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 16 9004639 9004639 + Missense_Mutation SNP C C G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr16:9004639C>G c.1124G>C c.(1123-1125)gGg>gCg p.G375A ACC 16 9004658 9004658 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr16:9004658C>T c.1105G>A c.(1105-1107)Gca>Aca p.A369T BLCA 16 8988666 8988666 + Missense_Mutation SNP T T C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr16:8988666T>C c.3086A>G c.(3085-3087)gAc>gGc p.D1029G BLCA 16 8989549 8989549 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr16:8989549C>T c.2869G>A c.(2869-2871)Gaa>Aaa p.E957K BLCA 16 8989600 8989600 + Splice_Site SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr16:8989600T>A c.e27-2 BLCA 16 8990890 8990890 + Missense_Mutation SNP C C T TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr16:8990890C>T c.2785G>A c.(2785-2787)Gtg>Atg p.V929M BLCA 16 8992270 8992270 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr16:8992270C>G c.2665G>C c.(2665-2667)Gag>Cag p.E889Q BLCA 16 8996041 8996041 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr16:8996041T>C c.1945A>G c.(1945-1947)Att>Gtt p.I649V BLCA 16 8996318 8996318 + Nonsense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr16:8996318G>A c.1861C>T c.(1861-1863)Cga>Tga p.R621* BLCA 16 8997182 8997182 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr16:8997182G>C c.1782C>G c.(1780-1782)ttC>ttG p.F594L BLCA 16 8999045 8999045 + Splice_Site SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr16:8999045C>T c.1572G>A c.(1570-1572)ctG>ctA p.L524L BLCA 16 8999111 8999111 + Missense_Mutation SNP A A C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr16:8999111A>C c.1506T>G c.(1504-1506)gaT>gaG p.D502E BLCA 16 8999146 8999146 + Missense_Mutation SNP C C T TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr16:8999146C>T c.1471G>A c.(1471-1473)Gag>Aag p.E491K BLCA 16 9009144 9009144 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr16:9009144C>T c.1045G>A c.(1045-1047)Gat>Aat p.D349N BLCA 16 9009156 9009156 + Missense_Mutation SNP C C G TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr16:9009156C>G c.1033G>C c.(1033-1035)Gaa>Caa p.E345Q BLCA 16 9009183 9009183 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr16:9009183C>T c.1006G>A c.(1006-1008)Gaa>Aaa p.E336K BLCA 16 9009379 9009379 + Missense_Mutation SNP G G C TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr16:9009379G>C c.910C>G c.(910-912)Ctc>Gtc p.L304V BLCA 16 9014215 9014215 + Splice_Site SNP C C T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr16:9014215C>T c.e5+1 BLCA 16 9014268 9014268 + Missense_Mutation SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr16:9014268C>T c.559G>A c.(559-561)Gac>Aac p.D187N BLCA 16 9017104 9017104 + Silent SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr16:9017104G>A c.351C>T c.(349-351)ttC>ttT p.F117F BRCA 16 8988916 8988916 + Missense_Mutation SNP C C T TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chr16:8988916C>T c.3011G>A c.(3010-3012)gGa>gAa p.G1004E BRCA 16 8988986 8988986 + Missense_Mutation SNP C C G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 g.chr16:8988986C>G c.2941G>C c.(2941-2943)Gac>Cac p.D981H BRCA 16 8996318 8996318 + Nonsense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 g.chr16:8996318G>A c.1861C>T c.(1861-1863)Cga>Tga p.R621* BRCA 16 9002246 9002246 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr16:9002246C>T c.1223G>A c.(1222-1224)aGa>aAa p.R408K BRCA 16 9009153 9009153 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr16:9009153C>G c.1036G>C c.(1036-1038)Gat>Cat p.D346H BRCA 16 9009376 9009376 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr16:9009376C>T c.913G>A c.(913-915)Gat>Aat p.D305N CESC 16 8993571 8993571 + Missense_Mutation SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr16:8993571C>T c.2353G>A c.(2353-2355)Gag>Aag p.E785K CESC 16 9002295 9002295 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr16:9002295C>T c.1174G>A c.(1174-1176)Ggt>Agt p.G392S CESC 16 9017100 9017100 + Missense_Mutation SNP G G C TCGA-C5-A2M1-01A-11D-A18J-09 TCGA-C5-A2M1-10A-01D-A18J-09 g.chr16:9017100G>C c.355C>G c.(355-357)Ctc>Gtc p.L119V CESC 16 9024213 9024213 + Missense_Mutation SNP C C A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 g.chr16:9024213C>A c.121G>T c.(121-123)Gtg>Ttg p.V41L COAD 16 8987895 8987895 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr16:8987895C>T c.3269G>A c.(3268-3270)cGc>cAc p.R1090H COAD 16 8988948 8988948 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr16:8988948C>T c.2979G>A c.(2977-2979)gcG>gcA p.A993A COAD 16 8988953 8988953 + Missense_Mutation SNP C C T TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr16:8988953C>T c.2974G>A c.(2974-2976)Gtg>Atg p.V992M COAD 16 8989007 8989007 + Splice_Site SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:8989007C>A c.2920G>T c.(2920-2922)Gaa>Taa p.E974* COAD 16 8990873 8990873 + Silent SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr16:8990873T>C c.2802A>G c.(2800-2802)aaA>aaG p.K934K COAD 16 8990873 8990873 + Silent SNP T T C TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr16:8990873T>C c.2802A>G c.(2800-2802)aaA>aaG p.K934K COAD 16 8990873 8990873 + Silent SNP T T C TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr16:8990873T>C c.2802A>G c.(2800-2802)aaA>aaG p.K934K COAD 16 8990873 8990873 + Silent SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr16:8990873T>C c.2802A>G c.(2800-2802)aaA>aaG p.K934K COAD 16 8990875 8990875 + Missense_Mutation SNP T T C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr16:8990875T>C c.2800A>G c.(2800-2802)Aaa>Gaa p.K934E COAD 16 8990875 8990875 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr16:8990875T>C c.2800A>G c.(2800-2802)Aaa>Gaa p.K934E COAD 16 8993577 8993577 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr16:8993577C>T c.2347G>A c.(2347-2349)Gca>Aca p.A783T COAD 16 8996252 8996252 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:8996252C>T c.1927G>A c.(1927-1929)Gac>Aac p.D643N COAD 16 8996318 8996318 + Nonsense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr16:8996318G>A c.1861C>T c.(1861-1863)Cga>Tga p.R621* COAD 16 8997212 8997212 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr16:8997212G>A c.1752C>T c.(1750-1752)taC>taT p.Y584Y COAD 16 8998399 8998399 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr16:8998399C>T c.1597G>A c.(1597-1599)Gac>Aac p.D533N COAD 16 8998407 8998407 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr16:8998407G>A c.1589C>T c.(1588-1590)gCg>gTg p.A530V COAD 16 9000435 9000435 + Nonsense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr16:9000435C>A c.1276G>T c.(1276-1278)Gaa>Taa p.E426* COAD 16 9004622 9004622 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr16:9004622C>T c.1141G>A c.(1141-1143)Gct>Act p.A381T COAD 16 9004624 9004624 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr16:9004624T>C c.1139A>G c.(1138-1140)gAc>gGc p.D380G COAD 16 9010359 9010359 + Splice_Site SNP C C A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr16:9010359C>A c.906G>T c.(904-906)gtG>gtT p.V302V COAD 16 9010901 9010901 + Frame_Shift_Del DEL T T - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:9010901delT c.833delA c.(832-834)aagfs p.K278fs COAD 16 9010986 9010986 + Frame_Shift_Del DEL C C - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:9010986delC c.748delG c.(748-750)gatfs p.D251fs COAD 16 9014216 9014216 + Splice_Site SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr16:9014216G>A c.611C>T c.(610-612)gCg>gTg p.A204V COAD 16 9017151 9017151 + Missense_Mutation SNP T T G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr16:9017151T>G c.304A>C c.(304-306)Atg>Ctg p.M102L COAD 16 9017177 9017177 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr16:9017177C>T c.278G>A c.(277-279)cGa>cAa p.R93Q COAD 16 9017178 9017178 + Nonsense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:9017178G>A c.277C>T c.(277-279)Cga>Tga p.R93* COAD 16 9024253 9024253 + Splice_Site SNP C C A TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr16:9024253C>A c.81G>T c.(79-81)gcG>gcT p.A27A COAD 16 9024253 9024253 + Splice_Site SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr16:9024253C>A c.81G>T c.(79-81)gcG>gcT p.A27A COAD 16 9024253 9024253 + Splice_Site SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr16:9024253C>T c.81G>A c.(79-81)gcG>gcA p.A27A COAD 16 9024253 9024253 + Splice_Site SNP C C T TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr16:9024253C>T c.81G>A c.(79-81)gcG>gcA p.A27A COAD 16 9024253 9024253 + Splice_Site SNP C C T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr16:9024253C>T c.81G>A c.(79-81)gcG>gcA p.A27A COAD 16 9024254 9024254 + Splice_Site SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr16:9024254G>A c.80C>T c.(79-81)gCg>gTg p.A27V COAD 16 9024254 9024254 + Splice_Site SNP G G A TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr16:9024254G>A c.80C>T c.(79-81)gCg>gTg p.A27V COAD 16 9057131 9057131 + Missense_Mutation SNP C C G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:9057131C>G c.12G>C c.(10-12)caG>caC p.Q4H COADREAD 16 8987895 8987895 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr16:8987895C>T c.3269G>A c.(3268-3270)cGc>cAc p.R1090H COADREAD 16 8988948 8988948 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr16:8988948C>T c.2979G>A c.(2977-2979)gcG>gcA p.A993A COADREAD 16 8988953 8988953 + Missense_Mutation SNP C C T TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr16:8988953C>T c.2974G>A c.(2974-2976)Gtg>Atg p.V992M COADREAD 16 8989007 8989007 + Splice_Site SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:8989007C>A c.2920G>T c.(2920-2922)Gaa>Taa p.E974* COADREAD 16 8990873 8990873 + Silent SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr16:8990873T>C c.2802A>G c.(2800-2802)aaA>aaG p.K934K COADREAD 16 8990873 8990873 + Silent SNP T T C TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr16:8990873T>C c.2802A>G c.(2800-2802)aaA>aaG p.K934K COADREAD 16 8990873 8990873 + Silent SNP T T C TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr16:8990873T>C c.2802A>G c.(2800-2802)aaA>aaG p.K934K COADREAD 16 8990873 8990873 + Silent SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr16:8990873T>C c.2802A>G c.(2800-2802)aaA>aaG p.K934K COADREAD 16 8990875 8990875 + Missense_Mutation SNP T T C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr16:8990875T>C c.2800A>G c.(2800-2802)Aaa>Gaa p.K934E COADREAD 16 8990875 8990875 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr16:8990875T>C c.2800A>G c.(2800-2802)Aaa>Gaa p.K934E COADREAD 16 8992421 8992421 + Silent SNP C C T TCGA-AG-A016-01A-01W-A005-10 TCGA-AG-A016-10A-01W-A005-10 g.chr16:8992421C>T c.2607G>A c.(2605-2607)aaG>aaA p.K869K COADREAD 16 8993577 8993577 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr16:8993577C>T c.2347G>A c.(2347-2349)Gca>Aca p.A783T COADREAD 16 8996252 8996252 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:8996252C>T c.1927G>A c.(1927-1929)Gac>Aac p.D643N COADREAD 16 8996318 8996318 + Nonsense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr16:8996318G>A c.1861C>T c.(1861-1863)Cga>Tga p.R621* COADREAD 16 8997212 8997212 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr16:8997212G>A c.1752C>T c.(1750-1752)taC>taT p.Y584Y COADREAD 16 8998399 8998399 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr16:8998399C>T c.1597G>A c.(1597-1599)Gac>Aac p.D533N COADREAD 16 8998407 8998407 + Missense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr16:8998407G>A c.1589C>T c.(1588-1590)gCg>gTg p.A530V COADREAD 16 9000373 9000373 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:9000373T>C c.1338A>G c.(1336-1338)gcA>gcG p.A446A COADREAD 16 9000435 9000435 + Nonsense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr16:9000435C>A c.1276G>T c.(1276-1278)Gaa>Taa p.E426* COADREAD 16 9004622 9004622 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr16:9004622C>T c.1141G>A c.(1141-1143)Gct>Act p.A381T COADREAD 16 9004624 9004624 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr16:9004624T>C c.1139A>G c.(1138-1140)gAc>gGc p.D380G COADREAD 16 9010359 9010359 + Splice_Site SNP C C A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr16:9010359C>A c.906G>T c.(904-906)gtG>gtT p.V302V COADREAD 16 9010901 9010901 + Frame_Shift_Del DEL T T - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:9010901delT c.833delA c.(832-834)aagfs p.K278fs COADREAD 16 9010986 9010986 + Frame_Shift_Del DEL C C - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:9010986delC c.748delG c.(748-750)gatfs p.D251fs COADREAD 16 9014216 9014216 + Splice_Site SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr16:9014216G>A c.611C>T c.(610-612)gCg>gTg p.A204V COADREAD 16 9014257 9014257 + Silent SNP G G T TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr16:9014257G>T c.570C>A c.(568-570)acC>acA p.T190T COADREAD 16 9015052 9015052 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:9015052C>A c.484G>T c.(484-486)Gaa>Taa p.E162* COADREAD 16 9017151 9017151 + Missense_Mutation SNP T T G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr16:9017151T>G c.304A>C c.(304-306)Atg>Ctg p.M102L COADREAD 16 9017177 9017177 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr16:9017177C>T c.278G>A c.(277-279)cGa>cAa p.R93Q COADREAD 16 9017178 9017178 + Nonsense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:9017178G>A c.277C>T c.(277-279)Cga>Tga p.R93* COADREAD 16 9024253 9024253 + Splice_Site SNP C C A TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr16:9024253C>A c.81G>T c.(79-81)gcG>gcT p.A27A COADREAD 16 9024253 9024253 + Splice_Site SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr16:9024253C>A c.81G>T c.(79-81)gcG>gcT p.A27A COADREAD 16 9024253 9024253 + Splice_Site SNP C C A TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr16:9024253C>A c.81G>T c.(79-81)gcG>gcT p.A27A COADREAD 16 9024253 9024253 + Splice_Site SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr16:9024253C>T c.81G>A c.(79-81)gcG>gcA p.A27A COADREAD 16 9024253 9024253 + Splice_Site SNP C C T TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr16:9024253C>T c.81G>A c.(79-81)gcG>gcA p.A27A COADREAD 16 9024253 9024253 + Splice_Site SNP C C T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr16:9024253C>T c.81G>A c.(79-81)gcG>gcA p.A27A COADREAD 16 9024254 9024254 + Splice_Site SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr16:9024254G>A c.80C>T c.(79-81)gCg>gTg p.A27V COADREAD 16 9024254 9024254 + Splice_Site SNP G G A TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr16:9024254G>A c.80C>T c.(79-81)gCg>gTg p.A27V COADREAD 16 9057131 9057131 + Missense_Mutation SNP C C G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:9057131C>G c.12G>C c.(10-12)caG>caC p.Q4H DLBC 16 8989511 8989511 + Silent SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr16:8989511C>T c.2907G>A c.(2905-2907)acG>acA p.T969T DLBC 16 9057083 9057083 + Silent SNP G G A TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr16:9057083G>A c.60C>T c.(58-60)ccC>ccT p.P20P ESCA 16 8989526 8989527 + Frame_Shift_Ins INS - - G TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr16:8989526_8989527insG c.2891_2892insC c.(2890-2892)cctfs p.P964fs ESCA 16 8996332 8996332 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr16:8996332G>T c.1847C>A c.(1846-1848)cCa>cAa p.P616Q ESCA 16 8997206 8997206 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr16:8997206T>A c.1758A>T c.(1756-1758)gaA>gaT p.E586D ESCA 16 8997212 8997212 + Nonsense_Mutation SNP G G C TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr16:8997212G>C c.1752C>G c.(1750-1752)taC>taG p.Y584* ESCA 16 8997253 8997253 + Missense_Mutation SNP C C T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 g.chr16:8997253C>T c.1711G>A c.(1711-1713)Gca>Aca p.A571T ESCA 16 8998324 8998324 + Silent SNP G G T TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 g.chr16:8998324G>T c.1672C>A c.(1672-1674)Cgg>Agg p.R558R ESCA 16 9000392 9000393 + Frame_Shift_Ins INS - - T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr16:9000392_9000393insT c.1318_1319insA c.(1318-1320)acafs p.T440fs ESCA 16 9017259 9017259 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr16:9017259G>A c.196C>T c.(196-198)Cgc>Tgc p.R66C GBM 16 8998407 8998407 + Missense_Mutation SNP G G A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 g.chr16:8998407G>A c.1589C>T c.(1588-1590)gCg>gTg p.A530V GBMLGG 16 8988700 8988700 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:8988700G>A c.3052C>T c.(3052-3054)Cga>Tga p.R1018* GBMLGG 16 8988966 8988966 + Silent SNP C C T TCGA-S9-A6TY-01A-12D-A32B-08 TCGA-S9-A6TY-10A-01D-A329-08 g.chr16:8988966C>T c.2961G>A c.(2959-2961)gaG>gaA p.E987E GBMLGG 16 8990887 8990887 + Missense_Mutation SNP C C T TCGA-TM-A7CA-01A-21D-A33T-08 TCGA-TM-A7CA-10A-01D-A33W-08 g.chr16:8990887C>T c.2788G>A c.(2788-2790)Gag>Aag p.E930K GBMLGG 16 8998370 8998370 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:8998370C>A c.1626G>T c.(1624-1626)gaG>gaT p.E542D GBMLGG 16 8998407 8998407 + Missense_Mutation SNP G G A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 g.chr16:8998407G>A c.1589C>T c.(1588-1590)gCg>gTg p.A530V GBMLGG 16 9000424 9000424 + Silent SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr16:9000424C>T c.1287G>A c.(1285-1287)gaG>gaA p.E429E GBMLGG 16 9004625 9004625 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:9004625C>T c.1138G>A c.(1138-1140)Gac>Aac p.D380N GBMLGG 16 9010900 9010901 + Frame_Shift_Ins INS - - T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:9010900_9010901insT c.833_834insA c.(832-834)aagfs p.K278fs GBMLGG 16 9014244 9014244 + Missense_Mutation SNP C C G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 g.chr16:9014244C>G c.583G>C c.(583-585)Gta>Cta p.V195L HNSC 16 8989584 8989584 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:8989584A>G c.2834T>C c.(2833-2835)gTa>gCa p.V945A HNSC 16 8989591 8989591 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 g.chr16:8989591C>G c.2827G>C c.(2827-2829)Gaa>Caa p.E943Q HNSC 16 8990890 8990890 + Missense_Mutation SNP C C G TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 g.chr16:8990890C>G c.2785G>C c.(2785-2787)Gtg>Ctg p.V929L HNSC 16 8998332 8998332 + Missense_Mutation SNP C C T TCGA-D6-8568-01A-11D-2394-08 TCGA-D6-8568-10A-01D-2394-08 g.chr16:8998332C>T c.1664G>A c.(1663-1665)cGg>cAg p.R555Q HNSC 16 8998351 8998351 + Missense_Mutation SNP T T C TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 g.chr16:8998351T>C c.1645A>G c.(1645-1647)Agg>Ggg p.R549G HNSC 16 8999176 8999176 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr16:8999176C>G c.1441G>C c.(1441-1443)Gat>Cat p.D481H HNSC 16 9009317 9009317 + Missense_Mutation SNP G G T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 g.chr16:9009317G>T c.972C>A c.(970-972)ttC>ttA p.F324L KIPAN 16 9010986 9010986 + Missense_Mutation SNP C C T TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr16:9010986C>T c.748G>A c.(748-750)Gat>Aat p.D250N KIPAN 16 9012898 9012898 + Missense_Mutation SNP T T G TCGA-BP-4164-01A-02D-1386-10 TCGA-BP-4164-11A-01D-1251-10 g.chr16:9012898T>G c.710A>C c.(709-711)cAg>cCg p.Q237P KIRC 16 9010986 9010986 + Missense_Mutation SNP C C T TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr16:9010986C>T c.748G>A c.(748-750)Gat>Aat p.D250N KIRC 16 9012898 9012898 + Missense_Mutation SNP T T G TCGA-BP-4164-01A-02D-1386-10 TCGA-BP-4164-11A-01D-1251-10 g.chr16:9012898T>G c.710A>C c.(709-711)cAg>cCg p.Q237P LGG 16 8988700 8988700 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:8988700G>A c.3052C>T c.(3052-3054)Cga>Tga p.R1018* LGG 16 8988966 8988966 + Silent SNP C C T TCGA-S9-A6TY-01A-12D-A32B-08 TCGA-S9-A6TY-10A-01D-A329-08 g.chr16:8988966C>T c.2961G>A c.(2959-2961)gaG>gaA p.E987E LGG 16 8990887 8990887 + Missense_Mutation SNP C C T TCGA-TM-A7CA-01A-21D-A33T-08 TCGA-TM-A7CA-10A-01D-A33W-08 g.chr16:8990887C>T c.2788G>A c.(2788-2790)Gag>Aag p.E930K LGG 16 8998370 8998370 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:8998370C>A c.1626G>T c.(1624-1626)gaG>gaT p.E542D LGG 16 9000424 9000424 + Silent SNP C C T TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr16:9000424C>T c.1287G>A c.(1285-1287)gaG>gaA p.E429E LGG 16 9004625 9004625 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:9004625C>T c.1138G>A c.(1138-1140)Gac>Aac p.D380N LGG 16 9010900 9010901 + Frame_Shift_Ins INS - - T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:9010900_9010901insT c.833_834insA c.(832-834)aagfs p.K278fs LGG 16 9014244 9014244 + Missense_Mutation SNP C C G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 g.chr16:9014244C>G c.583G>C c.(583-585)Gta>Cta p.V195L LIHC 16 8988707 8988707 + Missense_Mutation SNP C C A TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr16:8988707C>A c.3045G>T c.(3043-3045)gaG>gaT p.E1015D LIHC 16 8989502 8989502 + Missense_Mutation SNP T T C TCGA-DD-AADS-01A-11D-A40R-10 TCGA-DD-AADS-10A-01D-A40U-10 g.chr16:8989502T>C c.2916A>G c.(2914-2916)atA>atG p.I972M LIHC 16 8992449 8992449 + Missense_Mutation SNP G G A TCGA-DD-AACA-01A-11D-A40R-10 TCGA-DD-AACA-10A-01D-A40U-10 g.chr16:8992449G>A c.2579C>T c.(2578-2580)aCt>aTt p.T860I LIHC 16 9000399 9000399 + Nonsense_Mutation SNP G G A TCGA-FV-A496-01A-11D-A25V-10 TCGA-FV-A496-10A-01D-A25V-10 g.chr16:9000399G>A c.1312C>T c.(1312-1314)Caa>Taa p.Q438* LIHC 16 9009382 9009382 + Splice_Site SNP A A G TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr16:9009382A>G c.907T>C c.(907-909)Ttg>Ctg p.L303L LIHC 16 9015082 9015082 + Missense_Mutation SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr16:9015082G>T c.454C>A c.(454-456)Cgt>Agt p.R152S LUAD 16 8988689 8988689 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr16:8988689C>A c.3063G>T c.(3061-3063)atG>atT p.M1021I LUAD 16 8988972 8988972 + Silent SNP C C T TCGA-05-4244-01A-01D-1105-08 TCGA-05-4244-10A-01D-1105-08 g.chr16:8988972C>T c.2955G>A c.(2953-2955)gaG>gaA p.E985E LUAD 16 8993022 8993022 + Missense_Mutation SNP C C A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr16:8993022C>A c.2487G>T c.(2485-2487)agG>agT p.R829S LUAD 16 8993490 8993490 + Missense_Mutation SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 g.chr16:8993490T>A c.2434A>T c.(2434-2436)Acg>Tcg p.T812S LUAD 16 8993541 8993541 + Missense_Mutation SNP C C T TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr16:8993541C>T c.2383G>A c.(2383-2385)Gat>Aat p.D795N LUAD 16 8995984 8995984 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr16:8995984C>A c.2002G>T c.(2002-2004)Gag>Tag p.E668* LUAD 16 8995999 8995999 + Missense_Mutation SNP C C T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr16:8995999C>T c.1987G>A c.(1987-1989)Gaa>Aaa p.E663K LUAD 16 8997213 8997213 + Missense_Mutation SNP T T C TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr16:8997213T>C c.1751A>G c.(1750-1752)tAc>tGc p.Y584C LUAD 16 8998387 8998387 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr16:8998387G>T c.1609C>A c.(1609-1611)Cct>Act p.P537T LUAD 16 8999094 8999094 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr16:8999094C>A c.1523G>T c.(1522-1524)cGa>cTa p.R508L LUAD 16 8999107 8999107 + Missense_Mutation SNP C C A TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr16:8999107C>A c.1510G>T c.(1510-1512)Gac>Tac p.D504Y LUAD 16 8999176 8999176 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr16:8999176C>G c.1441G>C c.(1441-1443)Gat>Cat p.D481H LUAD 16 9004618 9004618 + Missense_Mutation SNP C C A TCGA-97-A4M3-01A-11D-A24P-08 TCGA-97-A4M3-10A-01D-A24P-08 g.chr16:9004618C>A c.1145G>T c.(1144-1146)gGg>gTg p.G382V LUAD 16 9004656 9004656 + Silent SNP T T A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr16:9004656T>A c.1107A>T c.(1105-1107)gcA>gcT p.A369A LUAD 16 9009138 9009138 + Nonsense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr16:9009138G>A c.1051C>T c.(1051-1053)Cag>Tag p.Q351* LUAD 16 9009171 9009171 + Missense_Mutation SNP G G A TCGA-05-4426-01A-01D-1265-08 TCGA-05-4426-10A-01D-1265-08 g.chr16:9009171G>A c.1018C>T c.(1018-1020)Cgg>Tgg p.R340W LUAD 16 9009313 9009313 + Missense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr16:9009313C>A c.976G>T c.(976-978)Ggc>Tgc p.G326C LUAD 16 9012974 9012974 + Missense_Mutation SNP C C A TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr16:9012974C>A c.634G>T c.(634-636)Ggc>Tgc p.G212C LUSC 16 8988925 8988925 + Missense_Mutation SNP C C T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr16:8988925C>T c.3002G>A c.(3001-3003)gGa>gAa p.G1001E LUSC 16 8992280 8992280 + Silent SNP G G A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 g.chr16:8992280G>A c.2655C>T c.(2653-2655)atC>atT p.I885I LUSC 16 8993508 8993508 + Missense_Mutation SNP C C A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr16:8993508C>A c.2416G>T c.(2416-2418)Gat>Tat p.D806Y LUSC 16 8996248 8996248 + Missense_Mutation SNP C C G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr16:8996248C>G c.1931G>C c.(1930-1932)gGc>gCc p.G644A LUSC 16 8996252 8996252 + Missense_Mutation SNP C C T TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr16:8996252C>T c.1927G>A c.(1927-1929)Gac>Aac p.D643N LUSC 16 9012908 9012908 + Missense_Mutation SNP A A C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr16:9012908A>C c.700T>G c.(700-702)Ttc>Gtc p.F234V OV 16 8988445 8988445 + Missense_Mutation SNP T T C TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 g.chr16:8988445T>C c.3164A>G c.(3163-3165)gAg>gGg p.E1055G OV 16 8988686 8988686 + Missense_Mutation SNP C C A TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 g.chr16:8988686C>A c.3066G>T c.(3064-3066)aaG>aaT p.K1022N OV 16 8988939 8988939 + Silent SNP G G A TCGA-61-2613-01A-01W-1092-09 TCGA-61-2613-11A-01W-1092-09 g.chr16:8988939G>A c.2988C>T c.(2986-2988)caC>caT p.H996H OV 16 8989591 8989591 + Missense_Mutation SNP C C G TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 g.chr16:8989591C>G c.2827G>C c.(2827-2829)Gaa>Caa p.E943Q OV 16 8990874 8990874 + Missense_Mutation SNP T T A TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 g.chr16:8990874T>A c.2801A>T c.(2800-2802)aAa>aTa p.K934I OV 16 8999116 8999116 + Missense_Mutation SNP G G A TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 g.chr16:8999116G>A c.1501C>T c.(1501-1503)Cac>Tac p.H501Y OV 16 9014258 9014258 + Missense_Mutation SNP G G A TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 g.chr16:9014258G>A c.569C>T c.(568-570)aCc>aTc p.T190I OV 16 9015078 9015078 + Missense_Mutation SNP C C G TCGA-61-1899-01A-01W-0639-09 TCGA-61-1899-11A-01W-0639-09 g.chr16:9015078C>G c.458G>C c.(457-459)cGt>cCt p.R153P OV 16 9024254 9024254 + Splice_Site SNP G G C TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 g.chr16:9024254G>C c.80C>G c.(79-81)gCg>gGg p.A27G PAAD 16 8988948 8988948 + Silent SNP C C T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 g.chr16:8988948C>T c.2979G>A c.(2977-2979)gcG>gcA p.A993A PAAD 16 8993578 8993578 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:8993578G>A c.2346C>T c.(2344-2346)acC>acT p.T782T PAAD 16 8995939 8995939 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:8995939G>A c.2047C>T c.(2047-2049)Cat>Tat p.H683Y PAAD 16 8997161 8997161 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:8997161C>T c.1803G>A c.(1801-1803)tcG>tcA p.S601S PAAD 16 9017122 9017122 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 g.chr16:9017122G>A c.333C>T c.(331-333)caC>caT p.H111H PRAD 16 8988926 8988926 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:8988926C>T c.3001G>A c.(3001-3003)Gga>Aga p.G1001R PRAD 16 8989539 8989539 + Missense_Mutation SNP T T G TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 g.chr16:8989539T>G c.2879A>C c.(2878-2880)gAa>gCa p.E960A PRAD 16 9017178 9017178 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:9017178G>A c.277C>T c.(277-279)Cga>Tga p.R93* PRAD 16 9017192 9017192 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:9017192G>T c.263C>A c.(262-264)cCt>cAt p.P88H READ 16 8992421 8992421 + Silent SNP C C T TCGA-AG-A016-01A-01W-A005-10 TCGA-AG-A016-10A-01W-A005-10 g.chr16:8992421C>T c.2607G>A c.(2605-2607)aaG>aaA p.K869K READ 16 9000373 9000373 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:9000373T>C c.1338A>G c.(1336-1338)gcA>gcG p.A446A READ 16 9014257 9014257 + Silent SNP G G T TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr16:9014257G>T c.570C>A c.(568-570)acC>acA p.T190T READ 16 9015052 9015052 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:9015052C>A c.484G>T c.(484-486)Gaa>Taa p.E162* READ 16 9024253 9024253 + Splice_Site SNP C C A TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr16:9024253C>A c.81G>T c.(79-81)gcG>gcT p.A27A SARC 16 8988658 8988658 + Missense_Mutation SNP C C T TCGA-DX-AB2F-01A-11D-A387-09 TCGA-DX-AB2F-10A-01D-A38A-09 g.chr16:8988658C>T c.3094G>A c.(3094-3096)Gag>Aag p.E1032K SKCM 16 8987935 8987935 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:8987935G>A c.3229C>T c.(3229-3231)Cta>Tta p.L1077L SKCM 16 8988680 8988680 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr16:8988680G>A c.3072C>T c.(3070-3072)atC>atT p.I1024I SKCM 16 8988992 8988992 + Nonsense_Mutation SNP G G A TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr16:8988992G>A c.2935C>T c.(2935-2937)Cag>Tag p.Q979* SKCM 16 8990881 8990881 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr16:8990881C>A c.2794G>T c.(2794-2796)Ggg>Tgg p.G932W SKCM 16 8994415 8994415 + Missense_Mutation SNP T T A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr16:8994415T>A c.2281A>T c.(2281-2283)Atg>Ttg p.M761L SKCM 16 8995939 8995939 + Splice_Site SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr16:8995939G>A c.2047C>T c.(2047-2049)Cat>Tat p.H683Y SKCM 16 8995974 8995974 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr16:8995974G>A c.2012C>T c.(2011-2013)gCt>gTt p.A671V SKCM 16 8996003 8996003 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr16:8996003G>A c.1983C>T c.(1981-1983)ttC>ttT p.F661F SKCM 16 8996035 8996035 + Missense_Mutation SNP G G A TCGA-D3-A51F-06A-11D-A25O-08 TCGA-D3-A51F-10A-01D-A25O-08 g.chr16:8996035G>A c.1951C>T c.(1951-1953)Ctc>Ttc p.L651F SKCM 16 8996278 8996278 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr16:8996278C>T c.1901G>A c.(1900-1902)cGa>cAa p.R634Q SKCM 16 8996279 8996279 + Nonsense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 g.chr16:8996279G>A c.1900C>T c.(1900-1902)Cga>Tga p.R634* SKCM 16 9000287 9000287 + Missense_Mutation SNP C C G TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr16:9000287C>G c.1424G>C c.(1423-1425)gGc>gCc p.G475A SKCM 16 9000299 9000299 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr16:9000299G>A c.1412C>T c.(1411-1413)cCc>cTc p.P471L SKCM 16 9009193 9009193 + Silent SNP G G A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr16:9009193G>A c.996C>T c.(994-996)atC>atT p.I332I SKCM 16 9010979 9010979 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:9010979G>A c.755C>T c.(754-756)tCg>tTg p.S252L SKCM 16 9012978 9012978 + Silent SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr16:9012978G>A c.630C>T c.(628-630)caC>caT p.H210H SKCM 16 9012979 9012979 + Missense_Mutation SNP T T A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr16:9012979T>A c.629A>T c.(628-630)cAc>cTc p.H210L SKCM 16 9014253 9014253 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr16:9014253C>T c.574G>A c.(574-576)Gaa>Aaa p.E192K

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 16 8997182 8997182 single base substitution G C 3_prime_UTR_variant BLCA-US 16 8997182 8997182 single base substitution G C exon_variant BLCA-US 16 8997182 8997182 single base substitution G C missense_variant F495L 1485C>G BLCA-US 16 8997182 8997182 single base substitution G C missense_variant F578L 1734C>G BLCA-US 16 8997182 8997182 single base substitution G C missense_variant F594L 1782C>G BLCA-US 16 8997182 8997182 single base substitution G C upstream_gene_variant BLCA-US 16 9009183 9009183 single base substitution C T 3_prime_UTR_variant BLCA-US 16 9009183 9009183 single base substitution C T exon_variant BLCA-US 16 9009183 9009183 single base substitution C T missense_variant E237K 709G>A BLCA-US 16 9009183 9009183 single base substitution C T missense_variant E320K 958G>A BLCA-US 16 9009183 9009183 single base substitution C T missense_variant E336K 1006G>A BLCA-US 16 9014215 9014215 single base substitution C T downstream_gene_variant BLCA-US 16 9014215 9014215 single base substitution C T splice_donor_variant BOCA-FR 16 9019436 9019436 single base substitution T C intron_variant BRCA-EU 16 8981009 8981009 single base substitution T C downstream_gene_variant BRCA-EU 16 8982695 8982695 single base substitution G C downstream_gene_variant BRCA-EU 16 8982881 8982881 single base substitution C T downstream_gene_variant BRCA-EU 16 8983975 8983975 single base substitution G A downstream_gene_variant BRCA-EU 16 8985814 8985814 single base substitution A T downstream_gene_variant BRCA-EU 16 8985849 8985849 single base substitution C T downstream_gene_variant BRCA-EU 16 8986378 8986385 deletion of <=200bp TCACATCT - 3_prime_UTR_variant BRCA-EU 16 8986378 8986385 deletion of <=200bp TCACATCT - downstream_gene_variant BRCA-EU 16 8986970 8986970 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 16 8986970 8986970 insertion of <=200bp - T downstream_gene_variant BRCA-EU 16 8986977 8986977 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 16 8986977 8986977 deletion of <=200bp T - downstream_gene_variant BRCA-EU 16 8989018 8989018 single base substitution G A downstream_gene_variant BRCA-EU 16 8989018 8989018 single base substitution G A intron_variant BRCA-EU 16 8989612 8989612 single base substitution A G downstream_gene_variant BRCA-EU 16 8989612 8989612 single base substitution A G intron_variant BRCA-EU 16 8990026 8990026 single base substitution C A downstream_gene_variant BRCA-EU 16 8990026 8990026 single base substitution C A intron_variant BRCA-EU 16 8992725 8992725 single base substitution G A downstream_gene_variant BRCA-EU 16 8992725 8992725 single base substitution G A intron_variant BRCA-EU 16 8992725 8992725 single base substitution G A upstream_gene_variant BRCA-EU 16 8994047 8994047 single base substitution G A downstream_gene_variant BRCA-EU 16 8994047 8994047 single base substitution G A intron_variant BRCA-EU 16 8994047 8994047 single base substitution G A upstream_gene_variant BRCA-EU 16 8994102 8994102 single base substitution C G downstream_gene_variant BRCA-EU 16 8994102 8994102 single base substitution C G intron_variant BRCA-EU 16 8994102 8994102 single base substitution C G upstream_gene_variant BRCA-EU 16 8994499 8994499 single base substitution G C downstream_gene_variant BRCA-EU 16 8994499 8994499 single base substitution G C exon_variant BRCA-EU 16 8994499 8994499 single base substitution G C intron_variant BRCA-EU 16 8994499 8994499 single base substitution G C upstream_gene_variant BRCA-EU 16 8994736 8994736 single base substitution G C downstream_gene_variant BRCA-EU 16 8994736 8994736 single base substitution G C exon_variant BRCA-EU 16 8994736 8994736 single base substitution G C intron_variant BRCA-EU 16 8994736 8994736 single base substitution G C upstream_gene_variant BRCA-EU 16 8995407 8995407 single base substitution G A downstream_gene_variant BRCA-EU 16 8995407 8995407 single base substitution G A intron_variant BRCA-EU 16 8995407 8995407 single base substitution G A upstream_gene_variant BRCA-EU 16 8995530 8995532 deletion of <=200bp GTT - downstream_gene_variant BRCA-EU 16 8995530 8995532 deletion of <=200bp GTT - intron_variant BRCA-EU 16 8995530 8995532 deletion of <=200bp GTT - upstream_gene_variant BRCA-EU 16 8996744 8996744 insertion of <=200bp - A intron_variant BRCA-EU 16 8996744 8996744 insertion of <=200bp - A upstream_gene_variant BRCA-EU 16 8998309 8998309 single base substitution G C 3_prime_UTR_variant BRCA-EU 16 8998309 8998309 single base substitution G C exon_variant BRCA-EU 16 8998309 8998309 single base substitution G C missense_variant L464V 1390C>G BRCA-EU 16 8998309 8998309 single base substitution G C missense_variant L547V 1639C>G BRCA-EU 16 8998309 8998309 single base substitution G C missense_variant L563V 1687C>G BRCA-EU 16 8998309 8998309 single base substitution G C upstream_gene_variant BRCA-EU 16 8999386 8999386 single base substitution T C intron_variant BRCA-EU 16 8999386 8999386 single base substitution T C upstream_gene_variant BRCA-EU 16 9002299 9002299 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 9002299 9002299 single base substitution C T exon_variant BRCA-EU 16 9002299 9002299 single base substitution C T synonymous_variant E291E 873G>A BRCA-EU 16 9002299 9002299 single base substitution C T synonymous_variant E374E 1122G>A BRCA-EU 16 9002299 9002299 single base substitution C T synonymous_variant E390E 1170G>A BRCA-EU 16 9002299 9002299 single base substitution C T upstream_gene_variant BRCA-EU 16 9005740 9005740 single base substitution C T intron_variant BRCA-EU 16 9006647 9006647 deletion of <=200bp A - intron_variant BRCA-EU 16 9008216 9008216 single base substitution C T intron_variant BRCA-EU 16 9008855 9008855 single base substitution G C intron_variant BRCA-EU 16 9010022 9010022 single base substitution A G downstream_gene_variant BRCA-EU 16 9010022 9010022 single base substitution A G intron_variant BRCA-EU 16 9011552 9011552 single base substitution G C downstream_gene_variant BRCA-EU 16 9011552 9011552 single base substitution G C intron_variant BRCA-EU 16 9011630 9011630 single base substitution G C downstream_gene_variant BRCA-EU 16 9011630 9011630 single base substitution G C intron_variant BRCA-EU 16 9011665 9011665 single base substitution G C downstream_gene_variant BRCA-EU 16 9011665 9011665 single base substitution G C intron_variant BRCA-EU 16 9012561 9012561 single base substitution G A downstream_gene_variant BRCA-EU 16 9012561 9012561 single base substitution G A intron_variant BRCA-EU 16 9012656 9012656 single base substitution A G downstream_gene_variant BRCA-EU 16 9012656 9012656 single base substitution A G intron_variant BRCA-EU 16 9013843 9013843 single base substitution C A downstream_gene_variant BRCA-EU 16 9013843 9013843 single base substitution C A intron_variant BRCA-EU 16 9014225 9014225 single base substitution T C 3_prime_UTR_variant BRCA-EU 16 9014225 9014225 single base substitution T C downstream_gene_variant BRCA-EU 16 9014225 9014225 single base substitution T C exon_variant BRCA-EU 16 9014225 9014225 single base substitution T C missense_variant H102R 305A>G BRCA-EU 16 9014225 9014225 single base substitution T C missense_variant H185R 554A>G BRCA-EU 16 9014225 9014225 single base substitution T C missense_variant H201R 602A>G BRCA-EU 16 9019843 9019843 single base substitution C G intron_variant BRCA-EU 16 9020095 9020095 single base substitution G A intron_variant BRCA-EU 16 9022669 9022669 single base substitution A G intron_variant BRCA-EU 16 9022867 9022867 single base substitution C T intron_variant BRCA-EU 16 9024032 9024032 single base substitution A G intron_variant BRCA-EU 16 9024758 9024758 single base substitution G A intron_variant BRCA-EU 16 9025077 9025077 single base substitution G A intron_variant BRCA-EU 16 9025231 9025231 single base substitution G C intron_variant BRCA-EU 16 9025920 9025920 single base substitution C A intron_variant BRCA-EU 16 9026755 9026755 deletion of <=200bp A - intron_variant BRCA-EU 16 9027205 9027205 single base substitution A G intron_variant BRCA-EU 16 9028259 9028259 single base substitution C G intron_variant BRCA-EU 16 9028677 9028680 deletion of <=200bp ATGG - intron_variant BRCA-EU 16 9030206 9030206 single base substitution G A intron_variant BRCA-EU 16 9030206 9030206 single base substitution G A upstream_gene_variant BRCA-EU 16 9030801 9030801 single base substitution T A intron_variant BRCA-EU 16 9030801 9030801 single base substitution T A upstream_gene_variant BRCA-EU 16 9032703 9032703 single base substitution G A intron_variant BRCA-EU 16 9032703 9032703 single base substitution G A upstream_gene_variant BRCA-EU 16 9033293 9033293 single base substitution A C intron_variant BRCA-EU 16 9033293 9033293 single base substitution A C upstream_gene_variant BRCA-EU 16 9033338 9033338 single base substitution C T intron_variant BRCA-EU 16 9033338 9033338 single base substitution C T upstream_gene_variant BRCA-EU 16 9033572 9033572 single base substitution C G intron_variant BRCA-EU 16 9033572 9033572 single base substitution C G upstream_gene_variant BRCA-EU 16 9034645 9034645 deletion of <=200bp T - intron_variant BRCA-EU 16 9034645 9034645 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 9035586 9035586 single base substitution G A intron_variant BRCA-EU 16 9035586 9035586 single base substitution G A upstream_gene_variant BRCA-EU 16 9035761 9035761 single base substitution T A intron_variant BRCA-EU 16 9037498 9037498 single base substitution C T intron_variant BRCA-EU 16 9037854 9037854 single base substitution T G intron_variant BRCA-EU 16 9039038 9039038 single base substitution G C intron_variant BRCA-EU 16 9039743 9039743 deletion of <=200bp A - intron_variant BRCA-EU 16 9041204 9041204 deletion of <=200bp C - intron_variant BRCA-EU 16 9041451 9041451 single base substitution C T intron_variant BRCA-EU 16 9041943 9041943 single base substitution C G intron_variant BRCA-EU 16 9046287 9046287 single base substitution C T intron_variant BRCA-EU 16 9046287 9046287 single base substitution C T upstream_gene_variant BRCA-EU 16 9046340 9046340 insertion of <=200bp - G intron_variant BRCA-EU 16 9046340 9046340 insertion of <=200bp - G upstream_gene_variant BRCA-EU 16 9046845 9046845 single base substitution C T intron_variant BRCA-EU 16 9046845 9046845 single base substitution C T upstream_gene_variant BRCA-EU 16 9049638 9049638 single base substitution A C intron_variant BRCA-EU 16 9050638 9050638 single base substitution A C intron_variant BRCA-EU 16 9050638 9050638 single base substitution A C upstream_gene_variant BRCA-EU 16 9050869 9050869 single base substitution A G intron_variant BRCA-EU 16 9050869 9050869 single base substitution A G upstream_gene_variant BRCA-EU 16 9051068 9051068 single base substitution G C intron_variant BRCA-EU 16 9051068 9051068 single base substitution G C upstream_gene_variant BRCA-EU 16 9051569 9051569 single base substitution C T intron_variant BRCA-EU 16 9051569 9051569 single base substitution C T upstream_gene_variant BRCA-EU 16 9051954 9051954 single base substitution T C intron_variant BRCA-EU 16 9051954 9051954 single base substitution T C upstream_gene_variant BRCA-EU 16 9053332 9053332 deletion of <=200bp G - intron_variant BRCA-EU 16 9053332 9053332 deletion of <=200bp G - upstream_gene_variant BRCA-EU 16 9054022 9054022 single base substitution A T intron_variant BRCA-EU 16 9054022 9054022 single base substitution A T upstream_gene_variant BRCA-EU 16 9055580 9055580 single base substitution G T intron_variant BRCA-EU 16 9056082 9056082 single base substitution G A intron_variant BRCA-EU 16 9059449 9059449 single base substitution G A upstream_gene_variant BRCA-EU 16 9059521 9059521 single base substitution G A upstream_gene_variant BRCA-EU 16 9059992 9059992 single base substitution T A upstream_gene_variant BRCA-EU 16 9060569 9060569 single base substitution A C upstream_gene_variant BRCA-EU 16 9062137 9062137 single base substitution T C upstream_gene_variant BRCA-EU 16 9062183 9062183 single base substitution C G upstream_gene_variant BRCA-FR 16 8982695 8982695 single base substitution G C downstream_gene_variant BRCA-FR 16 8987909 8987909 single base substitution G A 3_prime_UTR_variant BRCA-FR 16 8987909 8987909 single base substitution G A downstream_gene_variant BRCA-FR 16 8987909 8987909 single base substitution G A synonymous_variant A1069A 3207C>T BRCA-FR 16 8987909 8987909 single base substitution G A synonymous_variant A1085A 3255C>T BRCA-FR 16 8987909 8987909 single base substitution G A synonymous_variant A986A 2958C>T BRCA-FR 16 8991309 8991309 single base substitution G A downstream_gene_variant BRCA-FR 16 8991309 8991309 single base substitution G A intron_variant BRCA-FR 16 8991309 8991309 single base substitution G A upstream_gene_variant BRCA-FR 16 8992224 8992224 single base substitution C A 3_prime_UTR_variant BRCA-FR 16 8992224 8992224 single base substitution C A downstream_gene_variant BRCA-FR 16 8992224 8992224 single base substitution C A exon_variant BRCA-FR 16 8992224 8992224 single base substitution C A missense_variant R805M 2414G>T BRCA-FR 16 8992224 8992224 single base substitution C A missense_variant R888M 2663G>T BRCA-FR 16 8992224 8992224 single base substitution C A missense_variant R904M 2711G>T BRCA-FR 16 8992224 8992224 single base substitution C A upstream_gene_variant BRCA-FR 16 8994102 8994102 single base substitution C G downstream_gene_variant BRCA-FR 16 8994102 8994102 single base substitution C G intron_variant BRCA-FR 16 8994102 8994102 single base substitution C G upstream_gene_variant BRCA-FR 16 8995730 8995730 single base substitution C G downstream_gene_variant BRCA-FR 16 8995730 8995730 single base substitution C G intron_variant BRCA-FR 16 8995730 8995730 single base substitution C G upstream_gene_variant BRCA-FR 16 9002299 9002299 single base substitution C T 3_prime_UTR_variant BRCA-FR 16 9002299 9002299 single base substitution C T exon_variant BRCA-FR 16 9002299 9002299 single base substitution C T synonymous_variant E291E 873G>A BRCA-FR 16 9002299 9002299 single base substitution C T synonymous_variant E374E 1122G>A BRCA-FR 16 9002299 9002299 single base substitution C T synonymous_variant E390E 1170G>A BRCA-FR 16 9002299 9002299 single base substitution C T upstream_gene_variant BRCA-FR 16 9016331 9016331 single base substitution G C downstream_gene_variant BRCA-FR 16 9016331 9016331 single base substitution G C intron_variant BRCA-FR 16 9025077 9025077 single base substitution G A intron_variant BRCA-FR 16 9028754 9028754 single base substitution A G intron_variant BRCA-FR 16 9046287 9046287 single base substitution C T intron_variant BRCA-FR 16 9046287 9046287 single base substitution C T upstream_gene_variant BRCA-FR 16 9050791 9050791 single base substitution C T intron_variant BRCA-FR 16 9050791 9050791 single base substitution C T upstream_gene_variant BRCA-FR 16 9050869 9050869 single base substitution A G intron_variant BRCA-FR 16 9050869 9050869 single base substitution A G upstream_gene_variant BRCA-KR 16 8999008 8999008 single base substitution A G intron_variant BRCA-KR 16 8999008 8999008 single base substitution A G upstream_gene_variant BRCA-UK 16 8997162 8997162 single base substitution G A 3_prime_UTR_variant BRCA-UK 16 8997162 8997162 single base substitution G A exon_variant BRCA-UK 16 8997162 8997162 single base substitution G A missense_variant S502L 1505C>T BRCA-UK 16 8997162 8997162 single base substitution G A missense_variant S585L 1754C>T BRCA-UK 16 8997162 8997162 single base substitution G A missense_variant S601L 1802C>T BRCA-UK 16 8997162 8997162 single base substitution G A upstream_gene_variant BRCA-UK 16 9002294 9002294 single base substitution C A 3_prime_UTR_variant BRCA-UK 16 9002294 9002294 single base substitution C A exon_variant BRCA-UK 16 9002294 9002294 single base substitution C A missense_variant G293V 878G>T BRCA-UK 16 9002294 9002294 single base substitution C A missense_variant G376V 1127G>T BRCA-UK 16 9002294 9002294 single base substitution C A missense_variant G392V 1175G>T BRCA-UK 16 9002294 9002294 single base substitution C A upstream_gene_variant BRCA-UK 16 9041451 9041451 single base substitution C T intron_variant BRCA-US 16 8988916 8988916 single base substitution C T 3_prime_UTR_variant BRCA-US 16 8988916 8988916 single base substitution C T downstream_gene_variant BRCA-US 16 8988916 8988916 single base substitution C T exon_variant BRCA-US 16 8988916 8988916 single base substitution C T missense_variant G1004E 3011G>A BRCA-US 16 8988916 8988916 single base substitution C T missense_variant G905E 2714G>A BRCA-US 16 8988916 8988916 single base substitution C T missense_variant G988E 2963G>A BRCA-US 16 8988986 8988986 single base substitution C G 3_prime_UTR_variant BRCA-US 16 8988986 8988986 single base substitution C G downstream_gene_variant BRCA-US 16 8988986 8988986 single base substitution C G exon_variant BRCA-US 16 8988986 8988986 single base substitution C G missense_variant D882H 2644G>C BRCA-US 16 8988986 8988986 single base substitution C G missense_variant D965H 2893G>C BRCA-US 16 8988986 8988986 single base substitution C G missense_variant D981H 2941G>C BRCA-US 16 8996318 8996318 single base substitution G A 3_prime_UTR_variant BRCA-US 16 8996318 8996318 single base substitution G A exon_variant BRCA-US 16 8996318 8996318 single base substitution G A stop_gained R522* 1564C>T BRCA-US 16 8996318 8996318 single base substitution G A stop_gained R605* 1813C>T BRCA-US 16 8996318 8996318 single base substitution G A stop_gained R621* 1861C>T BRCA-US 16 8996318 8996318 single base substitution G A upstream_gene_variant BRCA-US 16 9002246 9002246 single base substitution C T 3_prime_UTR_variant BRCA-US 16 9002246 9002246 single base substitution C T exon_variant BRCA-US 16 9002246 9002246 single base substitution C T missense_variant R309K 926G>A BRCA-US 16 9002246 9002246 single base substitution C T missense_variant R392K 1175G>A BRCA-US 16 9002246 9002246 single base substitution C T missense_variant R408K 1223G>A BRCA-US 16 9002246 9002246 single base substitution C T upstream_gene_variant BRCA-US 16 9009153 9009153 single base substitution C G 3_prime_UTR_variant BRCA-US 16 9009153 9009153 single base substitution C G exon_variant BRCA-US 16 9009153 9009153 single base substitution C G missense_variant D247H 739G>C BRCA-US 16 9009153 9009153 single base substitution C G missense_variant D330H 988G>C BRCA-US 16 9009153 9009153 single base substitution C G missense_variant D346H 1036G>C BRCA-US 16 9009376 9009376 single base substitution C T 3_prime_UTR_variant BRCA-US 16 9009376 9009376 single base substitution C T downstream_gene_variant BRCA-US 16 9009376 9009376 single base substitution C T exon_variant BRCA-US 16 9009376 9009376 single base substitution C T missense_variant D206N 616G>A BRCA-US 16 9009376 9009376 single base substitution C T missense_variant D289N 865G>A BRCA-US 16 9009376 9009376 single base substitution C T missense_variant D305N 913G>A BTCA-JP 16 8989512 8989512 single base substitution G A 3_prime_UTR_variant BTCA-JP 16 8989512 8989512 single base substitution G A downstream_gene_variant BTCA-JP 16 8989512 8989512 single base substitution G A exon_variant BTCA-JP 16 8989512 8989512 single base substitution G A missense_variant T870M 2609C>T BTCA-JP 16 8989512 8989512 single base substitution G A missense_variant T953M 2858C>T BTCA-JP 16 8989512 8989512 single base substitution G A missense_variant T969M 2906C>T BTCA-JP 16 8992341 8992341 single base substitution C T downstream_gene_variant BTCA-JP 16 8992341 8992341 single base substitution C T exon_variant BTCA-JP 16 8992341 8992341 single base substitution C T intron_variant BTCA-JP 16 8992341 8992341 single base substitution C T upstream_gene_variant BTCA-JP 16 8995190 8995190 single base substitution C A downstream_gene_variant BTCA-JP 16 8995190 8995190 single base substitution C A intron_variant BTCA-JP 16 8995190 8995190 single base substitution C A upstream_gene_variant BTCA-JP 16 8997303 8997303 deletion of <=200bp A - intron_variant BTCA-JP 16 8997303 8997303 deletion of <=200bp A - upstream_gene_variant BTCA-JP 16 8998277 8998277 single base substitution A T intron_variant BTCA-JP 16 8998277 8998277 single base substitution A T upstream_gene_variant CESC-US 16 8993571 8993571 single base substitution C T 3_prime_UTR_variant CESC-US 16 8993571 8993571 single base substitution C T downstream_gene_variant CESC-US 16 8993571 8993571 single base substitution C T exon_variant CESC-US 16 8993571 8993571 single base substitution C T missense_variant E686K 2056G>A CESC-US 16 8993571 8993571 single base substitution C T missense_variant E769K 2305G>A CESC-US 16 8993571 8993571 single base substitution C T missense_variant E785K 2353G>A CESC-US 16 8993571 8993571 single base substitution C T upstream_gene_variant CESC-US 16 9002295 9002295 single base substitution C T 3_prime_UTR_variant CESC-US 16 9002295 9002295 single base substitution C T exon_variant CESC-US 16 9002295 9002295 single base substitution C T missense_variant G293S 877G>A CESC-US 16 9002295 9002295 single base substitution C T missense_variant G376S 1126G>A CESC-US 16 9002295 9002295 single base substitution C T missense_variant G392S 1174G>A CESC-US 16 9002295 9002295 single base substitution C T upstream_gene_variant CESC-US 16 9017100 9017100 single base substitution G C 3_prime_UTR_variant CESC-US 16 9017100 9017100 single base substitution G C downstream_gene_variant CESC-US 16 9017100 9017100 single base substitution G C exon_variant CESC-US 16 9017100 9017100 single base substitution G C intron_variant CESC-US 16 9017100 9017100 single base substitution G C missense_variant L103V 307C>G CESC-US 16 9017100 9017100 single base substitution G C missense_variant L105V 313C>G CESC-US 16 9017100 9017100 single base substitution G C missense_variant L119V 355C>G CESC-US 16 9017100 9017100 single base substitution G C missense_variant L20V 58C>G CESC-US 16 9017100 9017100 single base substitution G C missense_variant L61V 181C>G CESC-US 16 9024213 9024213 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant CESC-US 16 9024213 9024213 single base substitution C A exon_variant CESC-US 16 9024213 9024213 single base substitution C A missense_variant V25L 73G>T CESC-US 16 9024213 9024213 single base substitution C A missense_variant V27L 79G>T CESC-US 16 9024213 9024213 single base substitution C A missense_variant V41L 121G>T CLLE-ES 16 8986174 8986174 single base substitution A C 3_prime_UTR_variant CLLE-ES 16 8986174 8986174 single base substitution A C downstream_gene_variant CLLE-ES 16 8986564 8986564 single base substitution A C 3_prime_UTR_variant CLLE-ES 16 8986564 8986564 single base substitution A C downstream_gene_variant CLLE-ES 16 8988411 8988411 single base substitution C T 3_prime_UTR_variant CLLE-ES 16 8988411 8988411 single base substitution C T downstream_gene_variant CLLE-ES 16 8988411 8988411 single base substitution C T synonymous_variant Q1050Q 3150G>A CLLE-ES 16 8988411 8988411 single base substitution C T synonymous_variant Q1066Q 3198G>A CLLE-ES 16 8988411 8988411 single base substitution C T synonymous_variant Q967Q 2901G>A CLLE-ES 16 9013328 9013328 single base substitution T G downstream_gene_variant CLLE-ES 16 9013328 9013328 single base substitution T G intron_variant CLLE-ES 16 9027926 9027926 single base substitution A C intron_variant CLLE-ES 16 9039753 9039753 single base substitution T A intron_variant CLLE-ES 16 9058604 9058604 single base substitution G A upstream_gene_variant CLLE-ES 16 9062612 9062612 single base substitution A T upstream_gene_variant COAD-US 16 8989007 8989007 single base substitution C A downstream_gene_variant COAD-US 16 8989007 8989007 single base substitution C A splice_region_variant COAD-US 16 8989007 8989007 single base substitution C A stop_gained E875* 2623G>T COAD-US 16 8989007 8989007 single base substitution C A stop_gained E958* 2872G>T COAD-US 16 8989007 8989007 single base substitution C A stop_gained E974* 2920G>T COAD-US 16 8992485 8992485 single base substitution C A 3_prime_UTR_variant COAD-US 16 8992485 8992485 single base substitution C A downstream_gene_variant COAD-US 16 8992485 8992485 single base substitution C A exon_variant COAD-US 16 8992485 8992485 single base substitution C A missense_variant G749V 2246G>T COAD-US 16 8992485 8992485 single base substitution C A missense_variant G832V 2495G>T COAD-US 16 8992485 8992485 single base substitution C A missense_variant G848V 2543G>T COAD-US 16 8992485 8992485 single base substitution C A upstream_gene_variant COAD-US 16 8996298 8996298 single base substitution T C 3_prime_UTR_variant COAD-US 16 8996298 8996298 single base substitution T C exon_variant COAD-US 16 8996298 8996298 single base substitution T C synonymous_variant A528A 1584A>G COAD-US 16 8996298 8996298 single base substitution T C synonymous_variant A611A 1833A>G COAD-US 16 8996298 8996298 single base substitution T C synonymous_variant A627A 1881A>G COAD-US 16 8996298 8996298 single base substitution T C upstream_gene_variant COAD-US 16 8996318 8996318 single base substitution G A 3_prime_UTR_variant COAD-US 16 8996318 8996318 single base substitution G A exon_variant COAD-US 16 8996318 8996318 single base substitution G A stop_gained R522* 1564C>T COAD-US 16 8996318 8996318 single base substitution G A stop_gained R605* 1813C>T COAD-US 16 8996318 8996318 single base substitution G A stop_gained R621* 1861C>T COAD-US 16 8996318 8996318 single base substitution G A upstream_gene_variant COAD-US 16 9000435 9000435 single base substitution C A 3_prime_UTR_variant COAD-US 16 9000435 9000435 single base substitution C A exon_variant COAD-US 16 9000435 9000435 single base substitution C A stop_gained E327* 979G>T COAD-US 16 9000435 9000435 single base substitution C A stop_gained E410* 1228G>T COAD-US 16 9000435 9000435 single base substitution C A stop_gained E426* 1276G>T COAD-US 16 9000435 9000435 single base substitution C A upstream_gene_variant COAD-US 16 9004622 9004622 single base substitution C T 3_prime_UTR_variant COAD-US 16 9004622 9004622 single base substitution C T exon_variant COAD-US 16 9004622 9004622 single base substitution C T missense_variant A282T 844G>A COAD-US 16 9004622 9004622 single base substitution C T missense_variant A365T 1093G>A COAD-US 16 9004622 9004622 single base substitution C T missense_variant A381T 1141G>A COAD-US 16 9010359 9010359 single base substitution C A downstream_gene_variant COAD-US 16 9010359 9010359 single base substitution C A splice_region_variant COAD-US 16 9010901 9010901 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 16 9010901 9010901 deletion of <=200bp T - downstream_gene_variant COAD-US 16 9010901 9010901 deletion of <=200bp T - exon_variant COAD-US 16 9010901 9010901 deletion of <=200bp T - frameshift_variant K179 COAD-US 16 9010901 9010901 deletion of <=200bp T - frameshift_variant K262 COAD-US 16 9010901 9010901 deletion of <=200bp T - frameshift_variant K278 COAD-US 16 9010986 9010986 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 16 9010986 9010986 deletion of <=200bp C - downstream_gene_variant COAD-US 16 9010986 9010986 deletion of <=200bp C - exon_variant COAD-US 16 9010986 9010986 deletion of <=200bp C - frameshift_variant D151 COAD-US 16 9010986 9010986 deletion of <=200bp C - frameshift_variant D234 COAD-US 16 9010986 9010986 deletion of <=200bp C - frameshift_variant D250 COAD-US 16 9017177 9017177 single base substitution C T 3_prime_UTR_variant COAD-US 16 9017177 9017177 single base substitution C T 5_prime_UTR_variant COAD-US 16 9017177 9017177 single base substitution C T exon_variant COAD-US 16 9017177 9017177 single base substitution C T intron_variant COAD-US 16 9017177 9017177 single base substitution C T missense_variant R35Q 104G>A COAD-US 16 9017177 9017177 single base substitution C T missense_variant R77Q 230G>A COAD-US 16 9017177 9017177 single base substitution C T missense_variant R79Q 236G>A COAD-US 16 9017177 9017177 single base substitution C T missense_variant R93Q 278G>A COAD-US 16 9017178 9017178 single base substitution G A 3_prime_UTR_variant COAD-US 16 9017178 9017178 single base substitution G A 5_prime_UTR_variant COAD-US 16 9017178 9017178 single base substitution G A exon_variant COAD-US 16 9017178 9017178 single base substitution G A intron_variant COAD-US 16 9017178 9017178 single base substitution G A stop_gained R35* 103C>T COAD-US 16 9017178 9017178 single base substitution G A stop_gained R77* 229C>T COAD-US 16 9017178 9017178 single base substitution G A stop_gained R79* 235C>T COAD-US 16 9017178 9017178 single base substitution G A stop_gained R93* 277C>T COAD-US 16 9024253 9024253 single base substitution C T splice_region_variant COAD-US 16 9057128 9057128 single base substitution C G exon_variant COAD-US 16 9057128 9057128 single base substitution C G intron_variant COAD-US 16 9057128 9057128 single base substitution C G missense_variant Q5H 15G>C COAD-US 16 9057128 9057128 single base substitution C G upstream_gene_variant COCA-CN 16 8988777 8988777 single base substitution C G downstream_gene_variant COCA-CN 16 8988777 8988777 single base substitution C G intron_variant COCA-CN 16 8992216 8992216 single base substitution C T downstream_gene_variant COCA-CN 16 8992216 8992216 single base substitution C T splice_donor_variant COCA-CN 16 8992216 8992216 single base substitution C T upstream_gene_variant COCA-CN 16 8993087 8993087 single base substitution G A downstream_gene_variant COCA-CN 16 8993087 8993087 single base substitution G A intron_variant COCA-CN 16 8993087 8993087 single base substitution G A upstream_gene_variant COCA-CN 16 8993088 8993088 single base substitution A T downstream_gene_variant COCA-CN 16 8993088 8993088 single base substitution A T intron_variant COCA-CN 16 8993088 8993088 single base substitution A T upstream_gene_variant COCA-CN 16 8996248 8996248 single base substitution C T 3_prime_UTR_variant COCA-CN 16 8996248 8996248 single base substitution C T exon_variant COCA-CN 16 8996248 8996248 single base substitution C T missense_variant G545D 1634G>A COCA-CN 16 8996248 8996248 single base substitution C T missense_variant G628D 1883G>A COCA-CN 16 8996248 8996248 single base substitution C T missense_variant G644D 1931G>A COCA-CN 16 8996248 8996248 single base substitution C T upstream_gene_variant COCA-CN 16 8999057 8999057 single base substitution C A 3_prime_UTR_variant COCA-CN 16 8999057 8999057 single base substitution C A exon_variant COCA-CN 16 8999057 8999057 single base substitution C A missense_variant R421S 1263G>T COCA-CN 16 8999057 8999057 single base substitution C A missense_variant R504S 1512G>T COCA-CN 16 8999057 8999057 single base substitution C A missense_variant R520S 1560G>T COCA-CN 16 8999057 8999057 single base substitution C A upstream_gene_variant COCA-CN 16 9004544 9004544 single base substitution G T intron_variant COCA-CN 16 9004626 9004626 single base substitution G A 3_prime_UTR_variant COCA-CN 16 9004626 9004626 single base substitution G A exon_variant COCA-CN 16 9004626 9004626 single base substitution G A synonymous_variant Y280Y 840C>T COCA-CN 16 9004626 9004626 single base substitution G A synonymous_variant Y363Y 1089C>T COCA-CN 16 9004626 9004626 single base substitution G A synonymous_variant Y379Y 1137C>T COCA-CN 16 9010826 9010826 single base substitution T A downstream_gene_variant COCA-CN 16 9010826 9010826 single base substitution T A intron_variant COCA-CN 16 9017061 9017061 single base substitution T A downstream_gene_variant COCA-CN 16 9017061 9017061 single base substitution T A intron_variant COCA-CN 16 9017149 9017149 single base substitution C T 3_prime_UTR_variant COCA-CN 16 9017149 9017149 single base substitution C T downstream_gene_variant COCA-CN 16 9017149 9017149 single base substitution C T exon_variant COCA-CN 16 9017149 9017149 single base substitution C T intron_variant COCA-CN 16 9017149 9017149 single base substitution C T missense_variant M102I 306G>A COCA-CN 16 9017149 9017149 single base substitution C T missense_variant M3I 9G>A COCA-CN 16 9017149 9017149 single base substitution C T missense_variant M44I 132G>A COCA-CN 16 9017149 9017149 single base substitution C T missense_variant M86I 258G>A COCA-CN 16 9017149 9017149 single base substitution C T missense_variant M88I 264G>A COCA-CN 16 9024230 9024230 single base substitution C A 5_prime_UTR_variant COCA-CN 16 9024230 9024230 single base substitution C A exon_variant COCA-CN 16 9024230 9024230 single base substitution C A missense_variant R19I 56G>T COCA-CN 16 9024230 9024230 single base substitution C A missense_variant R21I 62G>T COCA-CN 16 9024230 9024230 single base substitution C A missense_variant R35I 104G>T COCA-CN 16 9056135 9056135 single base substitution T G intron_variant EOPC-DE 16 8980998 8980998 single base substitution T G downstream_gene_variant EOPC-DE 16 9021672 9021672 single base substitution G A intron_variant EOPC-DE 16 9047372 9047372 single base substitution T C intron_variant EOPC-DE 16 9047372 9047372 single base substitution T C upstream_gene_variant ESAD-UK 16 8981279 8981279 single base substitution G A downstream_gene_variant ESAD-UK 16 8982429 8982429 single base substitution C G downstream_gene_variant ESAD-UK 16 8983996 8983996 single base substitution C A downstream_gene_variant ESAD-UK 16 8984649 8984649 single base substitution G A downstream_gene_variant ESAD-UK 16 8986317 8986317 single base substitution G C 3_prime_UTR_variant ESAD-UK 16 8986317 8986317 single base substitution G C downstream_gene_variant ESAD-UK 16 8987362 8987362 single base substitution G A 3_prime_UTR_variant ESAD-UK 16 8987362 8987362 single base substitution G A downstream_gene_variant ESAD-UK 16 8989595 8989595 single base substitution C T 3_prime_UTR_variant ESAD-UK 16 8989595 8989595 single base substitution C T downstream_gene_variant ESAD-UK 16 8989595 8989595 single base substitution C T exon_variant ESAD-UK 16 8989595 8989595 single base substitution C T synonymous_variant L842L 2526G>A ESAD-UK 16 8989595 8989595 single base substitution C T synonymous_variant L925L 2775G>A ESAD-UK 16 8989595 8989595 single base substitution C T synonymous_variant L941L 2823G>A ESAD-UK 16 8990839 8990839 single base substitution G C downstream_gene_variant ESAD-UK 16 8990839 8990839 single base substitution G C intron_variant ESAD-UK 16 8993261 8993261 single base substitution G A downstream_gene_variant ESAD-UK 16 8993261 8993261 single base substitution G A exon_variant ESAD-UK 16 8993261 8993261 single base substitution G A intron_variant ESAD-UK 16 8993261 8993261 single base substitution G A upstream_gene_variant ESAD-UK 16 8994269 8994269 single base substitution A T downstream_gene_variant ESAD-UK 16 8994269 8994269 single base substitution A T intron_variant ESAD-UK 16 8994269 8994269 single base substitution A T upstream_gene_variant ESAD-UK 16 8995169 8995169 insertion of <=200bp - A downstream_gene_variant ESAD-UK 16 8995169 8995169 insertion of <=200bp - A intron_variant ESAD-UK 16 8995169 8995169 insertion of <=200bp - A upstream_gene_variant ESAD-UK 16 8996211 8996211 single base substitution A G exon_variant ESAD-UK 16 8996211 8996211 single base substitution A G intron_variant ESAD-UK 16 8996211 8996211 single base substitution A G upstream_gene_variant ESAD-UK 16 8996568 8996568 single base substitution A G intron_variant ESAD-UK 16 8996568 8996568 single base substitution A G upstream_gene_variant ESAD-UK 16 8999466 8999466 single base substitution T A intron_variant ESAD-UK 16 8999466 8999466 single base substitution T A upstream_gene_variant ESAD-UK 16 9002789 9002789 single base substitution G A intron_variant ESAD-UK 16 9002789 9002789 single base substitution G A upstream_gene_variant ESAD-UK 16 9003964 9003964 single base substitution T C intron_variant ESAD-UK 16 9005661 9005661 single base substitution C A intron_variant ESAD-UK 16 9006844 9006844 single base substitution C T intron_variant ESAD-UK 16 9008225 9008225 single base substitution G A intron_variant ESAD-UK 16 9009171 9009171 single base substitution G A 3_prime_UTR_variant ESAD-UK 16 9009171 9009171 single base substitution G A exon_variant ESAD-UK 16 9009171 9009171 single base substitution G A missense_variant R241W 721C>T ESAD-UK 16 9009171 9009171 single base substitution G A missense_variant R324W 970C>T ESAD-UK 16 9009171 9009171 single base substitution G A missense_variant R340W 1018C>T ESAD-UK 16 9009637 9009637 single base substitution G T downstream_gene_variant ESAD-UK 16 9009637 9009637 single base substitution G T intron_variant ESAD-UK 16 9011649 9011649 single base substitution G C downstream_gene_variant ESAD-UK 16 9011649 9011649 single base substitution G C intron_variant ESAD-UK 16 9011799 9011799 single base substitution G A downstream_gene_variant ESAD-UK 16 9011799 9011799 single base substitution G A intron_variant ESAD-UK 16 9014043 9014043 single base substitution C T downstream_gene_variant ESAD-UK 16 9014043 9014043 single base substitution C T intron_variant ESAD-UK 16 9014395 9014395 single base substitution G C downstream_gene_variant ESAD-UK 16 9014395 9014395 single base substitution G C intron_variant ESAD-UK 16 9019025 9019025 single base substitution C T intron_variant ESAD-UK 16 9022400 9022400 single base substitution G A intron_variant ESAD-UK 16 9022860 9022860 single base substitution A C intron_variant ESAD-UK 16 9023725 9023725 single base substitution C T intron_variant ESAD-UK 16 9026780 9026780 single base substitution A T intron_variant ESAD-UK 16 9027684 9027685 deletion of <=200bp CT - intron_variant ESAD-UK 16 9029790 9029792 deletion of <=200bp CAG - intron_variant ESAD-UK 16 9029790 9029792 deletion of <=200bp CAG - upstream_gene_variant ESAD-UK 16 9029791 9029791 single base substitution A T intron_variant ESAD-UK 16 9029791 9029791 single base substitution A T upstream_gene_variant ESAD-UK 16 9030199 9030199 single base substitution C T intron_variant ESAD-UK 16 9030199 9030199 single base substitution C T upstream_gene_variant ESAD-UK 16 9031070 9031070 single base substitution T A intron_variant ESAD-UK 16 9031070 9031070 single base substitution T A upstream_gene_variant ESAD-UK 16 9032023 9032023 single base substitution G A intron_variant ESAD-UK 16 9032023 9032023 single base substitution G A upstream_gene_variant ESAD-UK 16 9033738 9033738 single base substitution C T intron_variant ESAD-UK 16 9033738 9033738 single base substitution C T upstream_gene_variant ESAD-UK 16 9035136 9035136 single base substitution A T intron_variant ESAD-UK 16 9035136 9035136 single base substitution A T upstream_gene_variant ESAD-UK 16 9036231 9036231 single base substitution C T intron_variant ESAD-UK 16 9036630 9036630 single base substitution T C intron_variant ESAD-UK 16 9037164 9037164 insertion of <=200bp - TATTAAAC intron_variant ESAD-UK 16 9039596 9039596 single base substitution A G intron_variant ESAD-UK 16 9040513 9040513 single base substitution A G intron_variant ESAD-UK 16 9042803 9042803 insertion of <=200bp - AA intron_variant ESAD-UK 16 9043155 9043155 single base substitution C T intron_variant ESAD-UK 16 9046100 9046100 single base substitution G A intron_variant ESAD-UK 16 9046100 9046100 single base substitution G A upstream_gene_variant ESAD-UK 16 9046560 9046560 single base substitution G A intron_variant ESAD-UK 16 9046560 9046560 single base substitution G A upstream_gene_variant ESAD-UK 16 9048238 9048238 single base substitution G A intron_variant ESAD-UK 16 9048238 9048238 single base substitution G A upstream_gene_variant ESAD-UK 16 9050338 9050338 single base substitution T A intron_variant ESAD-UK 16 9050338 9050338 single base substitution T A upstream_gene_variant ESAD-UK 16 9053026 9053026 single base substitution T C intron_variant ESAD-UK 16 9053026 9053026 single base substitution T C upstream_gene_variant ESAD-UK 16 9056367 9056367 single base substitution C G intron_variant ESAD-UK 16 9056367 9056367 single base substitution C G start_lost M1I 3G>C ESAD-UK 16 9060079 9060079 single base substitution G T upstream_gene_variant ESAD-UK 16 9063022 9063022 deletion of <=200bp A - upstream_gene_variant ESCA-CN 16 8988685 8988685 single base substitution G A 3_prime_UTR_variant ESCA-CN 16 8988685 8988685 single base substitution G A downstream_gene_variant ESCA-CN 16 8988685 8988685 single base substitution G A stop_gained R1007* 3019C>T ESCA-CN 16 8988685 8988685 single base substitution G A stop_gained R1023* 3067C>T ESCA-CN 16 8988685 8988685 single base substitution G A stop_gained R924* 2770C>T ESCA-CN 16 8992412 8992412 single base substitution T G 3_prime_UTR_variant ESCA-CN 16 8992412 8992412 single base substitution T G downstream_gene_variant ESCA-CN 16 8992412 8992412 single base substitution T G exon_variant ESCA-CN 16 8992412 8992412 single base substitution T G missense_variant Q773H 2319A>C ESCA-CN 16 8992412 8992412 single base substitution T G missense_variant Q856H 2568A>C ESCA-CN 16 8992412 8992412 single base substitution T G missense_variant Q872H 2616A>C ESCA-CN 16 8992412 8992412 single base substitution T G upstream_gene_variant ESCA-CN 16 8992467 8992467 single base substitution C G 3_prime_UTR_variant ESCA-CN 16 8992467 8992467 single base substitution C G downstream_gene_variant ESCA-CN 16 8992467 8992467 single base substitution C G exon_variant ESCA-CN 16 8992467 8992467 single base substitution C G missense_variant R755T 2264G>C ESCA-CN 16 8992467 8992467 single base substitution C G missense_variant R838T 2513G>C ESCA-CN 16 8992467 8992467 single base substitution C G missense_variant R854T 2561G>C ESCA-CN 16 8992467 8992467 single base substitution C G upstream_gene_variant ESCA-CN 16 9000414 9000414 single base substitution G A 3_prime_UTR_variant ESCA-CN 16 9000414 9000414 single base substitution G A exon_variant ESCA-CN 16 9000414 9000414 single base substitution G A missense_variant L334F 1000C>T ESCA-CN 16 9000414 9000414 single base substitution G A missense_variant L417F 1249C>T ESCA-CN 16 9000414 9000414 single base substitution G A missense_variant L433F 1297C>T ESCA-CN 16 9000414 9000414 single base substitution G A upstream_gene_variant ESCA-CN 16 9024243 9024243 single base substitution C G 5_prime_UTR_variant ESCA-CN 16 9024243 9024243 single base substitution C G exon_variant ESCA-CN 16 9024243 9024243 single base substitution C G missense_variant D15H 43G>C ESCA-CN 16 9024243 9024243 single base substitution C G missense_variant D17H 49G>C ESCA-CN 16 9024243 9024243 single base substitution C G missense_variant D31H 91G>C ESCA-CN 16 9030475 9030475 single base substitution G T 5_prime_UTR_variant ESCA-CN 16 9030475 9030475 single base substitution G T intron_variant ESCA-CN 16 9030475 9030475 single base substitution G T upstream_gene_variant GBM-US 16 8998407 8998407 single base substitution G A 3_prime_UTR_variant GBM-US 16 8998407 8998407 single base substitution G A intron_variant GBM-US 16 8998407 8998407 single base substitution G A missense_variant A431V 1292C>T GBM-US 16 8998407 8998407 single base substitution G A missense_variant A514V 1541C>T GBM-US 16 8998407 8998407 single base substitution G A missense_variant A530V 1589C>T GBM-US 16 8998407 8998407 single base substitution G A upstream_gene_variant KIRC-US 16 9010986 9010986 single base substitution C T 3_prime_UTR_variant KIRC-US 16 9010986 9010986 single base substitution C T downstream_gene_variant KIRC-US 16 9010986 9010986 single base substitution C T exon_variant KIRC-US 16 9010986 9010986 single base substitution C T missense_variant D151N 451G>A KIRC-US 16 9010986 9010986 single base substitution C T missense_variant D234N 700G>A KIRC-US 16 9010986 9010986 single base substitution C T missense_variant D250N 748G>A KIRC-US 16 9012898 9012898 single base substitution T G 3_prime_UTR_variant KIRC-US 16 9012898 9012898 single base substitution T G downstream_gene_variant KIRC-US 16 9012898 9012898 single base substitution T G exon_variant KIRC-US 16 9012898 9012898 single base substitution T G missense_variant Q138P 413A>C KIRC-US 16 9012898 9012898 single base substitution T G missense_variant Q221P 662A>C KIRC-US 16 9012898 9012898 single base substitution T G missense_variant Q237P 710A>C LAML-KR 16 8992342 8992342 single base substitution G A downstream_gene_variant LAML-KR 16 8992342 8992342 single base substitution G A exon_variant LAML-KR 16 8992342 8992342 single base substitution G A intron_variant LAML-KR 16 8992342 8992342 single base substitution G A upstream_gene_variant LAML-KR 16 9047717 9047717 single base substitution C G intron_variant LAML-KR 16 9047717 9047717 single base substitution C G upstream_gene_variant LGG-US 16 9000424 9000424 single base substitution C T 3_prime_UTR_variant LGG-US 16 9000424 9000424 single base substitution C T exon_variant LGG-US 16 9000424 9000424 single base substitution C T synonymous_variant E330E 990G>A LGG-US 16 9000424 9000424 single base substitution C T synonymous_variant E413E 1239G>A LGG-US 16 9000424 9000424 single base substitution C T synonymous_variant E429E 1287G>A LGG-US 16 9000424 9000424 single base substitution C T upstream_gene_variant LICA-FR 16 8990890 8990890 single base substitution C A 3_prime_UTR_variant LICA-FR 16 8990890 8990890 single base substitution C A downstream_gene_variant LICA-FR 16 8990890 8990890 single base substitution C A exon_variant LICA-FR 16 8990890 8990890 single base substitution C A missense_variant V830L 2488G>T LICA-FR 16 8990890 8990890 single base substitution C A missense_variant V913L 2737G>T LICA-FR 16 8990890 8990890 single base substitution C A missense_variant V929L 2785G>T LICA-FR 16 9017214 9017214 single base substitution G T 3_prime_UTR_variant LICA-FR 16 9017214 9017214 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 16 9017214 9017214 single base substitution G T exon_variant LICA-FR 16 9017214 9017214 single base substitution G T missense_variant L23M 67C>A LICA-FR 16 9017214 9017214 single base substitution G T missense_variant L65M 193C>A LICA-FR 16 9017214 9017214 single base substitution G T missense_variant L67M 199C>A LICA-FR 16 9017214 9017214 single base substitution G T missense_variant L81M 241C>A LICA-FR 16 9026027 9026027 single base substitution T C intron_variant LICA-FR 16 9057113 9057113 insertion of <=200bp - CTG exon_variant LICA-FR 16 9057113 9057113 insertion of <=200bp - CTG inframe_insertion Q10QQ LICA-FR 16 9057113 9057113 insertion of <=200bp - CTG intron_variant LICA-FR 16 9057113 9057113 insertion of <=200bp - CTG upstream_gene_variant LIHC-US 16 8988707 8988707 single base substitution C A 3_prime_UTR_variant LIHC-US 16 8988707 8988707 single base substitution C A downstream_gene_variant LIHC-US 16 8988707 8988707 single base substitution C A missense_variant E1015D 3045G>T LIHC-US 16 8988707 8988707 single base substitution C A missense_variant E916D 2748G>T LIHC-US 16 8988707 8988707 single base substitution C A missense_variant E999D 2997G>T LIHC-US 16 9000399 9000399 single base substitution G A 3_prime_UTR_variant LIHC-US 16 9000399 9000399 single base substitution G A exon_variant LIHC-US 16 9000399 9000399 single base substitution G A stop_gained Q339* 1015C>T LIHC-US 16 9000399 9000399 single base substitution G A stop_gained Q422* 1264C>T LIHC-US 16 9000399 9000399 single base substitution G A stop_gained Q438* 1312C>T LIHC-US 16 9000399 9000399 single base substitution G A upstream_gene_variant LIHC-US 16 9015082 9015082 single base substitution G T 3_prime_UTR_variant LIHC-US 16 9015082 9015082 single base substitution G T downstream_gene_variant LIHC-US 16 9015082 9015082 single base substitution G T exon_variant LIHC-US 16 9015082 9015082 single base substitution G T missense_variant R136S 406C>A LIHC-US 16 9015082 9015082 single base substitution G T missense_variant R138S 412C>A LIHC-US 16 9015082 9015082 single base substitution G T missense_variant R152S 454C>A LIHC-US 16 9015082 9015082 single base substitution G T missense_variant R53S 157C>A LIHC-US 16 9015082 9015082 single base substitution G T missense_variant R94S 280C>A LINC-JP 16 8991605 8991605 single base substitution A T downstream_gene_variant LINC-JP 16 8991605 8991605 single base substitution A T intron_variant LINC-JP 16 8991605 8991605 single base substitution A T upstream_gene_variant LINC-JP 16 8998651 8998651 single base substitution A T intron_variant LINC-JP 16 8998651 8998651 single base substitution A T upstream_gene_variant LINC-JP 16 9010974 9010974 single base substitution T C 3_prime_UTR_variant LINC-JP 16 9010974 9010974 single base substitution T C downstream_gene_variant LINC-JP 16 9010974 9010974 single base substitution T C exon_variant LINC-JP 16 9010974 9010974 single base substitution T C missense_variant K155E 463A>G LINC-JP 16 9010974 9010974 single base substitution T C missense_variant K238E 712A>G LINC-JP 16 9010974 9010974 single base substitution T C missense_variant K254E 760A>G LINC-JP 16 9014582 9014582 single base substitution G T downstream_gene_variant LINC-JP 16 9014582 9014582 single base substitution G T intron_variant LINC-JP 16 9024369 9024369 single base substitution C T intron_variant LINC-JP 16 9026919 9026919 single base substitution T C intron_variant LINC-JP 16 9044766 9044766 deletion of <=200bp T - intron_variant LINC-JP 16 9044766 9044766 deletion of <=200bp T - upstream_gene_variant LINC-JP 16 9058343 9058343 single base substitution T C 5_prime_UTR_variant LINC-JP 16 9058343 9058343 single base substitution T C upstream_gene_variant LINC-JP 16 9061208 9061208 deletion of <=200bp A - upstream_gene_variant LIRI-JP 16 8981028 8981028 single base substitution G A downstream_gene_variant LIRI-JP 16 8986395 8986395 single base substitution T G 3_prime_UTR_variant LIRI-JP 16 8986395 8986395 single base substitution T G downstream_gene_variant LIRI-JP 16 8987164 8987164 single base substitution T A 3_prime_UTR_variant LIRI-JP 16 8987164 8987164 single base substitution T A downstream_gene_variant LIRI-JP 16 8988582 8988582 single base substitution C T downstream_gene_variant LIRI-JP 16 8988582 8988582 single base substitution C T intron_variant LIRI-JP 16 8989445 8989445 single base substitution A G downstream_gene_variant LIRI-JP 16 8989445 8989445 single base substitution A G intron_variant LIRI-JP 16 8993072 8993072 single base substitution T A downstream_gene_variant LIRI-JP 16 8993072 8993072 single base substitution T A intron_variant LIRI-JP 16 8993072 8993072 single base substitution T A upstream_gene_variant LIRI-JP 16 8994501 8994501 single base substitution T C downstream_gene_variant LIRI-JP 16 8994501 8994501 single base substitution T C exon_variant LIRI-JP 16 8994501 8994501 single base substitution T C intron_variant LIRI-JP 16 8994501 8994501 single base substitution T C upstream_gene_variant LIRI-JP 16 8995202 8995202 single base substitution T C downstream_gene_variant LIRI-JP 16 8995202 8995202 single base substitution T C intron_variant LIRI-JP 16 8995202 8995202 single base substitution T C upstream_gene_variant LIRI-JP 16 8996475 8996475 single base substitution T G intron_variant LIRI-JP 16 8996475 8996475 single base substitution T G upstream_gene_variant LIRI-JP 16 9000020 9000020 single base substitution T C intron_variant LIRI-JP 16 9000020 9000020 single base substitution T C upstream_gene_variant LIRI-JP 16 9001515 9001515 single base substitution A G intron_variant LIRI-JP 16 9001515 9001515 single base substitution A G upstream_gene_variant LIRI-JP 16 9003374 9003374 single base substitution C G intron_variant LIRI-JP 16 9003374 9003374 single base substitution C G upstream_gene_variant LIRI-JP 16 9004996 9004996 single base substitution G A intron_variant LIRI-JP 16 9005018 9005018 single base substitution C T intron_variant LIRI-JP 16 9005183 9005183 single base substitution A C intron_variant LIRI-JP 16 9005281 9005281 single base substitution G A intron_variant LIRI-JP 16 9007677 9007677 single base substitution G T intron_variant LIRI-JP 16 9009260 9009276 deletion of <=200bp AAAACCTTTAAAAATCA - downstream_gene_variant LIRI-JP 16 9009260 9009276 deletion of <=200bp AAAACCTTTAAAAATCA - intron_variant LIRI-JP 16 9009959 9009959 single base substitution T C downstream_gene_variant LIRI-JP 16 9009959 9009959 single base substitution T C intron_variant LIRI-JP 16 9012059 9012059 single base substitution C A downstream_gene_variant LIRI-JP 16 9012059 9012059 single base substitution C A intron_variant LIRI-JP 16 9012668 9012668 single base substitution T C downstream_gene_variant LIRI-JP 16 9012668 9012668 single base substitution T C intron_variant LIRI-JP 16 9012826 9012826 deletion of <=200bp C - downstream_gene_variant LIRI-JP 16 9012826 9012826 deletion of <=200bp C - intron_variant LIRI-JP 16 9018116 9018116 single base substitution G C intron_variant LIRI-JP 16 9018907 9018907 single base substitution G A intron_variant LIRI-JP 16 9020952 9020952 single base substitution G C intron_variant LIRI-JP 16 9021800 9021800 single base substitution A C intron_variant LIRI-JP 16 9022162 9022165 deletion of <=200bp ATGG - intron_variant LIRI-JP 16 9022170 9022170 single base substitution T C intron_variant LIRI-JP 16 9022747 9022747 single base substitution G A intron_variant LIRI-JP 16 9024758 9024758 single base substitution G A intron_variant LIRI-JP 16 9024960 9024960 single base substitution C T intron_variant LIRI-JP 16 9024990 9024990 single base substitution G A intron_variant LIRI-JP 16 9026751 9026751 single base substitution T A intron_variant LIRI-JP 16 9027340 9027340 single base substitution A G intron_variant LIRI-JP 16 9027342 9027342 single base substitution T A intron_variant LIRI-JP 16 9028392 9028392 single base substitution A G intron_variant LIRI-JP 16 9029082 9029082 single base substitution C A intron_variant LIRI-JP 16 9030161 9030161 single base substitution C A intron_variant LIRI-JP 16 9030161 9030161 single base substitution C A upstream_gene_variant LIRI-JP 16 9030323 9030323 single base substitution T G intron_variant LIRI-JP 16 9030323 9030323 single base substitution T G upstream_gene_variant LIRI-JP 16 9032266 9032266 single base substitution C T intron_variant LIRI-JP 16 9032266 9032266 single base substitution C T upstream_gene_variant LIRI-JP 16 9033028 9033028 single base substitution T C intron_variant LIRI-JP 16 9033028 9033028 single base substitution T C upstream_gene_variant LIRI-JP 16 9035775 9035775 single base substitution T A intron_variant LIRI-JP 16 9038636 9038636 single base substitution T A intron_variant LIRI-JP 16 9044212 9044212 single base substitution A C intron_variant LIRI-JP 16 9044212 9044212 single base substitution A C upstream_gene_variant LIRI-JP 16 9045472 9045472 single base substitution A C intron_variant LIRI-JP 16 9045472 9045472 single base substitution A C upstream_gene_variant LIRI-JP 16 9045623 9045623 single base substitution T C intron_variant LIRI-JP 16 9045623 9045623 single base substitution T C upstream_gene_variant LIRI-JP 16 9049910 9049910 single base substitution T G intron_variant LIRI-JP 16 9050830 9050830 single base substitution C A intron_variant LIRI-JP 16 9050830 9050830 single base substitution C A upstream_gene_variant LIRI-JP 16 9051734 9051734 single base substitution G A intron_variant LIRI-JP 16 9051734 9051734 single base substitution G A upstream_gene_variant LIRI-JP 16 9051823 9051823 single base substitution C G intron_variant LIRI-JP 16 9051823 9051823 single base substitution C G upstream_gene_variant LIRI-JP 16 9052584 9052584 single base substitution G A intron_variant LIRI-JP 16 9052584 9052584 single base substitution G A upstream_gene_variant LIRI-JP 16 9053155 9053155 single base substitution C T intron_variant LIRI-JP 16 9053155 9053155 single base substitution C T upstream_gene_variant LIRI-JP 16 9053470 9053470 single base substitution A G intron_variant LIRI-JP 16 9053470 9053470 single base substitution A G upstream_gene_variant LIRI-JP 16 9058727 9058727 single base substitution T A upstream_gene_variant LUSC-KR 16 8981336 8981336 single base substitution C A downstream_gene_variant LUSC-KR 16 8985472 8985472 single base substitution C A downstream_gene_variant LUSC-KR 16 8994808 8994808 single base substitution T A downstream_gene_variant LUSC-KR 16 8994808 8994808 single base substitution T A intron_variant LUSC-KR 16 8994808 8994808 single base substitution T A upstream_gene_variant LUSC-KR 16 8995049 8995049 single base substitution C G 3_prime_UTR_variant LUSC-KR 16 8995049 8995049 single base substitution C G downstream_gene_variant LUSC-KR 16 8995049 8995049 single base substitution C G exon_variant LUSC-KR 16 8995049 8995049 single base substitution C G missense_variant R598P 1793G>C LUSC-KR 16 8995049 8995049 single base substitution C G missense_variant R681P 2042G>C LUSC-KR 16 8995049 8995049 single base substitution C G missense_variant R697P 2090G>C LUSC-KR 16 8995049 8995049 single base substitution C G upstream_gene_variant LUSC-KR 16 8998231 8998231 single base substitution T C intron_variant LUSC-KR 16 8998231 8998231 single base substitution T C upstream_gene_variant LUSC-KR 16 8998232 8998232 single base substitution G A intron_variant LUSC-KR 16 8998232 8998232 single base substitution G A upstream_gene_variant LUSC-KR 16 9001430 9001430 single base substitution T C intron_variant LUSC-KR 16 9001430 9001430 single base substitution T C upstream_gene_variant LUSC-KR 16 9003350 9003350 single base substitution G C intron_variant LUSC-KR 16 9003350 9003350 single base substitution G C upstream_gene_variant LUSC-KR 16 9005150 9005150 single base substitution T A intron_variant LUSC-KR 16 9010322 9010322 single base substitution C A downstream_gene_variant LUSC-KR 16 9010322 9010322 single base substitution C A intron_variant LUSC-KR 16 9012786 9012786 single base substitution C A downstream_gene_variant LUSC-KR 16 9012786 9012786 single base substitution C A intron_variant LUSC-KR 16 9015258 9015258 single base substitution T C downstream_gene_variant LUSC-KR 16 9015258 9015258 single base substitution T C intron_variant LUSC-KR 16 9016989 9016989 single base substitution C G downstream_gene_variant LUSC-KR 16 9016989 9016989 single base substitution C G intron_variant LUSC-KR 16 9022684 9022684 single base substitution G T intron_variant LUSC-KR 16 9023274 9023274 single base substitution G T 3_prime_UTR_variant LUSC-KR 16 9023274 9023274 single base substitution G T 5_prime_UTR_variant LUSC-KR 16 9023274 9023274 single base substitution G T exon_variant LUSC-KR 16 9023274 9023274 single base substitution G T intron_variant LUSC-KR 16 9030401 9030401 single base substitution T C intron_variant LUSC-KR 16 9030401 9030401 single base substitution T C upstream_gene_variant LUSC-KR 16 9035594 9035594 single base substitution C G intron_variant LUSC-KR 16 9035834 9035834 single base substitution C T intron_variant LUSC-KR 16 9036276 9036276 single base substitution T A intron_variant LUSC-KR 16 9041771 9041771 single base substitution A C intron_variant LUSC-KR 16 9045717 9045717 single base substitution G A intron_variant LUSC-KR 16 9045717 9045717 single base substitution G A upstream_gene_variant LUSC-KR 16 9047382 9047382 single base substitution A G intron_variant LUSC-KR 16 9047382 9047382 single base substitution A G upstream_gene_variant LUSC-KR 16 9051733 9051733 single base substitution T A intron_variant LUSC-KR 16 9051733 9051733 single base substitution T A upstream_gene_variant LUSC-KR 16 9051801 9051801 single base substitution A C intron_variant LUSC-KR 16 9051801 9051801 single base substitution A C upstream_gene_variant LUSC-KR 16 9061817 9061817 single base substitution C T upstream_gene_variant LUSC-US 16 8988925 8988925 single base substitution C T 3_prime_UTR_variant LUSC-US 16 8988925 8988925 single base substitution C T downstream_gene_variant LUSC-US 16 8988925 8988925 single base substitution C T exon_variant LUSC-US 16 8988925 8988925 single base substitution C T missense_variant G1001E 3002G>A LUSC-US 16 8988925 8988925 single base substitution C T missense_variant G902E 2705G>A LUSC-US 16 8988925 8988925 single base substitution C T missense_variant G985E 2954G>A LUSC-US 16 8992280 8992280 single base substitution G A 3_prime_UTR_variant LUSC-US 16 8992280 8992280 single base substitution G A downstream_gene_variant LUSC-US 16 8992280 8992280 single base substitution G A exon_variant LUSC-US 16 8992280 8992280 single base substitution G A synonymous_variant I786I 2358C>T LUSC-US 16 8992280 8992280 single base substitution G A synonymous_variant I869I 2607C>T LUSC-US 16 8992280 8992280 single base substitution G A synonymous_variant I885I 2655C>T LUSC-US 16 8992280 8992280 single base substitution G A upstream_gene_variant LUSC-US 16 8993508 8993508 single base substitution C A 3_prime_UTR_variant LUSC-US 16 8993508 8993508 single base substitution C A downstream_gene_variant LUSC-US 16 8993508 8993508 single base substitution C A exon_variant LUSC-US 16 8993508 8993508 single base substitution C A missense_variant D707Y 2119G>T LUSC-US 16 8993508 8993508 single base substitution C A missense_variant D790Y 2368G>T LUSC-US 16 8993508 8993508 single base substitution C A missense_variant D806Y 2416G>T LUSC-US 16 8993508 8993508 single base substitution C A upstream_gene_variant LUSC-US 16 8996248 8996248 single base substitution C G 3_prime_UTR_variant LUSC-US 16 8996248 8996248 single base substitution C G exon_variant LUSC-US 16 8996248 8996248 single base substitution C G missense_variant G545A 1634G>C LUSC-US 16 8996248 8996248 single base substitution C G missense_variant G628A 1883G>C LUSC-US 16 8996248 8996248 single base substitution C G missense_variant G644A 1931G>C LUSC-US 16 8996248 8996248 single base substitution C G upstream_gene_variant LUSC-US 16 8996252 8996252 single base substitution C T 3_prime_UTR_variant LUSC-US 16 8996252 8996252 single base substitution C T exon_variant LUSC-US 16 8996252 8996252 single base substitution C T missense_variant D544N 1630G>A LUSC-US 16 8996252 8996252 single base substitution C T missense_variant D627N 1879G>A LUSC-US 16 8996252 8996252 single base substitution C T missense_variant D643N 1927G>A LUSC-US 16 8996252 8996252 single base substitution C T upstream_gene_variant LUSC-US 16 9012908 9012908 single base substitution A C 3_prime_UTR_variant LUSC-US 16 9012908 9012908 single base substitution A C downstream_gene_variant LUSC-US 16 9012908 9012908 single base substitution A C exon_variant LUSC-US 16 9012908 9012908 single base substitution A C missense_variant F135V 403T>G LUSC-US 16 9012908 9012908 single base substitution A C missense_variant F218V 652T>G LUSC-US 16 9012908 9012908 single base substitution A C missense_variant F234V 700T>G MALY-DE 16 8981366 8981366 insertion of <=200bp - GT downstream_gene_variant MALY-DE 16 8985504 8985504 single base substitution C T downstream_gene_variant MALY-DE 16 8991908 8991908 single base substitution C T downstream_gene_variant MALY-DE 16 8991908 8991908 single base substitution C T intron_variant MALY-DE 16 8991908 8991908 single base substitution C T upstream_gene_variant MALY-DE 16 8993378 8993378 single base substitution T C downstream_gene_variant MALY-DE 16 8993378 8993378 single base substitution T C exon_variant MALY-DE 16 8993378 8993378 single base substitution T C intron_variant MALY-DE 16 8993378 8993378 single base substitution T C upstream_gene_variant MALY-DE 16 8994461 8994462 deletion of <=200bp TC - 3_prime_UTR_variant MALY-DE 16 8994461 8994462 deletion of <=200bp TC - downstream_gene_variant MALY-DE 16 8994461 8994462 deletion of <=200bp TC - exon_variant MALY-DE 16 8994461 8994462 deletion of <=200bp TC - frameshift_variant R646 MALY-DE 16 8994461 8994462 deletion of <=200bp TC - frameshift_variant R729 MALY-DE 16 8994461 8994462 deletion of <=200bp TC - frameshift_variant R745 MALY-DE 16 8994461 8994462 deletion of <=200bp TC - intron_variant MALY-DE 16 8994461 8994462 deletion of <=200bp TC - upstream_gene_variant MALY-DE 16 8997120 8997120 single base substitution C T splice_region_variant MALY-DE 16 8997120 8997120 single base substitution C T upstream_gene_variant MALY-DE 16 9008321 9008321 single base substitution T G intron_variant MALY-DE 16 9008350 9008350 single base substitution T G intron_variant MALY-DE 16 9011420 9011420 single base substitution G C downstream_gene_variant MALY-DE 16 9011420 9011420 single base substitution G C intron_variant MALY-DE 16 9022519 9022519 single base substitution A G intron_variant MALY-DE 16 9026858 9026858 single base substitution C T intron_variant MALY-DE 16 9028468 9028468 single base substitution G C intron_variant MALY-DE 16 9030967 9030967 single base substitution A T intron_variant MALY-DE 16 9030967 9030967 single base substitution A T upstream_gene_variant MALY-DE 16 9034972 9034972 single base substitution C T intron_variant MALY-DE 16 9034972 9034972 single base substitution C T upstream_gene_variant MALY-DE 16 9035572 9035572 single base substitution G A intron_variant MALY-DE 16 9035572 9035572 single base substitution G A upstream_gene_variant MALY-DE 16 9036292 9036292 single base substitution T A intron_variant MALY-DE 16 9053861 9053861 single base substitution C T intron_variant MALY-DE 16 9053861 9053861 single base substitution C T upstream_gene_variant MALY-DE 16 9056933 9056933 single base substitution G A intron_variant MALY-DE 16 9056933 9056933 single base substitution G A upstream_gene_variant MALY-DE 16 9061495 9061495 single base substitution G T upstream_gene_variant MELA-AU 16 8981521 8981521 single base substitution G A downstream_gene_variant MELA-AU 16 8982122 8982122 single base substitution T A downstream_gene_variant MELA-AU 16 8982318 8982318 single base substitution G A downstream_gene_variant MELA-AU 16 8983270 8983270 single base substitution G A downstream_gene_variant MELA-AU 16 8983943 8983943 single base substitution G A downstream_gene_variant MELA-AU 16 8984006 8984006 single base substitution G A downstream_gene_variant MELA-AU 16 8984023 8984023 single base substitution G A downstream_gene_variant MELA-AU 16 8984120 8984120 single base substitution G A downstream_gene_variant MELA-AU 16 8984254 8984254 single base substitution G A downstream_gene_variant MELA-AU 16 8985048 8985048 single base substitution G A downstream_gene_variant MELA-AU 16 8985081 8985081 single base substitution C T downstream_gene_variant MELA-AU 16 8985232 8985232 single base substitution C T downstream_gene_variant MELA-AU 16 8985321 8985321 single base substitution T C downstream_gene_variant MELA-AU 16 8985735 8985735 single base substitution G A downstream_gene_variant MELA-AU 16 8986516 8986516 single base substitution G A 3_prime_UTR_variant MELA-AU 16 8986516 8986516 single base substitution G A downstream_gene_variant MELA-AU 16 8986583 8986583 single base substitution C T 3_prime_UTR_variant MELA-AU 16 8986583 8986583 single base substitution C T downstream_gene_variant MELA-AU 16 8987493 8987493 single base substitution G A 3_prime_UTR_variant MELA-AU 16 8987493 8987493 single base substitution G A downstream_gene_variant MELA-AU 16 8987732 8987732 single base substitution A C 3_prime_UTR_variant MELA-AU 16 8987732 8987732 single base substitution A C downstream_gene_variant MELA-AU 16 8988061 8988061 single base substitution G A downstream_gene_variant MELA-AU 16 8988061 8988061 single base substitution G A intron_variant MELA-AU 16 8988680 8988680 single base substitution G A 3_prime_UTR_variant MELA-AU 16 8988680 8988680 single base substitution G A downstream_gene_variant MELA-AU 16 8988680 8988680 single base substitution G A synonymous_variant I1008I 3024C>T MELA-AU 16 8988680 8988680 single base substitution G A synonymous_variant I1024I 3072C>T MELA-AU 16 8988680 8988680 single base substitution G A synonymous_variant I925I 2775C>T MELA-AU 16 8989001 8989001 single base substitution G A 3_prime_UTR_variant MELA-AU 16 8989001 8989001 single base substitution G A downstream_gene_variant MELA-AU 16 8989001 8989001 single base substitution G A exon_variant MELA-AU 16 8989001 8989001 single base substitution G A missense_variant P877S 2629C>T MELA-AU 16 8989001 8989001 single base substitution G A missense_variant P960S 2878C>T MELA-AU 16 8989001 8989001 single base substitution G A missense_variant P976S 2926C>T MELA-AU 16 8989166 8989166 single base substitution G A downstream_gene_variant MELA-AU 16 8989166 8989166 single base substitution G A intron_variant MELA-AU 16 8989202 8989202 single base substitution T C downstream_gene_variant MELA-AU 16 8989202 8989202 single base substitution T C intron_variant MELA-AU 16 8989507 8989507 single base substitution G A 3_prime_UTR_variant MELA-AU 16 8989507 8989507 single base substitution G A downstream_gene_variant MELA-AU 16 8989507 8989507 single base substitution G A exon_variant MELA-AU 16 8989507 8989507 single base substitution G A stop_gained R872* 2614C>T MELA-AU 16 8989507 8989507 single base substitution G A stop_gained R955* 2863C>T MELA-AU 16 8989507 8989507 single base substitution G A stop_gained R971* 2911C>T MELA-AU 16 8989530 8989530 single base substitution G A 3_prime_UTR_variant MELA-AU 16 8989530 8989530 single base substitution G A downstream_gene_variant MELA-AU 16 8989530 8989530 single base substitution G A exon_variant MELA-AU 16 8989530 8989530 single base substitution G A missense_variant S864F 2591C>T MELA-AU 16 8989530 8989530 single base substitution G A missense_variant S947F 2840C>T MELA-AU 16 8989530 8989530 single base substitution G A missense_variant S963F 2888C>T MELA-AU 16 8990185 8990185 single base substitution G A downstream_gene_variant MELA-AU 16 8990185 8990185 single base substitution G A intron_variant MELA-AU 16 8991184 8991184 single base substitution G A downstream_gene_variant MELA-AU 16 8991184 8991184 single base substitution G A intron_variant MELA-AU 16 8991184 8991184 single base substitution G A upstream_gene_variant MELA-AU 16 8991556 8991556 single base substitution A C downstream_gene_variant MELA-AU 16 8991556 8991556 single base substitution A C intron_variant MELA-AU 16 8991556 8991556 single base substitution A C upstream_gene_variant MELA-AU 16 8991914 8991914 single base substitution G A downstream_gene_variant MELA-AU 16 8991914 8991914 single base substitution G A intron_variant MELA-AU 16 8991914 8991914 single base substitution G A upstream_gene_variant MELA-AU 16 8993079 8993079 single base substitution G A downstream_gene_variant MELA-AU 16 8993079 8993079 single base substitution G A intron_variant MELA-AU 16 8993079 8993079 single base substitution G A upstream_gene_variant MELA-AU 16 8994176 8994176 single base substitution G A downstream_gene_variant MELA-AU 16 8994176 8994176 single base substitution G A intron_variant MELA-AU 16 8994176 8994176 single base substitution G A upstream_gene_variant MELA-AU 16 8995799 8995799 single base substitution G A downstream_gene_variant MELA-AU 16 8995799 8995799 single base substitution G A exon_variant MELA-AU 16 8995799 8995799 single base substitution G A intron_variant MELA-AU 16 8995799 8995799 single base substitution G A upstream_gene_variant MELA-AU 16 8995819 8995819 single base substitution G A downstream_gene_variant MELA-AU 16 8995819 8995819 single base substitution G A exon_variant MELA-AU 16 8995819 8995819 single base substitution G A intron_variant MELA-AU 16 8995819 8995819 single base substitution G A upstream_gene_variant MELA-AU 16 8996318 8996318 single base substitution G A 3_prime_UTR_variant MELA-AU 16 8996318 8996318 single base substitution G A exon_variant MELA-AU 16 8996318 8996318 single base substitution G A stop_gained R522* 1564C>T MELA-AU 16 8996318 8996318 single base substitution G A stop_gained R605* 1813C>T MELA-AU 16 8996318 8996318 single base substitution G A stop_gained R621* 1861C>T MELA-AU 16 8996318 8996318 single base substitution G A upstream_gene_variant MELA-AU 16 8996978 8996978 single base substitution G A intron_variant MELA-AU 16 8996978 8996978 single base substitution G A upstream_gene_variant MELA-AU 16 8997543 8997543 single base substitution G A intron_variant MELA-AU 16 8997543 8997543 single base substitution G A upstream_gene_variant MELA-AU 16 8997653 8997653 single base substitution G A intron_variant MELA-AU 16 8997653 8997653 single base substitution G A upstream_gene_variant MELA-AU 16 8997923 8997923 single base substitution A G intron_variant MELA-AU 16 8997923 8997923 single base substitution A G upstream_gene_variant MELA-AU 16 8998092 8998092 single base substitution T C intron_variant MELA-AU 16 8998092 8998092 single base substitution T C upstream_gene_variant MELA-AU 16 8998267 8998267 single base substitution G A intron_variant MELA-AU 16 8998267 8998267 single base substitution G A upstream_gene_variant MELA-AU 16 8998582 8998582 single base substitution G A intron_variant MELA-AU 16 8998582 8998582 single base substitution G A upstream_gene_variant MELA-AU 16 9000445 9000446 multiple base substitution (>=2bp and <=200bp) AG TA splice_region_variant MELA-AU 16 9000445 9000446 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 16 9001436 9001436 single base substitution G A intron_variant MELA-AU 16 9001436 9001436 single base substitution G A upstream_gene_variant MELA-AU 16 9001481 9001481 single base substitution G A intron_variant MELA-AU 16 9001481 9001481 single base substitution G A upstream_gene_variant MELA-AU 16 9001565 9001565 single base substitution G A intron_variant MELA-AU 16 9001565 9001565 single base substitution G A upstream_gene_variant MELA-AU 16 9001707 9001707 deletion of <=200bp A - intron_variant MELA-AU 16 9001707 9001707 deletion of <=200bp A - upstream_gene_variant MELA-AU 16 9002897 9002897 single base substitution G A intron_variant MELA-AU 16 9002897 9002897 single base substitution G A upstream_gene_variant MELA-AU 16 9002984 9002984 single base substitution G A intron_variant MELA-AU 16 9002984 9002984 single base substitution G A upstream_gene_variant MELA-AU 16 9003150 9003150 single base substitution G A intron_variant MELA-AU 16 9003150 9003150 single base substitution G A upstream_gene_variant MELA-AU 16 9003686 9003686 single base substitution G A intron_variant MELA-AU 16 9004286 9004287 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 16 9005227 9005227 single base substitution G A intron_variant MELA-AU 16 9007057 9007057 single base substitution A G intron_variant MELA-AU 16 9007269 9007269 single base substitution G A intron_variant MELA-AU 16 9007282 9007282 single base substitution G C intron_variant MELA-AU 16 9007292 9007292 single base substitution G C intron_variant MELA-AU 16 9008684 9008684 single base substitution G A intron_variant MELA-AU 16 9009193 9009193 single base substitution G A 3_prime_UTR_variant MELA-AU 16 9009193 9009193 single base substitution G A exon_variant MELA-AU 16 9009193 9009193 single base substitution G A synonymous_variant I233I 699C>T MELA-AU 16 9009193 9009193 single base substitution G A synonymous_variant I316I 948C>T MELA-AU 16 9009193 9009193 single base substitution G A synonymous_variant I332I 996C>T MELA-AU 16 9009317 9009317 single base substitution G A 3_prime_UTR_variant MELA-AU 16 9009317 9009317 single base substitution G A downstream_gene_variant MELA-AU 16 9009317 9009317 single base substitution G A exon_variant MELA-AU 16 9009317 9009317 single base substitution G A synonymous_variant F225F 675C>T MELA-AU 16 9009317 9009317 single base substitution G A synonymous_variant F308F 924C>T MELA-AU 16 9009317 9009317 single base substitution G A synonymous_variant F324F 972C>T MELA-AU 16 9009377 9009377 single base substitution G A 3_prime_UTR_variant MELA-AU 16 9009377 9009377 single base substitution G A downstream_gene_variant MELA-AU 16 9009377 9009377 single base substitution G A exon_variant MELA-AU 16 9009377 9009377 single base substitution G A synonymous_variant L205L 615C>T MELA-AU 16 9009377 9009377 single base substitution G A synonymous_variant L288L 864C>T MELA-AU 16 9009377 9009377 single base substitution G A synonymous_variant L304L 912C>T MELA-AU 16 9009550 9009550 single base substitution G A downstream_gene_variant MELA-AU 16 9009550 9009550 single base substitution G A intron_variant MELA-AU 16 9010001 9010001 single base substitution G A downstream_gene_variant MELA-AU 16 9010001 9010001 single base substitution G A intron_variant MELA-AU 16 9011125 9011125 single base substitution G A downstream_gene_variant MELA-AU 16 9011125 9011125 single base substitution G A intron_variant MELA-AU 16 9011495 9011495 single base substitution C T downstream_gene_variant MELA-AU 16 9011495 9011495 single base substitution C T intron_variant MELA-AU 16 9011615 9011615 single base substitution A G downstream_gene_variant MELA-AU 16 9011615 9011615 single base substitution A G intron_variant MELA-AU 16 9011671 9011671 single base substitution G T downstream_gene_variant MELA-AU 16 9011671 9011671 single base substitution G T intron_variant MELA-AU 16 9011996 9011996 single base substitution T A downstream_gene_variant MELA-AU 16 9011996 9011996 single base substitution T A intron_variant MELA-AU 16 9012866 9012866 single base substitution G A downstream_gene_variant MELA-AU 16 9012866 9012866 single base substitution G A intron_variant MELA-AU 16 9013021 9013021 single base substitution G A downstream_gene_variant MELA-AU 16 9013021 9013021 single base substitution G A intron_variant MELA-AU 16 9013023 9013023 single base substitution G A downstream_gene_variant MELA-AU 16 9013023 9013023 single base substitution G A intron_variant MELA-AU 16 9013326 9013326 single base substitution A T downstream_gene_variant MELA-AU 16 9013326 9013326 single base substitution A T intron_variant MELA-AU 16 9014773 9014773 single base substitution G A downstream_gene_variant MELA-AU 16 9014773 9014773 single base substitution G A intron_variant MELA-AU 16 9014860 9014860 single base substitution G A downstream_gene_variant MELA-AU 16 9014860 9014860 single base substitution G A intron_variant MELA-AU 16 9015000 9015000 single base substitution A G downstream_gene_variant MELA-AU 16 9015000 9015000 single base substitution A G intron_variant MELA-AU 16 9015343 9015343 single base substitution A T downstream_gene_variant MELA-AU 16 9015343 9015343 single base substitution A T intron_variant MELA-AU 16 9016306 9016306 single base substitution C T downstream_gene_variant MELA-AU 16 9016306 9016306 single base substitution C T intron_variant MELA-AU 16 9016395 9016395 single base substitution G A downstream_gene_variant MELA-AU 16 9016395 9016395 single base substitution G A intron_variant MELA-AU 16 9016881 9016881 single base substitution G C downstream_gene_variant MELA-AU 16 9016881 9016881 single base substitution G C intron_variant MELA-AU 16 9016942 9016942 single base substitution G A downstream_gene_variant MELA-AU 16 9016942 9016942 single base substitution G A intron_variant MELA-AU 16 9018777 9018777 single base substitution C T intron_variant MELA-AU 16 9020255 9020255 single base substitution G A intron_variant MELA-AU 16 9021607 9021607 single base substitution C T intron_variant MELA-AU 16 9021793 9021793 single base substitution G T intron_variant MELA-AU 16 9022128 9022128 single base substitution G A intron_variant MELA-AU 16 9022204 9022204 single base substitution G A intron_variant MELA-AU 16 9022544 9022544 single base substitution G A intron_variant MELA-AU 16 9022883 9022883 single base substitution C T intron_variant MELA-AU 16 9022929 9022929 single base substitution G A intron_variant MELA-AU 16 9022965 9022965 single base substitution C T intron_variant MELA-AU 16 9023782 9023782 single base substitution G A intron_variant MELA-AU 16 9024251 9024251 single base substitution C T 5_prime_UTR_variant MELA-AU 16 9024251 9024251 single base substitution C T exon_variant MELA-AU 16 9024251 9024251 single base substitution C T missense_variant G12E 35G>A MELA-AU 16 9024251 9024251 single base substitution C T missense_variant G14E 41G>A MELA-AU 16 9024251 9024251 single base substitution C T missense_variant G28E 83G>A MELA-AU 16 9024433 9024433 single base substitution C T intron_variant MELA-AU 16 9025492 9025492 single base substitution G A intron_variant MELA-AU 16 9026931 9026931 single base substitution G A intron_variant MELA-AU 16 9027661 9027661 single base substitution G A intron_variant MELA-AU 16 9028007 9028007 single base substitution G A intron_variant MELA-AU 16 9028544 9028544 single base substitution G A intron_variant MELA-AU 16 9028892 9028892 single base substitution G A intron_variant MELA-AU 16 9030368 9030368 single base substitution C T intron_variant MELA-AU 16 9030368 9030368 single base substitution C T upstream_gene_variant MELA-AU 16 9030443 9030443 single base substitution C T 5_prime_UTR_variant MELA-AU 16 9030443 9030443 single base substitution C T exon_variant MELA-AU 16 9030443 9030443 single base substitution C T intron_variant MELA-AU 16 9030443 9030443 single base substitution C T missense_variant E10K 28G>A MELA-AU 16 9030443 9030443 single base substitution C T upstream_gene_variant MELA-AU 16 9031070 9031070 single base substitution T A intron_variant MELA-AU 16 9031070 9031070 single base substitution T A upstream_gene_variant MELA-AU 16 9031161 9031161 single base substitution G A intron_variant MELA-AU 16 9031161 9031161 single base substitution G A upstream_gene_variant MELA-AU 16 9031545 9031545 single base substitution G A intron_variant MELA-AU 16 9031545 9031545 single base substitution G A upstream_gene_variant MELA-AU 16 9031677 9031677 single base substitution G A intron_variant MELA-AU 16 9031677 9031677 single base substitution G A upstream_gene_variant MELA-AU 16 9032078 9032078 single base substitution T A intron_variant MELA-AU 16 9032078 9032078 single base substitution T A upstream_gene_variant MELA-AU 16 9032080 9032080 single base substitution A C intron_variant MELA-AU 16 9032080 9032080 single base substitution A C upstream_gene_variant MELA-AU 16 9032360 9032360 single base substitution G A intron_variant MELA-AU 16 9032360 9032360 single base substitution G A upstream_gene_variant MELA-AU 16 9032517 9032517 single base substitution G A intron_variant MELA-AU 16 9032517 9032517 single base substitution G A upstream_gene_variant MELA-AU 16 9032970 9032970 single base substitution C T intron_variant MELA-AU 16 9032970 9032970 single base substitution C T upstream_gene_variant MELA-AU 16 9033741 9033741 single base substitution G A intron_variant MELA-AU 16 9033741 9033741 single base substitution G A upstream_gene_variant MELA-AU 16 9034578 9034578 single base substitution G A intron_variant MELA-AU 16 9034578 9034578 single base substitution G A upstream_gene_variant MELA-AU 16 9034878 9034878 single base substitution G A intron_variant MELA-AU 16 9034878 9034878 single base substitution G A upstream_gene_variant MELA-AU 16 9036180 9036180 single base substitution G A intron_variant MELA-AU 16 9036839 9036839 single base substitution G A intron_variant MELA-AU 16 9038586 9038586 single base substitution G A intron_variant MELA-AU 16 9039097 9039097 single base substitution C T intron_variant MELA-AU 16 9041254 9041254 single base substitution G A intron_variant MELA-AU 16 9041733 9041733 single base substitution C T intron_variant MELA-AU 16 9043220 9043220 single base substitution G A intron_variant MELA-AU 16 9043606 9043606 single base substitution C T intron_variant MELA-AU 16 9043606 9043606 single base substitution C T upstream_gene_variant MELA-AU 16 9044363 9044363 single base substitution C T intron_variant MELA-AU 16 9044363 9044363 single base substitution C T upstream_gene_variant MELA-AU 16 9045323 9045323 single base substitution C T intron_variant MELA-AU 16 9045323 9045323 single base substitution C T upstream_gene_variant MELA-AU 16 9045702 9045702 single base substitution A T intron_variant MELA-AU 16 9045702 9045702 single base substitution A T upstream_gene_variant MELA-AU 16 9049675 9049675 single base substitution T C intron_variant MELA-AU 16 9050380 9050380 single base substitution G A intron_variant MELA-AU 16 9050380 9050380 single base substitution G A upstream_gene_variant MELA-AU 16 9051566 9051566 single base substitution G A intron_variant MELA-AU 16 9051566 9051566 single base substitution G A upstream_gene_variant MELA-AU 16 9051630 9051631 multiple base substitution (>=2bp and <=200bp) AC CA intron_variant MELA-AU 16 9051630 9051631 multiple base substitution (>=2bp and <=200bp) AC CA upstream_gene_variant MELA-AU 16 9053226 9053226 single base substitution A T intron_variant MELA-AU 16 9053226 9053226 single base substitution A T upstream_gene_variant MELA-AU 16 9053241 9053241 single base substitution C T intron_variant MELA-AU 16 9053241 9053241 single base substitution C T upstream_gene_variant MELA-AU 16 9053660 9053660 single base substitution A G intron_variant MELA-AU 16 9053660 9053660 single base substitution A G upstream_gene_variant MELA-AU 16 9055726 9055726 single base substitution G A intron_variant MELA-AU 16 9056199 9056200 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 16 9058744 9058744 single base substitution G A upstream_gene_variant MELA-AU 16 9059508 9059508 single base substitution C T upstream_gene_variant MELA-AU 16 9059910 9059910 single base substitution G A upstream_gene_variant MELA-AU 16 9059936 9059936 single base substitution T C upstream_gene_variant MELA-AU 16 9060037 9060037 single base substitution G A upstream_gene_variant MELA-AU 16 9060530 9060530 single base substitution G A upstream_gene_variant MELA-AU 16 9061223 9061223 single base substitution C T upstream_gene_variant MELA-AU 16 9061761 9061761 single base substitution A G upstream_gene_variant MELA-AU 16 9061874 9061874 single base substitution G A upstream_gene_variant MELA-AU 16 9062014 9062014 single base substitution T C upstream_gene_variant MELA-AU 16 9062398 9062398 single base substitution G A upstream_gene_variant MELA-AU 16 9062452 9062452 single base substitution T A upstream_gene_variant MELA-AU 16 9062620 9062620 single base substitution G A upstream_gene_variant MELA-AU 16 9063008 9063008 single base substitution T G upstream_gene_variant ORCA-IN 16 8996290 8996290 single base substitution T C 3_prime_UTR_variant ORCA-IN 16 8996290 8996290 single base substitution T C exon_variant ORCA-IN 16 8996290 8996290 single base substitution T C missense_variant N531S 1592A>G ORCA-IN 16 8996290 8996290 single base substitution T C missense_variant N614S 1841A>G ORCA-IN 16 8996290 8996290 single base substitution T C missense_variant N630S 1889A>G ORCA-IN 16 8996290 8996290 single base substitution T C upstream_gene_variant ORCA-IN 16 8998407 8998407 single base substitution G A 3_prime_UTR_variant ORCA-IN 16 8998407 8998407 single base substitution G A intron_variant ORCA-IN 16 8998407 8998407 single base substitution G A missense_variant A431V 1292C>T ORCA-IN 16 8998407 8998407 single base substitution G A missense_variant A514V 1541C>T ORCA-IN 16 8998407 8998407 single base substitution G A missense_variant A530V 1589C>T ORCA-IN 16 8998407 8998407 single base substitution G A upstream_gene_variant ORCA-IN 16 9010914 9010914 single base substitution C G 3_prime_UTR_variant ORCA-IN 16 9010914 9010914 single base substitution C G downstream_gene_variant ORCA-IN 16 9010914 9010914 single base substitution C G exon_variant ORCA-IN 16 9010914 9010914 single base substitution C G missense_variant V175L 523G>C ORCA-IN 16 9010914 9010914 single base substitution C G missense_variant V258L 772G>C ORCA-IN 16 9010914 9010914 single base substitution C G missense_variant V274L 820G>C ORCA-IN 16 9011882 9011882 single base substitution C T downstream_gene_variant ORCA-IN 16 9011882 9011882 single base substitution C T intron_variant OV-AU 16 8984411 8984411 single base substitution C T downstream_gene_variant OV-AU 16 8990615 8990615 single base substitution C T downstream_gene_variant OV-AU 16 8990615 8990615 single base substitution C T intron_variant OV-AU 16 8994479 8994479 single base substitution T C 3_prime_UTR_variant OV-AU 16 8994479 8994479 single base substitution T C downstream_gene_variant OV-AU 16 8994479 8994479 single base substitution T C exon_variant OV-AU 16 8994479 8994479 single base substitution T C intron_variant OV-AU 16 8994479 8994479 single base substitution T C synonymous_variant K640K 1920A>G OV-AU 16 8994479 8994479 single base substitution T C synonymous_variant K723K 2169A>G OV-AU 16 8994479 8994479 single base substitution T C synonymous_variant K739K 2217A>G OV-AU 16 8994479 8994479 single base substitution T C upstream_gene_variant OV-AU 16 8995050 8995050 single base substitution G A 3_prime_UTR_variant OV-AU 16 8995050 8995050 single base substitution G A downstream_gene_variant OV-AU 16 8995050 8995050 single base substitution G A exon_variant OV-AU 16 8995050 8995050 single base substitution G A missense_variant R598W 1792C>T OV-AU 16 8995050 8995050 single base substitution G A missense_variant R681W 2041C>T OV-AU 16 8995050 8995050 single base substitution G A missense_variant R697W 2089C>T OV-AU 16 8995050 8995050 single base substitution G A upstream_gene_variant OV-AU 16 8995677 8995677 single base substitution C T downstream_gene_variant OV-AU 16 8995677 8995677 single base substitution C T intron_variant OV-AU 16 8995677 8995677 single base substitution C T upstream_gene_variant OV-AU 16 8998569 8998569 single base substitution G T intron_variant OV-AU 16 8998569 8998569 single base substitution G T upstream_gene_variant OV-AU 16 9021494 9021494 single base substitution A G intron_variant OV-AU 16 9028663 9028663 single base substitution C A intron_variant OV-AU 16 9029746 9029746 single base substitution C G intron_variant OV-AU 16 9029746 9029746 single base substitution C G upstream_gene_variant OV-AU 16 9044102 9044102 single base substitution A C intron_variant OV-AU 16 9044102 9044102 single base substitution A C upstream_gene_variant OV-AU 16 9047631 9047631 single base substitution C G intron_variant OV-AU 16 9047631 9047631 single base substitution C G upstream_gene_variant OV-AU 16 9050359 9050359 single base substitution C A intron_variant OV-AU 16 9050359 9050359 single base substitution C A upstream_gene_variant OV-AU 16 9050741 9050741 single base substitution A C intron_variant OV-AU 16 9050741 9050741 single base substitution A C upstream_gene_variant OV-AU 16 9052644 9052644 single base substitution C A intron_variant OV-AU 16 9052644 9052644 single base substitution C A upstream_gene_variant OV-AU 16 9060328 9060328 single base substitution C T upstream_gene_variant OV-AU 16 9062000 9062000 single base substitution G A upstream_gene_variant OV-US 16 8990874 8990874 single base substitution T A 3_prime_UTR_variant OV-US 16 8990874 8990874 single base substitution T A downstream_gene_variant OV-US 16 8990874 8990874 single base substitution T A exon_variant OV-US 16 8990874 8990874 single base substitution T A missense_variant K835I 2504A>T OV-US 16 8990874 8990874 single base substitution T A missense_variant K918I 2753A>T OV-US 16 8990874 8990874 single base substitution T A missense_variant K934I 2801A>T OV-US 16 9024254 9024254 single base substitution G C missense_variant A11G 32C>G OV-US 16 9024254 9024254 single base substitution G C missense_variant A13G 38C>G OV-US 16 9024254 9024254 single base substitution G C missense_variant A27G 80C>G OV-US 16 9024254 9024254 single base substitution G C splice_region_variant PACA-AU 16 8985343 8985343 single base substitution G T downstream_gene_variant PACA-AU 16 8987323 8987323 single base substitution C T 3_prime_UTR_variant PACA-AU 16 8987323 8987323 single base substitution C T downstream_gene_variant PACA-AU 16 8990921 8990921 single base substitution G A 3_prime_UTR_variant PACA-AU 16 8990921 8990921 single base substitution G A downstream_gene_variant PACA-AU 16 8990921 8990921 single base substitution G A exon_variant PACA-AU 16 8990921 8990921 single base substitution G A synonymous_variant V819V 2457C>T PACA-AU 16 8990921 8990921 single base substitution G A synonymous_variant V902V 2706C>T PACA-AU 16 8990921 8990921 single base substitution G A synonymous_variant V918V 2754C>T PACA-AU 16 8995420 8995420 single base substitution G C downstream_gene_variant PACA-AU 16 8995420 8995420 single base substitution G C intron_variant PACA-AU 16 8995420 8995420 single base substitution G C upstream_gene_variant PACA-AU 16 8996702 8996702 single base substitution G A intron_variant PACA-AU 16 8996702 8996702 single base substitution G A upstream_gene_variant PACA-AU 16 8996706 8996706 single base substitution C A intron_variant PACA-AU 16 8996706 8996706 single base substitution C A upstream_gene_variant PACA-AU 16 8998125 8998125 single base substitution G A intron_variant PACA-AU 16 8998125 8998125 single base substitution G A upstream_gene_variant PACA-AU 16 9001413 9001414 deletion of <=200bp AC - intron_variant PACA-AU 16 9001413 9001414 deletion of <=200bp AC - upstream_gene_variant PACA-AU 16 9006550 9006550 single base substitution G A intron_variant PACA-AU 16 9006737 9006737 insertion of <=200bp - AC intron_variant PACA-AU 16 9022914 9022914 single base substitution G A intron_variant PACA-AU 16 9031091 9031091 single base substitution G A intron_variant PACA-AU 16 9031091 9031091 single base substitution G A upstream_gene_variant PACA-AU 16 9056555 9056555 single base substitution A C intron_variant PACA-AU 16 9056555 9056555 single base substitution A C upstream_gene_variant PACA-AU 16 9057716 9057716 single base substitution G A intron_variant PACA-AU 16 9057716 9057716 single base substitution G A upstream_gene_variant PACA-AU 16 9063122 9063122 single base substitution G T upstream_gene_variant PACA-CA 16 8981923 8981923 single base substitution T A downstream_gene_variant PACA-CA 16 8987213 8987213 single base substitution T C 3_prime_UTR_variant PACA-CA 16 8987213 8987213 single base substitution T C downstream_gene_variant PACA-CA 16 8988782 8988782 single base substitution G A downstream_gene_variant PACA-CA 16 8988782 8988782 single base substitution G A intron_variant PACA-CA 16 8988845 8988845 single base substitution C T downstream_gene_variant PACA-CA 16 8988845 8988845 single base substitution C T intron_variant PACA-CA 16 8989840 8989840 single base substitution C T downstream_gene_variant PACA-CA 16 8989840 8989840 single base substitution C T intron_variant PACA-CA 16 8990622 8990622 single base substitution C A downstream_gene_variant PACA-CA 16 8990622 8990622 single base substitution C A intron_variant PACA-CA 16 8991870 8991870 single base substitution C G downstream_gene_variant PACA-CA 16 8991870 8991870 single base substitution C G intron_variant PACA-CA 16 8991870 8991870 single base substitution C G upstream_gene_variant PACA-CA 16 8991871 8991871 single base substitution C T downstream_gene_variant PACA-CA 16 8991871 8991871 single base substitution C T intron_variant PACA-CA 16 8991871 8991871 single base substitution C T upstream_gene_variant PACA-CA 16 8992369 8992369 single base substitution C A downstream_gene_variant PACA-CA 16 8992369 8992369 single base substitution C A exon_variant PACA-CA 16 8992369 8992369 single base substitution C A intron_variant PACA-CA 16 8992369 8992369 single base substitution C A upstream_gene_variant PACA-CA 16 8993587 8993587 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 16 8993587 8993587 deletion of <=200bp T - downstream_gene_variant PACA-CA 16 8993587 8993587 deletion of <=200bp T - exon_variant PACA-CA 16 8993587 8993587 deletion of <=200bp T - frameshift_variant E680 PACA-CA 16 8993587 8993587 deletion of <=200bp T - frameshift_variant E763 PACA-CA 16 8993587 8993587 deletion of <=200bp T - frameshift_variant E779 PACA-CA 16 8993587 8993587 deletion of <=200bp T - upstream_gene_variant PACA-CA 16 8995236 8995236 single base substitution A G downstream_gene_variant PACA-CA 16 8995236 8995236 single base substitution A G intron_variant PACA-CA 16 8995236 8995236 single base substitution A G upstream_gene_variant PACA-CA 16 8996576 8996576 single base substitution C T intron_variant PACA-CA 16 8996576 8996576 single base substitution C T upstream_gene_variant PACA-CA 16 8997648 8997648 single base substitution C T intron_variant PACA-CA 16 8997648 8997648 single base substitution C T upstream_gene_variant PACA-CA 16 8999723 8999723 single base substitution C T intron_variant PACA-CA 16 8999723 8999723 single base substitution C T upstream_gene_variant PACA-CA 16 9003174 9003174 single base substitution C T intron_variant PACA-CA 16 9003174 9003174 single base substitution C T upstream_gene_variant PACA-CA 16 9005407 9005407 single base substitution C G intron_variant PACA-CA 16 9010245 9010245 single base substitution T C downstream_gene_variant PACA-CA 16 9010245 9010245 single base substitution T C intron_variant PACA-CA 16 9010552 9010552 single base substitution A T downstream_gene_variant PACA-CA 16 9010552 9010552 single base substitution A T intron_variant PACA-CA 16 9010861 9010861 single base substitution A T downstream_gene_variant PACA-CA 16 9010861 9010861 single base substitution A T intron_variant PACA-CA 16 9013169 9013169 single base substitution C T downstream_gene_variant PACA-CA 16 9013169 9013169 single base substitution C T intron_variant PACA-CA 16 9014681 9014681 single base substitution A C downstream_gene_variant PACA-CA 16 9014681 9014681 single base substitution A C intron_variant PACA-CA 16 9015277 9015277 single base substitution T A downstream_gene_variant PACA-CA 16 9015277 9015277 single base substitution T A intron_variant PACA-CA 16 9015310 9015310 single base substitution T G downstream_gene_variant PACA-CA 16 9015310 9015310 single base substitution T G intron_variant PACA-CA 16 9016407 9016407 single base substitution G A downstream_gene_variant PACA-CA 16 9016407 9016407 single base substitution G A intron_variant PACA-CA 16 9017275 9017275 deletion of <=200bp A - intron_variant PACA-CA 16 9017275 9017275 deletion of <=200bp A - splice_region_variant PACA-CA 16 9018419 9018419 single base substitution G C intron_variant PACA-CA 16 9019026 9019026 single base substitution G A intron_variant PACA-CA 16 9022313 9022313 single base substitution A G intron_variant PACA-CA 16 9022997 9022997 single base substitution T C intron_variant PACA-CA 16 9029822 9029822 single base substitution T G intron_variant PACA-CA 16 9029822 9029822 single base substitution T G upstream_gene_variant PACA-CA 16 9031090 9031090 single base substitution C A intron_variant PACA-CA 16 9031090 9031090 single base substitution C A upstream_gene_variant PACA-CA 16 9032226 9032226 single base substitution T G intron_variant PACA-CA 16 9032226 9032226 single base substitution T G upstream_gene_variant PACA-CA 16 9034942 9034942 single base substitution C T intron_variant PACA-CA 16 9034942 9034942 single base substitution C T upstream_gene_variant PACA-CA 16 9042494 9042494 single base substitution G A intron_variant PACA-CA 16 9043735 9043735 single base substitution G T intron_variant PACA-CA 16 9043735 9043735 single base substitution G T upstream_gene_variant PACA-CA 16 9048718 9048718 single base substitution G A intron_variant PACA-CA 16 9051604 9051604 single base substitution A C intron_variant PACA-CA 16 9051604 9051604 single base substitution A C upstream_gene_variant PACA-CA 16 9062462 9062462 single base substitution T A upstream_gene_variant PACA-CA 16 9063364 9063364 single base substitution A G upstream_gene_variant PAEN-AU 16 9022914 9022914 single base substitution G A intron_variant PAEN-AU 16 9053405 9053405 single base substitution C T intron_variant PAEN-AU 16 9053405 9053405 single base substitution C T upstream_gene_variant PAEN-IT 16 9013874 9013874 single base substitution C A downstream_gene_variant PAEN-IT 16 9013874 9013874 single base substitution C A intron_variant PBCA-DE 16 8987504 8987504 single base substitution A G 3_prime_UTR_variant PBCA-DE 16 8987504 8987504 single base substitution A G downstream_gene_variant PBCA-DE 16 8996063 8996063 single base substitution C T exon_variant PBCA-DE 16 8996063 8996063 single base substitution C T intron_variant PBCA-DE 16 8996063 8996063 single base substitution C T upstream_gene_variant PBCA-DE 16 9008540 9008540 single base substitution C T intron_variant PBCA-DE 16 9014021 9014021 single base substitution G T downstream_gene_variant PBCA-DE 16 9014021 9014021 single base substitution G T intron_variant PBCA-DE 16 9014022 9014022 single base substitution G T downstream_gene_variant PBCA-DE 16 9014022 9014022 single base substitution G T intron_variant PBCA-DE 16 9014363 9014363 single base substitution A G downstream_gene_variant PBCA-DE 16 9014363 9014363 single base substitution A G intron_variant PBCA-DE 16 9030671 9030671 single base substitution G T intron_variant PBCA-DE 16 9030671 9030671 single base substitution G T upstream_gene_variant PBCA-DE 16 9032568 9032568 insertion of <=200bp - AA intron_variant PBCA-DE 16 9032568 9032568 insertion of <=200bp - AA upstream_gene_variant PBCA-DE 16 9051641 9051641 single base substitution T A intron_variant PBCA-DE 16 9051641 9051641 single base substitution T A upstream_gene_variant PBCA-DE 16 9053194 9053194 single base substitution C T intron_variant PBCA-DE 16 9053194 9053194 single base substitution C T upstream_gene_variant PRAD-CA 16 8982215 8982215 single base substitution G C downstream_gene_variant PRAD-CA 16 9004445 9004445 single base substitution C G intron_variant PRAD-CA 16 9040147 9040147 single base substitution C A intron_variant PRAD-UK 16 8987444 8987444 single base substitution G T 3_prime_UTR_variant PRAD-UK 16 8987444 8987444 single base substitution G T downstream_gene_variant PRAD-UK 16 8990981 8990981 single base substitution G A downstream_gene_variant PRAD-UK 16 8990981 8990981 single base substitution G A exon_variant PRAD-UK 16 8990981 8990981 single base substitution G A intron_variant PRAD-UK 16 9002764 9002764 single base substitution A C intron_variant PRAD-UK 16 9002764 9002764 single base substitution A C upstream_gene_variant PRAD-UK 16 9008690 9008690 single base substitution C A intron_variant PRAD-UK 16 9023635 9023635 single base substitution G A intron_variant PRAD-UK 16 9025456 9025456 single base substitution A C intron_variant PRAD-UK 16 9031620 9031620 single base substitution A C intron_variant PRAD-UK 16 9031620 9031620 single base substitution A C upstream_gene_variant PRAD-UK 16 9033199 9033199 single base substitution A T intron_variant PRAD-UK 16 9033199 9033199 single base substitution A T upstream_gene_variant PRAD-UK 16 9041488 9041488 single base substitution C A intron_variant PRAD-UK 16 9044742 9044742 single base substitution C T intron_variant PRAD-UK 16 9044742 9044742 single base substitution C T upstream_gene_variant PRAD-UK 16 9046097 9046097 single base substitution C A intron_variant PRAD-UK 16 9046097 9046097 single base substitution C A upstream_gene_variant PRAD-UK 16 9047417 9047417 single base substitution C G intron_variant PRAD-UK 16 9047417 9047417 single base substitution C G upstream_gene_variant PRAD-UK 16 9047495 9047495 single base substitution C G intron_variant PRAD-UK 16 9047495 9047495 single base substitution C G upstream_gene_variant PRAD-UK 16 9056506 9056506 single base substitution G T intron_variant PRAD-UK 16 9056506 9056506 single base substitution G T upstream_gene_variant PRAD-UK 16 9056596 9056596 single base substitution A C intron_variant PRAD-UK 16 9056596 9056596 single base substitution A C upstream_gene_variant PRAD-UK 16 9060698 9060698 single base substitution G A upstream_gene_variant READ-US 16 8987864 8987864 single base substitution G C 3_prime_UTR_variant READ-US 16 8987864 8987864 single base substitution G C downstream_gene_variant READ-US 16 8987864 8987864 single base substitution G C missense_variant I1001M 3003C>G READ-US 16 8987864 8987864 single base substitution G C missense_variant I1084M 3252C>G READ-US 16 8987864 8987864 single base substitution G C missense_variant I1100M 3300C>G READ-US 16 9017144 9017144 single base substitution C T 3_prime_UTR_variant READ-US 16 9017144 9017144 single base substitution C T downstream_gene_variant READ-US 16 9017144 9017144 single base substitution C T exon_variant READ-US 16 9017144 9017144 single base substitution C T intron_variant READ-US 16 9017144 9017144 single base substitution C T missense_variant R104H 311G>A READ-US 16 9017144 9017144 single base substitution C T missense_variant R46H 137G>A READ-US 16 9017144 9017144 single base substitution C T missense_variant R5H 14G>A READ-US 16 9017144 9017144 single base substitution C T missense_variant R88H 263G>A READ-US 16 9017144 9017144 single base substitution C T missense_variant R90H 269G>A RECA-EU 16 8984227 8984227 single base substitution C T downstream_gene_variant RECA-EU 16 9001573 9001573 single base substitution A C intron_variant RECA-EU 16 9001573 9001573 single base substitution A C upstream_gene_variant RECA-EU 16 9005651 9005651 single base substitution G A intron_variant RECA-EU 16 9008331 9008331 single base substitution A C intron_variant RECA-EU 16 9011127 9011127 single base substitution T A downstream_gene_variant RECA-EU 16 9011127 9011127 single base substitution T A intron_variant RECA-EU 16 9021961 9021961 single base substitution T G intron_variant RECA-EU 16 9030924 9030924 single base substitution T A intron_variant RECA-EU 16 9030924 9030924 single base substitution T A upstream_gene_variant RECA-EU 16 9031714 9031714 single base substitution A T intron_variant RECA-EU 16 9031714 9031714 single base substitution A T upstream_gene_variant RECA-EU 16 9043899 9043899 single base substitution C T intron_variant RECA-EU 16 9043899 9043899 single base substitution C T upstream_gene_variant RECA-EU 16 9054674 9054674 single base substitution G C intron_variant RECA-EU 16 9054674 9054674 single base substitution G C upstream_gene_variant RECA-EU 16 9061153 9061153 single base substitution G A upstream_gene_variant SKCA-BR 16 8983677 8983677 single base substitution G A downstream_gene_variant SKCA-BR 16 8983752 8983752 single base substitution G A downstream_gene_variant SKCA-BR 16 8986463 8986468 deletion of <=200bp TAAAAA - 3_prime_UTR_variant SKCA-BR 16 8986463 8986468 deletion of <=200bp TAAAAA - downstream_gene_variant SKCA-BR 16 8991369 8991369 single base substitution G A downstream_gene_variant SKCA-BR 16 8991369 8991369 single base substitution G A intron_variant SKCA-BR 16 8991369 8991369 single base substitution G A upstream_gene_variant SKCA-BR 16 8991556 8991556 single base substitution A C downstream_gene_variant SKCA-BR 16 8991556 8991556 single base substitution A C intron_variant SKCA-BR 16 8991556 8991556 single base substitution A C upstream_gene_variant SKCA-BR 16 9001173 9001173 single base substitution C T intron_variant SKCA-BR 16 9001173 9001173 single base substitution C T upstream_gene_variant SKCA-BR 16 9003760 9003760 single base substitution G A intron_variant SKCA-BR 16 9006306 9006306 insertion of <=200bp - CA intron_variant SKCA-BR 16 9006476 9006476 single base substitution G A intron_variant SKCA-BR 16 9008037 9008037 single base substitution A G intron_variant SKCA-BR 16 9009804 9009804 single base substitution C A downstream_gene_variant SKCA-BR 16 9009804 9009804 single base substitution C A intron_variant SKCA-BR 16 9009819 9009819 single base substitution A C downstream_gene_variant SKCA-BR 16 9009819 9009819 single base substitution A C intron_variant SKCA-BR 16 9010258 9010258 single base substitution G A downstream_gene_variant SKCA-BR 16 9010258 9010258 single base substitution G A intron_variant SKCA-BR 16 9010826 9010826 insertion of <=200bp - TAA downstream_gene_variant SKCA-BR 16 9010826 9010826 insertion of <=200bp - TAA intron_variant SKCA-BR 16 9011887 9011887 single base substitution T C downstream_gene_variant SKCA-BR 16 9011887 9011887 single base substitution T C intron_variant SKCA-BR 16 9015258 9015258 single base substitution T C downstream_gene_variant SKCA-BR 16 9015258 9015258 single base substitution T C intron_variant SKCA-BR 16 9022685 9022685 single base substitution G A intron_variant SKCA-BR 16 9022902 9022902 insertion of <=200bp - TA intron_variant SKCA-BR 16 9025070 9025070 single base substitution G A intron_variant SKCA-BR 16 9026631 9026631 single base substitution G A intron_variant SKCA-BR 16 9030196 9030196 single base substitution G C intron_variant SKCA-BR 16 9030196 9030196 single base substitution G C upstream_gene_variant SKCA-BR 16 9030993 9030993 single base substitution G C intron_variant SKCA-BR 16 9030993 9030993 single base substitution G C upstream_gene_variant SKCA-BR 16 9032196 9032196 insertion of <=200bp - CA intron_variant SKCA-BR 16 9032196 9032196 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 16 9035288 9035288 single base substitution A T intron_variant SKCA-BR 16 9035288 9035288 single base substitution A T upstream_gene_variant SKCA-BR 16 9035977 9035977 single base substitution G A intron_variant SKCA-BR 16 9038089 9038089 insertion of <=200bp - CA intron_variant SKCA-BR 16 9041862 9041862 single base substitution G A intron_variant SKCA-BR 16 9043008 9043008 single base substitution G T intron_variant SKCA-BR 16 9043009 9043009 single base substitution G A intron_variant SKCA-BR 16 9046494 9046494 single base substitution G A intron_variant SKCA-BR 16 9046494 9046494 single base substitution G A upstream_gene_variant SKCA-BR 16 9046581 9046581 single base substitution C A intron_variant SKCA-BR 16 9046581 9046581 single base substitution C A upstream_gene_variant SKCA-BR 16 9047195 9047195 single base substitution A C intron_variant SKCA-BR 16 9047195 9047195 single base substitution A C upstream_gene_variant SKCA-BR 16 9047372 9047411 deletion of <=200bp TGCCACTGGAAGCAGAGGGAAGACACGTGCCCCATGCGGC - intron_variant SKCA-BR 16 9047372 9047411 deletion of <=200bp TGCCACTGGAAGCAGAGGGAAGACACGTGCCCCATGCGGC - upstream_gene_variant SKCA-BR 16 9047378 9047378 single base substitution T C intron_variant SKCA-BR 16 9047378 9047378 single base substitution T C upstream_gene_variant SKCA-BR 16 9047444 9047444 single base substitution A G intron_variant SKCA-BR 16 9047444 9047444 single base substitution A G upstream_gene_variant SKCA-BR 16 9047483 9047483 single base substitution G A intron_variant SKCA-BR 16 9047483 9047483 single base substitution G A upstream_gene_variant SKCA-BR 16 9047787 9047787 single base substitution C G intron_variant SKCA-BR 16 9047787 9047787 single base substitution C G upstream_gene_variant SKCA-BR 16 9049225 9049225 single base substitution C T intron_variant SKCA-BR 16 9051742 9051742 single base substitution G A intron_variant SKCA-BR 16 9051742 9051742 single base substitution G A upstream_gene_variant SKCA-BR 16 9055801 9055801 single base substitution G A intron_variant SKCA-BR 16 9055819 9055819 single base substitution T C intron_variant SKCA-BR 16 9056664 9056664 single base substitution C G intron_variant SKCA-BR 16 9056664 9056664 single base substitution C G upstream_gene_variant SKCA-BR 16 9056680 9056680 single base substitution T C intron_variant SKCA-BR 16 9056680 9056680 single base substitution T C upstream_gene_variant SKCA-BR 16 9059191 9059191 single base substitution T G upstream_gene_variant SKCA-BR 16 9060553 9060553 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 16 9061534 9061534 single base substitution C T upstream_gene_variant SKCA-BR 16 9061805 9061805 single base substitution C T upstream_gene_variant SKCA-BR 16 9062353 9062353 single base substitution C T upstream_gene_variant SKCM-US 16 8987935 8987935 single base substitution G A 3_prime_UTR_variant SKCM-US 16 8987935 8987935 single base substitution G A downstream_gene_variant SKCM-US 16 8987935 8987935 single base substitution G A synonymous_variant L1061L 3181C>T SKCM-US 16 8987935 8987935 single base substitution G A synonymous_variant L1077L 3229C>T SKCM-US 16 8987935 8987935 single base substitution G A synonymous_variant L978L 2932C>T SKCM-US 16 8988680 8988680 single base substitution G A 3_prime_UTR_variant SKCM-US 16 8988680 8988680 single base substitution G A downstream_gene_variant SKCM-US 16 8988680 8988680 single base substitution G A synonymous_variant I1008I 3024C>T SKCM-US 16 8988680 8988680 single base substitution G A synonymous_variant I1024I 3072C>T SKCM-US 16 8988680 8988680 single base substitution G A synonymous_variant I925I 2775C>T SKCM-US 16 8988992 8988992 single base substitution G A 3_prime_UTR_variant SKCM-US 16 8988992 8988992 single base substitution G A downstream_gene_variant SKCM-US 16 8988992 8988992 single base substitution G A exon_variant SKCM-US 16 8988992 8988992 single base substitution G A stop_gained Q880* 2638C>T SKCM-US 16 8988992 8988992 single base substitution G A stop_gained Q963* 2887C>T SKCM-US 16 8988992 8988992 single base substitution G A stop_gained Q979* 2935C>T SKCM-US 16 8990881 8990881 single base substitution C A 3_prime_UTR_variant SKCM-US 16 8990881 8990881 single base substitution C A downstream_gene_variant SKCM-US 16 8990881 8990881 single base substitution C A exon_variant SKCM-US 16 8990881 8990881 single base substitution C A missense_variant G833W 2497G>T SKCM-US 16 8990881 8990881 single base substitution C A missense_variant G916W 2746G>T SKCM-US 16 8990881 8990881 single base substitution C A missense_variant G932W 2794G>T SKCM-US 16 8994415 8994415 single base substitution T A 3_prime_UTR_variant SKCM-US 16 8994415 8994415 single base substitution T A downstream_gene_variant SKCM-US 16 8994415 8994415 single base substitution T A exon_variant SKCM-US 16 8994415 8994415 single base substitution T A intron_variant SKCM-US 16 8994415 8994415 single base substitution T A missense_variant M662L 1984A>T SKCM-US 16 8994415 8994415 single base substitution T A missense_variant M745L 2233A>T SKCM-US 16 8994415 8994415 single base substitution T A missense_variant M761L 2281A>T SKCM-US 16 8994415 8994415 single base substitution T A upstream_gene_variant SKCM-US 16 8995939 8995939 single base substitution G A downstream_gene_variant SKCM-US 16 8995939 8995939 single base substitution G A exon_variant SKCM-US 16 8995939 8995939 single base substitution G A missense_variant H584Y 1750C>T SKCM-US 16 8995939 8995939 single base substitution G A missense_variant H667Y 1999C>T SKCM-US 16 8995939 8995939 single base substitution G A missense_variant H683Y 2047C>T SKCM-US 16 8995939 8995939 single base substitution G A splice_region_variant SKCM-US 16 8995939 8995939 single base substitution G A upstream_gene_variant SKCM-US 16 8995974 8995974 single base substitution G A 3_prime_UTR_variant SKCM-US 16 8995974 8995974 single base substitution G A downstream_gene_variant SKCM-US 16 8995974 8995974 single base substitution G A exon_variant SKCM-US 16 8995974 8995974 single base substitution G A missense_variant A572V 1715C>T SKCM-US 16 8995974 8995974 single base substitution G A missense_variant A655V 1964C>T SKCM-US 16 8995974 8995974 single base substitution G A missense_variant A671V 2012C>T SKCM-US 16 8995974 8995974 single base substitution G A upstream_gene_variant SKCM-US 16 8996003 8996003 single base substitution G A 3_prime_UTR_variant SKCM-US 16 8996003 8996003 single base substitution G A exon_variant SKCM-US 16 8996003 8996003 single base substitution G A synonymous_variant F562F 1686C>T SKCM-US 16 8996003 8996003 single base substitution G A synonymous_variant F645F 1935C>T SKCM-US 16 8996003 8996003 single base substitution G A synonymous_variant F661F 1983C>T SKCM-US 16 8996003 8996003 single base substitution G A upstream_gene_variant SKCM-US 16 8996035 8996035 single base substitution G A 3_prime_UTR_variant SKCM-US 16 8996035 8996035 single base substitution G A exon_variant SKCM-US 16 8996035 8996035 single base substitution G A missense_variant L552F 1654C>T SKCM-US 16 8996035 8996035 single base substitution G A missense_variant L635F 1903C>T SKCM-US 16 8996035 8996035 single base substitution G A missense_variant L651F 1951C>T SKCM-US 16 8996035 8996035 single base substitution G A upstream_gene_variant SKCM-US 16 8996278 8996278 single base substitution C T 3_prime_UTR_variant SKCM-US 16 8996278 8996278 single base substitution C T exon_variant SKCM-US 16 8996278 8996278 single base substitution C T missense_variant R535Q 1604G>A SKCM-US 16 8996278 8996278 single base substitution C T missense_variant R618Q 1853G>A SKCM-US 16 8996278 8996278 single base substitution C T missense_variant R634Q 1901G>A SKCM-US 16 8996278 8996278 single base substitution C T upstream_gene_variant SKCM-US 16 8996279 8996279 single base substitution G A 3_prime_UTR_variant SKCM-US 16 8996279 8996279 single base substitution G A exon_variant SKCM-US 16 8996279 8996279 single base substitution G A stop_gained R535* 1603C>T SKCM-US 16 8996279 8996279 single base substitution G A stop_gained R618* 1852C>T SKCM-US 16 8996279 8996279 single base substitution G A stop_gained R634* 1900C>T SKCM-US 16 8996279 8996279 single base substitution G A upstream_gene_variant SKCM-US 16 9000287 9000287 single base substitution C G 3_prime_UTR_variant SKCM-US 16 9000287 9000287 single base substitution C G exon_variant SKCM-US 16 9000287 9000287 single base substitution C G missense_variant G376A 1127G>C SKCM-US 16 9000287 9000287 single base substitution C G missense_variant G459A 1376G>C SKCM-US 16 9000287 9000287 single base substitution C G missense_variant G475A 1424G>C SKCM-US 16 9000287 9000287 single base substitution C G upstream_gene_variant SKCM-US 16 9000299 9000299 single base substitution G A 3_prime_UTR_variant SKCM-US 16 9000299 9000299 single base substitution G A exon_variant SKCM-US 16 9000299 9000299 single base substitution G A missense_variant P372L 1115C>T SKCM-US 16 9000299 9000299 single base substitution G A missense_variant P455L 1364C>T SKCM-US 16 9000299 9000299 single base substitution G A missense_variant P471L 1412C>T SKCM-US 16 9000299 9000299 single base substitution G A upstream_gene_variant SKCM-US 16 9009193 9009193 single base substitution G A 3_prime_UTR_variant SKCM-US 16 9009193 9009193 single base substitution G A exon_variant SKCM-US 16 9009193 9009193 single base substitution G A synonymous_variant I233I 699C>T SKCM-US 16 9009193 9009193 single base substitution G A synonymous_variant I316I 948C>T SKCM-US 16 9009193 9009193 single base substitution G A synonymous_variant I332I 996C>T SKCM-US 16 9010979 9010979 single base substitution G A 3_prime_UTR_variant SKCM-US 16 9010979 9010979 single base substitution G A downstream_gene_variant SKCM-US 16 9010979 9010979 single base substitution G A exon_variant SKCM-US 16 9010979 9010979 single base substitution G A missense_variant S153L 458C>T SKCM-US 16 9010979 9010979 single base substitution G A missense_variant S236L 707C>T SKCM-US 16 9010979 9010979 single base substitution G A missense_variant S252L 755C>T SKCM-US 16 9014253 9014253 single base substitution C T 3_prime_UTR_variant SKCM-US 16 9014253 9014253 single base substitution C T downstream_gene_variant SKCM-US 16 9014253 9014253 single base substitution C T exon_variant SKCM-US 16 9014253 9014253 single base substitution C T missense_variant E176K 526G>A SKCM-US 16 9014253 9014253 single base substitution C T missense_variant E192K 574G>A SKCM-US 16 9014253 9014253 single base substitution C T missense_variant E93K 277G>A STAD-US 16 8987861 8987861 single base substitution A G 3_prime_UTR_variant STAD-US 16 8987861 8987861 single base substitution A G downstream_gene_variant STAD-US 16 8987861 8987861 single base substitution A G synonymous_variant H1002H 3006T>C STAD-US 16 8987861 8987861 single base substitution A G synonymous_variant H1085H 3255T>C STAD-US 16 8987861 8987861 single base substitution A G synonymous_variant H1101H 3303T>C STAD-US 16 8987926 8987926 single base substitution C T 3_prime_UTR_variant STAD-US 16 8987926 8987926 single base substitution C T downstream_gene_variant STAD-US 16 8987926 8987926 single base substitution C T missense_variant D1064N 3190G>A STAD-US 16 8987926 8987926 single base substitution C T missense_variant D1080N 3238G>A STAD-US 16 8987926 8987926 single base substitution C T missense_variant D981N 2941G>A STAD-US 16 8987952 8987952 single base substitution G A 3_prime_UTR_variant STAD-US 16 8987952 8987952 single base substitution G A downstream_gene_variant STAD-US 16 8987952 8987952 single base substitution G A missense_variant S1055F 3164C>T STAD-US 16 8987952 8987952 single base substitution G A missense_variant S1071F 3212C>T STAD-US 16 8987952 8987952 single base substitution G A missense_variant S972F 2915C>T STAD-US 16 8988445 8988445 single base substitution T G 3_prime_UTR_variant STAD-US 16 8988445 8988445 single base substitution T G downstream_gene_variant STAD-US 16 8988445 8988445 single base substitution T G missense_variant E1039A 3116A>C STAD-US 16 8988445 8988445 single base substitution T G missense_variant E1055A 3164A>C STAD-US 16 8988445 8988445 single base substitution T G missense_variant E956A 2867A>C STAD-US 16 8988640 8988640 single base substitution C T downstream_gene_variant STAD-US 16 8988640 8988640 single base substitution C T splice_donor_variant STAD-US 16 8988948 8988948 single base substitution C T 3_prime_UTR_variant STAD-US 16 8988948 8988948 single base substitution C T downstream_gene_variant STAD-US 16 8988948 8988948 single base substitution C T exon_variant STAD-US 16 8988948 8988948 single base substitution C T synonymous_variant A894A 2682G>A STAD-US 16 8988948 8988948 single base substitution C T synonymous_variant A977A 2931G>A STAD-US 16 8988948 8988948 single base substitution C T synonymous_variant A993A 2979G>A STAD-US 16 8988952 8988952 single base substitution A G 3_prime_UTR_variant STAD-US 16 8988952 8988952 single base substitution A G downstream_gene_variant STAD-US 16 8988952 8988952 single base substitution A G exon_variant STAD-US 16 8988952 8988952 single base substitution A G missense_variant V893A 2678T>C STAD-US 16 8988952 8988952 single base substitution A G missense_variant V976A 2927T>C STAD-US 16 8988952 8988952 single base substitution A G missense_variant V992A 2975T>C STAD-US 16 8988969 8988969 single base substitution A G 3_prime_UTR_variant STAD-US 16 8988969 8988969 single base substitution A G downstream_gene_variant STAD-US 16 8988969 8988969 single base substitution A G exon_variant STAD-US 16 8988969 8988969 single base substitution A G synonymous_variant N887N 2661T>C STAD-US 16 8988969 8988969 single base substitution A G synonymous_variant N970N 2910T>C STAD-US 16 8988969 8988969 single base substitution A G synonymous_variant N986N 2958T>C STAD-US 16 8993506 8993508 deletion of <=200bp ATC - 3_prime_UTR_variant STAD-US 16 8993506 8993508 deletion of <=200bp ATC - downstream_gene_variant STAD-US 16 8993506 8993508 deletion of <=200bp ATC - exon_variant STAD-US 16 8993506 8993508 deletion of <=200bp ATC - inframe_deletion D707 STAD-US 16 8993506 8993508 deletion of <=200bp ATC - inframe_deletion D790 STAD-US 16 8993506 8993508 deletion of <=200bp ATC - inframe_deletion D806 STAD-US 16 8993506 8993508 deletion of <=200bp ATC - upstream_gene_variant STAD-US 16 8994445 8994445 single base substitution C T 3_prime_UTR_variant STAD-US 16 8994445 8994445 single base substitution C T downstream_gene_variant STAD-US 16 8994445 8994445 single base substitution C T exon_variant STAD-US 16 8994445 8994445 single base substitution C T intron_variant STAD-US 16 8994445 8994445 single base substitution C T missense_variant V652M 1954G>A STAD-US 16 8994445 8994445 single base substitution C T missense_variant V735M 2203G>A STAD-US 16 8994445 8994445 single base substitution C T missense_variant V751M 2251G>A STAD-US 16 8994445 8994445 single base substitution C T upstream_gene_variant STAD-US 16 8995029 8995029 single base substitution G A 3_prime_UTR_variant STAD-US 16 8995029 8995029 single base substitution G A downstream_gene_variant STAD-US 16 8995029 8995029 single base substitution G A exon_variant STAD-US 16 8995029 8995029 single base substitution G A missense_variant H605Y 1813C>T STAD-US 16 8995029 8995029 single base substitution G A missense_variant H688Y 2062C>T STAD-US 16 8995029 8995029 single base substitution G A missense_variant H704Y 2110C>T STAD-US 16 8995029 8995029 single base substitution G A upstream_gene_variant STAD-US 16 8998312 8998312 single base substitution G A 3_prime_UTR_variant STAD-US 16 8998312 8998312 single base substitution G A exon_variant STAD-US 16 8998312 8998312 single base substitution G A missense_variant H463Y 1387C>T STAD-US 16 8998312 8998312 single base substitution G A missense_variant H546Y 1636C>T STAD-US 16 8998312 8998312 single base substitution G A missense_variant H562Y 1684C>T STAD-US 16 8998312 8998312 single base substitution G A upstream_gene_variant STAD-US 16 8998333 8998333 single base substitution G A 3_prime_UTR_variant STAD-US 16 8998333 8998333 single base substitution G A exon_variant STAD-US 16 8998333 8998333 single base substitution G A missense_variant R456W 1366C>T STAD-US 16 8998333 8998333 single base substitution G A missense_variant R539W 1615C>T STAD-US 16 8998333 8998333 single base substitution G A missense_variant R555W 1663C>T STAD-US 16 8998333 8998333 single base substitution G A upstream_gene_variant STAD-US 16 8999108 8999108 single base substitution G A 3_prime_UTR_variant STAD-US 16 8999108 8999108 single base substitution G A exon_variant STAD-US 16 8999108 8999108 single base substitution G A synonymous_variant D404D 1212C>T STAD-US 16 8999108 8999108 single base substitution G A synonymous_variant D487D 1461C>T STAD-US 16 8999108 8999108 single base substitution G A synonymous_variant D503D 1509C>T STAD-US 16 8999108 8999108 single base substitution G A upstream_gene_variant STAD-US 16 9000392 9000392 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 16 9000392 9000392 deletion of <=200bp G - exon_variant STAD-US 16 9000392 9000392 deletion of <=200bp G - frameshift_variant T341 STAD-US 16 9000392 9000392 deletion of <=200bp G - frameshift_variant T424 STAD-US 16 9000392 9000392 deletion of <=200bp G - frameshift_variant T440 STAD-US 16 9000392 9000392 deletion of <=200bp G - upstream_gene_variant STAD-US 16 9000393 9000393 insertion of <=200bp - T 3_prime_UTR_variant STAD-US 16 9000393 9000393 insertion of <=200bp - T exon_variant STAD-US 16 9000393 9000393 insertion of <=200bp - T frameshift_variant T341N? STAD-US 16 9000393 9000393 insertion of <=200bp - T frameshift_variant T424N? STAD-US 16 9000393 9000393 insertion of <=200bp - T frameshift_variant T440N? STAD-US 16 9000393 9000393 insertion of <=200bp - T upstream_gene_variant STAD-US 16 9000408 9000408 single base substitution C A 3_prime_UTR_variant STAD-US 16 9000408 9000408 single base substitution C A exon_variant STAD-US 16 9000408 9000408 single base substitution C A stop_gained E336* 1006G>T STAD-US 16 9000408 9000408 single base substitution C A stop_gained E419* 1255G>T STAD-US 16 9000408 9000408 single base substitution C A stop_gained E435* 1303G>T STAD-US 16 9000408 9000408 single base substitution C A upstream_gene_variant STAD-US 16 9009114 9009114 single base substitution T A 3_prime_UTR_variant STAD-US 16 9009114 9009114 single base substitution T A exon_variant STAD-US 16 9009114 9009114 single base substitution T A missense_variant N260Y 778A>T STAD-US 16 9009114 9009114 single base substitution T A missense_variant N343Y 1027A>T STAD-US 16 9009114 9009114 single base substitution T A missense_variant N359Y 1075A>T STAD-US 16 9009127 9009127 single base substitution G C 3_prime_UTR_variant STAD-US 16 9009127 9009127 single base substitution G C exon_variant STAD-US 16 9009127 9009127 single base substitution G C missense_variant I255M 765C>G STAD-US 16 9009127 9009127 single base substitution G C missense_variant I338M 1014C>G STAD-US 16 9009127 9009127 single base substitution G C missense_variant I354M 1062C>G STAD-US 16 9010901 9010901 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 16 9010901 9010901 deletion of <=200bp T - downstream_gene_variant STAD-US 16 9010901 9010901 deletion of <=200bp T - exon_variant STAD-US 16 9010901 9010901 deletion of <=200bp T - frameshift_variant K179 STAD-US 16 9010901 9010901 deletion of <=200bp T - frameshift_variant K262 STAD-US 16 9010901 9010901 deletion of <=200bp T - frameshift_variant K278 STAD-US 16 9014266 9014266 single base substitution G A 3_prime_UTR_variant STAD-US 16 9014266 9014266 single base substitution G A downstream_gene_variant STAD-US 16 9014266 9014266 single base substitution G A exon_variant STAD-US 16 9014266 9014266 single base substitution G A synonymous_variant D129D 387C>T STAD-US 16 9014266 9014266 single base substitution G A synonymous_variant D171D 513C>T STAD-US 16 9014266 9014266 single base substitution G A synonymous_variant D187D 561C>T STAD-US 16 9014266 9014266 single base substitution G A synonymous_variant D88D 264C>T STAD-US 16 9017104 9017104 single base substitution G T 3_prime_UTR_variant STAD-US 16 9017104 9017104 single base substitution G T downstream_gene_variant STAD-US 16 9017104 9017104 single base substitution G T exon_variant STAD-US 16 9017104 9017104 single base substitution G T intron_variant STAD-US 16 9017104 9017104 single base substitution G T missense_variant F101L 303C>A STAD-US 16 9017104 9017104 single base substitution G T missense_variant F103L 309C>A STAD-US 16 9017104 9017104 single base substitution G T missense_variant F117L 351C>A STAD-US 16 9017104 9017104 single base substitution G T missense_variant F18L 54C>A STAD-US 16 9017104 9017104 single base substitution G T missense_variant F59L 177C>A STAD-US 16 9017167 9017167 single base substitution T C 3_prime_UTR_variant STAD-US 16 9017167 9017167 single base substitution T C 5_prime_UTR_variant STAD-US 16 9017167 9017167 single base substitution T C exon_variant STAD-US 16 9017167 9017167 single base substitution T C intron_variant STAD-US 16 9017167 9017167 single base substitution T C synonymous_variant P38P 114A>G STAD-US 16 9017167 9017167 single base substitution T C synonymous_variant P80P 240A>G STAD-US 16 9017167 9017167 single base substitution T C synonymous_variant P82P 246A>G STAD-US 16 9017167 9017167 single base substitution T C synonymous_variant P96P 288A>G UCEC-US 16 8987959 8987959 single base substitution T C downstream_gene_variant UCEC-US 16 8987959 8987959 single base substitution T C missense_variant N1053D 3157A>G UCEC-US 16 8987959 8987959 single base substitution T C missense_variant N1069D 3205A>G UCEC-US 16 8987959 8987959 single base substitution T C missense_variant N970D 2908A>G UCEC-US 16 8987959 8987959 single base substitution T C splice_region_variant UCEC-US 16 8988460 8988460 single base substitution T C 3_prime_UTR_variant UCEC-US 16 8988460 8988460 single base substitution T C downstream_gene_variant UCEC-US 16 8988460 8988460 single base substitution T C missense_variant Y1034C 3101A>G UCEC-US 16 8988460 8988460 single base substitution T C missense_variant Y1050C 3149A>G UCEC-US 16 8988460 8988460 single base substitution T C missense_variant Y951C 2852A>G UCEC-US 16 8988927 8988927 single base substitution G A 3_prime_UTR_variant UCEC-US 16 8988927 8988927 single base substitution G A downstream_gene_variant UCEC-US 16 8988927 8988927 single base substitution G A exon_variant UCEC-US 16 8988927 8988927 single base substitution G A synonymous_variant F1000F 3000C>T UCEC-US 16 8988927 8988927 single base substitution G A synonymous_variant F901F 2703C>T UCEC-US 16 8988927 8988927 single base substitution G A synonymous_variant F984F 2952C>T UCEC-US 16 8989514 8989514 single base substitution C T 3_prime_UTR_variant UCEC-US 16 8989514 8989514 single base substitution C T downstream_gene_variant UCEC-US 16 8989514 8989514 single base substitution C T exon_variant UCEC-US 16 8989514 8989514 single base substitution C T synonymous_variant R869R 2607G>A UCEC-US 16 8989514 8989514 single base substitution C T synonymous_variant R952R 2856G>A UCEC-US 16 8989514 8989514 single base substitution C T synonymous_variant R968R 2904G>A UCEC-US 16 8993544 8993544 single base substitution C T 3_prime_UTR_variant UCEC-US 16 8993544 8993544 single base substitution C T downstream_gene_variant UCEC-US 16 8993544 8993544 single base substitution C T exon_variant UCEC-US 16 8993544 8993544 single base substitution C T missense_variant V695I 2083G>A UCEC-US 16 8993544 8993544 single base substitution C T missense_variant V778I 2332G>A UCEC-US 16 8993544 8993544 single base substitution C T missense_variant V794I 2380G>A UCEC-US 16 8993544 8993544 single base substitution C T upstream_gene_variant UCEC-US 16 8993562 8993562 single base substitution G A 3_prime_UTR_variant UCEC-US 16 8993562 8993562 single base substitution G A downstream_gene_variant UCEC-US 16 8993562 8993562 single base substitution G A exon_variant UCEC-US 16 8993562 8993562 single base substitution G A stop_gained R689* 2065C>T UCEC-US 16 8993562 8993562 single base substitution G A stop_gained R772* 2314C>T UCEC-US 16 8993562 8993562 single base substitution G A stop_gained R788* 2362C>T UCEC-US 16 8993562 8993562 single base substitution G A upstream_gene_variant UCEC-US 16 8994476 8994476 single base substitution C T 3_prime_UTR_variant UCEC-US 16 8994476 8994476 single base substitution C T downstream_gene_variant UCEC-US 16 8994476 8994476 single base substitution C T exon_variant UCEC-US 16 8994476 8994476 single base substitution C T intron_variant UCEC-US 16 8994476 8994476 single base substitution C T synonymous_variant P641P 1923G>A UCEC-US 16 8994476 8994476 single base substitution C T synonymous_variant P724P 2172G>A UCEC-US 16 8994476 8994476 single base substitution C T synonymous_variant P740P 2220G>A UCEC-US 16 8994476 8994476 single base substitution C T upstream_gene_variant UCEC-US 16 8995051 8995051 single base substitution C T 3_prime_UTR_variant UCEC-US 16 8995051 8995051 single base substitution C T downstream_gene_variant UCEC-US 16 8995051 8995051 single base substitution C T exon_variant UCEC-US 16 8995051 8995051 single base substitution C T synonymous_variant T597T 1791G>A UCEC-US 16 8995051 8995051 single base substitution C T synonymous_variant T680T 2040G>A UCEC-US 16 8995051 8995051 single base substitution C T synonymous_variant T696T 2088G>A UCEC-US 16 8995051 8995051 single base substitution C T upstream_gene_variant UCEC-US 16 8996253 8996253 single base substitution G A 3_prime_UTR_variant UCEC-US 16 8996253 8996253 single base substitution G A exon_variant UCEC-US 16 8996253 8996253 single base substitution G A synonymous_variant A543A 1629C>T UCEC-US 16 8996253 8996253 single base substitution G A synonymous_variant A626A 1878C>T UCEC-US 16 8996253 8996253 single base substitution G A synonymous_variant A642A 1926C>T UCEC-US 16 8996253 8996253 single base substitution G A upstream_gene_variant UCEC-US 16 8996318 8996318 single base substitution G T 3_prime_UTR_variant UCEC-US 16 8996318 8996318 single base substitution G T exon_variant UCEC-US 16 8996318 8996318 single base substitution G T synonymous_variant R522R 1564C>A UCEC-US 16 8996318 8996318 single base substitution G T synonymous_variant R605R 1813C>A UCEC-US 16 8996318 8996318 single base substitution G T synonymous_variant R621R 1861C>A UCEC-US 16 8996318 8996318 single base substitution G T upstream_gene_variant UCEC-US 16 8999107 8999107 single base substitution C T 3_prime_UTR_variant UCEC-US 16 8999107 8999107 single base substitution C T exon_variant UCEC-US 16 8999107 8999107 single base substitution C T missense_variant D405N 1213G>A UCEC-US 16 8999107 8999107 single base substitution C T missense_variant D488N 1462G>A UCEC-US 16 8999107 8999107 single base substitution C T missense_variant D504N 1510G>A UCEC-US 16 8999107 8999107 single base substitution C T upstream_gene_variant UCEC-US 16 9014216 9014216 single base substitution G A downstream_gene_variant UCEC-US 16 9014216 9014216 single base substitution G A missense_variant A105V 314C>T UCEC-US 16 9014216 9014216 single base substitution G A missense_variant A188V 563C>T UCEC-US 16 9014216 9014216 single base substitution G A missense_variant A204V 611C>T UCEC-US 16 9014216 9014216 single base substitution G A splice_region_variant UCEC-US 16 9017170 9017170 single base substitution C T 3_prime_UTR_variant UCEC-US 16 9017170 9017170 single base substitution C T 5_prime_UTR_variant UCEC-US 16 9017170 9017170 single base substitution C T exon_variant UCEC-US 16 9017170 9017170 single base substitution C T intron_variant UCEC-US 16 9017170 9017170 single base substitution C T synonymous_variant L37L 111G>A UCEC-US 16 9017170 9017170 single base substitution C T synonymous_variant L79L 237G>A UCEC-US 16 9017170 9017170 single base substitution C T synonymous_variant L81L 243G>A UCEC-US 16 9017170 9017170 single base substitution C T synonymous_variant L95L 285G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BCB109T COSM4798780 c.2785G>T p.V929L Substitution - Missense 16:8897033-8897033 - 4989_CLM COSM5754962 c.851G>A p.G284E Substitution - Missense 16:8917026-8917026 - CSCC-55-T COSM4477423 c.2151C>T p.L717L Substitution - coding silent 16:8901047-8901047 - pfg416T COSM4749645 c.1220T>G p.M407R Substitution - Missense 16:8908392-8908392 - TCGA-BR-7716-01 COSM4063712 c.1062C>G p.I354M Substitution - Missense 16:8915270-8915270 - QC2-35-T2 COSM4739949 c.976G>A p.G326S Substitution - Missense 16:8915456-8915456 - DN11190 COSM5789109 c.1170G>A p.E390E Substitution - coding silent 16:8908442-8908442 - TCGA-BG-A0MT-01 COSM975014 c.1510G>A p.D504N Substitution - Missense 16:8905250-8905250 - TCGA-EP-A2KA-01 COSM4917146 c.454C>A p.R152S Substitution - Missense 16:8921225-8921225 - HCT8 COSM2923793 c.1879G>T p.A627S Substitution - Missense 16:8902443-8902443 - TCGA-F1-6874-01 COSM4063689 c.1509C>T p.D503D Substitution - coding silent 16:8905251-8905251 - J30_T COSM3957938 c.2090G>C p.R697P Substitution - Missense 16:8901192-8901192 - TCGA-EB-A44Q-06 COSM3513367 c.1900C>T p.R634* Substitution - Nonsense 16:8902422-8902422 - CSCC-27-T COSM4485367 c.2925C>T p.I975I Substitution - coding silent 16:8895145-8895145 - TCGA-23-1124-01 COSM76977 c.80C>G p.A27G Substitution - Missense 16:8930397-8930397 - T578 COSM180164 c.1597G>A p.D533N Substitution - Missense 16:8904542-8904542 - SS6003117 COSM559615 c.1018C>T p.R340W Substitution - Missense 16:8915314-8915314 - 26 COSM5012971 c.1351C>T p.H451Y Substitution - Missense 16:8906503-8906503 - EGC3 COSM5055193 c.3005C>T p.T1002M Substitution - Missense 16:8895065-8895065 - KM12 COSM1678827 c.1478C>T p.A493V Substitution - Missense 16:8905282-8905282 - TCGA-AX-A0IS-01 COSM975051 c.285G>A p.L95L Substitution - coding silent 16:8923313-8923313 - TCGA-AM-5820-01 COSM3691280 c.1881A>G p.A627A Substitution - coding silent 16:8902441-8902441 - TCGA-61-1725-01 COSM1324208 c.1501C>T p.H501Y Substitution - Missense 16:8905259-8905259 - TCGA-EE-A2GJ-06 COSM3513364 c.1983C>T p.F661F Substitution - coding silent 16:8902146-8902146 - ESO-859 COSM1240623 c.2718+2T>C p.? Unknown 16:8898358-8898358 - TCGA-RP-A693-06 COSM4895049 c.574G>A p.E192K Substitution - Missense 16:8920396-8920396 - TCGA-61-1899-01 COSM1324207 c.458G>C p.R153P Substitution - Missense 16:8921221-8921221 - TCGA-AC-A23H-01 COSM3818755 c.1223G>A p.R408K Substitution - Missense 16:8908389-8908389 - TCGA-BR-7716-01 COSM4063724 c.351C>A p.F117L Substitution - Missense 16:8923247-8923247 - TCGA-EI-7004-01 COSM3421246 c.3300C>G p.I1100M Substitution - Missense 16:8894007-8894007 - T272 COSM4739949 c.976G>A p.G326S Substitution - Missense 16:8915456-8915456 - SC_9010 COSM5552272 c.1446C>T p.D482D Substitution - coding silent 16:8905314-8905314 - BN23T COSM1609804 c.760A>G p.K254E Substitution - Missense 16:8917117-8917117 - TCGA-A8-A085-01 COSM435952 c.2941G>C p.D981H Substitution - Missense 16:8895129-8895129 - AOCS-166-1-2 COSM4141961 c.2089C>T p.R697W Substitution - Missense 16:8901193-8901193 - TCGA-D3-A3C8-06 COSM3513352 c.2935C>T p.Q979* Substitution - Nonsense 16:8895135-8895135 - TCGA-AX-A0J0-01 COSM974969 c.3149A>G p.Y1050C Substitution - Missense 16:8894603-8894603 - TCGA-BR-7716-01 COSM4063660 c.3212C>T p.S1071F Substitution - Missense 16:8894095-8894095 - TCGA-B8-4153-01 COSM472235 c.1959T>C p.D653D Substitution - coding silent 16:8902170-8902170 - Pat_26_A COSM5851735 c.1156T>G p.L386V Substitution - Missense 16:8910750-8910750 - OLID09 COSM132782 c.824G>A p.G275E Substitution - Missense 16:8917053-8917053 - TCGA-AP-A051-01 COSM974998 c.1926C>T p.A642A Substitution - coding silent 16:8902396-8902396 - TCGA-AD-6889-01 COSM1380628 c.748delG p.D250fs*9 Deletion - Frameshift 16:8917129-8917129 - YUKSI COSM5385577 c.2890C>T p.P964S Substitution - Missense 16:8895671-8895671 - CSCC-32-T COSM4486135 c.3016C>T p.P1006S Substitution - Missense 16:8895054-8895054 - TCGA-EK-A2RJ-01 COSM4831703 c.1174G>A p.G392S Substitution - Missense 16:8908438-8908438 - TCGA-BR-4294-01 COSM4063711 c.1075A>T p.N359Y Substitution - Missense 16:8915257-8915257 - CSCC-20-T COSM4537495 c.2428G>A p.V810M Substitution - Missense 16:8899639-8899639 - PTC-77C COSM4129551 c.60C>T p.P20P Substitution - coding silent 16:8963226-8963226 - PD18283a COSM3770473 c.396C>T p.C132C Substitution - coding silent 16:8921283-8921283 - TCGA-CG-4300-01 COSM4063725 c.288A>G p.P96P Substitution - coding silent 16:8923310-8923310 - 587260 COSM1232120 c.1639G>A p.E547K Substitution - Missense 16:8904500-8904500 - LUAD-B02594 COSM336495 c.341G>T p.S114I Substitution - Missense 16:8923257-8923257 - QC2-30-T2 COSM5653721 c.311G>T p.R104L Substitution - Missense 16:8923287-8923287 - TCGA-39-5036-01 COSM705252 c.700T>G p.F234V Substitution - Missense 16:8919051-8919051 - SJBALL263_D COSM4994279 c.2317C>T p.P773S Substitution - Missense 16:8899750-8899750 - TCGA-AA-3821-01 COSM294940 c.2979G>A p.A993A Substitution - coding silent 16:8895091-8895091 - TCGA-AG-A002-01 COSM264631 c.1338A>G p.A446A Substitution - coding silent 16:8906516-8906516 - TCGA-D3-A3ML-06 COSM3513380 c.1424G>C p.G475A Substitution - Missense 16:8906430-8906430 - 3N58-VS-3T58 COSM4984085 c.1357G>A p.V453I Substitution - Missense 16:8906497-8906497 - BICR_22 COSM2923871 c.1484A>T p.E495V Substitution - Missense 16:8905276-8905276 - TCGA-B5-A11J-01 COSM974965 c.3205A>G p.N1069D Substitution - Missense 16:8894102-8894102 - TCGA-34-2600-01 COSM286411 c.1927G>A p.D643N Substitution - Missense 16:8902395-8902395 - STC232 COSM5055198 c.716G>A p.R239Q Substitution - Missense 16:8919035-8919035 - TCGA-BS-A0UV-01 COSM974984 c.2362C>T p.R788* Substitution - Nonsense 16:8899705-8899705 - PCA78-2 COSM5415672 c.1207C>T p.H403Y Substitution - Missense 16:8908405-8908405 - TCGA-AO-A03M-01 COSM3818759 c.1036G>C p.D346H Substitution - Missense 16:8915296-8915296 - YUGURT COSM3513362 c.2047C>T p.H683Y Substitution - Missense 16:8902082-8902082 - QC2-34-T2 COSM5655047 c.1033_1037delGAAGA p.E345fs*3 Deletion - Frameshift 16:8915295-8915299 - CRC-11T COSM5460529 c.2718+1G>A p.? Unknown 16:8898359-8898359 - YUDAB COSM1685723 c.2291_2292insGTGA p.D764fs*2 Insertion - Frameshift 16:8900547-8900548 - TCGA-A7-A3IZ-01 COSM1380624 c.1861C>T p.R621* Substitution - Nonsense 16:8902461-8902461 - YUKAT COSM5385581 c.1654G>A p.A552T Substitution - Missense 16:8904485-8904485 - TCGA-CD-A4MI-01 COSM4063658 c.3303T>C p.H1101H Substitution - coding silent 16:8894004-8894004 - KM12 COSM1678827 c.1478C>T p.A493V Substitution - Missense 16:8905282-8905282 - TCGA-BR-4184-01 COSM4063670 c.2251G>A p.V751M Substitution - Missense 16:8900588-8900588 - TCGA-AG-A016-01 COSM290121 c.2607G>A p.K869K Substitution - coding silent 16:8898564-8898564 - TCGA-HU-8602-01 COSM4063723 c.561C>T p.D187D Substitution - coding silent 16:8920409-8920409 - CSCC-27-T COSM4516179 c.165_166GG>AA p.E56K Substitution - Missense 16:8930311-8930312 - TCGA-EK-A2PG-01 COSM4819912 c.2353G>A p.E785K Substitution - Missense 16:8899714-8899714 - HCC2998 COSM974991 c.2220G>A p.P740P Substitution - coding silent 16:8900619-8900619 - TCGA-AA-3510-01 COSM1380624 c.1861C>T p.R621* Substitution - Nonsense 16:8902461-8902461 - TCGA-76-6656-01 COSM180165 c.1589C>T p.A530V Substitution - Missense 16:8904550-8904550 - PD7307a COSM5789109 c.1170G>A p.E390E Substitution - coding silent 16:8908442-8908442 - TCGA-AA-3663-01 COSM1380631 c.81G>A p.A27A Substitution - coding silent 16:8930396-8930396 - TCGA-FS-A1ZZ-06 COSM3513366 c.1901G>A p.R634Q Substitution - Missense 16:8902421-8902421 - T3236 COSM4739947 c.2482C>T p.Q828* Substitution - Nonsense 16:8899170-8899170 - U2940 COSM5622128 c.2855T>G p.V952G Substitution - Missense 16:8895706-8895706 - T1154 COSM4141961 c.2089C>T p.R697W Substitution - Missense 16:8901193-8901193 - TCGA-21-1077-01 COSM705277 c.2655C>T p.I885I Substitution - coding silent 16:8898423-8898423 - TCGA-EE-A3AB-06 COSM3513389 c.996C>T p.I332I Substitution - coding silent 16:8915336-8915336 - ESCC_BICR_064T COSM5437096 c.1297C>T p.L433F Substitution - Missense 16:8906557-8906557 - SJHYPO013 COSM1380625 c.1141G>A p.A381T Substitution - Missense 16:8910765-8910765 - YUFIT COSM5385579 c.1735C>T p.Q579* Substitution - Nonsense 16:8903372-8903372 - TCGA-BR-8360-01 COSM4063664 c.2958T>C p.N986N Substitution - coding silent 16:8895112-8895112 - LUAD-S00488 COSM395037 c.341G>C p.S114T Substitution - Missense 16:8923257-8923257 - TCGA-36-2542-01 COSM1324209 c.2827G>C p.E943Q Substitution - Missense 16:8895734-8895734 - S01297 COSM5667484 c.83G>T p.G28V Substitution - Missense 16:8930394-8930394 - DN12042 COSM5963208 c.2711G>T p.R904M Substitution - Missense 16:8898367-8898367 - TCGA-CG-4305-01 COSM4063671 c.2110C>T p.H704Y Substitution - Missense 16:8901172-8901172 - TCGA-AZ-6598-01 COSM1380627 c.833delA p.K278fs*2 Deletion - Frameshift 16:8917044-8917044 - TCGA-EE-A2MI-06 COSM3513363 c.2012C>T p.A671V Substitution - Missense 16:8902117-8902117 - TCGA-FP-A4BE-01 COSM4063662 c.3111+1G>A p.? Unknown 16:8894783-8894783 - TCGA-FW-A3R5-06 COSM3889162 c.3229C>T p.L1077L Substitution - coding silent 16:8894078-8894078 - LUAD-F00282 COSM367146 c.2314G>A p.D772N Substitution - Missense 16:8899753-8899753 - TCGA-AA-A00N-01 COSM278053 c.1139A>G p.D380G Substitution - Missense 16:8910767-8910767 - CSCC-27-T COSM3889167 c.755C>T p.S252L Substitution - Missense 16:8917122-8917122 - TBR03 COSM4167780 c.1390C>T p.H464Y Substitution - Missense 16:8906464-8906464 - CR108 COSM4994685 c.162_165delCGCG p.A55fs*26 Deletion - Frameshift 16:8930312-8930315 - CRC-03T COSM5451416 c.1137C>T p.Y379Y Substitution - coding silent 16:8910769-8910769 - CHC1742T COSM4792276 c.241C>A p.L81M Substitution - Missense 16:8923357-8923357 - BD136T COSM5507558 c.2906C>T p.T969M Substitution - Missense 16:8895655-8895655 - PT36 COSM5916549 c.3017C>T p.P1006L Substitution - Missense 16:8895053-8895053 - TCGA-BP-5176-01 COSM472241 c.748G>A p.D250N Substitution - Missense 16:8917129-8917129 - 2211640 COSM4169191 c.2188A>T p.T730S Substitution - Missense 16:8901010-8901010 - 862-01-10TD COSM5416560 c.3198G>A p.Q1066Q Substitution - coding silent 16:8894554-8894554 - S01022 COSM5665791 c.2774G>T p.C925F Substitution - Missense 16:8897044-8897044 - PD4106a COSM165457 c.1802C>T p.S601L Substitution - Missense 16:8903305-8903305 - TCGA-66-2787-01 COSM705273 c.2416G>T p.D806Y Substitution - Missense 16:8899651-8899651 - TCGA-BR-8680-01 COSM4063698 c.1303G>T p.E435* Substitution - Nonsense 16:8906551-8906551 - 587222 COSM1232122 c.1088C>A p.S363* Substitution - Nonsense 16:8910818-8910818 - C086 COSM5541502 c.1263C>T p.I421I Substitution - coding silent 16:8908349-8908349 - UM-SCC-2 COSM2924083 c.333C>A p.H111Q Substitution - Missense 16:8923265-8923265 - TCGA-A5-A0VP-01 COSM974993 c.2088G>A p.T696T Substitution - coding silent 16:8901194-8901194 - TCGA-AP-A051-01 COSM180183 c.611C>T p.A204V Substitution - Missense 16:8920359-8920359 - DLD1 COSM2923793 c.1879G>T p.A627S Substitution - Missense 16:8902443-8902443 - TCGA-BM-6198-01 COSM2924084 c.311G>A p.R104H Substitution - Missense 16:8923287-8923287 - ESCC_165 COSM4831703 c.1174G>A p.G392S Substitution - Missense 16:8908438-8908438 - YUDON COSM5385578 c.2767G>A p.E923K Substitution - Missense 16:8897051-8897051 - WSU-HN6 COSM2924083 c.333C>A p.H111Q Substitution - Missense 16:8923265-8923265 - TCGA-BR-7707-01 COSM4063663 c.2975T>C p.V992A Substitution - Missense 16:8895095-8895095 - LIM2551 COSM2923708 c.3042C>T p.G1014G Substitution - coding silent 16:8894853-8894853 - YUMOBER COSM5385589 c.185-1G>A p.? Unknown 16:8923414-8923414 - HCT15 COSM2923793 c.1879G>T p.A627S Substitution - Missense 16:8902443-8902443 - sysucc-1163T COSM5458602 c.306G>A p.M102I Substitution - Missense 16:8923292-8923292 - LUAD-5V8LT COSM401617 c.2380G>T p.V794F Substitution - Missense 16:8899687-8899687 - YUCHUFA COSM1708734 c.2516T>C p.F839S Substitution - Missense 16:8899136-8899136 - TCGA-AZ-4315-01 COSM1380629 c.278G>A p.R93Q Substitution - Missense 16:8923320-8923320 - 587228 COSM1180834 c.185-5delT p.? Unknown 16:8923418-8923418 - TCGA-09-2049-01 COSM73236 c.569C>T p.T190I Substitution - Missense 16:8920401-8920401 - YUSMI COSM2923710 c.2985C>T p.F995F Substitution - coding silent 16:8895085-8895085 - 587394 COSM1232123 c.9C>G p.H3Q Substitution - Missense 16:8963277-8963277 - 8057783 COSM3387688 c.2754C>T p.V918V Substitution - coding silent 16:8897064-8897064 - TCGA-FV-A496-01 COSM4939077 c.1312C>T p.Q438* Substitution - Nonsense 16:8906542-8906542 - 1N31-VS-1T31 COSM4974294 c.2182C>T p.Q728* Substitution - Nonsense 16:8901016-8901016 - 385 COSM4426903 c.2370C>T p.L790L Substitution - coding silent 16:8899697-8899697 - AOCS-144-1-3 COSM4141960 c.2217A>G p.K739K Substitution - coding silent 16:8900622-8900622 - TCGA-DK-A3WW-01 COSM3795242 c.1782C>G p.F594L Substitution - Missense 16:8903325-8903325 - PD3854a COSM165456 c.1175G>T p.G392V Substitution - Missense 16:8908437-8908437 - TCGA-AX-A0J1-01 COSM974982 c.2380G>A p.V794I Substitution - Missense 16:8899687-8899687 - TCGA-CK-5916-01 COSM3691323 c.2543G>T p.G848V Substitution - Missense 16:8898628-8898628 - TCGA-EE-A29E-06 COSM3513362 c.2047C>T p.H683Y Substitution - Missense 16:8902082-8902082 - TCGA-AN-A046-01 COSM3818760 c.913G>A p.D305N Substitution - Missense 16:8915519-8915519 - TCGA-BR-8680-01 COSM4063661 c.3164A>C p.E1055A Substitution - Missense 16:8894588-8894588 - TCGA-CA-6718-01 COSM1380625 c.1141G>A p.A381T Substitution - Missense 16:8910765-8910765 - CSCC-41-T COSM4475592 c.2000C>T p.P667L Substitution - Missense 16:8902129-8902129 - U2940 COSM5622129 c.2831T>A p.I944N Substitution - Missense 16:8895730-8895730 - LUAD-F00134 COSM339953 c.1403A>T p.Y468F Substitution - Missense 16:8906451-8906451 - TCGA-DK-A1AC-01 COSM1302378 c.1006G>A p.E336K Substitution - Missense 16:8915326-8915326 - ESCC_BICR_003T COSM5442663 c.2561G>C p.R854T Substitution - Missense 16:8898610-8898610 - TCGA-F4-6856-01 COSM1380626 c.906G>T p.V302V Substitution - coding silent 16:8916502-8916502 - TCGA-B5-A0JY-01 COSM974991 c.2220G>A p.P740P Substitution - coding silent 16:8900619-8900619 - N089T COSM236262 c.1276G>T p.E426* Substitution - Nonsense 16:8906578-8906578 - tumor_4177856 COSM3356879 c.1839+5G>A p.? Unknown 16:8903263-8903263 - L363 COSM1236187 c.2239C>T p.Q747* Substitution - Nonsense 16:8900600-8900600 - TCGA-GF-A3OT-06 COSM2923768 c.2281A>T p.M761L Substitution - Missense 16:8900558-8900558 - C126 COSM4441400 c.358C>A p.Q120K Substitution - Missense 16:8923240-8923240 - LUAD-S01373 COSM388141 c.3088A>T p.I1030F Substitution - Missense 16:8894807-8894807 - TCGA-AX-A0J1-01 COSM974973 c.2904G>A p.R968R Substitution - coding silent 16:8895657-8895657 - TCGA-AA-3510-01 COSM236262 c.1276G>T p.E426* Substitution - Nonsense 16:8906578-8906578 - ME044T COSM229278 c.3139C>T p.R1047* Substitution - Nonsense 16:8894613-8894613 - SC_9107 COSM1380634 c.12G>C p.Q4H Substitution - Missense 16:8963274-8963274 - Patient_3 COSM5414395 c.383+8A>T p.? Unknown 16:8923207-8923207 - OSCC-GB_00340111 COSM3712191 c.1889A>G p.N630S Substitution - Missense 16:8902433-8902433 - SC_9099 COSM5550352 c.2021C>T p.A674V Substitution - Missense 16:8902108-8902108 - YUFIT COSM5385580 c.1734C>T p.H578H Substitution - coding silent 16:8903373-8903373 - T36 COSM4739948 c.1831C>T p.Q611* Substitution - Nonsense 16:8903276-8903276 - OSCC-GB_01030111 COSM4887574 c.820G>C p.V274L Substitution - Missense 16:8917057-8917057 - TCGA-AB-2867-03 COSM1318541 c.2532-2A>T p.? Unknown 16:8898641-8898641 - TCGA-D3-A51F-06 COSM3513365 c.1951C>T p.L651F Substitution - Missense 16:8902178-8902178 - HCT15 COSM2923870 c.1557C>T p.I519I Substitution - coding silent 16:8905203-8905203 - T3225 COSM2924059 c.715C>T p.R239* Substitution - Nonsense 16:8919036-8919036 - Pat_50_A COSM5851725 c.2920G>A p.E974K Substitution - Missense 16:8895150-8895150 - TCGA-GN-A266-06 COSM3513353 c.2794G>T p.G932W Substitution - Missense 16:8897024-8897024 - TCGA-D3-A2JH-06 COSM3513381 c.1412C>T p.P471L Substitution - Missense 16:8906442-8906442 - PA215 COSM1162728 c.2790G>A p.E930E Substitution - coding silent 16:8897028-8897028 - sysucc-1370T COSM5470609 c.1560G>T p.R520S Substitution - Missense 16:8905200-8905200 - TCGA-AG-A002-01 COSM264632 c.484G>T p.E162* Substitution - Nonsense 16:8921195-8921195 - T368 COSM4739950 c.516C>A p.A172A Substitution - coding silent 16:8921163-8921163 - RKO COSM2923826 c.1620G>T p.L540F Substitution - Missense 16:8904519-8904519 - SH-0622 COSM5018915 c.2780delA p.K927fs*16 Deletion - Frameshift 16:8897038-8897038 - QC2-05-T2 COSM5652007 c.2263_2274del12 p.K755_D758delKALD Deletion - In frame 16:8900565-8900576 - TCGA-AP-A056-01 COSM974991 c.2220G>A p.P740P Substitution - coding silent 16:8900619-8900619 - TCGA-CC-A7IH-01 COSM4924409 c.3045G>T p.E1015D Substitution - Missense 16:8894850-8894850 - TCGA-CA-6717-01 COSM1380621 c.2920G>T p.E974* Substitution - Nonsense 16:8895150-8895150 - SJHGG034_D COSM4970637 c.1250A>G p.Q417R Substitution - Missense 16:8908362-8908362 - TCGA-AP-A0LM-01 COSM974971 c.3000C>T p.F1000F Substitution - coding silent 16:8895070-8895070 - CHC1754T COSM5348785 c.30_31insCAG p.Q10_K11insQ Insertion - In frame 16:8963255-8963256 - BCB109T COSM4798780 c.2785G>T p.V929L Substitution - Missense 16:8897033-8897033 - S02375 COSM5696464 c.1767G>A p.V589V Substitution - coding silent 16:8903340-8903340 - TCGA-AD-6889-01 COSM3691282 c.15G>C p.Q5H Substitution - Missense 16:8963271-8963271 - ESCC-185T COSM3937220 c.3067C>T p.R1023* Substitution - Nonsense 16:8894828-8894828 - TCGA-61-2613-01 COSM1324210 c.2988C>T p.H996H Substitution - coding silent 16:8895082-8895082 - TCGA-B5-A11N-01 COSM975000 c.1861C>A p.R621R Substitution - coding silent 16:8902461-8902461 - CSCC-41-T COSM4484737 c.2847C>T p.I949I Substitution - coding silent 16:8895714-8895714 - PT49 COSM1380624 c.1861C>T p.R621* Substitution - Nonsense 16:8902461-8902461 - TCGA-24-1470-01 COSM76976 c.2801A>T p.K934I Substitution - Missense 16:8897017-8897017 - SC_9003 COSM294940 c.2979G>A p.A993A Substitution - coding silent 16:8895091-8895091 - ATL032 COSM5706275 c.1609C>G p.P537A Substitution - Missense 16:8904530-8904530 - 34T COSM3712191 c.1889A>G p.N630S Substitution - Missense 16:8902433-8902433 - TCGA-FW-A3R5-06 COSM3889167 c.755C>T p.S252L Substitution - Missense 16:8917122-8917122 - TCGA-61-1904-01 COSM1324211 c.3066G>T p.K1022N Substitution - Missense 16:8894829-8894829 - 587226 COSM1232121 c.1711G>A p.A571T Substitution - Missense 16:8903396-8903396 - Pat_41_B COSM5851730 c.1682C>T p.A561V Substitution - Missense 16:8904457-8904457 - 6P2-2 COSM3734530 c.336A>C p.Q112H Substitution - Missense 16:8923262-8923262 - TCGA-AA-3715-01 COSM270532 c.2347G>A p.A783T Substitution - Missense 16:8899720-8899720 - TCGA-D8-A1JN-01 COSM1479185 c.3011G>A p.G1004E Substitution - Missense 16:8895059-8895059 - TCGA-61-2613-01 COSM1324212 c.3164A>G p.E1055G Substitution - Missense 16:8894588-8894588 - cSCCP7 COSM143708 c.2930_2931TG>CT p.L977S Substitution - Missense 16:8895139-8895140 - TCGA-FJ-A3ZE-01 COSM3795249 c.611+1G>A p.? Unknown 16:8920358-8920358 - CHC1742T COSM4792276 c.241C>A p.L81M Substitution - Missense 16:8923357-8923357 - OSCC-GB_01000111 COSM180165 c.1589C>T p.A530V Substitution - Missense 16:8904550-8904550 - TCGA-G4-6588-01 COSM1380630 c.277C>T p.R93* Substitution - Nonsense 16:8923321-8923321 - BN23 COSM1609804 c.760A>G p.K254E Substitution - Missense 16:8917117-8917117 - TCGA-BR-6452-01 COSM294940 c.2979G>A p.A993A Substitution - coding silent 16:8895091-8895091 - TCGA-CD-A4MG-01 COSM4063680 c.1663C>T p.R555W Substitution - Missense 16:8904476-8904476 - pfg016T COSM1640578 c.1318delA p.T440fs*30 Deletion - Frameshift 16:8906536-8906536 - TCGA-18-4083-01 COSM705269 c.1931G>C p.G644A Substitution - Missense 16:8902391-8902391 - TCGA-BP-4164-01 COSM1135864 c.710A>C p.Q237P Substitution - Missense 16:8919041-8919041 - CSCC-32-T COSM4450289 c.522+2T>C p.? Unknown 16:8921155-8921155 - 9-RS COSM1731893 c.353T>G p.F118C Substitution - Missense 16:8923245-8923245 - TCGA-FP-8631-01 COSM4063679 c.1684C>T p.H562Y Substitution - Missense 16:8904455-8904455 - 46M COSM1609804 c.760A>G p.K254E Substitution - Missense 16:8917117-8917117 - TCGA-22-4599-01 COSM705280 c.3002G>A p.G1001E Substitution - Missense 16:8895068-8895068 - VACO4S COSM4657170 c.3043G>A p.E1015K Substitution - Missense 16:8894852-8894852 - ESCC_BICR_010T COSM5435936 c.2616A>C p.Q872H Substitution - Missense 16:8898555-8898555 - TCGA-EE-A29L-06 COSM3513351 c.3072C>T p.I1024I Substitution - coding silent 16:8894823-8894823 - DN14041 COSM5960952 c.3255C>T p.A1085A Substitution - coding silent 16:8894052-8894052 - HN_62996 COSM130129 c.3208A>G p.M1070V Substitution - Missense 16:8894099-8894099 - TCGA-CG-5728-01 COSM4063659 c.3238G>A p.D1080N Substitution - Missense 16:8894069-8894069 - TCGA-DU-6410-01 COSM3969770 c.1287G>A p.E429E Substitution - coding silent 16:8906567-8906567 - TCGA-C5-A1BM-01 COSM4826464 c.121G>T p.V41L Substitution - Missense 16:8930356-8930356 - CHEWS021 COSM4579396 c.975C>T p.R325R Substitution - coding silent 16:8915457-8915457 - TCGA-AA-A010-01 COSM286411 c.1927G>A p.D643N Substitution - Missense 16:8902395-8902395 - ESCC_BICR_028T COSM5431726 c.91G>C p.D31H Substitution - Missense 16:8930386-8930386 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.706125;Hs.706130 16p13.3 602519

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F234V c.700T>G 16 9012908 LUSC A G IntronicSNV . c.79+11573T>C 16 9045491 CLL A G SpliceDonorSNV . c.2718+2T>C 16 8992215 ESCA C A Missense p.D504Y c.1510G>T 16 8999107 LUAD C A Missense p.D666Y c.1996G>T 16 8995990 MM C A Missense p.D806Y c.2416G>T 16 8993508 LUSC C A Missense p.G215C c.643G>T 16 9012965 CM C A Missense p.G392V c.1175G>T 16 9002294 BRCA C A Missense p.G916W c.2746G>T 16 8990929 STAD C A Missense p.M1021I c.3063G>T 16 8988689 LUAD C A Missense p.R829S c.2487G>T 16 8993022 LUAD C A Missense p.R919L c.2756G>T 16 8990919 LUAD C A Nonsense p.E668* c.2002G>T 16 8995984 LUAD C G Missense p.D981H c.2941G>C 16 8988986 BRCA C G Missense p.E943Q c.2827G>C 16 8989591 HNSC C G Missense p.G475A c.1424G>C 16 9000287 CM C G Missense p.G644A c.1931G>C 16 8996248 LUSC C G Missense p.V929L c.2785G>C 16 8990890 HNSC C T Missense p.A381T c.1141G>A 16 9004622 ALL C T Missense p.D1080N c.3238G>A 16 8987926 STAD C T Missense p.D250N c.748G>A 16 9010986 RCCC C T Missense p.D504N c.1510G>A 16 8999107 UCEC C T Missense p.D643N c.1927G>A 16 8996252 LUSC C T Missense p.E663K c.1987G>A 16 8995999 LUAD C T Missense p.G1001E c.3002G>A 16 8988925 LUSC C T Missense p.G1004E c.3011G>A 16 8988916 BRCA C T Missense p.G725E c.2174G>A 16 8994881 CM C T Missense p.R634Q c.1901G>A 16 8996278 CM C T Missense p.V329M c.985G>A 16 9009304 CM C T Missense p.V822I c.2464G>A 16 8993045 CM C T Synonymous p.A993A c.2979G>A 16 8988948 CM C T Synonymous p.E429E c.1287G>A 16 9000424 LGG C T Synonymous p.E985E c.2955G>A 16 8988972 LUAD C T Synonymous p.K869K c.2607G>A 16 8992421 COREAD C T Synonymous p.L95L c.285G>A 16 9017170 UCEC C T Synonymous p.T696T c.2088G>A 16 8995051 UCEC CT TG Missense p.D913N c.2736_2737delinsCA 16 8990938 CM G A IntronicSNV . c.2719-47C>T 16 8991003 CM G A Missense p.A530V c.1589C>T 16 8998407 GBM G A Missense p.A671V c.2012C>T 16 8995974 CM G A Missense p.H464Y c.1390C>T 16 9000321 ALL G A Missense p.H704Y c.2110C>T 16 8995029 STAD G A Missense p.P471L c.1412C>T 16 9000299 CM G A Missense p.R340W c.1018C>T 16 9009171 LUAD G A Missense p.S600F c.1799C>T 16 8997165 CM G A Missense p.S601L c.1802C>T 16 8997162 BRCA G A Missense p.S710F c.2129C>T 16 8995010 CM G A Missense p.T190I c.569C>T 16 9014258 OV G A Nonsense p.Q979* c.2935C>T 16 8988992 CM G A Synonymous p.D503D c.1509C>T 16 8999108 STAD G A Synonymous p.F661F c.1983C>T 16 8996003 CM G A Synonymous p.I1024I c.3072C>T 16 8988680 CM G A Synonymous p.I332I c.996C>T 16 9009193 CM G A Synonymous p.I885I c.2655C>T 16 8992280 LUSC G A Synonymous p.Y584Y c.1752C>T 16 8997212 BRCA G C Missense p.A27G c.80C>G 16 9024254 OV GT AA Missense p.H210L c.629_630delinsTT 16 9012978 CM G T Missense p.P537T c.1609C>A 16 8998387 LUAD G T Missense p.Q611K c.1831C>A 16 8997133 MM G T Synonymous p.G1046G c.3138C>A 16 8988471 BRCA T A 3-UTRSNV . c.3306+694A>T 16 8987164 HC T A Missense p.K934I c.2801A>T 16 8990874 OV T A Missense p.N359Y c.1075A>T 16 9009114 STAD T A Missense p.T812S c.2434A>T 16 8993490 LUAD T A Synonymous p.A369A c.1107A>T 16 9004656 LUAD T C Missense p.M1070V c.3208A>G 16 8987956 HNSC T C Missense p.N1069D c.3205A>G 16 8987959 UCEC T C Synonymous p.P96P c.288A>G 16 9017167 STAD T - Frameshift p.K278Sfs*2 c.833delA 16 9010901 STAD T - Frameshift p.T440Qfs*30 c.1318delA 16 9000393 STAD T G Missense p.Q237P c.710A>C 16 9012898 RCCC