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 2 74058012 74058012 + Missense_Mutation SNP C C T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr2:74058012C>T c.29C>T c.(28-30)cCg>cTg p.P10L BLCA 2 74074811 74074811 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr2:74074811G>T c.673G>T c.(673-675)Gta>Tta p.V225L BLCA 2 74074826 74074826 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr2:74074826C>T c.688C>T c.(688-690)Cca>Tca p.P230S BLCA 2 74074838 74074838 + Missense_Mutation SNP G G T TCGA-E7-A6ME-01A-22D-A32B-08 TCGA-E7-A6ME-10B-01D-A329-08 g.chr2:74074838G>T c.700G>T c.(700-702)Gac>Tac p.D234Y BLCA 2 74074845 74074845 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr2:74074845C>T c.707C>T c.(706-708)tCc>tTc p.S236F BLCA 2 74076511 74076511 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr2:74076511G>A c.764G>A c.(763-765)cGc>cAc p.R255H BLCA 2 74077584 74077584 + Missense_Mutation SNP G G C TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr2:74077584G>C c.949G>C c.(949-951)Gaa>Caa p.E317Q BRCA 2 74058086 74058086 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 g.chr2:74058086C>T c.103C>T c.(103-105)Cgg>Tgg p.R35W BRCA 2 74072326 74072326 + Missense_Mutation SNP A A C TCGA-E9-A3X8-01A-31D-A22X-09 TCGA-E9-A3X8-10B-01D-A22X-09 g.chr2:74072326A>C c.312A>C c.(310-312)gaA>gaC p.E104D BRCA 2 74074806 74074806 + Frame_Shift_Del DEL C C - TCGA-OL-A5RU-01A-11D-A28B-09 TCGA-OL-A5RU-10A-01D-A28E-09 g.chr2:74074806delC c.668delC c.(667-669)acafs p.T224fs BRCA 2 74074849 74074849 + Silent SNP G G A TCGA-A2-A0CK-01A-11D-A228-09 TCGA-A2-A0CK-10A-01D-A22A-09 g.chr2:74074849G>A c.711G>A c.(709-711)ttG>ttA p.L237L CESC 2 74077619 74077619 + Silent SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr2:74077619C>T c.984C>T c.(982-984)ctC>ctT p.L328L COAD 2 74072351 74072351 + Nonsense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:74072351C>T c.337C>T c.(337-339)Cga>Tga p.R113* COAD 2 74074626 74074626 + Missense_Mutation SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:74074626A>G c.488A>G c.(487-489)cAt>cGt p.H163R COAD 2 74074671 74074671 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:74074671G>A c.533G>A c.(532-534)cGa>cAa p.R178Q COAD 2 74076512 74076512 + Silent SNP C C T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr2:74076512C>T c.765C>T c.(763-765)cgC>cgT p.R255R COAD 2 74086467 74086467 + Silent SNP C C T TCGA-CM-6679-01A-11D-1835-10 TCGA-CM-6679-10A-01D-1835-10 g.chr2:74086467C>T c.1092C>T c.(1090-1092)gcC>gcT p.A364A COAD 2 74087188 74087188 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:74087188C>A c.1128C>A c.(1126-1128)ttC>ttA p.F376L COADREAD 2 74072351 74072351 + Nonsense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:74072351C>T c.337C>T c.(337-339)Cga>Tga p.R113* COADREAD 2 74074626 74074626 + Missense_Mutation SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:74074626A>G c.488A>G c.(487-489)cAt>cGt p.H163R COADREAD 2 74074671 74074671 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr2:74074671G>A c.533G>A c.(532-534)cGa>cAa p.R178Q COADREAD 2 74076512 74076512 + Silent SNP C C T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr2:74076512C>T c.765C>T c.(763-765)cgC>cgT p.R255R COADREAD 2 74086467 74086467 + Silent SNP C C T TCGA-CM-6679-01A-11D-1835-10 TCGA-CM-6679-10A-01D-1835-10 g.chr2:74086467C>T c.1092C>T c.(1090-1092)gcC>gcT p.A364A COADREAD 2 74087188 74087188 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:74087188C>A c.1128C>A c.(1126-1128)ttC>ttA p.F376L DLBC 2 74077556 74077556 + Silent SNP G G T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr2:74077556G>T c.921G>T c.(919-921)ggG>ggT p.G307G ESCA 2 74058030 74058030 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr2:74058030G>A c.47G>A c.(46-48)aGg>aAg p.R16K ESCA 2 74071986 74071986 + Missense_Mutation SNP G G T TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 g.chr2:74071986G>T c.250G>T c.(250-252)Gtc>Ttc p.V84F ESCA 2 74072312 74072312 + Missense_Mutation SNP T T C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 g.chr2:74072312T>C c.298T>C c.(298-300)Ttt>Ctt p.F100L GBMLGG 2 74074536 74074536 + Missense_Mutation SNP C C T TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chr2:74074536C>T c.398C>T c.(397-399)gCc>gTc p.A133V GBMLGG 2 74087264 74087264 + Missense_Mutation SNP C C T TCGA-E1-A7YK-01A-11D-A34A-08 TCGA-E1-A7YK-10A-01D-A34A-08 g.chr2:74087264C>T c.1204C>T c.(1204-1206)Cca>Tca p.P402S HNSC 2 74074516 74074516 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr2:74074516G>C c.378G>C c.(376-378)aaG>aaC p.K126N HNSC 2 74089382 74089382 + Missense_Mutation SNP G G A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr2:74089382G>A c.1271G>A c.(1270-1272)cGa>cAa p.R424Q KIPAN 2 74074605 74074605 + Missense_Mutation SNP A A T TCGA-CJ-4868-01A-01D-1373-10 TCGA-CJ-4868-11A-01D-1373-10 g.chr2:74074605A>T c.467A>T c.(466-468)cAa>cTa p.Q156L KIPAN 2 74087228 74087228 + Missense_Mutation SNP T T C TCGA-AK-3436-01A-02D-1386-10 TCGA-AK-3436-10A-01D-1251-10 g.chr2:74087228T>C c.1168T>C c.(1168-1170)Tgt>Cgt p.C390R KIRC 2 74074605 74074605 + Missense_Mutation SNP A A T TCGA-CJ-4868-01A-01D-1373-10 TCGA-CJ-4868-11A-01D-1373-10 g.chr2:74074605A>T c.467A>T c.(466-468)cAa>cTa p.Q156L KIRC 2 74087228 74087228 + Missense_Mutation SNP T T C TCGA-AK-3436-01A-02D-1386-10 TCGA-AK-3436-10A-01D-1251-10 g.chr2:74087228T>C c.1168T>C c.(1168-1170)Tgt>Cgt p.C390R LGG 2 74074536 74074536 + Missense_Mutation SNP C C T TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chr2:74074536C>T c.398C>T c.(397-399)gCc>gTc p.A133V LGG 2 74087264 74087264 + Missense_Mutation SNP C C T TCGA-E1-A7YK-01A-11D-A34A-08 TCGA-E1-A7YK-10A-01D-A34A-08 g.chr2:74087264C>T c.1204C>T c.(1204-1206)Cca>Tca p.P402S LUAD 2 74058069 74058069 + Missense_Mutation SNP A A C TCGA-86-8668-01A-11D-2393-08 TCGA-86-8668-10A-01D-2393-08 g.chr2:74058069A>C c.86A>C c.(85-87)gAa>gCa p.E29A LUAD 2 74071950 74071950 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr2:74071950G>A c.214G>A c.(214-216)Gag>Aag p.E72K LUAD 2 74074646 74074646 + Missense_Mutation SNP C C T TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr2:74074646C>T c.508C>T c.(508-510)Cgg>Tgg p.R170W LUAD 2 74089345 74089345 + Missense_Mutation SNP A A G TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chr2:74089345A>G c.1234A>G c.(1234-1236)Act>Gct p.T412A LUSC 2 74074661 74074661 + Missense_Mutation SNP G G C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr2:74074661G>C c.523G>C c.(523-525)Gaa>Caa p.E175Q LUSC 2 74087236 74087236 + Silent SNP G G A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr2:74087236G>A c.1176G>A c.(1174-1176)caG>caA p.Q392Q LUSC 2 74089375 74089375 + Missense_Mutation SNP G G A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr2:74089375G>A c.1264G>A c.(1264-1266)Gac>Aac p.D422N OV 2 74058187 74058187 + Splice_Site SNP G G T TCGA-24-1850-01A-01W-0639-09 TCGA-24-1850-10A-01W-0639-09 g.chr2:74058187G>T c.e2+1 OV 2 74076511 74076511 + Missense_Mutation SNP G G A TCGA-13-1492-01A-01D-0472-08 TCGA-13-1492-10A-01W-0545-08 g.chr2:74076511G>A c.764G>A c.(763-765)cGc>cAc p.R255H PRAD 2 74072296 74072296 + Silent SNP A A G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 g.chr2:74072296A>G c.282A>G c.(280-282)aaA>aaG p.K94K PRAD 2 74086401 74086401 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:74086401G>A c.1026G>A c.(1024-1026)gcG>gcA p.A342A SKCM 2 74058084 74058084 + Missense_Mutation SNP G G A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 g.chr2:74058084G>A c.101G>A c.(100-102)cGt>cAt p.R34H SKCM 2 74074526 74074526 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr2:74074526G>A c.388G>A c.(388-390)Gag>Aag p.E130K SKCM 2 74077595 74077595 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr2:74077595C>T c.960C>T c.(958-960)ttC>ttT p.F320F SKCM 2 74077595 74077595 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr2:74077595C>T c.960C>T c.(958-960)ttC>ttT p.F320F

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 2 74074811 74074811 single base substitution G T downstream_gene_variant BLCA-US 2 74074811 74074811 single base substitution G T exon_variant BLCA-US 2 74074811 74074811 single base substitution G T intron_variant BLCA-US 2 74074811 74074811 single base substitution G T missense_variant V225L 673G>T BLCA-US 2 74074811 74074811 single base substitution G T upstream_gene_variant BOCA-FR 2 74105768 74105768 single base substitution T G downstream_gene_variant BRCA-EU 2 74052900 74052900 single base substitution G A upstream_gene_variant BRCA-EU 2 74053075 74053075 single base substitution T C upstream_gene_variant BRCA-EU 2 74053120 74053120 single base substitution C G upstream_gene_variant BRCA-EU 2 74054454 74054454 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 74054616 74054616 single base substitution G C upstream_gene_variant BRCA-EU 2 74055607 74055607 single base substitution C G upstream_gene_variant BRCA-EU 2 74055930 74055930 single base substitution T G upstream_gene_variant BRCA-EU 2 74057097 74057097 single base substitution A G intron_variant BRCA-EU 2 74058401 74058401 deletion of <=200bp T - intron_variant BRCA-EU 2 74061887 74061887 single base substitution G A intron_variant BRCA-EU 2 74062223 74062223 single base substitution G A intron_variant BRCA-EU 2 74062869 74062869 single base substitution G C intron_variant BRCA-EU 2 74062939 74062939 single base substitution T C intron_variant BRCA-EU 2 74063202 74063202 single base substitution G A intron_variant BRCA-EU 2 74065233 74065233 single base substitution G A intron_variant BRCA-EU 2 74065708 74065708 single base substitution G T intron_variant BRCA-EU 2 74066246 74066246 single base substitution G C intron_variant BRCA-EU 2 74067691 74067691 single base substitution C T intron_variant BRCA-EU 2 74067691 74067691 single base substitution C T upstream_gene_variant BRCA-EU 2 74067717 74067717 single base substitution G C intron_variant BRCA-EU 2 74067717 74067717 single base substitution G C upstream_gene_variant BRCA-EU 2 74069162 74069162 single base substitution G A intron_variant BRCA-EU 2 74069162 74069162 single base substitution G A upstream_gene_variant BRCA-EU 2 74069749 74069749 single base substitution A T intron_variant BRCA-EU 2 74069749 74069749 single base substitution A T upstream_gene_variant BRCA-EU 2 74069910 74069910 single base substitution C A intron_variant BRCA-EU 2 74069910 74069910 single base substitution C A upstream_gene_variant BRCA-EU 2 74070431 74070431 single base substitution C T intron_variant BRCA-EU 2 74070431 74070431 single base substitution C T upstream_gene_variant BRCA-EU 2 74071637 74071638 deletion of <=200bp TC - intron_variant BRCA-EU 2 74071637 74071638 deletion of <=200bp TC - upstream_gene_variant BRCA-EU 2 74072852 74072852 single base substitution C T intron_variant BRCA-EU 2 74072852 74072852 single base substitution C T upstream_gene_variant BRCA-EU 2 74073422 74073422 single base substitution C T intron_variant BRCA-EU 2 74073422 74073422 single base substitution C T upstream_gene_variant BRCA-EU 2 74073740 74073740 single base substitution G A intron_variant BRCA-EU 2 74073740 74073740 single base substitution G A upstream_gene_variant BRCA-EU 2 74073813 74073813 single base substitution C G intron_variant BRCA-EU 2 74073813 74073813 single base substitution C G upstream_gene_variant BRCA-EU 2 74074370 74074370 single base substitution C G intron_variant BRCA-EU 2 74074370 74074370 single base substitution C G upstream_gene_variant BRCA-EU 2 74074970 74074970 single base substitution C T downstream_gene_variant BRCA-EU 2 74074970 74074970 single base substitution C T intron_variant BRCA-EU 2 74074970 74074970 single base substitution C T upstream_gene_variant BRCA-EU 2 74077305 74077305 single base substitution C T downstream_gene_variant BRCA-EU 2 74077305 74077305 single base substitution C T intron_variant BRCA-EU 2 74077305 74077305 single base substitution C T upstream_gene_variant BRCA-EU 2 74078269 74078269 single base substitution T C downstream_gene_variant BRCA-EU 2 74078269 74078269 single base substitution T C intron_variant BRCA-EU 2 74079364 74079364 single base substitution A G downstream_gene_variant BRCA-EU 2 74079364 74079364 single base substitution A G intron_variant BRCA-EU 2 74079478 74079478 single base substitution G C downstream_gene_variant BRCA-EU 2 74079478 74079478 single base substitution G C intron_variant BRCA-EU 2 74080835 74080835 single base substitution C G downstream_gene_variant BRCA-EU 2 74080835 74080835 single base substitution C G intron_variant BRCA-EU 2 74081303 74081303 single base substitution G A downstream_gene_variant BRCA-EU 2 74081303 74081303 single base substitution G A intron_variant BRCA-EU 2 74082243 74082243 single base substitution C T downstream_gene_variant BRCA-EU 2 74082243 74082243 single base substitution C T intron_variant BRCA-EU 2 74082243 74082243 single base substitution C T upstream_gene_variant BRCA-EU 2 74082580 74082580 single base substitution G A downstream_gene_variant BRCA-EU 2 74082580 74082580 single base substitution G A intron_variant BRCA-EU 2 74082580 74082580 single base substitution G A upstream_gene_variant BRCA-EU 2 74082623 74082624 deletion of <=200bp TT - intron_variant BRCA-EU 2 74082623 74082624 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 2 74084699 74084699 single base substitution G A intron_variant BRCA-EU 2 74084699 74084699 single base substitution G A upstream_gene_variant BRCA-EU 2 74085507 74085507 single base substitution C G intron_variant BRCA-EU 2 74085507 74085507 single base substitution C G upstream_gene_variant BRCA-EU 2 74087804 74087804 single base substitution C G intron_variant BRCA-EU 2 74089560 74089560 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 2 74089560 74089560 deletion of <=200bp T - exon_variant BRCA-EU 2 74089560 74089560 deletion of <=200bp T - intron_variant BRCA-EU 2 74091878 74091878 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 74091878 74091878 single base substitution G C downstream_gene_variant BRCA-EU 2 74091878 74091878 single base substitution G C intron_variant BRCA-EU 2 74092361 74092361 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 74092361 74092361 single base substitution C G downstream_gene_variant BRCA-EU 2 74092361 74092361 single base substitution C G intron_variant BRCA-EU 2 74092381 74092381 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 74092381 74092381 single base substitution G A downstream_gene_variant BRCA-EU 2 74092381 74092381 single base substitution G A intron_variant BRCA-EU 2 74092836 74092836 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 74092836 74092836 single base substitution G A downstream_gene_variant BRCA-EU 2 74092836 74092836 single base substitution G A intron_variant BRCA-EU 2 74093858 74093858 single base substitution A T 3_prime_UTR_variant BRCA-EU 2 74093858 74093858 single base substitution A T downstream_gene_variant BRCA-EU 2 74093858 74093858 single base substitution A T intron_variant BRCA-EU 2 74095641 74095641 single base substitution C G downstream_gene_variant BRCA-EU 2 74095641 74095641 single base substitution C G intron_variant BRCA-EU 2 74095655 74095655 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 74095655 74095655 deletion of <=200bp A - intron_variant BRCA-EU 2 74098397 74098397 single base substitution G C downstream_gene_variant BRCA-EU 2 74098397 74098397 single base substitution G C intron_variant BRCA-EU 2 74098792 74098792 single base substitution T A downstream_gene_variant BRCA-EU 2 74098792 74098792 single base substitution T A intron_variant BRCA-EU 2 74099388 74099388 single base substitution A G intron_variant BRCA-EU 2 74101561 74101561 single base substitution T G downstream_gene_variant BRCA-EU 2 74102185 74102185 single base substitution A T downstream_gene_variant BRCA-EU 2 74102693 74102693 single base substitution G A downstream_gene_variant BRCA-EU 2 74102879 74102879 single base substitution G A downstream_gene_variant BRCA-EU 2 74103635 74103635 single base substitution T C downstream_gene_variant BRCA-EU 2 74104832 74104832 single base substitution G T downstream_gene_variant BRCA-EU 2 74104982 74104982 single base substitution C T downstream_gene_variant BRCA-EU 2 74105440 74105440 single base substitution T C downstream_gene_variant BRCA-EU 2 74105469 74105469 single base substitution C A downstream_gene_variant BRCA-FR 2 74065708 74065708 single base substitution G T intron_variant BRCA-FR 2 74067717 74067717 single base substitution G C intron_variant BRCA-FR 2 74067717 74067717 single base substitution G C upstream_gene_variant BRCA-FR 2 74070431 74070431 single base substitution C T intron_variant BRCA-FR 2 74070431 74070431 single base substitution C T upstream_gene_variant BRCA-FR 2 74071719 74071719 single base substitution G A intron_variant BRCA-FR 2 74071719 74071719 single base substitution G A upstream_gene_variant BRCA-FR 2 74073422 74073422 single base substitution C T intron_variant BRCA-FR 2 74073422 74073422 single base substitution C T upstream_gene_variant BRCA-FR 2 74073813 74073813 single base substitution C G intron_variant BRCA-FR 2 74073813 74073813 single base substitution C G upstream_gene_variant BRCA-UK 2 74102693 74102693 single base substitution G A downstream_gene_variant BRCA-US 2 74058086 74058086 single base substitution C T missense_variant R35W 103C>T BRCA-US 2 74072326 74072326 single base substitution A C exon_variant BRCA-US 2 74072326 74072326 single base substitution A C missense_variant E104D 312A>C BRCA-US 2 74074806 74074806 deletion of <=200bp C - downstream_gene_variant BRCA-US 2 74074806 74074806 deletion of <=200bp C - exon_variant BRCA-US 2 74074806 74074806 deletion of <=200bp C - frameshift_variant T223 BRCA-US 2 74074806 74074806 deletion of <=200bp C - intron_variant BRCA-US 2 74074806 74074806 deletion of <=200bp C - upstream_gene_variant BRCA-US 2 74074849 74074849 single base substitution G A downstream_gene_variant BRCA-US 2 74074849 74074849 single base substitution G A exon_variant BRCA-US 2 74074849 74074849 single base substitution G A intron_variant BRCA-US 2 74074849 74074849 single base substitution G A synonymous_variant L237L 711G>A BRCA-US 2 74074849 74074849 single base substitution G A upstream_gene_variant BTCA-JP 2 74058178 74058178 single base substitution G C missense_variant K65N 195G>C BTCA-JP 2 74072398 74072398 single base substitution A G intron_variant BTCA-JP 2 74089495 74089495 deletion of <=200bp G - 3_prime_UTR_variant BTCA-JP 2 74089495 74089495 deletion of <=200bp G - exon_variant BTCA-JP 2 74089495 74089495 deletion of <=200bp G - intron_variant CESC-US 2 74077619 74077619 single base substitution C T downstream_gene_variant CESC-US 2 74077619 74077619 single base substitution C T exon_variant CESC-US 2 74077619 74077619 single base substitution C T synonymous_variant L328L 984C>T CLLE-ES 2 74056083 74056083 single base substitution G T upstream_gene_variant CLLE-ES 2 74057377 74057377 single base substitution A G intron_variant COAD-US 2 74072351 74072351 single base substitution C T exon_variant COAD-US 2 74072351 74072351 single base substitution C T stop_gained R113* 337C>T COAD-US 2 74074626 74074626 single base substitution A G downstream_gene_variant COAD-US 2 74074626 74074626 single base substitution A G exon_variant COAD-US 2 74074626 74074626 single base substitution A G missense_variant H163R 488A>G COAD-US 2 74074626 74074626 single base substitution A G upstream_gene_variant COAD-US 2 74076541 74076541 single base substitution C A downstream_gene_variant COAD-US 2 74076541 74076541 single base substitution C A exon_variant COAD-US 2 74076541 74076541 single base substitution C A missense_variant H205N 613C>A COAD-US 2 74076541 74076541 single base substitution C A missense_variant P265Q 794C>A COAD-US 2 74076541 74076541 single base substitution C A upstream_gene_variant COAD-US 2 74086467 74086467 single base substitution C T exon_variant COAD-US 2 74086467 74086467 single base substitution C T synonymous_variant A364A 1092C>T COAD-US 2 74086467 74086467 single base substitution C T upstream_gene_variant COCA-CN 2 74057929 74057929 single base substitution A G intron_variant COCA-CN 2 74058233 74058233 single base substitution C A intron_variant COCA-CN 2 74071833 74071833 single base substitution C A exon_variant COCA-CN 2 74071833 74071833 single base substitution C A intron_variant COCA-CN 2 74089267 74089267 single base substitution A G intron_variant COCA-CN 2 74089269 74089269 single base substitution A G intron_variant COCA-CN 2 74089270 74089270 single base substitution A G intron_variant COCA-CN 2 74089479 74089479 single base substitution T G 3_prime_UTR_variant COCA-CN 2 74089479 74089479 single base substitution T G exon_variant COCA-CN 2 74089479 74089479 single base substitution T G intron_variant EOPC-DE 2 74094104 74094104 single base substitution A G 3_prime_UTR_variant EOPC-DE 2 74094104 74094104 single base substitution A G downstream_gene_variant EOPC-DE 2 74094104 74094104 single base substitution A G intron_variant EOPC-DE 2 74101653 74101653 single base substitution C A downstream_gene_variant EOPC-DE 2 74102377 74102377 single base substitution A G downstream_gene_variant ESAD-UK 2 74051871 74051871 single base substitution C T upstream_gene_variant ESAD-UK 2 74052467 74052467 single base substitution C A upstream_gene_variant ESAD-UK 2 74058086 74058086 single base substitution C T missense_variant R35W 103C>T ESAD-UK 2 74068739 74068739 insertion of <=200bp - T intron_variant ESAD-UK 2 74068739 74068739 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 74069079 74069079 deletion of <=200bp T - intron_variant ESAD-UK 2 74069079 74069079 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 74071807 74071807 single base substitution G T exon_variant ESAD-UK 2 74071807 74071807 single base substitution G T intron_variant ESAD-UK 2 74072114 74072114 single base substitution C T exon_variant ESAD-UK 2 74072114 74072114 single base substitution C T intron_variant ESAD-UK 2 74072945 74072945 single base substitution G A intron_variant ESAD-UK 2 74072945 74072945 single base substitution G A upstream_gene_variant ESAD-UK 2 74074581 74074581 single base substitution G A downstream_gene_variant ESAD-UK 2 74074581 74074581 single base substitution G A exon_variant ESAD-UK 2 74074581 74074581 single base substitution G A missense_variant R148K 443G>A ESAD-UK 2 74074581 74074581 single base substitution G A upstream_gene_variant ESAD-UK 2 74076465 74076465 single base substitution G T downstream_gene_variant ESAD-UK 2 74076465 74076465 single base substitution G T intron_variant ESAD-UK 2 74076465 74076465 single base substitution G T upstream_gene_variant ESAD-UK 2 74076577 74076577 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 74076577 74076577 single base substitution G A downstream_gene_variant ESAD-UK 2 74076577 74076577 single base substitution G A exon_variant ESAD-UK 2 74076577 74076577 single base substitution G A missense_variant R277Q 830G>A ESAD-UK 2 74076577 74076577 single base substitution G A upstream_gene_variant ESAD-UK 2 74076767 74076767 single base substitution G A downstream_gene_variant ESAD-UK 2 74076767 74076767 single base substitution G A intron_variant ESAD-UK 2 74076767 74076767 single base substitution G A upstream_gene_variant ESAD-UK 2 74078942 74078942 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 74078942 74078942 deletion of <=200bp T - intron_variant ESAD-UK 2 74079893 74079893 single base substitution C T downstream_gene_variant ESAD-UK 2 74079893 74079893 single base substitution C T intron_variant ESAD-UK 2 74083194 74083194 single base substitution G T intron_variant ESAD-UK 2 74083194 74083194 single base substitution G T upstream_gene_variant ESAD-UK 2 74087113 74087113 single base substitution C T intron_variant ESAD-UK 2 74087113 74087113 single base substitution C T upstream_gene_variant ESAD-UK 2 74092294 74092294 single base substitution G C 3_prime_UTR_variant ESAD-UK 2 74092294 74092294 single base substitution G C downstream_gene_variant ESAD-UK 2 74092294 74092294 single base substitution G C intron_variant ESAD-UK 2 74093764 74093764 single base substitution T A 3_prime_UTR_variant ESAD-UK 2 74093764 74093764 single base substitution T A downstream_gene_variant ESAD-UK 2 74093764 74093764 single base substitution T A intron_variant ESAD-UK 2 74094171 74094171 single base substitution G C 3_prime_UTR_variant ESAD-UK 2 74094171 74094171 single base substitution G C downstream_gene_variant ESAD-UK 2 74094171 74094171 single base substitution G C intron_variant ESAD-UK 2 74095663 74095663 single base substitution A T downstream_gene_variant ESAD-UK 2 74095663 74095663 single base substitution A T intron_variant ESAD-UK 2 74095664 74095664 single base substitution T A downstream_gene_variant ESAD-UK 2 74095664 74095664 single base substitution T A intron_variant KIRC-US 2 74074605 74074605 single base substitution A T downstream_gene_variant KIRC-US 2 74074605 74074605 single base substitution A T exon_variant KIRC-US 2 74074605 74074605 single base substitution A T missense_variant Q156L 467A>T KIRC-US 2 74074605 74074605 single base substitution A T upstream_gene_variant KIRC-US 2 74087228 74087228 single base substitution T C exon_variant KIRC-US 2 74087228 74087228 single base substitution T C missense_variant C390R 1168T>C LICA-FR 2 74080045 74080046 deletion of <=200bp GT - downstream_gene_variant LICA-FR 2 74080045 74080046 deletion of <=200bp GT - intron_variant LICA-FR 2 74085547 74085547 single base substitution A G intron_variant LICA-FR 2 74085547 74085547 single base substitution A G upstream_gene_variant LICA-FR 2 74087240 74087240 single base substitution G T exon_variant LICA-FR 2 74087240 74087240 single base substitution G T stop_gained G394* 1180G>T LICA-FR 2 74087241 74087241 single base substitution G T exon_variant LICA-FR 2 74087241 74087241 single base substitution G T missense_variant G394V 1181G>T LICA-FR 2 74103610 74103610 single base substitution G T downstream_gene_variant LINC-JP 2 74063804 74063804 single base substitution G A intron_variant LINC-JP 2 74076577 74076577 single base substitution G A 3_prime_UTR_variant LINC-JP 2 74076577 74076577 single base substitution G A downstream_gene_variant LINC-JP 2 74076577 74076577 single base substitution G A exon_variant LINC-JP 2 74076577 74076577 single base substitution G A missense_variant R277Q 830G>A LINC-JP 2 74076577 74076577 single base substitution G A upstream_gene_variant LINC-JP 2 74083388 74083388 single base substitution A T intron_variant LINC-JP 2 74083388 74083388 single base substitution A T upstream_gene_variant LINC-JP 2 74086249 74086249 single base substitution A G intron_variant LINC-JP 2 74086249 74086249 single base substitution A G upstream_gene_variant LINC-JP 2 74101147 74101148 deletion of <=200bp TT - downstream_gene_variant LINC-JP 2 74105588 74105588 single base substitution C G downstream_gene_variant LIRI-JP 2 74052847 74052847 single base substitution C T upstream_gene_variant LIRI-JP 2 74055377 74055377 single base substitution A G upstream_gene_variant LIRI-JP 2 74056724 74056724 single base substitution A T intron_variant LIRI-JP 2 74057180 74057180 single base substitution T A intron_variant LIRI-JP 2 74062744 74062744 single base substitution A G intron_variant LIRI-JP 2 74064145 74064145 single base substitution A G intron_variant LIRI-JP 2 74065948 74065948 single base substitution A G intron_variant LIRI-JP 2 74068444 74068444 single base substitution A T intron_variant LIRI-JP 2 74068444 74068444 single base substitution A T upstream_gene_variant LIRI-JP 2 74071895 74071895 single base substitution C A exon_variant LIRI-JP 2 74071895 74071895 single base substitution C A intron_variant LIRI-JP 2 74072177 74072177 single base substitution G A intron_variant LIRI-JP 2 74072437 74072437 single base substitution G A intron_variant LIRI-JP 2 74073683 74073683 single base substitution G A intron_variant LIRI-JP 2 74073683 74073683 single base substitution G A upstream_gene_variant LIRI-JP 2 74073835 74073835 single base substitution A C intron_variant LIRI-JP 2 74073835 74073835 single base substitution A C upstream_gene_variant LIRI-JP 2 74075004 74075004 single base substitution T A downstream_gene_variant LIRI-JP 2 74075004 74075004 single base substitution T A intron_variant LIRI-JP 2 74075004 74075004 single base substitution T A upstream_gene_variant LIRI-JP 2 74075338 74075338 single base substitution A T downstream_gene_variant LIRI-JP 2 74075338 74075338 single base substitution A T intron_variant LIRI-JP 2 74075338 74075338 single base substitution A T upstream_gene_variant LIRI-JP 2 74076529 74076529 single base substitution G C downstream_gene_variant LIRI-JP 2 74076529 74076529 single base substitution G C exon_variant LIRI-JP 2 74076529 74076529 single base substitution G C missense_variant G201R 601G>C LIRI-JP 2 74076529 74076529 single base substitution G C missense_variant G261A 782G>C LIRI-JP 2 74076529 74076529 single base substitution G C upstream_gene_variant LIRI-JP 2 74076530 74076530 single base substitution G T downstream_gene_variant LIRI-JP 2 74076530 74076530 single base substitution G T exon_variant LIRI-JP 2 74076530 74076530 single base substitution G T missense_variant G201V 602G>T LIRI-JP 2 74076530 74076530 single base substitution G T synonymous_variant G261G 783G>T LIRI-JP 2 74076530 74076530 single base substitution G T upstream_gene_variant LIRI-JP 2 74079476 74079476 single base substitution A G downstream_gene_variant LIRI-JP 2 74079476 74079476 single base substitution A G intron_variant LIRI-JP 2 74079491 74079491 single base substitution C T downstream_gene_variant LIRI-JP 2 74079491 74079491 single base substitution C T intron_variant LIRI-JP 2 74079515 74079515 single base substitution T C downstream_gene_variant LIRI-JP 2 74079515 74079515 single base substitution T C intron_variant LIRI-JP 2 74082343 74082343 single base substitution C T downstream_gene_variant LIRI-JP 2 74082343 74082343 single base substitution C T intron_variant LIRI-JP 2 74082343 74082343 single base substitution C T upstream_gene_variant LIRI-JP 2 74083537 74083537 single base substitution T C intron_variant LIRI-JP 2 74083537 74083537 single base substitution T C upstream_gene_variant LIRI-JP 2 74083539 74083539 single base substitution T A intron_variant LIRI-JP 2 74083539 74083539 single base substitution T A upstream_gene_variant LIRI-JP 2 74083655 74083655 single base substitution G A intron_variant LIRI-JP 2 74083655 74083655 single base substitution G A upstream_gene_variant LIRI-JP 2 74084499 74084499 single base substitution A G intron_variant LIRI-JP 2 74084499 74084499 single base substitution A G upstream_gene_variant LIRI-JP 2 74085228 74085228 single base substitution A G intron_variant LIRI-JP 2 74085228 74085228 single base substitution A G upstream_gene_variant LIRI-JP 2 74087477 74087477 single base substitution C T intron_variant LIRI-JP 2 74089540 74089540 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 2 74089540 74089540 insertion of <=200bp - A exon_variant LIRI-JP 2 74089540 74089540 insertion of <=200bp - A intron_variant LIRI-JP 2 74094073 74094073 single base substitution C A 3_prime_UTR_variant LIRI-JP 2 74094073 74094073 single base substitution C A downstream_gene_variant LIRI-JP 2 74094073 74094073 single base substitution C A intron_variant LIRI-JP 2 74094994 74094994 single base substitution G A downstream_gene_variant LIRI-JP 2 74094994 74094994 single base substitution G A intron_variant LIRI-JP 2 74102946 74102946 single base substitution C G downstream_gene_variant LIRI-JP 2 74104092 74104092 single base substitution A T downstream_gene_variant LIRI-JP 2 74104798 74104798 single base substitution T C downstream_gene_variant LUSC-KR 2 74051234 74051234 single base substitution G C upstream_gene_variant LUSC-KR 2 74052492 74052492 single base substitution A G upstream_gene_variant LUSC-KR 2 74053971 74053971 single base substitution C A upstream_gene_variant LUSC-KR 2 74077957 74077957 single base substitution G T downstream_gene_variant LUSC-KR 2 74077957 74077957 single base substitution G T intron_variant LUSC-KR 2 74084953 74084953 single base substitution T G intron_variant LUSC-KR 2 74084953 74084953 single base substitution T G upstream_gene_variant LUSC-KR 2 74095536 74095536 single base substitution G C downstream_gene_variant LUSC-KR 2 74095536 74095536 single base substitution G C intron_variant LUSC-KR 2 74099370 74099370 single base substitution G C intron_variant LUSC-KR 2 74104162 74104162 single base substitution T C downstream_gene_variant LUSC-US 2 74074661 74074661 single base substitution G C downstream_gene_variant LUSC-US 2 74074661 74074661 single base substitution G C exon_variant LUSC-US 2 74074661 74074661 single base substitution G C missense_variant E175Q 523G>C LUSC-US 2 74074661 74074661 single base substitution G C upstream_gene_variant LUSC-US 2 74087236 74087236 single base substitution G A exon_variant LUSC-US 2 74087236 74087236 single base substitution G A synonymous_variant Q392Q 1176G>A LUSC-US 2 74089375 74089375 single base substitution G A exon_variant LUSC-US 2 74089375 74089375 single base substitution G A missense_variant D422N 1264G>A MALY-DE 2 74051406 74051406 single base substitution A G upstream_gene_variant MALY-DE 2 74052080 74052080 single base substitution C A upstream_gene_variant MALY-DE 2 74063507 74063507 single base substitution G A intron_variant MALY-DE 2 74063900 74063900 single base substitution G A intron_variant MALY-DE 2 74079756 74079756 single base substitution A C downstream_gene_variant MALY-DE 2 74079756 74079756 single base substitution A C intron_variant MALY-DE 2 74088526 74088526 single base substitution G T intron_variant MALY-DE 2 74095751 74095751 single base substitution C T downstream_gene_variant MALY-DE 2 74095751 74095751 single base substitution C T intron_variant MALY-DE 2 74098372 74098372 deletion of <=200bp A - downstream_gene_variant MALY-DE 2 74098372 74098372 deletion of <=200bp A - intron_variant MELA-AU 2 74051091 74051091 single base substitution G A upstream_gene_variant MELA-AU 2 74051101 74051101 single base substitution T G upstream_gene_variant MELA-AU 2 74051395 74051396 multiple base substitution (>=2bp and <=200bp) GA AC upstream_gene_variant MELA-AU 2 74051641 74051641 single base substitution C T upstream_gene_variant MELA-AU 2 74051917 74051917 single base substitution G A upstream_gene_variant MELA-AU 2 74051965 74051965 single base substitution G A upstream_gene_variant MELA-AU 2 74052304 74052304 single base substitution T C upstream_gene_variant MELA-AU 2 74052659 74052659 single base substitution G A upstream_gene_variant MELA-AU 2 74053334 74053334 single base substitution C T upstream_gene_variant MELA-AU 2 74053369 74053369 single base substitution C T upstream_gene_variant MELA-AU 2 74053560 74053560 single base substitution G A upstream_gene_variant MELA-AU 2 74053971 74053971 single base substitution C T upstream_gene_variant MELA-AU 2 74054023 74054023 single base substitution C T upstream_gene_variant MELA-AU 2 74054041 74054041 single base substitution C T upstream_gene_variant MELA-AU 2 74054238 74054238 single base substitution C T upstream_gene_variant MELA-AU 2 74055332 74055332 single base substitution C T upstream_gene_variant MELA-AU 2 74055421 74055421 single base substitution C T upstream_gene_variant MELA-AU 2 74055910 74055910 single base substitution C T upstream_gene_variant MELA-AU 2 74055913 74055913 single base substitution C T upstream_gene_variant MELA-AU 2 74055913 74055914 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 74055914 74055914 single base substitution C T upstream_gene_variant MELA-AU 2 74056095 74056095 single base substitution G A 5_prime_UTR_variant MELA-AU 2 74056095 74056095 single base substitution G A upstream_gene_variant MELA-AU 2 74056631 74056631 single base substitution C T 5_prime_UTR_variant MELA-AU 2 74056631 74056631 single base substitution C T intron_variant MELA-AU 2 74056888 74056888 single base substitution A G intron_variant MELA-AU 2 74057772 74057772 single base substitution C A intron_variant MELA-AU 2 74058094 74058094 single base substitution C T synonymous_variant F37F 111C>T MELA-AU 2 74058517 74058517 single base substitution A G intron_variant MELA-AU 2 74059118 74059118 single base substitution C T intron_variant MELA-AU 2 74059231 74059231 single base substitution T C intron_variant MELA-AU 2 74059237 74059237 single base substitution C T intron_variant MELA-AU 2 74059239 74059239 single base substitution C T intron_variant MELA-AU 2 74059506 74059506 single base substitution C T intron_variant MELA-AU 2 74059620 74059620 single base substitution C T intron_variant MELA-AU 2 74060691 74060691 single base substitution C T intron_variant MELA-AU 2 74061483 74061483 single base substitution T G intron_variant MELA-AU 2 74061988 74061988 single base substitution C T intron_variant MELA-AU 2 74062003 74062004 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 74062248 74062248 single base substitution C G intron_variant MELA-AU 2 74062537 74062537 single base substitution C T intron_variant MELA-AU 2 74062860 74062860 single base substitution C T intron_variant MELA-AU 2 74063405 74063405 single base substitution G A intron_variant MELA-AU 2 74063833 74063833 single base substitution C T intron_variant MELA-AU 2 74064091 74064091 single base substitution G T intron_variant MELA-AU 2 74064163 74064164 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 74064224 74064224 single base substitution C T intron_variant MELA-AU 2 74064461 74064461 single base substitution C T intron_variant MELA-AU 2 74064929 74064929 single base substitution T G intron_variant MELA-AU 2 74065410 74065410 single base substitution G A intron_variant MELA-AU 2 74065672 74065672 single base substitution C T intron_variant MELA-AU 2 74066010 74066010 single base substitution T G intron_variant MELA-AU 2 74066180 74066180 single base substitution A G intron_variant MELA-AU 2 74066350 74066350 single base substitution C T intron_variant MELA-AU 2 74067286 74067286 single base substitution C T intron_variant MELA-AU 2 74067286 74067286 single base substitution C T upstream_gene_variant MELA-AU 2 74068300 74068300 single base substitution C T intron_variant MELA-AU 2 74068300 74068300 single base substitution C T upstream_gene_variant MELA-AU 2 74068378 74068378 single base substitution G A intron_variant MELA-AU 2 74068378 74068378 single base substitution G A upstream_gene_variant MELA-AU 2 74068709 74068709 single base substitution C T intron_variant MELA-AU 2 74068709 74068709 single base substitution C T upstream_gene_variant MELA-AU 2 74068795 74068795 single base substitution G A intron_variant MELA-AU 2 74068795 74068795 single base substitution G A upstream_gene_variant MELA-AU 2 74068935 74068935 single base substitution A G intron_variant MELA-AU 2 74068935 74068935 single base substitution A G upstream_gene_variant MELA-AU 2 74068991 74068991 single base substitution G A intron_variant MELA-AU 2 74068991 74068991 single base substitution G A upstream_gene_variant MELA-AU 2 74069211 74069211 single base substitution C T intron_variant MELA-AU 2 74069211 74069211 single base substitution C T upstream_gene_variant MELA-AU 2 74069361 74069361 single base substitution C T intron_variant MELA-AU 2 74069361 74069361 single base substitution C T upstream_gene_variant MELA-AU 2 74070434 74070434 single base substitution C T intron_variant MELA-AU 2 74070434 74070434 single base substitution C T upstream_gene_variant MELA-AU 2 74070535 74070535 single base substitution A G intron_variant MELA-AU 2 74070535 74070535 single base substitution A G upstream_gene_variant MELA-AU 2 74071509 74071509 single base substitution C T intron_variant MELA-AU 2 74071509 74071509 single base substitution C T upstream_gene_variant MELA-AU 2 74071705 74071705 single base substitution C T intron_variant MELA-AU 2 74071705 74071705 single base substitution C T upstream_gene_variant MELA-AU 2 74071934 74071934 single base substitution C T exon_variant MELA-AU 2 74071934 74071934 single base substitution C T splice_region_variant MELA-AU 2 74072226 74072226 single base substitution T A intron_variant MELA-AU 2 74072268 74072268 single base substitution A C intron_variant MELA-AU 2 74073146 74073146 single base substitution G A intron_variant MELA-AU 2 74073146 74073146 single base substitution G A upstream_gene_variant MELA-AU 2 74073525 74073525 single base substitution C T intron_variant MELA-AU 2 74073525 74073525 single base substitution C T upstream_gene_variant MELA-AU 2 74074303 74074303 single base substitution C T intron_variant MELA-AU 2 74074303 74074303 single base substitution C T upstream_gene_variant MELA-AU 2 74074645 74074646 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 74074645 74074646 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 74074645 74074646 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant IR169IW MELA-AU 2 74074645 74074646 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 74074702 74074702 single base substitution A T downstream_gene_variant MELA-AU 2 74074702 74074702 single base substitution A T exon_variant MELA-AU 2 74074702 74074702 single base substitution A T splice_region_variant MELA-AU 2 74074702 74074702 single base substitution A T synonymous_variant V188V 564A>T MELA-AU 2 74074702 74074702 single base substitution A T upstream_gene_variant MELA-AU 2 74074750 74074750 single base substitution C T downstream_gene_variant MELA-AU 2 74074750 74074750 single base substitution C T exon_variant MELA-AU 2 74074750 74074750 single base substitution C T intron_variant MELA-AU 2 74074750 74074750 single base substitution C T synonymous_variant S204S 612C>T MELA-AU 2 74074750 74074750 single base substitution C T upstream_gene_variant MELA-AU 2 74074791 74074791 single base substitution C T downstream_gene_variant MELA-AU 2 74074791 74074791 single base substitution C T exon_variant MELA-AU 2 74074791 74074791 single base substitution C T intron_variant MELA-AU 2 74074791 74074791 single base substitution C T missense_variant P218L 653C>T MELA-AU 2 74074791 74074791 single base substitution C T upstream_gene_variant MELA-AU 2 74075245 74075245 single base substitution G A downstream_gene_variant MELA-AU 2 74075245 74075245 single base substitution G A intron_variant MELA-AU 2 74075245 74075245 single base substitution G A upstream_gene_variant MELA-AU 2 74075580 74075580 single base substitution C T downstream_gene_variant MELA-AU 2 74075580 74075580 single base substitution C T intron_variant MELA-AU 2 74075580 74075580 single base substitution C T upstream_gene_variant MELA-AU 2 74076332 74076332 single base substitution C T downstream_gene_variant MELA-AU 2 74076332 74076332 single base substitution C T intron_variant MELA-AU 2 74076332 74076332 single base substitution C T upstream_gene_variant MELA-AU 2 74076650 74076651 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 74076650 74076651 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 74076650 74076651 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 74077494 74077494 single base substitution C T downstream_gene_variant MELA-AU 2 74077494 74077494 single base substitution C T intron_variant MELA-AU 2 74077494 74077494 single base substitution C T upstream_gene_variant MELA-AU 2 74077552 74077552 single base substitution C T downstream_gene_variant MELA-AU 2 74077552 74077552 single base substitution C T exon_variant MELA-AU 2 74077552 74077552 single base substitution C T missense_variant A306V 917C>T MELA-AU 2 74077595 74077595 single base substitution C T downstream_gene_variant MELA-AU 2 74077595 74077595 single base substitution C T exon_variant MELA-AU 2 74077595 74077595 single base substitution C T synonymous_variant F320F 960C>T MELA-AU 2 74078004 74078004 single base substitution C T downstream_gene_variant MELA-AU 2 74078004 74078004 single base substitution C T intron_variant MELA-AU 2 74078663 74078663 single base substitution C T downstream_gene_variant MELA-AU 2 74078663 74078663 single base substitution C T intron_variant MELA-AU 2 74078750 74078750 single base substitution G A downstream_gene_variant MELA-AU 2 74078750 74078750 single base substitution G A intron_variant MELA-AU 2 74079015 74079015 single base substitution C T downstream_gene_variant MELA-AU 2 74079015 74079015 single base substitution C T intron_variant MELA-AU 2 74079793 74079793 single base substitution G A downstream_gene_variant MELA-AU 2 74079793 74079793 single base substitution G A intron_variant MELA-AU 2 74079953 74079953 single base substitution C T downstream_gene_variant MELA-AU 2 74079953 74079953 single base substitution C T intron_variant MELA-AU 2 74080367 74080367 single base substitution G A downstream_gene_variant MELA-AU 2 74080367 74080367 single base substitution G A intron_variant MELA-AU 2 74081323 74081323 single base substitution C T downstream_gene_variant MELA-AU 2 74081323 74081323 single base substitution C T intron_variant MELA-AU 2 74082145 74082145 single base substitution C T downstream_gene_variant MELA-AU 2 74082145 74082145 single base substitution C T intron_variant MELA-AU 2 74082287 74082287 single base substitution C T downstream_gene_variant MELA-AU 2 74082287 74082287 single base substitution C T intron_variant MELA-AU 2 74082287 74082287 single base substitution C T upstream_gene_variant MELA-AU 2 74082309 74082309 single base substitution C T downstream_gene_variant MELA-AU 2 74082309 74082309 single base substitution C T intron_variant MELA-AU 2 74082309 74082309 single base substitution C T upstream_gene_variant MELA-AU 2 74082450 74082450 single base substitution C T downstream_gene_variant MELA-AU 2 74082450 74082450 single base substitution C T intron_variant MELA-AU 2 74082450 74082450 single base substitution C T upstream_gene_variant MELA-AU 2 74083069 74083069 single base substitution C T intron_variant MELA-AU 2 74083069 74083069 single base substitution C T upstream_gene_variant MELA-AU 2 74083316 74083316 single base substitution G T intron_variant MELA-AU 2 74083316 74083316 single base substitution G T upstream_gene_variant MELA-AU 2 74083360 74083361 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 74083360 74083361 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 74083379 74083379 single base substitution C T intron_variant MELA-AU 2 74083379 74083379 single base substitution C T upstream_gene_variant MELA-AU 2 74083829 74083829 single base substitution C T intron_variant MELA-AU 2 74083829 74083829 single base substitution C T upstream_gene_variant MELA-AU 2 74083840 74083840 single base substitution C T intron_variant MELA-AU 2 74083840 74083840 single base substitution C T upstream_gene_variant MELA-AU 2 74084144 74084144 single base substitution C T intron_variant MELA-AU 2 74084144 74084144 single base substitution C T upstream_gene_variant MELA-AU 2 74086108 74086108 single base substitution C T intron_variant MELA-AU 2 74086108 74086108 single base substitution C T upstream_gene_variant MELA-AU 2 74086373 74086373 single base substitution C T splice_region_variant MELA-AU 2 74086373 74086373 single base substitution C T upstream_gene_variant MELA-AU 2 74086473 74086473 single base substitution T C exon_variant MELA-AU 2 74086473 74086473 single base substitution T C synonymous_variant V366V 1098T>C MELA-AU 2 74086473 74086473 single base substitution T C upstream_gene_variant MELA-AU 2 74086478 74086479 multiple base substitution (>=2bp and <=200bp) CC TG exon_variant MELA-AU 2 74086478 74086479 multiple base substitution (>=2bp and <=200bp) CC TG missense_variant S368L 1103CC>TG MELA-AU 2 74086478 74086479 multiple base substitution (>=2bp and <=200bp) CC TG upstream_gene_variant MELA-AU 2 74086688 74086688 single base substitution C T intron_variant MELA-AU 2 74086688 74086688 single base substitution C T upstream_gene_variant MELA-AU 2 74086924 74086924 single base substitution C T intron_variant MELA-AU 2 74086924 74086924 single base substitution C T upstream_gene_variant MELA-AU 2 74087507 74087507 single base substitution C T intron_variant MELA-AU 2 74087636 74087636 single base substitution C T intron_variant MELA-AU 2 74087792 74087792 single base substitution C T intron_variant MELA-AU 2 74087855 74087855 single base substitution C T intron_variant MELA-AU 2 74088252 74088252 single base substitution C T intron_variant MELA-AU 2 74088677 74088677 single base substitution C G intron_variant MELA-AU 2 74089639 74089639 single base substitution T C 3_prime_UTR_variant MELA-AU 2 74089639 74089639 single base substitution T C exon_variant MELA-AU 2 74089639 74089639 single base substitution T C intron_variant MELA-AU 2 74089689 74089689 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74089689 74089689 single base substitution C T exon_variant MELA-AU 2 74089689 74089689 single base substitution C T intron_variant MELA-AU 2 74089709 74089709 single base substitution T G 3_prime_UTR_variant MELA-AU 2 74089709 74089709 single base substitution T G exon_variant MELA-AU 2 74089709 74089709 single base substitution T G intron_variant MELA-AU 2 74089984 74089984 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74089984 74089984 single base substitution C T downstream_gene_variant MELA-AU 2 74089984 74089984 single base substitution C T intron_variant MELA-AU 2 74090245 74090245 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74090245 74090245 single base substitution C T downstream_gene_variant MELA-AU 2 74090245 74090245 single base substitution C T intron_variant MELA-AU 2 74090464 74090464 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74090464 74090464 single base substitution C T downstream_gene_variant MELA-AU 2 74090464 74090464 single base substitution C T intron_variant MELA-AU 2 74090569 74090569 single base substitution A G 3_prime_UTR_variant MELA-AU 2 74090569 74090569 single base substitution A G downstream_gene_variant MELA-AU 2 74090569 74090569 single base substitution A G intron_variant MELA-AU 2 74090802 74090802 single base substitution G T 3_prime_UTR_variant MELA-AU 2 74090802 74090802 single base substitution G T downstream_gene_variant MELA-AU 2 74090802 74090802 single base substitution G T intron_variant MELA-AU 2 74090952 74090952 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74090952 74090952 single base substitution C T downstream_gene_variant MELA-AU 2 74090952 74090952 single base substitution C T intron_variant MELA-AU 2 74091002 74091002 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74091002 74091002 single base substitution C T downstream_gene_variant MELA-AU 2 74091002 74091002 single base substitution C T intron_variant MELA-AU 2 74091289 74091289 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74091289 74091289 single base substitution C T downstream_gene_variant MELA-AU 2 74091289 74091289 single base substitution C T intron_variant MELA-AU 2 74091358 74091358 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74091358 74091358 single base substitution C T downstream_gene_variant MELA-AU 2 74091358 74091358 single base substitution C T intron_variant MELA-AU 2 74091513 74091513 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74091513 74091513 single base substitution C T downstream_gene_variant MELA-AU 2 74091513 74091513 single base substitution C T intron_variant MELA-AU 2 74092267 74092267 single base substitution G A 3_prime_UTR_variant MELA-AU 2 74092267 74092267 single base substitution G A downstream_gene_variant MELA-AU 2 74092267 74092267 single base substitution G A intron_variant MELA-AU 2 74092513 74092513 single base substitution T C 3_prime_UTR_variant MELA-AU 2 74092513 74092513 single base substitution T C downstream_gene_variant MELA-AU 2 74092513 74092513 single base substitution T C intron_variant MELA-AU 2 74092576 74092577 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 2 74092576 74092577 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 74092576 74092577 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 74092635 74092635 single base substitution G A 3_prime_UTR_variant MELA-AU 2 74092635 74092635 single base substitution G A downstream_gene_variant MELA-AU 2 74092635 74092635 single base substitution G A intron_variant MELA-AU 2 74092824 74092824 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74092824 74092824 single base substitution C T downstream_gene_variant MELA-AU 2 74092824 74092824 single base substitution C T intron_variant MELA-AU 2 74093516 74093516 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74093516 74093516 single base substitution C T downstream_gene_variant MELA-AU 2 74093516 74093516 single base substitution C T intron_variant MELA-AU 2 74093923 74093923 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74093923 74093923 single base substitution C T downstream_gene_variant MELA-AU 2 74093923 74093923 single base substitution C T intron_variant MELA-AU 2 74094034 74094034 single base substitution C T 3_prime_UTR_variant MELA-AU 2 74094034 74094034 single base substitution C T downstream_gene_variant MELA-AU 2 74094034 74094034 single base substitution C T intron_variant MELA-AU 2 74094350 74094350 single base substitution T C downstream_gene_variant MELA-AU 2 74094350 74094350 single base substitution T C intron_variant MELA-AU 2 74094996 74094996 single base substitution A G downstream_gene_variant MELA-AU 2 74094996 74094996 single base substitution A G intron_variant MELA-AU 2 74095024 74095024 single base substitution G A downstream_gene_variant MELA-AU 2 74095024 74095024 single base substitution G A intron_variant MELA-AU 2 74095676 74095676 single base substitution G A downstream_gene_variant MELA-AU 2 74095676 74095676 single base substitution G A intron_variant MELA-AU 2 74095740 74095740 single base substitution G A downstream_gene_variant MELA-AU 2 74095740 74095740 single base substitution G A intron_variant MELA-AU 2 74095917 74095918 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 74095917 74095918 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 74096370 74096370 single base substitution T C downstream_gene_variant MELA-AU 2 74096370 74096370 single base substitution T C intron_variant MELA-AU 2 74096478 74096478 single base substitution G A downstream_gene_variant MELA-AU 2 74096478 74096478 single base substitution G A intron_variant MELA-AU 2 74097032 74097032 single base substitution C T downstream_gene_variant MELA-AU 2 74097032 74097032 single base substitution C T intron_variant MELA-AU 2 74097505 74097505 single base substitution G A downstream_gene_variant MELA-AU 2 74097505 74097505 single base substitution G A intron_variant MELA-AU 2 74097775 74097775 single base substitution G A downstream_gene_variant MELA-AU 2 74097775 74097775 single base substitution G A intron_variant MELA-AU 2 74098102 74098102 single base substitution G T downstream_gene_variant MELA-AU 2 74098102 74098102 single base substitution G T intron_variant MELA-AU 2 74098612 74098612 single base substitution T C downstream_gene_variant MELA-AU 2 74098612 74098612 single base substitution T C intron_variant MELA-AU 2 74099778 74099778 single base substitution C T intron_variant MELA-AU 2 74100042 74100042 single base substitution C T intron_variant MELA-AU 2 74100045 74100045 single base substitution C T intron_variant MELA-AU 2 74100884 74100884 single base substitution C T downstream_gene_variant MELA-AU 2 74100985 74100985 single base substitution A C downstream_gene_variant MELA-AU 2 74101880 74101880 single base substitution C T downstream_gene_variant MELA-AU 2 74101910 74101910 single base substitution C T downstream_gene_variant MELA-AU 2 74102438 74102438 single base substitution C T downstream_gene_variant MELA-AU 2 74102806 74102806 single base substitution C T downstream_gene_variant MELA-AU 2 74102860 74102860 single base substitution C T downstream_gene_variant MELA-AU 2 74103260 74103260 single base substitution C T downstream_gene_variant MELA-AU 2 74103549 74103549 single base substitution C T downstream_gene_variant MELA-AU 2 74103581 74103581 single base substitution C T downstream_gene_variant MELA-AU 2 74103680 74103680 single base substitution C T downstream_gene_variant MELA-AU 2 74103690 74103690 single base substitution C T downstream_gene_variant MELA-AU 2 74104218 74104218 single base substitution C T downstream_gene_variant MELA-AU 2 74104274 74104274 single base substitution G A downstream_gene_variant MELA-AU 2 74104703 74104703 single base substitution C T downstream_gene_variant MELA-AU 2 74105051 74105051 single base substitution C T downstream_gene_variant MELA-AU 2 74105276 74105276 single base substitution C T downstream_gene_variant MELA-AU 2 74105304 74105304 single base substitution C T downstream_gene_variant MELA-AU 2 74105328 74105328 single base substitution C T downstream_gene_variant MELA-AU 2 74105448 74105448 single base substitution T C downstream_gene_variant MELA-AU 2 74105492 74105492 single base substitution G A downstream_gene_variant MELA-AU 2 74105663 74105663 single base substitution C T downstream_gene_variant ORCA-IN 2 74053785 74053785 single base substitution G C upstream_gene_variant ORCA-IN 2 74058331 74058331 single base substitution C G intron_variant OV-AU 2 74051818 74051818 single base substitution G A upstream_gene_variant OV-AU 2 74052559 74052559 single base substitution T A upstream_gene_variant OV-AU 2 74054036 74054036 single base substitution G C upstream_gene_variant OV-AU 2 74059108 74059108 single base substitution T A intron_variant OV-AU 2 74067849 74067849 single base substitution C T intron_variant OV-AU 2 74067849 74067849 single base substitution C T upstream_gene_variant OV-AU 2 74069353 74069353 single base substitution G C intron_variant OV-AU 2 74069353 74069353 single base substitution G C upstream_gene_variant OV-AU 2 74073497 74073497 single base substitution A T intron_variant OV-AU 2 74073497 74073497 single base substitution A T upstream_gene_variant OV-AU 2 74080251 74080251 single base substitution G A downstream_gene_variant OV-AU 2 74080251 74080251 single base substitution G A intron_variant OV-AU 2 74084158 74084158 single base substitution G T intron_variant OV-AU 2 74084158 74084158 single base substitution G T upstream_gene_variant OV-AU 2 74089799 74089799 single base substitution C G 3_prime_UTR_variant OV-AU 2 74089799 74089799 single base substitution C G exon_variant OV-AU 2 74089799 74089799 single base substitution C G intron_variant OV-AU 2 74095026 74095026 single base substitution T G downstream_gene_variant OV-AU 2 74095026 74095026 single base substitution T G intron_variant OV-AU 2 74097496 74097496 single base substitution G T downstream_gene_variant OV-AU 2 74097496 74097496 single base substitution G T intron_variant OV-AU 2 74097497 74097497 single base substitution A C downstream_gene_variant OV-AU 2 74097497 74097497 single base substitution A C intron_variant OV-AU 2 74097654 74097654 single base substitution C G downstream_gene_variant OV-AU 2 74097654 74097654 single base substitution C G intron_variant OV-AU 2 74100378 74100378 single base substitution C G intron_variant PACA-AU 2 74051743 74051747 deletion of <=200bp TTTTC - upstream_gene_variant PACA-AU 2 74055614 74055614 single base substitution T A upstream_gene_variant PACA-AU 2 74063923 74063923 single base substitution T G intron_variant PACA-AU 2 74070044 74070044 insertion of <=200bp - A intron_variant PACA-AU 2 74070044 74070044 insertion of <=200bp - A upstream_gene_variant PACA-AU 2 74081504 74081504 single base substitution T C downstream_gene_variant PACA-AU 2 74081504 74081504 single base substitution T C intron_variant PACA-AU 2 74083641 74083641 single base substitution G A intron_variant PACA-AU 2 74083641 74083641 single base substitution G A upstream_gene_variant PACA-AU 2 74087666 74087666 single base substitution A G exon_variant PACA-AU 2 74087666 74087666 single base substitution A G intron_variant PACA-AU 2 74092433 74092433 single base substitution T C 3_prime_UTR_variant PACA-AU 2 74092433 74092433 single base substitution T C downstream_gene_variant PACA-AU 2 74092433 74092433 single base substitution T C intron_variant PACA-AU 2 74101769 74101769 single base substitution G T downstream_gene_variant PACA-AU 2 74102024 74102024 single base substitution C G downstream_gene_variant PACA-AU 2 74103411 74103411 single base substitution C G downstream_gene_variant PACA-CA 2 74051384 74051384 single base substitution C A upstream_gene_variant PACA-CA 2 74054097 74054097 single base substitution T C upstream_gene_variant PACA-CA 2 74055736 74055736 single base substitution G A upstream_gene_variant PACA-CA 2 74060568 74060568 single base substitution G C intron_variant PACA-CA 2 74060783 74060783 single base substitution T C intron_variant PACA-CA 2 74067731 74067731 single base substitution C T intron_variant PACA-CA 2 74067731 74067731 single base substitution C T upstream_gene_variant PACA-CA 2 74071653 74071653 single base substitution T C intron_variant PACA-CA 2 74071653 74071653 single base substitution T C upstream_gene_variant PACA-CA 2 74074840 74074840 single base substitution C G downstream_gene_variant PACA-CA 2 74074840 74074840 single base substitution C G exon_variant PACA-CA 2 74074840 74074840 single base substitution C G intron_variant PACA-CA 2 74074840 74074840 single base substitution C G missense_variant D234E 702C>G PACA-CA 2 74074840 74074840 single base substitution C G upstream_gene_variant PACA-CA 2 74077334 74077334 single base substitution G T downstream_gene_variant PACA-CA 2 74077334 74077334 single base substitution G T intron_variant PACA-CA 2 74077334 74077334 single base substitution G T upstream_gene_variant PACA-CA 2 74082614 74082614 single base substitution T G intron_variant PACA-CA 2 74082614 74082614 single base substitution T G upstream_gene_variant PACA-CA 2 74087683 74087683 single base substitution G A exon_variant PACA-CA 2 74087683 74087683 single base substitution G A intron_variant PACA-CA 2 74089434 74089434 single base substitution A G 3_prime_UTR_variant PACA-CA 2 74089434 74089434 single base substitution A G exon_variant PACA-CA 2 74089434 74089434 single base substitution A G splice_region_variant PACA-CA 2 74095663 74095663 single base substitution A T downstream_gene_variant PACA-CA 2 74095663 74095663 single base substitution A T intron_variant PACA-CA 2 74096148 74096148 single base substitution G C downstream_gene_variant PACA-CA 2 74096148 74096148 single base substitution G C intron_variant PACA-CA 2 74099521 74099521 single base substitution A G intron_variant PAEN-IT 2 74071629 74071629 single base substitution G T intron_variant PAEN-IT 2 74071629 74071629 single base substitution G T upstream_gene_variant PBCA-DE 2 74059212 74059213 deletion of <=200bp AT - intron_variant PBCA-DE 2 74070544 74070547 deletion of <=200bp TATG - intron_variant PBCA-DE 2 74070544 74070547 deletion of <=200bp TATG - upstream_gene_variant PBCA-DE 2 74076802 74076802 single base substitution A T downstream_gene_variant PBCA-DE 2 74076802 74076802 single base substitution A T intron_variant PBCA-DE 2 74076802 74076802 single base substitution A T upstream_gene_variant PBCA-DE 2 74078012 74078012 single base substitution T C downstream_gene_variant PBCA-DE 2 74078012 74078012 single base substitution T C intron_variant PBCA-DE 2 74081796 74081796 single base substitution G A downstream_gene_variant PBCA-DE 2 74081796 74081796 single base substitution G A intron_variant PBCA-DE 2 74086996 74086996 single base substitution C A intron_variant PBCA-DE 2 74086996 74086996 single base substitution C A upstream_gene_variant PBCA-DE 2 74093892 74093892 single base substitution G C 3_prime_UTR_variant PBCA-DE 2 74093892 74093892 single base substitution G C downstream_gene_variant PBCA-DE 2 74093892 74093892 single base substitution G C intron_variant PBCA-DE 2 74102328 74102328 single base substitution G A downstream_gene_variant PRAD-CA 2 74059235 74059235 single base substitution T C intron_variant PRAD-CA 2 74064131 74064131 single base substitution G T intron_variant PRAD-CA 2 74104883 74104883 single base substitution A G downstream_gene_variant PRAD-UK 2 74057131 74057131 single base substitution C T intron_variant PRAD-US 2 74072296 74072296 single base substitution A G splice_region_variant RECA-EU 2 74053291 74053291 single base substitution C G upstream_gene_variant RECA-EU 2 74072415 74072415 single base substitution A C intron_variant RECA-EU 2 74084218 74084218 single base substitution T C intron_variant RECA-EU 2 74084218 74084218 single base substitution T C upstream_gene_variant SKCA-BR 2 74051091 74051091 single base substitution G A upstream_gene_variant SKCA-BR 2 74052953 74052953 single base substitution C T upstream_gene_variant SKCA-BR 2 74053996 74053996 single base substitution G A upstream_gene_variant SKCA-BR 2 74066714 74066714 single base substitution C T intron_variant SKCA-BR 2 74069297 74069297 single base substitution T G intron_variant SKCA-BR 2 74069297 74069297 single base substitution T G upstream_gene_variant SKCA-BR 2 74069337 74069337 single base substitution A T intron_variant SKCA-BR 2 74069337 74069337 single base substitution A T upstream_gene_variant SKCA-BR 2 74074208 74074208 insertion of <=200bp - CAAA intron_variant SKCA-BR 2 74074208 74074208 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 2 74074589 74074589 single base substitution C T downstream_gene_variant SKCA-BR 2 74074589 74074589 single base substitution C T exon_variant SKCA-BR 2 74074589 74074589 single base substitution C T stop_gained Q151* 451C>T SKCA-BR 2 74074589 74074589 single base substitution C T upstream_gene_variant SKCA-BR 2 74079159 74079159 single base substitution C T downstream_gene_variant SKCA-BR 2 74079159 74079159 single base substitution C T intron_variant SKCA-BR 2 74082214 74082214 single base substitution C G downstream_gene_variant SKCA-BR 2 74082214 74082214 single base substitution C G intron_variant SKCA-BR 2 74082214 74082214 single base substitution C G upstream_gene_variant SKCA-BR 2 74082722 74082722 single base substitution C T intron_variant SKCA-BR 2 74082722 74082722 single base substitution C T upstream_gene_variant SKCA-BR 2 74084800 74084800 single base substitution C T intron_variant SKCA-BR 2 74084800 74084800 single base substitution C T upstream_gene_variant SKCA-BR 2 74084817 74084817 single base substitution C T intron_variant SKCA-BR 2 74084817 74084817 single base substitution C T upstream_gene_variant SKCA-BR 2 74088813 74088813 insertion of <=200bp - ATT intron_variant SKCA-BR 2 74090567 74090567 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 74090567 74090567 single base substitution C T downstream_gene_variant SKCA-BR 2 74090567 74090567 single base substitution C T intron_variant SKCA-BR 2 74093390 74093390 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 74093390 74093390 single base substitution C T downstream_gene_variant SKCA-BR 2 74093390 74093390 single base substitution C T intron_variant SKCA-BR 2 74099069 74099069 single base substitution A T downstream_gene_variant SKCA-BR 2 74099069 74099069 single base substitution A T intron_variant SKCA-BR 2 74101217 74101217 single base substitution A T downstream_gene_variant SKCA-BR 2 74103186 74103186 single base substitution C G downstream_gene_variant SKCA-BR 2 74103487 74103487 single base substitution G A downstream_gene_variant SKCA-BR 2 74104115 74104115 single base substitution G A downstream_gene_variant SKCA-BR 2 74104442 74104442 single base substitution T A downstream_gene_variant SKCM-US 2 74058084 74058084 single base substitution G A missense_variant R34H 101G>A SKCM-US 2 74074526 74074526 single base substitution G A exon_variant SKCM-US 2 74074526 74074526 single base substitution G A missense_variant E130K 388G>A SKCM-US 2 74074526 74074526 single base substitution G A upstream_gene_variant SKCM-US 2 74077540 74077540 single base substitution C T downstream_gene_variant SKCM-US 2 74077540 74077540 single base substitution C T exon_variant SKCM-US 2 74077540 74077540 single base substitution C T missense_variant P302L 905C>T SKCM-US 2 74077595 74077595 single base substitution C T downstream_gene_variant SKCM-US 2 74077595 74077595 single base substitution C T exon_variant SKCM-US 2 74077595 74077595 single base substitution C T synonymous_variant F320F 960C>T STAD-US 2 74077571 74077571 single base substitution C T downstream_gene_variant STAD-US 2 74077571 74077571 single base substitution C T exon_variant STAD-US 2 74077571 74077571 single base substitution C T synonymous_variant N312N 936C>T STAD-US 2 74086401 74086401 single base substitution G A exon_variant STAD-US 2 74086401 74086401 single base substitution G A synonymous_variant A342A 1026G>A STAD-US 2 74086401 74086401 single base substitution G A upstream_gene_variant THCA-SA 2 74056110 74056110 single base substitution A G 5_prime_UTR_variant THCA-SA 2 74056110 74056110 single base substitution A G upstream_gene_variant THCA-SA 2 74056564 74056564 single base substitution A G 5_prime_UTR_variant THCA-SA 2 74056564 74056564 single base substitution A G intron_variant UCEC-US 2 74058130 74058130 single base substitution T G missense_variant I49M 147T>G UCEC-US 2 74071968 74071968 single base substitution C T exon_variant UCEC-US 2 74071968 74071968 single base substitution C T stop_gained R78* 232C>T UCEC-US 2 74072341 74072341 single base substitution G T exon_variant UCEC-US 2 74072341 74072341 single base substitution G T missense_variant E109D 327G>T UCEC-US 2 74074753 74074753 single base substitution A G downstream_gene_variant UCEC-US 2 74074753 74074753 single base substitution A G exon_variant UCEC-US 2 74074753 74074753 single base substitution A G intron_variant UCEC-US 2 74074753 74074753 single base substitution A G synonymous_variant L205L 615A>G UCEC-US 2 74074753 74074753 single base substitution A G upstream_gene_variant UCEC-US 2 74076600 74076600 single base substitution C A 3_prime_UTR_variant UCEC-US 2 74076600 74076600 single base substitution C A downstream_gene_variant UCEC-US 2 74076600 74076600 single base substitution C A missense_variant L285I 853C>A UCEC-US 2 74076600 74076600 single base substitution C A upstream_gene_variant UCEC-US 2 74077533 74077533 single base substitution C A downstream_gene_variant UCEC-US 2 74077533 74077533 single base substitution C A exon_variant UCEC-US 2 74077533 74077533 single base substitution C A missense_variant L300I 898C>A UCEC-US 2 74089382 74089382 single base substitution G A exon_variant UCEC-US 2 74089382 74089382 single base substitution G A missense_variant R424Q 1271G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC798T COSM4950648 c.1181G>T p.G394V Substitution - Missense 2:73860114-73860114 + BZ29 COSM3728334 c.509G>A p.R170Q Substitution - Missense 2:73847520-73847520 + TCGA-D1-A17A-01 COSM1022880 c.615A>G p.L205L Substitution - coding silent 2:73847626-73847626 + HCC100T COSM1615096 c.830G>A p.R277Q Substitution - Missense 2:73849450-73849450 + P51 COSM328704 c.1193A>T p.H398L Substitution - Missense 2:73860126-73860126 + NCI-H23 COSM1196480 c.577G>C p.G193R Substitution - Missense 2:73847588-73847588 + TCGA-EB-A41B-01 COSM3583237 c.905C>T p.P302L Substitution - Missense 2:73850413-73850413 + BK0032 COSM4186912 c.1039G>A p.V347I Substitution - Missense 2:73859287-73859287 + RKO COSM2998842 c.398C>T p.A133V Substitution - Missense 2:73847409-73847409 + 107529 COSM96218 c.1068G>A p.Q356Q Substitution - coding silent 2:73859316-73859316 + TARGET-30-PAPVFD COSM1288230 c.1083G>A p.E361E Substitution - coding silent 2:73859331-73859331 + H23 COSM1196480 c.577G>C p.G193R Substitution - Missense 2:73847588-73847588 + BL42 COSM3728334 c.509G>A p.R170Q Substitution - Missense 2:73847520-73847520 + TCGA-G4-6628-01 COSM1409460 c.337C>T p.R113* Substitution - Nonsense 2:73845224-73845224 + TCGA-FW-A3I3-06 COSM3583236 c.101G>A p.R34H Substitution - Missense 2:73830957-73830957 + CHC798T COSM4950732 c.1180G>T p.G394* Substitution - Nonsense 2:73860113-73860113 + TCGA-AA-A010-01 COSM285407 c.1128C>A p.F376L Substitution - Missense 2:73860061-73860061 + TCGA-22-5473-01 COSM722557 c.1176G>A p.Q392Q Substitution - coding silent 2:73860109-73860109 + TCGA-CJ-4868-01 COSM3364826 c.467A>T p.Q156L Substitution - Missense 2:73847478-73847478 + TCGA-AX-A0J0-01 COSM1022882 c.898C>A p.L300I Substitution - Missense 2:73850406-73850406 + ESCC_68 COSM5633936 c.43G>T p.V15L Substitution - Missense 2:73830899-73830899 + 2218465 COSM4421349 c.763C>T p.R255C Substitution - Missense 2:73849383-73849383 + TCGA-B5-A11N-01 COSM1022878 c.232C>T p.R78* Substitution - Nonsense 2:73844841-73844841 + TCGA-EE-A20C-06 COSM3583238 c.960C>T p.F320F Substitution - coding silent 2:73850468-73850468 + TCGA-AD-6889-01 COSM1409461 c.488A>G p.H163R Substitution - Missense 2:73847499-73847499 + 9227_T COSM5039326 c.867+1G>A p.? Unknown 2:73849488-73849488 + TCGA-E9-A3X8-01 COSM3840013 c.312A>C p.E104D Substitution - Missense 2:73845199-73845199 + BD87T COSM5505129 c.375+9A>G p.? Unknown 2:73845271-73845271 + TCGA-A5-A0GE-01 COSM1022884 c.1271G>A p.R424Q Substitution - Missense 2:73862255-73862255 + HCC100 COSM1615096 c.830G>A p.R277Q Substitution - Missense 2:73849450-73849450 + TCGA-13-1492-01 COSM72819 c.764G>A p.R255H Substitution - Missense 2:73849384-73849384 + TCGA-AP-A051-01 COSM1022879 c.327G>T p.E109D Substitution - Missense 2:73845214-73845214 + TCGA-CM-6679-01 COSM1409463 c.1092C>T p.A364A Substitution - coding silent 2:73859340-73859340 + HCT15 COSM2998844 c.516G>T p.Q172H Substitution - Missense 2:73847527-73847527 + 1409_T COSM3963070 c.1201G>C p.D401H Substitution - Missense 2:73860134-73860134 + ESCC_122 COSM5640698 c.245C>G p.S82C Substitution - Missense 2:73844854-73844854 + 169 COSM1615097 c.867+9delA p.? Unknown 2:73849496-73849496 + STC232 COSM4421349 c.763C>T p.R255C Substitution - Missense 2:73849383-73849383 + S1_post COSM5574996 c.1087G>A p.V363I Substitution - Missense 2:73859335-73859335 + C658 COSM4443410 c.549G>T p.Q183H Substitution - Missense 2:73847560-73847560 + CSCC-16-T COSM3583238 c.960C>T p.F320F Substitution - coding silent 2:73850468-73850468 + DLD1 COSM2998844 c.516G>T p.Q172H Substitution - Missense 2:73847527-73847527 + Pa04C COSM84601 c.468A>T p.Q156H Substitution - Missense 2:73847479-73847479 + ASHPC_0003_Pa_P_2 COSM3785318 c.702C>G p.D234E Substitution - Missense 2:73847713-73847713 + TCGA-OL-A5RU-01 COSM5834487 c.668delC p.T223fs*3 Deletion - Frameshift 2:73847679-73847679 + TCGA-F1-A448-01 COSM4095684 c.1026G>A p.A342A Substitution - coding silent 2:73859274-73859274 + TCGA-DI-A0WH-01 COSM1022883 c.1115A>G p.Q372R Substitution - Missense 2:73859363-73859363 + CHC798T COSM4950732 c.1180G>T p.G394* Substitution - Nonsense 2:73860113-73860113 + TCGA-CH-5788-01 COSM1130744 c.282A>G p.K94K Substitution - coding silent 2:73845169-73845169 + HCT8 COSM2998844 c.516G>T p.Q172H Substitution - Missense 2:73847527-73847527 + TCGA-CM-4750-01 COSM3695601 c.794C>A p.P265Q Substitution - Missense 2:73849414-73849414 + TCGA-A2-A0CK-01 COSM3840014 c.711G>A p.L237L Substitution - coding silent 2:73847722-73847722 + ccRCC-15 COSM1664371 c.734C>G p.S245* Substitution - Nonsense 2:73847745-73847745 + 3N40-VS-3T40 COSM4981659 c.1041C>T p.V347V Substitution - coding silent 2:73859289-73859289 + BD30T COSM5509054 c.195G>C p.K65N Substitution - Missense 2:73831051-73831051 + TCGA-FJ-A3ZF-01 COSM3799185 c.673G>T p.V225L Substitution - Missense 2:73847684-73847684 + 60 COSM5010827 c.559A>T p.K187* Substitution - Nonsense 2:73847570-73847570 + TCGA-A8-A09Q-01 COSM443200 c.103C>T p.R35W Substitution - Missense 2:73830959-73830959 + YUKAT COSM5397394 c.132C>T p.I44I Substitution - coding silent 2:73830988-73830988 + T4 COSM5619287 c.12T>C p.H4H Substitution - coding silent 2:73830868-73830868 + LP6005334-DNA_E01 COSM4412523 c.443G>A p.R148K Substitution - Missense 2:73847454-73847454 + SS6003149 COSM1615096 c.830G>A p.R277Q Substitution - Missense 2:73849450-73849450 + YUKIL COSM1690705 c.1103_1104CC>TT p.S368F Substitution - Missense 2:73859351-73859352 + TCGA-EE-A3J7-06 COSM3910643 c.388G>A p.E130K Substitution - Missense 2:73847399-73847399 + 102022 COSM95281 c.79G>A p.V27M Substitution - Missense 2:73830935-73830935 + RK128_C01 COSM3739917 c.783G>T p.G261G Substitution - coding silent 2:73849403-73849403 + RK128_C01 COSM3739916 c.782G>C p.G261A Substitution - Missense 2:73849402-73849402 + RW7213 COSM4649999 c.958T>C p.F320L Substitution - Missense 2:73850466-73850466 + TCGA-BS-A0TC-01 COSM1022881 c.853C>A p.L285I Substitution - Missense 2:73849473-73849473 + Au4 COSM5605019 c.653C>T p.P218L Substitution - Missense 2:73847664-73847664 + TCGA-22-4613-01 COSM722556 c.1264G>A p.D422N Substitution - Missense 2:73862248-73862248 + ME018T COSM225152 c.949G>A p.E317K Substitution - Missense 2:73850457-73850457 + TCGA-B5-A0JY-01 COSM1022876 c.147T>G p.I49M Substitution - Missense 2:73831003-73831003 + BN24T COSM1615097 c.867+9delA p.? Unknown 2:73849496-73849496 + TCGA-EE-A3JI-06 COSM3583238 c.960C>T p.F320F Substitution - coding silent 2:73850468-73850468 + TCGA-24-1850-01 COSM1326965 c.203+1G>T p.? Unknown 2:73831060-73831060 + CHC798T COSM4950648 c.1181G>T p.G394V Substitution - Missense 2:73860114-73860114 + TCGA-AK-3436-01 COSM1136728 c.1168T>C p.C390R Substitution - Missense 2:73860101-73860101 + TCGA-60-2720-01 COSM722558 c.523G>C p.E175Q Substitution - Missense 2:73847534-73847534 + TCGA-D1-A174-01 COSM1022877 c.203C>T p.T68M Substitution - Missense 2:73831059-73831059 + Case5 COSM1579411 c.945C>G p.N315K Substitution - Missense 2:73850453-73850453 + TCGA-D7-8579-01 COSM4095683 c.936C>T p.N312N Substitution - coding silent 2:73850444-73850444 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.469018 2p13.1 606247 2425787|dbSNP|BC007682|A/G|non-coding||1558|Confirmed; 2425787|dbSNP|BC065574|A/G|non-coding||2045|Confirmed

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.K94K c.282A>G 2 74072296 PRAD A G Synonymous p.L205L c.615A>G 2 74074753 UCEC A T Missense p.Q156H c.468A>T 2 74074606 PAAD A T Missense p.Q156L c.467A>T 2 74074605 RCCC C A Missense p.L285I c.853C>A 2 74076600 UCEC C T Missense p.R35W c.103C>T 2 74058086 BRCA C T Missense p.S82F c.245C>T 2 74071981 CM C T Synonymous p.F320F c.960C>T 2 74077595 CM G A IntronicSNV . c.376-39G>A 2 74074475 NSCLC G A Missense p.D422N c.1264G>A 2 74089375 LUSC G A Missense p.E130K c.388G>A 2 74074526 CM G A Missense p.E317K c.949G>A 2 74077584 CM G A Missense p.E373K c.1117G>A 2 74086492 CM G A Missense p.R34H c.101G>A 2 74058084 CM G A Missense p.R424Q c.1271G>A 2 74089382 HNSC G A Missense p.R424Q c.1271G>A 2 74089382 UCEC G A Synonymous p.E361E c.1083G>A 2 74086458 NB G A Synonymous p.Q392Q c.1176G>A 2 74087236 LUSC G C Missense p.E175Q c.523G>C 2 74074661 LUSC G C Missense p.K126N c.378G>C 2 74074516 HNSC T C Missense p.C390R c.1168T>C 2 74087228 RCCC