Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 72428448 72428448 + Missense_Mutation SNP C C G TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr3:72428448C>G c.554G>C c.(553-555)gGa>gCa p.G185A BLCA 3 72428484 72428484 + Nonstop_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr3:72428484C>G c.518G>C c.(517-519)tGa>tCa p.*173S BRCA 3 72427764 72427764 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:72427764C>G c.724G>C c.(724-726)Gag>Cag p.E242Q BRCA 3 72427768 72427768 + Silent SNP T T C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:72427768T>C c.720A>G c.(718-720)ggA>ggG p.G240G COAD 3 72427621 72427621 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:72427621G>A c.867C>T c.(865-867)ctC>ctT p.L289L COAD 3 72427676 72427676 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:72427676A>G c.812T>C c.(811-813)aTc>aCc p.I271T COADREAD 3 72427621 72427621 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:72427621G>A c.867C>T c.(865-867)ctC>ctT p.L289L COADREAD 3 72427676 72427676 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:72427676A>G c.812T>C c.(811-813)aTc>aCc p.I271T GBM 3 72427619 72427619 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 g.chr3:72427619C>T c.869G>A c.(868-870)gGg>gAg p.G290E GBMLGG 3 72427619 72427619 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 g.chr3:72427619C>T c.869G>A c.(868-870)gGg>gAg p.G290E GBMLGG 3 72427764 72427764 + Missense_Mutation SNP C C G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr3:72427764C>G c.724G>C c.(724-726)Gag>Cag p.E242Q HNSC 3 72428456 72428456 + Missense_Mutation SNP T T G TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr3:72428456T>G c.546A>C c.(544-546)gaA>gaC p.E182D HNSC 3 72428484 72428484 + Nonstop_Mutation SNP C C G TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr3:72428484C>G c.518G>C c.(517-519)tGa>tCa p.*173S HNSC 3 72428559 72428559 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr3:72428559G>A c.443C>T c.(442-444)tCa>tTa p.S148L HNSC 3 72495696 72495696 + Nonstop_Mutation SNP C C A TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr3:72495696C>A c.374G>T c.(373-375)tGa>tTa p.*125L LGG 3 72427764 72427764 + Missense_Mutation SNP C C G TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr3:72427764C>G c.724G>C c.(724-726)Gag>Cag p.E242Q LIHC 3 72427650 72427650 + Missense_Mutation SNP T T A TCGA-DD-AADJ-01A-11D-A40R-10 TCGA-DD-AADJ-10A-01D-A40U-10 g.chr3:72427650T>A c.838A>T c.(838-840)Agg>Tgg p.R280W LUAD 3 72427727 72427727 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr3:72427727C>A c.761G>T c.(760-762)cGt>cTt p.R254L LUAD 3 72428487 72428487 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr3:72428487C>A c.515G>T c.(514-516)aGt>aTt p.S172I LUAD 3 72428503 72428504 + Frame_Shift_Ins INS - - T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr3:72428503_72428504insT c.498_499insA c.(496-501)aaaggafs p.G167fs LUAD 3 72495721 72495721 + Missense_Mutation SNP G G C TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 g.chr3:72495721G>C c.349C>G c.(349-351)Cgt>Ggt p.R117G LUSC 3 72427648 72427648 + Missense_Mutation SNP C C A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 g.chr3:72427648C>A c.840G>T c.(838-840)agG>agT p.R280S PAAD 3 72428210 72428210 + Missense_Mutation SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 g.chr3:72428210C>A c.680G>T c.(679-681)cGa>cTa p.R227L PRAD 3 72427735 72427735 + Missense_Mutation SNP A A C TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 g.chr3:72427735A>C c.753T>G c.(751-753)tgT>tgG p.C251W PRAD 3 72428400 72428400 + Splice_Site SNP A A T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 g.chr3:72428400A>T c.e2+1 PRAD 3 72428496 72428496 + Missense_Mutation SNP T T C TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 g.chr3:72428496T>C c.506A>G c.(505-507)gAa>gGa p.E169G PRAD 3 72428576 72428576 + Missense_Mutation SNP T T G TCGA-EJ-A6RC-01A-11D-A32B-08 TCGA-EJ-A6RC-10A-01D-A329-08 g.chr3:72428576T>G c.426A>C c.(424-426)aaA>aaC p.K142N PRAD 3 72495650 72495650 + Silent SNP G G A TCGA-HC-7740-01A-11D-2114-08 TCGA-HC-7740-10A-01D-2115-08 g.chr3:72495650G>A c.420C>T c.(418-420)caC>caT p.H140H SKCM 3 72427681 72427681 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr3:72427681G>A c.807C>T c.(805-807)atC>atT p.I269I SKCM 3 72495776 72495776 + Silent SNP C C A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr3:72495776C>A c.294G>T c.(292-294)cgG>cgT p.R98R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 72428484 72428484 single base substitution C G missense_variant E173Q 517G>C BOCA-FR 3 72457171 72457171 single base substitution G A intron_variant BRCA-EU 3 72416489 72416489 single base substitution G A downstream_gene_variant BRCA-EU 3 72418036 72418036 single base substitution C T downstream_gene_variant BRCA-EU 3 72419491 72419491 single base substitution A G downstream_gene_variant BRCA-EU 3 72423780 72423780 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 72423951 72423951 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 72424550 72424550 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 3 72426574 72426574 single base substitution A C 3_prime_UTR_variant BRCA-EU 3 72429935 72429935 single base substitution T C intron_variant BRCA-EU 3 72430063 72430063 single base substitution G C intron_variant BRCA-EU 3 72430447 72430447 deletion of <=200bp A - intron_variant BRCA-EU 3 72430453 72430453 single base substitution A G intron_variant BRCA-EU 3 72431279 72431279 single base substitution C T intron_variant BRCA-EU 3 72431470 72431470 single base substitution C T intron_variant BRCA-EU 3 72431936 72431936 single base substitution C T intron_variant BRCA-EU 3 72432759 72432759 single base substitution G C intron_variant BRCA-EU 3 72433813 72433813 single base substitution A T intron_variant BRCA-EU 3 72436929 72436929 insertion of <=200bp - A intron_variant BRCA-EU 3 72440432 72440432 single base substitution C A intron_variant BRCA-EU 3 72440661 72440661 single base substitution T C intron_variant BRCA-EU 3 72441099 72441099 single base substitution T C intron_variant BRCA-EU 3 72449949 72449949 deletion of <=200bp A - intron_variant BRCA-EU 3 72450267 72450267 single base substitution A C intron_variant BRCA-EU 3 72451082 72451082 single base substitution C A intron_variant BRCA-EU 3 72454497 72454497 single base substitution C G intron_variant BRCA-EU 3 72454887 72454887 single base substitution C T intron_variant BRCA-EU 3 72455449 72455449 single base substitution T G intron_variant BRCA-EU 3 72455804 72455804 single base substitution G C intron_variant BRCA-EU 3 72456189 72456189 single base substitution G A intron_variant BRCA-EU 3 72458154 72458154 single base substitution T C intron_variant BRCA-EU 3 72459419 72459419 single base substitution G A intron_variant BRCA-EU 3 72461273 72461273 single base substitution C G intron_variant BRCA-EU 3 72463605 72463605 single base substitution A T intron_variant BRCA-EU 3 72466102 72466102 single base substitution A C intron_variant BRCA-EU 3 72466335 72466335 single base substitution A G intron_variant BRCA-EU 3 72467942 72467942 single base substitution G A intron_variant BRCA-EU 3 72468730 72468730 single base substitution G T intron_variant BRCA-EU 3 72470667 72470667 single base substitution C A intron_variant BRCA-EU 3 72471283 72471283 single base substitution G T intron_variant BRCA-EU 3 72473947 72473947 single base substitution T A intron_variant BRCA-EU 3 72476142 72476142 insertion of <=200bp - G intron_variant BRCA-EU 3 72476223 72476223 single base substitution A T intron_variant BRCA-EU 3 72476332 72476332 single base substitution G C intron_variant BRCA-EU 3 72476617 72476617 single base substitution C A intron_variant BRCA-EU 3 72477394 72477394 single base substitution C G intron_variant BRCA-EU 3 72477603 72477603 single base substitution C G intron_variant BRCA-EU 3 72479610 72479610 insertion of <=200bp - A intron_variant BRCA-EU 3 72481967 72481967 single base substitution T A intron_variant BRCA-EU 3 72482988 72482988 single base substitution T A intron_variant BRCA-EU 3 72483397 72483397 single base substitution C A intron_variant BRCA-EU 3 72484493 72484493 single base substitution G A intron_variant BRCA-EU 3 72484886 72484886 single base substitution A T intron_variant BRCA-EU 3 72485864 72485864 single base substitution A G intron_variant BRCA-EU 3 72486769 72486769 single base substitution C A intron_variant BRCA-EU 3 72488287 72488287 single base substitution C A intron_variant BRCA-EU 3 72493017 72493017 insertion of <=200bp - T intron_variant BRCA-EU 3 72493645 72493651 deletion of <=200bp AACGATG - intron_variant BRCA-EU 3 72493678 72493678 single base substitution A C intron_variant BRCA-EU 3 72495634 72495634 single base substitution G C intron_variant BRCA-EU 3 72496646 72496646 single base substitution G A upstream_gene_variant BRCA-EU 3 72497115 72497115 single base substitution G A upstream_gene_variant BRCA-EU 3 72497560 72497560 single base substitution G A upstream_gene_variant BRCA-EU 3 72497979 72497979 single base substitution C T upstream_gene_variant BRCA-EU 3 72498228 72498228 single base substitution C T upstream_gene_variant BRCA-FR 3 72431279 72431279 single base substitution C T intron_variant BRCA-FR 3 72440661 72440661 single base substitution T C intron_variant BRCA-FR 3 72451082 72451082 single base substitution C A intron_variant BRCA-FR 3 72454887 72454887 single base substitution C T intron_variant BRCA-FR 3 72455449 72455449 single base substitution T G intron_variant BRCA-FR 3 72455804 72455804 single base substitution G C intron_variant BRCA-FR 3 72456189 72456189 single base substitution G A intron_variant BRCA-FR 3 72458154 72458154 single base substitution T C intron_variant BRCA-FR 3 72471283 72471283 single base substitution G T intron_variant BRCA-FR 3 72474364 72474364 single base substitution C T intron_variant BRCA-FR 3 72495770 72495770 single base substitution G A missense_variant P100L 299C>T BRCA-KR 3 72495611 72495611 single base substitution G A intron_variant BRCA-UK 3 72448670 72448670 single base substitution C G intron_variant BRCA-UK 3 72476223 72476223 single base substitution A T intron_variant BRCA-UK 3 72484886 72484886 single base substitution A T intron_variant BRCA-US 3 72427764 72427764 single base substitution C G missense_variant R241S 723G>C BRCA-US 3 72427768 72427768 single base substitution T C missense_variant D240G 719A>G CLLE-ES 3 72418475 72418475 single base substitution A C downstream_gene_variant CLLE-ES 3 72424373 72424373 single base substitution A G 3_prime_UTR_variant CLLE-ES 3 72436205 72436205 single base substitution C G intron_variant CLLE-ES 3 72438142 72438142 single base substitution A G intron_variant CLLE-ES 3 72439911 72439911 single base substitution G C intron_variant CLLE-ES 3 72450057 72450057 single base substitution T C intron_variant CLLE-ES 3 72465721 72465721 single base substitution A C intron_variant CLLE-ES 3 72480909 72480909 single base substitution T C intron_variant CLLE-ES 3 72482339 72482339 single base substitution T C intron_variant CLLE-ES 3 72486339 72486339 single base substitution T A intron_variant CLLE-ES 3 72495609 72495609 single base substitution A C intron_variant CLLE-ES 3 72495651 72495651 deletion of <=200bp T - frameshift_variant T140 CLLE-ES 3 72495684 72495684 single base substitution A T missense_variant C129S 385T>A COAD-US 3 72427621 72427621 single base substitution G A missense_variant S289L 866C>T EOPC-DE 3 72424607 72424607 single base substitution G A 3_prime_UTR_variant EOPC-DE 3 72495685 72495685 single base substitution T G missense_variant K128N 384A>C ESAD-UK 3 72416010 72416010 single base substitution G A downstream_gene_variant ESAD-UK 3 72417468 72417468 single base substitution C G downstream_gene_variant ESAD-UK 3 72417498 72417498 single base substitution A G downstream_gene_variant ESAD-UK 3 72418771 72418771 single base substitution A T downstream_gene_variant ESAD-UK 3 72420315 72420315 single base substitution G A downstream_gene_variant ESAD-UK 3 72420628 72420628 single base substitution C T downstream_gene_variant ESAD-UK 3 72420772 72420772 single base substitution G A downstream_gene_variant ESAD-UK 3 72420970 72420970 single base substitution T C downstream_gene_variant ESAD-UK 3 72424254 72424254 single base substitution A T 3_prime_UTR_variant ESAD-UK 3 72426634 72426634 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 72427359 72427359 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 72427495 72427495 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 72427727 72427727 single base substitution C T missense_variant V254I 760G>A ESAD-UK 3 72428331 72428331 single base substitution A C intron_variant ESAD-UK 3 72429560 72429560 single base substitution C T intron_variant ESAD-UK 3 72433685 72433685 single base substitution T G intron_variant ESAD-UK 3 72434805 72434805 single base substitution C T intron_variant ESAD-UK 3 72436942 72436942 insertion of <=200bp - A intron_variant ESAD-UK 3 72437796 72437796 single base substitution T C intron_variant ESAD-UK 3 72438347 72438347 single base substitution C A intron_variant ESAD-UK 3 72439053 72439053 single base substitution G A intron_variant ESAD-UK 3 72440800 72440800 single base substitution C G intron_variant ESAD-UK 3 72442009 72442009 single base substitution T C intron_variant ESAD-UK 3 72442377 72442377 deletion of <=200bp A - intron_variant ESAD-UK 3 72442416 72442416 single base substitution C G intron_variant ESAD-UK 3 72443168 72443168 single base substitution G A intron_variant ESAD-UK 3 72452000 72452000 single base substitution C T intron_variant ESAD-UK 3 72454154 72454154 single base substitution T A intron_variant ESAD-UK 3 72454156 72454156 single base substitution A T intron_variant ESAD-UK 3 72457028 72457028 single base substitution T G intron_variant ESAD-UK 3 72457662 72457662 single base substitution C A intron_variant ESAD-UK 3 72458063 72458063 single base substitution G A intron_variant ESAD-UK 3 72460487 72460487 single base substitution A T intron_variant ESAD-UK 3 72463606 72463606 insertion of <=200bp - T intron_variant ESAD-UK 3 72464038 72464038 single base substitution T C intron_variant ESAD-UK 3 72466943 72466943 single base substitution A C intron_variant ESAD-UK 3 72467677 72467677 single base substitution T G intron_variant ESAD-UK 3 72469020 72469020 single base substitution C T intron_variant ESAD-UK 3 72470533 72470533 single base substitution G A intron_variant ESAD-UK 3 72471117 72471117 single base substitution T C intron_variant ESAD-UK 3 72475016 72475016 single base substitution C G intron_variant ESAD-UK 3 72478065 72478065 single base substitution C T intron_variant ESAD-UK 3 72480473 72480474 deletion of <=200bp AA - intron_variant ESAD-UK 3 72481900 72481900 single base substitution C T intron_variant ESAD-UK 3 72483358 72483358 single base substitution G A intron_variant ESAD-UK 3 72484075 72484075 deletion of <=200bp T - intron_variant ESAD-UK 3 72486963 72486963 single base substitution C T intron_variant ESAD-UK 3 72489236 72489236 single base substitution T C intron_variant ESAD-UK 3 72490521 72490521 single base substitution G C intron_variant ESAD-UK 3 72494689 72494689 single base substitution G A intron_variant ESAD-UK 3 72495706 72495706 single base substitution T C synonymous_variant R121R 363A>G ESAD-UK 3 72497301 72497301 single base substitution A G upstream_gene_variant ESAD-UK 3 72498437 72498437 single base substitution C A upstream_gene_variant ESAD-UK 3 72500066 72500066 single base substitution G C upstream_gene_variant ESCA-CN 3 72427005 72427005 single base substitution G A 3_prime_UTR_variant GBM-US 3 72427619 72427619 single base substitution C T missense_variant G290R 868G>A LICA-FR 3 72416538 72416538 single base substitution A G downstream_gene_variant LICA-FR 3 72453464 72453464 single base substitution C T intron_variant LICA-FR 3 72467135 72467135 single base substitution T C intron_variant LICA-FR 3 72486856 72486856 single base substitution C T intron_variant LINC-JP 3 72428396 72428396 single base substitution A C splice_region_variant LINC-JP 3 72436196 72436196 single base substitution T C intron_variant LINC-JP 3 72445834 72445838 deletion of <=200bp GCGAC - intron_variant LINC-JP 3 72446164 72446164 single base substitution T C intron_variant LINC-JP 3 72450196 72450196 single base substitution A C intron_variant LINC-JP 3 72456052 72456052 single base substitution A C intron_variant LINC-JP 3 72457115 72457115 single base substitution T C intron_variant LINC-JP 3 72459878 72459878 single base substitution T C intron_variant LINC-JP 3 72463880 72463880 single base substitution C T intron_variant LINC-JP 3 72470410 72470410 single base substitution T C intron_variant LINC-JP 3 72474728 72474728 single base substitution T C intron_variant LINC-JP 3 72483750 72483750 single base substitution A G intron_variant LINC-JP 3 72493087 72493087 single base substitution T C intron_variant LINC-JP 3 72495514 72495514 single base substitution A C intron_variant LINC-JP 3 72495693 72495693 single base substitution C T missense_variant A126T 376G>A LINC-JP 3 72495790 72495790 single base substitution G A synonymous_variant H93H 279C>T LIRI-JP 3 72416289 72416289 single base substitution C G downstream_gene_variant LIRI-JP 3 72417702 72417702 single base substitution C T downstream_gene_variant LIRI-JP 3 72417982 72417982 single base substitution C T downstream_gene_variant LIRI-JP 3 72418952 72418952 single base substitution G A downstream_gene_variant LIRI-JP 3 72421572 72421572 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 72426659 72426659 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 72427047 72427047 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 72428581 72428581 single base substitution G T splice_region_variant LIRI-JP 3 72428639 72428639 single base substitution C T intron_variant LIRI-JP 3 72428860 72428860 single base substitution C T intron_variant LIRI-JP 3 72432927 72432927 single base substitution T C intron_variant LIRI-JP 3 72433203 72433203 single base substitution A C intron_variant LIRI-JP 3 72434506 72434506 single base substitution T C intron_variant LIRI-JP 3 72435335 72435335 single base substitution T C intron_variant LIRI-JP 3 72435962 72435962 single base substitution C T intron_variant LIRI-JP 3 72437979 72437979 single base substitution C T intron_variant LIRI-JP 3 72438030 72438030 single base substitution A T intron_variant LIRI-JP 3 72443886 72443886 single base substitution G A intron_variant LIRI-JP 3 72449239 72449239 single base substitution T C intron_variant LIRI-JP 3 72449359 72449359 single base substitution G C intron_variant LIRI-JP 3 72451110 72451110 single base substitution C T intron_variant LIRI-JP 3 72451656 72451656 single base substitution C T intron_variant LIRI-JP 3 72451937 72451937 single base substitution T C intron_variant LIRI-JP 3 72461847 72461847 single base substitution A C intron_variant LIRI-JP 3 72464225 72464225 single base substitution A C intron_variant LIRI-JP 3 72464360 72464360 single base substitution T C intron_variant LIRI-JP 3 72464456 72464456 single base substitution T C intron_variant LIRI-JP 3 72464600 72464600 single base substitution T C intron_variant LIRI-JP 3 72467817 72467817 single base substitution T C intron_variant LIRI-JP 3 72468518 72468518 single base substitution A C intron_variant LIRI-JP 3 72470652 72470652 single base substitution G A intron_variant LIRI-JP 3 72470846 72470846 single base substitution G A intron_variant LIRI-JP 3 72476009 72476009 single base substitution T C intron_variant LIRI-JP 3 72476314 72476314 single base substitution A C intron_variant LIRI-JP 3 72478211 72478211 single base substitution C T intron_variant LIRI-JP 3 72479089 72479089 single base substitution C T intron_variant LIRI-JP 3 72479700 72479700 single base substitution A C intron_variant LIRI-JP 3 72482418 72482418 insertion of <=200bp - ACT intron_variant LIRI-JP 3 72482962 72482962 single base substitution C T intron_variant LIRI-JP 3 72485072 72485072 single base substitution C A intron_variant LIRI-JP 3 72487656 72487656 single base substitution T C intron_variant LIRI-JP 3 72493336 72493336 single base substitution T C intron_variant LIRI-JP 3 72493872 72493872 single base substitution T C intron_variant LIRI-JP 3 72494186 72494186 single base substitution T G intron_variant LIRI-JP 3 72494194 72494194 deletion of <=200bp T - intron_variant LIRI-JP 3 72497355 72497360 deletion of <=200bp AGACAC - upstream_gene_variant LIRI-JP 3 72498434 72498434 single base substitution T C upstream_gene_variant LIRI-JP 3 72498976 72498976 single base substitution A G upstream_gene_variant LIRI-JP 3 72499755 72499755 single base substitution A G upstream_gene_variant LIRI-JP 3 72499894 72499894 single base substitution C A upstream_gene_variant LIRI-JP 3 72500177 72500177 single base substitution C G upstream_gene_variant LIRI-JP 3 72500995 72500995 single base substitution G A upstream_gene_variant LUSC-KR 3 72417585 72417585 single base substitution A G downstream_gene_variant LUSC-KR 3 72421150 72421150 single base substitution G C 3_prime_UTR_variant LUSC-KR 3 72424471 72424471 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 72426074 72426074 single base substitution T A 3_prime_UTR_variant LUSC-KR 3 72426650 72426650 single base substitution G C 3_prime_UTR_variant LUSC-KR 3 72454262 72454262 single base substitution C T intron_variant LUSC-KR 3 72464690 72464690 single base substitution G C intron_variant LUSC-KR 3 72469686 72469686 single base substitution C G intron_variant LUSC-KR 3 72472385 72472385 single base substitution G A intron_variant LUSC-KR 3 72477708 72477708 single base substitution C A intron_variant LUSC-KR 3 72480392 72480392 single base substitution G A intron_variant LUSC-KR 3 72494518 72494518 single base substitution G A intron_variant LUSC-KR 3 72497535 72497535 single base substitution G C upstream_gene_variant LUSC-KR 3 72499951 72499951 single base substitution A T upstream_gene_variant LUSC-US 3 72427648 72427648 single base substitution C A missense_variant G280V 839G>T MALY-DE 3 72418631 72418631 single base substitution G A downstream_gene_variant MALY-DE 3 72428542 72428544 deletion of <=200bp TTG - inframe_deletion Q153 MALY-DE 3 72434374 72434374 single base substitution C T intron_variant MALY-DE 3 72440784 72440784 single base substitution C T intron_variant MALY-DE 3 72443587 72443587 single base substitution C T intron_variant MALY-DE 3 72446682 72446682 single base substitution A G intron_variant MALY-DE 3 72448214 72448214 single base substitution C T intron_variant MALY-DE 3 72454137 72454137 single base substitution T C intron_variant MALY-DE 3 72458001 72458001 single base substitution T C intron_variant MALY-DE 3 72460697 72460697 single base substitution A T intron_variant MALY-DE 3 72465035 72465035 insertion of <=200bp - G intron_variant MALY-DE 3 72465157 72465157 single base substitution T C intron_variant MALY-DE 3 72471432 72471432 single base substitution A C intron_variant MALY-DE 3 72481272 72481272 single base substitution C A intron_variant MALY-DE 3 72483768 72483768 single base substitution C T intron_variant MALY-DE 3 72493656 72493656 single base substitution C A intron_variant MALY-DE 3 72493675 72493675 single base substitution C T intron_variant MELA-AU 3 72416056 72416056 single base substitution C T downstream_gene_variant MELA-AU 3 72416105 72416105 single base substitution C T downstream_gene_variant MELA-AU 3 72416609 72416609 single base substitution C T downstream_gene_variant MELA-AU 3 72416646 72416646 single base substitution C T downstream_gene_variant MELA-AU 3 72416652 72416652 single base substitution G A downstream_gene_variant MELA-AU 3 72416674 72416674 single base substitution G A downstream_gene_variant MELA-AU 3 72416811 72416811 single base substitution G C downstream_gene_variant MELA-AU 3 72416856 72416856 single base substitution G A downstream_gene_variant MELA-AU 3 72417141 72417141 single base substitution G A downstream_gene_variant MELA-AU 3 72417251 72417251 single base substitution G A downstream_gene_variant MELA-AU 3 72417804 72417804 single base substitution G A downstream_gene_variant MELA-AU 3 72417940 72417941 multiple base substitution (>=2bp and <=200bp) GC TT downstream_gene_variant MELA-AU 3 72417943 72417943 single base substitution C A downstream_gene_variant MELA-AU 3 72418472 72418472 single base substitution A T downstream_gene_variant MELA-AU 3 72418952 72418952 single base substitution G A downstream_gene_variant MELA-AU 3 72419636 72419636 single base substitution A T downstream_gene_variant MELA-AU 3 72419792 72419792 single base substitution C T downstream_gene_variant MELA-AU 3 72420079 72420079 single base substitution G A downstream_gene_variant MELA-AU 3 72420296 72420296 single base substitution G A downstream_gene_variant MELA-AU 3 72420490 72420490 single base substitution G A downstream_gene_variant MELA-AU 3 72420685 72420685 single base substitution G A downstream_gene_variant MELA-AU 3 72421128 72421128 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72421363 72421363 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72421400 72421400 single base substitution A C 3_prime_UTR_variant MELA-AU 3 72421527 72421527 single base substitution C G 3_prime_UTR_variant MELA-AU 3 72421654 72421654 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72421741 72421741 single base substitution A T 3_prime_UTR_variant MELA-AU 3 72421828 72421828 single base substitution G T 3_prime_UTR_variant MELA-AU 3 72421852 72421852 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72422776 72422776 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72423212 72423212 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72423229 72423229 single base substitution A G 3_prime_UTR_variant MELA-AU 3 72424025 72424025 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72424187 72424187 single base substitution A G 3_prime_UTR_variant MELA-AU 3 72424562 72424562 single base substitution A G 3_prime_UTR_variant MELA-AU 3 72424624 72424624 single base substitution A T 3_prime_UTR_variant MELA-AU 3 72424794 72424794 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72425085 72425085 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72425217 72425217 single base substitution A G 3_prime_UTR_variant MELA-AU 3 72425593 72425593 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72426148 72426149 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 72426314 72426314 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72426363 72426363 single base substitution A G 3_prime_UTR_variant MELA-AU 3 72426625 72426625 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72426675 72426675 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72427369 72427369 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72427459 72427459 single base substitution G A 3_prime_UTR_variant MELA-AU 3 72427809 72427809 single base substitution G A intron_variant MELA-AU 3 72427976 72427976 single base substitution G A intron_variant MELA-AU 3 72428522 72428522 single base substitution G A missense_variant T160I 479C>T MELA-AU 3 72428817 72428817 single base substitution T C intron_variant MELA-AU 3 72429249 72429249 single base substitution C T intron_variant MELA-AU 3 72429983 72429983 single base substitution C A intron_variant MELA-AU 3 72430252 72430252 single base substitution G A intron_variant MELA-AU 3 72430257 72430257 single base substitution G A intron_variant MELA-AU 3 72430289 72430289 single base substitution G A intron_variant MELA-AU 3 72431026 72431026 single base substitution G A intron_variant MELA-AU 3 72431563 72431563 single base substitution G A intron_variant MELA-AU 3 72431773 72431773 single base substitution G A intron_variant MELA-AU 3 72432384 72432384 single base substitution G A intron_variant MELA-AU 3 72432554 72432554 single base substitution C T intron_variant MELA-AU 3 72433680 72433680 single base substitution G A intron_variant MELA-AU 3 72434372 72434372 single base substitution C G intron_variant MELA-AU 3 72434791 72434791 single base substitution G A intron_variant MELA-AU 3 72435093 72435093 single base substitution G A intron_variant MELA-AU 3 72435781 72435781 single base substitution G A intron_variant MELA-AU 3 72435946 72435946 single base substitution G A intron_variant MELA-AU 3 72437602 72437602 single base substitution C T intron_variant MELA-AU 3 72437994 72437994 single base substitution G A intron_variant MELA-AU 3 72438711 72438711 single base substitution C T intron_variant MELA-AU 3 72439009 72439009 single base substitution C T intron_variant MELA-AU 3 72439031 72439031 single base substitution G A intron_variant MELA-AU 3 72439248 72439248 single base substitution G A intron_variant MELA-AU 3 72439725 72439725 single base substitution G A intron_variant MELA-AU 3 72440144 72440144 single base substitution G A intron_variant MELA-AU 3 72441030 72441030 single base substitution T G intron_variant MELA-AU 3 72441161 72441161 single base substitution A G intron_variant MELA-AU 3 72441441 72441441 single base substitution G A intron_variant MELA-AU 3 72442247 72442247 single base substitution G A intron_variant MELA-AU 3 72442306 72442306 single base substitution A C intron_variant MELA-AU 3 72442543 72442543 single base substitution G A intron_variant MELA-AU 3 72442951 72442951 single base substitution C T intron_variant MELA-AU 3 72443125 72443125 single base substitution G A intron_variant MELA-AU 3 72443256 72443256 single base substitution C T intron_variant MELA-AU 3 72443580 72443583 deletion of <=200bp TCTC - intron_variant MELA-AU 3 72443708 72443708 single base substitution A C intron_variant MELA-AU 3 72444468 72444468 single base substitution G A intron_variant MELA-AU 3 72444579 72444579 single base substitution A T intron_variant MELA-AU 3 72444724 72444724 single base substitution T C intron_variant MELA-AU 3 72445102 72445102 single base substitution T A intron_variant MELA-AU 3 72445527 72445527 single base substitution C T intron_variant MELA-AU 3 72446283 72446283 single base substitution C T intron_variant MELA-AU 3 72446794 72446794 single base substitution G A intron_variant MELA-AU 3 72446795 72446795 single base substitution A G intron_variant MELA-AU 3 72449901 72449923 deletion of <=200bp CCTAGAAAGGTCACCAAGACTTA - intron_variant MELA-AU 3 72450400 72450400 single base substitution A C intron_variant MELA-AU 3 72451707 72451707 single base substitution C T intron_variant MELA-AU 3 72452517 72452517 single base substitution G A intron_variant MELA-AU 3 72452651 72452651 single base substitution G A intron_variant MELA-AU 3 72453033 72453033 single base substitution C T intron_variant MELA-AU 3 72453367 72453367 single base substitution G A intron_variant MELA-AU 3 72453999 72453999 single base substitution G A intron_variant MELA-AU 3 72455161 72455161 single base substitution G A intron_variant MELA-AU 3 72456002 72456002 single base substitution G A intron_variant MELA-AU 3 72456073 72456073 single base substitution A T intron_variant MELA-AU 3 72456856 72456856 single base substitution T C intron_variant MELA-AU 3 72457803 72457803 single base substitution G A intron_variant MELA-AU 3 72458419 72458419 single base substitution G T intron_variant MELA-AU 3 72459658 72459658 single base substitution A G intron_variant MELA-AU 3 72460011 72460012 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 72460614 72460614 single base substitution G T intron_variant MELA-AU 3 72460977 72460977 single base substitution G A intron_variant MELA-AU 3 72461189 72461189 single base substitution A G intron_variant MELA-AU 3 72461563 72461563 single base substitution A C intron_variant MELA-AU 3 72461882 72461882 single base substitution C A intron_variant MELA-AU 3 72462010 72462010 single base substitution G A intron_variant MELA-AU 3 72462822 72462822 single base substitution G A intron_variant MELA-AU 3 72463548 72463548 single base substitution C T intron_variant MELA-AU 3 72463580 72463580 single base substitution C T intron_variant MELA-AU 3 72463789 72463789 single base substitution G A intron_variant MELA-AU 3 72464705 72464705 single base substitution T C intron_variant MELA-AU 3 72464954 72464954 single base substitution G A intron_variant MELA-AU 3 72465305 72465305 single base substitution G A intron_variant MELA-AU 3 72465514 72465514 single base substitution T G intron_variant MELA-AU 3 72465579 72465580 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 72465596 72465596 single base substitution G A intron_variant MELA-AU 3 72465933 72465933 single base substitution G A intron_variant MELA-AU 3 72466042 72466042 single base substitution C T intron_variant MELA-AU 3 72466051 72466051 single base substitution G A intron_variant MELA-AU 3 72466490 72466490 single base substitution T C intron_variant MELA-AU 3 72467279 72467279 single base substitution A G intron_variant MELA-AU 3 72467691 72467691 single base substitution G A intron_variant MELA-AU 3 72468530 72468530 single base substitution G A intron_variant MELA-AU 3 72468748 72468748 single base substitution T A intron_variant MELA-AU 3 72468778 72468778 single base substitution C T intron_variant MELA-AU 3 72469348 72469348 single base substitution G A intron_variant MELA-AU 3 72469507 72469507 single base substitution C T intron_variant MELA-AU 3 72469535 72469535 single base substitution G A intron_variant MELA-AU 3 72469987 72469987 single base substitution A C intron_variant MELA-AU 3 72470355 72470355 single base substitution G A intron_variant MELA-AU 3 72470387 72470387 single base substitution G A intron_variant MELA-AU 3 72470405 72470405 single base substitution A T intron_variant MELA-AU 3 72470413 72470413 single base substitution G A intron_variant MELA-AU 3 72470424 72470424 single base substitution G A intron_variant MELA-AU 3 72470877 72470878 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 3 72471159 72471159 single base substitution G A intron_variant MELA-AU 3 72471287 72471287 single base substitution G A intron_variant MELA-AU 3 72471317 72471318 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 72471401 72471401 single base substitution G A intron_variant MELA-AU 3 72471749 72471749 single base substitution G A intron_variant MELA-AU 3 72471868 72471868 single base substitution T G intron_variant MELA-AU 3 72471871 72471871 single base substitution G A intron_variant MELA-AU 3 72472888 72472888 single base substitution G A intron_variant MELA-AU 3 72473068 72473068 single base substitution G A intron_variant MELA-AU 3 72473118 72473118 single base substitution T C intron_variant MELA-AU 3 72473191 72473191 single base substitution T A intron_variant MELA-AU 3 72473226 72473226 single base substitution G A intron_variant MELA-AU 3 72474021 72474021 single base substitution T C intron_variant MELA-AU 3 72474100 72474100 single base substitution C T intron_variant MELA-AU 3 72474308 72474308 single base substitution G A intron_variant MELA-AU 3 72475181 72475181 single base substitution G A intron_variant MELA-AU 3 72475474 72475474 single base substitution G A intron_variant MELA-AU 3 72475995 72475995 single base substitution G C intron_variant MELA-AU 3 72476765 72476765 single base substitution C T intron_variant MELA-AU 3 72476808 72476808 single base substitution G A intron_variant MELA-AU 3 72476889 72476889 single base substitution A T intron_variant MELA-AU 3 72477074 72477074 single base substitution T C intron_variant MELA-AU 3 72477230 72477230 single base substitution G A intron_variant MELA-AU 3 72477235 72477235 single base substitution A T intron_variant MELA-AU 3 72477424 72477424 single base substitution A T intron_variant MELA-AU 3 72477719 72477719 single base substitution G A intron_variant MELA-AU 3 72478207 72478207 deletion of <=200bp A - intron_variant MELA-AU 3 72480179 72480179 single base substitution G A intron_variant MELA-AU 3 72480388 72480388 single base substitution A G intron_variant MELA-AU 3 72480845 72480845 single base substitution A T intron_variant MELA-AU 3 72480950 72480950 single base substitution C T intron_variant MELA-AU 3 72481036 72481036 single base substitution G A intron_variant MELA-AU 3 72481509 72481509 single base substitution G A intron_variant MELA-AU 3 72481559 72481559 single base substitution G A intron_variant MELA-AU 3 72481965 72481965 single base substitution G A intron_variant MELA-AU 3 72482199 72482199 single base substitution C A intron_variant MELA-AU 3 72483430 72483430 single base substitution G A intron_variant MELA-AU 3 72483610 72483610 single base substitution T A intron_variant MELA-AU 3 72483927 72483927 single base substitution G A intron_variant MELA-AU 3 72484454 72484454 single base substitution G A intron_variant MELA-AU 3 72484656 72484656 single base substitution G A intron_variant MELA-AU 3 72485773 72485777 deletion of <=200bp AACAA - intron_variant MELA-AU 3 72485816 72485816 single base substitution C T intron_variant MELA-AU 3 72487992 72487992 single base substitution G A intron_variant MELA-AU 3 72487998 72487998 single base substitution G A intron_variant MELA-AU 3 72488081 72488082 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 72488235 72488236 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 72489448 72489448 single base substitution G A intron_variant MELA-AU 3 72490272 72490272 single base substitution A G intron_variant MELA-AU 3 72490773 72490773 single base substitution G A intron_variant MELA-AU 3 72491097 72491098 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 72492011 72492011 single base substitution G A intron_variant MELA-AU 3 72492118 72492118 single base substitution A G intron_variant MELA-AU 3 72492194 72492194 single base substitution G A intron_variant MELA-AU 3 72492686 72492686 single base substitution C T intron_variant MELA-AU 3 72492894 72492894 single base substitution G A intron_variant MELA-AU 3 72493136 72493136 single base substitution G A intron_variant MELA-AU 3 72494600 72494600 single base substitution C T intron_variant MELA-AU 3 72494661 72494661 single base substitution A G intron_variant MELA-AU 3 72497796 72497796 single base substitution G A upstream_gene_variant MELA-AU 3 72498525 72498525 single base substitution C T upstream_gene_variant MELA-AU 3 72498774 72498774 single base substitution C A upstream_gene_variant MELA-AU 3 72499125 72499126 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 72499237 72499237 single base substitution G A upstream_gene_variant MELA-AU 3 72499552 72499552 single base substitution A C upstream_gene_variant MELA-AU 3 72500171 72500171 single base substitution C T upstream_gene_variant MELA-AU 3 72500316 72500316 single base substitution C T upstream_gene_variant MELA-AU 3 72500360 72500360 single base substitution T A upstream_gene_variant MELA-AU 3 72500380 72500380 single base substitution C T upstream_gene_variant MELA-AU 3 72500406 72500406 single base substitution T G upstream_gene_variant MELA-AU 3 72500433 72500433 single base substitution C T upstream_gene_variant MELA-AU 3 72500839 72500839 single base substitution C T upstream_gene_variant ORCA-IN 3 72417765 72417765 single base substitution C T downstream_gene_variant ORCA-IN 3 72479684 72479684 single base substitution C T intron_variant OV-AU 3 72417559 72417559 single base substitution C T downstream_gene_variant OV-AU 3 72417584 72417584 single base substitution C T downstream_gene_variant OV-AU 3 72418740 72418740 single base substitution T A downstream_gene_variant OV-AU 3 72418741 72418741 single base substitution C G downstream_gene_variant OV-AU 3 72425634 72425634 single base substitution A G 3_prime_UTR_variant OV-AU 3 72434981 72434981 single base substitution G C intron_variant OV-AU 3 72437279 72437279 single base substitution G A intron_variant OV-AU 3 72437714 72437714 single base substitution G C intron_variant OV-AU 3 72441142 72441142 single base substitution G A intron_variant OV-AU 3 72462550 72462550 single base substitution C T intron_variant OV-AU 3 72470592 72470592 single base substitution G A intron_variant OV-AU 3 72474215 72474215 single base substitution A C intron_variant OV-AU 3 72475681 72475681 single base substitution A G intron_variant OV-AU 3 72489570 72489570 single base substitution T C intron_variant PACA-AU 3 72417028 72417029 deletion of <=200bp CT - downstream_gene_variant PACA-AU 3 72419120 72419120 single base substitution T C downstream_gene_variant PACA-AU 3 72420018 72420018 single base substitution C A downstream_gene_variant PACA-AU 3 72420643 72420643 single base substitution C G downstream_gene_variant PACA-AU 3 72421637 72421637 single base substitution G T 3_prime_UTR_variant PACA-AU 3 72426075 72426075 single base substitution T A 3_prime_UTR_variant PACA-AU 3 72428210 72428210 single base substitution C A stop_gained E227* 679G>T PACA-AU 3 72428514 72428514 single base substitution G A missense_variant P163S 487C>T PACA-AU 3 72435091 72435091 single base substitution A T intron_variant PACA-AU 3 72437778 72437778 single base substitution G T intron_variant PACA-AU 3 72440517 72440517 single base substitution G C intron_variant PACA-AU 3 72441095 72441095 insertion of <=200bp - TA intron_variant PACA-AU 3 72443070 72443070 single base substitution C G intron_variant PACA-AU 3 72450929 72450929 single base substitution C A intron_variant PACA-AU 3 72455253 72455266 deletion of <=200bp GGGCTGACAAGACC - intron_variant PACA-AU 3 72470983 72470983 deletion of <=200bp T - intron_variant PACA-AU 3 72479446 72479446 single base substitution G A intron_variant PACA-AU 3 72480586 72480586 single base substitution T C intron_variant PACA-AU 3 72482497 72482497 insertion of <=200bp - A intron_variant PACA-AU 3 72489955 72489962 deletion of <=200bp AGGACACG - intron_variant PACA-AU 3 72490922 72490922 single base substitution T C intron_variant PACA-AU 3 72498454 72498454 single base substitution A G upstream_gene_variant PACA-CA 3 72418120 72418120 single base substitution T G downstream_gene_variant PACA-CA 3 72424250 72424250 single base substitution C A 3_prime_UTR_variant PACA-CA 3 72443819 72443819 single base substitution G A intron_variant PACA-CA 3 72445079 72445079 single base substitution C G intron_variant PACA-CA 3 72445738 72445738 single base substitution C T intron_variant PACA-CA 3 72447903 72447903 single base substitution C T intron_variant PACA-CA 3 72449411 72449411 single base substitution C A intron_variant PACA-CA 3 72450619 72450619 single base substitution G T intron_variant PACA-CA 3 72452854 72452857 deletion of <=200bp GGAT - intron_variant PACA-CA 3 72453234 72453234 single base substitution G A intron_variant PACA-CA 3 72457847 72457847 single base substitution C T intron_variant PACA-CA 3 72459317 72459322 deletion of <=200bp GCCACT - intron_variant PACA-CA 3 72460294 72460294 single base substitution T C intron_variant PACA-CA 3 72461190 72461190 single base substitution G A intron_variant PACA-CA 3 72470037 72470037 single base substitution C T intron_variant PACA-CA 3 72472515 72472515 single base substitution A G intron_variant PACA-CA 3 72473320 72473320 deletion of <=200bp A - intron_variant PACA-CA 3 72473654 72473654 single base substitution G A intron_variant PACA-CA 3 72474053 72474053 single base substitution G C intron_variant PACA-CA 3 72476893 72476897 deletion of <=200bp GAAAT - intron_variant PACA-CA 3 72477519 72477519 single base substitution A T intron_variant PACA-CA 3 72479751 72479751 single base substitution C T intron_variant PACA-CA 3 72480178 72480178 single base substitution G A intron_variant PACA-CA 3 72482920 72482920 deletion of <=200bp A - intron_variant PACA-CA 3 72484071 72484071 single base substitution C T intron_variant PACA-CA 3 72487793 72487793 deletion of <=200bp A - intron_variant PACA-CA 3 72491191 72491191 single base substitution C A intron_variant PACA-CA 3 72494897 72494897 single base substitution T A intron_variant PACA-CA 3 72498821 72498821 single base substitution G T upstream_gene_variant PACA-CA 3 72499166 72499166 single base substitution G A upstream_gene_variant PAEN-AU 3 72456593 72456593 single base substitution C T intron_variant PAEN-AU 3 72480471 72480471 single base substitution A G intron_variant PAEN-AU 3 72495072 72495072 single base substitution A C intron_variant PAEN-IT 3 72450648 72450648 single base substitution G C intron_variant PAEN-IT 3 72500210 72500210 single base substitution T A upstream_gene_variant PBCA-DE 3 72460858 72460858 single base substitution G T intron_variant PBCA-DE 3 72472560 72472560 single base substitution C A intron_variant PBCA-DE 3 72478377 72478377 insertion of <=200bp - A intron_variant PBCA-DE 3 72479014 72479014 insertion of <=200bp - A intron_variant PBCA-DE 3 72489797 72489797 single base substitution C T intron_variant PBCA-DE 3 72493928 72493929 deletion of <=200bp AA - intron_variant PBCA-DE 3 72495044 72495044 single base substitution C A intron_variant PRAD-CA 3 72438894 72438894 single base substitution C A intron_variant PRAD-CA 3 72492079 72492079 single base substitution C T intron_variant PRAD-UK 3 72427383 72427383 single base substitution G A 3_prime_UTR_variant PRAD-UK 3 72459680 72459700 deletion of <=200bp AAATAAAAAGTACAGGAATTC - intron_variant PRAD-UK 3 72463520 72463539 deletion of <=200bp AGTGTGGCAGTTTCTTTAAA - intron_variant PRAD-UK 3 72469930 72469930 single base substitution A C intron_variant PRAD-UK 3 72481426 72481426 single base substitution C T intron_variant PRAD-UK 3 72485358 72485358 single base substitution T G intron_variant PRAD-UK 3 72494750 72494750 single base substitution C T intron_variant PRAD-UK 3 72495530 72495530 insertion of <=200bp - A intron_variant PRAD-US 3 72427735 72427735 single base substitution A C missense_variant V251G 752T>G PRAD-US 3 72428400 72428400 single base substitution A T splice_donor_variant PRAD-US 3 72428496 72428496 single base substitution T C missense_variant K169E 505A>G PRAD-US 3 72495650 72495650 single base substitution G A missense_variant T140I 419C>T RECA-EU 3 72426073 72426073 single base substitution T A 3_prime_UTR_variant RECA-EU 3 72427535 72427535 single base substitution T C 3_prime_UTR_variant RECA-EU 3 72427554 72427554 single base substitution G C synonymous_variant V311V 933C>G RECA-EU 3 72427587 72427587 single base substitution A G synonymous_variant R300R 900T>C RECA-EU 3 72427599 72427599 single base substitution C T synonymous_variant K296K 888G>A RECA-EU 3 72427617 72427617 single base substitution C G synonymous_variant G290G 870G>C RECA-EU 3 72427671 72427671 single base substitution T A synonymous_variant S272S 816A>T RECA-EU 3 72427680 72427680 single base substitution C G synonymous_variant S269S 807G>C RECA-EU 3 72427683 72427683 single base substitution T G synonymous_variant S268S 804A>C RECA-EU 3 72434337 72434337 single base substitution G C intron_variant RECA-EU 3 72447504 72447504 single base substitution A G intron_variant RECA-EU 3 72451850 72451850 single base substitution T A intron_variant RECA-EU 3 72454797 72454797 single base substitution T C intron_variant RECA-EU 3 72462598 72462598 single base substitution A T intron_variant RECA-EU 3 72466008 72466008 single base substitution C G intron_variant RECA-EU 3 72473259 72473259 single base substitution A T intron_variant RECA-EU 3 72478119 72478119 single base substitution T G intron_variant RECA-EU 3 72478936 72478936 single base substitution A G intron_variant RECA-EU 3 72480008 72480008 single base substitution C A intron_variant RECA-EU 3 72480384 72480384 single base substitution A G intron_variant RECA-EU 3 72500953 72500953 single base substitution A G upstream_gene_variant SKCA-BR 3 72419765 72419765 insertion of <=200bp - CGG downstream_gene_variant SKCA-BR 3 72420561 72420561 single base substitution G A downstream_gene_variant SKCA-BR 3 72429699 72429699 single base substitution G A intron_variant SKCA-BR 3 72431606 72431606 single base substitution G A intron_variant SKCA-BR 3 72431934 72431934 single base substitution T A intron_variant SKCA-BR 3 72433761 72433761 single base substitution A C intron_variant SKCA-BR 3 72435598 72435598 single base substitution G A intron_variant SKCA-BR 3 72435823 72435823 single base substitution G A intron_variant SKCA-BR 3 72436504 72436504 single base substitution G A intron_variant SKCA-BR 3 72439496 72439496 single base substitution G A intron_variant SKCA-BR 3 72444463 72444463 single base substitution C A intron_variant SKCA-BR 3 72444464 72444464 single base substitution C T intron_variant SKCA-BR 3 72446684 72446684 single base substitution G A intron_variant SKCA-BR 3 72449575 72449575 single base substitution G A intron_variant SKCA-BR 3 72451765 72451765 single base substitution T C intron_variant SKCA-BR 3 72453771 72453771 single base substitution C G intron_variant SKCA-BR 3 72454234 72454234 single base substitution C T intron_variant SKCA-BR 3 72455354 72455354 single base substitution A G intron_variant SKCA-BR 3 72456534 72456534 single base substitution A C intron_variant SKCA-BR 3 72458464 72458464 single base substitution A T intron_variant SKCA-BR 3 72463610 72463610 single base substitution A G intron_variant SKCA-BR 3 72464734 72464734 insertion of <=200bp - CA intron_variant SKCA-BR 3 72464788 72464788 single base substitution C A intron_variant SKCA-BR 3 72467228 72467228 single base substitution C G intron_variant SKCA-BR 3 72470735 72470735 single base substitution T A intron_variant SKCA-BR 3 72471407 72471407 single base substitution G A intron_variant SKCA-BR 3 72472190 72472190 single base substitution G A intron_variant SKCA-BR 3 72475632 72475632 single base substitution A C intron_variant SKCA-BR 3 72480282 72480282 single base substitution A G intron_variant SKCA-BR 3 72480294 72480294 single base substitution A G intron_variant SKCA-BR 3 72480302 72480302 single base substitution A G intron_variant SKCA-BR 3 72480306 72480306 single base substitution A G intron_variant SKCA-BR 3 72480310 72480310 single base substitution A G intron_variant SKCA-BR 3 72480318 72480318 single base substitution A G intron_variant SKCA-BR 3 72480440 72480440 single base substitution A G intron_variant SKCA-BR 3 72480443 72480446 deletion of <=200bp AAAG - intron_variant SKCA-BR 3 72480452 72480455 deletion of <=200bp AAAG - intron_variant SKCA-BR 3 72480490 72480490 insertion of <=200bp - AAG intron_variant SKCA-BR 3 72480494 72480494 insertion of <=200bp - AAG intron_variant SKCA-BR 3 72495604 72495604 insertion of <=200bp - AG intron_variant SKCA-BR 3 72495612 72495612 single base substitution T A intron_variant SKCA-BR 3 72495754 72495754 single base substitution T G missense_variant K105N 315A>C SKCA-BR 3 72497615 72497615 single base substitution G A upstream_gene_variant SKCA-BR 3 72497750 72497750 single base substitution C T upstream_gene_variant SKCM-US 3 72427589 72427589 single base substitution G A missense_variant R300C 898C>T SKCM-US 3 72427681 72427681 single base substitution G A missense_variant S269L 806C>T SKCM-US 3 72495776 72495776 single base substitution C A missense_variant G98V 293G>T STAD-US 3 72427783 72427783 single base substitution C T missense_variant R235Q 704G>A STAD-US 3 72428231 72428231 single base substitution T C missense_variant N220D 658A>G STAD-US 3 72428498 72428498 single base substitution T G missense_variant K168T 503A>C THCA-SA 3 72424471 72424471 single base substitution A G 3_prime_UTR_variant UCEC-US 3 72427728 72427728 single base substitution G A synonymous_variant N253N 759C>T UCEC-US 3 72428419 72428419 single base substitution A C missense_variant N194K 582T>G UCEC-US 3 72428499 72428499 single base substitution T C missense_variant K168E 502A>G UCEC-US 3 72428501 72428501 single base substitution T C missense_variant E167G 500A>G UCEC-US 3 72428507 72428507 single base substitution T G missense_variant K165T 494A>C UCEC-US 3 72428550 72428550 single base substitution C T missense_variant A151T 451G>A UCEC-US 3 72428561 72428561 single base substitution G A missense_variant S147F 440C>T UCEC-US 3 72495648 72495648 single base substitution T G splice_region_variant UCEC-US 3 72495812 72495812 single base substitution G A missense_variant P86L 257C>T UCEC-US 3 72495823 72495823 single base substitution G T synonymous_variant S82S 246C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC127T COSM3660719 c.600+6T>G p.? Unknown 3:72379245-72379245 - 587342 COSM1224442 c.624A>T p.K208N Substitution - Missense 3:72379115-72379115 - HCC127 COSM3660719 c.600+6T>G p.? Unknown 3:72379245-72379245 - 8044558 COSM4389466 c.680G>T p.S227I Substitution - Missense 3:72379059-72379059 - C0089T COSM2826220 c.871G>C p.G291R Substitution - Missense 3:72378466-72378466 - TCGA-BS-A0UJ-01 COSM1048382 c.503A>G p.E168G Substitution - Missense 3:72379348-72379348 - C0017T COSM2826220 c.871G>C p.G291R Substitution - Missense 3:72378466-72378466 - TCGA-EJ-7330-01 COSM1471630 c.600+2T>A p.? Unknown 3:72379249-72379249 - TCGA-EB-A431-01 COSM3597351 c.899C>T p.S300F Substitution - Missense 3:72378438-72378438 - 8068564 COSM3781697 c.488C>T p.P163L Substitution - Missense 3:72379363-72379363 - T3049 COSM4723209 c.642A>G p.A214A Substitution - coding silent 3:72379097-72379097 - RK205_C01 COSM3767544 c.424-3C>A p.? Unknown 3:72379430-72379430 - ESCC_3 COSM5622610 c.316A>C p.K106Q Substitution - Missense 3:72446603-72446603 - HN_00076 COSM121782 c.349C>T p.S117S Substitution - coding silent 3:72446570-72446570 - TCGA-CH-5744-01 COSM1131356 c.506A>G p.K169R Substitution - Missense 3:72379345-72379345 - T3021 COSM2826224 c.714delA p.N239fs*12 Deletion - Frameshift 3:72378623-72378623 - HCC45T COSM3660721 c.280C>T p.H94Y Substitution - Missense 3:72446639-72446639 - C0045T COSM2826220 c.871G>C p.G291R Substitution - Missense 3:72378466-72378466 - Pat_11_B COSM5865285 c.635G>C p.S212T Substitution - Missense 3:72379104-72379104 - HCC45 COSM3660721 c.280C>T p.H94Y Substitution - Missense 3:72446639-72446639 - TCGA-J4-A67Q-01 COSM4393469 c.753T>G p.T251T Substitution - coding silent 3:72378584-72378584 - C0072T COSM2826220 c.871G>C p.G291R Substitution - Missense 3:72378466-72378466 - TCGA-HC-7740-01 COSM1471628 c.420C>T p.S140S Substitution - coding silent 3:72446499-72446499 - L3230 COSM1744992 c.424-2A>G p.? Unknown 3:72379429-72379429 - EOPC-133_tumor_01 COSM5950870 c.385A>C p.K129Q Substitution - Missense 3:72446534-72446534 - C0058T COSM2826220 c.871G>C p.G291R Substitution - Missense 3:72378466-72378466 - TCGA-AZ-4315-01 COSM1425261 c.867C>T p.S289S Substitution - coding silent 3:72378470-72378470 - YUVEME COSM5400002 c.703C>T p.P235S Substitution - Missense 3:72378634-72378634 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.7910 3p13 607535 2451101|CGAP|BC036459|A/C|non-coding||2244|Candidate; 2451102|CGAP|BC036459|A/C|non-coding||2233|Candidate; 2451104|CGAP|BC036459|C/T|non-coding||2042|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C251W c.753T>G 3 72427735 PRAD A T SpliceDonorSNV . c.600+2T>A 3 72428400 PRAD C A Missense p.*125L c.374G>T 3 72495696 HNSC C A Missense p.R280S c.840G>T 3 72427648 LUSC C A Synonymous p.R98R c.294G>T 3 72495776 CM C G Missense p.*173S c.518G>C 3 72428484 BLCA C T Missense p.E198K c.592G>A 3 72428410 ESCA C T Missense p.G290E c.869G>A 3 72427619 GBM G A 3-UTRSNV . c.949+58C>T 3 72427481 CM G A Missense p.R117C c.349C>T 3 72495721 HNSC G A Missense p.S148L c.443C>T 3 72428559 HNSC G A Synonymous p.H140H c.420C>T 3 72495650 PRAD G A Synonymous p.I269I c.807C>T 3 72427681 CM G C IntronicSNV . c.424-11333C>G 3 72439911 CLL G C Missense p.R117G c.349C>G 3 72495721 LUAD G T Missense p.P300Q c.899C>A 3 72427589 CM T C 3-UTRSNV . c.949+880A>G 3 72426659 HC T C Missense p.E169G c.506A>G 3 72428496 PRAD