Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 6 167549924 167549924 + Missense_Mutation SNP T T A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr6:167549924T>A c.206T>A c.(205-207)aTc>aAc p.I69N ACC 6 167550007 167550007 + Missense_Mutation SNP C C G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr6:167550007C>G c.289C>G c.(289-291)Ctt>Gtt p.L97V BLCA 6 167549792 167549792 + Nonsense_Mutation SNP C C G TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr6:167549792C>G c.74C>G c.(73-75)tCa>tGa p.S25* BLCA 6 167550180 167550180 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr6:167550180C>G c.462C>G c.(460-462)ttC>ttG p.F154L BLCA 6 167550264 167550264 + Silent SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 g.chr6:167550264T>G c.546T>G c.(544-546)acT>acG p.T182T BRCA 6 167550465 167550465 + Silent SNP G G A TCGA-B6-A402-01A-11D-A23C-09 TCGA-B6-A402-10A-01D-A23C-09 g.chr6:167550465G>A c.747G>A c.(745-747)agG>agA p.R249R BRCA 6 167550687 167550687 + Missense_Mutation SNP C C G TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 g.chr6:167550687C>G c.969C>G c.(967-969)ttC>ttG p.F323L CESC 6 167550050 167550050 + Missense_Mutation SNP G G T TCGA-C5-A7CG-01A-11D-A32I-09 TCGA-C5-A7CG-10A-01D-A32I-09 g.chr6:167550050G>T c.332G>T c.(331-333)tGg>tTg p.W111L COAD 6 167549867 167549867 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:167549867C>T c.149C>T c.(148-150)cCg>cTg p.P50L COAD 6 167550548 167550548 + Missense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr6:167550548C>T c.830C>T c.(829-831)aCg>aTg p.T277M COAD 6 167550661 167550661 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:167550661C>T c.943C>T c.(943-945)Ctc>Ttc p.L315F COADREAD 6 167549867 167549867 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:167549867C>T c.149C>T c.(148-150)cCg>cTg p.P50L COADREAD 6 167550548 167550548 + Missense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr6:167550548C>T c.830C>T c.(829-831)aCg>aTg p.T277M COADREAD 6 167550661 167550661 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:167550661C>T c.943C>T c.(943-945)Ctc>Ttc p.L315F DLBC 6 167550741 167550741 + Nonsense_Mutation SNP C C A TCGA-FF-8062-01A-11D-2210-10 TCGA-FF-8062-10A-01D-2210-10 g.chr6:167550741C>A c.1023C>A c.(1021-1023)taC>taA p.Y341* ESCA 6 167550105 167550105 + Silent SNP T T C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 g.chr6:167550105T>C c.387T>C c.(385-387)ttT>ttC p.F129F GBM 6 167549965 167549965 + Missense_Mutation SNP G G A TCGA-76-6191-01A-12D-1696-08 TCGA-76-6191-10A-01D-1696-08 g.chr6:167549965G>A c.247G>A c.(247-249)Gtc>Atc p.V83I GBMLGG 6 167549745 167549745 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:167549745C>T c.27C>T c.(25-27)agC>agT p.S9S GBMLGG 6 167549772 167549772 + Nonsense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:167549772T>G c.54T>G c.(52-54)taT>taG p.Y18* GBMLGG 6 167549965 167549965 + Missense_Mutation SNP G G A TCGA-76-6191-01A-12D-1696-08 TCGA-76-6191-10A-01D-1696-08 g.chr6:167549965G>A c.247G>A c.(247-249)Gtc>Atc p.V83I GBMLGG 6 167550306 167550306 + Silent SNP C C T TCGA-FG-A711-01A-21D-A33T-08 TCGA-FG-A711-10A-01D-A33W-08 g.chr6:167550306C>T c.588C>T c.(586-588)gtC>gtT p.V196V GBMLGG 6 167550390 167550390 + Missense_Mutation SNP T T A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 g.chr6:167550390T>A c.672T>A c.(670-672)ttT>ttA p.F224L HNSC 6 167550377 167550377 + Missense_Mutation SNP T T A TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr6:167550377T>A c.659T>A c.(658-660)cTc>cAc p.L220H HNSC 6 167550802 167550802 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 g.chr6:167550802G>A c.1084G>A c.(1084-1086)Gag>Aag p.E362K KIPAN 6 167550763 167550763 + Missense_Mutation SNP G G A TCGA-B0-5081-01A-01D-1462-08 TCGA-B0-5081-11A-01D-1462-08 g.chr6:167550763G>A c.1045G>A c.(1045-1047)Gcc>Acc p.A349T KIRC 6 167550763 167550763 + Missense_Mutation SNP G G A TCGA-B0-5081-01A-01D-1462-08 TCGA-B0-5081-11A-01D-1462-08 g.chr6:167550763G>A c.1045G>A c.(1045-1047)Gcc>Acc p.A349T LGG 6 167549745 167549745 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:167549745C>T c.27C>T c.(25-27)agC>agT p.S9S LGG 6 167549772 167549772 + Nonsense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:167549772T>G c.54T>G c.(52-54)taT>taG p.Y18* LGG 6 167550306 167550306 + Silent SNP C C T TCGA-FG-A711-01A-21D-A33T-08 TCGA-FG-A711-10A-01D-A33W-08 g.chr6:167550306C>T c.588C>T c.(586-588)gtC>gtT p.V196V LGG 6 167550390 167550390 + Missense_Mutation SNP T T A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 g.chr6:167550390T>A c.672T>A c.(670-672)ttT>ttA p.F224L LIHC 6 167549735 167549735 + Missense_Mutation SNP T T C TCGA-2Y-A9GV-01A-11D-A382-10 TCGA-2Y-A9GV-10A-01D-A385-10 g.chr6:167549735T>C c.17T>C c.(16-18)aTg>aCg p.M6T LIHC 6 167549831 167549831 + Missense_Mutation SNP T T C TCGA-CC-A7IG-01A-11D-A33K-10 TCGA-CC-A7IG-10A-01D-A33K-10 g.chr6:167549831T>C c.113T>C c.(112-114)tTg>tCg p.L38S LIHC 6 167550197 167550197 + Missense_Mutation SNP C C A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr6:167550197C>A c.479C>A c.(478-480)aCa>aAa p.T160K LIHC 6 167550283 167550283 + Missense_Mutation SNP T T C TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr6:167550283T>C c.565T>C c.(565-567)Tac>Cac p.Y189H LIHC 6 167550515 167550515 + Missense_Mutation SNP G G A TCGA-RG-A7D4-01A-12D-A33Q-10 TCGA-RG-A7D4-10A-01D-A33Q-10 g.chr6:167550515G>A c.797G>A c.(796-798)tGt>tAt p.C266Y LUAD 6 167549755 167549755 + Missense_Mutation SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr6:167549755G>T c.37G>T c.(37-39)Gac>Tac p.D13Y LUAD 6 167549845 167549845 + Missense_Mutation SNP C C A TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr6:167549845C>A c.127C>A c.(127-129)Cag>Aag p.Q43K LUAD 6 167549852 167549852 + Missense_Mutation SNP C C T TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr6:167549852C>T c.134C>T c.(133-135)tCc>tTc p.S45F LUAD 6 167549989 167549989 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr6:167549989G>C c.271G>C c.(271-273)Gca>Cca p.A91P LUAD 6 167550021 167550021 + Missense_Mutation SNP C C G TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr6:167550021C>G c.303C>G c.(301-303)ttC>ttG p.F101L LUAD 6 167550322 167550322 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 g.chr6:167550322C>A c.604C>A c.(604-606)Cag>Aag p.Q202K LUAD 6 167550348 167550348 + Nonsense_Mutation SNP G G A TCGA-78-7167-01A-11D-2063-08 TCGA-78-7167-11A-01D-2063-08 g.chr6:167550348G>A c.630G>A c.(628-630)tgG>tgA p.W210* LUAD 6 167550481 167550481 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 g.chr6:167550481G>C c.763G>C c.(763-765)Gta>Cta p.V255L LUAD 6 167550839 167550839 + Missense_Mutation SNP T T C TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr6:167550839T>C c.1121T>C c.(1120-1122)aTg>aCg p.M374T LUSC 6 167549917 167549917 + Missense_Mutation SNP G G T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr6:167549917G>T c.199G>T c.(199-201)Gtg>Ttg p.V67L LUSC 6 167550254 167550254 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr6:167550254C>T c.536C>T c.(535-537)tCc>tTc p.S179F LUSC 6 167550498 167550498 + Silent SNP G G T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr6:167550498G>T c.780G>T c.(778-780)gtG>gtT p.V260V LUSC 6 167550795 167550795 + Silent SNP G G A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 g.chr6:167550795G>A c.1077G>A c.(1075-1077)caG>caA p.Q359Q OV 6 167549746 167549746 + Missense_Mutation SNP G G A TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 g.chr6:167549746G>A c.28G>A c.(28-30)Gat>Aat p.D10N PAAD 6 167550300 167550300 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:167550300C>T c.582C>T c.(580-582)agC>agT p.S194S PRAD 6 167550766 167550766 + Missense_Mutation SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 g.chr6:167550766G>A c.1048G>A c.(1048-1050)Ggg>Agg p.G350R SKCM 6 167549829 167549829 + Silent SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr6:167549829C>T c.111C>T c.(109-111)tcC>tcT p.S37S SKCM 6 167549877 167549877 + Silent SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr6:167549877C>T c.159C>T c.(157-159)taC>taT p.Y53Y SKCM 6 167550187 167550187 + Nonsense_Mutation SNP C C T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 g.chr6:167550187C>T c.469C>T c.(469-471)Cga>Tga p.R157* SKCM 6 167550192 167550192 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr6:167550192C>T c.474C>T c.(472-474)tcC>tcT p.S158S SKCM 6 167550408 167550408 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr6:167550408G>A c.690G>A c.(688-690)atG>atA p.M230I SKCM 6 167550570 167550570 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:167550570G>A c.852G>A c.(850-852)atG>atA p.M284I SKCM 6 167550575 167550575 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr6:167550575G>A c.857G>A c.(856-858)cGa>cAa p.R286Q SKCM 6 167550636 167550636 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr6:167550636C>T c.918C>T c.(916-918)ttC>ttT p.F306F SKCM 6 167550831 167550831 + Silent SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr6:167550831C>T c.1113C>T c.(1111-1113)tcC>tcT p.S371S BLCA 3 46449682 46449682 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 g.chr3:46449682G>C c.112G>C c.(112-114)Gcc>Ccc p.A38P BLCA 3 46449919 46449919 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr3:46449919G>A c.349G>A c.(349-351)Gag>Aag p.E117K BLCA 3 46450001 46450001 + Missense_Mutation SNP G G C TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr3:46450001G>C c.431G>C c.(430-432)aGg>aCg p.R144T BLCA 3 46450087 46450087 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr3:46450087C>G c.517C>G c.(517-519)Cag>Gag p.Q173E BRCA 3 46449655 46449655 + Missense_Mutation SNP G G A TCGA-A1-A0SI-01A-11D-A142-09 TCGA-A1-A0SI-10B-01D-A142-09 g.chr3:46449655G>A c.85G>A c.(85-87)Gac>Aac p.D29N BRCA 3 46449777 46449777 + Silent SNP C C G TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr3:46449777C>G c.207C>G c.(205-207)ctC>ctG p.L69L BRCA 3 46450096 46450096 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:46450096G>A c.526G>A c.(526-528)Gac>Aac p.D176N BRCA 3 46450227 46450227 + Silent SNP C C G TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr3:46450227C>G c.657C>G c.(655-657)ctC>ctG p.L219L BRCA 3 46450435 46450435 + Missense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 g.chr3:46450435G>A c.865G>A c.(865-867)Gcc>Acc p.A289T BRCA 3 46450531 46450531 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:46450531A>C c.961A>C c.(961-963)Acc>Ccc p.T321P CESC 3 46450134 46450134 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr3:46450134C>G c.564C>G c.(562-564)ttC>ttG p.F188L COAD 3 46449634 46449634 + Missense_Mutation SNP A A G TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr3:46449634A>G c.64A>G c.(64-66)Agc>Ggc p.S22G COAD 3 46449636 46449636 + Silent SNP C C T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr3:46449636C>T c.66C>T c.(64-66)agC>agT p.S22S COAD 3 46449636 46449636 + Silent SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr3:46449636C>T c.66C>T c.(64-66)agC>agT p.S22S COAD 3 46449636 46449636 + Silent SNP C C T TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr3:46449636C>T c.66C>T c.(64-66)agC>agT p.S22S COAD 3 46449733 46449733 + Missense_Mutation SNP G G T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr3:46449733G>T c.163G>T c.(163-165)Gac>Tac p.D55Y COAD 3 46449857 46449857 + Missense_Mutation SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:46449857A>G c.287A>G c.(286-288)cAt>cGt p.H96R COAD 3 46449867 46449867 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:46449867C>T c.297C>T c.(295-297)ggC>ggT p.G99G COAD 3 46449956 46449956 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:46449956A>G c.386A>G c.(385-387)tAc>tGc p.Y129C COAD 3 46450597 46450597 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:46450597G>A c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K COADREAD 3 46449634 46449634 + Missense_Mutation SNP A A G TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr3:46449634A>G c.64A>G c.(64-66)Agc>Ggc p.S22G COADREAD 3 46449636 46449636 + Silent SNP C C T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr3:46449636C>T c.66C>T c.(64-66)agC>agT p.S22S COADREAD 3 46449636 46449636 + Silent SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr3:46449636C>T c.66C>T c.(64-66)agC>agT p.S22S COADREAD 3 46449636 46449636 + Silent SNP C C T TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr3:46449636C>T c.66C>T c.(64-66)agC>agT p.S22S COADREAD 3 46449733 46449733 + Missense_Mutation SNP G G T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr3:46449733G>T c.163G>T c.(163-165)Gac>Tac p.D55Y COADREAD 3 46449857 46449857 + Missense_Mutation SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:46449857A>G c.287A>G c.(286-288)cAt>cGt p.H96R COADREAD 3 46449867 46449867 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:46449867C>T c.297C>T c.(295-297)ggC>ggT p.G99G COADREAD 3 46449956 46449956 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:46449956A>G c.386A>G c.(385-387)tAc>tGc p.Y129C COADREAD 3 46450597 46450597 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:46450597G>A c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K HNSC 3 46449604 46449604 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:46449604T>A c.34T>A c.(34-36)Tat>Aat p.Y12N HNSC 3 46449784 46449784 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 g.chr3:46449784G>A c.214G>A c.(214-216)Gtg>Atg p.V72M HNSC 3 46449886 46449886 + Missense_Mutation SNP C C T TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr3:46449886C>T c.316C>T c.(316-318)Ctc>Ttc p.L106F LUAD 3 46450106 46450106 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr3:46450106A>T c.536A>T c.(535-537)tAc>tTc p.Y179F LUAD 3 46450373 46450373 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr3:46450373C>G c.803C>G c.(802-804)tCc>tGc p.S268C LUSC 3 46449908 46449908 + Missense_Mutation SNP G G A TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr3:46449908G>A c.338G>A c.(337-339)gGc>gAc p.G113D OV 3 46449636 46449636 + Silent SNP C C T TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 g.chr3:46449636C>T c.66C>T c.(64-66)agC>agT p.S22S PAAD 3 46449860 46449860 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:46449860C>A c.290C>A c.(289-291)gCt>gAt p.A97D PAAD 3 46450274 46450274 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:46450274G>A c.704G>A c.(703-705)aGc>aAc p.S235N PAAD 3 46450404 46450404 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 g.chr3:46450404G>T c.834G>T c.(832-834)ctG>ctT p.L278L PRAD 3 46450522 46450522 + Missense_Mutation SNP C C T TCGA-YL-A8HK-01A-11D-A364-08 TCGA-YL-A8HK-10A-01D-A362-08 g.chr3:46450522C>T c.952C>T c.(952-954)Cgt>Tgt p.R318C SKCM 3 46449597 46449597 + Silent SNP G G A TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr3:46449597G>A c.27G>A c.(25-27)gaG>gaA p.E9E SKCM 3 46449815 46449815 + Missense_Mutation SNP T T C TCGA-ER-A19B-06A-11D-A196-08 TCGA-ER-A19B-10A-01D-A198-08 g.chr3:46449815T>C c.245T>C c.(244-246)gTt>gCt p.V82A SKCM 3 46449977 46449977 + Missense_Mutation SNP G G A TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr3:46449977G>A c.407G>A c.(406-408)gGa>gAa p.G136E SKCM 3 46450193 46450193 + Missense_Mutation SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr3:46450193T>C c.623T>C c.(622-624)gTt>gCt p.V208A SKCM 3 46450225 46450225 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:46450225C>T c.655C>T c.(655-657)Ctc>Ttc p.L219F SKCM 3 46450311 46450311 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:46450311C>T c.741C>T c.(739-741)ttC>ttT p.F247F SKCM 3 46450311 46450311 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr3:46450311C>T c.741C>T c.(739-741)ttC>ttT p.F247F SKCM 3 46450371 46450371 + Missense_Mutation SNP C C A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr3:46450371C>A c.801C>A c.(799-801)ttC>ttA p.F267L SKCM 3 46450373 46450373 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:46450373C>T c.803C>T c.(802-804)tCc>tTc p.S268F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 46450087 46450087 single base substitution C G downstream_gene_variant BLCA-US 3 46450087 46450087 single base substitution C G missense_variant Q173E 517C>G BLCA-US 3 46450087 46450087 single base substitution C G missense_variant Q185E 553C>G BLCA-US 3 46450087 46450087 single base substitution C G upstream_gene_variant BRCA-EU 3 46444545 46444545 single base substitution C T upstream_gene_variant BRCA-EU 3 46444582 46444582 single base substitution A T upstream_gene_variant BRCA-EU 3 46446479 46446479 single base substitution A G upstream_gene_variant BRCA-EU 3 46446961 46446961 single base substitution C A upstream_gene_variant BRCA-EU 3 46447395 46447395 single base substitution C T upstream_gene_variant BRCA-EU 3 46448084 46448084 single base substitution C T upstream_gene_variant BRCA-EU 3 46450646 46450646 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 46450646 46450646 single base substitution T C downstream_gene_variant BRCA-EU 3 46450646 46450646 single base substitution T C upstream_gene_variant BRCA-EU 3 46451917 46451917 single base substitution C A downstream_gene_variant BRCA-EU 3 46451917 46451917 single base substitution C A intron_variant BRCA-EU 3 46454060 46454060 single base substitution C A downstream_gene_variant BRCA-EU 3 46454060 46454060 single base substitution C A exon_variant BRCA-EU 3 46455461 46455461 single base substitution C G downstream_gene_variant BRCA-EU 3 46455471 46455471 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 46455835 46455835 single base substitution G T downstream_gene_variant BRCA-EU 3 46456312 46456312 single base substitution T A downstream_gene_variant BRCA-EU 3 46457036 46457036 single base substitution T A downstream_gene_variant BRCA-EU 3 46457181 46457181 single base substitution C T downstream_gene_variant BRCA-EU 3 46457826 46457826 single base substitution G T downstream_gene_variant BRCA-FR 3 46444545 46444545 single base substitution C T upstream_gene_variant BRCA-FR 3 46447395 46447395 single base substitution C T upstream_gene_variant BRCA-FR 3 46455835 46455835 single base substitution G T downstream_gene_variant BRCA-UK 3 46445650 46445650 single base substitution A G upstream_gene_variant BRCA-US 3 46449655 46449655 single base substitution G A downstream_gene_variant BRCA-US 3 46449655 46449655 single base substitution G A missense_variant D29N 85G>A BRCA-US 3 46449655 46449655 single base substitution G A missense_variant D41N 121G>A BRCA-US 3 46449655 46449655 single base substitution G A upstream_gene_variant BRCA-US 3 46449777 46449777 single base substitution C G downstream_gene_variant BRCA-US 3 46449777 46449777 single base substitution C G synonymous_variant L69L 207C>G BRCA-US 3 46449777 46449777 single base substitution C G synonymous_variant L81L 243C>G BRCA-US 3 46449777 46449777 single base substitution C G upstream_gene_variant BRCA-US 3 46450096 46450096 single base substitution G A downstream_gene_variant BRCA-US 3 46450096 46450096 single base substitution G A missense_variant D176N 526G>A BRCA-US 3 46450096 46450096 single base substitution G A missense_variant D188N 562G>A BRCA-US 3 46450096 46450096 single base substitution G A upstream_gene_variant BRCA-US 3 46450227 46450227 single base substitution C G downstream_gene_variant BRCA-US 3 46450227 46450227 single base substitution C G synonymous_variant L219L 657C>G BRCA-US 3 46450227 46450227 single base substitution C G synonymous_variant L231L 693C>G BRCA-US 3 46450227 46450227 single base substitution C G upstream_gene_variant BRCA-US 3 46450435 46450435 single base substitution G A downstream_gene_variant BRCA-US 3 46450435 46450435 single base substitution G A missense_variant A289T 865G>A BRCA-US 3 46450435 46450435 single base substitution G A missense_variant A301T 901G>A BRCA-US 3 46450435 46450435 single base substitution G A upstream_gene_variant BRCA-US 3 46450531 46450531 single base substitution A C downstream_gene_variant BRCA-US 3 46450531 46450531 single base substitution A C missense_variant T321P 961A>C BRCA-US 3 46450531 46450531 single base substitution A C missense_variant T333P 997A>C BRCA-US 3 46450531 46450531 single base substitution A C upstream_gene_variant CESC-US 3 46450134 46450134 single base substitution C G downstream_gene_variant CESC-US 3 46450134 46450134 single base substitution C G missense_variant F188L 564C>G CESC-US 3 46450134 46450134 single base substitution C G missense_variant F200L 600C>G CESC-US 3 46450134 46450134 single base substitution C G upstream_gene_variant COAD-US 3 46449733 46449733 single base substitution G T downstream_gene_variant COAD-US 3 46449733 46449733 single base substitution G T missense_variant D55Y 163G>T COAD-US 3 46449733 46449733 single base substitution G T missense_variant D67Y 199G>T COAD-US 3 46449733 46449733 single base substitution G T upstream_gene_variant COAD-US 3 46449867 46449867 single base substitution C T downstream_gene_variant COAD-US 3 46449867 46449867 single base substitution C T synonymous_variant G111G 333C>T COAD-US 3 46449867 46449867 single base substitution C T synonymous_variant G99G 297C>T COAD-US 3 46449867 46449867 single base substitution C T upstream_gene_variant COAD-US 3 46449978 46449978 single base substitution A C downstream_gene_variant COAD-US 3 46449978 46449978 single base substitution A C synonymous_variant G136G 408A>C COAD-US 3 46449978 46449978 single base substitution A C synonymous_variant G148G 444A>C COAD-US 3 46449978 46449978 single base substitution A C upstream_gene_variant COAD-US 3 46450070 46450070 single base substitution T A downstream_gene_variant COAD-US 3 46450070 46450070 single base substitution T A missense_variant F167Y 500T>A COAD-US 3 46450070 46450070 single base substitution T A missense_variant F179Y 536T>A COAD-US 3 46450070 46450070 single base substitution T A upstream_gene_variant COAD-US 3 46450597 46450597 single base substitution G A downstream_gene_variant COAD-US 3 46450597 46450597 single base substitution G A missense_variant E343K 1027G>A COAD-US 3 46450597 46450597 single base substitution G A missense_variant E355K 1063G>A COAD-US 3 46450597 46450597 single base substitution G A upstream_gene_variant COCA-CN 3 46449206 46449206 single base substitution C A exon_variant COCA-CN 3 46449206 46449206 single base substitution C A intron_variant COCA-CN 3 46449206 46449206 single base substitution C A upstream_gene_variant COCA-CN 3 46449324 46449324 single base substitution G A exon_variant COCA-CN 3 46449324 46449324 single base substitution G A intron_variant COCA-CN 3 46449324 46449324 single base substitution G A upstream_gene_variant COCA-CN 3 46449909 46449909 single base substitution C T downstream_gene_variant COCA-CN 3 46449909 46449909 single base substitution C T synonymous_variant G113G 339C>T COCA-CN 3 46449909 46449909 single base substitution C T synonymous_variant G125G 375C>T COCA-CN 3 46449909 46449909 single base substitution C T upstream_gene_variant COCA-CN 3 46450190 46450190 single base substitution C T downstream_gene_variant COCA-CN 3 46450190 46450190 single base substitution C T missense_variant S207L 620C>T COCA-CN 3 46450190 46450190 single base substitution C T missense_variant S219L 656C>T COCA-CN 3 46450190 46450190 single base substitution C T upstream_gene_variant COCA-CN 3 46450191 46450191 single base substitution G A downstream_gene_variant COCA-CN 3 46450191 46450191 single base substitution G A synonymous_variant S207S 621G>A COCA-CN 3 46450191 46450191 single base substitution G A synonymous_variant S219S 657G>A COCA-CN 3 46450191 46450191 single base substitution G A upstream_gene_variant COCA-CN 3 46450674 46450674 single base substitution T C 3_prime_UTR_variant COCA-CN 3 46450674 46450674 single base substitution T C downstream_gene_variant COCA-CN 3 46450674 46450674 single base substitution T C upstream_gene_variant EOPC-DE 3 46453084 46453084 single base substitution T C downstream_gene_variant EOPC-DE 3 46453084 46453084 single base substitution T C intron_variant ESAD-UK 3 46444395 46444395 single base substitution C G upstream_gene_variant ESAD-UK 3 46444815 46444815 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 46445414 46445414 single base substitution T C upstream_gene_variant ESAD-UK 3 46451685 46451685 single base substitution C G downstream_gene_variant ESAD-UK 3 46451685 46451685 single base substitution C G intron_variant ESAD-UK 3 46454418 46454418 single base substitution A C downstream_gene_variant ESAD-UK 3 46454418 46454418 single base substitution A C exon_variant ESAD-UK 3 46455100 46455100 deletion of <=200bp T - downstream_gene_variant ESCA-CN 3 46449307 46449307 single base substitution A G exon_variant ESCA-CN 3 46449307 46449307 single base substitution A G intron_variant ESCA-CN 3 46449307 46449307 single base substitution A G upstream_gene_variant ESCA-CN 3 46449919 46449919 single base substitution G C downstream_gene_variant ESCA-CN 3 46449919 46449919 single base substitution G C missense_variant E117Q 349G>C ESCA-CN 3 46449919 46449919 single base substitution G C missense_variant E129Q 385G>C ESCA-CN 3 46449919 46449919 single base substitution G C upstream_gene_variant KIRP-US 3 46449903 46449903 single base substitution C A downstream_gene_variant KIRP-US 3 46449903 46449903 single base substitution C A missense_variant F111L 333C>A KIRP-US 3 46449903 46449903 single base substitution C A missense_variant F123L 369C>A KIRP-US 3 46449903 46449903 single base substitution C A upstream_gene_variant LICA-CN 3 46450230 46450230 single base substitution T C downstream_gene_variant LICA-CN 3 46450230 46450230 single base substitution T C synonymous_variant Y220Y 660T>C LICA-CN 3 46450230 46450230 single base substitution T C synonymous_variant Y232Y 696T>C LICA-CN 3 46450230 46450230 single base substitution T C upstream_gene_variant LICA-FR 3 46448126 46448126 single base substitution T G upstream_gene_variant LICA-FR 3 46449772 46449772 single base substitution G A downstream_gene_variant LICA-FR 3 46449772 46449772 single base substitution G A missense_variant G68R 202G>A LICA-FR 3 46449772 46449772 single base substitution G A missense_variant G80R 238G>A LICA-FR 3 46449772 46449772 single base substitution G A upstream_gene_variant LINC-JP 3 46449573 46449573 single base substitution G A downstream_gene_variant LINC-JP 3 46449573 46449573 single base substitution G A missense_variant M13I 39G>A LINC-JP 3 46449573 46449573 single base substitution G A start_lost M1I 3G>A LINC-JP 3 46449573 46449573 single base substitution G A upstream_gene_variant LIRI-JP 3 46448704 46448704 single base substitution G T 5_prime_UTR_variant LIRI-JP 3 46448704 46448704 single base substitution G T intron_variant LIRI-JP 3 46448704 46448704 single base substitution G T upstream_gene_variant LIRI-JP 3 46450573 46450573 single base substitution A G downstream_gene_variant LIRI-JP 3 46450573 46450573 single base substitution A G missense_variant R335G 1003A>G LIRI-JP 3 46450573 46450573 single base substitution A G missense_variant R347G 1039A>G LIRI-JP 3 46450573 46450573 single base substitution A G upstream_gene_variant LIRI-JP 3 46450948 46450948 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 46450948 46450948 single base substitution G A downstream_gene_variant LIRI-JP 3 46450948 46450948 single base substitution G A upstream_gene_variant LIRI-JP 3 46451221 46451221 single base substitution C T downstream_gene_variant LIRI-JP 3 46451221 46451221 single base substitution C T intron_variant LIRI-JP 3 46452233 46452233 single base substitution T A downstream_gene_variant LIRI-JP 3 46452233 46452233 single base substitution T A intron_variant LIRI-JP 3 46452245 46452245 single base substitution A G downstream_gene_variant LIRI-JP 3 46452245 46452245 single base substitution A G intron_variant LIRI-JP 3 46453429 46453429 single base substitution G A downstream_gene_variant LIRI-JP 3 46453429 46453429 single base substitution G A intron_variant LIRI-JP 3 46455233 46455233 single base substitution A G downstream_gene_variant LIRI-JP 3 46456934 46456934 single base substitution T C downstream_gene_variant LIRI-JP 3 46458474 46458474 single base substitution A G downstream_gene_variant LUSC-KR 3 46450227 46450227 single base substitution C T downstream_gene_variant LUSC-KR 3 46450227 46450227 single base substitution C T synonymous_variant L219L 657C>T LUSC-KR 3 46450227 46450227 single base substitution C T synonymous_variant L231L 693C>T LUSC-KR 3 46450227 46450227 single base substitution C T upstream_gene_variant LUSC-US 3 46449908 46449908 single base substitution G A downstream_gene_variant LUSC-US 3 46449908 46449908 single base substitution G A missense_variant G113D 338G>A LUSC-US 3 46449908 46449908 single base substitution G A missense_variant G125D 374G>A LUSC-US 3 46449908 46449908 single base substitution G A upstream_gene_variant MALY-DE 3 46444152 46444152 single base substitution T C upstream_gene_variant MALY-DE 3 46446871 46446871 single base substitution G A upstream_gene_variant MALY-DE 3 46451951 46451951 single base substitution C T downstream_gene_variant MALY-DE 3 46451951 46451951 single base substitution C T intron_variant MALY-DE 3 46451983 46451983 single base substitution G A downstream_gene_variant MALY-DE 3 46451983 46451983 single base substitution G A intron_variant MALY-DE 3 46453548 46453548 single base substitution G A downstream_gene_variant MALY-DE 3 46453548 46453548 single base substitution G A intron_variant MALY-DE 3 46454007 46454007 single base substitution G A downstream_gene_variant MALY-DE 3 46454007 46454007 single base substitution G A exon_variant MELA-AU 3 46443795 46443795 single base substitution G A upstream_gene_variant MELA-AU 3 46443989 46443989 single base substitution T A upstream_gene_variant MELA-AU 3 46444654 46444654 single base substitution C A upstream_gene_variant MELA-AU 3 46444808 46444808 single base substitution G A upstream_gene_variant MELA-AU 3 46444846 46444846 single base substitution C T upstream_gene_variant MELA-AU 3 46444993 46444993 single base substitution G A upstream_gene_variant MELA-AU 3 46445049 46445049 single base substitution G A upstream_gene_variant MELA-AU 3 46445081 46445081 single base substitution C T upstream_gene_variant MELA-AU 3 46445190 46445190 single base substitution G A upstream_gene_variant MELA-AU 3 46445285 46445285 single base substitution G A upstream_gene_variant MELA-AU 3 46445420 46445420 single base substitution A C upstream_gene_variant MELA-AU 3 46445688 46445688 single base substitution C T upstream_gene_variant MELA-AU 3 46445950 46445950 single base substitution C T upstream_gene_variant MELA-AU 3 46446292 46446292 single base substitution C T upstream_gene_variant MELA-AU 3 46446621 46446621 single base substitution C T upstream_gene_variant MELA-AU 3 46447059 46447059 single base substitution G A upstream_gene_variant MELA-AU 3 46447501 46447501 single base substitution G A upstream_gene_variant MELA-AU 3 46447928 46447928 single base substitution C T upstream_gene_variant MELA-AU 3 46448277 46448277 single base substitution C T upstream_gene_variant MELA-AU 3 46448408 46448408 single base substitution C T upstream_gene_variant MELA-AU 3 46448445 46448445 single base substitution G A upstream_gene_variant MELA-AU 3 46448690 46448690 single base substitution G A 5_prime_UTR_variant MELA-AU 3 46448690 46448690 single base substitution G A intron_variant MELA-AU 3 46448690 46448690 single base substitution G A upstream_gene_variant MELA-AU 3 46448820 46448820 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 46448820 46448820 single base substitution C T intron_variant MELA-AU 3 46448820 46448820 single base substitution C T upstream_gene_variant MELA-AU 3 46449096 46449096 single base substitution A C 5_prime_UTR_variant MELA-AU 3 46449096 46449096 single base substitution A C exon_variant MELA-AU 3 46449096 46449096 single base substitution A C intron_variant MELA-AU 3 46449096 46449096 single base substitution A C upstream_gene_variant MELA-AU 3 46449173 46449173 single base substitution C T exon_variant MELA-AU 3 46449173 46449173 single base substitution C T intron_variant MELA-AU 3 46449173 46449173 single base substitution C T synonymous_variant T4T 12C>T MELA-AU 3 46449173 46449173 single base substitution C T upstream_gene_variant MELA-AU 3 46449464 46449464 single base substitution G A 5_prime_UTR_variant MELA-AU 3 46449464 46449464 single base substitution G A downstream_gene_variant MELA-AU 3 46449464 46449464 single base substitution G A intron_variant MELA-AU 3 46449464 46449464 single base substitution G A upstream_gene_variant MELA-AU 3 46449533 46449533 single base substitution G A 5_prime_UTR_variant MELA-AU 3 46449533 46449533 single base substitution G A downstream_gene_variant MELA-AU 3 46449533 46449533 single base substitution G A intron_variant MELA-AU 3 46449533 46449533 single base substitution G A upstream_gene_variant MELA-AU 3 46449597 46449597 single base substitution G A downstream_gene_variant MELA-AU 3 46449597 46449597 single base substitution G A synonymous_variant E21E 63G>A MELA-AU 3 46449597 46449597 single base substitution G A synonymous_variant E9E 27G>A MELA-AU 3 46449597 46449597 single base substitution G A upstream_gene_variant MELA-AU 3 46449598 46449598 single base substitution G A downstream_gene_variant MELA-AU 3 46449598 46449598 single base substitution G A missense_variant D10N 28G>A MELA-AU 3 46449598 46449598 single base substitution G A missense_variant D22N 64G>A MELA-AU 3 46449598 46449598 single base substitution G A upstream_gene_variant MELA-AU 3 46449633 46449633 single base substitution G A downstream_gene_variant MELA-AU 3 46449633 46449633 single base substitution G A synonymous_variant E21E 63G>A MELA-AU 3 46449633 46449633 single base substitution G A synonymous_variant E33E 99G>A MELA-AU 3 46449633 46449633 single base substitution G A upstream_gene_variant MELA-AU 3 46449786 46449786 single base substitution G A downstream_gene_variant MELA-AU 3 46449786 46449786 single base substitution G A synonymous_variant V72V 216G>A MELA-AU 3 46449786 46449786 single base substitution G A synonymous_variant V84V 252G>A MELA-AU 3 46449786 46449786 single base substitution G A upstream_gene_variant MELA-AU 3 46449977 46449977 single base substitution G A downstream_gene_variant MELA-AU 3 46449977 46449977 single base substitution G A missense_variant G136E 407G>A MELA-AU 3 46449977 46449977 single base substitution G A missense_variant G148E 443G>A MELA-AU 3 46449977 46449977 single base substitution G A upstream_gene_variant MELA-AU 3 46450312 46450312 single base substitution C T downstream_gene_variant MELA-AU 3 46450312 46450312 single base substitution C T missense_variant L248F 742C>T MELA-AU 3 46450312 46450312 single base substitution C T missense_variant L260F 778C>T MELA-AU 3 46450312 46450312 single base substitution C T upstream_gene_variant MELA-AU 3 46450373 46450373 single base substitution C T downstream_gene_variant MELA-AU 3 46450373 46450373 single base substitution C T missense_variant S268F 803C>T MELA-AU 3 46450373 46450373 single base substitution C T missense_variant S280F 839C>T MELA-AU 3 46450373 46450373 single base substitution C T upstream_gene_variant MELA-AU 3 46450374 46450374 single base substitution C T downstream_gene_variant MELA-AU 3 46450374 46450374 single base substitution C T synonymous_variant S268S 804C>T MELA-AU 3 46450374 46450374 single base substitution C T synonymous_variant S280S 840C>T MELA-AU 3 46450374 46450374 single base substitution C T upstream_gene_variant MELA-AU 3 46450698 46450698 single base substitution C T 3_prime_UTR_variant MELA-AU 3 46450698 46450698 single base substitution C T downstream_gene_variant MELA-AU 3 46450698 46450698 single base substitution C T upstream_gene_variant MELA-AU 3 46451116 46451116 single base substitution C T downstream_gene_variant MELA-AU 3 46451116 46451116 single base substitution C T exon_variant MELA-AU 3 46451162 46451162 single base substitution G A downstream_gene_variant MELA-AU 3 46451162 46451162 single base substitution G A exon_variant MELA-AU 3 46451192 46451192 single base substitution G A downstream_gene_variant MELA-AU 3 46451192 46451192 single base substitution G A intron_variant MELA-AU 3 46451209 46451209 single base substitution C T downstream_gene_variant MELA-AU 3 46451209 46451209 single base substitution C T intron_variant MELA-AU 3 46451528 46451528 single base substitution C T downstream_gene_variant MELA-AU 3 46451528 46451528 single base substitution C T intron_variant MELA-AU 3 46451552 46451552 single base substitution C T downstream_gene_variant MELA-AU 3 46451552 46451552 single base substitution C T intron_variant MELA-AU 3 46451588 46451588 single base substitution G A downstream_gene_variant MELA-AU 3 46451588 46451588 single base substitution G A intron_variant MELA-AU 3 46451591 46451591 single base substitution C T downstream_gene_variant MELA-AU 3 46451591 46451591 single base substitution C T intron_variant MELA-AU 3 46451668 46451668 single base substitution G A downstream_gene_variant MELA-AU 3 46451668 46451668 single base substitution G A intron_variant MELA-AU 3 46451708 46451708 single base substitution G A downstream_gene_variant MELA-AU 3 46451708 46451708 single base substitution G A intron_variant MELA-AU 3 46451717 46451717 single base substitution G A downstream_gene_variant MELA-AU 3 46451717 46451717 single base substitution G A intron_variant MELA-AU 3 46451936 46451936 single base substitution C T downstream_gene_variant MELA-AU 3 46451936 46451936 single base substitution C T intron_variant MELA-AU 3 46452004 46452004 single base substitution C T downstream_gene_variant MELA-AU 3 46452004 46452004 single base substitution C T intron_variant MELA-AU 3 46452159 46452159 single base substitution G A downstream_gene_variant MELA-AU 3 46452159 46452159 single base substitution G A intron_variant MELA-AU 3 46452225 46452225 single base substitution G A downstream_gene_variant MELA-AU 3 46452225 46452225 single base substitution G A intron_variant MELA-AU 3 46452400 46452400 single base substitution C T downstream_gene_variant MELA-AU 3 46452400 46452400 single base substitution C T intron_variant MELA-AU 3 46452581 46452581 single base substitution G A downstream_gene_variant MELA-AU 3 46452581 46452581 single base substitution G A intron_variant MELA-AU 3 46452596 46452596 single base substitution G A downstream_gene_variant MELA-AU 3 46452596 46452596 single base substitution G A intron_variant MELA-AU 3 46452821 46452821 single base substitution G A downstream_gene_variant MELA-AU 3 46452821 46452821 single base substitution G A intron_variant MELA-AU 3 46453120 46453120 single base substitution G A downstream_gene_variant MELA-AU 3 46453120 46453120 single base substitution G A intron_variant MELA-AU 3 46453138 46453138 single base substitution C T downstream_gene_variant MELA-AU 3 46453138 46453138 single base substitution C T intron_variant MELA-AU 3 46453198 46453198 single base substitution G A downstream_gene_variant MELA-AU 3 46453198 46453198 single base substitution G A intron_variant MELA-AU 3 46453392 46453392 single base substitution G A downstream_gene_variant MELA-AU 3 46453392 46453392 single base substitution G A intron_variant MELA-AU 3 46453644 46453644 single base substitution A T downstream_gene_variant MELA-AU 3 46453644 46453644 single base substitution A T intron_variant MELA-AU 3 46453717 46453717 single base substitution C T downstream_gene_variant MELA-AU 3 46453717 46453717 single base substitution C T intron_variant MELA-AU 3 46453793 46453793 single base substitution G A downstream_gene_variant MELA-AU 3 46453793 46453793 single base substitution G A intron_variant MELA-AU 3 46453952 46453952 single base substitution G A downstream_gene_variant MELA-AU 3 46453952 46453952 single base substitution G A exon_variant MELA-AU 3 46454139 46454139 single base substitution C T downstream_gene_variant MELA-AU 3 46454139 46454139 single base substitution C T exon_variant MELA-AU 3 46454144 46454144 single base substitution G A downstream_gene_variant MELA-AU 3 46454144 46454144 single base substitution G A exon_variant MELA-AU 3 46454973 46454974 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 46455483 46455483 single base substitution G A downstream_gene_variant MELA-AU 3 46455650 46455650 single base substitution C T downstream_gene_variant MELA-AU 3 46455779 46455779 single base substitution C T downstream_gene_variant MELA-AU 3 46455782 46455782 single base substitution T C downstream_gene_variant MELA-AU 3 46455880 46455880 single base substitution G A downstream_gene_variant MELA-AU 3 46455968 46455968 single base substitution G A downstream_gene_variant MELA-AU 3 46456154 46456154 single base substitution C T downstream_gene_variant MELA-AU 3 46456158 46456158 single base substitution C T downstream_gene_variant MELA-AU 3 46456238 46456238 single base substitution G A downstream_gene_variant MELA-AU 3 46456802 46456802 single base substitution C T downstream_gene_variant MELA-AU 3 46456933 46456933 single base substitution C T downstream_gene_variant MELA-AU 3 46457022 46457022 single base substitution G A downstream_gene_variant MELA-AU 3 46457050 46457050 single base substitution C T downstream_gene_variant MELA-AU 3 46457167 46457167 single base substitution G A downstream_gene_variant MELA-AU 3 46457267 46457267 single base substitution G A downstream_gene_variant MELA-AU 3 46457340 46457340 single base substitution G A downstream_gene_variant MELA-AU 3 46457700 46457700 single base substitution C T downstream_gene_variant MELA-AU 3 46458062 46458062 single base substitution G A downstream_gene_variant ORCA-IN 3 46452287 46452287 single base substitution C T downstream_gene_variant ORCA-IN 3 46452287 46452287 single base substitution C T intron_variant OV-AU 3 46452964 46452964 single base substitution A T downstream_gene_variant OV-AU 3 46452964 46452964 single base substitution A T intron_variant PACA-AU 3 46450901 46450901 single base substitution G A 3_prime_UTR_variant PACA-AU 3 46450901 46450901 single base substitution G A downstream_gene_variant PACA-AU 3 46450901 46450901 single base substitution G A upstream_gene_variant PACA-AU 3 46450902 46450902 single base substitution A T 3_prime_UTR_variant PACA-AU 3 46450902 46450902 single base substitution A T downstream_gene_variant PACA-AU 3 46450902 46450902 single base substitution A T upstream_gene_variant PACA-AU 3 46455089 46455089 single base substitution T G downstream_gene_variant PACA-CA 3 46449337 46449337 single base substitution C T exon_variant PACA-CA 3 46449337 46449337 single base substitution C T intron_variant PACA-CA 3 46449337 46449337 single base substitution C T upstream_gene_variant PACA-CA 3 46450297 46450297 single base substitution A G downstream_gene_variant PACA-CA 3 46450297 46450297 single base substitution A G missense_variant I243V 727A>G PACA-CA 3 46450297 46450297 single base substitution A G missense_variant I255V 763A>G PACA-CA 3 46450297 46450297 single base substitution A G upstream_gene_variant PACA-CA 3 46450548 46450548 single base substitution G A downstream_gene_variant PACA-CA 3 46450548 46450548 single base substitution G A synonymous_variant R326R 978G>A PACA-CA 3 46450548 46450548 single base substitution G A synonymous_variant R338R 1014G>A PACA-CA 3 46450548 46450548 single base substitution G A upstream_gene_variant PACA-CA 3 46450698 46450698 single base substitution C T 3_prime_UTR_variant PACA-CA 3 46450698 46450698 single base substitution C T downstream_gene_variant PACA-CA 3 46450698 46450698 single base substitution C T upstream_gene_variant PACA-CA 3 46451637 46451637 single base substitution G T downstream_gene_variant PACA-CA 3 46451637 46451637 single base substitution G T intron_variant PACA-CA 3 46455349 46455349 single base substitution A T downstream_gene_variant PAEN-AU 3 46450924 46450924 single base substitution G C 3_prime_UTR_variant PAEN-AU 3 46450924 46450924 single base substitution G C downstream_gene_variant PAEN-AU 3 46450924 46450924 single base substitution G C upstream_gene_variant PBCA-DE 3 46448487 46448487 single base substitution G A upstream_gene_variant PBCA-DE 3 46455292 46455292 insertion of <=200bp - A downstream_gene_variant PRAD-CA 3 46451188 46451188 single base substitution T C downstream_gene_variant PRAD-CA 3 46451188 46451188 single base substitution T C intron_variant PRAD-UK 3 46451892 46451892 single base substitution G T downstream_gene_variant PRAD-UK 3 46451892 46451892 single base substitution G T intron_variant PRAD-UK 3 46457394 46457399 deletion of <=200bp CGGGGA - downstream_gene_variant READ-US 3 46449854 46449854 single base substitution C T downstream_gene_variant READ-US 3 46449854 46449854 single base substitution C T missense_variant A107V 320C>T READ-US 3 46449854 46449854 single base substitution C T missense_variant A95V 284C>T READ-US 3 46449854 46449854 single base substitution C T upstream_gene_variant RECA-EU 3 46445820 46445820 single base substitution T C upstream_gene_variant RECA-EU 3 46455507 46455507 single base substitution G A downstream_gene_variant SKCA-BR 3 46443796 46443796 single base substitution G A upstream_gene_variant SKCA-BR 3 46443797 46443797 single base substitution G A upstream_gene_variant SKCA-BR 3 46443813 46443813 single base substitution G A upstream_gene_variant SKCA-BR 3 46444487 46444487 single base substitution G A upstream_gene_variant SKCA-BR 3 46445159 46445159 single base substitution T G upstream_gene_variant SKCA-BR 3 46445788 46445788 insertion of <=200bp - TTC upstream_gene_variant SKCA-BR 3 46447904 46447904 single base substitution G A upstream_gene_variant SKCA-BR 3 46448262 46448262 single base substitution C A upstream_gene_variant SKCA-BR 3 46448318 46448318 single base substitution C T upstream_gene_variant SKCA-BR 3 46449071 46449071 single base substitution A G 5_prime_UTR_variant SKCA-BR 3 46449071 46449071 single base substitution A G exon_variant SKCA-BR 3 46449071 46449071 single base substitution A G intron_variant SKCA-BR 3 46449071 46449071 single base substitution A G upstream_gene_variant SKCA-BR 3 46450311 46450311 single base substitution C T downstream_gene_variant SKCA-BR 3 46450311 46450311 single base substitution C T synonymous_variant F247F 741C>T SKCA-BR 3 46450311 46450311 single base substitution C T synonymous_variant F259F 777C>T SKCA-BR 3 46450311 46450311 single base substitution C T upstream_gene_variant SKCA-BR 3 46450707 46450707 single base substitution G C 3_prime_UTR_variant SKCA-BR 3 46450707 46450707 single base substitution G C downstream_gene_variant SKCA-BR 3 46450707 46450707 single base substitution G C upstream_gene_variant SKCA-BR 3 46450798 46450798 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 46450798 46450798 single base substitution C T downstream_gene_variant SKCA-BR 3 46450798 46450798 single base substitution C T upstream_gene_variant SKCA-BR 3 46450989 46450989 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 46450989 46450989 single base substitution G A downstream_gene_variant SKCA-BR 3 46450989 46450989 single base substitution G A upstream_gene_variant SKCA-BR 3 46451461 46451461 single base substitution T C downstream_gene_variant SKCA-BR 3 46451461 46451461 single base substitution T C intron_variant SKCA-BR 3 46452136 46452136 single base substitution C T downstream_gene_variant SKCA-BR 3 46452136 46452136 single base substitution C T intron_variant SKCA-BR 3 46453007 46453007 single base substitution G A downstream_gene_variant SKCA-BR 3 46453007 46453007 single base substitution G A intron_variant SKCA-BR 3 46453021 46453021 single base substitution G A downstream_gene_variant SKCA-BR 3 46453021 46453021 single base substitution G A intron_variant SKCA-BR 3 46454281 46454281 single base substitution G A downstream_gene_variant SKCA-BR 3 46454281 46454281 single base substitution G A exon_variant SKCA-BR 3 46454730 46454730 single base substitution G A downstream_gene_variant SKCA-BR 3 46455954 46455954 single base substitution C T downstream_gene_variant SKCA-BR 3 46457314 46457314 single base substitution C T downstream_gene_variant SKCA-BR 3 46457397 46457397 single base substitution G A downstream_gene_variant SKCA-BR 3 46457698 46457698 single base substitution A G downstream_gene_variant SKCA-BR 3 46458145 46458145 single base substitution T C downstream_gene_variant SKCM-US 3 46449597 46449597 single base substitution G A downstream_gene_variant SKCM-US 3 46449597 46449597 single base substitution G A synonymous_variant E21E 63G>A SKCM-US 3 46449597 46449597 single base substitution G A synonymous_variant E9E 27G>A SKCM-US 3 46449597 46449597 single base substitution G A upstream_gene_variant SKCM-US 3 46449815 46449815 single base substitution T C downstream_gene_variant SKCM-US 3 46449815 46449815 single base substitution T C missense_variant V82A 245T>C SKCM-US 3 46449815 46449815 single base substitution T C missense_variant V94A 281T>C SKCM-US 3 46449815 46449815 single base substitution T C upstream_gene_variant SKCM-US 3 46449977 46449977 single base substitution G A downstream_gene_variant SKCM-US 3 46449977 46449977 single base substitution G A missense_variant G136E 407G>A SKCM-US 3 46449977 46449977 single base substitution G A missense_variant G148E 443G>A SKCM-US 3 46449977 46449977 single base substitution G A upstream_gene_variant SKCM-US 3 46450193 46450193 single base substitution T C downstream_gene_variant SKCM-US 3 46450193 46450193 single base substitution T C missense_variant V208A 623T>C SKCM-US 3 46450193 46450193 single base substitution T C missense_variant V220A 659T>C SKCM-US 3 46450193 46450193 single base substitution T C upstream_gene_variant SKCM-US 3 46450225 46450225 single base substitution C T downstream_gene_variant SKCM-US 3 46450225 46450225 single base substitution C T missense_variant L219F 655C>T SKCM-US 3 46450225 46450225 single base substitution C T missense_variant L231F 691C>T SKCM-US 3 46450225 46450225 single base substitution C T upstream_gene_variant SKCM-US 3 46450311 46450311 single base substitution C T downstream_gene_variant SKCM-US 3 46450311 46450311 single base substitution C T synonymous_variant F247F 741C>T SKCM-US 3 46450311 46450311 single base substitution C T synonymous_variant F259F 777C>T SKCM-US 3 46450311 46450311 single base substitution C T upstream_gene_variant SKCM-US 3 46450373 46450373 single base substitution C T downstream_gene_variant SKCM-US 3 46450373 46450373 single base substitution C T missense_variant S268F 803C>T SKCM-US 3 46450373 46450373 single base substitution C T missense_variant S280F 839C>T SKCM-US 3 46450373 46450373 single base substitution C T upstream_gene_variant STAD-US 3 46450555 46450555 single base substitution T C downstream_gene_variant STAD-US 3 46450555 46450555 single base substitution T C missense_variant S329P 985T>C STAD-US 3 46450555 46450555 single base substitution T C missense_variant S341P 1021T>C STAD-US 3 46450555 46450555 single base substitution T C upstream_gene_variant UCEC-US 3 46449903 46449903 single base substitution C T downstream_gene_variant UCEC-US 3 46449903 46449903 single base substitution C T synonymous_variant F111F 333C>T UCEC-US 3 46449903 46449903 single base substitution C T synonymous_variant F123F 369C>T UCEC-US 3 46449903 46449903 single base substitution C T upstream_gene_variant UCEC-US 3 46450592 46450592 single base substitution C T downstream_gene_variant UCEC-US 3 46450592 46450592 single base substitution C T missense_variant S341F 1022C>T UCEC-US 3 46450592 46450592 single base substitution C T missense_variant S353F 1058C>T UCEC-US 3 46450592 46450592 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand D28 COSM5544652 c.671G>A p.R224K Substitution - Missense 3:46408750-46408750 + SNU-C4 COSM4653698 c.914G>A p.G305E Substitution - Missense 3:46408993-46408993 + TCGA-BL-A3JM-01 COSM1311808 c.546T>G p.T182T Substitution - coding silent 6:167136776-167136776 + C086 COSM5528325 c.564C>T p.F188F Substitution - coding silent 3:46408643-46408643 + TCGA-AX-A0J0-01 COSM1075942 c.531C>A p.I177I Substitution - coding silent 6:167136761-167136761 + MO_1215 COSM5560384 c.732G>T p.M244I Substitution - Missense 3:46408811-46408811 + RMS106_ COSM4986483 c.620C>T p.S207L Substitution - Missense 3:46408699-46408699 + WA51 COSM239216 c.506T>C p.L169P Substitution - Missense 6:167136736-167136736 + ESCC_BICR_066T COSM5444697 c.158A>G p.Y53C Substitution - Missense 6:167136388-167136388 + HCC098T COSM2854416 c.399G>T p.M133I Substitution - Missense 6:167136629-167136629 + GHE1437 COSM5715193 c.1023C>G p.Y341* Substitution - Nonsense 6:167137253-167137253 + CRC-06T COSM5457051 c.621G>A p.S207S Substitution - coding silent 3:46408700-46408700 + TCGA-B0-5081-01 COSM483677 c.1045G>A p.A349T Substitution - Missense 6:167137275-167137275 + TCGA-GN-A269-01 COSM3622813 c.663T>C p.F221F Substitution - coding silent 6:167136893-167136893 + TCGA-14-1037 COSM2155292 c.435C>T p.I145I Substitution - coding silent 6:167136665-167136665 + RD COSM3760122 c.500T>A p.F167Y Substitution - Missense 3:46408579-46408579 + YUKSI COSM1423400 c.1027G>A p.E343K Substitution - Missense 3:46409106-46409106 + TCGA-A8-A0A6-01 COSM3823974 c.961A>C p.T321P Substitution - Missense 3:46409040-46409040 + ESCC_143 COSM5644410 c.69T>A p.N23K Substitution - Missense 6:167136299-167136299 + 40M COSM5584730 c.74C>T p.S25L Substitution - Missense 6:167136304-167136304 + TCGA-EB-A3Y7-01 COSM3622816 c.1072C>T p.R358W Substitution - Missense 6:167137302-167137302 + TCGA-NH-A5IV-01 COSM5184230 c.239T>G p.M80R Substitution - Missense 6:167136469-167136469 + TCGA-DM-A1HA-01 COSM1423396 c.163G>T p.D55Y Substitution - Missense 3:46408242-46408242 + 387 COSM4427330 c.701A>G p.Y234C Substitution - Missense 6:167136931-167136931 + TCGA-AC-A23H-01 COSM3823973 c.526G>A p.D176N Substitution - Missense 3:46408605-46408605 + 2521259 COSM5889901 c.560C>T p.P187L Substitution - Missense 3:46408639-46408639 + DLD1 COSM4625721 c.537C>T p.S179S Substitution - coding silent 6:167136767-167136767 + T16 COSM5345103 c.704C>T p.T235M Substitution - Missense 6:167136934-167136934 + TCGA-AX-A0J0-01 COSM1045279 c.333C>T p.F111F Substitution - coding silent 3:46408412-46408412 + sysucc-311T COSM4986483 c.620C>T p.S207L Substitution - Missense 3:46408699-46408699 + RMS105_ COSM3760122 c.500T>A p.F167Y Substitution - Missense 3:46408579-46408579 + TCGA-D1-A103-01 COSM1075938 c.132C>A p.F44L Substitution - Missense 6:167136362-167136362 + RMS80_ COSM3760122 c.500T>A p.F167Y Substitution - Missense 3:46408579-46408579 + TCGA-CC-A7IG-01 COSM4942943 c.113T>C p.L38S Substitution - Missense 6:167136343-167136343 + TCGA-B5-A0JY-01 COSM1075940 c.470G>A p.R157Q Substitution - Missense 6:167136700-167136700 + TCGA-EE-A2MJ-06 COSM3622812 c.474C>T p.S158S Substitution - coding silent 6:167136704-167136704 + TCGA-EE-A3J5-06 COSM3622814 c.690G>A p.M230I Substitution - Missense 6:167136920-167136920 + TCGA-RG-A7D4-01 COSM4918770 c.797G>A p.C266Y Substitution - Missense 6:167137027-167137027 + TCGA-AM-5820-01 COSM3761658 c.57T>C p.F19F Substitution - coding silent 6:167136287-167136287 + SNUH_G16_S1 COSM3683127 c.500T>G p.F167C Substitution - Missense 3:46408579-46408579 + YUOTHO COSM5399449 c.600G>A p.L200L Substitution - coding silent 3:46408679-46408679 + EV001-R8 COSM1161854 c.721T>A p.L241M Substitution - Missense 6:167136951-167136951 + TCGA-G2-A2EL-01 COSM1309170 c.431G>C p.R144T Substitution - Missense 3:46408510-46408510 + J90_T COSM3945515 c.657C>T p.L219L Substitution - coding silent 3:46408736-46408736 + TCGA-EE-A29L-06 COSM3622817 c.1113C>T p.S371S Substitution - coding silent 6:167137343-167137343 + TCGA-EE-A2GI-06 COSM3622808 c.111C>T p.S37S Substitution - coding silent 6:167136341-167136341 + TCGA-AC-A5XS-01 COSM4391131 c.657C>G p.L219L Substitution - coding silent 3:46408736-46408736 + EV001-M2b COSM1161854 c.721T>A p.L241M Substitution - Missense 6:167136951-167136951 + TCGA-AP-A0LM-01 COSM1045281 c.1022C>T p.S341F Substitution - Missense 3:46409101-46409101 + Pat_14_A COSM1423400 c.1027G>A p.E343K Substitution - Missense 3:46409106-46409106 + CSCC-42-T COSM4551088 c.518G>A p.G173E Substitution - Missense 6:167136748-167136748 + CSCC-55-T COSM1045281 c.1022C>T p.S341F Substitution - Missense 3:46409101-46409101 + TCGA-AZ-4615-01 COSM3761657 c.27C>T p.S9S Substitution - coding silent 6:167136257-167136257 + TCGA-D3-A3MV-06 COSM3594521 c.623T>C p.V208A Substitution - Missense 3:46408702-46408702 + CSCC-56-T COSM4519582 c.1017G>A p.R339R Substitution - coding silent 6:167137247-167137247 + PCSI_0122_Pa_X COSM5420059 c.727A>G p.I243V Substitution - Missense 3:46408806-46408806 + 001 COSM1161854 c.721T>A p.L241M Substitution - Missense 6:167136951-167136951 + pfg008T COSM4754316 c.14C>T p.T5M Substitution - Missense 3:46408093-46408093 + TCGA-AA-A010-01 COSM279693 c.943C>T p.L315F Substitution - Missense 6:167137173-167137173 + STC252 COSM5061634 c.816G>T p.M272I Substitution - Missense 6:167137046-167137046 + TCGA-AC-A5XS-01 COSM4391057 c.207C>G p.L69L Substitution - coding silent 3:46408286-46408286 + TCGA-ED-A4XI-01 COSM4913185 c.565T>C p.Y189H Substitution - Missense 6:167136795-167136795 + TCGA-CG-5728-01 COSM3860400 c.150G>A p.P50P Substitution - coding silent 6:167136380-167136380 + 116T COSM1725021 c.53_54insT p.V20fs*11 Insertion - Frameshift 6:167136283-167136284 + EV001-M2a COSM1161854 c.721T>A p.L241M Substitution - Missense 6:167136951-167136951 + HCC159T COSM2854416 c.399G>T p.M133I Substitution - Missense 6:167136629-167136629 + TCGA-B9-4114-01 COSM3993100 c.333C>A p.F111L Substitution - Missense 3:46408412-46408412 + BD72T COSM5512348 c.1046C>A p.A349D Substitution - Missense 6:167137276-167137276 + Au4 COSM5603108 c.63G>A p.E21E Substitution - coding silent 3:46408142-46408142 + TCGA-46-6025-01 COSM730755 c.338G>A p.G113D Substitution - Missense 3:46408417-46408417 + TCGA-AM-5821-01 COSM3760122 c.500T>A p.F167Y Substitution - Missense 3:46408579-46408579 + TCGA-14-1037 COSM2155309 c.427C>T p.R143W Substitution - Missense 6:167136657-167136657 + RMS111_ COSM3760122 c.500T>A p.F167Y Substitution - Missense 3:46408579-46408579 + TCGA-NH-A5IV-01 COSM5184231 c.393C>T p.C131C Substitution - coding silent 6:167136623-167136623 + MedB-1 COSM5620446 c.601A>G p.T201A Substitution - Missense 3:46408680-46408680 + KYSE-410 COSM3068142 c.634C>T p.P212S Substitution - Missense 3:46408713-46408713 + 3402_T COSM741159 c.1077G>A p.Q359Q Substitution - coding silent 6:167137307-167137307 + 35M COSM5580564 c.833C>T p.A278V Substitution - Missense 6:167137063-167137063 + BD6T COSM5498945 c.1106C>T p.A369V Substitution - Missense 6:167137336-167137336 + TCGA-DA-A1HY-06 COSM3622809 c.159C>T p.Y53Y Substitution - coding silent 6:167136389-167136389 + TCGA-A1-A0SI-01 COSM1485222 c.85G>A p.D29N Substitution - Missense 3:46408164-46408164 + CSCC-7-T COSM4564132 c.1016_1017GG>AA p.R339K Substitution - Missense 6:167137246-167137247 + KYSE-30 COSM4324568 c.671G>C p.R224T Substitution - Missense 3:46408750-46408750 + RK143_C01 COSM3702943 c.458C>T p.S153L Substitution - Missense 6:167136688-167136688 + RMS109_ COSM3760122 c.500T>A p.F167Y Substitution - Missense 3:46408579-46408579 + ESCC_4 COSM5622990 c.329C>T p.A110V Substitution - Missense 6:167136559-167136559 + TCGA-ER-A19B-06 COSM3594520 c.245T>C p.V82A Substitution - Missense 3:46408324-46408324 + TCGA-BS-A0TA-01 COSM1075947 c.927C>T p.C309C Substitution - coding silent 6:167137157-167137157 + EV001-R4 COSM1161854 c.721T>A p.L241M Substitution - Missense 6:167136951-167136951 + CSCC-27-T COSM4557395 c.690G>A p.R230R Substitution - coding silent 3:46408769-46408769 + TCGA-BS-A0UV-01 COSM1075943 c.583G>A p.D195N Substitution - Missense 6:167136813-167136813 + TCGA-18-3409-01 COSM741161 c.536C>T p.S179F Substitution - Missense 6:167136766-167136766 + TCGA-B6-A402-01 COSM4391719 c.747G>A p.R249R Substitution - coding silent 6:167136977-167136977 + TP_2032 COSM5561274 c.251A>G p.N84S Substitution - Missense 3:46408330-46408330 + COLO-205 COSM1672971 c.25A>G p.S9G Substitution - Missense 6:167136255-167136255 + COLO201 COSM1672971 c.25A>G p.S9G Substitution - Missense 6:167136255-167136255 + TCGA-EE-A3JD-06 COSM4394407 c.655C>T p.L219F Substitution - Missense 3:46408734-46408734 + TCGA-EE-A29E-06 COSM3594523 c.803C>T p.S268F Substitution - Missense 3:46408882-46408882 + 587238 COSM1200196 c.952C>T p.R318C Substitution - Missense 3:46409031-46409031 + CSCC-55-T COSM4456958 c.1028C>T p.S343F Substitution - Missense 6:167137258-167137258 + 19 COSM5746674 c.451A>G p.T151A Substitution - Missense 6:167136681-167136681 + Pat_26_A COSM4986483 c.620C>T p.S207L Substitution - Missense 3:46408699-46408699 + 61 COSM5737839 c.118G>T p.E40* Substitution - Nonsense 6:167136348-167136348 + TCGA-A6-2686-01 COSM1075947 c.927C>T p.C309C Substitution - coding silent 6:167137157-167137157 + HCC031T COSM5807813 c.660T>C p.Y220Y Substitution - coding silent 3:46408739-46408739 + TCGA-EB-A41A-01 COSM3622810 c.199G>A p.V67M Substitution - Missense 6:167136429-167136429 + CSCC-56-T COSM1471900 c.1048G>A p.G350R Substitution - Missense 6:167137278-167137278 + RMS85_ COSM3760122 c.500T>A p.F167Y Substitution - Missense 3:46408579-46408579 + CSCC-55-T COSM4457232 c.1001C>T p.S334L Substitution - Missense 3:46409080-46409080 + SCMC_RM2_ COSM3760122 c.500T>A p.F167Y Substitution - Missense 3:46408579-46408579 + CHC892T COSM4537186 c.202G>A p.G68R Substitution - Missense 3:46408281-46408281 + C70 COSM4619560 c.447C>A p.I149I Substitution - coding silent 3:46408526-46408526 + EV001-R3 COSM1161854 c.721T>A p.L241M Substitution - Missense 6:167136951-167136951 + TCGA-AA-3977-01 COSM5119805 c.990C>A p.I330I Substitution - coding silent 6:167137220-167137220 + TCGA-BS-A0UV-01 COSM1075941 c.498C>A p.I166I Substitution - coding silent 6:167136728-167136728 + TCGA-13-0795-01 COSM74060 c.28G>A p.D10N Substitution - Missense 6:167136258-167136258 + ESCC_BICR_001T COSM350876 c.349G>C p.E117Q Substitution - Missense 3:46408428-46408428 + PT52 COSM5939492 c.179G>A p.G60D Substitution - Missense 6:167136409-167136409 + EGC15 COSM5059753 c.864C>T p.I288I Substitution - coding silent 3:46408943-46408943 + TCGA-D8-A1JL-01 COSM1485223 c.865G>A p.A289T Substitution - Missense 3:46408944-46408944 + 587376 COSM1200197 c.269C>T p.T90I Substitution - Missense 3:46408348-46408348 + PCSI_0079_Pa_P COSM3381520 c.718A>T p.T240S Substitution - Missense 6:167136948-167136948 + TCGA-CD-8531-01 COSM3860401 c.1005G>A p.W335* Substitution - Nonsense 6:167137235-167137235 + AOCS-139-19-0 COSM4149267 c.759C>G p.I253M Substitution - Missense 6:167136989-167136989 + YUFIT COSM5404788 c.848A>T p.K283I Substitution - Missense 6:167137078-167137078 + TCGA-H9-7775-01 COSM1471900 c.1048G>A p.G350R Substitution - Missense 6:167137278-167137278 + KYSE-140 COSM2854404 c.36C>T p.F12F Substitution - coding silent 6:167136266-167136266 + TCGA-B5-A0JY-01 COSM1075939 c.372C>A p.I124I Substitution - coding silent 6:167136602-167136602 + TCGA-FW-A3R5-06 COSM3594522 c.741C>T p.F247F Substitution - coding silent 3:46408820-46408820 + TCGA-A2-A4RW-01 COSM3829649 c.969C>G p.F323L Substitution - Missense 6:167137199-167137199 + CSCC-11-T COSM4570945 c.315T>G p.I105M Substitution - Missense 3:46408394-46408394 + TCGA-DM-A1HB-01 COSM1075945 c.830C>T p.T277M Substitution - Missense 6:167137060-167137060 + EV001-R5 COSM1161854 c.721T>A p.L241M Substitution - Missense 6:167136951-167136951 + PT37 COSM5918013 c.1025C>T p.T342I Substitution - Missense 3:46409104-46409104 + 2492706 COSM5716729 c.498C>T p.I166I Substitution - coding silent 6:167136728-167136728 + CSCC-62-T COSM4476590 c.171C>T p.L57L Substitution - coding silent 3:46408250-46408250 + CML034T COSM5803155 c.1088C>T p.T363I Substitution - Missense 6:167137318-167137318 + ESCC-002T COSM3941635 c.1016G>T p.R339M Substitution - Missense 6:167137246-167137246 + PDA_050 COSM5000691 c.502G>A p.V168M Substitution - Missense 3:46408581-46408581 + TCGA-AZ-4315-01 COSM1423398 c.297C>T p.G99G Substitution - coding silent 3:46408376-46408376 + TCGA-IR-A3LK-01 COSM4817682 c.564C>G p.F188L Substitution - Missense 3:46408643-46408643 + CN-AML-NR-08-Dx COSM3761658 c.57T>C p.F19F Substitution - coding silent 6:167136287-167136287 + YURUS COSM1698278 c.266C>T p.A89V Substitution - Missense 6:167136496-167136496 + LUAD-E00918 COSM365364 c.1110G>T p.S370S Substitution - coding silent 6:167137340-167137340 + TCGA-D1-A103-01 COSM74060 c.28G>A p.D10N Substitution - Missense 6:167136258-167136258 + SW48 COSM2854428 c.1089C>A p.T363T Substitution - coding silent 6:167137319-167137319 + T578 COSM4670290 c.891G>A p.T297T Substitution - coding silent 6:167137121-167137121 + C608 COSM4442963 c.373A>C p.T125P Substitution - Missense 3:46408452-46408452 + TCGA-EE-A2MM-06 COSM3594519 c.27G>A p.E9E Substitution - coding silent 3:46408106-46408106 + T1180 COSM1075943 c.583G>A p.D195N Substitution - Missense 6:167136813-167136813 + TCGA-66-2791-01 COSM741162 c.199G>T p.V67L Substitution - Missense 6:167136429-167136429 + TCGA-D1-A174-01 COSM1075944 c.705G>A p.T235T Substitution - coding silent 6:167136935-167136935 + TCGA-G4-6320-01 COSM3697670 c.1110G>A p.S370S Substitution - coding silent 6:167137340-167137340 + AOCS-139-6-3 COSM4149267 c.759C>G p.I253M Substitution - Missense 6:167136989-167136989 + TCGA-23-1028-01 COSM82055 c.66C>T p.S22S Substitution - coding silent 3:46408145-46408145 + HCC174 COSM3660574 c.3G>A p.M1I Substitution - Missense 3:46408082-46408082 + TCGA-ER-A193-06 COSM3622815 c.918C>T p.F306F Substitution - coding silent 6:167137148-167137148 + LUAD-YINHD COSM350876 c.349G>C p.E117Q Substitution - Missense 3:46408428-46408428 + CSCC-62-T COSM4537186 c.202G>A p.G68R Substitution - Missense 3:46408281-46408281 + TCGA-GN-A265-06 COSM3594522 c.741C>T p.F247F Substitution - coding silent 3:46408820-46408820 + YUFERY COSM5404787 c.52T>A p.Y18N Substitution - Missense 6:167136282-167136282 + YUOMEGA COSM5404786 c.18G>A p.M6I Substitution - Missense 6:167136248-167136248 + KYSE-150 COSM2854416 c.399G>T p.M133I Substitution - Missense 6:167136629-167136629 + 2492705 COSM5716729 c.498C>T p.I166I Substitution - coding silent 6:167136728-167136728 + 2492704 COSM5716729 c.498C>T p.I166I Substitution - coding silent 6:167136728-167136728 + TCGA-BT-A20J-01 COSM419995 c.517C>G p.Q173E Substitution - Missense 3:46408596-46408596 + YUFERY COSM1423400 c.1027G>A p.E343K Substitution - Missense 3:46409106-46409106 + COLO205 COSM1672971 c.25A>G p.S9G Substitution - Missense 6:167136255-167136255 + TCGA-CA-6717-01 COSM1423400 c.1027G>A p.E343K Substitution - Missense 3:46409106-46409106 + EV001-R1 COSM1161854 c.721T>A p.L241M Substitution - Missense 6:167136951-167136951 + TCGA-EE-A2MG-06 COSM3622811 c.469C>T p.R157* Substitution - Nonsense 6:167136699-167136699 + TCGA-F5-6814-01 COSM3427649 c.284C>T p.A95V Substitution - Missense 3:46408363-46408363 + TCGA-GF-A6C9-06 COSM4901214 c.852G>A p.M284I Substitution - Missense 6:167137082-167137082 + J30_T COSM3948774 c.1107G>T p.A369A Substitution - coding silent 6:167137337-167137337 + RMS88_ COSM3760122 c.500T>A p.F167Y Substitution - Missense 3:46408579-46408579 + TCGA-UB-A7MB-01 COSM4930686 c.479C>A p.T160K Substitution - Missense 6:167136709-167136709 + B80 COSM1754649 c.782T>C p.L261P Substitution - Missense 6:167137012-167137012 + pfg181T COSM4763422 c.856C>T p.R286* Substitution - Nonsense 6:167137086-167137086 + EV001-M1 COSM1161854 c.721T>A p.L241M Substitution - Missense 6:167136951-167136951 + TCGA-18-3421-01 COSM741160 c.780G>T p.V260V Substitution - coding silent 6:167137010-167137010 + LUAD-B02077 COSM335236 c.188G>T p.G63V Substitution - Missense 6:167136418-167136418 + TCGA-AA-A010-01 COSM279692 c.149C>T p.P50L Substitution - Missense 6:167136379-167136379 + 090T COSM1731321 c.240G>T p.M80I Substitution - Missense 6:167136470-167136470 + TCGA-AM-5821-01 COSM3760121 c.408A>C p.G136G Substitution - coding silent 3:46408487-46408487 + TCGA-D1-A103-01 COSM1075946 c.857G>A p.R286Q Substitution - Missense 6:167137087-167137087 + T578 COSM4670289 c.878T>G p.L293R Substitution - Missense 6:167137108-167137108 + T578 COSM2854410 c.174C>T p.V58V Substitution - coding silent 6:167136404-167136404 + HCC174T COSM3660574 c.3G>A p.M1I Substitution - Missense 3:46408082-46408082 + ASHPC_0009_Pa_P COSM3781820 c.978G>A p.R326R Substitution - coding silent 3:46409057-46409057 + TCGA-B5-A0K9-01 COSM1075945 c.830C>T p.T277M Substitution - Missense 6:167137060-167137060 + RMS110_ COSM3760122 c.500T>A p.F167Y Substitution - Missense 3:46408579-46408579 + CHC892T COSM4537186 c.202G>A p.G68R Substitution - Missense 3:46408281-46408281 + TCGA-G3-A7M7-01 COSM4929893 c.720C>T p.T240T Substitution - coding silent 6:167136950-167136950 + TCGA-EE-A2MF-06 COSM4893265 c.407G>A p.G136E Substitution - Missense 3:46408486-46408486 + S01861 COSM5671415 c.1058C>A p.S353* Substitution - Nonsense 6:167137288-167137288 + TCGA-BR-8487-01 COSM4117888 c.985T>C p.S329P Substitution - Missense 3:46409064-46409064 + TCGA-AP-A0LM-01 COSM1075939 c.372C>A p.I124I Substitution - coding silent 6:167136602-167136602 + SNU-C4 COSM4654055 c.859T>C p.S287P Substitution - Missense 6:167137089-167137089 + B80-Tumor COSM1754649 c.782T>C p.L261P Substitution - Missense 6:167137012-167137012 + sysucc-880T COSM5463266 c.339C>T p.G113G Substitution - coding silent 3:46408418-46408418 + TCGA-22-5485-01 COSM741159 c.1077G>A p.Q359Q Substitution - coding silent 6:167137307-167137307 + LUAD-B02594 COSM336734 c.621G>T p.S207S Substitution - coding silent 3:46408700-46408700 + RK190_C01 COSM3767450 c.1003A>G p.R335G Substitution - Missense 3:46409082-46409082 + EV001-R2 COSM1161854 c.721T>A p.L241M Substitution - Missense 6:167136951-167136951 + LS513 COSM3068131 c.47T>C p.I16T Substitution - Missense 3:46408126-46408126 + PA090 COSM1162412 c.539G>A p.S180N Substitution - Missense 6:167136769-167136769 + RMS10_ COSM3760122 c.500T>A p.F167Y Substitution - Missense 3:46408579-46408579 + TCGA-AA-A02R-01 COSM5127501 c.525A>T p.S175S Substitution - coding silent 6:167136755-167136755 + CN-AML-08-T COSM3761658 c.57T>C p.F19F Substitution - coding silent 6:167136287-167136287 + EV001-R9 COSM1161854 c.721T>A p.L241M Substitution - Missense 6:167136951-167136951 + CSCC-10-T COSM4459054 c.110C>T p.S37F Substitution - Missense 6:167136340-167136340 + 19M COSM4457232 c.1001C>T p.S334L Substitution - Missense 3:46409080-46409080 + sysucc-783T COSM5484823 c.330G>A p.A110A Substitution - coding silent 6:167136560-167136560 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.46468 6q27 601835 Hs.535713 3p21 608379 2421859|CGAP|BC025717|A/T|non-coding||1506|Validated; 2421859|CGAP|BC071682|A/T|non-coding||1551|Validated; 2421859|CGAP|BC096075|A/T|non-coding||1378|Validated; 2421859|CGAP|BC096076|A/T|non-coding||1378|Validated; 2421859|CGAP|BC099623|A/T|non-coding||1378|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.T81T c.243A>C 6 167549961 LUAD A G 3-UTRSNV . c.1122+1762A>G 6 167552602 HC C G Missense p.F101L c.303C>G 6 167550021 LUAD C T Nonsense p.R157* c.469C>T 6 167550187 CM C T Synonymous p.C309C c.927C>T 6 167550645 UCEC C T Synonymous p.F306F c.918C>T 6 167550636 CM C T Synonymous p.S158S c.474C>T 6 167550192 CM C T Synonymous p.S371S c.1113C>T 6 167550831 CM C T Synonymous p.S37S c.111C>T 6 167549829 CM C T Synonymous p.Y53Y c.159C>T 6 167549877 CM G A 5-UTRSNV . c.1-55G>A 6 167549568 CM G A Missense p.A349T c.1045G>A 6 167550763 RCCC G A Missense p.D10N c.28G>A 6 167549746 OV G A Missense p.E362K c.1084G>A 6 167550802 HNSC G A Missense p.G350R c.1048G>A 6 167550766 PRAD G A Missense p.M230I c.690G>A 6 167550408 CM G A Missense p.M230I c.690G>A 6 167550408 HNSC G A Missense p.V83I c.247G>A 6 167549965 GBM G A Synonymous p.P50P c.150G>A 6 167549868 STAD G A Synonymous p.Q359Q c.1077G>A 6 167550795 LUSC G A Synonymous p.T235T c.705G>A 6 167550423 UCEC G C Missense p.E32Q c.94G>C 6 167549812 HNSC G C Missense p.V255L c.763G>C 6 167550481 LUAD G T Missense p.V67L c.199G>T 6 167549917 LUSC G T Synonymous p.V260V c.780G>T 6 167550498 LUSC T C Synonymous p.F221F c.663T>C 6 167550381 CM T G Synonymous p.T182T c.546T>G 6 167550264 BLCA C G Missense p.Q185E c.553C>G 3 46450087 BLCA C T Missense p.L231F c.691C>T 3 46450225 CM C T Synonymous p.F259F c.777C>T 3 46450311 CM C T Synonymous p.S34S c.102C>T 3 46449636 OV G A Missense p.A301T c.901G>A 3 46450435 BRCA G A Missense p.D41N c.121G>A 3 46449655 BRCA G A Missense p.G125D c.374G>A 3 46449908 LUSC G A Missense p.G148E c.443G>A 3 46449977 CM G A Missense p.G80R c.238G>A 3 46449772 CM G A Missense p.V84M c.250G>A 3 46449784 HNSC G A Synonymous p.E21E c.63G>A 3 46449597 CM G A Synonymous p.R242R c.726G>A 3 46450260 CM G C Missense p.R156T c.467G>C 3 46450001 BLCA T C Missense p.V220A c.659T>C 3 46450193 CM T C Missense p.V94A c.281T>C 3 46449815 CM T G Missense p.L329R c.986T>G 3 46450520 CM