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 22 21343966 21344002 + Splice_Site DEL GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - TCGA-OR-A5J8-01A-11D-A29I-10 TCGA-OR-A5J8-10A-01D-A29L-10 g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.(646-651)gaggagdel p.EE216fs ACC 22 21343966 21344002 + Splice_Site DEL GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.(646-651)gaggagdel p.EE216fs ACC 22 21343966 21344002 + Splice_Site DEL GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.(646-651)gaggagdel p.EE216fs ACC 22 21343966 21344002 + Splice_Site DEL GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - TCGA-OR-A5KP-01A-11D-A30A-10 TCGA-OR-A5KP-10A-01D-A30A-10 g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.(646-651)gaggagdel p.EE216fs ACC 22 21343966 21344002 + Splice_Site DEL GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - TCGA-OR-A5KV-01A-11D-A29I-10 TCGA-OR-A5KV-10A-01D-A29L-10 g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.(646-651)gaggagdel p.EE216fs ACC 22 21343966 21344002 + Splice_Site DEL GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA c.(646-651)gaggagdel p.EE216fs BLCA 22 21337335 21337335 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr22:21337335G>A c.220G>A c.(220-222)Gtg>Atg p.V74M BLCA 22 21341816 21341816 + Missense_Mutation SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 g.chr22:21341816C>T c.344C>T c.(343-345)cCg>cTg p.P115L BLCA 22 21342377 21342377 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr22:21342377G>A c.479G>A c.(478-480)gGc>gAc p.G160D BLCA 22 21344683 21344683 + Silent SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr22:21344683G>A c.660G>A c.(658-660)caG>caA p.Q220Q BLCA 22 21344765 21344765 + Missense_Mutation SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr22:21344765G>A c.742G>A c.(742-744)Gga>Aga p.G248R BLCA 22 21345947 21345947 + Silent SNP C C T TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr22:21345947C>T c.822C>T c.(820-822)ctC>ctT p.L274L BLCA 22 21345960 21345960 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr22:21345960C>G c.835C>G c.(835-837)Cca>Gca p.P279A BLCA 22 21348902 21348902 + Silent SNP C C T TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr22:21348902C>T c.1671C>T c.(1669-1671)ttC>ttT p.F557F BLCA 22 21350043 21350043 + Missense_Mutation SNP C C G TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr22:21350043C>G c.1951C>G c.(1951-1953)Ctg>Gtg p.L651V BLCA 22 21350043 21350043 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 g.chr22:21350043C>G c.1951C>G c.(1951-1953)Ctg>Gtg p.L651V BLCA 22 21350312 21350312 + Silent SNP C C T TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr22:21350312C>T c.2130C>T c.(2128-2130)atC>atT p.I710I BLCA 22 21350369 21350369 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr22:21350369C>A c.2187C>A c.(2185-2187)taC>taA p.Y729* BLCA 22 21351029 21351029 + Missense_Mutation SNP G G T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr22:21351029G>T c.2264G>T c.(2263-2265)cGg>cTg p.R755L BRCA 22 21342406 21342406 + Splice_Site SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 g.chr22:21342406C>T c.508C>T c.(508-510)Cgg>Tgg p.R170W BRCA 22 21343956 21343956 + Silent SNP C C T TCGA-AC-A3W6-01A-12D-A228-09 TCGA-AC-A3W6-10A-01D-A22A-09 g.chr22:21343956C>T c.636C>T c.(634-636)ctC>ctT p.L212L BRCA 22 21345981 21345981 + Missense_Mutation SNP G G A TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chr22:21345981G>A c.856G>A c.(856-858)Ggg>Agg p.G286R BRCA 22 21348256 21348256 + Missense_Mutation SNP G G A TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr22:21348256G>A c.1397G>A c.(1396-1398)cGg>cAg p.R466Q BRCA 22 21348559 21348559 + Splice_Site SNP G G A TCGA-C8-A1HJ-01A-11D-A13L-09 TCGA-C8-A1HJ-10A-01D-A13O-09 g.chr22:21348559G>A c.e14+1 BRCA 22 21349225 21349225 + Missense_Mutation SNP G G A TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr22:21349225G>A c.1852G>A c.(1852-1854)Gag>Aag p.E618K BRCA 22 21349235 21349235 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr22:21349235C>T c.1862C>T c.(1861-1863)tCc>tTc p.S621F BRCA 22 21350992 21350992 + Frame_Shift_Del DEL T T - TCGA-B6-A0RG-01A-11W-A071-09 TCGA-B6-A0RG-10A-01W-A071-09 g.chr22:21350992delT c.2227delT c.(2227-2229)tttfs p.F743fs BRCA 22 21351225 21351225 + Nonsense_Mutation SNP C C A TCGA-BH-A0BL-01A-11D-A10Y-09 TCGA-BH-A0BL-11A-12D-A10Y-09 g.chr22:21351225C>A c.2376C>A c.(2374-2376)tgC>tgA p.C792* CESC 22 21336750 21336750 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr22:21336750C>G c.90C>G c.(88-90)ttC>ttG p.F30L CESC 22 21345972 21345972 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 g.chr22:21345972C>T c.847C>T c.(847-849)Cgg>Tgg p.R283W CESC 22 21346583 21346583 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr22:21346583C>G c.1074C>G c.(1072-1074)ttC>ttG p.F358L COAD 22 21337347 21337347 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr22:21337347G>T c.232G>T c.(232-234)Gat>Tat p.D78Y COAD 22 21341837 21341837 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr22:21341837C>T c.365C>T c.(364-366)tCg>tTg p.S122L COAD 22 21343922 21343922 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr22:21343922A>G c.602A>G c.(601-603)gAc>gGc p.D201G COAD 22 21344765 21344765 + Missense_Mutation SNP G G A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr22:21344765G>A c.742G>A c.(742-744)Gga>Aga p.G248R COAD 22 21344776 21344776 + Silent SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:21344776A>C c.753A>C c.(751-753)atA>atC p.I251I COAD 22 21344793 21344793 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr22:21344793A>G c.770A>G c.(769-771)cAg>cGg p.Q257R COAD 22 21345925 21345925 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr22:21345925G>A c.800G>A c.(799-801)cGc>cAc p.R267H COAD 22 21346606 21346606 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr22:21346606G>A c.1097G>A c.(1096-1098)gGc>gAc p.G366D COAD 22 21346634 21346634 + Missense_Mutation SNP G G T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr22:21346634G>T c.1125G>T c.(1123-1125)aaG>aaT p.K375N COAD 22 21349195 21349195 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr22:21349195T>G c.1822T>G c.(1822-1824)Ttc>Gtc p.F608V COAD 22 21350078 21350078 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr22:21350078G>A c.1986G>A c.(1984-1986)gcG>gcA p.A662A COAD 22 21350083 21350083 + Missense_Mutation SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr22:21350083C>T c.1991C>T c.(1990-1992)gCg>gTg p.A664V COAD 22 21350343 21350343 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr22:21350343G>A c.2161G>A c.(2161-2163)Gag>Aag p.E721K COAD 22 21350369 21350369 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr22:21350369C>T c.2187C>T c.(2185-2187)taC>taT p.Y729Y COAD 22 21351533 21351533 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr22:21351533C>T c.2419C>T c.(2419-2421)Ccc>Tcc p.P807S COADREAD 22 21337347 21337347 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr22:21337347G>T c.232G>T c.(232-234)Gat>Tat p.D78Y COADREAD 22 21341837 21341837 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr22:21341837C>T c.365C>T c.(364-366)tCg>tTg p.S122L COADREAD 22 21343922 21343922 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr22:21343922A>G c.602A>G c.(601-603)gAc>gGc p.D201G COADREAD 22 21344765 21344765 + Missense_Mutation SNP G G A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr22:21344765G>A c.742G>A c.(742-744)Gga>Aga p.G248R COADREAD 22 21344776 21344776 + Silent SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:21344776A>C c.753A>C c.(751-753)atA>atC p.I251I COADREAD 22 21344793 21344793 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr22:21344793A>G c.770A>G c.(769-771)cAg>cGg p.Q257R COADREAD 22 21345925 21345925 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr22:21345925G>A c.800G>A c.(799-801)cGc>cAc p.R267H COADREAD 22 21346606 21346606 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr22:21346606G>A c.1097G>A c.(1096-1098)gGc>gAc p.G366D COADREAD 22 21346634 21346634 + Missense_Mutation SNP G G T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr22:21346634G>T c.1125G>T c.(1123-1125)aaG>aaT p.K375N COADREAD 22 21349195 21349195 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr22:21349195T>G c.1822T>G c.(1822-1824)Ttc>Gtc p.F608V COADREAD 22 21350078 21350078 + Silent SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr22:21350078G>A c.1986G>A c.(1984-1986)gcG>gcA p.A662A COADREAD 22 21350083 21350083 + Missense_Mutation SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr22:21350083C>T c.1991C>T c.(1990-1992)gCg>gTg p.A664V COADREAD 22 21350343 21350343 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr22:21350343G>A c.2161G>A c.(2161-2163)Gag>Aag p.E721K COADREAD 22 21350369 21350369 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr22:21350369C>T c.2187C>T c.(2185-2187)taC>taT p.Y729Y COADREAD 22 21351533 21351533 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr22:21351533C>T c.2419C>T c.(2419-2421)Ccc>Tcc p.P807S DLBC 22 21347142 21347142 + Silent SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr22:21347142C>T c.1209C>T c.(1207-1209)ttC>ttT p.F403F ESCA 22 21341811 21341811 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 g.chr22:21341811C>T c.339C>T c.(337-339)acC>acT p.T113T ESCA 22 21343119 21343119 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr22:21343119G>T c.551G>T c.(550-552)aGt>aTt p.S184I ESCA 22 21345976 21345976 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr22:21345976G>A c.851G>A c.(850-852)cGc>cAc p.R284H ESCA 22 21346071 21346071 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr22:21346071G>A c.946G>A c.(946-948)Gtg>Atg p.V316M ESCA 22 21346611 21346611 + Missense_Mutation SNP G G C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr22:21346611G>C c.1102G>C c.(1102-1104)Gac>Cac p.D368H ESCA 22 21347194 21347194 + Splice_Site SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr22:21347194G>A c.e11+1 ESCA 22 21348236 21348236 + Silent SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 g.chr22:21348236C>T c.1377C>T c.(1375-1377)caC>caT p.H459H ESCA 22 21348441 21348441 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr22:21348441G>T c.1498G>T c.(1498-1500)Gct>Tct p.A500S ESCA 22 21348483 21348483 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 g.chr22:21348483C>T c.1540C>T c.(1540-1542)Cgg>Tgg p.R514W ESCA 22 21348525 21348525 + Missense_Mutation SNP C C A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr22:21348525C>A c.1582C>A c.(1582-1584)Ctc>Atc p.L528I ESCA 22 21350282 21350282 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 g.chr22:21350282G>T c.2100G>T c.(2098-2100)atG>atT p.M700I GBM 22 21340179 21340179 + Missense_Mutation SNP T T C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr22:21340179T>C c.313T>C c.(313-315)Tgg>Cgg p.W105R GBM 22 21341825 21341825 + Missense_Mutation SNP G G A TCGA-32-4209-01A-01D-1353-08 TCGA-32-4209-10A-01D-1353-08 g.chr22:21341825G>A c.353G>A c.(352-354)cGt>cAt p.R118H GBM 22 21342314 21342314 + Missense_Mutation SNP A A C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 g.chr22:21342314A>C c.416A>C c.(415-417)gAc>gCc p.D139A GBM 22 21342326 21342326 + Missense_Mutation SNP A A C TCGA-76-6657-01A-11D-1845-08 TCGA-76-6657-10A-01D-1845-08 g.chr22:21342326A>C c.428A>C c.(427-429)aAt>aCt p.N143T GBM 22 21343151 21343151 + Missense_Mutation SNP G G A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 g.chr22:21343151G>A c.583G>A c.(583-585)Ggc>Agc p.G195S GBM 22 21344765 21344765 + Missense_Mutation SNP G G A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 g.chr22:21344765G>A c.742G>A c.(742-744)Gga>Aga p.G248R GBM 22 21345975 21345975 + Missense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 g.chr22:21345975C>A c.850C>A c.(850-852)Cgc>Agc p.R284S GBM 22 21349003 21349003 + Missense_Mutation SNP T T G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chr22:21349003T>G c.1772T>G c.(1771-1773)cTg>cGg p.L591R GBM 22 21349215 21349217 + In_Frame_Del DEL GAA GAA - TCGA-14-0862-01B-01D-1845-08 TCGA-14-0862-10C-01D-1845-08 g.chr22:21349215_21349217delGAA c.1842_1844delGAA c.(1840-1845)atgaag>atg p.K615del GBM 22 21351542 21351542 + Missense_Mutation SNP C C T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 g.chr22:21351542C>T c.2428C>T c.(2428-2430)Cgg>Tgg p.R810W GBMLGG 22 21340179 21340179 + Missense_Mutation SNP T T C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr22:21340179T>C c.313T>C c.(313-315)Tgg>Cgg p.W105R GBMLGG 22 21341825 21341825 + Missense_Mutation SNP G G A TCGA-32-4209-01A-01D-1353-08 TCGA-32-4209-10A-01D-1353-08 g.chr22:21341825G>A c.353G>A c.(352-354)cGt>cAt p.R118H GBMLGG 22 21342314 21342314 + Missense_Mutation SNP A A C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 g.chr22:21342314A>C c.416A>C c.(415-417)gAc>gCc p.D139A GBMLGG 22 21342326 21342326 + Missense_Mutation SNP A A C TCGA-76-6657-01A-11D-1845-08 TCGA-76-6657-10A-01D-1845-08 g.chr22:21342326A>C c.428A>C c.(427-429)aAt>aCt p.N143T GBMLGG 22 21343119 21343119 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:21343119G>T c.551G>T c.(550-552)aGt>aTt p.S184I GBMLGG 22 21343151 21343151 + Missense_Mutation SNP G G A TCGA-32-1977-01A-01D-1353-08 TCGA-32-1977-10C-01D-1353-08 g.chr22:21343151G>A c.583G>A c.(583-585)Ggc>Agc p.G195S GBMLGG 22 21344765 21344765 + Missense_Mutation SNP G G A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 g.chr22:21344765G>A c.742G>A c.(742-744)Gga>Aga p.G248R GBMLGG 22 21345975 21345975 + Missense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 g.chr22:21345975C>A c.850C>A c.(850-852)Cgc>Agc p.R284S GBMLGG 22 21347144 21347144 + Missense_Mutation SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 g.chr22:21347144G>A c.1211G>A c.(1210-1212)gGg>gAg p.G404E GBMLGG 22 21348256 21348256 + Missense_Mutation SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 g.chr22:21348256G>A c.1397G>A c.(1396-1398)cGg>cAg p.R466Q GBMLGG 22 21349003 21349003 + Missense_Mutation SNP T T G TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chr22:21349003T>G c.1772T>G c.(1771-1773)cTg>cGg p.L591R GBMLGG 22 21349017 21349017 + Splice_Site SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 g.chr22:21349017G>A c.e15+1 GBMLGG 22 21349215 21349217 + In_Frame_Del DEL GAA GAA - TCGA-14-0862-01B-01D-1845-08 TCGA-14-0862-10C-01D-1845-08 g.chr22:21349215_21349217delGAA c.1842_1844delGAA c.(1840-1845)atgaag>atg p.K615del GBMLGG 22 21351542 21351542 + Missense_Mutation SNP C C T TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 g.chr22:21351542C>T c.2428C>T c.(2428-2430)Cgg>Tgg p.R810W HNSC 22 21347982 21347982 + Missense_Mutation SNP A A T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 g.chr22:21347982A>T c.1292A>T c.(1291-1293)gAg>gTg p.E431V HNSC 22 21348279 21348279 + Missense_Mutation SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 g.chr22:21348279A>G c.1420A>G c.(1420-1422)Atc>Gtc p.I474V HNSC 22 21348988 21348988 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 g.chr22:21348988C>T c.1757C>T c.(1756-1758)gCc>gTc p.A586V HNSC 22 21349206 21349206 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 g.chr22:21349206G>A c.1833G>A c.(1831-1833)gtG>gtA p.V611V HNSC 22 21349209 21349209 + Silent SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 g.chr22:21349209C>A c.1836C>A c.(1834-1836)atC>atA p.I612I HNSC 22 21349277 21349277 + Missense_Mutation SNP C C T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr22:21349277C>T c.1904C>T c.(1903-1905)cCg>cTg p.P635L HNSC 22 21351028 21351028 + Missense_Mutation SNP C C T TCGA-UF-A7JJ-01A-11D-A34J-08 TCGA-UF-A7JJ-10A-01D-A34M-08 g.chr22:21351028C>T c.2263C>T c.(2263-2265)Cgg>Tgg p.R755W HNSC 22 21351208 21351208 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr22:21351208G>C c.2359G>C c.(2359-2361)Gac>Cac p.D787H KIPAN 22 21340180 21340180 + Missense_Mutation SNP G G T TCGA-WN-AB4C-01A-11D-A42J-10 TCGA-WN-AB4C-10A-01D-A42M-10 g.chr22:21340180G>T c.314G>T c.(313-315)tGg>tTg p.W105L KIPAN 22 21343964 21343964 + Missense_Mutation SNP G G T TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr22:21343964G>T c.644G>T c.(643-645)tGg>tTg p.W215L KIPAN 22 21348913 21348913 + Missense_Mutation SNP G G A TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr22:21348913G>A c.1682G>A c.(1681-1683)cGc>cAc p.R561H KIPAN 22 21348927 21348927 + Frame_Shift_Del DEL T T - TCGA-BP-5192-01A-01D-1429-08 TCGA-BP-5192-11A-01D-1429-08 g.chr22:21348927delT c.1696delT c.(1696-1698)tgcfs p.C566fs KIRC 22 21348927 21348927 + Frame_Shift_Del DEL T T - TCGA-BP-5192-01A-01D-1429-08 TCGA-BP-5192-11A-01D-1429-08 g.chr22:21348927delT c.1696delT c.(1696-1698)tgcfs p.C566fs KIRP 22 21340180 21340180 + Missense_Mutation SNP G G T TCGA-WN-AB4C-01A-11D-A42J-10 TCGA-WN-AB4C-10A-01D-A42M-10 g.chr22:21340180G>T c.314G>T c.(313-315)tGg>tTg p.W105L KIRP 22 21343964 21343964 + Missense_Mutation SNP G G T TCGA-5P-A9KC-01A-11D-A42J-10 TCGA-5P-A9KC-10A-01D-A42M-10 g.chr22:21343964G>T c.644G>T c.(643-645)tGg>tTg p.W215L KIRP 22 21348913 21348913 + Missense_Mutation SNP G G A TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr22:21348913G>A c.1682G>A c.(1681-1683)cGc>cAc p.R561H LGG 22 21343119 21343119 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:21343119G>T c.551G>T c.(550-552)aGt>aTt p.S184I LGG 22 21347144 21347144 + Missense_Mutation SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 g.chr22:21347144G>A c.1211G>A c.(1210-1212)gGg>gAg p.G404E LGG 22 21348256 21348256 + Missense_Mutation SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 g.chr22:21348256G>A c.1397G>A c.(1396-1398)cGg>cAg p.R466Q LGG 22 21349017 21349017 + Splice_Site SNP G G A TCGA-P5-A72U-01A-31D-A32B-08 TCGA-P5-A72U-10A-01D-A329-08 g.chr22:21349017G>A c.e15+1 LIHC 22 21348001 21348001 + Nonsense_Mutation SNP G G A TCGA-DD-AAD6-01A-11D-A40R-10 TCGA-DD-AAD6-10A-01D-A40U-10 g.chr22:21348001G>A c.1311G>A c.(1309-1311)tgG>tgA p.W437* LIHC 22 21348307 21348307 + Splice_Site SNP A A T TCGA-ED-A8O5-01A-11D-A35Z-10 TCGA-ED-A8O5-10A-01D-A35Z-10 g.chr22:21348307A>T c.1448A>T c.(1447-1449)cAg>cTg p.Q483L LUAD 22 21336744 21336744 + Silent SNP G G T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr22:21336744G>T c.84G>T c.(82-84)gtG>gtT p.V28V LUAD 22 21336817 21336817 + Missense_Mutation SNP C C T TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 g.chr22:21336817C>T c.157C>T c.(157-159)Cgc>Tgc p.R53C LUAD 22 21336852 21336852 + Silent SNP G G T TCGA-55-7727-01A-11D-2167-08 TCGA-55-7727-10A-01D-2167-08 g.chr22:21336852G>T c.192G>T c.(190-192)gtG>gtT p.V64V LUAD 22 21340155 21340155 + Missense_Mutation SNP C C T TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr22:21340155C>T c.289C>T c.(289-291)Cgg>Tgg p.R97W LUAD 22 21340175 21340175 + Silent SNP C C T TCGA-55-6978-01A-11D-1945-08 TCGA-55-6978-11A-01D-1945-08 g.chr22:21340175C>T c.309C>T c.(307-309)tgC>tgT p.C103C LUAD 22 21341819 21341819 + Frame_Shift_Del DEL C C - TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr22:21341819delC c.347delC c.(346-348)gccfs p.A116fs LUAD 22 21343120 21343120 + Silent SNP T T C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr22:21343120T>C c.552T>C c.(550-552)agT>agC p.S184S LUAD 22 21343151 21343151 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr22:21343151G>T c.583G>T c.(583-585)Ggc>Tgc p.G195C LUAD 22 21344700 21344700 + Missense_Mutation SNP C C T TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr22:21344700C>T c.677C>T c.(676-678)cCa>cTa p.P226L LUAD 22 21344733 21344733 + Missense_Mutation SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 g.chr22:21344733G>T c.710G>T c.(709-711)cGg>cTg p.R237L LUAD 22 21344734 21344734 + Silent SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 g.chr22:21344734G>T c.711G>T c.(709-711)cgG>cgT p.R237R LUAD 22 21348256 21348256 + Frame_Shift_Del DEL G G - TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr22:21348256delG c.1397delG c.(1396-1398)cggfs p.R466fs LUAD 22 21348288 21348288 + Missense_Mutation SNP G G C TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr22:21348288G>C c.1429G>C c.(1429-1431)Gcg>Ccg p.A477P LUAD 22 21348942 21348942 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr22:21348942G>A c.1711G>A c.(1711-1713)Gag>Aag p.E571K LUAD 22 21348945 21348945 + Missense_Mutation SNP G G T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr22:21348945G>T c.1714G>T c.(1714-1716)Gcc>Tcc p.A572S LUAD 22 21349176 21349176 + Missense_Mutation SNP C C G TCGA-17-Z050-01A-01W-0747-08 TCGA-17-Z050-11A-01W-0747-08 g.chr22:21349176C>G c.1803C>G c.(1801-1803)ttC>ttG p.F601L LUAD 22 21349315 21349315 + Splice_Site SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr22:21349315G>T c.1942G>T c.(1942-1944)Ggc>Tgc p.G648C LUAD 22 21350158 21350158 + Missense_Mutation SNP C C G TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr22:21350158C>G c.2066C>G c.(2065-2067)tCc>tGc p.S689C LUSC 22 21337317 21337317 + Splice_Site SNP C C G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 g.chr22:21337317C>G c.202C>G c.(202-204)Cgc>Ggc p.R68G LUSC 22 21345987 21345987 + Missense_Mutation SNP A A G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr22:21345987A>G c.862A>G c.(862-864)Acc>Gcc p.T288A LUSC 22 21347115 21347116 + Missense_Mutation DNP TG TG CT TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr22:21347115_21347116TG>CT c.1182_1183TG>CT c.(1180-1185)gcTGtc>gcCTtc p.V395F LUSC 22 21348291 21348291 + Silent SNP C C A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr22:21348291C>A c.1432C>A c.(1432-1434)Cgg>Agg p.R478R LUSC 22 21350124 21350124 + Missense_Mutation SNP C C T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr22:21350124C>T c.2032C>T c.(2032-2034)Cgg>Tgg p.R678W OV 22 21340180 21340180 + Missense_Mutation SNP G G T TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 g.chr22:21340180G>T c.314G>T c.(313-315)tGg>tTg p.W105L OV 22 21343123 21343123 + Silent SNP C C T TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 g.chr22:21343123C>T c.555C>T c.(553-555)gaC>gaT p.D185D OV 22 21344673 21344673 + Splice_Site SNP A A C TCGA-09-2056-01B-01W-0722-08 TCGA-09-2056-11A-01W-0722-08 g.chr22:21344673A>C c.e8-1 OV 22 21345967 21345967 + Missense_Mutation SNP C C T TCGA-04-1644-01B-01D-1526-09 TCGA-04-1644-11A-01D-1526-09 g.chr22:21345967C>T c.842C>T c.(841-843)cCg>cTg p.P281L OV 22 21347964 21347964 + Missense_Mutation SNP C C A TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 g.chr22:21347964C>A c.1274C>A c.(1273-1275)cCt>cAt p.P425H PAAD 22 21345925 21345925 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:21345925G>A c.800G>A c.(799-801)cGc>cAc p.R267H PRAD 22 21349317 21349317 + Splice_Site SNP T T G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 g.chr22:21349317T>G c.e16+2 SARC 22 21336825 21336825 + Silent SNP G G C TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 g.chr22:21336825G>C c.165G>C c.(163-165)cgG>cgC p.R55R SKCM 22 21340161 21340161 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr22:21340161G>A c.295G>A c.(295-297)Gat>Aat p.D99N SKCM 22 21340172 21340172 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr22:21340172C>T c.306C>T c.(304-306)gaC>gaT p.D102D SKCM 22 21340177 21340177 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr22:21340177C>T c.311C>T c.(310-312)tCc>tTc p.S104F SKCM 22 21340178 21340178 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr22:21340178C>T c.312C>T c.(310-312)tcC>tcT p.S104S SKCM 22 21344742 21344742 + Missense_Mutation SNP T T A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr22:21344742T>A c.719T>A c.(718-720)aTg>aAg p.M240K SKCM 22 21344752 21344752 + Missense_Mutation SNP C C A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr22:21344752C>A c.729C>A c.(727-729)ttC>ttA p.F243L SKCM 22 21344765 21344765 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 g.chr22:21344765G>A c.742G>A c.(742-744)Gga>Aga p.G248R SKCM 22 21348031 21348031 + Silent SNP C C T TCGA-EE-A2A0-06A-11D-A196-08 TCGA-EE-A2A0-10A-01D-A198-08 g.chr22:21348031C>T c.1341C>T c.(1339-1341)ttC>ttT p.F447F SKCM 22 21348405 21348405 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr22:21348405G>A c.1462G>A c.(1462-1464)Gag>Aag p.E488K SKCM 22 21348460 21348460 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:21348460C>T c.1517C>T c.(1516-1518)cCg>cTg p.P506L SKCM 22 21348482 21348482 + Silent SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr22:21348482C>T c.1539C>T c.(1537-1539)atC>atT p.I513I SKCM 22 21348893 21348893 + Silent SNP A A T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr22:21348893A>T c.1662A>T c.(1660-1662)gcA>gcT p.A554A SKCM 22 21350144 21350144 + Silent SNP C C T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr22:21350144C>T c.2052C>T c.(2050-2052)atC>atT p.I684I SKCM 22 21350394 21350394 + Missense_Mutation SNP G G A TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr22:21350394G>A c.2212G>A c.(2212-2214)Gac>Aac p.D738N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 22 21330694 21330694 single base substitution C T upstream_gene_variant BLCA-CN 22 21331990 21331990 single base substitution T G upstream_gene_variant BLCA-US 22 21335037 21335037 single base substitution C G intron_variant BLCA-US 22 21335037 21335037 single base substitution C G upstream_gene_variant BLCA-US 22 21345960 21345960 single base substitution C G 3_prime_UTR_variant BLCA-US 22 21345960 21345960 single base substitution C G downstream_gene_variant BLCA-US 22 21345960 21345960 single base substitution C G exon_variant BLCA-US 22 21345960 21345960 single base substitution C G missense_variant P260A 778C>G BLCA-US 22 21345960 21345960 single base substitution C G missense_variant P279A 835C>G BLCA-US 22 21345960 21345960 single base substitution C G upstream_gene_variant BLCA-US 22 21351029 21351029 single base substitution G T 3_prime_UTR_variant BLCA-US 22 21351029 21351029 single base substitution G T downstream_gene_variant BLCA-US 22 21351029 21351029 single base substitution G T exon_variant BLCA-US 22 21351029 21351029 single base substitution G T missense_variant R54L 161G>T BLCA-US 22 21351029 21351029 single base substitution G T missense_variant R736L 2207G>T BLCA-US 22 21351029 21351029 single base substitution G T missense_variant R755L 2264G>T BLCA-US 22 21354354 21354354 single base substitution C G downstream_gene_variant BLCA-US 22 21354959 21354959 single base substitution G T downstream_gene_variant BRCA-EU 22 21331013 21331013 single base substitution C T upstream_gene_variant BRCA-EU 22 21331201 21331201 single base substitution T C upstream_gene_variant BRCA-EU 22 21333194 21333194 single base substitution T C upstream_gene_variant BRCA-EU 22 21333877 21333877 single base substitution C A exon_variant BRCA-EU 22 21333877 21333877 single base substitution C A upstream_gene_variant BRCA-EU 22 21335585 21335585 single base substitution C G intron_variant BRCA-EU 22 21335585 21335585 single base substitution C G upstream_gene_variant BRCA-EU 22 21336039 21336039 single base substitution C A intron_variant BRCA-EU 22 21336039 21336039 single base substitution C A upstream_gene_variant BRCA-EU 22 21337267 21337267 single base substitution C A intron_variant BRCA-EU 22 21337267 21337267 single base substitution C A upstream_gene_variant BRCA-EU 22 21341214 21341214 single base substitution C T downstream_gene_variant BRCA-EU 22 21341214 21341214 single base substitution C T intron_variant BRCA-EU 22 21341214 21341214 single base substitution C T upstream_gene_variant BRCA-EU 22 21341251 21341251 single base substitution G A downstream_gene_variant BRCA-EU 22 21341251 21341251 single base substitution G A intron_variant BRCA-EU 22 21341251 21341251 single base substitution G A upstream_gene_variant BRCA-EU 22 21343405 21343405 single base substitution G C downstream_gene_variant BRCA-EU 22 21343405 21343405 single base substitution G C intron_variant BRCA-EU 22 21343405 21343405 single base substitution G C upstream_gene_variant BRCA-EU 22 21343888 21343888 single base substitution G T downstream_gene_variant BRCA-EU 22 21343888 21343888 single base substitution G T intron_variant BRCA-EU 22 21343888 21343888 single base substitution G T upstream_gene_variant BRCA-EU 22 21344658 21344658 single base substitution G C downstream_gene_variant BRCA-EU 22 21344658 21344658 single base substitution G C intron_variant BRCA-EU 22 21344658 21344658 single base substitution G C upstream_gene_variant BRCA-EU 22 21346760 21346760 single base substitution G A downstream_gene_variant BRCA-EU 22 21346760 21346760 single base substitution G A exon_variant BRCA-EU 22 21346760 21346760 single base substitution G A intron_variant BRCA-EU 22 21346760 21346760 single base substitution G A upstream_gene_variant BRCA-EU 22 21347244 21347244 single base substitution G A downstream_gene_variant BRCA-EU 22 21347244 21347244 single base substitution G A intron_variant BRCA-EU 22 21347244 21347244 single base substitution G A upstream_gene_variant BRCA-EU 22 21348000 21348000 single base substitution G A downstream_gene_variant BRCA-EU 22 21348000 21348000 single base substitution G A exon_variant BRCA-EU 22 21348000 21348000 single base substitution G A stop_gained W418* 1253G>A BRCA-EU 22 21348000 21348000 single base substitution G A stop_gained W437* 1310G>A BRCA-EU 22 21348000 21348000 single base substitution G A upstream_gene_variant BRCA-EU 22 21349464 21349464 single base substitution G A downstream_gene_variant BRCA-EU 22 21349464 21349464 single base substitution G A exon_variant BRCA-EU 22 21349464 21349464 single base substitution G A intron_variant BRCA-EU 22 21349464 21349464 single base substitution G A upstream_gene_variant BRCA-EU 22 21349730 21349730 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 21349730 21349730 single base substitution C T downstream_gene_variant BRCA-EU 22 21349730 21349730 single base substitution C T exon_variant BRCA-EU 22 21349730 21349730 single base substitution C T intron_variant BRCA-EU 22 21349730 21349730 single base substitution C T upstream_gene_variant BRCA-EU 22 21350481 21350481 single base substitution C G downstream_gene_variant BRCA-EU 22 21350481 21350481 single base substitution C G exon_variant BRCA-EU 22 21350481 21350481 single base substitution C G intron_variant BRCA-EU 22 21350944 21350944 single base substitution C T downstream_gene_variant BRCA-EU 22 21350944 21350944 single base substitution C T exon_variant BRCA-EU 22 21350944 21350944 single base substitution C T intron_variant BRCA-EU 22 21351382 21351382 single base substitution G T downstream_gene_variant BRCA-EU 22 21351382 21351382 single base substitution G T intron_variant BRCA-EU 22 21351382 21351382 single base substitution G T missense_variant A144S 430G>T BRCA-EU 22 21351831 21351831 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 21351831 21351831 single base substitution C T downstream_gene_variant BRCA-EU 22 21351831 21351831 single base substitution C T exon_variant BRCA-EU 22 21351898 21351898 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 21351898 21351898 single base substitution C T downstream_gene_variant BRCA-EU 22 21351898 21351898 single base substitution C T exon_variant BRCA-EU 22 21351956 21351956 single base substitution C A 3_prime_UTR_variant BRCA-EU 22 21351956 21351956 single base substitution C A downstream_gene_variant BRCA-EU 22 21351956 21351956 single base substitution C A exon_variant BRCA-EU 22 21352820 21352820 single base substitution T C 3_prime_UTR_variant BRCA-EU 22 21352820 21352820 single base substitution T C downstream_gene_variant BRCA-EU 22 21352820 21352820 single base substitution T C exon_variant BRCA-EU 22 21352853 21352853 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 22 21352853 21352853 deletion of <=200bp T - downstream_gene_variant BRCA-EU 22 21352853 21352853 deletion of <=200bp T - exon_variant BRCA-EU 22 21353579 21353579 single base substitution C T downstream_gene_variant BRCA-EU 22 21353635 21353635 single base substitution G C downstream_gene_variant BRCA-EU 22 21353642 21353642 single base substitution A C downstream_gene_variant BRCA-EU 22 21357721 21357721 single base substitution G C downstream_gene_variant BRCA-FR 22 21347244 21347244 single base substitution G A downstream_gene_variant BRCA-FR 22 21347244 21347244 single base substitution G A intron_variant BRCA-FR 22 21347244 21347244 single base substitution G A upstream_gene_variant BRCA-FR 22 21350481 21350481 single base substitution C G downstream_gene_variant BRCA-FR 22 21350481 21350481 single base substitution C G exon_variant BRCA-FR 22 21350481 21350481 single base substitution C G intron_variant BRCA-FR 22 21351956 21351956 single base substitution C A 3_prime_UTR_variant BRCA-FR 22 21351956 21351956 single base substitution C A downstream_gene_variant BRCA-FR 22 21351956 21351956 single base substitution C A exon_variant BRCA-UK 22 21330813 21330813 single base substitution G A upstream_gene_variant BRCA-UK 22 21334397 21334397 single base substitution C A exon_variant BRCA-UK 22 21334397 21334397 single base substitution C A upstream_gene_variant BRCA-UK 22 21342316 21342316 single base substitution A G 3_prime_UTR_variant BRCA-UK 22 21342316 21342316 single base substitution A G downstream_gene_variant BRCA-UK 22 21342316 21342316 single base substitution A G exon_variant BRCA-UK 22 21342316 21342316 single base substitution A G missense_variant I121V 361A>G BRCA-UK 22 21342316 21342316 single base substitution A G missense_variant I140V 418A>G BRCA-UK 22 21342316 21342316 single base substitution A G upstream_gene_variant BRCA-UK 22 21342736 21342736 single base substitution G A downstream_gene_variant BRCA-UK 22 21342736 21342736 single base substitution G A intron_variant BRCA-UK 22 21342736 21342736 single base substitution G A upstream_gene_variant BRCA-US 22 21330779 21330779 single base substitution A G upstream_gene_variant BRCA-US 22 21334332 21334332 single base substitution C T exon_variant BRCA-US 22 21334332 21334332 single base substitution C T upstream_gene_variant BRCA-US 22 21342406 21342406 single base substitution C T downstream_gene_variant BRCA-US 22 21342406 21342406 single base substitution C T missense_variant R151W 451C>T BRCA-US 22 21342406 21342406 single base substitution C T missense_variant R170W 508C>T BRCA-US 22 21342406 21342406 single base substitution C T splice_region_variant BRCA-US 22 21342406 21342406 single base substitution C T upstream_gene_variant BRCA-US 22 21343956 21343956 single base substitution C T 3_prime_UTR_variant BRCA-US 22 21343956 21343956 single base substitution C T downstream_gene_variant BRCA-US 22 21343956 21343956 single base substitution C T exon_variant BRCA-US 22 21343956 21343956 single base substitution C T synonymous_variant L193L 579C>T BRCA-US 22 21343956 21343956 single base substitution C T synonymous_variant L212L 636C>T BRCA-US 22 21343956 21343956 single base substitution C T upstream_gene_variant BRCA-US 22 21345981 21345981 single base substitution G A downstream_gene_variant BRCA-US 22 21345981 21345981 single base substitution G A exon_variant BRCA-US 22 21345981 21345981 single base substitution G A missense_variant G267R 799G>A BRCA-US 22 21345981 21345981 single base substitution G A missense_variant G286R 856G>A BRCA-US 22 21345981 21345981 single base substitution G A upstream_gene_variant BRCA-US 22 21347108 21347108 single base substitution C T downstream_gene_variant BRCA-US 22 21347108 21347108 single base substitution C T exon_variant BRCA-US 22 21347108 21347108 single base substitution C T missense_variant A373V 1118C>T BRCA-US 22 21347108 21347108 single base substitution C T missense_variant A392V 1175C>T BRCA-US 22 21347108 21347108 single base substitution C T upstream_gene_variant BRCA-US 22 21348256 21348256 single base substitution G A downstream_gene_variant BRCA-US 22 21348256 21348256 single base substitution G A exon_variant BRCA-US 22 21348256 21348256 single base substitution G A missense_variant R447Q 1340G>A BRCA-US 22 21348256 21348256 single base substitution G A missense_variant R466Q 1397G>A BRCA-US 22 21348256 21348256 single base substitution G A upstream_gene_variant BRCA-US 22 21348559 21348559 single base substitution G A downstream_gene_variant BRCA-US 22 21348559 21348559 single base substitution G A exon_variant BRCA-US 22 21348559 21348559 single base substitution G A splice_donor_variant BRCA-US 22 21348559 21348559 single base substitution G A upstream_gene_variant BRCA-US 22 21349225 21349225 single base substitution G A downstream_gene_variant BRCA-US 22 21349225 21349225 single base substitution G A exon_variant BRCA-US 22 21349225 21349225 single base substitution G A missense_variant E599K 1795G>A BRCA-US 22 21349225 21349225 single base substitution G A missense_variant E618K 1852G>A BRCA-US 22 21349225 21349225 single base substitution G A upstream_gene_variant BRCA-US 22 21349235 21349235 single base substitution C T downstream_gene_variant BRCA-US 22 21349235 21349235 single base substitution C T exon_variant BRCA-US 22 21349235 21349235 single base substitution C T missense_variant S602F 1805C>T BRCA-US 22 21349235 21349235 single base substitution C T missense_variant S621F 1862C>T BRCA-US 22 21349235 21349235 single base substitution C T upstream_gene_variant BRCA-US 22 21350992 21350992 deletion of <=200bp T - 3_prime_UTR_variant BRCA-US 22 21350992 21350992 deletion of <=200bp T - downstream_gene_variant BRCA-US 22 21350992 21350992 deletion of <=200bp T - exon_variant BRCA-US 22 21350992 21350992 deletion of <=200bp T - frameshift_variant F42 BRCA-US 22 21350992 21350992 deletion of <=200bp T - frameshift_variant F724 BRCA-US 22 21350992 21350992 deletion of <=200bp T - frameshift_variant F743 BRCA-US 22 21351225 21351225 single base substitution C A 3_prime_UTR_variant BRCA-US 22 21351225 21351225 single base substitution C A downstream_gene_variant BRCA-US 22 21351225 21351225 single base substitution C A exon_variant BRCA-US 22 21351225 21351225 single base substitution C A stop_gained C773* 2319C>A BRCA-US 22 21351225 21351225 single base substitution C A stop_gained C792* 2376C>A BRCA-US 22 21351225 21351225 single base substitution C A stop_gained C91* 273C>A BRCA-US 22 21351303 21351303 single base substitution G T downstream_gene_variant BRCA-US 22 21351303 21351303 single base substitution G T intron_variant BRCA-US 22 21351303 21351303 single base substitution G T missense_variant W117C 351G>T BRCA-US 22 21354267 21354267 single base substitution C G downstream_gene_variant BRCA-US 22 21354432 21354432 single base substitution C T downstream_gene_variant BRCA-US 22 21356745 21356745 single base substitution T C downstream_gene_variant BRCA-US 22 21357119 21357119 single base substitution G A downstream_gene_variant BTCA-JP 22 21328948 21328948 single base substitution G T upstream_gene_variant BTCA-JP 22 21330449 21330468 deletion of <=200bp GCGGCGAGGCCCAGCCCCAT - upstream_gene_variant BTCA-JP 22 21330813 21330813 single base substitution G T upstream_gene_variant BTCA-JP 22 21330814 21330814 single base substitution A T upstream_gene_variant BTCA-JP 22 21332182 21332182 single base substitution G A upstream_gene_variant BTCA-JP 22 21334013 21334013 single base substitution T G intron_variant BTCA-JP 22 21334013 21334013 single base substitution T G upstream_gene_variant BTCA-JP 22 21334053 21334053 single base substitution C T intron_variant BTCA-JP 22 21334053 21334053 single base substitution C T upstream_gene_variant BTCA-JP 22 21334120 21334120 single base substitution T G intron_variant BTCA-JP 22 21334120 21334120 single base substitution T G upstream_gene_variant BTCA-JP 22 21335147 21335148 deletion of <=200bp AC - intron_variant BTCA-JP 22 21335147 21335148 deletion of <=200bp AC - upstream_gene_variant BTCA-JP 22 21344055 21344055 single base substitution A G downstream_gene_variant BTCA-JP 22 21344055 21344055 single base substitution A G intron_variant BTCA-JP 22 21344055 21344055 single base substitution A G upstream_gene_variant BTCA-JP 22 21344848 21344848 single base substitution C T downstream_gene_variant BTCA-JP 22 21344848 21344848 single base substitution C T exon_variant BTCA-JP 22 21344848 21344848 single base substitution C T intron_variant BTCA-JP 22 21344848 21344848 single base substitution C T upstream_gene_variant BTCA-JP 22 21345973 21345973 single base substitution G A 3_prime_UTR_variant BTCA-JP 22 21345973 21345973 single base substitution G A downstream_gene_variant BTCA-JP 22 21345973 21345973 single base substitution G A exon_variant BTCA-JP 22 21345973 21345973 single base substitution G A missense_variant R264Q 791G>A BTCA-JP 22 21345973 21345973 single base substitution G A missense_variant R283Q 848G>A BTCA-JP 22 21345973 21345973 single base substitution G A upstream_gene_variant BTCA-JP 22 21347150 21347150 single base substitution C T downstream_gene_variant BTCA-JP 22 21347150 21347150 single base substitution C T exon_variant BTCA-JP 22 21347150 21347150 single base substitution C T missense_variant T387M 1160C>T BTCA-JP 22 21347150 21347150 single base substitution C T missense_variant T406M 1217C>T BTCA-JP 22 21347150 21347150 single base substitution C T upstream_gene_variant BTCA-JP 22 21349036 21349036 single base substitution C T downstream_gene_variant BTCA-JP 22 21349036 21349036 single base substitution C T intron_variant BTCA-JP 22 21349036 21349036 single base substitution C T upstream_gene_variant BTCA-JP 22 21351572 21351572 single base substitution A G 3_prime_UTR_variant BTCA-JP 22 21351572 21351572 single base substitution A G downstream_gene_variant BTCA-JP 22 21351572 21351572 single base substitution A G exon_variant BTCA-JP 22 21351572 21351572 single base substitution A G missense_variant I801V 2401A>G BTCA-JP 22 21351572 21351572 single base substitution A G missense_variant I820V 2458A>G BTCA-JP 22 21354948 21354948 single base substitution C G downstream_gene_variant BTCA-JP 22 21356300 21356300 single base substitution T C downstream_gene_variant BTCA-JP 22 21357195 21357195 single base substitution C T downstream_gene_variant CESC-US 22 21329099 21329099 single base substitution C T upstream_gene_variant CESC-US 22 21333933 21333933 single base substitution G A exon_variant CESC-US 22 21333933 21333933 single base substitution G A upstream_gene_variant CESC-US 22 21336750 21336750 single base substitution C G exon_variant CESC-US 22 21336750 21336750 single base substitution C G intron_variant CESC-US 22 21336750 21336750 single base substitution C G missense_variant F30L 90C>G CESC-US 22 21336750 21336750 single base substitution C G upstream_gene_variant CESC-US 22 21345972 21345972 single base substitution C T 3_prime_UTR_variant CESC-US 22 21345972 21345972 single base substitution C T downstream_gene_variant CESC-US 22 21345972 21345972 single base substitution C T exon_variant CESC-US 22 21345972 21345972 single base substitution C T missense_variant R264W 790C>T CESC-US 22 21345972 21345972 single base substitution C T missense_variant R283W 847C>T CESC-US 22 21345972 21345972 single base substitution C T upstream_gene_variant CESC-US 22 21346583 21346583 single base substitution C G downstream_gene_variant CESC-US 22 21346583 21346583 single base substitution C G exon_variant CESC-US 22 21346583 21346583 single base substitution C G missense_variant F339L 1017C>G CESC-US 22 21346583 21346583 single base substitution C G missense_variant F358L 1074C>G CESC-US 22 21346583 21346583 single base substitution C G upstream_gene_variant CESC-US 22 21354220 21354220 single base substitution C T downstream_gene_variant CESC-US 22 21354527 21354527 single base substitution C T downstream_gene_variant CESC-US 22 21354544 21354544 single base substitution C T downstream_gene_variant CESC-US 22 21354707 21354707 single base substitution C T downstream_gene_variant CESC-US 22 21356609 21356609 single base substitution C G downstream_gene_variant CESC-US 22 21357492 21357492 single base substitution G T downstream_gene_variant CLLE-ES 22 21340710 21340710 deletion of <=200bp G - downstream_gene_variant CLLE-ES 22 21340710 21340710 deletion of <=200bp G - intron_variant CLLE-ES 22 21340710 21340710 deletion of <=200bp G - upstream_gene_variant COAD-US 22 21329042 21329042 single base substitution C T upstream_gene_variant COAD-US 22 21329043 21329043 single base substitution G A upstream_gene_variant COAD-US 22 21330018 21330018 single base substitution C T upstream_gene_variant COAD-US 22 21330799 21330799 single base substitution C T upstream_gene_variant COAD-US 22 21337318 21337318 single base substitution G A missense_variant R68H 203G>A COAD-US 22 21337318 21337318 single base substitution G A splice_region_variant COAD-US 22 21337318 21337318 single base substitution G A upstream_gene_variant COAD-US 22 21337325 21337325 single base substitution G A exon_variant COAD-US 22 21337325 21337325 single base substitution G A synonymous_variant K70K 210G>A COAD-US 22 21337325 21337325 single base substitution G A upstream_gene_variant COAD-US 22 21343922 21343922 single base substitution A G 3_prime_UTR_variant COAD-US 22 21343922 21343922 single base substitution A G downstream_gene_variant COAD-US 22 21343922 21343922 single base substitution A G exon_variant COAD-US 22 21343922 21343922 single base substitution A G missense_variant D182G 545A>G COAD-US 22 21343922 21343922 single base substitution A G missense_variant D201G 602A>G COAD-US 22 21343922 21343922 single base substitution A G upstream_gene_variant COAD-US 22 21344776 21344776 single base substitution A C 3_prime_UTR_variant COAD-US 22 21344776 21344776 single base substitution A C downstream_gene_variant COAD-US 22 21344776 21344776 single base substitution A C exon_variant COAD-US 22 21344776 21344776 single base substitution A C synonymous_variant I232I 696A>C COAD-US 22 21344776 21344776 single base substitution A C synonymous_variant I251I 753A>C COAD-US 22 21344776 21344776 single base substitution A C upstream_gene_variant COAD-US 22 21348402 21348402 single base substitution C T downstream_gene_variant COAD-US 22 21348402 21348402 single base substitution C T exon_variant COAD-US 22 21348402 21348402 single base substitution C T stop_gained Q468* 1402C>T COAD-US 22 21348402 21348402 single base substitution C T stop_gained Q487* 1459C>T COAD-US 22 21348402 21348402 single base substitution C T upstream_gene_variant COAD-US 22 21349262 21349262 single base substitution G A downstream_gene_variant COAD-US 22 21349262 21349262 single base substitution G A exon_variant COAD-US 22 21349262 21349262 single base substitution G A missense_variant R611Q 1832G>A COAD-US 22 21349262 21349262 single base substitution G A missense_variant R630Q 1889G>A COAD-US 22 21349262 21349262 single base substitution G A upstream_gene_variant COAD-US 22 21350083 21350083 single base substitution C T 3_prime_UTR_variant COAD-US 22 21350083 21350083 single base substitution C T downstream_gene_variant COAD-US 22 21350083 21350083 single base substitution C T exon_variant COAD-US 22 21350083 21350083 single base substitution C T missense_variant A645V 1934C>T COAD-US 22 21350083 21350083 single base substitution C T missense_variant A664V 1991C>T COAD-US 22 21350083 21350083 single base substitution C T upstream_gene_variant COAD-US 22 21350343 21350343 single base substitution G A 3_prime_UTR_variant COAD-US 22 21350343 21350343 single base substitution G A downstream_gene_variant COAD-US 22 21350343 21350343 single base substitution G A exon_variant COAD-US 22 21350343 21350343 single base substitution G A missense_variant E20K 58G>A COAD-US 22 21350343 21350343 single base substitution G A missense_variant E702K 2104G>A COAD-US 22 21350343 21350343 single base substitution G A missense_variant E721K 2161G>A COAD-US 22 21350369 21350369 single base substitution C T 3_prime_UTR_variant COAD-US 22 21350369 21350369 single base substitution C T downstream_gene_variant COAD-US 22 21350369 21350369 single base substitution C T exon_variant COAD-US 22 21350369 21350369 single base substitution C T synonymous_variant Y28Y 84C>T COAD-US 22 21350369 21350369 single base substitution C T synonymous_variant Y710Y 2130C>T COAD-US 22 21350369 21350369 single base substitution C T synonymous_variant Y729Y 2187C>T COAD-US 22 21354360 21354360 single base substitution C T downstream_gene_variant COCA-CN 22 21330753 21330753 single base substitution C T upstream_gene_variant COCA-CN 22 21331182 21331182 single base substitution C A upstream_gene_variant COCA-CN 22 21332201 21332201 single base substitution G A upstream_gene_variant COCA-CN 22 21333695 21333695 single base substitution G A upstream_gene_variant COCA-CN 22 21334447 21334447 single base substitution G C intron_variant COCA-CN 22 21334447 21334447 single base substitution G C upstream_gene_variant COCA-CN 22 21335029 21335029 single base substitution C T intron_variant COCA-CN 22 21335029 21335029 single base substitution C T upstream_gene_variant COCA-CN 22 21342217 21342217 single base substitution C G downstream_gene_variant COCA-CN 22 21342217 21342217 single base substitution C G intron_variant COCA-CN 22 21342217 21342217 single base substitution C G upstream_gene_variant COCA-CN 22 21343391 21343391 single base substitution G C downstream_gene_variant COCA-CN 22 21343391 21343391 single base substitution G C intron_variant COCA-CN 22 21343391 21343391 single base substitution G C upstream_gene_variant COCA-CN 22 21344018 21344018 single base substitution A G downstream_gene_variant COCA-CN 22 21344018 21344018 single base substitution A G intron_variant COCA-CN 22 21344018 21344018 single base substitution A G upstream_gene_variant COCA-CN 22 21344026 21344026 single base substitution C A downstream_gene_variant COCA-CN 22 21344026 21344026 single base substitution C A intron_variant COCA-CN 22 21344026 21344026 single base substitution C A upstream_gene_variant COCA-CN 22 21344032 21344032 single base substitution C T downstream_gene_variant COCA-CN 22 21344032 21344032 single base substitution C T intron_variant COCA-CN 22 21344032 21344032 single base substitution C T upstream_gene_variant COCA-CN 22 21345976 21345976 single base substitution G A downstream_gene_variant COCA-CN 22 21345976 21345976 single base substitution G A exon_variant COCA-CN 22 21345976 21345976 single base substitution G A missense_variant R265H 794G>A COCA-CN 22 21345976 21345976 single base substitution G A missense_variant R284H 851G>A COCA-CN 22 21345976 21345976 single base substitution G A upstream_gene_variant COCA-CN 22 21346005 21346005 single base substitution C T downstream_gene_variant COCA-CN 22 21346005 21346005 single base substitution C T exon_variant COCA-CN 22 21346005 21346005 single base substitution C T missense_variant R275C 823C>T COCA-CN 22 21346005 21346005 single base substitution C T missense_variant R294C 880C>T COCA-CN 22 21346005 21346005 single base substitution C T upstream_gene_variant COCA-CN 22 21346043 21346043 single base substitution G A downstream_gene_variant COCA-CN 22 21346043 21346043 single base substitution G A exon_variant COCA-CN 22 21346043 21346043 single base substitution G A synonymous_variant T287T 861G>A COCA-CN 22 21346043 21346043 single base substitution G A synonymous_variant T306T 918G>A COCA-CN 22 21346043 21346043 single base substitution G A upstream_gene_variant COCA-CN 22 21346052 21346052 single base substitution C T downstream_gene_variant COCA-CN 22 21346052 21346052 single base substitution C T exon_variant COCA-CN 22 21346052 21346052 single base substitution C T synonymous_variant N290N 870C>T COCA-CN 22 21346052 21346052 single base substitution C T synonymous_variant N309N 927C>T COCA-CN 22 21346052 21346052 single base substitution C T upstream_gene_variant COCA-CN 22 21346749 21346749 single base substitution G A downstream_gene_variant COCA-CN 22 21346749 21346749 single base substitution G A exon_variant COCA-CN 22 21346749 21346749 single base substitution G A intron_variant COCA-CN 22 21346749 21346749 single base substitution G A upstream_gene_variant COCA-CN 22 21349102 21349102 single base substitution G A downstream_gene_variant COCA-CN 22 21349102 21349102 single base substitution G A intron_variant COCA-CN 22 21349102 21349102 single base substitution G A upstream_gene_variant COCA-CN 22 21350461 21350461 single base substitution A G downstream_gene_variant COCA-CN 22 21350461 21350461 single base substitution A G exon_variant COCA-CN 22 21350461 21350461 single base substitution A G intron_variant COCA-CN 22 21354432 21354432 single base substitution C T downstream_gene_variant COCA-CN 22 21357280 21357280 single base substitution G T downstream_gene_variant EOPC-DE 22 21329423 21329423 single base substitution T A upstream_gene_variant ESAD-UK 22 21329083 21329083 single base substitution A G upstream_gene_variant ESAD-UK 22 21329291 21329291 single base substitution G A upstream_gene_variant ESAD-UK 22 21329899 21329899 single base substitution G A upstream_gene_variant ESAD-UK 22 21333628 21333628 single base substitution G A upstream_gene_variant ESAD-UK 22 21336244 21336244 single base substitution G A intron_variant ESAD-UK 22 21336244 21336244 single base substitution G A upstream_gene_variant ESAD-UK 22 21340975 21340975 single base substitution T A downstream_gene_variant ESAD-UK 22 21340975 21340975 single base substitution T A intron_variant ESAD-UK 22 21340975 21340975 single base substitution T A upstream_gene_variant ESAD-UK 22 21344800 21344800 single base substitution A G 3_prime_UTR_variant ESAD-UK 22 21344800 21344800 single base substitution A G downstream_gene_variant ESAD-UK 22 21344800 21344800 single base substitution A G exon_variant ESAD-UK 22 21344800 21344800 single base substitution A G synonymous_variant E240E 720A>G ESAD-UK 22 21344800 21344800 single base substitution A G synonymous_variant E259E 777A>G ESAD-UK 22 21344800 21344800 single base substitution A G upstream_gene_variant ESAD-UK 22 21346497 21346497 single base substitution C G downstream_gene_variant ESAD-UK 22 21346497 21346497 single base substitution C G intron_variant ESAD-UK 22 21346497 21346497 single base substitution C G splice_region_variant ESAD-UK 22 21346497 21346497 single base substitution C G upstream_gene_variant ESAD-UK 22 21349332 21349332 single base substitution C A downstream_gene_variant ESAD-UK 22 21349332 21349332 single base substitution C A exon_variant ESAD-UK 22 21349332 21349332 single base substitution C A intron_variant ESAD-UK 22 21349332 21349332 single base substitution C A upstream_gene_variant ESAD-UK 22 21350391 21350391 single base substitution G T 3_prime_UTR_variant ESAD-UK 22 21350391 21350391 single base substitution G T downstream_gene_variant ESAD-UK 22 21350391 21350391 single base substitution G T exon_variant ESAD-UK 22 21350391 21350391 single base substitution G T stop_gained E36* 106G>T ESAD-UK 22 21350391 21350391 single base substitution G T stop_gained E718* 2152G>T ESAD-UK 22 21350391 21350391 single base substitution G T stop_gained E737* 2209G>T ESAD-UK 22 21350887 21350887 single base substitution G A downstream_gene_variant ESAD-UK 22 21350887 21350887 single base substitution G A exon_variant ESAD-UK 22 21350887 21350887 single base substitution G A intron_variant ESAD-UK 22 21351038 21351038 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 21351038 21351038 single base substitution C T downstream_gene_variant ESAD-UK 22 21351038 21351038 single base substitution C T exon_variant ESAD-UK 22 21351038 21351038 single base substitution C T missense_variant A57V 170C>T ESAD-UK 22 21351038 21351038 single base substitution C T missense_variant A739V 2216C>T ESAD-UK 22 21351038 21351038 single base substitution C T missense_variant A758V 2273C>T ESAD-UK 22 21353963 21353963 single base substitution G C downstream_gene_variant ESAD-UK 22 21357607 21357607 single base substitution C T downstream_gene_variant ESCA-CN 22 21329121 21329121 single base substitution C T upstream_gene_variant ESCA-CN 22 21343966 21344002 deletion of <=200bp GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - downstream_gene_variant ESCA-CN 22 21343966 21344002 deletion of <=200bp GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - splice_donor_variant ESCA-CN 22 21343966 21344002 deletion of <=200bp GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - upstream_gene_variant ESCA-CN 22 21346277 21346277 single base substitution C T downstream_gene_variant ESCA-CN 22 21346277 21346277 single base substitution C T intron_variant ESCA-CN 22 21346277 21346277 single base substitution C T upstream_gene_variant ESCA-CN 22 21350365 21350365 single base substitution A G 3_prime_UTR_variant ESCA-CN 22 21350365 21350365 single base substitution A G downstream_gene_variant ESCA-CN 22 21350365 21350365 single base substitution A G exon_variant ESCA-CN 22 21350365 21350365 single base substitution A G missense_variant Y27C 80A>G ESCA-CN 22 21350365 21350365 single base substitution A G missense_variant Y709C 2126A>G ESCA-CN 22 21350365 21350365 single base substitution A G missense_variant Y728C 2183A>G ESCA-CN 22 21354707 21354707 single base substitution C T downstream_gene_variant GBM-US 22 21332217 21332217 single base substitution A T upstream_gene_variant GBM-US 22 21340179 21340179 single base substitution T C 3_prime_UTR_variant GBM-US 22 21340179 21340179 single base substitution T C exon_variant GBM-US 22 21340179 21340179 single base substitution T C intron_variant GBM-US 22 21340179 21340179 single base substitution T C missense_variant W105R 313T>C GBM-US 22 21340179 21340179 single base substitution T C upstream_gene_variant GBM-US 22 21341825 21341825 single base substitution G A 3_prime_UTR_variant GBM-US 22 21341825 21341825 single base substitution G A downstream_gene_variant GBM-US 22 21341825 21341825 single base substitution G A exon_variant GBM-US 22 21341825 21341825 single base substitution G A intron_variant GBM-US 22 21341825 21341825 single base substitution G A missense_variant R118H 353G>A GBM-US 22 21341825 21341825 single base substitution G A missense_variant R99H 296G>A GBM-US 22 21341825 21341825 single base substitution G A upstream_gene_variant GBM-US 22 21342314 21342314 single base substitution A C 3_prime_UTR_variant GBM-US 22 21342314 21342314 single base substitution A C downstream_gene_variant GBM-US 22 21342314 21342314 single base substitution A C exon_variant GBM-US 22 21342314 21342314 single base substitution A C missense_variant D120A 359A>C GBM-US 22 21342314 21342314 single base substitution A C missense_variant D139A 416A>C GBM-US 22 21342314 21342314 single base substitution A C upstream_gene_variant GBM-US 22 21342326 21342326 single base substitution A C 3_prime_UTR_variant GBM-US 22 21342326 21342326 single base substitution A C downstream_gene_variant GBM-US 22 21342326 21342326 single base substitution A C exon_variant GBM-US 22 21342326 21342326 single base substitution A C missense_variant N124T 371A>C GBM-US 22 21342326 21342326 single base substitution A C missense_variant N143T 428A>C GBM-US 22 21342326 21342326 single base substitution A C upstream_gene_variant GBM-US 22 21343151 21343151 single base substitution G A 3_prime_UTR_variant GBM-US 22 21343151 21343151 single base substitution G A downstream_gene_variant GBM-US 22 21343151 21343151 single base substitution G A exon_variant GBM-US 22 21343151 21343151 single base substitution G A missense_variant G176S 526G>A GBM-US 22 21343151 21343151 single base substitution G A missense_variant G195S 583G>A GBM-US 22 21343151 21343151 single base substitution G A upstream_gene_variant GBM-US 22 21344765 21344765 single base substitution G A 3_prime_UTR_variant GBM-US 22 21344765 21344765 single base substitution G A downstream_gene_variant GBM-US 22 21344765 21344765 single base substitution G A exon_variant GBM-US 22 21344765 21344765 single base substitution G A missense_variant G229R 685G>A GBM-US 22 21344765 21344765 single base substitution G A missense_variant G248R 742G>A GBM-US 22 21344765 21344765 single base substitution G A upstream_gene_variant GBM-US 22 21345975 21345975 single base substitution C A downstream_gene_variant GBM-US 22 21345975 21345975 single base substitution C A exon_variant GBM-US 22 21345975 21345975 single base substitution C A missense_variant R265S 793C>A GBM-US 22 21345975 21345975 single base substitution C A missense_variant R284S 850C>A GBM-US 22 21345975 21345975 single base substitution C A upstream_gene_variant GBM-US 22 21349003 21349003 single base substitution T G downstream_gene_variant GBM-US 22 21349003 21349003 single base substitution T G exon_variant GBM-US 22 21349003 21349003 single base substitution T G missense_variant L572R 1715T>G GBM-US 22 21349003 21349003 single base substitution T G missense_variant L591R 1772T>G GBM-US 22 21349003 21349003 single base substitution T G upstream_gene_variant GBM-US 22 21349215 21349217 deletion of <=200bp GAA - downstream_gene_variant GBM-US 22 21349215 21349217 deletion of <=200bp GAA - exon_variant GBM-US 22 21349215 21349217 deletion of <=200bp GAA - inframe_deletion MK595M GBM-US 22 21349215 21349217 deletion of <=200bp GAA - inframe_deletion MK614M GBM-US 22 21349215 21349217 deletion of <=200bp GAA - upstream_gene_variant GBM-US 22 21351542 21351542 single base substitution C T 3_prime_UTR_variant GBM-US 22 21351542 21351542 single base substitution C T downstream_gene_variant GBM-US 22 21351542 21351542 single base substitution C T exon_variant GBM-US 22 21351542 21351542 single base substitution C T missense_variant R791W 2371C>T GBM-US 22 21351542 21351542 single base substitution C T missense_variant R810W 2428C>T KIRC-US 22 21331018 21331018 single base substitution G T upstream_gene_variant KIRC-US 22 21331182 21331182 single base substitution C G upstream_gene_variant KIRC-US 22 21332000 21332000 single base substitution G A upstream_gene_variant KIRC-US 22 21332205 21332205 single base substitution T A upstream_gene_variant KIRC-US 22 21348927 21348927 deletion of <=200bp T - downstream_gene_variant KIRC-US 22 21348927 21348927 deletion of <=200bp T - exon_variant KIRC-US 22 21348927 21348927 deletion of <=200bp T - frameshift_variant C547 KIRC-US 22 21348927 21348927 deletion of <=200bp T - frameshift_variant C566 KIRC-US 22 21348927 21348927 deletion of <=200bp T - intron_variant KIRC-US 22 21348927 21348927 deletion of <=200bp T - upstream_gene_variant KIRP-US 22 21343966 21344002 deletion of <=200bp GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - downstream_gene_variant KIRP-US 22 21343966 21344002 deletion of <=200bp GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - splice_donor_variant KIRP-US 22 21343966 21344002 deletion of <=200bp GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA - upstream_gene_variant LAML-KR 22 21337266 21337266 single base substitution G A intron_variant LAML-KR 22 21337266 21337266 single base substitution G A upstream_gene_variant LAML-KR 22 21340088 21340088 single base substitution T C intron_variant LAML-KR 22 21340088 21340088 single base substitution T C upstream_gene_variant LAML-KR 22 21340708 21340708 single base substitution A T downstream_gene_variant LAML-KR 22 21340708 21340708 single base substitution A T intron_variant LAML-KR 22 21340708 21340708 single base substitution A T upstream_gene_variant LGG-US 22 21347144 21347144 single base substitution G A downstream_gene_variant LGG-US 22 21347144 21347144 single base substitution G A exon_variant LGG-US 22 21347144 21347144 single base substitution G A missense_variant G385E 1154G>A LGG-US 22 21347144 21347144 single base substitution G A missense_variant G404E 1211G>A LGG-US 22 21347144 21347144 single base substitution G A upstream_gene_variant LGG-US 22 21348256 21348256 single base substitution G A downstream_gene_variant LGG-US 22 21348256 21348256 single base substitution G A exon_variant LGG-US 22 21348256 21348256 single base substitution G A missense_variant R447Q 1340G>A LGG-US 22 21348256 21348256 single base substitution G A missense_variant R466Q 1397G>A LGG-US 22 21348256 21348256 single base substitution G A upstream_gene_variant LICA-CN 22 21329066 21329066 single base substitution A T upstream_gene_variant LICA-CN 22 21348224 21348224 single base substitution C T downstream_gene_variant LICA-CN 22 21348224 21348224 single base substitution C T exon_variant LICA-CN 22 21348224 21348224 single base substitution C T synonymous_variant C436C 1308C>T LICA-CN 22 21348224 21348224 single base substitution C T synonymous_variant C455C 1365C>T LICA-CN 22 21348224 21348224 single base substitution C T upstream_gene_variant LICA-FR 22 21332639 21332639 single base substitution C A upstream_gene_variant LICA-FR 22 21336820 21336820 single base substitution T A exon_variant LICA-FR 22 21336820 21336820 single base substitution T A intron_variant LICA-FR 22 21336820 21336820 single base substitution T A missense_variant W54R 160T>A LICA-FR 22 21336820 21336820 single base substitution T A upstream_gene_variant LICA-FR 22 21341794 21341794 single base substitution G A downstream_gene_variant LICA-FR 22 21341794 21341794 single base substitution G A intron_variant LICA-FR 22 21341794 21341794 single base substitution G A missense_variant A108T 322G>A LICA-FR 22 21341794 21341794 single base substitution G A missense_variant A89T 265G>A LICA-FR 22 21341794 21341794 single base substitution G A splice_region_variant LICA-FR 22 21341794 21341794 single base substitution G A upstream_gene_variant LICA-FR 22 21342494 21342494 single base substitution A T downstream_gene_variant LICA-FR 22 21342494 21342494 single base substitution A T intron_variant LICA-FR 22 21342494 21342494 single base substitution A T upstream_gene_variant LICA-FR 22 21347107 21347107 single base substitution G A downstream_gene_variant LICA-FR 22 21347107 21347107 single base substitution G A exon_variant LICA-FR 22 21347107 21347107 single base substitution G A missense_variant A373T 1117G>A LICA-FR 22 21347107 21347107 single base substitution G A missense_variant A392T 1174G>A LICA-FR 22 21347107 21347107 single base substitution G A upstream_gene_variant LICA-FR 22 21347142 21347142 single base substitution C A downstream_gene_variant LICA-FR 22 21347142 21347142 single base substitution C A exon_variant LICA-FR 22 21347142 21347142 single base substitution C A missense_variant F384L 1152C>A LICA-FR 22 21347142 21347142 single base substitution C A missense_variant F403L 1209C>A LICA-FR 22 21347142 21347142 single base substitution C A upstream_gene_variant LIHC-US 22 21354333 21354333 single base substitution G A downstream_gene_variant LINC-JP 22 21331069 21331069 single base substitution A T upstream_gene_variant LINC-JP 22 21331202 21331202 single base substitution C T upstream_gene_variant LINC-JP 22 21332182 21332182 single base substitution G A upstream_gene_variant LINC-JP 22 21332374 21332374 single base substitution C T upstream_gene_variant LINC-JP 22 21334013 21334013 single base substitution T G intron_variant LINC-JP 22 21334013 21334013 single base substitution T G upstream_gene_variant LINC-JP 22 21334120 21334120 single base substitution T G intron_variant LINC-JP 22 21334120 21334120 single base substitution T G upstream_gene_variant LINC-JP 22 21336838 21336838 single base substitution T A exon_variant LINC-JP 22 21336838 21336838 single base substitution T A intron_variant LINC-JP 22 21336838 21336838 single base substitution T A missense_variant C60S 178T>A LINC-JP 22 21336838 21336838 single base substitution T A upstream_gene_variant LINC-JP 22 21343874 21343874 single base substitution A T downstream_gene_variant LINC-JP 22 21343874 21343874 single base substitution A T intron_variant LINC-JP 22 21343874 21343874 single base substitution A T upstream_gene_variant LINC-JP 22 21347107 21347107 single base substitution G A downstream_gene_variant LINC-JP 22 21347107 21347107 single base substitution G A exon_variant LINC-JP 22 21347107 21347107 single base substitution G A missense_variant A373T 1117G>A LINC-JP 22 21347107 21347107 single base substitution G A missense_variant A392T 1174G>A LINC-JP 22 21347107 21347107 single base substitution G A upstream_gene_variant LINC-JP 22 21349618 21349618 single base substitution G C downstream_gene_variant LINC-JP 22 21349618 21349618 single base substitution G C exon_variant LINC-JP 22 21349618 21349618 single base substitution G C intron_variant LINC-JP 22 21349618 21349618 single base substitution G C upstream_gene_variant LINC-JP 22 21352913 21352913 single base substitution T C 3_prime_UTR_variant LINC-JP 22 21352913 21352913 single base substitution T C downstream_gene_variant LINC-JP 22 21352913 21352913 single base substitution T C exon_variant LINC-JP 22 21357377 21357377 single base substitution C G downstream_gene_variant LIRI-JP 22 21330544 21330544 single base substitution A T upstream_gene_variant LIRI-JP 22 21331689 21331689 single base substitution G T upstream_gene_variant LIRI-JP 22 21333280 21333280 single base substitution C G upstream_gene_variant LIRI-JP 22 21335201 21335201 single base substitution C T intron_variant LIRI-JP 22 21335201 21335201 single base substitution C T upstream_gene_variant LIRI-JP 22 21335938 21335938 single base substitution T G intron_variant LIRI-JP 22 21335938 21335938 single base substitution T G upstream_gene_variant LIRI-JP 22 21336757 21336757 single base substitution A G exon_variant LIRI-JP 22 21336757 21336757 single base substitution A G intron_variant LIRI-JP 22 21336757 21336757 single base substitution A G missense_variant S33G 97A>G LIRI-JP 22 21336757 21336757 single base substitution A G upstream_gene_variant LIRI-JP 22 21339443 21339443 single base substitution G A intron_variant LIRI-JP 22 21339443 21339443 single base substitution G A upstream_gene_variant LIRI-JP 22 21340462 21340462 deletion of <=200bp G - downstream_gene_variant LIRI-JP 22 21340462 21340462 deletion of <=200bp G - intron_variant LIRI-JP 22 21340462 21340462 deletion of <=200bp G - splice_region_variant LIRI-JP 22 21340462 21340462 deletion of <=200bp G - upstream_gene_variant LIRI-JP 22 21347114 21347114 single base substitution C A downstream_gene_variant LIRI-JP 22 21347114 21347114 single base substitution C A exon_variant LIRI-JP 22 21347114 21347114 single base substitution C A missense_variant A375D 1124C>A LIRI-JP 22 21347114 21347114 single base substitution C A missense_variant A394D 1181C>A LIRI-JP 22 21347114 21347114 single base substitution C A upstream_gene_variant LIRI-JP 22 21350936 21350936 single base substitution G A downstream_gene_variant LIRI-JP 22 21350936 21350936 single base substitution G A exon_variant LIRI-JP 22 21350936 21350936 single base substitution G A intron_variant LIRI-JP 22 21351099 21351099 single base substitution C A downstream_gene_variant LIRI-JP 22 21351099 21351099 single base substitution C A exon_variant LIRI-JP 22 21351099 21351099 single base substitution C A intron_variant LIRI-JP 22 21351756 21351756 single base substitution A T 3_prime_UTR_variant LIRI-JP 22 21351756 21351756 single base substitution A T downstream_gene_variant LIRI-JP 22 21351756 21351756 single base substitution A T exon_variant LIRI-JP 22 21352727 21352727 single base substitution T C 3_prime_UTR_variant LIRI-JP 22 21352727 21352727 single base substitution T C downstream_gene_variant LIRI-JP 22 21352727 21352727 single base substitution T C exon_variant LIRI-JP 22 21358053 21358053 single base substitution G T downstream_gene_variant LUSC-KR 22 21329123 21329123 single base substitution A G upstream_gene_variant LUSC-KR 22 21332409 21332409 single base substitution G A upstream_gene_variant LUSC-KR 22 21332441 21332441 single base substitution T C upstream_gene_variant LUSC-KR 22 21332443 21332443 single base substitution G A upstream_gene_variant LUSC-KR 22 21333268 21333268 single base substitution C A upstream_gene_variant LUSC-KR 22 21334873 21334873 single base substitution G C intron_variant LUSC-KR 22 21334873 21334873 single base substitution G C upstream_gene_variant LUSC-KR 22 21338145 21338145 single base substitution C T intron_variant LUSC-KR 22 21338145 21338145 single base substitution C T upstream_gene_variant LUSC-KR 22 21340088 21340088 single base substitution T C intron_variant LUSC-KR 22 21340088 21340088 single base substitution T C upstream_gene_variant LUSC-KR 22 21347817 21347817 single base substitution C A downstream_gene_variant LUSC-KR 22 21347817 21347817 single base substitution C A intron_variant LUSC-KR 22 21347817 21347817 single base substitution C A upstream_gene_variant LUSC-KR 22 21350372 21350372 single base substitution C A 3_prime_UTR_variant LUSC-KR 22 21350372 21350372 single base substitution C A downstream_gene_variant LUSC-KR 22 21350372 21350372 single base substitution C A exon_variant LUSC-KR 22 21350372 21350372 single base substitution C A synonymous_variant G29G 87C>A LUSC-KR 22 21350372 21350372 single base substitution C A synonymous_variant G711G 2133C>A LUSC-KR 22 21350372 21350372 single base substitution C A synonymous_variant G730G 2190C>A LUSC-US 22 21329007 21329007 single base substitution G C upstream_gene_variant LUSC-US 22 21330039 21330039 single base substitution A G upstream_gene_variant LUSC-US 22 21331176 21331176 single base substitution G A upstream_gene_variant LUSC-US 22 21337317 21337317 single base substitution C G missense_variant R68G 202C>G LUSC-US 22 21337317 21337317 single base substitution C G splice_region_variant LUSC-US 22 21337317 21337317 single base substitution C G upstream_gene_variant LUSC-US 22 21345987 21345987 single base substitution A G downstream_gene_variant LUSC-US 22 21345987 21345987 single base substitution A G exon_variant LUSC-US 22 21345987 21345987 single base substitution A G missense_variant T269A 805A>G LUSC-US 22 21345987 21345987 single base substitution A G missense_variant T288A 862A>G LUSC-US 22 21345987 21345987 single base substitution A G upstream_gene_variant LUSC-US 22 21347115 21347115 single base substitution T C downstream_gene_variant LUSC-US 22 21347115 21347115 single base substitution T C exon_variant LUSC-US 22 21347115 21347115 single base substitution T C synonymous_variant A375A 1125T>C LUSC-US 22 21347115 21347115 single base substitution T C synonymous_variant A394A 1182T>C LUSC-US 22 21347115 21347115 single base substitution T C upstream_gene_variant LUSC-US 22 21347116 21347116 single base substitution G T downstream_gene_variant LUSC-US 22 21347116 21347116 single base substitution G T exon_variant LUSC-US 22 21347116 21347116 single base substitution G T missense_variant V376F 1126G>T LUSC-US 22 21347116 21347116 single base substitution G T missense_variant V395F 1183G>T LUSC-US 22 21347116 21347116 single base substitution G T upstream_gene_variant LUSC-US 22 21348291 21348291 single base substitution C A downstream_gene_variant LUSC-US 22 21348291 21348291 single base substitution C A exon_variant LUSC-US 22 21348291 21348291 single base substitution C A synonymous_variant R459R 1375C>A LUSC-US 22 21348291 21348291 single base substitution C A synonymous_variant R478R 1432C>A LUSC-US 22 21348291 21348291 single base substitution C A upstream_gene_variant LUSC-US 22 21350124 21350124 single base substitution C T 3_prime_UTR_variant LUSC-US 22 21350124 21350124 single base substitution C T downstream_gene_variant LUSC-US 22 21350124 21350124 single base substitution C T exon_variant LUSC-US 22 21350124 21350124 single base substitution C T missense_variant R659W 1975C>T LUSC-US 22 21350124 21350124 single base substitution C T missense_variant R678W 2032C>T LUSC-US 22 21350124 21350124 single base substitution C T upstream_gene_variant LUSC-US 22 21355637 21355637 single base substitution G A downstream_gene_variant MALY-DE 22 21335277 21335279 deletion of <=200bp GCA - intron_variant MALY-DE 22 21335277 21335279 deletion of <=200bp GCA - upstream_gene_variant MALY-DE 22 21337318 21337318 single base substitution G A missense_variant R68H 203G>A MALY-DE 22 21337318 21337318 single base substitution G A splice_region_variant MALY-DE 22 21337318 21337318 single base substitution G A upstream_gene_variant MALY-DE 22 21338835 21338835 single base substitution T C intron_variant MALY-DE 22 21338835 21338835 single base substitution T C upstream_gene_variant MALY-DE 22 21341204 21341204 single base substitution T A downstream_gene_variant MALY-DE 22 21341204 21341204 single base substitution T A intron_variant MALY-DE 22 21341204 21341204 single base substitution T A upstream_gene_variant MALY-DE 22 21344406 21344406 single base substitution A T downstream_gene_variant MALY-DE 22 21344406 21344406 single base substitution A T intron_variant MALY-DE 22 21344406 21344406 single base substitution A T upstream_gene_variant MELA-AU 22 21328922 21328922 single base substitution G A upstream_gene_variant MELA-AU 22 21329129 21329129 single base substitution G A upstream_gene_variant MELA-AU 22 21329204 21329204 single base substitution C T upstream_gene_variant MELA-AU 22 21329731 21329731 insertion of <=200bp - T upstream_gene_variant MELA-AU 22 21329980 21329980 single base substitution G A upstream_gene_variant MELA-AU 22 21330017 21330017 single base substitution C T upstream_gene_variant MELA-AU 22 21330086 21330086 single base substitution G A upstream_gene_variant MELA-AU 22 21330315 21330315 single base substitution G A upstream_gene_variant MELA-AU 22 21330526 21330526 single base substitution C T upstream_gene_variant MELA-AU 22 21330622 21330622 single base substitution G A upstream_gene_variant MELA-AU 22 21330805 21330805 single base substitution C T upstream_gene_variant MELA-AU 22 21330850 21330850 single base substitution G A upstream_gene_variant MELA-AU 22 21330895 21330895 single base substitution G A upstream_gene_variant MELA-AU 22 21331041 21331041 single base substitution C G upstream_gene_variant MELA-AU 22 21331233 21331233 single base substitution C T upstream_gene_variant MELA-AU 22 21331469 21331469 single base substitution C T upstream_gene_variant MELA-AU 22 21331695 21331695 single base substitution G A upstream_gene_variant MELA-AU 22 21331952 21331952 single base substitution G A upstream_gene_variant MELA-AU 22 21332011 21332011 single base substitution C T upstream_gene_variant MELA-AU 22 21332231 21332231 single base substitution C T upstream_gene_variant MELA-AU 22 21332232 21332233 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 21332306 21332306 single base substitution C T upstream_gene_variant MELA-AU 22 21332327 21332328 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 21332640 21332641 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 21332840 21332840 single base substitution G A upstream_gene_variant MELA-AU 22 21332926 21332926 single base substitution C T upstream_gene_variant MELA-AU 22 21332933 21332933 single base substitution C T upstream_gene_variant MELA-AU 22 21333680 21333680 single base substitution G A upstream_gene_variant MELA-AU 22 21333764 21333764 single base substitution G A exon_variant MELA-AU 22 21333764 21333764 single base substitution G A upstream_gene_variant MELA-AU 22 21334292 21334292 single base substitution C T intron_variant MELA-AU 22 21334292 21334292 single base substitution C T upstream_gene_variant MELA-AU 22 21334591 21334591 single base substitution G A intron_variant MELA-AU 22 21334591 21334591 single base substitution G A upstream_gene_variant MELA-AU 22 21334632 21334632 single base substitution T A intron_variant MELA-AU 22 21334632 21334632 single base substitution T A upstream_gene_variant MELA-AU 22 21334960 21334960 single base substitution G A intron_variant MELA-AU 22 21334960 21334960 single base substitution G A upstream_gene_variant MELA-AU 22 21335514 21335514 single base substitution C T intron_variant MELA-AU 22 21335514 21335514 single base substitution C T upstream_gene_variant MELA-AU 22 21336847 21336847 single base substitution T C exon_variant MELA-AU 22 21336847 21336847 single base substitution T C intron_variant MELA-AU 22 21336847 21336847 single base substitution T C missense_variant F63L 187T>C MELA-AU 22 21336847 21336847 single base substitution T C upstream_gene_variant MELA-AU 22 21337545 21337545 single base substitution G T intron_variant MELA-AU 22 21337545 21337545 single base substitution G T upstream_gene_variant MELA-AU 22 21338020 21338020 single base substitution G A intron_variant MELA-AU 22 21338020 21338020 single base substitution G A upstream_gene_variant MELA-AU 22 21338187 21338187 single base substitution C T intron_variant MELA-AU 22 21338187 21338187 single base substitution C T upstream_gene_variant MELA-AU 22 21338907 21338907 single base substitution G C intron_variant MELA-AU 22 21338907 21338907 single base substitution G C upstream_gene_variant MELA-AU 22 21339316 21339316 single base substitution G T intron_variant MELA-AU 22 21339316 21339316 single base substitution G T upstream_gene_variant MELA-AU 22 21339568 21339568 single base substitution C A intron_variant MELA-AU 22 21339568 21339568 single base substitution C A upstream_gene_variant MELA-AU 22 21339837 21339837 single base substitution C T intron_variant MELA-AU 22 21339837 21339837 single base substitution C T upstream_gene_variant MELA-AU 22 21339917 21339917 single base substitution T C intron_variant MELA-AU 22 21339917 21339917 single base substitution T C upstream_gene_variant MELA-AU 22 21340161 21340161 single base substitution G A exon_variant MELA-AU 22 21340161 21340161 single base substitution G A intron_variant MELA-AU 22 21340161 21340161 single base substitution G A missense_variant D99N 295G>A MELA-AU 22 21340161 21340161 single base substitution G A upstream_gene_variant MELA-AU 22 21340197 21340197 single base substitution C T exon_variant MELA-AU 22 21340197 21340197 single base substitution C T intron_variant MELA-AU 22 21340197 21340197 single base substitution C T upstream_gene_variant MELA-AU 22 21340301 21340301 single base substitution C T downstream_gene_variant MELA-AU 22 21340301 21340301 single base substitution C T intron_variant MELA-AU 22 21340301 21340301 single base substitution C T upstream_gene_variant MELA-AU 22 21341802 21341802 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21341802 21341802 single base substitution C T downstream_gene_variant MELA-AU 22 21341802 21341802 single base substitution C T exon_variant MELA-AU 22 21341802 21341802 single base substitution C T intron_variant MELA-AU 22 21341802 21341802 single base substitution C T synonymous_variant T110T 330C>T MELA-AU 22 21341802 21341802 single base substitution C T synonymous_variant T91T 273C>T MELA-AU 22 21341802 21341802 single base substitution C T upstream_gene_variant MELA-AU 22 21342659 21342659 single base substitution C T downstream_gene_variant MELA-AU 22 21342659 21342659 single base substitution C T intron_variant MELA-AU 22 21342659 21342659 single base substitution C T upstream_gene_variant MELA-AU 22 21342779 21342779 single base substitution C T downstream_gene_variant MELA-AU 22 21342779 21342779 single base substitution C T intron_variant MELA-AU 22 21342779 21342779 single base substitution C T upstream_gene_variant MELA-AU 22 21343052 21343052 single base substitution C T downstream_gene_variant MELA-AU 22 21343052 21343052 single base substitution C T intron_variant MELA-AU 22 21343052 21343052 single base substitution C T upstream_gene_variant MELA-AU 22 21343112 21343112 single base substitution G A 3_prime_UTR_variant MELA-AU 22 21343112 21343112 single base substitution G A downstream_gene_variant MELA-AU 22 21343112 21343112 single base substitution G A exon_variant MELA-AU 22 21343112 21343112 single base substitution G A missense_variant V163M 487G>A MELA-AU 22 21343112 21343112 single base substitution G A missense_variant V182M 544G>A MELA-AU 22 21343112 21343112 single base substitution G A upstream_gene_variant MELA-AU 22 21343779 21343779 single base substitution C T downstream_gene_variant MELA-AU 22 21343779 21343779 single base substitution C T intron_variant MELA-AU 22 21343779 21343779 single base substitution C T upstream_gene_variant MELA-AU 22 21344591 21344591 single base substitution C T downstream_gene_variant MELA-AU 22 21344591 21344591 single base substitution C T intron_variant MELA-AU 22 21344591 21344591 single base substitution C T upstream_gene_variant MELA-AU 22 21344666 21344666 single base substitution C T downstream_gene_variant MELA-AU 22 21344666 21344666 single base substitution C T intron_variant MELA-AU 22 21344666 21344666 single base substitution C T upstream_gene_variant MELA-AU 22 21344696 21344696 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21344696 21344696 single base substitution C T downstream_gene_variant MELA-AU 22 21344696 21344696 single base substitution C T exon_variant MELA-AU 22 21344696 21344696 single base substitution C T missense_variant P206S 616C>T MELA-AU 22 21344696 21344696 single base substitution C T missense_variant P225S 673C>T MELA-AU 22 21344696 21344696 single base substitution C T upstream_gene_variant MELA-AU 22 21344747 21344747 single base substitution G A 3_prime_UTR_variant MELA-AU 22 21344747 21344747 single base substitution G A downstream_gene_variant MELA-AU 22 21344747 21344747 single base substitution G A exon_variant MELA-AU 22 21344747 21344747 single base substitution G A missense_variant V223I 667G>A MELA-AU 22 21344747 21344747 single base substitution G A missense_variant V242I 724G>A MELA-AU 22 21344747 21344747 single base substitution G A upstream_gene_variant MELA-AU 22 21344786 21344786 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21344786 21344786 single base substitution C T downstream_gene_variant MELA-AU 22 21344786 21344786 single base substitution C T exon_variant MELA-AU 22 21344786 21344786 single base substitution C T missense_variant L236F 706C>T MELA-AU 22 21344786 21344786 single base substitution C T missense_variant L255F 763C>T MELA-AU 22 21344786 21344786 single base substitution C T upstream_gene_variant MELA-AU 22 21344806 21344806 single base substitution G A 3_prime_UTR_variant MELA-AU 22 21344806 21344806 single base substitution G A downstream_gene_variant MELA-AU 22 21344806 21344806 single base substitution G A exon_variant MELA-AU 22 21344806 21344806 single base substitution G A synonymous_variant K242K 726G>A MELA-AU 22 21344806 21344806 single base substitution G A synonymous_variant K261K 783G>A MELA-AU 22 21344806 21344806 single base substitution G A upstream_gene_variant MELA-AU 22 21345212 21345212 single base substitution C T downstream_gene_variant MELA-AU 22 21345212 21345212 single base substitution C T exon_variant MELA-AU 22 21345212 21345212 single base substitution C T intron_variant MELA-AU 22 21345212 21345212 single base substitution C T upstream_gene_variant MELA-AU 22 21345505 21345505 single base substitution T G downstream_gene_variant MELA-AU 22 21345505 21345505 single base substitution T G intron_variant MELA-AU 22 21345505 21345505 single base substitution T G upstream_gene_variant MELA-AU 22 21345861 21345861 single base substitution C T downstream_gene_variant MELA-AU 22 21345861 21345861 single base substitution C T intron_variant MELA-AU 22 21345861 21345861 single base substitution C T upstream_gene_variant MELA-AU 22 21345929 21345929 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21345929 21345929 single base substitution C T downstream_gene_variant MELA-AU 22 21345929 21345929 single base substitution C T exon_variant MELA-AU 22 21345929 21345929 single base substitution C T synonymous_variant I249I 747C>T MELA-AU 22 21345929 21345929 single base substitution C T synonymous_variant I268I 804C>T MELA-AU 22 21345929 21345929 single base substitution C T upstream_gene_variant MELA-AU 22 21345964 21345964 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21345964 21345964 single base substitution C T downstream_gene_variant MELA-AU 22 21345964 21345964 single base substitution C T exon_variant MELA-AU 22 21345964 21345964 single base substitution C T missense_variant P261L 782C>T MELA-AU 22 21345964 21345964 single base substitution C T missense_variant P280L 839C>T MELA-AU 22 21345964 21345964 single base substitution C T upstream_gene_variant MELA-AU 22 21346190 21346190 single base substitution C T downstream_gene_variant MELA-AU 22 21346190 21346190 single base substitution C T intron_variant MELA-AU 22 21346190 21346190 single base substitution C T upstream_gene_variant MELA-AU 22 21346477 21346477 single base substitution C T downstream_gene_variant MELA-AU 22 21346477 21346477 single base substitution C T intron_variant MELA-AU 22 21346477 21346477 single base substitution C T upstream_gene_variant MELA-AU 22 21346747 21346747 single base substitution C T downstream_gene_variant MELA-AU 22 21346747 21346747 single base substitution C T exon_variant MELA-AU 22 21346747 21346747 single base substitution C T intron_variant MELA-AU 22 21346747 21346747 single base substitution C T upstream_gene_variant MELA-AU 22 21346888 21346888 single base substitution C T downstream_gene_variant MELA-AU 22 21346888 21346888 single base substitution C T intron_variant MELA-AU 22 21346888 21346888 single base substitution C T upstream_gene_variant MELA-AU 22 21347809 21347809 single base substitution C T downstream_gene_variant MELA-AU 22 21347809 21347809 single base substitution C T intron_variant MELA-AU 22 21347809 21347809 single base substitution C T upstream_gene_variant MELA-AU 22 21348031 21348031 single base substitution C T downstream_gene_variant MELA-AU 22 21348031 21348031 single base substitution C T exon_variant MELA-AU 22 21348031 21348031 single base substitution C T synonymous_variant F428F 1284C>T MELA-AU 22 21348031 21348031 single base substitution C T synonymous_variant F447F 1341C>T MELA-AU 22 21348031 21348031 single base substitution C T upstream_gene_variant MELA-AU 22 21348275 21348275 single base substitution G A downstream_gene_variant MELA-AU 22 21348275 21348275 single base substitution G A exon_variant MELA-AU 22 21348275 21348275 single base substitution G A synonymous_variant R453R 1359G>A MELA-AU 22 21348275 21348275 single base substitution G A synonymous_variant R472R 1416G>A MELA-AU 22 21348275 21348275 single base substitution G A upstream_gene_variant MELA-AU 22 21348405 21348405 single base substitution G A downstream_gene_variant MELA-AU 22 21348405 21348405 single base substitution G A exon_variant MELA-AU 22 21348405 21348405 single base substitution G A missense_variant E469K 1405G>A MELA-AU 22 21348405 21348405 single base substitution G A missense_variant E488K 1462G>A MELA-AU 22 21348405 21348405 single base substitution G A upstream_gene_variant MELA-AU 22 21348498 21348498 single base substitution C T downstream_gene_variant MELA-AU 22 21348498 21348498 single base substitution C T exon_variant MELA-AU 22 21348498 21348498 single base substitution C T missense_variant R500W 1498C>T MELA-AU 22 21348498 21348498 single base substitution C T missense_variant R519W 1555C>T MELA-AU 22 21348498 21348498 single base substitution C T upstream_gene_variant MELA-AU 22 21348715 21348715 single base substitution C T downstream_gene_variant MELA-AU 22 21348715 21348715 single base substitution C T exon_variant MELA-AU 22 21348715 21348715 single base substitution C T intron_variant MELA-AU 22 21348715 21348715 single base substitution C T upstream_gene_variant MELA-AU 22 21348828 21348828 single base substitution C T downstream_gene_variant MELA-AU 22 21348828 21348828 single base substitution C T exon_variant MELA-AU 22 21348828 21348828 single base substitution C T intron_variant MELA-AU 22 21348828 21348828 single base substitution C T upstream_gene_variant MELA-AU 22 21349215 21349215 single base substitution G A downstream_gene_variant MELA-AU 22 21349215 21349215 single base substitution G A exon_variant MELA-AU 22 21349215 21349215 single base substitution G A missense_variant M595I 1785G>A MELA-AU 22 21349215 21349215 single base substitution G A missense_variant M614I 1842G>A MELA-AU 22 21349215 21349215 single base substitution G A upstream_gene_variant MELA-AU 22 21349300 21349300 single base substitution C T downstream_gene_variant MELA-AU 22 21349300 21349300 single base substitution C T exon_variant MELA-AU 22 21349300 21349300 single base substitution C T stop_gained Q624* 1870C>T MELA-AU 22 21349300 21349300 single base substitution C T stop_gained Q643* 1927C>T MELA-AU 22 21349300 21349300 single base substitution C T upstream_gene_variant MELA-AU 22 21350210 21350210 single base substitution C T downstream_gene_variant MELA-AU 22 21350210 21350210 single base substitution C T intron_variant MELA-AU 22 21350210 21350210 single base substitution C T upstream_gene_variant MELA-AU 22 21350517 21350517 single base substitution C T downstream_gene_variant MELA-AU 22 21350517 21350517 single base substitution C T exon_variant MELA-AU 22 21350517 21350517 single base substitution C T intron_variant MELA-AU 22 21350897 21350897 single base substitution G A downstream_gene_variant MELA-AU 22 21350897 21350897 single base substitution G A exon_variant MELA-AU 22 21350897 21350897 single base substitution G A intron_variant MELA-AU 22 21351126 21351126 single base substitution C T downstream_gene_variant MELA-AU 22 21351126 21351126 single base substitution C T exon_variant MELA-AU 22 21351126 21351126 single base substitution C T intron_variant MELA-AU 22 21353058 21353058 single base substitution G A 3_prime_UTR_variant MELA-AU 22 21353058 21353058 single base substitution G A downstream_gene_variant MELA-AU 22 21353058 21353058 single base substitution G A exon_variant MELA-AU 22 21353120 21353120 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21353120 21353120 single base substitution C T downstream_gene_variant MELA-AU 22 21353120 21353120 single base substitution C T exon_variant MELA-AU 22 21356862 21356862 single base substitution G A downstream_gene_variant MELA-AU 22 21357760 21357760 single base substitution C T downstream_gene_variant MELA-AU 22 21358041 21358041 single base substitution C T downstream_gene_variant MELA-AU 22 21358156 21358156 single base substitution C T downstream_gene_variant ORCA-IN 22 21347587 21347587 single base substitution C T downstream_gene_variant ORCA-IN 22 21347587 21347587 single base substitution C T intron_variant ORCA-IN 22 21347587 21347587 single base substitution C T upstream_gene_variant ORCA-IN 22 21354276 21354276 single base substitution G T downstream_gene_variant ORCA-IN 22 21354620 21354620 single base substitution G A downstream_gene_variant OV-AU 22 21332965 21332965 single base substitution G C upstream_gene_variant OV-AU 22 21337685 21337685 single base substitution A T intron_variant OV-AU 22 21337685 21337685 single base substitution A T upstream_gene_variant OV-AU 22 21342213 21342213 single base substitution G C downstream_gene_variant OV-AU 22 21342213 21342213 single base substitution G C intron_variant OV-AU 22 21342213 21342213 single base substitution G C upstream_gene_variant OV-AU 22 21342214 21342214 single base substitution G T downstream_gene_variant OV-AU 22 21342214 21342214 single base substitution G T intron_variant OV-AU 22 21342214 21342214 single base substitution G T upstream_gene_variant OV-AU 22 21343478 21343478 single base substitution C G downstream_gene_variant OV-AU 22 21343478 21343478 single base substitution C G intron_variant OV-AU 22 21343478 21343478 single base substitution C G upstream_gene_variant OV-AU 22 21349146 21349146 single base substitution C G downstream_gene_variant OV-AU 22 21349146 21349146 single base substitution C G intron_variant OV-AU 22 21349146 21349146 single base substitution C G upstream_gene_variant OV-AU 22 21354764 21354764 single base substitution C T downstream_gene_variant OV-US 22 21328884 21328884 single base substitution G A upstream_gene_variant OV-US 22 21340180 21340180 single base substitution G T 3_prime_UTR_variant OV-US 22 21340180 21340180 single base substitution G T exon_variant OV-US 22 21340180 21340180 single base substitution G T intron_variant OV-US 22 21340180 21340180 single base substitution G T missense_variant W105L 314G>T OV-US 22 21340180 21340180 single base substitution G T upstream_gene_variant PACA-AU 22 21329452 21329452 single base substitution C G upstream_gene_variant PACA-AU 22 21329702 21329702 single base substitution G A upstream_gene_variant PACA-AU 22 21330354 21330354 single base substitution G T upstream_gene_variant PACA-AU 22 21331232 21331232 single base substitution G T upstream_gene_variant PACA-AU 22 21332569 21332569 single base substitution C G upstream_gene_variant PACA-AU 22 21345264 21345264 deletion of <=200bp G - downstream_gene_variant PACA-AU 22 21345264 21345264 deletion of <=200bp G - intron_variant PACA-AU 22 21345264 21345264 deletion of <=200bp G - splice_region_variant PACA-AU 22 21345264 21345264 deletion of <=200bp G - upstream_gene_variant PACA-AU 22 21347148 21347148 single base substitution C T downstream_gene_variant PACA-AU 22 21347148 21347148 single base substitution C T exon_variant PACA-AU 22 21347148 21347148 single base substitution C T synonymous_variant G386G 1158C>T PACA-AU 22 21347148 21347148 single base substitution C T synonymous_variant G405G 1215C>T PACA-AU 22 21347148 21347148 single base substitution C T upstream_gene_variant PACA-AU 22 21347985 21347985 single base substitution A C downstream_gene_variant PACA-AU 22 21347985 21347985 single base substitution A C exon_variant PACA-AU 22 21347985 21347985 single base substitution A C missense_variant D413A 1238A>C PACA-AU 22 21347985 21347985 single base substitution A C missense_variant D432A 1295A>C PACA-AU 22 21347985 21347985 single base substitution A C upstream_gene_variant PACA-AU 22 21347986 21347986 single base substitution C A downstream_gene_variant PACA-AU 22 21347986 21347986 single base substitution C A exon_variant PACA-AU 22 21347986 21347986 single base substitution C A missense_variant D413E 1239C>A PACA-AU 22 21347986 21347986 single base substitution C A missense_variant D432E 1296C>A PACA-AU 22 21347986 21347986 single base substitution C A upstream_gene_variant PACA-AU 22 21348047 21348047 single base substitution G A downstream_gene_variant PACA-AU 22 21348047 21348047 single base substitution G A splice_region_variant PACA-AU 22 21348047 21348047 single base substitution G A upstream_gene_variant PACA-AU 22 21352618 21352618 single base substitution G T 3_prime_UTR_variant PACA-AU 22 21352618 21352618 single base substitution G T downstream_gene_variant PACA-AU 22 21352618 21352618 single base substitution G T exon_variant PACA-AU 22 21353089 21353089 insertion of <=200bp - GCCAGGTGC 3_prime_UTR_variant PACA-AU 22 21353089 21353089 insertion of <=200bp - GCCAGGTGC downstream_gene_variant PACA-AU 22 21353089 21353089 insertion of <=200bp - GCCAGGTGC exon_variant PACA-AU 22 21355679 21355679 single base substitution C T downstream_gene_variant PACA-AU 22 21357022 21357022 single base substitution G A downstream_gene_variant PACA-CA 22 21332118 21332118 insertion of <=200bp - G upstream_gene_variant PACA-CA 22 21341814 21341814 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 22 21341814 21341814 deletion of <=200bp A - downstream_gene_variant PACA-CA 22 21341814 21341814 deletion of <=200bp A - exon_variant PACA-CA 22 21341814 21341814 deletion of <=200bp A - frameshift_variant P114 PACA-CA 22 21341814 21341814 deletion of <=200bp A - frameshift_variant P95 PACA-CA 22 21341814 21341814 deletion of <=200bp A - intron_variant PACA-CA 22 21341814 21341814 deletion of <=200bp A - upstream_gene_variant PACA-CA 22 21346092 21346092 single base substitution G T downstream_gene_variant PACA-CA 22 21346092 21346092 single base substitution G T exon_variant PACA-CA 22 21346092 21346092 single base substitution G T missense_variant V304F 910G>T PACA-CA 22 21346092 21346092 single base substitution G T missense_variant V323F 967G>T PACA-CA 22 21346092 21346092 single base substitution G T upstream_gene_variant PACA-CA 22 21349274 21349274 single base substitution A C downstream_gene_variant PACA-CA 22 21349274 21349274 single base substitution A C exon_variant PACA-CA 22 21349274 21349274 single base substitution A C missense_variant Q615P 1844A>C PACA-CA 22 21349274 21349274 single base substitution A C missense_variant Q634P 1901A>C PACA-CA 22 21349274 21349274 single base substitution A C upstream_gene_variant PACA-CA 22 21349614 21349614 single base substitution C T downstream_gene_variant PACA-CA 22 21349614 21349614 single base substitution C T exon_variant PACA-CA 22 21349614 21349614 single base substitution C T intron_variant PACA-CA 22 21349614 21349614 single base substitution C T upstream_gene_variant PACA-CA 22 21351625 21351625 single base substitution C T 3_prime_UTR_variant PACA-CA 22 21351625 21351625 single base substitution C T downstream_gene_variant PACA-CA 22 21351625 21351625 single base substitution C T exon_variant PACA-CA 22 21351625 21351625 single base substitution C T synonymous_variant G818G 2454C>T PACA-CA 22 21351625 21351625 single base substitution C T synonymous_variant G837G 2511C>T PACA-CA 22 21351953 21351953 single base substitution C A 3_prime_UTR_variant PACA-CA 22 21351953 21351953 single base substitution C A downstream_gene_variant PACA-CA 22 21351953 21351953 single base substitution C A exon_variant PAEN-IT 22 21350309 21350309 single base substitution C T 3_prime_UTR_variant PAEN-IT 22 21350309 21350309 single base substitution C T downstream_gene_variant PAEN-IT 22 21350309 21350309 single base substitution C T exon_variant PAEN-IT 22 21350309 21350309 single base substitution C T synonymous_variant S690S 2070C>T PAEN-IT 22 21350309 21350309 single base substitution C T synonymous_variant S709S 2127C>T PAEN-IT 22 21350309 21350309 single base substitution C T synonymous_variant S8S 24C>T PBCA-DE 22 21343763 21343763 single base substitution A C downstream_gene_variant PBCA-DE 22 21343763 21343763 single base substitution A C intron_variant PBCA-DE 22 21343763 21343763 single base substitution A C upstream_gene_variant PBCA-DE 22 21344026 21344026 single base substitution C A downstream_gene_variant PBCA-DE 22 21344026 21344026 single base substitution C A intron_variant PBCA-DE 22 21344026 21344026 single base substitution C A upstream_gene_variant PBCA-DE 22 21344042 21344042 insertion of <=200bp - G downstream_gene_variant PBCA-DE 22 21344042 21344042 insertion of <=200bp - G intron_variant PBCA-DE 22 21344042 21344042 insertion of <=200bp - G upstream_gene_variant PBCA-DE 22 21348225 21348225 single base substitution G A downstream_gene_variant PBCA-DE 22 21348225 21348225 single base substitution G A exon_variant PBCA-DE 22 21348225 21348225 single base substitution G A missense_variant V437M 1309G>A PBCA-DE 22 21348225 21348225 single base substitution G A missense_variant V456M 1366G>A PBCA-DE 22 21348225 21348225 single base substitution G A upstream_gene_variant PBCA-DE 22 21351876 21351876 single base substitution C T 3_prime_UTR_variant PBCA-DE 22 21351876 21351876 single base substitution C T downstream_gene_variant PBCA-DE 22 21351876 21351876 single base substitution C T exon_variant PRAD-CA 22 21340708 21340708 single base substitution A T downstream_gene_variant PRAD-CA 22 21340708 21340708 single base substitution A T intron_variant PRAD-CA 22 21340708 21340708 single base substitution A T upstream_gene_variant PRAD-UK 22 21349253 21349253 single base substitution A G downstream_gene_variant PRAD-UK 22 21349253 21349253 single base substitution A G exon_variant PRAD-UK 22 21349253 21349253 single base substitution A G missense_variant E608G 1823A>G PRAD-UK 22 21349253 21349253 single base substitution A G missense_variant E627G 1880A>G PRAD-UK 22 21349253 21349253 single base substitution A G upstream_gene_variant PRAD-UK 22 21351239 21351239 single base substitution T A 3_prime_UTR_variant PRAD-UK 22 21351239 21351239 single base substitution T A downstream_gene_variant PRAD-UK 22 21351239 21351239 single base substitution T A exon_variant PRAD-UK 22 21351239 21351239 single base substitution T A missense_variant V778E 2333T>A PRAD-UK 22 21351239 21351239 single base substitution T A missense_variant V797E 2390T>A PRAD-UK 22 21351239 21351239 single base substitution T A missense_variant V96E 287T>A PRAD-UK 22 21353512 21353512 single base substitution T G downstream_gene_variant PRAD-US 22 21330001 21330001 single base substitution G T upstream_gene_variant PRAD-US 22 21330519 21330519 single base substitution G A upstream_gene_variant PRAD-US 22 21330573 21330573 single base substitution C T upstream_gene_variant PRAD-US 22 21349317 21349317 single base substitution T G downstream_gene_variant PRAD-US 22 21349317 21349317 single base substitution T G exon_variant PRAD-US 22 21349317 21349317 single base substitution T G splice_donor_variant PRAD-US 22 21349317 21349317 single base substitution T G upstream_gene_variant PRAD-US 22 21354950 21354950 single base substitution T C downstream_gene_variant READ-US 22 21348031 21348031 single base substitution C T downstream_gene_variant READ-US 22 21348031 21348031 single base substitution C T exon_variant READ-US 22 21348031 21348031 single base substitution C T synonymous_variant F428F 1284C>T READ-US 22 21348031 21348031 single base substitution C T synonymous_variant F447F 1341C>T READ-US 22 21348031 21348031 single base substitution C T upstream_gene_variant RECA-EU 22 21341758 21341758 single base substitution C G downstream_gene_variant RECA-EU 22 21341758 21341758 single base substitution C G intron_variant RECA-EU 22 21341758 21341758 single base substitution C G upstream_gene_variant RECA-EU 22 21355430 21355430 single base substitution C A downstream_gene_variant RECA-EU 22 21355717 21355717 single base substitution C T downstream_gene_variant SKCA-BR 22 21330685 21330685 single base substitution G A upstream_gene_variant SKCA-BR 22 21331504 21331504 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 22 21331508 21331508 single base substitution A G upstream_gene_variant SKCA-BR 22 21333666 21333666 single base substitution C G upstream_gene_variant SKCA-BR 22 21334841 21334841 single base substitution C T intron_variant SKCA-BR 22 21334841 21334841 single base substitution C T upstream_gene_variant SKCA-BR 22 21337865 21337865 single base substitution T G intron_variant SKCA-BR 22 21337865 21337865 single base substitution T G upstream_gene_variant SKCA-BR 22 21338884 21338884 single base substitution C G intron_variant SKCA-BR 22 21338884 21338884 single base substitution C G upstream_gene_variant SKCA-BR 22 21338899 21338899 insertion of <=200bp - AGG intron_variant SKCA-BR 22 21338899 21338899 insertion of <=200bp - AGG upstream_gene_variant SKCA-BR 22 21338907 21338907 single base substitution G C intron_variant SKCA-BR 22 21338907 21338907 single base substitution G C upstream_gene_variant SKCA-BR 22 21340116 21340116 single base substitution C T intron_variant SKCA-BR 22 21340116 21340116 single base substitution C T upstream_gene_variant SKCA-BR 22 21340220 21340220 single base substitution C T downstream_gene_variant SKCA-BR 22 21340220 21340220 single base substitution C T intron_variant SKCA-BR 22 21340220 21340220 single base substitution C T upstream_gene_variant SKCA-BR 22 21340665 21340665 insertion of <=200bp - TGATA downstream_gene_variant SKCA-BR 22 21340665 21340665 insertion of <=200bp - TGATAGATA downstream_gene_variant SKCA-BR 22 21340665 21340665 insertion of <=200bp - TGATAGATA intron_variant SKCA-BR 22 21340665 21340665 insertion of <=200bp - TGATAGATA upstream_gene_variant SKCA-BR 22 21340665 21340665 insertion of <=200bp - TGATA intron_variant SKCA-BR 22 21340665 21340665 insertion of <=200bp - TGATA upstream_gene_variant SKCA-BR 22 21342032 21342032 single base substitution C T downstream_gene_variant SKCA-BR 22 21342032 21342032 single base substitution C T intron_variant SKCA-BR 22 21342032 21342032 single base substitution C T upstream_gene_variant SKCA-BR 22 21342446 21342446 single base substitution C T downstream_gene_variant SKCA-BR 22 21342446 21342446 single base substitution C T intron_variant SKCA-BR 22 21342446 21342446 single base substitution C T upstream_gene_variant SKCA-BR 22 21342805 21342805 single base substitution G A downstream_gene_variant SKCA-BR 22 21342805 21342805 single base substitution G A intron_variant SKCA-BR 22 21342805 21342805 single base substitution G A upstream_gene_variant SKCA-BR 22 21342806 21342806 single base substitution G A downstream_gene_variant SKCA-BR 22 21342806 21342806 single base substitution G A intron_variant SKCA-BR 22 21342806 21342806 single base substitution G A upstream_gene_variant SKCA-BR 22 21343982 21344019 deletion of <=200bp TGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC - downstream_gene_variant SKCA-BR 22 21343982 21344019 deletion of <=200bp TGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC - intron_variant SKCA-BR 22 21343982 21344019 deletion of <=200bp TGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC - upstream_gene_variant SKCA-BR 22 21344521 21344521 single base substitution C T downstream_gene_variant SKCA-BR 22 21344521 21344521 single base substitution C T intron_variant SKCA-BR 22 21344521 21344521 single base substitution C T upstream_gene_variant SKCA-BR 22 21348315 21348315 single base substitution T G downstream_gene_variant SKCA-BR 22 21348315 21348315 single base substitution T G splice_region_variant SKCA-BR 22 21348315 21348315 single base substitution T G upstream_gene_variant SKCA-BR 22 21354634 21354634 single base substitution T G downstream_gene_variant SKCA-BR 22 21355955 21355955 single base substitution T C downstream_gene_variant SKCM-US 22 21328842 21328842 single base substitution T C upstream_gene_variant SKCM-US 22 21328912 21328912 single base substitution T C upstream_gene_variant SKCM-US 22 21329027 21329027 single base substitution G A upstream_gene_variant SKCM-US 22 21329051 21329051 single base substitution C T upstream_gene_variant SKCM-US 22 21330536 21330536 single base substitution C T upstream_gene_variant SKCM-US 22 21330979 21330979 single base substitution C T upstream_gene_variant SKCM-US 22 21331325 21331325 single base substitution A T upstream_gene_variant SKCM-US 22 21332267 21332267 single base substitution C T upstream_gene_variant SKCM-US 22 21340161 21340161 single base substitution G A exon_variant SKCM-US 22 21340161 21340161 single base substitution G A intron_variant SKCM-US 22 21340161 21340161 single base substitution G A missense_variant D99N 295G>A SKCM-US 22 21340161 21340161 single base substitution G A upstream_gene_variant SKCM-US 22 21340172 21340172 single base substitution C T 3_prime_UTR_variant SKCM-US 22 21340172 21340172 single base substitution C T exon_variant SKCM-US 22 21340172 21340172 single base substitution C T intron_variant SKCM-US 22 21340172 21340172 single base substitution C T synonymous_variant D102D 306C>T SKCM-US 22 21340172 21340172 single base substitution C T upstream_gene_variant SKCM-US 22 21343934 21343934 single base substitution T G 3_prime_UTR_variant SKCM-US 22 21343934 21343934 single base substitution T G downstream_gene_variant SKCM-US 22 21343934 21343934 single base substitution T G exon_variant SKCM-US 22 21343934 21343934 single base substitution T G missense_variant I186S 557T>G SKCM-US 22 21343934 21343934 single base substitution T G missense_variant I205S 614T>G SKCM-US 22 21343934 21343934 single base substitution T G upstream_gene_variant SKCM-US 22 21344742 21344742 single base substitution T A 3_prime_UTR_variant SKCM-US 22 21344742 21344742 single base substitution T A downstream_gene_variant SKCM-US 22 21344742 21344742 single base substitution T A exon_variant SKCM-US 22 21344742 21344742 single base substitution T A missense_variant M221K 662T>A SKCM-US 22 21344742 21344742 single base substitution T A missense_variant M240K 719T>A SKCM-US 22 21344742 21344742 single base substitution T A upstream_gene_variant SKCM-US 22 21344752 21344752 single base substitution C A 3_prime_UTR_variant SKCM-US 22 21344752 21344752 single base substitution C A downstream_gene_variant SKCM-US 22 21344752 21344752 single base substitution C A exon_variant SKCM-US 22 21344752 21344752 single base substitution C A missense_variant F224L 672C>A SKCM-US 22 21344752 21344752 single base substitution C A missense_variant F243L 729C>A SKCM-US 22 21344752 21344752 single base substitution C A upstream_gene_variant SKCM-US 22 21344765 21344765 single base substitution G A 3_prime_UTR_variant SKCM-US 22 21344765 21344765 single base substitution G A downstream_gene_variant SKCM-US 22 21344765 21344765 single base substitution G A exon_variant SKCM-US 22 21344765 21344765 single base substitution G A missense_variant G229R 685G>A SKCM-US 22 21344765 21344765 single base substitution G A missense_variant G248R 742G>A SKCM-US 22 21344765 21344765 single base substitution G A upstream_gene_variant SKCM-US 22 21344792 21344792 single base substitution C T 3_prime_UTR_variant SKCM-US 22 21344792 21344792 single base substitution C T downstream_gene_variant SKCM-US 22 21344792 21344792 single base substitution C T exon_variant SKCM-US 22 21344792 21344792 single base substitution C T stop_gained Q238* 712C>T SKCM-US 22 21344792 21344792 single base substitution C T stop_gained Q257* 769C>T SKCM-US 22 21344792 21344792 single base substitution C T upstream_gene_variant SKCM-US 22 21346528 21346528 single base substitution G A downstream_gene_variant SKCM-US 22 21346528 21346528 single base substitution G A exon_variant SKCM-US 22 21346528 21346528 single base substitution G A missense_variant R321Q 962G>A SKCM-US 22 21346528 21346528 single base substitution G A missense_variant R340Q 1019G>A SKCM-US 22 21346528 21346528 single base substitution G A upstream_gene_variant SKCM-US 22 21348031 21348031 single base substitution C T downstream_gene_variant SKCM-US 22 21348031 21348031 single base substitution C T exon_variant SKCM-US 22 21348031 21348031 single base substitution C T synonymous_variant F428F 1284C>T SKCM-US 22 21348031 21348031 single base substitution C T synonymous_variant F447F 1341C>T SKCM-US 22 21348031 21348031 single base substitution C T upstream_gene_variant SKCM-US 22 21348405 21348405 single base substitution G A downstream_gene_variant SKCM-US 22 21348405 21348405 single base substitution G A exon_variant SKCM-US 22 21348405 21348405 single base substitution G A missense_variant E469K 1405G>A SKCM-US 22 21348405 21348405 single base substitution G A missense_variant E488K 1462G>A SKCM-US 22 21348405 21348405 single base substitution G A upstream_gene_variant SKCM-US 22 21348460 21348460 single base substitution C T downstream_gene_variant SKCM-US 22 21348460 21348460 single base substitution C T exon_variant SKCM-US 22 21348460 21348460 single base substitution C T missense_variant P487L 1460C>T SKCM-US 22 21348460 21348460 single base substitution C T missense_variant P506L 1517C>T SKCM-US 22 21348460 21348460 single base substitution C T upstream_gene_variant SKCM-US 22 21348482 21348482 single base substitution C T downstream_gene_variant SKCM-US 22 21348482 21348482 single base substitution C T exon_variant SKCM-US 22 21348482 21348482 single base substitution C T synonymous_variant I494I 1482C>T SKCM-US 22 21348482 21348482 single base substitution C T synonymous_variant I513I 1539C>T SKCM-US 22 21348482 21348482 single base substitution C T upstream_gene_variant SKCM-US 22 21348893 21348893 single base substitution A T downstream_gene_variant SKCM-US 22 21348893 21348893 single base substitution A T exon_variant SKCM-US 22 21348893 21348893 single base substitution A T intron_variant SKCM-US 22 21348893 21348893 single base substitution A T synonymous_variant A535A 1605A>T SKCM-US 22 21348893 21348893 single base substitution A T synonymous_variant A554A 1662A>T SKCM-US 22 21348893 21348893 single base substitution A T upstream_gene_variant SKCM-US 22 21350144 21350144 single base substitution C T 3_prime_UTR_variant SKCM-US 22 21350144 21350144 single base substitution C T downstream_gene_variant SKCM-US 22 21350144 21350144 single base substitution C T exon_variant SKCM-US 22 21350144 21350144 single base substitution C T synonymous_variant I665I 1995C>T SKCM-US 22 21350144 21350144 single base substitution C T synonymous_variant I684I 2052C>T SKCM-US 22 21350144 21350144 single base substitution C T upstream_gene_variant SKCM-US 22 21350394 21350394 single base substitution G A 3_prime_UTR_variant SKCM-US 22 21350394 21350394 single base substitution G A downstream_gene_variant SKCM-US 22 21350394 21350394 single base substitution G A exon_variant SKCM-US 22 21350394 21350394 single base substitution G A missense_variant D37N 109G>A SKCM-US 22 21350394 21350394 single base substitution G A missense_variant D719N 2155G>A SKCM-US 22 21350394 21350394 single base substitution G A missense_variant D738N 2212G>A STAD-US 22 21329105 21329105 single base substitution G T upstream_gene_variant STAD-US 22 21330537 21330537 single base substitution G A upstream_gene_variant STAD-US 22 21331366 21331366 single base substitution G A upstream_gene_variant STAD-US 22 21340148 21340150 deletion of <=200bp CCT - exon_variant STAD-US 22 21340148 21340150 deletion of <=200bp CCT - inframe_deletion DL94D STAD-US 22 21340148 21340150 deletion of <=200bp CCT - intron_variant STAD-US 22 21340148 21340150 deletion of <=200bp CCT - upstream_gene_variant STAD-US 22 21340177 21340177 single base substitution C G 3_prime_UTR_variant STAD-US 22 21340177 21340177 single base substitution C G exon_variant STAD-US 22 21340177 21340177 single base substitution C G intron_variant STAD-US 22 21340177 21340177 single base substitution C G missense_variant S104C 311C>G STAD-US 22 21340177 21340177 single base substitution C G upstream_gene_variant STAD-US 22 21342386 21342386 single base substitution C T 3_prime_UTR_variant STAD-US 22 21342386 21342386 single base substitution C T downstream_gene_variant STAD-US 22 21342386 21342386 single base substitution C T exon_variant STAD-US 22 21342386 21342386 single base substitution C T missense_variant T144M 431C>T STAD-US 22 21342386 21342386 single base substitution C T missense_variant T163M 488C>T STAD-US 22 21342386 21342386 single base substitution C T upstream_gene_variant STAD-US 22 21343941 21343941 single base substitution C T 3_prime_UTR_variant STAD-US 22 21343941 21343941 single base substitution C T downstream_gene_variant STAD-US 22 21343941 21343941 single base substitution C T exon_variant STAD-US 22 21343941 21343941 single base substitution C T synonymous_variant L188L 564C>T STAD-US 22 21343941 21343941 single base substitution C T synonymous_variant L207L 621C>T STAD-US 22 21343941 21343941 single base substitution C T upstream_gene_variant STAD-US 22 21345966 21345966 single base substitution C A 3_prime_UTR_variant STAD-US 22 21345966 21345966 single base substitution C A downstream_gene_variant STAD-US 22 21345966 21345966 single base substitution C A exon_variant STAD-US 22 21345966 21345966 single base substitution C A missense_variant P262T 784C>A STAD-US 22 21345966 21345966 single base substitution C A missense_variant P281T 841C>A STAD-US 22 21345966 21345966 single base substitution C A upstream_gene_variant STAD-US 22 21346541 21346541 single base substitution C T downstream_gene_variant STAD-US 22 21346541 21346541 single base substitution C T exon_variant STAD-US 22 21346541 21346541 single base substitution C T synonymous_variant S325S 975C>T STAD-US 22 21346541 21346541 single base substitution C T synonymous_variant S344S 1032C>T STAD-US 22 21346541 21346541 single base substitution C T upstream_gene_variant STAD-US 22 21347143 21347143 single base substitution G A downstream_gene_variant STAD-US 22 21347143 21347143 single base substitution G A exon_variant STAD-US 22 21347143 21347143 single base substitution G A missense_variant G385R 1153G>A STAD-US 22 21347143 21347143 single base substitution G A missense_variant G404R 1210G>A STAD-US 22 21347143 21347143 single base substitution G A upstream_gene_variant STAD-US 22 21348009 21348009 single base substitution G A downstream_gene_variant STAD-US 22 21348009 21348009 single base substitution G A exon_variant STAD-US 22 21348009 21348009 single base substitution G A missense_variant R421H 1262G>A STAD-US 22 21348009 21348009 single base substitution G A missense_variant R440H 1319G>A STAD-US 22 21348009 21348009 single base substitution G A upstream_gene_variant STAD-US 22 21348040 21348040 single base substitution T C downstream_gene_variant STAD-US 22 21348040 21348040 single base substitution T C exon_variant STAD-US 22 21348040 21348040 single base substitution T C synonymous_variant G431G 1293T>C STAD-US 22 21348040 21348040 single base substitution T C synonymous_variant G450G 1350T>C STAD-US 22 21348040 21348040 single base substitution T C upstream_gene_variant STAD-US 22 21348214 21348216 deletion of <=200bp AGG - downstream_gene_variant STAD-US 22 21348214 21348216 deletion of <=200bp AGG - splice_region_variant STAD-US 22 21348214 21348216 deletion of <=200bp AGG - upstream_gene_variant STAD-US 22 21348936 21348936 single base substitution T C downstream_gene_variant STAD-US 22 21348936 21348936 single base substitution T C exon_variant STAD-US 22 21348936 21348936 single base substitution T C intron_variant STAD-US 22 21348936 21348936 single base substitution T C missense_variant Y550H 1648T>C STAD-US 22 21348936 21348936 single base substitution T C missense_variant Y569H 1705T>C STAD-US 22 21348936 21348936 single base substitution T C upstream_gene_variant STAD-US 22 21349285 21349285 single base substitution C T downstream_gene_variant STAD-US 22 21349285 21349285 single base substitution C T exon_variant STAD-US 22 21349285 21349285 single base substitution C T missense_variant R619C 1855C>T STAD-US 22 21349285 21349285 single base substitution C T missense_variant R638C 1912C>T STAD-US 22 21349285 21349285 single base substitution C T upstream_gene_variant STAD-US 22 21350083 21350083 single base substitution C T 3_prime_UTR_variant STAD-US 22 21350083 21350083 single base substitution C T downstream_gene_variant STAD-US 22 21350083 21350083 single base substitution C T exon_variant STAD-US 22 21350083 21350083 single base substitution C T missense_variant A645V 1934C>T STAD-US 22 21350083 21350083 single base substitution C T missense_variant A664V 1991C>T STAD-US 22 21350083 21350083 single base substitution C T upstream_gene_variant STAD-US 22 21350351 21350351 single base substitution G A 3_prime_UTR_variant STAD-US 22 21350351 21350351 single base substitution G A downstream_gene_variant STAD-US 22 21350351 21350351 single base substitution G A exon_variant STAD-US 22 21350351 21350351 single base substitution G A missense_variant M22I 66G>A STAD-US 22 21350351 21350351 single base substitution G A missense_variant M704I 2112G>A STAD-US 22 21350351 21350351 single base substitution G A missense_variant M723I 2169G>A STAD-US 22 21351217 21351217 single base substitution C T 3_prime_UTR_variant STAD-US 22 21351217 21351217 single base substitution C T downstream_gene_variant STAD-US 22 21351217 21351217 single base substitution C T exon_variant STAD-US 22 21351217 21351217 single base substitution C T missense_variant R771W 2311C>T STAD-US 22 21351217 21351217 single base substitution C T missense_variant R790W 2368C>T STAD-US 22 21351217 21351217 single base substitution C T missense_variant R89W 265C>T STAD-US 22 21354389 21354389 single base substitution G A downstream_gene_variant THCA-SA 22 21335606 21335606 single base substitution C T intron_variant THCA-SA 22 21335606 21335606 single base substitution C T upstream_gene_variant THCA-SA 22 21335611 21335611 single base substitution A G intron_variant THCA-SA 22 21335611 21335611 single base substitution A G upstream_gene_variant THCA-SA 22 21337325 21337325 single base substitution G A exon_variant THCA-SA 22 21337325 21337325 single base substitution G A synonymous_variant K70K 210G>A THCA-SA 22 21337325 21337325 single base substitution G A upstream_gene_variant THCA-SA 22 21354346 21354346 insertion of <=200bp - G downstream_gene_variant THCA-SA 22 21356566 21356566 single base substitution A G downstream_gene_variant THCA-SA 22 21356824 21356824 single base substitution G A downstream_gene_variant THCA-SA 22 21356925 21356925 single base substitution T A downstream_gene_variant THCA-US 22 21340177 21340177 single base substitution C G 3_prime_UTR_variant THCA-US 22 21340177 21340177 single base substitution C G exon_variant THCA-US 22 21340177 21340177 single base substitution C G intron_variant THCA-US 22 21340177 21340177 single base substitution C G missense_variant S104C 311C>G THCA-US 22 21340177 21340177 single base substitution C G upstream_gene_variant THCA-US 22 21356155 21356155 single base substitution G A downstream_gene_variant UCEC-US 22 21329051 21329051 single base substitution C T upstream_gene_variant UCEC-US 22 21329994 21329994 single base substitution A T upstream_gene_variant UCEC-US 22 21330772 21330772 single base substitution C T upstream_gene_variant UCEC-US 22 21331353 21331353 single base substitution C T upstream_gene_variant UCEC-US 22 21332006 21332006 single base substitution G T upstream_gene_variant UCEC-US 22 21332216 21332216 single base substitution G A upstream_gene_variant UCEC-US 22 21332253 21332253 single base substitution G A upstream_gene_variant UCEC-US 22 21337317 21337317 single base substitution C T missense_variant R68C 202C>T UCEC-US 22 21337317 21337317 single base substitution C T splice_region_variant UCEC-US 22 21337317 21337317 single base substitution C T upstream_gene_variant UCEC-US 22 21340155 21340155 single base substitution C T exon_variant UCEC-US 22 21340155 21340155 single base substitution C T intron_variant UCEC-US 22 21340155 21340155 single base substitution C T missense_variant R97W 289C>T UCEC-US 22 21340155 21340155 single base substitution C T upstream_gene_variant UCEC-US 22 21340161 21340161 single base substitution G A exon_variant UCEC-US 22 21340161 21340161 single base substitution G A intron_variant UCEC-US 22 21340161 21340161 single base substitution G A missense_variant D99N 295G>A UCEC-US 22 21340161 21340161 single base substitution G A upstream_gene_variant UCEC-US 22 21341853 21341853 single base substitution G A 3_prime_UTR_variant UCEC-US 22 21341853 21341853 single base substitution G A downstream_gene_variant UCEC-US 22 21341853 21341853 single base substitution G A exon_variant UCEC-US 22 21341853 21341853 single base substitution G A intron_variant UCEC-US 22 21341853 21341853 single base substitution G A synonymous_variant G108G 324G>A UCEC-US 22 21341853 21341853 single base substitution G A synonymous_variant G127G 381G>A UCEC-US 22 21341853 21341853 single base substitution G A upstream_gene_variant UCEC-US 22 21343948 21343948 single base substitution C T 3_prime_UTR_variant UCEC-US 22 21343948 21343948 single base substitution C T downstream_gene_variant UCEC-US 22 21343948 21343948 single base substitution C T exon_variant UCEC-US 22 21343948 21343948 single base substitution C T stop_gained R191* 571C>T UCEC-US 22 21343948 21343948 single base substitution C T stop_gained R210* 628C>T UCEC-US 22 21343948 21343948 single base substitution C T upstream_gene_variant UCEC-US 22 21345967 21345967 single base substitution C T 3_prime_UTR_variant UCEC-US 22 21345967 21345967 single base substitution C T downstream_gene_variant UCEC-US 22 21345967 21345967 single base substitution C T exon_variant UCEC-US 22 21345967 21345967 single base substitution C T missense_variant P262L 785C>T UCEC-US 22 21345967 21345967 single base substitution C T missense_variant P281L 842C>T UCEC-US 22 21345967 21345967 single base substitution C T upstream_gene_variant UCEC-US 22 21345975 21345975 single base substitution C T downstream_gene_variant UCEC-US 22 21345975 21345975 single base substitution C T exon_variant UCEC-US 22 21345975 21345975 single base substitution C T missense_variant R265C 793C>T UCEC-US 22 21345975 21345975 single base substitution C T missense_variant R284C 850C>T UCEC-US 22 21345975 21345975 single base substitution C T upstream_gene_variant UCEC-US 22 21346005 21346005 single base substitution C T downstream_gene_variant UCEC-US 22 21346005 21346005 single base substitution C T exon_variant UCEC-US 22 21346005 21346005 single base substitution C T missense_variant R275C 823C>T UCEC-US 22 21346005 21346005 single base substitution C T missense_variant R294C 880C>T UCEC-US 22 21346005 21346005 single base substitution C T upstream_gene_variant UCEC-US 22 21346043 21346043 single base substitution G A downstream_gene_variant UCEC-US 22 21346043 21346043 single base substitution G A exon_variant UCEC-US 22 21346043 21346043 single base substitution G A synonymous_variant T287T 861G>A UCEC-US 22 21346043 21346043 single base substitution G A synonymous_variant T306T 918G>A UCEC-US 22 21346043 21346043 single base substitution G A upstream_gene_variant UCEC-US 22 21346097 21346097 single base substitution C T downstream_gene_variant UCEC-US 22 21346097 21346097 single base substitution C T exon_variant UCEC-US 22 21346097 21346097 single base substitution C T synonymous_variant V305V 915C>T UCEC-US 22 21346097 21346097 single base substitution C T synonymous_variant V324V 972C>T UCEC-US 22 21346097 21346097 single base substitution C T upstream_gene_variant UCEC-US 22 21346572 21346572 single base substitution C T downstream_gene_variant UCEC-US 22 21346572 21346572 single base substitution C T exon_variant UCEC-US 22 21346572 21346572 single base substitution C T missense_variant R336W 1006C>T UCEC-US 22 21346572 21346572 single base substitution C T missense_variant R355W 1063C>T UCEC-US 22 21346572 21346572 single base substitution C T upstream_gene_variant UCEC-US 22 21347150 21347150 single base substitution C T downstream_gene_variant UCEC-US 22 21347150 21347150 single base substitution C T exon_variant UCEC-US 22 21347150 21347150 single base substitution C T missense_variant T387M 1160C>T UCEC-US 22 21347150 21347150 single base substitution C T missense_variant T406M 1217C>T UCEC-US 22 21347150 21347150 single base substitution C T upstream_gene_variant UCEC-US 22 21347168 21347168 single base substitution G A downstream_gene_variant UCEC-US 22 21347168 21347168 single base substitution G A exon_variant UCEC-US 22 21347168 21347168 single base substitution G A missense_variant R393H 1178G>A UCEC-US 22 21347168 21347168 single base substitution G A missense_variant R412H 1235G>A UCEC-US 22 21347168 21347168 single base substitution G A upstream_gene_variant UCEC-US 22 21348942 21348942 single base substitution G A downstream_gene_variant UCEC-US 22 21348942 21348942 single base substitution G A exon_variant UCEC-US 22 21348942 21348942 single base substitution G A intron_variant UCEC-US 22 21348942 21348942 single base substitution G A missense_variant E552K 1654G>A UCEC-US 22 21348942 21348942 single base substitution G A missense_variant E571K 1711G>A UCEC-US 22 21348942 21348942 single base substitution G A upstream_gene_variant UCEC-US 22 21350071 21350071 single base substitution A G 3_prime_UTR_variant UCEC-US 22 21350071 21350071 single base substitution A G downstream_gene_variant UCEC-US 22 21350071 21350071 single base substitution A G exon_variant UCEC-US 22 21350071 21350071 single base substitution A G missense_variant E641G 1922A>G UCEC-US 22 21350071 21350071 single base substitution A G missense_variant E660G 1979A>G UCEC-US 22 21350071 21350071 single base substitution A G upstream_gene_variant UCEC-US 22 21350272 21350272 single base substitution G A 3_prime_UTR_variant UCEC-US 22 21350272 21350272 single base substitution G A downstream_gene_variant UCEC-US 22 21350272 21350272 single base substitution G A exon_variant UCEC-US 22 21350272 21350272 single base substitution G A missense_variant R678Q 2033G>A UCEC-US 22 21350272 21350272 single base substitution G A missense_variant R697Q 2090G>A UCEC-US 22 21350272 21350272 single base substitution G A upstream_gene_variant UCEC-US 22 21350282 21350282 single base substitution G A 3_prime_UTR_variant UCEC-US 22 21350282 21350282 single base substitution G A downstream_gene_variant UCEC-US 22 21350282 21350282 single base substitution G A exon_variant UCEC-US 22 21350282 21350282 single base substitution G A missense_variant M681I 2043G>A UCEC-US 22 21350282 21350282 single base substitution G A missense_variant M700I 2100G>A UCEC-US 22 21350282 21350282 single base substitution G A upstream_gene_variant UCEC-US 22 21351071 21351071 single base substitution C T 3_prime_UTR_variant UCEC-US 22 21351071 21351071 single base substitution C T downstream_gene_variant UCEC-US 22 21351071 21351071 single base substitution C T exon_variant UCEC-US 22 21351071 21351071 single base substitution C T missense_variant T68M 203C>T UCEC-US 22 21351071 21351071 single base substitution C T missense_variant T750M 2249C>T UCEC-US 22 21351071 21351071 single base substitution C T missense_variant T769M 2306C>T UCEC-US 22 21351542 21351542 single base substitution C T 3_prime_UTR_variant UCEC-US 22 21351542 21351542 single base substitution C T downstream_gene_variant UCEC-US 22 21351542 21351542 single base substitution C T exon_variant UCEC-US 22 21351542 21351542 single base substitution C T missense_variant R791W 2371C>T UCEC-US 22 21351542 21351542 single base substitution C T missense_variant R810W 2428C>T UCEC-US 22 21354544 21354544 single base substitution C A downstream_gene_variant UCEC-US 22 21355015 21355015 single base substitution G A downstream_gene_variant UCEC-US 22 21357443 21357443 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-A7-A26J-01 COSM3842242 c.1175C>T p.A392V Substitution - Missense 22:20992819-20992819 + pfg008T COSM1641505 c.263G>T p.G88V Substitution - Missense 22:20983089-20983089 + 5 COSM5732268 c.2471T>A p.L824Q Substitution - Missense 22:20997296-20997296 + TCGA-B5-A11Y-01 COSM48515 c.842C>T p.P281L Substitution - Missense 22:20991678-20991678 + BD124T COSM5494177 c.848G>A p.R283Q Substitution - Missense 22:20991684-20991684 + YUGAFFE COSM1714169 c.2212G>A p.D738N Substitution - Missense 22:20996105-20996105 + TCGA-EE-A20C-06 COSM1032412 c.295G>A p.D99N Substitution - Missense 22:20985872-20985872 + SCC-25 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + YUOTHO COSM5291905 c.677C>T p.P226L Substitution - Missense 22:20990411-20990411 + TCGA-HU-A4GQ-01 COSM4102838 c.1912C>T p.R638C Substitution - Missense 22:20994996-20994996 + TCGA-B6-A0RG-01 COSM444742 c.2227delT p.F743fs*24 Deletion - Frameshift 22:20996703-20996703 + TCGA-FS-A4F0-06 COSM3552374 c.719T>A p.M240K Substitution - Missense 22:20990453-20990453 + TCGA-AC-A5XS-01 COSM4391025 c.1852G>A p.E618K Substitution - Missense 22:20994936-20994936 + 2290930 COSM4440645 c.671_672insC p.S227fs*33 Insertion - Frameshift 22:20990405-20990406 + Gp5D COSM1032415 c.850C>T p.R284C Substitution - Missense 22:20991686-20991686 + 345973 COSM3308551 c.351C>T p.P117P Substitution - coding silent 22:20987534-20987534 + 587234 COSM240564 c.2023G>A p.G675R Substitution - Missense 22:20995826-20995826 + TCGA-BH-A0BL-01 COSM3842244 c.2376C>A p.C792* Substitution - Nonsense 22:20996936-20996936 + WSU-HN13 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + PCSI_0090_Pa_P COSM3785501 c.1901A>C p.Q634P Substitution - Missense 22:20994985-20994985 + TCGA-06-5413 COSM298114 c.742G>A p.G248R Substitution - Missense 22:20990476-20990476 + SC_9096 COSM5550467 c.2232G>A p.A744A Substitution - coding silent 22:20996708-20996708 + TCGA-BR-8078-01 COSM4102833 c.1032C>T p.S344S Substitution - coding silent 22:20992252-20992252 + BN42T COSM1616267 c.858G>A p.G286G Substitution - coding silent 22:20991694-20991694 + LP6005334-DNA_A04 COSM5032724 c.994-6C>G p.? Unknown 22:20992208-20992208 + HCT15 COSM1682129 c.2059G>A p.A687T Substitution - Missense 22:20995862-20995862 + HCC103T COSM3308571 c.1365C>T p.C455C Substitution - coding silent 22:20993935-20993935 + LS174T COSM3308571 c.1365C>T p.C455C Substitution - coding silent 22:20993935-20993935 + ccRCC-27 COSM1665940 c.1149+1G>A p.? Unknown 22:20992370-20992370 + sysucc-1317T COSM1032417 c.918G>A p.T306T Substitution - coding silent 22:20991754-20991754 + CSCC-54-T COSM3308551 c.351C>T p.P117P Substitution - coding silent 22:20987534-20987534 + TCGA-04-1644-01 COSM48515 c.842C>T p.P281L Substitution - Missense 22:20991678-20991678 + I2L-P19Ta-Tumor-Organoid COSM5366419 c.1425G>A p.T475T Substitution - coding silent 22:20993995-20993995 + TCGA-B5-A11E-01 COSM1032426 c.2100G>A p.M700I Substitution - Missense 22:20995993-20995993 + TCGA-D9-A6EC-06 COSM4404394 c.1662A>T p.A554A Substitution - coding silent 22:20994604-20994604 + BHY COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + TCGA-C5-A7UH-01 COSM4856724 c.1074C>G p.F358L Substitution - Missense 22:20992294-20992294 + WSU-HN30 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + YUMER COSM1714170 c.2298G>A p.M766I Substitution - Missense 22:20996774-20996774 + T45 COSM1177640 c.2273C>T p.A758V Substitution - Missense 22:20996749-20996749 + TCGA-GC-A3RC-01 COSM3800052 c.2264G>T p.R755L Substitution - Missense 22:20996740-20996740 + TCGA-AA-3821-01 COSM294536 c.1097G>A p.G366D Substitution - Missense 22:20992317-20992317 + TARGET-30-PARHUX COSM1286039 c.1439G>T p.R480M Substitution - Missense 22:20994009-20994009 + TCGA-A5-A0GH-01 COSM1032423 c.1720G>A p.V574M Substitution - Missense 22:20994662-20994662 + LS180 COSM3308571 c.1365C>T p.C455C Substitution - coding silent 22:20993935-20993935 + TCGA-B5-A0JR-01 COSM1032424 c.1979A>G p.E660G Substitution - Missense 22:20995782-20995782 + MO_1263 COSM3308578 c.1698C>T p.C566C Substitution - coding silent 22:20994640-20994640 + TCGA-BR-4361-01 COSM4102837 c.1705T>C p.Y569H Substitution - Missense 22:20994647-20994647 + TCGA-D1-A17H-01 COSM1032425 c.2090G>A p.R697Q Substitution - Missense 22:20995983-20995983 + TCGA-CK-5916-01 COSM3693900 c.1889G>A p.R630Q Substitution - Missense 22:20994973-20994973 + ESCC_165 COSM5648516 c.830C>T p.S277F Substitution - Missense 22:20991666-20991666 + TCGA-AM-5821-01 COSM3759057 c.210G>A p.K70K Substitution - coding silent 22:20983036-20983036 + CSCC-29-T COSM4476364 c.2062C>T p.R688C Substitution - Missense 22:20995865-20995865 + TCGA-06-2562-01 COSM2152827 c.313T>C p.W105R Substitution - Missense 22:20985890-20985890 + TCGA-19-2631 COSM2156442 c.1310G>A p.W437* Substitution - Nonsense 22:20993711-20993711 + LAU63 COSM234942 c.1452G>A p.K484K Substitution - coding silent 22:20994106-20994106 + TCGA-EB-A41A-01 COSM3552376 c.769C>T p.Q257* Substitution - Nonsense 22:20990503-20990503 + TCGA-B5-A0JY-01 COSM1032411 c.289C>T p.R97W Substitution - Missense 22:20985866-20985866 + PDA_074 COSM5002001 c.2152C>A p.Q718K Substitution - Missense 22:20996045-20996045 + SW48 COSM3308584 c.1911T>C p.P637P Substitution - coding silent 22:20994995-20994995 + TCGA-A5-A0VP-01 COSM1032417 c.918G>A p.T306T Substitution - coding silent 22:20991754-20991754 + TCGA-19-1789 COSM2156005 c.592A>G p.R198G Substitution - Missense 22:20988871-20988871 + CSCC-38-T COSM4465282 c.1375C>T p.H459Y Substitution - Missense 22:20993945-20993945 + TCGA-32-1977-01 COSM3405529 c.583G>A p.G195S Substitution - Missense 22:20988862-20988862 + TCGA-DA-A3F8-06 COSM1714169 c.2212G>A p.D738N Substitution - Missense 22:20996105-20996105 + ESCC_BICR_044T COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + 2492729 COSM1665940 c.1149+1G>A p.? Unknown 22:20992370-20992370 + T17 COSM3759057 c.210G>A p.K70K Substitution - coding silent 22:20983036-20983036 + TCGA-A5-A0RA-01 COSM1032410 c.202C>T p.R68C Substitution - Missense 22:20983028-20983028 + UM-SCC-11B COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + CG-3346 COSM2157586 c.863C>T p.T288I Substitution - Missense 22:20991699-20991699 + TCGA-BR-4292-01 COSM4102840 c.2368C>T p.R790W Substitution - Missense 22:20996928-20996928 + CHC892T COSM1616268 c.1174G>A p.A392T Substitution - Missense 22:20992818-20992818 + CHC892T COSM1616268 c.1174G>A p.A392T Substitution - Missense 22:20992818-20992818 + BK0045 COSM4187748 c.248T>C p.F83S Substitution - Missense 22:20983074-20983074 + TCGA-FS-A4FC-06 COSM3552378 c.1462G>A p.E488K Substitution - Missense 22:20994116-20994116 + TCGA-FS-A4F9-06 COSM3552380 c.2052C>T p.I684I Substitution - coding silent 22:20995855-20995855 + TCGA-HU-A4G8-01 COSM4102832 c.841C>A p.P281T Substitution - Missense 22:20991677-20991677 + CT-TC COSM4989680 c.1492G>A p.G498S Substitution - Missense 22:20994146-20994146 + TCGA-66-2757-01 COSM725520 c.862A>G p.T288A Substitution - Missense 22:20991698-20991698 + HCT8 COSM1682128 c.763C>A p.L255I Substitution - Missense 22:20990497-20990497 + TCGA-EE-A2GO-06 COSM3552373 c.306C>T p.D102D Substitution - coding silent 22:20985883-20985883 + TCGA-BG-A0M8-01 COSM1032428 c.2428C>T p.R810W Substitution - Missense 22:20997253-20997253 + SCC-9 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + TCGA-CG-5721-01 COSM4102839 c.2169G>A p.M723I Substitution - Missense 22:20996062-20996062 + 17759 COSM48514 c.319A>T p.R107W Substitution - Missense 22:20985896-20985896 + TCGA-HW-A5KK-01 COSM3972869 c.1211G>A p.G404E Substitution - Missense 22:20992855-20992855 + MO_1215 COSM5561239 c.2259C>A p.N753K Substitution - Missense 22:20996735-20996735 + RMS112_ COSM4987686 c.1430C>T p.A477V Substitution - Missense 22:20994000-20994000 + TCGA-DI-A0WH-01 COSM1032416 c.880C>T p.R294C Substitution - Missense 22:20991716-20991716 + tumor_4135350 COSM1161414 c.203G>A p.R68H Substitution - Missense 22:20983029-20983029 + CHC923T COSM4801452 c.1209C>A p.F403L Substitution - Missense 22:20992853-20992853 + HCC138T COSM1616266 c.539delC p.T181fs*19 Deletion - Frameshift 22:20988818-20988818 + 66 COSM5744082 c.551G>A p.S184N Substitution - Missense 22:20988830-20988830 + TCGA-42-2591-01 COSM1327323 c.1274C>A p.P425H Substitution - Missense 22:20993675-20993675 + TCGA-12-0656 COSM2153686 c.589G>T p.A197S Substitution - Missense 22:20988868-20988868 + SJHYPO055 COSM4775935 c.1388T>G p.V463G Substitution - Missense 22:20993958-20993958 + TCGA-24-0966-01 COSM75328 c.314G>T p.W105L Substitution - Missense 22:20985891-20985891 + RK119_C01 COSM3740362 c.2325+9C>A p.? Unknown 22:20996810-20996810 + TCGA-FW-A3R5-06 COSM3912433 c.1517C>T p.P506L Substitution - Missense 22:20994171-20994171 + HCT15 COSM4632871 c.1431G>A p.A477A Substitution - coding silent 22:20994001-20994001 + TCGA-AC-A3W6-01 COSM3842240 c.636C>T p.L212L Substitution - coding silent 22:20989667-20989667 + HCT-15 COSM1682128 c.763C>A p.L255I Substitution - Missense 22:20990497-20990497 + SJHYPO055 COSM4775934 c.2291_2292insGC p.E765fs*3 Insertion - Frameshift 22:20996767-20996768 + TCGA-HU-8602-01 COSM1415045 c.1991C>T p.A664V Substitution - Missense 22:20995794-20995794 + CSCC-31-T COSM4517299 c.311_312CC>TT p.S104F Substitution - Missense 22:20985888-20985889 + HCC82T COSM1616265 c.178T>A p.C60S Substitution - Missense 22:20982549-20982549 + ESCC_BICR_014T COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + TCGA-66-2780-01 COSM725521 c.202C>G p.R68G Substitution - Missense 22:20983028-20983028 + sysucc-1370T COSM1032416 c.880C>T p.R294C Substitution - Missense 22:20991716-20991716 + TCGA-12-0656 COSM2153687 c.590C>T p.A197V Substitution - Missense 22:20988869-20988869 + 35M COSM5581592 c.1581C>T p.F527F Substitution - coding silent 22:20994235-20994235 + TCGA-AA-3713-01 COSM1415045 c.1991C>T p.A664V Substitution - Missense 22:20995794-20995794 + 90482 COSM329506 c.267G>C p.K89N Substitution - Missense 22:20985844-20985844 + sysucc-882T COSM5447457 c.851G>A p.R284H Substitution - Missense 22:20991687-20991687 + ESCC_BICR_018T COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + BN24T COSM1616268 c.1174G>A p.A392T Substitution - Missense 22:20992818-20992818 + H23 COSM1196319 c.2023G>T p.G675W Substitution - Missense 22:20995826-20995826 + 2492722 COSM5723211 c.755C>T p.T252I Substitution - Missense 22:20990489-20990489 + BN24 COSM1616268 c.1174G>A p.A392T Substitution - Missense 22:20992818-20992818 + ESCC-248T COSM3939571 c.2183A>G p.Y728C Substitution - Missense 22:20996076-20996076 + TCGA-AC-A23H-01 COSM3842243 c.1862C>T p.S621F Substitution - Missense 22:20994946-20994946 + TCGA-12-0656 COSM2153740 c.586A>T p.N196Y Substitution - Missense 22:20988865-20988865 + TCGA-B5-A11J-01 COSM1032419 c.1063C>T p.R355W Substitution - Missense 22:20992283-20992283 + 16921 COSM48515 c.842C>T p.P281L Substitution - Missense 22:20991678-20991678 + SC_9008 COSM3424054 c.1341C>T p.F447F Substitution - coding silent 22:20993742-20993742 + HDC54 COSM4636422 c.1312G>T p.E438* Substitution - Nonsense 22:20993713-20993713 + 8031644 COSM3390117 c.1296C>A p.D432E Substitution - Missense 22:20993697-20993697 + YUWIA COSM5393196 c.1616-1G>T p.? Unknown 22:20994557-20994557 + PCSI_0090_Pa_X COSM3785501 c.1901A>C p.Q634P Substitution - Missense 22:20994985-20994985 + YUMER COSM1714168 c.403G>A p.G135S Substitution - Missense 22:20988012-20988012 + BCM337T COSM4799040 c.160T>A p.W54R Substitution - Missense 22:20982531-20982531 + NOKSI COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + UPCI:SCC090 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + 93VU147T COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + CHC451T COSM4957218 c.322G>A p.A108T Substitution - Missense 22:20987505-20987505 + TCGA-AP-A051-01 COSM1032427 c.2306C>T p.T769M Substitution - Missense 22:20996782-20996782 + TCGA-12-0656 COSM2153739 c.588C>T p.N196N Substitution - coding silent 22:20988867-20988867 + TCGA-06-0188 COSM1032428 c.2428C>T p.R810W Substitution - Missense 22:20997253-20997253 + 2492729 COSM5726107 c.320G>A p.R107K Substitution - Missense 22:20985897-20985897 + ccRCC-44 COSM1177640 c.2273C>T p.A758V Substitution - Missense 22:20996749-20996749 + T578 COSM4699682 c.1851C>T p.F617F Substitution - coding silent 22:20994935-20994935 + PDA_061 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + TCGA-AP-A0LM-01 COSM1032412 c.295G>A p.D99N Substitution - Missense 22:20985872-20985872 + HCC82 COSM1616265 c.178T>A p.C60S Substitution - Missense 22:20982549-20982549 + TCGA-12-0656 COSM2153685 c.591C>G p.A197A Substitution - coding silent 22:20988870-20988870 + TCGA-D3-A51R-06 COSM3552379 c.1539C>T p.I513I Substitution - coding silent 22:20994193-20994193 + UM-SCC-47 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + CHC451T COSM4957218 c.322G>A p.A108T Substitution - Missense 22:20987505-20987505 + TCGA-43-2578-01 COSM725517 c.1183G>T p.V395F Substitution - Missense 22:20992827-20992827 + TCGA-AP-A059-01 COSM1032413 c.381G>A p.G127G Substitution - coding silent 22:20987564-20987564 + CSCC-55-T COSM4508026 c.763C>T p.L255F Substitution - Missense 22:20990497-20990497 + TCGA-D7-5578-01 COSM4102834 c.1210G>A p.G404R Substitution - Missense 22:20992854-20992854 + TCGA-AA-3994-01 COSM298114 c.742G>A p.G248R Substitution - Missense 22:20990476-20990476 + DLD1 COSM1682128 c.763C>A p.L255I Substitution - Missense 22:20990497-20990497 + TCGA-BR-7707-01 COSM4102836 c.1350T>C p.G450G Substitution - coding silent 22:20993751-20993751 + TCGA-06-5856-01 COSM3405531 c.1772T>G p.L591R Substitution - Missense 22:20994714-20994714 + ACINAR25 COSM1733758 c.2316C>A p.N772K Substitution - Missense 22:20996792-20996792 + TCGA-06-6697-01 COSM3405527 c.416A>C p.D139A Substitution - Missense 22:20988025-20988025 + TCGA-GV-A3QI-01 COSM1307986 c.835C>G p.P279A Substitution - Missense 22:20991671-20991671 + TCGA-06-2562 COSM2152827 c.313T>C p.W105R Substitution - Missense 22:20985890-20985890 + TCGA-12-0656 COSM2153738 c.587A>T p.N196I Substitution - Missense 22:20988866-20988866 + LUAD-E01278 COSM394239 c.1185C>T p.V395V Substitution - coding silent 22:20992829-20992829 + TCGA-D1-A169-01 COSM1032420 c.1217C>T p.T406M Substitution - Missense 22:20992861-20992861 + TCGA-43-2578-01 COSM725519 c.1182T>C p.A394A Substitution - coding silent 22:20992826-20992826 + CSCC-5-T COSM4452675 c.2050A>G p.I684V Substitution - Missense 22:20995853-20995853 + ESCC_BICR_034T COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + 3N38-VS-3T38 COSM4981389 c.2077G>C p.E693Q Substitution - Missense 22:20995970-20995970 + TCGA-HC-8216-01 COSM3783534 c.1942+2T>G p.? Unknown 22:20995028-20995028 + PD7516a COSM4440721 c.339C>A p.T113T Substitution - coding silent 22:20987522-20987522 + 11M COSM3424054 c.1341C>T p.F447F Substitution - coding silent 22:20993742-20993742 + UD-SCC-2 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + PD4100a COSM162308 c.418A>G p.I140V Substitution - Missense 22:20988027-20988027 + TCGA-61-1904-01 COSM1327324 c.555C>T p.D185D Substitution - coding silent 22:20988834-20988834 + TCGA-AX-A06H-01 COSM1032418 c.972C>T p.V324V Substitution - coding silent 22:20991808-20991808 + SWE-7 COSM1178636 c.2373C>G p.H791Q Substitution - Missense 22:20996933-20996933 + TCGA-AA-3821-01 COSM294537 c.2419C>T p.P807S Substitution - Missense 22:20997244-20997244 + BD57T COSM1032420 c.1217C>T p.T406M Substitution - Missense 22:20992861-20992861 + TCGA-63-5131-01 COSM725515 c.2032C>T p.R678W Substitution - Missense 22:20995835-20995835 + TCGA-04-1342-01 COSM133530 c.51_52AG>CA p.G18S Substitution - Missense 22:20982422-20982423 + ESCC_29 COSM5627528 c.1314G>A p.E438E Substitution - coding silent 22:20993715-20993715 + 1604875 COSM141615 c.1341C>A p.F447L Substitution - Missense 22:20993742-20993742 + TCGA-39-5019-01 COSM725516 c.1432C>A p.R478R Substitution - coding silent 22:20994002-20994002 + T155 COSM1176549 c.280G>T p.D94Y Substitution - Missense 22:20985857-20985857 + TCGA-06-5413-01 COSM298114 c.742G>A p.G248R Substitution - Missense 22:20990476-20990476 + TCGA-B6-A0I2-01 COSM444741 c.508C>T p.R170W Substitution - Missense 22:20988117-20988117 + TCGA-CG-4442-01 COSM4102831 c.488C>T p.T163M Substitution - Missense 22:20988097-20988097 + BICR_22 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + ESCC_BICR_006T COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + HN_00338 COSM124261 c.800G>A p.R267H Substitution - Missense 22:20991636-20991636 + 8061185 COSM3390116 c.1295A>C p.D432A Substitution - Missense 22:20993696-20993696 + TCGA-A6-6781-01 COSM1415047 c.2187C>T p.Y729Y Substitution - coding silent 22:20996080-20996080 + 4000_T COSM3964119 c.1406G>C p.W469S Substitution - Missense 22:20993976-20993976 + TCGA-09-2056-01 COSM86241 c.652-2A>C p.? Unknown 22:20990384-20990384 + TCGA-C8-A1HJ-01 COSM1484091 c.1615+1G>A p.? Unknown 22:20994270-20994270 + TCGA-CA-6718-01 COSM1161414 c.203G>A p.R68H Substitution - Missense 22:20983029-20983029 + WSU-HN6 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + CAL27 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + TCGA-ET-A2MY-01 COSM3371866 c.311C>G p.S104C Substitution - Missense 22:20985888-20985888 + TCGA-BF-A1PV-01 COSM3552377 c.1019G>A p.R340Q Substitution - Missense 22:20992239-20992239 + ESCC_BICR_028T COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + 2492720 COSM5723211 c.755C>T p.T252I Substitution - Missense 22:20990489-20990489 + TCGA-A5-A0VP-01 COSM1032415 c.850C>T p.R284C Substitution - Missense 22:20991686-20991686 + PTC_221 COSM3759057 c.210G>A p.K70K Substitution - coding silent 22:20983036-20983036 + TCGA-AY-6197-01 COSM3693954 c.1459C>T p.Q487* Substitution - Nonsense 22:20994113-20994113 + TCGA-EE-A2A0-06 COSM3424054 c.1341C>T p.F447F Substitution - coding silent 22:20993742-20993742 + CAL33 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + WA16 COSM240564 c.2023G>A p.G675R Substitution - Missense 22:20995826-20995826 + HCT8 COSM1682129 c.2059G>A p.A687T Substitution - Missense 22:20995862-20995862 + BD23T COSM5495720 c.2458A>G p.I820V Substitution - Missense 22:20997283-20997283 + CSCC-20-T COSM4528094 c.1510G>A p.A504T Substitution - Missense 22:20994164-20994164 + TCGA-BS-A0UJ-01 COSM1032414 c.628C>T p.R210* Substitution - Nonsense 22:20989659-20989659 + LUAD-F00282 COSM367317 c.550A>T p.S184C Substitution - Missense 22:20988829-20988829 + S02286 COSM5685351 c.654G>T p.V218V Substitution - coding silent 22:20990388-20990388 + TCGA-F5-6814-01 COSM3424054 c.1341C>T p.F447F Substitution - coding silent 22:20993742-20993742 + T3610 COSM4699681 c.489G>A p.T163T Substitution - coding silent 22:20988098-20988098 + IPMN12 COSM248807 c.226T>A p.Y76N Substitution - Missense 22:20983052-20983052 + WSU-HN12 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + TCGA-AZ-4315-01 COSM1415041 c.753A>C p.I251I Substitution - coding silent 22:20990487-20990487 + HCT15 COSM1682128 c.763C>A p.L255I Substitution - Missense 22:20990497-20990497 + TCGA-76-6657-01 COSM3405528 c.428A>C p.N143T Substitution - Missense 22:20988037-20988037 + 3N24-VS-3T24 COSM4979786 c.1872G>A p.L624L Substitution - coding silent 22:20994956-20994956 + RK308_C01 COSM3740361 c.1181C>A p.A394D Substitution - Missense 22:20992825-20992825 + TCGA-D8-A1JN-01 COSM3842241 c.856G>A p.G286R Substitution - Missense 22:20991692-20991692 + WSU-HN8 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + TCGA-BF-A1PZ-01 COSM4399286 c.614T>G p.I205S Substitution - Missense 22:20989645-20989645 + EW8 COSM1415047 c.2187C>T p.Y729Y Substitution - coding silent 22:20996080-20996080 + CSCC-47-T COSM3308551 c.351C>T p.P117P Substitution - coding silent 22:20987534-20987534 + DLD1 COSM1682129 c.2059G>A p.A687T Substitution - Missense 22:20995862-20995862 + UM-SCC-4 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + 8044424 COSM3390115 c.1215C>T p.G405G Substitution - coding silent 22:20992859-20992859 + 0064_CRUK_PC_0064_T1_DNA COSM4421082 c.2390T>A p.V797E Substitution - Missense 22:20996950-20996950 + 0085_CRUK_PC_0085_T1_DNA COSM5421329 c.1880A>G p.E627G Substitution - Missense 22:20994964-20994964 + TCGA-06-0188-01 COSM1032428 c.2428C>T p.R810W Substitution - Missense 22:20997253-20997253 + 587342 COSM124261 c.800G>A p.R267H Substitution - Missense 22:20991636-20991636 + pfg008T COSM1641505 c.263G>T p.G88V Substitution - Missense 22:20983089-20983089 + PT35 COSM5914410 c.352C>T p.R118C Substitution - Missense 22:20987535-20987535 + CCK81 COSM298114 c.742G>A p.G248R Substitution - Missense 22:20990476-20990476 + ACINAR21 COSM1733757 c.509+1G>T p.? Unknown 22:20988119-20988119 + 2492723 COSM5723211 c.755C>T p.T252I Substitution - Missense 22:20990489-20990489 + PET107T COSM5825278 c.2127C>T p.S709S Substitution - coding silent 22:20996020-20996020 + CSCC-35-T COSM4462153 c.1234C>T p.R412C Substitution - Missense 22:20992878-20992878 + ORL-48 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + PR-04-3222 COSM245533 c.1014C>T p.P338P Substitution - coding silent 22:20992234-20992234 + TCGA-A6-5665-01 COSM1415046 c.2161G>A p.E721K Substitution - Missense 22:20996054-20996054 + TCGA-B5-A11Y-01 COSM1032421 c.1235G>A p.R412H Substitution - Missense 22:20992879-20992879 + Gp2D COSM1032415 c.850C>T p.R284C Substitution - Missense 22:20991686-20991686 + PDA_026 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + CRC-02T COSM5454988 c.927C>T p.N309N Substitution - coding silent 22:20991763-20991763 + LUAD-YINHD COSM350291 c.731C>G p.S244C Substitution - Missense 22:20990465-20990465 + TCGA-FS-A1ZT-06 COSM298114 c.742G>A p.G248R Substitution - Missense 22:20990476-20990476 + CAL27 COSM3308579 c.1735G>A p.V579M Substitution - Missense 22:20994677-20994677 + 2492721 COSM5723211 c.755C>T p.T252I Substitution - Missense 22:20990489-20990489 + LS411 COSM4632871 c.1431G>A p.A477A Substitution - coding silent 22:20994001-20994001 + TCGA-B5-A0K9-01 COSM1032422 c.1711G>A p.E571K Substitution - Missense 22:20994653-20994653 + UM-SCC-17B COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + YUKSI COSM5393195 c.1002G>A p.G334G Substitution - coding silent 22:20992222-20992222 + I2L-P19Ta-Tumor-Biopsy COSM5366419 c.1425G>A p.T475T Substitution - coding silent 22:20993995-20993995 + SC_9084 COSM5557067 c.752T>G p.I251R Substitution - Missense 22:20990486-20990486 + LOVO COSM3308578 c.1698C>T p.C566C Substitution - coding silent 22:20994640-20994640 + 8034061 COSM3390118 c.1353+4G>A p.? Unknown 22:20993758-20993758 + ICGC_MB78 COSM3764912 c.1366G>A p.V456M Substitution - Missense 22:20993936-20993936 + 0-09-0362-T COSM2157543 c.1057G>T p.E353* Substitution - Nonsense 22:20992277-20992277 + TCGA-32-4209-01 COSM3308552 c.353G>A p.R118H Substitution - Missense 22:20987536-20987536 + 91577 COSM329695 c.1150-5delC p.? Unknown 22:20992789-20992789 + S00832 COSM5660898 c.1200G>A p.M400I Substitution - Missense 22:20992844-20992844 + TCGA-AC-A5XS-01 COSM3972870 c.1397G>A p.R466Q Substitution - Missense 22:20993967-20993967 + BCM337T COSM4799040 c.160T>A p.W54R Substitution - Missense 22:20982531-20982531 + CSCC-31-T COSM4508274 c.76C>T p.P26S Substitution - Missense 22:20982447-20982447 + TCGA-DG-A2KH-01 COSM4851273 c.847C>T p.R283W Substitution - Missense 22:20991683-20991683 + TCGA-CG-5723-01 COSM3308560 c.621C>T p.L207L Substitution - coding silent 22:20989652-20989652 + SCC-15 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + 2024537 COSM1716436 c.1126delC p.Q376fs*85 Deletion - Frameshift 22:20992346-20992346 + TCGA-EE-A2GR-06 COSM3552375 c.729C>A p.F243L Substitution - Missense 22:20990463-20990463 + YUKAT COSM4699682 c.1851C>T p.F617F Substitution - coding silent 22:20994935-20994935 + HN_00190 COSM121153 c.1242G>T p.G414G Substitution - coding silent 22:20992886-20992886 + TCGA-32-4210-01 COSM3405530 c.850C>A p.R284S Substitution - Missense 22:20991686-20991686 + HCT-15 COSM1682129 c.2059G>A p.A687T Substitution - Missense 22:20995862-20995862 + ATL020 COSM5707604 c.1679G>A p.C560Y Substitution - Missense 22:20994621-20994621 + XHDG35 COSM4769614 c.263+2T>G p.? Unknown 22:20983091-20983091 + TCGA-G4-6588-01 COSM1415040 c.602A>G p.D201G Substitution - Missense 22:20989633-20989633 + YURIF COSM1714167 c.338C>T p.T113I Substitution - Missense 22:20987521-20987521 + TCGA-HU-A4GQ-01 COSM4102835 c.1319G>A p.R440H Substitution - Missense 22:20993720-20993720 + PCSI_0506_Pa_P_526 COSM4808890 c.967G>T p.V323F Substitution - Missense 22:20991803-20991803 + PD22355a COSM2156442 c.1310G>A p.W437* Substitution - Nonsense 22:20993711-20993711 + TCGA-DU-5874-01 COSM3972870 c.1397G>A p.R466Q Substitution - Missense 22:20993967-20993967 + UM-SCC-2 COSM4589981 c.646_651+31del37 p.? Unknown 22:20989677-20989713 + pfg024T COSM1641506 c.283C>T p.L95F Substitution - Missense 22:20985860-20985860 + CHC923T COSM4801452 c.1209C>A p.F403L Substitution - Missense 22:20992853-20992853 + TCGA-BR-4362-01 COSM3371866 c.311C>G p.S104C Substitution - Missense 22:20985888-20985888 + Au5 COSM5605861 c.187T>C p.F63L Substitution - Missense 22:20982558-20982558 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.78781;Hs.78788 22q11.21|22q11.1-q11.2 600574 1525205|dbSNP|BC026214|C/T|non-coding||3071|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D139A c.416A>C 22 21342314 GBM A C Missense p.N143T c.428A>C 22 21342326 GBM A C SpliceAcceptorSNV . c.652-2A>C 22 21344673 OV AG CA Missense p.G18S c.51_52delinsCA 22 21336711 OV AGG - SpliceAcceptorDeletion . c.1360_1362delGAG 22 21348214 STAD A G Missense p.E660G c.1979A>G 22 21350071 UCEC A G Missense p.I140V c.418A>G 22 21342316 BRCA A G Missense p.I474V c.1420A>G 22 21348279 HNSC A G Missense p.T288A c.862A>G 22 21345987 LUSC A T 3-UTRSNV . c.2520+122A>T 22 21351756 HC A T Missense p.E431V c.1292A>T 22 21347982 HNSC A T Missense p.R107W c.319A>T 22 21340185 LUAD C A Missense p.F243L c.729C>A 22 21344752 CM C A Missense p.R284S c.850C>A 22 21345975 GBM C A Synonymous p.P701P c.2103C>A 22 21350285 STAD C A Synonymous p.R478R c.1432C>A 22 21348291 LUSC CC TT Missense p.S104F c.311_312delinsTT 22 21340177 CM C G IntronicSNV . c.2406+30C>G 22 21351285 RCCC C G Missense p.F601L c.1803C>G 22 21349176 LUAD C G Missense p.P279A c.835C>G 22 21345960 BLCA C G Missense p.R68G c.202C>G 22 21337317 LUSC C G Missense p.S104C c.311C>G 22 21340177 THCA C T 3-UTRSNV . c.2520+242C>T 22 21351876 MB C T Missense p.A586V c.1757C>T 22 21348988 HNSC C T Missense p.L95F c.283C>T 22 21340149 STAD C T Missense p.P232L c.695C>T 22 21344718 CM C T Missense p.P281L c.842C>T 22 21345967 LUAD C T Missense p.P281L c.842C>T 22 21345967 UCEC C T Missense p.R170W c.508C>T 22 21342406 BRCA C T Missense p.R284C c.850C>T 22 21345975 UCEC C T Missense p.R294C c.880C>T 22 21346005 UCEC C T Missense p.R355W c.1063C>T 22 21346572 UCEC C T Missense p.R678W c.2032C>T 22 21350124 LUSC C T Missense p.R68C c.202C>T 22 21337317 UCEC C T Missense p.R790W c.2368C>T 22 21351217 STAD C T Missense p.R810W c.2428C>T 22 21351542 GBM C T Missense p.R810W c.2428C>T 22 21351542 UCEC C T Missense p.R97W c.289C>T 22 21340155 LUAD C T Missense p.T406M c.1217C>T 22 21347150 UCEC C T Synonymous p.C236C c.708C>T 22 21344731 LUAD C T Synonymous p.D102D c.306C>T 22 21340172 CM C T Synonymous p.F447F c.1341C>T 22 21348031 CM C T Synonymous p.L620L c.1860C>T 22 21349233 CM C T Synonymous p.V324V c.972C>T 22 21346097 UCEC GAA - InFrameDeletion p.K615delK c.1843_1845delAAG 22 21349215 GBM G A IntronicSNV . c.1942+56G>A 22 21349371 CM G A IntronicSNV . c.2326-39G>A 22 21351136 CM G A IntronicSNV . c.2407-96G>A 22 21351425 CM G A Missense p.D738N c.2212G>A 22 21350394 CM G A Missense p.D99N c.295G>A 22 21340161 CM G A Missense p.E431K c.1291G>A 22 21347981 LUAD G A Missense p.E571K c.1711G>A 22 21348942 UCEC G A Missense p.G195S c.583G>A 22 21343151 GBM G A Missense p.G248R c.742G>A 22 21344765 CM G A Missense p.G248R c.742G>A 22 21344765 COREAD G A Missense p.G248R c.742G>A 22 21344765 GBM G A Missense p.G404R c.1210G>A 22 21347143 STAD G A Missense p.R118H c.353G>A 22 21341825 GBM G A Missense p.R267H c.800G>A 22 21345925 HNSC G A Missense p.R340Q c.1019G>A 22 21346528 CM G A Missense p.R412H c.1235G>A 22 21347168 UCEC G A Missense p.R466Q c.1397G>A 22 21348256 LGG G A Missense p.R697Q c.2090G>A 22 21350272 UCEC G A Missense p.V456M c.1366G>A 22 21348225 MB G A SpliceDonorSNV . c.1615+1G>A 22 21348559 BRCA G A Synonymous p.T306T c.918G>A 22 21346043 UCEC G A Synonymous p.V611V c.1833G>A 22 21349206 HNSC - GC Frameshift p.E765Afs*3 c.2293_2294insCG 22 21351057 ALL G C Missense p.A477P c.1429G>C 22 21348288 LUAD G - Frameshift p.S467Afs*89 c.1398delG 22 21348256 LUAD GG AA IntronicBlockSubstitution . c.2407-43_2407-42delinsAA 22 21351478 CM - GGCACTGGACATG Frameshift p.A785Gfs*70 c.2353_2354insGCACTGGACATGG 22 21351201 BRCA G T IntronicSNV . c.2406+48G>T 22 21351303 BRCA G T Missense p.G195C c.583G>T 22 21343151 LUAD G T Missense p.G88V c.263G>T 22 21337378 STAD G T Missense p.R480M c.1439G>T 22 21348298 NB G T Missense p.V395F c.1183G>T 22 21347116 LUSC G T Missense p.W105L c.314G>T 22 21340180 OV G T Synonymous p.G414G c.1242G>T 22 21347175 HNSC T C Missense p.W105R c.313T>C 22 21340179 GBM T C Synonymous p.A394A c.1182T>C 22 21347115 LUSC T C Synonymous p.S184S c.552T>C 22 21343120 LUAD T - Frameshift p.C566Afs*26 c.1696delT 22 21348927 RCCC T - Frameshift p.F743Lfs*24 c.2229delT 22 21350992 BRCA T G Missense p.I205S c.614T>G 22 21343934 CM T G Missense p.L591R c.1772T>G 22 21349003 GBM T G Missense p.V463G c.1388T>G 22 21348247 ALL T G SpliceDonorSNV . c.1942+2T>G 22 21349317 PRAD