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 8 125487359 125487359 + Silent SNP C C T TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr8:125487359C>T c.9C>T c.(7-9)gcC>gcT p.A3A BLCA 8 125487416 125487416 + Silent SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr8:125487416C>G c.66C>G c.(64-66)ctC>ctG p.L22L BLCA 8 125487428 125487428 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr8:125487428C>G c.78C>G c.(76-78)ctC>ctG p.L26L BLCA 8 125487452 125487452 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr8:125487452C>G c.102C>G c.(100-102)atC>atG p.I34M BLCA 8 125487527 125487527 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr8:125487527C>G c.177C>G c.(175-177)ctC>ctG p.L59L BLCA 8 125499112 125499112 + IGR SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr8:125499112T>C BLCA 8 125499332 125499332 + IGR SNP G G C TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 g.chr8:125499332G>C BLCA 8 125499414 125499414 + IGR SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr8:125499414C>G BLCA 8 125499670 125499670 + IGR SNP G G A TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 g.chr8:125499670G>A BLCA 8 125499824 125499824 + IGR SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 g.chr8:125499824G>C BRCA 8 125498103 125498103 + IGR SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr8:125498103G>C BRCA 8 125498340 125498340 + IGR SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr8:125498340C>G BRCA 8 125498596 125498596 + IGR SNP G G A TCGA-E2-A14V-01A-11D-A12B-09 TCGA-E2-A14V-10A-01D-A12B-09 g.chr8:125498596G>A CESC 8 125499264 125499264 + IGR SNP C C G TCGA-LP-A5U3-01A-11D-A28B-09 TCGA-LP-A5U3-10A-01D-A28E-09 g.chr8:125499264C>G COAD 8 125498080 125498080 + IGR SNP G G A TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr8:125498080G>A COAD 8 125498533 125498533 + IGR SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr8:125498533A>G COAD 8 125498855 125498855 + IGR SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr8:125498855G>A COAD 8 125498953 125498953 + IGR SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:125498953A>C COAD 8 125499040 125499040 + IGR SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:125499040T>C COAD 8 125499226 125499226 + IGR SNP A A G TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr8:125499226A>G COAD 8 125499227 125499227 + IGR SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr8:125499227T>C COAD 8 125499283 125499283 + IGR SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr8:125499283C>T COAD 8 125499505 125499505 + IGR SNP C C T TCGA-AA-3514-01A-02W-0831-10 TCGA-AA-3514-10A-01W-0831-10 g.chr8:125499505C>T COAD 8 125499529 125499529 + IGR SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr8:125499529T>C COAD 8 125499566 125499566 + IGR DEL G G - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr8:125499566delG COAD 8 125499624 125499624 + IGR SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:125499624T>G COADREAD 8 125498080 125498080 + IGR SNP G G A TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr8:125498080G>A COADREAD 8 125498533 125498533 + IGR SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr8:125498533A>G COADREAD 8 125498855 125498855 + IGR SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr8:125498855G>A COADREAD 8 125498953 125498953 + IGR SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr8:125498953A>C COADREAD 8 125499040 125499040 + IGR SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr8:125499040T>C COADREAD 8 125499053 125499053 + IGR SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:125499053G>T COADREAD 8 125499226 125499226 + IGR SNP A A G TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr8:125499226A>G COADREAD 8 125499227 125499227 + IGR SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr8:125499227T>C COADREAD 8 125499283 125499283 + IGR SNP C C T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr8:125499283C>T COADREAD 8 125499505 125499505 + IGR SNP C C T TCGA-AA-3514-01A-02W-0831-10 TCGA-AA-3514-10A-01W-0831-10 g.chr8:125499505C>T COADREAD 8 125499529 125499529 + IGR SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr8:125499529T>C COADREAD 8 125499566 125499566 + IGR DEL G G - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr8:125499566delG COADREAD 8 125499624 125499624 + IGR SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:125499624T>G COADREAD 8 125499824 125499824 + IGR SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:125499824G>T ESCA 8 125498688 125498688 + IGR SNP C C T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 g.chr8:125498688C>T GBMLGG 8 125498877 125498880 + IGR DEL TTTA TTTA - TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 g.chr8:125498877_125498880delTTTA HNSC 8 125498293 125498293 + IGR SNP C C G TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 g.chr8:125498293C>G HNSC 8 125498726 125498726 + IGR SNP A A G TCGA-QK-A8Z9-01B-11D-A391-08 TCGA-QK-A8Z9-10A-01D-A394-08 g.chr8:125498726A>G HNSC 8 125498931 125498931 + IGR SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 g.chr8:125498931G>A HNSC 8 125498991 125498991 + IGR SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 g.chr8:125498991C>T KIPAN 8 125498660 125498660 + IGR SNP T T G TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr8:125498660T>G KIPAN 8 125499771 125499771 + IGR SNP G G C TCGA-UZ-A9PL-01A-11D-A382-10 TCGA-UZ-A9PL-10A-01D-A385-10 g.chr8:125499771G>C KIRC 8 125498660 125498660 + IGR SNP T T G TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr8:125498660T>G KIRP 8 125499771 125499771 + IGR SNP G G C TCGA-UZ-A9PL-01A-11D-A382-10 TCGA-UZ-A9PL-10A-01D-A385-10 g.chr8:125499771G>C LGG 8 125498877 125498880 + IGR DEL TTTA TTTA - TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 g.chr8:125498877_125498880delTTTA LIHC 8 125487462 125487462 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr8:125487462T>C c.112T>C c.(112-114)Ttc>Ctc p.F38L LIHC 8 125498418 125498418 + IGR SNP G G T TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr8:125498418G>T LUAD 8 125487417 125487417 + Nonsense_Mutation SNP G G T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr8:125487417G>T c.67G>T c.(67-69)Gaa>Taa p.E23* LUAD 8 125487455 125487455 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 g.chr8:125487455C>A c.105C>A c.(103-105)gaC>gaA p.D35E LUAD 8 125498172 125498172 + IGR SNP G G A TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 g.chr8:125498172G>A LUAD 8 125498478 125498478 + IGR SNP G G A TCGA-86-8671-01A-11D-2393-08 TCGA-86-8671-10A-01D-2393-08 g.chr8:125498478G>A LUAD 8 125498688 125498688 + IGR SNP C C T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr8:125498688C>T LUAD 8 125498769 125498769 + IGR SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr8:125498769C>T LUAD 8 125499067 125499084 + IGR DEL CTGTTTGTCTCTGCTTGC CTGTTTGTCTCTGCTTGC - TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 g.chr8:125499067_125499084delCTGTTTGTCTCTGCTTGC LUAD 8 125499537 125499537 + IGR SNP C C T TCGA-J2-8194-01A-11D-2238-08 TCGA-J2-8194-10A-01D-2238-08 g.chr8:125499537C>T LUSC 8 125499022 125499022 + IGR SNP C C T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr8:125499022C>T PAAD 8 125498200 125498200 + IGR SNP G G T TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr8:125498200G>T PRAD 8 125498222 125498222 + IGR SNP C C A TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 g.chr8:125498222C>A PRAD 8 125499608 125499608 + IGR SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 g.chr8:125499608G>A READ 8 125499053 125499053 + IGR SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:125499053G>T READ 8 125499824 125499824 + IGR SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:125499824G>T SARC 8 125498135 125498144 + IGR DEL ACAGCTCAGC ACAGCTCAGC - TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 g.chr8:125498135_125498144delACAGCTCAGC SKCM 8 125498264 125498264 + IGR SNP C C A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 g.chr8:125498264C>A SKCM 8 125498514 125498514 + IGR SNP T T G TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr8:125498514T>G SKCM 8 125498977 125498977 + IGR SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr8:125498977G>A SKCM 8 125499402 125499402 + IGR SNP A A G TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr8:125499402A>G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 8 125498219 125498219 single base substitution A G 5_prime_UTR_variant BLCA-CN 8 125498219 125498219 single base substitution A G missense_variant N110S 329A>G BLCA-US 8 125487416 125487416 single base substitution C G synonymous_variant L22L 66C>G BLCA-US 8 125487428 125487428 single base substitution C G synonymous_variant L26L 78C>G BLCA-US 8 125487452 125487452 single base substitution C G missense_variant I34M 102C>G BLCA-US 8 125487527 125487527 single base substitution C G synonymous_variant L59L 177C>G BLCA-US 8 125499414 125499414 single base substitution C G downstream_gene_variant BLCA-US 8 125499414 125499414 single base substitution C G missense_variant I508M 1524C>G BRCA-EU 8 125483863 125483863 single base substitution C G upstream_gene_variant BRCA-EU 8 125484098 125484098 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 125484301 125484301 single base substitution G A upstream_gene_variant BRCA-EU 8 125485168 125485168 single base substitution A T upstream_gene_variant BRCA-EU 8 125486620 125486620 single base substitution G T upstream_gene_variant BRCA-EU 8 125487023 125487023 single base substitution G C 5_prime_UTR_variant BRCA-EU 8 125487724 125487724 single base substitution G C intron_variant BRCA-EU 8 125489454 125489454 single base substitution C T intron_variant BRCA-EU 8 125489839 125489839 single base substitution G C intron_variant BRCA-EU 8 125490011 125490011 single base substitution C A intron_variant BRCA-EU 8 125490576 125490576 single base substitution G A intron_variant BRCA-EU 8 125492472 125492472 single base substitution T C intron_variant BRCA-EU 8 125492472 125492472 single base substitution T C upstream_gene_variant BRCA-EU 8 125493159 125493159 deletion of <=200bp T - intron_variant BRCA-EU 8 125493159 125493159 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 125494959 125494959 single base substitution G C intron_variant BRCA-EU 8 125494959 125494959 single base substitution G C upstream_gene_variant BRCA-EU 8 125496465 125496465 single base substitution G T intron_variant BRCA-EU 8 125496646 125496646 single base substitution G A intron_variant BRCA-EU 8 125496886 125496886 single base substitution G C intron_variant BRCA-EU 8 125497305 125497305 deletion of <=200bp A - intron_variant BRCA-EU 8 125497730 125497730 single base substitution G C intron_variant BRCA-EU 8 125497842 125497842 single base substitution G A intron_variant BRCA-EU 8 125499698 125499698 single base substitution A C downstream_gene_variant BRCA-EU 8 125499698 125499698 single base substitution A C missense_variant N603T 1808A>C BRCA-EU 8 125500100 125500100 single base substitution T C 3_prime_UTR_variant BRCA-EU 8 125500100 125500100 single base substitution T C downstream_gene_variant BRCA-EU 8 125500590 125500590 single base substitution A G downstream_gene_variant BRCA-EU 8 125500728 125500728 single base substitution T C downstream_gene_variant BRCA-EU 8 125500822 125500822 single base substitution A C downstream_gene_variant BRCA-EU 8 125501729 125501729 single base substitution A G downstream_gene_variant BRCA-EU 8 125502472 125502472 single base substitution G A downstream_gene_variant BRCA-EU 8 125502670 125502670 single base substitution G A downstream_gene_variant BRCA-EU 8 125503007 125503007 single base substitution T A downstream_gene_variant BRCA-EU 8 125503876 125503876 single base substitution C T downstream_gene_variant BRCA-EU 8 125504416 125504416 single base substitution A G downstream_gene_variant BRCA-FR 8 125483863 125483863 single base substitution C G upstream_gene_variant BRCA-FR 8 125483905 125483905 single base substitution T A upstream_gene_variant BRCA-FR 8 125487023 125487023 single base substitution G C 5_prime_UTR_variant BRCA-FR 8 125489839 125489839 single base substitution G C intron_variant BRCA-FR 8 125496886 125496886 single base substitution G C intron_variant BRCA-FR 8 125504709 125504709 single base substitution C G downstream_gene_variant BRCA-UK 8 125489454 125489454 single base substitution C T intron_variant BRCA-UK 8 125494959 125494959 single base substitution G C intron_variant BRCA-UK 8 125494959 125494959 single base substitution G C upstream_gene_variant BRCA-UK 8 125499229 125499229 single base substitution G C downstream_gene_variant BRCA-UK 8 125499229 125499229 single base substitution G C missense_variant D447H 1339G>C BRCA-UK 8 125500707 125500707 single base substitution G A downstream_gene_variant BRCA-UK 8 125501547 125501547 single base substitution G A downstream_gene_variant BRCA-US 8 125498103 125498103 single base substitution G C 5_prime_UTR_variant BRCA-US 8 125498103 125498103 single base substitution G C missense_variant L71F 213G>C BRCA-US 8 125498340 125498340 single base substitution C G missense_variant I150M 450C>G BRCA-US 8 125498340 125498340 single base substitution C G missense_variant I23M 69C>G BRCA-US 8 125498596 125498596 single base substitution G A downstream_gene_variant BRCA-US 8 125498596 125498596 single base substitution G A missense_variant D236N 706G>A BTCA-JP 8 125498519 125498519 single base substitution T C downstream_gene_variant BTCA-JP 8 125498519 125498519 single base substitution T C missense_variant L210P 629T>C CESC-US 8 125499264 125499264 single base substitution C G downstream_gene_variant CESC-US 8 125499264 125499264 single base substitution C G missense_variant D458E 1374C>G CLLE-ES 8 125491080 125491080 single base substitution C T intron_variant CLLE-ES 8 125491080 125491080 single base substitution C T upstream_gene_variant CLLE-ES 8 125500754 125500754 single base substitution G A downstream_gene_variant COAD-US 8 125487384 125487384 single base substitution C T missense_variant R12W 34C>T COAD-US 8 125498524 125498524 single base substitution G A downstream_gene_variant COAD-US 8 125498524 125498524 single base substitution G A missense_variant V212M 634G>A COAD-US 8 125498953 125498953 single base substitution A C downstream_gene_variant COAD-US 8 125498953 125498953 single base substitution A C missense_variant N355H 1063A>C COAD-US 8 125499363 125499363 single base substitution G A downstream_gene_variant COAD-US 8 125499363 125499363 single base substitution G A synonymous_variant S491S 1473G>A COAD-US 8 125499529 125499529 single base substitution T C downstream_gene_variant COAD-US 8 125499529 125499529 single base substitution T C missense_variant C547R 1639T>C COAD-US 8 125499566 125499566 deletion of <=200bp G - downstream_gene_variant COAD-US 8 125499566 125499566 deletion of <=200bp G - frameshift_variant R559 COAD-US 8 125499731 125499731 single base substitution C T downstream_gene_variant COAD-US 8 125499731 125499731 single base substitution C T missense_variant P614L 1841C>T COCA-CN 8 125483845 125483845 single base substitution C T upstream_gene_variant COCA-CN 8 125487700 125487700 single base substitution C T intron_variant COCA-CN 8 125491307 125491307 single base substitution C G intron_variant COCA-CN 8 125491307 125491307 single base substitution C G upstream_gene_variant COCA-CN 8 125498196 125498196 single base substitution C T 5_prime_UTR_variant COCA-CN 8 125498196 125498196 single base substitution C T synonymous_variant H102H 306C>T COCA-CN 8 125498313 125498313 single base substitution C T synonymous_variant Y141Y 423C>T COCA-CN 8 125498313 125498313 single base substitution C T synonymous_variant Y14Y 42C>T COCA-CN 8 125498540 125498540 single base substitution G A downstream_gene_variant COCA-CN 8 125498540 125498540 single base substitution G A missense_variant R217Q 650G>A COCA-CN 8 125499059 125499059 single base substitution T G downstream_gene_variant COCA-CN 8 125499059 125499059 single base substitution T G missense_variant F390C 1169T>G COCA-CN 8 125499212 125499212 single base substitution A G downstream_gene_variant COCA-CN 8 125499212 125499212 single base substitution A G missense_variant Y441C 1322A>G COCA-CN 8 125499363 125499363 single base substitution G A downstream_gene_variant COCA-CN 8 125499363 125499363 single base substitution G A synonymous_variant S491S 1473G>A COCA-CN 8 125499903 125499903 single base substitution A G 3_prime_UTR_variant COCA-CN 8 125499903 125499903 single base substitution A G downstream_gene_variant COCA-CN 8 125504255 125504255 single base substitution T G downstream_gene_variant COCA-CN 8 125504256 125504256 single base substitution T C downstream_gene_variant EOPC-DE 8 125500804 125500804 single base substitution T C downstream_gene_variant ESAD-UK 8 125484671 125484671 single base substitution G C upstream_gene_variant ESAD-UK 8 125485242 125485242 single base substitution T C upstream_gene_variant ESAD-UK 8 125486112 125486112 single base substitution G A upstream_gene_variant ESAD-UK 8 125488650 125488650 single base substitution G A intron_variant ESAD-UK 8 125489679 125489679 single base substitution G A intron_variant ESAD-UK 8 125490388 125490388 single base substitution A C intron_variant ESAD-UK 8 125492600 125492600 single base substitution G A intron_variant ESAD-UK 8 125492600 125492600 single base substitution G A upstream_gene_variant ESAD-UK 8 125493541 125493541 single base substitution T C intron_variant ESAD-UK 8 125493541 125493541 single base substitution T C upstream_gene_variant ESAD-UK 8 125495040 125495040 single base substitution A G intron_variant ESAD-UK 8 125495040 125495040 single base substitution A G upstream_gene_variant ESAD-UK 8 125495922 125495922 single base substitution C T intron_variant ESAD-UK 8 125496494 125496494 single base substitution G T intron_variant ESAD-UK 8 125496607 125496607 single base substitution A G intron_variant ESAD-UK 8 125498105 125498105 single base substitution C A 5_prime_UTR_variant ESAD-UK 8 125498105 125498105 single base substitution C A stop_gained S72* 215C>A ESAD-UK 8 125499338 125499338 single base substitution G T downstream_gene_variant ESAD-UK 8 125499338 125499338 single base substitution G T missense_variant G483V 1448G>T ESAD-UK 8 125501067 125501067 single base substitution A G downstream_gene_variant ESAD-UK 8 125501395 125501395 single base substitution G A downstream_gene_variant KIRC-US 8 125498660 125498660 single base substitution T G downstream_gene_variant KIRC-US 8 125498660 125498660 single base substitution T G stop_gained L257* 770T>G KIRC-US 8 125500921 125500921 single base substitution T C downstream_gene_variant KIRP-US 8 125487509 125487509 single base substitution C T synonymous_variant L53L 159C>T LAML-KR 8 125501033 125501033 single base substitution A G downstream_gene_variant LGG-US 8 125498877 125498880 deletion of <=200bp TTTA - downstream_gene_variant LGG-US 8 125498877 125498880 deletion of <=200bp TTTA - frameshift_variant VL329 LIHC-US 8 125487462 125487462 single base substitution T C missense_variant F38L 112T>C LIHC-US 8 125498418 125498418 single base substitution G T missense_variant E176D 528G>T LIHC-US 8 125498418 125498418 single base substitution G T missense_variant E49D 147G>T LINC-JP 8 125483770 125483770 insertion of <=200bp - TG upstream_gene_variant LINC-JP 8 125497305 125497305 deletion of <=200bp A - intron_variant LINC-JP 8 125498426 125498426 single base substitution T G missense_variant L179R 536T>G LINC-JP 8 125498426 125498426 single base substitution T G missense_variant L52R 155T>G LINC-JP 8 125499526 125499526 single base substitution G T downstream_gene_variant LINC-JP 8 125499526 125499526 single base substitution G T missense_variant V546L 1636G>T LINC-JP 8 125503870 125503870 single base substitution A G downstream_gene_variant LIRI-JP 8 125482027 125482027 single base substitution T A upstream_gene_variant LIRI-JP 8 125486176 125486176 single base substitution T C upstream_gene_variant LIRI-JP 8 125488933 125488933 single base substitution C A intron_variant LIRI-JP 8 125489349 125489349 single base substitution T C intron_variant LIRI-JP 8 125489355 125489355 single base substitution G A intron_variant LIRI-JP 8 125490081 125490081 single base substitution A G intron_variant LIRI-JP 8 125490336 125490336 single base substitution A T intron_variant LIRI-JP 8 125492595 125492595 single base substitution A C intron_variant LIRI-JP 8 125492595 125492595 single base substitution A C upstream_gene_variant LIRI-JP 8 125494777 125494777 insertion of <=200bp - T intron_variant LIRI-JP 8 125494777 125494777 insertion of <=200bp - T upstream_gene_variant LIRI-JP 8 125495000 125495000 single base substitution T G intron_variant LIRI-JP 8 125495000 125495000 single base substitution T G upstream_gene_variant LIRI-JP 8 125497438 125497438 single base substitution C T intron_variant LIRI-JP 8 125499017 125499017 insertion of <=200bp - T downstream_gene_variant LIRI-JP 8 125499017 125499017 insertion of <=200bp - T frameshift_variant M376I? LIRI-JP 8 125500657 125500657 single base substitution G T downstream_gene_variant LIRI-JP 8 125502974 125502974 single base substitution T G downstream_gene_variant LIRI-JP 8 125503470 125503470 single base substitution C T downstream_gene_variant LIRI-JP 8 125503572 125503572 single base substitution T G downstream_gene_variant LIRI-JP 8 125503634 125503634 single base substitution T G downstream_gene_variant LIRI-JP 8 125503784 125503784 single base substitution T A downstream_gene_variant LIRI-JP 8 125503788 125503788 single base substitution T C downstream_gene_variant LIRI-JP 8 125504506 125504506 single base substitution A G downstream_gene_variant LUSC-KR 8 125486822 125486822 single base substitution G A upstream_gene_variant LUSC-KR 8 125498606 125498606 single base substitution G C downstream_gene_variant LUSC-KR 8 125498606 125498606 single base substitution G C missense_variant R239P 716G>C LUSC-US 8 125499022 125499022 single base substitution C T downstream_gene_variant LUSC-US 8 125499022 125499022 single base substitution C T missense_variant L378F 1132C>T MALY-DE 8 125484098 125484098 deletion of <=200bp T - upstream_gene_variant MALY-DE 8 125500576 125500576 deletion of <=200bp A - downstream_gene_variant MELA-AU 8 125482335 125482335 single base substitution G A upstream_gene_variant MELA-AU 8 125482680 125482680 single base substitution C T upstream_gene_variant MELA-AU 8 125484462 125484463 multiple base substitution (>=2bp and <=200bp) AC GT upstream_gene_variant MELA-AU 8 125486030 125486031 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 125486956 125486956 single base substitution G A upstream_gene_variant MELA-AU 8 125487778 125487778 single base substitution G A intron_variant MELA-AU 8 125487929 125487929 single base substitution C T intron_variant MELA-AU 8 125488119 125488119 single base substitution C T intron_variant MELA-AU 8 125488541 125488541 single base substitution C T intron_variant MELA-AU 8 125491130 125491130 single base substitution A T intron_variant MELA-AU 8 125491130 125491130 single base substitution A T upstream_gene_variant MELA-AU 8 125492006 125492006 single base substitution C T intron_variant MELA-AU 8 125492006 125492006 single base substitution C T upstream_gene_variant MELA-AU 8 125492054 125492054 single base substitution G A intron_variant MELA-AU 8 125492054 125492054 single base substitution G A upstream_gene_variant MELA-AU 8 125492490 125492490 single base substitution C T intron_variant MELA-AU 8 125492490 125492490 single base substitution C T upstream_gene_variant MELA-AU 8 125493209 125493209 single base substitution T C intron_variant MELA-AU 8 125493209 125493209 single base substitution T C upstream_gene_variant MELA-AU 8 125493835 125493835 single base substitution C T intron_variant MELA-AU 8 125493835 125493835 single base substitution C T upstream_gene_variant MELA-AU 8 125494776 125494776 single base substitution G A intron_variant MELA-AU 8 125494776 125494776 single base substitution G A upstream_gene_variant MELA-AU 8 125495927 125495927 single base substitution T G intron_variant MELA-AU 8 125495929 125495929 single base substitution C T intron_variant MELA-AU 8 125496742 125496742 single base substitution T C intron_variant MELA-AU 8 125497078 125497078 single base substitution G A intron_variant MELA-AU 8 125497656 125497656 single base substitution C T intron_variant MELA-AU 8 125497665 125497665 single base substitution T A intron_variant MELA-AU 8 125497992 125497992 single base substitution A T intron_variant MELA-AU 8 125498189 125498189 single base substitution C T 5_prime_UTR_variant MELA-AU 8 125498189 125498189 single base substitution C T missense_variant S100F 299C>T MELA-AU 8 125498685 125498685 single base substitution C T downstream_gene_variant MELA-AU 8 125498685 125498685 single base substitution C T synonymous_variant S265S 795C>T MELA-AU 8 125498977 125498977 single base substitution G A downstream_gene_variant MELA-AU 8 125498977 125498977 single base substitution G A missense_variant V363I 1087G>A MELA-AU 8 125499683 125499683 single base substitution A T downstream_gene_variant MELA-AU 8 125499683 125499683 single base substitution A T missense_variant N598I 1793A>T MELA-AU 8 125501268 125501268 single base substitution G A downstream_gene_variant MELA-AU 8 125502160 125502160 single base substitution A T downstream_gene_variant MELA-AU 8 125502783 125502783 single base substitution G A downstream_gene_variant MELA-AU 8 125504142 125504142 single base substitution C T downstream_gene_variant ORCA-IN 8 125495918 125495918 single base substitution G A intron_variant ORCA-IN 8 125504234 125504234 single base substitution A T downstream_gene_variant OV-AU 8 125482018 125482018 single base substitution T G upstream_gene_variant OV-AU 8 125483049 125483049 single base substitution C T upstream_gene_variant OV-AU 8 125483071 125483071 single base substitution C G upstream_gene_variant OV-AU 8 125487146 125487146 single base substitution G A 5_prime_UTR_variant OV-AU 8 125488868 125488868 single base substitution C G intron_variant OV-AU 8 125490516 125490516 single base substitution C A intron_variant OV-AU 8 125495195 125495195 single base substitution A T intron_variant OV-AU 8 125495195 125495195 single base substitution A T upstream_gene_variant OV-AU 8 125495720 125495720 single base substitution C T intron_variant OV-AU 8 125495795 125495795 single base substitution C A intron_variant PACA-AU 8 125485552 125485552 single base substitution G A upstream_gene_variant PACA-AU 8 125490801 125490801 single base substitution A T intron_variant PACA-AU 8 125490801 125490801 single base substitution A T upstream_gene_variant PACA-AU 8 125501111 125501111 single base substitution G C downstream_gene_variant PACA-CA 8 125484254 125484254 single base substitution C T upstream_gene_variant PACA-CA 8 125484266 125484266 single base substitution G A upstream_gene_variant PACA-CA 8 125485480 125485480 single base substitution G A upstream_gene_variant PACA-CA 8 125489564 125489564 deletion of <=200bp A - intron_variant PACA-CA 8 125490094 125490094 single base substitution G T intron_variant PACA-CA 8 125490257 125490257 single base substitution G A intron_variant PACA-CA 8 125492659 125492659 single base substitution A G intron_variant PACA-CA 8 125492659 125492659 single base substitution A G upstream_gene_variant PACA-CA 8 125499862 125499862 single base substitution G A downstream_gene_variant PACA-CA 8 125499862 125499862 single base substitution G A missense_variant E658K 1972G>A PACA-CA 8 125500629 125500629 single base substitution T A downstream_gene_variant PACA-CA 8 125500970 125500970 single base substitution C G downstream_gene_variant PAEN-AU 8 125482437 125482437 single base substitution T G upstream_gene_variant PBCA-DE 8 125483786 125483787 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 8 125487726 125487726 single base substitution C G intron_variant PRAD-CA 8 125495182 125495182 single base substitution A T intron_variant PRAD-CA 8 125495182 125495182 single base substitution A T upstream_gene_variant PRAD-CA 8 125495184 125495184 single base substitution A T intron_variant PRAD-CA 8 125495184 125495184 single base substitution A T upstream_gene_variant PRAD-UK 8 125496756 125496756 single base substitution A T intron_variant PRAD-UK 8 125498207 125498207 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK 8 125498207 125498207 single base substitution A G missense_variant Y106C 317A>G PRAD-UK 8 125503597 125503597 single base substitution T C downstream_gene_variant PRAD-UK 8 125503783 125503784 deletion of <=200bp CT - downstream_gene_variant READ-US 8 125498632 125498632 single base substitution G A downstream_gene_variant READ-US 8 125498632 125498632 single base substitution G A missense_variant A248T 742G>A READ-US 8 125499265 125499265 single base substitution G A downstream_gene_variant READ-US 8 125499265 125499265 single base substitution G A missense_variant D459N 1375G>A READ-US 8 125499376 125499376 single base substitution C T downstream_gene_variant READ-US 8 125499376 125499376 single base substitution C T missense_variant R496W 1486C>T RECA-EU 8 125482309 125482309 single base substitution G A upstream_gene_variant RECA-EU 8 125484312 125484312 single base substitution C A upstream_gene_variant RECA-EU 8 125486667 125486667 single base substitution C T upstream_gene_variant RECA-EU 8 125504248 125504248 single base substitution T C downstream_gene_variant SKCA-BR 8 125492972 125492972 single base substitution T G intron_variant SKCA-BR 8 125492972 125492972 single base substitution T G upstream_gene_variant SKCA-BR 8 125495294 125495294 single base substitution C A intron_variant SKCA-BR 8 125495294 125495294 single base substitution C A upstream_gene_variant SKCA-BR 8 125495321 125495323 deletion of <=200bp AAT - intron_variant SKCA-BR 8 125495321 125495323 deletion of <=200bp AAT - upstream_gene_variant SKCA-BR 8 125495337 125495337 single base substitution A T intron_variant SKCA-BR 8 125495337 125495337 single base substitution A T upstream_gene_variant SKCA-BR 8 125495352 125495352 single base substitution A T intron_variant SKCA-BR 8 125495352 125495352 single base substitution A T upstream_gene_variant SKCA-BR 8 125495353 125495353 single base substitution A T intron_variant SKCA-BR 8 125495353 125495353 single base substitution A T upstream_gene_variant SKCA-BR 8 125495354 125495354 single base substitution A T intron_variant SKCA-BR 8 125495354 125495354 single base substitution A T upstream_gene_variant SKCA-BR 8 125504216 125504216 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 8 125504311 125504311 single base substitution G T downstream_gene_variant SKCM-US 8 125498264 125498264 single base substitution C A 5_prime_UTR_variant SKCM-US 8 125498264 125498264 single base substitution C A stop_gained S125* 374C>A SKCM-US 8 125498514 125498514 single base substitution T G downstream_gene_variant SKCM-US 8 125498514 125498514 single base substitution T G synonymous_variant V208V 624T>G SKCM-US 8 125498977 125498977 single base substitution G A downstream_gene_variant SKCM-US 8 125498977 125498977 single base substitution G A missense_variant V363I 1087G>A SKCM-US 8 125499402 125499402 single base substitution A G downstream_gene_variant SKCM-US 8 125499402 125499402 single base substitution A G synonymous_variant A504A 1512A>G STAD-US 8 125498142 125498142 single base substitution A G 5_prime_UTR_variant STAD-US 8 125498142 125498142 single base substitution A G synonymous_variant S84S 252A>G STAD-US 8 125498225 125498225 single base substitution C T 5_prime_UTR_variant STAD-US 8 125498225 125498225 single base substitution C T missense_variant S112L 335C>T STAD-US 8 125498442 125498442 single base substitution G A synonymous_variant L184L 552G>A STAD-US 8 125498442 125498442 single base substitution G A synonymous_variant L57L 171G>A STAD-US 8 125498553 125498554 deletion of <=200bp AC - downstream_gene_variant STAD-US 8 125498553 125498554 deletion of <=200bp AC - frameshift_variant LQ221 STAD-US 8 125499032 125499032 single base substitution C A downstream_gene_variant STAD-US 8 125499032 125499032 single base substitution C A missense_variant S381Y 1142C>A STAD-US 8 125499067 125499067 single base substitution C T downstream_gene_variant STAD-US 8 125499067 125499067 single base substitution C T synonymous_variant L393L 1177C>T STAD-US 8 125499070 125499070 single base substitution T C downstream_gene_variant STAD-US 8 125499070 125499070 single base substitution T C missense_variant F394L 1180T>C STAD-US 8 125499249 125499249 single base substitution C T downstream_gene_variant STAD-US 8 125499249 125499249 single base substitution C T synonymous_variant L453L 1359C>T STAD-US 8 125499257 125499257 single base substitution A T downstream_gene_variant STAD-US 8 125499257 125499257 single base substitution A T missense_variant K456M 1367A>T STAD-US 8 125499620 125499620 single base substitution A G downstream_gene_variant STAD-US 8 125499620 125499620 single base substitution A G missense_variant Y577C 1730A>G THCA-SA 8 125498547 125498547 single base substitution C T downstream_gene_variant THCA-SA 8 125498547 125498547 single base substitution C T synonymous_variant Y219Y 657C>T THCA-SA 8 125500518 125500518 single base substitution A G downstream_gene_variant THCA-US 8 125499517 125499517 single base substitution A G downstream_gene_variant THCA-US 8 125499517 125499517 single base substitution A G missense_variant I543V 1627A>G UCEC-US 8 125487357 125487357 insertion of <=200bp - C frameshift_variant A3R? UCEC-US 8 125498512 125498512 single base substitution G A downstream_gene_variant UCEC-US 8 125498512 125498512 single base substitution G A missense_variant V208I 622G>A UCEC-US 8 125498540 125498540 single base substitution G A downstream_gene_variant UCEC-US 8 125498540 125498540 single base substitution G A missense_variant R217Q 650G>A UCEC-US 8 125498947 125498947 single base substitution A C downstream_gene_variant UCEC-US 8 125498947 125498947 single base substitution A C missense_variant S353R 1057A>C UCEC-US 8 125499280 125499280 single base substitution G A downstream_gene_variant UCEC-US 8 125499280 125499280 single base substitution G A missense_variant V464I 1390G>A UCEC-US 8 125499280 125499280 single base substitution G T downstream_gene_variant UCEC-US 8 125499280 125499280 single base substitution G T missense_variant V464F 1390G>T UCEC-US 8 125499283 125499283 single base substitution C T downstream_gene_variant UCEC-US 8 125499283 125499283 single base substitution C T missense_variant R465C 1393C>T UCEC-US 8 125499376 125499376 single base substitution C T downstream_gene_variant UCEC-US 8 125499376 125499376 single base substitution C T missense_variant R496W 1486C>T UCEC-US 8 125499628 125499628 single base substitution G T downstream_gene_variant UCEC-US 8 125499628 125499628 single base substitution G T missense_variant D580Y 1738G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCT-15 COSM1684152 c.1919_1921delATG p.D640delD Deletion - In frame 8:124487568-124487570 + TCGA-D1-A17Q-01 COSM1095897 c.1738G>T p.D580Y Substitution - Missense 8:124487387-124487387 + SNU-C2B COSM3316348 c.1160G>A p.R387H Substitution - Missense 8:124486809-124486809 + LP6007398-DNA_A01 COSM5951759 c.1448G>T p.G483V Substitution - Missense 8:124487097-124487097 + PCSI_0009_Pa_X COSM3382110 c.1972G>A p.E658K Substitution - Missense 8:124487621-124487621 + PTC-7C COSM4162655 c.657C>T p.Y219Y Substitution - coding silent 8:124486306-124486306 + 1N55-VS-1T55 COSM4977122 c.1719G>A p.R573R Substitution - coding silent 8:124487368-124487368 + 2492706 COSM5716739 c.1952A>T p.H651L Substitution - Missense 8:124487601-124487601 + TCGA-B5-A0JY-01 COSM1095887 c.7_8insC p.V4fs*101 Insertion - Frameshift 8:124475116-124475117 + 2292379 COSM4609932 c.1718G>A p.R573Q Substitution - Missense 8:124487367-124487367 + TCGA-E2-A14V-01 COSM453981 c.706G>A p.D236N Substitution - Missense 8:124486355-124486355 + ESCC_120 COSM5640479 c.137A>G p.Q46R Substitution - Missense 8:124475246-124475246 + TCGA-B5-A0JR-01 COSM1095893 c.1390G>T p.V464F Substitution - Missense 8:124487039-124487039 + T3182 COSM4721988 c.1051C>T p.R351C Substitution - Missense 8:124486700-124486700 + TCGA-AP-A059-01 COSM1095892 c.1390G>A p.V464I Substitution - Missense 8:124487039-124487039 + TCGA-LP-A5U3-01 COSM4850207 c.1374C>G p.D458E Substitution - Missense 8:124487023-124487023 + HCC89 COSM1623581 c.536T>G p.L179R Substitution - Missense 8:124486185-124486185 + ESO-081 COSM203210 c.965G>A p.R322H Substitution - Missense 8:124486614-124486614 + sysucc-1397T COSM5475122 c.306C>T p.H102H Substitution - coding silent 8:124485955-124485955 + T3091 COSM4721986 c.227delT p.F77fs*12 Deletion - Frameshift 8:124485876-124485876 + LUAD-F00368 COSM341515 c.394G>T p.V132F Substitution - Missense 8:124486043-124486043 + TCGA-B5-A11R-01 COSM1095894 c.1393C>T p.R465C Substitution - Missense 8:124487042-124487042 + Pat_41_B COSM5873881 c.349G>A p.E117K Substitution - Missense 8:124485998-124485998 + TCGA-G2-A3VY-01 COSM3778886 c.1524C>G p.I508M Substitution - Missense 8:124487173-124487173 + 3206A7_017_T COSM5041097 c.737T>C p.V246A Substitution - Missense 8:124486386-124486386 + 478 COSM4438993 c.990A>G p.L330L Substitution - coding silent 8:124486639-124486639 + TCGA-AA-3663-01 COSM1454728 c.1639T>C p.C547R Substitution - Missense 8:124487288-124487288 + 2492704 COSM5716739 c.1952A>T p.H651L Substitution - Missense 8:124487601-124487601 + SC_9018 COSM5560365 c.644T>G p.M215R Substitution - Missense 8:124486293-124486293 + LIM2405 COSM4643206 c.106G>A p.A36T Substitution - Missense 8:124475215-124475215 + ESCC-D5 COSM5046334 c.1616G>A p.R539H Substitution - Missense 8:124487265-124487265 + LP6007409-DNA_A01 COSM5953479 c.215C>A p.S72* Substitution - Nonsense 8:124485864-124485864 + 0049_CRUK_PC_0049_T1_DNA COSM1716039 c.317A>G p.Y106C Substitution - Missense 8:124485966-124485966 + ESO-1130 COSM1264342 c.1383C>T p.V461V Substitution - coding silent 8:124487032-124487032 + TCGA-CZ-5451-01 COSM486056 c.770T>G p.L257* Substitution - Nonsense 8:124486419-124486419 + TCGA-AP-A056-01 COSM1095896 c.1486C>T p.R496W Substitution - Missense 8:124487135-124487135 + BK0016 COSM4185959 c.1333A>C p.M445L Substitution - Missense 8:124486982-124486982 + HCT8 COSM3316374 c.1911_1913delTGA p.D640delD Deletion - In frame 8:124487560-124487562 + PTC-28C COSM4162656 c.1879A>C p.R627R Substitution - coding silent 8:124487528-124487528 + ME029T COSM226640 c.1172C>T p.P391L Substitution - Missense 8:124486821-124486821 + Pat_41_B COSM5873882 c.1474G>A p.G492R Substitution - Missense 8:124487123-124487123 + B80-11-Tumor COSM1755559 c.329A>G p.N110S Substitution - Missense 8:124485978-124485978 + PD8978a COSM5792324 c.1808A>C p.N603T Substitution - Missense 8:124487457-124487457 + TCGA-EE-A29C-06 COSM3644941 c.1087G>A p.V363I Substitution - Missense 8:124486736-124486736 + TCGA-AA-3514-01 COSM291488 c.1615C>T p.R539C Substitution - Missense 8:124487264-124487264 + pfg212T COSM4747853 c.663_664delAC p.Q222fs*40 Deletion - Frameshift 8:124486312-124486313 + HCC90T COSM1623582 c.1636G>T p.V546L Substitution - Missense 8:124487285-124487285 + CRC-02T COSM3723388 c.1322A>G p.Y441C Substitution - Missense 8:124486971-124486971 + DLD1 COSM3316374 c.1911_1913delTGA p.D640delD Deletion - In frame 8:124487560-124487562 + TCGA-D1-A17U-01 COSM1095891 c.1352A>C p.N451T Substitution - Missense 8:124487001-124487001 + 3 COSM1716039 c.317A>G p.Y106C Substitution - Missense 8:124485966-124485966 + sysucc-311T COSM5467336 c.1169T>G p.F390C Substitution - Missense 8:124486818-124486818 + HCC2998 COSM3316348 c.1160G>A p.R387H Substitution - Missense 8:124486809-124486809 + Au4 COSM5604713 c.299C>T p.S100F Substitution - Missense 8:124485948-124485948 + 298 COSM3723388 c.1322A>G p.Y441C Substitution - Missense 8:124486971-124486971 + 4095_T COSM3951272 c.1272A>T p.T424T Substitution - coding silent 8:124486921-124486921 + TCGA-A6-6781-01 COSM1454729 c.1676delG p.R559fs*60 Deletion - Frameshift 8:124487325-124487325 + T2269 COSM4721989 c.1159C>T p.R387C Substitution - Missense 8:124486808-124486808 + TCGA-EE-A2MT-06 COSM3644942 c.1512A>G p.A504A Substitution - coding silent 8:124487161-124487161 + T578 COSM3316348 c.1160G>A p.R387H Substitution - Missense 8:124486809-124486809 + B80-11 COSM1755559 c.329A>G p.N110S Substitution - Missense 8:124485978-124485978 + TCGA-AM-5821-01 COSM3763040 c.1473G>A p.S491S Substitution - coding silent 8:124487122-124487122 + 587222 COSM1223900 c.362G>A p.R121Q Substitution - Missense 8:124486011-124486011 + T3724 COSM4721992 c.1732A>G p.I578V Substitution - Missense 8:124487381-124487381 + LUAD-B00859 COSM355680 c.1869T>A p.A623A Substitution - coding silent 8:124487518-124487518 + TCGA-AC-A23H-01 COSM3834020 c.213G>C p.L71F Substitution - Missense 8:124485862-124485862 + TCGA-HU-A4H3-01 COSM3896623 c.1142C>A p.S381Y Substitution - Missense 8:124486791-124486791 + 2492705 COSM5716739 c.1952A>T p.H651L Substitution - Missense 8:124487601-124487601 + TCGA-AC-A23H-01 COSM3834021 c.450C>G p.I150M Substitution - Missense 8:124486099-124486099 + Pat_06_A COSM5873880 c.154G>A p.V52M Substitution - Missense 8:124475263-124475263 + TCGA-EE-A2MS-06 COSM3644940 c.624T>G p.V208V Substitution - coding silent 8:124486273-124486273 + TCGA-BR-6452-01 COSM3896621 c.335C>T p.S112L Substitution - Missense 8:124485984-124485984 + sysucc-657T COSM3763040 c.1473G>A p.S491S Substitution - coding silent 8:124487122-124487122 + TCGA-34-5928-01 COSM749445 c.1132C>T p.L378F Substitution - Missense 8:124486781-124486781 + SNUH_G76_S1 COSM3763040 c.1473G>A p.S491S Substitution - coding silent 8:124487122-124487122 + T2269 COSM4721987 c.764A>G p.Y255C Substitution - Missense 8:124486413-124486413 + TCGA-DK-A2I4-01 COSM3778884 c.102C>G p.I34M Substitution - Missense 8:124475211-124475211 + TCGA-HU-A4H5-01 COSM3896628 c.1730A>G p.Y577C Substitution - Missense 8:124487379-124487379 + TCGA-DD-A3A1-01 COSM4938299 c.528G>T p.E176D Substitution - Missense 8:124486177-124486177 + TCGA-B5-A11H-01 COSM1095888 c.622G>A p.V208I Substitution - Missense 8:124486271-124486271 + HT115 COSM3316320 c.475C>A p.L159I Substitution - Missense 8:124486124-124486124 + TCGA-DK-A2I4-01 COSM3778885 c.177C>G p.L59L Substitution - coding silent 8:124475286-124475286 + TCGA-G4-6302-01 COSM3698823 c.634G>A p.V212M Substitution - Missense 8:124486283-124486283 + YUKAT COSM5408794 c.749C>T p.A250V Substitution - Missense 8:124486398-124486398 + PD2218a COSM28422 c.1337T>A p.I446N Substitution - Missense 8:124486986-124486986 + TCGA-BS-A0TC-01 COSM1095890 c.1057A>C p.S353R Substitution - Missense 8:124486706-124486706 + TCGA-BR-8360-01 COSM3896624 c.1177C>T p.L393L Substitution - coding silent 8:124486826-124486826 + ESCC_25 COSM5626966 c.811G>A p.D271N Substitution - Missense 8:124486460-124486460 + TCGA-AA-A010-01 COSM284616 c.1150T>C p.S384P Substitution - Missense 8:124486799-124486799 + TCGA-EE-A3JH-06 COSM3644939 c.374C>A p.S125* Substitution - Nonsense 8:124486023-124486023 + TCGA-BR-4370-01 COSM3896622 c.552G>A p.L184L Substitution - coding silent 8:124486201-124486201 + 587376 COSM1095889 c.650G>A p.R217Q Substitution - Missense 8:124486299-124486299 + XHDG05 COSM4768413 c.1394G>T p.R465L Substitution - Missense 8:124487043-124487043 + PD4120a COSM164041 c.1339G>C p.D447H Substitution - Missense 8:124486988-124486988 + TCGA-EI-6917-01 COSM3432099 c.1375G>A p.D459N Substitution - Missense 8:124487024-124487024 + T3658 COSM4721990 c.1190C>T p.A397V Substitution - Missense 8:124486839-124486839 + TCGA-CG-5722-01 COSM3896626 c.1359C>T p.L453L Substitution - coding silent 8:124487008-124487008 + TCGA-BR-7715-01 COSM3896627 c.1367A>T p.K456M Substitution - Missense 8:124487016-124487016 + TCGA-AD-6964-01 COSM3698685 c.1841C>T p.P614L Substitution - Missense 8:124487490-124487490 + T2932 COSM4721991 c.1730A>T p.Y577F Substitution - Missense 8:124487379-124487379 + 3N30-VS-3T30 COSM4980586 c.1233G>T p.W411C Substitution - Missense 8:124486882-124486882 + LUAD-NYU284 COSM373352 c.251C>T p.S84L Substitution - Missense 8:124485900-124485900 + TCGA-D1-A0ZO-01 COSM1095895 c.1446T>C p.N482N Substitution - coding silent 8:124487095-124487095 + HCC89T COSM1623581 c.536T>G p.L179R Substitution - Missense 8:124486185-124486185 + LUAD-RT-S01818 COSM384143 c.477C>T p.L159L Substitution - coding silent 8:124486126-124486126 + 587376 COSM1223903 c.439A>C p.I147L Substitution - Missense 8:124486088-124486088 + TCGA-G2-A3VY-01 COSM3778882 c.66C>G p.L22L Substitution - coding silent 8:124475175-124475175 + TCGA-BS-A0UA-01 COSM1095892 c.1390G>A p.V464I Substitution - Missense 8:124487039-124487039 + TCGA-CG-5721-01 COSM3896620 c.252A>G p.S84S Substitution - coding silent 8:124485901-124485901 + C135 COSM4618731 c.1979A>G p.N660S Substitution - Missense 8:124487628-124487628 + HCC90 COSM1623582 c.1636G>T p.V546L Substitution - Missense 8:124487285-124487285 + WA42 COSM241434 c.1565G>A p.R522H Substitution - Missense 8:124487214-124487214 + P53 COSM329015 c.1819T>C p.F607L Substitution - Missense 8:124487468-124487468 + LUAD_E00623 COSM354635 c.57G>T p.W19C Substitution - Missense 8:124475166-124475166 + T166 COSM307548 c.561_562insT p.L188fs*75 Insertion - Frameshift 8:124486210-124486211 + TCGA-EI-6917-01 COSM1095896 c.1486C>T p.R496W Substitution - Missense 8:124487135-124487135 + 587278 COSM1223901 c.1243G>A p.A415T Substitution - Missense 8:124486892-124486892 + TCGA-AU-6004-01 COSM3698822 c.34C>T p.R12W Substitution - Missense 8:124475143-124475143 + MO_1336 COSM5561732 c.511C>T p.P171S Substitution - Missense 8:124486160-124486160 + TCGA-AP-A056-01 COSM1095889 c.650G>A p.R217Q Substitution - Missense 8:124486299-124486299 + TCGA-ES-A2HS-01 COSM4910659 c.112T>C p.F38L Substitution - Missense 8:124475221-124475221 + TCGA-AZ-4315-01 COSM1454725 c.1063A>C p.N355H Substitution - Missense 8:124486712-124486712 + PDA_057 COSM5000962 c.1745G>C p.C582S Substitution - Missense 8:124487394-124487394 + TCGA-DJ-A13U-01 COSM3374764 c.1627A>G p.I543V Substitution - Missense 8:124487276-124487276 + LS411 COSM3316366 c.1537delA p.N514fs*7 Deletion - Frameshift 8:124487186-124487186 + TCGA-G7-A4TM-01 COSM3995851 c.159C>T p.L53L Substitution - coding silent 8:124475268-124475268 + TCGA-CD-A4MG-01 COSM3896625 c.1180T>C p.F394L Substitution - Missense 8:124486829-124486829 + 587336 COSM1223902 c.1205T>C p.L402P Substitution - Missense 8:124486854-124486854 + TCGA-EI-6917-01 COSM3432098 c.742G>A p.A248T Substitution - Missense 8:124486391-124486391 + HCT15 COSM3316374 c.1911_1913delTGA p.D640delD Deletion - In frame 8:124487560-124487562 + YUKAT COSM5408793 c.669A>G p.L223L Substitution - coding silent 8:124486318-124486318 + 587316 COSM1223899 c.1255T>C p.W419R Substitution - Missense 8:124486904-124486904 + TCGA-D1-A16Y-01 COSM1095896 c.1486C>T p.R496W Substitution - Missense 8:124487135-124487135 + TCGA-DK-A2I4-01 COSM3778883 c.78C>G p.L26L Substitution - coding silent 8:124475187-124475187 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.492751 8q24 603046 2422855|dbSNP|BC021571|C/T|non-coding||2384|Candidate; 2422855|dbSNP|BC064636|C/T|non-coding||2380|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S353R c.1057A>C 8 125498947 UCEC A G Missense p.I543V c.1627A>G 8 125499517 THCA A G Synonymous p.A504A c.1512A>G 8 125499402 CM C A Missense p.P235Q c.704C>A 8 125498594 LUAD C G Missense p.I34M c.102C>G 8 125487452 BLCA C G Synonymous p.L26L c.78C>G 8 125487428 BLCA C G Synonymous p.L59L c.177C>G 8 125487527 BLCA CTGTTTGTCTCTGCTTGC - InFrameDeletion p.V395_F400delVSACLF c.1183_1200delGTCTCTGCTTGCCTGTTT 8 125499067 LUAD C T Missense p.L378F c.1132C>T 8 125499022 LUSC C T Missense p.P391L c.1172C>T 8 125499062 CM C T Missense p.R465C c.1393C>T 8 125499283 UCEC C T Missense p.R496W c.1486C>T 8 125499376 UCEC C T Missense p.R539C c.1615C>T 8 125499505 COREAD C T Synonymous p.F266F c.798C>T 8 125498688 LUAD C T Synonymous p.I367I c.1101C>T 8 125498991 HNSC C T Synonymous p.L453L c.1359C>T 8 125499249 STAD C T Synonymous p.V452V c.1356C>T 8 125499246 CM C T Synonymous p.V461V c.1383C>T 8 125499273 ESCA G A Missense p.D236N c.706G>A 8 125498596 BRCA G A Missense p.V208I c.622G>A 8 125498512 UCEC G A Missense p.V363I c.1087G>A 8 125498977 CM G A Synonymous p.E347E c.1041G>A 8 125498931 HNSC G A Synonymous p.L184L c.552G>A 8 125498442 STAD G A Synonymous p.L94L c.282G>A 8 125498172 LUAD G C Missense p.D447H c.1339G>C 8 125499229 BRCA G T Missense p.V464F c.1390G>T 8 125499280 UCEC T C Missense p.F56L c.166T>C 8 125487516 CM T C Synonymous p.S66S c.198T>C 8 125498088 STAD T G Nonsense p.L257* c.770T>G 8 125498660 RCCC T G Synonymous p.V208V c.624T>G 8 125498514 CM TTTA - Frameshift p.L330Ffs*10 c.990_993delATTT 8 125498877 LGG