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 108395512 108395512 + Missense_Mutation SNP C C A TCGA-OR-A5KW-01A-11D-A29I-10 TCGA-OR-A5KW-10A-01D-A29L-10 g.chr6:108395512C>A c.344G>T c.(343-345)tGc>tTc p.C115F BLCA 6 108372309 108372309 + Nonsense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr6:108372309C>A c.709G>T c.(709-711)Gaa>Taa p.E237* BLCA 6 108372381 108372381 + Missense_Mutation SNP G G C TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr6:108372381G>C c.637C>G c.(637-639)Cag>Gag p.Q213E BLCA 6 108385488 108385488 + Nonsense_Mutation SNP G G A TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr6:108385488G>A c.418C>T c.(418-420)Cag>Tag p.Q140* BLCA 6 108395523 108395523 + Silent SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr6:108395523G>A c.333C>T c.(331-333)ctC>ctT p.L111L BRCA 6 108395499 108395499 + Silent SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr6:108395499G>A c.357C>T c.(355-357)ttC>ttT p.F119F COAD 6 108370456 108370456 + Splice_Site SNP C C T TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr6:108370456C>T c.e5+1 COAD 6 108370486 108370486 + Nonsense_Mutation SNP G G C TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr6:108370486G>C c.920C>G c.(919-921)tCa>tGa p.S307* COAD 6 108372296 108372297 + Frame_Shift_Ins INS - - T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:108372296_108372297insT c.721_722insA c.(721-723)atgfs p.M241fs COAD 6 108372296 108372297 + Frame_Shift_Ins INS - - T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr6:108372296_108372297insT c.721_722insA c.(721-723)atgfs p.M241fs COAD 6 108372297 108372297 + Frame_Shift_Del DEL T T - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr6:108372297delT c.721delA c.(721-723)atgfs p.M241fs COADREAD 6 108370456 108370456 + Splice_Site SNP C C T TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr6:108370456C>T c.e5+1 COADREAD 6 108370486 108370486 + Nonsense_Mutation SNP G G C TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr6:108370486G>C c.920C>G c.(919-921)tCa>tGa p.S307* COADREAD 6 108372296 108372297 + Frame_Shift_Ins INS - - T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr6:108372296_108372297insT c.721_722insA c.(721-723)atgfs p.M241fs COADREAD 6 108372296 108372297 + Frame_Shift_Ins INS - - T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr6:108372296_108372297insT c.721_722insA c.(721-723)atgfs p.M241fs COADREAD 6 108372297 108372297 + Frame_Shift_Del DEL T T - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr6:108372297delT c.721delA c.(721-723)atgfs p.M241fs DLBC 6 108370472 108370472 + Missense_Mutation SNP G G A TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr6:108370472G>A c.934C>T c.(934-936)Cgc>Tgc p.R312C HNSC 6 108370556 108370556 + Missense_Mutation SNP G G A TCGA-CV-7434-01A-11D-2129-08 TCGA-CV-7434-10A-01D-2129-08 g.chr6:108370556G>A c.850C>T c.(850-852)Cct>Tct p.P284S HNSC 6 108395463 108395463 + Silent SNP T T A TCGA-CV-5431-01A-01D-1512-08 TCGA-CV-5431-11A-01D-1512-08 g.chr6:108395463T>A c.393A>T c.(391-393)cgA>cgT p.R131R HNSC 6 108395812 108395812 + Missense_Mutation SNP G G T TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 g.chr6:108395812G>T c.44C>A c.(43-45)cCg>cAg p.P15Q KIPAN 6 108395713 108395713 + Missense_Mutation SNP G G C TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chr6:108395713G>C c.143C>G c.(142-144)tCg>tGg p.S48W KIRP 6 108395713 108395713 + Missense_Mutation SNP G G C TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chr6:108395713G>C c.143C>G c.(142-144)tCg>tGg p.S48W LIHC 6 108370618 108370618 + Missense_Mutation SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr6:108370618T>C c.788A>G c.(787-789)aAc>aGc p.N263S LIHC 6 108372287 108372287 + Missense_Mutation SNP A A G TCGA-RC-A7SK-01A-11D-A34Z-10 TCGA-RC-A7SK-10A-01D-A34Z-10 g.chr6:108372287A>G c.731T>C c.(730-732)cTt>cCt p.L244P LIHC 6 108372335 108372335 + Missense_Mutation SNP T T A TCGA-DD-A3A9-01A-11D-A25V-10 TCGA-DD-A3A9-11A-11D-A25V-10 g.chr6:108372335T>A c.683A>T c.(682-684)tAc>tTc p.Y228F LIHC 6 108375753 108375753 + Missense_Mutation SNP T T C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr6:108375753T>C c.556A>G c.(556-558)Aca>Gca p.T186A LUAD 6 108372344 108372344 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr6:108372344C>A c.674G>T c.(673-675)cGt>cTt p.R225L LUSC 6 108375753 108375753 + Missense_Mutation SNP T T A TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr6:108375753T>A c.556A>T c.(556-558)Aca>Tca p.T186S LUSC 6 108395464 108395464 + Missense_Mutation SNP C C A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr6:108395464C>A c.392G>T c.(391-393)cGa>cTa p.R131L OV 6 108366015 108366015 + Missense_Mutation SNP C C A TCGA-29-2429-01A-01D-1526-09 TCGA-29-2429-10A-01D-1526-09 g.chr6:108366015C>A c.979G>T c.(979-981)Gca>Tca p.A327S SARC 6 108395534 108395534 + Missense_Mutation SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 g.chr6:108395534G>T c.322C>A c.(322-324)Ccc>Acc p.P108T SKCM 6 108370531 108370531 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr6:108370531A>C c.875T>G c.(874-876)aTt>aGt p.I292S SKCM 6 108395683 108395683 + Missense_Mutation SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr6:108395683A>G c.173T>C c.(172-174)tTg>tCg p.L58S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 6 108412727 108412727 single base substitution G A intron_variant BOCA-FR 6 108476304 108476304 single base substitution A G intron_variant BRCA-EU 6 108358653 108358653 single base substitution C T downstream_gene_variant BRCA-EU 6 108360923 108360923 single base substitution G A downstream_gene_variant BRCA-EU 6 108361794 108361794 single base substitution C T downstream_gene_variant BRCA-EU 6 108362451 108362451 single base substitution C A downstream_gene_variant BRCA-EU 6 108365063 108365063 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 108365063 108365063 single base substitution C T downstream_gene_variant BRCA-EU 6 108365063 108365063 single base substitution C T exon_variant BRCA-EU 6 108365681 108365681 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 108365681 108365681 single base substitution G A downstream_gene_variant BRCA-EU 6 108365681 108365681 single base substitution G A exon_variant BRCA-EU 6 108365681 108365681 single base substitution G A upstream_gene_variant BRCA-EU 6 108366438 108366438 single base substitution G C intron_variant BRCA-EU 6 108366438 108366438 single base substitution G C upstream_gene_variant BRCA-EU 6 108366671 108366671 insertion of <=200bp - A intron_variant BRCA-EU 6 108366671 108366671 insertion of <=200bp - A upstream_gene_variant BRCA-EU 6 108368264 108368264 single base substitution A T intron_variant BRCA-EU 6 108368264 108368264 single base substitution A T upstream_gene_variant BRCA-EU 6 108370543 108370543 single base substitution A C exon_variant BRCA-EU 6 108370543 108370543 single base substitution A C missense_variant V141G 422T>G BRCA-EU 6 108370543 108370543 single base substitution A C missense_variant V288G 863T>G BRCA-EU 6 108370751 108370751 single base substitution G A exon_variant BRCA-EU 6 108370751 108370751 single base substitution G A intron_variant BRCA-EU 6 108371107 108371107 single base substitution G C intron_variant BRCA-EU 6 108371107 108371107 single base substitution G C upstream_gene_variant BRCA-EU 6 108373064 108373064 single base substitution C G intron_variant BRCA-EU 6 108373064 108373064 single base substitution C G upstream_gene_variant BRCA-EU 6 108374264 108374264 single base substitution T C intron_variant BRCA-EU 6 108374264 108374264 single base substitution T C upstream_gene_variant BRCA-EU 6 108374866 108374866 single base substitution C T intron_variant BRCA-EU 6 108374866 108374866 single base substitution C T upstream_gene_variant BRCA-EU 6 108375556 108375556 single base substitution C G intron_variant BRCA-EU 6 108375556 108375556 single base substitution C G upstream_gene_variant BRCA-EU 6 108377900 108377900 single base substitution C T intron_variant BRCA-EU 6 108378099 108378099 single base substitution G A intron_variant BRCA-EU 6 108379164 108379164 single base substitution T C intron_variant BRCA-EU 6 108380451 108380451 single base substitution A G downstream_gene_variant BRCA-EU 6 108380451 108380451 single base substitution A G intron_variant BRCA-EU 6 108382236 108382236 single base substitution G A downstream_gene_variant BRCA-EU 6 108382236 108382236 single base substitution G A intron_variant BRCA-EU 6 108383625 108383625 single base substitution T C downstream_gene_variant BRCA-EU 6 108383625 108383625 single base substitution T C intron_variant BRCA-EU 6 108384886 108384886 single base substitution G T downstream_gene_variant BRCA-EU 6 108384886 108384886 single base substitution G T intron_variant BRCA-EU 6 108386568 108386568 single base substitution C T intron_variant BRCA-EU 6 108388104 108388104 single base substitution G C intron_variant BRCA-EU 6 108388294 108388294 single base substitution C G intron_variant BRCA-EU 6 108390295 108390295 single base substitution C T intron_variant BRCA-EU 6 108390315 108390315 single base substitution C T intron_variant BRCA-EU 6 108391431 108391431 single base substitution C T intron_variant BRCA-EU 6 108391818 108391818 single base substitution G A intron_variant BRCA-EU 6 108392519 108392519 deletion of <=200bp T - intron_variant BRCA-EU 6 108392999 108393001 deletion of <=200bp AAA - intron_variant BRCA-EU 6 108393578 108393578 single base substitution C G intron_variant BRCA-EU 6 108395248 108395248 single base substitution G A intron_variant BRCA-EU 6 108395507 108395507 insertion of <=200bp - GGTAA exon_variant BRCA-EU 6 108395507 108395507 insertion of <=200bp - GGTAA frameshift_variant P117LT? BRCA-EU 6 108395507 108395507 insertion of <=200bp - GGTAA intron_variant BRCA-EU 6 108396989 108396989 single base substitution C G intron_variant BRCA-EU 6 108396989 108396989 single base substitution C G upstream_gene_variant BRCA-EU 6 108398629 108398629 single base substitution C A intron_variant BRCA-EU 6 108398629 108398629 single base substitution C A upstream_gene_variant BRCA-EU 6 108399054 108399054 deletion of <=200bp T - intron_variant BRCA-EU 6 108399054 108399054 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 108399832 108399837 deletion of <=200bp AGTCCT - intron_variant BRCA-EU 6 108399832 108399837 deletion of <=200bp AGTCCT - upstream_gene_variant BRCA-EU 6 108399991 108399991 single base substitution G A intron_variant BRCA-EU 6 108399991 108399991 single base substitution G A upstream_gene_variant BRCA-EU 6 108400266 108400266 single base substitution A T intron_variant BRCA-EU 6 108400266 108400266 single base substitution A T upstream_gene_variant BRCA-EU 6 108400462 108400462 deletion of <=200bp A - intron_variant BRCA-EU 6 108400462 108400462 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 108401751 108401751 single base substitution C T intron_variant BRCA-EU 6 108404259 108404259 deletion of <=200bp T - intron_variant BRCA-EU 6 108405085 108405085 single base substitution A G intron_variant BRCA-EU 6 108405995 108405995 single base substitution C T intron_variant BRCA-EU 6 108406272 108406272 single base substitution G T intron_variant BRCA-EU 6 108406705 108406705 single base substitution G T intron_variant BRCA-EU 6 108406980 108406980 single base substitution G A intron_variant BRCA-EU 6 108407235 108407235 single base substitution C G intron_variant BRCA-EU 6 108409530 108409530 single base substitution G C intron_variant BRCA-EU 6 108410029 108410029 single base substitution T C intron_variant BRCA-EU 6 108410832 108410832 single base substitution A T intron_variant BRCA-EU 6 108414455 108414455 deletion of <=200bp A - intron_variant BRCA-EU 6 108415821 108415821 single base substitution C T intron_variant BRCA-EU 6 108416419 108416419 single base substitution T C intron_variant BRCA-EU 6 108418413 108418413 single base substitution C A intron_variant BRCA-EU 6 108420817 108420817 single base substitution G T intron_variant BRCA-EU 6 108423492 108423492 single base substitution G C intron_variant BRCA-EU 6 108424053 108424053 single base substitution T A intron_variant BRCA-EU 6 108424473 108424473 single base substitution C G intron_variant BRCA-EU 6 108425066 108425066 single base substitution A C intron_variant BRCA-EU 6 108425394 108425394 deletion of <=200bp A - intron_variant BRCA-EU 6 108426348 108426348 single base substitution G A intron_variant BRCA-EU 6 108426506 108426506 single base substitution G A intron_variant BRCA-EU 6 108426741 108426741 single base substitution C G intron_variant BRCA-EU 6 108427314 108427314 single base substitution G A intron_variant BRCA-EU 6 108427664 108427664 single base substitution G C intron_variant BRCA-EU 6 108428041 108428041 single base substitution G A intron_variant BRCA-EU 6 108428954 108428954 single base substitution C A intron_variant BRCA-EU 6 108429094 108429094 single base substitution C T intron_variant BRCA-EU 6 108430462 108430462 single base substitution C T intron_variant BRCA-EU 6 108432081 108432081 single base substitution C G intron_variant BRCA-EU 6 108432654 108432654 single base substitution C G intron_variant BRCA-EU 6 108432727 108432727 single base substitution T A intron_variant BRCA-EU 6 108433241 108433241 single base substitution G A intron_variant BRCA-EU 6 108433473 108433473 single base substitution C A intron_variant BRCA-EU 6 108435421 108435421 single base substitution G A intron_variant BRCA-EU 6 108436139 108436139 single base substitution G A intron_variant BRCA-EU 6 108436276 108436276 single base substitution G A intron_variant BRCA-EU 6 108436452 108436452 single base substitution G A intron_variant BRCA-EU 6 108436735 108436735 single base substitution C T intron_variant BRCA-EU 6 108437276 108437276 single base substitution C G intron_variant BRCA-EU 6 108438300 108438300 single base substitution C T intron_variant BRCA-EU 6 108438940 108438940 single base substitution C T downstream_gene_variant BRCA-EU 6 108438940 108438940 single base substitution C T intron_variant BRCA-EU 6 108439149 108439149 single base substitution G A downstream_gene_variant BRCA-EU 6 108439149 108439149 single base substitution G A intron_variant BRCA-EU 6 108441721 108441721 single base substitution G A downstream_gene_variant BRCA-EU 6 108441721 108441721 single base substitution G A intron_variant BRCA-EU 6 108441804 108441804 single base substitution C T downstream_gene_variant BRCA-EU 6 108441804 108441804 single base substitution C T intron_variant BRCA-EU 6 108442064 108442064 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 108442064 108442064 deletion of <=200bp A - intron_variant BRCA-EU 6 108443153 108443153 single base substitution C T downstream_gene_variant BRCA-EU 6 108443153 108443153 single base substitution C T intron_variant BRCA-EU 6 108443312 108443312 single base substitution G C downstream_gene_variant BRCA-EU 6 108443312 108443312 single base substitution G C intron_variant BRCA-EU 6 108443383 108443383 single base substitution C T downstream_gene_variant BRCA-EU 6 108443383 108443383 single base substitution C T intron_variant BRCA-EU 6 108444326 108444326 single base substitution A G intron_variant BRCA-EU 6 108444378 108444378 single base substitution T C intron_variant BRCA-EU 6 108444608 108444608 single base substitution G A intron_variant BRCA-EU 6 108444892 108444892 single base substitution G T intron_variant BRCA-EU 6 108445400 108445400 single base substitution G T intron_variant BRCA-EU 6 108445518 108445518 single base substitution T G intron_variant BRCA-EU 6 108448857 108448857 single base substitution G C intron_variant BRCA-EU 6 108448994 108448994 deletion of <=200bp G - intron_variant BRCA-EU 6 108449478 108449478 single base substitution C G intron_variant BRCA-EU 6 108449834 108449834 single base substitution G A intron_variant BRCA-EU 6 108449923 108449923 single base substitution G C intron_variant BRCA-EU 6 108451228 108451228 single base substitution C T intron_variant BRCA-EU 6 108451368 108451368 single base substitution G T intron_variant BRCA-EU 6 108452167 108452167 single base substitution G A intron_variant BRCA-EU 6 108452532 108452532 single base substitution C A intron_variant BRCA-EU 6 108452632 108452632 single base substitution G T intron_variant BRCA-EU 6 108453359 108453359 single base substitution G T intron_variant BRCA-EU 6 108459291 108459291 single base substitution C T intron_variant BRCA-EU 6 108460208 108460208 single base substitution A T intron_variant BRCA-EU 6 108460242 108460242 single base substitution G C intron_variant BRCA-EU 6 108460750 108460750 single base substitution T G intron_variant BRCA-EU 6 108462602 108462602 insertion of <=200bp - A intron_variant BRCA-EU 6 108465491 108465491 deletion of <=200bp A - intron_variant BRCA-EU 6 108465778 108465778 single base substitution C G intron_variant BRCA-EU 6 108465779 108465779 single base substitution C A intron_variant BRCA-EU 6 108466259 108466259 single base substitution A C intron_variant BRCA-EU 6 108466261 108466261 single base substitution A T intron_variant BRCA-EU 6 108466490 108466490 single base substitution G A intron_variant BRCA-EU 6 108467248 108467248 single base substitution A G intron_variant BRCA-EU 6 108469801 108469801 single base substitution A C intron_variant BRCA-EU 6 108470118 108470118 single base substitution G A intron_variant BRCA-EU 6 108471495 108471495 single base substitution G A intron_variant BRCA-EU 6 108471496 108471496 single base substitution A G intron_variant BRCA-EU 6 108471518 108471518 single base substitution C T intron_variant BRCA-EU 6 108472045 108472046 deletion of <=200bp CA - intron_variant BRCA-EU 6 108472057 108472057 single base substitution A T intron_variant BRCA-EU 6 108473633 108473633 single base substitution C T intron_variant BRCA-EU 6 108474968 108474968 single base substitution C G intron_variant BRCA-EU 6 108475275 108475275 single base substitution T A intron_variant BRCA-EU 6 108475324 108475324 single base substitution T C intron_variant BRCA-EU 6 108476289 108476289 single base substitution C G intron_variant BRCA-EU 6 108476314 108476314 single base substitution A G intron_variant BRCA-EU 6 108476954 108476954 single base substitution G A intron_variant BRCA-EU 6 108478498 108478498 single base substitution T C intron_variant BRCA-EU 6 108479676 108479676 single base substitution C G intron_variant BRCA-EU 6 108479904 108479904 single base substitution G T intron_variant BRCA-EU 6 108480004 108480004 single base substitution T C intron_variant BRCA-EU 6 108481523 108481523 single base substitution T C intron_variant BRCA-EU 6 108481662 108481662 single base substitution A G intron_variant BRCA-EU 6 108482151 108482151 single base substitution C G intron_variant BRCA-EU 6 108482379 108482379 single base substitution G A intron_variant BRCA-EU 6 108482392 108482392 single base substitution C T intron_variant BRCA-EU 6 108482424 108482424 single base substitution C T intron_variant BRCA-EU 6 108484050 108484050 single base substitution C T intron_variant BRCA-EU 6 108485035 108485035 single base substitution A T intron_variant BRCA-EU 6 108485670 108485670 single base substitution G A intron_variant BRCA-EU 6 108488544 108488544 single base substitution C T upstream_gene_variant BRCA-EU 6 108488659 108488659 single base substitution C T upstream_gene_variant BRCA-EU 6 108488969 108488969 single base substitution C G upstream_gene_variant BRCA-EU 6 108489756 108489756 single base substitution T A upstream_gene_variant BRCA-EU 6 108490047 108490047 single base substitution G A upstream_gene_variant BRCA-EU 6 108490279 108490279 single base substitution A C upstream_gene_variant BRCA-EU 6 108490420 108490420 deletion of <=200bp C - upstream_gene_variant BRCA-EU 6 108490812 108490812 single base substitution G A upstream_gene_variant BRCA-EU 6 108491372 108491372 single base substitution C T upstream_gene_variant BRCA-EU 6 108491603 108491603 single base substitution C T upstream_gene_variant BRCA-FR 6 108366438 108366438 single base substitution G C intron_variant BRCA-FR 6 108366438 108366438 single base substitution G C upstream_gene_variant BRCA-FR 6 108370751 108370751 single base substitution G A exon_variant BRCA-FR 6 108370751 108370751 single base substitution G A intron_variant BRCA-FR 6 108371107 108371107 single base substitution G C intron_variant BRCA-FR 6 108371107 108371107 single base substitution G C upstream_gene_variant BRCA-FR 6 108381500 108381500 single base substitution C A downstream_gene_variant BRCA-FR 6 108381500 108381500 single base substitution C A intron_variant BRCA-FR 6 108386259 108386259 single base substitution C A intron_variant BRCA-FR 6 108396400 108396400 single base substitution G A intron_variant BRCA-FR 6 108396400 108396400 single base substitution G A upstream_gene_variant BRCA-FR 6 108396989 108396989 single base substitution C G intron_variant BRCA-FR 6 108396989 108396989 single base substitution C G upstream_gene_variant BRCA-FR 6 108426348 108426348 single base substitution G A intron_variant BRCA-FR 6 108426506 108426506 single base substitution G A intron_variant BRCA-FR 6 108429284 108429284 single base substitution G T intron_variant BRCA-FR 6 108436139 108436139 single base substitution G A intron_variant BRCA-FR 6 108438300 108438300 single base substitution C T intron_variant BRCA-FR 6 108449834 108449834 single base substitution G A intron_variant BRCA-FR 6 108451228 108451228 single base substitution C T intron_variant BRCA-FR 6 108452167 108452167 single base substitution G A intron_variant BRCA-FR 6 108472937 108472937 single base substitution C G intron_variant BRCA-FR 6 108473633 108473633 single base substitution C T intron_variant BRCA-FR 6 108474645 108474645 single base substitution C T intron_variant BRCA-FR 6 108482424 108482424 single base substitution C T intron_variant BRCA-FR 6 108488659 108488659 single base substitution C T upstream_gene_variant BRCA-KR 6 108395490 108395490 single base substitution G C exon_variant BRCA-KR 6 108395490 108395490 single base substitution G C intron_variant BRCA-KR 6 108395490 108395490 single base substitution G C synonymous_variant V122V 366C>G BRCA-UK 6 108370384 108370384 single base substitution C G intron_variant BRCA-UK 6 108370384 108370384 single base substitution C G upstream_gene_variant BRCA-UK 6 108383796 108383796 single base substitution G A downstream_gene_variant BRCA-UK 6 108383796 108383796 single base substitution G A intron_variant BRCA-UK 6 108408125 108408125 single base substitution G A intron_variant BRCA-UK 6 108411495 108411495 single base substitution A G intron_variant BRCA-UK 6 108423977 108423977 single base substitution C T intron_variant BRCA-UK 6 108426144 108426144 single base substitution G C intron_variant BRCA-UK 6 108476954 108476954 single base substitution G A intron_variant BRCA-US 6 108395499 108395499 single base substitution G A exon_variant BRCA-US 6 108395499 108395499 single base substitution G A intron_variant BRCA-US 6 108395499 108395499 single base substitution G A synonymous_variant F119F 357C>T BTCA-JP 6 108372189 108372189 single base substitution C T intron_variant BTCA-JP 6 108372189 108372189 single base substitution C T upstream_gene_variant CESC-US 6 108365368 108365368 single base substitution G C 3_prime_UTR_variant CESC-US 6 108365368 108365368 single base substitution G C downstream_gene_variant CESC-US 6 108365368 108365368 single base substitution G C exon_variant CLLE-ES 6 108374126 108374126 single base substitution C A intron_variant CLLE-ES 6 108374126 108374126 single base substitution C A upstream_gene_variant CLLE-ES 6 108378062 108378062 single base substitution T A intron_variant CLLE-ES 6 108433966 108433966 single base substitution A G intron_variant CLLE-ES 6 108443728 108443728 single base substitution C A exon_variant CLLE-ES 6 108443728 108443728 single base substitution C A intron_variant CLLE-ES 6 108445165 108445165 single base substitution A G intron_variant CLLE-ES 6 108457246 108457246 single base substitution G A intron_variant CLLE-ES 6 108470820 108470820 single base substitution C G intron_variant COAD-US 6 108370486 108370486 single base substitution G C exon_variant COAD-US 6 108370486 108370486 single base substitution G C stop_gained S160* 479C>G COAD-US 6 108370486 108370486 single base substitution G C stop_gained S307* 920C>G COAD-US 6 108372296 108372296 insertion of <=200bp - T frameshift_variant M241I? COAD-US 6 108372296 108372296 insertion of <=200bp - T frameshift_variant M94I? COAD-US 6 108372296 108372296 insertion of <=200bp - T upstream_gene_variant COAD-US 6 108372297 108372297 deletion of <=200bp T - frameshift_variant M241 COAD-US 6 108372297 108372297 deletion of <=200bp T - frameshift_variant M94 COAD-US 6 108372297 108372297 deletion of <=200bp T - upstream_gene_variant COCA-CN 6 108368074 108368074 single base substitution A T intron_variant COCA-CN 6 108368074 108368074 single base substitution A T upstream_gene_variant COCA-CN 6 108371606 108371606 single base substitution C T intron_variant COCA-CN 6 108371606 108371606 single base substitution C T upstream_gene_variant COCA-CN 6 108383783 108383783 single base substitution G A downstream_gene_variant COCA-CN 6 108383783 108383783 single base substitution G A intron_variant COCA-CN 6 108408907 108408907 single base substitution C G intron_variant COCA-CN 6 108418198 108418198 single base substitution T G intron_variant COCA-CN 6 108419935 108419935 single base substitution C T intron_variant COCA-CN 6 108431234 108431234 single base substitution C T intron_variant COCA-CN 6 108437362 108437362 single base substitution A T intron_variant COCA-CN 6 108437366 108437366 single base substitution A T intron_variant COCA-CN 6 108438048 108438048 single base substitution G A intron_variant COCA-CN 6 108464839 108464839 single base substitution T A intron_variant COCA-CN 6 108464841 108464841 single base substitution A T intron_variant COCA-CN 6 108486095 108486095 single base substitution G A intron_variant COCA-CN 6 108489234 108489234 single base substitution T C upstream_gene_variant COCA-CN 6 108491165 108491165 single base substitution A C upstream_gene_variant EOPC-DE 6 108431243 108431243 single base substitution C T intron_variant EOPC-DE 6 108441059 108441059 single base substitution C T downstream_gene_variant EOPC-DE 6 108441059 108441059 single base substitution C T intron_variant EOPC-DE 6 108463302 108463302 single base substitution G A intron_variant ESAD-UK 6 108361876 108361876 single base substitution C T downstream_gene_variant ESAD-UK 6 108362617 108362617 single base substitution C A 3_prime_UTR_variant ESAD-UK 6 108362617 108362617 single base substitution C A downstream_gene_variant ESAD-UK 6 108363628 108363628 single base substitution T C 3_prime_UTR_variant ESAD-UK 6 108363628 108363628 single base substitution T C downstream_gene_variant ESAD-UK 6 108363628 108363628 single base substitution T C intron_variant ESAD-UK 6 108364389 108364389 single base substitution A G 3_prime_UTR_variant ESAD-UK 6 108364389 108364389 single base substitution A G downstream_gene_variant ESAD-UK 6 108364389 108364389 single base substitution A G exon_variant ESAD-UK 6 108364519 108364519 single base substitution T A 3_prime_UTR_variant ESAD-UK 6 108364519 108364519 single base substitution T A downstream_gene_variant ESAD-UK 6 108364519 108364519 single base substitution T A exon_variant ESAD-UK 6 108366196 108366196 single base substitution C T intron_variant ESAD-UK 6 108366196 108366196 single base substitution C T upstream_gene_variant ESAD-UK 6 108370435 108370435 insertion of <=200bp - C intron_variant ESAD-UK 6 108370435 108370435 insertion of <=200bp - C upstream_gene_variant ESAD-UK 6 108371071 108371071 single base substitution C T intron_variant ESAD-UK 6 108371071 108371071 single base substitution C T upstream_gene_variant ESAD-UK 6 108371300 108371300 single base substitution A T intron_variant ESAD-UK 6 108371300 108371300 single base substitution A T upstream_gene_variant ESAD-UK 6 108372297 108372297 insertion of <=200bp - T frameshift_variant M241N? ESAD-UK 6 108372297 108372297 insertion of <=200bp - T frameshift_variant M94N? ESAD-UK 6 108372297 108372297 insertion of <=200bp - T upstream_gene_variant ESAD-UK 6 108374398 108374398 single base substitution A T intron_variant ESAD-UK 6 108374398 108374398 single base substitution A T upstream_gene_variant ESAD-UK 6 108375701 108375701 single base substitution T C missense_variant N203S 608A>G ESAD-UK 6 108375701 108375701 single base substitution T C missense_variant N56S 167A>G ESAD-UK 6 108375701 108375701 single base substitution T C upstream_gene_variant ESAD-UK 6 108376408 108376408 single base substitution C T intron_variant ESAD-UK 6 108376408 108376408 single base substitution C T upstream_gene_variant ESAD-UK 6 108378287 108378287 single base substitution C T intron_variant ESAD-UK 6 108381074 108381074 single base substitution C T downstream_gene_variant ESAD-UK 6 108381074 108381074 single base substitution C T intron_variant ESAD-UK 6 108382136 108382136 single base substitution A G downstream_gene_variant ESAD-UK 6 108382136 108382136 single base substitution A G intron_variant ESAD-UK 6 108382256 108382256 single base substitution A C downstream_gene_variant ESAD-UK 6 108382256 108382256 single base substitution A C intron_variant ESAD-UK 6 108383549 108383549 single base substitution G T downstream_gene_variant ESAD-UK 6 108383549 108383549 single base substitution G T intron_variant ESAD-UK 6 108385471 108385479 deletion of <=200bp ACTTCTGGC - 5_prime_UTR_variant ESAD-UK 6 108385471 108385479 deletion of <=200bp ACTTCTGGC - exon_variant ESAD-UK 6 108385471 108385479 deletion of <=200bp ACTTCTGGC - inframe_deletion ARS143 ESAD-UK 6 108387032 108387032 single base substitution T C intron_variant ESAD-UK 6 108392811 108392811 single base substitution C A intron_variant ESAD-UK 6 108393275 108393275 single base substitution G A intron_variant ESAD-UK 6 108393360 108393360 single base substitution C A intron_variant ESAD-UK 6 108396471 108396471 single base substitution A T intron_variant ESAD-UK 6 108396471 108396471 single base substitution A T upstream_gene_variant ESAD-UK 6 108399111 108399111 single base substitution C A intron_variant ESAD-UK 6 108399111 108399111 single base substitution C A upstream_gene_variant ESAD-UK 6 108399348 108399348 single base substitution G A intron_variant ESAD-UK 6 108399348 108399348 single base substitution G A upstream_gene_variant ESAD-UK 6 108399619 108399619 single base substitution C T intron_variant ESAD-UK 6 108399619 108399619 single base substitution C T upstream_gene_variant ESAD-UK 6 108400064 108400064 single base substitution C G intron_variant ESAD-UK 6 108400064 108400064 single base substitution C G upstream_gene_variant ESAD-UK 6 108400067 108400067 single base substitution G A intron_variant ESAD-UK 6 108400067 108400067 single base substitution G A upstream_gene_variant ESAD-UK 6 108400941 108400941 single base substitution T C intron_variant ESAD-UK 6 108400941 108400941 single base substitution T C upstream_gene_variant ESAD-UK 6 108402199 108402199 single base substitution T C intron_variant ESAD-UK 6 108402464 108402464 single base substitution G C intron_variant ESAD-UK 6 108406752 108406752 single base substitution C G intron_variant ESAD-UK 6 108408120 108408120 single base substitution C A intron_variant ESAD-UK 6 108408889 108408890 deletion of <=200bp TA - intron_variant ESAD-UK 6 108409144 108409144 single base substitution T A intron_variant ESAD-UK 6 108409390 108409390 deletion of <=200bp T - intron_variant ESAD-UK 6 108409729 108409729 deletion of <=200bp A - intron_variant ESAD-UK 6 108410676 108410676 single base substitution T A intron_variant ESAD-UK 6 108410860 108410860 single base substitution C T intron_variant ESAD-UK 6 108415848 108415848 single base substitution C T intron_variant ESAD-UK 6 108415963 108415963 insertion of <=200bp - T intron_variant ESAD-UK 6 108415963 108415963 single base substitution A T intron_variant ESAD-UK 6 108416641 108416641 single base substitution A G intron_variant ESAD-UK 6 108418767 108418767 single base substitution G A intron_variant ESAD-UK 6 108419935 108419935 single base substitution C T intron_variant ESAD-UK 6 108424156 108424156 single base substitution G A intron_variant ESAD-UK 6 108424573 108424573 single base substitution G T intron_variant ESAD-UK 6 108426036 108426036 single base substitution A C intron_variant ESAD-UK 6 108427715 108427715 single base substitution T G intron_variant ESAD-UK 6 108427772 108427772 single base substitution G A intron_variant ESAD-UK 6 108428758 108428758 insertion of <=200bp - T intron_variant ESAD-UK 6 108428758 108428758 single base substitution A T intron_variant ESAD-UK 6 108428879 108428879 single base substitution T G intron_variant ESAD-UK 6 108432175 108432175 single base substitution A G intron_variant ESAD-UK 6 108432994 108432994 single base substitution C A intron_variant ESAD-UK 6 108433910 108433910 single base substitution T C intron_variant ESAD-UK 6 108436017 108436017 single base substitution A C intron_variant ESAD-UK 6 108439081 108439081 single base substitution G T downstream_gene_variant ESAD-UK 6 108439081 108439081 single base substitution G T intron_variant ESAD-UK 6 108441834 108441834 single base substitution A C downstream_gene_variant ESAD-UK 6 108441834 108441834 single base substitution A C intron_variant ESAD-UK 6 108442216 108442216 insertion of <=200bp - C downstream_gene_variant ESAD-UK 6 108442216 108442216 insertion of <=200bp - C intron_variant ESAD-UK 6 108442593 108442593 single base substitution C G downstream_gene_variant ESAD-UK 6 108442593 108442593 single base substitution C G intron_variant ESAD-UK 6 108444245 108444245 single base substitution G T intron_variant ESAD-UK 6 108444342 108444342 single base substitution G A intron_variant ESAD-UK 6 108447844 108447844 single base substitution C T intron_variant ESAD-UK 6 108448717 108448717 single base substitution A G intron_variant ESAD-UK 6 108448815 108448815 single base substitution A G intron_variant ESAD-UK 6 108449085 108449085 single base substitution T C intron_variant ESAD-UK 6 108452444 108452444 single base substitution C T intron_variant ESAD-UK 6 108453773 108453773 single base substitution C T intron_variant ESAD-UK 6 108453857 108453857 single base substitution G A intron_variant ESAD-UK 6 108454292 108454292 single base substitution G C intron_variant ESAD-UK 6 108454382 108454382 single base substitution A G intron_variant ESAD-UK 6 108456266 108456266 single base substitution C A intron_variant ESAD-UK 6 108456420 108456420 single base substitution G A intron_variant ESAD-UK 6 108456856 108456856 single base substitution C T intron_variant ESAD-UK 6 108458047 108458047 single base substitution C T intron_variant ESAD-UK 6 108458602 108458602 single base substitution A T intron_variant ESAD-UK 6 108461732 108461732 single base substitution C T intron_variant ESAD-UK 6 108462500 108462500 insertion of <=200bp - A intron_variant ESAD-UK 6 108465094 108465094 single base substitution C T intron_variant ESAD-UK 6 108465491 108465491 deletion of <=200bp A - intron_variant ESAD-UK 6 108467205 108467205 single base substitution G A intron_variant ESAD-UK 6 108468901 108468901 single base substitution C T intron_variant ESAD-UK 6 108471696 108471696 deletion of <=200bp A - intron_variant ESAD-UK 6 108472865 108472865 single base substitution G A intron_variant ESAD-UK 6 108474356 108474356 single base substitution G A intron_variant ESAD-UK 6 108475227 108475227 single base substitution G A intron_variant ESAD-UK 6 108481831 108481831 single base substitution A C intron_variant ESAD-UK 6 108482093 108482093 single base substitution G A intron_variant ESAD-UK 6 108482282 108482282 single base substitution G A intron_variant ESAD-UK 6 108483957 108483957 single base substitution C T intron_variant ESAD-UK 6 108485271 108485271 single base substitution G T intron_variant ESAD-UK 6 108485303 108485303 single base substitution G A intron_variant ESAD-UK 6 108486998 108486998 single base substitution G C intron_variant ESAD-UK 6 108488119 108488119 single base substitution G A upstream_gene_variant ESAD-UK 6 108491808 108491808 insertion of <=200bp - A upstream_gene_variant ESAD-UK 6 108491904 108491904 single base substitution G A upstream_gene_variant ESCA-CN 6 108372324 108372324 single base substitution T C missense_variant S232G 694A>G ESCA-CN 6 108372324 108372324 single base substitution T C missense_variant S85G 253A>G ESCA-CN 6 108372324 108372324 single base substitution T C upstream_gene_variant ESCA-CN 6 108489263 108489263 single base substitution G C upstream_gene_variant LAML-KR 6 108363638 108363638 single base substitution G T 3_prime_UTR_variant LAML-KR 6 108363638 108363638 single base substitution G T downstream_gene_variant LAML-KR 6 108363638 108363638 single base substitution G T intron_variant LAML-KR 6 108367515 108367515 single base substitution T C intron_variant LAML-KR 6 108367515 108367515 single base substitution T C upstream_gene_variant LAML-KR 6 108464841 108464841 single base substitution A T intron_variant LICA-CN 6 108385494 108385494 single base substitution C A 5_prime_UTR_variant LICA-CN 6 108385494 108385494 single base substitution C A exon_variant LICA-CN 6 108385494 108385494 single base substitution C A stop_gained E138* 412G>T LICA-FR 6 108360969 108360969 single base substitution C T downstream_gene_variant LICA-FR 6 108376301 108376301 single base substitution T C intron_variant LICA-FR 6 108376301 108376301 single base substitution T C upstream_gene_variant LICA-FR 6 108389110 108389110 single base substitution T C intron_variant LICA-FR 6 108395557 108395557 single base substitution C T exon_variant LICA-FR 6 108395557 108395557 single base substitution C T intron_variant LICA-FR 6 108395557 108395557 single base substitution C T missense_variant G100E 299G>A LICA-FR 6 108432340 108432340 single base substitution T A intron_variant LICA-FR 6 108442752 108442752 single base substitution G A downstream_gene_variant LICA-FR 6 108442752 108442752 single base substitution G A intron_variant LICA-FR 6 108463713 108463713 single base substitution C T intron_variant LICA-FR 6 108479870 108479870 single base substitution G A intron_variant LIHC-US 6 108372287 108372287 single base substitution A G missense_variant L244P 731T>C LIHC-US 6 108372287 108372287 single base substitution A G missense_variant L97P 290T>C LIHC-US 6 108372287 108372287 single base substitution A G upstream_gene_variant LIHC-US 6 108372335 108372335 single base substitution T A missense_variant Y228F 683A>T LIHC-US 6 108372335 108372335 single base substitution T A missense_variant Y81F 242A>T LIHC-US 6 108372335 108372335 single base substitution T A upstream_gene_variant LINC-JP 6 108359642 108359642 single base substitution G A downstream_gene_variant LINC-JP 6 108363537 108363537 single base substitution A T 3_prime_UTR_variant LINC-JP 6 108363537 108363537 single base substitution A T downstream_gene_variant LINC-JP 6 108363537 108363537 single base substitution A T intron_variant LINC-JP 6 108381202 108381202 single base substitution A G downstream_gene_variant LINC-JP 6 108381202 108381202 single base substitution A G intron_variant LINC-JP 6 108385603 108385603 insertion of <=200bp - T intron_variant LINC-JP 6 108387724 108387724 single base substitution G C intron_variant LINC-JP 6 108393780 108393780 single base substitution T C intron_variant LINC-JP 6 108398197 108398197 insertion of <=200bp - AA intron_variant LINC-JP 6 108398197 108398197 insertion of <=200bp - AA upstream_gene_variant LINC-JP 6 108409612 108409612 single base substitution T A intron_variant LINC-JP 6 108413359 108413359 single base substitution C T intron_variant LINC-JP 6 108416496 108416496 single base substitution G C intron_variant LINC-JP 6 108417279 108417279 single base substitution A G intron_variant LINC-JP 6 108418131 108418131 single base substitution C T intron_variant LINC-JP 6 108418461 108418461 single base substitution G A intron_variant LINC-JP 6 108420153 108420153 single base substitution C T intron_variant LINC-JP 6 108426538 108426538 single base substitution G A intron_variant LINC-JP 6 108427224 108427224 single base substitution T C intron_variant LINC-JP 6 108427872 108427872 single base substitution A G intron_variant LINC-JP 6 108435508 108435508 single base substitution C T intron_variant LINC-JP 6 108471757 108471757 single base substitution A C intron_variant LINC-JP 6 108473915 108473915 single base substitution T C intron_variant LIRI-JP 6 108359028 108359028 single base substitution T C downstream_gene_variant LIRI-JP 6 108359048 108359048 single base substitution T C downstream_gene_variant LIRI-JP 6 108362692 108362692 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 108362692 108362692 single base substitution T C downstream_gene_variant LIRI-JP 6 108362692 108362692 single base substitution T C exon_variant LIRI-JP 6 108362962 108362962 single base substitution G A 3_prime_UTR_variant LIRI-JP 6 108362962 108362962 single base substitution G A downstream_gene_variant LIRI-JP 6 108362962 108362962 single base substitution G A exon_variant LIRI-JP 6 108368933 108368933 single base substitution G A intron_variant LIRI-JP 6 108368933 108368933 single base substitution G A upstream_gene_variant LIRI-JP 6 108369123 108369123 single base substitution T C intron_variant LIRI-JP 6 108369123 108369123 single base substitution T C upstream_gene_variant LIRI-JP 6 108372785 108372785 single base substitution C A intron_variant LIRI-JP 6 108372785 108372785 single base substitution C A upstream_gene_variant LIRI-JP 6 108374552 108374552 single base substitution T C intron_variant LIRI-JP 6 108374552 108374552 single base substitution T C upstream_gene_variant LIRI-JP 6 108374788 108374788 single base substitution C T intron_variant LIRI-JP 6 108374788 108374788 single base substitution C T upstream_gene_variant LIRI-JP 6 108375081 108375081 single base substitution T C intron_variant LIRI-JP 6 108375081 108375081 single base substitution T C upstream_gene_variant LIRI-JP 6 108377995 108377995 single base substitution A C intron_variant LIRI-JP 6 108380523 108380523 single base substitution T C downstream_gene_variant LIRI-JP 6 108380523 108380523 single base substitution T C intron_variant LIRI-JP 6 108381506 108381506 single base substitution A C downstream_gene_variant LIRI-JP 6 108381506 108381506 single base substitution A C intron_variant LIRI-JP 6 108381919 108381919 single base substitution T C downstream_gene_variant LIRI-JP 6 108381919 108381919 single base substitution T C intron_variant LIRI-JP 6 108382581 108382581 single base substitution T G downstream_gene_variant LIRI-JP 6 108382581 108382581 single base substitution T G intron_variant LIRI-JP 6 108382721 108382721 single base substitution A C downstream_gene_variant LIRI-JP 6 108382721 108382721 single base substitution A C intron_variant LIRI-JP 6 108382923 108382923 single base substitution G T downstream_gene_variant LIRI-JP 6 108382923 108382923 single base substitution G T intron_variant LIRI-JP 6 108387221 108387221 single base substitution G A intron_variant LIRI-JP 6 108389994 108389994 single base substitution C T intron_variant LIRI-JP 6 108399781 108399781 single base substitution T A intron_variant LIRI-JP 6 108399781 108399781 single base substitution T A upstream_gene_variant LIRI-JP 6 108401566 108401566 single base substitution T C intron_variant LIRI-JP 6 108405001 108405001 single base substitution G A intron_variant LIRI-JP 6 108406128 108406128 single base substitution A G intron_variant LIRI-JP 6 108407077 108407077 single base substitution T C intron_variant LIRI-JP 6 108411114 108411114 single base substitution A T intron_variant LIRI-JP 6 108412053 108412053 single base substitution C T intron_variant LIRI-JP 6 108412104 108412104 single base substitution G A intron_variant LIRI-JP 6 108412975 108412975 single base substitution T G intron_variant LIRI-JP 6 108414014 108414014 single base substitution T C intron_variant LIRI-JP 6 108414094 108414094 single base substitution C T intron_variant LIRI-JP 6 108414285 108414285 single base substitution C A intron_variant LIRI-JP 6 108417082 108417082 single base substitution T A intron_variant LIRI-JP 6 108418953 108418953 single base substitution C T intron_variant LIRI-JP 6 108419935 108419935 single base substitution C T intron_variant LIRI-JP 6 108420645 108420645 single base substitution T A intron_variant LIRI-JP 6 108421277 108421277 single base substitution G T intron_variant LIRI-JP 6 108422579 108422579 single base substitution A T intron_variant LIRI-JP 6 108425181 108425181 single base substitution G T intron_variant LIRI-JP 6 108427327 108427327 single base substitution A G intron_variant LIRI-JP 6 108428173 108428173 single base substitution A C intron_variant LIRI-JP 6 108428899 108428899 single base substitution G A intron_variant LIRI-JP 6 108430388 108430388 single base substitution A T intron_variant LIRI-JP 6 108431106 108431106 single base substitution T A intron_variant LIRI-JP 6 108432900 108432900 single base substitution T C intron_variant LIRI-JP 6 108433637 108433637 single base substitution A G intron_variant LIRI-JP 6 108434068 108434068 single base substitution T A intron_variant LIRI-JP 6 108435223 108435223 single base substitution C A intron_variant LIRI-JP 6 108436818 108436818 single base substitution G A intron_variant LIRI-JP 6 108442309 108442309 single base substitution G A downstream_gene_variant LIRI-JP 6 108442309 108442309 single base substitution G A intron_variant LIRI-JP 6 108442999 108442999 single base substitution C A downstream_gene_variant LIRI-JP 6 108442999 108442999 single base substitution C A intron_variant LIRI-JP 6 108445071 108445071 single base substitution T C intron_variant LIRI-JP 6 108447164 108447164 single base substitution C G intron_variant LIRI-JP 6 108449663 108449663 single base substitution G C intron_variant LIRI-JP 6 108452599 108452599 single base substitution G A intron_variant LIRI-JP 6 108454687 108454687 single base substitution G A intron_variant LIRI-JP 6 108455298 108455298 single base substitution A G intron_variant LIRI-JP 6 108455631 108455631 single base substitution G T intron_variant LIRI-JP 6 108455815 108455815 single base substitution C G intron_variant LIRI-JP 6 108456596 108456596 single base substitution A C intron_variant LIRI-JP 6 108459460 108459460 single base substitution C T intron_variant LIRI-JP 6 108459647 108459647 single base substitution T G intron_variant LIRI-JP 6 108460672 108460672 single base substitution A G intron_variant LIRI-JP 6 108463459 108463459 single base substitution A G intron_variant LIRI-JP 6 108465251 108465251 single base substitution T C intron_variant LIRI-JP 6 108470904 108470904 single base substitution A T intron_variant LIRI-JP 6 108470951 108470951 single base substitution C T intron_variant LIRI-JP 6 108471545 108471545 single base substitution A G intron_variant LIRI-JP 6 108473414 108473414 single base substitution T C intron_variant LIRI-JP 6 108475345 108475345 single base substitution A G intron_variant LIRI-JP 6 108476570 108476570 single base substitution C T intron_variant LIRI-JP 6 108476584 108476584 single base substitution A G intron_variant LIRI-JP 6 108476940 108476940 single base substitution A C intron_variant LIRI-JP 6 108477845 108477845 single base substitution C T intron_variant LIRI-JP 6 108480734 108480734 single base substitution C T intron_variant LIRI-JP 6 108481304 108481304 single base substitution A T intron_variant LIRI-JP 6 108482456 108482456 single base substitution T G intron_variant LIRI-JP 6 108483844 108483844 single base substitution C T intron_variant LIRI-JP 6 108484165 108484165 single base substitution C T intron_variant LIRI-JP 6 108484928 108484928 deletion of <=200bp C - intron_variant LIRI-JP 6 108485915 108485915 single base substitution G A intron_variant LIRI-JP 6 108487033 108487033 single base substitution G A 5_prime_UTR_variant LIRI-JP 6 108487033 108487033 single base substitution G A exon_variant LIRI-JP 6 108488930 108488930 single base substitution C A upstream_gene_variant LIRI-JP 6 108489568 108489568 single base substitution T C upstream_gene_variant LIRI-JP 6 108491910 108491910 single base substitution G A upstream_gene_variant LUSC-KR 6 108358414 108358414 single base substitution G C downstream_gene_variant LUSC-KR 6 108359550 108359550 single base substitution G A downstream_gene_variant LUSC-KR 6 108360414 108360414 single base substitution A T downstream_gene_variant LUSC-KR 6 108363936 108363936 single base substitution G A 3_prime_UTR_variant LUSC-KR 6 108363936 108363936 single base substitution G A downstream_gene_variant LUSC-KR 6 108363936 108363936 single base substitution G A exon_variant LUSC-KR 6 108364637 108364637 single base substitution T C 3_prime_UTR_variant LUSC-KR 6 108364637 108364637 single base substitution T C downstream_gene_variant LUSC-KR 6 108364637 108364637 single base substitution T C exon_variant LUSC-KR 6 108364655 108364655 single base substitution A G 3_prime_UTR_variant LUSC-KR 6 108364655 108364655 single base substitution A G downstream_gene_variant LUSC-KR 6 108364655 108364655 single base substitution A G exon_variant LUSC-KR 6 108366191 108366191 single base substitution T C intron_variant LUSC-KR 6 108366191 108366191 single base substitution T C upstream_gene_variant LUSC-KR 6 108370010 108370010 single base substitution C T intron_variant LUSC-KR 6 108370010 108370010 single base substitution C T upstream_gene_variant LUSC-KR 6 108372156 108372156 single base substitution C A intron_variant LUSC-KR 6 108372156 108372156 single base substitution C A upstream_gene_variant LUSC-KR 6 108373656 108373656 single base substitution G T intron_variant LUSC-KR 6 108373656 108373656 single base substitution G T upstream_gene_variant LUSC-KR 6 108374895 108374895 single base substitution C A intron_variant LUSC-KR 6 108374895 108374895 single base substitution C A upstream_gene_variant LUSC-KR 6 108383675 108383675 single base substitution G A downstream_gene_variant LUSC-KR 6 108383675 108383675 single base substitution G A intron_variant LUSC-KR 6 108384088 108384088 single base substitution C T downstream_gene_variant LUSC-KR 6 108384088 108384088 single base substitution C T intron_variant LUSC-KR 6 108391229 108391229 single base substitution C A intron_variant LUSC-KR 6 108398055 108398055 single base substitution C G intron_variant LUSC-KR 6 108398055 108398055 single base substitution C G upstream_gene_variant LUSC-KR 6 108402625 108402625 single base substitution C G intron_variant LUSC-KR 6 108411271 108411271 single base substitution G A intron_variant LUSC-KR 6 108413299 108413299 single base substitution G A intron_variant LUSC-KR 6 108418990 108418990 single base substitution A G intron_variant LUSC-KR 6 108421796 108421796 single base substitution G T intron_variant LUSC-KR 6 108422903 108422903 single base substitution A T intron_variant LUSC-KR 6 108423345 108423345 single base substitution T A intron_variant LUSC-KR 6 108429059 108429059 single base substitution C T intron_variant LUSC-KR 6 108431103 108431103 single base substitution T C intron_variant LUSC-KR 6 108431836 108431836 single base substitution A C intron_variant LUSC-KR 6 108432379 108432379 single base substitution G C intron_variant LUSC-KR 6 108434149 108434149 single base substitution C T intron_variant LUSC-KR 6 108434271 108434271 single base substitution C T intron_variant LUSC-KR 6 108440242 108440242 single base substitution A T downstream_gene_variant LUSC-KR 6 108440242 108440242 single base substitution A T intron_variant LUSC-KR 6 108442785 108442785 single base substitution C T downstream_gene_variant LUSC-KR 6 108442785 108442785 single base substitution C T intron_variant LUSC-KR 6 108442842 108442842 single base substitution C A downstream_gene_variant LUSC-KR 6 108442842 108442842 single base substitution C A intron_variant LUSC-KR 6 108443645 108443645 single base substitution G T exon_variant LUSC-KR 6 108443645 108443645 single base substitution G T intron_variant LUSC-KR 6 108446511 108446511 single base substitution C G intron_variant LUSC-KR 6 108449796 108449796 single base substitution A G intron_variant LUSC-KR 6 108449804 108449804 single base substitution C G intron_variant LUSC-KR 6 108450309 108450309 single base substitution C A intron_variant LUSC-KR 6 108452203 108452203 single base substitution C A intron_variant LUSC-KR 6 108453894 108453894 single base substitution C T intron_variant LUSC-KR 6 108455383 108455383 single base substitution C G intron_variant LUSC-KR 6 108456104 108456104 single base substitution C T intron_variant LUSC-KR 6 108460415 108460415 single base substitution C G intron_variant LUSC-KR 6 108463591 108463591 single base substitution C A intron_variant LUSC-KR 6 108466540 108466540 single base substitution C T intron_variant LUSC-KR 6 108467781 108467781 single base substitution C A intron_variant LUSC-KR 6 108468766 108468766 single base substitution A G intron_variant LUSC-KR 6 108469024 108469024 single base substitution C T intron_variant LUSC-KR 6 108472700 108472700 single base substitution A T intron_variant LUSC-KR 6 108475769 108475769 single base substitution G T intron_variant LUSC-KR 6 108475852 108475852 single base substitution C T intron_variant LUSC-KR 6 108476831 108476831 single base substitution G C intron_variant LUSC-KR 6 108478159 108478159 single base substitution A G intron_variant LUSC-KR 6 108478991 108478991 single base substitution C G intron_variant LUSC-KR 6 108479140 108479140 single base substitution G C intron_variant LUSC-KR 6 108484311 108484311 single base substitution G T intron_variant LUSC-KR 6 108484396 108484396 single base substitution C A intron_variant LUSC-KR 6 108484602 108484602 single base substitution C T intron_variant LUSC-KR 6 108485121 108485121 single base substitution C A intron_variant LUSC-KR 6 108485861 108485861 single base substitution G T intron_variant LUSC-KR 6 108491587 108491587 single base substitution C G upstream_gene_variant LUSC-US 6 108375753 108375753 single base substitution T A missense_variant T186S 556A>T LUSC-US 6 108375753 108375753 single base substitution T A missense_variant T39S 115A>T LUSC-US 6 108375753 108375753 single base substitution T A upstream_gene_variant LUSC-US 6 108395464 108395464 single base substitution C A exon_variant LUSC-US 6 108395464 108395464 single base substitution C A intron_variant LUSC-US 6 108395464 108395464 single base substitution C A missense_variant R131L 392G>T MALY-DE 6 108366710 108366710 single base substitution A C intron_variant MALY-DE 6 108366710 108366710 single base substitution A C upstream_gene_variant MALY-DE 6 108368518 108368518 single base substitution T C intron_variant MALY-DE 6 108368518 108368518 single base substitution T C upstream_gene_variant MALY-DE 6 108372330 108372330 deletion of <=200bp T - frameshift_variant T230 MALY-DE 6 108372330 108372330 deletion of <=200bp T - frameshift_variant T83 MALY-DE 6 108372330 108372330 deletion of <=200bp T - upstream_gene_variant MALY-DE 6 108381627 108381627 single base substitution A C downstream_gene_variant MALY-DE 6 108381627 108381627 single base substitution A C intron_variant MALY-DE 6 108384190 108384190 single base substitution A C downstream_gene_variant MALY-DE 6 108384190 108384190 single base substitution A C intron_variant MALY-DE 6 108393741 108393741 single base substitution G C intron_variant MALY-DE 6 108404259 108404259 insertion of <=200bp - T intron_variant MALY-DE 6 108406879 108406879 single base substitution A C intron_variant MALY-DE 6 108408024 108408024 single base substitution G A intron_variant MALY-DE 6 108410035 108410035 single base substitution G C intron_variant MALY-DE 6 108414929 108414929 single base substitution C A intron_variant MALY-DE 6 108416847 108416847 deletion of <=200bp T - intron_variant MALY-DE 6 108417489 108417489 single base substitution A C intron_variant MALY-DE 6 108418917 108418917 single base substitution G C intron_variant MALY-DE 6 108425364 108425364 single base substitution A G intron_variant MALY-DE 6 108428964 108428964 single base substitution G A intron_variant MALY-DE 6 108430098 108430099 deletion of <=200bp AC - intron_variant MALY-DE 6 108431494 108431494 deletion of <=200bp A - intron_variant MALY-DE 6 108438616 108438617 deletion of <=200bp TG - downstream_gene_variant MALY-DE 6 108438616 108438617 deletion of <=200bp TG - intron_variant MALY-DE 6 108441959 108441959 single base substitution A C downstream_gene_variant MALY-DE 6 108441959 108441959 single base substitution A C intron_variant MALY-DE 6 108452706 108452706 insertion of <=200bp - A intron_variant MALY-DE 6 108453717 108453717 single base substitution C T intron_variant MALY-DE 6 108462331 108462350 deletion of <=200bp TAGTAAGAGTCAGTAAGAGG - intron_variant MALY-DE 6 108465366 108465366 single base substitution C A intron_variant MALY-DE 6 108472802 108472802 single base substitution T A intron_variant MALY-DE 6 108477017 108477017 single base substitution T C intron_variant MALY-DE 6 108483371 108483378 deletion of <=200bp AAACAAAC - intron_variant MALY-DE 6 108485656 108485656 single base substitution T C intron_variant MALY-DE 6 108486369 108486369 single base substitution C T intron_variant MALY-DE 6 108487937 108487937 single base substitution G A upstream_gene_variant MALY-DE 6 108487969 108487969 single base substitution C T upstream_gene_variant MELA-AU 6 108359311 108359311 single base substitution A G downstream_gene_variant MELA-AU 6 108359941 108359941 single base substitution A C downstream_gene_variant MELA-AU 6 108360051 108360051 single base substitution A T downstream_gene_variant MELA-AU 6 108360536 108360536 single base substitution G A downstream_gene_variant MELA-AU 6 108361071 108361071 single base substitution G A downstream_gene_variant MELA-AU 6 108361306 108361306 single base substitution G A downstream_gene_variant MELA-AU 6 108361339 108361339 single base substitution C T downstream_gene_variant MELA-AU 6 108361500 108361500 single base substitution G A downstream_gene_variant MELA-AU 6 108361908 108361908 single base substitution A G downstream_gene_variant MELA-AU 6 108362644 108362644 single base substitution G A 3_prime_UTR_variant MELA-AU 6 108362644 108362644 single base substitution G A downstream_gene_variant MELA-AU 6 108363588 108363588 insertion of <=200bp - AAATT 3_prime_UTR_variant MELA-AU 6 108363588 108363588 insertion of <=200bp - AAATT downstream_gene_variant MELA-AU 6 108363588 108363588 insertion of <=200bp - AAATT intron_variant MELA-AU 6 108364769 108364769 single base substitution A G 3_prime_UTR_variant MELA-AU 6 108364769 108364769 single base substitution A G downstream_gene_variant MELA-AU 6 108364769 108364769 single base substitution A G exon_variant MELA-AU 6 108365222 108365222 single base substitution A G 3_prime_UTR_variant MELA-AU 6 108365222 108365222 single base substitution A G downstream_gene_variant MELA-AU 6 108365222 108365222 single base substitution A G exon_variant MELA-AU 6 108365843 108365843 single base substitution G A 3_prime_UTR_variant MELA-AU 6 108365843 108365843 single base substitution G A downstream_gene_variant MELA-AU 6 108365843 108365843 single base substitution G A exon_variant MELA-AU 6 108365843 108365843 single base substitution G A upstream_gene_variant MELA-AU 6 108366973 108366973 single base substitution G A intron_variant MELA-AU 6 108366973 108366973 single base substitution G A upstream_gene_variant MELA-AU 6 108367932 108367932 single base substitution G A intron_variant MELA-AU 6 108367932 108367932 single base substitution G A upstream_gene_variant MELA-AU 6 108369111 108369111 single base substitution A T intron_variant MELA-AU 6 108369111 108369111 single base substitution A T upstream_gene_variant MELA-AU 6 108369650 108369650 single base substitution G A intron_variant MELA-AU 6 108369650 108369650 single base substitution G A upstream_gene_variant MELA-AU 6 108369870 108369870 single base substitution G C intron_variant MELA-AU 6 108369870 108369870 single base substitution G C upstream_gene_variant MELA-AU 6 108370171 108370171 single base substitution G A intron_variant MELA-AU 6 108370171 108370171 single base substitution G A upstream_gene_variant MELA-AU 6 108371567 108371567 single base substitution T A intron_variant MELA-AU 6 108371567 108371567 single base substitution T A upstream_gene_variant MELA-AU 6 108371993 108371993 single base substitution C T intron_variant MELA-AU 6 108371993 108371993 single base substitution C T upstream_gene_variant MELA-AU 6 108373371 108373371 single base substitution G A intron_variant MELA-AU 6 108373371 108373371 single base substitution G A upstream_gene_variant MELA-AU 6 108373630 108373630 single base substitution C T intron_variant MELA-AU 6 108373630 108373630 single base substitution C T upstream_gene_variant MELA-AU 6 108373919 108373919 single base substitution G A intron_variant MELA-AU 6 108373919 108373919 single base substitution G A upstream_gene_variant MELA-AU 6 108374454 108374454 single base substitution T C intron_variant MELA-AU 6 108374454 108374454 single base substitution T C upstream_gene_variant MELA-AU 6 108374940 108374940 single base substitution G A intron_variant MELA-AU 6 108374940 108374940 single base substitution G A upstream_gene_variant MELA-AU 6 108375019 108375019 single base substitution A G intron_variant MELA-AU 6 108375019 108375019 single base substitution A G upstream_gene_variant MELA-AU 6 108375115 108375115 single base substitution A C intron_variant MELA-AU 6 108375115 108375115 single base substitution A C upstream_gene_variant MELA-AU 6 108375209 108375209 single base substitution T C intron_variant MELA-AU 6 108375209 108375209 single base substitution T C upstream_gene_variant MELA-AU 6 108376074 108376074 single base substitution G A intron_variant MELA-AU 6 108376074 108376074 single base substitution G A upstream_gene_variant MELA-AU 6 108378130 108378135 deletion of <=200bp AAGTTA - intron_variant MELA-AU 6 108378320 108378320 single base substitution G C intron_variant MELA-AU 6 108378732 108378732 single base substitution G A intron_variant MELA-AU 6 108378906 108378906 single base substitution T G intron_variant MELA-AU 6 108379875 108379875 single base substitution A G intron_variant MELA-AU 6 108381706 108381706 single base substitution G A downstream_gene_variant MELA-AU 6 108381706 108381706 single base substitution G A intron_variant MELA-AU 6 108381753 108381753 single base substitution C T downstream_gene_variant MELA-AU 6 108381753 108381753 single base substitution C T intron_variant MELA-AU 6 108382062 108382062 single base substitution A C downstream_gene_variant MELA-AU 6 108382062 108382062 single base substitution A C intron_variant MELA-AU 6 108384791 108384791 deletion of <=200bp T - downstream_gene_variant MELA-AU 6 108384791 108384791 deletion of <=200bp T - intron_variant MELA-AU 6 108385404 108385404 single base substitution C T exon_variant MELA-AU 6 108385404 108385404 single base substitution C T missense_variant E168K 502G>A MELA-AU 6 108385404 108385404 single base substitution C T missense_variant E21K 61G>A MELA-AU 6 108387260 108387260 single base substitution G A intron_variant MELA-AU 6 108387530 108387530 single base substitution C T intron_variant MELA-AU 6 108387725 108387725 single base substitution G A intron_variant MELA-AU 6 108387741 108387741 single base substitution G C intron_variant MELA-AU 6 108387871 108387871 single base substitution G A intron_variant MELA-AU 6 108387967 108387967 single base substitution G A intron_variant MELA-AU 6 108388457 108388457 single base substitution A G intron_variant MELA-AU 6 108390770 108390770 single base substitution A T intron_variant MELA-AU 6 108390858 108390858 single base substitution C A intron_variant MELA-AU 6 108391827 108391827 single base substitution C T intron_variant MELA-AU 6 108392427 108392427 single base substitution C A intron_variant MELA-AU 6 108393506 108393506 single base substitution G A intron_variant MELA-AU 6 108393662 108393662 single base substitution A C intron_variant MELA-AU 6 108394204 108394204 single base substitution G A intron_variant MELA-AU 6 108394776 108394776 single base substitution C A intron_variant MELA-AU 6 108396018 108396018 single base substitution G A intron_variant MELA-AU 6 108396018 108396018 single base substitution G A upstream_gene_variant MELA-AU 6 108396046 108396046 single base substitution C T intron_variant MELA-AU 6 108396046 108396046 single base substitution C T upstream_gene_variant MELA-AU 6 108397255 108397256 multiple base substitution (>=2bp and <=200bp) GG TT intron_variant MELA-AU 6 108397255 108397256 multiple base substitution (>=2bp and <=200bp) GG TT upstream_gene_variant MELA-AU 6 108397370 108397370 single base substitution A G intron_variant MELA-AU 6 108397370 108397370 single base substitution A G upstream_gene_variant MELA-AU 6 108397528 108397528 single base substitution T G intron_variant MELA-AU 6 108397528 108397528 single base substitution T G upstream_gene_variant MELA-AU 6 108397559 108397559 single base substitution C T intron_variant MELA-AU 6 108397559 108397559 single base substitution C T upstream_gene_variant MELA-AU 6 108398704 108398704 single base substitution C T intron_variant MELA-AU 6 108398704 108398704 single base substitution C T upstream_gene_variant MELA-AU 6 108399475 108399475 single base substitution G A intron_variant MELA-AU 6 108399475 108399475 single base substitution G A upstream_gene_variant MELA-AU 6 108400775 108400775 single base substitution C T intron_variant MELA-AU 6 108400775 108400775 single base substitution C T upstream_gene_variant MELA-AU 6 108401843 108401843 single base substitution A C intron_variant MELA-AU 6 108403788 108403788 single base substitution C T intron_variant MELA-AU 6 108404504 108404504 single base substitution C T intron_variant MELA-AU 6 108404878 108404878 single base substitution C T intron_variant MELA-AU 6 108405066 108405066 single base substitution G A intron_variant MELA-AU 6 108405103 108405103 single base substitution G A intron_variant MELA-AU 6 108405121 108405121 single base substitution A G intron_variant MELA-AU 6 108405285 108405285 single base substitution A C intron_variant MELA-AU 6 108405452 108405452 single base substitution G A intron_variant MELA-AU 6 108405807 108405807 single base substitution G A intron_variant MELA-AU 6 108405886 108405886 single base substitution C T intron_variant MELA-AU 6 108406204 108406204 single base substitution T C intron_variant MELA-AU 6 108407079 108407079 single base substitution G A intron_variant MELA-AU 6 108407096 108407096 single base substitution C A intron_variant MELA-AU 6 108407838 108407838 single base substitution G A intron_variant MELA-AU 6 108408499 108408499 single base substitution T C intron_variant MELA-AU 6 108408926 108408929 deletion of <=200bp ACAC - intron_variant MELA-AU 6 108409820 108409820 single base substitution C T intron_variant MELA-AU 6 108410448 108410448 single base substitution T A intron_variant MELA-AU 6 108411510 108411510 single base substitution G A intron_variant MELA-AU 6 108411806 108411806 single base substitution C T intron_variant MELA-AU 6 108411887 108411887 single base substitution G A intron_variant MELA-AU 6 108413467 108413467 single base substitution G A intron_variant MELA-AU 6 108415043 108415043 single base substitution C T intron_variant MELA-AU 6 108416179 108416179 single base substitution C T intron_variant MELA-AU 6 108416223 108416223 single base substitution A G intron_variant MELA-AU 6 108416711 108416711 single base substitution G A intron_variant MELA-AU 6 108417187 108417187 single base substitution A G intron_variant MELA-AU 6 108417198 108417198 single base substitution G A intron_variant MELA-AU 6 108417623 108417623 single base substitution G A intron_variant MELA-AU 6 108417771 108417771 single base substitution G A intron_variant MELA-AU 6 108417811 108417812 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 108418355 108418355 single base substitution G A intron_variant MELA-AU 6 108418864 108418864 single base substitution G A intron_variant MELA-AU 6 108419513 108419513 single base substitution G A intron_variant MELA-AU 6 108419721 108419721 single base substitution G A intron_variant MELA-AU 6 108419770 108419770 single base substitution C T intron_variant MELA-AU 6 108419859 108419859 single base substitution G A intron_variant MELA-AU 6 108419877 108419877 single base substitution G A intron_variant MELA-AU 6 108420384 108420384 single base substitution A G intron_variant MELA-AU 6 108420530 108420530 single base substitution C T intron_variant MELA-AU 6 108421034 108421034 single base substitution C T intron_variant MELA-AU 6 108421122 108421122 single base substitution C T intron_variant MELA-AU 6 108421496 108421497 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 108421536 108421536 single base substitution G A intron_variant MELA-AU 6 108421721 108421721 single base substitution C T intron_variant MELA-AU 6 108423067 108423067 single base substitution T A intron_variant MELA-AU 6 108424501 108424501 single base substitution C T intron_variant MELA-AU 6 108425763 108425763 single base substitution C T intron_variant MELA-AU 6 108427533 108427533 single base substitution G A intron_variant MELA-AU 6 108427620 108427620 single base substitution G A intron_variant MELA-AU 6 108427635 108427635 single base substitution G A intron_variant MELA-AU 6 108427748 108427748 single base substitution G A intron_variant MELA-AU 6 108428758 108428758 single base substitution A T intron_variant MELA-AU 6 108429133 108429133 single base substitution G A intron_variant MELA-AU 6 108429827 108429827 single base substitution A C intron_variant MELA-AU 6 108430459 108430460 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 108430792 108430792 single base substitution C T intron_variant MELA-AU 6 108431058 108431058 single base substitution C T intron_variant MELA-AU 6 108431741 108431741 single base substitution G A intron_variant MELA-AU 6 108432077 108432077 single base substitution G A intron_variant MELA-AU 6 108432691 108432691 single base substitution G A intron_variant MELA-AU 6 108432726 108432726 single base substitution C T intron_variant MELA-AU 6 108433052 108433052 single base substitution G A intron_variant MELA-AU 6 108433118 108433118 single base substitution G A intron_variant MELA-AU 6 108433947 108433947 single base substitution G A intron_variant MELA-AU 6 108434353 108434353 single base substitution T C intron_variant MELA-AU 6 108434634 108434634 single base substitution C T intron_variant MELA-AU 6 108435804 108435804 single base substitution G A intron_variant MELA-AU 6 108436475 108436475 single base substitution G A intron_variant MELA-AU 6 108436803 108436803 single base substitution G A intron_variant MELA-AU 6 108436879 108436879 single base substitution T A intron_variant MELA-AU 6 108437052 108437052 single base substitution G A intron_variant MELA-AU 6 108437238 108437238 single base substitution C T intron_variant MELA-AU 6 108437455 108437455 single base substitution C T intron_variant MELA-AU 6 108437616 108437616 single base substitution C T intron_variant MELA-AU 6 108437755 108437755 single base substitution G A intron_variant MELA-AU 6 108438166 108438166 single base substitution G A intron_variant MELA-AU 6 108438171 108438171 single base substitution T A intron_variant MELA-AU 6 108438207 108438207 single base substitution C T intron_variant MELA-AU 6 108438354 108438354 single base substitution C T intron_variant MELA-AU 6 108440497 108440497 single base substitution C T downstream_gene_variant MELA-AU 6 108440497 108440497 single base substitution C T intron_variant MELA-AU 6 108441211 108441211 single base substitution C T downstream_gene_variant MELA-AU 6 108441211 108441211 single base substitution C T intron_variant MELA-AU 6 108441964 108441964 single base substitution C T downstream_gene_variant MELA-AU 6 108441964 108441964 single base substitution C T intron_variant MELA-AU 6 108442125 108442125 single base substitution C T downstream_gene_variant MELA-AU 6 108442125 108442125 single base substitution C T intron_variant MELA-AU 6 108442134 108442134 single base substitution C A downstream_gene_variant MELA-AU 6 108442134 108442134 single base substitution C A intron_variant MELA-AU 6 108442382 108442382 single base substitution C T downstream_gene_variant MELA-AU 6 108442382 108442382 single base substitution C T intron_variant MELA-AU 6 108442850 108442850 single base substitution C T downstream_gene_variant MELA-AU 6 108442850 108442850 single base substitution C T intron_variant MELA-AU 6 108443142 108443142 single base substitution G A downstream_gene_variant MELA-AU 6 108443142 108443142 single base substitution G A intron_variant MELA-AU 6 108443176 108443176 single base substitution G A downstream_gene_variant MELA-AU 6 108443176 108443176 single base substitution G A intron_variant MELA-AU 6 108443746 108443746 single base substitution A G exon_variant MELA-AU 6 108443746 108443746 single base substitution A G intron_variant MELA-AU 6 108444067 108444067 single base substitution A G intron_variant MELA-AU 6 108444069 108444069 single base substitution G A intron_variant MELA-AU 6 108444290 108444290 single base substitution C T intron_variant MELA-AU 6 108444372 108444373 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 108445321 108445321 single base substitution G A intron_variant MELA-AU 6 108445322 108445322 single base substitution G A intron_variant MELA-AU 6 108445732 108445732 single base substitution G A intron_variant MELA-AU 6 108445759 108445759 single base substitution G A intron_variant MELA-AU 6 108446037 108446037 single base substitution G C intron_variant MELA-AU 6 108446253 108446253 single base substitution G A intron_variant MELA-AU 6 108446964 108446964 single base substitution G A intron_variant MELA-AU 6 108447086 108447086 single base substitution G A intron_variant MELA-AU 6 108447646 108447646 single base substitution C T intron_variant MELA-AU 6 108447855 108447855 single base substitution G A intron_variant MELA-AU 6 108448047 108448047 single base substitution G A intron_variant MELA-AU 6 108448136 108448136 single base substitution C T intron_variant MELA-AU 6 108449156 108449156 single base substitution C A intron_variant MELA-AU 6 108449502 108449502 single base substitution G A intron_variant MELA-AU 6 108449559 108449559 single base substitution A G intron_variant MELA-AU 6 108449704 108449704 single base substitution G A intron_variant MELA-AU 6 108449735 108449735 single base substitution G A intron_variant MELA-AU 6 108449828 108449828 single base substitution T C intron_variant MELA-AU 6 108450279 108450279 single base substitution G A intron_variant MELA-AU 6 108450437 108450437 single base substitution G A intron_variant MELA-AU 6 108450600 108450600 single base substitution G A intron_variant MELA-AU 6 108450686 108450686 single base substitution C T intron_variant MELA-AU 6 108450917 108450918 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 108450975 108450975 single base substitution C T intron_variant MELA-AU 6 108451684 108451684 single base substitution G A intron_variant MELA-AU 6 108451982 108451982 single base substitution A G intron_variant MELA-AU 6 108452044 108452044 single base substitution C T intron_variant MELA-AU 6 108452210 108452210 single base substitution C T intron_variant MELA-AU 6 108452216 108452216 single base substitution C T intron_variant MELA-AU 6 108452382 108452382 single base substitution C T intron_variant MELA-AU 6 108453056 108453056 single base substitution G A intron_variant MELA-AU 6 108453176 108453176 single base substitution G A intron_variant MELA-AU 6 108453464 108453464 single base substitution G A intron_variant MELA-AU 6 108454868 108454868 single base substitution G A intron_variant MELA-AU 6 108454883 108454883 single base substitution G A intron_variant MELA-AU 6 108455119 108455119 single base substitution C T intron_variant MELA-AU 6 108455399 108455399 single base substitution C T intron_variant MELA-AU 6 108455578 108455578 single base substitution C G intron_variant MELA-AU 6 108455599 108455599 single base substitution C T intron_variant MELA-AU 6 108455930 108455930 single base substitution G A intron_variant MELA-AU 6 108456039 108456039 single base substitution G A intron_variant MELA-AU 6 108456389 108456389 single base substitution G A intron_variant MELA-AU 6 108456946 108456946 single base substitution A C intron_variant MELA-AU 6 108457223 108457223 single base substitution C T intron_variant MELA-AU 6 108457558 108457558 single base substitution A T intron_variant MELA-AU 6 108457690 108457690 single base substitution G A intron_variant MELA-AU 6 108457928 108457928 single base substitution G A intron_variant MELA-AU 6 108458094 108458094 single base substitution G A intron_variant MELA-AU 6 108458322 108458322 single base substitution C T intron_variant MELA-AU 6 108458343 108458343 single base substitution T C intron_variant MELA-AU 6 108458979 108458979 single base substitution C T intron_variant MELA-AU 6 108458984 108458984 single base substitution C T intron_variant MELA-AU 6 108459239 108459239 single base substitution T C intron_variant MELA-AU 6 108459246 108459246 single base substitution G A intron_variant MELA-AU 6 108459253 108459253 single base substitution T C intron_variant MELA-AU 6 108459393 108459393 single base substitution C T intron_variant MELA-AU 6 108459411 108459411 single base substitution C T intron_variant MELA-AU 6 108459432 108459432 single base substitution C T intron_variant MELA-AU 6 108459679 108459679 single base substitution C T intron_variant MELA-AU 6 108459975 108459975 single base substitution C T intron_variant MELA-AU 6 108460048 108460048 single base substitution G A intron_variant MELA-AU 6 108460075 108460075 single base substitution G A intron_variant MELA-AU 6 108461347 108461347 single base substitution A G intron_variant MELA-AU 6 108461679 108461679 single base substitution G A intron_variant MELA-AU 6 108461855 108461855 single base substitution C T intron_variant MELA-AU 6 108461875 108461875 single base substitution A G intron_variant MELA-AU 6 108462436 108462437 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 108462560 108462560 single base substitution G A intron_variant MELA-AU 6 108462601 108462601 single base substitution G A intron_variant MELA-AU 6 108462905 108462905 single base substitution G A intron_variant MELA-AU 6 108463697 108463697 single base substitution G A intron_variant MELA-AU 6 108463712 108463712 single base substitution C T intron_variant MELA-AU 6 108463962 108463962 single base substitution T A intron_variant MELA-AU 6 108464048 108464048 single base substitution C T intron_variant MELA-AU 6 108464680 108464680 single base substitution G A intron_variant MELA-AU 6 108464779 108464779 single base substitution C T intron_variant MELA-AU 6 108465253 108465253 single base substitution T C intron_variant MELA-AU 6 108465286 108465286 single base substitution G A intron_variant MELA-AU 6 108465327 108465327 single base substitution G A intron_variant MELA-AU 6 108465444 108465444 single base substitution G A intron_variant MELA-AU 6 108465731 108465731 single base substitution G A intron_variant MELA-AU 6 108465817 108465817 single base substitution G A intron_variant MELA-AU 6 108465818 108465818 single base substitution G A intron_variant MELA-AU 6 108465909 108465909 single base substitution G A intron_variant MELA-AU 6 108466039 108466039 single base substitution G A intron_variant MELA-AU 6 108466155 108466155 single base substitution G A intron_variant MELA-AU 6 108466581 108466581 single base substitution C T intron_variant MELA-AU 6 108466783 108466783 single base substitution G A intron_variant MELA-AU 6 108467314 108467314 single base substitution T A intron_variant MELA-AU 6 108467808 108467808 single base substitution C T intron_variant MELA-AU 6 108467898 108467898 single base substitution C T intron_variant MELA-AU 6 108467924 108467924 single base substitution A G intron_variant MELA-AU 6 108468364 108468365 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 108469057 108469057 single base substitution C T intron_variant MELA-AU 6 108469135 108469135 single base substitution C T intron_variant MELA-AU 6 108469209 108469209 single base substitution G A intron_variant MELA-AU 6 108469224 108469224 single base substitution C T intron_variant MELA-AU 6 108469225 108469225 single base substitution C T intron_variant MELA-AU 6 108469339 108469339 single base substitution C T intron_variant MELA-AU 6 108469522 108469522 single base substitution C T intron_variant MELA-AU 6 108469770 108469770 single base substitution G A intron_variant MELA-AU 6 108469875 108469875 single base substitution G A intron_variant MELA-AU 6 108469956 108469956 single base substitution C T intron_variant MELA-AU 6 108470231 108470231 single base substitution G A intron_variant MELA-AU 6 108470258 108470258 single base substitution G A intron_variant MELA-AU 6 108470297 108470297 single base substitution G A intron_variant MELA-AU 6 108470528 108470528 single base substitution C T intron_variant MELA-AU 6 108470681 108470681 single base substitution G A intron_variant MELA-AU 6 108470734 108470734 single base substitution G A intron_variant MELA-AU 6 108470765 108470766 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 108471030 108471030 single base substitution C T intron_variant MELA-AU 6 108471553 108471553 single base substitution T C intron_variant MELA-AU 6 108472197 108472197 single base substitution A G intron_variant MELA-AU 6 108472322 108472322 single base substitution G A intron_variant MELA-AU 6 108472566 108472566 single base substitution G T intron_variant MELA-AU 6 108472785 108472785 single base substitution C T intron_variant MELA-AU 6 108472895 108472895 single base substitution C T intron_variant MELA-AU 6 108473022 108473022 single base substitution G A intron_variant MELA-AU 6 108473023 108473023 single base substitution G A intron_variant MELA-AU 6 108473344 108473344 single base substitution T C intron_variant MELA-AU 6 108473452 108473452 single base substitution G A intron_variant MELA-AU 6 108473654 108473654 single base substitution G A intron_variant MELA-AU 6 108473810 108473810 single base substitution G A intron_variant MELA-AU 6 108474145 108474145 single base substitution C T intron_variant MELA-AU 6 108475419 108475419 single base substitution G A intron_variant MELA-AU 6 108475822 108475822 single base substitution G A intron_variant MELA-AU 6 108476080 108476080 single base substitution G A intron_variant MELA-AU 6 108476262 108476262 single base substitution C T intron_variant MELA-AU 6 108476303 108476303 single base substitution G A intron_variant MELA-AU 6 108476332 108476332 single base substitution A T intron_variant MELA-AU 6 108476435 108476435 single base substitution G A intron_variant MELA-AU 6 108476758 108476758 single base substitution G A intron_variant MELA-AU 6 108477353 108477353 single base substitution G A intron_variant MELA-AU 6 108477511 108477511 single base substitution C T intron_variant MELA-AU 6 108477719 108477719 single base substitution C T intron_variant MELA-AU 6 108477966 108477966 single base substitution G A intron_variant MELA-AU 6 108478031 108478031 single base substitution G A intron_variant MELA-AU 6 108478599 108478599 single base substitution G A intron_variant MELA-AU 6 108478726 108478726 single base substitution G C intron_variant MELA-AU 6 108478811 108478811 single base substitution G A intron_variant MELA-AU 6 108479264 108479264 single base substitution C T intron_variant MELA-AU 6 108480017 108480017 single base substitution C T intron_variant MELA-AU 6 108480026 108480026 single base substitution C T intron_variant MELA-AU 6 108480245 108480245 single base substitution G A intron_variant MELA-AU 6 108480397 108480397 single base substitution C T intron_variant MELA-AU 6 108480698 108480698 single base substitution G A intron_variant MELA-AU 6 108480928 108480928 single base substitution G A intron_variant MELA-AU 6 108481270 108481271 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 108481375 108481375 single base substitution C T intron_variant MELA-AU 6 108481544 108481544 single base substitution C T intron_variant MELA-AU 6 108481700 108481700 single base substitution G A intron_variant MELA-AU 6 108481706 108481706 single base substitution G A intron_variant MELA-AU 6 108482042 108482042 single base substitution C T intron_variant MELA-AU 6 108482242 108482242 single base substitution G A intron_variant MELA-AU 6 108482811 108482811 single base substitution G A intron_variant MELA-AU 6 108482848 108482848 single base substitution G A intron_variant MELA-AU 6 108483659 108483659 single base substitution G A intron_variant MELA-AU 6 108483977 108483977 single base substitution C T intron_variant MELA-AU 6 108484278 108484278 single base substitution C T intron_variant MELA-AU 6 108485135 108485136 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 108485263 108485263 single base substitution G A intron_variant MELA-AU 6 108486365 108486365 single base substitution G A intron_variant MELA-AU 6 108486548 108486548 single base substitution G A intron_variant MELA-AU 6 108486788 108486788 single base substitution T C 5_prime_UTR_variant MELA-AU 6 108486788 108486788 single base substitution T C exon_variant MELA-AU 6 108486941 108486941 single base substitution C T intron_variant MELA-AU 6 108487148 108487149 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 108487265 108487265 single base substitution G A upstream_gene_variant MELA-AU 6 108487280 108487280 single base substitution C T upstream_gene_variant MELA-AU 6 108488176 108488176 single base substitution G A upstream_gene_variant MELA-AU 6 108488296 108488297 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 108488495 108488495 single base substitution C T upstream_gene_variant MELA-AU 6 108488503 108488503 single base substitution C T upstream_gene_variant MELA-AU 6 108488653 108488653 single base substitution C T upstream_gene_variant MELA-AU 6 108488800 108488800 single base substitution C T upstream_gene_variant MELA-AU 6 108489004 108489004 single base substitution C T upstream_gene_variant MELA-AU 6 108489218 108489218 single base substitution A T upstream_gene_variant MELA-AU 6 108489479 108489479 single base substitution C T upstream_gene_variant MELA-AU 6 108489557 108489557 single base substitution G A upstream_gene_variant MELA-AU 6 108489626 108489626 single base substitution G A upstream_gene_variant MELA-AU 6 108489628 108489628 single base substitution G A upstream_gene_variant MELA-AU 6 108489693 108489693 single base substitution C T upstream_gene_variant MELA-AU 6 108490140 108490140 single base substitution C T upstream_gene_variant MELA-AU 6 108490219 108490219 single base substitution G A upstream_gene_variant MELA-AU 6 108490220 108490220 single base substitution G A upstream_gene_variant MELA-AU 6 108490400 108490400 single base substitution C T upstream_gene_variant MELA-AU 6 108490634 108490634 single base substitution G A upstream_gene_variant MELA-AU 6 108491758 108491758 single base substitution C T upstream_gene_variant MELA-AU 6 108491970 108491970 single base substitution C T upstream_gene_variant ORCA-IN 6 108427533 108427533 single base substitution G C intron_variant ORCA-IN 6 108430097 108430097 single base substitution T C intron_variant ORCA-IN 6 108436186 108436186 single base substitution C T intron_variant ORCA-IN 6 108448248 108448248 single base substitution A G intron_variant ORCA-IN 6 108450584 108450584 single base substitution C T intron_variant ORCA-IN 6 108467766 108467766 single base substitution G T intron_variant OV-AU 6 108358286 108358286 single base substitution C T downstream_gene_variant OV-AU 6 108363623 108363623 single base substitution T C 3_prime_UTR_variant OV-AU 6 108363623 108363623 single base substitution T C downstream_gene_variant OV-AU 6 108363623 108363623 single base substitution T C intron_variant OV-AU 6 108364216 108364216 single base substitution A G 3_prime_UTR_variant OV-AU 6 108364216 108364216 single base substitution A G downstream_gene_variant OV-AU 6 108364216 108364216 single base substitution A G exon_variant OV-AU 6 108369067 108369067 single base substitution A G intron_variant OV-AU 6 108369067 108369067 single base substitution A G upstream_gene_variant OV-AU 6 108371590 108371590 single base substitution C T intron_variant OV-AU 6 108371590 108371590 single base substitution C T upstream_gene_variant OV-AU 6 108374052 108374052 single base substitution G A intron_variant OV-AU 6 108374052 108374052 single base substitution G A upstream_gene_variant OV-AU 6 108374459 108374459 single base substitution C G intron_variant OV-AU 6 108374459 108374459 single base substitution C G upstream_gene_variant OV-AU 6 108380710 108380710 single base substitution T C downstream_gene_variant OV-AU 6 108380710 108380710 single base substitution T C intron_variant OV-AU 6 108382650 108382650 single base substitution A G downstream_gene_variant OV-AU 6 108382650 108382650 single base substitution A G intron_variant OV-AU 6 108385300 108385300 single base substitution C G downstream_gene_variant OV-AU 6 108385300 108385300 single base substitution C G intron_variant OV-AU 6 108387230 108387230 single base substitution G T intron_variant OV-AU 6 108391769 108391769 single base substitution A G intron_variant OV-AU 6 108394847 108394847 single base substitution G A intron_variant OV-AU 6 108394847 108394847 single base substitution G A splice_region_variant OV-AU 6 108398661 108398661 single base substitution C A intron_variant OV-AU 6 108398661 108398661 single base substitution C A upstream_gene_variant OV-AU 6 108402356 108402356 single base substitution G C intron_variant OV-AU 6 108407252 108407252 single base substitution A C intron_variant OV-AU 6 108408927 108408927 single base substitution C T intron_variant OV-AU 6 108411724 108411724 single base substitution C G intron_variant OV-AU 6 108412652 108412652 single base substitution G A intron_variant OV-AU 6 108413031 108413031 single base substitution C G intron_variant OV-AU 6 108416613 108416613 single base substitution C G intron_variant OV-AU 6 108419935 108419935 single base substitution C T intron_variant OV-AU 6 108424511 108424511 single base substitution C G intron_variant OV-AU 6 108426216 108426216 single base substitution T C intron_variant OV-AU 6 108427164 108427164 single base substitution G T intron_variant OV-AU 6 108444630 108444630 single base substitution C G intron_variant OV-AU 6 108445407 108445407 single base substitution G C intron_variant OV-AU 6 108451163 108451163 single base substitution A C intron_variant OV-AU 6 108457606 108457606 single base substitution A G intron_variant OV-AU 6 108457828 108457828 single base substitution G A intron_variant OV-AU 6 108466162 108466162 single base substitution T A intron_variant OV-AU 6 108469089 108469089 single base substitution G A intron_variant OV-AU 6 108471112 108471112 single base substitution C T intron_variant OV-AU 6 108473275 108473275 single base substitution C G intron_variant OV-AU 6 108480928 108480928 single base substitution G C intron_variant OV-AU 6 108484600 108484600 single base substitution A T intron_variant OV-AU 6 108488486 108488486 single base substitution T C upstream_gene_variant PACA-AU 6 108357798 108357798 single base substitution G A downstream_gene_variant PACA-AU 6 108360673 108360673 single base substitution A C downstream_gene_variant PACA-AU 6 108367815 108367815 single base substitution C T intron_variant PACA-AU 6 108367815 108367815 single base substitution C T upstream_gene_variant PACA-AU 6 108371192 108371193 deletion of <=200bp CA - intron_variant PACA-AU 6 108371192 108371193 deletion of <=200bp CA - upstream_gene_variant PACA-AU 6 108373743 108373743 single base substitution C T intron_variant PACA-AU 6 108373743 108373743 single base substitution C T upstream_gene_variant PACA-AU 6 108378837 108378837 single base substitution C A intron_variant PACA-AU 6 108383734 108383734 single base substitution C A downstream_gene_variant PACA-AU 6 108383734 108383734 single base substitution C A intron_variant PACA-AU 6 108383734 108383734 single base substitution C T downstream_gene_variant PACA-AU 6 108383734 108383734 single base substitution C T intron_variant PACA-AU 6 108388738 108388738 single base substitution G A intron_variant PACA-AU 6 108393182 108393182 single base substitution G T intron_variant PACA-AU 6 108395811 108395811 single base substitution C T exon_variant PACA-AU 6 108395811 108395811 single base substitution C T intron_variant PACA-AU 6 108395811 108395811 single base substitution C T synonymous_variant P15P 45G>A PACA-AU 6 108405184 108405184 single base substitution A G intron_variant PACA-AU 6 108409544 108409544 single base substitution T C intron_variant PACA-AU 6 108410375 108410375 single base substitution T A intron_variant PACA-AU 6 108413930 108413930 single base substitution C A intron_variant PACA-AU 6 108418697 108418697 single base substitution C A intron_variant PACA-AU 6 108418725 108418725 single base substitution A G intron_variant PACA-AU 6 108422366 108422366 single base substitution T C intron_variant PACA-AU 6 108428902 108428902 single base substitution G A intron_variant PACA-AU 6 108437583 108437583 single base substitution C A intron_variant PACA-AU 6 108441436 108441436 single base substitution C G downstream_gene_variant PACA-AU 6 108441436 108441436 single base substitution C G intron_variant PACA-AU 6 108442008 108442008 single base substitution A G downstream_gene_variant PACA-AU 6 108442008 108442008 single base substitution A G intron_variant PACA-AU 6 108456797 108456797 single base substitution T C intron_variant PACA-AU 6 108456860 108456860 single base substitution C A intron_variant PACA-AU 6 108457999 108457999 insertion of <=200bp - A intron_variant PACA-AU 6 108461309 108461313 deletion of <=200bp AAAAT - intron_variant PACA-AU 6 108469229 108469229 single base substitution C T intron_variant PACA-AU 6 108473365 108473365 single base substitution G C intron_variant PACA-AU 6 108473696 108473696 single base substitution T G intron_variant PACA-AU 6 108476566 108476566 single base substitution G A intron_variant PACA-AU 6 108487538 108487538 single base substitution G A upstream_gene_variant PACA-AU 6 108487811 108487811 single base substitution A C upstream_gene_variant PACA-AU 6 108490995 108490995 single base substitution G A upstream_gene_variant PACA-AU 6 108491300 108491300 single base substitution C T upstream_gene_variant PACA-AU 6 108491806 108491806 deletion of <=200bp T - upstream_gene_variant PACA-CA 6 108359183 108359183 single base substitution G C downstream_gene_variant PACA-CA 6 108359519 108359519 single base substitution G A downstream_gene_variant PACA-CA 6 108359657 108359658 deletion of <=200bp CG - downstream_gene_variant PACA-CA 6 108361505 108361505 single base substitution C T downstream_gene_variant PACA-CA 6 108364216 108364216 single base substitution A G 3_prime_UTR_variant PACA-CA 6 108364216 108364216 single base substitution A G downstream_gene_variant PACA-CA 6 108364216 108364216 single base substitution A G exon_variant PACA-CA 6 108364968 108364968 single base substitution T C 3_prime_UTR_variant PACA-CA 6 108364968 108364968 single base substitution T C downstream_gene_variant PACA-CA 6 108364968 108364968 single base substitution T C exon_variant PACA-CA 6 108368723 108368723 single base substitution T C intron_variant PACA-CA 6 108368723 108368723 single base substitution T C upstream_gene_variant PACA-CA 6 108371386 108371386 single base substitution T A intron_variant PACA-CA 6 108371386 108371386 single base substitution T A upstream_gene_variant PACA-CA 6 108377836 108377836 single base substitution A G intron_variant PACA-CA 6 108380947 108380949 deletion of <=200bp AAT - downstream_gene_variant PACA-CA 6 108380947 108380949 deletion of <=200bp AAT - intron_variant PACA-CA 6 108381079 108381079 single base substitution T A downstream_gene_variant PACA-CA 6 108381079 108381079 single base substitution T A intron_variant PACA-CA 6 108382697 108382697 single base substitution A T downstream_gene_variant PACA-CA 6 108382697 108382697 single base substitution A T intron_variant PACA-CA 6 108384438 108384438 single base substitution G T downstream_gene_variant PACA-CA 6 108384438 108384438 single base substitution G T intron_variant PACA-CA 6 108384800 108384800 single base substitution A C downstream_gene_variant PACA-CA 6 108384800 108384800 single base substitution A C intron_variant PACA-CA 6 108396230 108396230 single base substitution C T intron_variant PACA-CA 6 108396230 108396230 single base substitution C T upstream_gene_variant PACA-CA 6 108402666 108402667 deletion of <=200bp TT - intron_variant PACA-CA 6 108403128 108403128 single base substitution C T intron_variant PACA-CA 6 108406697 108406697 single base substitution T C intron_variant PACA-CA 6 108409203 108409203 single base substitution G C intron_variant PACA-CA 6 108416116 108416116 single base substitution G A intron_variant PACA-CA 6 108417456 108417456 single base substitution A G intron_variant PACA-CA 6 108418016 108418016 single base substitution C T intron_variant PACA-CA 6 108428759 108428759 single base substitution T A intron_variant PACA-CA 6 108434886 108434886 single base substitution T A intron_variant PACA-CA 6 108435430 108435430 single base substitution C A intron_variant PACA-CA 6 108436841 108436841 single base substitution G A intron_variant PACA-CA 6 108438130 108438130 single base substitution C T intron_variant PACA-CA 6 108439754 108439754 single base substitution G C downstream_gene_variant PACA-CA 6 108439754 108439754 single base substitution G C intron_variant PACA-CA 6 108441052 108441052 single base substitution G A downstream_gene_variant PACA-CA 6 108441052 108441052 single base substitution G A intron_variant PACA-CA 6 108443929 108443929 single base substitution T A intron_variant PACA-CA 6 108444903 108444903 single base substitution C G intron_variant PACA-CA 6 108456889 108456889 single base substitution G A intron_variant PACA-CA 6 108456976 108456976 single base substitution G A intron_variant PACA-CA 6 108457828 108457828 single base substitution G A intron_variant PACA-CA 6 108458947 108458947 single base substitution C T intron_variant PACA-CA 6 108460670 108460670 single base substitution G C intron_variant PACA-CA 6 108463500 108463500 single base substitution T A intron_variant PACA-CA 6 108470059 108470059 single base substitution C T intron_variant PACA-CA 6 108470441 108470441 deletion of <=200bp T - intron_variant PACA-CA 6 108471032 108471032 single base substitution G A intron_variant PACA-CA 6 108471955 108471955 single base substitution A G intron_variant PACA-CA 6 108472157 108472157 single base substitution A G intron_variant PACA-CA 6 108472827 108472827 single base substitution C T intron_variant PACA-CA 6 108473916 108473916 insertion of <=200bp - T intron_variant PACA-CA 6 108474139 108474139 single base substitution G A intron_variant PACA-CA 6 108479228 108479228 insertion of <=200bp - C intron_variant PACA-CA 6 108479783 108479783 insertion of <=200bp - G intron_variant PACA-CA 6 108482884 108482884 single base substitution G C intron_variant PACA-CA 6 108486673 108486673 single base substitution C T intron_variant PACA-CA 6 108487771 108487771 single base substitution G A upstream_gene_variant PAEN-AU 6 108361093 108361093 single base substitution T C downstream_gene_variant PAEN-AU 6 108448437 108448437 single base substitution G A intron_variant PAEN-AU 6 108461309 108461309 insertion of <=200bp - AAAAT intron_variant PAEN-AU 6 108461309 108461313 deletion of <=200bp AAAAT - intron_variant PAEN-AU 6 108489632 108489632 single base substitution T G upstream_gene_variant PAEN-AU 6 108490205 108490205 single base substitution G C upstream_gene_variant PAEN-IT 6 108372787 108372787 single base substitution C A intron_variant PAEN-IT 6 108372787 108372787 single base substitution C A upstream_gene_variant PAEN-IT 6 108461347 108461347 single base substitution A G intron_variant PBCA-DE 6 108357864 108357864 single base substitution G T downstream_gene_variant PBCA-DE 6 108371968 108371968 single base substitution A C intron_variant PBCA-DE 6 108371968 108371968 single base substitution A C upstream_gene_variant PBCA-DE 6 108385220 108385220 single base substitution G A downstream_gene_variant PBCA-DE 6 108385220 108385220 single base substitution G A intron_variant PBCA-DE 6 108399121 108399121 single base substitution C T intron_variant PBCA-DE 6 108399121 108399121 single base substitution C T upstream_gene_variant PBCA-DE 6 108399273 108399273 single base substitution G T intron_variant PBCA-DE 6 108399273 108399273 single base substitution G T upstream_gene_variant PBCA-DE 6 108403084 108403084 single base substitution C T intron_variant PBCA-DE 6 108403918 108403918 single base substitution A G intron_variant PBCA-DE 6 108404001 108404001 single base substitution C G intron_variant PBCA-DE 6 108405672 108405672 single base substitution G C intron_variant PBCA-DE 6 108408926 108408927 deletion of <=200bp AC - intron_variant PBCA-DE 6 108409118 108409118 single base substitution C T intron_variant PBCA-DE 6 108409976 108409976 single base substitution G C intron_variant PBCA-DE 6 108410184 108410184 single base substitution C T intron_variant PBCA-DE 6 108411056 108411056 single base substitution A G intron_variant PBCA-DE 6 108411649 108411649 deletion of <=200bp T - intron_variant PBCA-DE 6 108413591 108413592 deletion of <=200bp GT - intron_variant PBCA-DE 6 108414957 108414957 single base substitution G A intron_variant PBCA-DE 6 108420855 108420855 single base substitution C A intron_variant PBCA-DE 6 108421871 108421871 single base substitution C T intron_variant PBCA-DE 6 108427713 108427713 single base substitution A T intron_variant PBCA-DE 6 108429016 108429016 single base substitution C T intron_variant PBCA-DE 6 108430098 108430099 deletion of <=200bp AC - intron_variant PBCA-DE 6 108432251 108432251 deletion of <=200bp A - intron_variant PBCA-DE 6 108438616 108438617 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 6 108438616 108438617 deletion of <=200bp TG - intron_variant PBCA-DE 6 108441427 108441427 insertion of <=200bp - GG downstream_gene_variant PBCA-DE 6 108441427 108441427 insertion of <=200bp - GG intron_variant PBCA-DE 6 108444983 108444984 deletion of <=200bp TG - intron_variant PBCA-DE 6 108456874 108456874 single base substitution A G intron_variant PBCA-DE 6 108462262 108462262 single base substitution T C intron_variant PBCA-DE 6 108462674 108462674 insertion of <=200bp - T intron_variant PBCA-DE 6 108469388 108469388 single base substitution C A intron_variant PBCA-DE 6 108478197 108478197 single base substitution A T intron_variant PBCA-DE 6 108478205 108478205 single base substitution G T intron_variant PBCA-DE 6 108478393 108478393 single base substitution G A intron_variant PBCA-DE 6 108489896 108489896 single base substitution G A upstream_gene_variant PBCA-DE 6 108491693 108491693 single base substitution C A upstream_gene_variant PRAD-CA 6 108377486 108377486 single base substitution A C intron_variant PRAD-CA 6 108390132 108390132 single base substitution C T intron_variant PRAD-CA 6 108403219 108403219 single base substitution A G intron_variant PRAD-CA 6 108413533 108413533 single base substitution A G intron_variant PRAD-CA 6 108414018 108414018 single base substitution C G intron_variant PRAD-CA 6 108435666 108435666 single base substitution C T intron_variant PRAD-CA 6 108437362 108437362 single base substitution A T intron_variant PRAD-CA 6 108439087 108439087 single base substitution C G downstream_gene_variant PRAD-CA 6 108439087 108439087 single base substitution C G intron_variant PRAD-CA 6 108444754 108444754 single base substitution G A intron_variant PRAD-CA 6 108467939 108467939 single base substitution T C intron_variant PRAD-CA 6 108472789 108472789 single base substitution G A intron_variant PRAD-CA 6 108479633 108479633 single base substitution A G intron_variant PRAD-CA 6 108484960 108484960 single base substitution C T intron_variant PRAD-CA 6 108485812 108485812 single base substitution C A intron_variant PRAD-UK 6 108362592 108362592 single base substitution A C downstream_gene_variant PRAD-UK 6 108364262 108364262 insertion of <=200bp - T 3_prime_UTR_variant PRAD-UK 6 108364262 108364262 insertion of <=200bp - T downstream_gene_variant PRAD-UK 6 108364262 108364262 insertion of <=200bp - T exon_variant PRAD-UK 6 108365274 108365274 single base substitution C G 3_prime_UTR_variant PRAD-UK 6 108365274 108365274 single base substitution C G downstream_gene_variant PRAD-UK 6 108365274 108365274 single base substitution C G exon_variant PRAD-UK 6 108392220 108392220 single base substitution G A intron_variant PRAD-UK 6 108393895 108393895 single base substitution C G intron_variant PRAD-UK 6 108433177 108433177 single base substitution A T intron_variant PRAD-UK 6 108437113 108437113 single base substitution C T intron_variant PRAD-UK 6 108441789 108441789 single base substitution G T downstream_gene_variant PRAD-UK 6 108441789 108441789 single base substitution G T intron_variant PRAD-UK 6 108448102 108448102 single base substitution T C intron_variant PRAD-UK 6 108453020 108453020 single base substitution G A intron_variant PRAD-UK 6 108469352 108469371 deletion of <=200bp AACAGAAACAAACAATACTT - intron_variant PRAD-UK 6 108469354 108469354 single base substitution C G intron_variant PRAD-UK 6 108470022 108470022 single base substitution A G intron_variant PRAD-UK 6 108472060 108472060 single base substitution C G intron_variant PRAD-UK 6 108488809 108488809 single base substitution C T upstream_gene_variant RECA-EU 6 108361848 108361848 single base substitution T G downstream_gene_variant RECA-EU 6 108366989 108366989 single base substitution C T intron_variant RECA-EU 6 108366989 108366989 single base substitution C T upstream_gene_variant RECA-EU 6 108387833 108387833 single base substitution G C intron_variant RECA-EU 6 108394975 108394975 single base substitution C A exon_variant RECA-EU 6 108394975 108394975 single base substitution C A intron_variant RECA-EU 6 108397574 108397574 single base substitution G C intron_variant RECA-EU 6 108397574 108397574 single base substitution G C upstream_gene_variant RECA-EU 6 108413669 108413669 single base substitution T A intron_variant RECA-EU 6 108415368 108415368 single base substitution C T intron_variant RECA-EU 6 108416795 108416795 single base substitution G A intron_variant RECA-EU 6 108418284 108418284 single base substitution A C intron_variant RECA-EU 6 108449798 108449798 single base substitution C A intron_variant RECA-EU 6 108467309 108467309 single base substitution G A intron_variant SKCA-BR 6 108357639 108357639 insertion of <=200bp - TAAAA downstream_gene_variant SKCA-BR 6 108357639 108357640 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 6 108357657 108357657 single base substitution G A downstream_gene_variant SKCA-BR 6 108357668 108357668 single base substitution C T downstream_gene_variant SKCA-BR 6 108359815 108359815 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 6 108360507 108360507 single base substitution C T downstream_gene_variant SKCA-BR 6 108366703 108366703 insertion of <=200bp - GA intron_variant SKCA-BR 6 108366703 108366703 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 6 108367725 108367725 insertion of <=200bp - AT intron_variant SKCA-BR 6 108367725 108367725 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 6 108378412 108378412 single base substitution G A intron_variant SKCA-BR 6 108386316 108386316 single base substitution G A intron_variant SKCA-BR 6 108387578 108387578 insertion of <=200bp - CTTCAT intron_variant SKCA-BR 6 108393858 108393858 insertion of <=200bp - GA intron_variant SKCA-BR 6 108395063 108395063 single base substitution G A intron_variant SKCA-BR 6 108402951 108402951 single base substitution C T intron_variant SKCA-BR 6 108402952 108402952 single base substitution C T intron_variant SKCA-BR 6 108403709 108403709 single base substitution G A intron_variant SKCA-BR 6 108405718 108405718 single base substitution C T intron_variant SKCA-BR 6 108405886 108405886 single base substitution C T intron_variant SKCA-BR 6 108408431 108408431 single base substitution G A intron_variant SKCA-BR 6 108412760 108412760 single base substitution T C intron_variant SKCA-BR 6 108414911 108414911 single base substitution C A intron_variant SKCA-BR 6 108417711 108417711 single base substitution C T intron_variant SKCA-BR 6 108418406 108418406 single base substitution C T intron_variant SKCA-BR 6 108418461 108418461 single base substitution G A intron_variant SKCA-BR 6 108418722 108418722 single base substitution G A intron_variant SKCA-BR 6 108420245 108420245 single base substitution C T intron_variant SKCA-BR 6 108421257 108421257 single base substitution G A intron_variant SKCA-BR 6 108423744 108423744 single base substitution G A intron_variant SKCA-BR 6 108424798 108424798 single base substitution G A intron_variant SKCA-BR 6 108425297 108425297 single base substitution A G intron_variant SKCA-BR 6 108425964 108425964 single base substitution C T intron_variant SKCA-BR 6 108430272 108430272 single base substitution T G intron_variant SKCA-BR 6 108430835 108430835 single base substitution T C intron_variant SKCA-BR 6 108431219 108431219 single base substitution T G intron_variant SKCA-BR 6 108432016 108432016 single base substitution G C intron_variant SKCA-BR 6 108439880 108439880 insertion of <=200bp - TTC downstream_gene_variant SKCA-BR 6 108439880 108439880 insertion of <=200bp - TTC intron_variant SKCA-BR 6 108440584 108440584 single base substitution T G downstream_gene_variant SKCA-BR 6 108440584 108440584 single base substitution T G intron_variant SKCA-BR 6 108441992 108441992 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 6 108441992 108441992 insertion of <=200bp - TA intron_variant SKCA-BR 6 108443377 108443377 single base substitution G A downstream_gene_variant SKCA-BR 6 108443377 108443377 single base substitution G A intron_variant SKCA-BR 6 108443571 108443571 single base substitution T A exon_variant SKCA-BR 6 108443571 108443571 single base substitution T A intron_variant SKCA-BR 6 108445170 108445170 single base substitution G A intron_variant SKCA-BR 6 108447945 108447945 single base substitution G A intron_variant SKCA-BR 6 108447956 108447957 deletion of <=200bp GA - intron_variant SKCA-BR 6 108449513 108449513 single base substitution G A intron_variant SKCA-BR 6 108449729 108449729 single base substitution G A intron_variant SKCA-BR 6 108449730 108449730 single base substitution G A intron_variant SKCA-BR 6 108456795 108456795 single base substitution T C intron_variant SKCA-BR 6 108456886 108456886 single base substitution C T intron_variant SKCA-BR 6 108457754 108457754 single base substitution C T intron_variant SKCA-BR 6 108459776 108459776 single base substitution C T intron_variant SKCA-BR 6 108460802 108460802 single base substitution C T intron_variant SKCA-BR 6 108461463 108461463 single base substitution G A intron_variant SKCA-BR 6 108465006 108465006 insertion of <=200bp - ATT intron_variant SKCA-BR 6 108467436 108467436 single base substitution C T intron_variant SKCA-BR 6 108468714 108468714 single base substitution A C intron_variant SKCA-BR 6 108468966 108468966 single base substitution C T intron_variant SKCA-BR 6 108469357 108469357 single base substitution A G intron_variant SKCA-BR 6 108469647 108469647 single base substitution C T intron_variant SKCA-BR 6 108470000 108470000 single base substitution G A intron_variant SKCA-BR 6 108471518 108471518 single base substitution C T intron_variant SKCA-BR 6 108471694 108471694 single base substitution G A intron_variant SKCA-BR 6 108472003 108472003 single base substitution G A intron_variant SKCA-BR 6 108475882 108475896 deletion of <=200bp CTAAAAATACAAAAA - intron_variant SKCA-BR 6 108476389 108476389 single base substitution C T intron_variant SKCA-BR 6 108478151 108478152 deletion of <=200bp CG - intron_variant SKCA-BR 6 108478156 108478156 single base substitution T C intron_variant SKCA-BR 6 108481717 108481717 single base substitution C T intron_variant SKCA-BR 6 108483794 108483794 single base substitution A C intron_variant SKCA-BR 6 108484524 108484524 single base substitution G T intron_variant SKCA-BR 6 108484640 108484640 single base substitution G A intron_variant SKCA-BR 6 108486886 108486886 single base substitution C T 5_prime_UTR_variant SKCA-BR 6 108486886 108486886 single base substitution C T exon_variant SKCA-BR 6 108489627 108489627 single base substitution A G upstream_gene_variant SKCA-BR 6 108489834 108489834 single base substitution C T upstream_gene_variant SKCA-BR 6 108490977 108490977 single base substitution G A upstream_gene_variant SKCM-US 6 108370531 108370531 single base substitution A C exon_variant SKCM-US 6 108370531 108370531 single base substitution A C missense_variant I145S 434T>G SKCM-US 6 108370531 108370531 single base substitution A C missense_variant I292S 875T>G SKCM-US 6 108395683 108395683 single base substitution A G exon_variant SKCM-US 6 108395683 108395683 single base substitution A G intron_variant SKCM-US 6 108395683 108395683 single base substitution A G missense_variant L58S 173T>C STAD-US 6 108366005 108366005 single base substitution T C downstream_gene_variant STAD-US 6 108366005 108366005 single base substitution T C exon_variant STAD-US 6 108366005 108366005 single base substitution T C missense_variant Q330R 989A>G STAD-US 6 108366005 108366005 single base substitution T C upstream_gene_variant STAD-US 6 108385478 108385478 single base substitution G A 5_prime_UTR_variant STAD-US 6 108385478 108385478 single base substitution G A exon_variant STAD-US 6 108385478 108385478 single base substitution G A missense_variant A143V 428C>T STAD-US 6 108395540 108395540 single base substitution C T exon_variant STAD-US 6 108395540 108395540 single base substitution C T intron_variant STAD-US 6 108395540 108395540 single base substitution C T missense_variant A106T 316G>A THCA-SA 6 108363936 108363936 single base substitution G A 3_prime_UTR_variant THCA-SA 6 108363936 108363936 single base substitution G A downstream_gene_variant THCA-SA 6 108363936 108363936 single base substitution G A exon_variant THCA-SA 6 108364106 108364106 single base substitution A G 3_prime_UTR_variant THCA-SA 6 108364106 108364106 single base substitution A G downstream_gene_variant THCA-SA 6 108364106 108364106 single base substitution A G exon_variant THCA-SA 6 108364637 108364637 single base substitution T C 3_prime_UTR_variant THCA-SA 6 108364637 108364637 single base substitution T C downstream_gene_variant THCA-SA 6 108364637 108364637 single base substitution T C exon_variant THCA-SA 6 108364655 108364655 single base substitution A G 3_prime_UTR_variant THCA-SA 6 108364655 108364655 single base substitution A G downstream_gene_variant THCA-SA 6 108364655 108364655 single base substitution A G exon_variant THCA-SA 6 108365658 108365658 single base substitution T C 3_prime_UTR_variant THCA-SA 6 108365658 108365658 single base substitution T C downstream_gene_variant THCA-SA 6 108365658 108365658 single base substitution T C exon_variant THCA-SA 6 108365658 108365658 single base substitution T C upstream_gene_variant THCA-SA 6 108395790 108395791 deletion of <=200bp CA - exon_variant THCA-SA 6 108395790 108395791 deletion of <=200bp CA - frameshift_variant L22 THCA-SA 6 108395790 108395791 deletion of <=200bp CA - intron_variant UCEC-US 6 108375736 108375736 single base substitution A G synonymous_variant N191N 573T>C UCEC-US 6 108375736 108375736 single base substitution A G synonymous_variant N44N 132T>C UCEC-US 6 108375736 108375736 single base substitution A G upstream_gene_variant UCEC-US 6 108385427 108385427 single base substitution T C exon_variant UCEC-US 6 108385427 108385427 single base substitution T C missense_variant E13G 38A>G UCEC-US 6 108385427 108385427 single base substitution T C missense_variant E160G 479A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand I2L-P19Ta-Tumor-Organoid COSM5357346 c.126C>A p.V42V Substitution - coding silent 6:108074526-108074526 - MD-212 COSM302840 c.797G>A p.R266Q Substitution - Missense 6:108049405-108049405 - TCGA-AD-6889-01 COSM1439589 c.721delA p.M241fs*1 Deletion - Frameshift 6:108051093-108051093 - 61 COSM5108230 c.647_648insA p.N216fs*11 Insertion - Frameshift 6:108051166-108051167 - 5 COSM40433 c.949C>T p.P317S Substitution - Missense 6:108049253-108049253 - TCGA-RC-A7SK-01 COSM4918507 c.731T>C p.L244P Substitution - Missense 6:108051083-108051083 - SJRHB059R COSM3738325 c.487A>C p.N163H Substitution - Missense 6:108064215-108064215 - PTC_221 COSM5960209 c.65_66delTG p.L22fs*61 Deletion - Frameshift 6:108074586-108074587 - CHC892T COSM4795877 c.299G>A p.G100E Substitution - Missense 6:108074353-108074353 - TCGA-DD-A3A9-01 COSM4920323 c.683A>T p.Y228F Substitution - Missense 6:108051131-108051131 - HCT-15 COSM1672660 c.25C>T p.Q9* Substitution - Nonsense 6:108074627-108074627 - SC_9093 COSM5558369 c.305T>A p.L102Q Substitution - Missense 6:108074347-108074347 - TCGA-D9-A6EC-06 COSM4404130 c.875T>G p.I292S Substitution - Missense 6:108049327-108049327 - 587226 COSM1071871 c.648T>A p.N216K Substitution - Missense 6:108051166-108051166 - EGC8 COSM5061318 c.498G>A p.W166* Substitution - Nonsense 6:108064204-108064204 - 2492729 COSM5727442 c.341C>T p.T114I Substitution - Missense 6:108074311-108074311 - TCGA-BR-7707-01 COSM3857320 c.989A>G p.Q330R Substitution - Missense 6:108044801-108044801 - HCT15 COSM1672660 c.25C>T p.Q9* Substitution - Nonsense 6:108074627-108074627 - HN_62741 COSM125083 c.274G>T p.A92S Substitution - Missense 6:108074378-108074378 - ESCC-123T COSM3941447 c.694A>G p.S232G Substitution - Missense 6:108051120-108051120 - PD11761a COSM5802024 c.348_349insTTACC p.P117fs*33 Insertion - Frameshift 6:108074303-108074304 - tumor_4128477 COSM5947455 c.688delA p.T230fs*2 Deletion - Frameshift 6:108051126-108051126 - TCGA-BK-A0C9-01 COSM1071871 c.648T>A p.N216K Substitution - Missense 6:108051166-108051166 - HCT15 COSM3154880 c.768T>C p.I256I Substitution - coding silent 6:108051046-108051046 - TCGA-BH-A0B6-01 COSM3828742 c.357C>T p.F119F Substitution - coding silent 6:108074295-108074295 - TCGA-D3-A51G-06 COSM3619302 c.173T>C p.L58S Substitution - Missense 6:108074479-108074479 - 2476_PT COSM5756719 c.641C>A p.T214K Substitution - Missense 6:108051173-108051173 - TCGA-CG-5721-01 COSM3857321 c.428C>T p.A143V Substitution - Missense 6:108064274-108064274 - HCC129T COSM5817079 c.412G>T p.E138* Substitution - Nonsense 6:108064290-108064290 - TCGA-BS-A0UV-01 COSM1071872 c.573T>C p.N191N Substitution - coding silent 6:108054532-108054532 - TCGA-AP-A051-01 COSM1071873 c.479A>G p.E160G Substitution - Missense 6:108064223-108064223 - 8052570 COSM3393754 c.45G>A p.P15P Substitution - coding silent 6:108074607-108074607 - TCGA-CM-6171-01 COSM1439588 c.721_722insA p.M241fs*3 Insertion - Frameshift 6:108051092-108051093 - HN_0-046 COSM121442 c.681A>T p.A227A Substitution - coding silent 6:108051133-108051133 - T3021 COSM4710482 c.680C>T p.A227V Substitution - Missense 6:108051134-108051134 - Br27P COSM40433 c.949C>T p.P317S Substitution - Missense 6:108049253-108049253 - TCGA-29-2429-01 COSM1329369 c.979G>T p.A327S Substitution - Missense 6:108044811-108044811 - T2269 COSM4710483 c.483T>G p.F161L Substitution - Missense 6:108064219-108064219 - ACA45 COSM5961710 c.427G>A p.A143T Substitution - Missense 6:108064275-108064275 - PD7211a COSM5775014 c.863T>G p.V288G Substitution - Missense 6:108049339-108049339 - TCGA-AA-3511-01 COSM1439587 c.920C>G p.S307* Substitution - Nonsense 6:108049282-108049282 - 587338 COSM1218969 c.275C>T p.A92V Substitution - Missense 6:108074377-108074377 - TCGA-18-3411-01 COSM739748 c.556A>T p.T186S Substitution - Missense 6:108054549-108054549 - TCGA-AZ-6598-01 COSM1439588 c.721_722insA p.M241fs*3 Insertion - Frameshift 6:108051092-108051093 - LUAD-F00162 COSM366624 c.616-1G>T p.? Unknown 6:108051199-108051199 - TCGA-22-4599-01 COSM739747 c.392G>T p.R131L Substitution - Missense 6:108074260-108074260 - TCGA-BR-6452-01 COSM3857322 c.316G>A p.A106T Substitution - Missense 6:108074336-108074336 - OV207 COSM253049 c.486delT p.F162fs*14 Deletion - Frameshift 6:108064216-108064216 - SA2 COSM1166355 c.198A>G p.G66G Substitution - coding silent 6:108074454-108074454 - LC_C27 COSM1187128 c.331C>T p.L111F Substitution - Missense 6:108074321-108074321 - KPOPBR-03-T COSM5964959 c.366C>G p.V122V Substitution - coding silent 6:108074286-108074286 - GHE0645 COSM5714688 c.358C>T p.Q120* Substitution - Nonsense 6:108074294-108074294 - CHC892T COSM4795877 c.299G>A p.G100E Substitution - Missense 6:108074353-108074353 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.226765;Hs.226780 6q21 607649 Hs.741218 6q21 607649

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.A92S c.274G>T 6 108395582 HNSC C A Missense p.R131L c.392G>T 6 108395464 LUSC C T Missense p.P317S c.949C>T 6 108370457 GBM G A Missense p.L301F c.901C>T 6 108370505 CM G A Missense p.P284S c.850C>T 6 108370556 HNSC G T Missense p.P15Q c.44C>A 6 108395812 HNSC T A Missense p.T186S c.556A>T 6 108375753 LUSC T A Synonymous p.A227A c.681A>T 6 108372337 HNSC T A Synonymous p.R131R c.393A>T 6 108395463 HNSC T C Missense p.N184S c.551A>G 6 108375758 STAD