-JP 7 66262884 66262884 single base substitution A T intron_variant LIRI-JP 7 66264641 66264641 single base substitution C A intron_variant LIRI-JP 7 66265063 66265063 single base substitution C G intron_variant LIRI-JP 7 66265130 66265130 single base substitution A G intron_variant LIRI-JP 7 66269670 66269670 single base substitution A G intron_variant LIRI-JP 7 66271038 66271041 deletion of <=200bp CTTC - intron_variant LIRI-JP 7 66273535 66273535 single base substitution A T intron_variant LIRI-JP 7 66273544 66273544 single base substitution A G intron_variant LIRI-JP 7 66275024 66275024 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 66275024 66275024 single base substitution T C downstream_gene_variant LIRI-JP 7 66276098 66276098 single base substitution T G 3_prime_UTR_variant LIRI-JP 7 66276098 66276098 single base substitution T G downstream_gene_variant LIRI-JP 7 66276546 66276546 single base substitution T C downstream_gene_variant LIRI-JP 7 66279187 66279187 single base substitution T C downstream_gene_variant LUSC-KR 7 66089418 66089418 single base substitution A T upstream_gene_variant LUSC-KR 7 66100524 66100524 single base substitution C T intron_variant LUSC-KR 7 66100903 66100903 single base substitution T G intron_variant LUSC-KR 7 66100971 66100971 single base substitution T C intron_variant LUSC-KR 7 66102910 66102910 single base substitution C T intron_variant LUSC-KR 7 66104435 66104435 single base substitution A G 3_prime_UTR_variant LUSC-KR 7 66104435 66104435 single base substitution A G downstream_gene_variant LUSC-KR 7 66104435 66104435 single base substitution A G intron_variant LUSC-KR 7 66125506 66125506 single base substitution A T intron_variant LUSC-KR 7 66126905 66126905 single base substitution C G intron_variant LUSC-KR 7 66128924 66128924 single base substitution G T intron_variant LUSC-KR 7 66130646 66130646 single base substitution C T intron_variant LUSC-KR 7 66131147 66131147 single base substitution C T intron_variant LUSC-KR 7 66136169 66136169 single base substitution T G intron_variant LUSC-KR 7 66137913 66137913 single base substitution G C intron_variant LUSC-KR 7 66138408 66138408 single base substitution T C intron_variant LUSC-KR 7 66140035 66140035 single base substitution A G intron_variant LUSC-KR 7 66141193 66141193 single base substitution C T intron_variant LUSC-KR 7 66147676 66147676 single base substitution A G intron_variant LUSC-KR 7 66153008 66153008 single base substitution G T intron_variant LUSC-KR 7 66166505 66166505 single base substitution A T intron_variant LUSC-KR 7 66168103 66168103 single base substitution G T intron_variant LUSC-KR 7 66178159 66178159 single base substitution C T intron_variant LUSC-KR 7 66186674 66186674 single base substitution G T intron_variant LUSC-KR 7 66186904 66186904 single base substitution G T intron_variant LUSC-KR 7 66194848 66194848 single base substitution C T intron_variant LUSC-KR 7 66204196 66204196 single base substitution C G intron_variant LUSC-KR 7 66204196 66204196 single base substitution C G upstream_gene_variant LUSC-KR 7 66206882 66206882 single base substitution G A intron_variant LUSC-KR 7 66216034 66216034 single base substitution G T intron_variant LUSC-KR 7 66217065 66217065 single base substitution G A intron_variant LUSC-KR 7 66220943 66220943 single base substitution G C intron_variant LUSC-KR 7 66224490 66224490 single base substitution C T intron_variant LUSC-KR 7 66225448 66225448 single base substitution G T intron_variant LUSC-KR 7 66230968 66230968 single base substitution A T intron_variant LUSC-KR 7 66231901 66231901 single base substitution C T intron_variant LUSC-KR 7 66236202 66236202 single base substitution T G intron_variant LUSC-KR 7 66237132 66237132 single base substitution A G intron_variant LUSC-KR 7 66237201 66237201 single base substitution C T intron_variant LUSC-KR 7 66241636 66241636 single base substitution C T intron_variant LUSC-KR 7 66243043 66243043 single base substitution G A intron_variant LUSC-KR 7 66245297 66245297 single base substitution A G intron_variant LUSC-KR 7 66250847 66250847 single base substitution C T intron_variant LUSC-KR 7 66251681 66251681 single base substitution G A intron_variant LUSC-KR 7 66252175 66252175 single base substitution A G intron_variant LUSC-KR 7 66252389 66252389 single base substitution G T intron_variant LUSC-KR 7 66252390 66252390 single base substitution G T intron_variant LUSC-KR 7 66262309 66262309 single base substitution G A intron_variant LUSC-KR 7 66265826 66265826 single base substitution A T intron_variant LUSC-KR 7 66268825 66268825 single base substitution G A intron_variant LUSC-KR 7 66273172 66273172 single base substitution G A intron_variant LUSC-KR 7 66273556 66273556 single base substitution C T intron_variant LUSC-KR 7 66276390 66276390 single base substitution A T 3_prime_UTR_variant LUSC-KR 7 66276390 66276390 single base substitution A T downstream_gene_variant LUSC-KR 7 66278819 66278819 single base substitution G C downstream_gene_variant LUSC-KR 7 66281437 66281437 single base substitution G T downstream_gene_variant LUSC-US 7 66103962 66103962 single base substitution C T downstream_gene_variant LUSC-US 7 66103962 66103962 single base substitution C T intron_variant LUSC-US 7 66103962 66103962 single base substitution C T missense_variant P205S 613C>T LUSC-US 7 66103967 66103967 single base substitution C G downstream_gene_variant LUSC-US 7 66103967 66103967 single base substitution C G intron_variant LUSC-US 7 66103967 66103967 single base substitution C G synonymous_variant L206L 618C>G LUSC-US 7 66104107 66104107 single base substitution C T downstream_gene_variant LUSC-US 7 66104107 66104107 single base substitution C T intron_variant LUSC-US 7 66104107 66104107 single base substitution C T missense_variant S253L 758C>T LUSC-US 7 66240357 66240357 single base substitution C T 3_prime_UTR_variant LUSC-US 7 66240357 66240357 single base substitution C T missense_variant S108F 323C>T LUSC-US 7 66240357 66240357 single base substitution C T missense_variant S148F 443C>T LUSC-US 7 66270167 66270167 single base substitution G A 3_prime_UTR_variant LUSC-US 7 66270167 66270167 single base substitution G A synonymous_variant K287K 861G>A LUSC-US 7 66270167 66270167 single base substitution G A synonymous_variant K327K 981G>A LUSC-US 7 66273905 66273905 single base substitution C T 3_prime_UTR_variant LUSC-US 7 66273905 66273905 single base substitution C T synonymous_variant D370D 1110C>T LUSC-US 7 66273905 66273905 single base substitution C T synonymous_variant D410D 1230C>T MALY-DE 7 66091265 66091265 single base substitution T C upstream_gene_variant MALY-DE 7 66100989 66100989 deletion of <=200bp A - intron_variant MALY-DE 7 66110453 66110453 single base substitution G T downstream_gene_variant MALY-DE 7 66110453 66110453 single base substitution G T intron_variant MALY-DE 7 66111661 66111661 single base substitution G C downstream_gene_variant MALY-DE 7 66111661 66111661 single base substitution G C intron_variant MALY-DE 7 66114223 66114223 insertion of <=200bp - AAAAAAAA intron_variant MALY-DE 7 66119928 66119928 single base substitution G A intron_variant MALY-DE 7 66122624 66122624 single base substitution A G intron_variant MALY-DE 7 66122757 66122757 single base substitution G A intron_variant MALY-DE 7 66123673 66123673 single base substitution G A intron_variant MALY-DE 7 66127440 66127440 single base substitution G T intron_variant MALY-DE 7 66128026 66128026 single base substitution C T intron_variant MALY-DE 7 66138781 66138781 insertion of <=200bp - T intron_variant MALY-DE 7 66141063 66141063 single base substitution T G intron_variant MALY-DE 7 66154723 66154723 single base substitution A G intron_variant MALY-DE 7 66168716 66168716 single base substitution T C intron_variant MALY-DE 7 66172083 66172083 single base substitution T A intron_variant MALY-DE 7 66172856 66172856 single base substitution T G intron_variant MALY-DE 7 66175967 66175967 insertion of <=200bp - A intron_variant MALY-DE 7 66201370 66201370 single base substitution A G intron_variant MALY-DE 7 66201370 66201370 single base substitution A G upstream_gene_variant MALY-DE 7 66202039 66202040 deletion of <=200bp GA - intron_variant MALY-DE 7 66202039 66202040 deletion of <=200bp GA - upstream_gene_variant MALY-DE 7 66209720 66209720 single base substitution A G intron_variant MALY-DE 7 66212081 66212081 single base substitution C G intron_variant MALY-DE 7 66214351 66214351 single base substitution T C intron_variant MALY-DE 7 66215786 66215786 single base substitution T G intron_variant MALY-DE 7 66215875 66215875 single base substitution C T intron_variant MALY-DE 7 66222975 66222975 single base substitution A G intron_variant MALY-DE 7 66223329 66223329 single base substitution C T intron_variant MALY-DE 7 66247928 66247928 single base substitution T G intron_variant MALY-DE 7 66250470 66250470 single base substitution C T intron_variant MALY-DE 7 66270721 66270721 single base substitution G T intron_variant MALY-DE 7 66274771 66274771 single base substitution T A 3_prime_UTR_variant MALY-DE 7 66274771 66274771 single base substitution T A downstream_gene_variant MALY-DE 7 66280211 66280212 deletion of <=200bp TC - downstream_gene_variant MELA-AU 7 66088982 66088983 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 7 66090556 66090556 single base substitution G A upstream_gene_variant MELA-AU 7 66091038 66091038 single base substitution G A upstream_gene_variant MELA-AU 7 66091218 66091218 single base substitution C T upstream_gene_variant MELA-AU 7 66091849 66091849 single base substitution C T upstream_gene_variant MELA-AU 7 66091965 66091965 single base substitution C T upstream_gene_variant MELA-AU 7 66092026 66092026 single base substitution C T upstream_gene_variant MELA-AU 7 66092117 66092117 single base substitution C T upstream_gene_variant MELA-AU 7 66092698 66092698 single base substitution G A upstream_gene_variant MELA-AU 7 66092739 66092739 single base substitution G A upstream_gene_variant MELA-AU 7 66093234 66093234 single base substitution G A upstream_gene_variant MELA-AU 7 66093390 66093391 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 66095965 66095965 single base substitution C T intron_variant MELA-AU 7 66097470 66097470 single base substitution C T intron_variant MELA-AU 7 66097831 66097831 single base substitution C T intron_variant MELA-AU 7 66098442 66098442 single base substitution C T intron_variant MELA-AU 7 66098580 66098580 insertion of <=200bp - AT intron_variant MELA-AU 7 66098592 66098592 single base substitution T C intron_variant MELA-AU 7 66098676 66098676 single base substitution A C intron_variant MELA-AU 7 66099021 66099021 single base substitution A G intron_variant MELA-AU 7 66099100 66099100 single base substitution C T intron_variant MELA-AU 7 66099612 66099612 single base substitution T C intron_variant MELA-AU 7 66099629 66099630 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66099748 66099748 single base substitution T C intron_variant MELA-AU 7 66100365 66100365 single base substitution G C intron_variant MELA-AU 7 66101762 66101762 insertion of <=200bp - A intron_variant MELA-AU 7 66103078 66103078 single base substitution C T intron_variant MELA-AU 7 66103408 66103408 single base substitution C A exon_variant MELA-AU 7 66103408 66103408 single base substitution C A missense_variant L105I 313C>A MELA-AU 7 66103408 66103408 single base substitution C A synonymous_variant P161P 483C>A MELA-AU 7 66104112 66104112 single base substitution C G downstream_gene_variant MELA-AU 7 66104112 66104112 single base substitution C G intron_variant MELA-AU 7 66104112 66104112 single base substitution C G missense_variant Q255E 763C>G MELA-AU 7 66104305 66104305 single base substitution G A 3_prime_UTR_variant MELA-AU 7 66104305 66104305 single base substitution G A downstream_gene_variant MELA-AU 7 66104305 66104305 single base substitution G A intron_variant MELA-AU 7 66104693 66104693 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66104693 66104693 single base substitution C T downstream_gene_variant MELA-AU 7 66104693 66104693 single base substitution C T intron_variant MELA-AU 7 66104798 66104798 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66104798 66104798 single base substitution C T downstream_gene_variant MELA-AU 7 66104798 66104798 single base substitution C T intron_variant MELA-AU 7 66105273 66105273 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66105273 66105273 single base substitution C T downstream_gene_variant MELA-AU 7 66105273 66105273 single base substitution C T intron_variant MELA-AU 7 66106346 66106346 single base substitution T A 3_prime_UTR_variant MELA-AU 7 66106346 66106346 single base substitution T A downstream_gene_variant MELA-AU 7 66106346 66106346 single base substitution T A intron_variant MELA-AU 7 66106592 66106592 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66106592 66106592 single base substitution C T downstream_gene_variant MELA-AU 7 66106592 66106592 single base substitution C T intron_variant MELA-AU 7 66106986 66106986 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66106986 66106986 single base substitution C T downstream_gene_variant MELA-AU 7 66106986 66106986 single base substitution C T intron_variant MELA-AU 7 66107711 66107711 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66107711 66107711 single base substitution C T downstream_gene_variant MELA-AU 7 66107711 66107711 single base substitution C T intron_variant MELA-AU 7 66109876 66109876 single base substitution C T downstream_gene_variant MELA-AU 7 66109876 66109876 single base substitution C T intron_variant MELA-AU 7 66109952 66109952 single base substitution C T downstream_gene_variant MELA-AU 7 66109952 66109952 single base substitution C T intron_variant MELA-AU 7 66110162 66110162 single base substitution C T downstream_gene_variant MELA-AU 7 66110162 66110162 single base substitution C T intron_variant MELA-AU 7 66110204 66110204 single base substitution C T downstream_gene_variant MELA-AU 7 66110204 66110204 single base substitution C T intron_variant MELA-AU 7 66110221 66110221 single base substitution C T downstream_gene_variant MELA-AU 7 66110221 66110221 single base substitution C T intron_variant MELA-AU 7 66111303 66111303 single base substitution A G downstream_gene_variant MELA-AU 7 66111303 66111303 single base substitution A G intron_variant MELA-AU 7 66111401 66111401 single base substitution T G downstream_gene_variant MELA-AU 7 66111401 66111401 single base substitution T G intron_variant MELA-AU 7 66111669 66111669 single base substitution T A downstream_gene_variant MELA-AU 7 66111669 66111669 single base substitution T A intron_variant MELA-AU 7 66112332 66112332 single base substitution G A downstream_gene_variant MELA-AU 7 66112332 66112332 single base substitution G A intron_variant MELA-AU 7 66112668 66112668 insertion of <=200bp - T downstream_gene_variant MELA-AU 7 66112668 66112668 insertion of <=200bp - T intron_variant MELA-AU 7 66112740 66112740 single base substitution C T downstream_gene_variant MELA-AU 7 66112740 66112740 single base substitution C T intron_variant MELA-AU 7 66113114 66113114 single base substitution C T intron_variant MELA-AU 7 66113399 66113399 single base substitution C T intron_variant MELA-AU 7 66113746 66113746 single base substitution C T intron_variant MELA-AU 7 66113871 66113871 single base substitution C G intron_variant MELA-AU 7 66113916 66113916 single base substitution C G intron_variant MELA-AU 7 66114130 66114130 single base substitution G A intron_variant MELA-AU 7 66115401 66115401 single base substitution T C intron_variant MELA-AU 7 66115582 66115582 single base substitution A G intron_variant MELA-AU 7 66116751 66116751 single base substitution C T intron_variant MELA-AU 7 66117490 66117490 single base substitution T A intron_variant MELA-AU 7 66117666 66117667 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 66119046 66119046 single base substitution T A intron_variant MELA-AU 7 66119073 66119073 single base substitution A T intron_variant MELA-AU 7 66119439 66119439 single base substitution G A intron_variant MELA-AU 7 66119685 66119686 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 7 66120497 66120497 single base substitution C T intron_variant MELA-AU 7 66121148 66121148 single base substitution G A intron_variant MELA-AU 7 66121653 66121653 deletion of <=200bp A - intron_variant MELA-AU 7 66122690 66122690 single base substitution C T intron_variant MELA-AU 7 66123400 66123400 single base substitution A T intron_variant MELA-AU 7 66123600 66123600 single base substitution C T intron_variant MELA-AU 7 66124598 66124598 single base substitution C T intron_variant MELA-AU 7 66126619 66126619 single base substitution T C intron_variant MELA-AU 7 66126700 66126700 single base substitution C T intron_variant MELA-AU 7 66127275 66127275 single base substitution G A intron_variant MELA-AU 7 66128390 66128390 single base substitution A C intron_variant MELA-AU 7 66129828 66129828 single base substitution C T intron_variant MELA-AU 7 66130004 66130004 single base substitution C T intron_variant MELA-AU 7 66130239 66130239 single base substitution C T intron_variant MELA-AU 7 66130341 66130341 single base substitution A G intron_variant MELA-AU 7 66131449 66131449 single base substitution C T intron_variant MELA-AU 7 66131482 66131482 single base substitution C A intron_variant MELA-AU 7 66132762 66132762 single base substitution C T intron_variant MELA-AU 7 66133044 66133044 single base substitution C A intron_variant MELA-AU 7 66133310 66133310 single base substitution C T intron_variant MELA-AU 7 66133333 66133333 single base substitution C T intron_variant MELA-AU 7 66133341 66133341 single base substitution C T intron_variant MELA-AU 7 66133522 66133522 single base substitution G A intron_variant MELA-AU 7 66133730 66133730 single base substitution C T intron_variant MELA-AU 7 66133792 66133792 single base substitution G A intron_variant MELA-AU 7 66134102 66134103 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 7 66134314 66134314 single base substitution G A intron_variant MELA-AU 7 66134440 66134440 single base substitution T C intron_variant MELA-AU 7 66134494 66134494 single base substitution C T intron_variant MELA-AU 7 66134724 66134724 single base substitution C T intron_variant MELA-AU 7 66134740 66134740 single base substitution C A intron_variant MELA-AU 7 66134897 66134897 single base substitution C T intron_variant MELA-AU 7 66135163 66135163 single base substitution C T intron_variant MELA-AU 7 66135883 66135883 single base substitution C T intron_variant MELA-AU 7 66136059 66136059 single base substitution C T intron_variant MELA-AU 7 66136279 66136279 single base substitution C T intron_variant MELA-AU 7 66136400 66136401 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 66137763 66137763 single base substitution C T intron_variant MELA-AU 7 66139181 66139181 single base substitution T C intron_variant MELA-AU 7 66139356 66139356 single base substitution G C intron_variant MELA-AU 7 66142161 66142178 deletion of <=200bp AATCTAATTTAAAAATTT - intron_variant MELA-AU 7 66145035 66145035 single base substitution A G intron_variant MELA-AU 7 66145662 66145663 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 66145742 66145742 single base substitution T A intron_variant MELA-AU 7 66145845 66145845 single base substitution G A intron_variant MELA-AU 7 66145996 66145996 single base substitution G A intron_variant MELA-AU 7 66146987 66146987 single base substitution C T intron_variant MELA-AU 7 66147100 66147100 single base substitution G A intron_variant MELA-AU 7 66147187 66147187 single base substitution G A intron_variant MELA-AU 7 66147510 66147510 single base substitution G T intron_variant MELA-AU 7 66147804 66147804 single base substitution G A intron_variant MELA-AU 7 66148133 66148133 single base substitution C T intron_variant MELA-AU 7 66148439 66148439 single base substitution C T intron_variant MELA-AU 7 66148752 66148752 single base substitution G A intron_variant MELA-AU 7 66149313 66149313 single base substitution C T intron_variant MELA-AU 7 66149947 66149947 single base substitution C T intron_variant MELA-AU 7 66151185 66151185 single base substitution T G intron_variant MELA-AU 7 66151458 66151458 single base substitution C T intron_variant MELA-AU 7 66151571 66151571 single base substitution T C intron_variant MELA-AU 7 66151899 66151899 single base substitution C T intron_variant MELA-AU 7 66152238 66152238 single base substitution A G intron_variant MELA-AU 7 66152735 66152735 single base substitution G T intron_variant MELA-AU 7 66152871 66152871 single base substitution A C intron_variant MELA-AU 7 66152956 66152956 single base substitution C T intron_variant MELA-AU 7 66153026 66153026 single base substitution C T intron_variant MELA-AU 7 66153098 66153098 single base substitution A G intron_variant MELA-AU 7 66153327 66153327 single base substitution C T intron_variant MELA-AU 7 66153476 66153476 single base substitution C T intron_variant MELA-AU 7 66153562 66153562 single base substitution C T intron_variant MELA-AU 7 66154431 66154431 single base substitution A T intron_variant MELA-AU 7 66155572 66155572 single base substitution C T intron_variant MELA-AU 7 66155820 66155820 single base substitution C T intron_variant MELA-AU 7 66156077 66156077 single base substitution C T intron_variant MELA-AU 7 66156616 66156616 single base substitution T G intron_variant MELA-AU 7 66156627 66156627 single base substitution T C intron_variant MELA-AU 7 66157065 66157065 single base substitution C T intron_variant MELA-AU 7 66157302 66157302 single base substitution C T intron_variant MELA-AU 7 66158086 66158087 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66158090 66158090 single base substitution G A intron_variant MELA-AU 7 66158193 66158193 single base substitution C T intron_variant MELA-AU 7 66158315 66158315 single base substitution C T intron_variant MELA-AU 7 66158370 66158370 single base substitution C T intron_variant MELA-AU 7 66158508 66158508 single base substitution T A intron_variant MELA-AU 7 66158520 66158520 single base substitution C T intron_variant MELA-AU 7 66158573 66158573 single base substitution C T intron_variant MELA-AU 7 66159391 66159392 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 66159845 66159845 single base substitution C T intron_variant MELA-AU 7 66159974 66159974 single base substitution A C intron_variant MELA-AU 7 66160599 66160599 single base substitution G A intron_variant MELA-AU 7 66162374 66162374 single base substitution C T intron_variant MELA-AU 7 66162483 66162483 single base substitution C T intron_variant MELA-AU 7 66162486 66162486 single base substitution C T intron_variant MELA-AU 7 66162530 66162530 single base substitution C T intron_variant MELA-AU 7 66162911 66162911 single base substitution C T intron_variant MELA-AU 7 66165162 66165162 single base substitution C T intron_variant MELA-AU 7 66165414 66165414 single base substitution C T intron_variant MELA-AU 7 66165478 66165478 single base substitution G A intron_variant MELA-AU 7 66165980 66165980 single base substitution C T intron_variant MELA-AU 7 66166893 66166893 single base substitution T C intron_variant MELA-AU 7 66167577 66167577 single base substitution C T intron_variant MELA-AU 7 66168163 66168163 single base substitution C T intron_variant MELA-AU 7 66168248 66168248 single base substitution C T intron_variant MELA-AU 7 66168377 66168377 single base substitution T G intron_variant MELA-AU 7 66168607 66168607 single base substitution C T intron_variant MELA-AU 7 66168781 66168781 single base substitution G A intron_variant MELA-AU 7 66169661 66169661 single base substitution G A intron_variant MELA-AU 7 66169680 66169680 single base substitution C A intron_variant MELA-AU 7 66169680 66169680 single base substitution C T intron_variant MELA-AU 7 66169722 66169722 single base substitution C T intron_variant MELA-AU 7 66169877 66169877 single base substitution C T intron_variant MELA-AU 7 66170417 66170417 single base substitution C T intron_variant MELA-AU 7 66170980 66170980 single base substitution C T intron_variant MELA-AU 7 66171124 66171124 single base substitution C T intron_variant MELA-AU 7 66171186 66171186 single base substitution G A intron_variant MELA-AU 7 66171415 66171415 single base substitution T G intron_variant MELA-AU 7 66171576 66171576 single base substitution T A intron_variant MELA-AU 7 66171724 66171724 single base substitution C T intron_variant MELA-AU 7 66171818 66171818 single base substitution G A intron_variant MELA-AU 7 66172194 66172194 single base substitution C T intron_variant MELA-AU 7 66172393 66172393 single base substitution A T intron_variant MELA-AU 7 66172570 66172570 single base substitution G A intron_variant MELA-AU 7 66172733 66172733 single base substitution C T intron_variant MELA-AU 7 66173124 66173124 single base substitution C T intron_variant MELA-AU 7 66173218 66173218 single base substitution C T intron_variant MELA-AU 7 66173294 66173294 single base substitution A C intron_variant MELA-AU 7 66173301 66173301 single base substitution C T intron_variant MELA-AU 7 66173365 66173365 single base substitution C T intron_variant MELA-AU 7 66174192 66174192 single base substitution C T intron_variant MELA-AU 7 66174379 66174379 single base substitution C T intron_variant MELA-AU 7 66174540 66174540 single base substitution C T intron_variant MELA-AU 7 66174804 66174804 single base substitution T G intron_variant MELA-AU 7 66175455 66175455 single base substitution C T intron_variant MELA-AU 7 66175504 66175504 single base substitution C T intron_variant MELA-AU 7 66175690 66175690 single base substitution C T intron_variant MELA-AU 7 66176142 66176142 single base substitution C T intron_variant MELA-AU 7 66177003 66177003 single base substitution C T intron_variant MELA-AU 7 66177518 66177518 single base substitution C T intron_variant MELA-AU 7 66177635 66177635 single base substitution C T intron_variant MELA-AU 7 66177655 66177655 single base substitution C T intron_variant MELA-AU 7 66177787 66177787 single base substitution C T intron_variant MELA-AU 7 66177799 66177799 single base substitution C T intron_variant MELA-AU 7 66177877 66177877 single base substitution C T intron_variant MELA-AU 7 66178325 66178325 single base substitution C T intron_variant MELA-AU 7 66178350 66178350 single base substitution C T intron_variant MELA-AU 7 66178364 66178364 single base substitution C T intron_variant MELA-AU 7 66178634 66178634 single base substitution G A intron_variant MELA-AU 7 66179124 66179124 single base substitution G A intron_variant MELA-AU 7 66179565 66179565 single base substitution C T intron_variant MELA-AU 7 66179876 66179876 single base substitution C T intron_variant MELA-AU 7 66179977 66179977 single base substitution C T intron_variant MELA-AU 7 66180306 66180306 single base substitution C T intron_variant MELA-AU 7 66180419 66180419 single base substitution T C intron_variant MELA-AU 7 66180441 66180441 single base substitution C T intron_variant MELA-AU 7 66180455 66180455 single base substitution C T intron_variant MELA-AU 7 66180533 66180533 single base substitution C T intron_variant MELA-AU 7 66181096 66181096 single base substitution C T intron_variant MELA-AU 7 66181154 66181154 single base substitution C T intron_variant MELA-AU 7 66181201 66181201 single base substitution T C intron_variant MELA-AU 7 66181224 66181224 single base substitution T A intron_variant MELA-AU 7 66181228 66181228 single base substitution C T intron_variant MELA-AU 7 66181639 66181639 single base substitution T C intron_variant MELA-AU 7 66181647 66181647 single base substitution T A intron_variant MELA-AU 7 66182772 66182772 single base substitution C T intron_variant MELA-AU 7 66182972 66182972 single base substitution T C intron_variant MELA-AU 7 66183116 66183116 single base substitution G A intron_variant MELA-AU 7 66183457 66183457 single base substitution C T intron_variant MELA-AU 7 66183818 66183818 single base substitution C T intron_variant MELA-AU 7 66184058 66184058 single base substitution C T intron_variant MELA-AU 7 66184765 66184765 single base substitution C G intron_variant MELA-AU 7 66185187 66185187 single base substitution T A intron_variant MELA-AU 7 66185990 66185990 single base substitution C T intron_variant MELA-AU 7 66186069 66186069 single base substitution C T intron_variant MELA-AU 7 66186628 66186628 single base substitution C T intron_variant MELA-AU 7 66186657 66186657 single base substitution C G intron_variant MELA-AU 7 66186818 66186818 single base substitution C T intron_variant MELA-AU 7 66186968 66186968 single base substitution C T intron_variant MELA-AU 7 66187176 66187176 single base substitution C T intron_variant MELA-AU 7 66187420 66187420 single base substitution C T intron_variant MELA-AU 7 66187917 66187917 single base substitution T C intron_variant MELA-AU 7 66187986 66187986 single base substitution C T intron_variant MELA-AU 7 66189138 66189138 single base substitution C T intron_variant MELA-AU 7 66189564 66189564 single base substitution C T intron_variant MELA-AU 7 66189749 66189749 single base substitution T C intron_variant MELA-AU 7 66190022 66190022 single base substitution C T intron_variant MELA-AU 7 66190150 66190150 single base substitution C T intron_variant MELA-AU 7 66190324 66190324 single base substitution C T intron_variant MELA-AU 7 66190399 66190399 single base substitution C T intron_variant MELA-AU 7 66190602 66190602 single base substitution C T intron_variant MELA-AU 7 66191150 66191150 single base substitution T C intron_variant MELA-AU 7 66191653 66191653 single base substitution C T intron_variant MELA-AU 7 66192368 66192368 single base substitution C T intron_variant MELA-AU 7 66192968 66192968 single base substitution C T intron_variant MELA-AU 7 66193011 66193011 single base substitution C T intron_variant MELA-AU 7 66193138 66193138 single base substitution G A intron_variant MELA-AU 7 66193648 66193648 single base substitution C T intron_variant MELA-AU 7 66194586 66194586 single base substitution C T intron_variant MELA-AU 7 66194731 66194731 single base substitution C T intron_variant MELA-AU 7 66195135 66195135 single base substitution C T intron_variant MELA-AU 7 66195735 66195735 single base substitution G A intron_variant MELA-AU 7 66195765 66195765 single base substitution G A intron_variant MELA-AU 7 66195899 66195899 single base substitution C T intron_variant MELA-AU 7 66195910 66195910 single base substitution G A intron_variant MELA-AU 7 66196412 66196412 single base substitution G A intron_variant MELA-AU 7 66196731 66196731 single base substitution T G intron_variant MELA-AU 7 66197294 66197294 single base substitution C T intron_variant MELA-AU 7 66198170 66198170 single base substitution G A intron_variant MELA-AU 7 66198769 66198769 single base substitution C T intron_variant MELA-AU 7 66199512 66199512 single base substitution A C intron_variant MELA-AU 7 66201800 66201800 single base substitution T C intron_variant MELA-AU 7 66201800 66201800 single base substitution T C upstream_gene_variant MELA-AU 7 66205311 66205312 deletion of <=200bp AG - intron_variant MELA-AU 7 66205311 66205312 deletion of <=200bp AG - upstream_gene_variant MELA-AU 7 66205592 66205592 single base substitution C T intron_variant MELA-AU 7 66205592 66205592 single base substitution C T upstream_gene_variant MELA-AU 7 66205653 66205653 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 7 66205653 66205653 single base substitution C T intron_variant MELA-AU 7 66205653 66205653 single base substitution C T upstream_gene_variant MELA-AU 7 66205664 66205665 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 7 66205664 66205665 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66205664 66205665 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 66207313 66207313 single base substitution C T intron_variant MELA-AU 7 66208226 66208226 single base substitution C T intron_variant MELA-AU 7 66208344 66208345 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66208345 66208345 single base substitution C T intron_variant MELA-AU 7 66208736 66208736 single base substitution C T intron_variant MELA-AU 7 66209289 66209289 single base substitution G A intron_variant MELA-AU 7 66209376 66209376 single base substitution C T intron_variant MELA-AU 7 66209485 66209485 single base substitution C T intron_variant MELA-AU 7 66210199 66210199 single base substitution C T intron_variant MELA-AU 7 66210468 66210468 single base substitution C T intron_variant MELA-AU 7 66211493 66211493 single base substitution A T intron_variant MELA-AU 7 66211511 66211511 single base substitution C T intron_variant MELA-AU 7 66212134 66212134 single base substitution A G intron_variant MELA-AU 7 66212265 66212265 single base substitution C T intron_variant MELA-AU 7 66212525 66212525 single base substitution A G intron_variant MELA-AU 7 66212649 66212649 single base substitution T C intron_variant MELA-AU 7 66212689 66212689 single base substitution C T intron_variant MELA-AU 7 66212727 66212727 single base substitution C T intron_variant MELA-AU 7 66212811 66212811 single base substitution C T intron_variant MELA-AU 7 66213099 66213099 single base substitution C T intron_variant MELA-AU 7 66213473 66213473 single base substitution T C intron_variant MELA-AU 7 66213560 66213560 single base substitution C T intron_variant MELA-AU 7 66213685 66213685 single base substitution C T intron_variant MELA-AU 7 66215387 66215387 single base substitution A C intron_variant MELA-AU 7 66215683 66215683 single base substitution C T intron_variant MELA-AU 7 66215969 66215969 single base substitution C T intron_variant MELA-AU 7 66216508 66216508 single base substitution C T intron_variant MELA-AU 7 66217183 66217183 single base substitution A T intron_variant MELA-AU 7 66217418 66217418 single base substitution T C intron_variant MELA-AU 7 66217487 66217487 single base substitution A T intron_variant MELA-AU 7 66218215 66218215 single base substitution C T intron_variant MELA-AU 7 66218875 66218875 single base substitution G T intron_variant MELA-AU 7 66219513 66219513 single base substitution G T intron_variant MELA-AU 7 66220491 66220491 single base substitution A T intron_variant MELA-AU 7 66221263 66221263 single base substitution C T intron_variant MELA-AU 7 66222347 66222347 single base substitution A T intron_variant MELA-AU 7 66222687 66222687 single base substitution C T intron_variant MELA-AU 7 66222850 66222850 single base substitution G A intron_variant MELA-AU 7 66222958 66222958 single base substitution C T intron_variant MELA-AU 7 66223038 66223038 single base substitution C T intron_variant MELA-AU 7 66223045 66223045 single base substitution G C intron_variant MELA-AU 7 66223298 66223299 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66223299 66223299 single base substitution C T intron_variant MELA-AU 7 66223630 66223630 single base substitution A C intron_variant MELA-AU 7 66223911 66223911 single base substitution C T intron_variant MELA-AU 7 66224225 66224226 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66225406 66225406 single base substitution C T intron_variant MELA-AU 7 66227079 66227079 single base substitution C T intron_variant MELA-AU 7 66227405 66227405 single base substitution C T intron_variant MELA-AU 7 66227491 66227491 single base substitution C T intron_variant MELA-AU 7 66228293 66228293 single base substitution C G intron_variant MELA-AU 7 66228966 66228966 single base substitution A G intron_variant MELA-AU 7 66229086 66229086 single base substitution G A intron_variant MELA-AU 7 66229424 66229424 single base substitution C T intron_variant MELA-AU 7 66231010 66231010 single base substitution G A intron_variant MELA-AU 7 66231075 66231075 single base substitution C T intron_variant MELA-AU 7 66231775 66231775 single base substitution G A intron_variant MELA-AU 7 66231810 66231810 single base substitution C T intron_variant MELA-AU 7 66231954 66231954 single base substitution C T intron_variant MELA-AU 7 66231960 66231960 single base substitution C T intron_variant MELA-AU 7 66233338 66233338 single base substitution C T intron_variant MELA-AU 7 66233668 66233668 single base substitution C T intron_variant MELA-AU 7 66233706 66233706 single base substitution A T intron_variant MELA-AU 7 66233769 66233769 single base substitution C T intron_variant MELA-AU 7 66234988 66234988 single base substitution C T intron_variant MELA-AU 7 66237120 66237120 single base substitution C T intron_variant MELA-AU 7 66237436 66237436 single base substitution C T intron_variant MELA-AU 7 66237631 66237631 single base substitution C T intron_variant MELA-AU 7 66237876 66237876 single base substitution G A intron_variant MELA-AU 7 66238039 66238039 single base substitution G A intron_variant MELA-AU 7 66238306 66238306 single base substitution C T intron_variant MELA-AU 7 66238622 66238622 single base substitution C T intron_variant MELA-AU 7 66238813 66238813 single base substitution C T intron_variant MELA-AU 7 66239050 66239050 single base substitution C T intron_variant MELA-AU 7 66239062 66239062 single base substitution C T intron_variant MELA-AU 7 66239174 66239174 single base substitution C T intron_variant MELA-AU 7 66239593 66239593 single base substitution C T intron_variant MELA-AU 7 66240169 66240170 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66240198 66240198 single base substitution C T intron_variant MELA-AU 7 66242808 66242808 single base substitution C T intron_variant MELA-AU 7 66242870 66242870 single base substitution C T intron_variant MELA-AU 7 66243027 66243027 single base substitution C T intron_variant MELA-AU 7 66243041 66243041 single base substitution T A intron_variant MELA-AU 7 66243214 66243214 single base substitution C A intron_variant MELA-AU 7 66243769 66243769 single base substitution C T intron_variant MELA-AU 7 66243962 66243962 single base substitution T G intron_variant MELA-AU 7 66243982 66243982 single base substitution A G intron_variant MELA-AU 7 66244172 66244172 single base substitution C T intron_variant MELA-AU 7 66244178 66244178 single base substitution C T intron_variant MELA-AU 7 66244253 66244253 single base substitution G A intron_variant MELA-AU 7 66244449 66244449 single base substitution C T intron_variant MELA-AU 7 66244581 66244581 single base substitution C T intron_variant MELA-AU 7 66244586 66244586 single base substitution G A intron_variant MELA-AU 7 66244775 66244776 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66245283 66245283 single base substitution T G intron_variant MELA-AU 7 66245300 66245300 single base substitution C T intron_variant MELA-AU 7 66245361 66245361 single base substitution C T intron_variant MELA-AU 7 66246381 66246381 single base substitution G T intron_variant MELA-AU 7 66246591 66246591 single base substitution G T intron_variant MELA-AU 7 66246717 66246717 single base substitution C T intron_variant MELA-AU 7 66246770 66246770 single base substitution C T intron_variant MELA-AU 7 66247813 66247813 single base substitution C T intron_variant MELA-AU 7 66247885 66247885 single base substitution G A intron_variant MELA-AU 7 66247982 66247982 single base substitution C T intron_variant MELA-AU 7 66248273 66248273 single base substitution C T intron_variant MELA-AU 7 66248958 66248958 single base substitution T C intron_variant MELA-AU 7 66248993 66248993 single base substitution C T intron_variant MELA-AU 7 66250069 66250069 single base substitution C T intron_variant MELA-AU 7 66250702 66250702 single base substitution A T intron_variant MELA-AU 7 66250743 66250743 single base substitution C T intron_variant MELA-AU 7 66250985 66250985 single base substitution C T intron_variant MELA-AU 7 66251636 66251636 single base substitution C T intron_variant MELA-AU 7 66252126 66252126 single base substitution C T intron_variant MELA-AU 7 66252211 66252211 single base substitution G A intron_variant MELA-AU 7 66252408 66252409 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66252574 66252574 single base substitution C T intron_variant MELA-AU 7 66253000 66253000 single base substitution C T intron_variant MELA-AU 7 66254032 66254032 single base substitution G A intron_variant MELA-AU 7 66254618 66254618 single base substitution C T intron_variant MELA-AU 7 66254652 66254652 single base substitution G A intron_variant MELA-AU 7 66254790 66254791 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 66255329 66255329 single base substitution C T intron_variant MELA-AU 7 66256084 66256084 single base substitution C T intron_variant MELA-AU 7 66256752 66256752 single base substitution A C intron_variant MELA-AU 7 66257133 66257133 single base substitution C T intron_variant MELA-AU 7 66257546 66257546 single base substitution C T intron_variant MELA-AU 7 66258160 66258160 single base substitution T A intron_variant MELA-AU 7 66258308 66258308 single base substitution C T intron_variant MELA-AU 7 66258800 66258800 single base substitution T C intron_variant MELA-AU 7 66258954 66258954 single base substitution C T intron_variant MELA-AU 7 66259278 66259278 single base substitution C T intron_variant MELA-AU 7 66260195 66260195 single base substitution C T intron_variant MELA-AU 7 66260280 66260280 single base substitution C T intron_variant MELA-AU 7 66260807 66260807 single base substitution C T intron_variant MELA-AU 7 66261449 66261449 single base substitution G A intron_variant MELA-AU 7 66261472 66261472 single base substitution C T intron_variant MELA-AU 7 66262034 66262034 single base substitution C T intron_variant MELA-AU 7 66262045 66262045 single base substitution G T intron_variant MELA-AU 7 66263367 66263367 single base substitution C T intron_variant MELA-AU 7 66264067 66264067 single base substitution C T intron_variant MELA-AU 7 66264167 66264167 single base substitution G C intron_variant MELA-AU 7 66264718 66264718 single base substitution C T intron_variant MELA-AU 7 66264944 66264944 single base substitution C T intron_variant MELA-AU 7 66265097 66265097 single base substitution C T intron_variant MELA-AU 7 66265347 66265347 single base substitution C T intron_variant MELA-AU 7 66265594 66265594 single base substitution C T intron_variant MELA-AU 7 66265617 66265617 single base substitution C T intron_variant MELA-AU 7 66266297 66266297 single base substitution C T intron_variant MELA-AU 7 66266438 66266438 single base substitution C T intron_variant MELA-AU 7 66268579 66268579 single base substitution G A intron_variant MELA-AU 7 66268673 66268673 single base substitution C T intron_variant MELA-AU 7 66268786 66268786 single base substitution G A intron_variant MELA-AU 7 66268908 66268908 single base substitution C T intron_variant MELA-AU 7 66269519 66269519 single base substitution C T intron_variant MELA-AU 7 66270251 66270251 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66270251 66270251 single base substitution C T synonymous_variant F315F 945C>T MELA-AU 7 66270251 66270251 single base substitution C T synonymous_variant F355F 1065C>T MELA-AU 7 66270462 66270462 single base substitution C T intron_variant MELA-AU 7 66270990 66270990 single base substitution C T intron_variant MELA-AU 7 66271817 66271817 single base substitution G A intron_variant MELA-AU 7 66272284 66272284 single base substitution C T intron_variant MELA-AU 7 66272807 66272807 single base substitution T G intron_variant MELA-AU 7 66272809 66272809 single base substitution T C intron_variant MELA-AU 7 66272887 66272887 single base substitution C T intron_variant MELA-AU 7 66273326 66273326 single base substitution C T intron_variant MELA-AU 7 66273839 66273839 single base substitution C T intron_variant MELA-AU 7 66273921 66273921 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66273921 66273921 single base substitution C T synonymous_variant L376L 1126C>T MELA-AU 7 66273921 66273921 single base substitution C T synonymous_variant L416L 1246C>T MELA-AU 7 66274113 66274113 single base substitution G A 3_prime_UTR_variant MELA-AU 7 66274113 66274113 single base substitution G A missense_variant D440N 1318G>A MELA-AU 7 66274113 66274113 single base substitution G A missense_variant D480N 1438G>A MELA-AU 7 66274521 66274521 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66274521 66274521 single base substitution C T downstream_gene_variant MELA-AU 7 66274534 66274534 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66274534 66274534 single base substitution C T downstream_gene_variant MELA-AU 7 66275245 66275246 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 7 66275245 66275246 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 66275396 66275396 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66275396 66275396 single base substitution C T downstream_gene_variant MELA-AU 7 66275438 66275438 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66275438 66275438 single base substitution C T downstream_gene_variant MELA-AU 7 66276172 66276172 single base substitution C A 3_prime_UTR_variant MELA-AU 7 66276172 66276172 single base substitution C A downstream_gene_variant MELA-AU 7 66276245 66276245 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66276245 66276245 single base substitution C T downstream_gene_variant MELA-AU 7 66276301 66276301 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66276301 66276301 single base substitution C T downstream_gene_variant MELA-AU 7 66276434 66276434 single base substitution C T 3_prime_UTR_variant MELA-AU 7 66276434 66276434 single base substitution C T downstream_gene_variant MELA-AU 7 66277877 66277877 single base substitution C T downstream_gene_variant MELA-AU 7 66278206 66278206 single base substitution C T downstream_gene_variant MELA-AU 7 66278295 66278295 single base substitution C T downstream_gene_variant MELA-AU 7 66278744 66278744 single base substitution A G downstream_gene_variant MELA-AU 7 66279154 66279154 single base substitution C T downstream_gene_variant MELA-AU 7 66279889 66279889 single base substitution C T downstream_gene_variant MELA-AU 7 66280848 66280848 single base substitution C T downstream_gene_variant MELA-AU 7 66281411 66281411 single base substitution C T downstream_gene_variant ORCA-IN 7 66099601 66099601 single base substitution C A intron_variant ORCA-IN 7 66103373 66103373 single base substitution G T exon_variant ORCA-IN 7 66103373 66103373 single base substitution G T missense_variant R93L 278G>T ORCA-IN 7 66103373 66103373 single base substitution G T stop_gained E150* 448G>T ORCA-IN 7 66103873 66103873 single base substitution G A exon_variant ORCA-IN 7 66103873 66103873 single base substitution G A missense_variant R175Q 524G>A ORCA-IN 7 66103873 66103873 single base substitution G A synonymous_variant P118P 354G>A ORCA-IN 7 66119400 66119400 single base substitution C T intron_variant ORCA-IN 7 66129362 66129362 single base substitution T C intron_variant ORCA-IN 7 66149300 66149300 single base substitution G A intron_variant ORCA-IN 7 66152678 66152678 single base substitution T C intron_variant ORCA-IN 7 66170057 66170057 single base substitution C A intron_variant ORCA-IN 7 66177856 66177856 single base substitution C A intron_variant ORCA-IN 7 66190914 66190914 single base substitution C T intron_variant ORCA-IN 7 66198338 66198338 single base substitution G C intron_variant ORCA-IN 7 66203009 66203010 deletion of <=200bp TG - intron_variant ORCA-IN 7 66203009 66203010 deletion of <=200bp TG - upstream_gene_variant ORCA-IN 7 66207819 66207819 single base substitution C A intron_variant ORCA-IN 7 66222189 66222189 single base substitution C T intron_variant ORCA-IN 7 66232268 66232268 single base substitution G C intron_variant ORCA-IN 7 66250599 66250599 single base substitution C T intron_variant ORCA-IN 7 66256883 66256883 single base substitution G A intron_variant OV-AU 7 66089647 66089647 single base substitution T C upstream_gene_variant OV-AU 7 66094348 66094348 single base substitution C T intron_variant OV-AU 7 66095692 66095692 single base substitution G A intron_variant OV-AU 7 66096280 66096280 single base substitution T G intron_variant OV-AU 7 66099417 66099417 single base substitution C T intron_variant OV-AU 7 66104069 66104069 single base substitution T A downstream_gene_variant OV-AU 7 66104069 66104069 single base substitution T A intron_variant OV-AU 7 66104069 66104069 single base substitution T A missense_variant D240E 720T>A OV-AU 7 66123633 66123633 single base substitution C T intron_variant OV-AU 7 66127493 66127493 single base substitution C G intron_variant OV-AU 7 66130748 66130748 single base substitution T G intron_variant OV-AU 7 66140623 66140623 single base substitution A G intron_variant OV-AU 7 66145396 66145396 single base substitution T A intron_variant OV-AU 7 66148299 66148299 single base substitution C T intron_variant OV-AU 7 66151161 66151161 single base substitution G A intron_variant OV-AU 7 66154650 66154650 single base substitution C T intron_variant OV-AU 7 66162090 66162090 single base substitution G C intron_variant OV-AU 7 66167781 66167781 single base substitution A G intron_variant OV-AU 7 66168649 66168649 single base substitution T C intron_variant OV-AU 7 66172456 66172456 single base substitution G A intron_variant OV-AU 7 66173808 66173808 single base substitution T A intron_variant OV-AU 7 66177994 66177994 single base substitution G C intron_variant OV-AU 7 66178834 66178834 single base substitution C G intron_variant OV-AU 7 66180306 66180306 single base substitution C A intron_variant OV-AU 7 66185190 66185190 single base substitution T A intron_variant OV-AU 7 66194521 66194521 single base substitution C G intron_variant OV-AU 7 66196505 66196505 single base substitution A G intron_variant OV-AU 7 66202973 66202973 single base substitution A G intron_variant OV-AU 7 66202973 66202973 single base substitution A G upstream_gene_variant OV-AU 7 66205640 66205640 single base substitution C G intron_variant OV-AU 7 66205640 66205640 single base substitution C G upstream_gene_variant OV-AU 7 66205873 66205873 single base substitution T G intron_variant OV-AU 7 66212264 66212264 single base substitution T C intron_variant OV-AU 7 66218400 66218400 single base substitution A T intron_variant OV-AU 7 66219706 66219706 single base substitution A C intron_variant OV-AU 7 66224481 66224481 single base substitution G A intron_variant OV-AU 7 66228051 66228051 single base substitution C T intron_variant OV-AU 7 66232030 66232030 single base substitution C T intron_variant OV-AU 7 66234137 66234137 single base substitution G C intron_variant OV-AU 7 66239610 66239610 single base substitution G C intron_variant OV-AU 7 66248726 66248726 single base substitution A G 3_prime_UTR_variant OV-AU 7 66248726 66248726 single base substitution A G synonymous_variant R137R 411A>G OV-AU 7 66248726 66248726 single base substitution A G synonymous_variant R177R 531A>G OV-AU 7 66259325 66259325 single base substitution T C intron_variant OV-AU 7 66262320 66262320 single base substitution A T intron_variant OV-AU 7 66265828 66265828 single base substitution C T intron_variant OV-AU 7 66266073 66266073 single base substitution C T intron_variant OV-AU 7 66271821 66271821 single base substitution G A intron_variant OV-US 7 66103879 66103879 single base substitution G A exon_variant OV-US 7 66103879 66103879 single base substitution G A missense_variant R177H 530G>A OV-US 7 66103879 66103879 single base substitution G A synonymous_variant A120A 360G>A PACA-AU 7 66099129 66099129 single base substitution A G intron_variant PACA-AU 7 66102117 66102117 single base substitution G T intron_variant PACA-AU 7 66104235 66104235 single base substitution G A 3_prime_UTR_variant PACA-AU 7 66104235 66104235 single base substitution G A downstream_gene_variant PACA-AU 7 66104235 66104235 single base substitution G A intron_variant PACA-AU 7 66105619 66105619 single base substitution G A 3_prime_UTR_variant PACA-AU 7 66105619 66105619 single base substitution G A downstream_gene_variant PACA-AU 7 66105619 66105619 single base substitution G A intron_variant PACA-AU 7 66105787 66105787 single base substitution C T 3_prime_UTR_variant PACA-AU 7 66105787 66105787 single base substitution C T downstream_gene_variant PACA-AU 7 66105787 66105787 single base substitution C T intron_variant PACA-AU 7 66113082 66113082 single base substitution G C intron_variant PACA-AU 7 66117369 66117369 single base substitution A C intron_variant PACA-AU 7 66119725 66119725 single base substitution C G intron_variant PACA-AU 7 66120214 66120214 single base substitution G A intron_variant PACA-AU 7 66126600 66126600 single base substitution A G intron_variant PACA-AU 7 66126756 66126756 single base substitution A G intron_variant PACA-AU 7 66128754 66128754 single base substitution A G intron_variant PACA-AU 7 66128990 66128990 single base substitution G C intron_variant PACA-AU 7 66129219 66129219 single base substitution T C intron_variant PACA-AU 7 66138338 66138338 single base substitution T C intron_variant PACA-AU 7 66140361 66140361 single base substitution G A intron_variant PACA-AU 7 66145432 66145434 deletion of <=200bp TGT - intron_variant PACA-AU 7 66145482 66145482 single base substitution C G intron_variant PACA-AU 7 66149116 66149116 single base substitution A T intron_variant PACA-AU 7 66149260 66149260 single base substitution G A intron_variant PACA-AU 7 66150457 66150457 single base substitution C T intron_variant PACA-AU 7 66154933 66154933 single base substitution C T intron_variant PACA-AU 7 66157885 66157885 deletion of <=200bp C - intron_variant PACA-AU 7 66159683 66159683 single base substitution A G intron_variant PACA-AU 7 66166505 66166505 insertion of <=200bp - A intron_variant PACA-AU 7 66167227 66167265 deletion of <=200bp CTTTAGGGTTGGATAATATTTCATTGTATGGATAGACCA - intron_variant PACA-AU 7 66169390 66169390 single base substitution A G intron_variant PACA-AU 7 66173556 66173556 single base substitution G A intron_variant PACA-AU 7 66173645 66173646 deletion of <=200bp AA - intron_variant PACA-AU 7 66175265 66175265 single base substitution C T intron_variant PACA-AU 7 66186180 66186180 insertion of <=200bp - A intron_variant PACA-AU 7 66192624 66192624 single base substitution G A intron_variant PACA-AU 7 66193349 66193349 single base substitution G A intron_variant PACA-AU 7 66197986 66197986 single base substitution G T intron_variant PACA-AU 7 66206445 66206445 single base substitution A G intron_variant PACA-AU 7 66209465 66209465 single base substitution C T intron_variant PACA-AU 7 66211058 66211058 single base substitution A C intron_variant PACA-AU 7 66217341 66217341 single base substitution G T intron_variant PACA-AU 7 66222517 66222517 single base substitution A G intron_variant PACA-AU 7 66224990 66224990 single base substitution G A intron_variant PACA-AU 7 66226578 66226578 single base substitution T G intron_variant PACA-AU 7 66231698 66231698 insertion of <=200bp - TTATTTAT intron_variant PACA-AU 7 66233239 66233239 single base substitution G C intron_variant PACA-AU 7 66236187 66236187 single base substitution G A intron_variant PACA-AU 7 66244361 66244361 single base substitution C T intron_variant PACA-AU 7 66247797 66247797 deletion of <=200bp A - intron_variant PACA-AU 7 66261569 66261569 single base substitution T G intron_variant PACA-AU 7 66268553 66268553 single base substitution C T intron_variant PACA-AU 7 66274292 66274292 insertion of <=200bp - T 3_prime_UTR_variant PACA-AU 7 66274295 66274295 single base substitution A T 3_prime_UTR_variant PACA-AU 7 66278550 66278550 single base substitution C A downstream_gene_variant PACA-CA 7 66089369 66089369 single base substitution G A upstream_gene_variant PACA-CA 7 66099068 66099068 single base substitution T C intron_variant PACA-CA 7 66103043 66103043 single base substitution A C intron_variant PACA-CA 7 66103882 66103882 single base substitution C T exon_variant PACA-CA 7 66103882 66103882 single base substitution C T missense_variant A178V 533C>T PACA-CA 7 66103882 66103882 single base substitution C T synonymous_variant C121C 363C>T PACA-CA 7 66110055 66110055 single base substitution C G downstream_gene_variant PACA-CA 7 66110055 66110055 single base substitution C G intron_variant PACA-CA 7 66113709 66113709 single base substitution A G intron_variant PACA-CA 7 66114742 66114742 single base substitution G A intron_variant PACA-CA 7 66114985 66114985 single base substitution C T intron_variant PACA-CA 7 66115140 66115140 single base substitution C G intron_variant PACA-CA 7 66115691 66115691 single base substitution C T intron_variant PACA-CA 7 66115792 66115792 single base substitution A T intron_variant PACA-CA 7 66120693 66120693 single base substitution T C intron_variant PACA-CA 7 66123645 66123645 single base substitution C G intron_variant PACA-CA 7 66128984 66128984 single base substitution C A intron_variant PACA-CA 7 66131019 66131019 single base substitution T C intron_variant PACA-CA 7 66134847 66134847 single base substitution C T intron_variant PACA-CA 7 66136698 66136698 single base substitution A G intron_variant PACA-CA 7 66137430 66137430 insertion of <=200bp - A intron_variant PACA-CA 7 66144077 66144077 single base substitution C T intron_variant PACA-CA 7 66144484 66144484 single base substitution T G intron_variant PACA-CA 7 66145955 66145955 single base substitution G A intron_variant PACA-CA 7 66152397 66152397 single base substitution G A intron_variant PACA-CA 7 66152964 66152964 single base substitution C T intron_variant PACA-CA 7 66157065 66157065 single base substitution C T intron_variant PACA-CA 7 66159245 66159245 single base substitution C T intron_variant PACA-CA 7 66160675 66160675 single base substitution A G intron_variant PACA-CA 7 66161064 66161064 single base substitution T A intron_variant PACA-CA 7 66163088 66163088 insertion of <=200bp - C intron_variant PACA-CA 7 66164020 66164020 single base substitution G T intron_variant PACA-CA 7 66170411 66170411 single base substitution G A intron_variant PACA-CA 7 66173259 66173259 insertion of <=200bp - G intron_variant PACA-CA 7 66179126 66179126 single base substitution T C intron_variant PACA-CA 7 66179981 66179981 single base substitution G A intron_variant PACA-CA 7 66180934 66180934 single base substitution G A intron_variant PACA-CA 7 66181590 66181593 deletion of <=200bp AATA - intron_variant PACA-CA 7 66188555 66188555 deletion of <=200bp T - intron_variant PACA-CA 7 66193676 66193676 single base substitution A G intron_variant PACA-CA 7 66196771 66196771 single base substitution C T intron_variant PACA-CA 7 66199677 66199677 deletion of <=200bp C - intron_variant PACA-CA 7 66205695 66205695 single base substitution G A 5_prime_UTR_variant PACA-CA 7 66205695 66205695 single base substitution G A intron_variant PACA-CA 7 66205695 66205695 single base substitution G A upstream_gene_variant PACA-CA 7 66206404 66206404 single base substitution C T intron_variant PACA-CA 7 66207449 66207449 single base substitution A G intron_variant PACA-CA 7 66212542 66212542 insertion of <=200bp - TCACATAG intron_variant PACA-CA 7 66222799 66222799 single base substitution C T intron_variant PACA-CA 7 66224940 66224940 single base substitution T C intron_variant PACA-CA 7 66227933 66227933 single base substitution T C intron_variant PACA-CA 7 66229686 66229686 single base substitution C G intron_variant PACA-CA 7 66236530 66236530 single base substitution G T intron_variant PACA-CA 7 66237622 66237622 single base substitution G A intron_variant PACA-CA 7 66240398 66240398 deletion of <=200bp T - intron_variant PACA-CA 7 66242812 66242812 insertion of <=200bp - T intron_variant PACA-CA 7 66243882 66243882 single base substitution C A intron_variant PACA-CA 7 66244334 66244334 single base substitution T C intron_variant PACA-CA 7 66247106 66247106 single base substitution C T intron_variant PACA-CA 7 66249150 66249150 single base substitution C G intron_variant PACA-CA 7 66250222 66250222 single base substitution T C intron_variant PACA-CA 7 66252385 66252385 single base substitution C T intron_variant PACA-CA 7 66252874 66252874 insertion of <=200bp - T intron_variant PACA-CA 7 66254428 66254428 insertion of <=200bp - AGAT intron_variant PACA-CA 7 66261174 66261174 single base substitution G C intron_variant PACA-CA 7 66262456 66262456 single base substitution G A 3_prime_UTR_variant PACA-CA 7 66262456 66262456 single base substitution G A missense_variant D231N 691G>A PACA-CA 7 66262456 66262456 single base substitution G A missense_variant D271N 811G>A PACA-CA 7 66264075 66264075 single base substitution C A intron_variant PACA-CA 7 66264163 66264163 single base substitution G A intron_variant PACA-CA 7 66267004 66267004 single base substitution C A intron_variant PACA-CA 7 66269026 66269026 single base substitution A C intron_variant PACA-CA 7 66272821 66272821 single base substitution C G intron_variant PACA-CA 7 66276345 66276345 single base substitution C A 3_prime_UTR_variant PACA-CA 7 66276345 66276345 single base substitution C A downstream_gene_variant PACA-CA 7 66278059 66278059 single base substitution G A downstream_gene_variant PAEN-AU 7 66090420 66090420 single base substitution A C upstream_gene_variant PAEN-AU 7 66090668 66090668 single base substitution A T upstream_gene_variant PAEN-AU 7 66094450 66094450 single base substitution T G intron_variant PAEN-AU 7 66131998 66131998 single base substitution A G intron_variant PAEN-AU 7 66188904 66188904 single base substitution C A intron_variant PAEN-AU 7 66223106 66223106 single base substitution A T intron_variant PAEN-AU 7 66241521 66241521 single base substitution A C intron_variant PAEN-AU 7 66270527 66270527 single base substitution G T intron_variant PAEN-AU 7 66280940 66280940 single base substitution G A downstream_gene_variant PAEN-IT 7 66105052 66105052 single base substitution T G 3_prime_UTR_variant PAEN-IT 7 66105052 66105052 single base substitution T G downstream_gene_variant PAEN-IT 7 66105052 66105052 single base substitution T G intron_variant PAEN-IT 7 66133973 66133973 single base substitution G T intron_variant PAEN-IT 7 66169338 66169338 single base substitution C A intron_variant PAEN-IT 7 66187374 66187374 single base substitution C A intron_variant PAEN-IT 7 66265267 66265267 single base substitution G T intron_variant PBCA-DE 7 66090010 66090010 single base substitution G A upstream_gene_variant PBCA-DE 7 66135418 66135428 deletion of <=200bp TGATTTTTTTT - intron_variant PBCA-DE 7 66135882 66135882 insertion of <=200bp - AC intron_variant PBCA-DE 7 66137511 66137511 insertion of <=200bp - GG intron_variant PBCA-DE 7 66141685 66141685 single base substitution C A intron_variant PBCA-DE 7 66167335 66167336 deletion of <=200bp TG - intron_variant PBCA-DE 7 66186747 66186747 single base substitution C T intron_variant PBCA-DE 7 66196543 66196543 insertion of <=200bp - A intron_variant PBCA-DE 7 66210024 66210024 deletion of <=200bp A - intron_variant PBCA-DE 7 66212080 66212080 single base substitution C G intron_variant PBCA-DE 7 66217176 66217176 single base substitution C T intron_variant PBCA-DE 7 66226054 66226054 single base substitution C T intron_variant PBCA-DE 7 66273902 66273902 single base substitution A G 3_prime_UTR_variant PBCA-DE 7 66273902 66273902 single base substitution A G synonymous_variant L369L 1107A>G PBCA-DE 7 66273902 66273902 single base substitution A G synonymous_variant L409L 1227A>G PRAD-CA 7 66097912 66097912 single base substitution A G intron_variant PRAD-CA 7 66099125 66099125 single base substitution G A intron_variant PRAD-CA 7 66115795 66115795 single base substitution T A intron_variant PRAD-CA 7 66116153 66116153 single base substitution T G intron_variant PRAD-CA 7 66121984 66121984 single base substitution C T intron_variant PRAD-CA 7 66139180 66139180 single base substitution T C intron_variant PRAD-CA 7 66145659 66145659 single base substitution C A intron_variant PRAD-CA 7 66148033 66148033 single base substitution G A intron_variant PRAD-CA 7 66201864 66201864 single base substitution C G intron_variant PRAD-CA 7 66201864 66201864 single base substitution C G upstream_gene_variant PRAD-CA 7 66202060 66202060 single base substitution T A intron_variant PRAD-CA 7 66202060 66202060 single base substitution T A upstream_gene_variant PRAD-CA 7 66202074 66202074 single base substitution C A intron_variant PRAD-CA 7 66202074 66202074 single base substitution C A upstream_gene_variant PRAD-CA 7 66202080 66202080 single base substitution C A intron_variant PRAD-CA 7 66202080 66202080 single base substitution C A upstream_gene_variant PRAD-CA 7 66213411 66213411 single base substitution C A intron_variant PRAD-CA 7 66222020 66222020 single base substitution G T intron_variant PRAD-CA 7 66229177 66229177 single base substitution T C intron_variant PRAD-CA 7 66255094 66255094 single base substitution T C intron_variant PRAD-CA 7 66274953 66274953 single base substitution A T 3_prime_UTR_variant PRAD-CA 7 66274953 66274953 single base substitution A T downstream_gene_variant PRAD-CA 7 66275732 66275732 single base substitution G A 3_prime_UTR_variant PRAD-CA 7 66275732 66275732 single base substitution G A downstream_gene_variant PRAD-UK 7 66092979 66092979 single base substitution T A upstream_gene_variant PRAD-UK 7 66094417 66094417 single base substitution C T intron_variant PRAD-UK 7 66112717 66112729 deletion of <=200bp CTTAACTAATGAG - downstream_gene_variant PRAD-UK 7 66112717 66112729 deletion of <=200bp CTTAACTAATGAG - intron_variant PRAD-UK 7 66113811 66113811 single base substitution G A intron_variant PRAD-UK 7 66120516 66120537 deletion of <=200bp TTTGTTTTTCTTTATTATATTT - intron_variant PRAD-UK 7 66123960 66123960 single base substitution G A intron_variant PRAD-UK 7 66124783 66124786 deletion of <=200bp AAAA - intron_variant PRAD-UK 7 66124786 66124786 single base substitution A T intron_variant PRAD-UK 7 66139573 66139573 single base substitution G T intron_variant PRAD-UK 7 66166504 66166504 single base substitution T A intron_variant PRAD-UK 7 66190214 66190214 single base substitution C T intron_variant PRAD-UK 7 66204406 66204406 single base substitution C T intron_variant PRAD-UK 7 66204406 66204406 single base substitution C T upstream_gene_variant PRAD-UK 7 66217976 66217976 single base substitution T G intron_variant PRAD-UK 7 66240344 66240344 deletion of <=200bp T - 3_prime_UTR_variant PRAD-UK 7 66240344 66240344 deletion of <=200bp T - frameshift_variant F104 PRAD-UK 7 66240344 66240344 deletion of <=200bp T - frameshift_variant F144 PRAD-UK 7 66247369 66247369 single base substitution T G intron_variant PRAD-UK 7 66252040 66252040 single base substitution G T intron_variant PRAD-UK 7 66257714 66257714 single base substitution G T intron_variant PRAD-UK 7 66262865 66262865 single base substitution C A intron_variant PRAD-US 7 66103989 66103989 single base substitution C T downstream_gene_variant PRAD-US 7 66103989 66103989 single base substitution C T intron_variant PRAD-US 7 66103989 66103989 single base substitution C T missense_variant R214W 640C>T READ-US 7 66240367 66240367 single base substitution C T 3_prime_UTR_variant READ-US 7 66240367 66240367 single base substitution C T synonymous_variant V111V 333C>T READ-US 7 66240367 66240367 single base substitution C T synonymous_variant V151V 453C>T RECA-EU 7 66117717 66117717 single base substitution A G intron_variant RECA-EU 7 66119741 66119741 single base substitution G C intron_variant RECA-EU 7 66141371 66141371 single base substitution A G intron_variant RECA-EU 7 66149074 66149074 single base substitution T C intron_variant RECA-EU 7 66172758 66172758 single base substitution C T intron_variant RECA-EU 7 66174835 66174835 single base substitution T G intron_variant RECA-EU 7 66179712 66179712 single base substitution G C intron_variant RECA-EU 7 66189645 66189645 single base substitution T A intron_variant RECA-EU 7 66196529 66196529 single base substitution C T intron_variant RECA-EU 7 66198353 66198353 single base substitution G T intron_variant RECA-EU 7 66202086 66202086 single base substitution A C intron_variant RECA-EU 7 66202086 66202086 single base substitution A C upstream_gene_variant RECA-EU 7 66211730 66211730 single base substitution C T intron_variant RECA-EU 7 66219682 66219682 single base substitution A C intron_variant RECA-EU 7 66229114 66229114 single base substitution C A intron_variant RECA-EU 7 66237831 66237831 single base substitution G A intron_variant RECA-EU 7 66241879 66241879 single base substitution G C intron_variant RECA-EU 7 66263509 66263509 single base substitution T G intron_variant SKCA-BR 7 66091993 66091993 single base substitution A G upstream_gene_variant SKCA-BR 7 66093065 66093065 single base substitution T G upstream_gene_variant SKCA-BR 7 66097872 66097872 insertion of <=200bp - AAT intron_variant SKCA-BR 7 66099100 66099100 insertion of <=200bp - CATATATAT intron_variant SKCA-BR 7 66109060 66109060 single base substitution C T downstream_gene_variant SKCA-BR 7 66109060 66109060 single base substitution C T intron_variant SKCA-BR 7 66110284 66110284 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 7 66110284 66110284 insertion of <=200bp - CT intron_variant SKCA-BR 7 66110932 66110932 single base substitution C T downstream_gene_variant SKCA-BR 7 66110932 66110932 single base substitution C T intron_variant SKCA-BR 7 66115795 66115795 single base substitution T A intron_variant SKCA-BR 7 66125508 66125508 single base substitution G A intron_variant SKCA-BR 7 66128033 66128033 single base substitution C T intron_variant SKCA-BR 7 66133578 66133578 single base substitution G A intron_variant SKCA-BR 7 66133952 66133952 single base substitution A G intron_variant SKCA-BR 7 66134847 66134847 single base substitution C T intron_variant SKCA-BR 7 66135606 66135606 single base substitution T G intron_variant SKCA-BR 7 66135881 66135881 insertion of <=200bp - TAC intron_variant SKCA-BR 7 66136804 66136804 insertion of <=200bp - CTT intron_variant SKCA-BR 7 66138095 66138096 deletion of <=200bp GA - intron_variant SKCA-BR 7 66138780 66138780 insertion of <=200bp - CT intron_variant SKCA-BR 7 66138781 66138781 single base substitution A G intron_variant SKCA-BR 7 66142748 66142749 deletion of <=200bp CA - intron_variant SKCA-BR 7 66144269 66144269 insertion of <=200bp - AT intron_variant SKCA-BR 7 66146380 66146381 deletion of <=200bp CT - intron_variant SKCA-BR 7 66150882 66150882 single base substitution C T intron_variant SKCA-BR 7 66151173 66151173 single base substitution C T intron_variant SKCA-BR 7 66152122 66152123 deletion of <=200bp TC - intron_variant SKCA-BR 7 66152123 66152123 single base substitution C T intron_variant SKCA-BR 7 66156002 66156002 single base substitution G T intron_variant SKCA-BR 7 66158087 66158087 single base substitution C T intron_variant SKCA-BR 7 66158798 66158798 insertion of <=200bp - CT intron_variant SKCA-BR 7 66159261 66159261 single base substitution C T intron_variant SKCA-BR 7 66161790 66161790 single base substitution T C intron_variant SKCA-BR 7 66163503 66163503 single base substitution C T intron_variant SKCA-BR 7 66166130 66166130 single base substitution T G intron_variant SKCA-BR 7 66167470 66167470 single base substitution C T intron_variant SKCA-BR 7 66169602 66169602 single base substitution C T intron_variant SKCA-BR 7 66170185 66170185 single base substitution C T intron_variant SKCA-BR 7 66170430 66170430 insertion of <=200bp - AAGACAGAGAG intron_variant SKCA-BR 7 66170432 66170432 insertion of <=200bp - GAC intron_variant SKCA-BR 7 66171150 66171150 single base substitution A G intron_variant SKCA-BR 7 66172286 66172286 single base substitution C T intron_variant SKCA-BR 7 66172519 66172519 single base substitution G A intron_variant SKCA-BR 7 66173523 66173523 single base substitution A C intron_variant SKCA-BR 7 66175618 66175618 single base substitution C T intron_variant SKCA-BR 7 66175846 66175846 single base substitution G T intron_variant SKCA-BR 7 66176334 66176334 single base substitution C T intron_variant SKCA-BR 7 66178206 66178206 single base substitution G A intron_variant SKCA-BR 7 66185913 66185913 single base substitution G A intron_variant SKCA-BR 7 66186014 66186014 single base substitution C T intron_variant SKCA-BR 7 66190046 66190046 single base substitution C T intron_variant SKCA-BR 7 66190794 66190794 single base substitution C T intron_variant SKCA-BR 7 66190795 66190795 single base substitution C T intron_variant SKCA-BR 7 66192460 66192460 single base substitution A C intron_variant SKCA-BR 7 66193095 66193095 single base substitution C T intron_variant SKCA-BR 7 66193096 66193096 single base substitution C T intron_variant SKCA-BR 7 66194263 66194263 single base substitution C T intron_variant SKCA-BR 7 66194737 66194737 single base substitution G A intron_variant SKCA-BR 7 66196588 66196588 single base substitution C T intron_variant SKCA-BR 7 66196744 66196744 single base substitution A C intron_variant SKCA-BR 7 66199105 66199105 single base substitution A C intron_variant SKCA-BR 7 66200305 66200305 single base substitution A G intron_variant SKCA-BR 7 66200810 66200810 single base substitution C T intron_variant SKCA-BR 7 66200810 66200810 single base substitution C T upstream_gene_variant SKCA-BR 7 66202060 66202060 single base substitution T A intron_variant SKCA-BR 7 66202060 66202060 single base substitution T A upstream_gene_variant SKCA-BR 7 66202388 66202388 single base substitution G A intron_variant SKCA-BR 7 66202388 66202388 single base substitution G A upstream_gene_variant SKCA-BR 7 66203011 66203011 insertion of <=200bp - TTG intron_variant SKCA-BR 7 66203011 66203011 insertion of <=200bp - TTG upstream_gene_variant SKCA-BR 7 66203017 66203017 single base substitution T G intron_variant SKCA-BR 7 66203017 66203017 single base substitution T G upstream_gene_variant SKCA-BR 7 66203718 66203718 insertion of <=200bp - CAAA intron_variant SKCA-BR 7 66203718 66203718 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 7 66204545 66204545 single base substitution T G intron_variant SKCA-BR 7 66204545 66204545 single base substitution T G upstream_gene_variant SKCA-BR 7 66204644 66204651 deletion of <=200bp CAAAAAAA - intron_variant SKCA-BR 7 66204644 66204651 deletion of <=200bp CAAAAAAA - upstream_gene_variant SKCA-BR 7 66204672 66204672 single base substitution A T intron_variant SKCA-BR 7 66204672 66204672 single base substitution A T upstream_gene_variant SKCA-BR 7 66207137 66207137 insertion of <=200bp - CA intron_variant SKCA-BR 7 66208315 66208315 single base substitution T A intron_variant SKCA-BR 7 66209028 66209028 single base substitution C T intron_variant SKCA-BR 7 66211470 66211470 single base substitution G T intron_variant SKCA-BR 7 66211697 66211697 single base substitution A C intron_variant SKCA-BR 7 66213687 66213687 single base substitution G A intron_variant SKCA-BR 7 66217480 66217480 insertion of <=200bp - TA intron_variant SKCA-BR 7 66217970 66217970 single base substitution T C intron_variant SKCA-BR 7 66218115 66218115 single base substitution G A intron_variant SKCA-BR 7 66221712 66221712 single base substitution G A intron_variant SKCA-BR 7 66223692 66223692 single base substitution G A intron_variant SKCA-BR 7 66224368 66224368 single base substitution T C intron_variant SKCA-BR 7 66227078 66227078 single base substitution C T intron_variant SKCA-BR 7 66230529 66230529 single base substitution C T intron_variant SKCA-BR 7 66232278 66232278 single base substitution C T intron_variant SKCA-BR 7 66238069 66238070 deletion of <=200bp TG - intron_variant SKCA-BR 7 66238070 66238070 single base substitution G T intron_variant SKCA-BR 7 66238605 66238605 single base substitution A G intron_variant SKCA-BR 7 66239393 66239393 single base substitution T C intron_variant SKCA-BR 7 66241183 66241183 single base substitution C T intron_variant SKCA-BR 7 66241504 66241504 single base substitution A C intron_variant SKCA-BR 7 66244091 66244091 single base substitution C T intron_variant SKCA-BR 7 66245615 66245615 single base substitution A G intron_variant SKCA-BR 7 66257939 66257939 single base substitution T G intron_variant SKCA-BR 7 66260281 66260281 single base substitution C T intron_variant SKCA-BR 7 66260950 66260950 single base substitution A C intron_variant SKCA-BR 7 66264717 66264717 single base substitution C T intron_variant SKCA-BR 7 66271661 66271661 single base substitution C T intron_variant SKCA-BR 7 66272800 66272800 single base substitution C T intron_variant SKCA-BR 7 66272976 66272976 single base substitution T C intron_variant SKCA-BR 7 66273218 66273218 insertion of <=200bp - TG intron_variant SKCA-BR 7 66279297 66279297 single base substitution G A downstream_gene_variant SKCA-BR 7 66280300 66280300 single base substitution A C downstream_gene_variant SKCA-BR 7 66280635 66280635 single base substitution A C downstream_gene_variant SKCM-US 7 66098385 66098385 single base substitution G A intron_variant SKCM-US 7 66098385 66098385 single base substitution G A missense_variant D90N 268G>A SKCM-US 7 66103239 66103239 single base substitution G A splice_acceptor_variant SKCM-US 7 66103255 66103255 single base substitution C T exon_variant SKCM-US 7 66103255 66103255 single base substitution C T missense_variant P54S 160C>T SKCM-US 7 66103255 66103255 single base substitution C T synonymous_variant F110F 330C>T SKCM-US 7 66103274 66103274 single base substitution C T exon_variant SKCM-US 7 66103274 66103274 single base substitution C T missense_variant P117S 349C>T SKCM-US 7 66103274 66103274 single base substitution C T missense_variant P60L 179C>T SKCM-US 7 66104087 66104087 single base substitution C T downstream_gene_variant SKCM-US 7 66104087 66104087 single base substitution C T intron_variant SKCM-US 7 66104087 66104087 single base substitution C T synonymous_variant H246H 738C>T SKCM-US 7 66104168 66104168 single base substitution C T downstream_gene_variant SKCM-US 7 66104168 66104168 single base substitution C T intron_variant SKCM-US 7 66104168 66104168 single base substitution C T synonymous_variant N273N 819C>T SKCM-US 7 66104169 66104169 single base substitution C T downstream_gene_variant SKCM-US 7 66104169 66104169 single base substitution C T intron_variant SKCM-US 7 66104169 66104169 single base substitution C T missense_variant H274Y 820C>T SKCM-US 7 66104188 66104188 single base substitution C T downstream_gene_variant SKCM-US 7 66104188 66104188 single base substitution C T intron_variant SKCM-US 7 66104188 66104188 single base substitution C T missense_variant P280L 839C>T SKCM-US 7 66264330 66264330 single base substitution C T 3_prime_UTR_variant SKCM-US 7 66264330 66264330 single base substitution C T missense_variant P250L 749C>T SKCM-US 7 66264330 66264330 single base substitution C T missense_variant P290L 869C>T SKCM-US 7 66270287 66270287 insertion of <=200bp - AA 3_prime_UTR_variant SKCM-US 7 66270287 66270287 insertion of <=200bp - AA frameshift_variant N327K? SKCM-US 7 66270287 66270287 insertion of <=200bp - AA frameshift_variant N367K? SKCM-US 7 66270311 66270311 single base substitution C T 3_prime_UTR_variant SKCM-US 7 66270311 66270311 single base substitution C T synonymous_variant I335I 1005C>T SKCM-US 7 66270311 66270311 single base substitution C T synonymous_variant I375I 1125C>T SKCM-US 7 66273942 66273942 single base substitution C A 3_prime_UTR_variant SKCM-US 7 66273942 66273942 single base substitution C A missense_variant R383S 1147C>A SKCM-US 7 66273942 66273942 single base substitution C A missense_variant R423S 1267C>A STAD-US 7 66103382 66103382 single base substitution C T exon_variant STAD-US 7 66103382 66103382 single base substitution C T missense_variant A96V 287C>T STAD-US 7 66103382 66103382 single base substitution C T missense_variant R153C 457C>T STAD-US 7 66103848 66103848 single base substitution T A exon_variant STAD-US 7 66103848 66103848 single base substitution T A missense_variant L110H 329T>A STAD-US 7 66103848 66103848 single base substitution T A missense_variant L167M 499T>A STAD-US 7 66104004 66104004 single base substitution G A downstream_gene_variant STAD-US 7 66104004 66104004 single base substitution G A intron_variant STAD-US 7 66104004 66104004 single base substitution G A missense_variant G219R 655G>A STAD-US 7 66236966 66236966 single base substitution G T exon_variant STAD-US 7 66236966 66236966 single base substitution G T missense_variant G27V 80G>T STAD-US 7 66274183 66274183 single base substitution C A 3_prime_UTR_variant STAD-US 7 66274183 66274183 single base substitution C A missense_variant P463Q 1388C>A STAD-US 7 66274183 66274183 single base substitution C A missense_variant P503Q 1508C>A THCA-SA 7 66098384 66098384 single base substitution G A intron_variant THCA-SA 7 66098384 66098384 single base substitution G A synonymous_variant T89T 267G>A THCA-SA 7 66107971 66107971 single base substitution C G 3_prime_UTR_variant THCA-SA 7 66107971 66107971 single base substitution C G downstream_gene_variant THCA-SA 7 66107971 66107971 single base substitution C G intron_variant THCA-US 7 66262494 66262494 single base substitution G A splice_donor_variant UCEC-US 7 66098334 66098334 single base substitution G A intron_variant UCEC-US 7 66098334 66098334 single base substitution G A missense_variant E73K 217G>A UCEC-US 7 66098391 66098391 single base substitution G A intron_variant UCEC-US 7 66098391 66098391 single base substitution G A missense_variant E92K 274G>A UCEC-US 7 66104044 66104044 single base substitution T G downstream_gene_variant UCEC-US 7 66104044 66104044 single base substitution T G intron_variant UCEC-US 7 66104044 66104044 single base substitution T G missense_variant F232C 695T>G UCEC-US 7 66104124 66104124 single base substitution G A downstream_gene_variant UCEC-US 7 66104124 66104124 single base substitution G A intron_variant UCEC-US 7 66104124 66104124 single base substitution G A missense_variant V259M 775G>A UCEC-US 7 66236964 66236964 single base substitution C T exon_variant UCEC-US 7 66236964 66236964 single base substitution C T synonymous_variant Y26Y 78C>T UCEC-US 7 66248718 66248718 single base substitution A G 3_prime_UTR_variant UCEC-US 7 66248718 66248718 single base substitution A G missense_variant T135A 403A>G UCEC-US 7 66248718 66248718 single base substitution A G missense_variant T175A 523A>G UCEC-US 7 66248761 66248761 single base substitution T C 3_prime_UTR_variant UCEC-US 7 66248761 66248761 single base substitution T C missense_variant F149S 446T>C UCEC-US 7 66248761 66248761 single base substitution T C missense_variant F189S 566T>C UCEC-US 7 66262417 66262417 single base substitution C T 3_prime_UTR_variant UCEC-US 7 66262417 66262417 single base substitution C T missense_variant R218C 652C>T UCEC-US 7 66262417 66262417 single base substitution C T missense_variant R258C 772C>T UCEC-US 7 66270131 66270131 single base substitution C A 3_prime_UTR_variant UCEC-US 7 66270131 66270131 single base substitution C A synonymous_variant I275I 825C>A UCEC-US 7 66270131 66270131 single base substitution C A synonymous_variant I315I 945C>A UCEC-US 7 66270163 66270163 single base substitution A G 3_prime_UTR_variant UCEC-US 7 66270163 66270163 single base substitution A G missense_variant D286G 857A>G UCEC-US 7 66270163 66270163 single base substitution A G missense_variant D326G 977A>G UCEC-US 7 66270267 66270267 single base substitution T G 3_prime_UTR_variant UCEC-US 7 66270267 66270267 single base substitution T G missense_variant Y321D 961T>G UCEC-US 7 66270267 66270267 single base substitution T G missense_variant Y361D 1081T>G UCEC-US 7 66270295 66270295 single base substitution G A 3_prime_UTR_variant UCEC-US 7 66270295 66270295 single base substitution G A missense_variant R330H 989G>A UCEC-US 7 66270295 66270295 single base substitution G A missense_variant R370H 1109G>A UCEC-US 7 66273875 66273875 single base substitution C T splice_region_variant UCEC-US 7 66273956 66273956 single base substitution C T 3_prime_UTR_variant UCEC-US 7 66273956 66273956 single base substitution C T synonymous_variant G387G 1161C>T UCEC-US 7 66273956 66273956 single base substitution C T synonymous_variant G427G 1281C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Br27P COSM40216 c.135G>A p.L45L Substitution - coding silent 7:66629199-66629199 + 18 COSM5744932 c.793delG p.V266fs*7 Deletion - Frameshift 7:66639155-66639155 + TCGA-EE-A29P-06 COSM3640119 c.839C>T p.P280L Substitution - Missense 7:66639201-66639201 + TCGA-A5-A0GP-01 COSM1091328 c.217G>A p.E73K Substitution - Missense 7:66633347-66633347 + TCGA-60-2698-01 COSM747278 c.758C>T p.S253L Substitution - Missense 7:66639120-66639120 + CRC-12T COSM5480700 c.267G>A p.T89T Substitution - coding silent 7:66633397-66633397 + LIM2099 COSM3085866 c.687T>C p.D229D Substitution - coding silent 7:66639049-66639049 + sysucc-882T COSM5447769 c.571T>G p.C191G Substitution - Missense 7:66638933-66638933 + TCGA-BR-6566-01 COSM3882077 c.457C>T p.R153C Substitution - Missense 7:66638395-66638395 + TCGA-18-3409-01 COSM747280 c.613C>T p.P205S Substitution - Missense 7:66638975-66638975 + OSCC-GB_00600111 COSM4890215 c.448G>T p.E150* Substitution - Nonsense 7:66638386-66638386 + CLL024 COSM1292534 c.838C>T p.P280S Substitution - Missense 7:66639200-66639200 + TCGA-24-1616-01 COSM75097 c.530G>A p.R177H Substitution - Missense 7:66638892-66638892 + TCGA-D1-A17H-01 COSM1091331 c.775G>A p.V259M Substitution - Missense 7:66639137-66639137 + TCGA-CJ-5675-01 COSM485504 c.393C>G p.Y131* Substitution - Nonsense 7:66638331-66638331 + PDA_006 COSM4998148 c.216C>A p.Y72* Substitution - Nonsense 7:66633346-66633346 + TCGA-EE-A2MJ-06 COSM3640118 c.820C>T p.H274Y Substitution - Missense 7:66639182-66639182 + TCGA-EE-A2A2-06 COSM3640114 c.330C>T p.F110F Substitution - coding silent 7:66638268-66638268 + TCGA-13-0916-01 COSM80044 c.816G>C p.V272V Substitution - coding silent 7:66639178-66639178 + S01297 COSM5667756 c.251G>T p.R84L Substitution - Missense 7:66633381-66633381 + C135 COSM4618717 c.550C>T p.R184C Substitution - Missense 7:66638912-66638912 + PCSI_0083_Pa_P_526 COSM3788299 c.533C>T p.A178V Substitution - Missense 7:66638895-66638895 + T3064 COSM4694826 c.402C>G p.I134M Substitution - Missense 7:66638340-66638340 + OSCC-GB_01280111 COSM5954187 c.524G>A p.R175Q Substitution - Missense 7:66638886-66638886 + CSCC-44-T COSM4558019 c.751G>A p.D251N Substitution - Missense 7:66639113-66639113 + TCGA-GN-A26C-01 COSM3640113 c.315-1G>A p.? Unknown 7:66638252-66638252 + LOVO COSM3085858 c.209G>A p.R70Q Substitution - Missense 7:66633339-66633339 + TCGA-BP-5177-01 COSM3367006 c.490A>G p.K164E Substitution - Missense 7:66638428-66638428 + RKO COSM3085861 c.386C>T p.A129V Substitution - Missense 7:66638324-66638324 + CSCC-29-T COSM4502976 c.627C>T p.S209S Substitution - coding silent 7:66638989-66638989 + 2492702 COSM5716570 c.249G>T p.G83G Substitution - coding silent 7:66633379-66633379 + TCGA-FW-A3TU-06 COSM3640112 c.268G>A p.D90N Substitution - Missense 7:66633398-66633398 + TCGA-D1-A17H-01 COSM1091327 c.162C>T p.P54P Substitution - coding silent 7:66633292-66633292 + TCGA-EE-A2MJ-06 COSM3640115 c.349C>T p.P117S Substitution - Missense 7:66638287-66638287 + TCGA-FP-7829-01 COSM3882078 c.499T>A p.L167M Substitution - Missense 7:66638861-66638861 + LIM2551 COSM4644805 c.279C>T p.G93G Substitution - coding silent 7:66633409-66633409 + LUAD-YINHD COSM351638 c.355A>T p.R119W Substitution - Missense 7:66638293-66638293 + TCGA-AX-A05Z-01 COSM1091330 c.695T>G p.F232C Substitution - Missense 7:66639057-66639057 + TCGA-D1-A16J-01 COSM1091329 c.274G>A p.E92K Substitution - Missense 7:66633404-66633404 + 2492700 COSM5716570 c.249G>T p.G83G Substitution - coding silent 7:66633379-66633379 + 2492703 COSM5716570 c.249G>T p.G83G Substitution - coding silent 7:66633379-66633379 + B15-Tumor COSM254756 c.847G>C p.E283Q Substitution - Missense 7:66639209-66639209 + B15 COSM254756 c.847G>C p.E283Q Substitution - Missense 7:66639209-66639209 + SW620 COSM4656606 c.113C>T p.A38V Substitution - Missense 7:66629177-66629177 + T3048 COSM4694827 c.540G>A p.Q180Q Substitution - coding silent 7:66638902-66638902 + sysucc-1128T COSM5469239 c.749C>T p.T250M Substitution - Missense 7:66639111-66639111 + TCGA-46-3765-01 COSM747279 c.618C>G p.L206L Substitution - coding silent 7:66638980-66638980 + AOCS-119-3-9 COSM4149311 c.720T>A p.D240E Substitution - Missense 7:66639082-66639082 + TCGA-HC-7749-01 COSM1472045 c.640C>T p.R214W Substitution - Missense 7:66639002-66639002 + TCGA-FU-A3HZ-01 COSM1091328 c.217G>A p.E73K Substitution - Missense 7:66633347-66633347 + TCGA-A2-A0CQ-01 COSM453302 c.335G>T p.R112L Substitution - Missense 7:66638273-66638273 + C10 COSM4616644 c.735G>T p.L245L Substitution - coding silent 7:66639097-66639097 + TCGA-EE-A2MS-06 COSM3640116 c.738C>T p.H246H Substitution - coding silent 7:66639100-66639100 + TCGA-CG-5721-01 COSM3882079 c.655G>A p.G219R Substitution - Missense 7:66639017-66639017 + B15 COSM254756 c.847G>C p.E283Q Substitution - Missense 7:66639209-66639209 + TCGA-D3-A3CE-06 COSM3640117 c.819C>T p.N273N Substitution - coding silent 7:66639181-66639181 + 2492701 COSM5716570 c.249G>T p.G83G Substitution - coding silent 7:66633379-66633379 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.546622;Hs.546623;Hs.546627 7q11.21 611725

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AA Frameshift p.P328Qfs*21 c.982_983insAA 7 66270288 CM A T Missense p.M193L c.577A>T 7 66260561 RCCC A T Missense p.S74C c.220A>T 7 66240254 GBM C A Missense p.R383S c.1147C>A 7 66273942 CM C A Missense p.R383S c.1147C>A 7 66273942 ESCA CCTG - Frameshift p.A30Gfs*71 c.89_92delCCTG 7 66236971 BRCA CC TT Missense p.P329L c.985_986delinsTT 7 66270291 CM C G Missense p.L17V c.49C>G 7 66236935 HNSC C T Missense p.P250L c.749C>T 7 66264330 CM C T Missense p.R218C c.652C>T 7 66262417 UCEC C T Missense p.S108F c.323C>T 7 66240357 LUSC C T Missense p.T305I c.914C>T 7 66270220 CM C T Missense p.T82I c.245C>T 7 66240279 GBM G A Missense p.E397K c.1189G>A 7 66273984 BLCA G A Missense p.R330H c.989G>A 7 66270295 UCEC G C Missense p.D266H c.796G>C 7 66264377 BLCA G C Missense p.E422Q c.1264G>C 7 66274059 BLCA G C Missense p.E67Q c.199G>C 7 66240233 LUAD G C Missense p.G166A c.497G>C 7 66248812 RCCC G C Missense p.K206N c.618G>C 7 66262383 HNSC G T Missense p.A289S c.865G>T 7 66270171 LUAD G T Missense p.R246L c.737G>T 7 66264318 LUAD T C Missense p.L319P c.956T>C 7 66270262 GBM