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 15 44120407 44120407 + Missense_Mutation SNP C C G TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr15:44120407C>G c.305C>G c.(304-306)tCt>tGt p.S102C BLCA 15 44120502 44120502 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr15:44120502C>T c.400C>T c.(400-402)Ctc>Ttc p.L134F BLCA 15 44127283 44127283 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr15:44127283G>A c.487G>A c.(487-489)Gaa>Aaa p.E163K BLCA 15 44127308 44127308 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr15:44127308C>T c.512C>T c.(511-513)tCa>tTa p.S171L BLCA 15 44149182 44149182 + Silent SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr15:44149182C>T c.1230C>T c.(1228-1230)gaC>gaT p.D410D BLCA 15 44149265 44149265 + Missense_Mutation SNP C C A TCGA-XF-A9SL-01A-11D-A391-08 TCGA-XF-A9SL-10A-01D-A394-08 g.chr15:44149265C>A c.1313C>A c.(1312-1314)aCt>aAt p.T438N BLCA 15 44149340 44149340 + Missense_Mutation SNP A A G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr15:44149340A>G c.1388A>G c.(1387-1389)tAt>tGt p.Y463C BRCA 15 44119242 44119242 + Silent SNP G G T TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 g.chr15:44119242G>T c.12G>T c.(10-12)tcG>tcT p.S4S BRCA 15 44134845 44134845 + Missense_Mutation SNP A A C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 g.chr15:44134845A>C c.854A>C c.(853-855)gAg>gCg p.E285A BRCA 15 44149275 44149275 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr15:44149275G>T c.1323G>T c.(1321-1323)gaG>gaT p.E441D BRCA 15 44149283 44149283 + Missense_Mutation SNP C C A TCGA-BH-A0E6-01A-11W-A050-09 TCGA-BH-A0E6-10A-01W-A055-09 g.chr15:44149283C>A c.1331C>A c.(1330-1332)aCc>aAc p.T444N BRCA 15 44150962 44150962 + Silent SNP C C T TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr15:44150962C>T c.1503C>T c.(1501-1503)gcC>gcT p.A501A BRCA 15 44158455 44158455 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr15:44158455G>C c.1746G>C c.(1744-1746)aaG>aaC p.K582N BRCA 15 44158472 44158472 + Missense_Mutation SNP G G T TCGA-EW-A1P6-01A-11D-A142-09 TCGA-EW-A1P6-10A-01D-A142-09 g.chr15:44158472G>T c.1763G>T c.(1762-1764)gGt>gTt p.G588V CESC 15 44120326 44120326 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr15:44120326C>G c.224C>G c.(223-225)tCt>tGt p.S75C CESC 15 44120351 44120351 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr15:44120351G>T c.249G>T c.(247-249)aaG>aaT p.K83N COAD 15 44131850 44131850 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr15:44131850G>A c.656G>A c.(655-657)cGa>cAa p.R219Q COAD 15 44136210 44136210 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr15:44136210A>G c.990A>G c.(988-990)gtA>gtG p.V330V COAD 15 44143409 44143409 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr15:44143409G>A c.1157G>A c.(1156-1158)cGc>cAc p.R386H COADREAD 15 44131850 44131850 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr15:44131850G>A c.656G>A c.(655-657)cGa>cAa p.R219Q COADREAD 15 44136210 44136210 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr15:44136210A>G c.990A>G c.(988-990)gtA>gtG p.V330V COADREAD 15 44143409 44143409 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr15:44143409G>A c.1157G>A c.(1156-1158)cGc>cAc p.R386H ESCA 15 44158510 44158510 + Missense_Mutation SNP A A C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr15:44158510A>C c.1801A>C c.(1801-1803)Atg>Ctg p.M601L GBM 15 44150913 44150913 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 g.chr15:44150913G>A c.1454G>A c.(1453-1455)aGt>aAt p.S485N GBMLGG 15 44150878 44150878 + Missense_Mutation SNP T T G TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 g.chr15:44150878T>G c.1419T>G c.(1417-1419)caT>caG p.H473Q GBMLGG 15 44150913 44150913 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 g.chr15:44150913G>A c.1454G>A c.(1453-1455)aGt>aAt p.S485N HNSC 15 44134857 44134857 + Missense_Mutation SNP C C G TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 g.chr15:44134857C>G c.866C>G c.(865-867)tCt>tGt p.S289C HNSC 15 44143363 44143363 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 g.chr15:44143363G>A c.1111G>A c.(1111-1113)Gcc>Acc p.A371T HNSC 15 44158387 44158387 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 g.chr15:44158387G>A c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K KIPAN 15 44136119 44136119 + Missense_Mutation SNP G G T TCGA-BP-4768-01A-01D-1366-10 TCGA-BP-4768-11A-01D-1366-10 g.chr15:44136119G>T c.899G>T c.(898-900)gGc>gTc p.G300V KIRC 15 44136119 44136119 + Missense_Mutation SNP G G T TCGA-BP-4768-01A-01D-1366-10 TCGA-BP-4768-11A-01D-1366-10 g.chr15:44136119G>T c.899G>T c.(898-900)gGc>gTc p.G300V LGG 15 44150878 44150878 + Missense_Mutation SNP T T G TCGA-DU-A6S3-01A-12D-A32B-08 TCGA-DU-A6S3-10A-01D-A329-08 g.chr15:44150878T>G c.1419T>G c.(1417-1419)caT>caG p.H473Q LIHC 15 44120478 44120478 + Nonsense_Mutation SNP A A T TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr15:44120478A>T c.376A>T c.(376-378)Aag>Tag p.K126* LIHC 15 44158353 44158353 + Silent SNP G G T TCGA-CC-A7IG-01A-11D-A33K-10 TCGA-CC-A7IG-10A-01D-A33K-10 g.chr15:44158353G>T c.1644G>T c.(1642-1644)ctG>ctT p.L548L LIHC 15 44158449 44158449 + Silent SNP A A C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr15:44158449A>C c.1740A>C c.(1738-1740)acA>acC p.T580T LUAD 15 44158515 44158515 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 g.chr15:44158515C>T c.1806C>T c.(1804-1806)caC>caT p.H602H LUSC 15 44143306 44143306 + Nonsense_Mutation SNP G G T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr15:44143306G>T c.1054G>T c.(1054-1056)Gga>Tga p.G352* LUSC 15 44149268 44149268 + Missense_Mutation SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr15:44149268C>T c.1316C>T c.(1315-1317)tCt>tTt p.S439F PRAD 15 44149354 44149354 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr15:44149354G>A c.1402G>A c.(1402-1404)Gga>Aga p.G468R PRAD 15 44150892 44150892 + Missense_Mutation SNP G G A TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 g.chr15:44150892G>A c.1433G>A c.(1432-1434)aGg>aAg p.R478K SARC 15 44158334 44158334 + Missense_Mutation SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 g.chr15:44158334C>T c.1625C>T c.(1624-1626)aCt>aTt p.T542I SKCM 15 44120337 44120337 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr15:44120337G>A c.235G>A c.(235-237)Gtg>Atg p.V79M SKCM 15 44127344 44127344 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr15:44127344C>A c.548C>A c.(547-549)tCt>tAt p.S183Y SKCM 15 44150935 44150935 + Silent SNP T T C TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr15:44150935T>C c.1476T>C c.(1474-1476)acT>acC p.T492T SKCM 15 44153570 44153570 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr15:44153570C>T c.1602C>T c.(1600-1602)ctC>ctT p.L534L SKCM 15 44158466 44158466 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr15:44158466C>T c.1757C>T c.(1756-1758)tCg>tTg p.S586L

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 15 44127283 44127283 single base substitution G A missense_variant E163K 487G>A BLCA-US 15 44127283 44127283 single base substitution G A missense_variant E99K 295G>A BLCA-US 15 44149340 44149340 single base substitution A G missense_variant Y399C 1196A>G BLCA-US 15 44149340 44149340 single base substitution A G missense_variant Y463C 1388A>G BLCA-US 15 44149340 44149340 single base substitution A G upstream_gene_variant BOCA-FR 15 44139258 44139258 single base substitution G T downstream_gene_variant BOCA-FR 15 44139258 44139258 single base substitution G T intron_variant BRCA-EU 15 44114325 44114325 single base substitution C T upstream_gene_variant BRCA-EU 15 44115418 44115418 single base substitution A T upstream_gene_variant BRCA-EU 15 44115899 44115899 single base substitution C A upstream_gene_variant BRCA-EU 15 44120946 44120946 single base substitution C T intron_variant BRCA-EU 15 44124038 44124038 single base substitution T G intron_variant BRCA-EU 15 44124166 44124166 single base substitution C G intron_variant BRCA-EU 15 44126092 44126092 single base substitution C G intron_variant BRCA-EU 15 44127337 44127337 single base substitution C T stop_gained Q117* 349C>T BRCA-EU 15 44127337 44127337 single base substitution C T stop_gained Q181* 541C>T BRCA-EU 15 44128051 44128051 single base substitution C T intron_variant BRCA-EU 15 44128338 44128338 single base substitution C G intron_variant BRCA-EU 15 44128557 44128557 single base substitution G A intron_variant BRCA-EU 15 44128574 44128574 single base substitution T C intron_variant BRCA-EU 15 44131594 44131594 single base substitution T G intron_variant BRCA-EU 15 44134382 44134382 single base substitution C G intron_variant BRCA-EU 15 44136153 44136153 single base substitution T G downstream_gene_variant BRCA-EU 15 44136153 44136153 single base substitution T G synonymous_variant V247V 741T>G BRCA-EU 15 44136153 44136153 single base substitution T G synonymous_variant V311V 933T>G BRCA-EU 15 44136818 44136818 single base substitution A T downstream_gene_variant BRCA-EU 15 44136818 44136818 single base substitution A T intron_variant BRCA-EU 15 44136826 44136826 single base substitution G A downstream_gene_variant BRCA-EU 15 44136826 44136826 single base substitution G A intron_variant BRCA-EU 15 44136827 44136827 single base substitution G A downstream_gene_variant BRCA-EU 15 44136827 44136827 single base substitution G A intron_variant BRCA-EU 15 44141115 44141115 single base substitution G A intron_variant BRCA-EU 15 44144017 44144017 single base substitution C T intron_variant BRCA-EU 15 44144240 44144240 single base substitution G C intron_variant BRCA-EU 15 44144498 44144498 single base substitution C T intron_variant BRCA-EU 15 44147933 44147933 single base substitution G T intron_variant BRCA-EU 15 44147933 44147933 single base substitution G T upstream_gene_variant BRCA-EU 15 44149445 44149445 single base substitution T A intron_variant BRCA-EU 15 44149445 44149445 single base substitution T A upstream_gene_variant BRCA-EU 15 44149447 44149447 single base substitution C G intron_variant BRCA-EU 15 44149447 44149447 single base substitution C G upstream_gene_variant BRCA-EU 15 44150400 44150400 single base substitution A T intron_variant BRCA-EU 15 44150400 44150400 single base substitution A T upstream_gene_variant BRCA-EU 15 44150936 44150936 single base substitution G A exon_variant BRCA-EU 15 44150936 44150936 single base substitution G A missense_variant E429K 1285G>A BRCA-EU 15 44150936 44150936 single base substitution G A missense_variant E493K 1477G>A BRCA-EU 15 44151596 44151596 single base substitution C T intron_variant BRCA-EU 15 44151746 44151746 single base substitution G A intron_variant BRCA-EU 15 44153422 44153422 single base substitution G T intron_variant BRCA-EU 15 44154614 44154614 single base substitution C G intron_variant BRCA-EU 15 44154955 44154955 single base substitution C T intron_variant BRCA-EU 15 44155404 44155404 single base substitution G A intron_variant BRCA-EU 15 44157559 44157559 single base substitution C T intron_variant BRCA-EU 15 44158577 44158577 insertion of <=200bp - A exon_variant BRCA-EU 15 44158577 44158577 insertion of <=200bp - A frameshift_variant E559E? BRCA-EU 15 44158577 44158577 insertion of <=200bp - A frameshift_variant E623E? BRCA-EU 15 44158874 44158874 single base substitution G C 3_prime_UTR_variant BRCA-EU 15 44158874 44158874 single base substitution G C exon_variant BRCA-EU 15 44159572 44159572 single base substitution G C 3_prime_UTR_variant BRCA-EU 15 44159572 44159572 single base substitution G C downstream_gene_variant BRCA-EU 15 44159587 44159587 single base substitution C G 3_prime_UTR_variant BRCA-EU 15 44159587 44159587 single base substitution C G downstream_gene_variant BRCA-EU 15 44161722 44161722 single base substitution G A downstream_gene_variant BRCA-EU 15 44161816 44161816 single base substitution C A downstream_gene_variant BRCA-EU 15 44162547 44162547 single base substitution G A downstream_gene_variant BRCA-EU 15 44162705 44162705 single base substitution C A downstream_gene_variant BRCA-EU 15 44164895 44164895 single base substitution A G downstream_gene_variant BRCA-EU 15 44164979 44164979 single base substitution G C downstream_gene_variant BRCA-FR 15 44119003 44119003 single base substitution T C upstream_gene_variant BRCA-FR 15 44120946 44120946 single base substitution C T intron_variant BRCA-FR 15 44134382 44134382 single base substitution C G intron_variant BRCA-FR 15 44136153 44136153 single base substitution T G downstream_gene_variant BRCA-FR 15 44136153 44136153 single base substitution T G synonymous_variant V247V 741T>G BRCA-FR 15 44136153 44136153 single base substitution T G synonymous_variant V311V 933T>G BRCA-FR 15 44144498 44144498 single base substitution C T intron_variant BRCA-FR 15 44146526 44146526 single base substitution C T intron_variant BRCA-FR 15 44146526 44146526 single base substitution C T upstream_gene_variant BRCA-FR 15 44155404 44155404 single base substitution G A intron_variant BRCA-FR 15 44159587 44159587 single base substitution C G 3_prime_UTR_variant BRCA-FR 15 44159587 44159587 single base substitution C G downstream_gene_variant BRCA-FR 15 44161722 44161722 single base substitution G A downstream_gene_variant BRCA-FR 15 44161816 44161816 single base substitution C A downstream_gene_variant BRCA-UK 15 44118818 44118818 single base substitution G A upstream_gene_variant BRCA-UK 15 44150906 44150908 deletion of <=200bp AGG - exon_variant BRCA-UK 15 44150906 44150908 deletion of <=200bp AGG - inframe_deletion R419 BRCA-UK 15 44150906 44150908 deletion of <=200bp AGG - inframe_deletion R483 BRCA-US 15 44119242 44119242 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 15 44119242 44119242 single base substitution G T synonymous_variant S4S 12G>T BRCA-US 15 44134845 44134845 single base substitution A C missense_variant E221A 662A>C BRCA-US 15 44134845 44134845 single base substitution A C missense_variant E285A 854A>C BRCA-US 15 44149275 44149275 single base substitution G T missense_variant E377D 1131G>T BRCA-US 15 44149275 44149275 single base substitution G T missense_variant E441D 1323G>T BRCA-US 15 44149275 44149275 single base substitution G T upstream_gene_variant BRCA-US 15 44149283 44149283 single base substitution C A missense_variant T380N 1139C>A BRCA-US 15 44149283 44149283 single base substitution C A missense_variant T444N 1331C>A BRCA-US 15 44149283 44149283 single base substitution C A upstream_gene_variant BRCA-US 15 44150962 44150962 single base substitution C T exon_variant BRCA-US 15 44150962 44150962 single base substitution C T synonymous_variant A437A 1311C>T BRCA-US 15 44150962 44150962 single base substitution C T synonymous_variant A501A 1503C>T BRCA-US 15 44158455 44158455 single base substitution G C exon_variant BRCA-US 15 44158455 44158455 single base substitution G C missense_variant K518N 1554G>C BRCA-US 15 44158455 44158455 single base substitution G C missense_variant K582N 1746G>C BRCA-US 15 44158472 44158472 single base substitution G T exon_variant BRCA-US 15 44158472 44158472 single base substitution G T missense_variant G524V 1571G>T BRCA-US 15 44158472 44158472 single base substitution G T missense_variant G588V 1763G>T BTCA-JP 15 44143354 44143354 single base substitution T G missense_variant F304V 910T>G BTCA-JP 15 44143354 44143354 single base substitution T G missense_variant F368V 1102T>G BTCA-JP 15 44165284 44165284 deletion of <=200bp A - downstream_gene_variant BTCA-JP 15 44165546 44165546 single base substitution C A downstream_gene_variant CESC-US 15 44120326 44120326 single base substitution C G missense_variant S11C 32C>G CESC-US 15 44120326 44120326 single base substitution C G missense_variant S75C 224C>G CESC-US 15 44120351 44120351 single base substitution G T missense_variant K19N 57G>T CESC-US 15 44120351 44120351 single base substitution G T missense_variant K83N 249G>T CLLE-ES 15 44154810 44154810 single base substitution C G intron_variant COAD-US 15 44116732 44116732 single base substitution G C upstream_gene_variant COAD-US 15 44120559 44120559 single base substitution T G missense_variant S153A 457T>G COAD-US 15 44120559 44120559 single base substitution T G missense_variant S89A 265T>G COAD-US 15 44136210 44136210 single base substitution A G downstream_gene_variant COAD-US 15 44136210 44136210 single base substitution A G synonymous_variant V266V 798A>G COAD-US 15 44136210 44136210 single base substitution A G synonymous_variant V330V 990A>G COCA-CN 15 44116734 44116734 single base substitution G A upstream_gene_variant COCA-CN 15 44116805 44116805 single base substitution A C upstream_gene_variant COCA-CN 15 44120176 44120176 single base substitution A C 5_prime_UTR_variant COCA-CN 15 44120176 44120176 single base substitution A C intron_variant COCA-CN 15 44120176 44120176 single base substitution A C missense_variant K25T 74A>C COCA-CN 15 44136142 44136142 single base substitution G A downstream_gene_variant COCA-CN 15 44136142 44136142 single base substitution G A missense_variant V244I 730G>A COCA-CN 15 44136142 44136142 single base substitution G A missense_variant V308I 922G>A COCA-CN 15 44149077 44149077 single base substitution G T intron_variant COCA-CN 15 44149077 44149077 single base substitution G T upstream_gene_variant COCA-CN 15 44158266 44158266 single base substitution G A intron_variant EOPC-DE 15 44136406 44136406 single base substitution A G downstream_gene_variant EOPC-DE 15 44136406 44136406 single base substitution A G intron_variant ESAD-UK 15 44115303 44115303 single base substitution G A upstream_gene_variant ESAD-UK 15 44117127 44117127 single base substitution T G upstream_gene_variant ESAD-UK 15 44117618 44117618 single base substitution G A upstream_gene_variant ESAD-UK 15 44124636 44124636 single base substitution T C intron_variant ESAD-UK 15 44125308 44125308 single base substitution T G intron_variant ESAD-UK 15 44129940 44129940 single base substitution C G intron_variant ESAD-UK 15 44130979 44130979 single base substitution T C intron_variant ESAD-UK 15 44142195 44142195 single base substitution T G intron_variant ESAD-UK 15 44142384 44142384 single base substitution A G intron_variant ESAD-UK 15 44142908 44142908 single base substitution A C intron_variant ESAD-UK 15 44143891 44143891 single base substitution G T intron_variant ESAD-UK 15 44144103 44144103 deletion of <=200bp A - intron_variant ESAD-UK 15 44144729 44144729 single base substitution C G intron_variant ESAD-UK 15 44147008 44147008 single base substitution C T intron_variant ESAD-UK 15 44147008 44147008 single base substitution C T upstream_gene_variant ESAD-UK 15 44153317 44153317 single base substitution G A intron_variant ESAD-UK 15 44154697 44154697 single base substitution T G intron_variant ESAD-UK 15 44156663 44156663 single base substitution T G intron_variant ESAD-UK 15 44156666 44156666 single base substitution C A intron_variant ESAD-UK 15 44164352 44164352 single base substitution G A downstream_gene_variant ESCA-CN 15 44143408 44143408 single base substitution C T missense_variant R322C 964C>T ESCA-CN 15 44143408 44143408 single base substitution C T missense_variant R386C 1156C>T ESCA-CN 15 44150697 44150697 single base substitution A G intron_variant ESCA-CN 15 44150697 44150697 single base substitution A G upstream_gene_variant GBM-US 15 44150913 44150913 single base substitution G A exon_variant GBM-US 15 44150913 44150913 single base substitution G A missense_variant S421N 1262G>A GBM-US 15 44150913 44150913 single base substitution G A missense_variant S485N 1454G>A KIRC-US 15 44136119 44136119 single base substitution G T downstream_gene_variant KIRC-US 15 44136119 44136119 single base substitution G T missense_variant G236V 707G>T KIRC-US 15 44136119 44136119 single base substitution G T missense_variant G300V 899G>T LAML-KR 15 44116601 44116601 single base substitution T G upstream_gene_variant LAML-KR 15 44131623 44131623 single base substitution G C intron_variant LICA-CN 15 44119242 44119242 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LICA-CN 15 44119242 44119242 single base substitution G T synonymous_variant S4S 12G>T LICA-FR 15 44116323 44116323 single base substitution T C upstream_gene_variant LICA-FR 15 44127859 44127859 deletion of <=200bp T - intron_variant LICA-FR 15 44132612 44132612 single base substitution G A intron_variant LICA-FR 15 44134416 44134416 single base substitution A C intron_variant LICA-FR 15 44154456 44154456 single base substitution G T intron_variant LICA-FR 15 44158821 44158821 deletion of <=200bp T - 3_prime_UTR_variant LICA-FR 15 44158821 44158821 deletion of <=200bp T - exon_variant LICA-FR 15 44160909 44160909 single base substitution A G downstream_gene_variant LICA-FR 15 44160991 44160991 deletion of <=200bp T - downstream_gene_variant LIHC-US 15 44158353 44158353 single base substitution G T exon_variant LIHC-US 15 44158353 44158353 single base substitution G T synonymous_variant L484L 1452G>T LIHC-US 15 44158353 44158353 single base substitution G T synonymous_variant L548L 1644G>T LIHC-US 15 44158449 44158449 single base substitution A C exon_variant LIHC-US 15 44158449 44158449 single base substitution A C synonymous_variant T516T 1548A>C LIHC-US 15 44158449 44158449 single base substitution A C synonymous_variant T580T 1740A>C LINC-JP 15 44117866 44117866 single base substitution C T upstream_gene_variant LINC-JP 15 44120607 44120607 single base substitution A G intron_variant LINC-JP 15 44131728 44131728 single base substitution A G intron_variant LINC-JP 15 44136049 44136049 single base substitution A G downstream_gene_variant LINC-JP 15 44136049 44136049 single base substitution A G intron_variant LINC-JP 15 44144317 44144317 single base substitution A G intron_variant LINC-JP 15 44148995 44148995 single base substitution T G intron_variant LINC-JP 15 44148995 44148995 single base substitution T G upstream_gene_variant LINC-JP 15 44160033 44160036 deletion of <=200bp AATC - 3_prime_UTR_variant LINC-JP 15 44160033 44160036 deletion of <=200bp AATC - downstream_gene_variant LINC-JP 15 44160272 44160272 single base substitution A G 3_prime_UTR_variant LINC-JP 15 44160272 44160272 single base substitution A G downstream_gene_variant LINC-JP 15 44163451 44163451 deletion of <=200bp A - downstream_gene_variant LIRI-JP 15 44115018 44115018 single base substitution C T upstream_gene_variant LIRI-JP 15 44115757 44115757 single base substitution G T upstream_gene_variant LIRI-JP 15 44115758 44115758 single base substitution T C upstream_gene_variant LIRI-JP 15 44116216 44116216 single base substitution T C upstream_gene_variant LIRI-JP 15 44121126 44121126 single base substitution A G intron_variant LIRI-JP 15 44124145 44124145 single base substitution C G intron_variant LIRI-JP 15 44124390 44124390 single base substitution A T intron_variant LIRI-JP 15 44125455 44125455 single base substitution T C intron_variant LIRI-JP 15 44129278 44129278 single base substitution A G intron_variant LIRI-JP 15 44132476 44132476 single base substitution C T intron_variant LIRI-JP 15 44135634 44135634 single base substitution G A downstream_gene_variant LIRI-JP 15 44135634 44135634 single base substitution G A intron_variant LIRI-JP 15 44137372 44137372 single base substitution C A downstream_gene_variant LIRI-JP 15 44137372 44137372 single base substitution C A intron_variant LIRI-JP 15 44143665 44143665 single base substitution A G intron_variant LIRI-JP 15 44144451 44144451 single base substitution G A intron_variant LIRI-JP 15 44147058 44147058 single base substitution A G intron_variant LIRI-JP 15 44147058 44147058 single base substitution A G upstream_gene_variant LIRI-JP 15 44149492 44149492 single base substitution A G intron_variant LIRI-JP 15 44149492 44149492 single base substitution A G upstream_gene_variant LIRI-JP 15 44150336 44150336 single base substitution G T intron_variant LIRI-JP 15 44150336 44150336 single base substitution G T upstream_gene_variant LIRI-JP 15 44153433 44153433 single base substitution C G intron_variant LIRI-JP 15 44155397 44155397 single base substitution A C intron_variant LIRI-JP 15 44156339 44156339 single base substitution G A intron_variant LIRI-JP 15 44160162 44160163 deletion of <=200bp AT - 3_prime_UTR_variant LIRI-JP 15 44160162 44160163 deletion of <=200bp AT - downstream_gene_variant LIRI-JP 15 44160807 44160807 single base substitution A G downstream_gene_variant LIRI-JP 15 44161269 44161269 single base substitution T C downstream_gene_variant LIRI-JP 15 44161620 44161620 single base substitution A T downstream_gene_variant LIRI-JP 15 44162422 44162422 single base substitution T C downstream_gene_variant LIRI-JP 15 44163437 44163437 single base substitution G T downstream_gene_variant LIRI-JP 15 44164657 44164657 single base substitution A G downstream_gene_variant LIRI-JP 15 44165349 44165349 single base substitution G C downstream_gene_variant LUSC-KR 15 44116510 44116510 single base substitution G A upstream_gene_variant LUSC-KR 15 44117956 44117956 single base substitution T C upstream_gene_variant LUSC-KR 15 44117988 44117988 single base substitution C A upstream_gene_variant LUSC-KR 15 44121608 44121608 single base substitution C T intron_variant LUSC-KR 15 44153918 44153918 single base substitution T C intron_variant LUSC-KR 15 44154533 44154533 single base substitution A T intron_variant LUSC-KR 15 44156016 44156016 single base substitution C T intron_variant LUSC-KR 15 44157286 44157286 single base substitution A C intron_variant LUSC-KR 15 44160611 44160611 single base substitution G A 3_prime_UTR_variant LUSC-KR 15 44160611 44160611 single base substitution G A downstream_gene_variant LUSC-KR 15 44165328 44165328 single base substitution G A downstream_gene_variant LUSC-US 15 44143306 44143306 single base substitution G T stop_gained G288* 862G>T LUSC-US 15 44143306 44143306 single base substitution G T stop_gained G352* 1054G>T LUSC-US 15 44149268 44149268 single base substitution C T missense_variant S375F 1124C>T LUSC-US 15 44149268 44149268 single base substitution C T missense_variant S439F 1316C>T LUSC-US 15 44149268 44149268 single base substitution C T upstream_gene_variant MALY-DE 15 44114442 44114442 single base substitution G T upstream_gene_variant MALY-DE 15 44115314 44115314 single base substitution C T upstream_gene_variant MALY-DE 15 44115477 44115477 single base substitution C T upstream_gene_variant MALY-DE 15 44116829 44116829 single base substitution C A upstream_gene_variant MALY-DE 15 44122314 44122314 single base substitution C T intron_variant MALY-DE 15 44122701 44122701 single base substitution G C intron_variant MALY-DE 15 44132656 44132656 single base substitution G A intron_variant MALY-DE 15 44157915 44157915 single base substitution T A intron_variant MALY-DE 15 44159756 44159757 deletion of <=200bp AT - 3_prime_UTR_variant MALY-DE 15 44159756 44159757 deletion of <=200bp AT - downstream_gene_variant MALY-DE 15 44165430 44165430 single base substitution T G downstream_gene_variant MELA-AU 15 44114489 44114489 single base substitution G T upstream_gene_variant MELA-AU 15 44115364 44115364 single base substitution G A upstream_gene_variant MELA-AU 15 44115412 44115412 single base substitution G A upstream_gene_variant MELA-AU 15 44116243 44116243 single base substitution A T upstream_gene_variant MELA-AU 15 44116245 44116245 single base substitution T C upstream_gene_variant MELA-AU 15 44116844 44116844 single base substitution G A upstream_gene_variant MELA-AU 15 44116914 44116914 single base substitution G A upstream_gene_variant MELA-AU 15 44117600 44117600 single base substitution C T upstream_gene_variant MELA-AU 15 44117882 44117882 single base substitution C T upstream_gene_variant MELA-AU 15 44118185 44118185 single base substitution T C upstream_gene_variant MELA-AU 15 44118770 44118770 single base substitution A G upstream_gene_variant MELA-AU 15 44120475 44120476 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P125F 373CC>TT MELA-AU 15 44120475 44120476 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P61F 181CC>TT MELA-AU 15 44120975 44120975 single base substitution G A intron_variant MELA-AU 15 44121931 44121931 single base substitution C T intron_variant MELA-AU 15 44122588 44122589 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 44122754 44122754 single base substitution C T intron_variant MELA-AU 15 44123759 44123759 single base substitution C T intron_variant MELA-AU 15 44123760 44123761 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 44124056 44124056 single base substitution G A intron_variant MELA-AU 15 44124945 44124945 single base substitution T C intron_variant MELA-AU 15 44125383 44125383 single base substitution G A intron_variant MELA-AU 15 44126129 44126129 single base substitution G A intron_variant MELA-AU 15 44126274 44126274 single base substitution C T intron_variant MELA-AU 15 44126284 44126284 single base substitution G A intron_variant MELA-AU 15 44127870 44127870 single base substitution T A intron_variant MELA-AU 15 44128739 44128739 single base substitution G T intron_variant MELA-AU 15 44129348 44129348 single base substitution C T intron_variant MELA-AU 15 44130015 44130015 single base substitution C T intron_variant MELA-AU 15 44130595 44130595 single base substitution G A intron_variant MELA-AU 15 44134976 44134977 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 15 44134976 44134977 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 44135805 44135805 single base substitution C T downstream_gene_variant MELA-AU 15 44135805 44135805 single base substitution C T intron_variant MELA-AU 15 44136183 44136183 single base substitution C T downstream_gene_variant MELA-AU 15 44136183 44136183 single base substitution C T synonymous_variant L257L 771C>T MELA-AU 15 44136183 44136183 single base substitution C T synonymous_variant L321L 963C>T MELA-AU 15 44136613 44136613 single base substitution C T downstream_gene_variant MELA-AU 15 44136613 44136613 single base substitution C T intron_variant MELA-AU 15 44137576 44137576 single base substitution T A downstream_gene_variant MELA-AU 15 44137576 44137576 single base substitution T A intron_variant MELA-AU 15 44138141 44138141 single base substitution T C downstream_gene_variant MELA-AU 15 44138141 44138141 single base substitution T C intron_variant MELA-AU 15 44138532 44138533 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 15 44138532 44138533 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 15 44138996 44138996 single base substitution G A downstream_gene_variant MELA-AU 15 44138996 44138996 single base substitution G A intron_variant MELA-AU 15 44140015 44140015 single base substitution C T intron_variant MELA-AU 15 44140109 44140109 single base substitution G T intron_variant MELA-AU 15 44140114 44140114 single base substitution T C intron_variant MELA-AU 15 44140125 44140125 single base substitution C T intron_variant MELA-AU 15 44141010 44141010 single base substitution C T intron_variant MELA-AU 15 44141654 44141654 single base substitution C T intron_variant MELA-AU 15 44141742 44141742 single base substitution G A intron_variant MELA-AU 15 44142750 44142750 single base substitution C T intron_variant MELA-AU 15 44143558 44143558 single base substitution G A intron_variant MELA-AU 15 44144055 44144055 single base substitution C T intron_variant MELA-AU 15 44144091 44144091 single base substitution G A intron_variant MELA-AU 15 44144186 44144186 single base substitution G A intron_variant MELA-AU 15 44144662 44144662 single base substitution C T intron_variant MELA-AU 15 44146640 44146640 single base substitution G A intron_variant MELA-AU 15 44146640 44146640 single base substitution G A upstream_gene_variant MELA-AU 15 44147180 44147180 single base substitution C T intron_variant MELA-AU 15 44147180 44147180 single base substitution C T upstream_gene_variant MELA-AU 15 44147383 44147383 single base substitution C T intron_variant MELA-AU 15 44147383 44147383 single base substitution C T upstream_gene_variant MELA-AU 15 44147713 44147713 single base substitution C T intron_variant MELA-AU 15 44147713 44147713 single base substitution C T upstream_gene_variant MELA-AU 15 44147766 44147766 single base substitution T A intron_variant MELA-AU 15 44147766 44147766 single base substitution T A upstream_gene_variant MELA-AU 15 44148930 44148930 single base substitution C T intron_variant MELA-AU 15 44148930 44148930 single base substitution C T upstream_gene_variant MELA-AU 15 44150562 44150562 single base substitution C T intron_variant MELA-AU 15 44150562 44150562 single base substitution C T upstream_gene_variant MELA-AU 15 44150918 44150919 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 15 44150918 44150919 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P423F 1267CC>TT MELA-AU 15 44150918 44150919 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P487F 1459CC>TT MELA-AU 15 44151267 44151267 single base substitution C T intron_variant MELA-AU 15 44151314 44151314 single base substitution C T intron_variant MELA-AU 15 44151664 44151664 single base substitution T A intron_variant MELA-AU 15 44152402 44152402 single base substitution C T intron_variant MELA-AU 15 44152823 44152824 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 44153570 44153570 single base substitution C T exon_variant MELA-AU 15 44153570 44153570 single base substitution C T synonymous_variant L470L 1410C>T MELA-AU 15 44153570 44153570 single base substitution C T synonymous_variant L534L 1602C>T MELA-AU 15 44153922 44153922 single base substitution G C intron_variant MELA-AU 15 44154129 44154129 single base substitution G A intron_variant MELA-AU 15 44155773 44155773 single base substitution A T intron_variant MELA-AU 15 44155848 44155849 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 44156338 44156338 single base substitution C T intron_variant MELA-AU 15 44156447 44156447 single base substitution C T intron_variant MELA-AU 15 44156798 44156798 single base substitution C T intron_variant MELA-AU 15 44157378 44157378 single base substitution C T intron_variant MELA-AU 15 44157459 44157459 single base substitution A C intron_variant MELA-AU 15 44157608 44157609 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 15 44159071 44159071 single base substitution C T 3_prime_UTR_variant MELA-AU 15 44159071 44159071 single base substitution C T exon_variant MELA-AU 15 44161001 44161001 single base substitution T C downstream_gene_variant MELA-AU 15 44161008 44161008 single base substitution T G downstream_gene_variant MELA-AU 15 44161651 44161651 single base substitution C T downstream_gene_variant MELA-AU 15 44161940 44161940 single base substitution C T downstream_gene_variant MELA-AU 15 44164621 44164621 single base substitution C T downstream_gene_variant MELA-AU 15 44165070 44165070 single base substitution C T downstream_gene_variant ORCA-IN 15 44115008 44115008 single base substitution C G upstream_gene_variant ORCA-IN 15 44134673 44134673 single base substitution C T stop_gained R201* 601C>T ORCA-IN 15 44134673 44134673 single base substitution C T stop_gained R265* 793C>T ORCA-IN 15 44139870 44139870 single base substitution C T intron_variant ORCA-IN 15 44157606 44157606 single base substitution G A intron_variant ORCA-IN 15 44158358 44158358 single base substitution G T exon_variant ORCA-IN 15 44158358 44158358 single base substitution G T missense_variant R486M 1457G>T ORCA-IN 15 44158358 44158358 single base substitution G T missense_variant R550M 1649G>T OV-AU 15 44115591 44115591 single base substitution T G upstream_gene_variant OV-AU 15 44115592 44115592 single base substitution T A upstream_gene_variant OV-AU 15 44116569 44116569 single base substitution A C upstream_gene_variant OV-AU 15 44122620 44122620 single base substitution C A intron_variant OV-AU 15 44125804 44125804 single base substitution A C intron_variant OV-AU 15 44125939 44125939 single base substitution A G intron_variant OV-AU 15 44135215 44135215 single base substitution T C downstream_gene_variant OV-AU 15 44135215 44135215 single base substitution T C intron_variant OV-AU 15 44138690 44138690 single base substitution T C downstream_gene_variant OV-AU 15 44138690 44138690 single base substitution T C intron_variant OV-AU 15 44140616 44140616 single base substitution G C intron_variant OV-AU 15 44146140 44146140 single base substitution A C intron_variant OV-AU 15 44146140 44146140 single base substitution A C upstream_gene_variant OV-AU 15 44146766 44146766 single base substitution A G intron_variant OV-AU 15 44146766 44146766 single base substitution A G upstream_gene_variant OV-AU 15 44149263 44149263 single base substitution A G synonymous_variant G373G 1119A>G OV-AU 15 44149263 44149263 single base substitution A G synonymous_variant G437G 1311A>G OV-AU 15 44149263 44149263 single base substitution A G upstream_gene_variant OV-AU 15 44161077 44161077 single base substitution C G downstream_gene_variant OV-AU 15 44164741 44164741 single base substitution G A downstream_gene_variant PACA-AU 15 44125505 44125509 deletion of <=200bp TTTCT - intron_variant PACA-AU 15 44126732 44126732 single base substitution A G intron_variant PACA-AU 15 44127490 44127496 deletion of <=200bp CCCGCCC - intron_variant PACA-AU 15 44128871 44128871 single base substitution C T intron_variant PACA-AU 15 44129028 44129028 single base substitution A T intron_variant PACA-AU 15 44131265 44131265 single base substitution G A intron_variant PACA-AU 15 44141513 44141513 single base substitution A G intron_variant PACA-AU 15 44144270 44144270 single base substitution A G intron_variant PACA-AU 15 44148797 44148797 single base substitution G T intron_variant PACA-AU 15 44148797 44148797 single base substitution G T upstream_gene_variant PACA-AU 15 44149550 44149550 insertion of <=200bp - T intron_variant PACA-AU 15 44149550 44149550 insertion of <=200bp - T upstream_gene_variant PACA-AU 15 44159451 44159451 single base substitution C T 3_prime_UTR_variant PACA-AU 15 44159451 44159451 single base substitution C T downstream_gene_variant PACA-AU 15 44160586 44160586 single base substitution C T 3_prime_UTR_variant PACA-AU 15 44160586 44160586 single base substitution C T downstream_gene_variant PACA-CA 15 44120792 44120792 single base substitution T C intron_variant PACA-CA 15 44122441 44122441 single base substitution T C intron_variant PACA-CA 15 44123290 44123290 single base substitution G A intron_variant PACA-CA 15 44123493 44123493 single base substitution C G intron_variant PACA-CA 15 44124410 44124410 deletion of <=200bp T - intron_variant PACA-CA 15 44125726 44125726 single base substitution C T intron_variant PACA-CA 15 44128966 44128966 single base substitution A G intron_variant PACA-CA 15 44129255 44129255 single base substitution C A intron_variant PACA-CA 15 44136303 44136303 single base substitution G A downstream_gene_variant PACA-CA 15 44136303 44136303 single base substitution G A intron_variant PACA-CA 15 44138050 44138050 single base substitution A G downstream_gene_variant PACA-CA 15 44138050 44138050 single base substitution A G intron_variant PACA-CA 15 44139386 44139386 single base substitution T A downstream_gene_variant PACA-CA 15 44139386 44139386 single base substitution T A intron_variant PACA-CA 15 44139870 44139870 single base substitution C T intron_variant PACA-CA 15 44142024 44142024 single base substitution G A intron_variant PACA-CA 15 44149240 44149240 single base substitution C T synonymous_variant L366L 1096C>T PACA-CA 15 44149240 44149240 single base substitution C T synonymous_variant L430L 1288C>T PACA-CA 15 44149240 44149240 single base substitution C T upstream_gene_variant PACA-CA 15 44159449 44159449 single base substitution G T 3_prime_UTR_variant PACA-CA 15 44159449 44159449 single base substitution G T downstream_gene_variant PACA-CA 15 44165537 44165537 insertion of <=200bp - A downstream_gene_variant PAEN-AU 15 44142758 44142758 single base substitution G A intron_variant PBCA-DE 15 44137485 44137485 single base substitution G A downstream_gene_variant PBCA-DE 15 44137485 44137485 single base substitution G A intron_variant PBCA-DE 15 44138844 44138844 insertion of <=200bp - T downstream_gene_variant PBCA-DE 15 44138844 44138844 insertion of <=200bp - T intron_variant PBCA-DE 15 44139467 44139467 insertion of <=200bp - T downstream_gene_variant PBCA-DE 15 44139467 44139467 insertion of <=200bp - T intron_variant PBCA-DE 15 44146928 44146928 insertion of <=200bp - CCCT intron_variant PBCA-DE 15 44146928 44146928 insertion of <=200bp - CCCT upstream_gene_variant PBCA-DE 15 44153671 44153671 single base substitution G T intron_variant PBCA-DE 15 44156799 44156799 deletion of <=200bp T - intron_variant PRAD-CA 15 44116902 44116902 single base substitution A T upstream_gene_variant PRAD-CA 15 44121996 44121996 single base substitution G A intron_variant PRAD-UK 15 44115591 44115591 single base substitution T G upstream_gene_variant PRAD-UK 15 44115592 44115592 single base substitution T A upstream_gene_variant PRAD-UK 15 44119284 44119286 deletion of <=200bp GAT - 5_prime_UTR_variant PRAD-UK 15 44119284 44119286 deletion of <=200bp GAT - inframe_deletion QM18Q PRAD-UK 15 44137348 44137348 single base substitution G T downstream_gene_variant PRAD-UK 15 44137348 44137348 single base substitution G T intron_variant PRAD-UK 15 44160143 44160143 single base substitution G T 3_prime_UTR_variant PRAD-UK 15 44160143 44160143 single base substitution G T downstream_gene_variant READ-US 15 44120321 44120321 single base substitution G T missense_variant K73N 219G>T READ-US 15 44120321 44120321 single base substitution G T missense_variant K9N 27G>T READ-US 15 44120539 44120539 single base substitution G A missense_variant S146N 437G>A READ-US 15 44120539 44120539 single base substitution G A missense_variant S82N 245G>A RECA-EU 15 44122108 44122108 single base substitution G A intron_variant RECA-EU 15 44126007 44126007 single base substitution G A intron_variant RECA-EU 15 44127668 44127668 single base substitution C A intron_variant RECA-EU 15 44135295 44135295 single base substitution C G downstream_gene_variant RECA-EU 15 44135295 44135295 single base substitution C G intron_variant RECA-EU 15 44142345 44142345 single base substitution C T intron_variant RECA-EU 15 44147276 44147276 single base substitution C T intron_variant RECA-EU 15 44147276 44147276 single base substitution C T upstream_gene_variant SKCA-BR 15 44116652 44116652 single base substitution T G upstream_gene_variant SKCA-BR 15 44120102 44120102 single base substitution G T intron_variant SKCA-BR 15 44122754 44122754 single base substitution C T intron_variant SKCA-BR 15 44122760 44122761 deletion of <=200bp CA - intron_variant SKCA-BR 15 44123233 44123233 single base substitution G A intron_variant SKCA-BR 15 44125830 44125830 single base substitution T G intron_variant SKCA-BR 15 44126528 44126528 single base substitution C T intron_variant SKCA-BR 15 44130033 44130033 single base substitution A C intron_variant SKCA-BR 15 44130270 44130270 single base substitution A C intron_variant SKCA-BR 15 44132352 44132352 single base substitution C T intron_variant SKCA-BR 15 44133218 44133218 insertion of <=200bp - CT intron_variant SKCA-BR 15 44133391 44133391 single base substitution G T intron_variant SKCA-BR 15 44137520 44137520 single base substitution C T downstream_gene_variant SKCA-BR 15 44137520 44137520 single base substitution C T intron_variant SKCA-BR 15 44140801 44140801 single base substitution A C intron_variant SKCA-BR 15 44142046 44142046 single base substitution T A intron_variant SKCA-BR 15 44142465 44142470 deletion of <=200bp TTTTTA - intron_variant SKCA-BR 15 44142578 44142578 single base substitution C T intron_variant SKCA-BR 15 44143082 44143082 single base substitution T C intron_variant SKCA-BR 15 44153922 44153922 single base substitution G A intron_variant SKCA-BR 15 44154506 44154506 insertion of <=200bp - AT intron_variant SKCA-BR 15 44155751 44155751 insertion of <=200bp - CT intron_variant SKCA-BR 15 44161901 44161901 single base substitution C T downstream_gene_variant SKCA-BR 15 44162455 44162456 deletion of <=200bp GT - downstream_gene_variant SKCM-US 15 44120337 44120337 single base substitution G A missense_variant V15M 43G>A SKCM-US 15 44120337 44120337 single base substitution G A missense_variant V79M 235G>A SKCM-US 15 44127344 44127344 single base substitution C A missense_variant S119Y 356C>A SKCM-US 15 44127344 44127344 single base substitution C A missense_variant S183Y 548C>A SKCM-US 15 44153570 44153570 single base substitution C T exon_variant SKCM-US 15 44153570 44153570 single base substitution C T synonymous_variant L470L 1410C>T SKCM-US 15 44153570 44153570 single base substitution C T synonymous_variant L534L 1602C>T SKCM-US 15 44158466 44158466 single base substitution C T exon_variant SKCM-US 15 44158466 44158466 single base substitution C T missense_variant S522L 1565C>T SKCM-US 15 44158466 44158466 single base substitution C T missense_variant S586L 1757C>T STAD-US 15 44120184 44120184 single base substitution C T 5_prime_UTR_variant STAD-US 15 44120184 44120184 single base substitution C T intron_variant STAD-US 15 44120184 44120184 single base substitution C T stop_gained Q28* 82C>T STAD-US 15 44120406 44120406 single base substitution T A missense_variant S102T 304T>A STAD-US 15 44120406 44120406 single base substitution T A missense_variant S38T 112T>A STAD-US 15 44120487 44120487 single base substitution G T missense_variant A129S 385G>T STAD-US 15 44120487 44120487 single base substitution G T missense_variant A65S 193G>T STAD-US 15 44127267 44127267 single base substitution G A synonymous_variant S157S 471G>A STAD-US 15 44127267 44127267 single base substitution G A synonymous_variant S93S 279G>A STAD-US 15 44127282 44127282 single base substitution C T synonymous_variant Y162Y 486C>T STAD-US 15 44127282 44127282 single base substitution C T synonymous_variant Y98Y 294C>T STAD-US 15 44127316 44127316 single base substitution G A missense_variant A110T 328G>A STAD-US 15 44127316 44127316 single base substitution G A missense_variant A174T 520G>A STAD-US 15 44131849 44131849 single base substitution C T stop_gained R155* 463C>T STAD-US 15 44131849 44131849 single base substitution C T stop_gained R219* 655C>T STAD-US 15 44143344 44143344 single base substitution C T synonymous_variant S300S 900C>T STAD-US 15 44143344 44143344 single base substitution C T synonymous_variant S364S 1092C>T STAD-US 15 44149345 44149345 single base substitution A G missense_variant I401V 1201A>G STAD-US 15 44149345 44149345 single base substitution A G missense_variant I465V 1393A>G STAD-US 15 44149345 44149345 single base substitution A G upstream_gene_variant UCEC-US 15 44120485 44120485 single base substitution C T missense_variant T128M 383C>T UCEC-US 15 44120485 44120485 single base substitution C T missense_variant T64M 191C>T UCEC-US 15 44134637 44134637 single base substitution G T stop_gained E189* 565G>T UCEC-US 15 44134637 44134637 single base substitution G T stop_gained E253* 757G>T UCEC-US 15 44149150 44149150 single base substitution A C synonymous_variant R336R 1006A>C UCEC-US 15 44149150 44149150 single base substitution A C synonymous_variant R400R 1198A>C UCEC-US 15 44149150 44149150 single base substitution A C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 22 COSM5016472 c.145_146insTC p.Y50fs*13 Insertion - Frameshift 15:43828049-43828050 + TARGET-30-PASXNN COSM1288953 c.1824G>T p.L608F Substitution - Missense 15:43866335-43866335 + ESO-1670 COSM1270431 c.486C>T p.Y162Y Substitution - coding silent 15:43835084-43835084 + PT37 COSM5920920 c.1563-5T>A p.? Unknown 15:43861328-43861328 + TCGA-BS-A0UV-01 COSM962078 c.1198A>C p.R400R Substitution - coding silent 15:43856952-43856952 + BD49T COSM5498160 c.1102T>G p.F368V Substitution - Missense 15:43851156-43851156 + TCGA-E2-A14P-01 COSM433937 c.12G>T p.S4S Substitution - coding silent 15:43827044-43827044 + PD4082a COSM166270 c.1447_1449delAGG p.R483delR Deletion - In frame 15:43858708-43858710 + AOCS-091-1-3 COSM3981518 c.1311A>G p.G437G Substitution - coding silent 15:43857065-43857065 + SNUH_G26_S1 COSM3678215 c.1840A>G p.S614G Substitution - Missense 15:43866351-43866351 + S00841 COSM318290 c.602C>T p.S201F Substitution - Missense 15:43836210-43836210 + MedB-1 COSM5622172 c.653T>C p.M218T Substitution - Missense 15:43839649-43839649 + PT35 COSM5913726 c.341C>T p.S114L Substitution - Missense 15:43828245-43828245 + Pat_14_B COSM5849245 c.1814G>A p.R605Q Substitution - Missense 15:43866325-43866325 + LAU149 COSM233767 c.568C>T p.R190C Substitution - Missense 15:43836176-43836176 + TCGA-D8-A1XQ-01 COSM3816163 c.1503C>T p.A501A Substitution - coding silent 15:43858764-43858764 + TCGA-ER-A19P-06 COSM3501537 c.548C>A p.S183Y Substitution - Missense 15:43835146-43835146 + DN11197 COSM5788983 c.933T>G p.V311V Substitution - coding silent 15:43843955-43843955 + TCGA-66-2734-01 COSM555192 c.1054G>T p.G352* Substitution - Nonsense 15:43851108-43851108 + PD7306a COSM5788983 c.933T>G p.V311V Substitution - coding silent 15:43843955-43843955 + 2492710 COSM2188863 c.1838C>T p.S613F Substitution - Missense 15:43866349-43866349 + ESCC_25 COSM5626663 c.1363C>T p.H455Y Substitution - Missense 15:43857117-43857117 + Pat_53_B COSM188278 c.656G>A p.R219Q Substitution - Missense 15:43839652-43839652 + TCGA-EE-A2GB-06 COSM3501538 c.1602C>T p.L534L Substitution - coding silent 15:43861372-43861372 + TCGA-AA-3672-01 COSM267760 c.1157G>A p.R386H Substitution - Missense 15:43851211-43851211 + TCGA-F5-6814-01 COSM3420321 c.219G>T p.K73N Substitution - Missense 15:43828123-43828123 + TCGA-CD-8531-01 COSM4054889 c.82C>T p.Q28* Substitution - Nonsense 15:43827986-43827986 + PD11819a COSM5770232 c.541C>T p.Q181* Substitution - Nonsense 15:43835139-43835139 + ESCC_BICR_008T COSM5428823 c.1156C>T p.R386C Substitution - Missense 15:43851210-43851210 + TCGA-BH-A0E6-01 COSM433939 c.1331C>A p.T444N Substitution - Missense 15:43857085-43857085 + 384 COSM4426761 c.1717C>T p.R573W Substitution - Missense 15:43866228-43866228 + SJHYPO026 COSM4775557 c.419G>A p.S140N Substitution - Missense 15:43828323-43828323 + ESCC_111 COSM5639307 c.977C>G p.T326S Substitution - Missense 15:43843999-43843999 + 61 COSM2188843 c.793C>T p.R265* Substitution - Nonsense 15:43842475-43842475 + TCGA-IN-7806-01 COSM4054891 c.385G>T p.A129S Substitution - Missense 15:43828289-43828289 + PCSI_0023_Pa_P COSM1158482 c.1288C>T p.L430L Substitution - coding silent 15:43857042-43857042 + TCGA-UB-A7MB-01 COSM4932214 c.1740A>C p.T580T Substitution - coding silent 15:43866251-43866251 + KM12 COSM2188861 c.1707C>T p.A569A Substitution - coding silent 15:43866218-43866218 + 2492708 COSM2188863 c.1838C>T p.S613F Substitution - Missense 15:43866349-43866349 + TCGA-CZ-5464-01 COSM470698 c.507C>T p.N169N Substitution - coding silent 15:43835105-43835105 + PCSI0023 COSM1158482 c.1288C>T p.L430L Substitution - coding silent 15:43857042-43857042 + TCGA-BH-A0AV-01 COSM433938 c.854A>C p.E285A Substitution - Missense 15:43842647-43842647 + 7 COSM327548 c.11C>T p.S4L Substitution - Missense 15:43827043-43827043 + SNU-C2B COSM2188862 c.1820T>G p.I607S Substitution - Missense 15:43866331-43866331 + PD24216a COSM5798122 c.1477G>A p.E493K Substitution - Missense 15:43858738-43858738 + CSCC-35-T COSM4462111 c.1233C>T p.F411F Substitution - coding silent 15:43856987-43856987 + Pat_16_A COSM5849244 c.470C>T p.S157L Substitution - Missense 15:43835068-43835068 + TCGA-BR-7851-01 COSM2188833 c.520G>A p.A174T Substitution - Missense 15:43835118-43835118 + CSCC-40-T COSM4469225 c.1589C>T p.S530F Substitution - Missense 15:43861359-43861359 + TCGA-AN-A046-01 COSM3816162 c.1323G>T p.E441D Substitution - Missense 15:43857077-43857077 + 255 COSM2188843 c.793C>T p.R265* Substitution - Nonsense 15:43842475-43842475 + Pat_16_B COSM5849244 c.470C>T p.S157L Substitution - Missense 15:43835068-43835068 + ME032T COSM227358 c.667G>A p.V223I Substitution - Missense 15:43839663-43839663 + SCC-25 COSM2188832 c.503A>G p.K168R Substitution - Missense 15:43835101-43835101 + SJACT005_D COSM4968057 c.879-5C>G p.? Unknown 15:43843896-43843896 + TCGA-D3-A1QA-06 COSM3501536 c.235G>A p.V79M Substitution - Missense 15:43828139-43828139 + T613 COSM4741073 c.1413T>C p.D471D Substitution - coding silent 15:43858674-43858674 + TCGA-D7-5579-01 COSM4054892 c.471G>A p.S157S Substitution - coding silent 15:43835069-43835069 + 1946219 COSM1578181 c.511T>G p.S171A Substitution - Missense 15:43835109-43835109 + TCGA-60-2698-01 COSM700468 c.1316C>T p.S439F Substitution - Missense 15:43857070-43857070 + TCGA-EX-A1H5-01 COSM459024 c.519C>T p.N173N Substitution - coding silent 15:43835117-43835117 + TCGA-AM-5821-01 COSM3754339 c.457T>G p.S153A Substitution - Missense 15:43828361-43828361 + TCGA-CU-A3KJ-01 COSM1301155 c.1388A>G p.Y463C Substitution - Missense 15:43857142-43857142 + 391 COSM4427896 c.788A>G p.N263S Substitution - Missense 15:43842470-43842470 + TCGA-CM-5861-01 COSM1373092 c.990A>G p.V330V Substitution - coding silent 15:43844012-43844012 + TCGA-24-2019-01 COSM117516 c.415G>A p.E139K Substitution - Missense 15:43828319-43828319 + TCGA-BR-4184-01 COSM4054890 c.304T>A p.S102T Substitution - Missense 15:43828208-43828208 + TCGA-BR-4292-01 COSM4054893 c.655C>T p.R219* Substitution - Nonsense 15:43839651-43839651 + TCGA-F5-6814-01 COSM3420322 c.437G>A p.S146N Substitution - Missense 15:43828341-43828341 + TCGA-FU-A3HZ-01 COSM4841227 c.249G>T p.K83N Substitution - Missense 15:43828153-43828153 + 2492709 COSM2188863 c.1838C>T p.S613F Substitution - Missense 15:43866349-43866349 + TCGA-CC-A7IG-01 COSM4942932 c.1644G>T p.L548L Substitution - coding silent 15:43866155-43866155 + 6115114 COSM5547160 c.633_634delGA p.I212fs*3 Deletion - Frameshift 15:43839629-43839630 + 587376 COSM1232657 c.791A>C p.E264A Substitution - Missense 15:43842473-43842473 + 42T COSM2188843 c.793C>T p.R265* Substitution - Nonsense 15:43842475-43842475 + TCGA-F1-6177-01 COSM1270431 c.486C>T p.Y162Y Substitution - coding silent 15:43835084-43835084 + 587376 COSM1232656 c.133A>C p.K45Q Substitution - Missense 15:43828037-43828037 + 19 COSM5747636 c.1585T>C p.S529P Substitution - Missense 15:43861355-43861355 + OSCC-GB_00740111 COSM4890792 c.1649G>T p.R550M Substitution - Missense 15:43866160-43866160 + T2944 COSM4741072 c.679G>A p.G227R Substitution - Missense 15:43839675-43839675 + TCGA-D3-A3MR-06 COSM1708087 c.1757C>T p.S586L Substitution - Missense 15:43866268-43866268 + TCGA-HU-A4GN-01 COSM4054894 c.1092C>T p.S364S Substitution - coding silent 15:43851146-43851146 + TCGA-D1-A101-01 COSM962076 c.383C>T p.T128M Substitution - Missense 15:43828287-43828287 + HCC138T COSM433937 c.12G>T p.S4S Substitution - coding silent 15:43827044-43827044 + TCGA-B5-A0JY-01 COSM962077 c.757G>T p.E253* Substitution - Nonsense 15:43842439-43842439 + S16_post COSM4426761 c.1717C>T p.R573W Substitution - Missense 15:43866228-43866228 + S00841 COSM318291 c.711G>T p.P237P Substitution - coding silent 15:43839707-43839707 + TCGA-CG-5721-01 COSM4054895 c.1393A>G p.I465V Substitution - Missense 15:43857147-43857147 + WA31 COSM238437 c.1785G>A p.V595V Substitution - coding silent 15:43866296-43866296 + S02385 COSM5698804 c.1549G>T p.D517Y Substitution - Missense 15:43858810-43858810 + S00841 COSM318291 c.711G>T p.P237P Substitution - coding silent 15:43839707-43839707 + FL007 COSM220520 c.1603C>T p.L535F Substitution - Missense 15:43861373-43861373 + S00841 COSM318290 c.602C>T p.S201F Substitution - Missense 15:43836210-43836210 + WSU-HN6 COSM4602120 c.1081C>T p.Q361* Substitution - Nonsense 15:43851135-43851135 + TCGA-AC-A23H-01 COSM3816164 c.1746G>C p.K582N Substitution - Missense 15:43866257-43866257 + WSU-HN13 COSM4601756 c.1490G>T p.S497I Substitution - Missense 15:43858751-43858751 + CSCC-7-T COSM4513804 c.951C>T p.F317F Substitution - coding silent 15:43843973-43843973 + YUDEDE COSM1708087 c.1757C>T p.S586L Substitution - Missense 15:43866268-43866268 + T3225 COSM4741071 c.240G>A p.A80A Substitution - coding silent 15:43828144-43828144 + TCGA-IR-A3LA-01 COSM4845274 c.224C>G p.S75C Substitution - Missense 15:43828128-43828128 + sysucc-1317T COSM5448744 c.922G>A p.V308I Substitution - Missense 15:43843944-43843944 + DLBCL-PatientD COSM220318 c.353C>A p.T118N Substitution - Missense 15:43828257-43828257 + OSCC-GB_00420111 COSM2188843 c.793C>T p.R265* Substitution - Nonsense 15:43842475-43842475 + TCGA-EI-6917-01 COSM3420321 c.219G>T p.K73N Substitution - Missense 15:43828123-43828123 + 587220 COSM1232655 c.701C>A p.P234Q Substitution - Missense 15:43839697-43839697 + STC297 COSM5054310 c.1167delT p.S391fs*29 Deletion - Frameshift 15:43851221-43851221 + C086 COSM5541728 c.336A>G p.S112S Substitution - coding silent 15:43828240-43828240 + TCGA-EW-A1P6-01 COSM1478148 c.1763G>T p.G588V Substitution - Missense 15:43866274-43866274 + TCGA-06-6699-01 COSM3401757 c.1454G>A p.S485N Substitution - Missense 15:43858715-43858715 + TCGA-BP-4768-01 COSM3361414 c.899G>T p.G300V Substitution - Missense 15:43843921-43843921 + YUMOYA COSM1708087 c.1757C>T p.S586L Substitution - Missense 15:43866268-43866268 + TCGA-BT-A2LB-01 COSM3794191 c.487G>A p.E163K Substitution - Missense 15:43835085-43835085 + pfg043T COSM4754047 c.614A>C p.K205T Substitution - Missense 15:43839610-43839610 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.250127;Hs.250154 15q15.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E285A c.854A>C 15 44134845 BRCA AGG - InFrameDeletion p.R484delR c.1449_1451delGAG 15 44150906 BRCA A G Missense p.K97E c.289A>G 15 44120391 BRCA A G Missense p.T453A c.1357A>G 15 44149309 CM A G Missense p.Y463C c.1388A>G 15 44149340 BLCA A G Synonymous p.Q110Q c.330A>G 15 44120432 THCA C A Missense p.S183Y c.548C>A 15 44127344 CM C A Missense p.T444N c.1331C>A 15 44149283 BRCA C A Missense p.T604N c.1811C>A 15 44158520 CM C G Missense p.F368L c.1104C>G 15 44143356 BRCA C T Missense p.S201F c.602C>T 15 44128408 SCLC C T Missense p.S586L c.1757C>T 15 44158466 CM C T Missense p.T128M c.383C>T 15 44120485 UCEC C T Nonsense p.R219* c.655C>T 15 44131849 STAD C T Synonymous p.H602H c.1806C>T 15 44158515 LUAD C T Synonymous p.L534L c.1602C>T 15 44153570 CM C T Synonymous p.Y162Y c.486C>T 15 44127282 STAD G A Missense p.A371T c.1111G>A 15 44143363 HNSC G A Missense p.E139K c.415G>A 15 44120517 OV G A Missense p.E163K c.487G>A 15 44127283 BLCA G A Missense p.E560K c.1678G>A 15 44158387 HNSC G A Missense p.S140N c.419G>A 15 44120521 ALL G A Missense p.S485N c.1454G>A 15 44150913 GBM G A Missense p.V223I c.667G>A 15 44131861 CM G A Missense p.V79M c.235G>A 15 44120337 CM G A Synonymous p.S157S c.471G>A 15 44127267 STAD G T Missense p.G300V c.899G>T 15 44136119 RCCC G T Missense p.G588V c.1763G>T 15 44158472 BRCA G T Missense p.L608F c.1824G>T 15 44158533 NB G T Nonsense p.G352* c.1054G>T 15 44143306 LUSC G T Synonymous p.P237P c.711G>T 15 44131905 SCLC G T Synonymous p.S4S c.12G>T 15 44119242 BRCA