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 18 59483116 59483116 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 g.chr18:59483116G>C c.581C>G c.(580-582)tCt>tGt p.S194C BLCA 18 59483323 59483323 + Missense_Mutation SNP C C G TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chr18:59483323C>G c.374G>C c.(373-375)aGc>aCc p.S125T BLCA 18 59483505 59483505 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr18:59483505G>A c.192C>T c.(190-192)ttC>ttT p.F64F CESC 18 59483144 59483144 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr18:59483144T>C c.553A>G c.(553-555)Atc>Gtc p.I185V COAD 18 59483365 59483365 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr18:59483365G>A c.332C>T c.(331-333)gCg>gTg p.A111V COAD 18 59483391 59483391 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr18:59483391C>T c.306G>A c.(304-306)ctG>ctA p.L102L COAD 18 59483514 59483514 + Silent SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr18:59483514A>G c.183T>C c.(181-183)ccT>ccC p.P61P COAD 18 59483549 59483549 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr18:59483549G>A c.148C>T c.(148-150)Cgg>Tgg p.R50W COAD 18 59483681 59483681 + Frame_Shift_Del DEL G G - TCGA-AA-A01T-01A-21W-A096-10 TCGA-AA-A01T-11A-11W-A096-10 g.chr18:59483681delG c.16delC c.(16-18)cagfs p.Q6fs COADREAD 18 59483365 59483365 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr18:59483365G>A c.332C>T c.(331-333)gCg>gTg p.A111V COADREAD 18 59483391 59483391 + Silent SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr18:59483391C>T c.306G>A c.(304-306)ctG>ctA p.L102L COADREAD 18 59483514 59483514 + Silent SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr18:59483514A>G c.183T>C c.(181-183)ccT>ccC p.P61P COADREAD 18 59483549 59483549 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr18:59483549G>A c.148C>T c.(148-150)Cgg>Tgg p.R50W COADREAD 18 59483681 59483681 + Frame_Shift_Del DEL G G - TCGA-AA-A01T-01A-21W-A096-10 TCGA-AA-A01T-11A-11W-A096-10 g.chr18:59483681delG c.16delC c.(16-18)cagfs p.Q6fs ESCA 18 59483338 59483338 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr18:59483338C>T c.359G>A c.(358-360)cGc>cAc p.R120H GBM 18 59483671 59483672 + Frame_Shift_Del DEL AG AG - TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 g.chr18:59483671_59483672delAG c.25_26delCT c.(25-27)ctgfs p.L10fs GBMLGG 18 59483671 59483672 + Frame_Shift_Del DEL AG AG - TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 g.chr18:59483671_59483672delAG c.25_26delCT c.(25-27)ctgfs p.L10fs KIPAN 18 59483369 59483369 + Missense_Mutation SNP G G C TCGA-HE-A5NL-01A-11D-A26P-10 TCGA-HE-A5NL-10A-01D-A26P-10 g.chr18:59483369G>C c.328C>G c.(328-330)Cgt>Ggt p.R110G KIPAN 18 59483577 59483577 + Missense_Mutation SNP C C A TCGA-B9-5156-01A-01D-1589-08 TCGA-B9-5156-10A-01D-1589-08 g.chr18:59483577C>A c.120G>T c.(118-120)caG>caT p.Q40H KIRP 18 59483369 59483369 + Missense_Mutation SNP G G C TCGA-HE-A5NL-01A-11D-A26P-10 TCGA-HE-A5NL-10A-01D-A26P-10 g.chr18:59483369G>C c.328C>G c.(328-330)Cgt>Ggt p.R110G KIRP 18 59483577 59483577 + Missense_Mutation SNP C C A TCGA-B9-5156-01A-01D-1589-08 TCGA-B9-5156-10A-01D-1589-08 g.chr18:59483577C>A c.120G>T c.(118-120)caG>caT p.Q40H LIHC 18 59483299 59483299 + Missense_Mutation SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr18:59483299A>G c.398T>C c.(397-399)gTg>gCg p.V133A LIHC 18 59483459 59483459 + Missense_Mutation SNP C C T TCGA-DD-AAVV-01A-11D-A40R-10 TCGA-DD-AAVV-10A-01D-A40U-10 g.chr18:59483459C>T c.238G>A c.(238-240)Gcc>Acc p.A80T LUAD 18 59483159 59483159 + Missense_Mutation SNP C C A TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr18:59483159C>A c.538G>T c.(538-540)Gtc>Ttc p.V180F LUAD 18 59483224 59483224 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr18:59483224C>T c.473G>A c.(472-474)cGg>cAg p.R158Q LUAD 18 59483232 59483232 + Missense_Mutation SNP C C A TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr18:59483232C>A c.465G>T c.(463-465)caG>caT p.Q155H LUAD 18 59483267 59483267 + Missense_Mutation SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr18:59483267C>T c.430G>A c.(430-432)Ggt>Agt p.G144S LUAD 18 59483374 59483374 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr18:59483374T>A c.323A>T c.(322-324)aAg>aTg p.K108M LUAD 18 59483393 59483393 + Silent SNP G G A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chr18:59483393G>A c.304C>T c.(304-306)Ctg>Ttg p.L102L LUAD 18 59483405 59483405 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr18:59483405C>A c.292G>T c.(292-294)Ggg>Tgg p.G98W LUAD 18 59483460 59483460 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr18:59483460G>A c.237C>T c.(235-237)atC>atT p.I79I LUAD 18 59483517 59483517 + Silent SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr18:59483517C>A c.180G>T c.(178-180)ctG>ctT p.L60L LUAD 18 59483586 59483586 + Silent SNP C C T TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr18:59483586C>T c.111G>A c.(109-111)gtG>gtA p.V37V LUAD 18 59483688 59483688 + Silent SNP C C A TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr18:59483688C>A c.9G>T c.(7-9)acG>acT p.T3T LUAD 18 59483691 59483691 + Missense_Mutation SNP C C A TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr18:59483691C>A c.6G>T c.(4-6)gaG>gaT p.E2D LUSC 18 59483298 59483298 + Silent SNP C C A TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr18:59483298C>A c.399G>T c.(397-399)gtG>gtT p.V133V LUSC 18 59483590 59483590 + Missense_Mutation SNP G G A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr18:59483590G>A c.107C>T c.(106-108)tCa>tTa p.S36L PAAD 18 59483165 59483165 + Missense_Mutation SNP C C T TCGA-FB-AAQ2-01A-31D-A40W-08 TCGA-FB-AAQ2-11A-11D-A40W-08 g.chr18:59483165C>T c.532G>A c.(532-534)Gtc>Atc p.V178I PAAD 18 59483459 59483459 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:59483459C>T c.238G>A c.(238-240)Gcc>Acc p.A80T SKCM 18 59483100 59483100 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr18:59483100C>T c.597G>A c.(595-597)gtG>gtA p.V199V SKCM 18 59483147 59483147 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr18:59483147C>T c.550G>A c.(550-552)Ggc>Agc p.G184S SKCM 18 59483237 59483237 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr18:59483237C>T c.460G>A c.(460-462)Gag>Aag p.E154K SKCM 18 59483240 59483240 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr18:59483240C>T c.457G>A c.(457-459)Gag>Aag p.E153K SKCM 18 59483292 59483292 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr18:59483292G>A c.405C>T c.(403-405)atC>atT p.I135I SKCM 18 59483292 59483292 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr18:59483292G>A c.405C>T c.(403-405)atC>atT p.I135I SKCM 18 59483343 59483343 + Silent SNP G G A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr18:59483343G>A c.354C>T c.(352-354)ggC>ggT p.G118G SKCM 18 59483346 59483346 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr18:59483346C>T c.351G>A c.(349-351)atG>atA p.M117I SKCM 18 59483351 59483351 + Missense_Mutation SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr18:59483351C>T c.346G>A c.(346-348)Gac>Aac p.D116N SKCM 18 59483372 59483372 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr18:59483372C>T c.325G>A c.(325-327)Gag>Aag p.E109K SKCM 18 59483373 59483373 + Silent SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr18:59483373C>T c.324G>A c.(322-324)aaG>aaA p.K108K SKCM 18 59483414 59483414 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr18:59483414G>A c.283C>T c.(283-285)Ccc>Tcc p.P95S SKCM 18 59483414 59483414 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr18:59483414G>A c.283C>T c.(283-285)Ccc>Tcc p.P95S SKCM 18 59483414 59483414 + Missense_Mutation SNP G G A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr18:59483414G>A c.283C>T c.(283-285)Ccc>Tcc p.P95S SKCM 18 59483414 59483414 + Missense_Mutation SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr18:59483414G>A c.283C>T c.(283-285)Ccc>Tcc p.P95S SKCM 18 59483414 59483414 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr18:59483414G>A c.283C>T c.(283-285)Ccc>Tcc p.P95S SKCM 18 59483443 59483443 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr18:59483443G>A c.254C>T c.(253-255)tCc>tTc p.S85F SKCM 18 59483483 59483483 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr18:59483483C>T c.214G>A c.(214-216)Gac>Aac p.D72N SKCM 18 59483490 59483490 + Silent SNP G G A TCGA-DA-A1I8-06A-11D-A197-08 TCGA-DA-A1I8-10A-01D-A199-08 g.chr18:59483490G>A c.207C>T c.(205-207)ctC>ctT p.L69L SKCM 18 59483555 59483555 + Missense_Mutation SNP C C T TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr18:59483555C>T c.142G>A c.(142-144)Gat>Aat p.D48N SKCM 18 59483635 59483635 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr18:59483635G>A c.62C>T c.(61-63)cCc>cTc p.P21L SKCM 18 59483636 59483636 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr18:59483636G>A c.61C>T c.(61-63)Ccc>Tcc p.P21S SKCM 18 59483667 59483667 + Silent SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr18:59483667C>T c.30G>A c.(28-30)ctG>ctA p.L10L SKCM 18 59483681 59483681 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr18:59483681G>A c.16C>T c.(16-18)Cag>Tag p.Q6* SKCM 18 59483682 59483682 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr18:59483682G>A c.15C>T c.(13-15)tcC>tcT p.S5S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 18 59483323 59483323 single base substitution C G downstream_gene_variant BLCA-US 18 59483323 59483323 single base substitution C G missense_variant S125T 374G>C BRCA-EU 18 59473653 59473653 single base substitution G C downstream_gene_variant BRCA-EU 18 59474432 59474432 single base substitution C A downstream_gene_variant BRCA-EU 18 59475077 59475077 single base substitution T A downstream_gene_variant BRCA-EU 18 59476060 59476060 single base substitution C A 3_prime_UTR_variant BRCA-EU 18 59476405 59476405 single base substitution T G 3_prime_UTR_variant BRCA-EU 18 59476826 59476826 single base substitution T G 3_prime_UTR_variant BRCA-EU 18 59477208 59477208 single base substitution C T 3_prime_UTR_variant BRCA-EU 18 59479304 59479305 deletion of <=200bp CT - 3_prime_UTR_variant BRCA-EU 18 59479304 59479305 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 18 59480694 59480694 single base substitution A G 3_prime_UTR_variant BRCA-EU 18 59480694 59480694 single base substitution A G downstream_gene_variant BRCA-EU 18 59480768 59480768 single base substitution T C 3_prime_UTR_variant BRCA-EU 18 59480768 59480768 single base substitution T C downstream_gene_variant BRCA-EU 18 59481022 59481022 insertion of <=200bp - GT 3_prime_UTR_variant BRCA-EU 18 59481022 59481022 insertion of <=200bp - GT downstream_gene_variant BRCA-EU 18 59483688 59483688 single base substitution C T synonymous_variant T3T 9G>A BRCA-EU 18 59484670 59484670 single base substitution C A intron_variant BRCA-EU 18 59486067 59486067 single base substitution T A intron_variant BRCA-EU 18 59486361 59486361 single base substitution G C intron_variant BRCA-EU 18 59487638 59487638 deletion of <=200bp T - intron_variant BRCA-EU 18 59489336 59489336 single base substitution A T intron_variant BRCA-EU 18 59490236 59490236 single base substitution T A intron_variant BRCA-EU 18 59493557 59493557 single base substitution C G intron_variant BRCA-EU 18 59496051 59496051 single base substitution G C intron_variant BRCA-EU 18 59496276 59496276 single base substitution C T intron_variant BRCA-EU 18 59496525 59496525 single base substitution C A intron_variant BRCA-EU 18 59496624 59496624 single base substitution G A intron_variant BRCA-EU 18 59497510 59497510 single base substitution C T intron_variant BRCA-EU 18 59498230 59498230 single base substitution A G intron_variant BRCA-EU 18 59498289 59498289 single base substitution T A intron_variant BRCA-EU 18 59498691 59498691 single base substitution C T intron_variant BRCA-EU 18 59499048 59499048 single base substitution C A intron_variant BRCA-EU 18 59499049 59499049 single base substitution T A intron_variant BRCA-EU 18 59499050 59499050 single base substitution T A intron_variant BRCA-EU 18 59499694 59499694 single base substitution C T intron_variant BRCA-EU 18 59501431 59501431 single base substitution G T intron_variant BRCA-EU 18 59502781 59502793 deletion of <=200bp ATGACTTTTTTGA - intron_variant BRCA-EU 18 59504106 59504106 single base substitution C A intron_variant BRCA-EU 18 59511925 59511925 single base substitution G C intron_variant BRCA-EU 18 59511960 59511960 single base substitution C T intron_variant BRCA-EU 18 59512540 59512540 single base substitution A C intron_variant BRCA-EU 18 59513309 59513309 single base substitution C G intron_variant BRCA-EU 18 59514168 59514168 single base substitution G A intron_variant BRCA-EU 18 59514263 59514263 single base substitution A C intron_variant BRCA-EU 18 59514290 59514290 single base substitution C A intron_variant BRCA-EU 18 59514564 59514564 single base substitution G A intron_variant BRCA-EU 18 59516539 59516539 single base substitution A C intron_variant BRCA-EU 18 59519937 59519937 single base substitution A G intron_variant BRCA-EU 18 59521653 59521653 single base substitution C T intron_variant BRCA-EU 18 59523406 59523406 single base substitution G A intron_variant BRCA-EU 18 59523422 59523422 single base substitution G C intron_variant BRCA-EU 18 59523943 59523943 single base substitution G T intron_variant BRCA-EU 18 59524433 59524433 single base substitution T C intron_variant BRCA-EU 18 59524509 59524509 single base substitution C G intron_variant BRCA-EU 18 59525657 59525657 single base substitution C A intron_variant BRCA-EU 18 59526564 59526564 single base substitution G A intron_variant BRCA-EU 18 59526628 59526628 single base substitution C T intron_variant BRCA-EU 18 59527558 59527558 single base substitution C A intron_variant BRCA-EU 18 59530466 59530466 single base substitution G A intron_variant BRCA-EU 18 59531115 59531115 single base substitution G C intron_variant BRCA-EU 18 59531125 59531125 single base substitution G A intron_variant BRCA-EU 18 59531488 59531491 deletion of <=200bp CTGA - intron_variant BRCA-EU 18 59534327 59534327 single base substitution G C intron_variant BRCA-EU 18 59534522 59534522 deletion of <=200bp A - intron_variant BRCA-EU 18 59534686 59534686 single base substitution A C intron_variant BRCA-EU 18 59535322 59535322 single base substitution C G intron_variant BRCA-EU 18 59539177 59539177 single base substitution A C downstream_gene_variant BRCA-EU 18 59539177 59539177 single base substitution A C intron_variant BRCA-EU 18 59539952 59539954 deletion of <=200bp ATC - downstream_gene_variant BRCA-EU 18 59539952 59539954 deletion of <=200bp ATC - intron_variant BRCA-EU 18 59540489 59540489 insertion of <=200bp - T downstream_gene_variant BRCA-EU 18 59540489 59540489 insertion of <=200bp - T intron_variant BRCA-EU 18 59543108 59543108 single base substitution T A intron_variant BRCA-EU 18 59543689 59543689 insertion of <=200bp - A intron_variant BRCA-EU 18 59544295 59544295 single base substitution T C intron_variant BRCA-EU 18 59544803 59544803 single base substitution G C intron_variant BRCA-EU 18 59546277 59546277 single base substitution C G intron_variant BRCA-EU 18 59546599 59546599 single base substitution A G intron_variant BRCA-EU 18 59546963 59546963 single base substitution G A intron_variant BRCA-EU 18 59547869 59547869 single base substitution C T intron_variant BRCA-EU 18 59548154 59548154 single base substitution T G intron_variant BRCA-EU 18 59548687 59548687 single base substitution G C intron_variant BRCA-EU 18 59550293 59550293 single base substitution T C intron_variant BRCA-EU 18 59550973 59550973 single base substitution G A downstream_gene_variant BRCA-EU 18 59550973 59550973 single base substitution G A intron_variant BRCA-EU 18 59554343 59554343 single base substitution A C downstream_gene_variant BRCA-EU 18 59554343 59554343 single base substitution A C intron_variant BRCA-EU 18 59555862 59555862 single base substitution T C intron_variant BRCA-EU 18 59556345 59556345 single base substitution C G intron_variant BRCA-EU 18 59558763 59558763 single base substitution C T intron_variant BRCA-EU 18 59559261 59559261 insertion of <=200bp - T intron_variant BRCA-EU 18 59560388 59560388 single base substitution G T 5_prime_UTR_variant BRCA-EU 18 59560388 59560388 single base substitution G T intron_variant BRCA-EU 18 59560644 59560644 single base substitution C T 5_prime_UTR_variant BRCA-EU 18 59560644 59560644 single base substitution C T exon_variant BRCA-EU 18 59560644 59560644 single base substitution C T intron_variant BRCA-EU 18 59565206 59565206 insertion of <=200bp - T upstream_gene_variant BRCA-EU 18 59565665 59565665 single base substitution C T upstream_gene_variant BRCA-FR 18 59470617 59470617 single base substitution G C downstream_gene_variant BRCA-FR 18 59471053 59471053 single base substitution C A downstream_gene_variant BRCA-FR 18 59486928 59486928 single base substitution A C intron_variant BRCA-FR 18 59493557 59493557 single base substitution C G intron_variant BRCA-FR 18 59526628 59526628 single base substitution C T intron_variant BRCA-FR 18 59531115 59531115 single base substitution G C intron_variant BRCA-FR 18 59547869 59547869 single base substitution C T intron_variant BRCA-UK 18 59488595 59488595 single base substitution C G intron_variant BRCA-UK 18 59521653 59521653 single base substitution C T intron_variant BRCA-UK 18 59525657 59525657 single base substitution C A intron_variant BRCA-UK 18 59554012 59554012 single base substitution G C downstream_gene_variant BRCA-UK 18 59554012 59554012 single base substitution G C intron_variant BTCA-JP 18 59483488 59483488 single base substitution G A missense_variant P70L 209C>T BTCA-JP 18 59483496 59483496 single base substitution C T synonymous_variant S67S 201G>A CESC-US 18 59483144 59483144 single base substitution T C downstream_gene_variant CESC-US 18 59483144 59483144 single base substitution T C missense_variant I185V 553A>G CESC-US 18 59560071 59560071 single base substitution C T 5_prime_UTR_variant CESC-US 18 59560071 59560071 single base substitution C T exon_variant CLLE-ES 18 59490473 59490473 single base substitution A T intron_variant CLLE-ES 18 59497647 59497647 single base substitution C G intron_variant CLLE-ES 18 59503026 59503026 single base substitution G T intron_variant CLLE-ES 18 59505000 59505000 single base substitution A C intron_variant CLLE-ES 18 59505108 59505108 single base substitution G C intron_variant CLLE-ES 18 59511035 59511035 single base substitution G A intron_variant CLLE-ES 18 59533446 59533446 single base substitution C T intron_variant CLLE-ES 18 59540979 59540979 single base substitution G A downstream_gene_variant CLLE-ES 18 59540979 59540979 single base substitution G A intron_variant COAD-US 18 59483365 59483365 single base substitution G A missense_variant A111V 332C>T COAD-US 18 59483514 59483514 single base substitution A G synonymous_variant P61P 183T>C COCA-CN 18 59483248 59483248 single base substitution G A downstream_gene_variant COCA-CN 18 59483248 59483248 single base substitution G A missense_variant A150V 449C>T COCA-CN 18 59483502 59483502 single base substitution G A synonymous_variant S65S 195C>T COCA-CN 18 59483633 59483633 single base substitution G A missense_variant R22W 64C>T COCA-CN 18 59483762 59483762 single base substitution C T 5_prime_UTR_variant EOPC-DE 18 59496777 59496777 single base substitution T G intron_variant EOPC-DE 18 59528776 59528776 single base substitution T C intron_variant ESAD-UK 18 59474121 59474121 single base substitution C T downstream_gene_variant ESAD-UK 18 59475176 59475176 single base substitution T A downstream_gene_variant ESAD-UK 18 59476575 59476575 single base substitution T C 3_prime_UTR_variant ESAD-UK 18 59478995 59478995 single base substitution T G 3_prime_UTR_variant ESAD-UK 18 59478995 59478995 single base substitution T G downstream_gene_variant ESAD-UK 18 59479661 59479661 single base substitution A G 3_prime_UTR_variant ESAD-UK 18 59479661 59479661 single base substitution A G downstream_gene_variant ESAD-UK 18 59483672 59483672 single base substitution G C missense_variant L9V 25C>G ESAD-UK 18 59489444 59489444 single base substitution G A intron_variant ESAD-UK 18 59490185 59490185 single base substitution C T intron_variant ESAD-UK 18 59490824 59490824 single base substitution G A intron_variant ESAD-UK 18 59491174 59491174 single base substitution G A intron_variant ESAD-UK 18 59491925 59491925 single base substitution T A intron_variant ESAD-UK 18 59492228 59492228 single base substitution C A intron_variant ESAD-UK 18 59492554 59492554 insertion of <=200bp - C intron_variant ESAD-UK 18 59495613 59495613 single base substitution T A intron_variant ESAD-UK 18 59498849 59498849 deletion of <=200bp A - intron_variant ESAD-UK 18 59499149 59499150 deletion of <=200bp TG - intron_variant ESAD-UK 18 59499200 59499200 single base substitution T A intron_variant ESAD-UK 18 59501451 59501451 single base substitution T C intron_variant ESAD-UK 18 59501490 59501490 single base substitution G C intron_variant ESAD-UK 18 59501840 59501840 single base substitution G C intron_variant ESAD-UK 18 59505910 59505910 single base substitution G A intron_variant ESAD-UK 18 59507175 59507175 single base substitution C T intron_variant ESAD-UK 18 59508291 59508291 single base substitution C G intron_variant ESAD-UK 18 59511122 59511122 single base substitution T C intron_variant ESAD-UK 18 59512350 59512350 single base substitution A G intron_variant ESAD-UK 18 59513155 59513155 insertion of <=200bp - T intron_variant ESAD-UK 18 59513264 59513264 single base substitution A G intron_variant ESAD-UK 18 59513718 59513718 single base substitution G T intron_variant ESAD-UK 18 59514263 59514263 single base substitution A G intron_variant ESAD-UK 18 59515305 59515305 single base substitution A G intron_variant ESAD-UK 18 59516073 59516073 single base substitution G T intron_variant ESAD-UK 18 59516126 59516126 single base substitution C T intron_variant ESAD-UK 18 59516793 59516793 single base substitution C A intron_variant ESAD-UK 18 59517511 59517511 single base substitution G A intron_variant ESAD-UK 18 59519879 59519879 single base substitution C T intron_variant ESAD-UK 18 59524818 59524818 single base substitution T G intron_variant ESAD-UK 18 59525011 59525011 single base substitution T G intron_variant ESAD-UK 18 59525040 59525040 single base substitution G T intron_variant ESAD-UK 18 59525154 59525154 single base substitution A C intron_variant ESAD-UK 18 59525828 59525828 single base substitution G T intron_variant ESAD-UK 18 59527454 59527454 single base substitution A T intron_variant ESAD-UK 18 59529607 59529607 single base substitution G A intron_variant ESAD-UK 18 59532789 59532789 single base substitution G A intron_variant ESAD-UK 18 59534221 59534221 single base substitution G C intron_variant ESAD-UK 18 59534576 59534576 single base substitution T C intron_variant ESAD-UK 18 59540546 59540546 single base substitution C A downstream_gene_variant ESAD-UK 18 59540546 59540546 single base substitution C A intron_variant ESAD-UK 18 59540859 59540859 single base substitution G A downstream_gene_variant ESAD-UK 18 59540859 59540859 single base substitution G A intron_variant ESAD-UK 18 59541465 59541465 single base substitution G C downstream_gene_variant ESAD-UK 18 59541465 59541465 single base substitution G C intron_variant ESAD-UK 18 59542367 59542367 single base substitution A G intron_variant ESAD-UK 18 59542902 59542902 single base substitution G A intron_variant ESAD-UK 18 59543966 59543966 single base substitution T G intron_variant ESAD-UK 18 59544749 59544749 single base substitution T G intron_variant ESAD-UK 18 59548455 59548455 single base substitution C T intron_variant ESAD-UK 18 59548961 59548961 single base substitution G T intron_variant ESAD-UK 18 59551426 59551426 insertion of <=200bp - A downstream_gene_variant ESAD-UK 18 59551426 59551426 insertion of <=200bp - A intron_variant ESAD-UK 18 59553379 59553379 single base substitution T C downstream_gene_variant ESAD-UK 18 59553379 59553379 single base substitution T C intron_variant ESAD-UK 18 59556468 59556468 single base substitution G A intron_variant ESAD-UK 18 59556615 59556615 single base substitution G T intron_variant ESAD-UK 18 59558635 59558635 single base substitution G C intron_variant ESAD-UK 18 59559368 59559368 single base substitution C T intron_variant ESAD-UK 18 59565406 59565406 single base substitution G C upstream_gene_variant ESCA-CN 18 59482976 59482976 single base substitution G A 3_prime_UTR_variant ESCA-CN 18 59482976 59482976 single base substitution G A downstream_gene_variant GBM-US 18 59483671 59483672 deletion of <=200bp AG - frameshift_variant L9 KIRP-US 18 59483369 59483369 single base substitution G C missense_variant R110G 328C>G KIRP-US 18 59483577 59483577 single base substitution C A missense_variant Q40H 120G>T LICA-FR 18 59474189 59474189 single base substitution G T downstream_gene_variant LICA-FR 18 59483325 59483325 deletion of <=200bp C - downstream_gene_variant LICA-FR 18 59483325 59483325 deletion of <=200bp C - frameshift_variant G124 LICA-FR 18 59504475 59504475 single base substitution G C intron_variant LICA-FR 18 59504773 59504773 single base substitution C T intron_variant LICA-FR 18 59505329 59505329 single base substitution C T intron_variant LICA-FR 18 59511442 59511442 single base substitution A G intron_variant LICA-FR 18 59513875 59513875 single base substitution T C intron_variant LICA-FR 18 59523455 59523455 single base substitution A C intron_variant LICA-FR 18 59527839 59527839 single base substitution T C intron_variant LICA-FR 18 59546247 59546247 single base substitution T C intron_variant LICA-FR 18 59547214 59547214 single base substitution A T intron_variant LICA-FR 18 59563451 59563454 deletion of <=200bp TTTT - upstream_gene_variant LINC-JP 18 59477296 59477298 deletion of <=200bp TAC - 3_prime_UTR_variant LINC-JP 18 59478280 59478280 single base substitution C A 3_prime_UTR_variant LINC-JP 18 59482910 59482910 single base substitution T C 3_prime_UTR_variant LINC-JP 18 59482910 59482910 single base substitution T C downstream_gene_variant LINC-JP 18 59483368 59483368 single base substitution C A missense_variant R110L 329G>T LINC-JP 18 59487564 59487564 single base substitution C A intron_variant LINC-JP 18 59498293 59498293 single base substitution G T intron_variant LINC-JP 18 59500188 59500188 single base substitution G A intron_variant LINC-JP 18 59507438 59507438 single base substitution A T intron_variant LINC-JP 18 59542030 59542030 single base substitution G T downstream_gene_variant LINC-JP 18 59542030 59542030 single base substitution G T intron_variant LINC-JP 18 59546343 59546343 single base substitution G A intron_variant LINC-JP 18 59547667 59547667 single base substitution A T intron_variant LINC-JP 18 59549342 59549342 single base substitution C T intron_variant LINC-JP 18 59549540 59549540 single base substitution T C intron_variant LIRI-JP 18 59474670 59474671 deletion of <=200bp TT - downstream_gene_variant LIRI-JP 18 59476267 59476267 single base substitution T G 3_prime_UTR_variant LIRI-JP 18 59476299 59476299 single base substitution C G 3_prime_UTR_variant LIRI-JP 18 59480255 59480255 single base substitution T C 3_prime_UTR_variant LIRI-JP 18 59480255 59480255 single base substitution T C downstream_gene_variant LIRI-JP 18 59481758 59481758 single base substitution T C 3_prime_UTR_variant LIRI-JP 18 59481758 59481758 single base substitution T C downstream_gene_variant LIRI-JP 18 59482914 59482914 single base substitution G A 3_prime_UTR_variant LIRI-JP 18 59482914 59482914 single base substitution G A downstream_gene_variant LIRI-JP 18 59484094 59484094 single base substitution T C intron_variant LIRI-JP 18 59486072 59486072 single base substitution T C intron_variant LIRI-JP 18 59487752 59487752 single base substitution G T intron_variant LIRI-JP 18 59488009 59488009 single base substitution C T intron_variant LIRI-JP 18 59488836 59488836 single base substitution T C intron_variant LIRI-JP 18 59488856 59488856 single base substitution T C intron_variant LIRI-JP 18 59492454 59492454 single base substitution T C intron_variant LIRI-JP 18 59494037 59494037 single base substitution C G intron_variant LIRI-JP 18 59494067 59494067 single base substitution T C intron_variant LIRI-JP 18 59494586 59494586 single base substitution T C intron_variant LIRI-JP 18 59496172 59496172 single base substitution C T intron_variant LIRI-JP 18 59498648 59498648 single base substitution A G intron_variant LIRI-JP 18 59499133 59499133 single base substitution T C intron_variant LIRI-JP 18 59499299 59499299 single base substitution T C intron_variant LIRI-JP 18 59499791 59499797 deletion of <=200bp CTTTGTG - intron_variant LIRI-JP 18 59500468 59500468 single base substitution G A intron_variant LIRI-JP 18 59503666 59503666 single base substitution G T intron_variant LIRI-JP 18 59508604 59508604 single base substitution T C intron_variant LIRI-JP 18 59509158 59509158 single base substitution C T intron_variant LIRI-JP 18 59510375 59510375 single base substitution C A intron_variant LIRI-JP 18 59510375 59510375 single base substitution C T intron_variant LIRI-JP 18 59511231 59511231 single base substitution A C intron_variant LIRI-JP 18 59512584 59512584 single base substitution A T intron_variant LIRI-JP 18 59514089 59514089 single base substitution T C intron_variant LIRI-JP 18 59514776 59514776 single base substitution T A intron_variant LIRI-JP 18 59515446 59515446 single base substitution C T intron_variant LIRI-JP 18 59517631 59517631 single base substitution T C intron_variant LIRI-JP 18 59519449 59519449 single base substitution A G intron_variant LIRI-JP 18 59519714 59519714 single base substitution A G intron_variant LIRI-JP 18 59521883 59521883 single base substitution C T intron_variant LIRI-JP 18 59521970 59521970 single base substitution G T intron_variant LIRI-JP 18 59522986 59522986 single base substitution C T intron_variant LIRI-JP 18 59524689 59524689 single base substitution T C intron_variant LIRI-JP 18 59525038 59525038 single base substitution T C intron_variant LIRI-JP 18 59525718 59525718 single base substitution T A intron_variant LIRI-JP 18 59528043 59528043 single base substitution A C intron_variant LIRI-JP 18 59528588 59528588 single base substitution T C intron_variant LIRI-JP 18 59530623 59530623 single base substitution G A intron_variant LIRI-JP 18 59531958 59531958 single base substitution T A intron_variant LIRI-JP 18 59534642 59534642 single base substitution G A intron_variant LIRI-JP 18 59538670 59538670 single base substitution C T downstream_gene_variant LIRI-JP 18 59538670 59538670 single base substitution C T intron_variant LIRI-JP 18 59538932 59538932 single base substitution G A downstream_gene_variant LIRI-JP 18 59538932 59538932 single base substitution G A intron_variant LIRI-JP 18 59539251 59539251 single base substitution T A downstream_gene_variant LIRI-JP 18 59539251 59539251 single base substitution T A intron_variant LIRI-JP 18 59539730 59539730 single base substitution T C downstream_gene_variant LIRI-JP 18 59539730 59539730 single base substitution T C intron_variant LIRI-JP 18 59540333 59540333 single base substitution C G downstream_gene_variant LIRI-JP 18 59540333 59540333 single base substitution C G intron_variant LIRI-JP 18 59541427 59541427 insertion of <=200bp - A downstream_gene_variant LIRI-JP 18 59541427 59541427 insertion of <=200bp - A intron_variant LIRI-JP 18 59543048 59543048 single base substitution G C intron_variant LIRI-JP 18 59544538 59544538 single base substitution T G intron_variant LIRI-JP 18 59546403 59546403 single base substitution G T intron_variant LIRI-JP 18 59549700 59549700 single base substitution A T intron_variant LIRI-JP 18 59555370 59555370 single base substitution C A exon_variant LIRI-JP 18 59555370 59555370 single base substitution C A intron_variant LIRI-JP 18 59557236 59557236 single base substitution T C intron_variant LIRI-JP 18 59559236 59559236 single base substitution T C intron_variant LIRI-JP 18 59559883 59559883 single base substitution T C intron_variant LIRI-JP 18 59565034 59565034 single base substitution A G upstream_gene_variant LUSC-KR 18 59471667 59471667 single base substitution G A downstream_gene_variant LUSC-KR 18 59473213 59473213 single base substitution C T downstream_gene_variant LUSC-KR 18 59473220 59473220 single base substitution C A downstream_gene_variant LUSC-KR 18 59473542 59473542 single base substitution C A downstream_gene_variant LUSC-KR 18 59480515 59480515 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 59480515 59480515 single base substitution A T downstream_gene_variant LUSC-KR 18 59480987 59480987 single base substitution T A 3_prime_UTR_variant LUSC-KR 18 59480987 59480987 single base substitution T A downstream_gene_variant LUSC-KR 18 59485805 59485805 single base substitution T C intron_variant LUSC-KR 18 59485953 59485953 single base substitution C A intron_variant LUSC-KR 18 59486575 59486575 single base substitution C A intron_variant LUSC-KR 18 59486576 59486576 single base substitution C A intron_variant LUSC-KR 18 59490024 59490024 single base substitution G T intron_variant LUSC-KR 18 59492110 59492110 single base substitution C A intron_variant LUSC-KR 18 59492111 59492111 single base substitution T A intron_variant LUSC-KR 18 59492381 59492381 single base substitution T C intron_variant LUSC-KR 18 59492978 59492978 single base substitution G C intron_variant LUSC-KR 18 59494073 59494073 single base substitution C A intron_variant LUSC-KR 18 59494716 59494716 single base substitution T C intron_variant LUSC-KR 18 59496238 59496238 single base substitution G A intron_variant LUSC-KR 18 59497273 59497273 single base substitution G T intron_variant LUSC-KR 18 59503975 59503975 single base substitution T A intron_variant LUSC-KR 18 59505218 59505218 single base substitution G C intron_variant LUSC-KR 18 59505400 59505400 single base substitution C T intron_variant LUSC-KR 18 59505639 59505639 single base substitution C T intron_variant LUSC-KR 18 59508605 59508605 single base substitution C A intron_variant LUSC-KR 18 59511292 59511292 single base substitution G A intron_variant LUSC-KR 18 59511834 59511834 single base substitution T A intron_variant LUSC-KR 18 59511835 59511835 single base substitution C A intron_variant LUSC-KR 18 59512026 59512026 single base substitution G T intron_variant LUSC-KR 18 59512981 59512981 single base substitution C A intron_variant LUSC-KR 18 59516006 59516006 single base substitution G A intron_variant LUSC-KR 18 59519838 59519838 single base substitution A T intron_variant LUSC-KR 18 59521528 59521528 single base substitution G A intron_variant LUSC-KR 18 59523997 59523997 single base substitution C G intron_variant LUSC-KR 18 59532239 59532239 single base substitution G A intron_variant LUSC-KR 18 59532832 59532832 single base substitution T C intron_variant LUSC-KR 18 59533010 59533010 single base substitution C A intron_variant LUSC-KR 18 59536215 59536215 single base substitution T C intron_variant LUSC-KR 18 59538105 59538105 single base substitution C A downstream_gene_variant LUSC-KR 18 59538105 59538105 single base substitution C A intron_variant LUSC-KR 18 59539438 59539438 single base substitution C G downstream_gene_variant LUSC-KR 18 59539438 59539438 single base substitution C G intron_variant LUSC-KR 18 59540637 59540637 single base substitution C A downstream_gene_variant LUSC-KR 18 59540637 59540637 single base substitution C A intron_variant LUSC-KR 18 59543122 59543122 single base substitution C A intron_variant LUSC-KR 18 59543194 59543194 single base substitution C G intron_variant LUSC-KR 18 59547053 59547053 single base substitution C A intron_variant LUSC-KR 18 59553964 59553964 single base substitution C A downstream_gene_variant LUSC-KR 18 59553964 59553964 single base substitution C A intron_variant LUSC-KR 18 59554209 59554209 single base substitution G A downstream_gene_variant LUSC-KR 18 59554209 59554209 single base substitution G A intron_variant LUSC-KR 18 59554958 59554958 single base substitution T A downstream_gene_variant LUSC-KR 18 59554958 59554958 single base substitution T A intron_variant LUSC-KR 18 59560233 59560233 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 18 59560233 59560233 single base substitution G C intron_variant LUSC-KR 18 59561094 59561094 single base substitution C A intron_variant LUSC-KR 18 59561094 59561094 single base substitution C A upstream_gene_variant LUSC-US 18 59483298 59483298 single base substitution C A downstream_gene_variant LUSC-US 18 59483298 59483298 single base substitution C A synonymous_variant V133V 399G>T LUSC-US 18 59483590 59483590 single base substitution G A missense_variant S36L 107C>T MALY-DE 18 59470981 59470981 deletion of <=200bp A - downstream_gene_variant MALY-DE 18 59470981 59470981 insertion of <=200bp - A downstream_gene_variant MALY-DE 18 59473053 59473053 single base substitution T G downstream_gene_variant MALY-DE 18 59473442 59473442 single base substitution A G downstream_gene_variant MALY-DE 18 59473444 59473444 single base substitution A T downstream_gene_variant MALY-DE 18 59473446 59473446 single base substitution C G downstream_gene_variant MALY-DE 18 59475621 59475628 deletion of <=200bp AAAAAAAA - 3_prime_UTR_variant MALY-DE 18 59476946 59476946 single base substitution T G 3_prime_UTR_variant MALY-DE 18 59477749 59477749 single base substitution C T 3_prime_UTR_variant MALY-DE 18 59479464 59479464 single base substitution C A 3_prime_UTR_variant MALY-DE 18 59479464 59479464 single base substitution C A downstream_gene_variant MALY-DE 18 59479527 59479527 single base substitution C T 3_prime_UTR_variant MALY-DE 18 59479527 59479527 single base substitution C T downstream_gene_variant MALY-DE 18 59485232 59485232 single base substitution G A intron_variant MALY-DE 18 59487544 59487547 deletion of <=200bp AGAG - intron_variant MALY-DE 18 59488640 59488640 single base substitution C T intron_variant MALY-DE 18 59491817 59491817 single base substitution A T intron_variant MALY-DE 18 59492104 59492104 single base substitution A T intron_variant MALY-DE 18 59498814 59498814 single base substitution C T intron_variant MALY-DE 18 59499011 59499011 single base substitution C A intron_variant MALY-DE 18 59499259 59499259 single base substitution G A intron_variant MALY-DE 18 59500407 59500407 single base substitution G C intron_variant MALY-DE 18 59502450 59502450 single base substitution A G intron_variant MALY-DE 18 59505341 59505341 single base substitution A G intron_variant MALY-DE 18 59505984 59505984 single base substitution G T intron_variant MALY-DE 18 59508184 59508184 single base substitution G A intron_variant MALY-DE 18 59511825 59511825 deletion of <=200bp T - intron_variant MALY-DE 18 59512858 59512858 single base substitution T G intron_variant MALY-DE 18 59516687 59516687 single base substitution G C intron_variant MALY-DE 18 59519797 59519797 single base substitution C T intron_variant MALY-DE 18 59521036 59521036 single base substitution T C intron_variant MALY-DE 18 59521583 59521583 insertion of <=200bp - A intron_variant MALY-DE 18 59526214 59526214 single base substitution C T intron_variant MALY-DE 18 59527174 59527174 single base substitution A C intron_variant MALY-DE 18 59531142 59531142 single base substitution G A intron_variant MALY-DE 18 59537087 59537087 single base substitution T G intron_variant MALY-DE 18 59539414 59539414 single base substitution G C downstream_gene_variant MALY-DE 18 59539414 59539414 single base substitution G C intron_variant MALY-DE 18 59539690 59539690 insertion of <=200bp - G downstream_gene_variant MALY-DE 18 59539690 59539690 insertion of <=200bp - G intron_variant MALY-DE 18 59545991 59545991 single base substitution T C intron_variant MALY-DE 18 59548168 59548168 single base substitution C T intron_variant MALY-DE 18 59550261 59550261 single base substitution C A intron_variant MALY-DE 18 59551800 59551800 single base substitution G A downstream_gene_variant MALY-DE 18 59551800 59551800 single base substitution G A intron_variant MALY-DE 18 59551906 59551906 single base substitution C T downstream_gene_variant MALY-DE 18 59551906 59551906 single base substitution C T intron_variant MALY-DE 18 59552167 59552167 single base substitution G A downstream_gene_variant MALY-DE 18 59552167 59552167 single base substitution G A intron_variant MALY-DE 18 59557266 59557266 single base substitution C T intron_variant MALY-DE 18 59562535 59562535 single base substitution G A upstream_gene_variant MALY-DE 18 59566093 59566093 single base substitution T G upstream_gene_variant MELA-AU 18 59470300 59470300 single base substitution T C downstream_gene_variant MELA-AU 18 59470327 59470327 single base substitution T A downstream_gene_variant MELA-AU 18 59470341 59470341 single base substitution G A downstream_gene_variant MELA-AU 18 59470387 59470387 single base substitution C T downstream_gene_variant MELA-AU 18 59470497 59470497 single base substitution C T downstream_gene_variant MELA-AU 18 59470556 59470556 single base substitution A C downstream_gene_variant MELA-AU 18 59470617 59470617 single base substitution G A downstream_gene_variant MELA-AU 18 59470707 59470707 single base substitution G A downstream_gene_variant MELA-AU 18 59470735 59470736 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 18 59470737 59470737 single base substitution G A downstream_gene_variant MELA-AU 18 59470746 59470746 single base substitution C T downstream_gene_variant MELA-AU 18 59470761 59470761 single base substitution C T downstream_gene_variant MELA-AU 18 59470787 59470787 single base substitution C T downstream_gene_variant MELA-AU 18 59470815 59470815 single base substitution C T downstream_gene_variant MELA-AU 18 59470879 59470879 single base substitution C T downstream_gene_variant MELA-AU 18 59470882 59470882 single base substitution C T downstream_gene_variant MELA-AU 18 59470933 59470933 single base substitution G A downstream_gene_variant MELA-AU 18 59470988 59470988 single base substitution A T downstream_gene_variant MELA-AU 18 59471044 59471044 single base substitution C T downstream_gene_variant MELA-AU 18 59471172 59471172 single base substitution C T downstream_gene_variant MELA-AU 18 59471195 59471195 single base substitution G A downstream_gene_variant MELA-AU 18 59471276 59471276 single base substitution G A downstream_gene_variant MELA-AU 18 59471324 59471324 single base substitution G A downstream_gene_variant MELA-AU 18 59471577 59471577 single base substitution G A downstream_gene_variant MELA-AU 18 59471592 59471592 single base substitution C T downstream_gene_variant MELA-AU 18 59471748 59471748 single base substitution C T downstream_gene_variant MELA-AU 18 59471928 59471928 single base substitution C T downstream_gene_variant MELA-AU 18 59471957 59471957 single base substitution A T downstream_gene_variant MELA-AU 18 59471959 59471959 single base substitution C T downstream_gene_variant MELA-AU 18 59471990 59471990 single base substitution C T downstream_gene_variant MELA-AU 18 59472056 59472056 single base substitution C T downstream_gene_variant MELA-AU 18 59472067 59472067 single base substitution C T downstream_gene_variant MELA-AU 18 59472090 59472090 single base substitution C T downstream_gene_variant MELA-AU 18 59472100 59472100 single base substitution T C downstream_gene_variant MELA-AU 18 59472142 59472142 single base substitution C T downstream_gene_variant MELA-AU 18 59472160 59472160 single base substitution C T downstream_gene_variant MELA-AU 18 59472234 59472234 single base substitution G A downstream_gene_variant MELA-AU 18 59472281 59472281 single base substitution C T downstream_gene_variant MELA-AU 18 59472321 59472321 single base substitution C T downstream_gene_variant MELA-AU 18 59472337 59472337 single base substitution C T downstream_gene_variant MELA-AU 18 59472374 59472374 single base substitution C T downstream_gene_variant MELA-AU 18 59472386 59472386 single base substitution C T downstream_gene_variant MELA-AU 18 59472445 59472445 single base substitution G A downstream_gene_variant MELA-AU 18 59472460 59472460 single base substitution G A downstream_gene_variant MELA-AU 18 59472467 59472467 single base substitution G A downstream_gene_variant MELA-AU 18 59472471 59472471 single base substitution G A downstream_gene_variant MELA-AU 18 59472500 59472500 deletion of <=200bp C - downstream_gene_variant MELA-AU 18 59472536 59472536 single base substitution C T downstream_gene_variant MELA-AU 18 59472616 59472616 single base substitution G A downstream_gene_variant MELA-AU 18 59472642 59472642 single base substitution T C downstream_gene_variant MELA-AU 18 59472742 59472742 single base substitution G A downstream_gene_variant MELA-AU 18 59472825 59472825 single base substitution G A downstream_gene_variant MELA-AU 18 59472847 59472847 single base substitution C T downstream_gene_variant MELA-AU 18 59472864 59472864 single base substitution A T downstream_gene_variant MELA-AU 18 59472870 59472870 single base substitution C T downstream_gene_variant MELA-AU 18 59472871 59472871 single base substitution C T downstream_gene_variant MELA-AU 18 59472908 59472908 single base substitution C T downstream_gene_variant MELA-AU 18 59472916 59472916 single base substitution T C downstream_gene_variant MELA-AU 18 59472952 59472952 single base substitution G A downstream_gene_variant MELA-AU 18 59472987 59472987 single base substitution C T downstream_gene_variant MELA-AU 18 59473013 59473013 single base substitution T A downstream_gene_variant MELA-AU 18 59473069 59473069 single base substitution G A downstream_gene_variant MELA-AU 18 59473211 59473211 single base substitution T A downstream_gene_variant MELA-AU 18 59473212 59473212 single base substitution C T downstream_gene_variant MELA-AU 18 59473413 59473413 single base substitution C T downstream_gene_variant MELA-AU 18 59473545 59473545 single base substitution C T downstream_gene_variant MELA-AU 18 59473726 59473726 single base substitution T A downstream_gene_variant MELA-AU 18 59473795 59473795 single base substitution G A downstream_gene_variant MELA-AU 18 59473803 59473803 single base substitution G A downstream_gene_variant MELA-AU 18 59473832 59473832 single base substitution G A downstream_gene_variant MELA-AU 18 59473835 59473835 single base substitution C T downstream_gene_variant MELA-AU 18 59473917 59473917 single base substitution C T downstream_gene_variant MELA-AU 18 59473922 59473922 single base substitution G A downstream_gene_variant MELA-AU 18 59473986 59473986 single base substitution C T downstream_gene_variant MELA-AU 18 59474056 59474056 single base substitution G A downstream_gene_variant MELA-AU 18 59474064 59474064 single base substitution G A downstream_gene_variant MELA-AU 18 59474239 59474239 single base substitution G A downstream_gene_variant MELA-AU 18 59474315 59474315 single base substitution C T downstream_gene_variant MELA-AU 18 59474360 59474360 single base substitution C T downstream_gene_variant MELA-AU 18 59474474 59474474 single base substitution G A downstream_gene_variant MELA-AU 18 59474527 59474527 single base substitution C T downstream_gene_variant MELA-AU 18 59474530 59474530 single base substitution C T downstream_gene_variant MELA-AU 18 59474576 59474576 single base substitution G A downstream_gene_variant MELA-AU 18 59474630 59474630 single base substitution G A downstream_gene_variant MELA-AU 18 59474631 59474631 single base substitution G A downstream_gene_variant MELA-AU 18 59474684 59474685 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 18 59474715 59474715 single base substitution G A downstream_gene_variant MELA-AU 18 59474804 59474804 single base substitution G A downstream_gene_variant MELA-AU 18 59474809 59474809 single base substitution G A downstream_gene_variant MELA-AU 18 59474855 59474855 single base substitution C T downstream_gene_variant MELA-AU 18 59474880 59474880 single base substitution T A downstream_gene_variant MELA-AU 18 59474954 59474954 single base substitution G A downstream_gene_variant MELA-AU 18 59474999 59474999 single base substitution C T downstream_gene_variant MELA-AU 18 59475043 59475043 single base substitution G A downstream_gene_variant MELA-AU 18 59475064 59475064 single base substitution A C downstream_gene_variant MELA-AU 18 59475163 59475163 single base substitution C T downstream_gene_variant MELA-AU 18 59475259 59475259 single base substitution C T downstream_gene_variant MELA-AU 18 59475295 59475295 single base substitution G A downstream_gene_variant MELA-AU 18 59475352 59475352 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59475394 59475394 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59475531 59475531 single base substitution C G 3_prime_UTR_variant MELA-AU 18 59475532 59475532 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59475540 59475540 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59475783 59475783 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59475912 59475912 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59475936 59475936 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59475970 59475970 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59475998 59475998 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59476146 59476146 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59476147 59476147 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59476242 59476242 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59476296 59476296 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59476360 59476360 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59476376 59476376 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59476407 59476407 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59476448 59476448 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59476499 59476499 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59476510 59476510 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59476523 59476523 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59476529 59476529 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59476580 59476580 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59476627 59476627 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59476862 59476862 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59476903 59476903 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59476916 59476917 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 18 59476962 59476962 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59476970 59476970 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59477121 59477121 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59477175 59477175 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59477223 59477223 single base substitution A G 3_prime_UTR_variant MELA-AU 18 59477270 59477270 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59477402 59477403 multiple base substitution (>=2bp and <=200bp) TA AG 3_prime_UTR_variant MELA-AU 18 59477446 59477446 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59477483 59477483 single base substitution A C 3_prime_UTR_variant MELA-AU 18 59477502 59477502 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59477553 59477553 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59477658 59477658 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59477659 59477659 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59477854 59477854 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59477881 59477881 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59477910 59477910 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59477958 59477958 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59478224 59478224 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59478290 59478290 single base substitution A T 3_prime_UTR_variant MELA-AU 18 59478300 59478300 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59478327 59478327 single base substitution A T 3_prime_UTR_variant MELA-AU 18 59478383 59478383 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59478383 59478383 single base substitution G A downstream_gene_variant MELA-AU 18 59478414 59478414 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59478414 59478414 single base substitution G A downstream_gene_variant MELA-AU 18 59478415 59478415 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59478415 59478415 single base substitution G A downstream_gene_variant MELA-AU 18 59478472 59478472 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59478472 59478472 single base substitution G A downstream_gene_variant MELA-AU 18 59478546 59478546 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59478546 59478546 single base substitution G A downstream_gene_variant MELA-AU 18 59478576 59478576 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59478576 59478576 single base substitution C T downstream_gene_variant MELA-AU 18 59478636 59478636 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59478636 59478636 single base substitution C T downstream_gene_variant MELA-AU 18 59478726 59478726 single base substitution A G 3_prime_UTR_variant MELA-AU 18 59478726 59478726 single base substitution A G downstream_gene_variant MELA-AU 18 59478740 59478740 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59478740 59478740 single base substitution C T downstream_gene_variant MELA-AU 18 59478779 59478779 single base substitution C A 3_prime_UTR_variant MELA-AU 18 59478779 59478779 single base substitution C A downstream_gene_variant MELA-AU 18 59478825 59478825 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59478825 59478825 single base substitution C T downstream_gene_variant MELA-AU 18 59478867 59478867 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59478867 59478867 single base substitution C T downstream_gene_variant MELA-AU 18 59479212 59479212 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59479212 59479212 single base substitution G A downstream_gene_variant MELA-AU 18 59479260 59479260 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59479260 59479260 single base substitution G A downstream_gene_variant MELA-AU 18 59479271 59479271 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59479271 59479271 single base substitution C T downstream_gene_variant MELA-AU 18 59479380 59479380 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59479380 59479380 single base substitution C T downstream_gene_variant MELA-AU 18 59479429 59479429 single base substitution A T 3_prime_UTR_variant MELA-AU 18 59479429 59479429 single base substitution A T downstream_gene_variant MELA-AU 18 59479529 59479529 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59479529 59479529 single base substitution G A downstream_gene_variant MELA-AU 18 59479535 59479535 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59479535 59479535 single base substitution G A downstream_gene_variant MELA-AU 18 59479549 59479549 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59479549 59479549 single base substitution C T downstream_gene_variant MELA-AU 18 59479594 59479594 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59479594 59479594 single base substitution C T downstream_gene_variant MELA-AU 18 59479682 59479682 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59479682 59479682 single base substitution G A downstream_gene_variant MELA-AU 18 59479706 59479706 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59479706 59479706 single base substitution C T downstream_gene_variant MELA-AU 18 59479748 59479748 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59479748 59479748 single base substitution C T downstream_gene_variant MELA-AU 18 59479785 59479785 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59479785 59479785 single base substitution C T downstream_gene_variant MELA-AU 18 59479841 59479841 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59479841 59479841 single base substitution C T downstream_gene_variant MELA-AU 18 59479871 59479871 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59479871 59479871 single base substitution G A downstream_gene_variant MELA-AU 18 59479878 59479878 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59479878 59479878 single base substitution C T downstream_gene_variant MELA-AU 18 59480032 59480032 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59480032 59480032 single base substitution C T downstream_gene_variant MELA-AU 18 59480137 59480139 multiple base substitution (>=2bp and <=200bp) CAA AGC 3_prime_UTR_variant MELA-AU 18 59480137 59480139 multiple base substitution (>=2bp and <=200bp) CAA AGC downstream_gene_variant MELA-AU 18 59480188 59480188 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59480188 59480188 single base substitution G A downstream_gene_variant MELA-AU 18 59480210 59480210 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59480210 59480210 single base substitution G A downstream_gene_variant MELA-AU 18 59480658 59480658 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59480658 59480658 single base substitution C T downstream_gene_variant MELA-AU 18 59480674 59480674 single base substitution T A 3_prime_UTR_variant MELA-AU 18 59480674 59480674 single base substitution T A downstream_gene_variant MELA-AU 18 59480989 59480989 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59480989 59480989 single base substitution G A downstream_gene_variant MELA-AU 18 59481198 59481198 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59481198 59481198 single base substitution G A downstream_gene_variant MELA-AU 18 59481249 59481249 single base substitution A C 3_prime_UTR_variant MELA-AU 18 59481249 59481249 single base substitution A C downstream_gene_variant MELA-AU 18 59481362 59481362 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59481362 59481362 single base substitution C T downstream_gene_variant MELA-AU 18 59481482 59481482 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59481482 59481482 single base substitution C T downstream_gene_variant MELA-AU 18 59481713 59481713 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59481713 59481713 single base substitution G A downstream_gene_variant MELA-AU 18 59481721 59481721 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59481721 59481721 single base substitution C T downstream_gene_variant MELA-AU 18 59481763 59481763 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59481763 59481763 single base substitution C T downstream_gene_variant MELA-AU 18 59481797 59481797 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59481797 59481797 single base substitution G A downstream_gene_variant MELA-AU 18 59481825 59481825 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59481825 59481825 single base substitution G A downstream_gene_variant MELA-AU 18 59481904 59481904 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59481904 59481904 single base substitution G A downstream_gene_variant MELA-AU 18 59481946 59481946 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59481946 59481946 single base substitution C T downstream_gene_variant MELA-AU 18 59481987 59481987 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59481987 59481987 single base substitution C T downstream_gene_variant MELA-AU 18 59482013 59482013 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59482013 59482013 single base substitution C T downstream_gene_variant MELA-AU 18 59482091 59482091 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59482091 59482091 single base substitution G A downstream_gene_variant MELA-AU 18 59482108 59482108 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59482108 59482108 single base substitution G A downstream_gene_variant MELA-AU 18 59482163 59482163 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59482163 59482163 single base substitution C T downstream_gene_variant MELA-AU 18 59482354 59482354 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59482354 59482354 single base substitution G A downstream_gene_variant MELA-AU 18 59482384 59482384 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59482384 59482384 single base substitution G A downstream_gene_variant MELA-AU 18 59482405 59482405 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59482405 59482405 single base substitution C T downstream_gene_variant MELA-AU 18 59482414 59482414 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59482414 59482414 single base substitution C T downstream_gene_variant MELA-AU 18 59482658 59482658 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59482658 59482658 single base substitution G A downstream_gene_variant MELA-AU 18 59482675 59482675 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59482675 59482675 single base substitution C T downstream_gene_variant MELA-AU 18 59482688 59482688 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59482688 59482688 single base substitution C T downstream_gene_variant MELA-AU 18 59482811 59482811 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59482811 59482811 single base substitution C T downstream_gene_variant MELA-AU 18 59482901 59482901 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59482901 59482901 single base substitution G A downstream_gene_variant MELA-AU 18 59482914 59482914 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59482914 59482914 single base substitution G A downstream_gene_variant MELA-AU 18 59483020 59483020 single base substitution G A 3_prime_UTR_variant MELA-AU 18 59483020 59483020 single base substitution G A downstream_gene_variant MELA-AU 18 59483071 59483071 single base substitution C T 3_prime_UTR_variant MELA-AU 18 59483071 59483071 single base substitution C T downstream_gene_variant MELA-AU 18 59483285 59483285 single base substitution C T downstream_gene_variant MELA-AU 18 59483285 59483285 single base substitution C T missense_variant E138K 412G>A MELA-AU 18 59483343 59483343 single base substitution G A downstream_gene_variant MELA-AU 18 59483343 59483343 single base substitution G A synonymous_variant G118G 354C>T MELA-AU 18 59483414 59483414 single base substitution G A missense_variant P95S 283C>T MELA-AU 18 59483487 59483487 single base substitution C T synonymous_variant P70P 210G>A MELA-AU 18 59483582 59483582 single base substitution G A synonymous_variant L39L 115C>T MELA-AU 18 59483977 59483977 single base substitution C T intron_variant MELA-AU 18 59484197 59484197 single base substitution C T intron_variant MELA-AU 18 59484249 59484249 single base substitution C T intron_variant MELA-AU 18 59484406 59484406 single base substitution G A intron_variant MELA-AU 18 59484671 59484671 single base substitution G A intron_variant MELA-AU 18 59484777 59484777 single base substitution C T intron_variant MELA-AU 18 59484881 59484881 single base substitution G A intron_variant MELA-AU 18 59485009 59485009 single base substitution G A intron_variant MELA-AU 18 59485088 59485089 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 59485107 59485107 single base substitution C T intron_variant MELA-AU 18 59485175 59485175 single base substitution C T intron_variant MELA-AU 18 59485201 59485201 single base substitution C T intron_variant MELA-AU 18 59485247 59485247 single base substitution C T intron_variant MELA-AU 18 59485278 59485278 single base substitution C T intron_variant MELA-AU 18 59485290 59485290 single base substitution C T intron_variant MELA-AU 18 59485291 59485291 single base substitution C T intron_variant MELA-AU 18 59485297 59485297 single base substitution G A intron_variant MELA-AU 18 59485682 59485682 single base substitution A T intron_variant MELA-AU 18 59485719 59485719 single base substitution A C intron_variant MELA-AU 18 59485744 59485744 single base substitution G A intron_variant MELA-AU 18 59485754 59485754 single base substitution A C intron_variant MELA-AU 18 59485830 59485830 single base substitution G A intron_variant MELA-AU 18 59485836 59485836 single base substitution C T intron_variant MELA-AU 18 59485843 59485843 single base substitution G A intron_variant MELA-AU 18 59485951 59485951 single base substitution C T intron_variant MELA-AU 18 59485954 59485954 single base substitution G A intron_variant MELA-AU 18 59486030 59486030 single base substitution C T intron_variant MELA-AU 18 59486196 59486196 single base substitution G A intron_variant MELA-AU 18 59486197 59486197 single base substitution G A intron_variant MELA-AU 18 59486212 59486212 single base substitution T C intron_variant MELA-AU 18 59486223 59486223 single base substitution G A intron_variant MELA-AU 18 59486300 59486300 single base substitution G A intron_variant MELA-AU 18 59486311 59486311 single base substitution T A intron_variant MELA-AU 18 59486344 59486344 single base substitution G A intron_variant MELA-AU 18 59486405 59486405 single base substitution C T intron_variant MELA-AU 18 59486418 59486418 single base substitution G A intron_variant MELA-AU 18 59486499 59486499 single base substitution C T intron_variant MELA-AU 18 59486607 59486607 single base substitution G A intron_variant MELA-AU 18 59486743 59486743 single base substitution G A intron_variant MELA-AU 18 59486947 59486947 single base substitution G A intron_variant MELA-AU 18 59487033 59487033 single base substitution C T intron_variant MELA-AU 18 59487136 59487136 single base substitution C T intron_variant MELA-AU 18 59487280 59487280 single base substitution C T intron_variant MELA-AU 18 59487879 59487879 single base substitution C T intron_variant MELA-AU 18 59487986 59487986 single base substitution C T intron_variant MELA-AU 18 59488031 59488031 single base substitution C T intron_variant MELA-AU 18 59488059 59488059 single base substitution G A intron_variant MELA-AU 18 59488067 59488067 single base substitution G A intron_variant MELA-AU 18 59488506 59488506 single base substitution C T intron_variant MELA-AU 18 59488587 59488587 single base substitution G A intron_variant MELA-AU 18 59488636 59488636 single base substitution G A intron_variant MELA-AU 18 59488680 59488680 single base substitution G A intron_variant MELA-AU 18 59488806 59488806 single base substitution G A intron_variant MELA-AU 18 59488812 59488812 single base substitution C T intron_variant MELA-AU 18 59488819 59488819 single base substitution C T intron_variant MELA-AU 18 59488920 59488920 single base substitution G A intron_variant MELA-AU 18 59488944 59488944 single base substitution C T intron_variant MELA-AU 18 59489008 59489008 single base substitution G A intron_variant MELA-AU 18 59489080 59489080 single base substitution G A intron_variant MELA-AU 18 59489099 59489099 single base substitution G A intron_variant MELA-AU 18 59489102 59489102 single base substitution C T intron_variant MELA-AU 18 59489122 59489122 single base substitution C T intron_variant MELA-AU 18 59489147 59489147 single base substitution C T intron_variant MELA-AU 18 59489184 59489184 single base substitution C T intron_variant MELA-AU 18 59489240 59489240 single base substitution C T intron_variant MELA-AU 18 59489240 59489241 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 59489248 59489248 single base substitution G A intron_variant MELA-AU 18 59489446 59489446 single base substitution G A intron_variant MELA-AU 18 59489505 59489505 single base substitution C T intron_variant MELA-AU 18 59489545 59489545 single base substitution C G intron_variant MELA-AU 18 59489668 59489668 single base substitution C T intron_variant MELA-AU 18 59489776 59489776 single base substitution G A intron_variant MELA-AU 18 59489821 59489821 single base substitution C T intron_variant MELA-AU 18 59489923 59489923 single base substitution G A intron_variant MELA-AU 18 59490006 59490006 single base substitution G A intron_variant MELA-AU 18 59490008 59490009 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 59490445 59490445 single base substitution A T intron_variant MELA-AU 18 59490461 59490461 single base substitution C T intron_variant MELA-AU 18 59490465 59490465 single base substitution C T intron_variant MELA-AU 18 59490475 59490475 single base substitution C T intron_variant MELA-AU 18 59490516 59490516 single base substitution G A intron_variant MELA-AU 18 59490627 59490627 single base substitution C T intron_variant MELA-AU 18 59490728 59490728 single base substitution C T intron_variant MELA-AU 18 59490752 59490752 single base substitution G A intron_variant MELA-AU 18 59491267 59491267 single base substitution G T intron_variant MELA-AU 18 59491289 59491289 single base substitution G A intron_variant MELA-AU 18 59491296 59491296 single base substitution G A intron_variant MELA-AU 18 59491426 59491426 single base substitution G A intron_variant MELA-AU 18 59491859 59491859 single base substitution G A intron_variant MELA-AU 18 59491908 59491908 single base substitution A T intron_variant MELA-AU 18 59492118 59492118 single base substitution G A intron_variant MELA-AU 18 59492153 59492153 single base substitution G A intron_variant MELA-AU 18 59492158 59492158 single base substitution G A intron_variant MELA-AU 18 59492195 59492195 single base substitution G A intron_variant MELA-AU 18 59492209 59492209 single base substitution A T intron_variant MELA-AU 18 59492279 59492279 single base substitution G A intron_variant MELA-AU 18 59492402 59492402 single base substitution G A intron_variant MELA-AU 18 59492576 59492576 single base substitution G A intron_variant MELA-AU 18 59492606 59492606 single base substitution C T intron_variant MELA-AU 18 59492729 59492729 single base substitution C T intron_variant MELA-AU 18 59492769 59492769 single base substitution C T intron_variant MELA-AU 18 59492951 59492951 single base substitution G A intron_variant MELA-AU 18 59493131 59493131 single base substitution G A intron_variant MELA-AU 18 59493137 59493137 single base substitution T C intron_variant MELA-AU 18 59493159 59493159 single base substitution T A intron_variant MELA-AU 18 59493219 59493219 single base substitution G A intron_variant MELA-AU 18 59493322 59493322 single base substitution G A intron_variant MELA-AU 18 59493349 59493349 single base substitution G T intron_variant MELA-AU 18 59493358 59493358 single base substitution G A intron_variant MELA-AU 18 59493428 59493428 single base substitution G A intron_variant MELA-AU 18 59493536 59493536 single base substitution G A intron_variant MELA-AU 18 59493642 59493642 single base substitution C G intron_variant MELA-AU 18 59493765 59493765 single base substitution C T intron_variant MELA-AU 18 59493948 59493948 single base substitution C T intron_variant MELA-AU 18 59494006 59494006 single base substitution G A intron_variant MELA-AU 18 59494105 59494105 single base substitution G A intron_variant MELA-AU 18 59494152 59494152 single base substitution C T intron_variant MELA-AU 18 59494155 59494155 single base substitution G C intron_variant MELA-AU 18 59494229 59494229 single base substitution G A intron_variant MELA-AU 18 59494348 59494348 single base substitution C T intron_variant MELA-AU 18 59494362 59494362 single base substitution G A intron_variant MELA-AU 18 59494399 59494399 deletion of <=200bp T - intron_variant MELA-AU 18 59494409 59494409 single base substitution C T intron_variant MELA-AU 18 59494453 59494453 single base substitution C T intron_variant MELA-AU 18 59494521 59494521 single base substitution G A intron_variant MELA-AU 18 59494522 59494522 single base substitution G A intron_variant MELA-AU 18 59494594 59494594 single base substitution G A intron_variant MELA-AU 18 59494649 59494649 single base substitution G A intron_variant MELA-AU 18 59494755 59494755 single base substitution C T intron_variant MELA-AU 18 59495052 59495052 single base substitution C T intron_variant MELA-AU 18 59495219 59495219 single base substitution C T intron_variant MELA-AU 18 59495376 59495376 single base substitution G A intron_variant MELA-AU 18 59495473 59495473 single base substitution C T intron_variant MELA-AU 18 59495570 59495570 single base substitution G A intron_variant MELA-AU 18 59495769 59495769 single base substitution C T intron_variant MELA-AU 18 59495873 59495873 single base substitution G A intron_variant MELA-AU 18 59495921 59495921 single base substitution C T intron_variant MELA-AU 18 59495927 59495927 single base substitution A G intron_variant MELA-AU 18 59495932 59495932 single base substitution T C intron_variant MELA-AU 18 59495937 59495937 single base substitution C T intron_variant MELA-AU 18 59495944 59495944 single base substitution C T intron_variant MELA-AU 18 59495944 59495945 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 59496165 59496165 single base substitution G A intron_variant MELA-AU 18 59496202 59496202 single base substitution G A intron_variant MELA-AU 18 59496237 59496237 single base substitution G A intron_variant MELA-AU 18 59496277 59496277 single base substitution G A intron_variant MELA-AU 18 59496325 59496325 single base substitution G C intron_variant MELA-AU 18 59496380 59496380 single base substitution C T intron_variant MELA-AU 18 59496437 59496437 single base substitution G A intron_variant MELA-AU 18 59496523 59496523 single base substitution C T intron_variant MELA-AU 18 59496525 59496525 single base substitution C T intron_variant MELA-AU 18 59496546 59496546 single base substitution C T intron_variant MELA-AU 18 59496576 59496576 single base substitution G A intron_variant MELA-AU 18 59496582 59496582 single base substitution A G intron_variant MELA-AU 18 59496619 59496620 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 59496648 59496648 single base substitution C T intron_variant MELA-AU 18 59496720 59496720 single base substitution G A intron_variant MELA-AU 18 59496890 59496890 single base substitution G A intron_variant MELA-AU 18 59496893 59496894 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 59496962 59496962 single base substitution C T intron_variant MELA-AU 18 59497158 59497158 single base substitution T A intron_variant MELA-AU 18 59497422 59497422 single base substitution A T intron_variant MELA-AU 18 59497510 59497510 single base substitution C T intron_variant MELA-AU 18 59497554 59497554 single base substitution C T intron_variant MELA-AU 18 59497619 59497619 single base substitution C T intron_variant MELA-AU 18 59497669 59497669 single base substitution G A intron_variant MELA-AU 18 59497757 59497757 single base substitution C T intron_variant MELA-AU 18 59497876 59497876 single base substitution G A intron_variant MELA-AU 18 59497907 59497907 single base substitution G A intron_variant MELA-AU 18 59497936 59497936 single base substitution G A intron_variant MELA-AU 18 59497950 59497950 single base substitution G A intron_variant MELA-AU 18 59497957 59497957 single base substitution G A intron_variant MELA-AU 18 59498011 59498011 single base substitution G A intron_variant MELA-AU 18 59498247 59498247 single base substitution T A intron_variant MELA-AU 18 59498275 59498275 single base substitution C T intron_variant MELA-AU 18 59498327 59498327 single base substitution C T intron_variant MELA-AU 18 59498488 59498488 single base substitution C T intron_variant MELA-AU 18 59498504 59498504 single base substitution C A intron_variant MELA-AU 18 59498765 59498765 single base substitution G A intron_variant MELA-AU 18 59498880 59498880 single base substitution C T intron_variant MELA-AU 18 59499262 59499262 single base substitution C T intron_variant MELA-AU 18 59499272 59499272 single base substitution G A intron_variant MELA-AU 18 59499335 59499335 single base substitution G A intron_variant MELA-AU 18 59499462 59499462 single base substitution C T intron_variant MELA-AU 18 59499632 59499632 single base substitution C T intron_variant MELA-AU 18 59499822 59499822 single base substitution T G intron_variant MELA-AU 18 59499946 59499946 single base substitution C T intron_variant MELA-AU 18 59499986 59499986 single base substitution G A intron_variant MELA-AU 18 59500188 59500188 single base substitution G A intron_variant MELA-AU 18 59500189 59500189 single base substitution G A intron_variant MELA-AU 18 59500298 59500298 single base substitution C T intron_variant MELA-AU 18 59500450 59500450 single base substitution C T intron_variant MELA-AU 18 59500517 59500517 single base substitution T A intron_variant MELA-AU 18 59500751 59500751 single base substitution C T intron_variant MELA-AU 18 59500808 59500808 single base substitution C T intron_variant MELA-AU 18 59500948 59500948 single base substitution C T intron_variant MELA-AU 18 59501114 59501114 single base substitution C T intron_variant MELA-AU 18 59501135 59501135 single base substitution C T intron_variant MELA-AU 18 59501230 59501230 single base substitution C T intron_variant MELA-AU 18 59501503 59501503 single base substitution C T intron_variant MELA-AU 18 59501631 59501631 single base substitution G A intron_variant MELA-AU 18 59501635 59501635 single base substitution C T intron_variant MELA-AU 18 59501672 59501672 single base substitution C T intron_variant MELA-AU 18 59501701 59501701 single base substitution G A intron_variant MELA-AU 18 59501804 59501804 single base substitution G A intron_variant MELA-AU 18 59501824 59501824 single base substitution C T intron_variant MELA-AU 18 59501890 59501890 single base substitution G A intron_variant MELA-AU 18 59501901 59501901 single base substitution G A intron_variant MELA-AU 18 59501913 59501913 deletion of <=200bp T - intron_variant MELA-AU 18 59501969 59501969 single base substitution C T intron_variant MELA-AU 18 59502120 59502120 single base substitution C T intron_variant MELA-AU 18 59502212 59502212 single base substitution C T intron_variant MELA-AU 18 59502482 59502482 single base substitution G A intron_variant MELA-AU 18 59502489 59502489 single base substitution A G intron_variant MELA-AU 18 59502498 59502498 single base substitution C T intron_variant MELA-AU 18 59502505 59502505 single base substitution A T intron_variant MELA-AU 18 59502693 59502693 single base substitution C T intron_variant MELA-AU 18 59502723 59502723 single base substitution T C intron_variant MELA-AU 18 59502755 59502755 single base substitution G A intron_variant MELA-AU 18 59502903 59502903 single base substitution G A intron_variant MELA-AU 18 59503072 59503072 single base substitution G A intron_variant MELA-AU 18 59503103 59503103 single base substitution C A intron_variant MELA-AU 18 59503115 59503115 single base substitution C T intron_variant MELA-AU 18 59503131 59503131 single base substitution G A intron_variant MELA-AU 18 59503417 59503417 single base substitution G A intron_variant MELA-AU 18 59503423 59503423 single base substitution G A intron_variant MELA-AU 18 59503551 59503551 single base substitution A T intron_variant MELA-AU 18 59503592 59503592 single base substitution C T intron_variant MELA-AU 18 59503774 59503774 single base substitution C T intron_variant MELA-AU 18 59504000 59504000 single base substitution G A intron_variant MELA-AU 18 59504020 59504020 single base substitution G A intron_variant MELA-AU 18 59504023 59504023 single base substitution G A intron_variant MELA-AU 18 59504036 59504036 single base substitution G A intron_variant MELA-AU 18 59504125 59504125 single base substitution C T intron_variant MELA-AU 18 59504168 59504168 single base substitution G A intron_variant MELA-AU 18 59504294 59504294 single base substitution C T intron_variant MELA-AU 18 59504301 59504301 single base substitution C T intron_variant MELA-AU 18 59504309 59504309 single base substitution G A intron_variant MELA-AU 18 59504317 59504317 single base substitution G A intron_variant MELA-AU 18 59504447 59504447 single base substitution G A intron_variant MELA-AU 18 59504463 59504463 single base substitution G A intron_variant MELA-AU 18 59504492 59504492 single base substitution G A intron_variant MELA-AU 18 59504519 59504519 single base substitution G A intron_variant MELA-AU 18 59504549 59504549 single base substitution G A intron_variant MELA-AU 18 59504586 59504586 single base substitution G A intron_variant MELA-AU 18 59504608 59504608 single base substitution G A intron_variant MELA-AU 18 59504644 59504644 single base substitution G A intron_variant MELA-AU 18 59504866 59504866 single base substitution C T intron_variant MELA-AU 18 59505014 59505014 single base substitution C T intron_variant MELA-AU 18 59505072 59505072 single base substitution C T intron_variant MELA-AU 18 59505131 59505131 single base substitution G A intron_variant MELA-AU 18 59505172 59505172 single base substitution C T intron_variant MELA-AU 18 59505320 59505320 single base substitution C T intron_variant MELA-AU 18 59505325 59505325 single base substitution C T intron_variant MELA-AU 18 59505327 59505327 single base substitution C T intron_variant MELA-AU 18 59505350 59505350 single base substitution G A intron_variant MELA-AU 18 59505359 59505359 single base substitution C T intron_variant MELA-AU 18 59505699 59505699 single base substitution C T intron_variant MELA-AU 18 59505718 59505718 single base substitution G A intron_variant MELA-AU 18 59505728 59505728 single base substitution G A intron_variant MELA-AU 18 59505743 59505743 single base substitution G A intron_variant MELA-AU 18 59505782 59505782 single base substitution C T intron_variant MELA-AU 18 59505890 59505890 single base substitution G A intron_variant MELA-AU 18 59505924 59505924 single base substitution G A intron_variant MELA-AU 18 59505936 59505936 single base substitution G A intron_variant MELA-AU 18 59505967 59505967 single base substitution C T intron_variant MELA-AU 18 59506134 59506134 single base substitution C T intron_variant MELA-AU 18 59506157 59506157 single base substitution C T intron_variant MELA-AU 18 59506296 59506296 single base substitution A T intron_variant MELA-AU 18 59506343 59506343 single base substitution A G intron_variant MELA-AU 18 59506493 59506493 single base substitution G A intron_variant MELA-AU 18 59506534 59506534 single base substitution C T intron_variant MELA-AU 18 59506569 59506570 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 18 59506638 59506638 single base substitution C T intron_variant MELA-AU 18 59506671 59506671 single base substitution G A intron_variant MELA-AU 18 59506695 59506695 single base substitution T C intron_variant MELA-AU 18 59506715 59506715 single base substitution G A intron_variant MELA-AU 18 59506925 59506925 single base substitution G A intron_variant MELA-AU 18 59506953 59506953 single base substitution C T intron_variant MELA-AU 18 59506958 59506958 single base substitution C T intron_variant MELA-AU 18 59506965 59506965 single base substitution A G intron_variant MELA-AU 18 59507011 59507011 single base substitution C T intron_variant MELA-AU 18 59507021 59507021 single base substitution G T intron_variant MELA-AU 18 59507054 59507054 single base substitution G A intron_variant MELA-AU 18 59507082 59507082 single base substitution C T intron_variant MELA-AU 18 59507106 59507106 single base substitution C T intron_variant MELA-AU 18 59507144 59507144 single base substitution G A intron_variant MELA-AU 18 59507156 59507156 single base substitution C T intron_variant MELA-AU 18 59507174 59507174 single base substitution C T intron_variant MELA-AU 18 59507204 59507204 single base substitution C T intron_variant MELA-AU 18 59507210 59507210 single base substitution G A intron_variant MELA-AU 18 59507291 59507291 single base substitution C T intron_variant MELA-AU 18 59507418 59507418 single base substitution G A intron_variant MELA-AU 18 59507465 59507465 single base substitution C T intron_variant MELA-AU 18 59507578 59507578 single base substitution G A intron_variant MELA-AU 18 59507738 59507738 single base substitution G A intron_variant MELA-AU 18 59507876 59507876 single base substitution C T intron_variant MELA-AU 18 59507877 59507877 single base substitution C T intron_variant MELA-AU 18 59507887 59507887 single base substitution C T intron_variant MELA-AU 18 59507957 59507957 single base substitution G A intron_variant MELA-AU 18 59508024 59508024 single base substitution G A intron_variant MELA-AU 18 59508045 59508045 single base substitution C T intron_variant MELA-AU 18 59508106 59508106 single base substitution C T intron_variant MELA-AU 18 59508128 59508128 single base substitution G A intron_variant MELA-AU 18 59508248 59508248 single base substitution C T intron_variant MELA-AU 18 59508304 59508304 single base substitution G A intron_variant MELA-AU 18 59508360 59508360 single base substitution C T intron_variant MELA-AU 18 59508383 59508383 single base substitution C T intron_variant MELA-AU 18 59508393 59508393 single base substitution C T intron_variant MELA-AU 18 59508439 59508439 single base substitution G A intron_variant MELA-AU 18 59508444 59508444 single base substitution C T intron_variant MELA-AU 18 59508485 59508485 single base substitution G A intron_variant MELA-AU 18 59508516 59508517 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 59508597 59508597 single base substitution G A intron_variant MELA-AU 18 59508815 59508815 single base substitution G A intron_variant MELA-AU 18 59508837 59508837 single base substitution G A intron_variant MELA-AU 18 59508848 59508848 single base substitution G A intron_variant MELA-AU 18 59509146 59509146 single base substitution C T intron_variant MELA-AU 18 59509274 59509274 single base substitution C T intron_variant MELA-AU 18 59509283 59509283 single base substitution G A intron_variant MELA-AU 18 59509426 59509426 single base substitution C T intron_variant MELA-AU 18 59509532 59509532 single base substitution G A intron_variant MELA-AU 18 59509716 59509716 single base substitution C T intron_variant MELA-AU 18 59509733 59509733 single base substitution C T intron_variant MELA-AU 18 59509935 59509935 single base substitution C T intron_variant MELA-AU 18 59509960 59509960 single base substitution C T intron_variant MELA-AU 18 59510070 59510070 single base substitution C T intron_variant MELA-AU 18 59510155 59510155 single base substitution G A intron_variant MELA-AU 18 59510174 59510174 single base substitution G A intron_variant MELA-AU 18 59510295 59510295 single base substitution C T intron_variant MELA-AU 18 59510363 59510363 single base substitution G A intron_variant MELA-AU 18 59510390 59510390 single base substitution G A intron_variant MELA-AU 18 59510469 59510469 single base substitution C T intron_variant MELA-AU 18 59510567 59510567 single base substitution G A intron_variant MELA-AU 18 59510630 59510630 single base substitution C T intron_variant MELA-AU 18 59510853 59510853 single base substitution C T intron_variant MELA-AU 18 59510866 59510866 single base substitution G A intron_variant MELA-AU 18 59510871 59510871 single base substitution T G intron_variant MELA-AU 18 59510953 59510953 single base substitution G A intron_variant MELA-AU 18 59510958 59510958 single base substitution C T intron_variant MELA-AU 18 59511060 59511060 single base substitution G A intron_variant MELA-AU 18 59511109 59511109 single base substitution G A intron_variant MELA-AU 18 59511152 59511152 single base substitution G A intron_variant MELA-AU 18 59511241 59511241 single base substitution G A intron_variant MELA-AU 18 59511300 59511300 single base substitution C A intron_variant MELA-AU 18 59511311 59511311 single base substitution G A intron_variant MELA-AU 18 59511442 59511442 single base substitution A T intron_variant MELA-AU 18 59511466 59511466 single base substitution G A intron_variant MELA-AU 18 59511656 59511656 single base substitution C T intron_variant MELA-AU 18 59512050 59512050 single base substitution C T intron_variant MELA-AU 18 59512107 59512107 single base substitution A C intron_variant MELA-AU 18 59512116 59512116 single base substitution G A intron_variant MELA-AU 18 59512183 59512183 single base substitution C T intron_variant MELA-AU 18 59512559 59512559 single base substitution C T intron_variant MELA-AU 18 59512609 59512609 single base substitution C T intron_variant MELA-AU 18 59512696 59512696 single base substitution G A intron_variant MELA-AU 18 59512697 59512697 single base substitution G A intron_variant MELA-AU 18 59512972 59512972 single base substitution A T intron_variant MELA-AU 18 59513360 59513360 single base substitution T C intron_variant MELA-AU 18 59513434 59513434 single base substitution C T intron_variant MELA-AU 18 59513481 59513481 single base substitution C T intron_variant MELA-AU 18 59513505 59513505 single base substitution C T intron_variant MELA-AU 18 59513644 59513644 single base substitution A G intron_variant MELA-AU 18 59513646 59513646 single base substitution C T intron_variant MELA-AU 18 59513783 59513783 single base substitution C T intron_variant MELA-AU 18 59513802 59513802 single base substitution C T intron_variant MELA-AU 18 59513805 59513805 single base substitution T C intron_variant MELA-AU 18 59513817 59513817 single base substitution C G intron_variant MELA-AU 18 59513822 59513822 single base substitution C T intron_variant MELA-AU 18 59513866 59513866 single base substitution C T intron_variant MELA-AU 18 59513939 59513939 single base substitution G A intron_variant MELA-AU 18 59514090 59514091 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 59514123 59514123 single base substitution G A intron_variant MELA-AU 18 59514182 59514182 single base substitution C T intron_variant MELA-AU 18 59514213 59514213 single base substitution G A intron_variant MELA-AU 18 59514327 59514327 single base substitution C T intron_variant MELA-AU 18 59514328 59514328 single base substitution C T intron_variant MELA-AU 18 59514618 59514618 single base substitution G A intron_variant MELA-AU 18 59514639 59514639 single base substitution G A intron_variant MELA-AU 18 59514729 59514729 single base substitution G A intron_variant MELA-AU 18 59514896 59514896 single base substitution A G intron_variant MELA-AU 18 59514910 59514910 single base substitution G A intron_variant MELA-AU 18 59514967 59514967 single base substitution C T intron_variant MELA-AU 18 59515033 59515033 single base substitution C T intron_variant MELA-AU 18 59515112 59515112 single base substitution C T intron_variant MELA-AU 18 59515204 59515204 single base substitution C T intron_variant MELA-AU 18 59515294 59515294 single base substitution C T intron_variant MELA-AU 18 59515322 59515322 single base substitution C T intron_variant MELA-AU 18 59515338 59515338 single base substitution C T intron_variant MELA-AU 18 59515542 59515542 single base substitution G A intron_variant MELA-AU 18 59515566 59515566 single base substitution C T intron_variant MELA-AU 18 59515604 59515604 single base substitution C T intron_variant MELA-AU 18 59515647 59515647 single base substitution A T intron_variant MELA-AU 18 59515690 59515690 single base substitution C T intron_variant MELA-AU 18 59515693 59515693 single base substitution C T intron_variant MELA-AU 18 59515780 59515780 single base substitution G A intron_variant MELA-AU 18 59515794 59515794 single base substitution C T intron_variant MELA-AU 18 59515829 59515829 single base substitution G A intron_variant MELA-AU 18 59516014 59516014 single base substitution G A intron_variant MELA-AU 18 59516230 59516230 single base substitution G A intron_variant MELA-AU 18 59516236 59516236 single base substitution G A intron_variant MELA-AU 18 59516237 59516237 single base substitution G A intron_variant MELA-AU 18 59516241 59516241 single base substitution G A intron_variant MELA-AU 18 59516299 59516299 single base substitution C T intron_variant MELA-AU 18 59516375 59516375 single base substitution G A intron_variant MELA-AU 18 59516386 59516386 single base substitution G A intron_variant MELA-AU 18 59516470 59516470 single base substitution C T intron_variant MELA-AU 18 59516520 59516520 single base substitution G A intron_variant MELA-AU 18 59516528 59516528 single base substitution C T intron_variant MELA-AU 18 59516575 59516575 single base substitution G A intron_variant MELA-AU 18 59516576 59516576 single base substitution A T intron_variant MELA-AU 18 59516579 59516579 single base substitution T G intron_variant MELA-AU 18 59516582 59516582 single base substitution C T intron_variant MELA-AU 18 59516585 59516585 single base substitution G C intron_variant MELA-AU 18 59516616 59516616 single base substitution C T intron_variant MELA-AU 18 59516729 59516729 single base substitution G A intron_variant MELA-AU 18 59516739 59516739 single base substitution G A intron_variant MELA-AU 18 59516844 59516844 single base substitution A G intron_variant MELA-AU 18 59516921 59516921 single base substitution G A intron_variant MELA-AU 18 59516925 59516925 single base substitution G A intron_variant MELA-AU 18 59517020 59517020 single base substitution G A intron_variant MELA-AU 18 59517070 59517070 single base substitution G A intron_variant MELA-AU 18 59517242 59517242 single base substitution G A intron_variant MELA-AU 18 59517243 59517243 single base substitution G A intron_variant MELA-AU 18 59517299 59517299 single base substitution C T intron_variant MELA-AU 18 59517482 59517482 single base substitution G A intron_variant MELA-AU 18 59517529 59517530 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 59517727 59517727 single base substitution A G intron_variant MELA-AU 18 59517835 59517835 single base substitution A C intron_variant MELA-AU 18 59518014 59518014 single base substitution G A intron_variant MELA-AU 18 59518020 59518020 single base substitution G A intron_variant MELA-AU 18 59518189 59518189 single base substitution C T intron_variant MELA-AU 18 59518476 59518476 single base substitution T A intron_variant MELA-AU 18 59518528 59518528 single base substitution C T intron_variant MELA-AU 18 59518573 59518573 single base substitution C T intron_variant MELA-AU 18 59518615 59518615 single base substitution G A intron_variant MELA-AU 18 59518656 59518656 single base substitution C T intron_variant MELA-AU 18 59518808 59518808 single base substitution A C intron_variant MELA-AU 18 59519042 59519042 single base substitution G A intron_variant MELA-AU 18 59519158 59519158 single base substitution G A intron_variant MELA-AU 18 59519163 59519163 single base substitution C A intron_variant MELA-AU 18 59519180 59519180 single base substitution G A intron_variant MELA-AU 18 59519212 59519212 single base substitution C T intron_variant MELA-AU 18 59519410 59519410 single base substitution G A intron_variant MELA-AU 18 59519661 59519661 single base substitution C T intron_variant MELA-AU 18 59519672 59519672 single base substitution C T intron_variant MELA-AU 18 59520088 59520088 single base substitution G A intron_variant MELA-AU 18 59520471 59520471 single base substitution G T intron_variant MELA-AU 18 59520498 59520499 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 59520586 59520586 single base substitution G A intron_variant MELA-AU 18 59520763 59520763 single base substitution G A intron_variant MELA-AU 18 59520992 59520992 single base substitution C T intron_variant MELA-AU 18 59521044 59521044 single base substitution C T intron_variant MELA-AU 18 59521252 59521252 single base substitution G A intron_variant MELA-AU 18 59521255 59521255 single base substitution C T intron_variant MELA-AU 18 59521256 59521256 single base substitution C T intron_variant MELA-AU 18 59521312 59521312 single base substitution C A intron_variant MELA-AU 18 59521336 59521336 single base substitution C T intron_variant MELA-AU 18 59521338 59521338 single base substitution C T intron_variant MELA-AU 18 59521400 59521400 single base substitution G A intron_variant MELA-AU 18 59521457 59521457 single base substitution G A intron_variant MELA-AU 18 59521509 59521509 single base substitution G A intron_variant MELA-AU 18 59521519 59521519 single base substitution C T intron_variant MELA-AU 18 59521582 59521582 single base substitution G A intron_variant MELA-AU 18 59521621 59521621 single base substitution C T intron_variant MELA-AU 18 59521786 59521786 single base substitution G A intron_variant MELA-AU 18 59521844 59521844 single base substitution G A intron_variant MELA-AU 18 59522037 59522037 single base substitution C T intron_variant MELA-AU 18 59522049 59522049 single base substitution T C intron_variant MELA-AU 18 59522244 59522244 single base substitution A G intron_variant MELA-AU 18 59522683 59522683 single base substitution C T intron_variant MELA-AU 18 59522822 59522822 single base substitution C T intron_variant MELA-AU 18 59522863 59522863 single base substitution C T intron_variant MELA-AU 18 59523001 59523001 single base substitution G A intron_variant MELA-AU 18 59523012 59523012 single base substitution C A intron_variant MELA-AU 18 59523264 59523264 single base substitution C T intron_variant MELA-AU 18 59523342 59523342 single base substitution C T intron_variant MELA-AU 18 59523353 59523353 single base substitution C T intron_variant MELA-AU 18 59523451 59523451 single base substitution G A intron_variant MELA-AU 18 59523482 59523482 single base substitution G A intron_variant MELA-AU 18 59523529 59523529 single base substitution G A intron_variant MELA-AU 18 59523608 59523608 single base substitution G A intron_variant MELA-AU 18 59523634 59523634 single base substitution C T intron_variant MELA-AU 18 59523650 59523650 single base substitution A T intron_variant MELA-AU 18 59523697 59523697 single base substitution G A intron_variant MELA-AU 18 59523802 59523802 single base substitution G A intron_variant MELA-AU 18 59523873 59523873 single base substitution C T intron_variant MELA-AU 18 59523893 59523893 single base substitution G A intron_variant MELA-AU 18 59523999 59523999 single base substitution C T intron_variant MELA-AU 18 59524013 59524013 single base substitution C T intron_variant MELA-AU 18 59524029 59524029 single base substitution C T intron_variant MELA-AU 18 59524198 59524198 single base substitution C T intron_variant MELA-AU 18 59524214 59524214 single base substitution G A intron_variant MELA-AU 18 59524260 59524260 single base substitution G A intron_variant MELA-AU 18 59524377 59524377 single base substitution C T intron_variant MELA-AU 18 59524439 59524439 single base substitution G A intron_variant MELA-AU 18 59524439 59524440 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 59524492 59524492 single base substitution G A intron_variant MELA-AU 18 59524519 59524519 single base substitution T A intron_variant MELA-AU 18 59524690 59524690 single base substitution C T intron_variant MELA-AU 18 59524755 59524755 single base substitution G A intron_variant MELA-AU 18 59524777 59524777 single base substitution C T intron_variant MELA-AU 18 59524820 59524820 single base substitution C T intron_variant MELA-AU 18 59524849 59524849 single base substitution C T intron_variant MELA-AU 18 59524863 59524863 single base substitution G A intron_variant MELA-AU 18 59525284 59525284 single base substitution G A intron_variant MELA-AU 18 59525310 59525310 single base substitution C T intron_variant MELA-AU 18 59525419 59525419 single base substitution C T intron_variant MELA-AU 18 59525422 59525422 single base substitution C T intron_variant MELA-AU 18 59525519 59525519 single base substitution C T intron_variant MELA-AU 18 59525582 59525582 single base substitution G A intron_variant MELA-AU 18 59525641 59525641 single base substitution C T intron_variant MELA-AU 18 59525731 59525731 single base substitution C A intron_variant MELA-AU 18 59525739 59525739 single base substitution A T intron_variant MELA-AU 18 59526047 59526047 single base substitution G A intron_variant MELA-AU 18 59526061 59526061 single base substitution C T intron_variant MELA-AU 18 59526085 59526085 single base substitution C T intron_variant MELA-AU 18 59526208 59526208 single base substitution C T intron_variant MELA-AU 18 59526253 59526253 single base substitution G A intron_variant MELA-AU 18 59526463 59526463 single base substitution A T intron_variant MELA-AU 18 59526465 59526465 single base substitution G A intron_variant MELA-AU 18 59526511 59526511 single base substitution G A intron_variant MELA-AU 18 59526534 59526534 single base substitution G A intron_variant MELA-AU 18 59526596 59526596 single base substitution C T intron_variant MELA-AU 18 59526672 59526672 single base substitution G A intron_variant MELA-AU 18 59526874 59526874 single base substitution G A intron_variant MELA-AU 18 59526904 59526904 single base substitution G A intron_variant MELA-AU 18 59527039 59527039 single base substitution G A intron_variant MELA-AU 18 59527061 59527061 single base substitution G A intron_variant MELA-AU 18 59527128 59527128 single base substitution G A intron_variant MELA-AU 18 59527143 59527143 single base substitution C T intron_variant MELA-AU 18 59527407 59527407 single base substitution G A intron_variant MELA-AU 18 59527508 59527508 single base substitution G A intron_variant MELA-AU 18 59527703 59527703 single base substitution C T intron_variant MELA-AU 18 59527993 59527993 single base substitution G A intron_variant MELA-AU 18 59528146 59528146 single base substitution G A intron_variant MELA-AU 18 59528326 59528326 single base substitution T A intron_variant MELA-AU 18 59528548 59528548 single base substitution C T intron_variant MELA-AU 18 59528952 59528952 single base substitution T C intron_variant MELA-AU 18 59529038 59529038 single base substitution A G intron_variant MELA-AU 18 59529064 59529064 single base substitution G T intron_variant MELA-AU 18 59529146 59529146 single base substitution G A intron_variant MELA-AU 18 59529265 59529265 single base substitution C T intron_variant MELA-AU 18 59529265 59529266 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 18 59529266 59529266 single base substitution C T intron_variant MELA-AU 18 59529278 59529278 single base substitution A T intron_variant MELA-AU 18 59529289 59529289 single base substitution C T intron_variant MELA-AU 18 59529294 59529294 single base substitution C T intron_variant MELA-AU 18 59529295 59529295 single base substitution C T intron_variant MELA-AU 18 59529481 59529481 single base substitution C T intron_variant MELA-AU 18 59529543 59529543 single base substitution C T intron_variant MELA-AU 18 59529556 59529556 single base substitution C T intron_variant MELA-AU 18 59529626 59529626 single base substitution A G intron_variant MELA-AU 18 59529680 59529680 single base substitution G A intron_variant MELA-AU 18 59529688 59529688 single base substitution G A intron_variant MELA-AU 18 59529727 59529727 single base substitution G A intron_variant MELA-AU 18 59529780 59529780 single base substitution A T intron_variant MELA-AU 18 59529874 59529874 single base substitution C T intron_variant MELA-AU 18 59529922 59529922 single base substitution C T intron_variant MELA-AU 18 59529958 59529958 single base substitution A G intron_variant MELA-AU 18 59530252 59530252 single base substitution C T intron_variant MELA-AU 18 59530390 59530390 single base substitution C T intron_variant MELA-AU 18 59530561 59530561 single base substitution G A intron_variant MELA-AU 18 59530594 59530594 single base substitution G A intron_variant MELA-AU 18 59530595 59530595 single base substitution G A intron_variant MELA-AU 18 59530619 59530619 single base substitution G A intron_variant MELA-AU 18 59530622 59530622 single base substitution C T intron_variant MELA-AU 18 59530811 59530811 single base substitution C T intron_variant MELA-AU 18 59531023 59531023 single base substitution C T intron_variant MELA-AU 18 59531082 59531082 single base substitution C T intron_variant MELA-AU 18 59531128 59531128 single base substitution G A intron_variant MELA-AU 18 59531258 59531258 single base substitution A T intron_variant MELA-AU 18 59531468 59531468 single base substitution G A intron_variant MELA-AU 18 59531701 59531701 single base substitution G A intron_variant MELA-AU 18 59531725 59531725 single base substitution C T intron_variant MELA-AU 18 59531796 59531796 single base substitution C T intron_variant MELA-AU 18 59531797 59531797 single base substitution G A intron_variant MELA-AU 18 59531805 59531805 single base substitution C T intron_variant MELA-AU 18 59531862 59531862 single base substitution G A intron_variant MELA-AU 18 59531991 59531991 single base substitution G A intron_variant MELA-AU 18 59532017 59532017 single base substitution C T intron_variant MELA-AU 18 59532052 59532052 single base substitution G A intron_variant MELA-AU 18 59532172 59532172 single base substitution G A intron_variant MELA-AU 18 59532313 59532313 single base substitution G A intron_variant MELA-AU 18 59532314 59532314 single base substitution G A intron_variant MELA-AU 18 59532410 59532410 single base substitution A G intron_variant MELA-AU 18 59532459 59532459 single base substitution C T intron_variant MELA-AU 18 59532906 59532906 single base substitution C T intron_variant MELA-AU 18 59532912 59532912 single base substitution G A intron_variant MELA-AU 18 59533019 59533019 single base substitution C T intron_variant MELA-AU 18 59533100 59533100 single base substitution G A intron_variant MELA-AU 18 59533141 59533141 single base substitution C G intron_variant MELA-AU 18 59533222 59533222 single base substitution T G intron_variant MELA-AU 18 59533309 59533309 single base substitution G A intron_variant MELA-AU 18 59533342 59533342 single base substitution G A intron_variant MELA-AU 18 59533541 59533541 single base substitution G A intron_variant MELA-AU 18 59533572 59533572 single base substitution G A intron_variant MELA-AU 18 59533737 59533737 single base substitution C T intron_variant MELA-AU 18 59533814 59533814 single base substitution C T intron_variant MELA-AU 18 59533902 59533902 single base substitution C T intron_variant MELA-AU 18 59534016 59534016 single base substitution C T intron_variant MELA-AU 18 59534103 59534103 single base substitution C T intron_variant MELA-AU 18 59534364 59534364 single base substitution G A intron_variant MELA-AU 18 59534636 59534636 single base substitution G T intron_variant MELA-AU 18 59534824 59534824 single base substitution G A intron_variant MELA-AU 18 59534828 59534828 single base substitution G A intron_variant MELA-AU 18 59534875 59534875 single base substitution G A intron_variant MELA-AU 18 59534932 59534932 single base substitution G A intron_variant MELA-AU 18 59535069 59535069 single base substitution G A intron_variant MELA-AU 18 59535075 59535075 single base substitution G A intron_variant MELA-AU 18 59535258 59535258 single base substitution G A intron_variant MELA-AU 18 59535299 59535299 single base substitution G A intron_variant MELA-AU 18 59535763 59535763 single base substitution C T intron_variant MELA-AU 18 59535839 59535839 single base substitution G A intron_variant MELA-AU 18 59535873 59535873 single base substitution T C intron_variant MELA-AU 18 59536012 59536012 single base substitution G A intron_variant MELA-AU 18 59536067 59536067 single base substitution G A intron_variant MELA-AU 18 59536197 59536197 single base substitution G A intron_variant MELA-AU 18 59536213 59536213 single base substitution G A intron_variant MELA-AU 18 59536231 59536231 single base substitution G A intron_variant MELA-AU 18 59536285 59536285 single base substitution G A intron_variant MELA-AU 18 59536343 59536343 single base substitution C T intron_variant MELA-AU 18 59536400 59536400 single base substitution A G intron_variant MELA-AU 18 59536439 59536439 single base substitution G A intron_variant MELA-AU 18 59536467 59536467 single base substitution C T intron_variant MELA-AU 18 59536578 59536578 single base substitution C T intron_variant MELA-AU 18 59536620 59536620 single base substitution A T intron_variant MELA-AU 18 59536696 59536696 single base substitution C T intron_variant MELA-AU 18 59536748 59536748 single base substitution G A intron_variant MELA-AU 18 59536913 59536913 single base substitution G A intron_variant MELA-AU 18 59537052 59537052 single base substitution C T intron_variant MELA-AU 18 59537160 59537160 single base substitution G A intron_variant MELA-AU 18 59537253 59537253 single base substitution G A downstream_gene_variant MELA-AU 18 59537253 59537253 single base substitution G A intron_variant MELA-AU 18 59537356 59537356 single base substitution G A downstream_gene_variant MELA-AU 18 59537356 59537356 single base substitution G A intron_variant MELA-AU 18 59537427 59537427 single base substitution G A downstream_gene_variant MELA-AU 18 59537427 59537427 single base substitution G A intron_variant MELA-AU 18 59537518 59537518 single base substitution G A downstream_gene_variant MELA-AU 18 59537518 59537518 single base substitution G A intron_variant MELA-AU 18 59537621 59537622 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 18 59537621 59537622 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 59537699 59537699 single base substitution C T downstream_gene_variant MELA-AU 18 59537699 59537699 single base substitution C T intron_variant MELA-AU 18 59537844 59537844 single base substitution C T downstream_gene_variant MELA-AU 18 59537844 59537844 single base substitution C T intron_variant MELA-AU 18 59537865 59537865 single base substitution G A downstream_gene_variant MELA-AU 18 59537865 59537865 single base substitution G A intron_variant MELA-AU 18 59537878 59537878 single base substitution T C downstream_gene_variant MELA-AU 18 59537878 59537878 single base substitution T C intron_variant MELA-AU 18 59537982 59537982 single base substitution C T downstream_gene_variant MELA-AU 18 59537982 59537982 single base substitution C T intron_variant MELA-AU 18 59538016 59538016 single base substitution G A downstream_gene_variant MELA-AU 18 59538016 59538016 single base substitution G A intron_variant MELA-AU 18 59538024 59538024 single base substitution G A downstream_gene_variant MELA-AU 18 59538024 59538024 single base substitution G A intron_variant MELA-AU 18 59538035 59538036 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 59538035 59538036 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 59538186 59538186 single base substitution C T downstream_gene_variant MELA-AU 18 59538186 59538186 single base substitution C T intron_variant MELA-AU 18 59538691 59538691 single base substitution C T downstream_gene_variant MELA-AU 18 59538691 59538691 single base substitution C T intron_variant MELA-AU 18 59538817 59538817 single base substitution C T downstream_gene_variant MELA-AU 18 59538817 59538817 single base substitution C T intron_variant MELA-AU 18 59538901 59538901 single base substitution C T downstream_gene_variant MELA-AU 18 59538901 59538901 single base substitution C T intron_variant MELA-AU 18 59539002 59539003 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 59539002 59539003 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 59539132 59539132 single base substitution G A downstream_gene_variant MELA-AU 18 59539132 59539132 single base substitution G A intron_variant MELA-AU 18 59539146 59539146 single base substitution G A downstream_gene_variant MELA-AU 18 59539146 59539146 single base substitution G A intron_variant MELA-AU 18 59539182 59539182 single base substitution C T downstream_gene_variant MELA-AU 18 59539182 59539182 single base substitution C T intron_variant MELA-AU 18 59539195 59539195 single base substitution A G downstream_gene_variant MELA-AU 18 59539195 59539195 single base substitution A G intron_variant MELA-AU 18 59539300 59539300 single base substitution G A downstream_gene_variant MELA-AU 18 59539300 59539300 single base substitution G A intron_variant MELA-AU 18 59539310 59539310 single base substitution G A downstream_gene_variant MELA-AU 18 59539310 59539310 single base substitution G A intron_variant MELA-AU 18 59539315 59539315 single base substitution T C downstream_gene_variant MELA-AU 18 59539315 59539315 single base substitution T C intron_variant MELA-AU 18 59539608 59539608 single base substitution C T downstream_gene_variant MELA-AU 18 59539608 59539608 single base substitution C T intron_variant MELA-AU 18 59539637 59539637 single base substitution G A downstream_gene_variant MELA-AU 18 59539637 59539637 single base substitution G A intron_variant MELA-AU 18 59539918 59539918 single base substitution C T downstream_gene_variant MELA-AU 18 59539918 59539918 single base substitution C T intron_variant MELA-AU 18 59540067 59540067 single base substitution T A downstream_gene_variant MELA-AU 18 59540067 59540067 single base substitution T A intron_variant MELA-AU 18 59540102 59540102 single base substitution C T downstream_gene_variant MELA-AU 18 59540102 59540102 single base substitution C T intron_variant MELA-AU 18 59540420 59540420 single base substitution G A downstream_gene_variant MELA-AU 18 59540420 59540420 single base substitution G A intron_variant MELA-AU 18 59540664 59540664 single base substitution G A downstream_gene_variant MELA-AU 18 59540664 59540664 single base substitution G A intron_variant MELA-AU 18 59540862 59540862 single base substitution C T downstream_gene_variant MELA-AU 18 59540862 59540862 single base substitution C T intron_variant MELA-AU 18 59541182 59541182 single base substitution G A downstream_gene_variant MELA-AU 18 59541182 59541182 single base substitution G A intron_variant MELA-AU 18 59541194 59541194 single base substitution C T downstream_gene_variant MELA-AU 18 59541194 59541194 single base substitution C T intron_variant MELA-AU 18 59541260 59541260 single base substitution G A downstream_gene_variant MELA-AU 18 59541260 59541260 single base substitution G A intron_variant MELA-AU 18 59541360 59541360 single base substitution G A downstream_gene_variant MELA-AU 18 59541360 59541360 single base substitution G A intron_variant MELA-AU 18 59541500 59541501 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 59541500 59541501 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 59541578 59541578 single base substitution C T downstream_gene_variant MELA-AU 18 59541578 59541578 single base substitution C T intron_variant MELA-AU 18 59541650 59541650 single base substitution G A downstream_gene_variant MELA-AU 18 59541650 59541650 single base substitution G A intron_variant MELA-AU 18 59541691 59541691 single base substitution C T downstream_gene_variant MELA-AU 18 59541691 59541691 single base substitution C T intron_variant MELA-AU 18 59541784 59541784 single base substitution G A downstream_gene_variant MELA-AU 18 59541784 59541784 single base substitution G A intron_variant MELA-AU 18 59541906 59541906 single base substitution G A downstream_gene_variant MELA-AU 18 59541906 59541906 single base substitution G A intron_variant MELA-AU 18 59542187 59542187 single base substitution G A downstream_gene_variant MELA-AU 18 59542187 59542187 single base substitution G A intron_variant MELA-AU 18 59542303 59542303 single base substitution G A exon_variant MELA-AU 18 59542303 59542303 single base substitution G A intron_variant MELA-AU 18 59542310 59542310 single base substitution G A exon_variant MELA-AU 18 59542310 59542310 single base substitution G A intron_variant MELA-AU 18 59542376 59542376 single base substitution G A intron_variant MELA-AU 18 59542500 59542500 single base substitution C T intron_variant MELA-AU 18 59542555 59542555 single base substitution C T intron_variant MELA-AU 18 59542566 59542566 single base substitution C T intron_variant MELA-AU 18 59542659 59542659 single base substitution C T intron_variant MELA-AU 18 59542691 59542691 single base substitution C T intron_variant MELA-AU 18 59542699 59542699 single base substitution C T intron_variant MELA-AU 18 59542747 59542747 single base substitution C T intron_variant MELA-AU 18 59542884 59542884 single base substitution C T intron_variant MELA-AU 18 59543035 59543035 single base substitution C T intron_variant MELA-AU 18 59543091 59543091 single base substitution C T intron_variant MELA-AU 18 59543123 59543123 single base substitution C T intron_variant MELA-AU 18 59543193 59543193 single base substitution C T intron_variant MELA-AU 18 59543213 59543213 single base substitution C T intron_variant MELA-AU 18 59543227 59543227 single base substitution C T intron_variant MELA-AU 18 59543228 59543228 single base substitution C T intron_variant MELA-AU 18 59543465 59543465 single base substitution G A intron_variant MELA-AU 18 59543546 59543546 single base substitution T G intron_variant MELA-AU 18 59543554 59543554 single base substitution G A intron_variant MELA-AU 18 59543635 59543635 single base substitution G A intron_variant MELA-AU 18 59543647 59543647 single base substitution G A intron_variant MELA-AU 18 59543912 59543912 single base substitution G A intron_variant MELA-AU 18 59544027 59544027 single base substitution A G intron_variant MELA-AU 18 59544103 59544103 single base substitution G A intron_variant MELA-AU 18 59544226 59544226 single base substitution T A intron_variant MELA-AU 18 59544285 59544285 single base substitution C T intron_variant MELA-AU 18 59544676 59544676 single base substitution C T intron_variant MELA-AU 18 59544784 59544784 single base substitution G A intron_variant MELA-AU 18 59544831 59544831 single base substitution T C intron_variant MELA-AU 18 59544916 59544916 single base substitution G A intron_variant MELA-AU 18 59544990 59544990 single base substitution C T intron_variant MELA-AU 18 59545069 59545069 single base substitution C T intron_variant MELA-AU 18 59545389 59545389 single base substitution G A intron_variant MELA-AU 18 59545567 59545567 single base substitution G A intron_variant MELA-AU 18 59545680 59545680 single base substitution C T intron_variant MELA-AU 18 59545757 59545757 single base substitution C T intron_variant MELA-AU 18 59545791 59545791 single base substitution C T intron_variant MELA-AU 18 59546101 59546101 single base substitution C T intron_variant MELA-AU 18 59546210 59546210 single base substitution G A intron_variant MELA-AU 18 59546386 59546386 single base substitution G A intron_variant MELA-AU 18 59546418 59546418 single base substitution G A intron_variant MELA-AU 18 59546432 59546432 single base substitution T C intron_variant MELA-AU 18 59546437 59546437 single base substitution C T intron_variant MELA-AU 18 59546587 59546587 single base substitution G A intron_variant MELA-AU 18 59546626 59546626 single base substitution C T intron_variant MELA-AU 18 59546797 59546797 single base substitution G A intron_variant MELA-AU 18 59546816 59546816 single base substitution G A intron_variant MELA-AU 18 59546925 59546925 single base substitution G A intron_variant MELA-AU 18 59547066 59547066 single base substitution C T intron_variant MELA-AU 18 59547207 59547207 single base substitution A T intron_variant MELA-AU 18 59547231 59547231 single base substitution C T intron_variant MELA-AU 18 59547250 59547250 single base substitution G A intron_variant MELA-AU 18 59547266 59547266 single base substitution C T intron_variant MELA-AU 18 59547363 59547363 single base substitution C T intron_variant MELA-AU 18 59547418 59547418 single base substitution C T intron_variant MELA-AU 18 59547458 59547458 single base substitution C T intron_variant MELA-AU 18 59547487 59547487 single base substitution G A intron_variant MELA-AU 18 59547668 59547668 single base substitution C T intron_variant MELA-AU 18 59547748 59547748 single base substitution C T intron_variant MELA-AU 18 59547872 59547872 single base substitution G A intron_variant MELA-AU 18 59547908 59547908 single base substitution G A intron_variant MELA-AU 18 59548078 59548078 single base substitution C T intron_variant MELA-AU 18 59548237 59548237 single base substitution C T intron_variant MELA-AU 18 59548270 59548270 single base substitution C T intron_variant MELA-AU 18 59548487 59548487 single base substitution G A intron_variant MELA-AU 18 59548530 59548530 single base substitution G A intron_variant MELA-AU 18 59548571 59548571 single base substitution G C intron_variant MELA-AU 18 59548965 59548965 single base substitution C T intron_variant MELA-AU 18 59548985 59548985 single base substitution G A intron_variant MELA-AU 18 59549038 59549038 single base substitution G A intron_variant MELA-AU 18 59549077 59549077 single base substitution C T intron_variant MELA-AU 18 59549264 59549264 single base substitution C T intron_variant MELA-AU 18 59549277 59549277 single base substitution C T intron_variant MELA-AU 18 59549279 59549279 single base substitution G A intron_variant MELA-AU 18 59549285 59549285 single base substitution C T intron_variant MELA-AU 18 59549336 59549336 single base substitution G A intron_variant MELA-AU 18 59549372 59549372 single base substitution C T intron_variant MELA-AU 18 59549487 59549487 single base substitution G A intron_variant MELA-AU 18 59549569 59549569 single base substitution C T intron_variant MELA-AU 18 59549800 59549800 single base substitution G A intron_variant MELA-AU 18 59549911 59549911 single base substitution G A intron_variant MELA-AU 18 59549923 59549923 single base substitution G A intron_variant MELA-AU 18 59549932 59549932 single base substitution T G intron_variant MELA-AU 18 59549968 59549968 single base substitution A C intron_variant MELA-AU 18 59550603 59550603 single base substitution A G downstream_gene_variant MELA-AU 18 59550603 59550603 single base substitution A G intron_variant MELA-AU 18 59550637 59550637 single base substitution C T downstream_gene_variant MELA-AU 18 59550637 59550637 single base substitution C T intron_variant MELA-AU 18 59551001 59551001 single base substitution C T downstream_gene_variant MELA-AU 18 59551001 59551001 single base substitution C T intron_variant MELA-AU 18 59551048 59551048 single base substitution C T downstream_gene_variant MELA-AU 18 59551048 59551048 single base substitution C T intron_variant MELA-AU 18 59551292 59551292 single base substitution C T downstream_gene_variant MELA-AU 18 59551292 59551292 single base substitution C T intron_variant MELA-AU 18 59551417 59551417 single base substitution C T downstream_gene_variant MELA-AU 18 59551417 59551417 single base substitution C T intron_variant MELA-AU 18 59551555 59551555 single base substitution C T downstream_gene_variant MELA-AU 18 59551555 59551555 single base substitution C T intron_variant MELA-AU 18 59551573 59551573 single base substitution C T downstream_gene_variant MELA-AU 18 59551573 59551573 single base substitution C T intron_variant MELA-AU 18 59551635 59551635 single base substitution G A downstream_gene_variant MELA-AU 18 59551635 59551635 single base substitution G A intron_variant MELA-AU 18 59551658 59551659 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 59551658 59551659 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 59551730 59551730 single base substitution G A downstream_gene_variant MELA-AU 18 59551730 59551730 single base substitution G A intron_variant MELA-AU 18 59551901 59551901 single base substitution T G downstream_gene_variant MELA-AU 18 59551901 59551901 single base substitution T G intron_variant MELA-AU 18 59552000 59552000 single base substitution C T downstream_gene_variant MELA-AU 18 59552000 59552000 single base substitution C T intron_variant MELA-AU 18 59552250 59552250 single base substitution G A downstream_gene_variant MELA-AU 18 59552250 59552250 single base substitution G A intron_variant MELA-AU 18 59552276 59552276 single base substitution C T downstream_gene_variant MELA-AU 18 59552276 59552276 single base substitution C T intron_variant MELA-AU 18 59552381 59552381 single base substitution C T downstream_gene_variant MELA-AU 18 59552381 59552381 single base substitution C T intron_variant MELA-AU 18 59552494 59552494 single base substitution C T downstream_gene_variant MELA-AU 18 59552494 59552494 single base substitution C T intron_variant MELA-AU 18 59552589 59552589 single base substitution G A downstream_gene_variant MELA-AU 18 59552589 59552589 single base substitution G A intron_variant MELA-AU 18 59552732 59552732 single base substitution G A downstream_gene_variant MELA-AU 18 59552732 59552732 single base substitution G A intron_variant MELA-AU 18 59552737 59552737 single base substitution C T downstream_gene_variant MELA-AU 18 59552737 59552737 single base substitution C T intron_variant MELA-AU 18 59552884 59552884 single base substitution C T downstream_gene_variant MELA-AU 18 59552884 59552884 single base substitution C T intron_variant MELA-AU 18 59552903 59552903 single base substitution C T downstream_gene_variant MELA-AU 18 59552903 59552903 single base substitution C T intron_variant MELA-AU 18 59552938 59552938 single base substitution C A downstream_gene_variant MELA-AU 18 59552938 59552938 single base substitution C A intron_variant MELA-AU 18 59553485 59553485 single base substitution A C downstream_gene_variant MELA-AU 18 59553485 59553485 single base substitution A C intron_variant MELA-AU 18 59553663 59553663 single base substitution A G downstream_gene_variant MELA-AU 18 59553663 59553663 single base substitution A G intron_variant MELA-AU 18 59553912 59553912 single base substitution G A downstream_gene_variant MELA-AU 18 59553912 59553912 single base substitution G A intron_variant MELA-AU 18 59553932 59553932 single base substitution G A downstream_gene_variant MELA-AU 18 59553932 59553932 single base substitution G A intron_variant MELA-AU 18 59554311 59554311 single base substitution G A downstream_gene_variant MELA-AU 18 59554311 59554311 single base substitution G A intron_variant MELA-AU 18 59554312 59554312 single base substitution G A downstream_gene_variant MELA-AU 18 59554312 59554312 single base substitution G A intron_variant MELA-AU 18 59554384 59554384 single base substitution G A downstream_gene_variant MELA-AU 18 59554384 59554384 single base substitution G A intron_variant MELA-AU 18 59554400 59554400 single base substitution A T downstream_gene_variant MELA-AU 18 59554400 59554400 single base substitution A T intron_variant MELA-AU 18 59554470 59554470 single base substitution G A downstream_gene_variant MELA-AU 18 59554470 59554470 single base substitution G A intron_variant MELA-AU 18 59554712 59554712 single base substitution G A downstream_gene_variant MELA-AU 18 59554712 59554712 single base substitution G A intron_variant MELA-AU 18 59554815 59554815 single base substitution C T downstream_gene_variant MELA-AU 18 59554815 59554815 single base substitution C T intron_variant MELA-AU 18 59554962 59554962 single base substitution C T downstream_gene_variant MELA-AU 18 59554962 59554962 single base substitution C T intron_variant MELA-AU 18 59555006 59555006 single base substitution C T downstream_gene_variant MELA-AU 18 59555006 59555006 single base substitution C T intron_variant MELA-AU 18 59555162 59555162 single base substitution C T downstream_gene_variant MELA-AU 18 59555162 59555162 single base substitution C T intron_variant MELA-AU 18 59555261 59555261 single base substitution G A downstream_gene_variant MELA-AU 18 59555261 59555261 single base substitution G A intron_variant MELA-AU 18 59555447 59555447 single base substitution C T intron_variant MELA-AU 18 59555624 59555624 single base substitution G A intron_variant MELA-AU 18 59555736 59555736 deletion of <=200bp A - intron_variant MELA-AU 18 59555793 59555793 single base substitution C T intron_variant MELA-AU 18 59556033 59556033 single base substitution G A intron_variant MELA-AU 18 59556058 59556058 single base substitution C T intron_variant MELA-AU 18 59556240 59556240 single base substitution G A intron_variant MELA-AU 18 59556251 59556251 single base substitution C T intron_variant MELA-AU 18 59556425 59556425 single base substitution C T intron_variant MELA-AU 18 59556621 59556621 single base substitution C T intron_variant MELA-AU 18 59556687 59556687 single base substitution C T intron_variant MELA-AU 18 59556736 59556736 single base substitution C T intron_variant MELA-AU 18 59557493 59557493 single base substitution G A intron_variant MELA-AU 18 59557510 59557510 single base substitution C T intron_variant MELA-AU 18 59557589 59557589 single base substitution G A intron_variant MELA-AU 18 59558207 59558207 single base substitution C G intron_variant MELA-AU 18 59558473 59558473 single base substitution G A intron_variant MELA-AU 18 59558474 59558474 single base substitution G A intron_variant MELA-AU 18 59559024 59559024 single base substitution G A intron_variant MELA-AU 18 59559196 59559196 single base substitution G A intron_variant MELA-AU 18 59559244 59559244 single base substitution T C intron_variant MELA-AU 18 59559638 59559638 single base substitution C T intron_variant MELA-AU 18 59559795 59559795 single base substitution G A intron_variant MELA-AU 18 59560056 59560056 single base substitution C T 5_prime_UTR_variant MELA-AU 18 59560056 59560056 single base substitution C T exon_variant MELA-AU 18 59560226 59560226 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 18 59560226 59560226 single base substitution G A intron_variant MELA-AU 18 59560795 59560795 single base substitution G A 5_prime_UTR_variant MELA-AU 18 59560795 59560795 single base substitution G A exon_variant MELA-AU 18 59560795 59560795 single base substitution G A intron_variant MELA-AU 18 59560981 59560981 single base substitution G A 5_prime_UTR_variant MELA-AU 18 59560981 59560981 single base substitution G A intron_variant MELA-AU 18 59560981 59560981 single base substitution G A upstream_gene_variant MELA-AU 18 59561700 59561700 single base substitution G A upstream_gene_variant MELA-AU 18 59562198 59562198 single base substitution G A upstream_gene_variant MELA-AU 18 59562289 59562289 single base substitution C T upstream_gene_variant MELA-AU 18 59562473 59562473 single base substitution G A upstream_gene_variant MELA-AU 18 59562660 59562660 single base substitution G A upstream_gene_variant MELA-AU 18 59562901 59562901 single base substitution T G upstream_gene_variant MELA-AU 18 59562991 59562991 single base substitution C T upstream_gene_variant MELA-AU 18 59563075 59563075 single base substitution C T upstream_gene_variant MELA-AU 18 59563379 59563379 single base substitution C T upstream_gene_variant MELA-AU 18 59563390 59563390 single base substitution C T upstream_gene_variant MELA-AU 18 59563406 59563406 single base substitution C T upstream_gene_variant MELA-AU 18 59563437 59563437 single base substitution G A upstream_gene_variant MELA-AU 18 59563442 59563442 single base substitution G A upstream_gene_variant MELA-AU 18 59563534 59563534 single base substitution C T upstream_gene_variant MELA-AU 18 59563566 59563566 single base substitution C T upstream_gene_variant MELA-AU 18 59563944 59563944 single base substitution G T upstream_gene_variant MELA-AU 18 59564195 59564195 single base substitution C T upstream_gene_variant MELA-AU 18 59564405 59564405 single base substitution G A upstream_gene_variant MELA-AU 18 59564502 59564502 single base substitution C T upstream_gene_variant MELA-AU 18 59564584 59564584 single base substitution C T upstream_gene_variant MELA-AU 18 59564640 59564640 single base substitution G A upstream_gene_variant MELA-AU 18 59564653 59564653 single base substitution G A upstream_gene_variant MELA-AU 18 59564704 59564704 single base substitution C T upstream_gene_variant MELA-AU 18 59564809 59564809 single base substitution G A upstream_gene_variant MELA-AU 18 59564907 59564907 single base substitution T G upstream_gene_variant MELA-AU 18 59564947 59564952 deletion of <=200bp AGGTTA - upstream_gene_variant MELA-AU 18 59565137 59565137 single base substitution G A upstream_gene_variant MELA-AU 18 59565423 59565423 single base substitution G A upstream_gene_variant MELA-AU 18 59565447 59565447 single base substitution G C upstream_gene_variant MELA-AU 18 59565485 59565485 single base substitution G A upstream_gene_variant MELA-AU 18 59565625 59565625 single base substitution G A upstream_gene_variant MELA-AU 18 59565662 59565662 single base substitution G A upstream_gene_variant MELA-AU 18 59565823 59565823 single base substitution G A upstream_gene_variant MELA-AU 18 59565871 59565871 single base substitution C T upstream_gene_variant MELA-AU 18 59565988 59565988 single base substitution C T upstream_gene_variant MELA-AU 18 59566181 59566181 single base substitution G A upstream_gene_variant MELA-AU 18 59566198 59566198 single base substitution G A upstream_gene_variant MELA-AU 18 59566469 59566469 single base substitution G A upstream_gene_variant ORCA-IN 18 59499987 59499987 single base substitution A G intron_variant ORCA-IN 18 59507353 59507353 single base substitution G A intron_variant ORCA-IN 18 59511363 59511364 multiple base substitution (>=2bp and <=200bp) GA TT intron_variant ORCA-IN 18 59520147 59520147 single base substitution C G intron_variant ORCA-IN 18 59542456 59542456 single base substitution G C intron_variant ORCA-IN 18 59547884 59547884 single base substitution G A intron_variant OV-AU 18 59471056 59471056 single base substitution A G downstream_gene_variant OV-AU 18 59481012 59481012 single base substitution C A 3_prime_UTR_variant OV-AU 18 59481012 59481012 single base substitution C A downstream_gene_variant OV-AU 18 59493383 59493383 single base substitution T C intron_variant OV-AU 18 59494404 59494404 single base substitution G C intron_variant OV-AU 18 59512924 59512924 single base substitution C T intron_variant OV-AU 18 59515550 59515550 single base substitution T G intron_variant OV-AU 18 59515926 59515926 single base substitution A C intron_variant OV-AU 18 59517433 59517433 single base substitution T C intron_variant OV-AU 18 59525545 59525545 single base substitution C T intron_variant OV-AU 18 59534763 59534763 single base substitution A C intron_variant OV-AU 18 59540658 59540658 single base substitution C A downstream_gene_variant OV-AU 18 59540658 59540658 single base substitution C A intron_variant OV-AU 18 59548642 59548642 single base substitution C G intron_variant OV-AU 18 59556503 59556503 single base substitution G C intron_variant OV-AU 18 59557730 59557730 single base substitution G T exon_variant OV-AU 18 59557730 59557730 single base substitution G T intron_variant OV-AU 18 59561664 59561664 single base substitution G C upstream_gene_variant PACA-AU 18 59474334 59474334 single base substitution G T downstream_gene_variant PACA-AU 18 59476313 59476313 single base substitution A T 3_prime_UTR_variant PACA-AU 18 59477861 59477861 single base substitution C A 3_prime_UTR_variant PACA-AU 18 59484850 59484850 single base substitution A G intron_variant PACA-AU 18 59487074 59487074 single base substitution C T intron_variant PACA-AU 18 59492691 59492691 single base substitution G A intron_variant PACA-AU 18 59507483 59507483 single base substitution G A intron_variant PACA-AU 18 59513155 59513155 single base substitution G T intron_variant PACA-AU 18 59520741 59520741 single base substitution T C intron_variant PACA-AU 18 59525759 59525759 single base substitution A T intron_variant PACA-AU 18 59526787 59526787 single base substitution G C intron_variant PACA-AU 18 59550345 59550345 single base substitution C T intron_variant PACA-AU 18 59563744 59563744 single base substitution C T upstream_gene_variant PACA-CA 18 59470341 59470341 single base substitution G A downstream_gene_variant PACA-CA 18 59471211 59471211 single base substitution C T downstream_gene_variant PACA-CA 18 59473664 59473664 single base substitution G T downstream_gene_variant PACA-CA 18 59474272 59474272 deletion of <=200bp A - downstream_gene_variant PACA-CA 18 59474411 59474411 single base substitution G A downstream_gene_variant PACA-CA 18 59478906 59478906 single base substitution G T 3_prime_UTR_variant PACA-CA 18 59478906 59478906 single base substitution G T downstream_gene_variant PACA-CA 18 59480210 59480210 single base substitution G A 3_prime_UTR_variant PACA-CA 18 59480210 59480210 single base substitution G A downstream_gene_variant PACA-CA 18 59481087 59481087 single base substitution C A 3_prime_UTR_variant PACA-CA 18 59481087 59481087 single base substitution C A downstream_gene_variant PACA-CA 18 59481605 59481605 single base substitution A C 3_prime_UTR_variant PACA-CA 18 59481605 59481605 single base substitution A C downstream_gene_variant PACA-CA 18 59486250 59486250 single base substitution G T intron_variant PACA-CA 18 59487075 59487075 single base substitution G A intron_variant PACA-CA 18 59489774 59489774 single base substitution T A intron_variant PACA-CA 18 59490729 59490729 single base substitution G A intron_variant PACA-CA 18 59490811 59490811 single base substitution C T intron_variant PACA-CA 18 59494331 59494331 single base substitution C T intron_variant PACA-CA 18 59494362 59494362 single base substitution G A intron_variant PACA-CA 18 59496801 59496801 single base substitution T G intron_variant PACA-CA 18 59498849 59498849 deletion of <=200bp A - intron_variant PACA-CA 18 59500975 59500975 single base substitution C G intron_variant PACA-CA 18 59506090 59506090 single base substitution G C intron_variant PACA-CA 18 59511322 59511323 deletion of <=200bp AG - intron_variant PACA-CA 18 59511326 59511327 deletion of <=200bp AG - intron_variant PACA-CA 18 59513153 59513153 insertion of <=200bp - G intron_variant PACA-CA 18 59514682 59514682 single base substitution T A intron_variant PACA-CA 18 59514973 59514973 single base substitution C T intron_variant PACA-CA 18 59515924 59515924 single base substitution G T intron_variant PACA-CA 18 59518903 59518903 single base substitution T C intron_variant PACA-CA 18 59535793 59535793 single base substitution G A intron_variant PACA-CA 18 59538109 59538109 single base substitution G T downstream_gene_variant PACA-CA 18 59538109 59538109 single base substitution G T intron_variant PACA-CA 18 59538724 59538724 single base substitution A G downstream_gene_variant PACA-CA 18 59538724 59538724 single base substitution A G intron_variant PACA-CA 18 59546450 59546450 single base substitution C A intron_variant PACA-CA 18 59550112 59550112 single base substitution C T intron_variant PACA-CA 18 59554352 59554352 single base substitution G A downstream_gene_variant PACA-CA 18 59554352 59554352 single base substitution G A intron_variant PACA-CA 18 59554426 59554426 single base substitution T C downstream_gene_variant PACA-CA 18 59554426 59554426 single base substitution T C intron_variant PACA-CA 18 59557993 59557993 single base substitution T C intron_variant PACA-CA 18 59564283 59564283 single base substitution T G upstream_gene_variant PACA-CA 18 59565773 59565773 deletion of <=200bp G - upstream_gene_variant PACA-CA 18 59566339 59566339 single base substitution C G upstream_gene_variant PAEN-AU 18 59499193 59499193 single base substitution T A intron_variant PAEN-AU 18 59504088 59504088 single base substitution C T intron_variant PAEN-IT 18 59477193 59477193 single base substitution C A 3_prime_UTR_variant PAEN-IT 18 59506185 59506185 single base substitution T A intron_variant PAEN-IT 18 59526571 59526571 single base substitution C T intron_variant PAEN-IT 18 59527469 59527469 single base substitution C T intron_variant PAEN-IT 18 59540045 59540045 single base substitution C G downstream_gene_variant PAEN-IT 18 59540045 59540045 single base substitution C G intron_variant PBCA-DE 18 59476057 59476057 single base substitution G C 3_prime_UTR_variant PBCA-DE 18 59484976 59484976 deletion of <=200bp A - intron_variant PBCA-DE 18 59489916 59489916 single base substitution T C intron_variant PBCA-DE 18 59498849 59498849 insertion of <=200bp - A intron_variant PBCA-DE 18 59501917 59501917 single base substitution T A intron_variant PBCA-DE 18 59526515 59526515 single base substitution A G intron_variant PBCA-DE 18 59532192 59532192 single base substitution G A intron_variant PBCA-DE 18 59535949 59535949 insertion of <=200bp - A intron_variant PBCA-DE 18 59553208 59553218 deletion of <=200bp CTTTTGCTTTC - downstream_gene_variant PBCA-DE 18 59553208 59553218 deletion of <=200bp CTTTTGCTTTC - intron_variant PBCA-DE 18 59553330 59553330 single base substitution G A downstream_gene_variant PBCA-DE 18 59553330 59553330 single base substitution G A intron_variant PBCA-DE 18 59566445 59566445 deletion of <=200bp G - upstream_gene_variant PRAD-CA 18 59483354 59483354 single base substitution C A downstream_gene_variant PRAD-CA 18 59483354 59483354 single base substitution C A stop_gained G115* 343G>T PRAD-CA 18 59503653 59503653 single base substitution A C intron_variant PRAD-CA 18 59518945 59518945 single base substitution C A intron_variant PRAD-CA 18 59530930 59530930 single base substitution C T intron_variant PRAD-CA 18 59547732 59547732 single base substitution C T intron_variant PRAD-CA 18 59566397 59566397 single base substitution G T upstream_gene_variant PRAD-UK 18 59479197 59479197 single base substitution C A 3_prime_UTR_variant PRAD-UK 18 59479197 59479197 single base substitution C A downstream_gene_variant PRAD-UK 18 59489067 59489067 single base substitution C G intron_variant PRAD-UK 18 59504144 59504144 single base substitution T A intron_variant PRAD-UK 18 59531020 59531020 single base substitution C T intron_variant PRAD-UK 18 59564798 59564798 single base substitution G T upstream_gene_variant RECA-EU 18 59472288 59472288 single base substitution T C downstream_gene_variant RECA-EU 18 59476770 59476770 single base substitution G T 3_prime_UTR_variant RECA-EU 18 59480459 59480459 single base substitution A G 3_prime_UTR_variant RECA-EU 18 59480459 59480459 single base substitution A G downstream_gene_variant RECA-EU 18 59501271 59501271 single base substitution T G intron_variant RECA-EU 18 59502677 59502677 single base substitution T G intron_variant RECA-EU 18 59509492 59509492 single base substitution T C intron_variant RECA-EU 18 59513078 59513078 single base substitution T A intron_variant RECA-EU 18 59514350 59514350 single base substitution A G intron_variant RECA-EU 18 59517468 59517468 single base substitution C T intron_variant RECA-EU 18 59518851 59518851 single base substitution G T intron_variant RECA-EU 18 59519095 59519095 single base substitution T G intron_variant RECA-EU 18 59520966 59520966 single base substitution A G intron_variant RECA-EU 18 59543839 59543839 single base substitution A T intron_variant RECA-EU 18 59557439 59557439 single base substitution C T intron_variant RECA-EU 18 59560084 59560084 single base substitution T C 5_prime_UTR_variant RECA-EU 18 59560084 59560084 single base substitution T C exon_variant SKCA-BR 18 59470341 59470341 single base substitution G A downstream_gene_variant SKCA-BR 18 59470787 59470787 single base substitution C T downstream_gene_variant SKCA-BR 18 59470897 59470897 single base substitution A C downstream_gene_variant SKCA-BR 18 59471288 59471288 single base substitution C T downstream_gene_variant SKCA-BR 18 59471305 59471305 single base substitution C T downstream_gene_variant SKCA-BR 18 59471347 59471347 single base substitution C T downstream_gene_variant SKCA-BR 18 59472235 59472235 single base substitution G A downstream_gene_variant SKCA-BR 18 59472346 59472346 single base substitution G A downstream_gene_variant SKCA-BR 18 59472831 59472831 single base substitution C T downstream_gene_variant SKCA-BR 18 59472947 59472947 single base substitution G A downstream_gene_variant SKCA-BR 18 59474631 59474631 single base substitution G A downstream_gene_variant SKCA-BR 18 59476315 59476315 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 59476862 59476862 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 59477807 59477807 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 59478079 59478079 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 59479169 59479169 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 59479169 59479169 single base substitution C T downstream_gene_variant SKCA-BR 18 59479517 59479517 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 59479517 59479517 single base substitution C T downstream_gene_variant SKCA-BR 18 59479602 59479602 single base substitution T C 3_prime_UTR_variant SKCA-BR 18 59479602 59479602 single base substitution T C downstream_gene_variant SKCA-BR 18 59480988 59480988 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 59480988 59480988 single base substitution C T downstream_gene_variant SKCA-BR 18 59481504 59481504 single base substitution T C 3_prime_UTR_variant SKCA-BR 18 59481504 59481504 single base substitution T C downstream_gene_variant SKCA-BR 18 59481713 59481713 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 59481713 59481713 single base substitution G A downstream_gene_variant SKCA-BR 18 59482289 59482289 single base substitution A C 3_prime_UTR_variant SKCA-BR 18 59482289 59482289 single base substitution A C downstream_gene_variant SKCA-BR 18 59482654 59482654 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 59482654 59482654 single base substitution C T downstream_gene_variant SKCA-BR 18 59483900 59483900 single base substitution G A intron_variant SKCA-BR 18 59484318 59484318 single base substitution C T intron_variant SKCA-BR 18 59485380 59485380 single base substitution G A intron_variant SKCA-BR 18 59486186 59486186 single base substitution G A intron_variant SKCA-BR 18 59486241 59486241 single base substitution C T intron_variant SKCA-BR 18 59486300 59486300 single base substitution G A intron_variant SKCA-BR 18 59487516 59487516 single base substitution C T intron_variant SKCA-BR 18 59487973 59487973 single base substitution C T intron_variant SKCA-BR 18 59488728 59488728 single base substitution C T intron_variant SKCA-BR 18 59489123 59489123 single base substitution C T intron_variant SKCA-BR 18 59489465 59489465 single base substitution T A intron_variant SKCA-BR 18 59489731 59489731 single base substitution C T intron_variant SKCA-BR 18 59491397 59491397 single base substitution T A intron_variant SKCA-BR 18 59492637 59492637 single base substitution G A intron_variant SKCA-BR 18 59493553 59493553 single base substitution C T intron_variant SKCA-BR 18 59493733 59493733 single base substitution C T intron_variant SKCA-BR 18 59493941 59493941 single base substitution C T intron_variant SKCA-BR 18 59494034 59494034 single base substitution T C intron_variant SKCA-BR 18 59494854 59494854 single base substitution C T intron_variant SKCA-BR 18 59495186 59495186 single base substitution C T intron_variant SKCA-BR 18 59495187 59495187 single base substitution C T intron_variant SKCA-BR 18 59495453 59495453 single base substitution A T intron_variant SKCA-BR 18 59495565 59495565 single base substitution T A intron_variant SKCA-BR 18 59495846 59495846 single base substitution C T intron_variant SKCA-BR 18 59496169 59496169 single base substitution G A intron_variant SKCA-BR 18 59496209 59496209 single base substitution C T intron_variant SKCA-BR 18 59496618 59496618 single base substitution G A intron_variant SKCA-BR 18 59497258 59497258 insertion of <=200bp - CTT intron_variant SKCA-BR 18 59497581 59497581 single base substitution C T intron_variant SKCA-BR 18 59499155 59499155 single base substitution T G intron_variant SKCA-BR 18 59500408 59500408 single base substitution G A intron_variant SKCA-BR 18 59501361 59501361 single base substitution T C intron_variant SKCA-BR 18 59501369 59501369 single base substitution T C intron_variant SKCA-BR 18 59502018 59502018 single base substitution C T intron_variant SKCA-BR 18 59502221 59502221 single base substitution T C intron_variant SKCA-BR 18 59502649 59502649 single base substitution G A intron_variant SKCA-BR 18 59503684 59503684 single base substitution C T intron_variant SKCA-BR 18 59504088 59504088 single base substitution C T intron_variant SKCA-BR 18 59504519 59504519 single base substitution G C intron_variant SKCA-BR 18 59504846 59504846 single base substitution C T intron_variant SKCA-BR 18 59507011 59507011 single base substitution C T intron_variant SKCA-BR 18 59507144 59507144 single base substitution G A intron_variant SKCA-BR 18 59507223 59507223 single base substitution C T intron_variant SKCA-BR 18 59507828 59507828 single base substitution C T intron_variant SKCA-BR 18 59508801 59508801 single base substitution G A intron_variant SKCA-BR 18 59508888 59508888 single base substitution G A intron_variant SKCA-BR 18 59509515 59509515 single base substitution C T intron_variant SKCA-BR 18 59509761 59509761 single base substitution T G intron_variant SKCA-BR 18 59510591 59510591 single base substitution C T intron_variant SKCA-BR 18 59511300 59511300 single base substitution C A intron_variant SKCA-BR 18 59511327 59511327 insertion of <=200bp - GAAAGAAAGAAAGAAAGAAAGAAAGAA intron_variant SKCA-BR 18 59511343 59511343 insertion of <=200bp - GAA intron_variant SKCA-BR 18 59511345 59511347 deletion of <=200bp AAG - intron_variant SKCA-BR 18 59511444 59511444 single base substitution G A intron_variant SKCA-BR 18 59513697 59513697 single base substitution C T intron_variant SKCA-BR 18 59514577 59514577 single base substitution C T intron_variant SKCA-BR 18 59514727 59514727 single base substitution T G intron_variant SKCA-BR 18 59516453 59516453 single base substitution C T intron_variant SKCA-BR 18 59519672 59519672 single base substitution C T intron_variant SKCA-BR 18 59521834 59521834 single base substitution T C intron_variant SKCA-BR 18 59524068 59524068 single base substitution G A intron_variant SKCA-BR 18 59525696 59525696 single base substitution C T intron_variant SKCA-BR 18 59525942 59525942 single base substitution G A intron_variant SKCA-BR 18 59529351 59529351 single base substitution G A intron_variant SKCA-BR 18 59529396 59529396 single base substitution T A intron_variant SKCA-BR 18 59530097 59530097 single base substitution G A intron_variant SKCA-BR 18 59530346 59530346 single base substitution G A intron_variant SKCA-BR 18 59530661 59530661 single base substitution C G intron_variant SKCA-BR 18 59531079 59531079 single base substitution T G intron_variant SKCA-BR 18 59533343 59533343 single base substitution G A intron_variant SKCA-BR 18 59533542 59533542 single base substitution G A intron_variant SKCA-BR 18 59533784 59533784 single base substitution C T intron_variant SKCA-BR 18 59535577 59535577 single base substitution G A intron_variant SKCA-BR 18 59537389 59537389 single base substitution G A downstream_gene_variant SKCA-BR 18 59537389 59537389 single base substitution G A intron_variant SKCA-BR 18 59537740 59537740 single base substitution C G downstream_gene_variant SKCA-BR 18 59537740 59537740 single base substitution C G intron_variant SKCA-BR 18 59538434 59538434 single base substitution A C downstream_gene_variant SKCA-BR 18 59538434 59538434 single base substitution A C intron_variant SKCA-BR 18 59539599 59539599 single base substitution C T downstream_gene_variant SKCA-BR 18 59539599 59539599 single base substitution C T intron_variant SKCA-BR 18 59540179 59540179 single base substitution C T downstream_gene_variant SKCA-BR 18 59540179 59540179 single base substitution C T intron_variant SKCA-BR 18 59541654 59541654 single base substitution G A downstream_gene_variant SKCA-BR 18 59541654 59541654 single base substitution G A intron_variant SKCA-BR 18 59542230 59542230 single base substitution C A downstream_gene_variant SKCA-BR 18 59542230 59542230 single base substitution C A intron_variant SKCA-BR 18 59542884 59542884 single base substitution C T intron_variant SKCA-BR 18 59543254 59543254 single base substitution C T intron_variant SKCA-BR 18 59543255 59543255 single base substitution C T intron_variant SKCA-BR 18 59546650 59546650 single base substitution G A intron_variant SKCA-BR 18 59546847 59546847 single base substitution C T intron_variant SKCA-BR 18 59547186 59547186 single base substitution G A intron_variant SKCA-BR 18 59548902 59548902 single base substitution A G intron_variant SKCA-BR 18 59550040 59550040 single base substitution G A intron_variant SKCA-BR 18 59550051 59550051 single base substitution G A intron_variant SKCA-BR 18 59550217 59550217 single base substitution A T intron_variant SKCA-BR 18 59551352 59551352 single base substitution G A downstream_gene_variant SKCA-BR 18 59551352 59551352 single base substitution G A intron_variant SKCA-BR 18 59552931 59552931 single base substitution G T downstream_gene_variant SKCA-BR 18 59552931 59552931 single base substitution G T intron_variant SKCA-BR 18 59554020 59554020 single base substitution A C downstream_gene_variant SKCA-BR 18 59554020 59554020 single base substitution A C intron_variant SKCA-BR 18 59554376 59554376 single base substitution G A downstream_gene_variant SKCA-BR 18 59554376 59554376 single base substitution G A intron_variant SKCA-BR 18 59554712 59554712 single base substitution G A downstream_gene_variant SKCA-BR 18 59554712 59554712 single base substitution G A intron_variant SKCA-BR 18 59554934 59554935 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 18 59554934 59554935 deletion of <=200bp CA - intron_variant SKCA-BR 18 59554934 59554936 deletion of <=200bp CAA - downstream_gene_variant SKCA-BR 18 59554934 59554936 deletion of <=200bp CAA - intron_variant SKCA-BR 18 59555133 59555133 single base substitution T G downstream_gene_variant SKCA-BR 18 59555133 59555133 single base substitution T G intron_variant SKCA-BR 18 59555481 59555481 single base substitution G A intron_variant SKCA-BR 18 59555563 59555563 single base substitution C T intron_variant SKCA-BR 18 59563026 59563038 deletion of <=200bp CCTTTTTTTTTTT - upstream_gene_variant SKCA-BR 18 59564860 59564860 single base substitution G A upstream_gene_variant SKCA-BR 18 59566448 59566448 single base substitution C T upstream_gene_variant SKCM-US 18 59483100 59483100 single base substitution C T downstream_gene_variant SKCM-US 18 59483100 59483100 single base substitution C T synonymous_variant V199V 597G>A SKCM-US 18 59483147 59483147 single base substitution C T downstream_gene_variant SKCM-US 18 59483147 59483147 single base substitution C T missense_variant G184S 550G>A SKCM-US 18 59483148 59483148 single base substitution G A downstream_gene_variant SKCM-US 18 59483148 59483148 single base substitution G A synonymous_variant L183L 549C>T SKCM-US 18 59483237 59483237 single base substitution C T downstream_gene_variant SKCM-US 18 59483237 59483237 single base substitution C T missense_variant E154K 460G>A SKCM-US 18 59483240 59483240 single base substitution C T downstream_gene_variant SKCM-US 18 59483240 59483240 single base substitution C T missense_variant E153K 457G>A SKCM-US 18 59483292 59483292 single base substitution G A downstream_gene_variant SKCM-US 18 59483292 59483292 single base substitution G A synonymous_variant I135I 405C>T SKCM-US 18 59483343 59483343 single base substitution G A downstream_gene_variant SKCM-US 18 59483343 59483343 single base substitution G A synonymous_variant G118G 354C>T SKCM-US 18 59483346 59483346 single base substitution C T downstream_gene_variant SKCM-US 18 59483346 59483346 single base substitution C T missense_variant M117I 351G>A SKCM-US 18 59483351 59483351 single base substitution C T downstream_gene_variant SKCM-US 18 59483351 59483351 single base substitution C T missense_variant D116N 346G>A SKCM-US 18 59483414 59483414 single base substitution G A missense_variant P95S 283C>T SKCM-US 18 59483443 59483443 single base substitution G A missense_variant S85F 254C>T SKCM-US 18 59483483 59483483 single base substitution C T missense_variant D72N 214G>A SKCM-US 18 59483490 59483490 single base substitution G A synonymous_variant L69L 207C>T SKCM-US 18 59483555 59483555 single base substitution C T missense_variant D48N 142G>A SKCM-US 18 59483638 59483638 single base substitution C T missense_variant S20N 59G>A SKCM-US 18 59483667 59483667 single base substitution C T synonymous_variant L10L 30G>A SKCM-US 18 59483681 59483681 single base substitution G A stop_gained Q6* 16C>T SKCM-US 18 59483682 59483682 single base substitution G A synonymous_variant S5S 15C>T SKCM-US 18 59483693 59483693 single base substitution C T missense_variant E2K 4G>A STAD-US 18 59483133 59483133 single base substitution G A downstream_gene_variant STAD-US 18 59483133 59483133 single base substitution G A synonymous_variant H188H 564C>T STAD-US 18 59483265 59483265 single base substitution A G downstream_gene_variant STAD-US 18 59483265 59483265 single base substitution A G synonymous_variant G144G 432T>C STAD-US 18 59483266 59483266 single base substitution C A downstream_gene_variant STAD-US 18 59483266 59483266 single base substitution C A missense_variant G144V 431G>T STAD-US 18 59483442 59483442 single base substitution G A synonymous_variant S85S 255C>T STAD-US 18 59483549 59483549 single base substitution G A missense_variant R50W 148C>T STAD-US 18 59483784 59483784 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 18 59483116 59483116 single base substitution G T downstream_gene_variant UCEC-US 18 59483116 59483116 single base substitution G T missense_variant S194Y 581C>A UCEC-US 18 59483488 59483488 single base substitution G A missense_variant P70L 209C>T UCEC-US 18 59483497 59483497 single base substitution G A missense_variant S67L 200C>T UCEC-US 18 59483687 59483687 single base substitution G A synonymous_variant L4L 10C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-6452-01 COSM294777 c.148C>T p.R50W Substitution - Missense 18:61816316-61816316 - 4537_T COSM3959314 c.366G>C p.L122L Substitution - coding silent 18:61816098-61816098 - LUAD-CHTN-MAD06-00668 COSM359222 c.363G>T p.L121L Substitution - coding silent 18:61816101-61816101 - TCGA-EE-A2MR-06 COSM3526895 c.351G>A p.M117I Substitution - Missense 18:61816113-61816113 - ESO-167 COSM1264352 c.550G>A p.G184S Substitution - Missense 18:61815914-61815914 - HCC30T COSM1611335 c.329G>T p.R110L Substitution - Missense 18:61816135-61816135 - BCB307T COSM4950163 c.372delG p.S125fs*9 Deletion - Frameshift 18:61816092-61816092 - TCGA-AA-3713-01 COSM1389396 c.332C>T p.A111V Substitution - Missense 18:61816132-61816132 - TCGA-D3-A1Q6-06 COSM3526896 c.346G>A p.D116N Substitution - Missense 18:61816118-61816118 - C086 COSM5538289 c.546C>A p.L182L Substitution - coding silent 18:61815918-61815918 - YUJUBE COSM5388325 c.321C>T p.S107S Substitution - coding silent 18:61816143-61816143 - TCGA-DK-A3IL-01 COSM1303803 c.374G>C p.S125T Substitution - Missense 18:61816090-61816090 - Au4 COSM2881315 c.283C>T p.P95S Substitution - Missense 18:61816181-61816181 - 2492708 COSM564140 c.473G>A p.R158Q Substitution - Missense 18:61815991-61815991 - YUROC COSM5388326 c.280C>T p.L94F Substitution - Missense 18:61816184-61816184 - MD-051 COSM303121 c.369C>A p.P123P Substitution - coding silent 18:61816095-61816095 - TCGA-D3-A5GO-06 COSM3526897 c.254C>T p.S85F Substitution - Missense 18:61816210-61816210 - 3765_T COSM3959315 c.149G>T p.R50L Substitution - Missense 18:61816315-61816315 - TCGA-QB-A6FS-06 COSM3891218 c.30G>A p.L10L Substitution - coding silent 18:61816434-61816434 - TCGA-AB-2829-03 COSM1318389 c.359G>A p.R120H Substitution - Missense 18:61816105-61816105 - TCGA-BR-8679-01 COSM4072847 c.564C>T p.H188H Substitution - coding silent 18:61815900-61815900 - CLL059 COSM1290841 c.429A>T p.Q143H Substitution - Missense 18:61816035-61816035 - TCGA-BR-4292-01 COSM4072850 c.255C>T p.S85S Substitution - coding silent 18:61816209-61816209 - TCGA-D7-A4YU-01 COSM4072849 c.431G>T p.G144V Substitution - Missense 18:61816033-61816033 - ESCC_60 COSM5632716 c.436G>T p.A146S Substitution - Missense 18:61816028-61816028 - TCGA-ER-A193-06 COSM3526898 c.214G>A p.D72N Substitution - Missense 18:61816250-61816250 - HCC1954 COSM27213 c.200C>T p.S67L Substitution - Missense 18:61816264-61816264 - CSCC-27-T COSM4471477 c.171C>T p.V57V Substitution - coding silent 18:61816293-61816293 - CHC205T COSM1389397 c.183T>C p.P61P Substitution - coding silent 18:61816281-61816281 - TCGA-39-5030-01 COSM709187 c.107C>T p.S36L Substitution - Missense 18:61816357-61816357 - TCGA-EE-A29N-06 COSM2881315 c.283C>T p.P95S Substitution - Missense 18:61816181-61816181 - TCGA-FS-A4F5-06 COSM3526890 c.597G>A p.V199V Substitution - coding silent 18:61815867-61815867 - TCGA-ER-A19K-01 COSM2881315 c.283C>T p.P95S Substitution - Missense 18:61816181-61816181 - YUGAFFE COSM1264352 c.550G>A p.G184S Substitution - Missense 18:61815914-61815914 - TCGA-DA-A3F8-06 COSM1264352 c.550G>A p.G184S Substitution - Missense 18:61815914-61815914 - TCGA-EE-A29L-06 COSM2881315 c.283C>T p.P95S Substitution - Missense 18:61816181-61816181 - TCGA-GN-A266-06 COSM2881309 c.405C>T p.I135I Substitution - coding silent 18:61816059-61816059 - 438 COSM4434283 c.219G>A p.P73P Substitution - coding silent 18:61816245-61816245 - C086 COSM2881309 c.405C>T p.I135I Substitution - coding silent 18:61816059-61816059 - BD57T COSM989389 c.209C>T p.P70L Substitution - Missense 18:61816255-61816255 - CRC-11T COSM5460537 c.64C>T p.R22W Substitution - Missense 18:61816400-61816400 - TCGA-EE-A29E-06 COSM2881309 c.405C>T p.I135I Substitution - coding silent 18:61816059-61816059 - T2 COSM1389397 c.183T>C p.P61P Substitution - coding silent 18:61816281-61816281 - TCGA-BS-A0UL-01 COSM989389 c.209C>T p.P70L Substitution - Missense 18:61816255-61816255 - ME041T COSM228207 c.288C>A p.S96R Substitution - Missense 18:61816176-61816176 - 2492710 COSM564140 c.473G>A p.R158Q Substitution - Missense 18:61815991-61815991 - TCGA-FS-A1ZA-06 COSM3526893 c.457G>A p.E153K Substitution - Missense 18:61816007-61816007 - YURAY COSM5388327 c.240C>T p.A80A Substitution - coding silent 18:61816224-61816224 - 46M COSM2881315 c.283C>T p.P95S Substitution - Missense 18:61816181-61816181 - CMLPh-013 COSM4424207 c.478G>A p.V160M Substitution - Missense 18:61815986-61815986 - T3118 COSM4722019 c.183delT p.G63fs*71 Deletion - Frameshift 18:61816281-61816281 - TCGA-BS-A0UV-01 COSM989388 c.581C>A p.S194Y Substitution - Missense 18:61815883-61815883 - TCGA-EE-A2GT-06 COSM3526900 c.142G>A p.D48N Substitution - Missense 18:61816322-61816322 - YUFERY COSM5388323 c.547C>T p.L183F Substitution - Missense 18:61815917-61815917 - CH-50-T2 COSM5650845 c.42C>A p.I14I Substitution - coding silent 18:61816422-61816422 - TCGA-43-3920-01 COSM709188 c.399G>T p.V133V Substitution - coding silent 18:61816065-61816065 - STC291 COSM564138 c.304C>T p.L102L Substitution - coding silent 18:61816160-61816160 - TCGA-EE-A2MK-06 COSM3526894 c.354C>T p.G118G Substitution - coding silent 18:61816110-61816110 - LUAD-NYU195 COSM371076 c.70A>T p.R24W Substitution - Missense 18:61816394-61816394 - TCGA-CG-5721-01 COSM4072848 c.432T>C p.G144G Substitution - coding silent 18:61816032-61816032 - TCGA-EE-A2GC-06 COSM3526892 c.460G>A p.E154K Substitution - Missense 18:61816004-61816004 - TCGA-AA-A01T-01 COSM300245 c.16delC p.Q6fs*37 Deletion - Frameshift 18:61816448-61816448 - TCGA-AA-3821-01 COSM294777 c.148C>T p.R50W Substitution - Missense 18:61816316-61816316 - BCB307T COSM4950163 c.372delG p.S125fs*9 Deletion - Frameshift 18:61816092-61816092 - TCGA-DA-A1I8-06 COSM3526899 c.207C>T p.L69L Substitution - coding silent 18:61816257-61816257 - TCGA-BF-A1Q0-01 COSM3526901 c.59G>A p.S20N Substitution - Missense 18:61816405-61816405 - BD124T COSM5493719 c.201G>A p.S67S Substitution - coding silent 18:61816263-61816263 - TCGA-B5-A11E-01 COSM989390 c.10C>T p.L4L Substitution - coding silent 18:61816454-61816454 - TCGA-HE-A5NL-01 COSM3989603 c.328C>G p.R110G Substitution - Missense 18:61816136-61816136 - C467 COSM4442058 c.164G>A p.R55H Substitution - Missense 18:61816300-61816300 - TCGA-FS-A1ZA-06 COSM2881315 c.283C>T p.P95S Substitution - Missense 18:61816181-61816181 - TCGA-06-2565 COSM2153001 c.25_26delCT p.L9fs*129 Deletion - Frameshift 18:61816438-61816439 - TCGA-D3-A51T-06 COSM3526902 c.16C>T p.Q6* Substitution - Nonsense 18:61816448-61816448 - T2940 COSM294777 c.148C>T p.R50W Substitution - Missense 18:61816316-61816316 - 587342 COSM1223915 c.343G>A p.G115R Substitution - Missense 18:61816121-61816121 - TCGA-EE-A2GO-06 COSM3526903 c.15C>T p.S5S Substitution - coding silent 18:61816449-61816449 - TCGA-GN-A269-01 COSM3526904 c.4G>A p.E2K Substitution - Missense 18:61816460-61816460 - YUFERY COSM5388324 c.546C>T p.L182L Substitution - coding silent 18:61815918-61815918 - TCGA-B9-5156-01 COSM3989604 c.120G>T p.Q40H Substitution - Missense 18:61816344-61816344 - TCGA-B5-A0JY-01 COSM27213 c.200C>T p.S67L Substitution - Missense 18:61816264-61816264 - TCGA-EE-A2GP-06 COSM2881315 c.283C>T p.P95S Substitution - Missense 18:61816181-61816181 - TCGA-D3-A51T-06 COSM2881315 c.283C>T p.P95S Substitution - Missense 18:61816181-61816181 - SC_9001 COSM2881304 c.587G>A p.R196H Substitution - Missense 18:61815877-61815877 - PD5946a COSM5774670 c.9G>A p.T3T Substitution - coding silent 18:61816455-61816455 - YUOMEGA COSM3526893 c.457G>A p.E153K Substitution - Missense 18:61816007-61816007 - C91 COSM4444644 c.256G>A p.E86K Substitution - Missense 18:61816208-61816208 - SC_9003 COSM5571770 c.196G>A p.V66M Substitution - Missense 18:61816268-61816268 - TCGA-FR-A3R1-01 COSM3526891 c.549C>T p.L183L Substitution - coding silent 18:61815915-61815915 - sysucc-834T COSM5485966 c.195C>T p.S65S Substitution - coding silent 18:61816269-61816269 - S00936 COSM314843 c.533T>G p.V178G Substitution - Missense 18:61815931-61815931 - HCC30 COSM1611335 c.329G>T p.R110L Substitution - Missense 18:61816135-61816135 - YUDUTY COSM1711447 c.194C>T p.S65F Substitution - Missense 18:61816270-61816270 - 2492709 COSM564140 c.473G>A p.R158Q Substitution - Missense 18:61815991-61815991 - SNUH_G16_S1 COSM1389397 c.183T>C p.P61P Substitution - coding silent 18:61816281-61816281 - TCGA-AM-5820-01 COSM1389397 c.183T>C p.P61P Substitution - coding silent 18:61816281-61816281 - SC_9100 COSM294777 c.148C>T p.R50W Substitution - Missense 18:61816316-61816316 - S00841 COSM314842 c.268delG p.V90fs*44 Deletion - Frameshift 18:61816196-61816196 - S00841 COSM314842 c.268delG p.V90fs*44 Deletion - Frameshift 18:61816196-61816196 - 2492730 COSM2881322 c.150G>A p.R50R Substitution - coding silent 18:61816314-61816314 - 456 COSM4436106 c.300C>T p.Y100Y Substitution - coding silent 18:61816164-61816164 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.667437;Hs.667439;Hs.667440;Hs.667441;Hs.667442;Hs.667443;Hs.667444;Hs.667445;Hs.667446;Hs.667447;Hs.667448;Hs.667449;Hs.667450;Hs.667451;Hs.667452;Hs.667453;Hs.667454;Hs.667455;Hs.667456;Hs.667457 18q21.33

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - 3-UTRDeletion . c.609+4737delC 18 59478351 HC A C Missense p.V178G c.533T>G 18 59483164 SCLC AG - Frameshift p.L9Afs*129 c.25_26delCT 18 59483671 GBM C A Missense p.K31N c.93G>T 18 59483604 MM C A Synonymous p.L60L c.180G>T 18 59483517 LUAD C A Synonymous p.V133V c.399G>T 18 59483298 LUSC CC TT Missense p.E109K c.324_325delinsAA 18 59483372 CM C - Frameshift p.V90Sfs*44 c.268delG 18 59483429 SCLC C G Missense p.S125T c.374G>C 18 59483323 BLCA C T 5-UTRSNV . c.1-76669G>A 18 59560365 CLL C T Missense p.D116N c.346G>A 18 59483351 CM C T Missense p.D48N c.142G>A 18 59483555 CM C T Missense p.D72N c.214G>A 18 59483483 CM C T Missense p.E153K c.457G>A 18 59483240 CM C T Missense p.E154K c.460G>A 18 59483237 CM C T Missense p.E2K c.4G>A 18 59483693 CM C T Missense p.G144S c.430G>A 18 59483267 LUAD C T Missense p.G184S c.550G>A 18 59483147 CM C T Missense p.G184S c.550G>A 18 59483147 ESCA C T Missense p.R158Q c.473G>A 18 59483224 LUAD C T Missense p.S20N c.59G>A 18 59483638 CM C T Synonymous p.V161V c.483G>A 18 59483214 CM C T Synonymous p.V37V c.111G>A 18 59483586 LUAD G A 3-UTRSNV . c.609+68C>T 18 59483020 CM G A Missense p.P21S c.61C>T 18 59483636 CM G A Missense p.P70L c.209C>T 18 59483488 UCEC G A Missense p.P95S c.283C>T 18 59483414 CM G A Missense p.S36L c.107C>T 18 59483590 LUSC G A Missense p.S85F c.254C>T 18 59483443 CM G A Synonymous p.F181F c.543C>T 18 59483154 CM G A Synonymous p.G118G c.354C>T 18 59483343 CM G A Synonymous p.I79I c.237C>T 18 59483460 LUAD G A Synonymous p.L102L c.304C>T 18 59483393 LUAD G A Synonymous p.L69L c.207C>T 18 59483490 CM G A Synonymous p.S5S c.15C>T 18 59483682 CM G A Synonymous p.S85S c.255C>T 18 59483442 STAD G - Frameshift p.Q6Rfs*37 c.16delC 18 59483681 COREAD G T 5-UTRSNV . c.1-32C>A 18 59483728 ESCA G T Missense p.S96R c.288C>A 18 59483409 CM T A Missense p.Q143H c.429A>T 18 59483268 CLL T C 3-UTRSNV . c.609+18A>G 18 59483070 CM