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 21 35166743 35166743 + Silent SNP A A G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr21:35166743A>G c.1923A>G c.(1921-1923)gaA>gaG p.E641E ACC 21 35208767 35208767 + Silent SNP C C T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr21:35208767C>T c.3492C>T c.(3490-3492)taC>taT p.Y1164Y BLCA 21 35107492 35107492 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr21:35107492C>G c.329C>G c.(328-330)tCt>tGt p.S110C BLCA 21 35122567 35122567 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 g.chr21:35122567C>T c.466C>T c.(466-468)Ccc>Tcc p.P156S BLCA 21 35138249 35138249 + Missense_Mutation SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 g.chr21:35138249G>A c.859G>A c.(859-861)Gat>Aat p.D287N BLCA 21 35144562 35144562 + Missense_Mutation SNP G G C TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr21:35144562G>C c.1240G>C c.(1240-1242)Gaa>Caa p.E414Q BLCA 21 35147066 35147066 + Missense_Mutation SNP C C G TCGA-GU-AATQ-01A-11D-A391-08 TCGA-GU-AATQ-10A-01D-A394-08 g.chr21:35147066C>G c.1339C>G c.(1339-1341)Ctt>Gtt p.L447V BLCA 21 35147080 35147080 + Silent SNP G G T TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr21:35147080G>T c.1353G>T c.(1351-1353)cgG>cgT p.R451R BLCA 21 35147085 35147085 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr21:35147085G>A c.1358G>A c.(1357-1359)cGa>cAa p.R453Q BLCA 21 35147174 35147174 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr21:35147174G>C c.1447G>C c.(1447-1449)Gaa>Caa p.E483Q BLCA 21 35153820 35153820 + Missense_Mutation SNP A A G TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr21:35153820A>G c.1652A>G c.(1651-1653)cAa>cGa p.Q551R BLCA 21 35166747 35166747 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr21:35166747G>C c.1927G>C c.(1927-1929)Gaa>Caa p.E643Q BLCA 21 35169762 35169762 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr21:35169762G>A c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K BLCA 21 35183344 35183344 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr21:35183344G>A c.2385G>A c.(2383-2385)tgG>tgA p.W795* BLCA 21 35183365 35183365 + Missense_Mutation SNP G G C TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr21:35183365G>C c.2406G>C c.(2404-2406)gaG>gaC p.E802D BLCA 21 35190667 35190667 + Missense_Mutation SNP G G A TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr21:35190667G>A c.2824G>A c.(2824-2826)Gtc>Atc p.V942I BLCA 21 35206683 35206683 + Missense_Mutation SNP A A C TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr21:35206683A>C c.3424A>C c.(3424-3426)Aaa>Caa p.K1142Q BLCA 21 35231051 35231051 + Missense_Mutation SNP T T G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr21:35231051T>G c.3845T>G c.(3844-3846)tTt>tGt p.F1282C BLCA 21 35239540 35239540 + Silent SNP T T C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr21:35239540T>C c.4078T>C c.(4078-4080)Ttg>Ctg p.L1360L BLCA 21 35247702 35247702 + Silent SNP G G A TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr21:35247702G>A c.4218G>A c.(4216-4218)ttG>ttA p.L1406L BLCA 21 35247748 35247748 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr21:35247748G>A c.4264G>A c.(4264-4266)Gaa>Aaa p.E1422K BLCA 21 35255954 35255954 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 g.chr21:35255954G>A c.4655G>A c.(4654-4656)cGa>cAa p.R1552Q BLCA 21 35257366 35257366 + Missense_Mutation SNP C C G TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr21:35257366C>G c.4698C>G c.(4696-4698)atC>atG p.I1566M BRCA 21 35122544 35122544 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr21:35122544C>G c.443C>G c.(442-444)tCt>tGt p.S148C BRCA 21 35138278 35138278 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr21:35138278A>C c.888A>C c.(886-888)ccA>ccC p.P296P BRCA 21 35147278 35147278 + Frame_Shift_Del DEL A A - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr21:35147278delA c.1462delA c.(1462-1464)aaafs p.K489fs BRCA 21 35154375 35154375 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr21:35154375G>A c.1762G>A c.(1762-1764)Gaa>Aaa p.E588K BRCA 21 35172111 35172111 + Splice_Site SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr21:35172111G>A c.e19-1 BRCA 21 35183328 35183328 + Missense_Mutation SNP A A G TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr21:35183328A>G c.2369A>G c.(2368-2370)aAa>aGa p.K790R BRCA 21 35183459 35183459 + Missense_Mutation SNP G G A TCGA-E2-A14T-01A-11D-A10Y-09 TCGA-E2-A14T-10A-01D-A110-09 g.chr21:35183459G>A c.2500G>A c.(2500-2502)Gcc>Acc p.A834T BRCA 21 35183510 35183510 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr21:35183510G>A c.2551G>A c.(2551-2553)Gcc>Acc p.A851T BRCA 21 35190573 35190573 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr21:35190573T>G c.2730T>G c.(2728-2730)ggT>ggG p.G910G BRCA 21 35190581 35190581 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr21:35190581T>G c.2738T>G c.(2737-2739)gTg>gGg p.V913G BRCA 21 35254747 35254747 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr21:35254747A>C c.4542A>C c.(4540-4542)aaA>aaC p.K1514N BRCA 21 35255938 35255938 + Missense_Mutation SNP C C T TCGA-A8-A09D-01A-11W-A019-09 TCGA-A8-A09D-10A-01W-A021-09 g.chr21:35255938C>T c.4639C>T c.(4639-4641)Cgc>Tgc p.R1547C BRCA 21 35258721 35258721 + Silent SNP C C G TCGA-GI-A2C8-01A-11D-A16D-09 TCGA-GI-A2C8-11A-22D-A16D-09 g.chr21:35258721C>G c.4974C>G c.(4972-4974)gtC>gtG p.V1658V CESC 21 35147123 35147123 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr21:35147123G>A c.1396G>A c.(1396-1398)Gag>Aag p.E466K CESC 21 35154300 35154300 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr21:35154300G>C c.1687G>C c.(1687-1689)Gat>Cat p.D563H CESC 21 35201969 35201969 + Missense_Mutation SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr21:35201969G>A c.3271G>A c.(3271-3273)Gag>Aag p.E1091K CESC 21 35257379 35257379 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr21:35257379G>A c.4711G>A c.(4711-4713)Gaa>Aaa p.E1571K COAD 21 35094910 35094910 + Frame_Shift_Del DEL T T - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr21:35094910delT c.139delT c.(139-141)tttfs p.F49fs COAD 21 35107452 35107452 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr21:35107452G>A c.289G>A c.(289-291)Gca>Aca p.A97T COAD 21 35107497 35107497 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr21:35107497G>A c.334G>A c.(334-336)Gca>Aca p.A112T COAD 21 35138281 35138281 + Silent SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:35138281T>G c.891T>G c.(889-891)ccT>ccG p.P297P COAD 21 35140024 35140024 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:35140024C>T c.934C>T c.(934-936)Cga>Tga p.R312* COAD 21 35144571 35144571 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:35144571C>T c.1249C>T c.(1249-1251)Cgg>Tgg p.R417W COAD 21 35169726 35169726 + Nonsense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr21:35169726C>T c.1996C>T c.(1996-1998)Cag>Tag p.Q666* COAD 21 35183447 35183447 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr21:35183447C>T c.2488C>T c.(2488-2490)Cgt>Tgt p.R830C COAD 21 35183447 35183447 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:35183447C>T c.2488C>T c.(2488-2490)Cgt>Tgt p.R830C COAD 21 35190666 35190666 + Silent SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr21:35190666C>T c.2823C>T c.(2821-2823)acC>acT p.T941T COAD 21 35195812 35195812 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:35195812A>G c.3038A>G c.(3037-3039)tAc>tGc p.Y1013C COAD 21 35201957 35201957 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr21:35201957G>A c.3259G>A c.(3259-3261)Gcc>Acc p.A1087T COAD 21 35237469 35237469 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr21:35237469G>A c.3905G>A c.(3904-3906)cGc>cAc p.R1302H COAD 21 35237557 35237557 + Silent SNP C C A TCGA-AA-3870-01A-01W-0995-10 TCGA-AA-3870-10A-01W-0995-10 g.chr21:35237557C>A c.3993C>A c.(3991-3993)cgC>cgA p.R1331R COAD 21 35237633 35237633 + Missense_Mutation SNP G G T TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr21:35237633G>T c.4069G>T c.(4069-4071)Gtc>Ttc p.V1357F COAD 21 35239619 35239619 + Missense_Mutation SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr21:35239619C>A c.4157C>A c.(4156-4158)cCa>cAa p.P1386Q COAD 21 35254658 35254658 + Missense_Mutation SNP G G A TCGA-AA-A01X-01A-21W-A096-10 TCGA-AA-A01X-11A-11W-A096-10 g.chr21:35254658G>A c.4453G>A c.(4453-4455)Gac>Aac p.D1485N COAD 21 35254665 35254665 + Missense_Mutation SNP T T C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr21:35254665T>C c.4460T>C c.(4459-4461)cTc>cCc p.L1487P COAD 21 35254665 35254665 + Missense_Mutation SNP T T C TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr21:35254665T>C c.4460T>C c.(4459-4461)cTc>cCc p.L1487P COAD 21 35254683 35254683 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:35254683C>T c.4478C>T c.(4477-4479)aCg>aTg p.T1493M COAD 21 35257409 35257409 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr21:35257409C>T c.4741C>T c.(4741-4743)Cgc>Tgc p.R1581C COAD 21 35257411 35257411 + Silent SNP C C T TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr21:35257411C>T c.4743C>T c.(4741-4743)cgC>cgT p.R1581R COAD 21 35260480 35260480 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr21:35260480G>A c.5042G>A c.(5041-5043)cGt>cAt p.R1681H COADREAD 21 35094910 35094910 + Frame_Shift_Del DEL T T - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr21:35094910delT c.139delT c.(139-141)tttfs p.F49fs COADREAD 21 35107452 35107452 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr21:35107452G>A c.289G>A c.(289-291)Gca>Aca p.A97T COADREAD 21 35107497 35107497 + Missense_Mutation SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr21:35107497G>A c.334G>A c.(334-336)Gca>Aca p.A112T COADREAD 21 35138281 35138281 + Silent SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:35138281T>G c.891T>G c.(889-891)ccT>ccG p.P297P COADREAD 21 35140024 35140024 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35140024C>T c.934C>T c.(934-936)Cga>Tga p.R312* COADREAD 21 35140024 35140024 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:35140024C>T c.934C>T c.(934-936)Cga>Tga p.R312* COADREAD 21 35144467 35144467 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35144467G>A c.1145G>A c.(1144-1146)cGc>cAc p.R382H COADREAD 21 35144571 35144571 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:35144571C>T c.1249C>T c.(1249-1251)Cgg>Tgg p.R417W COADREAD 21 35147383 35147383 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35147383G>A c.1567G>A c.(1567-1569)Gaa>Aaa p.E523K COADREAD 21 35153769 35153769 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35153769C>A c.1601C>A c.(1600-1602)tCt>tAt p.S534Y COADREAD 21 35154339 35154339 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35154339G>T c.1726G>T c.(1726-1728)Gaa>Taa p.E576* COADREAD 21 35169726 35169726 + Nonsense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr21:35169726C>T c.1996C>T c.(1996-1998)Cag>Tag p.Q666* COADREAD 21 35183447 35183447 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr21:35183447C>T c.2488C>T c.(2488-2490)Cgt>Tgt p.R830C COADREAD 21 35183447 35183447 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:35183447C>T c.2488C>T c.(2488-2490)Cgt>Tgt p.R830C COADREAD 21 35190666 35190666 + Silent SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr21:35190666C>T c.2823C>T c.(2821-2823)acC>acT p.T941T COADREAD 21 35195812 35195812 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:35195812A>G c.3038A>G c.(3037-3039)tAc>tGc p.Y1013C COADREAD 21 35201957 35201957 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr21:35201957G>A c.3259G>A c.(3259-3261)Gcc>Acc p.A1087T COADREAD 21 35208896 35208896 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35208896T>G c.3621T>G c.(3619-3621)aaT>aaG p.N1207K COADREAD 21 35230996 35230996 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35230996C>A c.3790C>A c.(3790-3792)Caa>Aaa p.Q1264K COADREAD 21 35237469 35237469 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr21:35237469G>A c.3905G>A c.(3904-3906)cGc>cAc p.R1302H COADREAD 21 35237557 35237557 + Silent SNP C C A TCGA-AA-3870-01A-01W-0995-10 TCGA-AA-3870-10A-01W-0995-10 g.chr21:35237557C>A c.3993C>A c.(3991-3993)cgC>cgA p.R1331R COADREAD 21 35237600 35237600 + Missense_Mutation SNP A A C TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr21:35237600A>C c.4036A>C c.(4036-4038)Aag>Cag p.K1346Q COADREAD 21 35237633 35237633 + Missense_Mutation SNP G G T TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr21:35237633G>T c.4069G>T c.(4069-4071)Gtc>Ttc p.V1357F COADREAD 21 35239619 35239619 + Missense_Mutation SNP C C A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr21:35239619C>A c.4157C>A c.(4156-4158)cCa>cAa p.P1386Q COADREAD 21 35254658 35254658 + Missense_Mutation SNP G G A TCGA-AA-A01X-01A-21W-A096-10 TCGA-AA-A01X-11A-11W-A096-10 g.chr21:35254658G>A c.4453G>A c.(4453-4455)Gac>Aac p.D1485N COADREAD 21 35254665 35254665 + Missense_Mutation SNP T T C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr21:35254665T>C c.4460T>C c.(4459-4461)cTc>cCc p.L1487P COADREAD 21 35254665 35254665 + Missense_Mutation SNP T T C TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr21:35254665T>C c.4460T>C c.(4459-4461)cTc>cCc p.L1487P COADREAD 21 35254683 35254683 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:35254683C>T c.4478C>T c.(4477-4479)aCg>aTg p.T1493M COADREAD 21 35257409 35257409 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr21:35257409C>T c.4741C>T c.(4741-4743)Cgc>Tgc p.R1581C COADREAD 21 35257411 35257411 + Silent SNP C C T TCGA-DM-A0XD-01A-12D-A152-10 TCGA-DM-A0XD-10A-01D-A152-10 g.chr21:35257411C>T c.4743C>T c.(4741-4743)cgC>cgT p.R1581R COADREAD 21 35260480 35260480 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr21:35260480G>A c.5042G>A c.(5041-5043)cGt>cAt p.R1681H COADREAD 21 35260545 35260545 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35260545G>A c.5107G>A c.(5107-5109)Gaa>Aaa p.E1703K DLBC 21 35147359 35147359 + Missense_Mutation SNP A A C TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr21:35147359A>C c.1543A>C c.(1543-1545)Aaa>Caa p.K515Q DLBC 21 35190669 35190669 + Silent SNP C C T TCGA-FF-8061-01A-11D-2210-10 TCGA-FF-8061-10A-01D-2210-10 g.chr21:35190669C>T c.2826C>T c.(2824-2826)gtC>gtT p.V942V ESCA 21 35122555 35122555 + Missense_Mutation SNP A A G TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr21:35122555A>G c.454A>G c.(454-456)Aca>Gca p.T152A ESCA 21 35195800 35195800 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr21:35195800C>T c.3026C>T c.(3025-3027)gCc>gTc p.A1009V ESCA 21 35208798 35208798 + Missense_Mutation SNP G G A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr21:35208798G>A c.3523G>A c.(3523-3525)Gcc>Acc p.A1175T ESCA 21 35229051 35229051 + Missense_Mutation SNP T T A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr21:35229051T>A c.3673T>A c.(3673-3675)Tta>Ata p.L1225I ESCA 21 35257345 35257345 + Splice_Site SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 g.chr21:35257345G>T c.4677G>T c.(4675-4677)agG>agT p.R1559S ESCA 21 35257404 35257404 + Missense_Mutation SNP A A G TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 g.chr21:35257404A>G c.4736A>G c.(4735-4737)aAg>aGg p.K1579R GBM 21 35206635 35206635 + Missense_Mutation SNP G G A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 g.chr21:35206635G>A c.3376G>A c.(3376-3378)Ggc>Agc p.G1126S GBM 21 35230998 35230998 + Silent SNP A A G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 g.chr21:35230998A>G c.3792A>G c.(3790-3792)caA>caG p.Q1264Q GBM 21 35231057 35231057 + Missense_Mutation SNP A A C TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 g.chr21:35231057A>C c.3851A>C c.(3850-3852)aAc>aCc p.N1284T GBM 21 35254584 35254584 + Missense_Mutation SNP C C T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 g.chr21:35254584C>T c.4379C>T c.(4378-4380)cCg>cTg p.P1460L GBMLGG 21 35094910 35094910 + Frame_Shift_Del DEL T T - TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 g.chr21:35094910delT c.139delT c.(139-141)tttfs p.F49fs GBMLGG 21 35140087 35140087 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:35140087C>T c.997C>T c.(997-999)Cca>Tca p.P333S GBMLGG 21 35144467 35144467 + Missense_Mutation SNP G G A TCGA-E1-A7YL-01A-11D-A34A-08 TCGA-E1-A7YL-10A-01D-A34A-08 g.chr21:35144467G>A c.1145G>A c.(1144-1146)cGc>cAc p.R382H GBMLGG 21 35153849 35153849 + Missense_Mutation SNP C C T TCGA-P5-A736-01A-11D-A32B-08 TCGA-P5-A736-10A-01D-A329-08 g.chr21:35153849C>T c.1681C>T c.(1681-1683)Cac>Tac p.H561Y GBMLGG 21 35169735 35169735 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:35169735G>A c.2005G>A c.(2005-2007)Gag>Aag p.E669K GBMLGG 21 35183494 35183494 + Silent SNP G G A TCGA-HT-8114-01A-11D-2395-08 TCGA-HT-8114-10A-01D-2396-08 g.chr21:35183494G>A c.2535G>A c.(2533-2535)acG>acA p.T845T GBMLGG 21 35183494 35183494 + Silent SNP G G A TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 g.chr21:35183494G>A c.2535G>A c.(2533-2535)acG>acA p.T845T GBMLGG 21 35186340 35186340 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:35186340G>A c.2691G>A c.(2689-2691)acG>acA p.T897T GBMLGG 21 35206635 35206635 + Missense_Mutation SNP G G A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 g.chr21:35206635G>A c.3376G>A c.(3376-3378)Ggc>Agc p.G1126S GBMLGG 21 35208937 35208937 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:35208937G>A c.e29+1 GBMLGG 21 35230998 35230998 + Silent SNP A A G TCGA-06-0188-01A-01W-0254-08 TCGA-06-0188-10B-01W-0254-08 g.chr21:35230998A>G c.3792A>G c.(3790-3792)caA>caG p.Q1264Q GBMLGG 21 35231057 35231057 + Missense_Mutation SNP A A C TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 g.chr21:35231057A>C c.3851A>C c.(3850-3852)aAc>aCc p.N1284T GBMLGG 21 35237613 35237613 + Frame_Shift_Del DEL C C - TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 g.chr21:35237613delC c.4049delC c.(4048-4050)gccfs p.A1350fs GBMLGG 21 35254584 35254584 + Missense_Mutation SNP C C T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 g.chr21:35254584C>T c.4379C>T c.(4378-4380)cCg>cTg p.P1460L GBMLGG 21 35255925 35255925 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:35255925C>A c.4626C>A c.(4624-4626)atC>atA p.I1542I HNSC 21 35093561 35093561 + Missense_Mutation SNP C C G TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr21:35093561C>G c.107C>G c.(106-108)tCt>tGt p.S36C HNSC 21 35107450 35107450 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr21:35107450C>G c.287C>G c.(286-288)tCt>tGt p.S96C HNSC 21 35166702 35166702 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr21:35166702G>A c.1882G>A c.(1882-1884)Gaa>Aaa p.E628K HNSC 21 35166729 35166729 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 g.chr21:35166729C>G c.1909C>G c.(1909-1911)Cga>Gga p.R637G HNSC 21 35190747 35190747 + Silent SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 g.chr21:35190747C>G c.2904C>G c.(2902-2904)ctC>ctG p.L968L HNSC 21 35208792 35208792 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 g.chr21:35208792G>C c.3517G>C c.(3517-3519)Gag>Cag p.E1173Q HNSC 21 35208857 35208859 + In_Frame_Del DEL AGG AGG - TCGA-CQ-6225-01A-11D-1912-08 TCGA-CQ-6225-10A-01D-1912-08 g.chr21:35208857_35208859delAGG c.3582_3584delAGG c.(3580-3585)aaagga>aaa p.G1195del HNSC 21 35257786 35257786 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr21:35257786C>T c.4803C>T c.(4801-4803)aaC>aaT p.N1601N KICH 21 35260567 35260567 + Missense_Mutation SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr21:35260567T>C c.5129T>C c.(5128-5130)gTg>gCg p.V1710A KIPAN 21 35122607 35122607 + Missense_Mutation SNP T T C TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 g.chr21:35122607T>C c.506T>C c.(505-507)cTg>cCg p.L169P KIPAN 21 35144369 35144369 + Silent SNP G G C TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr21:35144369G>C c.1047G>C c.(1045-1047)acG>acC p.T349T KIPAN 21 35153771 35153771 + Missense_Mutation SNP C C A TCGA-BP-5201-01A-01D-1429-08 TCGA-BP-5201-11A-01D-1429-08 g.chr21:35153771C>A c.1603C>A c.(1603-1605)Cag>Aag p.Q535K KIPAN 21 35208937 35208937 + Splice_Site SNP G G A TCGA-UZ-A9PV-01A-11D-A42J-10 TCGA-UZ-A9PV-10A-01D-A42M-10 g.chr21:35208937G>A c.e29+1 KIPAN 21 35254745 35254745 + Frame_Shift_Del DEL A A - TCGA-BP-5183-01A-01D-1429-08 TCGA-BP-5183-11A-01D-1429-08 g.chr21:35254745delA c.4540delA c.(4540-4542)aaafs p.K1514fs KIPAN 21 35260567 35260567 + Missense_Mutation SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr21:35260567T>C c.5129T>C c.(5128-5130)gTg>gCg p.V1710A KIRC 21 35122607 35122607 + Missense_Mutation SNP T T C TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 g.chr21:35122607T>C c.506T>C c.(505-507)cTg>cCg p.L169P KIRC 21 35144369 35144369 + Silent SNP G G C TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr21:35144369G>C c.1047G>C c.(1045-1047)acG>acC p.T349T KIRC 21 35153771 35153771 + Missense_Mutation SNP C C A TCGA-BP-5201-01A-01D-1429-08 TCGA-BP-5201-11A-01D-1429-08 g.chr21:35153771C>A c.1603C>A c.(1603-1605)Cag>Aag p.Q535K KIRC 21 35254745 35254745 + Frame_Shift_Del DEL A A - TCGA-BP-5183-01A-01D-1429-08 TCGA-BP-5183-11A-01D-1429-08 g.chr21:35254745delA c.4540delA c.(4540-4542)aaafs p.K1514fs KIRP 21 35208937 35208937 + Splice_Site SNP G G A TCGA-UZ-A9PV-01A-11D-A42J-10 TCGA-UZ-A9PV-10A-01D-A42M-10 g.chr21:35208937G>A c.e29+1 LGG 21 35094910 35094910 + Frame_Shift_Del DEL T T - TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 g.chr21:35094910delT c.139delT c.(139-141)tttfs p.F49fs LGG 21 35140087 35140087 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:35140087C>T c.997C>T c.(997-999)Cca>Tca p.P333S LGG 21 35144467 35144467 + Missense_Mutation SNP G G A TCGA-E1-A7YL-01A-11D-A34A-08 TCGA-E1-A7YL-10A-01D-A34A-08 g.chr21:35144467G>A c.1145G>A c.(1144-1146)cGc>cAc p.R382H LGG 21 35153849 35153849 + Missense_Mutation SNP C C T TCGA-P5-A736-01A-11D-A32B-08 TCGA-P5-A736-10A-01D-A329-08 g.chr21:35153849C>T c.1681C>T c.(1681-1683)Cac>Tac p.H561Y LGG 21 35169735 35169735 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:35169735G>A c.2005G>A c.(2005-2007)Gag>Aag p.E669K LGG 21 35183494 35183494 + Silent SNP G G A TCGA-HT-8114-01A-11D-2395-08 TCGA-HT-8114-10A-01D-2396-08 g.chr21:35183494G>A c.2535G>A c.(2533-2535)acG>acA p.T845T LGG 21 35183494 35183494 + Silent SNP G G A TCGA-QH-A65Z-01A-11D-A29Q-08 TCGA-QH-A65Z-10A-01D-A29Q-08 g.chr21:35183494G>A c.2535G>A c.(2533-2535)acG>acA p.T845T LGG 21 35186340 35186340 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:35186340G>A c.2691G>A c.(2689-2691)acG>acA p.T897T LGG 21 35208937 35208937 + Splice_Site SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:35208937G>A c.e29+1 LGG 21 35237613 35237613 + Frame_Shift_Del DEL C C - TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 g.chr21:35237613delC c.4049delC c.(4048-4050)gccfs p.A1350fs LGG 21 35255925 35255925 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:35255925C>A c.4626C>A c.(4624-4626)atC>atA p.I1542I LIHC 21 35134244 35134244 + Missense_Mutation SNP A A G TCGA-RC-A7SK-01A-11D-A34Z-10 TCGA-RC-A7SK-10A-01D-A34Z-10 g.chr21:35134244A>G c.742A>G c.(742-744)Att>Gtt p.I248V LIHC 21 35140133 35140133 + Splice_Site SNP G G T TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr21:35140133G>T c.e11+1 LIHC 21 35172168 35172168 + Missense_Mutation SNP G G A TCGA-BC-4073-01B-02D-A12Z-10 TCGA-BC-4073-10A-01D-A12Z-10 g.chr21:35172168G>A c.2239G>A c.(2239-2241)Gca>Aca p.A747T LIHC 21 35183471 35183471 + Missense_Mutation SNP G G T TCGA-HP-A5MZ-01A-21D-A27I-10 TCGA-HP-A5MZ-10A-01D-A27I-10 g.chr21:35183471G>T c.2512G>T c.(2512-2514)Gta>Tta p.V838L LIHC 21 35255856 35255856 + Silent SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr21:35255856T>C c.4557T>C c.(4555-4557)ccT>ccC p.P1519P LIHC 21 35258604 35258604 + Silent SNP G G A TCGA-RC-A7S9-01A-11D-A33Q-10 TCGA-RC-A7S9-10A-02D-A33Q-10 g.chr21:35258604G>A c.4857G>A c.(4855-4857)ccG>ccA p.P1619P LUAD 21 35107376 35107376 + Silent SNP A A C TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr21:35107376A>C c.213A>C c.(211-213)ggA>ggC p.G71G LUAD 21 35122620 35122620 + Silent SNP T T C TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr21:35122620T>C c.519T>C c.(517-519)gcT>gcC p.A173A LUAD 21 35124113 35124113 + Splice_Site SNP A A C TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr21:35124113A>C c.e7-1 LUAD 21 35138245 35138245 + Silent SNP C C T TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr21:35138245C>T c.855C>T c.(853-855)ctC>ctT p.L285L LUAD 21 35147373 35147373 + Silent SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr21:35147373G>A c.1557G>A c.(1555-1557)ttG>ttA p.L519L LUAD 21 35147397 35147397 + Silent SNP A A G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 g.chr21:35147397A>G c.1581A>G c.(1579-1581)ctA>ctG p.L527L LUAD 21 35166647 35166647 + Missense_Mutation SNP A A T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr21:35166647A>T c.1827A>T c.(1825-1827)gaA>gaT p.E609D LUAD 21 35166694 35166694 + Missense_Mutation SNP T T C TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr21:35166694T>C c.1874T>C c.(1873-1875)aTg>aCg p.M625T LUAD 21 35169790 35169790 + Missense_Mutation SNP G G T TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chr21:35169790G>T c.2060G>T c.(2059-2061)aGt>aTt p.S687I LUAD 21 35183306 35183306 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr21:35183306G>T c.2347G>T c.(2347-2349)Ggc>Tgc p.G783C LUAD 21 35183319 35183319 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr21:35183319G>C c.2360G>C c.(2359-2361)gGa>gCa p.G787A LUAD 21 35183407 35183407 + Silent SNP G G T TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr21:35183407G>T c.2448G>T c.(2446-2448)gtG>gtT p.V816V LUAD 21 35186367 35186367 + Silent SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr21:35186367G>T c.2718G>T c.(2716-2718)gtG>gtT p.V906V LUAD 21 35190760 35190760 + Missense_Mutation SNP A A G TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 g.chr21:35190760A>G c.2917A>G c.(2917-2919)Ata>Gta p.I973V LUAD 21 35199148 35199148 + Silent SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr21:35199148G>T c.3210G>T c.(3208-3210)ggG>ggT p.G1070G LUAD 21 35208839 35208839 + Silent SNP G G A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr21:35208839G>A c.3564G>A c.(3562-3564)gaG>gaA p.E1188E LUAD 21 35208915 35208915 + Missense_Mutation SNP G G C TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 g.chr21:35208915G>C c.3640G>C c.(3640-3642)Gac>Cac p.D1214H LUAD 21 35229038 35229038 + Splice_Site SNP A A T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr21:35229038A>T c.e30-1 LUAD 21 35229040 35229040 + Splice_Site SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr21:35229040G>T c.3662G>T c.(3661-3663)tGg>tTg p.W1221L LUAD 21 35229122 35229122 + Silent SNP C C T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr21:35229122C>T c.3744C>T c.(3742-3744)acC>acT p.T1248T LUAD 21 35247740 35247740 + Missense_Mutation SNP A A T TCGA-J2-8194-01A-11D-2238-08 TCGA-J2-8194-10A-01D-2238-08 g.chr21:35247740A>T c.4256A>T c.(4255-4257)cAg>cTg p.Q1419L LUAD 21 35254609 35254609 + Missense_Mutation SNP G G C TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr21:35254609G>C c.4404G>C c.(4402-4404)aaG>aaC p.K1468N LUAD 21 35254742 35254742 + Missense_Mutation SNP T T A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr21:35254742T>A c.4537T>A c.(4537-4539)Tat>Aat p.Y1513N LUAD 21 35255959 35255959 + Missense_Mutation SNP G G A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr21:35255959G>A c.4660G>A c.(4660-4662)Gaa>Aaa p.E1554K LUAD 21 35257749 35257749 + Frame_Shift_Del DEL C C - TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr21:35257749delC c.4766delC c.(4765-4767)tccfs p.S1589fs LUAD 21 35260596 35260596 + Missense_Mutation SNP G G A TCGA-44-3919-01A-02D-1458-08 TCGA-44-3919-10A-01D-1458-08 g.chr21:35260596G>A c.5158G>A c.(5158-5160)Gag>Aag p.E1720K LUSC 21 35127600 35127600 + Splice_Site SNP A A T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 g.chr21:35127600A>T c.e8-1 LUSC 21 35140086 35140086 + Silent SNP A A G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr21:35140086A>G c.996A>G c.(994-996)gaA>gaG p.E332E LUSC 21 35144463 35144463 + Nonsense_Mutation SNP G G T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr21:35144463G>T c.1141G>T c.(1141-1143)Gag>Tag p.E381* LUSC 21 35172220 35172220 + Missense_Mutation SNP G G C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr21:35172220G>C c.2291G>C c.(2290-2292)gGa>gCa p.G764A LUSC 21 35183447 35183447 + Missense_Mutation SNP C C T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr21:35183447C>T c.2488C>T c.(2488-2490)Cgt>Tgt p.R830C LUSC 21 35208892 35208892 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr21:35208892C>T c.3617C>T c.(3616-3618)tCc>tTc p.S1206F OV 21 35091159 35091159 + Missense_Mutation SNP G G C TCGA-31-1950-01A-01W-0699-08 TCGA-31-1950-10A-01W-0699-08 g.chr21:35091159G>C c.26G>C c.(25-27)gGt>gCt p.G9A OV 21 35254666 35254666 + Silent SNP C C G TCGA-09-1665-01B-01W-0615-10 TCGA-09-1665-11B-01W-0616-10 g.chr21:35254666C>G c.4461C>G c.(4459-4461)ctC>ctG p.L1487L OV 21 35257411 35257411 + Silent SNP C C T TCGA-04-1519-01A-01W-0615-10 TCGA-04-1519-11A-01W-0615-10 g.chr21:35257411C>T c.4743C>T c.(4741-4743)cgC>cgT p.R1581R PAAD 21 35094941 35094941 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:35094941T>C c.170T>C c.(169-171)gTt>gCt p.V57A PAAD 21 35147045 35147046 + Frame_Shift_Ins INS - - A TCGA-FZ-5923-01A-12D-1609-08 TCGA-FZ-5923-11A-01D-1609-08 g.chr21:35147045_35147046insA c.1318_1319insA c.(1318-1320)gaafs p.E440fs PAAD 21 35191585 35191585 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:35191585C>T c.2974C>T c.(2974-2976)Cga>Tga p.R992* PAAD 21 35202044 35202044 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:35202044C>T c.3346C>T c.(3346-3348)Ctg>Ttg p.L1116L PAAD 21 35208915 35208915 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:35208915G>T c.3640G>T c.(3640-3642)Gac>Tac p.D1214Y PAAD 21 35237530 35237530 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:35237530G>T c.3966G>T c.(3964-3966)caG>caT p.Q1322H PAAD 21 35247768 35247768 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:35247768G>T c.4284G>T c.(4282-4284)gaG>gaT p.E1428D PAAD 21 35254750 35254750 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:35254750G>A c.4545G>A c.(4543-4545)atG>atA p.M1515I PCPG 21 35154325 35154325 + Missense_Mutation SNP C C G TCGA-QR-A6GR-01A-11D-A35D-08 TCGA-QR-A6GR-10A-01D-A35B-08 g.chr21:35154325C>G c.1712C>G c.(1711-1713)gCc>gGc p.A571G PRAD 21 35122567 35122567 + Frame_Shift_Del DEL C C - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr21:35122567delC c.466delC c.(466-468)cccfs p.P157fs PRAD 21 35190641 35190641 + Missense_Mutation SNP A A C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 g.chr21:35190641A>C c.2798A>C c.(2797-2799)aAt>aCt p.N933T PRAD 21 35195922 35195922 + Frame_Shift_Del DEL T T - TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 g.chr21:35195922delT c.3148delT c.(3148-3150)ttcfs p.F1050fs PRAD 21 35237515 35237515 + Silent SNP C C T TCGA-HC-8264-01B-11D-2395-08 TCGA-HC-8264-10A-01D-2395-08 g.chr21:35237515C>T c.3951C>T c.(3949-3951)gaC>gaT p.D1317D PRAD 21 35257765 35257765 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr21:35257765C>T c.4782C>T c.(4780-4782)ggC>ggT p.G1594G READ 21 35140024 35140024 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35140024C>T c.934C>T c.(934-936)Cga>Tga p.R312* READ 21 35144467 35144467 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35144467G>A c.1145G>A c.(1144-1146)cGc>cAc p.R382H READ 21 35147383 35147383 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35147383G>A c.1567G>A c.(1567-1569)Gaa>Aaa p.E523K READ 21 35153769 35153769 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35153769C>A c.1601C>A c.(1600-1602)tCt>tAt p.S534Y READ 21 35154339 35154339 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35154339G>T c.1726G>T c.(1726-1728)Gaa>Taa p.E576* READ 21 35208896 35208896 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35208896T>G c.3621T>G c.(3619-3621)aaT>aaG p.N1207K READ 21 35230996 35230996 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35230996C>A c.3790C>A c.(3790-3792)Caa>Aaa p.Q1264K READ 21 35237600 35237600 + Missense_Mutation SNP A A C TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr21:35237600A>C c.4036A>C c.(4036-4038)Aag>Cag p.K1346Q READ 21 35260545 35260545 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:35260545G>A c.5107G>A c.(5107-5109)Gaa>Aaa p.E1703K SARC 21 35195916 35195916 + Missense_Mutation SNP G G A TCGA-DX-A1KW-01A-22D-A24N-09 TCGA-DX-A1KW-10A-01D-A24N-09 g.chr21:35195916G>A c.3142G>A c.(3142-3144)Gga>Aga p.G1048R SKCM 21 35094928 35094928 + Missense_Mutation SNP T T A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr21:35094928T>A c.157T>A c.(157-159)Tta>Ata p.L53I SKCM 21 35122509 35122509 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr21:35122509C>T c.408C>T c.(406-408)tcC>tcT p.S136S SKCM 21 35122567 35122567 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr21:35122567C>T c.466C>T c.(466-468)Ccc>Tcc p.P156S SKCM 21 35138184 35138184 + Missense_Mutation SNP T T C TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr21:35138184T>C c.794T>C c.(793-795)cTt>cCt p.L265P SKCM 21 35140024 35140024 + Nonsense_Mutation SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr21:35140024C>T c.934C>T c.(934-936)Cga>Tga p.R312* SKCM 21 35166652 35166652 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr21:35166652G>A c.1832G>A c.(1831-1833)aGa>aAa p.R611K SKCM 21 35169762 35169762 + Missense_Mutation SNP G G A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr21:35169762G>A c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K SKCM 21 35183372 35183372 + Missense_Mutation SNP C C T TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr21:35183372C>T c.2413C>T c.(2413-2415)Cca>Tca p.P805S SKCM 21 35183432 35183432 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:35183432C>T c.2473C>T c.(2473-2475)Ccc>Tcc p.P825S SKCM 21 35186232 35186232 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr21:35186232G>A c.2583G>A c.(2581-2583)acG>acA p.T861T SKCM 21 35186362 35186362 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr21:35186362C>T c.2713C>T c.(2713-2715)Cct>Tct p.P905S SKCM 21 35206644 35206644 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr21:35206644C>T c.3385C>T c.(3385-3387)Cca>Tca p.P1129S SKCM 21 35237482 35237482 + Silent SNP C C G TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr21:35237482C>G c.3918C>G c.(3916-3918)tcC>tcG p.S1306S SKCM 21 35237568 35237568 + Missense_Mutation SNP G G C TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr21:35237568G>C c.4004G>C c.(4003-4005)cGc>cCc p.R1335P SKCM 21 35247714 35247714 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr21:35247714G>A c.4230G>A c.(4228-4230)ctG>ctA p.L1410L SKCM 21 35247748 35247748 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:35247748G>A c.4264G>A c.(4264-4266)Gaa>Aaa p.E1422K SKCM 21 35258600 35258600 + Missense_Mutation SNP A A G TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr21:35258600A>G c.4853A>G c.(4852-4854)aAc>aGc p.N1618S SKCM 21 35258649 35258649 + Silent SNP G G A TCGA-EE-A3J4-06A-11D-A20D-08 TCGA-EE-A3J4-10A-01D-A20D-08 g.chr21:35258649G>A c.4902G>A c.(4900-4902)acG>acA p.T1634T SKCM 21 35260506 35260506 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr21:35260506G>A c.5068G>A c.(5068-5070)Ggc>Agc p.G1690S SKCM 21 35260578 35260578 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr21:35260578G>A c.5140G>A c.(5140-5142)Gac>Aac p.D1714N

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 21 35183358 35183358 single base substitution A G 3_prime_UTR_variant BLCA-CN 21 35183358 35183358 single base substitution A G missense_variant Y34C 101A>G BLCA-CN 21 35183358 35183358 single base substitution A G missense_variant Y758C 2273A>G BLCA-CN 21 35183358 35183358 single base substitution A G missense_variant Y795C 2384A>G BLCA-CN 21 35183358 35183358 single base substitution A G missense_variant Y800C 2399A>G BLCA-CN 21 35183358 35183358 single base substitution A G upstream_gene_variant BLCA-CN 21 35258681 35258681 single base substitution C T 3_prime_UTR_variant BLCA-CN 21 35258681 35258681 single base substitution C T downstream_gene_variant BLCA-CN 21 35258681 35258681 single base substitution C T missense_variant S1584F 4751C>T BLCA-CN 21 35258681 35258681 single base substitution C T missense_variant S1640F 4919C>T BLCA-CN 21 35258681 35258681 single base substitution C T missense_variant S1645F 4934C>T BLCA-CN 21 35258761 35258761 single base substitution G A 3_prime_UTR_variant BLCA-CN 21 35258761 35258761 single base substitution G A downstream_gene_variant BLCA-CN 21 35258761 35258761 single base substitution G A missense_variant D1611N 4831G>A BLCA-CN 21 35258761 35258761 single base substitution G A missense_variant D1667N 4999G>A BLCA-CN 21 35258761 35258761 single base substitution G A missense_variant D1672N 5014G>A BLCA-US 21 35144562 35144562 single base substitution G C exon_variant BLCA-US 21 35144562 35144562 single base substitution G C missense_variant E354Q 1060G>C BLCA-US 21 35144562 35144562 single base substitution G C missense_variant E377Q 1129G>C BLCA-US 21 35144562 35144562 single base substitution G C missense_variant E414Q 1240G>C BLCA-US 21 35144562 35144562 single base substitution G C upstream_gene_variant BLCA-US 21 35147080 35147080 single base substitution G T downstream_gene_variant BLCA-US 21 35147080 35147080 single base substitution G T exon_variant BLCA-US 21 35147080 35147080 single base substitution G T synonymous_variant R414R 1242G>T BLCA-US 21 35147080 35147080 single base substitution G T synonymous_variant R451R 1353G>T BLCA-US 21 35147174 35147174 single base substitution G C downstream_gene_variant BLCA-US 21 35147174 35147174 single base substitution G C exon_variant BLCA-US 21 35147174 35147174 single base substitution G C missense_variant E446Q 1336G>C BLCA-US 21 35147174 35147174 single base substitution G C missense_variant E483Q 1447G>C BLCA-US 21 35153820 35153820 single base substitution A G missense_variant Q514R 1541A>G BLCA-US 21 35153820 35153820 single base substitution A G missense_variant Q551R 1652A>G BLCA-US 21 35166747 35166747 single base substitution G C missense_variant E606Q 1816G>C BLCA-US 21 35166747 35166747 single base substitution G C missense_variant E643Q 1927G>C BLCA-US 21 35166747 35166747 single base substitution G C upstream_gene_variant BLCA-US 21 35183344 35183344 single base substitution G A 3_prime_UTR_variant BLCA-US 21 35183344 35183344 single base substitution G A stop_gained W29* 87G>A BLCA-US 21 35183344 35183344 single base substitution G A stop_gained W753* 2259G>A BLCA-US 21 35183344 35183344 single base substitution G A stop_gained W790* 2370G>A BLCA-US 21 35183344 35183344 single base substitution G A stop_gained W795* 2385G>A BLCA-US 21 35183344 35183344 single base substitution G A upstream_gene_variant BLCA-US 21 35255954 35255954 single base substitution G A 3_prime_UTR_variant BLCA-US 21 35255954 35255954 single base substitution G A intron_variant BLCA-US 21 35255954 35255954 single base substitution G A missense_variant R1491Q 4472G>A BLCA-US 21 35255954 35255954 single base substitution G A missense_variant R1547Q 4640G>A BLCA-US 21 35255954 35255954 single base substitution G A missense_variant R1552Q 4655G>A BLCA-US 21 35255954 35255954 single base substitution G A missense_variant R231Q 692G>A BLCA-US 21 35255954 35255954 single base substitution G A missense_variant R88Q 263G>A BLCA-US 21 35276300 35276300 single base substitution T A downstream_gene_variant BOCA-FR 21 35107169 35107169 single base substitution A G intron_variant BOCA-FR 21 35107169 35107169 single base substitution A G upstream_gene_variant BOCA-FR 21 35161721 35161721 single base substitution G C intron_variant BOCA-FR 21 35224846 35224846 single base substitution T C intron_variant BOCA-UK 21 35093522 35093522 single base substitution C T exon_variant BOCA-UK 21 35093522 35093522 single base substitution C T missense_variant A23V 68C>T BRCA-EU 21 35011328 35011328 single base substitution C G upstream_gene_variant BRCA-EU 21 35013662 35013662 single base substitution G A upstream_gene_variant BRCA-EU 21 35014035 35014035 single base substitution C G upstream_gene_variant BRCA-EU 21 35014202 35014202 single base substitution C A upstream_gene_variant BRCA-EU 21 35014415 35014415 single base substitution C T upstream_gene_variant BRCA-EU 21 35014417 35014417 single base substitution C T upstream_gene_variant BRCA-EU 21 35017971 35017971 single base substitution A T intron_variant BRCA-EU 21 35018230 35018230 single base substitution G A intron_variant BRCA-EU 21 35018646 35018646 single base substitution C T intron_variant BRCA-EU 21 35019138 35019138 deletion of <=200bp A - intron_variant BRCA-EU 21 35021926 35021926 single base substitution G C intron_variant BRCA-EU 21 35022630 35022630 single base substitution C T intron_variant BRCA-EU 21 35024769 35024769 single base substitution G C intron_variant BRCA-EU 21 35025044 35025044 single base substitution A T intron_variant BRCA-EU 21 35026930 35026930 single base substitution C A intron_variant BRCA-EU 21 35028274 35028274 single base substitution G C intron_variant BRCA-EU 21 35028833 35028833 single base substitution A T intron_variant BRCA-EU 21 35030697 35030697 single base substitution T A intron_variant BRCA-EU 21 35032196 35032196 deletion of <=200bp A - intron_variant BRCA-EU 21 35032234 35032234 single base substitution C G intron_variant BRCA-EU 21 35033516 35033516 single base substitution G A intron_variant BRCA-EU 21 35035085 35035085 single base substitution G A intron_variant BRCA-EU 21 35036149 35036149 single base substitution C T intron_variant BRCA-EU 21 35036525 35036525 single base substitution C G intron_variant BRCA-EU 21 35037388 35037388 single base substitution G C intron_variant BRCA-EU 21 35037569 35037569 insertion of <=200bp - A intron_variant BRCA-EU 21 35037770 35037770 deletion of <=200bp T - intron_variant BRCA-EU 21 35038043 35038043 single base substitution C G intron_variant BRCA-EU 21 35038505 35038505 single base substitution G A intron_variant BRCA-EU 21 35038630 35038630 single base substitution T C intron_variant BRCA-EU 21 35040135 35040135 single base substitution A G intron_variant BRCA-EU 21 35040512 35040512 single base substitution C T intron_variant BRCA-EU 21 35040563 35040563 single base substitution G C intron_variant BRCA-EU 21 35040917 35040917 single base substitution G C intron_variant BRCA-EU 21 35041719 35041719 single base substitution G C intron_variant BRCA-EU 21 35042164 35042164 single base substitution G A intron_variant BRCA-EU 21 35044212 35044212 deletion of <=200bp T - intron_variant BRCA-EU 21 35047112 35047112 single base substitution C G intron_variant BRCA-EU 21 35047706 35047706 deletion of <=200bp A - intron_variant BRCA-EU 21 35048599 35048599 deletion of <=200bp T - intron_variant BRCA-EU 21 35049077 35049077 single base substitution C T intron_variant BRCA-EU 21 35050602 35050602 single base substitution C A intron_variant BRCA-EU 21 35051996 35051996 single base substitution C A intron_variant BRCA-EU 21 35054632 35054632 single base substitution C T intron_variant BRCA-EU 21 35054927 35054927 single base substitution G A intron_variant BRCA-EU 21 35058687 35058687 insertion of <=200bp - T intron_variant BRCA-EU 21 35059156 35059156 single base substitution T G intron_variant BRCA-EU 21 35059160 35059160 single base substitution C T intron_variant BRCA-EU 21 35061116 35061116 single base substitution T C intron_variant BRCA-EU 21 35063183 35063183 single base substitution C A intron_variant BRCA-EU 21 35064446 35064446 single base substitution C T intron_variant BRCA-EU 21 35065769 35065771 deletion of <=200bp CTC - intron_variant BRCA-EU 21 35067057 35067057 single base substitution G A intron_variant BRCA-EU 21 35069023 35069023 single base substitution C T intron_variant BRCA-EU 21 35069113 35069113 single base substitution C G intron_variant BRCA-EU 21 35069242 35069242 single base substitution A G intron_variant BRCA-EU 21 35069768 35069768 single base substitution A G intron_variant BRCA-EU 21 35070054 35070054 single base substitution C A intron_variant BRCA-EU 21 35070540 35070540 single base substitution C T intron_variant BRCA-EU 21 35071642 35071642 single base substitution A G intron_variant BRCA-EU 21 35072395 35072395 deletion of <=200bp T - intron_variant BRCA-EU 21 35072499 35072499 single base substitution C G intron_variant BRCA-EU 21 35072813 35072813 single base substitution G A intron_variant BRCA-EU 21 35074153 35074153 single base substitution G C intron_variant BRCA-EU 21 35074170 35074170 single base substitution C T intron_variant BRCA-EU 21 35074663 35074663 single base substitution C G intron_variant BRCA-EU 21 35076235 35076235 single base substitution G A intron_variant BRCA-EU 21 35078293 35078293 single base substitution A G intron_variant BRCA-EU 21 35078520 35078520 single base substitution C T intron_variant BRCA-EU 21 35079212 35079212 single base substitution G A intron_variant BRCA-EU 21 35080492 35080492 single base substitution C T intron_variant BRCA-EU 21 35080736 35080736 single base substitution C A intron_variant BRCA-EU 21 35081029 35081029 single base substitution G C intron_variant BRCA-EU 21 35081390 35081390 single base substitution T A intron_variant BRCA-EU 21 35082258 35082258 single base substitution A T intron_variant BRCA-EU 21 35082705 35082705 single base substitution G A intron_variant BRCA-EU 21 35083007 35083007 deletion of <=200bp T - intron_variant BRCA-EU 21 35083603 35083603 single base substitution A G intron_variant BRCA-EU 21 35083850 35083850 insertion of <=200bp - T intron_variant BRCA-EU 21 35084727 35084727 single base substitution C T intron_variant BRCA-EU 21 35089220 35089220 single base substitution A G intron_variant BRCA-EU 21 35089220 35089220 single base substitution A G upstream_gene_variant BRCA-EU 21 35089405 35089405 single base substitution G C intron_variant BRCA-EU 21 35089405 35089405 single base substitution G C upstream_gene_variant BRCA-EU 21 35090201 35090201 single base substitution G C intron_variant BRCA-EU 21 35090201 35090201 single base substitution G C upstream_gene_variant BRCA-EU 21 35090455 35090455 single base substitution A G intron_variant BRCA-EU 21 35090455 35090455 single base substitution A G upstream_gene_variant BRCA-EU 21 35090779 35090779 single base substitution G T intron_variant BRCA-EU 21 35090779 35090779 single base substitution G T upstream_gene_variant BRCA-EU 21 35090878 35090878 deletion of <=200bp T - intron_variant BRCA-EU 21 35090878 35090878 deletion of <=200bp T - upstream_gene_variant BRCA-EU 21 35091129 35091129 single base substitution G T 5_prime_UTR_variant BRCA-EU 21 35091129 35091129 single base substitution G T exon_variant BRCA-EU 21 35091129 35091129 single base substitution G T upstream_gene_variant BRCA-EU 21 35092667 35092667 single base substitution T G intron_variant BRCA-EU 21 35092871 35092871 deletion of <=200bp T - intron_variant BRCA-EU 21 35093043 35093043 single base substitution C T intron_variant BRCA-EU 21 35093651 35093651 single base substitution C T intron_variant BRCA-EU 21 35096644 35096689 deletion of <=200bp AAGATGCTCAGATGAAGAAACAGCCTGCAAGAAAGAAGTCATGTGC - downstream_gene_variant BRCA-EU 21 35096644 35096689 deletion of <=200bp AAGATGCTCAGATGAAGAAACAGCCTGCAAGAAAGAAGTCATGTGC - intron_variant BRCA-EU 21 35097005 35097005 single base substitution G A downstream_gene_variant BRCA-EU 21 35097005 35097005 single base substitution G A intron_variant BRCA-EU 21 35097049 35097049 single base substitution A G downstream_gene_variant BRCA-EU 21 35097049 35097049 single base substitution A G intron_variant BRCA-EU 21 35097557 35097557 single base substitution C T downstream_gene_variant BRCA-EU 21 35097557 35097557 single base substitution C T intron_variant BRCA-EU 21 35099229 35099229 single base substitution G A downstream_gene_variant BRCA-EU 21 35099229 35099229 single base substitution G A intron_variant BRCA-EU 21 35101265 35101265 single base substitution A T intron_variant BRCA-EU 21 35101391 35101391 single base substitution C T intron_variant BRCA-EU 21 35102893 35102893 single base substitution G C intron_variant BRCA-EU 21 35102893 35102893 single base substitution G C upstream_gene_variant BRCA-EU 21 35103663 35103663 single base substitution C T intron_variant BRCA-EU 21 35103663 35103663 single base substitution C T upstream_gene_variant BRCA-EU 21 35104238 35104238 single base substitution G T intron_variant BRCA-EU 21 35104238 35104238 single base substitution G T upstream_gene_variant BRCA-EU 21 35104825 35104825 single base substitution C G intron_variant BRCA-EU 21 35104825 35104825 single base substitution C G upstream_gene_variant BRCA-EU 21 35106739 35106739 single base substitution G A intron_variant BRCA-EU 21 35106739 35106739 single base substitution G A upstream_gene_variant BRCA-EU 21 35106896 35106896 single base substitution C G intron_variant BRCA-EU 21 35106896 35106896 single base substitution C G upstream_gene_variant BRCA-EU 21 35109232 35109232 single base substitution G C downstream_gene_variant BRCA-EU 21 35109232 35109232 single base substitution G C intron_variant BRCA-EU 21 35109932 35109932 single base substitution G A downstream_gene_variant BRCA-EU 21 35109932 35109932 single base substitution G A intron_variant BRCA-EU 21 35110050 35110050 single base substitution T C downstream_gene_variant BRCA-EU 21 35110050 35110050 single base substitution T C intron_variant BRCA-EU 21 35111626 35111626 single base substitution G A downstream_gene_variant BRCA-EU 21 35111626 35111626 single base substitution G A intron_variant BRCA-EU 21 35112726 35112726 single base substitution G C downstream_gene_variant BRCA-EU 21 35112726 35112726 single base substitution G C intron_variant BRCA-EU 21 35113231 35113231 single base substitution G A intron_variant BRCA-EU 21 35113786 35113786 single base substitution C T intron_variant BRCA-EU 21 35114508 35114508 single base substitution T C intron_variant BRCA-EU 21 35115469 35115469 single base substitution T A intron_variant BRCA-EU 21 35115602 35115602 single base substitution C G intron_variant BRCA-EU 21 35116158 35116158 single base substitution C G intron_variant BRCA-EU 21 35116314 35116314 single base substitution A T intron_variant BRCA-EU 21 35116797 35116797 single base substitution G A intron_variant BRCA-EU 21 35118769 35118769 single base substitution G C intron_variant BRCA-EU 21 35119360 35119360 single base substitution G A intron_variant BRCA-EU 21 35120371 35120371 single base substitution G C intron_variant BRCA-EU 21 35121595 35121595 single base substitution G T intron_variant BRCA-EU 21 35121595 35121595 single base substitution G T upstream_gene_variant BRCA-EU 21 35121596 35121596 single base substitution G T intron_variant BRCA-EU 21 35121596 35121596 single base substitution G T upstream_gene_variant BRCA-EU 21 35121618 35121618 single base substitution C T intron_variant BRCA-EU 21 35121618 35121618 single base substitution C T upstream_gene_variant BRCA-EU 21 35121663 35121663 single base substitution C T intron_variant BRCA-EU 21 35121663 35121663 single base substitution C T upstream_gene_variant BRCA-EU 21 35122567 35122567 deletion of <=200bp C - frameshift_variant P119 BRCA-EU 21 35122567 35122567 deletion of <=200bp C - frameshift_variant P156 BRCA-EU 21 35122567 35122567 deletion of <=200bp C - intron_variant BRCA-EU 21 35122567 35122567 deletion of <=200bp C - upstream_gene_variant BRCA-EU 21 35123413 35123413 single base substitution T G intron_variant BRCA-EU 21 35123413 35123413 single base substitution T G upstream_gene_variant BRCA-EU 21 35124201 35124201 single base substitution G C missense_variant D145H 433G>C BRCA-EU 21 35124201 35124201 single base substitution G C missense_variant D168H 502G>C BRCA-EU 21 35124201 35124201 single base substitution G C missense_variant D205H 613G>C BRCA-EU 21 35124201 35124201 single base substitution G C upstream_gene_variant BRCA-EU 21 35124334 35124334 single base substitution G C intron_variant BRCA-EU 21 35124334 35124334 single base substitution G C upstream_gene_variant BRCA-EU 21 35124405 35124405 single base substitution G C intron_variant BRCA-EU 21 35124405 35124405 single base substitution G C upstream_gene_variant BRCA-EU 21 35124449 35124449 single base substitution T A intron_variant BRCA-EU 21 35124449 35124449 single base substitution T A upstream_gene_variant BRCA-EU 21 35124460 35124460 single base substitution T A intron_variant BRCA-EU 21 35124460 35124460 single base substitution T A upstream_gene_variant BRCA-EU 21 35126742 35126742 single base substitution G T intron_variant BRCA-EU 21 35127253 35127253 single base substitution G C intron_variant BRCA-EU 21 35127659 35127659 single base substitution A G exon_variant BRCA-EU 21 35127659 35127659 single base substitution A G synonymous_variant Q167Q 501A>G BRCA-EU 21 35127659 35127659 single base substitution A G synonymous_variant Q190Q 570A>G BRCA-EU 21 35127659 35127659 single base substitution A G synonymous_variant Q227Q 681A>G BRCA-EU 21 35128112 35128112 single base substitution C G intron_variant BRCA-EU 21 35128844 35128844 single base substitution A C intron_variant BRCA-EU 21 35133827 35133827 single base substitution G A intron_variant BRCA-EU 21 35134383 35134383 single base substitution G A intron_variant BRCA-EU 21 35134994 35134994 single base substitution A G intron_variant BRCA-EU 21 35135243 35135243 single base substitution C T intron_variant BRCA-EU 21 35135247 35135247 single base substitution G A intron_variant BRCA-EU 21 35135978 35135978 single base substitution C G intron_variant BRCA-EU 21 35136480 35136480 single base substitution T C intron_variant BRCA-EU 21 35136554 35136554 single base substitution C A intron_variant BRCA-EU 21 35137869 35137869 single base substitution T A intron_variant BRCA-EU 21 35140334 35140334 single base substitution C T intron_variant BRCA-EU 21 35140799 35140799 single base substitution G A intron_variant BRCA-EU 21 35141517 35141517 single base substitution C T intron_variant BRCA-EU 21 35142847 35142847 single base substitution C A intron_variant BRCA-EU 21 35142847 35142847 single base substitution C A upstream_gene_variant BRCA-EU 21 35143685 35143685 single base substitution A G intron_variant BRCA-EU 21 35143685 35143685 single base substitution A G upstream_gene_variant BRCA-EU 21 35145347 35145347 single base substitution C T downstream_gene_variant BRCA-EU 21 35145347 35145347 single base substitution C T intron_variant BRCA-EU 21 35145347 35145347 single base substitution C T upstream_gene_variant BRCA-EU 21 35148300 35148300 single base substitution T G downstream_gene_variant BRCA-EU 21 35148300 35148300 single base substitution T G intron_variant BRCA-EU 21 35149771 35149771 single base substitution T C downstream_gene_variant BRCA-EU 21 35149771 35149771 single base substitution T C intron_variant BRCA-EU 21 35151991 35151991 single base substitution C A downstream_gene_variant BRCA-EU 21 35151991 35151991 single base substitution C A intron_variant BRCA-EU 21 35152267 35152267 single base substitution C G downstream_gene_variant BRCA-EU 21 35152267 35152267 single base substitution C G intron_variant BRCA-EU 21 35152765 35152765 insertion of <=200bp - T intron_variant BRCA-EU 21 35153806 35153806 single base substitution G C missense_variant Q509H 1527G>C BRCA-EU 21 35153806 35153806 single base substitution G C missense_variant Q546H 1638G>C BRCA-EU 21 35154307 35154307 single base substitution T C missense_variant L528P 1583T>C BRCA-EU 21 35154307 35154307 single base substitution T C missense_variant L565P 1694T>C BRCA-EU 21 35156500 35156500 single base substitution G A intron_variant BRCA-EU 21 35156807 35156807 insertion of <=200bp - A intron_variant BRCA-EU 21 35158172 35158172 single base substitution C G intron_variant BRCA-EU 21 35158229 35158229 single base substitution C G intron_variant BRCA-EU 21 35160994 35160994 single base substitution G A intron_variant BRCA-EU 21 35161978 35161978 single base substitution C T intron_variant BRCA-EU 21 35162894 35162894 deletion of <=200bp A - intron_variant BRCA-EU 21 35163597 35163597 single base substitution C G intron_variant BRCA-EU 21 35163826 35163826 single base substitution G A intron_variant BRCA-EU 21 35164568 35164568 single base substitution G A intron_variant BRCA-EU 21 35166131 35166131 single base substitution G C intron_variant BRCA-EU 21 35166131 35166131 single base substitution G C upstream_gene_variant BRCA-EU 21 35167130 35167130 single base substitution G T intron_variant BRCA-EU 21 35167130 35167130 single base substitution G T upstream_gene_variant BRCA-EU 21 35167704 35167704 single base substitution G T intron_variant BRCA-EU 21 35167704 35167704 single base substitution G T upstream_gene_variant BRCA-EU 21 35169707 35169707 single base substitution G T missense_variant Q622H 1866G>T BRCA-EU 21 35169707 35169707 single base substitution G T missense_variant Q659H 1977G>T BRCA-EU 21 35169707 35169707 single base substitution G T upstream_gene_variant BRCA-EU 21 35169919 35169919 single base substitution G A intron_variant BRCA-EU 21 35169919 35169919 single base substitution G A splice_region_variant BRCA-EU 21 35169919 35169919 single base substitution G A upstream_gene_variant BRCA-EU 21 35170722 35170722 single base substitution T A intron_variant BRCA-EU 21 35170722 35170722 single base substitution T A upstream_gene_variant BRCA-EU 21 35172485 35172485 single base substitution T C intron_variant BRCA-EU 21 35173381 35173381 single base substitution C T intron_variant BRCA-EU 21 35173720 35173720 single base substitution C T intron_variant BRCA-EU 21 35173802 35173802 insertion of <=200bp - T intron_variant BRCA-EU 21 35174286 35174286 single base substitution G A intron_variant BRCA-EU 21 35175205 35175205 single base substitution T C intron_variant BRCA-EU 21 35176265 35176265 single base substitution G C intron_variant BRCA-EU 21 35176560 35176560 deletion of <=200bp A - intron_variant BRCA-EU 21 35177159 35177159 deletion of <=200bp A - intron_variant BRCA-EU 21 35178006 35178006 single base substitution C T intron_variant BRCA-EU 21 35179758 35179758 single base substitution C A intron_variant BRCA-EU 21 35179758 35179758 single base substitution C A upstream_gene_variant BRCA-EU 21 35179783 35179783 single base substitution A T intron_variant BRCA-EU 21 35179783 35179783 single base substitution A T upstream_gene_variant BRCA-EU 21 35183530 35183530 single base substitution C T intron_variant BRCA-EU 21 35183530 35183530 single base substitution C T splice_region_variant BRCA-EU 21 35183895 35183895 deletion of <=200bp T - intron_variant BRCA-EU 21 35183911 35183911 single base substitution G A intron_variant BRCA-EU 21 35184281 35184281 single base substitution G C intron_variant BRCA-EU 21 35186434 35186434 single base substitution C T exon_variant BRCA-EU 21 35186434 35186434 single base substitution C T intron_variant BRCA-EU 21 35186434 35186434 single base substitution C T upstream_gene_variant BRCA-EU 21 35186698 35186698 single base substitution G A exon_variant BRCA-EU 21 35186698 35186698 single base substitution G A intron_variant BRCA-EU 21 35186698 35186698 single base substitution G A upstream_gene_variant BRCA-EU 21 35186777 35186777 deletion of <=200bp T - exon_variant BRCA-EU 21 35186777 35186777 deletion of <=200bp T - intron_variant BRCA-EU 21 35186777 35186777 deletion of <=200bp T - upstream_gene_variant BRCA-EU 21 35187881 35187881 single base substitution C T downstream_gene_variant BRCA-EU 21 35187881 35187881 single base substitution C T intron_variant BRCA-EU 21 35187881 35187881 single base substitution C T upstream_gene_variant BRCA-EU 21 35188874 35188874 single base substitution G C downstream_gene_variant BRCA-EU 21 35188874 35188874 single base substitution G C intron_variant BRCA-EU 21 35188874 35188874 single base substitution G C upstream_gene_variant BRCA-EU 21 35188922 35188922 single base substitution G C downstream_gene_variant BRCA-EU 21 35188922 35188922 single base substitution G C intron_variant BRCA-EU 21 35188922 35188922 single base substitution G C upstream_gene_variant BRCA-EU 21 35189760 35189760 single base substitution G A downstream_gene_variant BRCA-EU 21 35189760 35189760 single base substitution G A intron_variant BRCA-EU 21 35189760 35189760 single base substitution G A missense_variant G219S 655G>A BRCA-EU 21 35189760 35189760 single base substitution G A missense_variant G980S 2938G>A BRCA-EU 21 35189760 35189760 single base substitution G A upstream_gene_variant BRCA-EU 21 35190723 35190723 single base substitution G C downstream_gene_variant BRCA-EU 21 35190723 35190723 single base substitution G C exon_variant BRCA-EU 21 35190723 35190723 single base substitution G C intron_variant BRCA-EU 21 35190723 35190723 single base substitution G C missense_variant W918C 2754G>C BRCA-EU 21 35190723 35190723 single base substitution G C missense_variant W955C 2865G>C BRCA-EU 21 35190723 35190723 single base substitution G C missense_variant W960C 2880G>C BRCA-EU 21 35190723 35190723 single base substitution G C upstream_gene_variant BRCA-EU 21 35193070 35193070 single base substitution A C downstream_gene_variant BRCA-EU 21 35193070 35193070 single base substitution A C intron_variant BRCA-EU 21 35195954 35195954 single base substitution A G exon_variant BRCA-EU 21 35195954 35195954 single base substitution A G intron_variant BRCA-EU 21 35195954 35195954 single base substitution A G synonymous_variant S1018S 3054A>G BRCA-EU 21 35195954 35195954 single base substitution A G synonymous_variant S1055S 3165A>G BRCA-EU 21 35195954 35195954 single base substitution A G synonymous_variant S1060S 3180A>G BRCA-EU 21 35197635 35197635 deletion of <=200bp A - intron_variant BRCA-EU 21 35197635 35197635 deletion of <=200bp A - upstream_gene_variant BRCA-EU 21 35198114 35198114 single base substitution A G intron_variant BRCA-EU 21 35198114 35198114 single base substitution A G upstream_gene_variant BRCA-EU 21 35198391 35198391 single base substitution G C intron_variant BRCA-EU 21 35198391 35198391 single base substitution G C upstream_gene_variant BRCA-EU 21 35198428 35198428 single base substitution G C intron_variant BRCA-EU 21 35198428 35198428 single base substitution G C upstream_gene_variant BRCA-EU 21 35199067 35199067 single base substitution A C intron_variant BRCA-EU 21 35199067 35199067 single base substitution A C upstream_gene_variant BRCA-EU 21 35199430 35199430 single base substitution A C intron_variant BRCA-EU 21 35199430 35199430 single base substitution A C upstream_gene_variant BRCA-EU 21 35199839 35199839 single base substitution C T intron_variant BRCA-EU 21 35199839 35199839 single base substitution C T upstream_gene_variant BRCA-EU 21 35200840 35200840 single base substitution T C intron_variant BRCA-EU 21 35200840 35200840 single base substitution T C upstream_gene_variant BRCA-EU 21 35200989 35200989 single base substitution C G intron_variant BRCA-EU 21 35200989 35200989 single base substitution C G upstream_gene_variant BRCA-EU 21 35203204 35203204 insertion of <=200bp - G downstream_gene_variant BRCA-EU 21 35203204 35203204 insertion of <=200bp - G intron_variant BRCA-EU 21 35203206 35203206 single base substitution G C downstream_gene_variant BRCA-EU 21 35203206 35203206 single base substitution G C intron_variant BRCA-EU 21 35205089 35205089 single base substitution C G downstream_gene_variant BRCA-EU 21 35205089 35205089 single base substitution C G intron_variant BRCA-EU 21 35205709 35205709 single base substitution T C downstream_gene_variant BRCA-EU 21 35205709 35205709 single base substitution T C intron_variant BRCA-EU 21 35206191 35206191 single base substitution A G downstream_gene_variant BRCA-EU 21 35206191 35206191 single base substitution A G intron_variant BRCA-EU 21 35208423 35208423 single base substitution C A downstream_gene_variant BRCA-EU 21 35208423 35208423 single base substitution C A intron_variant BRCA-EU 21 35208620 35208620 single base substitution C A downstream_gene_variant BRCA-EU 21 35208620 35208620 single base substitution C A intron_variant BRCA-EU 21 35209309 35209309 deletion of <=200bp C - 3_prime_UTR_variant BRCA-EU 21 35209309 35209309 deletion of <=200bp C - downstream_gene_variant BRCA-EU 21 35209309 35209309 deletion of <=200bp C - exon_variant BRCA-EU 21 35209309 35209309 deletion of <=200bp C - intron_variant BRCA-EU 21 35209429 35209429 single base substitution A C 3_prime_UTR_variant BRCA-EU 21 35209429 35209429 single base substitution A C downstream_gene_variant BRCA-EU 21 35209429 35209429 single base substitution A C intron_variant BRCA-EU 21 35210379 35210379 single base substitution T A 3_prime_UTR_variant BRCA-EU 21 35210379 35210379 single base substitution T A downstream_gene_variant BRCA-EU 21 35210379 35210379 single base substitution T A intron_variant BRCA-EU 21 35210581 35210581 single base substitution C T 3_prime_UTR_variant BRCA-EU 21 35210581 35210581 single base substitution C T downstream_gene_variant BRCA-EU 21 35210581 35210581 single base substitution C T intron_variant BRCA-EU 21 35211038 35211038 single base substitution G A downstream_gene_variant BRCA-EU 21 35211038 35211038 single base substitution G A intron_variant BRCA-EU 21 35211961 35211962 deletion of <=200bp GG - downstream_gene_variant BRCA-EU 21 35211961 35211962 deletion of <=200bp GG - intron_variant BRCA-EU 21 35212563 35212566 deletion of <=200bp TCTT - downstream_gene_variant BRCA-EU 21 35212563 35212566 deletion of <=200bp TCTT - intron_variant BRCA-EU 21 35213333 35213333 insertion of <=200bp - C downstream_gene_variant BRCA-EU 21 35213333 35213333 insertion of <=200bp - C intron_variant BRCA-EU 21 35213790 35213792 deletion of <=200bp GAG - downstream_gene_variant BRCA-EU 21 35213790 35213792 deletion of <=200bp GAG - intron_variant BRCA-EU 21 35214971 35214971 single base substitution G C downstream_gene_variant BRCA-EU 21 35214971 35214971 single base substitution G C intron_variant BRCA-EU 21 35215274 35215274 single base substitution C T downstream_gene_variant BRCA-EU 21 35215274 35215274 single base substitution C T intron_variant BRCA-EU 21 35219110 35219110 single base substitution C A intron_variant BRCA-EU 21 35220258 35220258 single base substitution G A intron_variant BRCA-EU 21 35220703 35220703 single base substitution T C intron_variant BRCA-EU 21 35220795 35220795 single base substitution G C intron_variant BRCA-EU 21 35220958 35220958 single base substitution G C intron_variant BRCA-EU 21 35223625 35223625 single base substitution T G intron_variant BRCA-EU 21 35226677 35226677 single base substitution C T intron_variant BRCA-EU 21 35226677 35226677 single base substitution C T upstream_gene_variant BRCA-EU 21 35226753 35226753 single base substitution G C intron_variant BRCA-EU 21 35226753 35226753 single base substitution G C upstream_gene_variant BRCA-EU 21 35226757 35226757 single base substitution G A intron_variant BRCA-EU 21 35226757 35226757 single base substitution G A upstream_gene_variant BRCA-EU 21 35227102 35227102 single base substitution C T intron_variant BRCA-EU 21 35227102 35227102 single base substitution C T upstream_gene_variant BRCA-EU 21 35227224 35227224 single base substitution G C intron_variant BRCA-EU 21 35227224 35227224 single base substitution G C upstream_gene_variant BRCA-EU 21 35228763 35228763 single base substitution C G intron_variant BRCA-EU 21 35228763 35228763 single base substitution C G upstream_gene_variant BRCA-EU 21 35229121 35229121 single base substitution C T 3_prime_UTR_variant BRCA-EU 21 35229121 35229121 single base substitution C T downstream_gene_variant BRCA-EU 21 35229121 35229121 single base substitution C T missense_variant T1243I 3728C>T BRCA-EU 21 35229121 35229121 single base substitution C T missense_variant T1248I 3743C>T BRCA-EU 21 35229121 35229121 single base substitution C T upstream_gene_variant BRCA-EU 21 35229187 35229187 single base substitution C T downstream_gene_variant BRCA-EU 21 35229187 35229187 single base substitution C T intron_variant BRCA-EU 21 35229187 35229187 single base substitution C T upstream_gene_variant BRCA-EU 21 35229665 35229665 single base substitution C A downstream_gene_variant BRCA-EU 21 35229665 35229665 single base substitution C A intron_variant BRCA-EU 21 35229665 35229665 single base substitution C A upstream_gene_variant BRCA-EU 21 35230855 35230855 single base substitution C G downstream_gene_variant BRCA-EU 21 35230855 35230855 single base substitution C G intron_variant BRCA-EU 21 35230855 35230855 single base substitution C G upstream_gene_variant BRCA-EU 21 35231502 35231502 single base substitution G T downstream_gene_variant BRCA-EU 21 35231502 35231502 single base substitution G T intron_variant BRCA-EU 21 35231730 35231730 single base substitution G A downstream_gene_variant BRCA-EU 21 35231730 35231730 single base substitution G A intron_variant BRCA-EU 21 35232080 35232080 single base substitution G C downstream_gene_variant BRCA-EU 21 35232080 35232080 single base substitution G C intron_variant BRCA-EU 21 35233027 35233027 single base substitution C T downstream_gene_variant BRCA-EU 21 35233027 35233027 single base substitution C T intron_variant BRCA-EU 21 35233361 35233361 single base substitution A C downstream_gene_variant BRCA-EU 21 35233361 35233361 single base substitution A C intron_variant BRCA-EU 21 35233495 35233495 deletion of <=200bp A - downstream_gene_variant BRCA-EU 21 35233495 35233495 deletion of <=200bp A - intron_variant BRCA-EU 21 35233942 35233942 single base substitution G C downstream_gene_variant BRCA-EU 21 35233942 35233942 single base substitution G C intron_variant BRCA-EU 21 35234921 35234921 single base substitution G A intron_variant BRCA-EU 21 35235646 35235646 single base substitution C T intron_variant BRCA-EU 21 35235687 35235687 single base substitution C T intron_variant BRCA-EU 21 35235708 35235708 single base substitution C G intron_variant BRCA-EU 21 35235798 35235798 insertion of <=200bp - A intron_variant BRCA-EU 21 35237438 35237438 single base substitution C T intron_variant BRCA-EU 21 35238387 35238387 single base substitution C A intron_variant BRCA-EU 21 35238901 35238901 single base substitution G A intron_variant BRCA-EU 21 35239406 35239406 deletion of <=200bp C - intron_variant BRCA-EU 21 35240557 35240557 single base substitution C T intron_variant BRCA-EU 21 35240696 35240696 single base substitution G C intron_variant BRCA-EU 21 35242775 35242775 single base substitution G A intron_variant BRCA-EU 21 35242775 35242775 single base substitution G A upstream_gene_variant BRCA-EU 21 35243612 35243612 single base substitution G A intron_variant BRCA-EU 21 35243612 35243612 single base substitution G A upstream_gene_variant BRCA-EU 21 35243675 35243675 deletion of <=200bp A - intron_variant BRCA-EU 21 35243675 35243675 deletion of <=200bp A - upstream_gene_variant BRCA-EU 21 35246009 35246009 single base substitution C G intron_variant BRCA-EU 21 35246009 35246009 single base substitution C G upstream_gene_variant BRCA-EU 21 35246955 35246955 insertion of <=200bp - TT intron_variant BRCA-EU 21 35246955 35246955 insertion of <=200bp - TT upstream_gene_variant BRCA-EU 21 35247078 35247078 single base substitution G T intron_variant BRCA-EU 21 35247078 35247078 single base substitution G T upstream_gene_variant BRCA-EU 21 35247280 35247280 single base substitution A G intron_variant BRCA-EU 21 35247280 35247280 single base substitution A G upstream_gene_variant BRCA-EU 21 35248499 35248551 deletion of <=200bp TTCTCCTTCCTTCCTCTCTTCTTTTTCTCTTTCTTTCCTTCTCTCTCTCTTTC - intron_variant BRCA-EU 21 35249699 35249699 single base substitution G A intron_variant BRCA-EU 21 35250628 35250628 single base substitution C T intron_variant BRCA-EU 21 35252445 35252445 single base substitution A G intron_variant BRCA-EU 21 35252590 35252590 single base substitution G T intron_variant BRCA-EU 21 35252621 35252621 single base substitution G A intron_variant BRCA-EU 21 35253751 35253751 single base substitution G A intron_variant BRCA-EU 21 35253766 35253766 single base substitution C T intron_variant BRCA-EU 21 35253867 35253867 single base substitution G A intron_variant BRCA-EU 21 35254056 35254056 single base substitution G A intron_variant BRCA-EU 21 35255372 35255372 insertion of <=200bp - A intron_variant BRCA-EU 21 35255808 35255808 single base substitution A G intron_variant BRCA-EU 21 35255820 35255820 single base substitution C G intron_variant BRCA-EU 21 35255937 35255937 single base substitution C A 3_prime_UTR_variant BRCA-EU 21 35255937 35255937 single base substitution C A intron_variant BRCA-EU 21 35255937 35255937 single base substitution C A missense_variant D1485E 4455C>A BRCA-EU 21 35255937 35255937 single base substitution C A missense_variant D1541E 4623C>A BRCA-EU 21 35255937 35255937 single base substitution C A missense_variant D1546E 4638C>A BRCA-EU 21 35255937 35255937 single base substitution C A missense_variant D225E 675C>A BRCA-EU 21 35255937 35255937 single base substitution C A missense_variant D82E 246C>A BRCA-EU 21 35256157 35256157 single base substitution C T intron_variant BRCA-EU 21 35256397 35256397 single base substitution G T intron_variant BRCA-EU 21 35256949 35256949 single base substitution C G intron_variant BRCA-EU 21 35257448 35257448 single base substitution G A intron_variant BRCA-EU 21 35259036 35259036 single base substitution G A downstream_gene_variant BRCA-EU 21 35259036 35259036 single base substitution G A intron_variant BRCA-EU 21 35259244 35259244 single base substitution C T downstream_gene_variant BRCA-EU 21 35259244 35259244 single base substitution C T intron_variant BRCA-EU 21 35259814 35259814 single base substitution T A downstream_gene_variant BRCA-EU 21 35259814 35259814 single base substitution T A intron_variant BRCA-EU 21 35260360 35260360 single base substitution C T downstream_gene_variant BRCA-EU 21 35260360 35260360 single base substitution C T intron_variant BRCA-EU 21 35265999 35265999 single base substitution C T 3_prime_UTR_variant BRCA-EU 21 35265999 35265999 single base substitution C T downstream_gene_variant BRCA-EU 21 35269375 35269375 single base substitution G C 3_prime_UTR_variant BRCA-EU 21 35271404 35271404 single base substitution C T 3_prime_UTR_variant BRCA-EU 21 35272906 35272906 single base substitution C T downstream_gene_variant BRCA-EU 21 35273399 35273399 single base substitution C T downstream_gene_variant BRCA-EU 21 35273483 35273483 single base substitution G A downstream_gene_variant BRCA-EU 21 35277055 35277055 deletion of <=200bp T - downstream_gene_variant BRCA-FR 21 35015598 35015598 single base substitution G A intron_variant BRCA-FR 21 35018646 35018646 single base substitution C T intron_variant BRCA-FR 21 35021926 35021926 single base substitution G C intron_variant BRCA-FR 21 35032692 35032692 single base substitution C T intron_variant BRCA-FR 21 35041719 35041719 single base substitution G C intron_variant BRCA-FR 21 35043612 35043612 single base substitution G C intron_variant BRCA-FR 21 35044441 35044441 single base substitution C T intron_variant BRCA-FR 21 35049210 35049210 single base substitution C T intron_variant BRCA-FR 21 35054495 35054495 single base substitution C A intron_variant BRCA-FR 21 35054632 35054632 single base substitution C T intron_variant BRCA-FR 21 35054753 35054753 single base substitution C T intron_variant BRCA-FR 21 35069422 35069422 single base substitution C T intron_variant BRCA-FR 21 35069979 35069979 single base substitution C G intron_variant BRCA-FR 21 35070054 35070054 single base substitution C A intron_variant BRCA-FR 21 35103370 35103370 single base substitution G C intron_variant BRCA-FR 21 35103370 35103370 single base substitution G C upstream_gene_variant BRCA-FR 21 35103663 35103663 single base substitution C T intron_variant BRCA-FR 21 35103663 35103663 single base substitution C T upstream_gene_variant BRCA-FR 21 35106896 35106896 single base substitution C G intron_variant BRCA-FR 21 35106896 35106896 single base substitution C G upstream_gene_variant BRCA-FR 21 35115547 35115547 single base substitution G A intron_variant BRCA-FR 21 35119360 35119360 single base substitution G A intron_variant BRCA-FR 21 35120371 35120371 single base substitution G C intron_variant BRCA-FR 21 35128844 35128844 single base substitution A C intron_variant BRCA-FR 21 35134383 35134383 single base substitution G A intron_variant BRCA-FR 21 35140334 35140334 single base substitution C T intron_variant BRCA-FR 21 35145339 35145339 single base substitution C T downstream_gene_variant BRCA-FR 21 35145339 35145339 single base substitution C T intron_variant BRCA-FR 21 35145339 35145339 single base substitution C T upstream_gene_variant BRCA-FR 21 35158229 35158229 single base substitution C G intron_variant BRCA-FR 21 35161978 35161978 single base substitution C T intron_variant BRCA-FR 21 35178006 35178006 single base substitution C T intron_variant BRCA-FR 21 35183530 35183530 single base substitution C T intron_variant BRCA-FR 21 35183530 35183530 single base substitution C T splice_region_variant BRCA-FR 21 35189760 35189760 single base substitution G A downstream_gene_variant BRCA-FR 21 35189760 35189760 single base substitution G A intron_variant BRCA-FR 21 35189760 35189760 single base substitution G A missense_variant G219S 655G>A BRCA-FR 21 35189760 35189760 single base substitution G A missense_variant G980S 2938G>A BRCA-FR 21 35189760 35189760 single base substitution G A upstream_gene_variant BRCA-FR 21 35208423 35208423 single base substitution C A downstream_gene_variant BRCA-FR 21 35208423 35208423 single base substitution C A intron_variant BRCA-FR 21 35220795 35220795 single base substitution G C intron_variant BRCA-FR 21 35221667 35221667 single base substitution G A intron_variant BRCA-FR 21 35229667 35229667 single base substitution G C downstream_gene_variant BRCA-FR 21 35229667 35229667 single base substitution G C intron_variant BRCA-FR 21 35229667 35229667 single base substitution G C upstream_gene_variant BRCA-FR 21 35231730 35231730 single base substitution G A downstream_gene_variant BRCA-FR 21 35231730 35231730 single base substitution G A intron_variant BRCA-FR 21 35240557 35240557 single base substitution C T intron_variant BRCA-FR 21 35242775 35242775 single base substitution G A intron_variant BRCA-FR 21 35242775 35242775 single base substitution G A upstream_gene_variant BRCA-FR 21 35243550 35243550 single base substitution G C intron_variant BRCA-FR 21 35243550 35243550 single base substitution G C upstream_gene_variant BRCA-FR 21 35252445 35252445 single base substitution A G intron_variant BRCA-FR 21 35256397 35256397 single base substitution G T intron_variant BRCA-FR 21 35270105 35270105 single base substitution A C 3_prime_UTR_variant BRCA-FR 21 35272906 35272906 single base substitution C T downstream_gene_variant BRCA-UK 21 35028878 35028878 single base substitution C G intron_variant BRCA-UK 21 35029885 35029885 single base substitution C T intron_variant BRCA-UK 21 35035085 35035085 single base substitution G A intron_variant BRCA-UK 21 35081390 35081390 single base substitution T A intron_variant BRCA-UK 21 35091129 35091129 single base substitution G T 5_prime_UTR_variant BRCA-UK 21 35091129 35091129 single base substitution G T exon_variant BRCA-UK 21 35091129 35091129 single base substitution G T upstream_gene_variant BRCA-UK 21 35148300 35148300 single base substitution T G downstream_gene_variant BRCA-UK 21 35148300 35148300 single base substitution T G intron_variant BRCA-UK 21 35175205 35175205 single base substitution T C intron_variant BRCA-UK 21 35200294 35200294 single base substitution G A intron_variant BRCA-UK 21 35200294 35200294 single base substitution G A upstream_gene_variant BRCA-US 21 35122544 35122544 single base substitution C G intron_variant BRCA-US 21 35122544 35122544 single base substitution C G missense_variant S148C 443C>G BRCA-US 21 35122544 35122544 single base substitution C G upstream_gene_variant BRCA-US 21 35138278 35138278 single base substitution A C exon_variant BRCA-US 21 35138278 35138278 single base substitution A C synonymous_variant P236P 708A>C BRCA-US 21 35138278 35138278 single base substitution A C synonymous_variant P259P 777A>C BRCA-US 21 35138278 35138278 single base substitution A C synonymous_variant P296P 888A>C BRCA-US 21 35147278 35147278 deletion of <=200bp A - downstream_gene_variant BRCA-US 21 35147278 35147278 deletion of <=200bp A - exon_variant BRCA-US 21 35147278 35147278 deletion of <=200bp A - frameshift_variant K451 BRCA-US 21 35147278 35147278 deletion of <=200bp A - frameshift_variant K488 BRCA-US 21 35154375 35154375 single base substitution G A missense_variant E551K 1651G>A BRCA-US 21 35154375 35154375 single base substitution G A missense_variant E588K 1762G>A BRCA-US 21 35172111 35172111 single base substitution G A splice_acceptor_variant BRCA-US 21 35172111 35172111 single base substitution G A upstream_gene_variant BRCA-US 21 35183328 35183328 single base substitution A G 3_prime_UTR_variant BRCA-US 21 35183328 35183328 single base substitution A G missense_variant K24R 71A>G BRCA-US 21 35183328 35183328 single base substitution A G missense_variant K748R 2243A>G BRCA-US 21 35183328 35183328 single base substitution A G missense_variant K785R 2354A>G BRCA-US 21 35183328 35183328 single base substitution A G missense_variant K790R 2369A>G BRCA-US 21 35183328 35183328 single base substitution A G upstream_gene_variant BRCA-US 21 35183459 35183459 single base substitution G A 3_prime_UTR_variant BRCA-US 21 35183459 35183459 single base substitution G A missense_variant A68T 202G>A BRCA-US 21 35183459 35183459 single base substitution G A missense_variant A792T 2374G>A BRCA-US 21 35183459 35183459 single base substitution G A missense_variant A829T 2485G>A BRCA-US 21 35183459 35183459 single base substitution G A missense_variant A834T 2500G>A BRCA-US 21 35183459 35183459 single base substitution G A upstream_gene_variant BRCA-US 21 35183510 35183510 single base substitution G A 3_prime_UTR_variant BRCA-US 21 35183510 35183510 single base substitution G A exon_variant BRCA-US 21 35183510 35183510 single base substitution G A missense_variant A809T 2425G>A BRCA-US 21 35183510 35183510 single base substitution G A missense_variant A846T 2536G>A BRCA-US 21 35183510 35183510 single base substitution G A missense_variant A851T 2551G>A BRCA-US 21 35183510 35183510 single base substitution G A missense_variant A85T 253G>A BRCA-US 21 35190573 35190573 single base substitution T G downstream_gene_variant BRCA-US 21 35190573 35190573 single base substitution T G exon_variant BRCA-US 21 35190573 35190573 single base substitution T G intron_variant BRCA-US 21 35190573 35190573 single base substitution T G splice_region_variant BRCA-US 21 35190573 35190573 single base substitution T G upstream_gene_variant BRCA-US 21 35190581 35190581 single base substitution T G downstream_gene_variant BRCA-US 21 35190581 35190581 single base substitution T G exon_variant BRCA-US 21 35190581 35190581 single base substitution T G intron_variant BRCA-US 21 35190581 35190581 single base substitution T G missense_variant V871G 2612T>G BRCA-US 21 35190581 35190581 single base substitution T G missense_variant V908G 2723T>G BRCA-US 21 35190581 35190581 single base substitution T G missense_variant V913G 2738T>G BRCA-US 21 35190581 35190581 single base substitution T G upstream_gene_variant BRCA-US 21 35254747 35254747 single base substitution A C 3_prime_UTR_variant BRCA-US 21 35254747 35254747 single base substitution A C intron_variant BRCA-US 21 35254747 35254747 single base substitution A C missense_variant K1453N 4359A>C BRCA-US 21 35254747 35254747 single base substitution A C missense_variant K1509N 4527A>C BRCA-US 21 35254747 35254747 single base substitution A C missense_variant K1514N 4542A>C BRCA-US 21 35254747 35254747 single base substitution A C missense_variant K193N 579A>C BRCA-US 21 35255938 35255938 single base substitution C T 3_prime_UTR_variant BRCA-US 21 35255938 35255938 single base substitution C T intron_variant BRCA-US 21 35255938 35255938 single base substitution C T missense_variant R1486C 4456C>T BRCA-US 21 35255938 35255938 single base substitution C T missense_variant R1542C 4624C>T BRCA-US 21 35255938 35255938 single base substitution C T missense_variant R1547C 4639C>T BRCA-US 21 35255938 35255938 single base substitution C T missense_variant R226C 676C>T BRCA-US 21 35255938 35255938 single base substitution C T missense_variant R83C 247C>T BRCA-US 21 35258721 35258721 single base substitution C G 3_prime_UTR_variant BRCA-US 21 35258721 35258721 single base substitution C G downstream_gene_variant BRCA-US 21 35258721 35258721 single base substitution C G synonymous_variant V1597V 4791C>G BRCA-US 21 35258721 35258721 single base substitution C G synonymous_variant V1653V 4959C>G BRCA-US 21 35258721 35258721 single base substitution C G synonymous_variant V1658V 4974C>G BRCA-US 21 35275852 35275852 single base substitution C A downstream_gene_variant BTCA-JP 21 35154173 35154173 single base substitution G A intron_variant BTCA-JP 21 35186321 35186321 single base substitution C A 3_prime_UTR_variant BTCA-JP 21 35186321 35186321 single base substitution C A exon_variant BTCA-JP 21 35186321 35186321 single base substitution C A missense_variant S125Y 374C>A BTCA-JP 21 35186321 35186321 single base substitution C A missense_variant S849Y 2546C>A BTCA-JP 21 35186321 35186321 single base substitution C A missense_variant S886Y 2657C>A BTCA-JP 21 35186321 35186321 single base substitution C A missense_variant S891Y 2672C>A BTCA-JP 21 35186321 35186321 single base substitution C A upstream_gene_variant BTCA-JP 21 35229029 35229029 single base substitution G A intron_variant BTCA-JP 21 35229029 35229029 single base substitution G A upstream_gene_variant BTCA-JP 21 35237423 35237423 single base substitution G A intron_variant CESC-US 21 35147123 35147123 single base substitution G A downstream_gene_variant CESC-US 21 35147123 35147123 single base substitution G A exon_variant CESC-US 21 35147123 35147123 single base substitution G A missense_variant E429K 1285G>A CESC-US 21 35147123 35147123 single base substitution G A missense_variant E466K 1396G>A CESC-US 21 35154300 35154300 single base substitution G C missense_variant D526H 1576G>C CESC-US 21 35154300 35154300 single base substitution G C missense_variant D563H 1687G>C CESC-US 21 35201969 35201969 single base substitution G A 3_prime_UTR_variant CESC-US 21 35201969 35201969 single base substitution G A downstream_gene_variant CESC-US 21 35201969 35201969 single base substitution G A exon_variant CESC-US 21 35201969 35201969 single base substitution G A missense_variant E1015K 3043G>A CESC-US 21 35201969 35201969 single base substitution G A missense_variant E1020K 3058G>A CESC-US 21 35201969 35201969 single base substitution G A missense_variant E1049K 3145G>A CESC-US 21 35201969 35201969 single base substitution G A missense_variant E1086K 3256G>A CESC-US 21 35201969 35201969 single base substitution G A missense_variant E1091K 3271G>A CESC-US 21 35257379 35257379 single base substitution G A 3_prime_UTR_variant CESC-US 21 35257379 35257379 single base substitution G A exon_variant CESC-US 21 35257379 35257379 single base substitution G A missense_variant E107K 319G>A CESC-US 21 35257379 35257379 single base substitution G A missense_variant E1510K 4528G>A CESC-US 21 35257379 35257379 single base substitution G A missense_variant E1566K 4696G>A CESC-US 21 35257379 35257379 single base substitution G A missense_variant E1571K 4711G>A CESC-US 21 35257379 35257379 single base substitution G A missense_variant E250K 748G>A CLLE-ES 21 35047745 35047745 single base substitution T G intron_variant CLLE-ES 21 35049398 35049398 single base substitution A G intron_variant CLLE-ES 21 35060618 35060618 single base substitution C T intron_variant CLLE-ES 21 35067192 35067192 single base substitution T C intron_variant CLLE-ES 21 35074814 35074814 single base substitution T C intron_variant CLLE-ES 21 35078527 35078527 single base substitution T A intron_variant CLLE-ES 21 35081065 35081065 single base substitution C G intron_variant CLLE-ES 21 35084902 35084902 single base substitution G T intron_variant CLLE-ES 21 35086945 35086945 single base substitution C G intron_variant CLLE-ES 21 35086945 35086945 single base substitution C G upstream_gene_variant CLLE-ES 21 35099229 35099229 single base substitution G A downstream_gene_variant CLLE-ES 21 35099229 35099229 single base substitution G A intron_variant CLLE-ES 21 35121913 35121913 single base substitution C A intron_variant CLLE-ES 21 35121913 35121913 single base substitution C A upstream_gene_variant CLLE-ES 21 35130577 35130577 single base substitution G A intron_variant CLLE-ES 21 35133534 35133534 single base substitution C T intron_variant CLLE-ES 21 35139154 35139154 single base substitution G T intron_variant CLLE-ES 21 35143128 35143128 single base substitution C T intron_variant CLLE-ES 21 35143128 35143128 single base substitution C T upstream_gene_variant CLLE-ES 21 35149416 35149416 single base substitution T G downstream_gene_variant CLLE-ES 21 35149416 35149416 single base substitution T G intron_variant CLLE-ES 21 35158129 35158129 single base substitution G A intron_variant CLLE-ES 21 35162082 35162082 single base substitution G A intron_variant CLLE-ES 21 35165207 35165207 single base substitution C G intron_variant CLLE-ES 21 35165207 35165207 single base substitution C G upstream_gene_variant CLLE-ES 21 35168273 35168273 single base substitution T A intron_variant CLLE-ES 21 35168273 35168273 single base substitution T A upstream_gene_variant CLLE-ES 21 35177156 35177156 single base substitution T A intron_variant CLLE-ES 21 35210648 35210648 single base substitution C T 3_prime_UTR_variant CLLE-ES 21 35210648 35210648 single base substitution C T downstream_gene_variant CLLE-ES 21 35210648 35210648 single base substitution C T intron_variant CLLE-ES 21 35219970 35219970 single base substitution C G intron_variant CLLE-ES 21 35220830 35220830 single base substitution C T intron_variant CLLE-ES 21 35257091 35257091 single base substitution A G intron_variant CLLE-ES 21 35265527 35265527 single base substitution C T 3_prime_UTR_variant CLLE-ES 21 35265527 35265527 single base substitution C T downstream_gene_variant CLLE-ES 21 35267936 35267936 single base substitution C T 3_prime_UTR_variant CLLE-ES 21 35275741 35275741 single base substitution G A downstream_gene_variant COAD-US 21 35107497 35107497 single base substitution G A downstream_gene_variant COAD-US 21 35107497 35107497 single base substitution G A missense_variant A112T 334G>A COAD-US 21 35107497 35107497 single base substitution G A missense_variant A51T 151G>A COAD-US 21 35122566 35122566 insertion of <=200bp - C frameshift_variant V118V? COAD-US 21 35122566 35122566 insertion of <=200bp - C frameshift_variant V155V? COAD-US 21 35122566 35122566 insertion of <=200bp - C intron_variant COAD-US 21 35122566 35122566 insertion of <=200bp - C upstream_gene_variant COAD-US 21 35140024 35140024 single base substitution C T exon_variant COAD-US 21 35140024 35140024 single base substitution C T stop_gained R252* 754C>T COAD-US 21 35140024 35140024 single base substitution C T stop_gained R275* 823C>T COAD-US 21 35140024 35140024 single base substitution C T stop_gained R312* 934C>T COAD-US 21 35169726 35169726 single base substitution C T stop_gained Q629* 1885C>T COAD-US 21 35169726 35169726 single base substitution C T stop_gained Q666* 1996C>T COAD-US 21 35169726 35169726 single base substitution C T upstream_gene_variant COAD-US 21 35169809 35169809 single base substitution C T synonymous_variant G656G 1968C>T COAD-US 21 35169809 35169809 single base substitution C T synonymous_variant G693G 2079C>T COAD-US 21 35169809 35169809 single base substitution C T upstream_gene_variant COAD-US 21 35183447 35183447 single base substitution C T 3_prime_UTR_variant COAD-US 21 35183447 35183447 single base substitution C T missense_variant R64C 190C>T COAD-US 21 35183447 35183447 single base substitution C T missense_variant R788C 2362C>T COAD-US 21 35183447 35183447 single base substitution C T missense_variant R825C 2473C>T COAD-US 21 35183447 35183447 single base substitution C T missense_variant R830C 2488C>T COAD-US 21 35183447 35183447 single base substitution C T upstream_gene_variant COAD-US 21 35195812 35195812 single base substitution A G exon_variant COAD-US 21 35195812 35195812 single base substitution A G intron_variant COAD-US 21 35195812 35195812 single base substitution A G missense_variant Y1008C 3023A>G COAD-US 21 35195812 35195812 single base substitution A G missense_variant Y1013C 3038A>G COAD-US 21 35195812 35195812 single base substitution A G missense_variant Y971C 2912A>G COAD-US 21 35199157 35199157 single base substitution A G exon_variant COAD-US 21 35199157 35199157 single base substitution A G intron_variant COAD-US 21 35199157 35199157 single base substitution A G missense_variant K1013E 3037A>G COAD-US 21 35199157 35199157 single base substitution A G synonymous_variant G1031G 3093A>G COAD-US 21 35199157 35199157 single base substitution A G synonymous_variant G1068G 3204A>G COAD-US 21 35199157 35199157 single base substitution A G synonymous_variant G1073G 3219A>G COAD-US 21 35199157 35199157 single base substitution A G upstream_gene_variant COAD-US 21 35237469 35237469 single base substitution G A 3_prime_UTR_variant COAD-US 21 35237469 35237469 single base substitution G A missense_variant R1297H 3890G>A COAD-US 21 35237469 35237469 single base substitution G A missense_variant R1302H 3905G>A COAD-US 21 35237469 35237469 single base substitution G A missense_variant R37H 110G>A COAD-US 21 35239619 35239619 single base substitution C A 3_prime_UTR_variant COAD-US 21 35239619 35239619 single base substitution C A missense_variant P121Q 362C>A COAD-US 21 35239619 35239619 single base substitution C A missense_variant P1381Q 4142C>A COAD-US 21 35239619 35239619 single base substitution C A missense_variant P1386Q 4157C>A COAD-US 21 35254683 35254683 single base substitution C T 3_prime_UTR_variant COAD-US 21 35254683 35254683 single base substitution C T intron_variant COAD-US 21 35254683 35254683 single base substitution C T missense_variant T1432M 4295C>T COAD-US 21 35254683 35254683 single base substitution C T missense_variant T1488M 4463C>T COAD-US 21 35254683 35254683 single base substitution C T missense_variant T1493M 4478C>T COAD-US 21 35254683 35254683 single base substitution C T missense_variant T172M 515C>T COAD-US 21 35257411 35257411 single base substitution C T 3_prime_UTR_variant COAD-US 21 35257411 35257411 single base substitution C T synonymous_variant R117R 351C>T COAD-US 21 35257411 35257411 single base substitution C T synonymous_variant R1520R 4560C>T COAD-US 21 35257411 35257411 single base substitution C T synonymous_variant R1576R 4728C>T COAD-US 21 35257411 35257411 single base substitution C T synonymous_variant R1581R 4743C>T COAD-US 21 35257411 35257411 single base substitution C T synonymous_variant R260R 780C>T COAD-US 21 35260480 35260480 single base substitution G A 3_prime_UTR_variant COAD-US 21 35260480 35260480 single base substitution G A downstream_gene_variant COAD-US 21 35260480 35260480 single base substitution G A missense_variant R1620H 4859G>A COAD-US 21 35260480 35260480 single base substitution G A missense_variant R1676H 5027G>A COAD-US 21 35260480 35260480 single base substitution G A missense_variant R1681H 5042G>A COAD-US 21 35260481 35260481 single base substitution T C 3_prime_UTR_variant COAD-US 21 35260481 35260481 single base substitution T C downstream_gene_variant COAD-US 21 35260481 35260481 single base substitution T C synonymous_variant R1620R 4860T>C COAD-US 21 35260481 35260481 single base substitution T C synonymous_variant R1676R 5028T>C COAD-US 21 35260481 35260481 single base substitution T C synonymous_variant R1681R 5043T>C COAD-US 21 35260550 35260550 single base substitution C T 3_prime_UTR_variant COAD-US 21 35260550 35260550 single base substitution C T downstream_gene_variant COAD-US 21 35260550 35260550 single base substitution C T synonymous_variant V1643V 4929C>T COAD-US 21 35260550 35260550 single base substitution C T synonymous_variant V1699V 5097C>T COAD-US 21 35260550 35260550 single base substitution C T synonymous_variant V1704V 5112C>T COCA-CN 21 35127520 35127520 single base substitution C T intron_variant COCA-CN 21 35134209 35134209 single base substitution T C intron_variant COCA-CN 21 35140024 35140024 single base substitution C T exon_variant COCA-CN 21 35140024 35140024 single base substitution C T stop_gained R252* 754C>T COCA-CN 21 35140024 35140024 single base substitution C T stop_gained R275* 823C>T COCA-CN 21 35140024 35140024 single base substitution C T stop_gained R312* 934C>T COCA-CN 21 35140104 35140104 single base substitution A G exon_variant COCA-CN 21 35140104 35140104 single base substitution A G synonymous_variant E278E 834A>G COCA-CN 21 35140104 35140104 single base substitution A G synonymous_variant E301E 903A>G COCA-CN 21 35140104 35140104 single base substitution A G synonymous_variant E338E 1014A>G COCA-CN 21 35147426 35147426 single base substitution C G downstream_gene_variant COCA-CN 21 35147426 35147426 single base substitution C G intron_variant COCA-CN 21 35153576 35153576 single base substitution G T intron_variant COCA-CN 21 35154410 35154410 single base substitution G T missense_variant E562D 1686G>T COCA-CN 21 35154410 35154410 single base substitution G T missense_variant E599D 1797G>T COCA-CN 21 35166779 35166779 single base substitution C A splice_region_variant COCA-CN 21 35166779 35166779 single base substitution C A upstream_gene_variant COCA-CN 21 35166822 35166822 single base substitution T C intron_variant COCA-CN 21 35166822 35166822 single base substitution T C upstream_gene_variant COCA-CN 21 35166945 35166945 single base substitution A G intron_variant COCA-CN 21 35166945 35166945 single base substitution A G upstream_gene_variant COCA-CN 21 35172086 35172086 single base substitution T C intron_variant COCA-CN 21 35172086 35172086 single base substitution T C upstream_gene_variant COCA-CN 21 35186170 35186170 single base substitution A T intron_variant COCA-CN 21 35186170 35186170 single base substitution A T upstream_gene_variant COCA-CN 21 35186323 35186323 single base substitution G A 3_prime_UTR_variant COCA-CN 21 35186323 35186323 single base substitution G A exon_variant COCA-CN 21 35186323 35186323 single base substitution G A missense_variant A126T 376G>A COCA-CN 21 35186323 35186323 single base substitution G A missense_variant A850T 2548G>A COCA-CN 21 35186323 35186323 single base substitution G A missense_variant A887T 2659G>A COCA-CN 21 35186323 35186323 single base substitution G A missense_variant A892T 2674G>A COCA-CN 21 35186323 35186323 single base substitution G A upstream_gene_variant COCA-CN 21 35190580 35190580 single base substitution G A downstream_gene_variant COCA-CN 21 35190580 35190580 single base substitution G A exon_variant COCA-CN 21 35190580 35190580 single base substitution G A intron_variant COCA-CN 21 35190580 35190580 single base substitution G A missense_variant V871M 2611G>A COCA-CN 21 35190580 35190580 single base substitution G A missense_variant V908M 2722G>A COCA-CN 21 35190580 35190580 single base substitution G A missense_variant V913M 2737G>A COCA-CN 21 35190580 35190580 single base substitution G A upstream_gene_variant COCA-CN 21 35199161 35199161 single base substitution A C exon_variant COCA-CN 21 35199161 35199161 single base substitution A C intron_variant COCA-CN 21 35199161 35199161 single base substitution A C missense_variant K1014T 3041A>C COCA-CN 21 35199161 35199161 single base substitution A C missense_variant K1033Q 3097A>C COCA-CN 21 35199161 35199161 single base substitution A C missense_variant K1070Q 3208A>C COCA-CN 21 35199161 35199161 single base substitution A C missense_variant K1075Q 3223A>C COCA-CN 21 35199161 35199161 single base substitution A C upstream_gene_variant COCA-CN 21 35208767 35208767 single base substitution C T 3_prime_UTR_variant COCA-CN 21 35208767 35208767 single base substitution C T downstream_gene_variant COCA-CN 21 35208767 35208767 single base substitution C T exon_variant COCA-CN 21 35208767 35208767 single base substitution C T intron_variant COCA-CN 21 35208767 35208767 single base substitution C T synonymous_variant Y1088Y 3264C>T COCA-CN 21 35208767 35208767 single base substitution C T synonymous_variant Y1093Y 3279C>T COCA-CN 21 35208767 35208767 single base substitution C T synonymous_variant Y1122Y 3366C>T COCA-CN 21 35208767 35208767 single base substitution C T synonymous_variant Y1159Y 3477C>T COCA-CN 21 35208767 35208767 single base substitution C T synonymous_variant Y1164Y 3492C>T COCA-CN 21 35229057 35229057 single base substitution C A 3_prime_UTR_variant COCA-CN 21 35229057 35229057 single base substitution C A exon_variant COCA-CN 21 35229057 35229057 single base substitution C A missense_variant L1222I 3664C>A COCA-CN 21 35229057 35229057 single base substitution C A missense_variant L1227I 3679C>A COCA-CN 21 35229057 35229057 single base substitution C A upstream_gene_variant COCA-CN 21 35229108 35229108 single base substitution G A 3_prime_UTR_variant COCA-CN 21 35229108 35229108 single base substitution G A downstream_gene_variant COCA-CN 21 35229108 35229108 single base substitution G A missense_variant E1239K 3715G>A COCA-CN 21 35229108 35229108 single base substitution G A missense_variant E1244K 3730G>A COCA-CN 21 35229108 35229108 single base substitution G A upstream_gene_variant COCA-CN 21 35231264 35231264 single base substitution G A downstream_gene_variant COCA-CN 21 35231264 35231264 single base substitution G A intron_variant COCA-CN 21 35237555 35237555 single base substitution C T 3_prime_UTR_variant COCA-CN 21 35237555 35237555 single base substitution C T missense_variant R1326C 3976C>T COCA-CN 21 35237555 35237555 single base substitution C T missense_variant R1331C 3991C>T COCA-CN 21 35237555 35237555 single base substitution C T missense_variant R66C 196C>T COCA-CN 21 35254563 35254563 single base substitution C A 3_prime_UTR_variant COCA-CN 21 35254563 35254563 single base substitution C A intron_variant COCA-CN 21 35254563 35254563 single base substitution C A stop_gained S132* 395C>A COCA-CN 21 35254563 35254563 single base substitution C A stop_gained S1392* 4175C>A COCA-CN 21 35254563 35254563 single base substitution C A stop_gained S1448* 4343C>A COCA-CN 21 35254563 35254563 single base substitution C A stop_gained S1453* 4358C>A COCA-CN 21 35255865 35255865 single base substitution A G 3_prime_UTR_variant COCA-CN 21 35255865 35255865 single base substitution A G intron_variant COCA-CN 21 35255865 35255865 single base substitution A G synonymous_variant L1461L 4383A>G COCA-CN 21 35255865 35255865 single base substitution A G synonymous_variant L1517L 4551A>G COCA-CN 21 35255865 35255865 single base substitution A G synonymous_variant L1522L 4566A>G COCA-CN 21 35255865 35255865 single base substitution A G synonymous_variant L201L 603A>G COCA-CN 21 35255865 35255865 single base substitution A G synonymous_variant L58L 174A>G COCA-CN 21 35255908 35255908 single base substitution G A 3_prime_UTR_variant COCA-CN 21 35255908 35255908 single base substitution G A intron_variant COCA-CN 21 35255908 35255908 single base substitution G A missense_variant E1476K 4426G>A COCA-CN 21 35255908 35255908 single base substitution G A missense_variant E1532K 4594G>A COCA-CN 21 35255908 35255908 single base substitution G A missense_variant E1537K 4609G>A COCA-CN 21 35255908 35255908 single base substitution G A missense_variant E216K 646G>A COCA-CN 21 35255908 35255908 single base substitution G A missense_variant E73K 217G>A COCA-CN 21 35257336 35257336 single base substitution C A intron_variant COCA-CN 21 35260536 35260536 single base substitution C A 3_prime_UTR_variant COCA-CN 21 35260536 35260536 single base substitution C A downstream_gene_variant COCA-CN 21 35260536 35260536 single base substitution C A missense_variant L1639M 4915C>A COCA-CN 21 35260536 35260536 single base substitution C A missense_variant L1695M 5083C>A COCA-CN 21 35260536 35260536 single base substitution C A missense_variant L1700M 5098C>A EOPC-DE 21 35156031 35156031 single base substitution A T intron_variant EOPC-DE 21 35180170 35180170 single base substitution G T intron_variant EOPC-DE 21 35180170 35180170 single base substitution G T upstream_gene_variant EOPC-DE 21 35195176 35195176 single base substitution A T intron_variant ESAD-UK 21 35012387 35012387 single base substitution C T upstream_gene_variant ESAD-UK 21 35014078 35014078 single base substitution G A upstream_gene_variant ESAD-UK 21 35022196 35022196 single base substitution A G intron_variant ESAD-UK 21 35027106 35027106 single base substitution A C intron_variant ESAD-UK 21 35027842 35027842 single base substitution T G intron_variant ESAD-UK 21 35028744 35028744 single base substitution C T intron_variant ESAD-UK 21 35030041 35030041 single base substitution C T intron_variant ESAD-UK 21 35030174 35030174 single base substitution C G intron_variant ESAD-UK 21 35030509 35030509 single base substitution G A intron_variant ESAD-UK 21 35033538 35033538 single base substitution G T intron_variant ESAD-UK 21 35035596 35035596 single base substitution T C intron_variant ESAD-UK 21 35036272 35036272 single base substitution T G intron_variant ESAD-UK 21 35041355 35041355 single base substitution C T intron_variant ESAD-UK 21 35041772 35041772 single base substitution G C intron_variant ESAD-UK 21 35042799 35042799 single base substitution T C intron_variant ESAD-UK 21 35043192 35043192 single base substitution G T intron_variant ESAD-UK 21 35044652 35044655 deletion of <=200bp CAAA - intron_variant ESAD-UK 21 35045193 35045193 insertion of <=200bp - T intron_variant ESAD-UK 21 35047798 35047798 single base substitution G A intron_variant ESAD-UK 21 35050566 35050566 single base substitution T G intron_variant ESAD-UK 21 35057478 35057478 single base substitution G A intron_variant ESAD-UK 21 35057498 35057498 single base substitution G A intron_variant ESAD-UK 21 35057618 35057618 single base substitution G A intron_variant ESAD-UK 21 35058194 35058194 single base substitution C T intron_variant ESAD-UK 21 35060545 35060545 single base substitution T A intron_variant ESAD-UK 21 35064579 35064579 single base substitution A C intron_variant ESAD-UK 21 35064986 35064986 single base substitution A G intron_variant ESAD-UK 21 35075385 35075385 insertion of <=200bp - TGTG intron_variant ESAD-UK 21 35080276 35080276 single base substitution A G intron_variant ESAD-UK 21 35080447 35080447 single base substitution C A intron_variant ESAD-UK 21 35080455 35080455 single base substitution G A intron_variant ESAD-UK 21 35080842 35080842 single base substitution G A intron_variant ESAD-UK 21 35083083 35083083 single base substitution A G intron_variant ESAD-UK 21 35083117 35083117 single base substitution T G intron_variant ESAD-UK 21 35084361 35084361 single base substitution G A intron_variant ESAD-UK 21 35084516 35084516 single base substitution C G intron_variant ESAD-UK 21 35084518 35084518 single base substitution G T intron_variant ESAD-UK 21 35088799 35088799 single base substitution T G 5_prime_UTR_variant ESAD-UK 21 35088799 35088799 single base substitution T G intron_variant ESAD-UK 21 35088799 35088799 single base substitution T G upstream_gene_variant ESAD-UK 21 35089614 35089614 single base substitution A C intron_variant ESAD-UK 21 35089614 35089614 single base substitution A C upstream_gene_variant ESAD-UK 21 35092987 35092987 single base substitution C A intron_variant ESAD-UK 21 35094336 35094336 single base substitution G T downstream_gene_variant ESAD-UK 21 35094336 35094336 single base substitution G T intron_variant ESAD-UK 21 35097121 35097121 insertion of <=200bp - T downstream_gene_variant ESAD-UK 21 35097121 35097121 insertion of <=200bp - T intron_variant ESAD-UK 21 35097762 35097762 single base substitution G A downstream_gene_variant ESAD-UK 21 35097762 35097762 single base substitution G A intron_variant ESAD-UK 21 35100142 35100142 single base substitution C T intron_variant ESAD-UK 21 35101934 35101934 single base substitution C A intron_variant ESAD-UK 21 35102545 35102545 single base substitution C T intron_variant ESAD-UK 21 35102545 35102545 single base substitution C T upstream_gene_variant ESAD-UK 21 35105399 35105399 single base substitution T C intron_variant ESAD-UK 21 35105399 35105399 single base substitution T C upstream_gene_variant ESAD-UK 21 35105425 35105425 deletion of <=200bp A - intron_variant ESAD-UK 21 35105425 35105425 deletion of <=200bp A - upstream_gene_variant ESAD-UK 21 35107182 35107182 deletion of <=200bp A - intron_variant ESAD-UK 21 35107182 35107182 deletion of <=200bp A - upstream_gene_variant ESAD-UK 21 35107273 35107275 deletion of <=200bp TGT - intron_variant ESAD-UK 21 35107273 35107275 deletion of <=200bp TGT - upstream_gene_variant ESAD-UK 21 35109833 35109833 single base substitution G C downstream_gene_variant ESAD-UK 21 35109833 35109833 single base substitution G C intron_variant ESAD-UK 21 35110246 35110246 single base substitution G T downstream_gene_variant ESAD-UK 21 35110246 35110246 single base substitution G T intron_variant ESAD-UK 21 35111162 35111162 single base substitution C T downstream_gene_variant ESAD-UK 21 35111162 35111162 single base substitution C T intron_variant ESAD-UK 21 35111880 35111880 single base substitution T C downstream_gene_variant ESAD-UK 21 35111880 35111880 single base substitution T C intron_variant ESAD-UK 21 35112315 35112315 insertion of <=200bp - T downstream_gene_variant ESAD-UK 21 35112315 35112315 insertion of <=200bp - T intron_variant ESAD-UK 21 35113972 35113972 single base substitution C T intron_variant ESAD-UK 21 35115823 35115823 single base substitution A G intron_variant ESAD-UK 21 35118196 35118196 single base substitution G A intron_variant ESAD-UK 21 35121872 35121872 single base substitution G A intron_variant ESAD-UK 21 35121872 35121872 single base substitution G A upstream_gene_variant ESAD-UK 21 35122680 35122680 single base substitution G A intron_variant ESAD-UK 21 35122680 35122680 single base substitution G A upstream_gene_variant ESAD-UK 21 35122906 35122906 single base substitution G A intron_variant ESAD-UK 21 35122906 35122906 single base substitution G A upstream_gene_variant ESAD-UK 21 35125690 35125690 single base substitution G T intron_variant ESAD-UK 21 35125690 35125690 single base substitution G T upstream_gene_variant ESAD-UK 21 35125703 35125703 single base substitution G C intron_variant ESAD-UK 21 35125703 35125703 single base substitution G C upstream_gene_variant ESAD-UK 21 35125898 35125898 single base substitution T C intron_variant ESAD-UK 21 35125898 35125898 single base substitution T C upstream_gene_variant ESAD-UK 21 35127578 35127578 single base substitution C G intron_variant ESAD-UK 21 35129907 35129907 single base substitution T A intron_variant ESAD-UK 21 35132420 35132420 single base substitution A G intron_variant ESAD-UK 21 35133190 35133193 deletion of <=200bp CTCT - intron_variant ESAD-UK 21 35133426 35133426 single base substitution G T intron_variant ESAD-UK 21 35139790 35139790 single base substitution A G intron_variant ESAD-UK 21 35142127 35142127 single base substitution G A intron_variant ESAD-UK 21 35142127 35142127 single base substitution G A upstream_gene_variant ESAD-UK 21 35144584 35144584 single base substitution G A exon_variant ESAD-UK 21 35144584 35144584 single base substitution G A missense_variant R361Q 1082G>A ESAD-UK 21 35144584 35144584 single base substitution G A missense_variant R384Q 1151G>A ESAD-UK 21 35144584 35144584 single base substitution G A missense_variant R421Q 1262G>A ESAD-UK 21 35144584 35144584 single base substitution G A upstream_gene_variant ESAD-UK 21 35145611 35145611 single base substitution C T downstream_gene_variant ESAD-UK 21 35145611 35145611 single base substitution C T intron_variant ESAD-UK 21 35145611 35145611 single base substitution C T upstream_gene_variant ESAD-UK 21 35148637 35148637 single base substitution C T downstream_gene_variant ESAD-UK 21 35148637 35148637 single base substitution C T intron_variant ESAD-UK 21 35151384 35151384 single base substitution A C downstream_gene_variant ESAD-UK 21 35151384 35151384 single base substitution A C intron_variant ESAD-UK 21 35151883 35151883 single base substitution A C downstream_gene_variant ESAD-UK 21 35151883 35151883 single base substitution A C intron_variant ESAD-UK 21 35153082 35153082 single base substitution A G intron_variant ESAD-UK 21 35153654 35153654 single base substitution T G intron_variant ESAD-UK 21 35154811 35154811 single base substitution C T intron_variant ESAD-UK 21 35155920 35155920 insertion of <=200bp - A intron_variant ESAD-UK 21 35157642 35157642 single base substitution T C intron_variant ESAD-UK 21 35159224 35159224 single base substitution C A intron_variant ESAD-UK 21 35160586 35160586 single base substitution C T intron_variant ESAD-UK 21 35162343 35162343 single base substitution A G intron_variant ESAD-UK 21 35163666 35163666 single base substitution C T intron_variant ESAD-UK 21 35163958 35163958 single base substitution C G intron_variant ESAD-UK 21 35170722 35170722 single base substitution T A intron_variant ESAD-UK 21 35170722 35170722 single base substitution T A upstream_gene_variant ESAD-UK 21 35170723 35170723 single base substitution A T intron_variant ESAD-UK 21 35170723 35170723 single base substitution A T upstream_gene_variant ESAD-UK 21 35174465 35174466 deletion of <=200bp CT - intron_variant ESAD-UK 21 35175038 35175038 single base substitution A G intron_variant ESAD-UK 21 35176203 35176203 single base substitution C T intron_variant ESAD-UK 21 35177173 35177173 deletion of <=200bp A - intron_variant ESAD-UK 21 35179848 35179848 single base substitution A G intron_variant ESAD-UK 21 35179848 35179848 single base substitution A G upstream_gene_variant ESAD-UK 21 35180056 35180056 single base substitution G A intron_variant ESAD-UK 21 35180056 35180056 single base substitution G A upstream_gene_variant ESAD-UK 21 35180627 35180627 single base substitution G A intron_variant ESAD-UK 21 35180627 35180627 single base substitution G A upstream_gene_variant ESAD-UK 21 35183895 35183895 deletion of <=200bp T - intron_variant ESAD-UK 21 35186864 35186864 single base substitution G T downstream_gene_variant ESAD-UK 21 35186864 35186864 single base substitution G T intron_variant ESAD-UK 21 35186864 35186864 single base substitution G T upstream_gene_variant ESAD-UK 21 35187539 35187539 single base substitution C T downstream_gene_variant ESAD-UK 21 35187539 35187539 single base substitution C T intron_variant ESAD-UK 21 35187539 35187539 single base substitution C T upstream_gene_variant ESAD-UK 21 35190282 35190282 single base substitution G A downstream_gene_variant ESAD-UK 21 35190282 35190282 single base substitution G A intron_variant ESAD-UK 21 35190282 35190282 single base substitution G A upstream_gene_variant ESAD-UK 21 35190586 35190586 single base substitution G C downstream_gene_variant ESAD-UK 21 35190586 35190586 single base substitution G C exon_variant ESAD-UK 21 35190586 35190586 single base substitution G C intron_variant ESAD-UK 21 35190586 35190586 single base substitution G C missense_variant G873R 2617G>C ESAD-UK 21 35190586 35190586 single base substitution G C missense_variant G910R 2728G>C ESAD-UK 21 35190586 35190586 single base substitution G C missense_variant G915R 2743G>C ESAD-UK 21 35190586 35190586 single base substitution G C upstream_gene_variant ESAD-UK 21 35190757 35190757 single base substitution C T downstream_gene_variant ESAD-UK 21 35190757 35190757 single base substitution C T exon_variant ESAD-UK 21 35190757 35190757 single base substitution C T intron_variant ESAD-UK 21 35190757 35190757 single base substitution C T missense_variant P930S 2788C>T ESAD-UK 21 35190757 35190757 single base substitution C T missense_variant P967S 2899C>T ESAD-UK 21 35190757 35190757 single base substitution C T missense_variant P972S 2914C>T ESAD-UK 21 35194241 35194241 single base substitution A G downstream_gene_variant ESAD-UK 21 35194241 35194241 single base substitution A G intron_variant ESAD-UK 21 35194972 35194972 single base substitution T G downstream_gene_variant ESAD-UK 21 35194972 35194972 single base substitution T G intron_variant ESAD-UK 21 35198712 35198712 single base substitution G A intron_variant ESAD-UK 21 35198712 35198712 single base substitution G A upstream_gene_variant ESAD-UK 21 35199865 35199865 single base substitution C T intron_variant ESAD-UK 21 35199865 35199865 single base substitution C T upstream_gene_variant ESAD-UK 21 35201299 35201299 single base substitution A T 3_prime_UTR_variant ESAD-UK 21 35201299 35201299 single base substitution A T exon_variant ESAD-UK 21 35201299 35201299 single base substitution A T intron_variant ESAD-UK 21 35201299 35201299 single base substitution A T upstream_gene_variant ESAD-UK 21 35202470 35202470 single base substitution G A downstream_gene_variant ESAD-UK 21 35202470 35202470 single base substitution G A intron_variant ESAD-UK 21 35209204 35209204 single base substitution G T downstream_gene_variant ESAD-UK 21 35209204 35209204 single base substitution G T intron_variant ESAD-UK 21 35215042 35215042 single base substitution C G downstream_gene_variant ESAD-UK 21 35215042 35215042 single base substitution C G intron_variant ESAD-UK 21 35215984 35215984 single base substitution C T intron_variant ESAD-UK 21 35216330 35216330 single base substitution G T intron_variant ESAD-UK 21 35219221 35219221 single base substitution C T intron_variant ESAD-UK 21 35221378 35221378 single base substitution C G intron_variant ESAD-UK 21 35223135 35223135 single base substitution G T intron_variant ESAD-UK 21 35223443 35223443 single base substitution G A intron_variant ESAD-UK 21 35224150 35224150 single base substitution C A intron_variant ESAD-UK 21 35224876 35224876 insertion of <=200bp - A intron_variant ESAD-UK 21 35225593 35225593 single base substitution C T intron_variant ESAD-UK 21 35225663 35225663 single base substitution C T intron_variant ESAD-UK 21 35225886 35225886 single base substitution G A intron_variant ESAD-UK 21 35225904 35225904 single base substitution G A intron_variant ESAD-UK 21 35226207 35226207 single base substitution G A intron_variant ESAD-UK 21 35226207 35226207 single base substitution G A upstream_gene_variant ESAD-UK 21 35227639 35227639 single base substitution G T intron_variant ESAD-UK 21 35227639 35227639 single base substitution G T upstream_gene_variant ESAD-UK 21 35227713 35227713 single base substitution G T intron_variant ESAD-UK 21 35227713 35227713 single base substitution G T upstream_gene_variant ESAD-UK 21 35229205 35229205 single base substitution C T downstream_gene_variant ESAD-UK 21 35229205 35229205 single base substitution C T intron_variant ESAD-UK 21 35229205 35229205 single base substitution C T upstream_gene_variant ESAD-UK 21 35229603 35229603 single base substitution G A downstream_gene_variant ESAD-UK 21 35229603 35229603 single base substitution G A intron_variant ESAD-UK 21 35229603 35229603 single base substitution G A upstream_gene_variant ESAD-UK 21 35230168 35230168 single base substitution C T downstream_gene_variant ESAD-UK 21 35230168 35230168 single base substitution C T intron_variant ESAD-UK 21 35230168 35230168 single base substitution C T upstream_gene_variant ESAD-UK 21 35231260 35231260 single base substitution C T downstream_gene_variant ESAD-UK 21 35231260 35231260 single base substitution C T intron_variant ESAD-UK 21 35231448 35231448 single base substitution C T downstream_gene_variant ESAD-UK 21 35231448 35231448 single base substitution C T intron_variant ESAD-UK 21 35231561 35231561 single base substitution G A downstream_gene_variant ESAD-UK 21 35231561 35231561 single base substitution G A intron_variant ESAD-UK 21 35232121 35232121 single base substitution G A downstream_gene_variant ESAD-UK 21 35232121 35232121 single base substitution G A intron_variant ESAD-UK 21 35234555 35234555 single base substitution T C intron_variant ESAD-UK 21 35235991 35235991 single base substitution A G intron_variant ESAD-UK 21 35236133 35236133 single base substitution G T intron_variant ESAD-UK 21 35236653 35236653 single base substitution G A intron_variant ESAD-UK 21 35238203 35238203 single base substitution C T intron_variant ESAD-UK 21 35239603 35239603 single base substitution C T 3_prime_UTR_variant ESAD-UK 21 35239603 35239603 single base substitution C T missense_variant R116W 346C>T ESAD-UK 21 35239603 35239603 single base substitution C T missense_variant R1376W 4126C>T ESAD-UK 21 35239603 35239603 single base substitution C T missense_variant R1381W 4141C>T ESAD-UK 21 35242691 35242691 deletion of <=200bp A - intron_variant ESAD-UK 21 35242691 35242691 deletion of <=200bp A - upstream_gene_variant ESAD-UK 21 35242691 35242691 single base substitution A G intron_variant ESAD-UK 21 35242691 35242691 single base substitution A G upstream_gene_variant ESAD-UK 21 35243150 35243150 single base substitution G A intron_variant ESAD-UK 21 35243150 35243150 single base substitution G A upstream_gene_variant ESAD-UK 21 35244646 35244646 single base substitution G A intron_variant ESAD-UK 21 35244646 35244646 single base substitution G A upstream_gene_variant ESAD-UK 21 35250510 35250510 insertion of <=200bp - T intron_variant ESAD-UK 21 35251274 35251274 single base substitution C T intron_variant ESAD-UK 21 35251531 35251531 single base substitution T A intron_variant ESAD-UK 21 35252203 35252203 single base substitution C G intron_variant ESAD-UK 21 35252877 35252877 single base substitution C A intron_variant ESAD-UK 21 35254351 35254351 single base substitution T A intron_variant ESAD-UK 21 35255038 35255038 single base substitution A C intron_variant ESAD-UK 21 35255240 35255240 single base substitution T C intron_variant ESAD-UK 21 35255291 35255291 single base substitution C T intron_variant ESAD-UK 21 35256319 35256319 single base substitution C A intron_variant ESAD-UK 21 35257038 35257038 single base substitution C T intron_variant ESAD-UK 21 35257323 35257323 single base substitution T G intron_variant ESAD-UK 21 35257413 35257413 single base substitution A G 3_prime_UTR_variant ESAD-UK 21 35257413 35257413 single base substitution A G missense_variant E118G 353A>G ESAD-UK 21 35257413 35257413 single base substitution A G missense_variant E1521G 4562A>G ESAD-UK 21 35257413 35257413 single base substitution A G missense_variant E1577G 4730A>G ESAD-UK 21 35257413 35257413 single base substitution A G missense_variant E1582G 4745A>G ESAD-UK 21 35257413 35257413 single base substitution A G missense_variant E261G 782A>G ESAD-UK 21 35260486 35260486 single base substitution C T 3_prime_UTR_variant ESAD-UK 21 35260486 35260486 single base substitution C T downstream_gene_variant ESAD-UK 21 35260486 35260486 single base substitution C T missense_variant A1622V 4865C>T ESAD-UK 21 35260486 35260486 single base substitution C T missense_variant A1678V 5033C>T ESAD-UK 21 35260486 35260486 single base substitution C T missense_variant A1683V 5048C>T ESAD-UK 21 35261234 35261234 single base substitution T C 3_prime_UTR_variant ESAD-UK 21 35261234 35261234 single base substitution T C downstream_gene_variant ESAD-UK 21 35262821 35262821 single base substitution T C 3_prime_UTR_variant ESAD-UK 21 35262821 35262821 single base substitution T C downstream_gene_variant ESAD-UK 21 35262880 35262880 single base substitution A C 3_prime_UTR_variant ESAD-UK 21 35262880 35262880 single base substitution A C downstream_gene_variant ESAD-UK 21 35263745 35263745 single base substitution C T 3_prime_UTR_variant ESAD-UK 21 35263745 35263745 single base substitution C T downstream_gene_variant ESAD-UK 21 35264783 35264783 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 21 35264783 35264783 deletion of <=200bp T - downstream_gene_variant ESAD-UK 21 35265048 35265048 single base substitution C G 3_prime_UTR_variant ESAD-UK 21 35265048 35265048 single base substitution C G downstream_gene_variant ESAD-UK 21 35265388 35265388 single base substitution C A 3_prime_UTR_variant ESAD-UK 21 35265388 35265388 single base substitution C A downstream_gene_variant ESAD-UK 21 35266770 35266770 single base substitution C T 3_prime_UTR_variant ESAD-UK 21 35266773 35266773 single base substitution C A 3_prime_UTR_variant ESAD-UK 21 35267014 35267014 single base substitution C G 3_prime_UTR_variant ESAD-UK 21 35267632 35267632 single base substitution C A 3_prime_UTR_variant ESAD-UK 21 35271835 35271835 single base substitution C T 3_prime_UTR_variant ESAD-UK 21 35273025 35273025 single base substitution C T downstream_gene_variant ESAD-UK 21 35273507 35273507 insertion of <=200bp - TG downstream_gene_variant ESAD-UK 21 35274312 35274312 single base substitution C T downstream_gene_variant ESAD-UK 21 35274377 35274377 single base substitution C T downstream_gene_variant ESAD-UK 21 35275517 35275517 single base substitution A G downstream_gene_variant ESAD-UK 21 35275702 35275702 single base substitution A C downstream_gene_variant ESAD-UK 21 35277055 35277055 deletion of <=200bp T - downstream_gene_variant ESCA-CN 21 35195916 35195916 single base substitution G A exon_variant ESCA-CN 21 35195916 35195916 single base substitution G A intron_variant ESCA-CN 21 35195916 35195916 single base substitution G A missense_variant G1006R 3016G>A ESCA-CN 21 35195916 35195916 single base substitution G A missense_variant G1043R 3127G>A ESCA-CN 21 35195916 35195916 single base substitution G A missense_variant G1048R 3142G>A ESCA-CN 21 35201281 35201281 single base substitution G A exon_variant ESCA-CN 21 35201281 35201281 single base substitution G A intron_variant ESCA-CN 21 35201281 35201281 single base substitution G A upstream_gene_variant ESCA-CN 21 35255868 35255868 single base substitution T C 3_prime_UTR_variant ESCA-CN 21 35255868 35255868 single base substitution T C intron_variant ESCA-CN 21 35255868 35255868 single base substitution T C synonymous_variant N1462N 4386T>C ESCA-CN 21 35255868 35255868 single base substitution T C synonymous_variant N1518N 4554T>C ESCA-CN 21 35255868 35255868 single base substitution T C synonymous_variant N1523N 4569T>C ESCA-CN 21 35255868 35255868 single base substitution T C synonymous_variant N202N 606T>C ESCA-CN 21 35255868 35255868 single base substitution T C synonymous_variant N59N 177T>C GACA-CN 21 35122576 35122576 single base substitution G A intron_variant GACA-CN 21 35122576 35122576 single base substitution G A missense_variant A122T 364G>A GACA-CN 21 35122576 35122576 single base substitution G A missense_variant A159T 475G>A GACA-CN 21 35122576 35122576 single base substitution G A upstream_gene_variant GACA-CN 21 35154299 35154299 single base substitution A G splice_region_variant GBM-US 21 35174748 35174748 single base substitution G A intron_variant GBM-US 21 35174748 35174748 single base substitution G A splice_region_variant GBM-US 21 35174748 35174748 single base substitution G A stop_gained W7* 21G>A GBM-US 21 35174748 35174748 single base substitution G A stop_gained W773* 2319G>A GBM-US 21 35206635 35206635 single base substitution G A 3_prime_UTR_variant GBM-US 21 35206635 35206635 single base substitution G A downstream_gene_variant GBM-US 21 35206635 35206635 single base substitution G A exon_variant GBM-US 21 35206635 35206635 single base substitution G A intron_variant GBM-US 21 35206635 35206635 single base substitution G A missense_variant G1050S 3148G>A GBM-US 21 35206635 35206635 single base substitution G A missense_variant G1055S 3163G>A GBM-US 21 35206635 35206635 single base substitution G A missense_variant G1084S 3250G>A GBM-US 21 35206635 35206635 single base substitution G A missense_variant G1121S 3361G>A GBM-US 21 35206635 35206635 single base substitution G A missense_variant G1126S 3376G>A GBM-US 21 35230998 35230998 single base substitution A G 3_prime_UTR_variant GBM-US 21 35230998 35230998 single base substitution A G downstream_gene_variant GBM-US 21 35230998 35230998 single base substitution A G synonymous_variant Q1259Q 3777A>G GBM-US 21 35230998 35230998 single base substitution A G synonymous_variant Q1264Q 3792A>G GBM-US 21 35230998 35230998 single base substitution A G upstream_gene_variant GBM-US 21 35231057 35231057 single base substitution A C 3_prime_UTR_variant GBM-US 21 35231057 35231057 single base substitution A C downstream_gene_variant GBM-US 21 35231057 35231057 single base substitution A C missense_variant N1279T 3836A>C GBM-US 21 35231057 35231057 single base substitution A C missense_variant N1284T 3851A>C GBM-US 21 35231057 35231057 single base substitution A C missense_variant N19T 56A>C GBM-US 21 35254584 35254584 single base substitution C T 3_prime_UTR_variant GBM-US 21 35254584 35254584 single base substitution C T intron_variant GBM-US 21 35254584 35254584 single base substitution C T missense_variant P1399L 4196C>T GBM-US 21 35254584 35254584 single base substitution C T missense_variant P139L 416C>T GBM-US 21 35254584 35254584 single base substitution C T missense_variant P1455L 4364C>T GBM-US 21 35254584 35254584 single base substitution C T missense_variant P1460L 4379C>T KIRC-US 21 35144369 35144369 single base substitution G C exon_variant KIRC-US 21 35144369 35144369 single base substitution G C synonymous_variant T289T 867G>C KIRC-US 21 35144369 35144369 single base substitution G C synonymous_variant T312T 936G>C KIRC-US 21 35144369 35144369 single base substitution G C synonymous_variant T349T 1047G>C KIRC-US 21 35144369 35144369 single base substitution G C upstream_gene_variant KIRC-US 21 35153771 35153771 single base substitution C A missense_variant Q498K 1492C>A KIRC-US 21 35153771 35153771 single base substitution C A missense_variant Q535K 1603C>A KIRC-US 21 35254745 35254745 deletion of <=200bp A - 3_prime_UTR_variant KIRC-US 21 35254745 35254745 deletion of <=200bp A - frameshift_variant K1453 KIRC-US 21 35254745 35254745 deletion of <=200bp A - frameshift_variant K1509 KIRC-US 21 35254745 35254745 deletion of <=200bp A - frameshift_variant K1514 KIRC-US 21 35254745 35254745 deletion of <=200bp A - frameshift_variant K193 KIRC-US 21 35254745 35254745 deletion of <=200bp A - intron_variant KIRP-US 21 35239577 35239577 single base substitution C A 3_prime_UTR_variant KIRP-US 21 35239577 35239577 single base substitution C A missense_variant S107Y 320C>A KIRP-US 21 35239577 35239577 single base substitution C A missense_variant S1367Y 4100C>A KIRP-US 21 35239577 35239577 single base substitution C A missense_variant S1372Y 4115C>A LAML-KR 21 35122725 35122725 single base substitution A G intron_variant LAML-KR 21 35122725 35122725 single base substitution A G upstream_gene_variant LAML-KR 21 35206175 35206175 single base substitution C A downstream_gene_variant LAML-KR 21 35206175 35206175 single base substitution C A intron_variant LAML-KR 21 35246215 35246215 single base substitution A C intron_variant LAML-KR 21 35246215 35246215 single base substitution A C upstream_gene_variant LAML-KR 21 35248422 35248422 single base substitution T C intron_variant LAML-KR 21 35257184 35257184 single base substitution G A intron_variant LAML-KR 21 35276389 35276389 single base substitution A C downstream_gene_variant LGG-US 21 35094910 35094910 deletion of <=200bp T - downstream_gene_variant LGG-US 21 35094910 35094910 deletion of <=200bp T - frameshift_variant F47 LGG-US 21 35183494 35183494 single base substitution G A 3_prime_UTR_variant LGG-US 21 35183494 35183494 single base substitution G A synonymous_variant T79T 237G>A LGG-US 21 35183494 35183494 single base substitution G A synonymous_variant T803T 2409G>A LGG-US 21 35183494 35183494 single base substitution G A synonymous_variant T840T 2520G>A LGG-US 21 35183494 35183494 single base substitution G A synonymous_variant T845T 2535G>A LGG-US 21 35183494 35183494 single base substitution G A upstream_gene_variant LICA-CN 21 35172168 35172168 single base substitution G C exon_variant LICA-CN 21 35172168 35172168 single base substitution G C missense_variant A710P 2128G>C LICA-CN 21 35172168 35172168 single base substitution G C missense_variant A747P 2239G>C LICA-CN 21 35172168 35172168 single base substitution G C upstream_gene_variant LICA-FR 21 35012132 35012132 insertion of <=200bp - TT upstream_gene_variant LICA-FR 21 35012132 35012132 insertion of <=200bp - T upstream_gene_variant LICA-FR 21 35019029 35019029 single base substitution A T intron_variant LICA-FR 21 35022337 35022337 insertion of <=200bp - A intron_variant LICA-FR 21 35039501 35039501 single base substitution A G intron_variant LICA-FR 21 35052030 35052030 single base substitution A G intron_variant LICA-FR 21 35058267 35058267 single base substitution A G intron_variant LICA-FR 21 35066905 35066905 single base substitution C T intron_variant LICA-FR 21 35088261 35088261 single base substitution A G intron_variant LICA-FR 21 35088261 35088261 single base substitution A G upstream_gene_variant LICA-FR 21 35090231 35090231 single base substitution G C intron_variant LICA-FR 21 35090231 35090231 single base substitution G C upstream_gene_variant LICA-FR 21 35093723 35093723 insertion of <=200bp - T intron_variant LICA-FR 21 35117012 35117012 deletion of <=200bp A - intron_variant LICA-FR 21 35121295 35121295 deletion of <=200bp T - intron_variant LICA-FR 21 35130210 35130210 single base substitution C A intron_variant LICA-FR 21 35147404 35147404 single base substitution C T downstream_gene_variant LICA-FR 21 35147404 35147404 single base substitution C T stop_gained Q493* 1477C>T LICA-FR 21 35147404 35147404 single base substitution C T stop_gained Q530* 1588C>T LICA-FR 21 35148691 35148691 insertion of <=200bp - A downstream_gene_variant LICA-FR 21 35148691 35148691 insertion of <=200bp - A intron_variant LICA-FR 21 35199156 35199156 single base substitution G T exon_variant LICA-FR 21 35199156 35199156 single base substitution G T intron_variant LICA-FR 21 35199156 35199156 single base substitution G T missense_variant G1031V 3092G>T LICA-FR 21 35199156 35199156 single base substitution G T missense_variant G1068V 3203G>T LICA-FR 21 35199156 35199156 single base substitution G T missense_variant G1073V 3218G>T LICA-FR 21 35199156 35199156 single base substitution G T missense_variant R1012S 3036G>T LICA-FR 21 35199156 35199156 single base substitution G T upstream_gene_variant LICA-FR 21 35199157 35199157 insertion of <=200bp - A exon_variant LICA-FR 21 35199157 35199157 insertion of <=200bp - A frameshift_variant G1031G? LICA-FR 21 35199157 35199157 insertion of <=200bp - A frameshift_variant G1068G? LICA-FR 21 35199157 35199157 insertion of <=200bp - A frameshift_variant G1073G? LICA-FR 21 35199157 35199157 insertion of <=200bp - A frameshift_variant K1013K? LICA-FR 21 35199157 35199157 insertion of <=200bp - A intron_variant LICA-FR 21 35199157 35199157 insertion of <=200bp - A upstream_gene_variant LICA-FR 21 35237469 35237469 single base substitution G T 3_prime_UTR_variant LICA-FR 21 35237469 35237469 single base substitution G T missense_variant R1297L 3890G>T LICA-FR 21 35237469 35237469 single base substitution G T missense_variant R1302L 3905G>T LICA-FR 21 35237469 35237469 single base substitution G T missense_variant R37L 110G>T LICA-FR 21 35255672 35255672 single base substitution C T intron_variant LIHC-US 21 35134244 35134244 single base substitution A G exon_variant LIHC-US 21 35134244 35134244 single base substitution A G missense_variant I188V 562A>G LIHC-US 21 35134244 35134244 single base substitution A G missense_variant I211V 631A>G LIHC-US 21 35134244 35134244 single base substitution A G missense_variant I248V 742A>G LIHC-US 21 35166772 35166772 single base substitution G T missense_variant R614I 1841G>T LIHC-US 21 35166772 35166772 single base substitution G T missense_variant R651I 1952G>T LIHC-US 21 35166772 35166772 single base substitution G T upstream_gene_variant LIHC-US 21 35169914 35169914 single base substitution T C splice_donor_variant LIHC-US 21 35169914 35169914 single base substitution T C upstream_gene_variant LIHC-US 21 35172168 35172168 single base substitution G A exon_variant LIHC-US 21 35172168 35172168 single base substitution G A missense_variant A710T 2128G>A LIHC-US 21 35172168 35172168 single base substitution G A missense_variant A747T 2239G>A LIHC-US 21 35172168 35172168 single base substitution G A upstream_gene_variant LIHC-US 21 35183471 35183471 single base substitution G T 3_prime_UTR_variant LIHC-US 21 35183471 35183471 single base substitution G T missense_variant V72L 214G>T LIHC-US 21 35183471 35183471 single base substitution G T missense_variant V796L 2386G>T LIHC-US 21 35183471 35183471 single base substitution G T missense_variant V833L 2497G>T LIHC-US 21 35183471 35183471 single base substitution G T missense_variant V838L 2512G>T LIHC-US 21 35183471 35183471 single base substitution G T upstream_gene_variant LIHC-US 21 35208755 35208755 single base substitution G A 3_prime_UTR_variant LIHC-US 21 35208755 35208755 single base substitution G A downstream_gene_variant LIHC-US 21 35208755 35208755 single base substitution G A exon_variant LIHC-US 21 35208755 35208755 single base substitution G A intron_variant LIHC-US 21 35208755 35208755 single base substitution G A synonymous_variant V1084V 3252G>A LIHC-US 21 35208755 35208755 single base substitution G A synonymous_variant V1089V 3267G>A LIHC-US 21 35208755 35208755 single base substitution G A synonymous_variant V1118V 3354G>A LIHC-US 21 35208755 35208755 single base substitution G A synonymous_variant V1155V 3465G>A LIHC-US 21 35208755 35208755 single base substitution G A synonymous_variant V1160V 3480G>A LIHC-US 21 35258604 35258604 single base substitution G A 3_prime_UTR_variant LIHC-US 21 35258604 35258604 single base substitution G A synonymous_variant P1558P 4674G>A LIHC-US 21 35258604 35258604 single base substitution G A synonymous_variant P155P 465G>A LIHC-US 21 35258604 35258604 single base substitution G A synonymous_variant P1614P 4842G>A LIHC-US 21 35258604 35258604 single base substitution G A synonymous_variant P1619P 4857G>A LIHC-US 21 35258604 35258604 single base substitution G A synonymous_variant P298P 894G>A LINC-JP 21 35013584 35013584 single base substitution A T upstream_gene_variant LINC-JP 21 35037778 35037778 single base substitution T A intron_variant LINC-JP 21 35045125 35045125 single base substitution T G intron_variant LINC-JP 21 35046950 35046951 deletion of <=200bp AT - intron_variant LINC-JP 21 35051268 35051268 single base substitution G T intron_variant LINC-JP 21 35066957 35066957 single base substitution C A intron_variant LINC-JP 21 35068945 35068945 single base substitution A G intron_variant LINC-JP 21 35072373 35072373 deletion of <=200bp T - intron_variant LINC-JP 21 35084159 35084159 single base substitution A G intron_variant LINC-JP 21 35091071 35091071 single base substitution A G intron_variant LINC-JP 21 35091071 35091071 single base substitution A G upstream_gene_variant LINC-JP 21 35107743 35107743 single base substitution G T 3_prime_UTR_variant LINC-JP 21 35107743 35107743 single base substitution G T downstream_gene_variant LINC-JP 21 35107743 35107743 single base substitution G T intron_variant LINC-JP 21 35111306 35111306 single base substitution C T downstream_gene_variant LINC-JP 21 35111306 35111306 single base substitution C T intron_variant LINC-JP 21 35135673 35135673 single base substitution A G intron_variant LINC-JP 21 35136978 35136978 single base substitution A G intron_variant LINC-JP 21 35153969 35153969 single base substitution C A intron_variant LINC-JP 21 35157630 35157630 single base substitution A T intron_variant LINC-JP 21 35160893 35160893 single base substitution G C intron_variant LINC-JP 21 35166126 35166126 single base substitution G T intron_variant LINC-JP 21 35166126 35166126 single base substitution G T upstream_gene_variant LINC-JP 21 35166928 35166928 single base substitution G T intron_variant LINC-JP 21 35166928 35166928 single base substitution G T upstream_gene_variant LINC-JP 21 35166929 35166929 single base substitution A T intron_variant LINC-JP 21 35166929 35166929 single base substitution A T upstream_gene_variant LINC-JP 21 35182628 35182628 single base substitution A C intron_variant LINC-JP 21 35182628 35182628 single base substitution A C upstream_gene_variant LINC-JP 21 35202117 35202117 single base substitution G A downstream_gene_variant LINC-JP 21 35202117 35202117 single base substitution G A intron_variant LINC-JP 21 35208770 35208770 single base substitution C T 3_prime_UTR_variant LINC-JP 21 35208770 35208770 single base substitution C T downstream_gene_variant LINC-JP 21 35208770 35208770 single base substitution C T exon_variant LINC-JP 21 35208770 35208770 single base substitution C T intron_variant LINC-JP 21 35208770 35208770 single base substitution C T synonymous_variant D1089D 3267C>T LINC-JP 21 35208770 35208770 single base substitution C T synonymous_variant D1094D 3282C>T LINC-JP 21 35208770 35208770 single base substitution C T synonymous_variant D1123D 3369C>T LINC-JP 21 35208770 35208770 single base substitution C T synonymous_variant D1160D 3480C>T LINC-JP 21 35208770 35208770 single base substitution C T synonymous_variant D1165D 3495C>T LINC-JP 21 35215844 35215844 single base substitution C A intron_variant LINC-JP 21 35220128 35220128 single base substitution G A intron_variant LINC-JP 21 35233003 35233003 single base substitution G A downstream_gene_variant LINC-JP 21 35233003 35233003 single base substitution G A intron_variant LINC-JP 21 35237384 35237384 single base substitution C A intron_variant LINC-JP 21 35238585 35238585 single base substitution C A intron_variant LINC-JP 21 35245204 35245204 single base substitution C T intron_variant LINC-JP 21 35245204 35245204 single base substitution C T upstream_gene_variant LINC-JP 21 35275977 35275977 single base substitution G A downstream_gene_variant LIRI-JP 21 35009876 35009877 deletion of <=200bp CC - upstream_gene_variant LIRI-JP 21 35010974 35010974 single base substitution C A upstream_gene_variant LIRI-JP 21 35013087 35013087 single base substitution T C upstream_gene_variant LIRI-JP 21 35021817 35021817 single base substitution G A intron_variant LIRI-JP 21 35022132 35022132 single base substitution C T intron_variant LIRI-JP 21 35025990 35025990 single base substitution A T intron_variant LIRI-JP 21 35027573 35027573 single base substitution C T intron_variant LIRI-JP 21 35028061 35028061 single base substitution A G intron_variant LIRI-JP 21 35028216 35028216 single base substitution T G intron_variant LIRI-JP 21 35028961 35028961 single base substitution C T intron_variant LIRI-JP 21 35029877 35029877 insertion of <=200bp - C intron_variant LIRI-JP 21 35030110 35030110 single base substitution G C intron_variant LIRI-JP 21 35032531 35032531 single base substitution A G intron_variant LIRI-JP 21 35033258 35033258 single base substitution A G intron_variant LIRI-JP 21 35035510 35035510 single base substitution A T intron_variant LIRI-JP 21 35035779 35035780 deletion of <=200bp GA - intron_variant LIRI-JP 21 35036731 35036731 single base substitution A G intron_variant LIRI-JP 21 35038175 35038175 single base substitution G T intron_variant LIRI-JP 21 35038650 35038650 single base substitution T C intron_variant LIRI-JP 21 35039324 35039324 single base substitution A G intron_variant LIRI-JP 21 35040088 35040088 single base substitution A G intron_variant LIRI-JP 21 35042173 35042173 single base substitution A G intron_variant LIRI-JP 21 35042550 35042550 single base substitution A G intron_variant LIRI-JP 21 35043028 35043028 single base substitution A C intron_variant LIRI-JP 21 35044410 35044410 single base substitution G A intron_variant LIRI-JP 21 35051386 35051386 single base substitution T C intron_variant LIRI-JP 21 35053966 35053966 single base substitution T A intron_variant LIRI-JP 21 35055715 35055715 single base substitution A T intron_variant LIRI-JP 21 35056007 35056007 single base substitution T C intron_variant LIRI-JP 21 35057491 35057491 single base substitution C G intron_variant LIRI-JP 21 35059041 35059041 single base substitution A C intron_variant LIRI-JP 21 35063565 35063565 single base substitution C A intron_variant LIRI-JP 21 35064010 35064010 single base substitution G T intron_variant LIRI-JP 21 35064169 35064169 single base substitution C T intron_variant LIRI-JP 21 35065317 35065317 single base substitution G A intron_variant LIRI-JP 21 35066895 35066895 single base substitution G A intron_variant LIRI-JP 21 35068142 35068142 single base substitution A G intron_variant LIRI-JP 21 35068679 35068679 single base substitution A C intron_variant LIRI-JP 21 35072479 35072479 single base substitution C A intron_variant LIRI-JP 21 35075366 35075366 single base substitution G T intron_variant LIRI-JP 21 35075958 35075958 single base substitution A T intron_variant LIRI-JP 21 35077790 35077790 single base substitution T C intron_variant LIRI-JP 21 35077962 35077962 single base substitution G T intron_variant LIRI-JP 21 35078159 35078159 single base substitution A G intron_variant LIRI-JP 21 35079180 35079180 single base substitution A G intron_variant LIRI-JP 21 35081492 35081492 single base substitution A G intron_variant LIRI-JP 21 35081707 35081707 single base substitution T G intron_variant LIRI-JP 21 35082327 35082327 single base substitution C G intron_variant LIRI-JP 21 35082969 35082969 single base substitution T C intron_variant LIRI-JP 21 35083164 35083164 single base substitution G A intron_variant LIRI-JP 21 35083550 35083550 single base substitution A G intron_variant LIRI-JP 21 35083690 35083690 single base substitution C G intron_variant LIRI-JP 21 35085183 35085183 single base substitution A G intron_variant LIRI-JP 21 35085473 35085473 single base substitution G C intron_variant LIRI-JP 21 35085911 35085912 deletion of <=200bp AT - intron_variant LIRI-JP 21 35092999 35092999 single base substitution A G intron_variant LIRI-JP 21 35093830 35093830 single base substitution A G intron_variant LIRI-JP 21 35096707 35096707 single base substitution C T downstream_gene_variant LIRI-JP 21 35096707 35096707 single base substitution C T intron_variant LIRI-JP 21 35105101 35105101 single base substitution A G intron_variant LIRI-JP 21 35105101 35105101 single base substitution A G upstream_gene_variant LIRI-JP 21 35106016 35106016 single base substitution A G intron_variant LIRI-JP 21 35106016 35106016 single base substitution A G upstream_gene_variant LIRI-JP 21 35107031 35107031 single base substitution A T intron_variant LIRI-JP 21 35107031 35107031 single base substitution A T upstream_gene_variant LIRI-JP 21 35108449 35108449 single base substitution C G downstream_gene_variant LIRI-JP 21 35108449 35108449 single base substitution C G intron_variant LIRI-JP 21 35111509 35111509 single base substitution G A downstream_gene_variant LIRI-JP 21 35111509 35111509 single base substitution G A intron_variant LIRI-JP 21 35111875 35111875 single base substitution A C downstream_gene_variant LIRI-JP 21 35111875 35111875 single base substitution A C intron_variant LIRI-JP 21 35115987 35115987 single base substitution A G intron_variant LIRI-JP 21 35116243 35116243 single base substitution A T intron_variant LIRI-JP 21 35118001 35118001 single base substitution C G intron_variant LIRI-JP 21 35118236 35118236 single base substitution T C intron_variant LIRI-JP 21 35120536 35120536 single base substitution C T intron_variant LIRI-JP 21 35122748 35122748 single base substitution A T intron_variant LIRI-JP 21 35122748 35122748 single base substitution A T upstream_gene_variant LIRI-JP 21 35124347 35124347 single base substitution A G intron_variant LIRI-JP 21 35124347 35124347 single base substitution A G upstream_gene_variant LIRI-JP 21 35125947 35125947 single base substitution A G intron_variant LIRI-JP 21 35125947 35125947 single base substitution A G upstream_gene_variant LIRI-JP 21 35130484 35130484 single base substitution A G intron_variant LIRI-JP 21 35130528 35130528 single base substitution G A intron_variant LIRI-JP 21 35131491 35131491 single base substitution A G intron_variant LIRI-JP 21 35131793 35131793 single base substitution A C intron_variant LIRI-JP 21 35134257 35134257 single base substitution C T exon_variant LIRI-JP 21 35134257 35134257 single base substitution C T missense_variant S192L 575C>T LIRI-JP 21 35134257 35134257 single base substitution C T missense_variant S215L 644C>T LIRI-JP 21 35134257 35134257 single base substitution C T missense_variant S252L 755C>T LIRI-JP 21 35136091 35136091 single base substitution G C intron_variant LIRI-JP 21 35136438 35136438 single base substitution A G intron_variant LIRI-JP 21 35137942 35137942 single base substitution G A intron_variant LIRI-JP 21 35140423 35140423 single base substitution A G intron_variant LIRI-JP 21 35140896 35140896 single base substitution A G intron_variant LIRI-JP 21 35141589 35141589 single base substitution T G intron_variant LIRI-JP 21 35141880 35141880 single base substitution G A intron_variant LIRI-JP 21 35141880 35141880 single base substitution G A upstream_gene_variant LIRI-JP 21 35147500 35147500 single base substitution A G downstream_gene_variant LIRI-JP 21 35147500 35147500 single base substitution A G intron_variant LIRI-JP 21 35147541 35147541 single base substitution G A downstream_gene_variant LIRI-JP 21 35147541 35147541 single base substitution G A intron_variant LIRI-JP 21 35149607 35149607 single base substitution C T downstream_gene_variant LIRI-JP 21 35149607 35149607 single base substitution C T intron_variant LIRI-JP 21 35150758 35150758 single base substitution A G downstream_gene_variant LIRI-JP 21 35150758 35150758 single base substitution A G intron_variant LIRI-JP 21 35151977 35151977 single base substitution C A downstream_gene_variant LIRI-JP 21 35151977 35151977 single base substitution C A intron_variant LIRI-JP 21 35152163 35152163 single base substitution A G downstream_gene_variant LIRI-JP 21 35152163 35152163 single base substitution A G intron_variant LIRI-JP 21 35153004 35153004 single base substitution A C intron_variant LIRI-JP 21 35156051 35156051 single base substitution C T intron_variant LIRI-JP 21 35156352 35156352 single base substitution A C intron_variant LIRI-JP 21 35156355 35156355 single base substitution T G intron_variant LIRI-JP 21 35156364 35156364 deletion of <=200bp T - intron_variant LIRI-JP 21 35158969 35158969 single base substitution A T intron_variant LIRI-JP 21 35159243 35159243 single base substitution A G intron_variant LIRI-JP 21 35159359 35159359 single base substitution A G intron_variant LIRI-JP 21 35161283 35161283 single base substitution A G intron_variant LIRI-JP 21 35162651 35162651 single base substitution A G intron_variant LIRI-JP 21 35164312 35164312 single base substitution A G intron_variant LIRI-JP 21 35164883 35164883 single base substitution A G intron_variant LIRI-JP 21 35164883 35164883 single base substitution A G upstream_gene_variant LIRI-JP 21 35165478 35165478 deletion of <=200bp T - intron_variant LIRI-JP 21 35165478 35165478 deletion of <=200bp T - upstream_gene_variant LIRI-JP 21 35167196 35167196 single base substitution A G intron_variant LIRI-JP 21 35167196 35167196 single base substitution A G upstream_gene_variant LIRI-JP 21 35168163 35168163 single base substitution T G intron_variant LIRI-JP 21 35168163 35168163 single base substitution T G upstream_gene_variant LIRI-JP 21 35169589 35169589 single base substitution C G intron_variant LIRI-JP 21 35169589 35169589 single base substitution C G upstream_gene_variant LIRI-JP 21 35169935 35169935 single base substitution A G intron_variant LIRI-JP 21 35169935 35169935 single base substitution A G upstream_gene_variant LIRI-JP 21 35170006 35170006 single base substitution C T intron_variant LIRI-JP 21 35170006 35170006 single base substitution C T upstream_gene_variant LIRI-JP 21 35170148 35170148 single base substitution A G intron_variant LIRI-JP 21 35170148 35170148 single base substitution A G upstream_gene_variant LIRI-JP 21 35171263 35171263 deletion of <=200bp T - intron_variant LIRI-JP 21 35171263 35171263 deletion of <=200bp T - upstream_gene_variant LIRI-JP 21 35171909 35171909 single base substitution C G intron_variant LIRI-JP 21 35171909 35171909 single base substitution C G upstream_gene_variant LIRI-JP 21 35174830 35174830 single base substitution C A intron_variant LIRI-JP 21 35174856 35174856 single base substitution A T intron_variant LIRI-JP 21 35174870 35174870 single base substitution T G intron_variant LIRI-JP 21 35174891 35174891 single base substitution G A intron_variant LIRI-JP 21 35176439 35176439 single base substitution G C intron_variant LIRI-JP 21 35177044 35177044 single base substitution A G intron_variant LIRI-JP 21 35178872 35178872 deletion of <=200bp T - intron_variant LIRI-JP 21 35178872 35178872 deletion of <=200bp T - upstream_gene_variant LIRI-JP 21 35180082 35180082 single base substitution A G intron_variant LIRI-JP 21 35180082 35180082 single base substitution A G upstream_gene_variant LIRI-JP 21 35182271 35182271 single base substitution A G intron_variant LIRI-JP 21 35182271 35182271 single base substitution A G upstream_gene_variant LIRI-JP 21 35184631 35184631 single base substitution A G intron_variant LIRI-JP 21 35188284 35188284 single base substitution G A downstream_gene_variant LIRI-JP 21 35188284 35188284 single base substitution G A intron_variant LIRI-JP 21 35188284 35188284 single base substitution G A upstream_gene_variant LIRI-JP 21 35188584 35188584 single base substitution T G downstream_gene_variant LIRI-JP 21 35188584 35188584 single base substitution T G intron_variant LIRI-JP 21 35188584 35188584 single base substitution T G upstream_gene_variant LIRI-JP 21 35188722 35188722 single base substitution C A downstream_gene_variant LIRI-JP 21 35188722 35188722 single base substitution C A intron_variant LIRI-JP 21 35188722 35188722 single base substitution C A upstream_gene_variant LIRI-JP 21 35190776 35190776 single base substitution G T downstream_gene_variant LIRI-JP 21 35190776 35190776 single base substitution G T intron_variant LIRI-JP 21 35190776 35190776 single base substitution G T missense_variant S936I 2807G>T LIRI-JP 21 35190776 35190776 single base substitution G T missense_variant S973I 2918G>T LIRI-JP 21 35190776 35190776 single base substitution G T missense_variant S978I 2933G>T LIRI-JP 21 35190776 35190776 single base substitution G T splice_region_variant LIRI-JP 21 35190869 35190869 single base substitution C T downstream_gene_variant LIRI-JP 21 35190869 35190869 single base substitution C T intron_variant LIRI-JP 21 35191922 35191922 deletion of <=200bp T - downstream_gene_variant LIRI-JP 21 35191922 35191922 deletion of <=200bp T - intron_variant LIRI-JP 21 35193512 35193512 single base substitution A G downstream_gene_variant LIRI-JP 21 35193512 35193512 single base substitution A G intron_variant LIRI-JP 21 35195029 35195029 single base substitution A G downstream_gene_variant LIRI-JP 21 35195029 35195029 single base substitution A G intron_variant LIRI-JP 21 35195266 35195266 single base substitution A G intron_variant LIRI-JP 21 35197368 35197368 single base substitution A G intron_variant LIRI-JP 21 35197368 35197368 single base substitution A G upstream_gene_variant LIRI-JP 21 35199737 35199737 single base substitution A G intron_variant LIRI-JP 21 35199737 35199737 single base substitution A G upstream_gene_variant LIRI-JP 21 35200575 35200575 single base substitution T A intron_variant LIRI-JP 21 35200575 35200575 single base substitution T A upstream_gene_variant LIRI-JP 21 35201586 35201586 single base substitution C A downstream_gene_variant LIRI-JP 21 35201586 35201586 single base substitution C A exon_variant LIRI-JP 21 35201586 35201586 single base substitution C A intron_variant LIRI-JP 21 35202535 35202535 single base substitution A G downstream_gene_variant LIRI-JP 21 35202535 35202535 single base substitution A G intron_variant LIRI-JP 21 35203660 35203660 single base substitution A G downstream_gene_variant LIRI-JP 21 35203660 35203660 single base substitution A G intron_variant LIRI-JP 21 35203775 35203775 single base substitution C T downstream_gene_variant LIRI-JP 21 35203775 35203775 single base substitution C T intron_variant LIRI-JP 21 35205575 35205575 single base substitution A T downstream_gene_variant LIRI-JP 21 35205575 35205575 single base substitution A T intron_variant LIRI-JP 21 35206399 35206399 single base substitution A G downstream_gene_variant LIRI-JP 21 35206399 35206399 single base substitution A G intron_variant LIRI-JP 21 35209641 35209641 single base substitution T G 3_prime_UTR_variant LIRI-JP 21 35209641 35209641 single base substitution T G downstream_gene_variant LIRI-JP 21 35209641 35209641 single base substitution T G intron_variant LIRI-JP 21 35215986 35215986 single base substitution G A intron_variant LIRI-JP 21 35216852 35216852 single base substitution A C intron_variant LIRI-JP 21 35217545 35217545 single base substitution G T intron_variant LIRI-JP 21 35220742 35220742 single base substitution C T intron_variant LIRI-JP 21 35221014 35221014 single base substitution G A intron_variant LIRI-JP 21 35221024 35221024 single base substitution C A intron_variant LIRI-JP 21 35222420 35222420 single base substitution A G intron_variant LIRI-JP 21 35222743 35222743 single base substitution C T intron_variant LIRI-JP 21 35225593 35225593 single base substitution C T intron_variant LIRI-JP 21 35225956 35225956 single base substitution G T intron_variant LIRI-JP 21 35229108 35229108 single base substitution G A 3_prime_UTR_variant LIRI-JP 21 35229108 35229108 single base substitution G A downstream_gene_variant LIRI-JP 21 35229108 35229108 single base substitution G A missense_variant E1239K 3715G>A LIRI-JP 21 35229108 35229108 single base substitution G A missense_variant E1244K 3730G>A LIRI-JP 21 35229108 35229108 single base substitution G A upstream_gene_variant LIRI-JP 21 35230609 35230609 single base substitution G T downstream_gene_variant LIRI-JP 21 35230609 35230609 single base substitution G T intron_variant LIRI-JP 21 35230609 35230609 single base substitution G T upstream_gene_variant LIRI-JP 21 35231794 35231794 single base substitution A C downstream_gene_variant LIRI-JP 21 35231794 35231794 single base substitution A C intron_variant LIRI-JP 21 35231975 35231976 deletion of <=200bp TC - downstream_gene_variant LIRI-JP 21 35231975 35231976 deletion of <=200bp TC - intron_variant LIRI-JP 21 35239317 35239317 single base substitution C A intron_variant LIRI-JP 21 35241864 35241864 single base substitution T C intron_variant LIRI-JP 21 35241913 35241913 single base substitution G A intron_variant LIRI-JP 21 35242682 35242682 single base substitution A C intron_variant LIRI-JP 21 35242682 35242682 single base substitution A C upstream_gene_variant LIRI-JP 21 35249295 35249295 single base substitution A G intron_variant LIRI-JP 21 35253774 35253774 single base substitution C T intron_variant LIRI-JP 21 35256080 35256080 single base substitution C T intron_variant LIRI-JP 21 35256715 35256715 single base substitution A T intron_variant LIRI-JP 21 35256892 35256892 single base substitution G T intron_variant LIRI-JP 21 35256913 35256913 single base substitution A T intron_variant LIRI-JP 21 35259065 35259065 single base substitution T C downstream_gene_variant LIRI-JP 21 35259065 35259065 single base substitution T C intron_variant LIRI-JP 21 35268800 35268800 single base substitution G T 3_prime_UTR_variant LIRI-JP 21 35269157 35269157 single base substitution A G 3_prime_UTR_variant LIRI-JP 21 35269734 35269734 single base substitution G C 3_prime_UTR_variant LIRI-JP 21 35270138 35270138 single base substitution T G 3_prime_UTR_variant LIRI-JP 21 35273387 35273387 single base substitution T C downstream_gene_variant LUSC-KR 21 35013449 35013449 single base substitution G C upstream_gene_variant LUSC-KR 21 35019572 35019572 single base substitution A T intron_variant LUSC-KR 21 35025945 35025945 single base substitution C T intron_variant LUSC-KR 21 35027565 35027565 single base substitution A G intron_variant LUSC-KR 21 35030682 35030682 single base substitution C G intron_variant LUSC-KR 21 35038253 35038253 single base substitution G C intron_variant LUSC-KR 21 35038938 35038938 single base substitution G C intron_variant LUSC-KR 21 35040058 35040058 single base substitution C G intron_variant LUSC-KR 21 35043670 35043670 single base substitution G C intron_variant LUSC-KR 21 35046247 35046247 single base substitution C T intron_variant LUSC-KR 21 35048167 35048167 single base substitution G C intron_variant LUSC-KR 21 35052655 35052655 single base substitution G T intron_variant LUSC-KR 21 35054121 35054121 single base substitution G T intron_variant LUSC-KR 21 35078956 35078956 single base substitution G A intron_variant LUSC-KR 21 35092298 35092298 single base substitution T C intron_variant LUSC-KR 21 35092573 35092573 single base substitution G T intron_variant LUSC-KR 21 35095099 35095099 single base substitution G T downstream_gene_variant LUSC-KR 21 35095099 35095099 single base substitution G T intron_variant LUSC-KR 21 35097425 35097425 single base substitution A T downstream_gene_variant LUSC-KR 21 35097425 35097425 single base substitution A T intron_variant LUSC-KR 21 35098978 35098978 single base substitution C T downstream_gene_variant LUSC-KR 21 35098978 35098978 single base substitution C T intron_variant LUSC-KR 21 35102085 35102085 single base substitution G A intron_variant LUSC-KR 21 35110918 35110918 single base substitution G C downstream_gene_variant LUSC-KR 21 35110918 35110918 single base substitution G C intron_variant LUSC-KR 21 35111073 35111073 single base substitution G T downstream_gene_variant LUSC-KR 21 35111073 35111073 single base substitution G T intron_variant LUSC-KR 21 35111239 35111239 single base substitution A G downstream_gene_variant LUSC-KR 21 35111239 35111239 single base substitution A G intron_variant LUSC-KR 21 35113472 35113472 single base substitution A T intron_variant LUSC-KR 21 35115705 35115705 single base substitution A T intron_variant LUSC-KR 21 35116101 35116101 single base substitution G C intron_variant LUSC-KR 21 35122713 35122713 single base substitution G A intron_variant LUSC-KR 21 35122713 35122713 single base substitution G A upstream_gene_variant LUSC-KR 21 35124278 35124278 single base substitution A T intron_variant LUSC-KR 21 35124278 35124278 single base substitution A T upstream_gene_variant LUSC-KR 21 35126205 35126205 single base substitution A G intron_variant LUSC-KR 21 35126205 35126205 single base substitution A G upstream_gene_variant LUSC-KR 21 35129212 35129212 single base substitution C T exon_variant LUSC-KR 21 35129212 35129212 single base substitution C T intron_variant LUSC-KR 21 35129305 35129305 single base substitution A T exon_variant LUSC-KR 21 35129305 35129305 single base substitution A T intron_variant LUSC-KR 21 35136230 35136230 single base substitution C T intron_variant LUSC-KR 21 35136739 35136739 single base substitution A G intron_variant LUSC-KR 21 35139692 35139692 single base substitution A G intron_variant LUSC-KR 21 35141596 35141596 single base substitution G T intron_variant LUSC-KR 21 35144308 35144308 single base substitution G C intron_variant LUSC-KR 21 35144308 35144308 single base substitution G C upstream_gene_variant LUSC-KR 21 35144485 35144485 single base substitution G T exon_variant LUSC-KR 21 35144485 35144485 single base substitution G T missense_variant R328L 983G>T LUSC-KR 21 35144485 35144485 single base substitution G T missense_variant R351L 1052G>T LUSC-KR 21 35144485 35144485 single base substitution G T missense_variant R388L 1163G>T LUSC-KR 21 35144485 35144485 single base substitution G T upstream_gene_variant LUSC-KR 21 35144536 35144536 single base substitution G C exon_variant LUSC-KR 21 35144536 35144536 single base substitution G C missense_variant R345T 1034G>C LUSC-KR 21 35144536 35144536 single base substitution G C missense_variant R368T 1103G>C LUSC-KR 21 35144536 35144536 single base substitution G C missense_variant R405T 1214G>C LUSC-KR 21 35144536 35144536 single base substitution G C upstream_gene_variant LUSC-KR 21 35144640 35144640 single base substitution G C downstream_gene_variant LUSC-KR 21 35144640 35144640 single base substitution G C intron_variant LUSC-KR 21 35144640 35144640 single base substitution G C upstream_gene_variant LUSC-KR 21 35145327 35145327 single base substitution G T downstream_gene_variant LUSC-KR 21 35145327 35145327 single base substitution G T intron_variant LUSC-KR 21 35145327 35145327 single base substitution G T upstream_gene_variant LUSC-KR 21 35145791 35145791 single base substitution G C downstream_gene_variant LUSC-KR 21 35145791 35145791 single base substitution G C intron_variant LUSC-KR 21 35145791 35145791 single base substitution G C upstream_gene_variant LUSC-KR 21 35145812 35145812 single base substitution G T downstream_gene_variant LUSC-KR 21 35145812 35145812 single base substitution G T intron_variant LUSC-KR 21 35145812 35145812 single base substitution G T upstream_gene_variant LUSC-KR 21 35149161 35149161 single base substitution G T downstream_gene_variant LUSC-KR 21 35149161 35149161 single base substitution G T intron_variant LUSC-KR 21 35153990 35153990 single base substitution C G intron_variant LUSC-KR 21 35156206 35156206 single base substitution A T intron_variant LUSC-KR 21 35159379 35159379 single base substitution A T intron_variant LUSC-KR 21 35160925 35160925 single base substitution C T intron_variant LUSC-KR 21 35173012 35173012 single base substitution A T intron_variant LUSC-KR 21 35181207 35181207 single base substitution A T intron_variant LUSC-KR 21 35181207 35181207 single base substitution A T upstream_gene_variant LUSC-KR 21 35183531 35183531 single base substitution G T intron_variant LUSC-KR 21 35183531 35183531 single base substitution G T splice_region_variant LUSC-KR 21 35199768 35199768 single base substitution A T intron_variant LUSC-KR 21 35199768 35199768 single base substitution A T upstream_gene_variant LUSC-KR 21 35201067 35201067 single base substitution G A intron_variant LUSC-KR 21 35201067 35201067 single base substitution G A upstream_gene_variant LUSC-KR 21 35206480 35206480 single base substitution A G downstream_gene_variant LUSC-KR 21 35206480 35206480 single base substitution A G intron_variant LUSC-KR 21 35210027 35210027 single base substitution A G 3_prime_UTR_variant LUSC-KR 21 35210027 35210027 single base substitution A G downstream_gene_variant LUSC-KR 21 35210027 35210027 single base substitution A G intron_variant LUSC-KR 21 35219813 35219813 single base substitution C G intron_variant LUSC-KR 21 35219814 35219814 single base substitution G T intron_variant LUSC-KR 21 35220443 35220443 single base substitution G C intron_variant LUSC-KR 21 35226375 35226375 single base substitution A G intron_variant LUSC-KR 21 35226375 35226375 single base substitution A G upstream_gene_variant LUSC-KR 21 35229711 35229711 single base substitution G T downstream_gene_variant LUSC-KR 21 35229711 35229711 single base substitution G T intron_variant LUSC-KR 21 35229711 35229711 single base substitution G T upstream_gene_variant LUSC-KR 21 35230359 35230359 single base substitution G A downstream_gene_variant LUSC-KR 21 35230359 35230359 single base substitution G A intron_variant LUSC-KR 21 35230359 35230359 single base substitution G A upstream_gene_variant LUSC-KR 21 35230921 35230921 single base substitution G C downstream_gene_variant LUSC-KR 21 35230921 35230921 single base substitution G C intron_variant LUSC-KR 21 35230921 35230921 single base substitution G C upstream_gene_variant LUSC-KR 21 35233272 35233272 single base substitution C G downstream_gene_variant LUSC-KR 21 35233272 35233272 single base substitution C G intron_variant LUSC-KR 21 35234364 35234364 single base substitution G T intron_variant LUSC-KR 21 35239405 35239405 single base substitution A T intron_variant LUSC-KR 21 35240650 35240650 single base substitution G T intron_variant LUSC-KR 21 35243428 35243428 single base substitution C G intron_variant LUSC-KR 21 35243428 35243428 single base substitution C G upstream_gene_variant LUSC-KR 21 35243864 35243864 single base substitution G T intron_variant LUSC-KR 21 35243864 35243864 single base substitution G T upstream_gene_variant LUSC-KR 21 35245260 35245260 single base substitution T G intron_variant LUSC-KR 21 35245260 35245260 single base substitution T G upstream_gene_variant LUSC-KR 21 35246482 35246482 single base substitution A G intron_variant LUSC-KR 21 35246482 35246482 single base substitution A G upstream_gene_variant LUSC-KR 21 35248422 35248422 single base substitution T C intron_variant LUSC-KR 21 35250982 35250982 single base substitution C G intron_variant LUSC-KR 21 35254340 35254340 single base substitution A G intron_variant LUSC-KR 21 35254555 35254555 single base substitution G T 3_prime_UTR_variant LUSC-KR 21 35254555 35254555 single base substitution G T intron_variant LUSC-KR 21 35254555 35254555 single base substitution G T synonymous_variant V129V 387G>T LUSC-KR 21 35254555 35254555 single base substitution G T synonymous_variant V1389V 4167G>T LUSC-KR 21 35254555 35254555 single base substitution G T synonymous_variant V1445V 4335G>T LUSC-KR 21 35254555 35254555 single base substitution G T synonymous_variant V1450V 4350G>T LUSC-KR 21 35260481 35260481 single base substitution T C 3_prime_UTR_variant LUSC-KR 21 35260481 35260481 single base substitution T C downstream_gene_variant LUSC-KR 21 35260481 35260481 single base substitution T C synonymous_variant R1620R 4860T>C LUSC-KR 21 35260481 35260481 single base substitution T C synonymous_variant R1676R 5028T>C LUSC-KR 21 35260481 35260481 single base substitution T C synonymous_variant R1681R 5043T>C LUSC-KR 21 35273797 35273797 single base substitution C T downstream_gene_variant LUSC-KR 21 35276209 35276209 single base substitution A G downstream_gene_variant LUSC-KR 21 35276532 35276532 single base substitution C A downstream_gene_variant LUSC-US 21 35127600 35127600 single base substitution A T splice_acceptor_variant LUSC-US 21 35140086 35140086 single base substitution A G exon_variant LUSC-US 21 35140086 35140086 single base substitution A G synonymous_variant E272E 816A>G LUSC-US 21 35140086 35140086 single base substitution A G synonymous_variant E295E 885A>G LUSC-US 21 35140086 35140086 single base substitution A G synonymous_variant E332E 996A>G LUSC-US 21 35144463 35144463 single base substitution G T exon_variant LUSC-US 21 35144463 35144463 single base substitution G T stop_gained E321* 961G>T LUSC-US 21 35144463 35144463 single base substitution G T stop_gained E344* 1030G>T LUSC-US 21 35144463 35144463 single base substitution G T stop_gained E381* 1141G>T LUSC-US 21 35144463 35144463 single base substitution G T upstream_gene_variant LUSC-US 21 35172220 35172220 single base substitution G C exon_variant LUSC-US 21 35172220 35172220 single base substitution G C missense_variant G727A 2180G>C LUSC-US 21 35172220 35172220 single base substitution G C missense_variant G764A 2291G>C LUSC-US 21 35172220 35172220 single base substitution G C upstream_gene_variant LUSC-US 21 35183447 35183447 single base substitution C T 3_prime_UTR_variant LUSC-US 21 35183447 35183447 single base substitution C T missense_variant R64C 190C>T LUSC-US 21 35183447 35183447 single base substitution C T missense_variant R788C 2362C>T LUSC-US 21 35183447 35183447 single base substitution C T missense_variant R825C 2473C>T LUSC-US 21 35183447 35183447 single base substitution C T missense_variant R830C 2488C>T LUSC-US 21 35183447 35183447 single base substitution C T upstream_gene_variant LUSC-US 21 35208892 35208892 single base substitution C T 3_prime_UTR_variant LUSC-US 21 35208892 35208892 single base substitution C T downstream_gene_variant LUSC-US 21 35208892 35208892 single base substitution C T exon_variant LUSC-US 21 35208892 35208892 single base substitution C T intron_variant LUSC-US 21 35208892 35208892 single base substitution C T missense_variant S1130F 3389C>T LUSC-US 21 35208892 35208892 single base substitution C T missense_variant S1135F 3404C>T LUSC-US 21 35208892 35208892 single base substitution C T missense_variant S1164F 3491C>T LUSC-US 21 35208892 35208892 single base substitution C T missense_variant S1201F 3602C>T LUSC-US 21 35208892 35208892 single base substitution C T missense_variant S1206F 3617C>T MALY-DE 21 35013560 35013560 single base substitution A G upstream_gene_variant MALY-DE 21 35014212 35014212 single base substitution G T upstream_gene_variant MALY-DE 21 35017087 35017087 single base substitution A C intron_variant MALY-DE 21 35019825 35019825 single base substitution G A intron_variant MALY-DE 21 35022190 35022190 single base substitution C T intron_variant MALY-DE 21 35029651 35029651 single base substitution T G intron_variant MALY-DE 21 35033599 35033599 single base substitution T A intron_variant MALY-DE 21 35035694 35035694 single base substitution C A intron_variant MALY-DE 21 35040077 35040077 single base substitution C T intron_variant MALY-DE 21 35043679 35043679 single base substitution G A intron_variant MALY-DE 21 35054175 35054175 single base substitution G A intron_variant MALY-DE 21 35054767 35054767 single base substitution G A intron_variant MALY-DE 21 35060123 35060123 single base substitution T G intron_variant MALY-DE 21 35068486 35068486 insertion of <=200bp - T intron_variant MALY-DE 21 35068815 35068815 single base substitution T G intron_variant MALY-DE 21 35072640 35072640 single base substitution T C intron_variant MALY-DE 21 35082287 35082287 single base substitution C A intron_variant MALY-DE 21 35083620 35083620 deletion of <=200bp T - intron_variant MALY-DE 21 35085317 35085317 single base substitution G A intron_variant MALY-DE 21 35085473 35085473 single base substitution G A intron_variant MALY-DE 21 35088773 35088773 single base substitution C G 5_prime_UTR_variant MALY-DE 21 35088773 35088773 single base substitution C G intron_variant MALY-DE 21 35088773 35088773 single base substitution C G upstream_gene_variant MALY-DE 21 35094783 35094783 single base substitution T G downstream_gene_variant MALY-DE 21 35094783 35094783 single base substitution T G intron_variant MALY-DE 21 35095690 35095690 single base substitution C T downstream_gene_variant MALY-DE 21 35095690 35095690 single base substitution C T intron_variant MALY-DE 21 35100560 35100560 single base substitution G A intron_variant MALY-DE 21 35102211 35102211 single base substitution G A intron_variant MALY-DE 21 35111274 35111274 single base substitution A T downstream_gene_variant MALY-DE 21 35111274 35111274 single base substitution A T intron_variant MALY-DE 21 35111297 35111297 single base substitution G T downstream_gene_variant MALY-DE 21 35111297 35111297 single base substitution G T intron_variant MALY-DE 21 35118495 35118495 single base substitution A G intron_variant MALY-DE 21 35121992 35121992 single base substitution C A intron_variant MALY-DE 21 35121992 35121992 single base substitution C A upstream_gene_variant MALY-DE 21 35131786 35131786 single base substitution C A intron_variant MALY-DE 21 35133054 35133054 single base substitution A T intron_variant MALY-DE 21 35146107 35146107 single base substitution C T downstream_gene_variant MALY-DE 21 35146107 35146107 single base substitution C T intron_variant MALY-DE 21 35146107 35146107 single base substitution C T upstream_gene_variant MALY-DE 21 35161349 35161349 single base substitution G A intron_variant MALY-DE 21 35162812 35162812 single base substitution C A intron_variant MALY-DE 21 35164137 35164137 insertion of <=200bp - T intron_variant MALY-DE 21 35168991 35168991 single base substitution G T intron_variant MALY-DE 21 35168991 35168991 single base substitution G T upstream_gene_variant MALY-DE 21 35175084 35175084 deletion of <=200bp T - intron_variant MALY-DE 21 35175783 35175783 single base substitution T C intron_variant MALY-DE 21 35183100 35183100 deletion of <=200bp T - intron_variant MALY-DE 21 35183100 35183100 deletion of <=200bp T - upstream_gene_variant MALY-DE 21 35185288 35185288 deletion of <=200bp T - intron_variant MALY-DE 21 35191051 35191051 single base substitution G C downstream_gene_variant MALY-DE 21 35191051 35191051 single base substitution G C intron_variant MALY-DE 21 35194676 35194676 single base substitution G A downstream_gene_variant MALY-DE 21 35194676 35194676 single base substitution G A intron_variant MALY-DE 21 35196722 35196722 single base substitution A T intron_variant MALY-DE 21 35196722 35196722 single base substitution A T upstream_gene_variant MALY-DE 21 35197506 35197506 deletion of <=200bp T - intron_variant MALY-DE 21 35197506 35197506 deletion of <=200bp T - upstream_gene_variant MALY-DE 21 35205626 35205626 single base substitution G A downstream_gene_variant MALY-DE 21 35205626 35205626 single base substitution G A intron_variant MALY-DE 21 35205899 35205899 single base substitution C T downstream_gene_variant MALY-DE 21 35205899 35205899 single base substitution C T intron_variant MALY-DE 21 35206355 35206355 single base substitution G T downstream_gene_variant MALY-DE 21 35206355 35206355 single base substitution G T intron_variant MALY-DE 21 35210608 35210608 single base substitution G A 3_prime_UTR_variant MALY-DE 21 35210608 35210608 single base substitution G A downstream_gene_variant MALY-DE 21 35210608 35210608 single base substitution G A intron_variant MALY-DE 21 35214800 35214801 deletion of <=200bp GT - downstream_gene_variant MALY-DE 21 35214800 35214801 deletion of <=200bp GT - intron_variant MALY-DE 21 35217374 35217374 single base substitution C T intron_variant MALY-DE 21 35218061 35218061 single base substitution G A intron_variant MALY-DE 21 35221929 35221929 single base substitution A C intron_variant MALY-DE 21 35228621 35228621 single base substitution T C intron_variant MALY-DE 21 35228621 35228621 single base substitution T C upstream_gene_variant MALY-DE 21 35230434 35230434 single base substitution C T downstream_gene_variant MALY-DE 21 35230434 35230434 single base substitution C T intron_variant MALY-DE 21 35230434 35230434 single base substitution C T upstream_gene_variant MALY-DE 21 35231901 35231901 single base substitution G A downstream_gene_variant MALY-DE 21 35231901 35231901 single base substitution G A intron_variant MALY-DE 21 35242410 35242410 single base substitution C T intron_variant MALY-DE 21 35250130 35250131 deletion of <=200bp TG - intron_variant MALY-DE 21 35264919 35264919 single base substitution T G 3_prime_UTR_variant MALY-DE 21 35264919 35264919 single base substitution T G downstream_gene_variant MALY-DE 21 35264920 35264920 single base substitution G C 3_prime_UTR_variant MALY-DE 21 35264920 35264920 single base substitution G C downstream_gene_variant MALY-DE 21 35264921 35264921 single base substitution G C 3_prime_UTR_variant MALY-DE 21 35264921 35264921 single base substitution G C downstream_gene_variant MELA-AU 21 35009719 35009719 single base substitution C T upstream_gene_variant MELA-AU 21 35010004 35010004 single base substitution C T upstream_gene_variant MELA-AU 21 35010504 35010504 single base substitution G A upstream_gene_variant MELA-AU 21 35011372 35011372 single base substitution G A upstream_gene_variant MELA-AU 21 35011433 35011433 single base substitution G A upstream_gene_variant MELA-AU 21 35011629 35011629 single base substitution G A upstream_gene_variant MELA-AU 21 35014104 35014104 single base substitution G A upstream_gene_variant MELA-AU 21 35014124 35014124 single base substitution C T upstream_gene_variant MELA-AU 21 35014255 35014255 single base substitution C T upstream_gene_variant MELA-AU 21 35014288 35014288 single base substitution C T upstream_gene_variant MELA-AU 21 35014289 35014289 single base substitution C T upstream_gene_variant MELA-AU 21 35014292 35014292 single base substitution C T upstream_gene_variant MELA-AU 21 35014525 35014526 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 21 35014538 35014538 single base substitution C T upstream_gene_variant MELA-AU 21 35014538 35014539 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 21 35014645 35014645 single base substitution G A upstream_gene_variant MELA-AU 21 35014699 35014699 single base substitution C T upstream_gene_variant MELA-AU 21 35014702 35014702 single base substitution A G upstream_gene_variant MELA-AU 21 35014705 35014705 single base substitution C T upstream_gene_variant MELA-AU 21 35014710 35014710 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 21 35014710 35014710 single base substitution A C upstream_gene_variant MELA-AU 21 35014796 35014796 single base substitution G A 5_prime_UTR_variant MELA-AU 21 35014796 35014796 single base substitution G A exon_variant MELA-AU 21 35014796 35014796 single base substitution G A upstream_gene_variant MELA-AU 21 35014831 35014831 single base substitution G A 5_prime_UTR_variant MELA-AU 21 35014831 35014831 single base substitution G A exon_variant MELA-AU 21 35014831 35014831 single base substitution G A upstream_gene_variant MELA-AU 21 35015296 35015296 single base substitution G A intron_variant MELA-AU 21 35015355 35015355 single base substitution C T intron_variant MELA-AU 21 35015383 35015383 single base substitution C T intron_variant MELA-AU 21 35016646 35016646 single base substitution G A intron_variant MELA-AU 21 35017057 35017057 single base substitution C T intron_variant MELA-AU 21 35017132 35017132 single base substitution C T intron_variant MELA-AU 21 35017816 35017816 single base substitution G A intron_variant MELA-AU 21 35018231 35018231 single base substitution T A intron_variant MELA-AU 21 35018251 35018251 single base substitution C T intron_variant MELA-AU 21 35019063 35019063 single base substitution C T intron_variant MELA-AU 21 35020160 35020160 single base substitution C T intron_variant MELA-AU 21 35020331 35020337 deletion of <=200bp AAGATTG - intron_variant MELA-AU 21 35020401 35020401 single base substitution C T intron_variant MELA-AU 21 35020910 35020910 single base substitution G A intron_variant MELA-AU 21 35021447 35021448 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35021802 35021802 single base substitution C T intron_variant MELA-AU 21 35022520 35022520 single base substitution C T intron_variant MELA-AU 21 35023970 35023970 deletion of <=200bp T - intron_variant MELA-AU 21 35024672 35024672 single base substitution C G intron_variant MELA-AU 21 35024924 35024924 single base substitution C T intron_variant MELA-AU 21 35024988 35024988 single base substitution A G intron_variant MELA-AU 21 35025041 35025041 single base substitution C T intron_variant MELA-AU 21 35025275 35025275 single base substitution C T intron_variant MELA-AU 21 35025750 35025750 single base substitution T G intron_variant MELA-AU 21 35025887 35025887 single base substitution G T intron_variant MELA-AU 21 35026137 35026137 single base substitution C T intron_variant MELA-AU 21 35027334 35027334 single base substitution C T intron_variant MELA-AU 21 35027606 35027606 single base substitution C T intron_variant MELA-AU 21 35028514 35028514 single base substitution C T intron_variant MELA-AU 21 35028715 35028715 single base substitution C T intron_variant MELA-AU 21 35028864 35028864 single base substitution G A intron_variant MELA-AU 21 35030020 35030020 single base substitution C T intron_variant MELA-AU 21 35030144 35030144 single base substitution C T intron_variant MELA-AU 21 35030578 35030578 single base substitution G A intron_variant MELA-AU 21 35030642 35030642 single base substitution T C intron_variant MELA-AU 21 35031190 35031190 single base substitution C T intron_variant MELA-AU 21 35031267 35031267 single base substitution C T intron_variant MELA-AU 21 35032533 35032533 single base substitution C T intron_variant MELA-AU 21 35033297 35033297 single base substitution C T intron_variant MELA-AU 21 35033982 35033982 single base substitution G A intron_variant MELA-AU 21 35034817 35034817 single base substitution C T intron_variant MELA-AU 21 35034931 35034931 single base substitution G A intron_variant MELA-AU 21 35035122 35035122 single base substitution G A intron_variant MELA-AU 21 35035532 35035532 single base substitution C T intron_variant MELA-AU 21 35036479 35036479 single base substitution A T intron_variant MELA-AU 21 35036700 35036700 single base substitution G A intron_variant MELA-AU 21 35036825 35036825 single base substitution C T intron_variant MELA-AU 21 35036939 35036939 single base substitution C T intron_variant MELA-AU 21 35036959 35036959 single base substitution C T intron_variant MELA-AU 21 35037319 35037319 single base substitution C T intron_variant MELA-AU 21 35037990 35037990 single base substitution C T intron_variant MELA-AU 21 35038325 35038326 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35038493 35038493 single base substitution T C intron_variant MELA-AU 21 35038547 35038547 single base substitution C T intron_variant MELA-AU 21 35038550 35038550 single base substitution T C intron_variant MELA-AU 21 35039058 35039058 single base substitution T G intron_variant MELA-AU 21 35039606 35039606 single base substitution T G intron_variant MELA-AU 21 35040147 35040147 single base substitution C T intron_variant MELA-AU 21 35040402 35040402 single base substitution C T intron_variant MELA-AU 21 35040714 35040714 single base substitution C T intron_variant MELA-AU 21 35041108 35041108 single base substitution T G intron_variant MELA-AU 21 35041547 35041548 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35042025 35042025 single base substitution G A intron_variant MELA-AU 21 35042372 35042372 single base substitution G C intron_variant MELA-AU 21 35042416 35042417 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35042497 35042497 single base substitution C T intron_variant MELA-AU 21 35042799 35042799 single base substitution T A intron_variant MELA-AU 21 35042800 35042800 single base substitution C T intron_variant MELA-AU 21 35043579 35043579 single base substitution T C intron_variant MELA-AU 21 35043716 35043716 single base substitution C T intron_variant MELA-AU 21 35044975 35044975 single base substitution C T intron_variant MELA-AU 21 35046979 35046979 single base substitution T C intron_variant MELA-AU 21 35047117 35047117 single base substitution C T intron_variant MELA-AU 21 35048129 35048129 single base substitution C T intron_variant MELA-AU 21 35048274 35048274 single base substitution T C intron_variant MELA-AU 21 35048482 35048482 single base substitution T C intron_variant MELA-AU 21 35048559 35048559 single base substitution G A intron_variant MELA-AU 21 35048677 35048677 single base substitution T C intron_variant MELA-AU 21 35048847 35048847 single base substitution C T intron_variant MELA-AU 21 35049200 35049200 single base substitution G A intron_variant MELA-AU 21 35049952 35049953 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 35050305 35050305 single base substitution C T intron_variant MELA-AU 21 35050355 35050355 single base substitution C T intron_variant MELA-AU 21 35050564 35050564 single base substitution C T intron_variant MELA-AU 21 35051848 35051848 single base substitution T C intron_variant MELA-AU 21 35051925 35051925 single base substitution C T intron_variant MELA-AU 21 35052306 35052306 single base substitution C T intron_variant MELA-AU 21 35052665 35052665 single base substitution C T intron_variant MELA-AU 21 35053172 35053172 single base substitution G A intron_variant MELA-AU 21 35053215 35053215 single base substitution T A intron_variant MELA-AU 21 35053534 35053534 single base substitution C T intron_variant MELA-AU 21 35054173 35054173 single base substitution C T intron_variant MELA-AU 21 35054782 35054782 single base substitution A C intron_variant MELA-AU 21 35055290 35055290 single base substitution C T intron_variant MELA-AU 21 35055321 35055321 single base substitution C T intron_variant MELA-AU 21 35055462 35055462 single base substitution G A intron_variant MELA-AU 21 35056881 35056881 single base substitution C T intron_variant MELA-AU 21 35056956 35056956 single base substitution G A intron_variant MELA-AU 21 35057414 35057414 single base substitution T C intron_variant MELA-AU 21 35057600 35057601 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35057947 35057947 single base substitution T C intron_variant MELA-AU 21 35058560 35058560 single base substitution C T intron_variant MELA-AU 21 35060750 35060750 single base substitution C T intron_variant MELA-AU 21 35061218 35061218 single base substitution C T intron_variant MELA-AU 21 35061417 35061417 single base substitution C T intron_variant MELA-AU 21 35061422 35061422 single base substitution C T intron_variant MELA-AU 21 35062029 35062029 single base substitution C T intron_variant MELA-AU 21 35062876 35062876 single base substitution G A intron_variant MELA-AU 21 35064798 35064798 single base substitution C T intron_variant MELA-AU 21 35065276 35065276 single base substitution A G intron_variant MELA-AU 21 35065313 35065313 single base substitution G A intron_variant MELA-AU 21 35065718 35065718 single base substitution A G intron_variant MELA-AU 21 35066053 35066053 single base substitution G A intron_variant MELA-AU 21 35067994 35067994 single base substitution A T intron_variant MELA-AU 21 35068458 35068458 single base substitution T G intron_variant MELA-AU 21 35068608 35068608 single base substitution C T intron_variant MELA-AU 21 35069581 35069581 single base substitution T A intron_variant MELA-AU 21 35070017 35070017 single base substitution G A intron_variant MELA-AU 21 35071139 35071139 single base substitution C T intron_variant MELA-AU 21 35071492 35071492 single base substitution C T intron_variant MELA-AU 21 35072149 35072149 single base substitution C T intron_variant MELA-AU 21 35072479 35072479 single base substitution C T intron_variant MELA-AU 21 35072659 35072659 single base substitution G A intron_variant MELA-AU 21 35072689 35072689 single base substitution C T intron_variant MELA-AU 21 35073145 35073145 single base substitution C T intron_variant MELA-AU 21 35073148 35073148 single base substitution C T intron_variant MELA-AU 21 35073564 35073564 single base substitution C A intron_variant MELA-AU 21 35074257 35074257 single base substitution C T intron_variant MELA-AU 21 35074564 35074565 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 35074666 35074666 single base substitution C T intron_variant MELA-AU 21 35075004 35075004 single base substitution C T intron_variant MELA-AU 21 35075852 35075852 single base substitution C T intron_variant MELA-AU 21 35075997 35075997 single base substitution C T intron_variant MELA-AU 21 35076001 35076001 single base substitution G A intron_variant MELA-AU 21 35076052 35076052 single base substitution C T intron_variant MELA-AU 21 35076053 35076053 single base substitution C T intron_variant MELA-AU 21 35076200 35076201 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35076745 35076745 single base substitution C T intron_variant MELA-AU 21 35076777 35076777 single base substitution G A intron_variant MELA-AU 21 35076876 35076876 single base substitution T C intron_variant MELA-AU 21 35076941 35076941 single base substitution C T intron_variant MELA-AU 21 35078523 35078523 single base substitution C T intron_variant MELA-AU 21 35079048 35079048 single base substitution T C intron_variant MELA-AU 21 35079151 35079151 single base substitution C T intron_variant MELA-AU 21 35079818 35079818 single base substitution C T intron_variant MELA-AU 21 35080235 35080235 single base substitution G A intron_variant MELA-AU 21 35080356 35080356 single base substitution C T intron_variant MELA-AU 21 35081066 35081066 single base substitution C T intron_variant MELA-AU 21 35081176 35081176 single base substitution C T intron_variant MELA-AU 21 35081675 35081675 single base substitution C T intron_variant MELA-AU 21 35081769 35081769 single base substitution C T intron_variant MELA-AU 21 35081955 35081955 single base substitution T C intron_variant MELA-AU 21 35082629 35082629 single base substitution C T intron_variant MELA-AU 21 35083146 35083146 single base substitution C T intron_variant MELA-AU 21 35084121 35084121 single base substitution C T intron_variant MELA-AU 21 35084934 35084935 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 35086247 35086247 single base substitution C T intron_variant MELA-AU 21 35086247 35086247 single base substitution C T upstream_gene_variant MELA-AU 21 35086620 35086620 single base substitution C T intron_variant MELA-AU 21 35086620 35086620 single base substitution C T upstream_gene_variant MELA-AU 21 35088199 35088199 single base substitution G A intron_variant MELA-AU 21 35088199 35088199 single base substitution G A upstream_gene_variant MELA-AU 21 35088343 35088343 single base substitution G A intron_variant MELA-AU 21 35088343 35088343 single base substitution G A upstream_gene_variant MELA-AU 21 35088467 35088467 single base substitution G A intron_variant MELA-AU 21 35088467 35088467 single base substitution G A upstream_gene_variant MELA-AU 21 35088620 35088620 single base substitution C T intron_variant MELA-AU 21 35088620 35088620 single base substitution C T upstream_gene_variant MELA-AU 21 35089234 35089234 single base substitution C T intron_variant MELA-AU 21 35089234 35089234 single base substitution C T upstream_gene_variant MELA-AU 21 35089595 35089595 single base substitution G A intron_variant MELA-AU 21 35089595 35089595 single base substitution G A upstream_gene_variant MELA-AU 21 35089907 35089907 single base substitution C T intron_variant MELA-AU 21 35089907 35089907 single base substitution C T upstream_gene_variant MELA-AU 21 35090708 35090708 single base substitution T A intron_variant MELA-AU 21 35090708 35090708 single base substitution T A upstream_gene_variant MELA-AU 21 35091351 35091351 single base substitution C T intron_variant MELA-AU 21 35092770 35092770 single base substitution C T intron_variant MELA-AU 21 35092947 35092947 single base substitution C T intron_variant MELA-AU 21 35093242 35093242 single base substitution G A intron_variant MELA-AU 21 35093652 35093652 single base substitution G A intron_variant MELA-AU 21 35094887 35094887 single base substitution T G downstream_gene_variant MELA-AU 21 35094887 35094887 single base substitution T G splice_region_variant MELA-AU 21 35095685 35095685 single base substitution C T downstream_gene_variant MELA-AU 21 35095685 35095685 single base substitution C T intron_variant MELA-AU 21 35096400 35096400 single base substitution G T downstream_gene_variant MELA-AU 21 35096400 35096400 single base substitution G T intron_variant MELA-AU 21 35096402 35096402 single base substitution T G downstream_gene_variant MELA-AU 21 35096402 35096402 single base substitution T G intron_variant MELA-AU 21 35096905 35096905 single base substitution C T downstream_gene_variant MELA-AU 21 35096905 35096905 single base substitution C T intron_variant MELA-AU 21 35097347 35097348 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 35097347 35097348 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 35098317 35098317 single base substitution G C downstream_gene_variant MELA-AU 21 35098317 35098317 single base substitution G C intron_variant MELA-AU 21 35098467 35098467 single base substitution C T downstream_gene_variant MELA-AU 21 35098467 35098467 single base substitution C T intron_variant MELA-AU 21 35098660 35098661 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 35098660 35098661 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35099275 35099275 single base substitution C T downstream_gene_variant MELA-AU 21 35099275 35099275 single base substitution C T intron_variant MELA-AU 21 35099894 35099894 single base substitution C T intron_variant MELA-AU 21 35100270 35100270 single base substitution G A intron_variant MELA-AU 21 35100313 35100313 single base substitution C T intron_variant MELA-AU 21 35100363 35100364 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 35100387 35100387 single base substitution A C intron_variant MELA-AU 21 35102078 35102078 single base substitution T A intron_variant MELA-AU 21 35102305 35102305 single base substitution T A intron_variant MELA-AU 21 35102434 35102434 single base substitution T C intron_variant MELA-AU 21 35102434 35102434 single base substitution T C upstream_gene_variant MELA-AU 21 35102530 35102530 single base substitution C T intron_variant MELA-AU 21 35102530 35102530 single base substitution C T upstream_gene_variant MELA-AU 21 35102932 35102932 single base substitution C T intron_variant MELA-AU 21 35102932 35102932 single base substitution C T upstream_gene_variant MELA-AU 21 35103087 35103087 single base substitution C T intron_variant MELA-AU 21 35103087 35103087 single base substitution C T upstream_gene_variant MELA-AU 21 35103486 35103486 single base substitution A G intron_variant MELA-AU 21 35103486 35103486 single base substitution A G upstream_gene_variant MELA-AU 21 35104311 35104311 single base substitution C T intron_variant MELA-AU 21 35104311 35104311 single base substitution C T upstream_gene_variant MELA-AU 21 35104723 35104723 single base substitution C T intron_variant MELA-AU 21 35104723 35104723 single base substitution C T upstream_gene_variant MELA-AU 21 35105036 35105036 single base substitution G A intron_variant MELA-AU 21 35105036 35105036 single base substitution G A upstream_gene_variant MELA-AU 21 35105322 35105322 single base substitution C T intron_variant MELA-AU 21 35105322 35105322 single base substitution C T upstream_gene_variant MELA-AU 21 35105682 35105682 single base substitution C T intron_variant MELA-AU 21 35105682 35105682 single base substitution C T upstream_gene_variant MELA-AU 21 35106264 35106264 single base substitution C T intron_variant MELA-AU 21 35106264 35106264 single base substitution C T upstream_gene_variant MELA-AU 21 35106504 35106504 single base substitution G A intron_variant MELA-AU 21 35106504 35106504 single base substitution G A upstream_gene_variant MELA-AU 21 35107656 35107656 single base substitution T G 3_prime_UTR_variant MELA-AU 21 35107656 35107656 single base substitution T G downstream_gene_variant MELA-AU 21 35107656 35107656 single base substitution T G intron_variant MELA-AU 21 35107960 35107960 single base substitution C T downstream_gene_variant MELA-AU 21 35107960 35107960 single base substitution C T intron_variant MELA-AU 21 35108105 35108105 single base substitution C T downstream_gene_variant MELA-AU 21 35108105 35108105 single base substitution C T intron_variant MELA-AU 21 35108575 35108575 single base substitution C T downstream_gene_variant MELA-AU 21 35108575 35108575 single base substitution C T intron_variant MELA-AU 21 35108744 35108744 single base substitution T G downstream_gene_variant MELA-AU 21 35108744 35108744 single base substitution T G intron_variant MELA-AU 21 35109625 35109626 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 21 35109625 35109626 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 21 35109645 35109645 single base substitution C T downstream_gene_variant MELA-AU 21 35109645 35109645 single base substitution C T intron_variant MELA-AU 21 35109658 35109658 single base substitution C T downstream_gene_variant MELA-AU 21 35109658 35109658 single base substitution C T intron_variant MELA-AU 21 35109742 35109742 single base substitution G A downstream_gene_variant MELA-AU 21 35109742 35109742 single base substitution G A intron_variant MELA-AU 21 35109909 35109909 single base substitution C T downstream_gene_variant MELA-AU 21 35109909 35109909 single base substitution C T intron_variant MELA-AU 21 35110741 35110741 single base substitution C A downstream_gene_variant MELA-AU 21 35110741 35110741 single base substitution C A intron_variant MELA-AU 21 35111304 35111304 single base substitution T A downstream_gene_variant MELA-AU 21 35111304 35111304 single base substitution T A intron_variant MELA-AU 21 35111342 35111342 single base substitution C T downstream_gene_variant MELA-AU 21 35111342 35111342 single base substitution C T intron_variant MELA-AU 21 35111482 35111482 single base substitution C T downstream_gene_variant MELA-AU 21 35111482 35111482 single base substitution C T intron_variant MELA-AU 21 35111547 35111559 deletion of <=200bp TAGAATTTTCTAT - downstream_gene_variant MELA-AU 21 35111547 35111559 deletion of <=200bp TAGAATTTTCTAT - intron_variant MELA-AU 21 35111775 35111775 single base substitution C T downstream_gene_variant MELA-AU 21 35111775 35111775 single base substitution C T intron_variant MELA-AU 21 35112575 35112575 single base substitution C T downstream_gene_variant MELA-AU 21 35112575 35112575 single base substitution C T intron_variant MELA-AU 21 35113129 35113129 single base substitution G A intron_variant MELA-AU 21 35113253 35113253 single base substitution C T intron_variant MELA-AU 21 35113254 35113254 single base substitution C T intron_variant MELA-AU 21 35113602 35113602 single base substitution A G intron_variant MELA-AU 21 35113973 35113973 single base substitution G A intron_variant MELA-AU 21 35114875 35114875 single base substitution T G intron_variant MELA-AU 21 35115346 35115346 single base substitution T C intron_variant MELA-AU 21 35115873 35115873 single base substitution T G intron_variant MELA-AU 21 35116139 35116139 single base substitution G A intron_variant MELA-AU 21 35116312 35116312 single base substitution A G intron_variant MELA-AU 21 35116897 35116897 single base substitution T G intron_variant MELA-AU 21 35117022 35117022 single base substitution A T intron_variant MELA-AU 21 35117304 35117304 single base substitution C T intron_variant MELA-AU 21 35117596 35117596 single base substitution C T intron_variant MELA-AU 21 35117651 35117651 single base substitution G A intron_variant MELA-AU 21 35119005 35119005 single base substitution G A intron_variant MELA-AU 21 35119061 35119062 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35119342 35119343 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35120283 35120283 single base substitution A C intron_variant MELA-AU 21 35120413 35120413 single base substitution C T intron_variant MELA-AU 21 35121188 35121188 single base substitution A G intron_variant MELA-AU 21 35121829 35121829 single base substitution C T intron_variant MELA-AU 21 35121829 35121829 single base substitution C T upstream_gene_variant MELA-AU 21 35122706 35122706 single base substitution A G intron_variant MELA-AU 21 35122706 35122706 single base substitution A G upstream_gene_variant MELA-AU 21 35122784 35122784 single base substitution C T intron_variant MELA-AU 21 35122784 35122784 single base substitution C T upstream_gene_variant MELA-AU 21 35123241 35123241 single base substitution G A intron_variant MELA-AU 21 35123241 35123241 single base substitution G A upstream_gene_variant MELA-AU 21 35123313 35123313 single base substitution C T intron_variant MELA-AU 21 35123313 35123313 single base substitution C T upstream_gene_variant MELA-AU 21 35125350 35125350 single base substitution G A intron_variant MELA-AU 21 35125350 35125350 single base substitution G A upstream_gene_variant MELA-AU 21 35125816 35125816 single base substitution C T intron_variant MELA-AU 21 35125816 35125816 single base substitution C T upstream_gene_variant MELA-AU 21 35126405 35126405 single base substitution C A intron_variant MELA-AU 21 35126405 35126405 single base substitution C A upstream_gene_variant MELA-AU 21 35126541 35126541 single base substitution A T intron_variant MELA-AU 21 35127022 35127023 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35127918 35127918 single base substitution C T intron_variant MELA-AU 21 35128200 35128200 single base substitution C T intron_variant MELA-AU 21 35128362 35128362 single base substitution C T intron_variant MELA-AU 21 35128438 35128438 single base substitution C T intron_variant MELA-AU 21 35128460 35128460 single base substitution C T intron_variant MELA-AU 21 35129684 35129684 single base substitution G A intron_variant MELA-AU 21 35130775 35130775 single base substitution C T intron_variant MELA-AU 21 35131915 35131915 single base substitution T C intron_variant MELA-AU 21 35132150 35132150 single base substitution A G intron_variant MELA-AU 21 35132153 35132153 single base substitution C T intron_variant MELA-AU 21 35132382 35132383 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 35133290 35133290 single base substitution T G intron_variant MELA-AU 21 35133415 35133415 single base substitution C T intron_variant MELA-AU 21 35133614 35133614 single base substitution T C intron_variant MELA-AU 21 35133665 35133665 single base substitution C T intron_variant MELA-AU 21 35133768 35133768 single base substitution C T intron_variant MELA-AU 21 35134956 35134956 single base substitution C T intron_variant MELA-AU 21 35135080 35135080 single base substitution G T intron_variant MELA-AU 21 35135178 35135178 single base substitution G A intron_variant MELA-AU 21 35135521 35135521 single base substitution C T intron_variant MELA-AU 21 35136183 35136183 single base substitution C T intron_variant MELA-AU 21 35136492 35136492 single base substitution C T intron_variant MELA-AU 21 35137138 35137138 single base substitution C T intron_variant MELA-AU 21 35137488 35137488 single base substitution G A intron_variant MELA-AU 21 35137816 35137816 single base substitution C T intron_variant MELA-AU 21 35138406 35138406 single base substitution C T intron_variant MELA-AU 21 35138988 35138988 single base substitution G A intron_variant MELA-AU 21 35139563 35139563 single base substitution G A intron_variant MELA-AU 21 35139744 35139744 single base substitution A T intron_variant MELA-AU 21 35139997 35139997 single base substitution C T intron_variant MELA-AU 21 35141291 35141291 single base substitution G A intron_variant MELA-AU 21 35141359 35141359 single base substitution G A intron_variant MELA-AU 21 35141907 35141908 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35141907 35141908 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 21 35141936 35141936 single base substitution C T intron_variant MELA-AU 21 35141936 35141936 single base substitution C T upstream_gene_variant MELA-AU 21 35142412 35142412 single base substitution G T intron_variant MELA-AU 21 35142412 35142412 single base substitution G T upstream_gene_variant MELA-AU 21 35142655 35142655 single base substitution C T intron_variant MELA-AU 21 35142655 35142655 single base substitution C T upstream_gene_variant MELA-AU 21 35142773 35142773 single base substitution C T intron_variant MELA-AU 21 35142773 35142773 single base substitution C T upstream_gene_variant MELA-AU 21 35142833 35142833 single base substitution G A intron_variant MELA-AU 21 35142833 35142833 single base substitution G A upstream_gene_variant MELA-AU 21 35143539 35143539 single base substitution G A intron_variant MELA-AU 21 35143539 35143539 single base substitution G A upstream_gene_variant MELA-AU 21 35144059 35144059 single base substitution C T intron_variant MELA-AU 21 35144059 35144059 single base substitution C T upstream_gene_variant MELA-AU 21 35144317 35144317 single base substitution C T intron_variant MELA-AU 21 35144317 35144317 single base substitution C T upstream_gene_variant MELA-AU 21 35144707 35144707 single base substitution C T downstream_gene_variant MELA-AU 21 35144707 35144707 single base substitution C T intron_variant MELA-AU 21 35144707 35144707 single base substitution C T upstream_gene_variant MELA-AU 21 35144708 35144708 single base substitution C T downstream_gene_variant MELA-AU 21 35144708 35144708 single base substitution C T intron_variant MELA-AU 21 35144708 35144708 single base substitution C T upstream_gene_variant MELA-AU 21 35144778 35144778 single base substitution C T downstream_gene_variant MELA-AU 21 35144778 35144778 single base substitution C T intron_variant MELA-AU 21 35144778 35144778 single base substitution C T upstream_gene_variant MELA-AU 21 35144825 35144825 single base substitution C T downstream_gene_variant MELA-AU 21 35144825 35144825 single base substitution C T intron_variant MELA-AU 21 35144825 35144825 single base substitution C T upstream_gene_variant MELA-AU 21 35145043 35145043 single base substitution C T downstream_gene_variant MELA-AU 21 35145043 35145043 single base substitution C T intron_variant MELA-AU 21 35145043 35145043 single base substitution C T upstream_gene_variant MELA-AU 21 35145261 35145261 single base substitution C T downstream_gene_variant MELA-AU 21 35145261 35145261 single base substitution C T intron_variant MELA-AU 21 35145261 35145261 single base substitution C T upstream_gene_variant MELA-AU 21 35145510 35145510 single base substitution C T downstream_gene_variant MELA-AU 21 35145510 35145510 single base substitution C T intron_variant MELA-AU 21 35145510 35145510 single base substitution C T upstream_gene_variant MELA-AU 21 35145544 35145544 single base substitution T C downstream_gene_variant MELA-AU 21 35145544 35145544 single base substitution T C intron_variant MELA-AU 21 35145544 35145544 single base substitution T C upstream_gene_variant MELA-AU 21 35145921 35145921 single base substitution C T downstream_gene_variant MELA-AU 21 35145921 35145921 single base substitution C T intron_variant MELA-AU 21 35145921 35145921 single base substitution C T upstream_gene_variant MELA-AU 21 35145988 35145988 single base substitution C T downstream_gene_variant MELA-AU 21 35145988 35145988 single base substitution C T intron_variant MELA-AU 21 35145988 35145988 single base substitution C T upstream_gene_variant MELA-AU 21 35146285 35146285 single base substitution C T downstream_gene_variant MELA-AU 21 35146285 35146285 single base substitution C T intron_variant MELA-AU 21 35146285 35146285 single base substitution C T upstream_gene_variant MELA-AU 21 35146293 35146293 single base substitution C T downstream_gene_variant MELA-AU 21 35146293 35146293 single base substitution C T intron_variant MELA-AU 21 35146293 35146293 single base substitution C T upstream_gene_variant MELA-AU 21 35146295 35146295 single base substitution T C downstream_gene_variant MELA-AU 21 35146295 35146295 single base substitution T C intron_variant MELA-AU 21 35146295 35146295 single base substitution T C upstream_gene_variant MELA-AU 21 35147260 35147260 single base substitution C T downstream_gene_variant MELA-AU 21 35147260 35147260 single base substitution C T intron_variant MELA-AU 21 35147320 35147320 single base substitution C T downstream_gene_variant MELA-AU 21 35147320 35147320 single base substitution C T exon_variant MELA-AU 21 35147320 35147320 single base substitution C T stop_gained R465* 1393C>T MELA-AU 21 35147320 35147320 single base substitution C T stop_gained R502* 1504C>T MELA-AU 21 35149278 35149278 single base substitution G A downstream_gene_variant MELA-AU 21 35149278 35149278 single base substitution G A intron_variant MELA-AU 21 35149963 35149963 single base substitution C T downstream_gene_variant MELA-AU 21 35149963 35149963 single base substitution C T intron_variant MELA-AU 21 35150068 35150068 single base substitution T C downstream_gene_variant MELA-AU 21 35150068 35150068 single base substitution T C intron_variant MELA-AU 21 35150135 35150136 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 35150135 35150136 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35150173 35150173 single base substitution C T downstream_gene_variant MELA-AU 21 35150173 35150173 single base substitution C T intron_variant MELA-AU 21 35150320 35150320 single base substitution C T downstream_gene_variant MELA-AU 21 35150320 35150320 single base substitution C T intron_variant MELA-AU 21 35150343 35150343 single base substitution G A downstream_gene_variant MELA-AU 21 35150343 35150343 single base substitution G A intron_variant MELA-AU 21 35150404 35150404 single base substitution C T downstream_gene_variant MELA-AU 21 35150404 35150404 single base substitution C T intron_variant MELA-AU 21 35150681 35150681 single base substitution T C downstream_gene_variant MELA-AU 21 35150681 35150681 single base substitution T C intron_variant MELA-AU 21 35151400 35151400 single base substitution T C downstream_gene_variant MELA-AU 21 35151400 35151400 single base substitution T C intron_variant MELA-AU 21 35151889 35151889 single base substitution C T downstream_gene_variant MELA-AU 21 35151889 35151889 single base substitution C T intron_variant MELA-AU 21 35152234 35152234 single base substitution C T downstream_gene_variant MELA-AU 21 35152234 35152234 single base substitution C T intron_variant MELA-AU 21 35152839 35152839 single base substitution C T intron_variant MELA-AU 21 35152905 35152905 single base substitution C T intron_variant MELA-AU 21 35153483 35153483 single base substitution G A intron_variant MELA-AU 21 35154793 35154793 single base substitution C T intron_variant MELA-AU 21 35155079 35155079 single base substitution C T intron_variant MELA-AU 21 35155487 35155487 single base substitution C T intron_variant MELA-AU 21 35155970 35155970 single base substitution C T intron_variant MELA-AU 21 35156104 35156104 single base substitution C T intron_variant MELA-AU 21 35156779 35156779 single base substitution C A intron_variant MELA-AU 21 35157388 35157388 single base substitution C T intron_variant MELA-AU 21 35157671 35157671 single base substitution C T intron_variant MELA-AU 21 35157823 35157823 single base substitution T A intron_variant MELA-AU 21 35158022 35158022 single base substitution C T intron_variant MELA-AU 21 35158359 35158360 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35158613 35158613 single base substitution G C intron_variant MELA-AU 21 35158687 35158687 single base substitution G A intron_variant MELA-AU 21 35158701 35158701 single base substitution C T intron_variant MELA-AU 21 35158967 35158967 single base substitution C T intron_variant MELA-AU 21 35159127 35159127 single base substitution C T intron_variant MELA-AU 21 35159889 35159889 single base substitution C T intron_variant MELA-AU 21 35160089 35160089 single base substitution C T intron_variant MELA-AU 21 35160250 35160250 single base substitution C T intron_variant MELA-AU 21 35160487 35160487 single base substitution C T intron_variant MELA-AU 21 35160597 35160597 single base substitution C T intron_variant MELA-AU 21 35161522 35161522 single base substitution C T intron_variant MELA-AU 21 35162129 35162129 single base substitution C T intron_variant MELA-AU 21 35162249 35162249 single base substitution C T intron_variant MELA-AU 21 35163166 35163166 single base substitution G A intron_variant MELA-AU 21 35164549 35164549 single base substitution C T intron_variant MELA-AU 21 35164599 35164599 single base substitution C T intron_variant MELA-AU 21 35164833 35164833 single base substitution T A intron_variant MELA-AU 21 35164907 35164907 single base substitution C T intron_variant MELA-AU 21 35164907 35164907 single base substitution C T upstream_gene_variant MELA-AU 21 35165211 35165211 single base substitution C T intron_variant MELA-AU 21 35165211 35165211 single base substitution C T upstream_gene_variant MELA-AU 21 35165215 35165215 single base substitution T G intron_variant MELA-AU 21 35165215 35165215 single base substitution T G upstream_gene_variant MELA-AU 21 35165219 35165219 single base substitution C T intron_variant MELA-AU 21 35165219 35165219 single base substitution C T upstream_gene_variant MELA-AU 21 35165298 35165298 single base substitution C T intron_variant MELA-AU 21 35165298 35165298 single base substitution C T upstream_gene_variant MELA-AU 21 35165439 35165439 single base substitution A G intron_variant MELA-AU 21 35165439 35165439 single base substitution A G upstream_gene_variant MELA-AU 21 35165570 35165570 single base substitution T A intron_variant MELA-AU 21 35165570 35165570 single base substitution T A upstream_gene_variant MELA-AU 21 35165743 35165743 single base substitution C T intron_variant MELA-AU 21 35165743 35165743 single base substitution C T upstream_gene_variant MELA-AU 21 35166306 35166306 single base substitution C T intron_variant MELA-AU 21 35166306 35166306 single base substitution C T upstream_gene_variant MELA-AU 21 35166542 35166542 single base substitution C T intron_variant MELA-AU 21 35166542 35166542 single base substitution C T upstream_gene_variant MELA-AU 21 35166652 35166652 single base substitution G A missense_variant R574K 1721G>A MELA-AU 21 35166652 35166652 single base substitution G A missense_variant R611K 1832G>A MELA-AU 21 35166652 35166652 single base substitution G A upstream_gene_variant MELA-AU 21 35166767 35166767 single base substitution C G synonymous_variant A612A 1836C>G MELA-AU 21 35166767 35166767 single base substitution C G synonymous_variant A649A 1947C>G MELA-AU 21 35166767 35166767 single base substitution C G upstream_gene_variant MELA-AU 21 35167139 35167139 single base substitution C T intron_variant MELA-AU 21 35167139 35167139 single base substitution C T upstream_gene_variant MELA-AU 21 35167423 35167423 single base substitution C T intron_variant MELA-AU 21 35167423 35167423 single base substitution C T upstream_gene_variant MELA-AU 21 35167821 35167821 single base substitution C T intron_variant MELA-AU 21 35167821 35167821 single base substitution C T upstream_gene_variant MELA-AU 21 35168036 35168036 single base substitution C T intron_variant MELA-AU 21 35168036 35168036 single base substitution C T upstream_gene_variant MELA-AU 21 35168541 35168541 single base substitution C T intron_variant MELA-AU 21 35168541 35168541 single base substitution C T upstream_gene_variant MELA-AU 21 35169260 35169260 single base substitution C T intron_variant MELA-AU 21 35169260 35169260 single base substitution C T upstream_gene_variant MELA-AU 21 35170403 35170403 single base substitution C T intron_variant MELA-AU 21 35170403 35170403 single base substitution C T upstream_gene_variant MELA-AU 21 35171227 35171227 single base substitution G A intron_variant MELA-AU 21 35171227 35171227 single base substitution G A upstream_gene_variant MELA-AU 21 35171856 35171856 single base substitution C T intron_variant MELA-AU 21 35171856 35171856 single base substitution C T upstream_gene_variant MELA-AU 21 35172095 35172095 single base substitution C T intron_variant MELA-AU 21 35172095 35172095 single base substitution C T upstream_gene_variant MELA-AU 21 35172170 35172171 multiple base substitution (>=2bp and <=200bp) AC GT exon_variant MELA-AU 21 35172170 35172171 multiple base substitution (>=2bp and <=200bp) AC GT synonymous_variant AL710 MELA-AU 21 35172170 35172171 multiple base substitution (>=2bp and <=200bp) AC GT synonymous_variant AL747 MELA-AU 21 35172170 35172171 multiple base substitution (>=2bp and <=200bp) AC GT upstream_gene_variant MELA-AU 21 35172296 35172296 single base substitution C T intron_variant MELA-AU 21 35172372 35172372 single base substitution G A intron_variant MELA-AU 21 35172502 35172502 single base substitution C T intron_variant MELA-AU 21 35172684 35172684 single base substitution C T intron_variant MELA-AU 21 35172803 35172803 single base substitution C T intron_variant MELA-AU 21 35172894 35172894 single base substitution G A intron_variant MELA-AU 21 35173235 35173235 single base substitution C T intron_variant MELA-AU 21 35173705 35173705 single base substitution C T intron_variant MELA-AU 21 35173707 35173707 single base substitution T C intron_variant MELA-AU 21 35174477 35174477 single base substitution A T intron_variant MELA-AU 21 35174526 35174526 single base substitution C T intron_variant MELA-AU 21 35174609 35174609 single base substitution C T intron_variant MELA-AU 21 35174898 35174898 single base substitution A T intron_variant MELA-AU 21 35175624 35175624 single base substitution C T intron_variant MELA-AU 21 35175646 35175646 single base substitution C T intron_variant MELA-AU 21 35176746 35176746 single base substitution G A intron_variant MELA-AU 21 35176913 35176913 single base substitution C T intron_variant MELA-AU 21 35177267 35177267 single base substitution T C intron_variant MELA-AU 21 35177447 35177447 single base substitution C T intron_variant MELA-AU 21 35177642 35177642 single base substitution C T intron_variant MELA-AU 21 35177694 35177694 single base substitution C T intron_variant MELA-AU 21 35177873 35177873 single base substitution C T intron_variant MELA-AU 21 35178489 35178489 insertion of <=200bp - T intron_variant MELA-AU 21 35179100 35179101 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35179100 35179101 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 21 35179632 35179632 single base substitution C T intron_variant MELA-AU 21 35179632 35179632 single base substitution C T upstream_gene_variant MELA-AU 21 35179740 35179740 single base substitution C T intron_variant MELA-AU 21 35179740 35179740 single base substitution C T upstream_gene_variant MELA-AU 21 35180230 35180230 single base substitution C T intron_variant MELA-AU 21 35180230 35180230 single base substitution C T upstream_gene_variant MELA-AU 21 35180950 35180950 single base substitution C T intron_variant MELA-AU 21 35180950 35180950 single base substitution C T upstream_gene_variant MELA-AU 21 35181255 35181255 single base substitution C T intron_variant MELA-AU 21 35181255 35181255 single base substitution C T upstream_gene_variant MELA-AU 21 35182032 35182032 single base substitution G A intron_variant MELA-AU 21 35182032 35182032 single base substitution G A upstream_gene_variant MELA-AU 21 35182140 35182140 single base substitution C T intron_variant MELA-AU 21 35182140 35182140 single base substitution C T upstream_gene_variant MELA-AU 21 35182324 35182324 single base substitution C T intron_variant MELA-AU 21 35182324 35182324 single base substitution C T upstream_gene_variant MELA-AU 21 35182409 35182409 single base substitution C T intron_variant MELA-AU 21 35182409 35182409 single base substitution C T upstream_gene_variant MELA-AU 21 35182410 35182410 single base substitution C T intron_variant MELA-AU 21 35182410 35182410 single base substitution C T upstream_gene_variant MELA-AU 21 35182809 35182809 single base substitution C T intron_variant MELA-AU 21 35182809 35182809 single base substitution C T upstream_gene_variant MELA-AU 21 35183964 35183964 single base substitution C T intron_variant MELA-AU 21 35184574 35184574 single base substitution C T intron_variant MELA-AU 21 35185747 35185747 single base substitution C T intron_variant MELA-AU 21 35185747 35185747 single base substitution C T upstream_gene_variant MELA-AU 21 35185767 35185767 single base substitution C T intron_variant MELA-AU 21 35185767 35185767 single base substitution C T upstream_gene_variant MELA-AU 21 35185804 35185804 single base substitution G A intron_variant MELA-AU 21 35185804 35185804 single base substitution G A upstream_gene_variant MELA-AU 21 35186294 35186294 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35186294 35186294 single base substitution C T exon_variant MELA-AU 21 35186294 35186294 single base substitution C T missense_variant P116L 347C>T MELA-AU 21 35186294 35186294 single base substitution C T missense_variant P840L 2519C>T MELA-AU 21 35186294 35186294 single base substitution C T missense_variant P877L 2630C>T MELA-AU 21 35186294 35186294 single base substitution C T missense_variant P882L 2645C>T MELA-AU 21 35186294 35186294 single base substitution C T upstream_gene_variant MELA-AU 21 35186552 35186552 single base substitution T G exon_variant MELA-AU 21 35186552 35186552 single base substitution T G intron_variant MELA-AU 21 35186552 35186552 single base substitution T G upstream_gene_variant MELA-AU 21 35186807 35186807 single base substitution G C exon_variant MELA-AU 21 35186807 35186807 single base substitution G C intron_variant MELA-AU 21 35186807 35186807 single base substitution G C upstream_gene_variant MELA-AU 21 35188456 35188456 single base substitution C T downstream_gene_variant MELA-AU 21 35188456 35188456 single base substitution C T intron_variant MELA-AU 21 35188456 35188456 single base substitution C T upstream_gene_variant MELA-AU 21 35188677 35188677 single base substitution C T downstream_gene_variant MELA-AU 21 35188677 35188677 single base substitution C T intron_variant MELA-AU 21 35188677 35188677 single base substitution C T upstream_gene_variant MELA-AU 21 35188851 35188851 single base substitution G A downstream_gene_variant MELA-AU 21 35188851 35188851 single base substitution G A intron_variant MELA-AU 21 35188851 35188851 single base substitution G A upstream_gene_variant MELA-AU 21 35189769 35189769 single base substitution C T downstream_gene_variant MELA-AU 21 35189769 35189769 single base substitution C T intron_variant MELA-AU 21 35189769 35189769 single base substitution C T missense_variant H222Y 664C>T MELA-AU 21 35189769 35189769 single base substitution C T missense_variant H983Y 2947C>T MELA-AU 21 35189769 35189769 single base substitution C T upstream_gene_variant MELA-AU 21 35191088 35191088 single base substitution T A downstream_gene_variant MELA-AU 21 35191088 35191088 single base substitution T A intron_variant MELA-AU 21 35191897 35191897 single base substitution C T downstream_gene_variant MELA-AU 21 35191897 35191897 single base substitution C T intron_variant MELA-AU 21 35192262 35192262 single base substitution C T downstream_gene_variant MELA-AU 21 35192262 35192262 single base substitution C T intron_variant MELA-AU 21 35192455 35192455 single base substitution C T downstream_gene_variant MELA-AU 21 35192455 35192455 single base substitution C T intron_variant MELA-AU 21 35192758 35192758 single base substitution G A downstream_gene_variant MELA-AU 21 35192758 35192758 single base substitution G A intron_variant MELA-AU 21 35195008 35195008 single base substitution C T downstream_gene_variant MELA-AU 21 35195008 35195008 single base substitution C T intron_variant MELA-AU 21 35195340 35195340 single base substitution C T intron_variant MELA-AU 21 35195709 35195709 single base substitution C T intron_variant MELA-AU 21 35196236 35196236 single base substitution C T intron_variant MELA-AU 21 35196440 35196440 single base substitution C T intron_variant MELA-AU 21 35196440 35196440 single base substitution C T upstream_gene_variant MELA-AU 21 35196473 35196473 single base substitution G A intron_variant MELA-AU 21 35196473 35196473 single base substitution G A upstream_gene_variant MELA-AU 21 35196865 35196865 single base substitution G A intron_variant MELA-AU 21 35196865 35196865 single base substitution G A upstream_gene_variant MELA-AU 21 35198346 35198346 single base substitution A T intron_variant MELA-AU 21 35198346 35198346 single base substitution A T upstream_gene_variant MELA-AU 21 35198621 35198621 single base substitution C T intron_variant MELA-AU 21 35198621 35198621 single base substitution C T upstream_gene_variant MELA-AU 21 35198775 35198775 single base substitution G A intron_variant MELA-AU 21 35198775 35198775 single base substitution G A upstream_gene_variant MELA-AU 21 35198974 35198974 single base substitution C T intron_variant MELA-AU 21 35198974 35198974 single base substitution C T upstream_gene_variant MELA-AU 21 35199672 35199672 single base substitution C T intron_variant MELA-AU 21 35199672 35199672 single base substitution C T upstream_gene_variant MELA-AU 21 35199814 35199814 single base substitution C T intron_variant MELA-AU 21 35199814 35199814 single base substitution C T upstream_gene_variant MELA-AU 21 35199851 35199851 single base substitution C T intron_variant MELA-AU 21 35199851 35199851 single base substitution C T upstream_gene_variant MELA-AU 21 35200229 35200229 single base substitution G A intron_variant MELA-AU 21 35200229 35200229 single base substitution G A upstream_gene_variant MELA-AU 21 35200841 35200841 single base substitution C T intron_variant MELA-AU 21 35200841 35200841 single base substitution C T upstream_gene_variant MELA-AU 21 35200954 35200954 single base substitution C T intron_variant MELA-AU 21 35200954 35200954 single base substitution C T upstream_gene_variant MELA-AU 21 35201227 35201227 single base substitution C T intron_variant MELA-AU 21 35201227 35201227 single base substitution C T upstream_gene_variant MELA-AU 21 35201484 35201484 single base substitution C A downstream_gene_variant MELA-AU 21 35201484 35201484 single base substitution C A exon_variant MELA-AU 21 35201484 35201484 single base substitution C A intron_variant MELA-AU 21 35201654 35201654 single base substitution C T downstream_gene_variant MELA-AU 21 35201654 35201654 single base substitution C T exon_variant MELA-AU 21 35201654 35201654 single base substitution C T intron_variant MELA-AU 21 35201802 35201802 single base substitution G A downstream_gene_variant MELA-AU 21 35201802 35201802 single base substitution G A exon_variant MELA-AU 21 35201802 35201802 single base substitution G A intron_variant MELA-AU 21 35202280 35202280 single base substitution C T downstream_gene_variant MELA-AU 21 35202280 35202280 single base substitution C T intron_variant MELA-AU 21 35202314 35202314 single base substitution C T downstream_gene_variant MELA-AU 21 35202314 35202314 single base substitution C T intron_variant MELA-AU 21 35202377 35202377 single base substitution C T downstream_gene_variant MELA-AU 21 35202377 35202377 single base substitution C T intron_variant MELA-AU 21 35202462 35202462 single base substitution G T downstream_gene_variant MELA-AU 21 35202462 35202462 single base substitution G T intron_variant MELA-AU 21 35202653 35202653 single base substitution C G downstream_gene_variant MELA-AU 21 35202653 35202653 single base substitution C G intron_variant MELA-AU 21 35203275 35203275 single base substitution C T downstream_gene_variant MELA-AU 21 35203275 35203275 single base substitution C T intron_variant MELA-AU 21 35203799 35203799 single base substitution A G downstream_gene_variant MELA-AU 21 35203799 35203799 single base substitution A G intron_variant MELA-AU 21 35203896 35203896 single base substitution T C downstream_gene_variant MELA-AU 21 35203896 35203896 single base substitution T C intron_variant MELA-AU 21 35203984 35203984 single base substitution G C downstream_gene_variant MELA-AU 21 35203984 35203984 single base substitution G C intron_variant MELA-AU 21 35204275 35204275 single base substitution C T downstream_gene_variant MELA-AU 21 35204275 35204275 single base substitution C T intron_variant MELA-AU 21 35204730 35204730 single base substitution C T downstream_gene_variant MELA-AU 21 35204730 35204730 single base substitution C T intron_variant MELA-AU 21 35205259 35205259 single base substitution C T downstream_gene_variant MELA-AU 21 35205259 35205259 single base substitution C T intron_variant MELA-AU 21 35205390 35205390 single base substitution T C downstream_gene_variant MELA-AU 21 35205390 35205390 single base substitution T C intron_variant MELA-AU 21 35205488 35205488 single base substitution G A downstream_gene_variant MELA-AU 21 35205488 35205488 single base substitution G A intron_variant MELA-AU 21 35206335 35206335 single base substitution C T downstream_gene_variant MELA-AU 21 35206335 35206335 single base substitution C T intron_variant MELA-AU 21 35206351 35206351 single base substitution C T downstream_gene_variant MELA-AU 21 35206351 35206351 single base substitution C T intron_variant MELA-AU 21 35206644 35206644 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35206644 35206644 single base substitution C T downstream_gene_variant MELA-AU 21 35206644 35206644 single base substitution C T exon_variant MELA-AU 21 35206644 35206644 single base substitution C T intron_variant MELA-AU 21 35206644 35206644 single base substitution C T missense_variant P1053S 3157C>T MELA-AU 21 35206644 35206644 single base substitution C T missense_variant P1058S 3172C>T MELA-AU 21 35206644 35206644 single base substitution C T missense_variant P1087S 3259C>T MELA-AU 21 35206644 35206644 single base substitution C T missense_variant P1124S 3370C>T MELA-AU 21 35206644 35206644 single base substitution C T missense_variant P1129S 3385C>T MELA-AU 21 35206671 35206671 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35206671 35206671 single base substitution C T downstream_gene_variant MELA-AU 21 35206671 35206671 single base substitution C T exon_variant MELA-AU 21 35206671 35206671 single base substitution C T intron_variant MELA-AU 21 35206671 35206671 single base substitution C T missense_variant P1062S 3184C>T MELA-AU 21 35206671 35206671 single base substitution C T missense_variant P1067S 3199C>T MELA-AU 21 35206671 35206671 single base substitution C T missense_variant P1096S 3286C>T MELA-AU 21 35206671 35206671 single base substitution C T missense_variant P1133S 3397C>T MELA-AU 21 35206671 35206671 single base substitution C T missense_variant P1138S 3412C>T MELA-AU 21 35207124 35207124 single base substitution C T downstream_gene_variant MELA-AU 21 35207124 35207124 single base substitution C T intron_variant MELA-AU 21 35207613 35207613 single base substitution C T downstream_gene_variant MELA-AU 21 35207613 35207613 single base substitution C T intron_variant MELA-AU 21 35207661 35207661 single base substitution C T downstream_gene_variant MELA-AU 21 35207661 35207661 single base substitution C T intron_variant MELA-AU 21 35207718 35207718 single base substitution A C downstream_gene_variant MELA-AU 21 35207718 35207718 single base substitution A C intron_variant MELA-AU 21 35208278 35208278 single base substitution C T downstream_gene_variant MELA-AU 21 35208278 35208278 single base substitution C T intron_variant MELA-AU 21 35208415 35208415 single base substitution T C downstream_gene_variant MELA-AU 21 35208415 35208415 single base substitution T C intron_variant MELA-AU 21 35208910 35208911 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 21 35208910 35208911 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 35208910 35208911 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 21 35208910 35208911 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35208910 35208911 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T1136I 3407CC>TT MELA-AU 21 35208910 35208911 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T1141I 3422CC>TT MELA-AU 21 35208910 35208911 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T1170I 3509CC>TT MELA-AU 21 35208910 35208911 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T1207I 3620CC>TT MELA-AU 21 35208910 35208911 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T1212I 3635CC>TT MELA-AU 21 35208982 35208982 single base substitution C T downstream_gene_variant MELA-AU 21 35208982 35208982 single base substitution C T intron_variant MELA-AU 21 35209173 35209173 single base substitution C T downstream_gene_variant MELA-AU 21 35209173 35209173 single base substitution C T intron_variant MELA-AU 21 35209229 35209229 single base substitution C T downstream_gene_variant MELA-AU 21 35209229 35209229 single base substitution C T intron_variant MELA-AU 21 35209349 35209349 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35209349 35209349 single base substitution C T downstream_gene_variant MELA-AU 21 35209349 35209349 single base substitution C T intron_variant MELA-AU 21 35209463 35209463 single base substitution T C 3_prime_UTR_variant MELA-AU 21 35209463 35209463 single base substitution T C downstream_gene_variant MELA-AU 21 35209463 35209463 single base substitution T C intron_variant MELA-AU 21 35210132 35210132 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35210132 35210132 single base substitution G A downstream_gene_variant MELA-AU 21 35210132 35210132 single base substitution G A intron_variant MELA-AU 21 35210191 35210191 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35210191 35210191 single base substitution C T downstream_gene_variant MELA-AU 21 35210191 35210191 single base substitution C T intron_variant MELA-AU 21 35210403 35210403 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35210403 35210403 single base substitution C T downstream_gene_variant MELA-AU 21 35210403 35210403 single base substitution C T intron_variant MELA-AU 21 35210567 35210567 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35210567 35210567 single base substitution C T downstream_gene_variant MELA-AU 21 35210567 35210567 single base substitution C T intron_variant MELA-AU 21 35210604 35210604 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35210604 35210604 single base substitution G A downstream_gene_variant MELA-AU 21 35210604 35210604 single base substitution G A intron_variant MELA-AU 21 35210953 35210953 single base substitution C T downstream_gene_variant MELA-AU 21 35210953 35210953 single base substitution C T intron_variant MELA-AU 21 35210994 35210994 single base substitution C T downstream_gene_variant MELA-AU 21 35210994 35210994 single base substitution C T intron_variant MELA-AU 21 35211454 35211454 single base substitution G A downstream_gene_variant MELA-AU 21 35211454 35211454 single base substitution G A intron_variant MELA-AU 21 35211467 35211468 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 35211467 35211468 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35211831 35211832 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 35211831 35211832 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35211945 35211946 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 35211945 35211946 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 35212203 35212203 single base substitution C T downstream_gene_variant MELA-AU 21 35212203 35212203 single base substitution C T intron_variant MELA-AU 21 35212415 35212415 single base substitution T C downstream_gene_variant MELA-AU 21 35212415 35212415 single base substitution T C intron_variant MELA-AU 21 35212467 35212467 single base substitution C T downstream_gene_variant MELA-AU 21 35212467 35212467 single base substitution C T intron_variant MELA-AU 21 35213146 35213146 single base substitution C T downstream_gene_variant MELA-AU 21 35213146 35213146 single base substitution C T intron_variant MELA-AU 21 35213730 35213730 single base substitution A G downstream_gene_variant MELA-AU 21 35213730 35213730 single base substitution A G intron_variant MELA-AU 21 35214255 35214255 single base substitution T A downstream_gene_variant MELA-AU 21 35214255 35214255 single base substitution T A intron_variant MELA-AU 21 35214656 35214656 single base substitution G T downstream_gene_variant MELA-AU 21 35214656 35214656 single base substitution G T intron_variant MELA-AU 21 35215043 35215043 single base substitution C T downstream_gene_variant MELA-AU 21 35215043 35215043 single base substitution C T intron_variant MELA-AU 21 35215944 35215944 single base substitution C T intron_variant MELA-AU 21 35215967 35215967 single base substitution G A intron_variant MELA-AU 21 35216101 35216102 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 35216421 35216421 single base substitution C T intron_variant MELA-AU 21 35216499 35216499 single base substitution G A intron_variant MELA-AU 21 35216801 35216801 single base substitution C T intron_variant MELA-AU 21 35217025 35217025 single base substitution C T intron_variant MELA-AU 21 35217208 35217208 single base substitution C T intron_variant MELA-AU 21 35217441 35217441 single base substitution G A intron_variant MELA-AU 21 35217517 35217517 single base substitution G A intron_variant MELA-AU 21 35217670 35217670 single base substitution G A intron_variant MELA-AU 21 35217783 35217783 single base substitution C T intron_variant MELA-AU 21 35217802 35217802 single base substitution C T intron_variant MELA-AU 21 35217877 35217877 single base substitution C T intron_variant MELA-AU 21 35217878 35217878 single base substitution C T intron_variant MELA-AU 21 35217925 35217925 single base substitution C T intron_variant MELA-AU 21 35218304 35218304 single base substitution T C intron_variant MELA-AU 21 35218500 35218500 single base substitution C T intron_variant MELA-AU 21 35218858 35218858 single base substitution C T intron_variant MELA-AU 21 35218940 35218940 single base substitution G A intron_variant MELA-AU 21 35219278 35219278 single base substitution C T intron_variant MELA-AU 21 35219349 35219349 single base substitution G A intron_variant MELA-AU 21 35219381 35219381 single base substitution C T intron_variant MELA-AU 21 35220127 35220127 single base substitution C T intron_variant MELA-AU 21 35220369 35220369 single base substitution C T intron_variant MELA-AU 21 35220453 35220453 single base substitution C T intron_variant MELA-AU 21 35220678 35220678 single base substitution C T intron_variant MELA-AU 21 35220889 35220889 single base substitution C T intron_variant MELA-AU 21 35221130 35221130 single base substitution C T intron_variant MELA-AU 21 35221136 35221136 single base substitution C T intron_variant MELA-AU 21 35221189 35221189 single base substitution C T intron_variant MELA-AU 21 35221336 35221336 single base substitution G A intron_variant MELA-AU 21 35222146 35222146 single base substitution C T intron_variant MELA-AU 21 35222656 35222656 single base substitution G A intron_variant MELA-AU 21 35222726 35222726 single base substitution C T intron_variant MELA-AU 21 35223127 35223127 single base substitution G A intron_variant MELA-AU 21 35223644 35223644 single base substitution C T intron_variant MELA-AU 21 35224153 35224153 single base substitution T C intron_variant MELA-AU 21 35224176 35224176 single base substitution T A intron_variant MELA-AU 21 35224210 35224210 single base substitution C T intron_variant MELA-AU 21 35224612 35224612 single base substitution G T intron_variant MELA-AU 21 35224621 35224621 single base substitution C T intron_variant MELA-AU 21 35224883 35224883 single base substitution C T intron_variant MELA-AU 21 35224946 35224946 single base substitution G A intron_variant MELA-AU 21 35225125 35225125 single base substitution C T intron_variant MELA-AU 21 35225130 35225130 single base substitution G A intron_variant MELA-AU 21 35225135 35225135 single base substitution G A intron_variant MELA-AU 21 35225306 35225306 single base substitution A G intron_variant MELA-AU 21 35225941 35225941 single base substitution C T intron_variant MELA-AU 21 35226188 35226188 single base substitution G A intron_variant MELA-AU 21 35226188 35226188 single base substitution G A upstream_gene_variant MELA-AU 21 35226306 35226306 single base substitution C T intron_variant MELA-AU 21 35226306 35226306 single base substitution C T upstream_gene_variant MELA-AU 21 35226680 35226680 single base substitution G A intron_variant MELA-AU 21 35226680 35226680 single base substitution G A upstream_gene_variant MELA-AU 21 35226696 35226696 single base substitution A G intron_variant MELA-AU 21 35226696 35226696 single base substitution A G upstream_gene_variant MELA-AU 21 35228038 35228038 single base substitution G A intron_variant MELA-AU 21 35228038 35228038 single base substitution G A upstream_gene_variant MELA-AU 21 35228289 35228289 single base substitution G C intron_variant MELA-AU 21 35228289 35228289 single base substitution G C upstream_gene_variant MELA-AU 21 35228637 35228637 single base substitution C T intron_variant MELA-AU 21 35228637 35228637 single base substitution C T upstream_gene_variant MELA-AU 21 35228864 35228864 single base substitution C T intron_variant MELA-AU 21 35228864 35228864 single base substitution C T upstream_gene_variant MELA-AU 21 35229407 35229407 single base substitution C T downstream_gene_variant MELA-AU 21 35229407 35229407 single base substitution C T intron_variant MELA-AU 21 35229407 35229407 single base substitution C T upstream_gene_variant MELA-AU 21 35229447 35229447 single base substitution G A downstream_gene_variant MELA-AU 21 35229447 35229447 single base substitution G A intron_variant MELA-AU 21 35229447 35229447 single base substitution G A upstream_gene_variant MELA-AU 21 35229639 35229639 single base substitution C T downstream_gene_variant MELA-AU 21 35229639 35229639 single base substitution C T intron_variant MELA-AU 21 35229639 35229639 single base substitution C T upstream_gene_variant MELA-AU 21 35229647 35229647 single base substitution C T downstream_gene_variant MELA-AU 21 35229647 35229647 single base substitution C T intron_variant MELA-AU 21 35229647 35229647 single base substitution C T upstream_gene_variant MELA-AU 21 35229770 35229770 single base substitution C T downstream_gene_variant MELA-AU 21 35229770 35229770 single base substitution C T intron_variant MELA-AU 21 35229770 35229770 single base substitution C T upstream_gene_variant MELA-AU 21 35230107 35230107 single base substitution C T downstream_gene_variant MELA-AU 21 35230107 35230107 single base substitution C T intron_variant MELA-AU 21 35230107 35230107 single base substitution C T upstream_gene_variant MELA-AU 21 35230399 35230399 single base substitution A C downstream_gene_variant MELA-AU 21 35230399 35230399 single base substitution A C intron_variant MELA-AU 21 35230399 35230399 single base substitution A C upstream_gene_variant MELA-AU 21 35230435 35230435 single base substitution C T downstream_gene_variant MELA-AU 21 35230435 35230435 single base substitution C T intron_variant MELA-AU 21 35230435 35230435 single base substitution C T upstream_gene_variant MELA-AU 21 35230766 35230766 single base substitution C T downstream_gene_variant MELA-AU 21 35230766 35230766 single base substitution C T intron_variant MELA-AU 21 35230766 35230766 single base substitution C T upstream_gene_variant MELA-AU 21 35230801 35230801 single base substitution C T downstream_gene_variant MELA-AU 21 35230801 35230801 single base substitution C T intron_variant MELA-AU 21 35230801 35230801 single base substitution C T upstream_gene_variant MELA-AU 21 35230908 35230908 single base substitution C T downstream_gene_variant MELA-AU 21 35230908 35230908 single base substitution C T intron_variant MELA-AU 21 35230908 35230908 single base substitution C T upstream_gene_variant MELA-AU 21 35231633 35231633 single base substitution G A downstream_gene_variant MELA-AU 21 35231633 35231633 single base substitution G A intron_variant MELA-AU 21 35231707 35231707 single base substitution G A downstream_gene_variant MELA-AU 21 35231707 35231707 single base substitution G A intron_variant MELA-AU 21 35231854 35231854 single base substitution C T downstream_gene_variant MELA-AU 21 35231854 35231854 single base substitution C T intron_variant MELA-AU 21 35231923 35231923 single base substitution C T downstream_gene_variant MELA-AU 21 35231923 35231923 single base substitution C T intron_variant MELA-AU 21 35231964 35231964 single base substitution C T downstream_gene_variant MELA-AU 21 35231964 35231964 single base substitution C T intron_variant MELA-AU 21 35231973 35231973 single base substitution G A downstream_gene_variant MELA-AU 21 35231973 35231973 single base substitution G A intron_variant MELA-AU 21 35232129 35232129 single base substitution C T downstream_gene_variant MELA-AU 21 35232129 35232129 single base substitution C T intron_variant MELA-AU 21 35232241 35232241 single base substitution G A downstream_gene_variant MELA-AU 21 35232241 35232241 single base substitution G A intron_variant MELA-AU 21 35232506 35232506 single base substitution G A downstream_gene_variant MELA-AU 21 35232506 35232506 single base substitution G A intron_variant MELA-AU 21 35232525 35232525 single base substitution C T downstream_gene_variant MELA-AU 21 35232525 35232525 single base substitution C T intron_variant MELA-AU 21 35232745 35232745 single base substitution G A downstream_gene_variant MELA-AU 21 35232745 35232745 single base substitution G A intron_variant MELA-AU 21 35232985 35232985 single base substitution C T downstream_gene_variant MELA-AU 21 35232985 35232985 single base substitution C T intron_variant MELA-AU 21 35233757 35233757 single base substitution G A downstream_gene_variant MELA-AU 21 35233757 35233757 single base substitution G A intron_variant MELA-AU 21 35233874 35233874 single base substitution C T downstream_gene_variant MELA-AU 21 35233874 35233874 single base substitution C T intron_variant MELA-AU 21 35234712 35234712 single base substitution G A intron_variant MELA-AU 21 35235422 35235422 single base substitution C T intron_variant MELA-AU 21 35235835 35235835 single base substitution C T intron_variant MELA-AU 21 35235901 35235901 single base substitution C T intron_variant MELA-AU 21 35236211 35236211 single base substitution C T intron_variant MELA-AU 21 35236330 35236330 single base substitution G A intron_variant MELA-AU 21 35236423 35236423 single base substitution C T intron_variant MELA-AU 21 35236753 35236753 single base substitution C T intron_variant MELA-AU 21 35236801 35236801 single base substitution C T intron_variant MELA-AU 21 35236827 35236827 single base substitution G A intron_variant MELA-AU 21 35237108 35237108 single base substitution C T intron_variant MELA-AU 21 35237169 35237169 single base substitution G A intron_variant MELA-AU 21 35237176 35237176 single base substitution G A intron_variant MELA-AU 21 35237518 35237518 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35237518 35237518 single base substitution C T synonymous_variant I1313I 3939C>T MELA-AU 21 35237518 35237518 single base substitution C T synonymous_variant I1318I 3954C>T MELA-AU 21 35237518 35237518 single base substitution C T synonymous_variant I53I 159C>T MELA-AU 21 35238141 35238141 single base substitution C T intron_variant MELA-AU 21 35238164 35238164 single base substitution G A intron_variant MELA-AU 21 35238175 35238175 single base substitution C T intron_variant MELA-AU 21 35238240 35238240 single base substitution C T intron_variant MELA-AU 21 35238267 35238267 single base substitution C T intron_variant MELA-AU 21 35238275 35238275 single base substitution G A intron_variant MELA-AU 21 35238590 35238590 single base substitution G A intron_variant MELA-AU 21 35238600 35238600 single base substitution T G intron_variant MELA-AU 21 35239033 35239033 single base substitution C T intron_variant MELA-AU 21 35239224 35239224 single base substitution G A intron_variant MELA-AU 21 35239408 35239408 single base substitution C T intron_variant MELA-AU 21 35239557 35239557 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35239557 35239557 single base substitution G A synonymous_variant R100R 300G>A MELA-AU 21 35239557 35239557 single base substitution G A synonymous_variant R1360R 4080G>A MELA-AU 21 35239557 35239557 single base substitution G A synonymous_variant R1365R 4095G>A MELA-AU 21 35239566 35239566 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35239566 35239566 single base substitution G A synonymous_variant G103G 309G>A MELA-AU 21 35239566 35239566 single base substitution G A synonymous_variant G1363G 4089G>A MELA-AU 21 35239566 35239566 single base substitution G A synonymous_variant G1368G 4104G>A MELA-AU 21 35239884 35239884 single base substitution C T intron_variant MELA-AU 21 35240112 35240112 single base substitution C T intron_variant MELA-AU 21 35240121 35240121 single base substitution G A intron_variant MELA-AU 21 35240369 35240369 single base substitution C T intron_variant MELA-AU 21 35240393 35240393 single base substitution C T intron_variant MELA-AU 21 35240833 35240833 single base substitution C T intron_variant MELA-AU 21 35241039 35241039 single base substitution C T intron_variant MELA-AU 21 35241114 35241114 single base substitution G A intron_variant MELA-AU 21 35241897 35241897 single base substitution G A intron_variant MELA-AU 21 35241914 35241914 single base substitution G A intron_variant MELA-AU 21 35241925 35241926 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35241939 35241939 single base substitution G A intron_variant MELA-AU 21 35241984 35241984 single base substitution A T intron_variant MELA-AU 21 35242009 35242009 single base substitution G A intron_variant MELA-AU 21 35242150 35242150 single base substitution T A intron_variant MELA-AU 21 35242247 35242247 single base substitution C T intron_variant MELA-AU 21 35242255 35242255 single base substitution C T intron_variant MELA-AU 21 35242577 35242577 single base substitution T A intron_variant MELA-AU 21 35242700 35242700 single base substitution C T intron_variant MELA-AU 21 35242700 35242700 single base substitution C T upstream_gene_variant MELA-AU 21 35242971 35242971 single base substitution C T intron_variant MELA-AU 21 35242971 35242971 single base substitution C T upstream_gene_variant MELA-AU 21 35243077 35243077 single base substitution G A intron_variant MELA-AU 21 35243077 35243077 single base substitution G A upstream_gene_variant MELA-AU 21 35243233 35243233 single base substitution C T intron_variant MELA-AU 21 35243233 35243233 single base substitution C T upstream_gene_variant MELA-AU 21 35244322 35244322 single base substitution C T intron_variant MELA-AU 21 35244322 35244322 single base substitution C T upstream_gene_variant MELA-AU 21 35244454 35244454 single base substitution C T intron_variant MELA-AU 21 35244454 35244454 single base substitution C T upstream_gene_variant MELA-AU 21 35244455 35244455 single base substitution C T intron_variant MELA-AU 21 35244455 35244455 single base substitution C T upstream_gene_variant MELA-AU 21 35244514 35244514 single base substitution T C intron_variant MELA-AU 21 35244514 35244514 single base substitution T C upstream_gene_variant MELA-AU 21 35244577 35244577 single base substitution G A intron_variant MELA-AU 21 35244577 35244577 single base substitution G A upstream_gene_variant MELA-AU 21 35244682 35244682 single base substitution G A intron_variant MELA-AU 21 35244682 35244682 single base substitution G A upstream_gene_variant MELA-AU 21 35244870 35244870 single base substitution C T intron_variant MELA-AU 21 35244870 35244870 single base substitution C T upstream_gene_variant MELA-AU 21 35244899 35244899 single base substitution G A intron_variant MELA-AU 21 35244899 35244899 single base substitution G A upstream_gene_variant MELA-AU 21 35244904 35244904 single base substitution C T intron_variant MELA-AU 21 35244904 35244904 single base substitution C T upstream_gene_variant MELA-AU 21 35244979 35244979 single base substitution G A intron_variant MELA-AU 21 35244979 35244979 single base substitution G A upstream_gene_variant MELA-AU 21 35245834 35245834 single base substitution G A intron_variant MELA-AU 21 35245834 35245834 single base substitution G A upstream_gene_variant MELA-AU 21 35246003 35246003 single base substitution C T intron_variant MELA-AU 21 35246003 35246003 single base substitution C T upstream_gene_variant MELA-AU 21 35246059 35246059 single base substitution C T intron_variant MELA-AU 21 35246059 35246059 single base substitution C T upstream_gene_variant MELA-AU 21 35246152 35246152 single base substitution G A intron_variant MELA-AU 21 35246152 35246152 single base substitution G A upstream_gene_variant MELA-AU 21 35246193 35246193 single base substitution G A intron_variant MELA-AU 21 35246193 35246193 single base substitution G A upstream_gene_variant MELA-AU 21 35246290 35246290 single base substitution C T intron_variant MELA-AU 21 35246290 35246290 single base substitution C T upstream_gene_variant MELA-AU 21 35246322 35246322 single base substitution C T intron_variant MELA-AU 21 35246322 35246322 single base substitution C T upstream_gene_variant MELA-AU 21 35246707 35246707 single base substitution G A intron_variant MELA-AU 21 35246707 35246707 single base substitution G A upstream_gene_variant MELA-AU 21 35246988 35246988 single base substitution C T intron_variant MELA-AU 21 35246988 35246988 single base substitution C T upstream_gene_variant MELA-AU 21 35247221 35247221 single base substitution G A intron_variant MELA-AU 21 35247221 35247221 single base substitution G A upstream_gene_variant MELA-AU 21 35247549 35247549 single base substitution C T intron_variant MELA-AU 21 35247549 35247549 single base substitution C T upstream_gene_variant MELA-AU 21 35247784 35247784 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35247784 35247784 single base substitution G A exon_variant MELA-AU 21 35247784 35247784 single base substitution G A intron_variant MELA-AU 21 35247784 35247784 single base substitution G A missense_variant E1429K 4285G>A MELA-AU 21 35247784 35247784 single base substitution G A missense_variant E1434K 4300G>A MELA-AU 21 35247784 35247784 single base substitution G A missense_variant E41K 121G>A MELA-AU 21 35247848 35247848 single base substitution C T intron_variant MELA-AU 21 35248075 35248075 single base substitution C T intron_variant MELA-AU 21 35248283 35248283 single base substitution C T intron_variant MELA-AU 21 35248386 35248386 single base substitution C T intron_variant MELA-AU 21 35248438 35248438 single base substitution T A intron_variant MELA-AU 21 35248532 35248532 single base substitution T C intron_variant MELA-AU 21 35248540 35248541 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 21 35248644 35248644 single base substitution C T intron_variant MELA-AU 21 35248926 35248926 single base substitution C T intron_variant MELA-AU 21 35249041 35249041 single base substitution A G intron_variant MELA-AU 21 35249197 35249197 single base substitution A G intron_variant MELA-AU 21 35249369 35249369 single base substitution T G intron_variant MELA-AU 21 35249388 35249388 single base substitution C T intron_variant MELA-AU 21 35249613 35249613 single base substitution C T intron_variant MELA-AU 21 35249829 35249829 single base substitution C T intron_variant MELA-AU 21 35249889 35249889 single base substitution G A intron_variant MELA-AU 21 35250206 35250206 single base substitution C T intron_variant MELA-AU 21 35250575 35250575 single base substitution G A intron_variant MELA-AU 21 35250685 35250685 single base substitution C T intron_variant MELA-AU 21 35250809 35250810 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 35250837 35250837 single base substitution C T intron_variant MELA-AU 21 35251068 35251068 single base substitution C T intron_variant MELA-AU 21 35251244 35251244 single base substitution G A intron_variant MELA-AU 21 35251566 35251566 single base substitution G A intron_variant MELA-AU 21 35251609 35251609 single base substitution C T intron_variant MELA-AU 21 35252254 35252254 single base substitution G A intron_variant MELA-AU 21 35252283 35252283 single base substitution C T intron_variant MELA-AU 21 35252512 35252512 single base substitution T C intron_variant MELA-AU 21 35252827 35252827 single base substitution G A intron_variant MELA-AU 21 35252846 35252846 single base substitution C T intron_variant MELA-AU 21 35252879 35252879 single base substitution C T intron_variant MELA-AU 21 35252983 35252983 single base substitution G A intron_variant MELA-AU 21 35253035 35253035 single base substitution C T intron_variant MELA-AU 21 35253110 35253110 single base substitution T C intron_variant MELA-AU 21 35253259 35253259 single base substitution G A intron_variant MELA-AU 21 35253366 35253366 single base substitution C T intron_variant MELA-AU 21 35253979 35253979 single base substitution C T intron_variant MELA-AU 21 35254064 35254064 single base substitution C T intron_variant MELA-AU 21 35254106 35254106 single base substitution G A intron_variant MELA-AU 21 35254285 35254285 single base substitution C T intron_variant MELA-AU 21 35254317 35254317 single base substitution G A intron_variant MELA-AU 21 35254387 35254387 single base substitution C T intron_variant MELA-AU 21 35254695 35254695 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35254695 35254695 single base substitution G A intron_variant MELA-AU 21 35254695 35254695 single base substitution G A missense_variant G1436E 4307G>A MELA-AU 21 35254695 35254695 single base substitution G A missense_variant G1492E 4475G>A MELA-AU 21 35254695 35254695 single base substitution G A missense_variant G1497E 4490G>A MELA-AU 21 35254695 35254695 single base substitution G A missense_variant G176E 527G>A MELA-AU 21 35254927 35254927 single base substitution C T intron_variant MELA-AU 21 35255224 35255224 single base substitution C T intron_variant MELA-AU 21 35255276 35255276 single base substitution C T intron_variant MELA-AU 21 35255528 35255528 single base substitution C T intron_variant MELA-AU 21 35255750 35255750 single base substitution C T intron_variant MELA-AU 21 35256443 35256443 single base substitution G A intron_variant MELA-AU 21 35257144 35257144 single base substitution G A intron_variant MELA-AU 21 35257160 35257160 single base substitution C T intron_variant MELA-AU 21 35257516 35257516 single base substitution C T intron_variant MELA-AU 21 35257629 35257629 single base substitution G A intron_variant MELA-AU 21 35257878 35257878 single base substitution C T intron_variant MELA-AU 21 35258031 35258031 single base substitution G A intron_variant MELA-AU 21 35258158 35258158 single base substitution C T intron_variant MELA-AU 21 35258681 35258681 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35258681 35258681 single base substitution C T downstream_gene_variant MELA-AU 21 35258681 35258681 single base substitution C T missense_variant S1584F 4751C>T MELA-AU 21 35258681 35258681 single base substitution C T missense_variant S1640F 4919C>T MELA-AU 21 35258681 35258681 single base substitution C T missense_variant S1645F 4934C>T MELA-AU 21 35258789 35258789 single base substitution T A downstream_gene_variant MELA-AU 21 35258789 35258789 single base substitution T A intron_variant MELA-AU 21 35258869 35258869 single base substitution C T downstream_gene_variant MELA-AU 21 35258869 35258869 single base substitution C T intron_variant MELA-AU 21 35259005 35259005 single base substitution C T downstream_gene_variant MELA-AU 21 35259005 35259005 single base substitution C T intron_variant MELA-AU 21 35259097 35259097 single base substitution G A downstream_gene_variant MELA-AU 21 35259097 35259097 single base substitution G A intron_variant MELA-AU 21 35259283 35259283 single base substitution C T downstream_gene_variant MELA-AU 21 35259283 35259283 single base substitution C T intron_variant MELA-AU 21 35259289 35259289 single base substitution C T downstream_gene_variant MELA-AU 21 35259289 35259289 single base substitution C T intron_variant MELA-AU 21 35259940 35259940 single base substitution C T downstream_gene_variant MELA-AU 21 35259940 35259940 single base substitution C T intron_variant MELA-AU 21 35260156 35260156 single base substitution C T downstream_gene_variant MELA-AU 21 35260156 35260156 single base substitution C T intron_variant MELA-AU 21 35260240 35260240 single base substitution G A downstream_gene_variant MELA-AU 21 35260240 35260240 single base substitution G A intron_variant MELA-AU 21 35260246 35260246 single base substitution G A downstream_gene_variant MELA-AU 21 35260246 35260246 single base substitution G A intron_variant MELA-AU 21 35260631 35260631 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35260631 35260631 single base substitution G A downstream_gene_variant MELA-AU 21 35260633 35260633 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35260633 35260633 single base substitution G A downstream_gene_variant MELA-AU 21 35260752 35260752 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35260752 35260752 single base substitution G A downstream_gene_variant MELA-AU 21 35260895 35260895 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35260895 35260895 single base substitution G A downstream_gene_variant MELA-AU 21 35261357 35261357 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35261357 35261357 single base substitution C T downstream_gene_variant MELA-AU 21 35261482 35261482 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35261482 35261482 single base substitution C T downstream_gene_variant MELA-AU 21 35261561 35261561 single base substitution T C 3_prime_UTR_variant MELA-AU 21 35261561 35261561 single base substitution T C downstream_gene_variant MELA-AU 21 35261576 35261576 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35261576 35261576 single base substitution C T downstream_gene_variant MELA-AU 21 35261586 35261587 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 21 35261586 35261587 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 21 35261631 35261631 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35261631 35261631 single base substitution G A downstream_gene_variant MELA-AU 21 35261636 35261636 single base substitution T C 3_prime_UTR_variant MELA-AU 21 35261636 35261636 single base substitution T C downstream_gene_variant MELA-AU 21 35261719 35261719 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35261719 35261719 single base substitution G A downstream_gene_variant MELA-AU 21 35261755 35261755 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35261755 35261755 single base substitution C T downstream_gene_variant MELA-AU 21 35261838 35261838 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35261838 35261838 single base substitution C T downstream_gene_variant MELA-AU 21 35261907 35261907 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35261907 35261907 single base substitution G A downstream_gene_variant MELA-AU 21 35262115 35262115 single base substitution A G 3_prime_UTR_variant MELA-AU 21 35262115 35262115 single base substitution A G downstream_gene_variant MELA-AU 21 35262393 35262393 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35262393 35262393 single base substitution C T downstream_gene_variant MELA-AU 21 35262511 35262511 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35262511 35262511 single base substitution C T downstream_gene_variant MELA-AU 21 35262723 35262723 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35262723 35262723 single base substitution C T downstream_gene_variant MELA-AU 21 35262811 35262811 single base substitution T C 3_prime_UTR_variant MELA-AU 21 35262811 35262811 single base substitution T C downstream_gene_variant MELA-AU 21 35262928 35262928 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35262928 35262928 single base substitution G A downstream_gene_variant MELA-AU 21 35263109 35263109 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35263109 35263109 single base substitution C T downstream_gene_variant MELA-AU 21 35263289 35263289 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35263289 35263289 single base substitution C T downstream_gene_variant MELA-AU 21 35263521 35263521 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35263521 35263521 single base substitution G A downstream_gene_variant MELA-AU 21 35263522 35263522 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35263522 35263522 single base substitution G A downstream_gene_variant MELA-AU 21 35263723 35263723 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35263723 35263723 single base substitution G A downstream_gene_variant MELA-AU 21 35263849 35263850 multiple base substitution (>=2bp and <=200bp) GG AT 3_prime_UTR_variant MELA-AU 21 35263849 35263850 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 21 35263871 35263871 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35263871 35263871 single base substitution G A downstream_gene_variant MELA-AU 21 35264228 35264228 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35264228 35264228 single base substitution C T downstream_gene_variant MELA-AU 21 35264480 35264480 single base substitution T G 3_prime_UTR_variant MELA-AU 21 35264480 35264480 single base substitution T G downstream_gene_variant MELA-AU 21 35264689 35264689 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35264689 35264689 single base substitution G A downstream_gene_variant MELA-AU 21 35264792 35264792 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35264792 35264792 single base substitution C T downstream_gene_variant MELA-AU 21 35265053 35265053 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35265053 35265053 single base substitution G A downstream_gene_variant MELA-AU 21 35265141 35265141 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35265141 35265141 single base substitution C T downstream_gene_variant MELA-AU 21 35265147 35265147 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35265147 35265147 single base substitution C T downstream_gene_variant MELA-AU 21 35265174 35265174 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35265174 35265174 single base substitution C T downstream_gene_variant MELA-AU 21 35265330 35265330 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35265330 35265330 single base substitution C T downstream_gene_variant MELA-AU 21 35265331 35265331 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35265331 35265331 single base substitution C T downstream_gene_variant MELA-AU 21 35265642 35265642 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35265642 35265642 single base substitution C T downstream_gene_variant MELA-AU 21 35265715 35265715 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35265715 35265715 single base substitution G A downstream_gene_variant MELA-AU 21 35265910 35265910 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35265910 35265910 single base substitution G A downstream_gene_variant MELA-AU 21 35266102 35266102 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35266102 35266102 single base substitution C T downstream_gene_variant MELA-AU 21 35266115 35266115 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35266115 35266115 single base substitution G A downstream_gene_variant MELA-AU 21 35266884 35266884 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35266908 35266908 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35267251 35267251 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35267505 35267505 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35267700 35267700 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35267821 35267821 single base substitution G T 3_prime_UTR_variant MELA-AU 21 35268063 35268063 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35268098 35268098 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35268408 35268408 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35268534 35268534 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35268696 35268696 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35268802 35268802 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35268840 35268840 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35268917 35268917 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35269291 35269292 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 21 35270220 35270220 single base substitution T A 3_prime_UTR_variant MELA-AU 21 35270228 35270228 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35270273 35270273 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35270570 35270570 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35270720 35270720 single base substitution C T 3_prime_UTR_variant MELA-AU 21 35271865 35271865 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35271971 35271971 single base substitution G A 3_prime_UTR_variant MELA-AU 21 35272976 35272976 single base substitution T C downstream_gene_variant MELA-AU 21 35275174 35275174 single base substitution G A downstream_gene_variant MELA-AU 21 35275689 35275689 single base substitution G A downstream_gene_variant MELA-AU 21 35275703 35275704 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 35275959 35275959 single base substitution G A downstream_gene_variant MELA-AU 21 35276239 35276240 multiple base substitution (>=2bp and <=200bp) CT TC downstream_gene_variant MELA-AU 21 35276277 35276277 single base substitution A G downstream_gene_variant MELA-AU 21 35276455 35276455 single base substitution G A downstream_gene_variant MELA-AU 21 35276512 35276512 single base substitution G A downstream_gene_variant MELA-AU 21 35276632 35276632 single base substitution G A downstream_gene_variant MELA-AU 21 35276762 35276763 multiple base substitution (>=2bp and <=200bp) TA AG downstream_gene_variant MELA-AU 21 35277021 35277021 single base substitution G A downstream_gene_variant MELA-AU 21 35277097 35277097 single base substitution T A downstream_gene_variant ORCA-IN 21 35025303 35025303 single base substitution C A intron_variant ORCA-IN 21 35036083 35036083 single base substitution T A intron_variant ORCA-IN 21 35045290 35045290 single base substitution C T intron_variant ORCA-IN 21 35053004 35053004 single base substitution A G intron_variant ORCA-IN 21 35070108 35070108 single base substitution C G intron_variant ORCA-IN 21 35083125 35083125 deletion of <=200bp C - intron_variant ORCA-IN 21 35087958 35087958 single base substitution G A intron_variant ORCA-IN 21 35087958 35087958 single base substitution G A upstream_gene_variant ORCA-IN 21 35088359 35088359 single base substitution G C intron_variant ORCA-IN 21 35088359 35088359 single base substitution G C upstream_gene_variant ORCA-IN 21 35089910 35089910 single base substitution G C intron_variant ORCA-IN 21 35089910 35089910 single base substitution G C upstream_gene_variant ORCA-IN 21 35093922 35093922 single base substitution G A intron_variant ORCA-IN 21 35112556 35112556 single base substitution G C downstream_gene_variant ORCA-IN 21 35112556 35112556 single base substitution G C intron_variant ORCA-IN 21 35118769 35118769 single base substitution G A intron_variant ORCA-IN 21 35145223 35145223 single base substitution A G downstream_gene_variant ORCA-IN 21 35145223 35145223 single base substitution A G intron_variant ORCA-IN 21 35145223 35145223 single base substitution A G upstream_gene_variant ORCA-IN 21 35183352 35183352 single base substitution C A 3_prime_UTR_variant ORCA-IN 21 35183352 35183352 single base substitution C A missense_variant A32E 95C>A ORCA-IN 21 35183352 35183352 single base substitution C A missense_variant A756E 2267C>A ORCA-IN 21 35183352 35183352 single base substitution C A missense_variant A793E 2378C>A ORCA-IN 21 35183352 35183352 single base substitution C A missense_variant A798E 2393C>A ORCA-IN 21 35183352 35183352 single base substitution C A upstream_gene_variant ORCA-IN 21 35235149 35235149 single base substitution T C intron_variant ORCA-IN 21 35246954 35246954 insertion of <=200bp - TT intron_variant ORCA-IN 21 35246954 35246954 insertion of <=200bp - TT upstream_gene_variant ORCA-IN 21 35258634 35258634 single base substitution C A 3_prime_UTR_variant ORCA-IN 21 35258634 35258634 single base substitution C A stop_gained C1568* 4704C>A ORCA-IN 21 35258634 35258634 single base substitution C A stop_gained C1624* 4872C>A ORCA-IN 21 35258634 35258634 single base substitution C A stop_gained C1629* 4887C>A ORCA-IN 21 35258634 35258634 single base substitution C A stop_gained C165* 495C>A ORCA-IN 21 35258634 35258634 single base substitution C A stop_gained C308* 924C>A OV-AU 21 35025363 35025363 single base substitution C A intron_variant OV-AU 21 35025962 35025962 single base substitution G A intron_variant OV-AU 21 35025964 35025964 single base substitution G A intron_variant OV-AU 21 35035811 35035811 single base substitution T G intron_variant OV-AU 21 35037166 35037166 single base substitution T C intron_variant OV-AU 21 35051425 35051425 single base substitution C T intron_variant OV-AU 21 35065713 35065713 single base substitution G A intron_variant OV-AU 21 35065902 35065902 single base substitution T C intron_variant OV-AU 21 35067405 35067405 single base substitution C T intron_variant OV-AU 21 35068290 35068290 single base substitution C T intron_variant OV-AU 21 35089590 35089590 single base substitution C T intron_variant OV-AU 21 35089590 35089590 single base substitution C T upstream_gene_variant OV-AU 21 35091607 35091607 single base substitution G A intron_variant OV-AU 21 35098325 35098325 single base substitution G A downstream_gene_variant OV-AU 21 35098325 35098325 single base substitution G A intron_variant OV-AU 21 35098399 35098399 single base substitution A C downstream_gene_variant OV-AU 21 35098399 35098399 single base substitution A C intron_variant OV-AU 21 35100660 35100660 single base substitution C G intron_variant OV-AU 21 35107716 35107716 single base substitution G C 3_prime_UTR_variant OV-AU 21 35107716 35107716 single base substitution G C downstream_gene_variant OV-AU 21 35107716 35107716 single base substitution G C intron_variant OV-AU 21 35110897 35110897 single base substitution G T downstream_gene_variant OV-AU 21 35110897 35110897 single base substitution G T intron_variant OV-AU 21 35110898 35110898 single base substitution G T downstream_gene_variant OV-AU 21 35110898 35110898 single base substitution G T intron_variant OV-AU 21 35111514 35111514 single base substitution G A downstream_gene_variant OV-AU 21 35111514 35111514 single base substitution G A intron_variant OV-AU 21 35116943 35116943 single base substitution A G intron_variant OV-AU 21 35117583 35117583 single base substitution G T intron_variant OV-AU 21 35119071 35119071 single base substitution C T intron_variant OV-AU 21 35119194 35119194 single base substitution C G intron_variant OV-AU 21 35122057 35122057 single base substitution G C intron_variant OV-AU 21 35122057 35122057 single base substitution G C upstream_gene_variant OV-AU 21 35123841 35123841 single base substitution A G intron_variant OV-AU 21 35123841 35123841 single base substitution A G upstream_gene_variant OV-AU 21 35127494 35127494 single base substitution G A intron_variant OV-AU 21 35132681 35132681 single base substitution A G intron_variant OV-AU 21 35133345 35133345 single base substitution T C intron_variant OV-AU 21 35133654 35133654 single base substitution G A intron_variant OV-AU 21 35135786 35135786 single base substitution G C intron_variant OV-AU 21 35144700 35144700 single base substitution A G downstream_gene_variant OV-AU 21 35144700 35144700 single base substitution A G intron_variant OV-AU 21 35144700 35144700 single base substitution A G upstream_gene_variant OV-AU 21 35146264 35146264 single base substitution G A downstream_gene_variant OV-AU 21 35146264 35146264 single base substitution G A intron_variant OV-AU 21 35146264 35146264 single base substitution G A upstream_gene_variant OV-AU 21 35156773 35156773 single base substitution C A intron_variant OV-AU 21 35159770 35159770 single base substitution C A intron_variant OV-AU 21 35160300 35160300 single base substitution T C intron_variant OV-AU 21 35162217 35162217 single base substitution C G intron_variant OV-AU 21 35165279 35165279 single base substitution A T intron_variant OV-AU 21 35165279 35165279 single base substitution A T upstream_gene_variant OV-AU 21 35166057 35166057 single base substitution G A intron_variant OV-AU 21 35166057 35166057 single base substitution G A upstream_gene_variant OV-AU 21 35172187 35172187 single base substitution C T exon_variant OV-AU 21 35172187 35172187 single base substitution C T missense_variant S716F 2147C>T OV-AU 21 35172187 35172187 single base substitution C T missense_variant S753F 2258C>T OV-AU 21 35172187 35172187 single base substitution C T upstream_gene_variant OV-AU 21 35172296 35172296 single base substitution C A intron_variant OV-AU 21 35172305 35172305 single base substitution C T intron_variant OV-AU 21 35172353 35172353 single base substitution C G intron_variant OV-AU 21 35182428 35182428 single base substitution G C intron_variant OV-AU 21 35182428 35182428 single base substitution G C upstream_gene_variant OV-AU 21 35187290 35187290 single base substitution A C downstream_gene_variant OV-AU 21 35187290 35187290 single base substitution A C intron_variant OV-AU 21 35187290 35187290 single base substitution A C upstream_gene_variant OV-AU 21 35192922 35192922 single base substitution A G downstream_gene_variant OV-AU 21 35192922 35192922 single base substitution A G intron_variant OV-AU 21 35201120 35201120 single base substitution G A intron_variant OV-AU 21 35201120 35201120 single base substitution G A upstream_gene_variant OV-AU 21 35201956 35201956 single base substitution C T 3_prime_UTR_variant OV-AU 21 35201956 35201956 single base substitution C T downstream_gene_variant OV-AU 21 35201956 35201956 single base substitution C T exon_variant OV-AU 21 35201956 35201956 single base substitution C T synonymous_variant T1010T 3030C>T OV-AU 21 35201956 35201956 single base substitution C T synonymous_variant T1015T 3045C>T OV-AU 21 35201956 35201956 single base substitution C T synonymous_variant T1044T 3132C>T OV-AU 21 35201956 35201956 single base substitution C T synonymous_variant T1081T 3243C>T OV-AU 21 35201956 35201956 single base substitution C T synonymous_variant T1086T 3258C>T OV-AU 21 35207030 35207030 single base substitution A T downstream_gene_variant OV-AU 21 35207030 35207030 single base substitution A T intron_variant OV-AU 21 35227519 35227519 single base substitution C T intron_variant OV-AU 21 35227519 35227519 single base substitution C T upstream_gene_variant OV-AU 21 35230133 35230133 single base substitution C A downstream_gene_variant OV-AU 21 35230133 35230133 single base substitution C A intron_variant OV-AU 21 35230133 35230133 single base substitution C A upstream_gene_variant OV-AU 21 35235571 35235571 single base substitution A G intron_variant OV-AU 21 35248858 35248858 single base substitution G C intron_variant OV-AU 21 35251885 35251885 single base substitution C G intron_variant OV-AU 21 35252168 35252168 single base substitution G C intron_variant OV-AU 21 35253845 35253845 single base substitution C A intron_variant OV-AU 21 35260601 35260601 single base substitution G A 3_prime_UTR_variant OV-AU 21 35260601 35260601 single base substitution G A downstream_gene_variant OV-AU 21 35260601 35260601 single base substitution G A synonymous_variant P1660P 4980G>A OV-AU 21 35260601 35260601 single base substitution G A synonymous_variant P1716P 5148G>A OV-AU 21 35260601 35260601 single base substitution G A synonymous_variant P1721P 5163G>A OV-AU 21 35268400 35268400 single base substitution C T 3_prime_UTR_variant OV-AU 21 35276409 35276409 single base substitution A C downstream_gene_variant PACA-AU 21 35019365 35019365 single base substitution G A intron_variant PACA-AU 21 35024873 35024873 single base substitution G A intron_variant PACA-AU 21 35025855 35025855 single base substitution G A intron_variant PACA-AU 21 35033083 35033083 single base substitution C A intron_variant PACA-AU 21 35049319 35049319 single base substitution C T intron_variant PACA-AU 21 35049958 35049958 single base substitution C A intron_variant PACA-AU 21 35052464 35052464 single base substitution C G intron_variant PACA-AU 21 35056843 35056843 single base substitution T A intron_variant PACA-AU 21 35067029 35067029 single base substitution C G intron_variant PACA-AU 21 35069895 35069895 single base substitution T A intron_variant PACA-AU 21 35074935 35074935 single base substitution C T intron_variant PACA-AU 21 35077596 35077596 single base substitution C T intron_variant PACA-AU 21 35079071 35079071 single base substitution T A intron_variant PACA-AU 21 35082960 35082960 single base substitution G T intron_variant PACA-AU 21 35084727 35084727 single base substitution C T intron_variant PACA-AU 21 35085426 35085426 single base substitution G A intron_variant PACA-AU 21 35088018 35088018 single base substitution C G intron_variant PACA-AU 21 35088018 35088018 single base substitution C G upstream_gene_variant PACA-AU 21 35093857 35093857 single base substitution C G intron_variant PACA-AU 21 35100601 35100601 single base substitution G A intron_variant PACA-AU 21 35101771 35101771 single base substitution A T intron_variant PACA-AU 21 35104930 35104930 single base substitution A C intron_variant PACA-AU 21 35104930 35104930 single base substitution A C upstream_gene_variant PACA-AU 21 35116186 35116186 single base substitution G A intron_variant PACA-AU 21 35121233 35121233 single base substitution C T intron_variant PACA-AU 21 35132420 35132420 single base substitution A G intron_variant PACA-AU 21 35137207 35137207 single base substitution G A intron_variant PACA-AU 21 35140677 35140677 single base substitution C A intron_variant PACA-AU 21 35144654 35144654 single base substitution G A downstream_gene_variant PACA-AU 21 35144654 35144654 single base substitution G A intron_variant PACA-AU 21 35144654 35144654 single base substitution G A upstream_gene_variant PACA-AU 21 35159419 35159419 single base substitution G A intron_variant PACA-AU 21 35168837 35168837 single base substitution C T intron_variant PACA-AU 21 35168837 35168837 single base substitution C T upstream_gene_variant PACA-AU 21 35182183 35182183 single base substitution C T intron_variant PACA-AU 21 35182183 35182183 single base substitution C T upstream_gene_variant PACA-AU 21 35189838 35189838 single base substitution G A downstream_gene_variant PACA-AU 21 35189838 35189838 single base substitution G A intron_variant PACA-AU 21 35189838 35189838 single base substitution G A missense_variant G1006S 3016G>A PACA-AU 21 35189838 35189838 single base substitution G A missense_variant G245S 733G>A PACA-AU 21 35189838 35189838 single base substitution G A upstream_gene_variant PACA-AU 21 35190532 35190532 single base substitution G A downstream_gene_variant PACA-AU 21 35190532 35190532 single base substitution G A exon_variant PACA-AU 21 35190532 35190532 single base substitution G A intron_variant PACA-AU 21 35190532 35190532 single base substitution G A upstream_gene_variant PACA-AU 21 35190734 35190734 single base substitution C G downstream_gene_variant PACA-AU 21 35190734 35190734 single base substitution C G exon_variant PACA-AU 21 35190734 35190734 single base substitution C G intron_variant PACA-AU 21 35190734 35190734 single base substitution C G missense_variant S922C 2765C>G PACA-AU 21 35190734 35190734 single base substitution C G missense_variant S959C 2876C>G PACA-AU 21 35190734 35190734 single base substitution C G missense_variant S964C 2891C>G PACA-AU 21 35190734 35190734 single base substitution C G upstream_gene_variant PACA-AU 21 35194510 35194510 single base substitution G A downstream_gene_variant PACA-AU 21 35194510 35194510 single base substitution G A intron_variant PACA-AU 21 35199706 35199706 insertion of <=200bp - AAAAT intron_variant PACA-AU 21 35199706 35199706 insertion of <=200bp - AAAAT upstream_gene_variant PACA-AU 21 35201637 35201637 single base substitution G C downstream_gene_variant PACA-AU 21 35201637 35201637 single base substitution G C exon_variant PACA-AU 21 35201637 35201637 single base substitution G C intron_variant PACA-AU 21 35201638 35201638 single base substitution G T downstream_gene_variant PACA-AU 21 35201638 35201638 single base substitution G T exon_variant PACA-AU 21 35201638 35201638 single base substitution G T intron_variant PACA-AU 21 35206834 35206834 single base substitution A T downstream_gene_variant PACA-AU 21 35206834 35206834 single base substitution A T intron_variant PACA-AU 21 35210826 35210826 single base substitution G C downstream_gene_variant PACA-AU 21 35210826 35210826 single base substitution G C intron_variant PACA-AU 21 35212509 35212510 deletion of <=200bp AT - downstream_gene_variant PACA-AU 21 35212509 35212510 deletion of <=200bp AT - intron_variant PACA-AU 21 35212913 35212913 single base substitution G A downstream_gene_variant PACA-AU 21 35212913 35212913 single base substitution G A intron_variant PACA-AU 21 35215288 35215288 single base substitution G A downstream_gene_variant PACA-AU 21 35215288 35215288 single base substitution G A intron_variant PACA-AU 21 35219215 35219215 single base substitution C T intron_variant PACA-AU 21 35219272 35219272 single base substitution C A intron_variant PACA-AU 21 35219276 35219276 single base substitution C T intron_variant PACA-AU 21 35221696 35221696 single base substitution C A intron_variant PACA-AU 21 35223928 35223928 single base substitution C T intron_variant PACA-AU 21 35224776 35224776 single base substitution G A intron_variant PACA-AU 21 35224806 35224806 single base substitution G A intron_variant PACA-AU 21 35224853 35224853 single base substitution G A intron_variant PACA-AU 21 35224890 35224890 single base substitution G A intron_variant PACA-AU 21 35224959 35224959 single base substitution G C intron_variant PACA-AU 21 35225058 35225058 single base substitution G C intron_variant PACA-AU 21 35225080 35225080 single base substitution G C intron_variant PACA-AU 21 35225118 35225118 single base substitution C T intron_variant PACA-AU 21 35225294 35225294 single base substitution C T intron_variant PACA-AU 21 35225433 35225433 single base substitution C T intron_variant PACA-AU 21 35225832 35225832 single base substitution G A intron_variant PACA-AU 21 35225858 35225858 single base substitution G A intron_variant PACA-AU 21 35230013 35230013 single base substitution T C downstream_gene_variant PACA-AU 21 35230013 35230013 single base substitution T C intron_variant PACA-AU 21 35230013 35230013 single base substitution T C upstream_gene_variant PACA-AU 21 35237536 35237536 single base substitution G A 3_prime_UTR_variant PACA-AU 21 35237536 35237536 single base substitution G A synonymous_variant P1319P 3957G>A PACA-AU 21 35237536 35237536 single base substitution G A synonymous_variant P1324P 3972G>A PACA-AU 21 35237536 35237536 single base substitution G A synonymous_variant P59P 177G>A PACA-AU 21 35241088 35241088 single base substitution A G intron_variant PACA-AU 21 35244719 35244719 single base substitution A T intron_variant PACA-AU 21 35244719 35244719 single base substitution A T upstream_gene_variant PACA-AU 21 35245531 35245531 single base substitution T C intron_variant PACA-AU 21 35245531 35245531 single base substitution T C upstream_gene_variant PACA-AU 21 35248443 35248443 single base substitution T C intron_variant PACA-AU 21 35250187 35250187 single base substitution A T intron_variant PACA-AU 21 35250695 35250695 single base substitution C T intron_variant PACA-AU 21 35251609 35251609 single base substitution C T intron_variant PACA-AU 21 35254584 35254584 single base substitution C T 3_prime_UTR_variant PACA-AU 21 35254584 35254584 single base substitution C T intron_variant PACA-AU 21 35254584 35254584 single base substitution C T missense_variant P1399L 4196C>T PACA-AU 21 35254584 35254584 single base substitution C T missense_variant P139L 416C>T PACA-AU 21 35254584 35254584 single base substitution C T missense_variant P1455L 4364C>T PACA-AU 21 35254584 35254584 single base substitution C T missense_variant P1460L 4379C>T PACA-AU 21 35254585 35254585 single base substitution G A 3_prime_UTR_variant PACA-AU 21 35254585 35254585 single base substitution G A intron_variant PACA-AU 21 35254585 35254585 single base substitution G A synonymous_variant P1399P 4197G>A PACA-AU 21 35254585 35254585 single base substitution G A synonymous_variant P139P 417G>A PACA-AU 21 35254585 35254585 single base substitution G A synonymous_variant P1455P 4365G>A PACA-AU 21 35254585 35254585 single base substitution G A synonymous_variant P1460P 4380G>A PACA-AU 21 35255734 35255734 single base substitution C T intron_variant PACA-AU 21 35256452 35256452 single base substitution C T intron_variant PACA-AU 21 35258413 35258413 single base substitution G T intron_variant PACA-AU 21 35258528 35258528 single base substitution A T intron_variant PACA-AU 21 35266488 35266488 single base substitution A C 3_prime_UTR_variant PACA-AU 21 35266488 35266488 single base substitution A C downstream_gene_variant PACA-AU 21 35271029 35271029 single base substitution C A 3_prime_UTR_variant PACA-CA 21 35009781 35009781 single base substitution C A upstream_gene_variant PACA-CA 21 35017782 35017782 single base substitution A G intron_variant PACA-CA 21 35019729 35019730 deletion of <=200bp TA - intron_variant PACA-CA 21 35021326 35021326 single base substitution G C intron_variant PACA-CA 21 35021750 35021750 single base substitution G A intron_variant PACA-CA 21 35022181 35022181 single base substitution G A intron_variant PACA-CA 21 35024656 35024656 single base substitution T C intron_variant PACA-CA 21 35028174 35028174 deletion of <=200bp A - intron_variant PACA-CA 21 35029308 35029308 single base substitution T C intron_variant PACA-CA 21 35030877 35030877 single base substitution G A intron_variant PACA-CA 21 35042799 35042799 single base substitution T C intron_variant PACA-CA 21 35042920 35042928 deletion of <=200bp CATTGCAGC - intron_variant PACA-CA 21 35043113 35043113 single base substitution A G intron_variant PACA-CA 21 35046487 35046487 single base substitution C T intron_variant PACA-CA 21 35047456 35047456 deletion of <=200bp T - intron_variant PACA-CA 21 35047500 35047500 single base substitution C T intron_variant PACA-CA 21 35050743 35050743 single base substitution G A intron_variant PACA-CA 21 35051360 35051360 single base substitution C A intron_variant PACA-CA 21 35053782 35053782 single base substitution A T intron_variant PACA-CA 21 35064015 35064015 single base substitution C T intron_variant PACA-CA 21 35065657 35065657 insertion of <=200bp - T intron_variant PACA-CA 21 35070133 35070133 single base substitution G C intron_variant PACA-CA 21 35072101 35072101 single base substitution C T intron_variant PACA-CA 21 35074905 35074905 single base substitution A G intron_variant PACA-CA 21 35077050 35077050 single base substitution G A intron_variant PACA-CA 21 35082673 35082673 single base substitution C A intron_variant PACA-CA 21 35084493 35084493 single base substitution A T intron_variant PACA-CA 21 35084619 35084619 single base substitution G A intron_variant PACA-CA 21 35085722 35085722 single base substitution T C intron_variant PACA-CA 21 35092067 35092067 single base substitution C A intron_variant PACA-CA 21 35092271 35092271 single base substitution A G intron_variant PACA-CA 21 35092804 35092804 single base substitution A C intron_variant PACA-CA 21 35093568 35093568 single base substitution C T exon_variant PACA-CA 21 35093568 35093568 single base substitution C T synonymous_variant F38F 114C>T PACA-CA 21 35095559 35095559 single base substitution C T downstream_gene_variant PACA-CA 21 35095559 35095559 single base substitution C T intron_variant PACA-CA 21 35098032 35098032 deletion of <=200bp T - downstream_gene_variant PACA-CA 21 35098032 35098032 deletion of <=200bp T - intron_variant PACA-CA 21 35103923 35103923 single base substitution A T intron_variant PACA-CA 21 35103923 35103923 single base substitution A T upstream_gene_variant PACA-CA 21 35105424 35105424 insertion of <=200bp - A intron_variant PACA-CA 21 35105424 35105424 insertion of <=200bp - A upstream_gene_variant PACA-CA 21 35114625 35114625 single base substitution G T intron_variant PACA-CA 21 35120075 35120082 deletion of <=200bp CAAATAAA - intron_variant PACA-CA 21 35121751 35121751 single base substitution C T intron_variant PACA-CA 21 35121751 35121751 single base substitution C T upstream_gene_variant PACA-CA 21 35122566 35122566 insertion of <=200bp - C frameshift_variant V118V? PACA-CA 21 35122566 35122566 insertion of <=200bp - C frameshift_variant V155V? PACA-CA 21 35122566 35122566 insertion of <=200bp - C intron_variant PACA-CA 21 35122566 35122566 insertion of <=200bp - C upstream_gene_variant PACA-CA 21 35128112 35128112 single base substitution C G intron_variant PACA-CA 21 35130577 35130577 single base substitution G A intron_variant PACA-CA 21 35141177 35141177 single base substitution G A intron_variant PACA-CA 21 35146600 35146600 single base substitution C T downstream_gene_variant PACA-CA 21 35146600 35146600 single base substitution C T intron_variant PACA-CA 21 35146600 35146600 single base substitution C T upstream_gene_variant PACA-CA 21 35147994 35147994 single base substitution A C downstream_gene_variant PACA-CA 21 35147994 35147994 single base substitution A C intron_variant PACA-CA 21 35151280 35151280 single base substitution C A downstream_gene_variant PACA-CA 21 35151280 35151280 single base substitution C A intron_variant PACA-CA 21 35152229 35152229 single base substitution G A downstream_gene_variant PACA-CA 21 35152229 35152229 single base substitution G A intron_variant PACA-CA 21 35152585 35152585 single base substitution G C intron_variant PACA-CA 21 35156305 35156305 single base substitution T C intron_variant PACA-CA 21 35156933 35156933 single base substitution C T intron_variant PACA-CA 21 35160920 35160920 single base substitution A C intron_variant PACA-CA 21 35171856 35171856 single base substitution C T intron_variant PACA-CA 21 35171856 35171856 single base substitution C T upstream_gene_variant PACA-CA 21 35173600 35173600 single base substitution C T intron_variant PACA-CA 21 35173777 35173777 deletion of <=200bp T - intron_variant PACA-CA 21 35177528 35177528 single base substitution T C intron_variant PACA-CA 21 35177963 35177963 single base substitution G T intron_variant PACA-CA 21 35180511 35180511 single base substitution G C intron_variant PACA-CA 21 35180511 35180511 single base substitution G C upstream_gene_variant PACA-CA 21 35180736 35180736 single base substitution G C intron_variant PACA-CA 21 35180736 35180736 single base substitution G C upstream_gene_variant PACA-CA 21 35180967 35180967 single base substitution T C intron_variant PACA-CA 21 35180967 35180967 single base substitution T C upstream_gene_variant PACA-CA 21 35181480 35181480 single base substitution G C intron_variant PACA-CA 21 35181480 35181480 single base substitution G C upstream_gene_variant PACA-CA 21 35183415 35183415 single base substitution C G 3_prime_UTR_variant PACA-CA 21 35183415 35183415 single base substitution C G stop_gained S53* 158C>G PACA-CA 21 35183415 35183415 single base substitution C G stop_gained S777* 2330C>G PACA-CA 21 35183415 35183415 single base substitution C G stop_gained S814* 2441C>G PACA-CA 21 35183415 35183415 single base substitution C G stop_gained S819* 2456C>G PACA-CA 21 35183415 35183415 single base substitution C G upstream_gene_variant PACA-CA 21 35185110 35185110 single base substitution C T intron_variant PACA-CA 21 35190666 35190666 single base substitution C T downstream_gene_variant PACA-CA 21 35190666 35190666 single base substitution C T exon_variant PACA-CA 21 35190666 35190666 single base substitution C T intron_variant PACA-CA 21 35190666 35190666 single base substitution C T synonymous_variant T899T 2697C>T PACA-CA 21 35190666 35190666 single base substitution C T synonymous_variant T936T 2808C>T PACA-CA 21 35190666 35190666 single base substitution C T synonymous_variant T941T 2823C>T PACA-CA 21 35190666 35190666 single base substitution C T upstream_gene_variant PACA-CA 21 35195332 35195332 single base substitution C T intron_variant PACA-CA 21 35198036 35198036 insertion of <=200bp - T intron_variant PACA-CA 21 35198036 35198036 insertion of <=200bp - T upstream_gene_variant PACA-CA 21 35199705 35199705 insertion of <=200bp - AAAAT intron_variant PACA-CA 21 35199705 35199705 insertion of <=200bp - AAAAT upstream_gene_variant PACA-CA 21 35201080 35201080 single base substitution G A intron_variant PACA-CA 21 35201080 35201080 single base substitution G A upstream_gene_variant PACA-CA 21 35204111 35204111 single base substitution G T downstream_gene_variant PACA-CA 21 35204111 35204111 single base substitution G T intron_variant PACA-CA 21 35204372 35204386 deletion of <=200bp CGGGGCCCCTCTCCC - downstream_gene_variant PACA-CA 21 35204372 35204386 deletion of <=200bp CGGGGCCCCTCTCCC - intron_variant PACA-CA 21 35213856 35213856 single base substitution G A downstream_gene_variant PACA-CA 21 35213856 35213856 single base substitution G A intron_variant PACA-CA 21 35214172 35214172 single base substitution C T downstream_gene_variant PACA-CA 21 35214172 35214172 single base substitution C T intron_variant PACA-CA 21 35215859 35215859 single base substitution G T intron_variant PACA-CA 21 35216437 35216437 single base substitution G T intron_variant PACA-CA 21 35217230 35217230 single base substitution C G intron_variant PACA-CA 21 35217361 35217361 single base substitution C T intron_variant PACA-CA 21 35225248 35225248 single base substitution A C intron_variant PACA-CA 21 35228965 35228965 single base substitution C T intron_variant PACA-CA 21 35228965 35228965 single base substitution C T upstream_gene_variant PACA-CA 21 35231447 35231447 single base substitution G A downstream_gene_variant PACA-CA 21 35231447 35231447 single base substitution G A intron_variant PACA-CA 21 35234964 35234964 single base substitution C T intron_variant PACA-CA 21 35239157 35239157 single base substitution C T intron_variant PACA-CA 21 35240994 35240994 single base substitution G A intron_variant PACA-CA 21 35242322 35242322 single base substitution C T intron_variant PACA-CA 21 35243310 35243310 single base substitution C A intron_variant PACA-CA 21 35243310 35243310 single base substitution C A upstream_gene_variant PACA-CA 21 35243349 35243349 single base substitution A C intron_variant PACA-CA 21 35243349 35243349 single base substitution A C upstream_gene_variant PACA-CA 21 35244083 35244083 single base substitution T A intron_variant PACA-CA 21 35244083 35244083 single base substitution T A upstream_gene_variant PACA-CA 21 35249786 35249786 single base substitution G A intron_variant PACA-CA 21 35251950 35251950 single base substitution C T intron_variant PACA-CA 21 35252785 35252785 single base substitution G C intron_variant PACA-CA 21 35252983 35252983 single base substitution G A intron_variant PACA-CA 21 35253135 35253135 single base substitution C T intron_variant PACA-CA 21 35257842 35257842 single base substitution G A intron_variant PACA-CA 21 35258173 35258173 single base substitution C T intron_variant PACA-CA 21 35259311 35259311 single base substitution T G downstream_gene_variant PACA-CA 21 35259311 35259311 single base substitution T G intron_variant PACA-CA 21 35259401 35259401 single base substitution C T downstream_gene_variant PACA-CA 21 35259401 35259401 single base substitution C T intron_variant PACA-CA 21 35260479 35260479 single base substitution C T 3_prime_UTR_variant PACA-CA 21 35260479 35260479 single base substitution C T downstream_gene_variant PACA-CA 21 35260479 35260479 single base substitution C T missense_variant R1620C 4858C>T PACA-CA 21 35260479 35260479 single base substitution C T missense_variant R1676C 5026C>T PACA-CA 21 35260479 35260479 single base substitution C T missense_variant R1681C 5041C>T PACA-CA 21 35261228 35261228 single base substitution G A 3_prime_UTR_variant PACA-CA 21 35261228 35261228 single base substitution G A downstream_gene_variant PACA-CA 21 35267810 35267810 single base substitution C T 3_prime_UTR_variant PACA-CA 21 35273665 35273665 single base substitution T C downstream_gene_variant PACA-CA 21 35273850 35273850 single base substitution C A downstream_gene_variant PACA-CA 21 35273869 35273869 single base substitution G A downstream_gene_variant PACA-CA 21 35273938 35273938 single base substitution C G downstream_gene_variant PAEN-AU 21 35065676 35065676 single base substitution T G intron_variant PAEN-AU 21 35122034 35122034 single base substitution A G intron_variant PAEN-AU 21 35122034 35122034 single base substitution A G upstream_gene_variant PAEN-AU 21 35128521 35128521 single base substitution G A intron_variant PAEN-AU 21 35130023 35130023 single base substitution C A intron_variant PAEN-AU 21 35247908 35247908 single base substitution A C intron_variant PAEN-AU 21 35248459 35248459 single base substitution C T intron_variant PAEN-AU 21 35266929 35266929 single base substitution A C 3_prime_UTR_variant PAEN-IT 21 35015575 35015575 single base substitution G A intron_variant PAEN-IT 21 35205428 35205428 single base substitution T C downstream_gene_variant PAEN-IT 21 35205428 35205428 single base substitution T C intron_variant PAEN-IT 21 35213387 35213387 single base substitution G A downstream_gene_variant PAEN-IT 21 35213387 35213387 single base substitution G A intron_variant PAEN-IT 21 35217720 35217720 single base substitution C T intron_variant PAEN-IT 21 35270961 35270961 single base substitution C G 3_prime_UTR_variant PBCA-DE 21 35009990 35009990 single base substitution C T upstream_gene_variant PBCA-DE 21 35017597 35017597 single base substitution G T intron_variant PBCA-DE 21 35017598 35017598 single base substitution G T intron_variant PBCA-DE 21 35018441 35018441 single base substitution A T intron_variant PBCA-DE 21 35025435 35025435 single base substitution G A intron_variant PBCA-DE 21 35027323 35027323 insertion of <=200bp - T intron_variant PBCA-DE 21 35048675 35048675 single base substitution A G intron_variant PBCA-DE 21 35054570 35054570 single base substitution G A intron_variant PBCA-DE 21 35065662 35065662 single base substitution T G intron_variant PBCA-DE 21 35085691 35085691 deletion of <=200bp C - intron_variant PBCA-DE 21 35089493 35089493 insertion of <=200bp - T intron_variant PBCA-DE 21 35089493 35089493 insertion of <=200bp - T upstream_gene_variant PBCA-DE 21 35089986 35089986 single base substitution G A intron_variant PBCA-DE 21 35089986 35089986 single base substitution G A upstream_gene_variant PBCA-DE 21 35097621 35097621 single base substitution A G downstream_gene_variant PBCA-DE 21 35097621 35097621 single base substitution A G intron_variant PBCA-DE 21 35115990 35115995 deletion of <=200bp TCAATC - intron_variant PBCA-DE 21 35116069 35116069 single base substitution G A intron_variant PBCA-DE 21 35129853 35129853 deletion of <=200bp T - intron_variant PBCA-DE 21 35133653 35133653 single base substitution C A intron_variant PBCA-DE 21 35134968 35134968 single base substitution T G intron_variant PBCA-DE 21 35156125 35156125 single base substitution G T intron_variant PBCA-DE 21 35157300 35157300 single base substitution T C intron_variant PBCA-DE 21 35159490 35159490 single base substitution C A intron_variant PBCA-DE 21 35162917 35162917 single base substitution G A intron_variant PBCA-DE 21 35174382 35174382 deletion of <=200bp T - intron_variant PBCA-DE 21 35190542 35190542 single base substitution G C downstream_gene_variant PBCA-DE 21 35190542 35190542 single base substitution G C exon_variant PBCA-DE 21 35190542 35190542 single base substitution G C intron_variant PBCA-DE 21 35190542 35190542 single base substitution G C upstream_gene_variant PBCA-DE 21 35196736 35196736 single base substitution G T intron_variant PBCA-DE 21 35196736 35196736 single base substitution G T upstream_gene_variant PBCA-DE 21 35204832 35204832 single base substitution G A downstream_gene_variant PBCA-DE 21 35204832 35204832 single base substitution G A intron_variant PBCA-DE 21 35215492 35215492 single base substitution G A downstream_gene_variant PBCA-DE 21 35215492 35215492 single base substitution G A intron_variant PBCA-DE 21 35221315 35221315 single base substitution C T intron_variant PBCA-DE 21 35229090 35229090 single base substitution C T 3_prime_UTR_variant PBCA-DE 21 35229090 35229090 single base substitution C T exon_variant PBCA-DE 21 35229090 35229090 single base substitution C T stop_gained R1233* 3697C>T PBCA-DE 21 35229090 35229090 single base substitution C T stop_gained R1238* 3712C>T PBCA-DE 21 35229090 35229090 single base substitution C T upstream_gene_variant PBCA-DE 21 35248980 35248980 single base substitution G A intron_variant PBCA-DE 21 35260510 35260510 single base substitution C G 3_prime_UTR_variant PBCA-DE 21 35260510 35260510 single base substitution C G downstream_gene_variant PBCA-DE 21 35260510 35260510 single base substitution C G missense_variant S1630C 4889C>G PBCA-DE 21 35260510 35260510 single base substitution C G missense_variant S1686C 5057C>G PBCA-DE 21 35260510 35260510 single base substitution C G missense_variant S1691C 5072C>G PRAD-CA 21 35022706 35022706 single base substitution T A intron_variant PRAD-CA 21 35049892 35049892 single base substitution C T intron_variant PRAD-CA 21 35083125 35083125 single base substitution C T intron_variant PRAD-CA 21 35141322 35141322 single base substitution A G intron_variant PRAD-CA 21 35162473 35162473 single base substitution A G intron_variant PRAD-CA 21 35229772 35229772 single base substitution T G downstream_gene_variant PRAD-CA 21 35229772 35229772 single base substitution T G intron_variant PRAD-CA 21 35229772 35229772 single base substitution T G upstream_gene_variant PRAD-CA 21 35248414 35248414 single base substitution T C intron_variant PRAD-CA 21 35250352 35250352 single base substitution T G intron_variant PRAD-CA 21 35253138 35253138 single base substitution G A intron_variant PRAD-UK 21 35013777 35013777 single base substitution G A upstream_gene_variant PRAD-UK 21 35037569 35037569 deletion of <=200bp A - intron_variant PRAD-UK 21 35041491 35041491 single base substitution C T intron_variant PRAD-UK 21 35046658 35046658 single base substitution A G intron_variant PRAD-UK 21 35054681 35054681 single base substitution C T intron_variant PRAD-UK 21 35059151 35059151 single base substitution G A intron_variant PRAD-UK 21 35060110 35060110 insertion of <=200bp - TT intron_variant PRAD-UK 21 35068074 35068074 single base substitution A G intron_variant PRAD-UK 21 35073580 35073580 single base substitution A G intron_variant PRAD-UK 21 35077060 35077060 single base substitution G A intron_variant PRAD-UK 21 35080995 35080995 single base substitution T A intron_variant PRAD-UK 21 35084023 35084023 single base substitution T C intron_variant PRAD-UK 21 35089844 35089844 single base substitution G A intron_variant PRAD-UK 21 35089844 35089844 single base substitution G A upstream_gene_variant PRAD-UK 21 35093150 35093150 single base substitution A C intron_variant PRAD-UK 21 35093482 35093482 single base substitution G A splice_acceptor_variant PRAD-UK 21 35103220 35103220 single base substitution C T intron_variant PRAD-UK 21 35103220 35103220 single base substitution C T upstream_gene_variant PRAD-UK 21 35104633 35104633 single base substitution A C intron_variant PRAD-UK 21 35104633 35104633 single base substitution A C upstream_gene_variant PRAD-UK 21 35126277 35126277 single base substitution A T intron_variant PRAD-UK 21 35126277 35126277 single base substitution A T upstream_gene_variant PRAD-UK 21 35130334 35130334 single base substitution C G intron_variant PRAD-UK 21 35139497 35139500 deletion of <=200bp CATA - intron_variant PRAD-UK 21 35140471 35140471 single base substitution G A intron_variant PRAD-UK 21 35157877 35157877 single base substitution T G intron_variant PRAD-UK 21 35158612 35158612 single base substitution G A intron_variant PRAD-UK 21 35169364 35169364 insertion of <=200bp - ATAA intron_variant PRAD-UK 21 35169364 35169364 insertion of <=200bp - ATAA upstream_gene_variant PRAD-UK 21 35174103 35174103 insertion of <=200bp - T intron_variant PRAD-UK 21 35174106 35174106 insertion of <=200bp - T intron_variant PRAD-UK 21 35180629 35180629 single base substitution C A intron_variant PRAD-UK 21 35180629 35180629 single base substitution C A upstream_gene_variant PRAD-UK 21 35198271 35198271 single base substitution A G intron_variant PRAD-UK 21 35198271 35198271 single base substitution A G upstream_gene_variant PRAD-UK 21 35208612 35208612 single base substitution G T downstream_gene_variant PRAD-UK 21 35208612 35208612 single base substitution G T intron_variant PRAD-UK 21 35213264 35213264 single base substitution C T downstream_gene_variant PRAD-UK 21 35213264 35213264 single base substitution C T intron_variant PRAD-UK 21 35217211 35217211 single base substitution G A intron_variant PRAD-UK 21 35218591 35218591 single base substitution G A intron_variant PRAD-UK 21 35218898 35218898 single base substitution C T intron_variant PRAD-UK 21 35220979 35220979 single base substitution G A intron_variant PRAD-UK 21 35230126 35230126 single base substitution C T downstream_gene_variant PRAD-UK 21 35230126 35230126 single base substitution C T intron_variant PRAD-UK 21 35230126 35230126 single base substitution C T upstream_gene_variant PRAD-UK 21 35233041 35233041 single base substitution A G downstream_gene_variant PRAD-UK 21 35233041 35233041 single base substitution A G intron_variant PRAD-UK 21 35234912 35234912 single base substitution G T intron_variant PRAD-UK 21 35246399 35246399 single base substitution G A intron_variant PRAD-UK 21 35246399 35246399 single base substitution G A upstream_gene_variant PRAD-UK 21 35247293 35247293 single base substitution T C intron_variant PRAD-UK 21 35247293 35247293 single base substitution T C upstream_gene_variant PRAD-UK 21 35260891 35260891 single base substitution G C 3_prime_UTR_variant PRAD-UK 21 35260891 35260891 single base substitution G C downstream_gene_variant PRAD-UK 21 35261030 35261030 single base substitution C T 3_prime_UTR_variant PRAD-UK 21 35261030 35261030 single base substitution C T downstream_gene_variant PRAD-UK 21 35273339 35273339 single base substitution T A downstream_gene_variant PRAD-UK 21 35273506 35273506 single base substitution T G downstream_gene_variant PRAD-US 21 35122567 35122567 deletion of <=200bp C - frameshift_variant P119 PRAD-US 21 35122567 35122567 deletion of <=200bp C - frameshift_variant P156 PRAD-US 21 35122567 35122567 deletion of <=200bp C - intron_variant PRAD-US 21 35122567 35122567 deletion of <=200bp C - upstream_gene_variant PRAD-US 21 35195922 35195922 deletion of <=200bp T - exon_variant PRAD-US 21 35195922 35195922 deletion of <=200bp T - frameshift_variant F1008 PRAD-US 21 35195922 35195922 deletion of <=200bp T - frameshift_variant F1045 PRAD-US 21 35195922 35195922 deletion of <=200bp T - frameshift_variant F1050 PRAD-US 21 35195922 35195922 deletion of <=200bp T - intron_variant PRAD-US 21 35237515 35237515 single base substitution C T 3_prime_UTR_variant PRAD-US 21 35237515 35237515 single base substitution C T synonymous_variant D1312D 3936C>T PRAD-US 21 35237515 35237515 single base substitution C T synonymous_variant D1317D 3951C>T PRAD-US 21 35237515 35237515 single base substitution C T synonymous_variant D52D 156C>T READ-US 21 35140122 35140122 single base substitution G T exon_variant READ-US 21 35140122 35140122 single base substitution G T missense_variant K284N 852G>T READ-US 21 35140122 35140122 single base substitution G T missense_variant K307N 921G>T READ-US 21 35140122 35140122 single base substitution G T missense_variant K344N 1032G>T READ-US 21 35147109 35147109 single base substitution G T downstream_gene_variant READ-US 21 35147109 35147109 single base substitution G T exon_variant READ-US 21 35147109 35147109 single base substitution G T missense_variant R424I 1271G>T READ-US 21 35147109 35147109 single base substitution G T missense_variant R461I 1382G>T READ-US 21 35191628 35191628 single base substitution G T downstream_gene_variant READ-US 21 35191628 35191628 single base substitution G T splice_donor_variant READ-US 21 35237600 35237600 single base substitution A C 3_prime_UTR_variant READ-US 21 35237600 35237600 single base substitution A C missense_variant K1341Q 4021A>C READ-US 21 35237600 35237600 single base substitution A C missense_variant K1346Q 4036A>C READ-US 21 35237600 35237600 single base substitution A C missense_variant K81Q 241A>C READ-US 21 35258739 35258739 single base substitution C T 3_prime_UTR_variant READ-US 21 35258739 35258739 single base substitution C T downstream_gene_variant READ-US 21 35258739 35258739 single base substitution C T synonymous_variant F1603F 4809C>T READ-US 21 35258739 35258739 single base substitution C T synonymous_variant F1659F 4977C>T READ-US 21 35258739 35258739 single base substitution C T synonymous_variant F1664F 4992C>T RECA-EU 21 35011919 35011919 single base substitution A G upstream_gene_variant RECA-EU 21 35019185 35019185 single base substitution C T intron_variant RECA-EU 21 35043482 35043482 single base substitution A G intron_variant RECA-EU 21 35059957 35059957 single base substitution G A intron_variant RECA-EU 21 35059958 35059958 single base substitution A T intron_variant RECA-EU 21 35063686 35063686 single base substitution A G intron_variant RECA-EU 21 35068681 35068681 single base substitution C G intron_variant RECA-EU 21 35069460 35069460 single base substitution T A intron_variant RECA-EU 21 35070809 35070809 single base substitution T G intron_variant RECA-EU 21 35089952 35089952 single base substitution C G intron_variant RECA-EU 21 35089952 35089952 single base substitution C G upstream_gene_variant RECA-EU 21 35098554 35098554 single base substitution C T downstream_gene_variant RECA-EU 21 35098554 35098554 single base substitution C T intron_variant RECA-EU 21 35099074 35099074 single base substitution G T downstream_gene_variant RECA-EU 21 35099074 35099074 single base substitution G T intron_variant RECA-EU 21 35102887 35102887 single base substitution A T intron_variant RECA-EU 21 35102887 35102887 single base substitution A T upstream_gene_variant RECA-EU 21 35104874 35104874 single base substitution T C intron_variant RECA-EU 21 35104874 35104874 single base substitution T C upstream_gene_variant RECA-EU 21 35112186 35112186 single base substitution A T downstream_gene_variant RECA-EU 21 35112186 35112186 single base substitution A T intron_variant RECA-EU 21 35115998 35115998 single base substitution A G intron_variant RECA-EU 21 35127066 35127066 single base substitution C T intron_variant RECA-EU 21 35137958 35137958 single base substitution C T intron_variant RECA-EU 21 35139133 35139133 single base substitution C T intron_variant RECA-EU 21 35142966 35142966 single base substitution G T intron_variant RECA-EU 21 35142966 35142966 single base substitution G T upstream_gene_variant RECA-EU 21 35151360 35151360 single base substitution G A downstream_gene_variant RECA-EU 21 35151360 35151360 single base substitution G A intron_variant RECA-EU 21 35161092 35161092 single base substitution C G intron_variant RECA-EU 21 35171037 35171037 single base substitution A C intron_variant RECA-EU 21 35171037 35171037 single base substitution A C upstream_gene_variant RECA-EU 21 35173020 35173020 single base substitution A T intron_variant RECA-EU 21 35174614 35174614 single base substitution A T intron_variant RECA-EU 21 35177371 35177371 single base substitution C T intron_variant RECA-EU 21 35186199 35186199 single base substitution T A intron_variant RECA-EU 21 35186199 35186199 single base substitution T A upstream_gene_variant RECA-EU 21 35190926 35190926 single base substitution C T downstream_gene_variant RECA-EU 21 35190926 35190926 single base substitution C T intron_variant RECA-EU 21 35222588 35222588 single base substitution G A intron_variant RECA-EU 21 35233121 35233121 single base substitution G A downstream_gene_variant RECA-EU 21 35233121 35233121 single base substitution G A intron_variant RECA-EU 21 35239045 35239045 single base substitution T A intron_variant RECA-EU 21 35264305 35264305 single base substitution A G 3_prime_UTR_variant RECA-EU 21 35264305 35264305 single base substitution A G downstream_gene_variant RECA-EU 21 35273540 35273540 single base substitution A G downstream_gene_variant RECA-EU 21 35274911 35274911 single base substitution G A downstream_gene_variant RECA-EU 21 35276520 35276520 single base substitution C G downstream_gene_variant SKCA-BR 21 35011993 35011993 single base substitution G A upstream_gene_variant SKCA-BR 21 35014638 35014638 single base substitution G A upstream_gene_variant SKCA-BR 21 35014699 35014699 single base substitution C T upstream_gene_variant SKCA-BR 21 35015314 35015314 single base substitution A G intron_variant SKCA-BR 21 35018343 35018343 insertion of <=200bp - ACGTGAATTACATTGCAG intron_variant SKCA-BR 21 35021674 35021674 single base substitution G T intron_variant SKCA-BR 21 35027326 35027326 single base substitution T A intron_variant SKCA-BR 21 35027839 35027839 single base substitution A C intron_variant SKCA-BR 21 35027889 35027889 insertion of <=200bp - ATT intron_variant SKCA-BR 21 35033285 35033285 single base substitution C T intron_variant SKCA-BR 21 35033601 35033601 single base substitution C T intron_variant SKCA-BR 21 35035701 35035701 insertion of <=200bp - GC intron_variant SKCA-BR 21 35036684 35036684 single base substitution G A intron_variant SKCA-BR 21 35052640 35052640 single base substitution C T intron_variant SKCA-BR 21 35063086 35063120 deletion of <=200bp ATATATATACATATATATATATATATATATATATG - intron_variant SKCA-BR 21 35063092 35063120 deletion of <=200bp ATACATATATATATATATATATATATATG - intron_variant SKCA-BR 21 35063093 35063095 deletion of <=200bp TAC - intron_variant SKCA-BR 21 35063144 35063144 single base substitution G A intron_variant SKCA-BR 21 35065390 35065390 single base substitution C T intron_variant SKCA-BR 21 35067803 35067803 single base substitution A G intron_variant SKCA-BR 21 35072372 35072372 insertion of <=200bp - GT intron_variant SKCA-BR 21 35073256 35073258 deletion of <=200bp CTG - intron_variant SKCA-BR 21 35077415 35077416 deletion of <=200bp CA - intron_variant SKCA-BR 21 35079268 35079268 single base substitution T C intron_variant SKCA-BR 21 35079271 35079271 single base substitution A C intron_variant SKCA-BR 21 35083100 35083100 single base substitution G A intron_variant SKCA-BR 21 35083110 35083110 single base substitution G T intron_variant SKCA-BR 21 35088529 35088529 single base substitution C T intron_variant SKCA-BR 21 35088529 35088529 single base substitution C T upstream_gene_variant SKCA-BR 21 35094004 35094004 single base substitution C A intron_variant SKCA-BR 21 35097435 35097438 deletion of <=200bp TTTG - downstream_gene_variant SKCA-BR 21 35097435 35097438 deletion of <=200bp TTTG - intron_variant SKCA-BR 21 35098918 35098918 single base substitution C T downstream_gene_variant SKCA-BR 21 35098918 35098918 single base substitution C T intron_variant SKCA-BR 21 35102100 35102100 single base substitution A T intron_variant SKCA-BR 21 35103543 35103543 single base substitution C T intron_variant SKCA-BR 21 35103543 35103543 single base substitution C T upstream_gene_variant SKCA-BR 21 35105680 35105680 single base substitution C T intron_variant SKCA-BR 21 35105680 35105680 single base substitution C T upstream_gene_variant SKCA-BR 21 35105909 35105909 single base substitution C T intron_variant SKCA-BR 21 35105909 35105909 single base substitution C T upstream_gene_variant SKCA-BR 21 35107786 35107786 insertion of <=200bp - GT 3_prime_UTR_variant SKCA-BR 21 35107786 35107786 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 21 35107786 35107786 insertion of <=200bp - GT intron_variant SKCA-BR 21 35109369 35109369 single base substitution G C downstream_gene_variant SKCA-BR 21 35109369 35109369 single base substitution G C intron_variant SKCA-BR 21 35117763 35117763 single base substitution C T intron_variant SKCA-BR 21 35120670 35120670 single base substitution C T intron_variant SKCA-BR 21 35124085 35124085 single base substitution A T intron_variant SKCA-BR 21 35124085 35124085 single base substitution A T upstream_gene_variant SKCA-BR 21 35131510 35131510 single base substitution T G intron_variant SKCA-BR 21 35133203 35133203 single base substitution G A intron_variant SKCA-BR 21 35133433 35133433 single base substitution T G intron_variant SKCA-BR 21 35135090 35135090 single base substitution C T intron_variant SKCA-BR 21 35139292 35139292 single base substitution T G intron_variant SKCA-BR 21 35142310 35142310 single base substitution C T intron_variant SKCA-BR 21 35142310 35142310 single base substitution C T upstream_gene_variant SKCA-BR 21 35143568 35143568 single base substitution G A intron_variant SKCA-BR 21 35143568 35143568 single base substitution G A upstream_gene_variant SKCA-BR 21 35145323 35145323 single base substitution G T downstream_gene_variant SKCA-BR 21 35145323 35145323 single base substitution G T intron_variant SKCA-BR 21 35145323 35145323 single base substitution G T upstream_gene_variant SKCA-BR 21 35146524 35146524 single base substitution C T downstream_gene_variant SKCA-BR 21 35146524 35146524 single base substitution C T intron_variant SKCA-BR 21 35146524 35146524 single base substitution C T upstream_gene_variant SKCA-BR 21 35148690 35148690 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 21 35148690 35148690 insertion of <=200bp - TA intron_variant SKCA-BR 21 35153044 35153044 single base substitution G A intron_variant SKCA-BR 21 35153302 35153302 single base substitution C T intron_variant SKCA-BR 21 35155096 35155096 single base substitution G A intron_variant SKCA-BR 21 35156282 35156282 single base substitution G A intron_variant SKCA-BR 21 35160034 35160034 single base substitution G A intron_variant SKCA-BR 21 35180342 35180342 single base substitution T A intron_variant SKCA-BR 21 35180342 35180342 single base substitution T A upstream_gene_variant SKCA-BR 21 35182337 35182337 single base substitution T C intron_variant SKCA-BR 21 35182337 35182337 single base substitution T C upstream_gene_variant SKCA-BR 21 35184048 35184049 deletion of <=200bp GC - intron_variant SKCA-BR 21 35186558 35186558 single base substitution T G exon_variant SKCA-BR 21 35186558 35186558 single base substitution T G intron_variant SKCA-BR 21 35186558 35186558 single base substitution T G upstream_gene_variant SKCA-BR 21 35188852 35188852 single base substitution A G downstream_gene_variant SKCA-BR 21 35188852 35188852 single base substitution A G intron_variant SKCA-BR 21 35188852 35188852 single base substitution A G upstream_gene_variant SKCA-BR 21 35189731 35189731 single base substitution C T downstream_gene_variant SKCA-BR 21 35189731 35189731 single base substitution C T intron_variant SKCA-BR 21 35189731 35189731 single base substitution C T missense_variant P209L 626C>T SKCA-BR 21 35189731 35189731 single base substitution C T missense_variant P970L 2909C>T SKCA-BR 21 35189731 35189731 single base substitution C T upstream_gene_variant SKCA-BR 21 35196015 35196015 single base substitution A G intron_variant SKCA-BR 21 35203730 35203730 single base substitution G T downstream_gene_variant SKCA-BR 21 35203730 35203730 single base substitution G T intron_variant SKCA-BR 21 35205003 35205003 single base substitution T G downstream_gene_variant SKCA-BR 21 35205003 35205003 single base substitution T G intron_variant SKCA-BR 21 35205014 35205014 single base substitution C A downstream_gene_variant SKCA-BR 21 35205014 35205014 single base substitution C A intron_variant SKCA-BR 21 35205021 35205021 single base substitution G A downstream_gene_variant SKCA-BR 21 35205021 35205021 single base substitution G A intron_variant SKCA-BR 21 35205637 35205637 single base substitution T G downstream_gene_variant SKCA-BR 21 35205637 35205637 single base substitution T G intron_variant SKCA-BR 21 35206730 35206730 single base substitution T G downstream_gene_variant SKCA-BR 21 35206730 35206730 single base substitution T G intron_variant SKCA-BR 21 35206730 35206730 single base substitution T G splice_donor_variant SKCA-BR 21 35206943 35206943 single base substitution A T downstream_gene_variant SKCA-BR 21 35206943 35206943 single base substitution A T intron_variant SKCA-BR 21 35211647 35211647 single base substitution T G downstream_gene_variant SKCA-BR 21 35211647 35211647 single base substitution T G intron_variant SKCA-BR 21 35213582 35213582 single base substitution C T downstream_gene_variant SKCA-BR 21 35213582 35213582 single base substitution C T intron_variant SKCA-BR 21 35215458 35215458 single base substitution C T downstream_gene_variant SKCA-BR 21 35215458 35215458 single base substitution C T intron_variant SKCA-BR 21 35216760 35216760 single base substitution G C intron_variant SKCA-BR 21 35216772 35216772 single base substitution C T intron_variant SKCA-BR 21 35216993 35216993 single base substitution T G intron_variant SKCA-BR 21 35218457 35218457 single base substitution C T intron_variant SKCA-BR 21 35218590 35218590 single base substitution C T intron_variant SKCA-BR 21 35218958 35218958 single base substitution G A intron_variant SKCA-BR 21 35220426 35220426 single base substitution C T intron_variant SKCA-BR 21 35221046 35221046 single base substitution C T intron_variant SKCA-BR 21 35222509 35222509 single base substitution C T intron_variant SKCA-BR 21 35227037 35227037 single base substitution G A intron_variant SKCA-BR 21 35227037 35227037 single base substitution G A upstream_gene_variant SKCA-BR 21 35231208 35231208 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 21 35231208 35231208 insertion of <=200bp - CT intron_variant SKCA-BR 21 35233444 35233444 single base substitution A G downstream_gene_variant SKCA-BR 21 35233444 35233444 single base substitution A G intron_variant SKCA-BR 21 35234284 35234284 single base substitution G C intron_variant SKCA-BR 21 35238066 35238066 single base substitution C T intron_variant SKCA-BR 21 35240987 35240987 single base substitution C T intron_variant SKCA-BR 21 35242347 35242347 single base substitution C T intron_variant SKCA-BR 21 35247918 35247918 single base substitution T C intron_variant SKCA-BR 21 35248369 35248369 insertion of <=200bp - TCTCTTTCTCCCTTTTTCTTTC intron_variant SKCA-BR 21 35248397 35248397 insertion of <=200bp - CTCCCTT intron_variant SKCA-BR 21 35248406 35248407 deletion of <=200bp CT - intron_variant SKCA-BR 21 35248425 35248455 deletion of <=200bp CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT - intron_variant SKCA-BR 21 35248442 35248442 single base substitution T C intron_variant SKCA-BR 21 35248625 35248625 single base substitution C T intron_variant SKCA-BR 21 35249203 35249203 insertion of <=200bp - GTAGATA intron_variant SKCA-BR 21 35252558 35252558 single base substitution G C intron_variant SKCA-BR 21 35253477 35253477 single base substitution C T intron_variant SKCA-BR 21 35259369 35259369 single base substitution C T downstream_gene_variant SKCA-BR 21 35259369 35259369 single base substitution C T intron_variant SKCA-BR 21 35260587 35260587 single base substitution T G 3_prime_UTR_variant SKCA-BR 21 35260587 35260587 single base substitution T G downstream_gene_variant SKCA-BR 21 35260587 35260587 single base substitution T G missense_variant L1656V 4966T>G SKCA-BR 21 35260587 35260587 single base substitution T G missense_variant L1712V 5134T>G SKCA-BR 21 35260587 35260587 single base substitution T G missense_variant L1717V 5149T>G SKCA-BR 21 35260905 35260905 single base substitution C T 3_prime_UTR_variant SKCA-BR 21 35260905 35260905 single base substitution C T downstream_gene_variant SKCA-BR 21 35260906 35260906 single base substitution C T 3_prime_UTR_variant SKCA-BR 21 35260906 35260906 single base substitution C T downstream_gene_variant SKCA-BR 21 35261650 35261650 single base substitution G A 3_prime_UTR_variant SKCA-BR 21 35261650 35261650 single base substitution G A downstream_gene_variant SKCA-BR 21 35263015 35263015 single base substitution C T 3_prime_UTR_variant SKCA-BR 21 35263015 35263015 single base substitution C T downstream_gene_variant SKCA-BR 21 35264926 35264926 single base substitution T G 3_prime_UTR_variant SKCA-BR 21 35264926 35264926 single base substitution T G downstream_gene_variant SKCA-BR 21 35268170 35268170 single base substitution G A 3_prime_UTR_variant SKCA-BR 21 35274554 35274554 single base substitution C T downstream_gene_variant SKCA-BR 21 35275034 35275034 single base substitution G A downstream_gene_variant SKCA-BR 21 35276560 35276560 single base substitution G A downstream_gene_variant SKCM-US 21 35094928 35094928 single base substitution T A downstream_gene_variant SKCM-US 21 35094928 35094928 single base substitution T A missense_variant L53I 157T>A SKCM-US 21 35122509 35122509 single base substitution C T intron_variant SKCM-US 21 35122509 35122509 single base substitution C T synonymous_variant S136S 408C>T SKCM-US 21 35122509 35122509 single base substitution C T upstream_gene_variant SKCM-US 21 35122567 35122567 single base substitution C T intron_variant SKCM-US 21 35122567 35122567 single base substitution C T missense_variant P119S 355C>T SKCM-US 21 35122567 35122567 single base substitution C T missense_variant P156S 466C>T SKCM-US 21 35122567 35122567 single base substitution C T upstream_gene_variant SKCM-US 21 35138184 35138184 single base substitution T C exon_variant SKCM-US 21 35138184 35138184 single base substitution T C missense_variant L205P 614T>C SKCM-US 21 35138184 35138184 single base substitution T C missense_variant L228P 683T>C SKCM-US 21 35138184 35138184 single base substitution T C missense_variant L265P 794T>C SKCM-US 21 35140024 35140024 single base substitution C T exon_variant SKCM-US 21 35140024 35140024 single base substitution C T stop_gained R252* 754C>T SKCM-US 21 35140024 35140024 single base substitution C T stop_gained R275* 823C>T SKCM-US 21 35140024 35140024 single base substitution C T stop_gained R312* 934C>T SKCM-US 21 35166652 35166652 single base substitution G A missense_variant R574K 1721G>A SKCM-US 21 35166652 35166652 single base substitution G A missense_variant R611K 1832G>A SKCM-US 21 35166652 35166652 single base substitution G A upstream_gene_variant SKCM-US 21 35169762 35169762 single base substitution G A missense_variant E641K 1921G>A SKCM-US 21 35169762 35169762 single base substitution G A missense_variant E678K 2032G>A SKCM-US 21 35169762 35169762 single base substitution G A upstream_gene_variant SKCM-US 21 35183372 35183372 single base substitution C T 3_prime_UTR_variant SKCM-US 21 35183372 35183372 single base substitution C T missense_variant P39S 115C>T SKCM-US 21 35183372 35183372 single base substitution C T missense_variant P763S 2287C>T SKCM-US 21 35183372 35183372 single base substitution C T missense_variant P800S 2398C>T SKCM-US 21 35183372 35183372 single base substitution C T missense_variant P805S 2413C>T SKCM-US 21 35183372 35183372 single base substitution C T upstream_gene_variant SKCM-US 21 35183432 35183432 single base substitution C T 3_prime_UTR_variant SKCM-US 21 35183432 35183432 single base substitution C T missense_variant P59S 175C>T SKCM-US 21 35183432 35183432 single base substitution C T missense_variant P783S 2347C>T SKCM-US 21 35183432 35183432 single base substitution C T missense_variant P820S 2458C>T SKCM-US 21 35183432 35183432 single base substitution C T missense_variant P825S 2473C>T SKCM-US 21 35183432 35183432 single base substitution C T upstream_gene_variant SKCM-US 21 35186232 35186232 single base substitution G A 3_prime_UTR_variant SKCM-US 21 35186232 35186232 single base substitution G A exon_variant SKCM-US 21 35186232 35186232 single base substitution G A synonymous_variant T819T 2457G>A SKCM-US 21 35186232 35186232 single base substitution G A synonymous_variant T856T 2568G>A SKCM-US 21 35186232 35186232 single base substitution G A synonymous_variant T861T 2583G>A SKCM-US 21 35186232 35186232 single base substitution G A synonymous_variant T95T 285G>A SKCM-US 21 35186232 35186232 single base substitution G A upstream_gene_variant SKCM-US 21 35186362 35186362 single base substitution C T 3_prime_UTR_variant SKCM-US 21 35186362 35186362 single base substitution C T exon_variant SKCM-US 21 35186362 35186362 single base substitution C T missense_variant P139S 415C>T SKCM-US 21 35186362 35186362 single base substitution C T missense_variant P863S 2587C>T SKCM-US 21 35186362 35186362 single base substitution C T missense_variant P900S 2698C>T SKCM-US 21 35186362 35186362 single base substitution C T missense_variant P905S 2713C>T SKCM-US 21 35186362 35186362 single base substitution C T upstream_gene_variant SKCM-US 21 35195852 35195852 single base substitution G A exon_variant SKCM-US 21 35195852 35195852 single base substitution G A intron_variant SKCM-US 21 35195852 35195852 single base substitution G A synonymous_variant G1021G 3063G>A SKCM-US 21 35195852 35195852 single base substitution G A synonymous_variant G1026G 3078G>A SKCM-US 21 35195852 35195852 single base substitution G A synonymous_variant G984G 2952G>A SKCM-US 21 35206644 35206644 single base substitution C T 3_prime_UTR_variant SKCM-US 21 35206644 35206644 single base substitution C T downstream_gene_variant SKCM-US 21 35206644 35206644 single base substitution C T exon_variant SKCM-US 21 35206644 35206644 single base substitution C T intron_variant SKCM-US 21 35206644 35206644 single base substitution C T missense_variant P1053S 3157C>T SKCM-US 21 35206644 35206644 single base substitution C T missense_variant P1058S 3172C>T SKCM-US 21 35206644 35206644 single base substitution C T missense_variant P1087S 3259C>T SKCM-US 21 35206644 35206644 single base substitution C T missense_variant P1124S 3370C>T SKCM-US 21 35206644 35206644 single base substitution C T missense_variant P1129S 3385C>T SKCM-US 21 35229048 35229048 single base substitution G A 3_prime_UTR_variant SKCM-US 21 35229048 35229048 single base substitution G A exon_variant SKCM-US 21 35229048 35229048 single base substitution G A missense_variant D1219N 3655G>A SKCM-US 21 35229048 35229048 single base substitution G A missense_variant D1224N 3670G>A SKCM-US 21 35229048 35229048 single base substitution G A upstream_gene_variant SKCM-US 21 35237482 35237482 single base substitution C G 3_prime_UTR_variant SKCM-US 21 35237482 35237482 single base substitution C G synonymous_variant S1301S 3903C>G SKCM-US 21 35237482 35237482 single base substitution C G synonymous_variant S1306S 3918C>G SKCM-US 21 35237482 35237482 single base substitution C G synonymous_variant S41S 123C>G SKCM-US 21 35237568 35237568 single base substitution G C 3_prime_UTR_variant SKCM-US 21 35237568 35237568 single base substitution G C missense_variant R1330P 3989G>C SKCM-US 21 35237568 35237568 single base substitution G C missense_variant R1335P 4004G>C SKCM-US 21 35237568 35237568 single base substitution G C missense_variant R70P 209G>C SKCM-US 21 35247658 35247658 single base substitution A C intron_variant SKCM-US 21 35247658 35247658 single base substitution A C missense_variant I1387L 4159A>C SKCM-US 21 35247658 35247658 single base substitution A C missense_variant I1392L 4174A>C SKCM-US 21 35247658 35247658 single base substitution A C splice_region_variant SKCM-US 21 35247658 35247658 single base substitution A C upstream_gene_variant SKCM-US 21 35247714 35247714 single base substitution G A 3_prime_UTR_variant SKCM-US 21 35247714 35247714 single base substitution G A exon_variant SKCM-US 21 35247714 35247714 single base substitution G A intron_variant SKCM-US 21 35247714 35247714 single base substitution G A synonymous_variant L1405L 4215G>A SKCM-US 21 35247714 35247714 single base substitution G A synonymous_variant L1410L 4230G>A SKCM-US 21 35247714 35247714 single base substitution G A synonymous_variant L17L 51G>A SKCM-US 21 35247748 35247748 single base substitution G A 3_prime_UTR_variant SKCM-US 21 35247748 35247748 single base substitution G A exon_variant SKCM-US 21 35247748 35247748 single base substitution G A intron_variant SKCM-US 21 35247748 35247748 single base substitution G A missense_variant E1417K 4249G>A SKCM-US 21 35247748 35247748 single base substitution G A missense_variant E1422K 4264G>A SKCM-US 21 35247748 35247748 single base substitution G A missense_variant E29K 85G>A SKCM-US 21 35254664 35254664 single base substitution C T 3_prime_UTR_variant SKCM-US 21 35254664 35254664 single base substitution C T intron_variant SKCM-US 21 35254664 35254664 single base substitution C T missense_variant L1426F 4276C>T SKCM-US 21 35254664 35254664 single base substitution C T missense_variant L1482F 4444C>T SKCM-US 21 35254664 35254664 single base substitution C T missense_variant L1487F 4459C>T SKCM-US 21 35254664 35254664 single base substitution C T missense_variant L166F 496C>T SKCM-US 21 35258600 35258600 single base substitution A G 3_prime_UTR_variant SKCM-US 21 35258600 35258600 single base substitution A G missense_variant N154S 461A>G SKCM-US 21 35258600 35258600 single base substitution A G missense_variant N1557S 4670A>G SKCM-US 21 35258600 35258600 single base substitution A G missense_variant N1613S 4838A>G SKCM-US 21 35258600 35258600 single base substitution A G missense_variant N1618S 4853A>G SKCM-US 21 35258600 35258600 single base substitution A G missense_variant N297S 890A>G SKCM-US 21 35258649 35258649 single base substitution G A 3_prime_UTR_variant SKCM-US 21 35258649 35258649 single base substitution G A synonymous_variant T1573T 4719G>A SKCM-US 21 35258649 35258649 single base substitution G A synonymous_variant T1629T 4887G>A SKCM-US 21 35258649 35258649 single base substitution G A synonymous_variant T1634T 4902G>A SKCM-US 21 35258649 35258649 single base substitution G A synonymous_variant T170T 510G>A SKCM-US 21 35258649 35258649 single base substitution G A synonymous_variant T313T 939G>A SKCM-US 21 35260506 35260506 single base substitution G A 3_prime_UTR_variant SKCM-US 21 35260506 35260506 single base substitution G A downstream_gene_variant SKCM-US 21 35260506 35260506 single base substitution G A missense_variant G1629S 4885G>A SKCM-US 21 35260506 35260506 single base substitution G A missense_variant G1685S 5053G>A SKCM-US 21 35260506 35260506 single base substitution G A missense_variant G1690S 5068G>A SKCM-US 21 35260578 35260578 single base substitution G A 3_prime_UTR_variant SKCM-US 21 35260578 35260578 single base substitution G A downstream_gene_variant SKCM-US 21 35260578 35260578 single base substitution G A missense_variant D1653N 4957G>A SKCM-US 21 35260578 35260578 single base substitution G A missense_variant D1709N 5125G>A SKCM-US 21 35260578 35260578 single base substitution G A missense_variant D1714N 5140G>A SKCM-US 21 35275880 35275880 single base substitution C A downstream_gene_variant SKCM-US 21 35275893 35275893 single base substitution A T downstream_gene_variant SKCM-US 21 35276277 35276277 single base substitution A G downstream_gene_variant STAD-US 21 35122567 35122567 insertion of <=200bp - C frameshift_variant P119P? STAD-US 21 35122567 35122567 insertion of <=200bp - C frameshift_variant P156P? STAD-US 21 35122567 35122567 insertion of <=200bp - C intron_variant STAD-US 21 35122567 35122567 insertion of <=200bp - C upstream_gene_variant STAD-US 21 35127704 35127704 single base substitution T C splice_donor_variant STAD-US 21 35138206 35138206 deletion of <=200bp A - exon_variant STAD-US 21 35138206 35138206 deletion of <=200bp A - frameshift_variant G212 STAD-US 21 35138206 35138206 deletion of <=200bp A - frameshift_variant G235 STAD-US 21 35138206 35138206 deletion of <=200bp A - frameshift_variant G272 STAD-US 21 35147278 35147278 deletion of <=200bp A - downstream_gene_variant STAD-US 21 35147278 35147278 deletion of <=200bp A - exon_variant STAD-US 21 35147278 35147278 deletion of <=200bp A - frameshift_variant K451 STAD-US 21 35147278 35147278 deletion of <=200bp A - frameshift_variant K488 STAD-US 21 35147303 35147303 single base substitution T G downstream_gene_variant STAD-US 21 35147303 35147303 single base substitution T G exon_variant STAD-US 21 35147303 35147303 single base substitution T G missense_variant L459R 1376T>G STAD-US 21 35147303 35147303 single base substitution T G missense_variant L496R 1487T>G STAD-US 21 35154338 35154338 single base substitution A G synonymous_variant K538K 1614A>G STAD-US 21 35154338 35154338 single base substitution A G synonymous_variant K575K 1725A>G STAD-US 21 35166671 35166671 single base substitution A G synonymous_variant Q580Q 1740A>G STAD-US 21 35166671 35166671 single base substitution A G synonymous_variant Q617Q 1851A>G STAD-US 21 35166671 35166671 single base substitution A G upstream_gene_variant STAD-US 21 35169896 35169896 single base substitution A C exon_variant STAD-US 21 35169896 35169896 single base substitution A C synonymous_variant A685A 2055A>C STAD-US 21 35169896 35169896 single base substitution A C synonymous_variant A722A 2166A>C STAD-US 21 35169896 35169896 single base substitution A C upstream_gene_variant STAD-US 21 35169909 35169909 single base substitution G A exon_variant STAD-US 21 35169909 35169909 single base substitution G A missense_variant A690T 2068G>A STAD-US 21 35169909 35169909 single base substitution G A missense_variant A727T 2179G>A STAD-US 21 35169909 35169909 single base substitution G A upstream_gene_variant STAD-US 21 35174739 35174739 insertion of <=200bp - G frameshift_variant K4K? STAD-US 21 35174739 35174739 insertion of <=200bp - G frameshift_variant K770K? STAD-US 21 35174739 35174739 insertion of <=200bp - G intron_variant STAD-US 21 35174739 35174739 insertion of <=200bp - G splice_acceptor_variant STAD-US 21 35174740 35174740 insertion of <=200bp - G frameshift_variant G5G? STAD-US 21 35174740 35174740 insertion of <=200bp - G frameshift_variant G771G? STAD-US 21 35174740 35174740 insertion of <=200bp - G intron_variant STAD-US 21 35174740 35174740 insertion of <=200bp - G splice_acceptor_variant STAD-US 21 35183448 35183448 single base substitution G A 3_prime_UTR_variant STAD-US 21 35183448 35183448 single base substitution G A missense_variant R64H 191G>A STAD-US 21 35183448 35183448 single base substitution G A missense_variant R788H 2363G>A STAD-US 21 35183448 35183448 single base substitution G A missense_variant R825H 2474G>A STAD-US 21 35183448 35183448 single base substitution G A missense_variant R830H 2489G>A STAD-US 21 35183448 35183448 single base substitution G A upstream_gene_variant STAD-US 21 35190767 35190767 single base substitution A G downstream_gene_variant STAD-US 21 35190767 35190767 single base substitution A G exon_variant STAD-US 21 35190767 35190767 single base substitution A G intron_variant STAD-US 21 35190767 35190767 single base substitution A G missense_variant K933R 2798A>G STAD-US 21 35190767 35190767 single base substitution A G missense_variant K970R 2909A>G STAD-US 21 35190767 35190767 single base substitution A G missense_variant K975R 2924A>G STAD-US 21 35195847 35195847 single base substitution C T exon_variant STAD-US 21 35195847 35195847 single base substitution C T intron_variant STAD-US 21 35195847 35195847 single base substitution C T stop_gained Q1020* 3058C>T STAD-US 21 35195847 35195847 single base substitution C T stop_gained Q1025* 3073C>T STAD-US 21 35195847 35195847 single base substitution C T stop_gained Q983* 2947C>T STAD-US 21 35195929 35195929 single base substitution C T exon_variant STAD-US 21 35195929 35195929 single base substitution C T intron_variant STAD-US 21 35195929 35195929 single base substitution C T missense_variant S1010F 3029C>T STAD-US 21 35195929 35195929 single base substitution C T missense_variant S1047F 3140C>T STAD-US 21 35195929 35195929 single base substitution C T missense_variant S1052F 3155C>T STAD-US 21 35237536 35237536 single base substitution G A 3_prime_UTR_variant STAD-US 21 35237536 35237536 single base substitution G A synonymous_variant P1319P 3957G>A STAD-US 21 35237536 35237536 single base substitution G A synonymous_variant P1324P 3972G>A STAD-US 21 35237536 35237536 single base substitution G A synonymous_variant P59P 177G>A STAD-US 21 35247781 35247781 single base substitution C A 3_prime_UTR_variant STAD-US 21 35247781 35247781 single base substitution C A exon_variant STAD-US 21 35247781 35247781 single base substitution C A intron_variant STAD-US 21 35247781 35247781 single base substitution C A missense_variant L1428M 4282C>A STAD-US 21 35247781 35247781 single base substitution C A missense_variant L1433M 4297C>A STAD-US 21 35247781 35247781 single base substitution C A missense_variant L40M 118C>A STAD-US 21 35260458 35260458 single base substitution T G downstream_gene_variant STAD-US 21 35260458 35260458 single base substitution T G missense_variant F1613V 4837T>G STAD-US 21 35260458 35260458 single base substitution T G missense_variant F1669V 5005T>G STAD-US 21 35260458 35260458 single base substitution T G missense_variant F1674V 5020T>G STAD-US 21 35260458 35260458 single base substitution T G splice_region_variant STAD-US 21 35260498 35260503 deletion of <=200bp AAGACC - 3_prime_UTR_variant STAD-US 21 35260498 35260503 deletion of <=200bp AAGACC - disruptive_inframe_deletion KDQ1626K STAD-US 21 35260498 35260503 deletion of <=200bp AAGACC - disruptive_inframe_deletion KDQ1682K STAD-US 21 35260498 35260503 deletion of <=200bp AAGACC - disruptive_inframe_deletion KDQ1687K STAD-US 21 35260498 35260503 deletion of <=200bp AAGACC - downstream_gene_variant THCA-SA 21 35014143 35014143 single base substitution G A upstream_gene_variant THCA-SA 21 35201947 35201947 single base substitution C T 3_prime_UTR_variant THCA-SA 21 35201947 35201947 single base substitution C T downstream_gene_variant THCA-SA 21 35201947 35201947 single base substitution C T exon_variant THCA-SA 21 35201947 35201947 single base substitution C T synonymous_variant A1007A 3021C>T THCA-SA 21 35201947 35201947 single base substitution C T synonymous_variant A1012A 3036C>T THCA-SA 21 35201947 35201947 single base substitution C T synonymous_variant A1041A 3123C>T THCA-SA 21 35201947 35201947 single base substitution C T synonymous_variant A1078A 3234C>T THCA-SA 21 35201947 35201947 single base substitution C T synonymous_variant A1083A 3249C>T UCEC-US 21 35093522 35093522 single base substitution C T exon_variant UCEC-US 21 35093522 35093522 single base substitution C T missense_variant A23V 68C>T UCEC-US 21 35094914 35094914 single base substitution T G downstream_gene_variant UCEC-US 21 35094914 35094914 single base substitution T G missense_variant F48C 143T>G UCEC-US 21 35107496 35107496 single base substitution C T downstream_gene_variant UCEC-US 21 35107496 35107496 single base substitution C T synonymous_variant S111S 333C>T UCEC-US 21 35107496 35107496 single base substitution C T synonymous_variant S50S 150C>T UCEC-US 21 35122513 35122513 single base substitution C T intron_variant UCEC-US 21 35122513 35122513 single base substitution C T missense_variant P138S 412C>T UCEC-US 21 35122513 35122513 single base substitution C T upstream_gene_variant UCEC-US 21 35124114 35124114 single base substitution G A splice_acceptor_variant UCEC-US 21 35124114 35124114 single base substitution G A upstream_gene_variant UCEC-US 21 35124151 35124151 single base substitution C G missense_variant S128C 383C>G UCEC-US 21 35124151 35124151 single base substitution C G missense_variant S151C 452C>G UCEC-US 21 35124151 35124151 single base substitution C G missense_variant S188C 563C>G UCEC-US 21 35124151 35124151 single base substitution C G upstream_gene_variant UCEC-US 21 35134258 35134258 single base substitution A G exon_variant UCEC-US 21 35134258 35134258 single base substitution A G synonymous_variant S192S 576A>G UCEC-US 21 35134258 35134258 single base substitution A G synonymous_variant S215S 645A>G UCEC-US 21 35134258 35134258 single base substitution A G synonymous_variant S252S 756A>G UCEC-US 21 35138239 35138239 single base substitution G A exon_variant UCEC-US 21 35138239 35138239 single base substitution G A missense_variant M223I 669G>A UCEC-US 21 35138239 35138239 single base substitution G A missense_variant M246I 738G>A UCEC-US 21 35138239 35138239 single base substitution G A missense_variant M283I 849G>A UCEC-US 21 35144400 35144400 single base substitution C T exon_variant UCEC-US 21 35144400 35144400 single base substitution C T missense_variant R300C 898C>T UCEC-US 21 35144400 35144400 single base substitution C T missense_variant R323C 967C>T UCEC-US 21 35144400 35144400 single base substitution C T missense_variant R360C 1078C>T UCEC-US 21 35144400 35144400 single base substitution C T upstream_gene_variant UCEC-US 21 35144424 35144424 single base substitution C T exon_variant UCEC-US 21 35144424 35144424 single base substitution C T stop_gained R308* 922C>T UCEC-US 21 35144424 35144424 single base substitution C T stop_gained R331* 991C>T UCEC-US 21 35144424 35144424 single base substitution C T stop_gained R368* 1102C>T UCEC-US 21 35144424 35144424 single base substitution C T upstream_gene_variant UCEC-US 21 35147378 35147378 single base substitution T C downstream_gene_variant UCEC-US 21 35147378 35147378 single base substitution T C exon_variant UCEC-US 21 35147378 35147378 single base substitution T C missense_variant I484T 1451T>C UCEC-US 21 35147378 35147378 single base substitution T C missense_variant I521T 1562T>C UCEC-US 21 35154399 35154399 single base substitution A C missense_variant K559Q 1675A>C UCEC-US 21 35154399 35154399 single base substitution A C missense_variant K596Q 1786A>C UCEC-US 21 35169761 35169761 single base substitution C T synonymous_variant H640H 1920C>T UCEC-US 21 35169761 35169761 single base substitution C T synonymous_variant H677H 2031C>T UCEC-US 21 35169761 35169761 single base substitution C T upstream_gene_variant UCEC-US 21 35169771 35169771 single base substitution A C missense_variant K644Q 1930A>C UCEC-US 21 35169771 35169771 single base substitution A C missense_variant K681Q 2041A>C UCEC-US 21 35169771 35169771 single base substitution A C upstream_gene_variant UCEC-US 21 35172208 35172208 single base substitution C T exon_variant UCEC-US 21 35172208 35172208 single base substitution C T missense_variant T723I 2168C>T UCEC-US 21 35172208 35172208 single base substitution C T missense_variant T760I 2279C>T UCEC-US 21 35172208 35172208 single base substitution C T upstream_gene_variant UCEC-US 21 35183292 35183292 deletion of <=200bp A - exon_variant UCEC-US 21 35183292 35183292 deletion of <=200bp A - frameshift_variant Q12 UCEC-US 21 35183292 35183292 deletion of <=200bp A - frameshift_variant Q736 UCEC-US 21 35183292 35183292 deletion of <=200bp A - frameshift_variant Q773 UCEC-US 21 35183292 35183292 deletion of <=200bp A - frameshift_variant Q778 UCEC-US 21 35183292 35183292 deletion of <=200bp A - upstream_gene_variant UCEC-US 21 35186339 35186339 single base substitution C T 3_prime_UTR_variant UCEC-US 21 35186339 35186339 single base substitution C T exon_variant UCEC-US 21 35186339 35186339 single base substitution C T missense_variant T131M 392C>T UCEC-US 21 35186339 35186339 single base substitution C T missense_variant T855M 2564C>T UCEC-US 21 35186339 35186339 single base substitution C T missense_variant T892M 2675C>T UCEC-US 21 35186339 35186339 single base substitution C T missense_variant T897M 2690C>T UCEC-US 21 35186339 35186339 single base substitution C T upstream_gene_variant UCEC-US 21 35190612 35190612 single base substitution T C downstream_gene_variant UCEC-US 21 35190612 35190612 single base substitution T C exon_variant UCEC-US 21 35190612 35190612 single base substitution T C intron_variant UCEC-US 21 35190612 35190612 single base substitution T C synonymous_variant P881P 2643T>C UCEC-US 21 35190612 35190612 single base substitution T C synonymous_variant P918P 2754T>C UCEC-US 21 35190612 35190612 single base substitution T C synonymous_variant P923P 2769T>C UCEC-US 21 35190612 35190612 single base substitution T C upstream_gene_variant UCEC-US 21 35195906 35195906 single base substitution C T exon_variant UCEC-US 21 35195906 35195906 single base substitution C T intron_variant UCEC-US 21 35195906 35195906 single base substitution C T synonymous_variant G1002G 3006C>T UCEC-US 21 35195906 35195906 single base substitution C T synonymous_variant G1039G 3117C>T UCEC-US 21 35195906 35195906 single base substitution C T synonymous_variant G1044G 3132C>T UCEC-US 21 35199157 35199157 single base substitution A G exon_variant UCEC-US 21 35199157 35199157 single base substitution A G intron_variant UCEC-US 21 35199157 35199157 single base substitution A G missense_variant K1013E 3037A>G UCEC-US 21 35199157 35199157 single base substitution A G synonymous_variant G1031G 3093A>G UCEC-US 21 35199157 35199157 single base substitution A G synonymous_variant G1068G 3204A>G UCEC-US 21 35199157 35199157 single base substitution A G synonymous_variant G1073G 3219A>G UCEC-US 21 35199157 35199157 single base substitution A G upstream_gene_variant UCEC-US 21 35201991 35201991 single base substitution G A 3_prime_UTR_variant UCEC-US 21 35201991 35201991 single base substitution G A downstream_gene_variant UCEC-US 21 35201991 35201991 single base substitution G A exon_variant UCEC-US 21 35201991 35201991 single base substitution G A missense_variant G1022D 3065G>A UCEC-US 21 35201991 35201991 single base substitution G A missense_variant G1027D 3080G>A UCEC-US 21 35201991 35201991 single base substitution G A missense_variant G1056D 3167G>A UCEC-US 21 35201991 35201991 single base substitution G A missense_variant G1093D 3278G>A UCEC-US 21 35201991 35201991 single base substitution G A missense_variant G1098D 3293G>A UCEC-US 21 35202043 35202043 single base substitution G A 3_prime_UTR_variant UCEC-US 21 35202043 35202043 single base substitution G A downstream_gene_variant UCEC-US 21 35202043 35202043 single base substitution G A exon_variant UCEC-US 21 35202043 35202043 single base substitution G A synonymous_variant E1039E 3117G>A UCEC-US 21 35202043 35202043 single base substitution G A synonymous_variant E1044E 3132G>A UCEC-US 21 35202043 35202043 single base substitution G A synonymous_variant E1073E 3219G>A UCEC-US 21 35202043 35202043 single base substitution G A synonymous_variant E1110E 3330G>A UCEC-US 21 35202043 35202043 single base substitution G A synonymous_variant E1115E 3345G>A UCEC-US 21 35229123 35229123 single base substitution G A 3_prime_UTR_variant UCEC-US 21 35229123 35229123 single base substitution G A downstream_gene_variant UCEC-US 21 35229123 35229123 single base substitution G A missense_variant E1244K 3730G>A UCEC-US 21 35229123 35229123 single base substitution G A missense_variant E1249K 3745G>A UCEC-US 21 35229123 35229123 single base substitution G A upstream_gene_variant UCEC-US 21 35237482 35237482 single base substitution C T 3_prime_UTR_variant UCEC-US 21 35237482 35237482 single base substitution C T synonymous_variant S1301S 3903C>T UCEC-US 21 35237482 35237482 single base substitution C T synonymous_variant S1306S 3918C>T UCEC-US 21 35237482 35237482 single base substitution C T synonymous_variant S41S 123C>T UCEC-US 21 35237632 35237632 single base substitution C T 3_prime_UTR_variant UCEC-US 21 35237632 35237632 single base substitution C T synonymous_variant F1351F 4053C>T UCEC-US 21 35237632 35237632 single base substitution C T synonymous_variant F1356F 4068C>T UCEC-US 21 35237632 35237632 single base substitution C T synonymous_variant F91F 273C>T UCEC-US 21 35254583 35254583 single base substitution C T 3_prime_UTR_variant UCEC-US 21 35254583 35254583 single base substitution C T intron_variant UCEC-US 21 35254583 35254583 single base substitution C T missense_variant P1399S 4195C>T UCEC-US 21 35254583 35254583 single base substitution C T missense_variant P139S 415C>T UCEC-US 21 35254583 35254583 single base substitution C T missense_variant P1455S 4363C>T UCEC-US 21 35254583 35254583 single base substitution C T missense_variant P1460S 4378C>T UCEC-US 21 35254629 35254629 single base substitution A G 3_prime_UTR_variant UCEC-US 21 35254629 35254629 single base substitution A G intron_variant UCEC-US 21 35254629 35254629 single base substitution A G missense_variant N1414S 4241A>G UCEC-US 21 35254629 35254629 single base substitution A G missense_variant N1470S 4409A>G UCEC-US 21 35254629 35254629 single base substitution A G missense_variant N1475S 4424A>G UCEC-US 21 35254629 35254629 single base substitution A G missense_variant N154S 461A>G UCEC-US 21 35257781 35257781 single base substitution G A 3_prime_UTR_variant UCEC-US 21 35257781 35257781 single base substitution G A missense_variant V136M 406G>A UCEC-US 21 35257781 35257781 single base substitution G A missense_variant V1539M 4615G>A UCEC-US 21 35257781 35257781 single base substitution G A missense_variant V1595M 4783G>A UCEC-US 21 35257781 35257781 single base substitution G A missense_variant V1600M 4798G>A UCEC-US 21 35257781 35257781 single base substitution G A missense_variant V279M 835G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D3-A2JF-06 COSM3550451 c.4004G>C p.R1335P Substitution - Missense 21:33865264-33865264 + I2L-P19Ta-Tumor-Organoid COSM5366239 c.4231G>C p.E1411Q Substitution - Missense 21:33875411-33875411 + TCGA-RC-A7SK-01 COSM4918568 c.742A>G p.I248V Substitution - Missense 21:33761940-33761940 + RK034_C01 COSM1632466 c.755C>T p.S252L Substitution - Missense 21:33761953-33761953 + TCGA-D1-A17B-01 COSM1030414 c.3219A>G p.G1073G Substitution - coding silent 21:33826853-33826853 + 587220 COSM1211177 c.5005T>A p.F1669I Substitution - Missense 21:33886448-33886448 + YUROG COSM5392844 c.2199C>T p.T733T Substitution - coding silent 21:33799824-33799824 + TCGA-A8-A0A6-01 COSM3841843 c.2738T>G p.V913G Substitution - Missense 21:33818277-33818277 + TCGA-DR-A0ZM-01 COSM459625 c.1396G>A p.E466K Substitution - Missense 21:33774819-33774819 + 1N35-VS-1T35 COSM4974849 c.4626C>G p.I1542M Substitution - Missense 21:33883621-33883621 + TCGA-EB-A430-01 COSM3550461 c.4902G>A p.T1634T Substitution - coding silent 21:33886345-33886345 + pfg008T COSM1641457 c.3469+4A>T p.? Unknown 21:33834428-33834428 + LUAD-B01811 COSM334348 c.1130G>T p.R377L Substitution - Missense 21:33772148-33772148 + TCGA-AZ-4315-01 COSM175181 c.934C>T p.R312* Substitution - Nonsense 21:33767720-33767720 + 51T COSM110001 c.4026G>A p.L1342L Substitution - coding silent 21:33865286-33865286 + 2492711 COSM5718818 c.4254C>T p.S1418S Substitution - coding silent 21:33875434-33875434 + Pat_41_B COSM5858567 c.4579G>A p.V1527I Substitution - Missense 21:33883574-33883574 + C658 COSM4443430 c.4213C>A p.H1405N Substitution - Missense 21:33875393-33875393 + S00936 COSM312095 c.147T>C p.F49F Substitution - coding silent 21:33722613-33722613 + TCGA-B5-A11E-01 COSM1030409 c.2279C>T p.T760I Substitution - Missense 21:33799904-33799904 + 18195 COSM1307754 c.1447G>C p.E483Q Substitution - Missense 21:33774870-33774870 + S00833 COSM312094 c.1585C>T p.Q529* Substitution - Nonsense 21:33775097-33775097 + TCGA-CA-6717-01 COSM1413913 c.3038A>G p.Y1013C Substitution - Missense 21:33823508-33823508 + TCGA-D9-A4Z3-01 COSM3550445 c.3078G>A p.G1026G Substitution - coding silent 21:33823548-33823548 + TCGA-BH-A18G-01 COSM3841838 c.2551G>A p.A851T Substitution - Missense 21:33811206-33811206 + ESCC_5 COSM5623233 c.4510G>A p.V1504I Substitution - Missense 21:33882411-33882411 + S01728 COSM312096 c.3116G>A p.W1039* Substitution - Nonsense 21:33823586-33823586 + 587342 COSM1211184 c.4435T>C p.Y1479H Substitution - Missense 21:33882336-33882336 + TCGA-HP-A5MZ-01 COSM4942081 c.2512G>T p.V838L Substitution - Missense 21:33811167-33811167 + T3021 COSM4693653 c.2421T>C p.N807N Substitution - coding silent 21:33811076-33811076 + GC1_T COSM149221 c.1686A>G p.R562R Substitution - coding silent 21:33781995-33781995 + PD24190a COSM5780814 c.681A>G p.Q227Q Substitution - coding silent 21:33755354-33755354 + TCGA-D3-A51J-06 COSM3550439 c.2413C>T p.P805S Substitution - Missense 21:33811068-33811068 + TCGA-FW-A3R5-06 COSM3912049 c.4264G>A p.E1422K Substitution - Missense 21:33875444-33875444 + TCGA-D8-A27G-01 COSM3841823 c.443C>G p.S148C Substitution - Missense 21:33750239-33750239 + TCGA-BR-8687-01 COSM4101412 c.2924A>G p.K975R Substitution - Missense 21:33818463-33818463 + HCC2998 COSM1681946 c.3875A>C p.N1292T Substitution - Missense 21:33858777-33858777 + TCGA-B5-A11E-01 COSM1030399 c.527-1G>A p.? Unknown 21:33751809-33751809 + 90003 COSM329433 c.1144C>T p.R382C Substitution - Missense 21:33772162-33772162 + TCGA-EE-A2MJ-06 COSM3550428 c.794T>C p.L265P Substitution - Missense 21:33765880-33765880 + TCGA-BP-5201-01 COSM478544 c.1603C>A p.Q535K Substitution - Missense 21:33781467-33781467 + CSCC-44-T COSM4489256 c.3452C>G p.S1151* Substitution - Nonsense 21:33834407-33834407 + TCGA-HC-8264-01 COSM4393078 c.3951C>T p.D1317D Substitution - coding silent 21:33865211-33865211 + T155 COSM1177139 c.2974C>T p.R992* Substitution - Nonsense 21:33819281-33819281 + 394 COSM4428542 c.4493C>A p.S1498Y Substitution - Missense 21:33882394-33882394 + TCGA-JW-A5VL-01 COSM4847366 c.4711G>A p.E1571K Substitution - Missense 21:33885075-33885075 + PT42 COSM5926127 c.2249C>T p.P750L Substitution - Missense 21:33799874-33799874 + 587376 COSM1211185 c.3311G>A p.R1104Q Substitution - Missense 21:33829705-33829705 + pfg057T COSM4765157 c.466_467insC p.L158fs*3 Insertion - Frameshift 21:33750262-33750263 + PD13758a COSM5770608 c.1694T>C p.L565P Substitution - Missense 21:33782003-33782003 + TCGA-B5-A11H-01 COSM1030398 c.412C>T p.P138S Substitution - Missense 21:33750208-33750208 + TCGA-AZ-6598-01 COSM1413919 c.5042G>A p.R1681H Substitution - Missense 21:33888176-33888176 + ESCC_BICR_038T COSM5434543 c.4569T>C p.N1523N Substitution - coding silent 21:33883564-33883564 + TCGA-B0-5709-01 COSM478543 c.1047G>C p.T349T Substitution - coding silent 21:33772065-33772065 + TCGA-GI-A2C8-01 COSM1483919 c.4974C>G p.V1658V Substitution - coding silent 21:33886417-33886417 + RK176_C01 COSM2844168 c.3730G>A p.E1244K Substitution - Missense 21:33856804-33856804 + BZ11 COSM5758188 c.2227G>T p.V743L Substitution - Missense 21:33799852-33799852 + 2492714 COSM5718818 c.4254C>T p.S1418S Substitution - coding silent 21:33875434-33875434 + LP6007394-DNA_A01 COSM5952639 c.2743G>C p.G915R Substitution - Missense 21:33818282-33818282 + I2L-P18-Tumor-Organoid COSM5366218 c.3814C>A p.L1272M Substitution - Missense 21:33858716-33858716 + TCGA-HU-A4GH-01 COSM4101394 c.1487T>G p.L496R Substitution - Missense 21:33774999-33774999 + TCGA-CM-6674-01 COSM1030414 c.3219A>G p.G1073G Substitution - coding silent 21:33826853-33826853 + HCT15 COSM1681945 c.835T>A p.F279I Substitution - Missense 21:33765921-33765921 + T3174 COSM4693662 c.3086delT p.L1030fs*26 Deletion - Frameshift 21:33823556-33823556 + MO_1040 COSM1681948 c.5033C>T p.T1678M Substitution - Missense 21:33888167-33888167 + AOCS-142-3-5 COSM4137228 c.3258C>T p.T1086T Substitution - coding silent 21:33829652-33829652 + 2492709 COSM5718133 c.3684G>A p.L1228L Substitution - coding silent 21:33856758-33856758 + TCGA-BR-8680-01 COSM4101420 c.5020T>G p.F1674V Substitution - Missense 21:33888154-33888154 + HCT8 COSM1681945 c.835T>A p.F279I Substitution - Missense 21:33765921-33765921 + 721LT COSM4386113 c.4915C>A p.L1639M Substitution - Missense 21:33886358-33886358 + HCT15 COSM1681947 c.4640G>A p.R1547H Substitution - Missense 21:33883635-33883635 + LOVO COSM2844089 c.466delC p.L158fs*37 Deletion - Frameshift 21:33750262-33750262 + S02273 COSM5681947 c.3799C>A p.L1267M Substitution - Missense 21:33858701-33858701 + 2492708 COSM5718133 c.3684G>A p.L1228L Substitution - coding silent 21:33856758-33856758 + TCGA-D3-A3ML-06 COSM175181 c.934C>T p.R312* Substitution - Nonsense 21:33767720-33767720 + CSCC-29-T COSM4549850 c.4844G>A p.G1615E Substitution - Missense 21:33886287-33886287 + pfg068T COSM4752653 c.4040C>T p.T1347M Substitution - Missense 21:33865300-33865300 + CLL043 COSM1291173 c.504T>G p.P168P Substitution - coding silent 21:33750300-33750300 + TCGA-A8-A09D-01 COSM444402 c.4639C>T p.R1547C Substitution - Missense 21:33883634-33883634 + TCGA-ER-A193-06 COSM3550425 c.466C>T p.P156S Substitution - Missense 21:33750262-33750262 + TCGA-D1-A17Q-01 COSM1030412 c.2769T>C p.P923P Substitution - coding silent 21:33818308-33818308 + cSCCP7 COSM140282 c.4813G>A p.G1605S Substitution - Missense 21:33885492-33885492 + TCGA-12-3653-01 COSM3405373 c.3376G>A p.G1126S Substitution - Missense 21:33834331-33834331 + TCGA-CG-5723-01 COSM4101403 c.2166A>C p.A722A Substitution - coding silent 21:33797592-33797592 + T4 COSM5619331 c.5106C>T p.H1702H Substitution - coding silent 21:33888240-33888240 + LUAD-D02185 COSM338685 c.1629A>T p.P543P Substitution - coding silent 21:33781493-33781493 + TCGA-AP-A056-01 COSM1030413 c.3132C>T p.G1044G Substitution - coding silent 21:33823602-33823602 + TCGA-E5-A2PC-01 COSM1307754 c.1447G>C p.E483Q Substitution - Missense 21:33774870-33774870 + 587278 COSM1211180 c.1301G>A p.R434Q Substitution - Missense 21:33772319-33772319 + 1920_T COSM3963947 c.4817T>A p.I1606N Substitution - Missense 21:33885496-33885496 + TCGA-AN-A0AK-01 COSM5205899 c.1462delA p.K489fs*4 Deletion - Frameshift 21:33774974-33774974 + RK006_C02 COSM1632467 c.2933G>T p.S978I Substitution - Missense 21:33818472-33818472 + TCGA-IH-A3EA-01 COSM3550453 c.4174A>C p.I1392L Substitution - Missense 21:33875354-33875354 + 2293776 COSM4607807 c.4703C>A p.A1568D Substitution - Missense 21:33885067-33885067 + YUPAT COSM1685785 c.3446_3447insTAAG p.S1151fs*1 Insertion - Frameshift 21:33834401-33834402 + 267T COSM1727219 c.3476A>T p.Q1159L Substitution - Missense 21:33836447-33836447 + TCGA-AA-A00N-01 COSM275608 c.891T>G p.P297P Substitution - coding silent 21:33765977-33765977 + GC10_T COSM3748763 c.475G>A p.A159T Substitution - Missense 21:33750271-33750271 + T2940 COSM4693642 c.1193G>A p.R398H Substitution - Missense 21:33772211-33772211 + TCGA-39-5022-01 COSM725236 c.2291G>C p.G764A Substitution - Missense 21:33799916-33799916 + PD6626a COSM3719880 c.4414G>A p.A1472T Substitution - Missense 21:33882315-33882315 + CRC-02T COSM5454885 c.1014A>G p.E338E Substitution - coding silent 21:33767800-33767800 + TCGA-FU-A23K-01 COSM459624 c.2439G>T p.V813V Substitution - coding silent 21:33811094-33811094 + BCM617T COSM4955923 c.1588C>T p.Q530* Substitution - Nonsense 21:33775100-33775100 + PCSI_0083_Pa_P_526 COSM186079 c.2823C>T p.T941T Substitution - coding silent 21:33818362-33818362 + TCGA-D3-A2JD-06 COSM3550455 c.4230G>A p.L1410L Substitution - coding silent 21:33875410-33875410 + Pat_41_B COSM5858558 c.677G>A p.R226K Substitution - Missense 21:33755350-33755350 + 587264 COSM1211175 c.140T>A p.F47Y Substitution - Missense 21:33722606-33722606 + HCT-15 COSM1681947 c.4640G>A p.R1547H Substitution - Missense 21:33883635-33883635 + TCGA-33-4547-01 COSM725239 c.624-2A>T p.? Unknown 21:33755295-33755295 + 2492702 COSM5599728 c.4206C>T p.D1402D Substitution - coding silent 21:33875386-33875386 + TCGA-EK-A2PG-01 COSM4819535 c.3271G>A p.E1091K Substitution - Missense 21:33829665-33829665 + S01728 COSM312096 c.3116G>A p.W1039* Substitution - Nonsense 21:33823586-33823586 + PACA50 COSM1158230 c.4379C>T p.P1460L Substitution - Missense 21:33882280-33882280 + PT35 COSM5914357 c.2320-5C>T p.? Unknown 21:33810970-33810970 + TCGA-19-4068 COSM2156469 c.2992_2994delGCC p.A998delA Deletion - In frame 21:33819299-33819301 + TCGA-BR-8680-01 COSM4101391 c.724+2T>C p.? Unknown 21:33755399-33755399 + 2492701 COSM5599728 c.4206C>T p.D1402D Substitution - coding silent 21:33875386-33875386 + TCGA-D1-A17Q-01 COSM1030420 c.4378C>T p.P1460S Substitution - Missense 21:33882279-33882279 + TCGA-31-1950-01 COSM71227 c.26G>C p.G9A Substitution - Missense 21:33718854-33718854 + I2L-P19Ta-Tumor-Biopsy COSM5366239 c.4231G>C p.E1411Q Substitution - Missense 21:33875411-33875411 + TCGA-D1-A103-01 COSM1030422 c.4798G>A p.V1600M Substitution - Missense 21:33885477-33885477 + BCM617T COSM4955923 c.1588C>T p.Q530* Substitution - Nonsense 21:33775100-33775100 + TCGA-G2-A3IE-01 COSM1307755 c.1927G>C p.E643Q Substitution - Missense 21:33794443-33794443 + CSCC-7-T COSM4558619 c.774G>A p.Q258Q Substitution - coding silent 21:33761972-33761972 + 2492710 COSM5718133 c.3684G>A p.L1228L Substitution - coding silent 21:33856758-33856758 + TCGA-EE-A29M-06 COSM3550442 c.2583G>A p.T861T Substitution - coding silent 21:33813928-33813928 + TCGA-AM-5820-01 COSM3758859 c.5043T>C p.R1681R Substitution - coding silent 21:33888177-33888177 + T2269 COSM4693668 c.4570G>T p.E1524* Substitution - Nonsense 21:33883565-33883565 + 587220 COSM1211176 c.1247A>G p.Q416R Substitution - Missense 21:33772265-33772265 + T2269 COSM169917 c.1567G>A p.E523K Substitution - Missense 21:33775079-33775079 + LP6005935-DNA_D01 COSM5034749 c.4141C>T p.R1381W Substitution - Missense 21:33867299-33867299 + 2951_CLM COSM5755653 c.4381C>T p.R1461C Substitution - Missense 21:33882282-33882282 + SJRHB034 COSM3737195 c.3140_3141insACAAGG p.A1047_G1048insQG Insertion - In frame 21:33823610-33823611 + TCGA-G3-A5SL-01 COSM4929595 c.2182+2T>C p.? Unknown 21:33797610-33797610 + TCGA-09-1665-01 COSM82200 c.4461C>G p.L1487L Substitution - coding silent 21:33882362-33882362 + 2497769 COSM5750326 c.2311G>T p.G771W Substitution - Missense 21:33802436-33802436 + 388 COSM4427448 c.1318G>C p.E440Q Substitution - Missense 21:33774741-33774741 + SNUH_G22_S1 COSM4002009 c.2985T>C p.S995S Substitution - coding silent 21:33819292-33819292 + SNUH_G45_S1 COSM3758859 c.5043T>C p.R1681R Substitution - coding silent 21:33888177-33888177 + RK034_C COSM1632466 c.755C>T p.S252L Substitution - Missense 21:33761953-33761953 + YUNEKI COSM5392847 c.3079G>A p.D1027N Substitution - Missense 21:33823549-33823549 + Pat_46_A COSM175181 c.934C>T p.R312* Substitution - Nonsense 21:33767720-33767720 + TCGA-AA-3492-01 COSM1413915 c.3905G>A p.R1302H Substitution - Missense 21:33865165-33865165 + Gp5D COSM1030403 c.1078C>T p.R360C Substitution - Missense 21:33772096-33772096 + ME009T COSM224071 c.337C>T p.P113S Substitution - Missense 21:33735195-33735195 + C32 COSM3771142 c.4380G>A p.P1460P Substitution - coding silent 21:33882281-33882281 + TCGA-AN-A046-01 COSM3841845 c.4542A>C p.K1514N Substitution - Missense 21:33882443-33882443 + TCGA-HU-A4GN-01 COSM4101416 c.3155C>T p.S1052F Substitution - Missense 21:33823625-33823625 + S02242 COSM5677317 c.3887_3890+3delTAAAGTA p.? Unknown 21:33858789-33858795 + LUAD-CHTN-MAD06-00668 COSM359737 c.3230A>C p.E1077A Substitution - Missense 21:33829624-33829624 + TCGA-AD-6964-01 COSM725235 c.2488C>T p.R830C Substitution - Missense 21:33811143-33811143 + pfg008T COSM1641456 c.3219delA p.K1075fs*26 Deletion - Frameshift 21:33826853-33826853 + T2269 COSM2844166 c.3679C>A p.L1227I Substitution - Missense 21:33856753-33856753 + TCGA-D9-A6EA-06 COSM4398110 c.2713C>T p.P905S Substitution - Missense 21:33814058-33814058 + LIM2551 COSM4644332 c.3712C>T p.R1238* Substitution - Nonsense 21:33856786-33856786 + LUAD-B00523 COSM355571 c.4847A>G p.K1616R Substitution - Missense 21:33886290-33886290 + RKO COSM2844093 c.656A>G p.Q219R Substitution - Missense 21:33755329-33755329 + TCGA-EE-A182-06 COSM3912047 c.3918C>G p.S1306S Substitution - coding silent 21:33865178-33865178 + LPJ114 COSM1316605 c.4819G>A p.E1607K Substitution - Missense 21:33885498-33885498 + CLL081 COSM1291174 c.5122G>A p.E1708K Substitution - Missense 21:33888256-33888256 + 3N59-VS-3T59 COSM3841832 c.2183-1G>A p.? Unknown 21:33799807-33799807 + CSCC-20-T COSM4543471 c.3380G>T p.W1127L Substitution - Missense 21:33834335-33834335 + TCGA-EE-A2MU-06 COSM3550459 c.4853A>G p.N1618S Substitution - Missense 21:33886296-33886296 + TCGA-CZ-5456-01 COSM478542 c.122-1G>T p.? Unknown 21:33722587-33722587 + T2940 COSM4693664 c.3711G>A p.K1237K Substitution - coding silent 21:33856785-33856785 + 56 COSM5013645 c.1984G>A p.E662K Substitution - Missense 21:33797410-33797410 + LUAD-F00121 COSM365784 c.451C>T p.P151S Substitution - Missense 21:33750247-33750247 + TCGA-EE-A2GR-06 COSM3550463 c.5068G>A p.G1690S Substitution - Missense 21:33888202-33888202 + 2492712 COSM5718818 c.4254C>T p.S1418S Substitution - coding silent 21:33875434-33875434 + HCC056T COSM5816176 c.2239G>C p.A747P Substitution - Missense 21:33799864-33799864 + PD6366a COSM1030395 c.68C>T p.A23V Substitution - Missense 21:33721217-33721217 + YUROC COSM5392849 c.3226C>T p.P1076S Substitution - Missense 21:33826860-33826860 + HT-29 COSM1681948 c.5033C>T p.T1678M Substitution - Missense 21:33888167-33888167 + PT37 COSM175181 c.934C>T p.R312* Substitution - Nonsense 21:33767720-33767720 + TCGA-FW-A3R5-06 COSM3912044 c.2473C>T p.P825S Substitution - Missense 21:33811128-33811128 + DLD1 COSM2844157 c.3310C>T p.R1104* Substitution - Nonsense 21:33829704-33829704 + KYSE-410 COSM4439726 c.2412C>T p.I804I Substitution - coding silent 21:33811067-33811067 + BK0015 COSM4185924 c.2021G>C p.R674T Substitution - Missense 21:33797447-33797447 + DLD1 COSM1681945 c.835T>A p.F279I Substitution - Missense 21:33765921-33765921 + LIM2551 COSM2844089 c.466delC p.L158fs*37 Deletion - Frameshift 21:33750262-33750262 + AOCS-058-1-5 COSM4137225 c.2258C>T p.S753F Substitution - Missense 21:33799883-33799883 + T16 COSM5343736 c.3070C>A p.Q1024K Substitution - Missense 21:33823540-33823540 + 19 COSM5748215 c.1133A>G p.K378R Substitution - Missense 21:33772151-33772151 + 2492722 COSM4549850 c.4844G>A p.G1615E Substitution - Missense 21:33886287-33886287 + TCGA-D3-A1QB-06 COSM3550422 c.157T>A p.L53I Substitution - Missense 21:33722623-33722623 + PD14453a COSM5777196 c.2182+7G>A p.? Unknown 21:33797615-33797615 + 2734_T COSM3963937 c.1616G>T p.G539V Substitution - Missense 21:33781480-33781480 + 587222 COSM1211179 c.935G>A p.R312Q Substitution - Missense 21:33767721-33767721 + TCGA-AZ-4315-01 COSM1413918 c.4478C>T p.T1493M Substitution - Missense 21:33882379-33882379 + TCGA-AX-A05Z-01 COSM1030408 c.2041A>C p.K681Q Substitution - Missense 21:33797467-33797467 + TCGA-06-0211 COSM2150806 c.2319G>A p.W773* Substitution - Nonsense 21:33802444-33802444 + PASKAY COSM5006129 c.2559C>A p.F853L Substitution - Missense 21:33811214-33811214 + KYSE-450 COSM2844113 c.2005G>A p.E669K Substitution - Missense 21:33797431-33797431 + PD22360a COSM5784244 c.1977G>T p.Q659H Substitution - Missense 21:33797403-33797403 + Pat_41_B COSM5858564 c.2509G>A p.A837T Substitution - Missense 21:33811164-33811164 + YULAN COSM1713952 c.4556C>T p.P1519L Substitution - Missense 21:33883551-33883551 + 2492723 COSM4549850 c.4844G>A p.G1615E Substitution - Missense 21:33886287-33886287 + CDGLIV0707A0251_T COSM5041409 c.374C>G p.P125R Substitution - Missense 21:33750170-33750170 + TCGA-AC-A23H-01 COSM3841829 c.1762G>A p.E588K Substitution - Missense 21:33782071-33782071 + T3091 COSM4693659 c.2564C>A p.S855Y Substitution - Missense 21:33811219-33811219 + ATL020 COSM5707547 c.3997T>A p.C1333S Substitution - Missense 21:33865257-33865257 + TCGA-BR-6452-01 COSM4101418 c.4297C>A p.L1433M Substitution - Missense 21:33875477-33875477 + S02292 COSM5687871 c.3831G>T p.E1277D Substitution - Missense 21:33858733-33858733 + T595 COSM2844163 c.3493G>A p.D1165N Substitution - Missense 21:33836464-33836464 + TCGA-HT-8114-01 COSM3972759 c.2535G>A p.T845T Substitution - coding silent 21:33811190-33811190 + TCGA-AA-3870-01 COSM296301 c.3993C>A p.R1331R Substitution - coding silent 21:33865253-33865253 + TCGA-06-0188-01 COSM3405375 c.3792A>G p.Q1264Q Substitution - coding silent 21:33858694-33858694 + LUAD-S00484 COSM342970 c.1193G>C p.R398P Substitution - Missense 21:33772211-33772211 + TCGA-AP-A059-01 COSM1030404 c.1102C>T p.R368* Substitution - Nonsense 21:33772120-33772120 + TCGA-B5-A0JY-01 COSM1030416 c.3345G>A p.E1115E Substitution - coding silent 21:33829739-33829739 + I2L-P26-Tumor-Organoid COSM5366281 c.1166C>T p.A389V Substitution - Missense 21:33772184-33772184 + 8044832 COSM1158230 c.4379C>T p.P1460L Substitution - Missense 21:33882280-33882280 + CX-1 COSM1681948 c.5033C>T p.T1678M Substitution - Missense 21:33888167-33888167 + Gp5D COSM2844190 c.4920C>A p.N1640K Substitution - Missense 21:33886363-33886363 + TCGA-EI-6512-01 COSM3423934 c.3016+1G>T p.? Unknown 21:33819324-33819324 + TCGA-HU-A4GU-01 COSM4101409 c.2489G>A p.R830H Substitution - Missense 21:33811144-33811144 + TCGA-BR-8487-01 COSM4101414 c.3073C>T p.Q1025* Substitution - Nonsense 21:33823543-33823543 + KYSE-180 COSM4439723 c.1172A>T p.Q391L Substitution - Missense 21:33772190-33772190 + PTC-14C COSM4134904 c.238A>G p.I80V Substitution - Missense 21:33735096-33735096 + TCGA-AP-A054-01 COSM1030400 c.563C>G p.S188C Substitution - Missense 21:33751846-33751846 + LC_S11 COSM1190340 c.645G>A p.W215* Substitution - Nonsense 21:33755318-33755318 + HRA19 COSM4637852 c.487C>A p.P163T Substitution - Missense 21:33750283-33750283 + TCGA-D1-A103-01 COSM1030421 c.4424A>G p.N1475S Substitution - Missense 21:33882325-33882325 + TCGA-EB-A431-01 COSM3550457 c.4459C>T p.L1487F Substitution - Missense 21:33882360-33882360 + ESCC_BICR_002T COSM5440785 c.3142G>A p.G1048R Substitution - Missense 21:33823612-33823612 + ICGC_MB70 COSM3670252 c.5072C>G p.S1691C Substitution - Missense 21:33888206-33888206 + TCGA-06-0211-02 COSM2150806 c.2319G>A p.W773* Substitution - Nonsense 21:33802444-33802444 + TCGA-EE-A3AA-06 COSM3550433 c.1832G>A p.R611K Substitution - Missense 21:33794348-33794348 + TCGA-60-2722-01 COSM725238 c.996A>G p.E332E Substitution - coding silent 21:33767782-33767782 + T2769 COSM2844113 c.2005G>A p.E669K Substitution - Missense 21:33797431-33797431 + 0082_CRUK_PC_0082_T1_DNA COSM4421015 c.29-1G>A p.? Unknown 21:33721177-33721177 + TCGA-04-1519-01 COSM82201 c.4743C>T p.R1581R Substitution - coding silent 21:33885107-33885107 + DN110CD COSM5779934 c.2567+4C>T p.? Unknown 21:33811226-33811226 + PT21_2 COSM5902156 c.3947G>A p.G1316E Substitution - Missense 21:33865207-33865207 + TCGA-F5-6814-01 COSM3423928 c.1032G>T p.K344N Substitution - Missense 21:33767818-33767818 + Pat_28_B COSM5858561 c.2384G>A p.W795* Substitution - Nonsense 21:33811039-33811039 + TCGA-EK-A3GK-01 COSM4852836 c.1687G>C p.D563H Substitution - Missense 21:33781996-33781996 + TCGA-B4-5834-01 COSM1495183 c.506T>C p.L169P Substitution - Missense 21:33750302-33750302 + YUMOBER COSM5392841 c.487C>T p.P163S Substitution - Missense 21:33750283-33750283 + YUMER COSM1713951 c.2539C>T p.P847S Substitution - Missense 21:33811194-33811194 + J30_T COSM3963945 c.4350G>T p.V1450V Substitution - coding silent 21:33882251-33882251 + 296_T COSM3963943 c.4253C>G p.S1418C Substitution - Missense 21:33875433-33875433 + pfg143T COSM4765157 c.466_467insC p.L158fs*3 Insertion - Frameshift 21:33750262-33750263 + TCGA-AX-A0J1-01 COSM1030418 c.3918C>T p.S1306S Substitution - coding silent 21:33865178-33865178 + TCGA-AD-6964-01 COSM1413910 c.334G>A p.A112T Substitution - Missense 21:33735192-33735192 + TCGA-BR-8487-01 COSM1158275 c.3972G>A p.P1324P Substitution - coding silent 21:33865232-33865232 + TCGA-D1-A177-01 COSM1030411 c.2690C>T p.T897M Substitution - Missense 21:33814035-33814035 + TCGA-A4-7585-01 COSM3991922 c.4115C>A p.S1372Y Substitution - Missense 21:33867273-33867273 + sysucc-311T COSM5465074 c.4566A>G p.L1522L Substitution - coding silent 21:33883561-33883561 + PCSI_0115_Pa_P COSM1030423 c.5041C>T p.R1681C Substitution - Missense 21:33888175-33888175 + J46_T COSM3963940 c.2567+5G>T p.? Unknown 21:33811227-33811227 + MO_1249 COSM5574011 c.822_823insA p.T275fs*13 Insertion - Frameshift 21:33765908-33765909 + TCGA-AG-A002-01 COSM261472 c.3790C>A p.Q1264K Substitution - Missense 21:33858692-33858692 + B82 COSM1751622 c.5014G>A p.D1672N Substitution - Missense 21:33886457-33886457 + LC_S9 COSM1190952 c.617delT p.V206fs*18 Deletion - Frameshift 21:33751900-33751900 + PR-01-1934 COSM245096 c.1336C>A p.Q446K Substitution - Missense 21:33774759-33774759 + HCC2998 COSM2844166 c.3679C>A p.L1227I Substitution - Missense 21:33856753-33856753 + CHC1717T COSM5348592 c.3225_3226insA p.P1076fs*2 Insertion - Frameshift 21:33826859-33826860 + 587228 COSM1211178 c.1046C>T p.T349M Substitution - Missense 21:33772064-33772064 + HCT-15 COSM1681945 c.835T>A p.F279I Substitution - Missense 21:33765921-33765921 + YURAY COSM175181 c.934C>T p.R312* Substitution - Nonsense 21:33767720-33767720 + TCGA-DD-A4NF-01 COSM4912704 c.1952G>T p.R651I Substitution - Missense 21:33794468-33794468 + HX17T COSM1616041 c.3495C>T p.D1165D Substitution - coding silent 21:33836466-33836466 + TCGA-BR-4361-01 COSM4101406 c.2179G>A p.A727T Substitution - Missense 21:33797605-33797605 + LIM1899 COSM4640315 c.3643A>G p.M1215V Substitution - Missense 21:33836614-33836614 + DLD1 COSM1681947 c.4640G>A p.R1547H Substitution - Missense 21:33883635-33883635 + 8015299 COSM3771142 c.4380G>A p.P1460P Substitution - coding silent 21:33882281-33882281 + PD24190a COSM5780873 c.3180A>G p.S1060S Substitution - coding silent 21:33823650-33823650 + HCC4006ER COSM1685223 c.4969G>A p.E1657K Substitution - Missense 21:33886412-33886412 + PD13162a COSM5779934 c.2567+4C>T p.? Unknown 21:33811226-33811226 + Au2 COSM5599728 c.4206C>T p.D1402D Substitution - coding silent 21:33875386-33875386 + PTC-7C COSM4134907 c.4044T>C p.D1348D Substitution - coding silent 21:33865304-33865304 + sysucc-2026T COSM5461017 c.3991C>T p.R1331C Substitution - Missense 21:33865251-33865251 + TCGA-BL-A13J-01 COSM419248 c.4655G>A p.R1552Q Substitution - Missense 21:33883650-33883650 + Au1 COSM3423936 c.4992C>T p.F1664F Substitution - coding silent 21:33886435-33886435 + CSCC-16-T COSM4449675 c.3000delG p.V1001fs*21 Deletion - Frameshift 21:33819307-33819307 + TCGA-AP-A059-01 COSM1030417 c.3745G>A p.E1249K Substitution - Missense 21:33856819-33856819 + 587332 COSM1211181 c.16A>G p.T6A Substitution - Missense 21:33718844-33718844 + PCSI_0311_Pa_P_526 COSM3785456 c.114C>T p.F38F Substitution - coding silent 21:33721263-33721263 + TCGA-AA-3819-01 COSM270936 c.4069G>T p.V1357F Substitution - Missense 21:33865329-33865329 + TCGA-B5-A11E-01 COSM1030396 c.143T>G p.F48C Substitution - Missense 21:33722609-33722609 + PCSI_0083_Pa_X COSM186079 c.2823C>T p.T941T Substitution - coding silent 21:33818362-33818362 + TCGA-HU-A4GH-01 COSM4101397 c.1725A>G p.K575K Substitution - coding silent 21:33782034-33782034 + LP6007414-DNA_A02 COSM4409654 c.2914C>T p.P972S Substitution - Missense 21:33818453-33818453 + TCGA-D8-A1XQ-01 COSM3841835 c.2369A>G p.K790R Substitution - Missense 21:33811024-33811024 + TCGA-51-4080-01 COSM725237 c.1141G>T p.E381* Substitution - Nonsense 21:33772159-33772159 + 2492703 COSM5599728 c.4206C>T p.D1402D Substitution - coding silent 21:33875386-33875386 + TCGA-AX-A05Z-01 COSM1030405 c.1562T>C p.I521T Substitution - Missense 21:33775074-33775074 + Gp2D COSM1030403 c.1078C>T p.R360C Substitution - Missense 21:33772096-33772096 + TCGA-E2-A14T-01 COSM444400 c.2500G>A p.A834T Substitution - Missense 21:33811155-33811155 + TCGA-61-2109-01 COSM115686 c.3584G>C p.G1195A Substitution - Missense 21:33836555-33836555 + TCGA-18-3409-01 COSM725234 c.3617C>T p.S1206F Substitution - Missense 21:33836588-33836588 + TCGA-B5-A11U-01 COSM1030402 c.849G>A p.M283I Substitution - Missense 21:33765935-33765935 + 3498_T COSM3963934 c.1239G>A p.L413L Substitution - coding silent 21:33772257-33772257 + 94-26795 COSM220728 c.1449A>T p.E483D Substitution - Missense 21:33774872-33774872 + TCGA-DA-A1HV-06 COSM3550465 c.5140G>A p.D1714N Substitution - Missense 21:33888274-33888274 + SNUH_G47_S1 COSM4002011 c.3249C>T p.A1083A Substitution - coding silent 21:33829643-33829643 + PD11372a COSM5792895 c.613G>C p.D205H Substitution - Missense 21:33751896-33751896 + LUAD-F00368 COSM341235 c.4382G>A p.R1461H Substitution - Missense 21:33882283-33882283 + TCGA-ER-A19D-06 COSM3550436 c.2032G>A p.E678K Substitution - Missense 21:33797458-33797458 + ESCC_38 COSM222410 c.3008C>T p.S1003L Substitution - Missense 21:33819315-33819315 + pfg057T COSM4746959 c.2084delA p.G697fs*44 Deletion - Frameshift 21:33797510-33797510 + TCGA-DM-A0XD-01 COSM82201 c.4743C>T p.R1581R Substitution - coding silent 21:33885107-33885107 + TCGA-D1-A177-01 COSM1030410 c.2333delA p.T779fs*11 Deletion - Frameshift 21:33810988-33810988 + ESO-866 COSM1255124 c.3229G>T p.E1077* Substitution - Nonsense 21:33826863-33826863 + SNUH_G16_S1 COSM4002006 c.926+10A>G p.? Unknown 21:33766022-33766022 + TCGA-A5-A0GQ-01 COSM1030403 c.1078C>T p.R360C Substitution - Missense 21:33772096-33772096 + TCGA-AG-A002-01 COSM261471 c.1145G>A p.R382H Substitution - Missense 21:33772163-33772163 + SNUH_G73_S1 COSM4002011 c.3249C>T p.A1083A Substitution - coding silent 21:33829643-33829643 + TCGA-D1-A167-01 COSM1030397 c.333C>T p.S111S Substitution - coding silent 21:33735191-33735191 + TCGA-BC-4073-01 COSM4937069 c.2239G>A p.A747T Substitution - Missense 21:33799864-33799864 + J90_T COSM3963931 c.1214G>C p.R405T Substitution - Missense 21:33772232-33772232 + TCGA-QH-A65Z-01 COSM3972759 c.2535G>A p.T845T Substitution - coding silent 21:33811190-33811190 + 587376 COSM1211186 c.3793A>C p.K1265Q Substitution - Missense 21:33858695-33858695 + 254 COSM3731660 c.1842C>A p.H614Q Substitution - Missense 21:33794358-33794358 + C135 COSM4618097 c.4593C>A p.T1531T Substitution - coding silent 21:33883588-33883588 + TCGA-AP-A059-01 COSM1030418 c.3918C>T p.S1306S Substitution - coding silent 21:33865178-33865178 + PACA59 COSM1158275 c.3972G>A p.P1324P Substitution - coding silent 21:33865232-33865232 + TCGA-AZ-4615-01 COSM1413911 c.465_466insC p.L158fs*3 Insertion - Frameshift 21:33750261-33750262 + TCGA-GF-A6C9-06 COSM4900372 c.408C>T p.S136S Substitution - coding silent 21:33750204-33750204 + TCGA-AG-3742-01 COSM1566080 c.4036A>C p.K1346Q Substitution - Missense 21:33865296-33865296 + TCGA-G2-A2EJ-01 COSM1307753 c.1240G>C p.E414Q Substitution - Missense 21:33772258-33772258 + HCT15 COSM2844157 c.3310C>T p.R1104* Substitution - Nonsense 21:33829704-33829704 + YUVEME COSM5392851 c.4030C>T p.Q1344* Substitution - Nonsense 21:33865290-33865290 + PT49 COSM5936668 c.3329G>A p.G1110E Substitution - Missense 21:33829723-33829723 + CSCC-57-T COSM4550702 c.5078G>A p.G1693D Substitution - Missense 21:33888212-33888212 + HCC2998 COSM1681946 c.3875A>C p.N1292T Substitution - Missense 21:33858777-33858777 + T55 COSM4693645 c.1361G>T p.R454M Substitution - Missense 21:33774784-33774784 + 36 COSM5733563 c.5030G>A p.R1677Q Substitution - Missense 21:33888164-33888164 + TCGA-BS-A0UJ-01 COSM1030401 c.756A>G p.S252S Substitution - coding silent 21:33761954-33761954 + TCGA-B5-A0JY-01 COSM1030407 c.2031C>T p.H677H Substitution - coding silent 21:33797457-33797457 + T3090 COSM4693656 c.2532C>A p.S844S Substitution - coding silent 21:33811187-33811187 + 2492720 COSM4549850 c.4844G>A p.G1615E Substitution - Missense 21:33886287-33886287 + AOCS-093-3-6 COSM4137230 c.5163G>A p.P1721P Substitution - coding silent 21:33888297-33888297 + PD11757a COSM5770205 c.2880G>C p.W960C Substitution - Missense 21:33818419-33818419 + TCGA-EE-A3J4-06 COSM3550461 c.4902G>A p.T1634T Substitution - coding silent 21:33886345-33886345 + RKO COSM2844138 c.2772G>A p.W924* Substitution - Nonsense 21:33818311-33818311 + TCGA-21-1081-01 COSM725235 c.2488C>T p.R830C Substitution - Missense 21:33811143-33811143 + TCGA-BH-A0B6-01 COSM3841832 c.2183-1G>A p.? Unknown 21:33799807-33799807 + ME002T COSM222410 c.3008C>T p.S1003L Substitution - Missense 21:33819315-33819315 + TCGA-AP-A0LM-01 COSM1030419 c.4068C>T p.F1356F Substitution - coding silent 21:33865328-33865328 + HCC85T COSM1616040 c.3005delT p.S1003fs*19 Deletion - Frameshift 21:33819312-33819312 + S02292 COSM5687873 c.4083A>G p.A1361A Substitution - coding silent 21:33867241-33867241 + DLBCL-PatientL COSM220441 c.2084A>G p.E695G Substitution - Missense 21:33797510-33797510 + TCGA-AP-A056-01 COSM1030395 c.68C>T p.A23V Substitution - Missense 21:33721217-33721217 + I2L-P19Ta-Tumor-Organoid COSM1413911 c.465_466insC p.L158fs*3 Insertion - Frameshift 21:33750261-33750262 + 8067246 COSM3771139 c.2891C>G p.S964C Substitution - Missense 21:33818430-33818430 + PT49 COSM5936670 c.3340G>A p.G1114R Substitution - Missense 21:33829734-33829734 + CSCC-10-T COSM4491373 c.3799C>T p.L1267L Substitution - coding silent 21:33858701-33858701 + TCGA-AM-5821-01 COSM3693775 c.2079C>T p.G693G Substitution - coding silent 21:33797505-33797505 + TCGA-F4-6570-01 COSM1413916 c.4157C>A p.P1386Q Substitution - Missense 21:33867315-33867315 + CHC1594T COSM4805015 c.3905G>T p.R1302L Substitution - Missense 21:33865165-33865165 + TCGA-DK-A1A3-01 COSM419249 c.1652A>G p.Q551R Substitution - Missense 21:33781516-33781516 + I2L-P7-Tumor-Organoid COSM5366316 c.2483C>T p.A828V Substitution - Missense 21:33811138-33811138 + 2492713 COSM5718818 c.4254C>T p.S1418S Substitution - coding silent 21:33875434-33875434 + TCGA-AA-A010-01 COSM282031 c.1249C>T p.R417W Substitution - Missense 21:33772267-33772267 + 2492721 COSM4549850 c.4844G>A p.G1615E Substitution - Missense 21:33886287-33886287 + 2318492 COSM4777030 c.2056G>A p.E686K Substitution - Missense 21:33797482-33797482 + 587332 COSM1211182 c.4207C>G p.H1403D Substitution - Missense 21:33875387-33875387 + CRC-23T COSM5482602 c.3492C>T p.Y1164Y Substitution - coding silent 21:33836463-33836463 + TCGA-CC-A1HT-01 COSM4928370 c.3480G>A p.V1160V Substitution - coding silent 21:33836451-33836451 + LUAD-2GUGK COSM400610 c.1306G>T p.A436S Substitution - Missense 21:33774729-33774729 + TCGA-AA-A01X-01 COSM300378 c.4453G>A p.D1485N Substitution - Missense 21:33882354-33882354 + T1154 COSM4693666 c.4181delA p.N1395fs*12 Deletion - Frameshift 21:33875361-33875361 + TCGA-D1-A103-01 COSM1030415 c.3293G>A p.G1098D Substitution - Missense 21:33829687-33829687 + TCGA-F5-6814-01 COSM3423931 c.1382G>T p.R461I Substitution - Missense 21:33774805-33774805 + PACA-59-T COSM1158275 c.3972G>A p.P1324P Substitution - coding silent 21:33865232-33865232 + TCGA-AX-A05Z-01 COSM1030406 c.1786A>C p.K596Q Substitution - Missense 21:33782095-33782095 + OSCC-GB_00630111 COSM4885106 c.2393C>A p.A798E Substitution - Missense 21:33811048-33811048 + EGC10 COSM5057574 c.4901C>T p.T1634M Substitution - Missense 21:33886344-33886344 + B21 COSM1751620 c.2399A>G p.Y800C Substitution - Missense 21:33811054-33811054 + Pat_66_A COSM5858569 c.4810G>A p.E1604K Substitution - Missense 21:33885489-33885489 + YUKAT COSM5392853 c.4312G>A p.A1438T Substitution - Missense 21:33875492-33875492 + EGC8 COSM5057570 c.1186C>T p.R396C Substitution - Missense 21:33772204-33772204 + OSCC-GB_01100111 COSM4888476 c.4887C>A p.C1629* Substitution - Nonsense 21:33886330-33886330 + TCGA-AZ-4315-01 COSM725235 c.2488C>T p.R830C Substitution - Missense 21:33811143-33811143 + GB07 COSM1743586 c.3680T>C p.L1227P Substitution - Missense 21:33856754-33856754 + TCGA-A8-A0A6-01 COSM3841841 c.2730T>G p.G910G Substitution - coding silent 21:33818269-33818269 + LUAD-YINHD COSM350255 c.3295C>G p.Q1099E Substitution - Missense 21:33829689-33829689 + TCGA-A8-A0A6-01 COSM3841826 c.888A>C p.P296P Substitution - coding silent 21:33765974-33765974 + TP_2064 COSM5563645 c.1108C>T p.Q370* Substitution - Nonsense 21:33772126-33772126 + TCGA-28-1753-01 COSM1158230 c.4379C>T p.P1460L Substitution - Missense 21:33882280-33882280 + HT29 COSM1681948 c.5033C>T p.T1678M Substitution - Missense 21:33888167-33888167 + ESO-171 COSM1255123 c.649G>T p.V217F Substitution - Missense 21:33755322-33755322 + TCGA-EB-A41A-01 COSM3550449 c.3670G>A p.D1224N Substitution - Missense 21:33856744-33856744 + EGC8 COSM1030417 c.3745G>A p.E1249K Substitution - Missense 21:33856819-33856819 + PD24196a COSM5787221 c.3743C>T p.T1248I Substitution - Missense 21:33856817-33856817 + Pat_46_B COSM175181 c.934C>T p.R312* Substitution - Nonsense 21:33767720-33767720 + B68 COSM1751621 c.4934C>T p.S1645F Substitution - Missense 21:33886377-33886377 + TCGA-D5-6930-01 COSM1413911 c.465_466insC p.L158fs*3 Insertion - Frameshift 21:33750261-33750262 + B82-Tumor COSM1751622 c.5014G>A p.D1672N Substitution - Missense 21:33886457-33886457 + TCGA-CK-5916-01 COSM3693730 c.5112C>T p.V1704V Substitution - coding silent 21:33888246-33888246 + TCGA-41-5651-01 COSM3405377 c.3851A>C p.N1284T Substitution - Missense 21:33858753-33858753 + CHC1594T COSM4805015 c.3905G>T p.R1302L Substitution - Missense 21:33865165-33865165 + TCGA-EE-A3AA-06 COSM3550447 c.3385C>T p.P1129S Substitution - Missense 21:33834340-33834340 + TCGA-CH-5739-01 COSM3673179 c.4189C>A p.P1397T Substitution - Missense 21:33875369-33875369 + TCGA-EI-6917-01 COSM3423936 c.4992C>T p.F1664F Substitution - coding silent 21:33886435-33886435 + T3118 COSM4693650 c.2302A>G p.M768V Substitution - Missense 21:33799927-33799927 + TCGA-G2-A3VY-01 COSM3799874 c.1353G>T p.R451R Substitution - coding silent 21:33774776-33774776 + B68-Tumor COSM1751621 c.4934C>T p.S1645F Substitution - Missense 21:33886377-33886377 + NB1488 COSM5703111 c.4195A>G p.N1399D Substitution - Missense 21:33875375-33875375 + pfg008T COSM1641456 c.3219delA p.K1075fs*26 Deletion - Frameshift 21:33826853-33826853 + TCGA-A5-A0GB-01 COSM1030423 c.5041C>T p.R1681C Substitution - Missense 21:33888175-33888175 + GHE1437 COSM5715153 c.4274G>A p.R1425Q Substitution - Missense 21:33875454-33875454 + TCGA-HU-A4HD-01 COSM4101400 c.1851A>G p.Q617Q Substitution - coding silent 21:33794367-33794367 + YULAN COSM1713953 c.4999G>A p.D1667N Substitution - Missense 21:33886442-33886442 + PD9004a COSM5785874 c.4638C>A p.D1546E Substitution - Missense 21:33883633-33883633 + TCGA-G2-A2EO-01 COSM1307756 c.2385G>A p.W795* Substitution - Nonsense 21:33811040-33811040 + PA285 COSM1163296 c.921T>C p.S307S Substitution - coding silent 21:33766007-33766007 + S02234 COSM5676179 c.3883C>A p.L1295I Substitution - Missense 21:33858785-33858785 + PT52 COSM175181 c.934C>T p.R312* Substitution - Nonsense 21:33767720-33767720 + PCSI_0083_Pa_P COSM186079 c.2823C>T p.T941T Substitution - coding silent 21:33818362-33818362 + B21-Tumor COSM1751620 c.2399A>G p.Y800C Substitution - Missense 21:33811054-33811054 + TCGA-RC-A7S9-01 COSM4940280 c.4857G>A p.P1619P Substitution - coding silent 21:33886300-33886300 + Pat_45_B COSM5858555 c.100C>T p.P34S Substitution - Missense 21:33721249-33721249 + 2492700 COSM5599728 c.4206C>T p.D1402D Substitution - coding silent 21:33875386-33875386 + TCGA-AD-6895-01 COSM1413912 c.1996C>T p.Q666* Substitution - Nonsense 21:33797422-33797422 + 587284 COSM1211183 c.3368G>A p.R1123H Substitution - Missense 21:33834323-33834323 + HCT8 COSM1681947 c.4640G>A p.R1547H Substitution - Missense 21:33883635-33883635 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.160215;Hs.160225;Hs.160228;Hs.160264;Hs.160301;Hs.160324 21q22.1-q22.2 602442

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I1392L c.4174A>C 21 35247658 CM A C Missense p.K197T c.590A>C 21 35124178 LUAD A C Missense p.N1284T c.3851A>C 21 35231057 GBM A - Frameshift p.K1075Nfs*26 c.3225delA 21 35199157 STAD A - Frameshift p.K273Nfs*16 c.819delA 21 35138206 STAD A - Frameshift p.M1515Cfs*8 c.4543delA 21 35254745 RCCC A - Frameshift p.T779Lfs*11 c.2335delA 21 35183292 UCEC AGG - InFrameDeletion p.G1195delG c.3584_3586delGAG 21 35208857 HNSC A G Missense p.I973V c.2917A>G 21 35190760 LUAD A G Missense p.N1618S c.4853A>G 21 35258600 CM A G Missense p.Q551R c.1652A>G 21 35153820 BLCA A T SpliceAcceptorSNV . c.3662-2A>T 21 35229038 LUAD A T SpliceAcceptorSNV . c.624-2A>T 21 35127600 LUSC C A Missense p.Q535K c.1603C>A 21 35153771 RCCC CC AA Missense p.P962Q c.2885_2886delinsAA 21 35190728 CM C G Missense p.R637G c.1909C>G 21 35166729 HNSC C G Missense p.S1691C c.5072C>G 21 35260510 MB C G Missense p.S188C c.563C>G 21 35124151 UCEC C G Missense p.S36C c.107C>G 21 35093561 HNSC C T Missense p.P1129S c.3385C>T 21 35206644 CM C T Missense p.P113S c.337C>T 21 35107500 CM C T Missense p.P138S c.412C>T 21 35122513 UCEC C T Missense p.P1460L c.4379C>T 21 35254584 GBM C T Missense p.P156S c.466C>T 21 35122567 CM C T Missense p.R1425W c.4273C>T 21 35247757 BRCA C T Missense p.R1547C c.4639C>T 21 35255938 BRCA C T Missense p.R360C c.1078C>T 21 35144400 UCEC C T Missense p.R830C c.2488C>T 21 35183447 LUSC C T Missense p.S1003L c.3008C>T 21 35191619 CM C T Missense p.S252L c.755C>T 21 35134257 HC C T Missense p.S753F c.2258C>T 21 35172187 CM C T Missense p.T897M c.2690C>T 21 35186339 UCEC C T Nonsense p.Q529* c.1585C>T 21 35147401 SCLC C T Nonsense p.R312* c.934C>T 21 35140024 CM G A Missense p.A834T c.2500G>A 21 35183459 BRCA G A Missense p.D1485N c.4453G>A 21 35254658 COREAD G A Missense p.D1714N c.5140G>A 21 35260578 CM G A Missense p.E1554K c.4660G>A 21 35255959 LUAD G A Missense p.E1708K c.5122G>A 21 35260560 CLL G A Missense p.E1720K c.5158G>A 21 35260596 LUAD G A Missense p.E628K c.1882G>A 21 35166702 HNSC G A Missense p.E678K c.2032G>A 21 35169762 CM G A Missense p.G1126S c.3376G>A 21 35206635 GBM G A Missense p.G1690S c.5068G>A 21 35260506 CM G A Missense p.M283I c.849G>A 21 35138239 UCEC G A Missense p.R1552Q c.4655G>A 21 35255954 BLCA G A Missense p.R611K c.1832G>A 21 35166652 CM G A Nonsense p.W1039* c.3116G>A 21 35195890 SCLC G A Nonsense p.W773* c.2319G>A 21 35174748 GBM G A Nonsense p.W795* c.2385G>A 21 35183344 BLCA G C Missense p.D1214H c.3640G>C 21 35208915 LUAD G C Missense p.E1173Q c.3517G>C 21 35208792 HNSC G C Missense p.E414Q c.1240G>C 21 35144562 BLCA G C Missense p.E483Q c.1447G>C 21 35147174 BLCA G C Missense p.E643Q c.1927G>C 21 35166747 BLCA G C Missense p.G1195A c.3584G>C 21 35208859 OV G C Missense p.G764A c.2291G>C 21 35172220 LUSC G C Missense p.G787A c.2360G>C 21 35183319 LUAD G C Missense p.G9A c.26G>C 21 35091159 OV G C Missense p.R1335P c.4004G>C 21 35237568 CM G T Missense p.G783C c.2347G>T 21 35183306 LUAD G T Missense p.S978I c.2933G>T 21 35190776 HC G T Missense p.V1357F c.4069G>T 21 35237633 COREAD G T Missense p.V217F c.649G>T 21 35127627 ESCA G T Missense p.W1221L c.3662G>T 21 35229040 LUAD G T Nonsense p.E1077* c.3229G>T 21 35199167 ESCA G T Nonsense p.E381* c.1141G>T 21 35144463 LUSC T A Missense p.L53I c.157T>A 21 35094928 CM T C Missense p.L265P c.794T>C 21 35138184 CM T - Frameshift p.F1050Sfs*6 c.3149delT 21 35195922 PRAD T - Frameshift p.Q50Nfs*9 c.147delT 21 35094910 LGG