Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 6 34558353 34558353 + Missense_Mutation SNP C C T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr6:34558353C>T c.886G>A c.(886-888)Ggc>Agc p.G296S BLCA 6 34574587 34574587 + Silent SNP C C G TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 g.chr6:34574587C>G c.606G>C c.(604-606)ccG>ccC p.P202P BLCA 6 34664291 34664291 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr6:34664291C>T c.90G>A c.(88-90)gaG>gaA p.E30E BLCA 6 34664339 34664339 + Silent SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr6:34664339C>T c.42G>A c.(40-42)caG>caA p.Q14Q COAD 6 34574606 34574606 + Missense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr6:34574606G>A c.587C>T c.(586-588)aCg>aTg p.T196M COAD 6 34614459 34614459 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr6:34614459C>T c.430G>A c.(430-432)Gtc>Atc p.V144I COAD 6 34622482 34622482 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:34622482A>G c.233T>C c.(232-234)gTt>gCt p.V78A COAD 6 34664283 34664283 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:34664283C>A c.98G>T c.(97-99)aGg>aTg p.R33M COADREAD 6 34574605 34574605 + Silent SNP C C A TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr6:34574605C>A c.588G>T c.(586-588)acG>acT p.T196T COADREAD 6 34574606 34574606 + Missense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr6:34574606G>A c.587C>T c.(586-588)aCg>aTg p.T196M COADREAD 6 34614459 34614459 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr6:34614459C>T c.430G>A c.(430-432)Gtc>Atc p.V144I COADREAD 6 34622482 34622482 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:34622482A>G c.233T>C c.(232-234)gTt>gCt p.V78A COADREAD 6 34664283 34664283 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:34664283C>A c.98G>T c.(97-99)aGg>aTg p.R33M ESCA 6 34574418 34574418 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 g.chr6:34574418G>C c.775C>G c.(775-777)Caa>Gaa p.Q259E ESCA 6 34574629 34574629 + Silent SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 g.chr6:34574629C>T c.564G>A c.(562-564)acG>acA p.T188T HNSC 6 34574664 34574664 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr6:34574664G>A c.529C>T c.(529-531)Ctc>Ttc p.L177F HNSC 6 34614452 34614452 + Missense_Mutation SNP A A C TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 g.chr6:34614452A>C c.437T>G c.(436-438)aTg>aGg p.M146R HNSC 6 34614570 34614570 + Missense_Mutation SNP C C G TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr6:34614570C>G c.319G>C c.(319-321)Gag>Cag p.E107Q KIPAN 6 34664262 34664262 + Missense_Mutation SNP T T C TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr6:34664262T>C c.119A>G c.(118-120)aAt>aGt p.N40S KIRP 6 34664262 34664262 + Missense_Mutation SNP T T C TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr6:34664262T>C c.119A>G c.(118-120)aAt>aGt p.N40S LAML 6 34622530 34622530 + Missense_Mutation SNP T T C TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 g.chr6:34622530T>C c.185A>G c.(184-186)tAt>tGt p.Y62C LIHC 6 34574641 34574641 + Silent SNP A A C TCGA-BC-A110-01A-11D-A12Z-10 TCGA-BC-A110-11A-11D-A12Z-10 g.chr6:34574641A>C c.552T>G c.(550-552)ctT>ctG p.L184L LIHC 6 34574641 34574641 + Silent SNP A A C TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr6:34574641A>C c.552T>G c.(550-552)ctT>ctG p.L184L LUAD 6 34574444 34574444 + Nonsense_Mutation SNP C C T TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr6:34574444C>T c.749G>A c.(748-750)tGg>tAg p.W250* LUAD 6 34614502 34614502 + Silent SNP C C G TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr6:34614502C>G c.387G>C c.(385-387)gtG>gtC p.V129V LUAD 6 34614531 34614531 + Nonsense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr6:34614531C>A c.358G>T c.(358-360)Gga>Tga p.G120* LUAD 6 34614553 34614553 + Silent SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr6:34614553C>A c.336G>T c.(334-336)ggG>ggT p.G112G LUSC 6 34574439 34574439 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr6:34574439G>A c.754C>T c.(754-756)Cct>Tct p.P252S OV 6 34574605 34574605 + Silent SNP C C A TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 g.chr6:34574605C>A c.588G>T c.(586-588)acG>acT p.T196T PAAD 6 34574651 34574651 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:34574651A>G c.542T>C c.(541-543)gTg>gCg p.V181A READ 6 34574605 34574605 + Silent SNP C C A TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr6:34574605C>A c.588G>T c.(586-588)acG>acT p.T196T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 6 34664293 34664293 single base substitution C T missense_variant E30K 88G>A BLCA-US 6 34574587 34574587 single base substitution C G synonymous_variant P128P 384G>C BLCA-US 6 34574587 34574587 single base substitution C G synonymous_variant P136P 408G>C BLCA-US 6 34574587 34574587 single base substitution C G synonymous_variant P202P 606G>C BLCA-US 6 34664291 34664291 single base substitution C T synonymous_variant E30E 90G>A BRCA-EU 6 34550994 34550994 single base substitution C T downstream_gene_variant BRCA-EU 6 34552775 34552775 single base substitution G A downstream_gene_variant BRCA-EU 6 34552860 34552860 single base substitution A G downstream_gene_variant BRCA-EU 6 34554644 34554644 single base substitution G A downstream_gene_variant BRCA-EU 6 34557674 34557674 single base substitution G C 3_prime_UTR_variant BRCA-EU 6 34557674 34557674 single base substitution G C downstream_gene_variant BRCA-EU 6 34559155 34559155 single base substitution C T intron_variant BRCA-EU 6 34559487 34559487 single base substitution C A intron_variant BRCA-EU 6 34560292 34560292 deletion of <=200bp G - intron_variant BRCA-EU 6 34561360 34561360 single base substitution C G intron_variant BRCA-EU 6 34561749 34561749 single base substitution C G intron_variant BRCA-EU 6 34561825 34561825 single base substitution G C intron_variant BRCA-EU 6 34563607 34563607 single base substitution G A intron_variant BRCA-EU 6 34564891 34564891 insertion of <=200bp - T intron_variant BRCA-EU 6 34565354 34565354 single base substitution C A intron_variant BRCA-EU 6 34566500 34566500 single base substitution C T intron_variant BRCA-EU 6 34567332 34567332 deletion of <=200bp A - intron_variant BRCA-EU 6 34567332 34567332 single base substitution A T intron_variant BRCA-EU 6 34567701 34567701 single base substitution C A intron_variant BRCA-EU 6 34568235 34568235 single base substitution T C intron_variant BRCA-EU 6 34568772 34568772 single base substitution A G intron_variant BRCA-EU 6 34568948 34568948 single base substitution C T intron_variant BRCA-EU 6 34569382 34569382 single base substitution C G intron_variant BRCA-EU 6 34569432 34569432 single base substitution C G intron_variant BRCA-EU 6 34569731 34569731 single base substitution G A intron_variant BRCA-EU 6 34571377 34571377 single base substitution C T intron_variant BRCA-EU 6 34571936 34571936 deletion of <=200bp A - intron_variant BRCA-EU 6 34572811 34572811 single base substitution C T intron_variant BRCA-EU 6 34573596 34573596 single base substitution T C intron_variant BRCA-EU 6 34575359 34575359 single base substitution G A intron_variant BRCA-EU 6 34577790 34577790 single base substitution T C intron_variant BRCA-EU 6 34579255 34579255 single base substitution T C intron_variant BRCA-EU 6 34580190 34580190 deletion of <=200bp A - intron_variant BRCA-EU 6 34580630 34580630 single base substitution T G intron_variant BRCA-EU 6 34584858 34584858 single base substitution C G intron_variant BRCA-EU 6 34588011 34588011 single base substitution C T intron_variant BRCA-EU 6 34588595 34588595 single base substitution G C intron_variant BRCA-EU 6 34588810 34588810 single base substitution C T intron_variant BRCA-EU 6 34589242 34589242 single base substitution C A intron_variant BRCA-EU 6 34589401 34589401 single base substitution C T intron_variant BRCA-EU 6 34590186 34590186 single base substitution G A intron_variant BRCA-EU 6 34590258 34590258 single base substitution G A intron_variant BRCA-EU 6 34590514 34590514 single base substitution C G intron_variant BRCA-EU 6 34592767 34592767 single base substitution C G intron_variant BRCA-EU 6 34594450 34594450 single base substitution C T intron_variant BRCA-EU 6 34596223 34596223 single base substitution C G intron_variant BRCA-EU 6 34597070 34597070 single base substitution C G intron_variant BRCA-EU 6 34597412 34597412 single base substitution G A intron_variant BRCA-EU 6 34597717 34597717 single base substitution A G intron_variant BRCA-EU 6 34598061 34598061 deletion of <=200bp A - intron_variant BRCA-EU 6 34598540 34598540 single base substitution C T intron_variant BRCA-EU 6 34598773 34598773 single base substitution C G intron_variant BRCA-EU 6 34598912 34598912 single base substitution C T intron_variant BRCA-EU 6 34599724 34599724 single base substitution C G intron_variant BRCA-EU 6 34602077 34602077 deletion of <=200bp A - intron_variant BRCA-EU 6 34606727 34606727 single base substitution G C intron_variant BRCA-EU 6 34607033 34607033 single base substitution C T intron_variant BRCA-EU 6 34607672 34607672 single base substitution G A intron_variant BRCA-EU 6 34608053 34608053 single base substitution C T intron_variant BRCA-EU 6 34608218 34608218 single base substitution G A intron_variant BRCA-EU 6 34608569 34608569 single base substitution C A intron_variant BRCA-EU 6 34608749 34608749 single base substitution G C intron_variant BRCA-EU 6 34609640 34609640 insertion of <=200bp - A intron_variant BRCA-EU 6 34609725 34609725 single base substitution C T intron_variant BRCA-EU 6 34611337 34611338 deletion of <=200bp AA - intron_variant BRCA-EU 6 34611670 34611670 single base substitution G A intron_variant BRCA-EU 6 34613343 34613343 single base substitution C T intron_variant BRCA-EU 6 34615064 34615064 single base substitution A T intron_variant BRCA-EU 6 34615852 34615852 single base substitution A T intron_variant BRCA-EU 6 34620617 34620617 single base substitution C A intron_variant BRCA-EU 6 34621124 34621124 single base substitution C T intron_variant BRCA-EU 6 34623659 34623659 deletion of <=200bp A - intron_variant BRCA-EU 6 34623882 34623882 single base substitution G A intron_variant BRCA-EU 6 34624270 34624270 single base substitution T A intron_variant BRCA-EU 6 34624436 34624436 single base substitution A G intron_variant BRCA-EU 6 34624750 34624750 single base substitution C G intron_variant BRCA-EU 6 34626210 34626210 single base substitution A G intron_variant BRCA-EU 6 34627582 34627582 single base substitution G A intron_variant BRCA-EU 6 34629319 34629319 single base substitution G C intron_variant BRCA-EU 6 34630183 34630183 single base substitution C T intron_variant BRCA-EU 6 34631868 34631868 single base substitution G C intron_variant BRCA-EU 6 34632248 34632248 single base substitution C T intron_variant BRCA-EU 6 34632668 34632668 single base substitution C G intron_variant BRCA-EU 6 34632818 34632818 single base substitution G A intron_variant BRCA-EU 6 34633226 34633226 single base substitution G C intron_variant BRCA-EU 6 34633818 34633818 single base substitution A G intron_variant BRCA-EU 6 34634233 34634233 single base substitution G A intron_variant BRCA-EU 6 34634294 34634294 single base substitution C T intron_variant BRCA-EU 6 34634342 34634342 deletion of <=200bp A - intron_variant BRCA-EU 6 34635697 34635697 single base substitution G T intron_variant BRCA-EU 6 34635899 34635899 deletion of <=200bp A - intron_variant BRCA-EU 6 34636787 34636787 single base substitution A T intron_variant BRCA-EU 6 34637331 34637331 single base substitution C T intron_variant BRCA-EU 6 34640016 34640016 single base substitution G C intron_variant BRCA-EU 6 34640016 34640016 single base substitution G C upstream_gene_variant BRCA-EU 6 34640064 34640064 single base substitution G A intron_variant BRCA-EU 6 34640064 34640064 single base substitution G A upstream_gene_variant BRCA-EU 6 34640641 34640641 single base substitution G C intron_variant BRCA-EU 6 34640641 34640641 single base substitution G C upstream_gene_variant BRCA-EU 6 34641315 34641315 single base substitution C G intron_variant BRCA-EU 6 34641315 34641315 single base substitution C G upstream_gene_variant BRCA-EU 6 34642045 34642045 single base substitution T C intron_variant BRCA-EU 6 34642045 34642045 single base substitution T C upstream_gene_variant BRCA-EU 6 34642578 34642578 single base substitution C G intron_variant BRCA-EU 6 34642578 34642578 single base substitution C G upstream_gene_variant BRCA-EU 6 34642702 34642702 single base substitution T A intron_variant BRCA-EU 6 34642702 34642702 single base substitution T A upstream_gene_variant BRCA-EU 6 34644372 34644372 single base substitution T C intron_variant BRCA-EU 6 34644372 34644372 single base substitution T C upstream_gene_variant BRCA-EU 6 34644373 34644373 single base substitution G A intron_variant BRCA-EU 6 34644373 34644373 single base substitution G A upstream_gene_variant BRCA-EU 6 34644375 34644375 single base substitution G A intron_variant BRCA-EU 6 34644375 34644375 single base substitution G A upstream_gene_variant BRCA-EU 6 34644381 34644381 single base substitution G A intron_variant BRCA-EU 6 34644381 34644381 single base substitution G A upstream_gene_variant BRCA-EU 6 34644383 34644383 single base substitution G T intron_variant BRCA-EU 6 34644383 34644383 single base substitution G T upstream_gene_variant BRCA-EU 6 34645096 34645096 single base substitution G A intron_variant BRCA-EU 6 34646034 34646034 single base substitution T C intron_variant BRCA-EU 6 34647225 34647225 single base substitution C T intron_variant BRCA-EU 6 34647341 34647341 single base substitution G A intron_variant BRCA-EU 6 34647359 34647359 single base substitution T G intron_variant BRCA-EU 6 34647895 34647895 single base substitution A G intron_variant BRCA-EU 6 34649038 34649038 deletion of <=200bp A - intron_variant BRCA-EU 6 34649107 34649107 single base substitution C G intron_variant BRCA-EU 6 34649996 34649996 single base substitution C T intron_variant BRCA-EU 6 34651415 34651415 single base substitution T C intron_variant BRCA-EU 6 34652169 34652169 single base substitution A G intron_variant BRCA-EU 6 34653194 34653194 single base substitution G C intron_variant BRCA-EU 6 34653584 34653584 single base substitution G C intron_variant BRCA-EU 6 34654052 34654052 single base substitution C T intron_variant BRCA-EU 6 34655009 34655009 single base substitution G A intron_variant BRCA-EU 6 34656488 34656488 single base substitution G A intron_variant BRCA-EU 6 34657014 34657014 single base substitution G T intron_variant BRCA-EU 6 34657614 34657614 single base substitution C G intron_variant BRCA-EU 6 34658451 34658451 single base substitution A C intron_variant BRCA-EU 6 34658799 34658799 single base substitution C G intron_variant BRCA-EU 6 34658810 34658810 single base substitution C T intron_variant BRCA-EU 6 34660417 34660417 insertion of <=200bp - A intron_variant BRCA-EU 6 34660455 34660455 single base substitution T C intron_variant BRCA-EU 6 34661140 34661140 deletion of <=200bp T - intron_variant BRCA-EU 6 34661831 34661831 single base substitution C T intron_variant BRCA-EU 6 34662121 34662121 single base substitution C A intron_variant BRCA-EU 6 34663358 34663358 single base substitution C G intron_variant BRCA-EU 6 34665070 34665070 single base substitution C G upstream_gene_variant BRCA-EU 6 34667102 34667102 single base substitution G A upstream_gene_variant BRCA-EU 6 34668500 34668500 single base substitution G C upstream_gene_variant BRCA-EU 6 34669190 34669190 single base substitution T C upstream_gene_variant BRCA-FR 6 34554644 34554644 single base substitution G A downstream_gene_variant BRCA-FR 6 34563607 34563607 single base substitution G A intron_variant BRCA-FR 6 34566500 34566500 single base substitution C T intron_variant BRCA-FR 6 34567701 34567701 single base substitution C A intron_variant BRCA-FR 6 34569201 34569201 single base substitution G A intron_variant BRCA-FR 6 34570713 34570713 single base substitution A T intron_variant BRCA-FR 6 34581116 34581116 single base substitution C T intron_variant BRCA-FR 6 34589242 34589242 single base substitution C A intron_variant BRCA-FR 6 34597070 34597070 single base substitution C G intron_variant BRCA-FR 6 34606625 34606625 single base substitution C G intron_variant BRCA-FR 6 34608749 34608749 single base substitution G C intron_variant BRCA-FR 6 34626210 34626210 single base substitution A G intron_variant BRCA-FR 6 34631868 34631868 single base substitution G C intron_variant BRCA-FR 6 34632208 34632208 single base substitution G C intron_variant BRCA-FR 6 34633092 34633092 single base substitution T A intron_variant BRCA-FR 6 34633226 34633226 single base substitution G C intron_variant BRCA-FR 6 34634294 34634294 single base substitution C T intron_variant BRCA-FR 6 34642045 34642045 single base substitution T C intron_variant BRCA-FR 6 34642045 34642045 single base substitution T C upstream_gene_variant BRCA-FR 6 34648432 34648432 single base substitution G A intron_variant BRCA-FR 6 34651560 34651560 single base substitution C T intron_variant BRCA-FR 6 34653584 34653584 single base substitution G C intron_variant BRCA-FR 6 34658810 34658810 single base substitution C T intron_variant BRCA-FR 6 34664073 34664073 single base substitution C T intron_variant BRCA-UK 6 34552400 34552400 single base substitution C G downstream_gene_variant BRCA-UK 6 34561749 34561749 single base substitution C G intron_variant BRCA-UK 6 34569731 34569731 single base substitution G A intron_variant BRCA-UK 6 34580630 34580630 single base substitution T G intron_variant BRCA-UK 6 34588605 34588605 single base substitution C G intron_variant BRCA-UK 6 34608218 34608218 single base substitution G A intron_variant BRCA-UK 6 34620962 34620962 single base substitution C A intron_variant BRCA-UK 6 34624270 34624270 single base substitution T A intron_variant BRCA-UK 6 34637331 34637331 single base substitution C T intron_variant BRCA-UK 6 34653372 34653372 single base substitution C T intron_variant BTCA-JP 6 34574488 34574488 single base substitution G A synonymous_variant F161F 483C>T BTCA-JP 6 34574488 34574488 single base substitution G A synonymous_variant F169F 507C>T BTCA-JP 6 34574488 34574488 single base substitution G A synonymous_variant F235F 705C>T BTCA-JP 6 34574553 34574553 deletion of <=200bp C - frameshift_variant A140 BTCA-JP 6 34574553 34574553 deletion of <=200bp C - frameshift_variant A148 BTCA-JP 6 34574553 34574553 deletion of <=200bp C - frameshift_variant A214 BTCA-JP 6 34664437 34664437 single base substitution G A 5_prime_UTR_variant CLLE-ES 6 34562847 34562847 single base substitution T C intron_variant CLLE-ES 6 34591963 34591963 single base substitution A T intron_variant CLLE-ES 6 34623749 34623749 single base substitution C T intron_variant CLLE-ES 6 34657076 34657076 single base substitution A T intron_variant COAD-US 6 34614459 34614459 single base substitution C T intron_variant COAD-US 6 34614459 34614459 single base substitution C T missense_variant V144I 430G>A COAD-US 6 34614459 34614459 single base substitution C T missense_variant V70I 208G>A COAD-US 6 34622482 34622482 single base substitution A G missense_variant V4A 11T>C COAD-US 6 34622482 34622482 single base substitution A G missense_variant V78A 233T>C COCA-CN 6 34550350 34550350 single base substitution G A downstream_gene_variant COCA-CN 6 34573095 34573095 single base substitution C A intron_variant COCA-CN 6 34578837 34578837 single base substitution T C intron_variant COCA-CN 6 34580939 34580939 single base substitution C T intron_variant COCA-CN 6 34603350 34603350 single base substitution G A intron_variant COCA-CN 6 34605644 34605644 single base substitution T C intron_variant COCA-CN 6 34605647 34605647 single base substitution T C intron_variant COCA-CN 6 34615855 34615855 single base substitution C T intron_variant COCA-CN 6 34650040 34650040 single base substitution T G intron_variant COCA-CN 6 34669138 34669138 single base substitution T G upstream_gene_variant COCA-CN 6 34669149 34669149 single base substitution T C upstream_gene_variant EOPC-DE 6 34626065 34626065 single base substitution G A intron_variant ESAD-UK 6 34552695 34552695 single base substitution C T downstream_gene_variant ESAD-UK 6 34554870 34554870 single base substitution G T downstream_gene_variant ESAD-UK 6 34554885 34554885 single base substitution T C downstream_gene_variant ESAD-UK 6 34554937 34554937 single base substitution T C downstream_gene_variant ESAD-UK 6 34555339 34555339 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 34555339 34555339 single base substitution G A downstream_gene_variant ESAD-UK 6 34560292 34560292 insertion of <=200bp - G intron_variant ESAD-UK 6 34561722 34561722 single base substitution G A intron_variant ESAD-UK 6 34563163 34563163 single base substitution C T intron_variant ESAD-UK 6 34564381 34564381 single base substitution G A intron_variant ESAD-UK 6 34564909 34564909 single base substitution G A intron_variant ESAD-UK 6 34567224 34567224 single base substitution T C intron_variant ESAD-UK 6 34570193 34570193 deletion of <=200bp T - intron_variant ESAD-UK 6 34570771 34570771 single base substitution C T intron_variant ESAD-UK 6 34572105 34572105 single base substitution A C intron_variant ESAD-UK 6 34575651 34575651 single base substitution C T intron_variant ESAD-UK 6 34576216 34576216 single base substitution A G intron_variant ESAD-UK 6 34577962 34577962 deletion of <=200bp A - intron_variant ESAD-UK 6 34582044 34582044 deletion of <=200bp A - intron_variant ESAD-UK 6 34582219 34582219 single base substitution A T intron_variant ESAD-UK 6 34583228 34583228 single base substitution C T intron_variant ESAD-UK 6 34584808 34584808 single base substitution C G intron_variant ESAD-UK 6 34584878 34584878 single base substitution G A intron_variant ESAD-UK 6 34587070 34587070 insertion of <=200bp - AT intron_variant ESAD-UK 6 34587460 34587460 single base substitution G A intron_variant ESAD-UK 6 34589302 34589302 single base substitution A T intron_variant ESAD-UK 6 34589697 34589697 single base substitution G C intron_variant ESAD-UK 6 34594075 34594075 single base substitution A G intron_variant ESAD-UK 6 34594505 34594505 single base substitution C T intron_variant ESAD-UK 6 34595383 34595383 single base substitution C A intron_variant ESAD-UK 6 34601943 34601943 single base substitution C T intron_variant ESAD-UK 6 34603066 34603066 single base substitution G T intron_variant ESAD-UK 6 34603661 34603661 single base substitution A C intron_variant ESAD-UK 6 34604878 34604878 single base substitution C T intron_variant ESAD-UK 6 34607105 34607105 single base substitution G A intron_variant ESAD-UK 6 34608876 34608876 single base substitution A C intron_variant ESAD-UK 6 34611802 34611802 deletion of <=200bp T - intron_variant ESAD-UK 6 34614165 34614165 single base substitution G A intron_variant ESAD-UK 6 34615599 34615599 single base substitution C A intron_variant ESAD-UK 6 34616307 34616307 single base substitution A C intron_variant ESAD-UK 6 34618171 34618174 deletion of <=200bp TTTA - intron_variant ESAD-UK 6 34619394 34619394 single base substitution G A intron_variant ESAD-UK 6 34622931 34622931 deletion of <=200bp A - intron_variant ESAD-UK 6 34623659 34623659 single base substitution A T intron_variant ESAD-UK 6 34623838 34623838 single base substitution G A intron_variant ESAD-UK 6 34624164 34624164 single base substitution C T intron_variant ESAD-UK 6 34624856 34624856 single base substitution A T intron_variant ESAD-UK 6 34624994 34624994 single base substitution G A intron_variant ESAD-UK 6 34631308 34631308 single base substitution G C intron_variant ESAD-UK 6 34631850 34631850 single base substitution G C intron_variant ESAD-UK 6 34634179 34634179 single base substitution A C intron_variant ESAD-UK 6 34634764 34634764 single base substitution A G intron_variant ESAD-UK 6 34637757 34637757 single base substitution C T intron_variant ESAD-UK 6 34640328 34640328 insertion of <=200bp - A intron_variant ESAD-UK 6 34640328 34640328 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 34640335 34640335 single base substitution A T intron_variant ESAD-UK 6 34640335 34640335 single base substitution A T upstream_gene_variant ESAD-UK 6 34640336 34640336 deletion of <=200bp T - intron_variant ESAD-UK 6 34640336 34640336 deletion of <=200bp T - upstream_gene_variant ESAD-UK 6 34641985 34641985 single base substitution G T intron_variant ESAD-UK 6 34641985 34641985 single base substitution G T upstream_gene_variant ESAD-UK 6 34644142 34644142 single base substitution C T intron_variant ESAD-UK 6 34644142 34644142 single base substitution C T upstream_gene_variant ESAD-UK 6 34645504 34645504 single base substitution T C intron_variant ESAD-UK 6 34646402 34646402 single base substitution A C intron_variant ESAD-UK 6 34647000 34647000 single base substitution A T intron_variant ESAD-UK 6 34648543 34648543 deletion of <=200bp T - intron_variant ESAD-UK 6 34650093 34650093 insertion of <=200bp - G intron_variant ESAD-UK 6 34650487 34650487 single base substitution A G intron_variant ESAD-UK 6 34650498 34650498 single base substitution G A intron_variant ESAD-UK 6 34650612 34650612 single base substitution C T intron_variant ESAD-UK 6 34651479 34651479 single base substitution C T intron_variant ESAD-UK 6 34652623 34652623 single base substitution C T intron_variant ESAD-UK 6 34653504 34653504 deletion of <=200bp T - intron_variant ESAD-UK 6 34653842 34653842 insertion of <=200bp - C intron_variant ESAD-UK 6 34653914 34653914 single base substitution C A intron_variant ESAD-UK 6 34655342 34655342 single base substitution G A intron_variant ESAD-UK 6 34656630 34656630 single base substitution C T intron_variant ESAD-UK 6 34656633 34656633 single base substitution G A intron_variant ESAD-UK 6 34660750 34660755 deletion of <=200bp GAGGCT - intron_variant ESAD-UK 6 34661726 34661726 single base substitution G A intron_variant ESAD-UK 6 34663497 34663502 deletion of <=200bp CTTTTC - intron_variant ESAD-UK 6 34664847 34664847 single base substitution C A upstream_gene_variant ESAD-UK 6 34667286 34667286 single base substitution G A upstream_gene_variant ESAD-UK 6 34667418 34667418 single base substitution C T upstream_gene_variant ESAD-UK 6 34667511 34667511 single base substitution A T upstream_gene_variant ESAD-UK 6 34668028 34668028 single base substitution C T upstream_gene_variant ESAD-UK 6 34668716 34668716 single base substitution G A upstream_gene_variant KIRP-US 6 34664262 34664262 single base substitution T C missense_variant N40S 119A>G LAML-KR 6 34573039 34573039 single base substitution C T intron_variant LAML-KR 6 34610848 34610848 single base substitution A T intron_variant LAML-KR 6 34629795 34629795 single base substitution G A intron_variant LICA-FR 6 34564841 34564841 single base substitution C T intron_variant LICA-FR 6 34568641 34568641 single base substitution C T intron_variant LICA-FR 6 34577006 34577006 single base substitution C T intron_variant LICA-FR 6 34595564 34595564 single base substitution T A intron_variant LICA-FR 6 34596360 34596360 single base substitution C T intron_variant LICA-FR 6 34600460 34600461 deletion of <=200bp TT - intron_variant LICA-FR 6 34605621 34605621 insertion of <=200bp - TGCTGCTGC intron_variant LICA-FR 6 34605642 34605642 insertion of <=200bp - TGTTGT intron_variant LICA-FR 6 34608856 34608856 insertion of <=200bp - A intron_variant LICA-FR 6 34608856 34608857 deletion of <=200bp AA - intron_variant LICA-FR 6 34621748 34621748 deletion of <=200bp A - intron_variant LICA-FR 6 34624013 34624013 insertion of <=200bp - A intron_variant LICA-FR 6 34628632 34628632 single base substitution A T intron_variant LICA-FR 6 34630038 34630038 single base substitution G A intron_variant LICA-FR 6 34633977 34633977 single base substitution T C intron_variant LICA-FR 6 34645359 34645359 single base substitution T C intron_variant LICA-FR 6 34662828 34662828 insertion of <=200bp - A intron_variant LICA-FR 6 34667421 34667421 single base substitution G A upstream_gene_variant LIHC-US 6 34574641 34574641 single base substitution A C synonymous_variant L110L 330T>G LIHC-US 6 34574641 34574641 single base substitution A C synonymous_variant L118L 354T>G LIHC-US 6 34574641 34574641 single base substitution A C synonymous_variant L184L 552T>G LINC-JP 6 34561340 34561340 single base substitution T C intron_variant LINC-JP 6 34574384 34574384 single base substitution T C missense_variant N196S 587A>G LINC-JP 6 34574384 34574384 single base substitution T C missense_variant N204S 611A>G LINC-JP 6 34574384 34574384 single base substitution T C missense_variant N270S 809A>G LINC-JP 6 34596906 34596906 single base substitution T C intron_variant LINC-JP 6 34609638 34609638 single base substitution C G intron_variant LINC-JP 6 34612870 34612870 single base substitution G T intron_variant LINC-JP 6 34622227 34622227 single base substitution G C intron_variant LINC-JP 6 34622516 34622516 single base substitution T A 5_prime_UTR_variant LINC-JP 6 34622516 34622516 single base substitution T A missense_variant S67C 199A>T LINC-JP 6 34645931 34645931 single base substitution T G intron_variant LINC-JP 6 34655489 34655489 single base substitution T A intron_variant LINC-JP 6 34662012 34662012 single base substitution G T intron_variant LINC-JP 6 34662019 34662019 single base substitution T C intron_variant LINC-JP 6 34669138 34669138 single base substitution T G upstream_gene_variant LIRI-JP 6 34553683 34553683 single base substitution G A downstream_gene_variant LIRI-JP 6 34558106 34558106 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 34558106 34558106 single base substitution T C downstream_gene_variant LIRI-JP 6 34559849 34559849 deletion of <=200bp C - intron_variant LIRI-JP 6 34559866 34559866 single base substitution T A intron_variant LIRI-JP 6 34560198 34560198 single base substitution T C intron_variant LIRI-JP 6 34561125 34561125 single base substitution T C intron_variant LIRI-JP 6 34561517 34561517 single base substitution C T intron_variant LIRI-JP 6 34564102 34564102 single base substitution T A intron_variant LIRI-JP 6 34564363 34564363 single base substitution T C intron_variant LIRI-JP 6 34568856 34568856 single base substitution A T intron_variant LIRI-JP 6 34569607 34569607 insertion of <=200bp - T intron_variant LIRI-JP 6 34569620 34569620 single base substitution C T intron_variant LIRI-JP 6 34570752 34570753 deletion of <=200bp AT - intron_variant LIRI-JP 6 34570756 34570756 single base substitution T C intron_variant LIRI-JP 6 34574118 34574118 single base substitution T C intron_variant LIRI-JP 6 34575176 34575176 single base substitution C T intron_variant LIRI-JP 6 34576138 34576138 single base substitution T C intron_variant LIRI-JP 6 34576141 34576141 single base substitution C T intron_variant LIRI-JP 6 34577438 34577438 single base substitution A T intron_variant LIRI-JP 6 34579247 34579247 single base substitution C G intron_variant LIRI-JP 6 34579271 34579271 single base substitution T G intron_variant LIRI-JP 6 34581560 34581560 single base substitution T C intron_variant LIRI-JP 6 34582897 34582897 single base substitution T C intron_variant LIRI-JP 6 34583094 34583094 single base substitution C T intron_variant LIRI-JP 6 34583888 34583888 single base substitution A G intron_variant LIRI-JP 6 34585064 34585064 single base substitution T C intron_variant LIRI-JP 6 34587840 34587840 single base substitution T C intron_variant LIRI-JP 6 34589501 34589501 single base substitution T C intron_variant LIRI-JP 6 34593546 34593546 single base substitution T A intron_variant LIRI-JP 6 34593831 34593831 single base substitution G T intron_variant LIRI-JP 6 34600593 34600593 single base substitution C T intron_variant LIRI-JP 6 34600725 34600725 single base substitution T C intron_variant LIRI-JP 6 34602897 34602902 deletion of <=200bp AAGAGA - intron_variant LIRI-JP 6 34604949 34604949 single base substitution C A intron_variant LIRI-JP 6 34612384 34612384 single base substitution T C intron_variant LIRI-JP 6 34614751 34614751 single base substitution A G intron_variant LIRI-JP 6 34615278 34615278 single base substitution C T intron_variant LIRI-JP 6 34616427 34616427 single base substitution A C intron_variant LIRI-JP 6 34619046 34619046 single base substitution A G intron_variant LIRI-JP 6 34619056 34619056 single base substitution A T intron_variant LIRI-JP 6 34619275 34619275 single base substitution T C intron_variant LIRI-JP 6 34621855 34621855 single base substitution T C intron_variant LIRI-JP 6 34622330 34622330 single base substitution A G intron_variant LIRI-JP 6 34622813 34622813 single base substitution C T intron_variant LIRI-JP 6 34625484 34625484 insertion of <=200bp - A intron_variant LIRI-JP 6 34627533 34627533 single base substitution G C intron_variant LIRI-JP 6 34628529 34628529 single base substitution T C intron_variant LIRI-JP 6 34629418 34629418 single base substitution T C intron_variant LIRI-JP 6 34632208 34632208 single base substitution G A intron_variant LIRI-JP 6 34633345 34633345 single base substitution C T intron_variant LIRI-JP 6 34634076 34634076 single base substitution C A intron_variant LIRI-JP 6 34635365 34635365 single base substitution A G intron_variant LIRI-JP 6 34635373 34635373 single base substitution A G intron_variant LIRI-JP 6 34635599 34635599 single base substitution C T intron_variant LIRI-JP 6 34635873 34635873 single base substitution T C intron_variant LIRI-JP 6 34636112 34636112 single base substitution T C intron_variant LIRI-JP 6 34637189 34637189 single base substitution A C intron_variant LIRI-JP 6 34638741 34638741 single base substitution A C intron_variant LIRI-JP 6 34640110 34640110 single base substitution G T intron_variant LIRI-JP 6 34640110 34640110 single base substitution G T upstream_gene_variant LIRI-JP 6 34643099 34643099 single base substitution A G intron_variant LIRI-JP 6 34643099 34643099 single base substitution A G upstream_gene_variant LIRI-JP 6 34645622 34645622 single base substitution G C intron_variant LIRI-JP 6 34647358 34647358 single base substitution T C intron_variant LIRI-JP 6 34648261 34648261 single base substitution A T intron_variant LIRI-JP 6 34648277 34648277 single base substitution T A intron_variant LIRI-JP 6 34651013 34651013 single base substitution A G intron_variant LIRI-JP 6 34651396 34651396 single base substitution T C intron_variant LIRI-JP 6 34657080 34657080 single base substitution A C intron_variant LIRI-JP 6 34657529 34657529 single base substitution T C intron_variant LIRI-JP 6 34658363 34658363 insertion of <=200bp - A intron_variant LIRI-JP 6 34660577 34660577 single base substitution C T intron_variant LIRI-JP 6 34663048 34663048 single base substitution T G intron_variant LIRI-JP 6 34666239 34666239 single base substitution A G upstream_gene_variant LIRI-JP 6 34666574 34666574 single base substitution T C upstream_gene_variant LIRI-JP 6 34669008 34669008 single base substitution G A upstream_gene_variant LUSC-KR 6 34551624 34551624 single base substitution G C downstream_gene_variant LUSC-KR 6 34556066 34556066 single base substitution G C 3_prime_UTR_variant LUSC-KR 6 34556066 34556066 single base substitution G C downstream_gene_variant LUSC-KR 6 34557246 34557246 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 34557246 34557246 single base substitution C T downstream_gene_variant LUSC-KR 6 34560191 34560191 single base substitution C T intron_variant LUSC-KR 6 34567986 34567986 single base substitution C A intron_variant LUSC-KR 6 34569546 34569546 single base substitution A T intron_variant LUSC-KR 6 34578510 34578510 single base substitution T A intron_variant LUSC-KR 6 34578895 34578895 single base substitution A T intron_variant LUSC-KR 6 34584951 34584951 single base substitution A C intron_variant LUSC-KR 6 34589120 34589120 single base substitution G A intron_variant LUSC-KR 6 34592664 34592664 single base substitution G A intron_variant LUSC-KR 6 34607101 34607101 single base substitution G A intron_variant LUSC-KR 6 34613428 34613428 single base substitution C G intron_variant LUSC-KR 6 34620348 34620348 single base substitution A G intron_variant LUSC-KR 6 34622676 34622676 single base substitution A G intron_variant LUSC-KR 6 34628667 34628667 single base substitution A G intron_variant LUSC-KR 6 34629401 34629401 single base substitution C T intron_variant LUSC-KR 6 34630817 34630817 single base substitution G A intron_variant LUSC-KR 6 34631274 34631274 single base substitution T A intron_variant LUSC-KR 6 34631275 34631275 single base substitution T G intron_variant LUSC-KR 6 34633745 34633745 single base substitution T A intron_variant LUSC-KR 6 34636418 34636418 single base substitution G A intron_variant LUSC-KR 6 34642102 34642102 single base substitution C G intron_variant LUSC-KR 6 34642102 34642102 single base substitution C G upstream_gene_variant LUSC-KR 6 34652986 34652986 single base substitution T C intron_variant LUSC-KR 6 34657111 34657111 single base substitution G A intron_variant LUSC-US 6 34574439 34574439 single base substitution G A missense_variant P178S 532C>T LUSC-US 6 34574439 34574439 single base substitution G A missense_variant P186S 556C>T LUSC-US 6 34574439 34574439 single base substitution G A missense_variant P252S 754C>T MALY-DE 6 34554490 34554490 single base substitution T G downstream_gene_variant MALY-DE 6 34558793 34558793 single base substitution C T intron_variant MALY-DE 6 34561608 34561608 single base substitution G A intron_variant MALY-DE 6 34569156 34569156 single base substitution G A intron_variant MALY-DE 6 34570644 34570644 single base substitution C A intron_variant MALY-DE 6 34574794 34574794 single base substitution T C intron_variant MALY-DE 6 34575419 34575419 single base substitution G C intron_variant MALY-DE 6 34577338 34577338 single base substitution T C intron_variant MALY-DE 6 34582776 34582776 single base substitution T C intron_variant MALY-DE 6 34593274 34593274 single base substitution C T intron_variant MALY-DE 6 34609034 34609034 single base substitution A T intron_variant MALY-DE 6 34617584 34617584 single base substitution C T intron_variant MALY-DE 6 34625877 34625877 single base substitution A G intron_variant MALY-DE 6 34629267 34629267 single base substitution G A intron_variant MALY-DE 6 34631646 34631646 single base substitution T G intron_variant MALY-DE 6 34631810 34631810 single base substitution G A intron_variant MALY-DE 6 34641495 34641495 single base substitution G A intron_variant MALY-DE 6 34641495 34641495 single base substitution G A upstream_gene_variant MALY-DE 6 34642293 34642293 insertion of <=200bp - C intron_variant MALY-DE 6 34642293 34642293 insertion of <=200bp - C upstream_gene_variant MALY-DE 6 34642299 34642303 deletion of <=200bp AATGA - intron_variant MALY-DE 6 34642299 34642303 deletion of <=200bp AATGA - upstream_gene_variant MALY-DE 6 34651242 34651242 single base substitution T C intron_variant MALY-DE 6 34656246 34656246 single base substitution G A intron_variant MALY-DE 6 34665743 34665743 single base substitution A G upstream_gene_variant MALY-DE 6 34669336 34669336 single base substitution T A upstream_gene_variant MELA-AU 6 34550140 34550140 single base substitution G A downstream_gene_variant MELA-AU 6 34550886 34550886 single base substitution G A downstream_gene_variant MELA-AU 6 34551647 34551647 single base substitution C T downstream_gene_variant MELA-AU 6 34551936 34551936 single base substitution G A downstream_gene_variant MELA-AU 6 34552044 34552045 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 6 34552361 34552361 single base substitution C T downstream_gene_variant MELA-AU 6 34552739 34552739 single base substitution C T downstream_gene_variant MELA-AU 6 34553017 34553017 single base substitution G A downstream_gene_variant MELA-AU 6 34553730 34553730 single base substitution G A downstream_gene_variant MELA-AU 6 34554186 34554186 single base substitution G A downstream_gene_variant MELA-AU 6 34554292 34554292 single base substitution G A downstream_gene_variant MELA-AU 6 34554812 34554812 single base substitution G A downstream_gene_variant MELA-AU 6 34555248 34555248 single base substitution G A 3_prime_UTR_variant MELA-AU 6 34555248 34555248 single base substitution G A downstream_gene_variant MELA-AU 6 34555348 34555348 single base substitution G A 3_prime_UTR_variant MELA-AU 6 34555348 34555348 single base substitution G A downstream_gene_variant MELA-AU 6 34555803 34555803 single base substitution G A 3_prime_UTR_variant MELA-AU 6 34555803 34555803 single base substitution G A downstream_gene_variant MELA-AU 6 34555977 34555978 multiple base substitution (>=2bp and <=200bp) GG AT 3_prime_UTR_variant MELA-AU 6 34555977 34555978 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 6 34556011 34556011 single base substitution G A 3_prime_UTR_variant MELA-AU 6 34556011 34556011 single base substitution G A downstream_gene_variant MELA-AU 6 34557300 34557300 single base substitution G A 3_prime_UTR_variant MELA-AU 6 34557300 34557300 single base substitution G A downstream_gene_variant MELA-AU 6 34558225 34558225 single base substitution G A 3_prime_UTR_variant MELA-AU 6 34558225 34558225 single base substitution G A downstream_gene_variant MELA-AU 6 34558606 34558607 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34558909 34558909 single base substitution G A intron_variant MELA-AU 6 34559416 34559416 single base substitution A G intron_variant MELA-AU 6 34560133 34560133 single base substitution T A intron_variant MELA-AU 6 34560268 34560268 single base substitution G A intron_variant MELA-AU 6 34561077 34561077 single base substitution A G intron_variant MELA-AU 6 34561939 34561939 single base substitution C T intron_variant MELA-AU 6 34561993 34561993 single base substitution G A intron_variant MELA-AU 6 34562188 34562188 single base substitution G A intron_variant MELA-AU 6 34562351 34562352 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34563479 34563479 single base substitution G A intron_variant MELA-AU 6 34564361 34564361 single base substitution G A intron_variant MELA-AU 6 34565705 34565705 single base substitution G A intron_variant MELA-AU 6 34565918 34565918 single base substitution A T intron_variant MELA-AU 6 34567488 34567488 single base substitution C G intron_variant MELA-AU 6 34567864 34567864 single base substitution C T intron_variant MELA-AU 6 34568285 34568285 single base substitution A T intron_variant MELA-AU 6 34568504 34568504 single base substitution G A intron_variant MELA-AU 6 34568505 34568505 single base substitution G A intron_variant MELA-AU 6 34569109 34569109 single base substitution C T intron_variant MELA-AU 6 34569156 34569156 single base substitution G A intron_variant MELA-AU 6 34570170 34570170 single base substitution G A intron_variant MELA-AU 6 34570583 34570583 single base substitution G A intron_variant MELA-AU 6 34570621 34570621 single base substitution G A intron_variant MELA-AU 6 34571058 34571059 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34571929 34571929 single base substitution G A intron_variant MELA-AU 6 34572694 34572694 single base substitution T C intron_variant MELA-AU 6 34572696 34572696 single base substitution T A intron_variant MELA-AU 6 34573101 34573101 single base substitution A C intron_variant MELA-AU 6 34573120 34573120 single base substitution G A intron_variant MELA-AU 6 34573330 34573330 single base substitution C T intron_variant MELA-AU 6 34573670 34573670 single base substitution G A intron_variant MELA-AU 6 34573688 34573688 single base substitution C T intron_variant MELA-AU 6 34573711 34573711 single base substitution A G intron_variant MELA-AU 6 34573731 34573731 single base substitution C T intron_variant MELA-AU 6 34574483 34574483 single base substitution G A missense_variant S163L 488C>T MELA-AU 6 34574483 34574483 single base substitution G A missense_variant S171L 512C>T MELA-AU 6 34574483 34574483 single base substitution G A missense_variant S237L 710C>T MELA-AU 6 34574557 34574557 single base substitution A G synonymous_variant P138P 414T>C MELA-AU 6 34574557 34574557 single base substitution A G synonymous_variant P146P 438T>C MELA-AU 6 34574557 34574557 single base substitution A G synonymous_variant P212P 636T>C MELA-AU 6 34575220 34575220 single base substitution G A intron_variant MELA-AU 6 34575391 34575391 single base substitution G A intron_variant MELA-AU 6 34575466 34575466 single base substitution A T intron_variant MELA-AU 6 34575542 34575542 single base substitution G A intron_variant MELA-AU 6 34575766 34575766 single base substitution G A intron_variant MELA-AU 6 34575903 34575903 single base substitution G A intron_variant MELA-AU 6 34576664 34576664 single base substitution A G intron_variant MELA-AU 6 34576812 34576813 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34577651 34577651 insertion of <=200bp - TAT intron_variant MELA-AU 6 34579764 34579764 single base substitution G A intron_variant MELA-AU 6 34581007 34581007 single base substitution A G intron_variant MELA-AU 6 34581078 34581078 single base substitution G A intron_variant MELA-AU 6 34581507 34581507 single base substitution A T intron_variant MELA-AU 6 34581840 34581840 single base substitution G A intron_variant MELA-AU 6 34582001 34582001 single base substitution C T intron_variant MELA-AU 6 34582017 34582017 single base substitution G A intron_variant MELA-AU 6 34582211 34582211 single base substitution A T intron_variant MELA-AU 6 34583831 34583831 single base substitution G A intron_variant MELA-AU 6 34583988 34583988 single base substitution G A intron_variant MELA-AU 6 34585541 34585541 single base substitution C T intron_variant MELA-AU 6 34585885 34585885 single base substitution G A intron_variant MELA-AU 6 34586504 34586504 single base substitution G A intron_variant MELA-AU 6 34588514 34588514 single base substitution G A intron_variant MELA-AU 6 34588911 34588911 single base substitution G C intron_variant MELA-AU 6 34589248 34589248 single base substitution G A intron_variant MELA-AU 6 34590066 34590066 single base substitution G A intron_variant MELA-AU 6 34590467 34590467 single base substitution G A intron_variant MELA-AU 6 34590859 34590859 single base substitution G A intron_variant MELA-AU 6 34590868 34590868 single base substitution G A intron_variant MELA-AU 6 34590997 34590997 single base substitution A T intron_variant MELA-AU 6 34591096 34591096 single base substitution T C intron_variant MELA-AU 6 34591960 34591961 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34594037 34594038 multiple base substitution (>=2bp and <=200bp) CT AA intron_variant MELA-AU 6 34594223 34594223 single base substitution G A intron_variant MELA-AU 6 34594550 34594550 single base substitution G A intron_variant MELA-AU 6 34594692 34594692 single base substitution G A intron_variant MELA-AU 6 34594708 34594708 single base substitution G A intron_variant MELA-AU 6 34595932 34595932 single base substitution G A intron_variant MELA-AU 6 34596589 34596589 single base substitution G A intron_variant MELA-AU 6 34596630 34596630 single base substitution C G intron_variant MELA-AU 6 34596666 34596666 single base substitution G A intron_variant MELA-AU 6 34597116 34597116 single base substitution G A intron_variant MELA-AU 6 34597297 34597297 single base substitution G A intron_variant MELA-AU 6 34597494 34597494 single base substitution G A intron_variant MELA-AU 6 34597633 34597633 single base substitution G A intron_variant MELA-AU 6 34597952 34597952 single base substitution G A intron_variant MELA-AU 6 34599528 34599528 single base substitution G A intron_variant MELA-AU 6 34600032 34600032 single base substitution A G intron_variant MELA-AU 6 34600101 34600101 single base substitution C T intron_variant MELA-AU 6 34602752 34602752 single base substitution G A intron_variant MELA-AU 6 34603085 34603085 single base substitution C T intron_variant MELA-AU 6 34603495 34603495 single base substitution G A intron_variant MELA-AU 6 34604103 34604103 single base substitution C T intron_variant MELA-AU 6 34604797 34604797 single base substitution G A intron_variant MELA-AU 6 34605307 34605307 single base substitution T C intron_variant MELA-AU 6 34605559 34605559 single base substitution C T intron_variant MELA-AU 6 34605765 34605765 single base substitution G A intron_variant MELA-AU 6 34606393 34606393 single base substitution G A intron_variant MELA-AU 6 34606542 34606542 single base substitution A G intron_variant MELA-AU 6 34606808 34606808 single base substitution G A intron_variant MELA-AU 6 34606878 34606878 single base substitution G A intron_variant MELA-AU 6 34607208 34607208 single base substitution G A intron_variant MELA-AU 6 34607830 34607830 single base substitution A T intron_variant MELA-AU 6 34610021 34610021 single base substitution G A intron_variant MELA-AU 6 34610385 34610385 single base substitution T A intron_variant MELA-AU 6 34610400 34610400 single base substitution A T intron_variant MELA-AU 6 34612169 34612169 single base substitution A T intron_variant MELA-AU 6 34612672 34612672 single base substitution G A intron_variant MELA-AU 6 34612843 34612843 single base substitution C T intron_variant MELA-AU 6 34613019 34613019 single base substitution G A intron_variant MELA-AU 6 34613132 34613132 single base substitution G A intron_variant MELA-AU 6 34613966 34613966 single base substitution G A intron_variant MELA-AU 6 34614567 34614568 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 34614567 34614568 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant EA107ET MELA-AU 6 34614567 34614568 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant EA33ET MELA-AU 6 34615603 34615604 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 6 34615632 34615632 single base substitution G A intron_variant MELA-AU 6 34617550 34617550 single base substitution G A intron_variant MELA-AU 6 34617970 34617970 single base substitution C T intron_variant MELA-AU 6 34618161 34618161 single base substitution G A intron_variant MELA-AU 6 34618716 34618716 single base substitution C T intron_variant MELA-AU 6 34618725 34618725 single base substitution G T intron_variant MELA-AU 6 34619134 34619134 single base substitution G A intron_variant MELA-AU 6 34619420 34619420 single base substitution C T intron_variant MELA-AU 6 34620264 34620264 single base substitution T A intron_variant MELA-AU 6 34620538 34620540 deletion of <=200bp TAA - intron_variant MELA-AU 6 34620724 34620724 single base substitution G A intron_variant MELA-AU 6 34621581 34621581 single base substitution C T intron_variant MELA-AU 6 34621723 34621723 single base substitution G A intron_variant MELA-AU 6 34623021 34623021 single base substitution T G intron_variant MELA-AU 6 34623655 34623656 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34624056 34624056 single base substitution G A intron_variant MELA-AU 6 34624799 34624800 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34625676 34625676 single base substitution A T intron_variant MELA-AU 6 34626597 34626597 single base substitution A G intron_variant MELA-AU 6 34626662 34626662 single base substitution C T intron_variant MELA-AU 6 34626831 34626831 single base substitution G A intron_variant MELA-AU 6 34627275 34627275 single base substitution A G intron_variant MELA-AU 6 34627603 34627603 single base substitution G A intron_variant MELA-AU 6 34627713 34627713 single base substitution G A intron_variant MELA-AU 6 34627784 34627784 single base substitution T C intron_variant MELA-AU 6 34628062 34628062 single base substitution A T intron_variant MELA-AU 6 34628088 34628088 single base substitution A G intron_variant MELA-AU 6 34628336 34628336 single base substitution G A intron_variant MELA-AU 6 34628361 34628361 single base substitution G A intron_variant MELA-AU 6 34628635 34628635 single base substitution G A intron_variant MELA-AU 6 34628873 34628873 single base substitution G A intron_variant MELA-AU 6 34629237 34629237 single base substitution A G intron_variant MELA-AU 6 34630199 34630199 single base substitution C A intron_variant MELA-AU 6 34630318 34630318 insertion of <=200bp - AA intron_variant MELA-AU 6 34630337 34630337 single base substitution T C intron_variant MELA-AU 6 34630339 34630339 single base substitution A G intron_variant MELA-AU 6 34630345 34630345 single base substitution G A intron_variant MELA-AU 6 34630583 34630583 single base substitution G A intron_variant MELA-AU 6 34630797 34630797 single base substitution G A intron_variant MELA-AU 6 34631189 34631189 single base substitution G A intron_variant MELA-AU 6 34631527 34631527 single base substitution A T intron_variant MELA-AU 6 34631621 34631621 single base substitution T C intron_variant MELA-AU 6 34631640 34631641 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 34631755 34631755 single base substitution A G intron_variant MELA-AU 6 34631897 34631897 single base substitution A T intron_variant MELA-AU 6 34637742 34637742 single base substitution G A intron_variant MELA-AU 6 34637910 34637910 single base substitution G A intron_variant MELA-AU 6 34638095 34638095 single base substitution G A intron_variant MELA-AU 6 34638119 34638119 single base substitution G A intron_variant MELA-AU 6 34638135 34638135 single base substitution G A intron_variant MELA-AU 6 34638907 34638907 single base substitution G A intron_variant MELA-AU 6 34639675 34639675 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 6 34639675 34639675 single base substitution A G intron_variant MELA-AU 6 34639817 34639817 single base substitution G A intron_variant MELA-AU 6 34639817 34639817 single base substitution G A upstream_gene_variant MELA-AU 6 34640216 34640216 single base substitution G A intron_variant MELA-AU 6 34640216 34640216 single base substitution G A upstream_gene_variant MELA-AU 6 34640312 34640312 single base substitution G A intron_variant MELA-AU 6 34640312 34640312 single base substitution G A upstream_gene_variant MELA-AU 6 34641045 34641045 single base substitution G A intron_variant MELA-AU 6 34641045 34641045 single base substitution G A upstream_gene_variant MELA-AU 6 34642302 34642302 single base substitution G A intron_variant MELA-AU 6 34642302 34642302 single base substitution G A upstream_gene_variant MELA-AU 6 34643054 34643054 single base substitution T A intron_variant MELA-AU 6 34643054 34643054 single base substitution T A upstream_gene_variant MELA-AU 6 34643571 34643571 single base substitution G T intron_variant MELA-AU 6 34643571 34643571 single base substitution G T upstream_gene_variant MELA-AU 6 34643737 34643738 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 6 34643737 34643738 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 6 34645517 34645517 single base substitution G A intron_variant MELA-AU 6 34646088 34646088 single base substitution G A intron_variant MELA-AU 6 34646647 34646647 single base substitution A G intron_variant MELA-AU 6 34648661 34648661 single base substitution G A intron_variant MELA-AU 6 34649314 34649314 single base substitution G A intron_variant MELA-AU 6 34650251 34650251 single base substitution G A intron_variant MELA-AU 6 34650521 34650521 single base substitution G A intron_variant MELA-AU 6 34650742 34650742 single base substitution A C intron_variant MELA-AU 6 34651230 34651230 single base substitution C T intron_variant MELA-AU 6 34651600 34651600 single base substitution G A intron_variant MELA-AU 6 34651786 34651786 single base substitution G A intron_variant MELA-AU 6 34652154 34652154 single base substitution G A intron_variant MELA-AU 6 34652629 34652629 single base substitution G A intron_variant MELA-AU 6 34654204 34654204 single base substitution G A intron_variant MELA-AU 6 34654260 34654260 single base substitution G A intron_variant MELA-AU 6 34654456 34654456 single base substitution G A intron_variant MELA-AU 6 34655460 34655460 single base substitution G A intron_variant MELA-AU 6 34655822 34655822 single base substitution G A intron_variant MELA-AU 6 34656280 34656280 single base substitution G A intron_variant MELA-AU 6 34656427 34656427 insertion of <=200bp - A intron_variant MELA-AU 6 34656499 34656499 single base substitution A G intron_variant MELA-AU 6 34656602 34656602 single base substitution G A intron_variant MELA-AU 6 34658132 34658132 single base substitution G A intron_variant MELA-AU 6 34658291 34658291 single base substitution T G intron_variant MELA-AU 6 34658516 34658516 single base substitution G A intron_variant MELA-AU 6 34658706 34658706 single base substitution G A intron_variant MELA-AU 6 34658998 34658998 single base substitution T C intron_variant MELA-AU 6 34659370 34659370 single base substitution G A intron_variant MELA-AU 6 34659392 34659392 single base substitution G A intron_variant MELA-AU 6 34659528 34659528 single base substitution G A intron_variant MELA-AU 6 34659709 34659732 deletion of <=200bp TCACAAAAGCATAACCTTTCCAAC - intron_variant MELA-AU 6 34659875 34659875 single base substitution G A intron_variant MELA-AU 6 34660673 34660673 single base substitution A T intron_variant MELA-AU 6 34662645 34662645 single base substitution T C intron_variant MELA-AU 6 34662815 34662815 single base substitution G A intron_variant MELA-AU 6 34662876 34662876 single base substitution G A intron_variant MELA-AU 6 34663201 34663202 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 6 34663924 34663924 single base substitution G A intron_variant MELA-AU 6 34664684 34664684 single base substitution C T upstream_gene_variant MELA-AU 6 34664688 34664688 single base substitution C T upstream_gene_variant MELA-AU 6 34664691 34664691 single base substitution C T upstream_gene_variant MELA-AU 6 34664782 34664782 single base substitution G A upstream_gene_variant MELA-AU 6 34665236 34665236 single base substitution C A upstream_gene_variant MELA-AU 6 34665762 34665762 single base substitution C T upstream_gene_variant MELA-AU 6 34665786 34665786 single base substitution G A upstream_gene_variant MELA-AU 6 34666190 34666190 single base substitution G T upstream_gene_variant MELA-AU 6 34666621 34666621 single base substitution C T upstream_gene_variant MELA-AU 6 34666863 34666863 single base substitution A C upstream_gene_variant MELA-AU 6 34667052 34667052 single base substitution C T upstream_gene_variant MELA-AU 6 34667740 34667740 single base substitution A T upstream_gene_variant MELA-AU 6 34668103 34668103 single base substitution C T upstream_gene_variant MELA-AU 6 34668197 34668197 single base substitution G A upstream_gene_variant MELA-AU 6 34668217 34668217 single base substitution G A upstream_gene_variant MELA-AU 6 34668353 34668353 single base substitution A T upstream_gene_variant MELA-AU 6 34668472 34668472 single base substitution A T upstream_gene_variant MELA-AU 6 34668719 34668719 single base substitution G A upstream_gene_variant MELA-AU 6 34669138 34669138 single base substitution T G upstream_gene_variant MELA-AU 6 34669524 34669524 single base substitution C T upstream_gene_variant ORCA-IN 6 34565132 34565132 single base substitution G A intron_variant ORCA-IN 6 34569482 34569482 deletion of <=200bp G - intron_variant ORCA-IN 6 34604656 34604656 single base substitution G A intron_variant ORCA-IN 6 34661444 34661444 deletion of <=200bp A - intron_variant OV-AU 6 34558003 34558003 single base substitution G A 3_prime_UTR_variant OV-AU 6 34558003 34558003 single base substitution G A downstream_gene_variant OV-AU 6 34559162 34559162 single base substitution C T intron_variant OV-AU 6 34587116 34587116 single base substitution G C intron_variant OV-AU 6 34612722 34612722 single base substitution G A intron_variant OV-AU 6 34615278 34615278 single base substitution C G intron_variant OV-AU 6 34620871 34620871 single base substitution T C intron_variant OV-AU 6 34641920 34641920 single base substitution C A intron_variant OV-AU 6 34641920 34641920 single base substitution C A upstream_gene_variant OV-AU 6 34643350 34643350 single base substitution C T intron_variant OV-AU 6 34643350 34643350 single base substitution C T upstream_gene_variant OV-AU 6 34651500 34651500 single base substitution C T intron_variant OV-AU 6 34663214 34663214 single base substitution G A intron_variant OV-AU 6 34663945 34663945 single base substitution T A intron_variant OV-AU 6 34665452 34665452 single base substitution G A upstream_gene_variant OV-AU 6 34668379 34668379 single base substitution C A upstream_gene_variant OV-US 6 34574605 34574605 single base substitution C A synonymous_variant T122T 366G>T OV-US 6 34574605 34574605 single base substitution C A synonymous_variant T130T 390G>T OV-US 6 34574605 34574605 single base substitution C A synonymous_variant T196T 588G>T PACA-AU 6 34559116 34559116 single base substitution T G intron_variant PACA-AU 6 34562472 34562472 single base substitution C T intron_variant PACA-AU 6 34569017 34569017 single base substitution C T intron_variant PACA-AU 6 34570020 34570020 single base substitution G T intron_variant PACA-AU 6 34571689 34571689 single base substitution C T intron_variant PACA-AU 6 34572445 34572445 single base substitution A T intron_variant PACA-AU 6 34575773 34575773 single base substitution G T intron_variant PACA-AU 6 34581160 34581160 deletion of <=200bp A - intron_variant PACA-AU 6 34581331 34581331 single base substitution T C intron_variant PACA-AU 6 34582213 34582213 single base substitution A T intron_variant PACA-AU 6 34585297 34585297 single base substitution G A intron_variant PACA-AU 6 34587579 34587579 single base substitution T C intron_variant PACA-AU 6 34597460 34597460 single base substitution G A intron_variant PACA-AU 6 34604757 34604757 single base substitution C T intron_variant PACA-AU 6 34611519 34611519 single base substitution G A intron_variant PACA-AU 6 34612842 34612842 single base substitution T A intron_variant PACA-AU 6 34616532 34616532 single base substitution T A intron_variant PACA-AU 6 34618185 34618185 insertion of <=200bp - TTTA intron_variant PACA-AU 6 34626288 34626288 single base substitution G C intron_variant PACA-AU 6 34628251 34628251 single base substitution C T intron_variant PACA-AU 6 34631298 34631298 single base substitution G A intron_variant PACA-AU 6 34631616 34631616 single base substitution A G intron_variant PACA-AU 6 34631948 34631948 single base substitution G A intron_variant PACA-AU 6 34637668 34637668 deletion of <=200bp A - intron_variant PACA-AU 6 34640841 34640841 single base substitution C T intron_variant PACA-AU 6 34640841 34640841 single base substitution C T upstream_gene_variant PACA-AU 6 34642689 34642689 deletion of <=200bp A - intron_variant PACA-AU 6 34642689 34642689 deletion of <=200bp A - upstream_gene_variant PACA-AU 6 34649359 34649359 single base substitution G T intron_variant PACA-AU 6 34650040 34650040 single base substitution T G intron_variant PACA-AU 6 34650910 34650910 single base substitution C T intron_variant PACA-AU 6 34658055 34658055 single base substitution T C intron_variant PACA-AU 6 34661447 34661449 deletion of <=200bp TTA - intron_variant PACA-AU 6 34666870 34666870 single base substitution A C upstream_gene_variant PACA-AU 6 34668009 34668009 single base substitution G T upstream_gene_variant PACA-AU 6 34668521 34668521 single base substitution C T upstream_gene_variant PACA-CA 6 34551033 34551033 single base substitution G A downstream_gene_variant PACA-CA 6 34553174 34553174 single base substitution A G downstream_gene_variant PACA-CA 6 34554781 34554781 single base substitution T G downstream_gene_variant PACA-CA 6 34556120 34556120 single base substitution C G 3_prime_UTR_variant PACA-CA 6 34556120 34556120 single base substitution C G downstream_gene_variant PACA-CA 6 34556514 34556514 single base substitution C T 3_prime_UTR_variant PACA-CA 6 34556514 34556514 single base substitution C T downstream_gene_variant PACA-CA 6 34562022 34562022 single base substitution A T intron_variant PACA-CA 6 34562459 34562459 single base substitution A T intron_variant PACA-CA 6 34570099 34570099 single base substitution G A intron_variant PACA-CA 6 34570953 34570953 single base substitution C T intron_variant PACA-CA 6 34574583 34574583 single base substitution G A missense_variant R130C 388C>T PACA-CA 6 34574583 34574583 single base substitution G A missense_variant R138C 412C>T PACA-CA 6 34574583 34574583 single base substitution G A missense_variant R204C 610C>T PACA-CA 6 34578126 34578126 single base substitution T C intron_variant PACA-CA 6 34579159 34579159 single base substitution T C intron_variant PACA-CA 6 34580676 34580676 single base substitution C T intron_variant PACA-CA 6 34584643 34584645 deletion of <=200bp TTA - intron_variant PACA-CA 6 34590495 34590495 single base substitution G A intron_variant PACA-CA 6 34590831 34590831 single base substitution G C intron_variant PACA-CA 6 34591078 34591078 single base substitution G C intron_variant PACA-CA 6 34591951 34591951 single base substitution G T intron_variant PACA-CA 6 34592519 34592519 single base substitution G C intron_variant PACA-CA 6 34594058 34594058 deletion of <=200bp C - intron_variant PACA-CA 6 34594558 34594558 single base substitution C T intron_variant PACA-CA 6 34595641 34595641 single base substitution C T intron_variant PACA-CA 6 34601543 34601543 single base substitution T C intron_variant PACA-CA 6 34607093 34607093 single base substitution C T intron_variant PACA-CA 6 34608667 34608667 single base substitution A G intron_variant PACA-CA 6 34613236 34613236 single base substitution C T intron_variant PACA-CA 6 34623860 34623860 single base substitution A C intron_variant PACA-CA 6 34627690 34627690 single base substitution G A intron_variant PACA-CA 6 34636662 34636662 single base substitution C A intron_variant PACA-CA 6 34640336 34640336 deletion of <=200bp T - intron_variant PACA-CA 6 34640336 34640336 deletion of <=200bp T - upstream_gene_variant PACA-CA 6 34641446 34641446 single base substitution G T intron_variant PACA-CA 6 34641446 34641446 single base substitution G T upstream_gene_variant PACA-CA 6 34641527 34641527 single base substitution G A intron_variant PACA-CA 6 34641527 34641527 single base substitution G A upstream_gene_variant PACA-CA 6 34645507 34645507 single base substitution C T intron_variant PACA-CA 6 34646687 34646687 single base substitution A G intron_variant PACA-CA 6 34648808 34648808 single base substitution A G intron_variant PACA-CA 6 34651292 34651292 single base substitution C T intron_variant PACA-CA 6 34651481 34651481 single base substitution G C intron_variant PACA-CA 6 34652107 34652107 single base substitution T C intron_variant PACA-CA 6 34652110 34652110 single base substitution G A intron_variant PACA-CA 6 34655489 34655489 single base substitution T A intron_variant PACA-CA 6 34662670 34662670 insertion of <=200bp - A intron_variant PACA-CA 6 34665450 34665450 single base substitution G C upstream_gene_variant PAEN-AU 6 34564014 34564014 single base substitution G A intron_variant PAEN-AU 6 34580430 34580430 single base substitution T C intron_variant PAEN-AU 6 34580851 34580851 single base substitution G A intron_variant PAEN-AU 6 34603062 34603062 single base substitution T G intron_variant PAEN-AU 6 34604571 34604571 single base substitution T G intron_variant PAEN-AU 6 34668417 34668417 single base substitution C G upstream_gene_variant PAEN-IT 6 34668188 34668188 single base substitution G A upstream_gene_variant PBCA-DE 6 34559204 34559204 single base substitution C T intron_variant PBCA-DE 6 34561866 34561866 single base substitution C T intron_variant PBCA-DE 6 34580994 34580996 deletion of <=200bp AAC - intron_variant PBCA-DE 6 34605642 34605642 insertion of <=200bp - TGTTGTTGTTGTTGT intron_variant PBCA-DE 6 34606356 34606356 single base substitution C T intron_variant PBCA-DE 6 34641682 34641683 deletion of <=200bp AC - intron_variant PBCA-DE 6 34641682 34641683 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 6 34648657 34648659 deletion of <=200bp GGA - intron_variant PBCA-DE 6 34649947 34649947 single base substitution C T intron_variant PBCA-DE 6 34650984 34650984 single base substitution T C intron_variant PBCA-DE 6 34654052 34654052 single base substitution C T intron_variant PBCA-DE 6 34655198 34655198 single base substitution C T intron_variant PBCA-DE 6 34661503 34661503 single base substitution G A intron_variant PBCA-DE 6 34667420 34667420 single base substitution G A upstream_gene_variant PBCA-DE 6 34668078 34668080 deletion of <=200bp GTT - upstream_gene_variant PBCA-DE 6 34668460 34668460 single base substitution C G upstream_gene_variant PRAD-CA 6 34566245 34566245 single base substitution C G intron_variant PRAD-CA 6 34584538 34584538 single base substitution T C intron_variant PRAD-CA 6 34618257 34618257 single base substitution G A intron_variant PRAD-CA 6 34626746 34626746 single base substitution G T intron_variant PRAD-CA 6 34644253 34644253 single base substitution C A intron_variant PRAD-CA 6 34644253 34644253 single base substitution C A upstream_gene_variant PRAD-CA 6 34651280 34651280 single base substitution T C intron_variant PRAD-CA 6 34655973 34655973 single base substitution G A intron_variant PRAD-CA 6 34669124 34669124 single base substitution C T upstream_gene_variant PRAD-CA 6 34669319 34669319 single base substitution T G upstream_gene_variant PRAD-UK 6 34550899 34550899 single base substitution G A downstream_gene_variant PRAD-UK 6 34551323 34551323 single base substitution G A downstream_gene_variant PRAD-UK 6 34555867 34555867 single base substitution T C 3_prime_UTR_variant PRAD-UK 6 34555867 34555867 single base substitution T C downstream_gene_variant PRAD-UK 6 34558178 34558178 single base substitution C T 3_prime_UTR_variant PRAD-UK 6 34558178 34558178 single base substitution C T downstream_gene_variant PRAD-UK 6 34564085 34564085 single base substitution A C intron_variant PRAD-UK 6 34566730 34566730 single base substitution A C intron_variant PRAD-UK 6 34573226 34573226 single base substitution G A intron_variant PRAD-UK 6 34580742 34580742 single base substitution C T intron_variant PRAD-UK 6 34584392 34584392 single base substitution G A intron_variant PRAD-UK 6 34604000 34604019 multiple base substitution (>=2bp and <=200bp) TGATAGAGTGAGACACTCTA TATTT intron_variant PRAD-UK 6 34609594 34609594 single base substitution A C intron_variant PRAD-UK 6 34610813 34610813 single base substitution C T intron_variant PRAD-UK 6 34611439 34611439 single base substitution G C intron_variant PRAD-UK 6 34612007 34612007 insertion of <=200bp - T intron_variant PRAD-UK 6 34612016 34612016 insertion of <=200bp - T intron_variant PRAD-UK 6 34647617 34647617 single base substitution A G intron_variant PRAD-UK 6 34655784 34655784 single base substitution T A intron_variant PRAD-UK 6 34667093 34667093 single base substitution G T upstream_gene_variant RECA-EU 6 34552080 34552080 single base substitution G C downstream_gene_variant RECA-EU 6 34572229 34572229 single base substitution A T intron_variant RECA-EU 6 34596320 34596320 single base substitution A G intron_variant RECA-EU 6 34597868 34597868 single base substitution C A intron_variant RECA-EU 6 34598389 34598389 single base substitution G T intron_variant RECA-EU 6 34605247 34605247 single base substitution G T intron_variant RECA-EU 6 34605635 34605635 single base substitution C T intron_variant RECA-EU 6 34605638 34605638 single base substitution C T intron_variant RECA-EU 6 34607658 34607658 single base substitution G A intron_variant RECA-EU 6 34629409 34629409 single base substitution T G intron_variant RECA-EU 6 34633582 34633582 single base substitution C G intron_variant RECA-EU 6 34650036 34650036 single base substitution T G intron_variant RECA-EU 6 34657584 34657584 single base substitution T C intron_variant RECA-EU 6 34658280 34658280 single base substitution A G intron_variant RECA-EU 6 34666322 34666322 single base substitution A T upstream_gene_variant RECA-EU 6 34667920 34667920 single base substitution T G upstream_gene_variant SKCA-BR 6 34552157 34552157 single base substitution G C downstream_gene_variant SKCA-BR 6 34555278 34555278 single base substitution T G 3_prime_UTR_variant SKCA-BR 6 34555278 34555278 single base substitution T G downstream_gene_variant SKCA-BR 6 34564281 34564281 single base substitution G A intron_variant SKCA-BR 6 34565649 34565649 single base substitution T C intron_variant SKCA-BR 6 34569608 34569608 single base substitution G A intron_variant SKCA-BR 6 34571563 34571563 single base substitution G A intron_variant SKCA-BR 6 34579991 34580007 deletion of <=200bp GACCAGCCTATGGCAAC - intron_variant SKCA-BR 6 34582211 34582211 single base substitution A T intron_variant SKCA-BR 6 34582218 34582218 single base substitution A T intron_variant SKCA-BR 6 34583020 34583020 single base substitution A C intron_variant SKCA-BR 6 34584881 34584881 single base substitution G A intron_variant SKCA-BR 6 34589863 34589863 single base substitution C T intron_variant SKCA-BR 6 34590863 34590863 single base substitution T G intron_variant SKCA-BR 6 34594345 34594345 single base substitution A C intron_variant SKCA-BR 6 34594874 34594874 single base substitution C A intron_variant SKCA-BR 6 34597834 34597834 single base substitution G A intron_variant SKCA-BR 6 34603388 34603388 single base substitution G A intron_variant SKCA-BR 6 34603572 34603572 single base substitution A G intron_variant SKCA-BR 6 34605644 34605644 single base substitution T C intron_variant SKCA-BR 6 34608490 34608502 deletion of <=200bp AAATGAATGAATG - intron_variant SKCA-BR 6 34608855 34608855 insertion of <=200bp - CA intron_variant SKCA-BR 6 34609945 34609945 single base substitution G A intron_variant SKCA-BR 6 34611295 34611295 single base substitution A T intron_variant SKCA-BR 6 34615284 34615284 single base substitution G A intron_variant SKCA-BR 6 34616768 34616768 single base substitution C A intron_variant SKCA-BR 6 34617144 34617144 single base substitution A G intron_variant SKCA-BR 6 34618333 34618333 single base substitution G A intron_variant SKCA-BR 6 34619511 34619512 deletion of <=200bp TA - intron_variant SKCA-BR 6 34619511 34619513 deletion of <=200bp TAA - intron_variant SKCA-BR 6 34621735 34621735 single base substitution G A intron_variant SKCA-BR 6 34624528 34624528 single base substitution A G intron_variant SKCA-BR 6 34627853 34627853 single base substitution T G intron_variant SKCA-BR 6 34634284 34634284 single base substitution G A intron_variant SKCA-BR 6 34635706 34635706 single base substitution G A intron_variant SKCA-BR 6 34635971 34635971 single base substitution G A intron_variant SKCA-BR 6 34636268 34636268 single base substitution C T intron_variant SKCA-BR 6 34637066 34637066 insertion of <=200bp - AT intron_variant SKCA-BR 6 34644017 34644018 deletion of <=200bp CA - intron_variant SKCA-BR 6 34644017 34644018 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 6 34648574 34648574 single base substitution C T intron_variant SKCA-BR 6 34651288 34651292 deletion of <=200bp TATAC - intron_variant SKCA-BR 6 34651746 34651746 single base substitution T G intron_variant SKCA-BR 6 34651808 34651808 single base substitution T C intron_variant SKCA-BR 6 34660671 34660671 single base substitution G A intron_variant SKCA-BR 6 34662827 34662827 insertion of <=200bp - CA intron_variant SKCA-BR 6 34664685 34664685 single base substitution C T upstream_gene_variant STAD-US 6 34574621 34574621 single base substitution A G missense_variant L117P 350T>C STAD-US 6 34574621 34574621 single base substitution A G missense_variant L125P 374T>C STAD-US 6 34574621 34574621 single base substitution A G missense_variant L191P 572T>C THCA-SA 6 34557246 34557246 single base substitution C T 3_prime_UTR_variant THCA-SA 6 34557246 34557246 single base substitution C T downstream_gene_variant THCA-SA 6 34622545 34622545 single base substitution G T 5_prime_UTR_variant THCA-SA 6 34622545 34622545 single base substitution G T missense_variant A57E 170C>A UCEC-US 6 34574488 34574488 single base substitution G A synonymous_variant F161F 483C>T UCEC-US 6 34574488 34574488 single base substitution G A synonymous_variant F169F 507C>T UCEC-US 6 34574488 34574488 single base substitution G A synonymous_variant F235F 705C>T UCEC-US 6 34574493 34574493 single base substitution C T missense_variant E160K 478G>A UCEC-US 6 34574493 34574493 single base substitution C T missense_variant E168K 502G>A UCEC-US 6 34574493 34574493 single base substitution C T missense_variant E234K 700G>A UCEC-US 6 34574539 34574539 single base substitution C A missense_variant K144N 432G>T UCEC-US 6 34574539 34574539 single base substitution C A missense_variant K152N 456G>T UCEC-US 6 34574539 34574539 single base substitution C A missense_variant K218N 654G>T UCEC-US 6 34614409 34614409 single base substitution C T intron_variant UCEC-US 6 34614409 34614409 single base substitution C T synonymous_variant R160R 480G>A UCEC-US 6 34614409 34614409 single base substitution C T synonymous_variant R86R 258G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SCC-9 COSM4592932 c.157T>G p.W53G Substitution - Missense 6:34696447-34696447 - TCGA-BR-8372-01 COSM3873367 c.572T>C p.L191P Substitution - Missense 6:34606844-34606844 - HCC64T COSM1621552 c.809A>G p.N270S Substitution - Missense 6:34606607-34606607 - B74 COSM1754750 c.88G>A p.E30K Substitution - Missense 6:34696516-34696516 - PT51 COSM5938143 c.159-6C>T p.? Unknown 6:34654785-34654785 - LUAD-B01811 COSM334706 c.107G>T p.G36V Substitution - Missense 6:34696497-34696497 - TCGA-AZ-4315-01 COSM1443947 c.233T>C p.V78A Substitution - Missense 6:34654705-34654705 - 441 COSM4434544 c.52T>C p.C18R Substitution - Missense 6:34696552-34696552 - Gp5D COSM4629196 c.166C>T p.Q56* Substitution - Nonsense 6:34654772-34654772 - CAL33 COSM4592932 c.157T>G p.W53G Substitution - Missense 6:34696447-34696447 - Pat_73_B COSM5870445 c.818C>T p.P273L Substitution - Missense 6:34606598-34606598 - BHY COSM4592932 c.157T>G p.W53G Substitution - Missense 6:34696447-34696447 - UD-SCC-2 COSM4592932 c.157T>G p.W53G Substitution - Missense 6:34696447-34696447 - TCGA-D1-A103-01 COSM1078241 c.480G>A p.R160R Substitution - coding silent 6:34646632-34646632 - PTC-28C COSM4161094 c.656A>G p.N219S Substitution - Missense 6:34606760-34606760 - B74-Tumor COSM1754750 c.88G>A p.E30K Substitution - Missense 6:34696516-34696516 - pfg022T COSM1643045 c.438G>T p.M146I Substitution - Missense 6:34646674-34646674 - HCT15 COSM3350946 c.499C>A p.L167I Substitution - Missense 6:34646613-34646613 - 2492712 COSM5718616 c.885C>T p.F295F Substitution - coding silent 6:34590577-34590577 - TCGA-BS-A0TJ-01 COSM1078242 c.299G>A p.R100Q Substitution - Missense 6:34654639-34654639 - PCSI_0466_Pa_P_526 COSM3350932 c.610C>T p.R204C Substitution - Missense 6:34606806-34606806 - NCI-H322M COSM1194855 c.227C>G p.S76C Substitution - Missense 6:34654711-34654711 - BD110T COSM5514181 c.640delG p.A214fs*14 Deletion - Frameshift 6:34606776-34606776 - TCGA-AB-2943-03 COSM1319098 c.185A>G p.Y62C Substitution - Missense 6:34654753-34654753 - Pat_45_A COSM5870446 c.479G>A p.R160Q Substitution - Missense 6:34646633-34646633 - TCGA-HE-A5NI-01 COSM4414216 c.119A>G p.N40S Substitution - Missense 6:34696485-34696485 - 2492711 COSM5718616 c.885C>T p.F295F Substitution - coding silent 6:34590577-34590577 - 2492714 COSM5718616 c.885C>T p.F295F Substitution - coding silent 6:34590577-34590577 - 2492713 COSM5718616 c.885C>T p.F295F Substitution - coding silent 6:34590577-34590577 - TCGA-BP-5195-01 COSM483965 c.87C>A p.S29S Substitution - coding silent 6:34696517-34696517 - LIM2405 COSM1078242 c.299G>A p.R100Q Substitution - Missense 6:34654639-34654639 - H322T COSM1194855 c.227C>G p.S76C Substitution - Missense 6:34654711-34654711 - TCGA-60-2698-01 COSM742266 c.754C>T p.P252S Substitution - Missense 6:34606662-34606662 - pfg022T COSM1643045 c.438G>T p.M146I Substitution - Missense 6:34646674-34646674 - T3064 COSM4667868 c.563C>T p.T188M Substitution - Missense 6:34606853-34606853 - PT13 COSM5895796 c.880C>T p.P294S Substitution - Missense 6:34590582-34590582 - TCGA-GV-A40G-01 COSM3777584 c.606G>C p.P202P Substitution - coding silent 6:34606810-34606810 - BD57T COSM1078238 c.705C>T p.F235F Substitution - coding silent 6:34606711-34606711 - HCC64 COSM1621552 c.809A>G p.N270S Substitution - Missense 6:34606607-34606607 - SC_9083 COSM5573195 c.159-1G>T p.? Unknown 6:34654780-34654780 - CSCC-20-T COSM4490522 c.364C>T p.Q122* Substitution - Nonsense 6:34646748-34646748 - HCC40T COSM1621553 c.199A>T p.S67C Substitution - Missense 6:34654739-34654739 - TCGA-BC-A110-01 COSM4936351 c.552T>G p.L184L Substitution - coding silent 6:34606864-34606864 - HCC40 COSM1621553 c.199A>T p.S67C Substitution - Missense 6:34654739-34654739 - PTC_184 COSM5958487 c.170C>A p.A57E Substitution - Missense 6:34654768-34654768 - TCGA-AP-A056-01 COSM1078240 c.654G>T p.K218N Substitution - Missense 6:34606762-34606762 - GHE0436 COSM5713745 c.151A>C p.T51P Substitution - Missense 6:34696453-34696453 - PTC-28C COSM4161093 c.659G>A p.R220Q Substitution - Missense 6:34606757-34606757 - H1155 COSM1195593 c.496G>A p.G166R Substitution - Missense 6:34646616-34646616 - 134417 COSM324895 c.253G>C p.E85Q Substitution - Missense 6:34654685-34654685 - Pat_73_A COSM5870445 c.818C>T p.P273L Substitution - Missense 6:34606598-34606598 - 1T COSM109285 c.699C>T p.S233S Substitution - coding silent 6:34606717-34606717 - pfg008T COSM1643044 c.828C>T p.H276H Substitution - coding silent 6:34606588-34606588 - CAL27 COSM4592932 c.157T>G p.W53G Substitution - Missense 6:34696447-34696447 - TCGA-04-1336-01 COSM80944 c.588G>T p.T196T Substitution - coding silent 6:34606828-34606828 - TCGA-G2-A3IE-01 COSM1312109 c.90G>A p.E30E Substitution - coding silent 6:34696514-34696514 - PT35 COSM5912384 c.881C>T p.P294L Substitution - Missense 6:34590581-34590581 - UM-SCC-2 COSM4592932 c.157T>G p.W53G Substitution - Missense 6:34696447-34696447 - TCGA-BS-A0UF-01 COSM1078238 c.705C>T p.F235F Substitution - coding silent 6:34606711-34606711 - TCGA-AP-A0LM-01 COSM1078239 c.700G>A p.E234K Substitution - Missense 6:34606716-34606716 - TCGA-F4-6856-01 COSM1443946 c.430G>A p.V144I Substitution - Missense 6:34646682-34646682 - 1T COSM107583 c.698C>T p.S233F Substitution - Missense 6:34606718-34606718 - HCC2998 COSM3350953 c.414G>T p.E138D Substitution - Missense 6:34646698-34646698 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.643498 6p21.31 612217 2466042|CGAP|BC075810|C/T|non-coding||3698|Validated; 269095|dbSNP|BC075810|C/T|non-coding||2033|Candidate; 1517474|dbSNP|BC075810|A/C|non-coding||4333|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.M146R c.437T>G 6 34614452 HNSC C A Missense p.G119W c.355G>T 6 34614534 CM C A Missense p.M146I c.438G>T 6 34614451 STAD C A Synonymous p.T196T c.588G>T 6 34574605 OV C G Missense p.E107Q c.319G>C 6 34614570 HNSC C G Missense p.E85Q c.253G>C 6 34622462 SCLC C T Missense p.E79K c.235G>A 6 34622480 CM C T Synonymous p.E30E c.90G>A 6 34664291 BLCA G A IntronicSNV . c.512-9968C>T 6 34584649 CM G A Synonymous p.H276H c.828C>T 6 34574365 STAD T C 3-UTRSNV . c.894+239A>G 6 34558106 HC T C Missense p.Y62C c.185A>G 6 34622530 AML