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 1 241846794 241846794 + Silent SNP T T C TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr1:241846794T>C c.600T>C c.(598-600)aaT>aaC p.N200N BLCA 1 241904945 241904945 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr1:241904945C>G c.1419C>G c.(1417-1419)atC>atG p.I473M BLCA 1 241907726 241907726 + Missense_Mutation SNP A A G TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr1:241907726A>G c.1472A>G c.(1471-1473)tAc>tGc p.Y491C BLCA 1 241920614 241920614 + Silent SNP G G T TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr1:241920614G>T c.1770G>T c.(1768-1770)gtG>gtT p.V590V BLCA 1 241929556 241929556 + Missense_Mutation SNP G G C TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr1:241929556G>C c.1954G>C c.(1954-1956)Gat>Cat p.D652H BLCA 1 241929606 241929606 + Silent SNP T T C TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr1:241929606T>C c.2004T>C c.(2002-2004)aaT>aaC p.N668N BLCA 1 241946630 241946630 + Silent SNP C C A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr1:241946630C>A c.2622C>A c.(2620-2622)atC>atA p.I874I BLCA 1 241951205 241951205 + Silent SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 g.chr1:241951205C>G c.2730C>G c.(2728-2730)ctC>ctG p.L910L BLCA 1 241951219 241951219 + Missense_Mutation SNP A A G TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr1:241951219A>G c.2744A>G c.(2743-2745)cAg>cGg p.Q915R BLCA 1 241951227 241951227 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:241951227G>T c.2752G>T c.(2752-2754)Gat>Tat p.D918Y BLCA 1 241951227 241951227 + Missense_Mutation SNP G G T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr1:241951227G>T c.2752G>T c.(2752-2754)Gat>Tat p.D918Y BLCA 1 241951319 241951319 + Silent SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr1:241951319G>A c.2844G>A c.(2842-2844)ctG>ctA p.L948L BLCA 1 241953931 241953931 + Missense_Mutation SNP G G A TCGA-XF-AAMR-01A-31D-A42E-08 TCGA-XF-AAMR-10A-01D-A42H-08 g.chr1:241953931G>A c.2900G>A c.(2899-2901)cGc>cAc p.R967H BLCA 1 241964444 241964444 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr1:241964444G>C c.3173G>C c.(3172-3174)aGa>aCa p.R1058T BRCA 1 241823900 241823900 + Missense_Mutation SNP G G C TCGA-A2-A04Y-01A-21W-A050-09 TCGA-A2-A04Y-10A-01W-A055-09 g.chr1:241823900G>C c.214G>C c.(214-216)Gat>Cat p.D72H BRCA 1 241886720 241886720 + Silent SNP C C G TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 g.chr1:241886720C>G c.1146C>G c.(1144-1146)gtC>gtG p.V382V BRCA 1 241912926 241912926 + Nonsense_Mutation SNP G G T TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 g.chr1:241912926G>T c.1642G>T c.(1642-1644)Gag>Tag p.E548* BRCA 1 241912945 241912945 + Missense_Mutation SNP T T G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 g.chr1:241912945T>G c.1661T>G c.(1660-1662)cTc>cGc p.L554R BRCA 1 241932740 241932740 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:241932740G>A c.2086G>A c.(2086-2088)Gac>Aac p.D696N BRCA 1 241936093 241936093 + Splice_Site SNP G G T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 g.chr1:241936093G>T c.e19-1 BRCA 1 241953984 241953984 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 g.chr1:241953984C>G c.2953C>G c.(2953-2955)Ctt>Gtt p.L985V BRCA 1 241959640 241959642 + In_Frame_Del DEL AAG AAG - TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr1:241959640_241959642delAAG c.3130_3132delAAG c.(3130-3132)aagdel p.K1046del BRCA 1 241959652 241959652 + Missense_Mutation SNP G G T TCGA-AR-A24Q-01A-12D-A167-09 TCGA-AR-A24Q-10A-01D-A167-09 g.chr1:241959652G>T c.3142G>T c.(3142-3144)Ggt>Tgt p.G1048C CESC 1 241834403 241834403 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr1:241834403G>T c.304G>T c.(304-306)Gat>Tat p.D102Y CESC 1 241846798 241846798 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr1:241846798T>G c.604T>G c.(604-606)Ttt>Gtt p.F202V CESC 1 241875110 241875110 + Silent SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 g.chr1:241875110C>G c.951C>G c.(949-951)gtC>gtG p.V317V CESC 1 241904939 241904939 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr1:241904939C>T c.1413C>T c.(1411-1413)ctC>ctT p.L471L CESC 1 241920750 241920750 + Nonsense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:241920750C>T c.1906C>T c.(1906-1908)Caa>Taa p.Q636* COAD 1 241823909 241823909 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:241823909C>T c.223C>T c.(223-225)Cgc>Tgc p.R75C COAD 1 241823910 241823910 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:241823910G>A c.224G>A c.(223-225)cGc>cAc p.R75H COAD 1 241834444 241834444 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:241834444C>T c.345C>T c.(343-345)ttC>ttT p.F115F COAD 1 241846791 241846791 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:241846791A>C c.597A>C c.(595-597)gaA>gaC p.E199D COAD 1 241846992 241846992 + Missense_Mutation SNP G G T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr1:241846992G>T c.798G>T c.(796-798)aaG>aaT p.K266N COAD 1 241875126 241875126 + Missense_Mutation SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:241875126C>A c.967C>A c.(967-969)Cca>Aca p.P323T COAD 1 241875162 241875162 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:241875162G>A c.1003G>A c.(1003-1005)Gca>Aca p.A335T COAD 1 241907740 241907740 + Missense_Mutation SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:241907740C>T c.1486C>T c.(1486-1488)Cct>Tct p.P496S COAD 1 241907800 241907800 + Missense_Mutation SNP G G T TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr1:241907800G>T c.1546G>T c.(1546-1548)Gcc>Tcc p.A516S COAD 1 241932789 241932789 + Missense_Mutation SNP G G A TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr1:241932789G>A c.2135G>A c.(2134-2136)cGt>cAt p.R712H COAD 1 241936144 241936144 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr1:241936144C>T c.2311C>T c.(2311-2313)Cac>Tac p.H771Y COAD 1 241936208 241936208 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:241936208G>A c.2375G>A c.(2374-2376)gGa>gAa p.G792E COAD 1 241946597 241946597 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:241946597G>A c.2589G>A c.(2587-2589)tgG>tgA p.W863* COAD 1 241946599 241946599 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr1:241946599G>A c.2591G>A c.(2590-2592)cGt>cAt p.R864H COAD 1 241951170 241951170 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:241951170G>A c.2695G>A c.(2695-2697)Gga>Aga p.G899R COAD 1 241953970 241953970 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:241953970A>C c.2939A>C c.(2938-2940)aAg>aCg p.K980T COAD 1 241958512 241958512 + Nonsense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:241958512C>T c.2971C>T c.(2971-2973)Cga>Tga p.R991* COAD 1 241959601 241959601 + Missense_Mutation SNP G G A TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr1:241959601G>A c.3091G>A c.(3091-3093)Gta>Ata p.V1031I COAD 1 241964454 241964455 + Frame_Shift_Ins INS - - A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:241964454_241964455insA c.3183_3184insA c.(3184-3186)aaafs p.K1062fs COAD 1 241964463 241964463 + Missense_Mutation SNP T T A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:241964463T>A c.3192T>A c.(3190-3192)aaT>aaA p.N1064K COADREAD 1 241823909 241823909 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:241823909C>T c.223C>T c.(223-225)Cgc>Tgc p.R75C COADREAD 1 241823910 241823910 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:241823910G>A c.224G>A c.(223-225)cGc>cAc p.R75H COADREAD 1 241834420 241834420 + Silent SNP G G A TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr1:241834420G>A c.321G>A c.(319-321)caG>caA p.Q107Q COADREAD 1 241834444 241834444 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:241834444C>T c.345C>T c.(343-345)ttC>ttT p.F115F COADREAD 1 241846791 241846791 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:241846791A>C c.597A>C c.(595-597)gaA>gaC p.E199D COADREAD 1 241846992 241846992 + Missense_Mutation SNP G G T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr1:241846992G>T c.798G>T c.(796-798)aaG>aaT p.K266N COADREAD 1 241850792 241850792 + Missense_Mutation SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:241850792T>C c.839T>C c.(838-840)gTt>gCt p.V280A COADREAD 1 241875126 241875126 + Missense_Mutation SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr1:241875126C>A c.967C>A c.(967-969)Cca>Aca p.P323T COADREAD 1 241875162 241875162 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:241875162G>A c.1003G>A c.(1003-1005)Gca>Aca p.A335T COADREAD 1 241886616 241886616 + Missense_Mutation SNP C C T TCGA-AG-3885-01A-01W-0899-10 TCGA-AG-3885-10A-01W-0901-10 g.chr1:241886616C>T c.1042C>T c.(1042-1044)Cgg>Tgg p.R348W COADREAD 1 241901737 241901737 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:241901737G>A c.1237G>A c.(1237-1239)Gac>Aac p.D413N COADREAD 1 241907740 241907740 + Missense_Mutation SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:241907740C>T c.1486C>T c.(1486-1488)Cct>Tct p.P496S COADREAD 1 241907800 241907800 + Missense_Mutation SNP G G T TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr1:241907800G>T c.1546G>T c.(1546-1548)Gcc>Tcc p.A516S COADREAD 1 241912880 241912880 + Silent SNP G G C TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr1:241912880G>C c.1596G>C c.(1594-1596)ggG>ggC p.G532G COADREAD 1 241929585 241929585 + Missense_Mutation SNP G G C TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr1:241929585G>C c.1983G>C c.(1981-1983)ttG>ttC p.L661F COADREAD 1 241932789 241932789 + Missense_Mutation SNP G G A TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr1:241932789G>A c.2135G>A c.(2134-2136)cGt>cAt p.R712H COADREAD 1 241936144 241936144 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr1:241936144C>T c.2311C>T c.(2311-2313)Cac>Tac p.H771Y COADREAD 1 241936208 241936208 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:241936208G>A c.2375G>A c.(2374-2376)gGa>gAa p.G792E COADREAD 1 241946597 241946597 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:241946597G>A c.2589G>A c.(2587-2589)tgG>tgA p.W863* COADREAD 1 241946599 241946599 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr1:241946599G>A c.2591G>A c.(2590-2592)cGt>cAt p.R864H COADREAD 1 241946640 241946640 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:241946640G>T c.2632G>T c.(2632-2634)Gaa>Taa p.E878* COADREAD 1 241951170 241951170 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:241951170G>A c.2695G>A c.(2695-2697)Gga>Aga p.G899R COADREAD 1 241953970 241953970 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:241953970A>C c.2939A>C c.(2938-2940)aAg>aCg p.K980T COADREAD 1 241958512 241958512 + Nonsense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:241958512C>T c.2971C>T c.(2971-2973)Cga>Tga p.R991* COADREAD 1 241959600 241959600 + Silent SNP C C T TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr1:241959600C>T c.3090C>T c.(3088-3090)ggC>ggT p.G1030G COADREAD 1 241959601 241959601 + Missense_Mutation SNP G G A TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr1:241959601G>A c.3091G>A c.(3091-3093)Gta>Ata p.V1031I COADREAD 1 241964454 241964455 + Frame_Shift_Ins INS - - A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:241964454_241964455insA c.3183_3184insA c.(3184-3186)aaafs p.K1062fs COADREAD 1 241964454 241964455 + Frame_Shift_Ins INS - - A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:241964454_241964455insA c.3183_3184insA c.(3184-3186)aaafs p.K1062fs COADREAD 1 241964463 241964463 + Missense_Mutation SNP T T A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:241964463T>A c.3192T>A c.(3190-3192)aaT>aaA p.N1064K DLBC 1 241842832 241842832 + Nonsense_Mutation SNP C C T TCGA-GS-A9TQ-01A-11D-A382-10 TCGA-GS-A9TQ-10A-01D-A385-10 g.chr1:241842832C>T c.529C>T c.(529-531)Cga>Tga p.R177* ESCA 1 241886718 241886718 + Missense_Mutation SNP G G A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 g.chr1:241886718G>A c.1144G>A c.(1144-1146)Gtc>Atc p.V382I ESCA 1 241934999 241934999 + Splice_Site SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr1:241934999G>T c.2260G>T c.(2260-2262)Ggt>Tgt p.G754C ESCA 1 241943353 241943353 + Missense_Mutation SNP C C T TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chr1:241943353C>T c.2554C>T c.(2554-2556)Cat>Tat p.H852Y ESCA 1 241946598 241946598 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 g.chr1:241946598C>A c.2590C>A c.(2590-2592)Cgt>Agt p.R864S ESCA 1 241951283 241951283 + Missense_Mutation SNP C C A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr1:241951283C>A c.2808C>A c.(2806-2808)agC>agA p.S936R GBM 1 241946599 241946599 + Missense_Mutation SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr1:241946599G>A c.2591G>A c.(2590-2592)cGt>cAt p.R864H GBM 1 241959665 241959665 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 g.chr1:241959665G>A c.3155G>A c.(3154-3156)cGt>cAt p.R1052H GBMLGG 1 241886728 241886728 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr1:241886728C>T c.1154C>T c.(1153-1155)tCc>tTc p.S385F GBMLGG 1 241904950 241904950 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:241904950C>A c.1424C>A c.(1423-1425)tCt>tAt p.S475Y GBMLGG 1 241946599 241946599 + Missense_Mutation SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr1:241946599G>A c.2591G>A c.(2590-2592)cGt>cAt p.R864H GBMLGG 1 241959665 241959665 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 g.chr1:241959665G>A c.3155G>A c.(3154-3156)cGt>cAt p.R1052H HNSC 1 241850813 241850813 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 g.chr1:241850813C>T c.860C>T c.(859-861)tCa>tTa p.S287L HNSC 1 241953918 241953918 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 g.chr1:241953918C>G c.2887C>G c.(2887-2889)Cta>Gta p.L963V HNSC 1 241958516 241958516 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 g.chr1:241958516G>C c.2975G>C c.(2974-2976)aGa>aCa p.R992T KIPAN 1 241823862 241823862 + Nonsense_Mutation SNP C C A TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr1:241823862C>A c.176C>A c.(175-177)tCg>tAg p.S59* KIPAN 1 241875161 241875161 + Silent SNP G G A TCGA-B0-5097-01A-01D-1421-08 TCGA-B0-5097-11A-01D-1421-08 g.chr1:241875161G>A c.1002G>A c.(1000-1002)aaG>aaA p.K334K KIPAN 1 241886621 241886621 + Missense_Mutation SNP G G T TCGA-BP-5198-01A-01D-1429-08 TCGA-BP-5198-11A-01D-1429-08 g.chr1:241886621G>T c.1047G>T c.(1045-1047)ttG>ttT p.L349F KIPAN 1 241959614 241959614 + Missense_Mutation SNP A A G TCGA-2Z-A9JI-01A-11D-A42J-10 TCGA-2Z-A9JI-10A-01D-A42M-10 g.chr1:241959614A>G c.3104A>G c.(3103-3105)aAg>aGg p.K1035R KIRC 1 241875161 241875161 + Silent SNP G G A TCGA-B0-5097-01A-01D-1421-08 TCGA-B0-5097-11A-01D-1421-08 g.chr1:241875161G>A c.1002G>A c.(1000-1002)aaG>aaA p.K334K KIRC 1 241886621 241886621 + Missense_Mutation SNP G G T TCGA-BP-5198-01A-01D-1429-08 TCGA-BP-5198-11A-01D-1429-08 g.chr1:241886621G>T c.1047G>T c.(1045-1047)ttG>ttT p.L349F KIRP 1 241823862 241823862 + Nonsense_Mutation SNP C C A TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr1:241823862C>A c.176C>A c.(175-177)tCg>tAg p.S59* KIRP 1 241959614 241959614 + Missense_Mutation SNP A A G TCGA-2Z-A9JI-01A-11D-A42J-10 TCGA-2Z-A9JI-10A-01D-A42M-10 g.chr1:241959614A>G c.3104A>G c.(3103-3105)aAg>aGg p.K1035R LAML 1 241912982 241912982 + Silent SNP G G C TCGA-AB-2936-03A-01W-0745-08 TCGA-AB-2936-11A-01W-0745-08 g.chr1:241912982G>C c.1698G>C c.(1696-1698)ctG>ctC p.L566L LGG 1 241886728 241886728 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr1:241886728C>T c.1154C>T c.(1153-1155)tCc>tTc p.S385F LGG 1 241904950 241904950 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:241904950C>A c.1424C>A c.(1423-1425)tCt>tAt p.S475Y LIHC 1 241875143 241875143 + Frame_Shift_Del DEL T T - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr1:241875143delT c.984delT c.(982-984)actfs p.T328fs LIHC 1 241875158 241875158 + Silent SNP T T G TCGA-2Y-A9HB-01A-11D-A38X-10 TCGA-2Y-A9HB-10A-01D-A38X-10 g.chr1:241875158T>G c.999T>G c.(997-999)gtT>gtG p.V333V LIHC 1 241886642 241886642 + Silent SNP C C A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr1:241886642C>A c.1068C>A c.(1066-1068)acC>acA p.T356T LIHC 1 241904820 241904820 + Missense_Mutation SNP T T A TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr1:241904820T>A c.1294T>A c.(1294-1296)Tct>Act p.S432T LIHC 1 241912886 241912886 + Silent SNP G G A TCGA-DD-AADS-01A-11D-A40R-10 TCGA-DD-AADS-10A-01D-A40U-10 g.chr1:241912886G>A c.1602G>A c.(1600-1602)gaG>gaA p.E534E LIHC 1 241920625 241920625 + Missense_Mutation SNP T T C TCGA-3K-AAZ8-01A-12D-A38X-10 TCGA-3K-AAZ8-10A-01D-A38X-10 g.chr1:241920625T>C c.1781T>C c.(1780-1782)cTg>cCg p.L594P LIHC 1 241936138 241936138 + Frame_Shift_Del DEL A A - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr1:241936138delA c.2305delA c.(2305-2307)aaafs p.K770fs LIHC 1 241946598 241946598 + Missense_Mutation SNP C C T TCGA-CC-5259-01A-31D-A20W-10 TCGA-CC-5259-10A-01D-A20W-10 g.chr1:241946598C>T c.2590C>T c.(2590-2592)Cgt>Tgt p.R864C LIHC 1 241958512 241958512 + Nonsense_Mutation SNP C C T TCGA-2Y-A9GU-01A-11D-A382-10 TCGA-2Y-A9GU-10A-01D-A385-10 g.chr1:241958512C>T c.2971C>T c.(2971-2973)Cga>Tga p.R991* LUAD 1 241850794 241850794 + Missense_Mutation SNP A A G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr1:241850794A>G c.841A>G c.(841-843)Atg>Gtg p.M281V LUAD 1 241886621 241886621 + Missense_Mutation SNP G G T TCGA-55-8615-01A-11D-2393-08 TCGA-55-8615-10A-01D-2393-08 g.chr1:241886621G>T c.1047G>T c.(1045-1047)ttG>ttT p.L349F LUAD 1 241886637 241886637 + Missense_Mutation SNP A A G TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr1:241886637A>G c.1063A>G c.(1063-1065)Agc>Ggc p.S355G LUAD 1 241886720 241886720 + Silent SNP C C A TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chr1:241886720C>A c.1146C>A c.(1144-1146)gtC>gtA p.V382V LUAD 1 241886722 241886722 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr1:241886722G>T c.1148G>T c.(1147-1149)aGc>aTc p.S383I LUAD 1 241886730 241886730 + Missense_Mutation SNP T T A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr1:241886730T>A c.1156T>A c.(1156-1158)Tct>Act p.S386T LUAD 1 241901781 241901781 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr1:241901781G>C c.1281G>C c.(1279-1281)atG>atC p.M427I LUAD 1 241901785 241901785 + Missense_Mutation SNP A A G TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr1:241901785A>G c.1285A>G c.(1285-1287)Att>Gtt p.I429V LUAD 1 241904851 241904851 + Missense_Mutation SNP G G C TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr1:241904851G>C c.1325G>C c.(1324-1326)aGg>aCg p.R442T LUAD 1 241904880 241904880 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr1:241904880C>A c.1354C>A c.(1354-1356)Cac>Aac p.H452N LUAD 1 241904891 241904891 + Missense_Mutation SNP A A C TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr1:241904891A>C c.1365A>C c.(1363-1365)gaA>gaC p.E455D LUAD 1 241904910 241904910 + Missense_Mutation SNP C C G TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr1:241904910C>G c.1384C>G c.(1384-1386)Ctt>Gtt p.L462V LUAD 1 241904916 241904916 + Missense_Mutation SNP A A C TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr1:241904916A>C c.1390A>C c.(1390-1392)Aac>Cac p.N464H LUAD 1 241907701 241907701 + Nonsense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr1:241907701G>T c.1447G>T c.(1447-1449)Gaa>Taa p.E483* LUAD 1 241907716 241907716 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr1:241907716C>A c.1462C>A c.(1462-1464)Ctc>Atc p.L488I LUAD 1 241912881 241912881 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr1:241912881C>A c.1597C>A c.(1597-1599)Cag>Aag p.Q533K LUAD 1 241913018 241913018 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr1:241913018G>T c.1734G>T c.(1732-1734)atG>atT p.M578I LUAD 1 241920756 241920756 + Missense_Mutation SNP A A G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr1:241920756A>G c.1912A>G c.(1912-1914)Act>Gct p.T638A LUAD 1 241929585 241929585 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr1:241929585G>T c.1983G>T c.(1981-1983)ttG>ttT p.L661F LUAD 1 241929587 241929587 + Missense_Mutation SNP T T C TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 g.chr1:241929587T>C c.1985T>C c.(1984-1986)aTa>aCa p.I662T LUAD 1 241943305 241943305 + Splice_Site SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr1:241943305G>C c.e21-1 LUAD 1 241946635 241946635 + Missense_Mutation SNP T T A TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chr1:241946635T>A c.2627T>A c.(2626-2628)gTa>gAa p.V876E LUAD 1 241946679 241946679 + Missense_Mutation SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr1:241946679G>C c.2671G>C c.(2671-2673)Gta>Cta p.V891L LUAD 1 241958535 241958535 + Silent SNP C C T TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr1:241958535C>T c.2994C>T c.(2992-2994)ttC>ttT p.F998F LUAD 1 241959664 241959664 + Missense_Mutation SNP C C A TCGA-17-Z044-01A-01W-0746-08 TCGA-17-Z044-11A-01W-0746-08 g.chr1:241959664C>A c.3154C>A c.(3154-3156)Cgt>Agt p.R1052S LUSC 1 241886653 241886653 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:241886653G>A c.1079G>A c.(1078-1080)gGg>gAg p.G360E LUSC 1 241886728 241886728 + Missense_Mutation SNP C C A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr1:241886728C>A c.1154C>A c.(1153-1155)tCc>tAc p.S385Y LUSC 1 241901755 241901755 + Missense_Mutation SNP A A C TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr1:241901755A>C c.1255A>C c.(1255-1257)Atg>Ctg p.M419L LUSC 1 241901793 241901793 + Splice_Site SNP T T C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr1:241901793T>C c.e10+2 LUSC 1 241904845 241904845 + Missense_Mutation SNP T T C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr1:241904845T>C c.1319T>C c.(1318-1320)tTg>tCg p.L440S LUSC 1 241912978 241912978 + Missense_Mutation SNP A A T TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr1:241912978A>T c.1694A>T c.(1693-1695)cAg>cTg p.Q565L LUSC 1 241929537 241929537 + Silent SNP A A G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr1:241929537A>G c.1935A>G c.(1933-1935)ttA>ttG p.L645L LUSC 1 241953957 241953957 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:241953957G>A c.2926G>A c.(2926-2928)Gaa>Aaa p.E976K LUSC 1 241964483 241964483 + Missense_Mutation SNP T T A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr1:241964483T>A c.3212T>A c.(3211-3213)cTg>cAg p.L1071Q OV 1 241904878 241904878 + Missense_Mutation SNP C C G TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 g.chr1:241904878C>G c.1352C>G c.(1351-1353)cCt>cGt p.P451R OV 1 241904937 241904947 + Frame_Shift_Del DEL CTCACTATCTG CTCACTATCTG - TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 g.chr1:241904937_241904947delCTCACTATCTG c.1411_1421delCTCACTATCTG c.(1411-1422)ctcactatctgcfs p.LTIC471fs OV 1 241929595 241929595 + Missense_Mutation SNP G G A TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 g.chr1:241929595G>A c.1993G>A c.(1993-1995)Gga>Aga p.G665R PAAD 1 241959584 241959584 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:241959584T>G c.3074T>G c.(3073-3075)tTt>tGt p.F1025C PAAD 1 241959665 241959665 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:241959665G>A c.3155G>A c.(3154-3156)cGt>cAt p.R1052H PCPG 1 241886684 241886684 + Silent SNP C C T TCGA-QT-A5XO-01A-11D-A35D-08 TCGA-QT-A5XO-10A-01D-A35B-08 g.chr1:241886684C>T c.1110C>T c.(1108-1110)gcC>gcT p.A370A PRAD 1 241904837 241904837 + Missense_Mutation SNP G G A TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 g.chr1:241904837G>A c.1311G>A c.(1309-1311)atG>atA p.M437I PRAD 1 241912941 241912941 + Missense_Mutation SNP C C T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 g.chr1:241912941C>T c.1657C>T c.(1657-1659)Cgc>Tgc p.R553C PRAD 1 241946665 241946665 + Missense_Mutation SNP C C G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 g.chr1:241946665C>G c.2657C>G c.(2656-2658)tCc>tGc p.S886C READ 1 241834420 241834420 + Silent SNP G G A TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr1:241834420G>A c.321G>A c.(319-321)caG>caA p.Q107Q READ 1 241850792 241850792 + Missense_Mutation SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:241850792T>C c.839T>C c.(838-840)gTt>gCt p.V280A READ 1 241886616 241886616 + Missense_Mutation SNP C C T TCGA-AG-3885-01A-01W-0899-10 TCGA-AG-3885-10A-01W-0901-10 g.chr1:241886616C>T c.1042C>T c.(1042-1044)Cgg>Tgg p.R348W READ 1 241901737 241901737 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:241901737G>A c.1237G>A c.(1237-1239)Gac>Aac p.D413N READ 1 241912880 241912880 + Silent SNP G G C TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr1:241912880G>C c.1596G>C c.(1594-1596)ggG>ggC p.G532G READ 1 241929585 241929585 + Missense_Mutation SNP G G C TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr1:241929585G>C c.1983G>C c.(1981-1983)ttG>ttC p.L661F READ 1 241946640 241946640 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:241946640G>T c.2632G>T c.(2632-2634)Gaa>Taa p.E878* READ 1 241959600 241959600 + Silent SNP C C T TCGA-AG-3742-01A-11D-1657-10 TCGA-AG-3742-11A-01D-1657-10 g.chr1:241959600C>T c.3090C>T c.(3088-3090)ggC>ggT p.G1030G READ 1 241964454 241964455 + Frame_Shift_Ins INS - - A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:241964454_241964455insA c.3183_3184insA c.(3184-3186)aaafs p.K1062fs SARC 1 241907737 241907737 + Nonsense_Mutation SNP G G T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 g.chr1:241907737G>T c.1483G>T c.(1483-1485)Gaa>Taa p.E495* SARC 1 241938503 241938503 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:241938503G>A c.2497G>A c.(2497-2499)Gga>Aga p.G833R SKCM 1 241886654 241886654 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:241886654G>A c.1080G>A c.(1078-1080)ggG>ggA p.G360G SKCM 1 241901671 241901671 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr1:241901671C>T c.1171C>T c.(1171-1173)Cgg>Tgg p.R391W SKCM 1 241904893 241904893 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr1:241904893G>A c.1367G>A c.(1366-1368)cGa>cAa p.R456Q SKCM 1 241904917 241904917 + Missense_Mutation SNP A A G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 g.chr1:241904917A>G c.1391A>G c.(1390-1392)aAc>aGc p.N464S SKCM 1 241907714 241907714 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:241907714G>A c.1460G>A c.(1459-1461)gGg>gAg p.G487E SKCM 1 241907749 241907749 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:241907749T>G c.1495T>G c.(1495-1497)Ttc>Gtc p.F499V SKCM 1 241907818 241907818 + Splice_Site SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:241907818G>A c.1564G>A c.(1564-1566)Gga>Aga p.G522R SKCM 1 241912906 241912906 + Missense_Mutation SNP G G A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr1:241912906G>A c.1622G>A c.(1621-1623)gGg>gAg p.G541E SKCM 1 241929524 241929524 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr1:241929524C>T c.1922C>T c.(1921-1923)cCc>cTc p.P641L SKCM 1 241953905 241953905 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:241953905G>A c.2874G>A c.(2872-2874)atG>atA p.M958I SKCM 1 241958551 241958551 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:241958551G>A c.3010G>A c.(3010-3012)Gag>Aag p.E1004K SKCM 1 241959637 241959637 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr1:241959637G>A c.3127G>A c.(3127-3129)Gga>Aga p.G1043R SKCM 1 241964441 241964441 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:241964441G>A c.3170G>A c.(3169-3171)cGa>cAa p.R1057Q SKCM 1 241964447 241964447 + Missense_Mutation SNP G G A TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr1:241964447G>A c.3176G>A c.(3175-3177)aGa>aAa p.R1059K SKCM 1 241964494 241964494 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:241964494T>G c.3223T>G c.(3223-3225)Ttc>Gtc p.F1075V SKCM 1 241964495 241964495 + Missense_Mutation SNP T T C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:241964495T>C c.3224T>C c.(3223-3225)tTc>tCc p.F1075S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 241951205 241951205 single base substitution C G 3_prime_UTR_variant BLCA-US 1 241951205 241951205 single base substitution C G downstream_gene_variant BLCA-US 1 241951205 241951205 single base substitution C G exon_variant BLCA-US 1 241951205 241951205 single base substitution C G synonymous_variant L388L 1164C>G BLCA-US 1 241951205 241951205 single base substitution C G synonymous_variant L514L 1542C>G BLCA-US 1 241951205 241951205 single base substitution C G synonymous_variant L743L 2229C>G BLCA-US 1 241951205 241951205 single base substitution C G synonymous_variant L910L 2730C>G BLCA-US 1 241951319 241951319 single base substitution G A 3_prime_UTR_variant BLCA-US 1 241951319 241951319 single base substitution G A downstream_gene_variant BLCA-US 1 241951319 241951319 single base substitution G A exon_variant BLCA-US 1 241951319 241951319 single base substitution G A synonymous_variant L426L 1278G>A BLCA-US 1 241951319 241951319 single base substitution G A synonymous_variant L552L 1656G>A BLCA-US 1 241951319 241951319 single base substitution G A synonymous_variant L781L 2343G>A BLCA-US 1 241951319 241951319 single base substitution G A synonymous_variant L948L 2844G>A BLCA-US 1 241964444 241964444 single base substitution G C 3_prime_UTR_variant BLCA-US 1 241964444 241964444 single base substitution G C downstream_gene_variant BLCA-US 1 241964444 241964444 single base substitution G C missense_variant R1058T 3173G>C BLCA-US 1 241964444 241964444 single base substitution G C missense_variant R536T 1607G>C BLCA-US 1 241964444 241964444 single base substitution G C missense_variant R662T 1985G>C BLCA-US 1 241964444 241964444 single base substitution G C missense_variant R891T 2672G>C BOCA-FR 1 241811790 241811790 single base substitution A T upstream_gene_variant BOCA-FR 1 241931024 241931024 single base substitution C A intron_variant BOCA-FR 1 241931024 241931024 single base substitution C A upstream_gene_variant BRCA-EU 1 241810898 241810898 single base substitution G A upstream_gene_variant BRCA-EU 1 241811010 241811010 single base substitution T G upstream_gene_variant BRCA-EU 1 241811721 241811721 single base substitution C T upstream_gene_variant BRCA-EU 1 241811773 241811773 single base substitution G A upstream_gene_variant BRCA-EU 1 241812058 241812058 single base substitution C A upstream_gene_variant BRCA-EU 1 241812534 241812534 single base substitution G T upstream_gene_variant BRCA-EU 1 241812670 241812670 single base substitution C T upstream_gene_variant BRCA-EU 1 241812683 241812683 single base substitution C A upstream_gene_variant BRCA-EU 1 241814634 241814634 single base substitution G A upstream_gene_variant BRCA-EU 1 241815801 241815801 single base substitution G A exon_variant BRCA-EU 1 241815801 241815801 single base substitution G A synonymous_variant K5K 15G>A BRCA-EU 1 241815810 241815810 single base substitution T C exon_variant BRCA-EU 1 241815810 241815810 single base substitution T C synonymous_variant R8R 24T>C BRCA-EU 1 241815951 241815951 single base substitution G A intron_variant BRCA-EU 1 241816300 241816300 single base substitution G T intron_variant BRCA-EU 1 241816598 241816598 single base substitution G C intron_variant BRCA-EU 1 241817007 241817007 single base substitution G A intron_variant BRCA-EU 1 241817067 241817067 single base substitution G C intron_variant BRCA-EU 1 241817077 241817077 single base substitution C T intron_variant BRCA-EU 1 241817871 241817871 single base substitution C G intron_variant BRCA-EU 1 241818184 241818346 deletion of <=200bp TGTAAATAAATTTTGTGTTTAAACTTGTGTCCTATTCCCAAGATATCTCACTATGTACAGTATATGTAAATATCCCAAAATCTGAAAAAAATCCATAATCTGAAACACTTCTAGTTCGAAGTATTTTGGATAATGGATACTCAAACTCTGTAACCTTTCACTA - intron_variant BRCA-EU 1 241818498 241818498 single base substitution A C intron_variant BRCA-EU 1 241819484 241819484 single base substitution C T intron_variant BRCA-EU 1 241819484 241819484 single base substitution C T upstream_gene_variant BRCA-EU 1 241820312 241820312 single base substitution C A intron_variant BRCA-EU 1 241820312 241820312 single base substitution C A upstream_gene_variant BRCA-EU 1 241820744 241820744 single base substitution C T intron_variant BRCA-EU 1 241820744 241820744 single base substitution C T upstream_gene_variant BRCA-EU 1 241821043 241821045 deletion of <=200bp ACA - intron_variant BRCA-EU 1 241821043 241821045 deletion of <=200bp ACA - upstream_gene_variant BRCA-EU 1 241821045 241821045 single base substitution A T intron_variant BRCA-EU 1 241821045 241821045 single base substitution A T upstream_gene_variant BRCA-EU 1 241821067 241821067 single base substitution C T intron_variant BRCA-EU 1 241821067 241821067 single base substitution C T upstream_gene_variant BRCA-EU 1 241822542 241822542 single base substitution C G intron_variant BRCA-EU 1 241822542 241822542 single base substitution C G upstream_gene_variant BRCA-EU 1 241822766 241822766 single base substitution A G intron_variant BRCA-EU 1 241822766 241822766 single base substitution A G upstream_gene_variant BRCA-EU 1 241824465 241824465 single base substitution T A intron_variant BRCA-EU 1 241825042 241825042 single base substitution G A intron_variant BRCA-EU 1 241825709 241825709 single base substitution G T intron_variant BRCA-EU 1 241825796 241825796 single base substitution G T intron_variant BRCA-EU 1 241826419 241826419 insertion of <=200bp - T intron_variant BRCA-EU 1 241826846 241826846 single base substitution G C intron_variant BRCA-EU 1 241827243 241827243 deletion of <=200bp T - intron_variant BRCA-EU 1 241828222 241828222 single base substitution G C intron_variant BRCA-EU 1 241828395 241828395 single base substitution A T intron_variant BRCA-EU 1 241828945 241828945 single base substitution C G intron_variant BRCA-EU 1 241829451 241829451 single base substitution A T intron_variant BRCA-EU 1 241829706 241829706 single base substitution G T intron_variant BRCA-EU 1 241830527 241830527 single base substitution T G intron_variant BRCA-EU 1 241831404 241831404 single base substitution G A intron_variant BRCA-EU 1 241832305 241832305 single base substitution G A intron_variant BRCA-EU 1 241832742 241832742 single base substitution T A intron_variant BRCA-EU 1 241832802 241832802 single base substitution A T intron_variant BRCA-EU 1 241833294 241833294 single base substitution G C intron_variant BRCA-EU 1 241833371 241833371 single base substitution C G intron_variant BRCA-EU 1 241834110 241834110 single base substitution C T intron_variant BRCA-EU 1 241834470 241834470 single base substitution T C exon_variant BRCA-EU 1 241834470 241834470 single base substitution T C missense_variant L124S 371T>C BRCA-EU 1 241834497 241834497 single base substitution C T intron_variant BRCA-EU 1 241836583 241836583 single base substitution G A intron_variant BRCA-EU 1 241836938 241836938 deletion of <=200bp G - intron_variant BRCA-EU 1 241837054 241837054 single base substitution T G intron_variant BRCA-EU 1 241837952 241837952 single base substitution G T exon_variant BRCA-EU 1 241837952 241837952 single base substitution G T missense_variant R129I 386G>T BRCA-EU 1 241838866 241838866 single base substitution T C intron_variant BRCA-EU 1 241838995 241838995 single base substitution T G intron_variant BRCA-EU 1 241839545 241839545 single base substitution G C exon_variant BRCA-EU 1 241839545 241839545 single base substitution G C intron_variant BRCA-EU 1 241839619 241839619 single base substitution A G exon_variant BRCA-EU 1 241839619 241839619 single base substitution A G intron_variant BRCA-EU 1 241840060 241840060 single base substitution T G downstream_gene_variant BRCA-EU 1 241840060 241840060 single base substitution T G intron_variant BRCA-EU 1 241840127 241840127 single base substitution C T downstream_gene_variant BRCA-EU 1 241840127 241840127 single base substitution C T intron_variant BRCA-EU 1 241841232 241841232 single base substitution A C downstream_gene_variant BRCA-EU 1 241841232 241841232 single base substitution A C intron_variant BRCA-EU 1 241842910 241842910 single base substitution G C downstream_gene_variant BRCA-EU 1 241842910 241842910 single base substitution G C intron_variant BRCA-EU 1 241842910 241842910 single base substitution G C upstream_gene_variant BRCA-EU 1 241843884 241843884 single base substitution C A downstream_gene_variant BRCA-EU 1 241843884 241843884 single base substitution C A intron_variant BRCA-EU 1 241843884 241843884 single base substitution C A upstream_gene_variant BRCA-EU 1 241844206 241844206 single base substitution C G downstream_gene_variant BRCA-EU 1 241844206 241844206 single base substitution C G intron_variant BRCA-EU 1 241844206 241844206 single base substitution C G upstream_gene_variant BRCA-EU 1 241845282 241845282 insertion of <=200bp - T intron_variant BRCA-EU 1 241845282 241845282 insertion of <=200bp - T upstream_gene_variant BRCA-EU 1 241845757 241845757 single base substitution C T intron_variant BRCA-EU 1 241845757 241845757 single base substitution C T upstream_gene_variant BRCA-EU 1 241846267 241846267 single base substitution G A intron_variant BRCA-EU 1 241846267 241846267 single base substitution G A upstream_gene_variant BRCA-EU 1 241847296 241847296 single base substitution A G downstream_gene_variant BRCA-EU 1 241847296 241847296 single base substitution A G intron_variant BRCA-EU 1 241848619 241848619 single base substitution G C downstream_gene_variant BRCA-EU 1 241848619 241848619 single base substitution G C intron_variant BRCA-EU 1 241849858 241849858 single base substitution T A downstream_gene_variant BRCA-EU 1 241849858 241849858 single base substitution T A intron_variant BRCA-EU 1 241850027 241850027 single base substitution A C downstream_gene_variant BRCA-EU 1 241850027 241850027 single base substitution A C intron_variant BRCA-EU 1 241850140 241850140 single base substitution G A downstream_gene_variant BRCA-EU 1 241850140 241850140 single base substitution G A intron_variant BRCA-EU 1 241851175 241851175 single base substitution C G downstream_gene_variant BRCA-EU 1 241851175 241851175 single base substitution C G intron_variant BRCA-EU 1 241852315 241852315 single base substitution C A intron_variant BRCA-EU 1 241853941 241853941 single base substitution T C intron_variant BRCA-EU 1 241854607 241854607 single base substitution A T intron_variant BRCA-EU 1 241854964 241854964 single base substitution T C intron_variant BRCA-EU 1 241857120 241857120 deletion of <=200bp A - intron_variant BRCA-EU 1 241857481 241857481 single base substitution T G intron_variant BRCA-EU 1 241857604 241857604 deletion of <=200bp T - intron_variant BRCA-EU 1 241857659 241857659 single base substitution G A intron_variant BRCA-EU 1 241857990 241857990 single base substitution C G intron_variant BRCA-EU 1 241858918 241858918 single base substitution G C intron_variant BRCA-EU 1 241859492 241859492 insertion of <=200bp - T intron_variant BRCA-EU 1 241859554 241859554 single base substitution C T intron_variant BRCA-EU 1 241859854 241859854 single base substitution G C intron_variant BRCA-EU 1 241860039 241860039 single base substitution C T intron_variant BRCA-EU 1 241860640 241860640 single base substitution C A intron_variant BRCA-EU 1 241861543 241861543 single base substitution G A intron_variant BRCA-EU 1 241862204 241862204 single base substitution G T intron_variant BRCA-EU 1 241863123 241863123 single base substitution G A intron_variant BRCA-EU 1 241863252 241863252 single base substitution C T intron_variant BRCA-EU 1 241864000 241864000 single base substitution A T intron_variant BRCA-EU 1 241864188 241864188 single base substitution G C intron_variant BRCA-EU 1 241864279 241864279 single base substitution G A intron_variant BRCA-EU 1 241865493 241865493 single base substitution C T intron_variant BRCA-EU 1 241866142 241866142 single base substitution C G intron_variant BRCA-EU 1 241866350 241866350 deletion of <=200bp T - intron_variant BRCA-EU 1 241867229 241867229 single base substitution C T intron_variant BRCA-EU 1 241867319 241867319 single base substitution C G intron_variant BRCA-EU 1 241867511 241867511 single base substitution C G intron_variant BRCA-EU 1 241867658 241867658 single base substitution A G intron_variant BRCA-EU 1 241867670 241867670 single base substitution G A intron_variant BRCA-EU 1 241867689 241867689 single base substitution G T intron_variant BRCA-EU 1 241867752 241867752 single base substitution C G intron_variant BRCA-EU 1 241867841 241867841 single base substitution C T intron_variant BRCA-EU 1 241869769 241869769 single base substitution A T intron_variant BRCA-EU 1 241870730 241870730 single base substitution A T intron_variant BRCA-EU 1 241871641 241871641 insertion of <=200bp - T intron_variant BRCA-EU 1 241871764 241871764 single base substitution C A intron_variant BRCA-EU 1 241872488 241872488 single base substitution T G intron_variant BRCA-EU 1 241873251 241873251 deletion of <=200bp A - intron_variant BRCA-EU 1 241875099 241875099 single base substitution T C splice_region_variant BRCA-EU 1 241876429 241876429 single base substitution T G intron_variant BRCA-EU 1 241876562 241876562 single base substitution G A intron_variant BRCA-EU 1 241877200 241877200 single base substitution C T intron_variant BRCA-EU 1 241877774 241877774 single base substitution C T intron_variant BRCA-EU 1 241878451 241878451 single base substitution C G intron_variant BRCA-EU 1 241878754 241878754 single base substitution A G intron_variant BRCA-EU 1 241878895 241878895 single base substitution C G intron_variant BRCA-EU 1 241879030 241879030 single base substitution C A intron_variant BRCA-EU 1 241879179 241879179 single base substitution A C intron_variant BRCA-EU 1 241879239 241879239 single base substitution T C intron_variant BRCA-EU 1 241879847 241879847 single base substitution A G intron_variant BRCA-EU 1 241880014 241880014 single base substitution G T intron_variant BRCA-EU 1 241880177 241880177 single base substitution C T intron_variant BRCA-EU 1 241884577 241884577 single base substitution C G intron_variant BRCA-EU 1 241884664 241884664 single base substitution T A intron_variant BRCA-EU 1 241885393 241885393 single base substitution C G intron_variant BRCA-EU 1 241885716 241885716 single base substitution C T intron_variant BRCA-EU 1 241885725 241885725 single base substitution C T intron_variant BRCA-EU 1 241886778 241886778 single base substitution C T intron_variant BRCA-EU 1 241886988 241886988 single base substitution C T intron_variant BRCA-EU 1 241887028 241887028 single base substitution C T intron_variant BRCA-EU 1 241888437 241888437 single base substitution G C intron_variant BRCA-EU 1 241888514 241888514 single base substitution G A intron_variant BRCA-EU 1 241889570 241889570 deletion of <=200bp T - intron_variant BRCA-EU 1 241890763 241890763 single base substitution C G intron_variant BRCA-EU 1 241891912 241891912 single base substitution C A intron_variant BRCA-EU 1 241892439 241892439 single base substitution C T intron_variant BRCA-EU 1 241892834 241892834 single base substitution T C intron_variant BRCA-EU 1 241892988 241892988 single base substitution T G intron_variant BRCA-EU 1 241893241 241893241 single base substitution C G intron_variant BRCA-EU 1 241893449 241893449 single base substitution C G intron_variant BRCA-EU 1 241893468 241893468 single base substitution C A intron_variant BRCA-EU 1 241894272 241894272 single base substitution C T intron_variant BRCA-EU 1 241894840 241894840 single base substitution A G intron_variant BRCA-EU 1 241895011 241895011 single base substitution A G intron_variant BRCA-EU 1 241895107 241895107 single base substitution A G intron_variant BRCA-EU 1 241895470 241895470 single base substitution G A intron_variant BRCA-EU 1 241895519 241895519 single base substitution A C intron_variant BRCA-EU 1 241896112 241896112 single base substitution A C intron_variant BRCA-EU 1 241896260 241896260 single base substitution G A intron_variant BRCA-EU 1 241897657 241897657 single base substitution C T intron_variant BRCA-EU 1 241898320 241898320 single base substitution A C intron_variant BRCA-EU 1 241898899 241898899 single base substitution C T intron_variant BRCA-EU 1 241899718 241899718 single base substitution A T intron_variant BRCA-EU 1 241900467 241900467 single base substitution C A intron_variant BRCA-EU 1 241900467 241900467 single base substitution C A upstream_gene_variant BRCA-EU 1 241900796 241900796 single base substitution T C intron_variant BRCA-EU 1 241900796 241900796 single base substitution T C upstream_gene_variant BRCA-EU 1 241900940 241900940 single base substitution C G intron_variant BRCA-EU 1 241900940 241900940 single base substitution C G upstream_gene_variant BRCA-EU 1 241901350 241901350 single base substitution G T intron_variant BRCA-EU 1 241901350 241901350 single base substitution G T upstream_gene_variant BRCA-EU 1 241901660 241901660 single base substitution T C splice_region_variant BRCA-EU 1 241901660 241901660 single base substitution T C upstream_gene_variant BRCA-EU 1 241901918 241901918 single base substitution G A intron_variant BRCA-EU 1 241901918 241901918 single base substitution G A upstream_gene_variant BRCA-EU 1 241902324 241902324 single base substitution T G intron_variant BRCA-EU 1 241902324 241902324 single base substitution T G upstream_gene_variant BRCA-EU 1 241903403 241903403 single base substitution C G intron_variant BRCA-EU 1 241903403 241903403 single base substitution C G upstream_gene_variant BRCA-EU 1 241903708 241903708 deletion of <=200bp A - intron_variant BRCA-EU 1 241903708 241903708 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 241904286 241904286 single base substitution T A intron_variant BRCA-EU 1 241904286 241904286 single base substitution T A upstream_gene_variant BRCA-EU 1 241904945 241904945 single base substitution C T exon_variant BRCA-EU 1 241904945 241904945 single base substitution C T synonymous_variant I244I 732C>T BRCA-EU 1 241904945 241904945 single base substitution C T synonymous_variant I473I 1419C>T BRCA-EU 1 241908436 241908436 single base substitution C T intron_variant BRCA-EU 1 241908436 241908436 single base substitution C T upstream_gene_variant BRCA-EU 1 241908477 241908477 single base substitution G A intron_variant BRCA-EU 1 241908477 241908477 single base substitution G A upstream_gene_variant BRCA-EU 1 241908510 241908510 single base substitution A C intron_variant BRCA-EU 1 241908510 241908510 single base substitution A C upstream_gene_variant BRCA-EU 1 241911524 241911524 single base substitution C G intron_variant BRCA-EU 1 241911524 241911524 single base substitution C G upstream_gene_variant BRCA-EU 1 241911979 241911979 single base substitution T C intron_variant BRCA-EU 1 241911979 241911979 single base substitution T C upstream_gene_variant BRCA-EU 1 241912665 241912665 single base substitution C G intron_variant BRCA-EU 1 241912665 241912665 single base substitution C G upstream_gene_variant BRCA-EU 1 241913439 241913439 single base substitution A C intron_variant BRCA-EU 1 241914170 241914170 single base substitution C A intron_variant BRCA-EU 1 241914395 241914395 single base substitution A G intron_variant BRCA-EU 1 241914733 241914733 single base substitution C G intron_variant BRCA-EU 1 241915278 241915278 single base substitution C G intron_variant BRCA-EU 1 241919412 241919412 single base substitution T G intron_variant BRCA-EU 1 241919898 241919898 single base substitution A T intron_variant BRCA-EU 1 241920804 241920804 single base substitution T C intron_variant BRCA-EU 1 241921075 241921075 single base substitution C T intron_variant BRCA-EU 1 241921128 241921128 single base substitution C T intron_variant BRCA-EU 1 241921741 241921741 single base substitution C G intron_variant BRCA-EU 1 241922216 241922216 single base substitution G A intron_variant BRCA-EU 1 241922745 241922745 single base substitution C T intron_variant BRCA-EU 1 241923633 241923633 insertion of <=200bp - AT intron_variant BRCA-EU 1 241923796 241923796 single base substitution A T intron_variant BRCA-EU 1 241925087 241925087 single base substitution C T intron_variant BRCA-EU 1 241925558 241925558 single base substitution C A intron_variant BRCA-EU 1 241925669 241925669 single base substitution T C intron_variant BRCA-EU 1 241925773 241925773 single base substitution G C intron_variant BRCA-EU 1 241926849 241926849 single base substitution A C intron_variant BRCA-EU 1 241926856 241926856 single base substitution A C intron_variant BRCA-EU 1 241927513 241927513 single base substitution G A intron_variant BRCA-EU 1 241927736 241927736 single base substitution C G intron_variant BRCA-EU 1 241928866 241928866 single base substitution G C intron_variant BRCA-EU 1 241928866 241928866 single base substitution G C upstream_gene_variant BRCA-EU 1 241928963 241928963 single base substitution C T intron_variant BRCA-EU 1 241928963 241928963 single base substitution C T upstream_gene_variant BRCA-EU 1 241929541 241929541 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 241929541 241929541 single base substitution C T exon_variant BRCA-EU 1 241929541 241929541 single base substitution C T stop_gained R125* 373C>T BRCA-EU 1 241929541 241929541 single base substitution C T stop_gained R418* 1252C>T BRCA-EU 1 241929541 241929541 single base substitution C T stop_gained R647* 1939C>T BRCA-EU 1 241929541 241929541 single base substitution C T upstream_gene_variant BRCA-EU 1 241930011 241930011 single base substitution A G intron_variant BRCA-EU 1 241930011 241930011 single base substitution A G upstream_gene_variant BRCA-EU 1 241931945 241931945 single base substitution C T intron_variant BRCA-EU 1 241931945 241931945 single base substitution C T upstream_gene_variant BRCA-EU 1 241932285 241932285 single base substitution C G intron_variant BRCA-EU 1 241932285 241932285 single base substitution C G upstream_gene_variant BRCA-EU 1 241932412 241932412 single base substitution A T intron_variant BRCA-EU 1 241932412 241932412 single base substitution A T upstream_gene_variant BRCA-EU 1 241932715 241932715 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 241932715 241932715 single base substitution T C exon_variant BRCA-EU 1 241932715 241932715 single base substitution T C intron_variant BRCA-EU 1 241932715 241932715 single base substitution T C synonymous_variant P165P 495T>C BRCA-EU 1 241932715 241932715 single base substitution T C synonymous_variant P687P 2061T>C BRCA-EU 1 241932715 241932715 single base substitution T C upstream_gene_variant BRCA-EU 1 241933097 241933097 single base substitution G A intron_variant BRCA-EU 1 241933097 241933097 single base substitution G A upstream_gene_variant BRCA-EU 1 241933107 241933107 single base substitution A T intron_variant BRCA-EU 1 241933107 241933107 single base substitution A T upstream_gene_variant BRCA-EU 1 241933279 241933279 deletion of <=200bp T - intron_variant BRCA-EU 1 241933279 241933279 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 241934045 241934045 deletion of <=200bp A - intron_variant BRCA-EU 1 241934315 241934315 single base substitution T C intron_variant BRCA-EU 1 241936919 241936919 single base substitution G A intron_variant BRCA-EU 1 241937597 241937597 single base substitution G C intron_variant BRCA-EU 1 241937717 241937717 single base substitution T C intron_variant BRCA-EU 1 241938221 241938221 single base substitution A G intron_variant BRCA-EU 1 241939001 241939001 single base substitution T G intron_variant BRCA-EU 1 241939332 241939332 single base substitution T C intron_variant BRCA-EU 1 241939355 241939355 single base substitution C A intron_variant BRCA-EU 1 241939505 241939505 single base substitution C T intron_variant BRCA-EU 1 241939614 241939614 single base substitution C T intron_variant BRCA-EU 1 241940082 241940082 single base substitution G A intron_variant BRCA-EU 1 241940142 241940142 single base substitution T C intron_variant BRCA-EU 1 241940878 241940878 single base substitution G A intron_variant BRCA-EU 1 241941196 241941196 single base substitution C T intron_variant BRCA-EU 1 241942554 241942554 insertion of <=200bp - T intron_variant BRCA-EU 1 241942863 241942863 single base substitution C T intron_variant BRCA-EU 1 241943100 241943100 single base substitution C T intron_variant BRCA-EU 1 241943835 241943835 single base substitution C T intron_variant BRCA-EU 1 241944136 241944136 single base substitution A G intron_variant BRCA-EU 1 241944796 241944796 single base substitution G C intron_variant BRCA-EU 1 241945610 241945616 deletion of <=200bp GAGTCCA - intron_variant BRCA-EU 1 241945757 241945757 single base substitution C T intron_variant BRCA-EU 1 241945875 241945875 single base substitution T A intron_variant BRCA-EU 1 241947935 241947935 single base substitution C A intron_variant BRCA-EU 1 241948222 241948222 single base substitution C A intron_variant BRCA-EU 1 241948243 241948243 single base substitution G C intron_variant BRCA-EU 1 241948342 241948342 single base substitution T C intron_variant BRCA-EU 1 241948761 241948761 single base substitution G A intron_variant BRCA-EU 1 241951191 241951191 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 241951191 241951191 single base substitution G A exon_variant BRCA-EU 1 241951191 241951191 single base substitution G A missense_variant G384R 1150G>A BRCA-EU 1 241951191 241951191 single base substitution G A missense_variant G510R 1528G>A BRCA-EU 1 241951191 241951191 single base substitution G A missense_variant G739R 2215G>A BRCA-EU 1 241951191 241951191 single base substitution G A missense_variant G906R 2716G>A BRCA-EU 1 241951515 241951515 single base substitution C T downstream_gene_variant BRCA-EU 1 241951515 241951515 single base substitution C T intron_variant BRCA-EU 1 241952323 241952323 single base substitution C A downstream_gene_variant BRCA-EU 1 241952323 241952323 single base substitution C A intron_variant BRCA-EU 1 241952704 241952704 single base substitution A G downstream_gene_variant BRCA-EU 1 241952704 241952704 single base substitution A G intron_variant BRCA-EU 1 241953787 241953787 single base substitution G T downstream_gene_variant BRCA-EU 1 241953787 241953787 single base substitution G T intron_variant BRCA-EU 1 241954395 241954395 single base substitution C T downstream_gene_variant BRCA-EU 1 241954395 241954395 single base substitution C T intron_variant BRCA-EU 1 241954952 241954952 single base substitution C A downstream_gene_variant BRCA-EU 1 241954952 241954952 single base substitution C A intron_variant BRCA-EU 1 241955825 241955825 single base substitution G A downstream_gene_variant BRCA-EU 1 241955825 241955825 single base substitution G A intron_variant BRCA-EU 1 241956764 241956764 single base substitution C A intron_variant BRCA-EU 1 241957797 241957797 single base substitution A C intron_variant BRCA-EU 1 241960142 241960142 single base substitution C T downstream_gene_variant BRCA-EU 1 241960142 241960142 single base substitution C T intron_variant BRCA-EU 1 241962924 241962924 single base substitution A G downstream_gene_variant BRCA-EU 1 241962924 241962924 single base substitution A G intron_variant BRCA-EU 1 241965129 241965129 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 241965129 241965129 single base substitution G A downstream_gene_variant BRCA-EU 1 241967426 241967426 single base substitution G A downstream_gene_variant BRCA-EU 1 241967957 241967957 single base substitution T C downstream_gene_variant BRCA-EU 1 241967988 241967988 single base substitution A G downstream_gene_variant BRCA-FR 1 241812670 241812670 single base substitution C T upstream_gene_variant BRCA-FR 1 241815951 241815951 single base substitution G A intron_variant BRCA-FR 1 241817007 241817007 single base substitution G A intron_variant BRCA-FR 1 241817871 241817871 single base substitution C G intron_variant BRCA-FR 1 241829451 241829451 single base substitution A T intron_variant BRCA-FR 1 241831404 241831404 single base substitution G A intron_variant BRCA-FR 1 241833371 241833371 single base substitution C G intron_variant BRCA-FR 1 241834464 241834464 single base substitution G A exon_variant BRCA-FR 1 241834464 241834464 single base substitution G A missense_variant R122Q 365G>A BRCA-FR 1 241837054 241837054 single base substitution T G intron_variant BRCA-FR 1 241837952 241837952 single base substitution G T exon_variant BRCA-FR 1 241837952 241837952 single base substitution G T missense_variant R129I 386G>T BRCA-FR 1 241840060 241840060 single base substitution T G downstream_gene_variant BRCA-FR 1 241840060 241840060 single base substitution T G intron_variant BRCA-FR 1 241840127 241840127 single base substitution C T downstream_gene_variant BRCA-FR 1 241840127 241840127 single base substitution C T intron_variant BRCA-FR 1 241846080 241846080 single base substitution C T intron_variant BRCA-FR 1 241846080 241846080 single base substitution C T upstream_gene_variant BRCA-FR 1 241846686 241846686 single base substitution C T intron_variant BRCA-FR 1 241846686 241846686 single base substitution C T upstream_gene_variant BRCA-FR 1 241850027 241850027 single base substitution A C downstream_gene_variant BRCA-FR 1 241850027 241850027 single base substitution A C intron_variant BRCA-FR 1 241854683 241854683 single base substitution G A intron_variant BRCA-FR 1 241858918 241858918 single base substitution G C intron_variant BRCA-FR 1 241862365 241862365 single base substitution G T intron_variant BRCA-FR 1 241866142 241866142 single base substitution C G intron_variant BRCA-FR 1 241867319 241867319 single base substitution C G intron_variant BRCA-FR 1 241870730 241870730 single base substitution A T intron_variant BRCA-FR 1 241871396 241871396 single base substitution C A intron_variant BRCA-FR 1 241878451 241878451 single base substitution C G intron_variant BRCA-FR 1 241878895 241878895 single base substitution C G intron_variant BRCA-FR 1 241885393 241885393 single base substitution C G intron_variant BRCA-FR 1 241888437 241888437 single base substitution G C intron_variant BRCA-FR 1 241892439 241892439 single base substitution C T intron_variant BRCA-FR 1 241895470 241895470 single base substitution G A intron_variant BRCA-FR 1 241900467 241900467 single base substitution C A intron_variant BRCA-FR 1 241900467 241900467 single base substitution C A upstream_gene_variant BRCA-FR 1 241902000 241902000 single base substitution C T intron_variant BRCA-FR 1 241902000 241902000 single base substitution C T upstream_gene_variant BRCA-FR 1 241915278 241915278 single base substitution C G intron_variant BRCA-FR 1 241918425 241918425 single base substitution C T intron_variant BRCA-FR 1 241921075 241921075 single base substitution C T intron_variant BRCA-FR 1 241921323 241921323 single base substitution A C intron_variant BRCA-FR 1 241926849 241926849 single base substitution A C intron_variant BRCA-FR 1 241932285 241932285 single base substitution C G intron_variant BRCA-FR 1 241932285 241932285 single base substitution C G upstream_gene_variant BRCA-FR 1 241933097 241933097 single base substitution G A intron_variant BRCA-FR 1 241933097 241933097 single base substitution G A upstream_gene_variant BRCA-FR 1 241939614 241939614 single base substitution C T intron_variant BRCA-FR 1 241940082 241940082 single base substitution G A intron_variant BRCA-FR 1 241948970 241948970 single base substitution C T intron_variant BRCA-FR 1 241949136 241949136 single base substitution G T intron_variant BRCA-FR 1 241959780 241959780 single base substitution C T downstream_gene_variant BRCA-FR 1 241959780 241959780 single base substitution C T intron_variant BRCA-FR 1 241967426 241967426 single base substitution G A downstream_gene_variant BRCA-FR 1 241967813 241967813 single base substitution G C downstream_gene_variant BRCA-FR 1 241967957 241967957 single base substitution T C downstream_gene_variant BRCA-FR 1 241968973 241968973 single base substitution T A downstream_gene_variant BRCA-UK 1 241810898 241810898 single base substitution G A upstream_gene_variant BRCA-UK 1 241819593 241819593 single base substitution G C intron_variant BRCA-UK 1 241819593 241819593 single base substitution G C upstream_gene_variant BRCA-UK 1 241829327 241829327 single base substitution C G intron_variant BRCA-UK 1 241856247 241856247 single base substitution C G intron_variant BRCA-UK 1 241869293 241869293 single base substitution C T intron_variant BRCA-UK 1 241870008 241870008 single base substitution C T intron_variant BRCA-UK 1 241870375 241870375 single base substitution C T intron_variant BRCA-UK 1 241871764 241871764 single base substitution C A intron_variant BRCA-UK 1 241875099 241875099 single base substitution T C splice_region_variant BRCA-UK 1 241886988 241886988 single base substitution C T intron_variant BRCA-UK 1 241901918 241901918 single base substitution G A intron_variant BRCA-UK 1 241901918 241901918 single base substitution G A upstream_gene_variant BRCA-UK 1 241902899 241902899 single base substitution C T intron_variant BRCA-UK 1 241902899 241902899 single base substitution C T upstream_gene_variant BRCA-UK 1 241908510 241908510 single base substitution A C intron_variant BRCA-UK 1 241908510 241908510 single base substitution A C upstream_gene_variant BRCA-UK 1 241914733 241914733 single base substitution C G intron_variant BRCA-UK 1 241920608 241920608 single base substitution C T 3_prime_UTR_variant BRCA-UK 1 241920608 241920608 single base substitution C T exon_variant BRCA-UK 1 241920608 241920608 single base substitution C T synonymous_variant L359L 1077C>T BRCA-UK 1 241920608 241920608 single base substitution C T synonymous_variant L588L 1764C>T BRCA-UK 1 241920608 241920608 single base substitution C T synonymous_variant L66L 198C>T BRCA-UK 1 241921741 241921741 single base substitution C G intron_variant BRCA-UK 1 241922216 241922216 single base substitution G A intron_variant BRCA-UK 1 241929541 241929541 single base substitution C T 3_prime_UTR_variant BRCA-UK 1 241929541 241929541 single base substitution C T exon_variant BRCA-UK 1 241929541 241929541 single base substitution C T stop_gained R125* 373C>T BRCA-UK 1 241929541 241929541 single base substitution C T stop_gained R418* 1252C>T BRCA-UK 1 241929541 241929541 single base substitution C T stop_gained R647* 1939C>T BRCA-UK 1 241929541 241929541 single base substitution C T upstream_gene_variant BRCA-US 1 241823900 241823900 single base substitution G C exon_variant BRCA-US 1 241823900 241823900 single base substitution G C missense_variant D72H 214G>C BRCA-US 1 241823900 241823900 single base substitution G C upstream_gene_variant BRCA-US 1 241886720 241886720 single base substitution C G exon_variant BRCA-US 1 241886720 241886720 single base substitution C G synonymous_variant V153V 459C>G BRCA-US 1 241886720 241886720 single base substitution C G synonymous_variant V382V 1146C>G BRCA-US 1 241912926 241912926 single base substitution G T exon_variant BRCA-US 1 241912926 241912926 single base substitution G T intron_variant BRCA-US 1 241912926 241912926 single base substitution G T stop_gained E26* 76G>T BRCA-US 1 241912926 241912926 single base substitution G T stop_gained E319* 955G>T BRCA-US 1 241912926 241912926 single base substitution G T stop_gained E548* 1642G>T BRCA-US 1 241912945 241912945 single base substitution T G exon_variant BRCA-US 1 241912945 241912945 single base substitution T G intron_variant BRCA-US 1 241912945 241912945 single base substitution T G missense_variant L325R 974T>G BRCA-US 1 241912945 241912945 single base substitution T G missense_variant L32R 95T>G BRCA-US 1 241912945 241912945 single base substitution T G missense_variant L554R 1661T>G BRCA-US 1 241932740 241932740 single base substitution G A 3_prime_UTR_variant BRCA-US 1 241932740 241932740 single base substitution G A exon_variant BRCA-US 1 241932740 241932740 single base substitution G A intron_variant BRCA-US 1 241932740 241932740 single base substitution G A missense_variant D174N 520G>A BRCA-US 1 241932740 241932740 single base substitution G A missense_variant D696N 2086G>A BRCA-US 1 241932740 241932740 single base substitution G A upstream_gene_variant BRCA-US 1 241936093 241936093 single base substitution G T intron_variant BRCA-US 1 241936093 241936093 single base substitution G T splice_acceptor_variant BRCA-US 1 241953984 241953984 single base substitution C G 3_prime_UTR_variant BRCA-US 1 241953984 241953984 single base substitution C G downstream_gene_variant BRCA-US 1 241953984 241953984 single base substitution C G intron_variant BRCA-US 1 241953984 241953984 single base substitution C G missense_variant L463V 1387C>G BRCA-US 1 241953984 241953984 single base substitution C G missense_variant L589V 1765C>G BRCA-US 1 241953984 241953984 single base substitution C G missense_variant L818V 2452C>G BRCA-US 1 241953984 241953984 single base substitution C G missense_variant L985V 2953C>G BRCA-US 1 241959640 241959642 deletion of <=200bp AAG - 3_prime_UTR_variant BRCA-US 1 241959640 241959642 deletion of <=200bp AAG - downstream_gene_variant BRCA-US 1 241959640 241959642 deletion of <=200bp AAG - inframe_deletion K1044 BRCA-US 1 241959640 241959642 deletion of <=200bp AAG - inframe_deletion K522 BRCA-US 1 241959640 241959642 deletion of <=200bp AAG - inframe_deletion K648 BRCA-US 1 241959640 241959642 deletion of <=200bp AAG - inframe_deletion K877 BRCA-US 1 241959652 241959652 single base substitution G T 3_prime_UTR_variant BRCA-US 1 241959652 241959652 single base substitution G T downstream_gene_variant BRCA-US 1 241959652 241959652 single base substitution G T missense_variant G1048C 3142G>T BRCA-US 1 241959652 241959652 single base substitution G T missense_variant G526C 1576G>T BRCA-US 1 241959652 241959652 single base substitution G T missense_variant G652C 1954G>T BRCA-US 1 241959652 241959652 single base substitution G T missense_variant G881C 2641G>T BTCA-JP 1 241823886 241823886 single base substitution A G exon_variant BTCA-JP 1 241823886 241823886 single base substitution A G missense_variant D67G 200A>G BTCA-JP 1 241823886 241823886 single base substitution A G upstream_gene_variant BTCA-JP 1 241838057 241838057 single base substitution C T splice_region_variant BTCA-JP 1 241838065 241838065 single base substitution T C intron_variant BTCA-JP 1 241850980 241850980 single base substitution T C downstream_gene_variant BTCA-JP 1 241850980 241850980 single base substitution T C intron_variant BTCA-JP 1 241886706 241886706 single base substitution G C exon_variant BTCA-JP 1 241886706 241886706 single base substitution G C missense_variant D149H 445G>C BTCA-JP 1 241886706 241886706 single base substitution G C missense_variant D378H 1132G>C BTCA-JP 1 241904841 241904841 single base substitution C T exon_variant BTCA-JP 1 241904841 241904841 single base substitution C T missense_variant P210S 628C>T BTCA-JP 1 241904841 241904841 single base substitution C T missense_variant P439S 1315C>T BTCA-JP 1 241904841 241904841 single base substitution C T upstream_gene_variant BTCA-JP 1 241907779 241907779 single base substitution G A exon_variant BTCA-JP 1 241907779 241907779 single base substitution G A missense_variant D280N 838G>A BTCA-JP 1 241907779 241907779 single base substitution G A missense_variant D509N 1525G>A BTCA-JP 1 241907860 241907860 single base substitution C T intron_variant BTCA-JP 1 241907860 241907860 single base substitution C T upstream_gene_variant BTCA-JP 1 241932792 241932792 single base substitution C A 3_prime_UTR_variant BTCA-JP 1 241932792 241932792 single base substitution C A exon_variant BTCA-JP 1 241932792 241932792 single base substitution C A intron_variant BTCA-JP 1 241932792 241932792 single base substitution C A missense_variant T191N 572C>A BTCA-JP 1 241932792 241932792 single base substitution C A missense_variant T713N 2138C>A BTCA-JP 1 241932792 241932792 single base substitution C A upstream_gene_variant BTCA-JP 1 241936201 241936201 single base substitution G T 3_prime_UTR_variant BTCA-JP 1 241936201 241936201 single base substitution G T exon_variant BTCA-JP 1 241936201 241936201 single base substitution G T intron_variant BTCA-JP 1 241936201 241936201 single base substitution G T stop_gained E268* 802G>T BTCA-JP 1 241936201 241936201 single base substitution G T stop_gained E790* 2368G>T BTCA-JP 1 241964418 241964418 single base substitution G T downstream_gene_variant BTCA-JP 1 241964418 241964418 single base substitution G T intron_variant BTCA-JP 1 241964461 241964461 single base substitution A C 3_prime_UTR_variant BTCA-JP 1 241964461 241964461 single base substitution A C downstream_gene_variant BTCA-JP 1 241964461 241964461 single base substitution A C missense_variant N1064H 3190A>C BTCA-JP 1 241964461 241964461 single base substitution A C missense_variant N542H 1624A>C BTCA-JP 1 241964461 241964461 single base substitution A C missense_variant N668H 2002A>C BTCA-JP 1 241964461 241964461 single base substitution A C missense_variant N897H 2689A>C CESC-US 1 241834403 241834403 single base substitution G T exon_variant CESC-US 1 241834403 241834403 single base substitution G T missense_variant D102Y 304G>T CESC-US 1 241846798 241846798 single base substitution T G exon_variant CESC-US 1 241846798 241846798 single base substitution T G missense_variant F202V 604T>G CESC-US 1 241846798 241846798 single base substitution T G upstream_gene_variant CESC-US 1 241875110 241875110 single base substitution C G exon_variant CESC-US 1 241875110 241875110 single base substitution C G synonymous_variant V317V 951C>G CESC-US 1 241875110 241875110 single base substitution C G synonymous_variant V88V 264C>G CESC-US 1 241904939 241904939 single base substitution C T exon_variant CESC-US 1 241904939 241904939 single base substitution C T synonymous_variant L242L 726C>T CESC-US 1 241904939 241904939 single base substitution C T synonymous_variant L471L 1413C>T CESC-US 1 241920750 241920750 single base substitution C T 3_prime_UTR_variant CESC-US 1 241920750 241920750 single base substitution C T exon_variant CESC-US 1 241920750 241920750 single base substitution C T stop_gained Q114* 340C>T CESC-US 1 241920750 241920750 single base substitution C T stop_gained Q407* 1219C>T CESC-US 1 241920750 241920750 single base substitution C T stop_gained Q636* 1906C>T CLLE-ES 1 241825002 241825002 single base substitution A G intron_variant CLLE-ES 1 241838792 241838792 single base substitution C G intron_variant CLLE-ES 1 241851671 241851671 single base substitution A G downstream_gene_variant CLLE-ES 1 241851671 241851671 single base substitution A G intron_variant CLLE-ES 1 241878714 241878714 single base substitution C T intron_variant CLLE-ES 1 241887096 241887096 deletion of <=200bp C - intron_variant CLLE-ES 1 241896634 241896634 single base substitution G C intron_variant CLLE-ES 1 241903987 241903987 single base substitution T G intron_variant CLLE-ES 1 241903987 241903987 single base substitution T G upstream_gene_variant CLLE-ES 1 241933648 241933648 single base substitution A T intron_variant CLLE-ES 1 241933648 241933648 single base substitution A T upstream_gene_variant CLLE-ES 1 241947902 241947902 single base substitution A T intron_variant CLLE-ES 1 241948610 241948610 single base substitution G A intron_variant COAD-US 1 241823909 241823909 single base substitution C T exon_variant COAD-US 1 241823909 241823909 single base substitution C T missense_variant R75C 223C>T COAD-US 1 241823909 241823909 single base substitution C T upstream_gene_variant COAD-US 1 241823910 241823910 single base substitution G A exon_variant COAD-US 1 241823910 241823910 single base substitution G A missense_variant R75H 224G>A COAD-US 1 241823910 241823910 single base substitution G A upstream_gene_variant COAD-US 1 241834444 241834444 single base substitution C T exon_variant COAD-US 1 241834444 241834444 single base substitution C T synonymous_variant F115F 345C>T COAD-US 1 241846791 241846791 single base substitution A C missense_variant E199D 597A>C COAD-US 1 241846791 241846791 single base substitution A C splice_region_variant COAD-US 1 241846791 241846791 single base substitution A C upstream_gene_variant COAD-US 1 241846992 241846992 single base substitution G T downstream_gene_variant COAD-US 1 241846992 241846992 single base substitution G T exon_variant COAD-US 1 241846992 241846992 single base substitution G T missense_variant K266N 798G>T COAD-US 1 241846992 241846992 single base substitution G T missense_variant K37N 111G>T COAD-US 1 241929542 241929542 single base substitution G A 3_prime_UTR_variant COAD-US 1 241929542 241929542 single base substitution G A exon_variant COAD-US 1 241929542 241929542 single base substitution G A missense_variant R125Q 374G>A COAD-US 1 241929542 241929542 single base substitution G A missense_variant R418Q 1253G>A COAD-US 1 241929542 241929542 single base substitution G A missense_variant R647Q 1940G>A COAD-US 1 241929542 241929542 single base substitution G A upstream_gene_variant COAD-US 1 241932789 241932789 single base substitution G A 3_prime_UTR_variant COAD-US 1 241932789 241932789 single base substitution G A exon_variant COAD-US 1 241932789 241932789 single base substitution G A intron_variant COAD-US 1 241932789 241932789 single base substitution G A missense_variant R190H 569G>A COAD-US 1 241932789 241932789 single base substitution G A missense_variant R712H 2135G>A COAD-US 1 241932789 241932789 single base substitution G A upstream_gene_variant COAD-US 1 241936144 241936144 single base substitution C T 3_prime_UTR_variant COAD-US 1 241936144 241936144 single base substitution C T exon_variant COAD-US 1 241936144 241936144 single base substitution C T intron_variant COAD-US 1 241936144 241936144 single base substitution C T missense_variant H249Y 745C>T COAD-US 1 241936144 241936144 single base substitution C T missense_variant H771Y 2311C>T COAD-US 1 241936208 241936208 single base substitution G A 3_prime_UTR_variant COAD-US 1 241936208 241936208 single base substitution G A exon_variant COAD-US 1 241936208 241936208 single base substitution G A intron_variant COAD-US 1 241936208 241936208 single base substitution G A missense_variant G270E 809G>A COAD-US 1 241936208 241936208 single base substitution G A missense_variant G792E 2375G>A COAD-US 1 241946597 241946597 single base substitution G A 3_prime_UTR_variant COAD-US 1 241946597 241946597 single base substitution G A exon_variant COAD-US 1 241946597 241946597 single base substitution G A intron_variant COAD-US 1 241946597 241946597 single base substitution G A stop_gained W341* 1023G>A COAD-US 1 241946597 241946597 single base substitution G A stop_gained W467* 1401G>A COAD-US 1 241946597 241946597 single base substitution G A stop_gained W696* 2088G>A COAD-US 1 241946597 241946597 single base substitution G A stop_gained W863* 2589G>A COAD-US 1 241946599 241946599 single base substitution G A 3_prime_UTR_variant COAD-US 1 241946599 241946599 single base substitution G A exon_variant COAD-US 1 241946599 241946599 single base substitution G A intron_variant COAD-US 1 241946599 241946599 single base substitution G A missense_variant R342H 1025G>A COAD-US 1 241946599 241946599 single base substitution G A missense_variant R468H 1403G>A COAD-US 1 241946599 241946599 single base substitution G A missense_variant R697H 2090G>A COAD-US 1 241946599 241946599 single base substitution G A missense_variant R864H 2591G>A COAD-US 1 241951329 241951329 single base substitution C T 3_prime_UTR_variant COAD-US 1 241951329 241951329 single base substitution C T downstream_gene_variant COAD-US 1 241951329 241951329 single base substitution C T exon_variant COAD-US 1 241951329 241951329 single base substitution C T missense_variant R430W 1288C>T COAD-US 1 241951329 241951329 single base substitution C T missense_variant R556W 1666C>T COAD-US 1 241951329 241951329 single base substitution C T missense_variant R785W 2353C>T COAD-US 1 241951329 241951329 single base substitution C T missense_variant R952W 2854C>T COAD-US 1 241959601 241959601 single base substitution G A 3_prime_UTR_variant COAD-US 1 241959601 241959601 single base substitution G A downstream_gene_variant COAD-US 1 241959601 241959601 single base substitution G A missense_variant V1031I 3091G>A COAD-US 1 241959601 241959601 single base substitution G A missense_variant V509I 1525G>A COAD-US 1 241959601 241959601 single base substitution G A missense_variant V635I 1903G>A COAD-US 1 241959601 241959601 single base substitution G A missense_variant V864I 2590G>A COCA-CN 1 241834430 241834430 single base substitution G T exon_variant COCA-CN 1 241834430 241834430 single base substitution G T stop_gained E111* 331G>T COCA-CN 1 241838065 241838065 insertion of <=200bp - C intron_variant COCA-CN 1 241842838 241842838 single base substitution G A downstream_gene_variant COCA-CN 1 241842838 241842838 single base substitution G A exon_variant COCA-CN 1 241842838 241842838 single base substitution G A missense_variant V179I 535G>A COCA-CN 1 241842838 241842838 single base substitution G A upstream_gene_variant COCA-CN 1 241842924 241842924 single base substitution G T downstream_gene_variant COCA-CN 1 241842924 241842924 single base substitution G T intron_variant COCA-CN 1 241842924 241842924 single base substitution G T upstream_gene_variant COCA-CN 1 241886691 241886691 single base substitution G A exon_variant COCA-CN 1 241886691 241886691 single base substitution G A missense_variant V144I 430G>A COCA-CN 1 241886691 241886691 single base substitution G A missense_variant V373I 1117G>A COCA-CN 1 241886718 241886718 single base substitution G A exon_variant COCA-CN 1 241886718 241886718 single base substitution G A missense_variant V153I 457G>A COCA-CN 1 241886718 241886718 single base substitution G A missense_variant V382I 1144G>A COCA-CN 1 241905006 241905006 single base substitution T C intron_variant COCA-CN 1 241907883 241907883 single base substitution C A intron_variant COCA-CN 1 241907883 241907883 single base substitution C A upstream_gene_variant COCA-CN 1 241907986 241907986 single base substitution T C intron_variant COCA-CN 1 241907986 241907986 single base substitution T C upstream_gene_variant COCA-CN 1 241913026 241913026 single base substitution T G splice_donor_variant COCA-CN 1 241929453 241929453 single base substitution C T intron_variant COCA-CN 1 241929453 241929453 single base substitution C T upstream_gene_variant COCA-CN 1 241932567 241932567 single base substitution C G intron_variant COCA-CN 1 241932567 241932567 single base substitution C G upstream_gene_variant COCA-CN 1 241933826 241933826 single base substitution G T exon_variant COCA-CN 1 241933826 241933826 single base substitution G T intron_variant COCA-CN 1 241934940 241934940 single base substitution T C intron_variant COCA-CN 1 241935081 241935081 single base substitution G T intron_variant COCA-CN 1 241935999 241935999 single base substitution A G intron_variant COCA-CN 1 241936216 241936216 single base substitution C T 3_prime_UTR_variant COCA-CN 1 241936216 241936216 single base substitution C T exon_variant COCA-CN 1 241936216 241936216 single base substitution C T intron_variant COCA-CN 1 241936216 241936216 single base substitution C T missense_variant R273C 817C>T COCA-CN 1 241936216 241936216 single base substitution C T missense_variant R795C 2383C>T COCA-CN 1 241943402 241943402 single base substitution G A intron_variant COCA-CN 1 241943423 241943423 single base substitution C A intron_variant COCA-CN 1 241943489 241943489 single base substitution G A intron_variant COCA-CN 1 241946635 241946635 single base substitution T C 3_prime_UTR_variant COCA-CN 1 241946635 241946635 single base substitution T C exon_variant COCA-CN 1 241946635 241946635 single base substitution T C intron_variant COCA-CN 1 241946635 241946635 single base substitution T C missense_variant V354A 1061T>C COCA-CN 1 241946635 241946635 single base substitution T C missense_variant V480A 1439T>C COCA-CN 1 241946635 241946635 single base substitution T C missense_variant V709A 2126T>C COCA-CN 1 241946635 241946635 single base substitution T C missense_variant V876A 2627T>C COCA-CN 1 241946640 241946640 single base substitution G T 3_prime_UTR_variant COCA-CN 1 241946640 241946640 single base substitution G T exon_variant COCA-CN 1 241946640 241946640 single base substitution G T intron_variant COCA-CN 1 241946640 241946640 single base substitution G T stop_gained E356* 1066G>T COCA-CN 1 241946640 241946640 single base substitution G T stop_gained E482* 1444G>T COCA-CN 1 241946640 241946640 single base substitution G T stop_gained E711* 2131G>T COCA-CN 1 241946640 241946640 single base substitution G T stop_gained E878* 2632G>T COCA-CN 1 241951227 241951227 single base substitution G T 3_prime_UTR_variant COCA-CN 1 241951227 241951227 single base substitution G T downstream_gene_variant COCA-CN 1 241951227 241951227 single base substitution G T exon_variant COCA-CN 1 241951227 241951227 single base substitution G T missense_variant D396Y 1186G>T COCA-CN 1 241951227 241951227 single base substitution G T missense_variant D522Y 1564G>T COCA-CN 1 241951227 241951227 single base substitution G T missense_variant D751Y 2251G>T COCA-CN 1 241951227 241951227 single base substitution G T missense_variant D918Y 2752G>T EOPC-DE 1 241879307 241879307 single base substitution G A intron_variant EOPC-DE 1 241912394 241912394 single base substitution T C intron_variant EOPC-DE 1 241912394 241912394 single base substitution T C upstream_gene_variant EOPC-DE 1 241932987 241932987 single base substitution C T intron_variant EOPC-DE 1 241932987 241932987 single base substitution C T upstream_gene_variant EOPC-DE 1 241933876 241933876 single base substitution A G exon_variant EOPC-DE 1 241933876 241933876 single base substitution A G intron_variant EOPC-DE 1 241953521 241953521 single base substitution C T downstream_gene_variant EOPC-DE 1 241953521 241953521 single base substitution C T intron_variant EOPC-DE 1 241959880 241959880 single base substitution C T downstream_gene_variant EOPC-DE 1 241959880 241959880 single base substitution C T intron_variant EOPC-DE 1 241966495 241966495 single base substitution C A downstream_gene_variant ESAD-UK 1 241810704 241810704 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 1 241815098 241815098 single base substitution G T upstream_gene_variant ESAD-UK 1 241815241 241815241 single base substitution A G upstream_gene_variant ESAD-UK 1 241815373 241815373 single base substitution T G upstream_gene_variant ESAD-UK 1 241815741 241815741 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 1 241815785 241815785 single base substitution C A 5_prime_UTR_variant ESAD-UK 1 241816290 241816290 single base substitution T G intron_variant ESAD-UK 1 241816850 241816850 single base substitution T C intron_variant ESAD-UK 1 241816854 241816854 single base substitution T C intron_variant ESAD-UK 1 241817083 241817083 single base substitution G T intron_variant ESAD-UK 1 241817597 241817597 single base substitution G A intron_variant ESAD-UK 1 241820007 241820007 single base substitution A C intron_variant ESAD-UK 1 241820007 241820007 single base substitution A C upstream_gene_variant ESAD-UK 1 241820146 241820146 single base substitution A C intron_variant ESAD-UK 1 241820146 241820146 single base substitution A C upstream_gene_variant ESAD-UK 1 241820313 241820313 single base substitution T G intron_variant ESAD-UK 1 241820313 241820313 single base substitution T G upstream_gene_variant ESAD-UK 1 241820635 241820635 single base substitution A T intron_variant ESAD-UK 1 241820635 241820635 single base substitution A T upstream_gene_variant ESAD-UK 1 241821382 241821382 single base substitution T G intron_variant ESAD-UK 1 241821382 241821382 single base substitution T G upstream_gene_variant ESAD-UK 1 241821756 241821756 single base substitution A C intron_variant ESAD-UK 1 241821756 241821756 single base substitution A C upstream_gene_variant ESAD-UK 1 241822515 241822515 single base substitution C T intron_variant ESAD-UK 1 241822515 241822515 single base substitution C T upstream_gene_variant ESAD-UK 1 241823235 241823235 single base substitution T G intron_variant ESAD-UK 1 241823235 241823235 single base substitution T G upstream_gene_variant ESAD-UK 1 241823403 241823403 single base substitution G A intron_variant ESAD-UK 1 241823403 241823403 single base substitution G A upstream_gene_variant ESAD-UK 1 241824114 241824114 single base substitution T C intron_variant ESAD-UK 1 241824583 241824583 single base substitution A T intron_variant ESAD-UK 1 241824880 241824880 single base substitution A C intron_variant ESAD-UK 1 241825361 241825361 single base substitution A G intron_variant ESAD-UK 1 241825421 241825421 single base substitution A G intron_variant ESAD-UK 1 241826807 241826807 single base substitution G T intron_variant ESAD-UK 1 241827390 241827390 single base substitution T C intron_variant ESAD-UK 1 241828172 241828172 single base substitution T G intron_variant ESAD-UK 1 241828512 241828512 single base substitution A T intron_variant ESAD-UK 1 241828516 241828516 single base substitution A C intron_variant ESAD-UK 1 241828960 241828960 single base substitution A T intron_variant ESAD-UK 1 241829234 241829234 single base substitution A G intron_variant ESAD-UK 1 241829793 241829793 single base substitution T G intron_variant ESAD-UK 1 241831265 241831265 single base substitution A T intron_variant ESAD-UK 1 241833335 241833335 single base substitution C G intron_variant ESAD-UK 1 241833402 241833402 single base substitution C T intron_variant ESAD-UK 1 241833808 241833808 single base substitution C A intron_variant ESAD-UK 1 241835716 241835716 single base substitution C T intron_variant ESAD-UK 1 241837493 241837493 single base substitution C T intron_variant ESAD-UK 1 241837871 241837871 single base substitution A T intron_variant ESAD-UK 1 241837958 241837958 single base substitution G A exon_variant ESAD-UK 1 241837958 241837958 single base substitution G A missense_variant R131Q 392G>A ESAD-UK 1 241839334 241839334 single base substitution A C intron_variant ESAD-UK 1 241839366 241839366 single base substitution T G intron_variant ESAD-UK 1 241839982 241839982 single base substitution G A downstream_gene_variant ESAD-UK 1 241839982 241839982 single base substitution G A intron_variant ESAD-UK 1 241840357 241840357 single base substitution A C downstream_gene_variant ESAD-UK 1 241840357 241840357 single base substitution A C intron_variant ESAD-UK 1 241840414 241840414 single base substitution A T downstream_gene_variant ESAD-UK 1 241840414 241840414 single base substitution A T intron_variant ESAD-UK 1 241841052 241841052 single base substitution T G downstream_gene_variant ESAD-UK 1 241841052 241841052 single base substitution T G intron_variant ESAD-UK 1 241841294 241841294 single base substitution C T downstream_gene_variant ESAD-UK 1 241841294 241841294 single base substitution C T intron_variant ESAD-UK 1 241844317 241844317 single base substitution G C downstream_gene_variant ESAD-UK 1 241844317 241844317 single base substitution G C intron_variant ESAD-UK 1 241844317 241844317 single base substitution G C upstream_gene_variant ESAD-UK 1 241844452 241844452 single base substitution G A downstream_gene_variant ESAD-UK 1 241844452 241844452 single base substitution G A intron_variant ESAD-UK 1 241844452 241844452 single base substitution G A upstream_gene_variant ESAD-UK 1 241844647 241844647 single base substitution C A downstream_gene_variant ESAD-UK 1 241844647 241844647 single base substitution C A intron_variant ESAD-UK 1 241844647 241844647 single base substitution C A upstream_gene_variant ESAD-UK 1 241844786 241844786 single base substitution G C intron_variant ESAD-UK 1 241844786 241844786 single base substitution G C upstream_gene_variant ESAD-UK 1 241844944 241844944 single base substitution A G intron_variant ESAD-UK 1 241844944 241844944 single base substitution A G upstream_gene_variant ESAD-UK 1 241844989 241844989 single base substitution A C intron_variant ESAD-UK 1 241844989 241844989 single base substitution A C upstream_gene_variant ESAD-UK 1 241845050 241845050 single base substitution G C intron_variant ESAD-UK 1 241845050 241845050 single base substitution G C upstream_gene_variant ESAD-UK 1 241846522 241846522 single base substitution G A intron_variant ESAD-UK 1 241846522 241846522 single base substitution G A upstream_gene_variant ESAD-UK 1 241846543 241846543 single base substitution T C intron_variant ESAD-UK 1 241846543 241846543 single base substitution T C upstream_gene_variant ESAD-UK 1 241846829 241846830 deletion of <=200bp TG - exon_variant ESAD-UK 1 241846829 241846830 deletion of <=200bp TG - frameshift_variant L212 ESAD-UK 1 241846829 241846830 deletion of <=200bp TG - upstream_gene_variant ESAD-UK 1 241847744 241847744 single base substitution T C downstream_gene_variant ESAD-UK 1 241847744 241847744 single base substitution T C intron_variant ESAD-UK 1 241847745 241847745 single base substitution G T downstream_gene_variant ESAD-UK 1 241847745 241847745 single base substitution G T intron_variant ESAD-UK 1 241849252 241849252 single base substitution A G downstream_gene_variant ESAD-UK 1 241849252 241849252 single base substitution A G intron_variant ESAD-UK 1 241851216 241851216 single base substitution C A downstream_gene_variant ESAD-UK 1 241851216 241851216 single base substitution C A intron_variant ESAD-UK 1 241851642 241851642 single base substitution T G downstream_gene_variant ESAD-UK 1 241851642 241851642 single base substitution T G intron_variant ESAD-UK 1 241851882 241851882 single base substitution A G downstream_gene_variant ESAD-UK 1 241851882 241851882 single base substitution A G intron_variant ESAD-UK 1 241852005 241852005 single base substitution C T intron_variant ESAD-UK 1 241852503 241852503 single base substitution A G intron_variant ESAD-UK 1 241852609 241852609 insertion of <=200bp - A intron_variant ESAD-UK 1 241853522 241853522 deletion of <=200bp C - intron_variant ESAD-UK 1 241853807 241853807 deletion of <=200bp A - intron_variant ESAD-UK 1 241854396 241854396 single base substitution T G intron_variant ESAD-UK 1 241855333 241855333 single base substitution A T intron_variant ESAD-UK 1 241855334 241855334 single base substitution A T intron_variant ESAD-UK 1 241855792 241855792 single base substitution C T intron_variant ESAD-UK 1 241855958 241855958 single base substitution A T intron_variant ESAD-UK 1 241857248 241857248 single base substitution A G intron_variant ESAD-UK 1 241857311 241857311 single base substitution A C intron_variant ESAD-UK 1 241857672 241857672 single base substitution A G intron_variant ESAD-UK 1 241858572 241858572 deletion of <=200bp A - intron_variant ESAD-UK 1 241861090 241861090 single base substitution C G intron_variant ESAD-UK 1 241861137 241861137 single base substitution T G intron_variant ESAD-UK 1 241861892 241861892 single base substitution T G intron_variant ESAD-UK 1 241862256 241862256 single base substitution A G intron_variant ESAD-UK 1 241862265 241862265 single base substitution T G intron_variant ESAD-UK 1 241862367 241862367 single base substitution A G intron_variant ESAD-UK 1 241862507 241862507 single base substitution A C intron_variant ESAD-UK 1 241862806 241862806 single base substitution G T intron_variant ESAD-UK 1 241863145 241863145 single base substitution A C intron_variant ESAD-UK 1 241863375 241863375 single base substitution A C intron_variant ESAD-UK 1 241864691 241864691 single base substitution C T intron_variant ESAD-UK 1 241865191 241865191 single base substitution A G intron_variant ESAD-UK 1 241865193 241865193 single base substitution T G intron_variant ESAD-UK 1 241865536 241865536 single base substitution C A intron_variant ESAD-UK 1 241865564 241865564 single base substitution G C intron_variant ESAD-UK 1 241865649 241865649 single base substitution T G intron_variant ESAD-UK 1 241866075 241866075 single base substitution G A intron_variant ESAD-UK 1 241867101 241867101 single base substitution T G intron_variant ESAD-UK 1 241867427 241867427 single base substitution A G intron_variant ESAD-UK 1 241868926 241868926 single base substitution G A intron_variant ESAD-UK 1 241869814 241869814 single base substitution C A intron_variant ESAD-UK 1 241869911 241869911 single base substitution G T intron_variant ESAD-UK 1 241870555 241870555 single base substitution C T intron_variant ESAD-UK 1 241871331 241871333 deletion of <=200bp TCT - intron_variant ESAD-UK 1 241872793 241872793 single base substitution A G intron_variant ESAD-UK 1 241873121 241873121 single base substitution A C intron_variant ESAD-UK 1 241874489 241874489 single base substitution A C intron_variant ESAD-UK 1 241874489 241874489 single base substitution A G intron_variant ESAD-UK 1 241874519 241874519 single base substitution A G intron_variant ESAD-UK 1 241875980 241875980 single base substitution T G intron_variant ESAD-UK 1 241876787 241876787 single base substitution G T intron_variant ESAD-UK 1 241877579 241877579 single base substitution A C intron_variant ESAD-UK 1 241877599 241877599 single base substitution T A intron_variant ESAD-UK 1 241877738 241877738 insertion of <=200bp - G intron_variant ESAD-UK 1 241878402 241878402 single base substitution A G intron_variant ESAD-UK 1 241878477 241878477 single base substitution T C intron_variant ESAD-UK 1 241878540 241878540 single base substitution A G intron_variant ESAD-UK 1 241879258 241879258 single base substitution G A intron_variant ESAD-UK 1 241879285 241879285 single base substitution G T intron_variant ESAD-UK 1 241879567 241879567 deletion of <=200bp A - intron_variant ESAD-UK 1 241880507 241880507 single base substitution T C intron_variant ESAD-UK 1 241880507 241880507 single base substitution T G intron_variant ESAD-UK 1 241880936 241880936 single base substitution A G intron_variant ESAD-UK 1 241881140 241881140 single base substitution T C intron_variant ESAD-UK 1 241882163 241882163 single base substitution C A intron_variant ESAD-UK 1 241882217 241882217 single base substitution G A intron_variant ESAD-UK 1 241882587 241882587 single base substitution C G intron_variant ESAD-UK 1 241882829 241882829 single base substitution G T intron_variant ESAD-UK 1 241883213 241883213 single base substitution G A intron_variant ESAD-UK 1 241884161 241884161 single base substitution A C intron_variant ESAD-UK 1 241884366 241884366 single base substitution T C intron_variant ESAD-UK 1 241884922 241884922 single base substitution A C intron_variant ESAD-UK 1 241885754 241885754 single base substitution A G intron_variant ESAD-UK 1 241886927 241886927 single base substitution A G intron_variant ESAD-UK 1 241887378 241887378 single base substitution A T intron_variant ESAD-UK 1 241889350 241889350 single base substitution T A intron_variant ESAD-UK 1 241890305 241890305 single base substitution C T intron_variant ESAD-UK 1 241891283 241891283 single base substitution C T intron_variant ESAD-UK 1 241891526 241891526 single base substitution T G intron_variant ESAD-UK 1 241891911 241891911 single base substitution C A intron_variant ESAD-UK 1 241892752 241892752 insertion of <=200bp - T intron_variant ESAD-UK 1 241892929 241892929 single base substitution A C intron_variant ESAD-UK 1 241892983 241892983 single base substitution T C intron_variant ESAD-UK 1 241893195 241893195 single base substitution A G intron_variant ESAD-UK 1 241893199 241893199 single base substitution T G intron_variant ESAD-UK 1 241893423 241893423 single base substitution G A intron_variant ESAD-UK 1 241893850 241893850 single base substitution T G intron_variant ESAD-UK 1 241893929 241893929 single base substitution T C intron_variant ESAD-UK 1 241894217 241894217 single base substitution T G intron_variant ESAD-UK 1 241895721 241895721 single base substitution T C intron_variant ESAD-UK 1 241895774 241895774 single base substitution T G intron_variant ESAD-UK 1 241896043 241896043 single base substitution A C intron_variant ESAD-UK 1 241896940 241896940 single base substitution T A intron_variant ESAD-UK 1 241897951 241897951 single base substitution G A intron_variant ESAD-UK 1 241898186 241898186 single base substitution A C intron_variant ESAD-UK 1 241899129 241899129 insertion of <=200bp - CTCC intron_variant ESAD-UK 1 241899665 241899665 single base substitution A C intron_variant ESAD-UK 1 241899667 241899667 single base substitution T G intron_variant ESAD-UK 1 241900570 241900570 single base substitution T A intron_variant ESAD-UK 1 241900570 241900570 single base substitution T A upstream_gene_variant ESAD-UK 1 241900740 241900740 single base substitution A C intron_variant ESAD-UK 1 241900740 241900740 single base substitution A C upstream_gene_variant ESAD-UK 1 241901257 241901257 single base substitution C A intron_variant ESAD-UK 1 241901257 241901257 single base substitution C A upstream_gene_variant ESAD-UK 1 241901275 241901275 single base substitution G A intron_variant ESAD-UK 1 241901275 241901275 single base substitution G A upstream_gene_variant ESAD-UK 1 241901424 241901424 single base substitution C A intron_variant ESAD-UK 1 241901424 241901424 single base substitution C A upstream_gene_variant ESAD-UK 1 241901546 241901546 single base substitution A C intron_variant ESAD-UK 1 241901546 241901546 single base substitution A C upstream_gene_variant ESAD-UK 1 241901795 241901795 single base substitution A G splice_region_variant ESAD-UK 1 241901795 241901795 single base substitution A G upstream_gene_variant ESAD-UK 1 241901891 241901891 single base substitution G A intron_variant ESAD-UK 1 241901891 241901891 single base substitution G A upstream_gene_variant ESAD-UK 1 241902291 241902291 single base substitution C T intron_variant ESAD-UK 1 241902291 241902291 single base substitution C T upstream_gene_variant ESAD-UK 1 241902452 241902452 single base substitution G A intron_variant ESAD-UK 1 241902452 241902452 single base substitution G A upstream_gene_variant ESAD-UK 1 241903817 241903817 single base substitution T C intron_variant ESAD-UK 1 241903817 241903817 single base substitution T C upstream_gene_variant ESAD-UK 1 241903932 241903932 single base substitution C T intron_variant ESAD-UK 1 241903932 241903932 single base substitution C T upstream_gene_variant ESAD-UK 1 241904797 241904797 single base substitution A G intron_variant ESAD-UK 1 241904797 241904797 single base substitution A G upstream_gene_variant ESAD-UK 1 241904803 241904803 single base substitution T C intron_variant ESAD-UK 1 241904803 241904803 single base substitution T C upstream_gene_variant ESAD-UK 1 241905785 241905785 single base substitution A C intron_variant ESAD-UK 1 241905950 241905950 single base substitution A C intron_variant ESAD-UK 1 241906141 241906141 single base substitution C A intron_variant ESAD-UK 1 241906484 241906484 single base substitution T A intron_variant ESAD-UK 1 241906981 241906981 single base substitution C A intron_variant ESAD-UK 1 241907140 241907140 single base substitution C A intron_variant ESAD-UK 1 241907479 241907479 single base substitution T C intron_variant ESAD-UK 1 241907536 241907536 single base substitution A G intron_variant ESAD-UK 1 241908475 241908475 single base substitution C A intron_variant ESAD-UK 1 241908475 241908475 single base substitution C A upstream_gene_variant ESAD-UK 1 241908492 241908492 single base substitution T A intron_variant ESAD-UK 1 241908492 241908492 single base substitution T A upstream_gene_variant ESAD-UK 1 241909007 241909007 single base substitution C T intron_variant ESAD-UK 1 241909007 241909007 single base substitution C T upstream_gene_variant ESAD-UK 1 241909067 241909067 single base substitution G T intron_variant ESAD-UK 1 241909067 241909067 single base substitution G T upstream_gene_variant ESAD-UK 1 241909278 241909278 single base substitution C A intron_variant ESAD-UK 1 241909278 241909278 single base substitution C A upstream_gene_variant ESAD-UK 1 241909483 241909483 single base substitution A C intron_variant ESAD-UK 1 241909483 241909483 single base substitution A C upstream_gene_variant ESAD-UK 1 241909590 241909590 single base substitution G T intron_variant ESAD-UK 1 241909590 241909590 single base substitution G T upstream_gene_variant ESAD-UK 1 241909599 241909599 single base substitution T G intron_variant ESAD-UK 1 241909599 241909599 single base substitution T G upstream_gene_variant ESAD-UK 1 241909824 241909824 single base substitution T G intron_variant ESAD-UK 1 241909824 241909824 single base substitution T G upstream_gene_variant ESAD-UK 1 241910404 241910404 single base substitution G T intron_variant ESAD-UK 1 241910404 241910404 single base substitution G T upstream_gene_variant ESAD-UK 1 241910576 241910576 single base substitution G A intron_variant ESAD-UK 1 241910576 241910576 single base substitution G A upstream_gene_variant ESAD-UK 1 241911540 241911540 single base substitution G C intron_variant ESAD-UK 1 241911540 241911540 single base substitution G C upstream_gene_variant ESAD-UK 1 241911587 241911587 single base substitution C T intron_variant ESAD-UK 1 241911587 241911587 single base substitution C T upstream_gene_variant ESAD-UK 1 241912091 241912091 single base substitution A C intron_variant ESAD-UK 1 241912091 241912091 single base substitution A C upstream_gene_variant ESAD-UK 1 241912221 241912221 single base substitution C G intron_variant ESAD-UK 1 241912221 241912221 single base substitution C G upstream_gene_variant ESAD-UK 1 241912434 241912434 single base substitution G C intron_variant ESAD-UK 1 241912434 241912434 single base substitution G C upstream_gene_variant ESAD-UK 1 241912987 241912987 single base substitution T C exon_variant ESAD-UK 1 241912987 241912987 single base substitution T C intron_variant ESAD-UK 1 241912987 241912987 single base substitution T C missense_variant L339P 1016T>C ESAD-UK 1 241912987 241912987 single base substitution T C missense_variant L46P 137T>C ESAD-UK 1 241912987 241912987 single base substitution T C missense_variant L568P 1703T>C ESAD-UK 1 241914235 241914235 single base substitution C T intron_variant ESAD-UK 1 241914323 241914323 single base substitution G T intron_variant ESAD-UK 1 241914788 241914788 single base substitution C T intron_variant ESAD-UK 1 241915116 241915116 single base substitution A C intron_variant ESAD-UK 1 241916033 241916033 single base substitution G A intron_variant ESAD-UK 1 241916519 241916519 single base substitution G T intron_variant ESAD-UK 1 241916639 241916639 single base substitution T A intron_variant ESAD-UK 1 241918272 241918272 single base substitution T C intron_variant ESAD-UK 1 241918770 241918770 deletion of <=200bp T - intron_variant ESAD-UK 1 241919507 241919507 single base substitution T G intron_variant ESAD-UK 1 241919718 241919718 single base substitution C A intron_variant ESAD-UK 1 241919740 241919740 single base substitution T G intron_variant ESAD-UK 1 241919752 241919752 single base substitution T C intron_variant ESAD-UK 1 241919798 241919798 single base substitution C A intron_variant ESAD-UK 1 241920065 241920065 single base substitution C A intron_variant ESAD-UK 1 241920071 241920071 single base substitution A C intron_variant ESAD-UK 1 241920674 241920674 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 241920674 241920674 single base substitution G A exon_variant ESAD-UK 1 241920674 241920674 single base substitution G A synonymous_variant L381L 1143G>A ESAD-UK 1 241920674 241920674 single base substitution G A synonymous_variant L610L 1830G>A ESAD-UK 1 241920674 241920674 single base substitution G A synonymous_variant L88L 264G>A ESAD-UK 1 241920716 241920716 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 241920716 241920716 single base substitution A G exon_variant ESAD-UK 1 241920716 241920716 single base substitution A G synonymous_variant P102P 306A>G ESAD-UK 1 241920716 241920716 single base substitution A G synonymous_variant P395P 1185A>G ESAD-UK 1 241920716 241920716 single base substitution A G synonymous_variant P624P 1872A>G ESAD-UK 1 241920765 241920765 single base substitution A C splice_region_variant ESAD-UK 1 241921168 241921168 single base substitution A G intron_variant ESAD-UK 1 241921327 241921327 single base substitution T C intron_variant ESAD-UK 1 241921367 241921367 single base substitution T C intron_variant ESAD-UK 1 241921910 241921910 single base substitution T G intron_variant ESAD-UK 1 241922361 241922361 single base substitution T C intron_variant ESAD-UK 1 241922519 241922519 deletion of <=200bp T - intron_variant ESAD-UK 1 241922945 241922945 single base substitution T C intron_variant ESAD-UK 1 241923929 241923929 single base substitution A C intron_variant ESAD-UK 1 241924281 241924281 single base substitution G T intron_variant ESAD-UK 1 241924352 241924352 single base substitution A C intron_variant ESAD-UK 1 241924655 241924655 single base substitution C A intron_variant ESAD-UK 1 241925452 241925452 single base substitution T G intron_variant ESAD-UK 1 241925468 241925468 single base substitution G C intron_variant ESAD-UK 1 241925718 241925718 single base substitution C T intron_variant ESAD-UK 1 241925829 241925829 deletion of <=200bp T - intron_variant ESAD-UK 1 241925855 241925855 single base substitution T G intron_variant ESAD-UK 1 241926572 241926572 single base substitution A G intron_variant ESAD-UK 1 241926582 241926582 single base substitution C T intron_variant ESAD-UK 1 241926796 241926796 single base substitution G T intron_variant ESAD-UK 1 241928272 241928272 single base substitution G C intron_variant ESAD-UK 1 241928541 241928541 single base substitution T G intron_variant ESAD-UK 1 241928586 241928586 single base substitution A C intron_variant ESAD-UK 1 241929739 241929739 single base substitution G A intron_variant ESAD-UK 1 241929739 241929739 single base substitution G A upstream_gene_variant ESAD-UK 1 241929787 241929787 single base substitution A G intron_variant ESAD-UK 1 241929787 241929787 single base substitution A G upstream_gene_variant ESAD-UK 1 241930110 241930110 single base substitution T G intron_variant ESAD-UK 1 241930110 241930110 single base substitution T G upstream_gene_variant ESAD-UK 1 241931714 241931714 single base substitution T G intron_variant ESAD-UK 1 241931714 241931714 single base substitution T G upstream_gene_variant ESAD-UK 1 241931918 241931918 single base substitution T G intron_variant ESAD-UK 1 241931918 241931918 single base substitution T G upstream_gene_variant ESAD-UK 1 241932100 241932100 single base substitution A C intron_variant ESAD-UK 1 241932100 241932100 single base substitution A C upstream_gene_variant ESAD-UK 1 241932247 241932247 single base substitution A T intron_variant ESAD-UK 1 241932247 241932247 single base substitution A T upstream_gene_variant ESAD-UK 1 241932713 241932713 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 241932713 241932713 single base substitution C A exon_variant ESAD-UK 1 241932713 241932713 single base substitution C A intron_variant ESAD-UK 1 241932713 241932713 single base substitution C A missense_variant P165T 493C>A ESAD-UK 1 241932713 241932713 single base substitution C A missense_variant P687T 2059C>A ESAD-UK 1 241932713 241932713 single base substitution C A upstream_gene_variant ESAD-UK 1 241933168 241933168 single base substitution T G intron_variant ESAD-UK 1 241933168 241933168 single base substitution T G upstream_gene_variant ESAD-UK 1 241934659 241934659 single base substitution T C intron_variant ESAD-UK 1 241934775 241934775 single base substitution T C intron_variant ESAD-UK 1 241934830 241934830 single base substitution A C intron_variant ESAD-UK 1 241936719 241936719 single base substitution C G intron_variant ESAD-UK 1 241936867 241936867 single base substitution T G intron_variant ESAD-UK 1 241936874 241936874 single base substitution G A intron_variant ESAD-UK 1 241937287 241937287 single base substitution T A intron_variant ESAD-UK 1 241937688 241937688 single base substitution C G intron_variant ESAD-UK 1 241937713 241937713 single base substitution G T intron_variant ESAD-UK 1 241938169 241938169 single base substitution C T intron_variant ESAD-UK 1 241938334 241938334 single base substitution T A intron_variant ESAD-UK 1 241938882 241938882 single base substitution A G intron_variant ESAD-UK 1 241939003 241939003 single base substitution G A intron_variant ESAD-UK 1 241939185 241939185 single base substitution T G intron_variant ESAD-UK 1 241939802 241939802 single base substitution A G intron_variant ESAD-UK 1 241939999 241939999 single base substitution C A intron_variant ESAD-UK 1 241940654 241940654 single base substitution T C intron_variant ESAD-UK 1 241940884 241940884 single base substitution T C intron_variant ESAD-UK 1 241940952 241940952 single base substitution T A intron_variant ESAD-UK 1 241941573 241941573 single base substitution A C intron_variant ESAD-UK 1 241943295 241943295 single base substitution A C intron_variant ESAD-UK 1 241943368 241943368 single base substitution A C splice_region_variant ESAD-UK 1 241943493 241943493 single base substitution T C intron_variant ESAD-UK 1 241943720 241943720 single base substitution T G intron_variant ESAD-UK 1 241944753 241944753 single base substitution C G intron_variant ESAD-UK 1 241945331 241945331 single base substitution G A intron_variant ESAD-UK 1 241945569 241945569 single base substitution A C intron_variant ESAD-UK 1 241945930 241945930 single base substitution C G intron_variant ESAD-UK 1 241945984 241945984 deletion of <=200bp T - intron_variant ESAD-UK 1 241946173 241946173 single base substitution C A intron_variant ESAD-UK 1 241946599 241946599 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 241946599 241946599 single base substitution G A exon_variant ESAD-UK 1 241946599 241946599 single base substitution G A intron_variant ESAD-UK 1 241946599 241946599 single base substitution G A missense_variant R342H 1025G>A ESAD-UK 1 241946599 241946599 single base substitution G A missense_variant R468H 1403G>A ESAD-UK 1 241946599 241946599 single base substitution G A missense_variant R697H 2090G>A ESAD-UK 1 241946599 241946599 single base substitution G A missense_variant R864H 2591G>A ESAD-UK 1 241946937 241946937 deletion of <=200bp T - intron_variant ESAD-UK 1 241946937 241946937 insertion of <=200bp - T intron_variant ESAD-UK 1 241947870 241947870 single base substitution A C intron_variant ESAD-UK 1 241948147 241948147 single base substitution T C intron_variant ESAD-UK 1 241949192 241949192 single base substitution A C intron_variant ESAD-UK 1 241951644 241951644 single base substitution G T downstream_gene_variant ESAD-UK 1 241951644 241951644 single base substitution G T intron_variant ESAD-UK 1 241951950 241951950 single base substitution C T downstream_gene_variant ESAD-UK 1 241951950 241951950 single base substitution C T intron_variant ESAD-UK 1 241953092 241953092 single base substitution T A downstream_gene_variant ESAD-UK 1 241953092 241953092 single base substitution T A intron_variant ESAD-UK 1 241954977 241954977 single base substitution G A downstream_gene_variant ESAD-UK 1 241954977 241954977 single base substitution G A intron_variant ESAD-UK 1 241955863 241955863 single base substitution A G downstream_gene_variant ESAD-UK 1 241955863 241955863 single base substitution A G intron_variant ESAD-UK 1 241956941 241956941 single base substitution A C intron_variant ESAD-UK 1 241957015 241957015 single base substitution T C intron_variant ESAD-UK 1 241957222 241957222 single base substitution G A intron_variant ESAD-UK 1 241957406 241957406 single base substitution T A intron_variant ESAD-UK 1 241957604 241957604 single base substitution T G intron_variant ESAD-UK 1 241958108 241958108 single base substitution C T intron_variant ESAD-UK 1 241958575 241958575 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 241958575 241958575 single base substitution C T synonymous_variant L1012L 3034C>T ESAD-UK 1 241958575 241958575 single base substitution C T synonymous_variant L490L 1468C>T ESAD-UK 1 241958575 241958575 single base substitution C T synonymous_variant L616L 1846C>T ESAD-UK 1 241958575 241958575 single base substitution C T synonymous_variant L845L 2533C>T ESAD-UK 1 241959644 241959644 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 241959644 241959644 single base substitution A C downstream_gene_variant ESAD-UK 1 241959644 241959644 single base substitution A C missense_variant K1045T 3134A>C ESAD-UK 1 241959644 241959644 single base substitution A C missense_variant K523T 1568A>C ESAD-UK 1 241959644 241959644 single base substitution A C missense_variant K649T 1946A>C ESAD-UK 1 241959644 241959644 single base substitution A C missense_variant K878T 2633A>C ESAD-UK 1 241960204 241960204 single base substitution A C downstream_gene_variant ESAD-UK 1 241960204 241960204 single base substitution A C intron_variant ESAD-UK 1 241960950 241960952 deletion of <=200bp TCA - downstream_gene_variant ESAD-UK 1 241960950 241960952 deletion of <=200bp TCA - intron_variant ESAD-UK 1 241960979 241960979 single base substitution A G downstream_gene_variant ESAD-UK 1 241960979 241960979 single base substitution A G intron_variant ESAD-UK 1 241961273 241961273 single base substitution A C downstream_gene_variant ESAD-UK 1 241961273 241961273 single base substitution A C intron_variant ESAD-UK 1 241961319 241961319 single base substitution G T downstream_gene_variant ESAD-UK 1 241961319 241961319 single base substitution G T intron_variant ESAD-UK 1 241961576 241961576 single base substitution A C downstream_gene_variant ESAD-UK 1 241961576 241961576 single base substitution A C intron_variant ESAD-UK 1 241961617 241961617 single base substitution A C downstream_gene_variant ESAD-UK 1 241961617 241961617 single base substitution A C intron_variant ESAD-UK 1 241961687 241961687 single base substitution C T downstream_gene_variant ESAD-UK 1 241961687 241961687 single base substitution C T intron_variant ESAD-UK 1 241963450 241963450 single base substitution A C downstream_gene_variant ESAD-UK 1 241963450 241963450 single base substitution A C intron_variant ESAD-UK 1 241964249 241964249 single base substitution G A downstream_gene_variant ESAD-UK 1 241964249 241964249 single base substitution G A intron_variant ESAD-UK 1 241964736 241964736 single base substitution T A 3_prime_UTR_variant ESAD-UK 1 241965018 241965018 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 241965018 241965018 single base substitution A C downstream_gene_variant ESAD-UK 1 241965887 241965887 single base substitution C T downstream_gene_variant ESAD-UK 1 241966008 241966008 single base substitution T G downstream_gene_variant ESAD-UK 1 241967075 241967075 single base substitution A C downstream_gene_variant ESAD-UK 1 241967310 241967310 single base substitution A C downstream_gene_variant ESAD-UK 1 241967526 241967526 single base substitution A C downstream_gene_variant ESAD-UK 1 241967527 241967527 single base substitution G T downstream_gene_variant ESAD-UK 1 241967558 241967558 single base substitution C G downstream_gene_variant ESAD-UK 1 241967581 241967581 single base substitution A T downstream_gene_variant ESAD-UK 1 241967593 241967593 single base substitution G A downstream_gene_variant ESAD-UK 1 241968428 241968428 single base substitution C A downstream_gene_variant ESAD-UK 1 241968681 241968681 single base substitution C A downstream_gene_variant ESAD-UK 1 241969190 241969190 single base substitution G A downstream_gene_variant ESAD-UK 1 241969374 241969374 single base substitution A C downstream_gene_variant ESCA-CN 1 241846691 241846691 single base substitution A C intron_variant ESCA-CN 1 241846691 241846691 single base substitution A C upstream_gene_variant ESCA-CN 1 241886720 241886720 single base substitution C T exon_variant ESCA-CN 1 241886720 241886720 single base substitution C T synonymous_variant V153V 459C>T ESCA-CN 1 241886720 241886720 single base substitution C T synonymous_variant V382V 1146C>T ESCA-CN 1 241936222 241936222 single base substitution T C 3_prime_UTR_variant ESCA-CN 1 241936222 241936222 single base substitution T C exon_variant ESCA-CN 1 241936222 241936222 single base substitution T C intron_variant ESCA-CN 1 241936222 241936222 single base substitution T C missense_variant W275R 823T>C ESCA-CN 1 241936222 241936222 single base substitution T C missense_variant W797R 2389T>C GBM-US 1 241946599 241946599 single base substitution G A 3_prime_UTR_variant GBM-US 1 241946599 241946599 single base substitution G A exon_variant GBM-US 1 241946599 241946599 single base substitution G A intron_variant GBM-US 1 241946599 241946599 single base substitution G A missense_variant R342H 1025G>A GBM-US 1 241946599 241946599 single base substitution G A missense_variant R468H 1403G>A GBM-US 1 241946599 241946599 single base substitution G A missense_variant R697H 2090G>A GBM-US 1 241946599 241946599 single base substitution G A missense_variant R864H 2591G>A GBM-US 1 241959665 241959665 single base substitution G A 3_prime_UTR_variant GBM-US 1 241959665 241959665 single base substitution G A downstream_gene_variant GBM-US 1 241959665 241959665 single base substitution G A missense_variant R1052H 3155G>A GBM-US 1 241959665 241959665 single base substitution G A missense_variant R530H 1589G>A GBM-US 1 241959665 241959665 single base substitution G A missense_variant R656H 1967G>A GBM-US 1 241959665 241959665 single base substitution G A missense_variant R885H 2654G>A KIRC-US 1 241875161 241875161 single base substitution G A exon_variant KIRC-US 1 241875161 241875161 single base substitution G A synonymous_variant K105K 315G>A KIRC-US 1 241875161 241875161 single base substitution G A synonymous_variant K334K 1002G>A KIRC-US 1 241886621 241886621 single base substitution G T exon_variant KIRC-US 1 241886621 241886621 single base substitution G T missense_variant L120F 360G>T KIRC-US 1 241886621 241886621 single base substitution G T missense_variant L349F 1047G>T LAML-KR 1 241888720 241888720 single base substitution G A intron_variant LAML-KR 1 241901671 241901671 single base substitution C T exon_variant LAML-KR 1 241901671 241901671 single base substitution C T missense_variant R162W 484C>T LAML-KR 1 241901671 241901671 single base substitution C T missense_variant R391W 1171C>T LAML-KR 1 241901671 241901671 single base substitution C T upstream_gene_variant LAML-KR 1 241907548 241907548 single base substitution A C intron_variant LAML-KR 1 241951034 241951034 single base substitution C T intron_variant LICA-CN 1 241932707 241932707 single base substitution T C intron_variant LICA-CN 1 241932707 241932707 single base substitution T C missense_variant Y163H 487T>C LICA-CN 1 241932707 241932707 single base substitution T C missense_variant Y685H 2053T>C LICA-CN 1 241932707 241932707 single base substitution T C splice_region_variant LICA-CN 1 241932707 241932707 single base substitution T C upstream_gene_variant LICA-CN 1 241936149 241936149 single base substitution T A 3_prime_UTR_variant LICA-CN 1 241936149 241936149 single base substitution T A exon_variant LICA-CN 1 241936149 241936149 single base substitution T A intron_variant LICA-CN 1 241936149 241936149 single base substitution T A synonymous_variant P250P 750T>A LICA-CN 1 241936149 241936149 single base substitution T A synonymous_variant P772P 2316T>A LICA-FR 1 241818733 241818733 single base substitution T G intron_variant LICA-FR 1 241825786 241825786 single base substitution C A intron_variant LICA-FR 1 241842806 241842806 single base substitution G C downstream_gene_variant LICA-FR 1 241842806 241842806 single base substitution G C exon_variant LICA-FR 1 241842806 241842806 single base substitution G C missense_variant G168A 503G>C LICA-FR 1 241842806 241842806 single base substitution G C upstream_gene_variant LICA-FR 1 241844040 241844040 insertion of <=200bp - A downstream_gene_variant LICA-FR 1 241844040 241844040 insertion of <=200bp - A intron_variant LICA-FR 1 241844040 241844040 insertion of <=200bp - A upstream_gene_variant LICA-FR 1 241846839 241846839 single base substitution T C exon_variant LICA-FR 1 241846839 241846839 single base substitution T C synonymous_variant C215C 645T>C LICA-FR 1 241846839 241846839 single base substitution T C upstream_gene_variant LICA-FR 1 241854776 241854776 single base substitution G A intron_variant LICA-FR 1 241862387 241862387 single base substitution G C intron_variant LICA-FR 1 241866290 241866290 single base substitution C T intron_variant LICA-FR 1 241900694 241900694 single base substitution C A intron_variant LICA-FR 1 241900694 241900694 single base substitution C A upstream_gene_variant LICA-FR 1 241904958 241904958 single base substitution A G exon_variant LICA-FR 1 241904958 241904958 single base substitution A G missense_variant I249V 745A>G LICA-FR 1 241904958 241904958 single base substitution A G missense_variant I478V 1432A>G LICA-FR 1 241917484 241917484 single base substitution T A intron_variant LICA-FR 1 241924617 241924617 single base substitution A G intron_variant LICA-FR 1 241931830 241931847 deletion of <=200bp GATTCAGCTCATCTGCAC - intron_variant LICA-FR 1 241931830 241931847 deletion of <=200bp GATTCAGCTCATCTGCAC - upstream_gene_variant LICA-FR 1 241938490 241938490 single base substitution G T 3_prime_UTR_variant LICA-FR 1 241938490 241938490 single base substitution G T exon_variant LICA-FR 1 241938490 241938490 single base substitution G T intron_variant LICA-FR 1 241938490 241938490 single base substitution G T missense_variant R306S 918G>T LICA-FR 1 241938490 241938490 single base substitution G T missense_variant R828S 2484G>T LICA-FR 1 241948114 241948114 single base substitution G T intron_variant LICA-FR 1 241951244 241951244 single base substitution T A 3_prime_UTR_variant LICA-FR 1 241951244 241951244 single base substitution T A downstream_gene_variant LICA-FR 1 241951244 241951244 single base substitution T A exon_variant LICA-FR 1 241951244 241951244 single base substitution T A stop_gained C401* 1203T>A LICA-FR 1 241951244 241951244 single base substitution T A stop_gained C527* 1581T>A LICA-FR 1 241951244 241951244 single base substitution T A stop_gained C756* 2268T>A LICA-FR 1 241951244 241951244 single base substitution T A stop_gained C923* 2769T>A LICA-FR 1 241953930 241953930 single base substitution C A 3_prime_UTR_variant LICA-FR 1 241953930 241953930 single base substitution C A downstream_gene_variant LICA-FR 1 241953930 241953930 single base substitution C A intron_variant LICA-FR 1 241953930 241953930 single base substitution C A missense_variant R445S 1333C>A LICA-FR 1 241953930 241953930 single base substitution C A missense_variant R571S 1711C>A LICA-FR 1 241953930 241953930 single base substitution C A missense_variant R800S 2398C>A LICA-FR 1 241953930 241953930 single base substitution C A missense_variant R967S 2899C>A LICA-FR 1 241968730 241968730 single base substitution T C downstream_gene_variant LIHC-US 1 241886642 241886642 single base substitution C A exon_variant LIHC-US 1 241886642 241886642 single base substitution C A synonymous_variant T127T 381C>A LIHC-US 1 241886642 241886642 single base substitution C A synonymous_variant T356T 1068C>A LIHC-US 1 241946598 241946598 single base substitution C T 3_prime_UTR_variant LIHC-US 1 241946598 241946598 single base substitution C T exon_variant LIHC-US 1 241946598 241946598 single base substitution C T intron_variant LIHC-US 1 241946598 241946598 single base substitution C T missense_variant R342C 1024C>T LIHC-US 1 241946598 241946598 single base substitution C T missense_variant R468C 1402C>T LIHC-US 1 241946598 241946598 single base substitution C T missense_variant R697C 2089C>T LIHC-US 1 241946598 241946598 single base substitution C T missense_variant R864C 2590C>T LINC-JP 1 241826121 241826121 single base substitution A G intron_variant LINC-JP 1 241837871 241837871 insertion of <=200bp - A intron_variant LINC-JP 1 241866353 241866353 single base substitution T G intron_variant LINC-JP 1 241881944 241881944 single base substitution T C intron_variant LINC-JP 1 241886681 241886681 single base substitution C T exon_variant LINC-JP 1 241886681 241886681 single base substitution C T synonymous_variant I140I 420C>T LINC-JP 1 241886681 241886681 single base substitution C T synonymous_variant I369I 1107C>T LINC-JP 1 241887105 241887105 single base substitution A G intron_variant LINC-JP 1 241887106 241887106 single base substitution G T intron_variant LINC-JP 1 241892137 241892137 single base substitution C T intron_variant LINC-JP 1 241901625 241901625 single base substitution G A intron_variant LINC-JP 1 241901625 241901625 single base substitution G A upstream_gene_variant LINC-JP 1 241913068 241913068 single base substitution G T intron_variant LINC-JP 1 241935293 241935293 single base substitution C T intron_variant LINC-JP 1 241936205 241936205 single base substitution A T 3_prime_UTR_variant LINC-JP 1 241936205 241936205 single base substitution A T exon_variant LINC-JP 1 241936205 241936205 single base substitution A T intron_variant LINC-JP 1 241936205 241936205 single base substitution A T missense_variant D269V 806A>T LINC-JP 1 241936205 241936205 single base substitution A T missense_variant D791V 2372A>T LINC-JP 1 241936270 241936270 single base substitution T C intron_variant LINC-JP 1 241953983 241953983 single base substitution T C 3_prime_UTR_variant LINC-JP 1 241953983 241953983 single base substitution T C downstream_gene_variant LINC-JP 1 241953983 241953983 single base substitution T C intron_variant LINC-JP 1 241953983 241953983 single base substitution T C synonymous_variant S462S 1386T>C LINC-JP 1 241953983 241953983 single base substitution T C synonymous_variant S588S 1764T>C LINC-JP 1 241953983 241953983 single base substitution T C synonymous_variant S817S 2451T>C LINC-JP 1 241953983 241953983 single base substitution T C synonymous_variant S984S 2952T>C LINC-JP 1 241959808 241959808 single base substitution T C downstream_gene_variant LINC-JP 1 241959808 241959808 single base substitution T C intron_variant LINC-JP 1 241959809 241959809 single base substitution C T downstream_gene_variant LINC-JP 1 241959809 241959809 single base substitution C T intron_variant LINC-JP 1 241964340 241964340 single base substitution A G downstream_gene_variant LINC-JP 1 241964340 241964340 single base substitution A G intron_variant LINC-JP 1 241969503 241969503 single base substitution T C downstream_gene_variant LINC-JP 1 241969865 241969865 single base substitution G A downstream_gene_variant LIRI-JP 1 241813817 241813817 single base substitution G A upstream_gene_variant LIRI-JP 1 241816429 241816429 single base substitution G C intron_variant LIRI-JP 1 241817036 241817036 single base substitution G A intron_variant LIRI-JP 1 241817334 241817334 single base substitution G C intron_variant LIRI-JP 1 241818967 241818967 single base substitution C T intron_variant LIRI-JP 1 241818967 241818967 single base substitution C T upstream_gene_variant LIRI-JP 1 241821800 241821800 single base substitution G T intron_variant LIRI-JP 1 241821800 241821800 single base substitution G T upstream_gene_variant LIRI-JP 1 241826158 241826158 single base substitution A G intron_variant LIRI-JP 1 241826339 241826339 single base substitution A G intron_variant LIRI-JP 1 241826947 241826947 insertion of <=200bp - G intron_variant LIRI-JP 1 241833618 241833618 single base substitution A C intron_variant LIRI-JP 1 241833712 241833712 single base substitution G T intron_variant LIRI-JP 1 241834105 241834105 single base substitution A T intron_variant LIRI-JP 1 241834675 241834675 single base substitution A G intron_variant LIRI-JP 1 241839224 241839224 single base substitution C G intron_variant LIRI-JP 1 241841031 241841031 single base substitution G T downstream_gene_variant LIRI-JP 1 241841031 241841031 single base substitution G T intron_variant LIRI-JP 1 241841230 241841230 single base substitution C T downstream_gene_variant LIRI-JP 1 241841230 241841230 single base substitution C T intron_variant LIRI-JP 1 241842473 241842473 single base substitution A T downstream_gene_variant LIRI-JP 1 241842473 241842473 single base substitution A T intron_variant LIRI-JP 1 241842473 241842473 single base substitution A T upstream_gene_variant LIRI-JP 1 241848481 241848481 single base substitution A G downstream_gene_variant LIRI-JP 1 241848481 241848481 single base substitution A G intron_variant LIRI-JP 1 241848888 241848888 single base substitution A G downstream_gene_variant LIRI-JP 1 241848888 241848888 single base substitution A G intron_variant LIRI-JP 1 241851380 241851380 single base substitution G T downstream_gene_variant LIRI-JP 1 241851380 241851380 single base substitution G T intron_variant LIRI-JP 1 241851439 241851439 single base substitution T C downstream_gene_variant LIRI-JP 1 241851439 241851439 single base substitution T C intron_variant LIRI-JP 1 241852210 241852210 single base substitution G A intron_variant LIRI-JP 1 241852732 241852732 single base substitution A T intron_variant LIRI-JP 1 241852969 241852969 single base substitution A G intron_variant LIRI-JP 1 241854982 241854982 single base substitution A G intron_variant LIRI-JP 1 241855198 241855198 single base substitution T G intron_variant LIRI-JP 1 241856550 241856550 single base substitution C A intron_variant LIRI-JP 1 241858050 241858050 deletion of <=200bp T - intron_variant LIRI-JP 1 241858738 241858738 single base substitution G T intron_variant LIRI-JP 1 241864118 241864118 single base substitution G A intron_variant LIRI-JP 1 241864608 241864608 single base substitution A G intron_variant LIRI-JP 1 241868245 241868245 single base substitution G T intron_variant LIRI-JP 1 241868697 241868697 single base substitution A G intron_variant LIRI-JP 1 241868848 241868848 single base substitution A T intron_variant LIRI-JP 1 241870983 241870983 single base substitution C T intron_variant LIRI-JP 1 241872033 241872033 single base substitution G T intron_variant LIRI-JP 1 241875327 241875327 single base substitution G T intron_variant LIRI-JP 1 241876415 241876415 single base substitution C A intron_variant LIRI-JP 1 241877617 241877617 single base substitution T C intron_variant LIRI-JP 1 241878295 241878295 single base substitution T A intron_variant LIRI-JP 1 241878526 241878526 single base substitution C A intron_variant LIRI-JP 1 241878954 241878954 single base substitution T C intron_variant LIRI-JP 1 241878998 241878998 single base substitution T C intron_variant LIRI-JP 1 241879452 241879452 single base substitution G A intron_variant LIRI-JP 1 241880213 241880213 single base substitution C A intron_variant LIRI-JP 1 241881155 241881155 single base substitution C T intron_variant LIRI-JP 1 241882741 241882741 single base substitution G A intron_variant LIRI-JP 1 241883493 241883493 single base substitution T C intron_variant LIRI-JP 1 241884899 241884899 single base substitution T C intron_variant LIRI-JP 1 241885179 241885179 single base substitution G A intron_variant LIRI-JP 1 241885948 241885948 single base substitution A T intron_variant LIRI-JP 1 241889172 241889172 single base substitution C T intron_variant LIRI-JP 1 241889206 241889206 single base substitution T G intron_variant LIRI-JP 1 241889731 241889731 single base substitution T A intron_variant LIRI-JP 1 241890676 241890676 single base substitution T C intron_variant LIRI-JP 1 241890729 241890729 single base substitution C A intron_variant LIRI-JP 1 241893444 241893444 single base substitution G C intron_variant LIRI-JP 1 241893908 241893908 single base substitution G T intron_variant LIRI-JP 1 241893920 241893920 single base substitution C T intron_variant LIRI-JP 1 241893966 241893966 single base substitution G A intron_variant LIRI-JP 1 241894078 241894078 single base substitution A G intron_variant LIRI-JP 1 241895512 241895512 single base substitution T C intron_variant LIRI-JP 1 241896756 241896756 single base substitution G A intron_variant LIRI-JP 1 241899220 241899220 single base substitution C T intron_variant LIRI-JP 1 241900482 241900482 single base substitution T C intron_variant LIRI-JP 1 241900482 241900482 single base substitution T C upstream_gene_variant LIRI-JP 1 241901945 241901945 single base substitution G C intron_variant LIRI-JP 1 241901945 241901945 single base substitution G C upstream_gene_variant LIRI-JP 1 241902161 241902161 deletion of <=200bp G - intron_variant LIRI-JP 1 241902161 241902161 deletion of <=200bp G - upstream_gene_variant LIRI-JP 1 241904958 241904958 single base substitution A G exon_variant LIRI-JP 1 241904958 241904958 single base substitution A G missense_variant I249V 745A>G LIRI-JP 1 241904958 241904958 single base substitution A G missense_variant I478V 1432A>G LIRI-JP 1 241908498 241908498 single base substitution T A intron_variant LIRI-JP 1 241908498 241908498 single base substitution T A upstream_gene_variant LIRI-JP 1 241910015 241910015 single base substitution A G intron_variant LIRI-JP 1 241910015 241910015 single base substitution A G upstream_gene_variant LIRI-JP 1 241914593 241914593 single base substitution G A intron_variant LIRI-JP 1 241914862 241914862 single base substitution G A intron_variant LIRI-JP 1 241915704 241915704 single base substitution C T intron_variant LIRI-JP 1 241917463 241917463 single base substitution G A intron_variant LIRI-JP 1 241920245 241920245 single base substitution G A intron_variant LIRI-JP 1 241920264 241920264 single base substitution A T intron_variant LIRI-JP 1 241920621 241920621 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 241920621 241920621 single base substitution G A exon_variant LIRI-JP 1 241920621 241920621 single base substitution G A missense_variant E364K 1090G>A LIRI-JP 1 241920621 241920621 single base substitution G A missense_variant E593K 1777G>A LIRI-JP 1 241920621 241920621 single base substitution G A missense_variant E71K 211G>A LIRI-JP 1 241920674 241920674 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 241920674 241920674 single base substitution G T exon_variant LIRI-JP 1 241920674 241920674 single base substitution G T synonymous_variant L381L 1143G>T LIRI-JP 1 241920674 241920674 single base substitution G T synonymous_variant L610L 1830G>T LIRI-JP 1 241920674 241920674 single base substitution G T synonymous_variant L88L 264G>T LIRI-JP 1 241921501 241921501 single base substitution G T intron_variant LIRI-JP 1 241922314 241922314 single base substitution T A intron_variant LIRI-JP 1 241922359 241922359 single base substitution A G intron_variant LIRI-JP 1 241925334 241925334 single base substitution T C intron_variant LIRI-JP 1 241927061 241927061 single base substitution C T intron_variant LIRI-JP 1 241932291 241932291 single base substitution C T intron_variant LIRI-JP 1 241932291 241932291 single base substitution C T upstream_gene_variant LIRI-JP 1 241932303 241932303 single base substitution T A intron_variant LIRI-JP 1 241932303 241932303 single base substitution T A upstream_gene_variant LIRI-JP 1 241932721 241932721 single base substitution T A 3_prime_UTR_variant LIRI-JP 1 241932721 241932721 single base substitution T A exon_variant LIRI-JP 1 241932721 241932721 single base substitution T A intron_variant LIRI-JP 1 241932721 241932721 single base substitution T A missense_variant D167E 501T>A LIRI-JP 1 241932721 241932721 single base substitution T A missense_variant D689E 2067T>A LIRI-JP 1 241932721 241932721 single base substitution T A upstream_gene_variant LIRI-JP 1 241933584 241933584 single base substitution C G intron_variant LIRI-JP 1 241933584 241933584 single base substitution C G upstream_gene_variant LIRI-JP 1 241934747 241934747 single base substitution G A intron_variant LIRI-JP 1 241936887 241936887 single base substitution C T intron_variant LIRI-JP 1 241937127 241937127 single base substitution G T intron_variant LIRI-JP 1 241938038 241938038 single base substitution C A intron_variant LIRI-JP 1 241938039 241938039 single base substitution C T intron_variant LIRI-JP 1 241939583 241939583 single base substitution G T intron_variant LIRI-JP 1 241941565 241941565 single base substitution C T intron_variant LIRI-JP 1 241942018 241942018 single base substitution A G intron_variant LIRI-JP 1 241944260 241944260 single base substitution G A intron_variant LIRI-JP 1 241951569 241951569 single base substitution C A downstream_gene_variant LIRI-JP 1 241951569 241951569 single base substitution C A intron_variant LIRI-JP 1 241952984 241952984 single base substitution A G downstream_gene_variant LIRI-JP 1 241952984 241952984 single base substitution A G intron_variant LIRI-JP 1 241955739 241955739 single base substitution G T downstream_gene_variant LIRI-JP 1 241955739 241955739 single base substitution G T intron_variant LIRI-JP 1 241958207 241958207 single base substitution C A intron_variant LIRI-JP 1 241959214 241959214 single base substitution A G intron_variant LIRI-JP 1 241959629 241959629 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 241959629 241959629 single base substitution G A downstream_gene_variant LIRI-JP 1 241959629 241959629 single base substitution G A missense_variant G1040D 3119G>A LIRI-JP 1 241959629 241959629 single base substitution G A missense_variant G518D 1553G>A LIRI-JP 1 241959629 241959629 single base substitution G A missense_variant G644D 1931G>A LIRI-JP 1 241959629 241959629 single base substitution G A missense_variant G873D 2618G>A LIRI-JP 1 241959715 241959715 single base substitution A G downstream_gene_variant LIRI-JP 1 241959715 241959715 single base substitution A G intron_variant LIRI-JP 1 241961466 241961466 single base substitution A G downstream_gene_variant LIRI-JP 1 241961466 241961466 single base substitution A G intron_variant LIRI-JP 1 241963601 241963601 single base substitution C T downstream_gene_variant LIRI-JP 1 241963601 241963601 single base substitution C T intron_variant LIRI-JP 1 241964337 241964337 single base substitution A T downstream_gene_variant LIRI-JP 1 241964337 241964337 single base substitution A T intron_variant LIRI-JP 1 241964342 241964342 single base substitution C A downstream_gene_variant LIRI-JP 1 241964342 241964342 single base substitution C A intron_variant LIRI-JP 1 241967915 241967915 single base substitution A G downstream_gene_variant LIRI-JP 1 241967969 241967969 single base substitution T A downstream_gene_variant LIRI-JP 1 241969766 241969766 single base substitution C A downstream_gene_variant LIRI-JP 1 241970014 241970014 single base substitution A T downstream_gene_variant LIRI-JP 1 241970189 241970189 single base substitution C T downstream_gene_variant LUSC-KR 1 241810763 241810763 single base substitution C T upstream_gene_variant LUSC-KR 1 241812307 241812307 single base substitution C A upstream_gene_variant LUSC-KR 1 241812334 241812334 single base substitution C G upstream_gene_variant LUSC-KR 1 241812375 241812375 single base substitution G T upstream_gene_variant LUSC-KR 1 241813741 241813741 single base substitution C T upstream_gene_variant LUSC-KR 1 241813822 241813822 single base substitution C T upstream_gene_variant LUSC-KR 1 241815044 241815044 single base substitution C A upstream_gene_variant LUSC-KR 1 241817788 241817788 single base substitution C A intron_variant LUSC-KR 1 241821999 241821999 single base substitution G A intron_variant LUSC-KR 1 241821999 241821999 single base substitution G A upstream_gene_variant LUSC-KR 1 241829780 241829780 single base substitution A G intron_variant LUSC-KR 1 241832784 241832784 single base substitution G C intron_variant LUSC-KR 1 241833746 241833746 single base substitution C A intron_variant LUSC-KR 1 241836954 241836954 single base substitution T A intron_variant LUSC-KR 1 241837055 241837055 single base substitution G T intron_variant LUSC-KR 1 241837056 241837056 single base substitution G T intron_variant LUSC-KR 1 241837208 241837208 single base substitution T C intron_variant LUSC-KR 1 241838492 241838492 single base substitution C A intron_variant LUSC-KR 1 241842815 241842815 single base substitution A C downstream_gene_variant LUSC-KR 1 241842815 241842815 single base substitution A C exon_variant LUSC-KR 1 241842815 241842815 single base substitution A C missense_variant Y171S 512A>C LUSC-KR 1 241842815 241842815 single base substitution A C upstream_gene_variant LUSC-KR 1 241842957 241842957 single base substitution A T downstream_gene_variant LUSC-KR 1 241842957 241842957 single base substitution A T intron_variant LUSC-KR 1 241842957 241842957 single base substitution A T upstream_gene_variant LUSC-KR 1 241843982 241843982 single base substitution C A downstream_gene_variant LUSC-KR 1 241843982 241843982 single base substitution C A intron_variant LUSC-KR 1 241843982 241843982 single base substitution C A upstream_gene_variant LUSC-KR 1 241845325 241845325 single base substitution A T intron_variant LUSC-KR 1 241845325 241845325 single base substitution A T upstream_gene_variant LUSC-KR 1 241845417 241845417 single base substitution A T intron_variant LUSC-KR 1 241845417 241845417 single base substitution A T upstream_gene_variant LUSC-KR 1 241845481 241845481 single base substitution C G intron_variant LUSC-KR 1 241845481 241845481 single base substitution C G upstream_gene_variant LUSC-KR 1 241845708 241845708 single base substitution T C intron_variant LUSC-KR 1 241845708 241845708 single base substitution T C upstream_gene_variant LUSC-KR 1 241847018 241847018 single base substitution C T downstream_gene_variant LUSC-KR 1 241847018 241847018 single base substitution C T intron_variant LUSC-KR 1 241849708 241849708 single base substitution C A downstream_gene_variant LUSC-KR 1 241849708 241849708 single base substitution C A intron_variant LUSC-KR 1 241850372 241850372 single base substitution C T downstream_gene_variant LUSC-KR 1 241850372 241850372 single base substitution C T intron_variant LUSC-KR 1 241850576 241850576 single base substitution C T downstream_gene_variant LUSC-KR 1 241850576 241850576 single base substitution C T intron_variant LUSC-KR 1 241852723 241852723 single base substitution A G intron_variant LUSC-KR 1 241856470 241856470 single base substitution C T intron_variant LUSC-KR 1 241857048 241857048 single base substitution G A intron_variant LUSC-KR 1 241857734 241857734 single base substitution A G intron_variant LUSC-KR 1 241859454 241859454 single base substitution G C intron_variant LUSC-KR 1 241861944 241861944 single base substitution G C intron_variant LUSC-KR 1 241863553 241863553 single base substitution C A intron_variant LUSC-KR 1 241867736 241867736 single base substitution T A intron_variant LUSC-KR 1 241870958 241870958 single base substitution C A intron_variant LUSC-KR 1 241875241 241875241 single base substitution C T intron_variant LUSC-KR 1 241875407 241875407 single base substitution G C intron_variant LUSC-KR 1 241875925 241875925 single base substitution T C intron_variant LUSC-KR 1 241878678 241878678 single base substitution C A intron_variant LUSC-KR 1 241878679 241878679 single base substitution C A intron_variant LUSC-KR 1 241882935 241882935 single base substitution C T intron_variant LUSC-KR 1 241886430 241886430 single base substitution C G intron_variant LUSC-KR 1 241886487 241886487 single base substitution C T intron_variant LUSC-KR 1 241886790 241886790 single base substitution T C intron_variant LUSC-KR 1 241887768 241887768 single base substitution G T intron_variant LUSC-KR 1 241889306 241889306 single base substitution C G intron_variant LUSC-KR 1 241889593 241889593 single base substitution T G intron_variant LUSC-KR 1 241889594 241889594 single base substitution G T intron_variant LUSC-KR 1 241891044 241891044 single base substitution G A intron_variant LUSC-KR 1 241891262 241891262 single base substitution A G intron_variant LUSC-KR 1 241892359 241892359 single base substitution C A intron_variant LUSC-KR 1 241892436 241892436 single base substitution C T intron_variant LUSC-KR 1 241892564 241892564 single base substitution G T intron_variant LUSC-KR 1 241898712 241898712 single base substitution T C intron_variant LUSC-KR 1 241898742 241898742 single base substitution C G intron_variant LUSC-KR 1 241898801 241898801 single base substitution T C intron_variant LUSC-KR 1 241905169 241905169 single base substitution C A intron_variant LUSC-KR 1 241906252 241906252 single base substitution C A intron_variant LUSC-KR 1 241907548 241907548 single base substitution A C intron_variant LUSC-KR 1 241909477 241909477 single base substitution G T intron_variant LUSC-KR 1 241909477 241909477 single base substitution G T upstream_gene_variant LUSC-KR 1 241913087 241913087 single base substitution G T intron_variant LUSC-KR 1 241913471 241913471 single base substitution G A intron_variant LUSC-KR 1 241914707 241914707 single base substitution G C intron_variant LUSC-KR 1 241915157 241915157 single base substitution T C intron_variant LUSC-KR 1 241916048 241916048 single base substitution G T intron_variant LUSC-KR 1 241916703 241916703 single base substitution C T intron_variant LUSC-KR 1 241918091 241918091 single base substitution C G intron_variant LUSC-KR 1 241918161 241918161 single base substitution G T intron_variant LUSC-KR 1 241920676 241920676 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 241920676 241920676 single base substitution G A exon_variant LUSC-KR 1 241920676 241920676 single base substitution G A missense_variant R382K 1145G>A LUSC-KR 1 241920676 241920676 single base substitution G A missense_variant R611K 1832G>A LUSC-KR 1 241920676 241920676 single base substitution G A missense_variant R89K 266G>A LUSC-KR 1 241922209 241922209 single base substitution C T intron_variant LUSC-KR 1 241924334 241924334 single base substitution C G intron_variant LUSC-KR 1 241927533 241927533 single base substitution G A intron_variant LUSC-KR 1 241927558 241927558 single base substitution C T intron_variant LUSC-KR 1 241932737 241932737 single base substitution C A 3_prime_UTR_variant LUSC-KR 1 241932737 241932737 single base substitution C A exon_variant LUSC-KR 1 241932737 241932737 single base substitution C A intron_variant LUSC-KR 1 241932737 241932737 single base substitution C A missense_variant P173T 517C>A LUSC-KR 1 241932737 241932737 single base substitution C A missense_variant P695T 2083C>A LUSC-KR 1 241932737 241932737 single base substitution C A upstream_gene_variant LUSC-KR 1 241933367 241933367 single base substitution T C intron_variant LUSC-KR 1 241933367 241933367 single base substitution T C upstream_gene_variant LUSC-KR 1 241934025 241934025 single base substitution G T intron_variant LUSC-KR 1 241935386 241935386 single base substitution G T intron_variant LUSC-KR 1 241935523 241935523 single base substitution G T intron_variant LUSC-KR 1 241936197 241936197 single base substitution T G 3_prime_UTR_variant LUSC-KR 1 241936197 241936197 single base substitution T G exon_variant LUSC-KR 1 241936197 241936197 single base substitution T G intron_variant LUSC-KR 1 241936197 241936197 single base substitution T G synonymous_variant A266A 798T>G LUSC-KR 1 241936197 241936197 single base substitution T G synonymous_variant A788A 2364T>G LUSC-KR 1 241936805 241936805 single base substitution T A intron_variant LUSC-KR 1 241936864 241936864 single base substitution C G intron_variant LUSC-KR 1 241939003 241939003 single base substitution G A intron_variant LUSC-KR 1 241941018 241941018 single base substitution C A intron_variant LUSC-KR 1 241943271 241943271 single base substitution C G intron_variant LUSC-KR 1 241944260 241944260 single base substitution G A intron_variant LUSC-KR 1 241945588 241945588 single base substitution C T intron_variant LUSC-KR 1 241945679 241945679 single base substitution G T intron_variant LUSC-KR 1 241946595 241946595 single base substitution T A 3_prime_UTR_variant LUSC-KR 1 241946595 241946595 single base substitution T A exon_variant LUSC-KR 1 241946595 241946595 single base substitution T A intron_variant LUSC-KR 1 241946595 241946595 single base substitution T A missense_variant W341R 1021T>A LUSC-KR 1 241946595 241946595 single base substitution T A missense_variant W467R 1399T>A LUSC-KR 1 241946595 241946595 single base substitution T A missense_variant W696R 2086T>A LUSC-KR 1 241946595 241946595 single base substitution T A missense_variant W863R 2587T>A LUSC-KR 1 241947792 241947792 single base substitution G T intron_variant LUSC-KR 1 241951107 241951107 single base substitution A C intron_variant LUSC-KR 1 241954286 241954286 single base substitution C G downstream_gene_variant LUSC-KR 1 241954286 241954286 single base substitution C G intron_variant LUSC-KR 1 241955051 241955051 single base substitution G A downstream_gene_variant LUSC-KR 1 241955051 241955051 single base substitution G A intron_variant LUSC-KR 1 241957748 241957748 single base substitution G C intron_variant LUSC-KR 1 241960367 241960367 single base substitution T C downstream_gene_variant LUSC-KR 1 241960367 241960367 single base substitution T C intron_variant LUSC-KR 1 241962769 241962769 single base substitution C G downstream_gene_variant LUSC-KR 1 241962769 241962769 single base substitution C G intron_variant LUSC-KR 1 241962770 241962770 single base substitution T C downstream_gene_variant LUSC-KR 1 241962770 241962770 single base substitution T C intron_variant LUSC-KR 1 241963073 241963073 single base substitution C A downstream_gene_variant LUSC-KR 1 241963073 241963073 single base substitution C A intron_variant LUSC-KR 1 241964967 241964967 single base substitution G T 3_prime_UTR_variant LUSC-KR 1 241964967 241964967 single base substitution G T downstream_gene_variant LUSC-KR 1 241965444 241965444 single base substitution A T downstream_gene_variant LUSC-KR 1 241968212 241968212 single base substitution C A downstream_gene_variant LUSC-KR 1 241968797 241968797 single base substitution G C downstream_gene_variant LUSC-US 1 241886653 241886653 single base substitution G A exon_variant LUSC-US 1 241886653 241886653 single base substitution G A missense_variant G131E 392G>A LUSC-US 1 241886653 241886653 single base substitution G A missense_variant G360E 1079G>A LUSC-US 1 241886728 241886728 single base substitution C A exon_variant LUSC-US 1 241886728 241886728 single base substitution C A missense_variant S156Y 467C>A LUSC-US 1 241886728 241886728 single base substitution C A missense_variant S385Y 1154C>A LUSC-US 1 241901755 241901755 single base substitution A C exon_variant LUSC-US 1 241901755 241901755 single base substitution A C missense_variant M190L 568A>C LUSC-US 1 241901755 241901755 single base substitution A C missense_variant M419L 1255A>C LUSC-US 1 241901755 241901755 single base substitution A C upstream_gene_variant LUSC-US 1 241901793 241901793 single base substitution T C splice_donor_variant LUSC-US 1 241901793 241901793 single base substitution T C upstream_gene_variant LUSC-US 1 241904845 241904845 single base substitution T C exon_variant LUSC-US 1 241904845 241904845 single base substitution T C missense_variant L211S 632T>C LUSC-US 1 241904845 241904845 single base substitution T C missense_variant L440S 1319T>C LUSC-US 1 241904845 241904845 single base substitution T C upstream_gene_variant LUSC-US 1 241912978 241912978 single base substitution A T exon_variant LUSC-US 1 241912978 241912978 single base substitution A T intron_variant LUSC-US 1 241912978 241912978 single base substitution A T missense_variant Q336L 1007A>T LUSC-US 1 241912978 241912978 single base substitution A T missense_variant Q43L 128A>T LUSC-US 1 241912978 241912978 single base substitution A T missense_variant Q565L 1694A>T LUSC-US 1 241929537 241929537 single base substitution A G 3_prime_UTR_variant LUSC-US 1 241929537 241929537 single base substitution A G exon_variant LUSC-US 1 241929537 241929537 single base substitution A G synonymous_variant L123L 369A>G LUSC-US 1 241929537 241929537 single base substitution A G synonymous_variant L416L 1248A>G LUSC-US 1 241929537 241929537 single base substitution A G synonymous_variant L645L 1935A>G LUSC-US 1 241929537 241929537 single base substitution A G upstream_gene_variant LUSC-US 1 241953957 241953957 single base substitution G A 3_prime_UTR_variant LUSC-US 1 241953957 241953957 single base substitution G A downstream_gene_variant LUSC-US 1 241953957 241953957 single base substitution G A intron_variant LUSC-US 1 241953957 241953957 single base substitution G A missense_variant E454K 1360G>A LUSC-US 1 241953957 241953957 single base substitution G A missense_variant E580K 1738G>A LUSC-US 1 241953957 241953957 single base substitution G A missense_variant E809K 2425G>A LUSC-US 1 241953957 241953957 single base substitution G A missense_variant E976K 2926G>A LUSC-US 1 241964483 241964483 single base substitution T A 3_prime_UTR_variant LUSC-US 1 241964483 241964483 single base substitution T A downstream_gene_variant LUSC-US 1 241964483 241964483 single base substitution T A missense_variant L1071Q 3212T>A LUSC-US 1 241964483 241964483 single base substitution T A missense_variant L549Q 1646T>A LUSC-US 1 241964483 241964483 single base substitution T A missense_variant L675Q 2024T>A LUSC-US 1 241964483 241964483 single base substitution T A missense_variant L904Q 2711T>A MALY-DE 1 241816142 241816142 insertion of <=200bp - G intron_variant MALY-DE 1 241827167 241827167 single base substitution A G intron_variant MALY-DE 1 241828143 241828143 single base substitution G A intron_variant MALY-DE 1 241829938 241829938 single base substitution C T intron_variant MALY-DE 1 241831028 241831028 single base substitution T G intron_variant MALY-DE 1 241836642 241836642 single base substitution T A intron_variant MALY-DE 1 241839655 241839655 single base substitution G C exon_variant MALY-DE 1 241839655 241839655 single base substitution G C intron_variant MALY-DE 1 241839997 241839997 single base substitution T G downstream_gene_variant MALY-DE 1 241839997 241839997 single base substitution T G intron_variant MALY-DE 1 241842199 241842199 single base substitution G T downstream_gene_variant MALY-DE 1 241842199 241842199 single base substitution G T intron_variant MALY-DE 1 241842199 241842199 single base substitution G T upstream_gene_variant MALY-DE 1 241844751 241844751 single base substitution A G intron_variant MALY-DE 1 241844751 241844751 single base substitution A G upstream_gene_variant MALY-DE 1 241846605 241846605 single base substitution G T intron_variant MALY-DE 1 241846605 241846605 single base substitution G T upstream_gene_variant MALY-DE 1 241849877 241849877 single base substitution A G downstream_gene_variant MALY-DE 1 241849877 241849877 single base substitution A G intron_variant MALY-DE 1 241852848 241852848 single base substitution T C intron_variant MALY-DE 1 241854430 241854430 single base substitution A C intron_variant MALY-DE 1 241855105 241855105 single base substitution C T intron_variant MALY-DE 1 241858571 241858571 single base substitution T A intron_variant MALY-DE 1 241859416 241859427 deletion of <=200bp AAAAAAAAAAAA - intron_variant MALY-DE 1 241859554 241859554 single base substitution C A intron_variant MALY-DE 1 241865930 241865930 single base substitution A G intron_variant MALY-DE 1 241870803 241870803 single base substitution T G intron_variant MALY-DE 1 241873705 241873705 deletion of <=200bp T - intron_variant MALY-DE 1 241874908 241874908 single base substitution C T intron_variant MALY-DE 1 241878114 241878114 single base substitution C T intron_variant MALY-DE 1 241882694 241882694 single base substitution G A intron_variant MALY-DE 1 241884656 241884656 deletion of <=200bp T - intron_variant MALY-DE 1 241891486 241891486 single base substitution T G intron_variant MALY-DE 1 241895534 241895534 single base substitution A T intron_variant MALY-DE 1 241906311 241906311 single base substitution A G intron_variant MALY-DE 1 241906908 241906908 single base substitution T G intron_variant MALY-DE 1 241907428 241907428 single base substitution G A intron_variant MALY-DE 1 241914277 241914277 single base substitution T G intron_variant MALY-DE 1 241916801 241916801 single base substitution T G intron_variant MALY-DE 1 241923633 241923633 insertion of <=200bp - AT intron_variant MALY-DE 1 241925500 241925502 deletion of <=200bp GCA - intron_variant MALY-DE 1 241926077 241926077 insertion of <=200bp - A intron_variant MALY-DE 1 241927117 241927117 single base substitution A G intron_variant MALY-DE 1 241930057 241930057 single base substitution T C intron_variant MALY-DE 1 241930057 241930057 single base substitution T C upstream_gene_variant MALY-DE 1 241933082 241933082 single base substitution C T intron_variant MALY-DE 1 241933082 241933082 single base substitution C T upstream_gene_variant MALY-DE 1 241935430 241935430 single base substitution C T intron_variant MALY-DE 1 241937275 241937275 single base substitution T C intron_variant MALY-DE 1 241937862 241937862 single base substitution G A intron_variant MALY-DE 1 241944317 241944317 insertion of <=200bp - AACAAA intron_variant MALY-DE 1 241946487 241946487 single base substitution G T intron_variant MALY-DE 1 241946829 241946829 single base substitution T A intron_variant MALY-DE 1 241949208 241949208 single base substitution G T intron_variant MALY-DE 1 241958646 241958646 single base substitution T C intron_variant MALY-DE 1 241958647 241958647 single base substitution C T intron_variant MALY-DE 1 241958697 241958697 single base substitution G T intron_variant MALY-DE 1 241959425 241959425 single base substitution C T intron_variant MALY-DE 1 241962625 241962625 single base substitution G T downstream_gene_variant MALY-DE 1 241962625 241962625 single base substitution G T intron_variant MALY-DE 1 241964106 241964106 single base substitution C T downstream_gene_variant MALY-DE 1 241964106 241964106 single base substitution C T intron_variant MALY-DE 1 241970040 241970040 single base substitution C T downstream_gene_variant MELA-AU 1 241810666 241810666 single base substitution C T upstream_gene_variant MELA-AU 1 241810697 241810697 single base substitution A G upstream_gene_variant MELA-AU 1 241811503 241811503 single base substitution T A upstream_gene_variant MELA-AU 1 241812690 241812690 single base substitution A G upstream_gene_variant MELA-AU 1 241812793 241812793 single base substitution A T upstream_gene_variant MELA-AU 1 241813480 241813480 single base substitution G A upstream_gene_variant MELA-AU 1 241813596 241813596 single base substitution T A upstream_gene_variant MELA-AU 1 241814788 241814788 single base substitution C T upstream_gene_variant MELA-AU 1 241814809 241814809 single base substitution C T upstream_gene_variant MELA-AU 1 241814920 241814920 single base substitution C T upstream_gene_variant MELA-AU 1 241814921 241814921 single base substitution G A upstream_gene_variant MELA-AU 1 241815341 241815341 single base substitution C T upstream_gene_variant MELA-AU 1 241815377 241815377 single base substitution C T upstream_gene_variant MELA-AU 1 241815378 241815379 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 241815440 241815440 single base substitution G A upstream_gene_variant MELA-AU 1 241816654 241816654 single base substitution A G intron_variant MELA-AU 1 241816879 241816879 single base substitution C T intron_variant MELA-AU 1 241816880 241816880 single base substitution C T intron_variant MELA-AU 1 241816882 241816882 single base substitution A G intron_variant MELA-AU 1 241817219 241817219 single base substitution C T intron_variant MELA-AU 1 241817419 241817419 single base substitution C T intron_variant MELA-AU 1 241817625 241817625 single base substitution C T intron_variant MELA-AU 1 241817750 241817750 single base substitution C T intron_variant MELA-AU 1 241817756 241817756 single base substitution C T intron_variant MELA-AU 1 241817837 241817837 single base substitution C T intron_variant MELA-AU 1 241817867 241817867 single base substitution C T intron_variant MELA-AU 1 241818270 241818270 single base substitution A T intron_variant MELA-AU 1 241818760 241818760 single base substitution C T intron_variant MELA-AU 1 241819003 241819003 insertion of <=200bp - TTTTCT intron_variant MELA-AU 1 241819003 241819003 insertion of <=200bp - TTTTCT upstream_gene_variant MELA-AU 1 241819199 241819199 single base substitution C T intron_variant MELA-AU 1 241819199 241819199 single base substitution C T upstream_gene_variant MELA-AU 1 241819373 241819373 single base substitution C T intron_variant MELA-AU 1 241819373 241819373 single base substitution C T upstream_gene_variant MELA-AU 1 241820218 241820218 single base substitution C T intron_variant MELA-AU 1 241820218 241820218 single base substitution C T upstream_gene_variant MELA-AU 1 241820438 241820438 single base substitution G A intron_variant MELA-AU 1 241820438 241820438 single base substitution G A upstream_gene_variant MELA-AU 1 241821617 241821617 single base substitution A G intron_variant MELA-AU 1 241821617 241821617 single base substitution A G upstream_gene_variant MELA-AU 1 241822178 241822178 single base substitution C T intron_variant MELA-AU 1 241822178 241822178 single base substitution C T upstream_gene_variant MELA-AU 1 241822225 241822225 single base substitution G A intron_variant MELA-AU 1 241822225 241822225 single base substitution G A upstream_gene_variant MELA-AU 1 241822413 241822413 single base substitution C T intron_variant MELA-AU 1 241822413 241822413 single base substitution C T upstream_gene_variant MELA-AU 1 241822506 241822506 single base substitution C T intron_variant MELA-AU 1 241822506 241822506 single base substitution C T upstream_gene_variant MELA-AU 1 241823146 241823146 single base substitution C T intron_variant MELA-AU 1 241823146 241823146 single base substitution C T upstream_gene_variant MELA-AU 1 241823172 241823172 single base substitution C T intron_variant MELA-AU 1 241823172 241823172 single base substitution C T upstream_gene_variant MELA-AU 1 241823325 241823325 single base substitution G A intron_variant MELA-AU 1 241823325 241823325 single base substitution G A upstream_gene_variant MELA-AU 1 241823519 241823519 single base substitution C T intron_variant MELA-AU 1 241823519 241823519 single base substitution C T upstream_gene_variant MELA-AU 1 241823688 241823688 single base substitution G A intron_variant MELA-AU 1 241823688 241823688 single base substitution G A upstream_gene_variant MELA-AU 1 241823862 241823862 single base substitution C T exon_variant MELA-AU 1 241823862 241823862 single base substitution C T missense_variant S59L 176C>T MELA-AU 1 241823862 241823862 single base substitution C T upstream_gene_variant MELA-AU 1 241823900 241823900 single base substitution G A exon_variant MELA-AU 1 241823900 241823900 single base substitution G A missense_variant D72N 214G>A MELA-AU 1 241823900 241823900 single base substitution G A upstream_gene_variant MELA-AU 1 241823975 241823975 single base substitution C T exon_variant MELA-AU 1 241823975 241823975 single base substitution C T intron_variant MELA-AU 1 241824183 241824183 single base substitution C T intron_variant MELA-AU 1 241824196 241824196 single base substitution C T intron_variant MELA-AU 1 241824421 241824421 single base substitution C T intron_variant MELA-AU 1 241824514 241824514 single base substitution G A intron_variant MELA-AU 1 241824555 241824555 single base substitution G A intron_variant MELA-AU 1 241824657 241824657 single base substitution A T intron_variant MELA-AU 1 241824668 241824668 single base substitution A T intron_variant MELA-AU 1 241824987 241824987 single base substitution A T intron_variant MELA-AU 1 241825521 241825521 single base substitution C T intron_variant MELA-AU 1 241825541 241825541 single base substitution A T intron_variant MELA-AU 1 241825573 241825573 single base substitution C T intron_variant MELA-AU 1 241825842 241825842 single base substitution C T intron_variant MELA-AU 1 241826206 241826206 single base substitution G A intron_variant MELA-AU 1 241826341 241826341 single base substitution G A intron_variant MELA-AU 1 241826443 241826443 single base substitution G A intron_variant MELA-AU 1 241826529 241826529 single base substitution C T intron_variant MELA-AU 1 241826681 241826681 single base substitution C T intron_variant MELA-AU 1 241826836 241826836 single base substitution C T intron_variant MELA-AU 1 241827179 241827179 single base substitution C T intron_variant MELA-AU 1 241827411 241827411 single base substitution A C intron_variant MELA-AU 1 241827484 241827484 single base substitution C T intron_variant MELA-AU 1 241828050 241828050 single base substitution G A intron_variant MELA-AU 1 241828149 241828149 single base substitution C T intron_variant MELA-AU 1 241828246 241828246 single base substitution C T intron_variant MELA-AU 1 241828436 241828436 single base substitution C T intron_variant MELA-AU 1 241828907 241828907 single base substitution C T intron_variant MELA-AU 1 241829371 241829371 single base substitution A T intron_variant MELA-AU 1 241829667 241829667 single base substitution T C intron_variant MELA-AU 1 241830130 241830130 single base substitution G A intron_variant MELA-AU 1 241830149 241830149 single base substitution C T intron_variant MELA-AU 1 241830192 241830192 single base substitution G A intron_variant MELA-AU 1 241830202 241830202 single base substitution G A intron_variant MELA-AU 1 241830283 241830283 single base substitution G A intron_variant MELA-AU 1 241830415 241830415 single base substitution G A intron_variant MELA-AU 1 241830463 241830463 single base substitution C T intron_variant MELA-AU 1 241831035 241831035 single base substitution T C intron_variant MELA-AU 1 241831149 241831149 single base substitution G A intron_variant MELA-AU 1 241831524 241831524 single base substitution C T intron_variant MELA-AU 1 241831583 241831583 single base substitution G A intron_variant MELA-AU 1 241831594 241831594 single base substitution G A intron_variant MELA-AU 1 241831607 241831607 single base substitution C T intron_variant MELA-AU 1 241831681 241831681 single base substitution G A intron_variant MELA-AU 1 241831688 241831688 single base substitution G A intron_variant MELA-AU 1 241832239 241832239 single base substitution C T intron_variant MELA-AU 1 241832275 241832275 single base substitution T A intron_variant MELA-AU 1 241832319 241832319 single base substitution G A intron_variant MELA-AU 1 241832497 241832498 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 241832613 241832613 single base substitution G A intron_variant MELA-AU 1 241832738 241832738 single base substitution C T intron_variant MELA-AU 1 241832873 241832873 single base substitution G A intron_variant MELA-AU 1 241833055 241833055 single base substitution C T intron_variant MELA-AU 1 241833066 241833066 single base substitution C G intron_variant MELA-AU 1 241833371 241833371 single base substitution C T intron_variant MELA-AU 1 241833544 241833545 multiple base substitution (>=2bp and <=200bp) CA TT intron_variant MELA-AU 1 241833791 241833791 single base substitution C T intron_variant MELA-AU 1 241833792 241833792 single base substitution G A intron_variant MELA-AU 1 241833971 241833971 single base substitution G A intron_variant MELA-AU 1 241834083 241834083 single base substitution C A intron_variant MELA-AU 1 241834084 241834084 single base substitution C T intron_variant MELA-AU 1 241834554 241834554 single base substitution C T intron_variant MELA-AU 1 241835261 241835261 single base substitution G A intron_variant MELA-AU 1 241835402 241835402 single base substitution C T intron_variant MELA-AU 1 241835920 241835920 single base substitution T C intron_variant MELA-AU 1 241836313 241836313 single base substitution G A intron_variant MELA-AU 1 241836315 241836315 single base substitution C T intron_variant MELA-AU 1 241836331 241836331 single base substitution C T intron_variant MELA-AU 1 241836545 241836545 single base substitution A T intron_variant MELA-AU 1 241836904 241836904 single base substitution C T intron_variant MELA-AU 1 241836925 241836925 single base substitution T A intron_variant MELA-AU 1 241836940 241836940 single base substitution G A intron_variant MELA-AU 1 241837006 241837006 single base substitution A C intron_variant MELA-AU 1 241837020 241837020 single base substitution C T intron_variant MELA-AU 1 241837547 241837547 single base substitution T G intron_variant MELA-AU 1 241837591 241837591 single base substitution C T intron_variant MELA-AU 1 241837650 241837650 single base substitution C T intron_variant MELA-AU 1 241838747 241838747 single base substitution C T intron_variant MELA-AU 1 241839407 241839407 single base substitution G A exon_variant MELA-AU 1 241839407 241839407 single base substitution G A intron_variant MELA-AU 1 241839633 241839633 single base substitution C T exon_variant MELA-AU 1 241839633 241839633 single base substitution C T intron_variant MELA-AU 1 241839712 241839712 single base substitution A C downstream_gene_variant MELA-AU 1 241839712 241839712 single base substitution A C intron_variant MELA-AU 1 241839718 241839718 single base substitution T A downstream_gene_variant MELA-AU 1 241839718 241839718 single base substitution T A intron_variant MELA-AU 1 241840023 241840023 single base substitution G A downstream_gene_variant MELA-AU 1 241840023 241840023 single base substitution G A intron_variant MELA-AU 1 241840081 241840081 single base substitution C T downstream_gene_variant MELA-AU 1 241840081 241840081 single base substitution C T intron_variant MELA-AU 1 241840543 241840543 single base substitution C T downstream_gene_variant MELA-AU 1 241840543 241840543 single base substitution C T intron_variant MELA-AU 1 241840893 241840893 single base substitution G A downstream_gene_variant MELA-AU 1 241840893 241840893 single base substitution G A intron_variant MELA-AU 1 241841156 241841156 single base substitution C T downstream_gene_variant MELA-AU 1 241841156 241841156 single base substitution C T intron_variant MELA-AU 1 241841210 241841210 single base substitution G A downstream_gene_variant MELA-AU 1 241841210 241841210 single base substitution G A intron_variant MELA-AU 1 241841959 241841959 single base substitution G A downstream_gene_variant MELA-AU 1 241841959 241841959 single base substitution G A intron_variant MELA-AU 1 241841959 241841959 single base substitution G A upstream_gene_variant MELA-AU 1 241842202 241842202 single base substitution A G downstream_gene_variant MELA-AU 1 241842202 241842202 single base substitution A G intron_variant MELA-AU 1 241842202 241842202 single base substitution A G upstream_gene_variant MELA-AU 1 241842435 241842435 single base substitution C T downstream_gene_variant MELA-AU 1 241842435 241842435 single base substitution C T intron_variant MELA-AU 1 241842435 241842435 single base substitution C T upstream_gene_variant MELA-AU 1 241842659 241842659 single base substitution C T downstream_gene_variant MELA-AU 1 241842659 241842659 single base substitution C T intron_variant MELA-AU 1 241842659 241842659 single base substitution C T upstream_gene_variant MELA-AU 1 241842833 241842833 single base substitution G A downstream_gene_variant MELA-AU 1 241842833 241842833 single base substitution G A exon_variant MELA-AU 1 241842833 241842833 single base substitution G A missense_variant R177Q 530G>A MELA-AU 1 241842833 241842833 single base substitution G A upstream_gene_variant MELA-AU 1 241843684 241843684 single base substitution G A downstream_gene_variant MELA-AU 1 241843684 241843684 single base substitution G A intron_variant MELA-AU 1 241843684 241843684 single base substitution G A upstream_gene_variant MELA-AU 1 241843749 241843749 single base substitution C T downstream_gene_variant MELA-AU 1 241843749 241843749 single base substitution C T intron_variant MELA-AU 1 241843749 241843749 single base substitution C T upstream_gene_variant MELA-AU 1 241843852 241843852 single base substitution C T downstream_gene_variant MELA-AU 1 241843852 241843852 single base substitution C T intron_variant MELA-AU 1 241843852 241843852 single base substitution C T upstream_gene_variant MELA-AU 1 241843978 241843978 single base substitution C T downstream_gene_variant MELA-AU 1 241843978 241843978 single base substitution C T intron_variant MELA-AU 1 241843978 241843978 single base substitution C T upstream_gene_variant MELA-AU 1 241843984 241843984 single base substitution A G downstream_gene_variant MELA-AU 1 241843984 241843984 single base substitution A G intron_variant MELA-AU 1 241843984 241843984 single base substitution A G upstream_gene_variant MELA-AU 1 241843992 241843992 single base substitution G A downstream_gene_variant MELA-AU 1 241843992 241843992 single base substitution G A intron_variant MELA-AU 1 241843992 241843992 single base substitution G A upstream_gene_variant MELA-AU 1 241844396 241844396 single base substitution C T downstream_gene_variant MELA-AU 1 241844396 241844396 single base substitution C T intron_variant MELA-AU 1 241844396 241844396 single base substitution C T upstream_gene_variant MELA-AU 1 241844494 241844494 single base substitution G A downstream_gene_variant MELA-AU 1 241844494 241844494 single base substitution G A intron_variant MELA-AU 1 241844494 241844494 single base substitution G A upstream_gene_variant MELA-AU 1 241844564 241844564 single base substitution C T downstream_gene_variant MELA-AU 1 241844564 241844564 single base substitution C T intron_variant MELA-AU 1 241844564 241844564 single base substitution C T upstream_gene_variant MELA-AU 1 241844571 241844571 single base substitution C T downstream_gene_variant MELA-AU 1 241844571 241844571 single base substitution C T intron_variant MELA-AU 1 241844571 241844571 single base substitution C T upstream_gene_variant MELA-AU 1 241844596 241844596 single base substitution C T downstream_gene_variant MELA-AU 1 241844596 241844596 single base substitution C T intron_variant MELA-AU 1 241844596 241844596 single base substitution C T upstream_gene_variant MELA-AU 1 241844656 241844656 single base substitution G A downstream_gene_variant MELA-AU 1 241844656 241844656 single base substitution G A intron_variant MELA-AU 1 241844656 241844656 single base substitution G A upstream_gene_variant MELA-AU 1 241844993 241844993 single base substitution A G intron_variant MELA-AU 1 241844993 241844993 single base substitution A G upstream_gene_variant MELA-AU 1 241845006 241845006 single base substitution T A intron_variant MELA-AU 1 241845006 241845006 single base substitution T A upstream_gene_variant MELA-AU 1 241845009 241845009 single base substitution C T intron_variant MELA-AU 1 241845009 241845009 single base substitution C T upstream_gene_variant MELA-AU 1 241845021 241845021 single base substitution T C intron_variant MELA-AU 1 241845021 241845021 single base substitution T C upstream_gene_variant MELA-AU 1 241845260 241845260 single base substitution C T intron_variant MELA-AU 1 241845260 241845260 single base substitution C T upstream_gene_variant MELA-AU 1 241845440 241845440 single base substitution C T intron_variant MELA-AU 1 241845440 241845440 single base substitution C T upstream_gene_variant MELA-AU 1 241845490 241845490 single base substitution G A intron_variant MELA-AU 1 241845490 241845490 single base substitution G A upstream_gene_variant MELA-AU 1 241845624 241845624 single base substitution C T intron_variant MELA-AU 1 241845624 241845624 single base substitution C T upstream_gene_variant MELA-AU 1 241845631 241845631 single base substitution C T intron_variant MELA-AU 1 241845631 241845631 single base substitution C T upstream_gene_variant MELA-AU 1 241846020 241846020 single base substitution C T intron_variant MELA-AU 1 241846020 241846020 single base substitution C T upstream_gene_variant MELA-AU 1 241846254 241846254 single base substitution A C intron_variant MELA-AU 1 241846254 241846254 single base substitution A C upstream_gene_variant MELA-AU 1 241846290 241846290 single base substitution T C intron_variant MELA-AU 1 241846290 241846290 single base substitution T C upstream_gene_variant MELA-AU 1 241846535 241846535 single base substitution C T intron_variant MELA-AU 1 241846535 241846535 single base substitution C T upstream_gene_variant MELA-AU 1 241846571 241846571 single base substitution C T intron_variant MELA-AU 1 241846571 241846571 single base substitution C T upstream_gene_variant MELA-AU 1 241846576 241846576 single base substitution C T intron_variant MELA-AU 1 241846576 241846576 single base substitution C T upstream_gene_variant MELA-AU 1 241846590 241846590 single base substitution C T intron_variant MELA-AU 1 241846590 241846590 single base substitution C T upstream_gene_variant MELA-AU 1 241846779 241846779 single base substitution C T intron_variant MELA-AU 1 241846779 241846779 single base substitution C T upstream_gene_variant MELA-AU 1 241846858 241846858 single base substitution C T exon_variant MELA-AU 1 241846858 241846858 single base substitution C T missense_variant H222Y 664C>T MELA-AU 1 241846858 241846858 single base substitution C T upstream_gene_variant MELA-AU 1 241846955 241846955 single base substitution C T exon_variant MELA-AU 1 241846955 241846955 single base substitution C T missense_variant S254F 761C>T MELA-AU 1 241846955 241846955 single base substitution C T missense_variant S25F 74C>T MELA-AU 1 241847399 241847399 single base substitution G A downstream_gene_variant MELA-AU 1 241847399 241847399 single base substitution G A intron_variant MELA-AU 1 241847680 241847680 single base substitution A G downstream_gene_variant MELA-AU 1 241847680 241847680 single base substitution A G intron_variant MELA-AU 1 241847940 241847940 single base substitution C T downstream_gene_variant MELA-AU 1 241847940 241847940 single base substitution C T intron_variant MELA-AU 1 241847961 241847961 single base substitution C T downstream_gene_variant MELA-AU 1 241847961 241847961 single base substitution C T intron_variant MELA-AU 1 241848134 241848134 single base substitution C T downstream_gene_variant MELA-AU 1 241848134 241848134 single base substitution C T intron_variant MELA-AU 1 241848259 241848259 single base substitution C T downstream_gene_variant MELA-AU 1 241848259 241848259 single base substitution C T intron_variant MELA-AU 1 241848286 241848286 single base substitution C T downstream_gene_variant MELA-AU 1 241848286 241848286 single base substitution C T intron_variant MELA-AU 1 241848287 241848287 single base substitution C T downstream_gene_variant MELA-AU 1 241848287 241848287 single base substitution C T intron_variant MELA-AU 1 241848551 241848552 multiple base substitution (>=2bp and <=200bp) AA TT downstream_gene_variant MELA-AU 1 241848551 241848552 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 1 241848964 241848964 single base substitution T G downstream_gene_variant MELA-AU 1 241848964 241848964 single base substitution T G intron_variant MELA-AU 1 241849158 241849158 single base substitution C T downstream_gene_variant MELA-AU 1 241849158 241849158 single base substitution C T intron_variant MELA-AU 1 241849478 241849478 single base substitution G A downstream_gene_variant MELA-AU 1 241849478 241849478 single base substitution G A intron_variant MELA-AU 1 241849555 241849555 single base substitution C T downstream_gene_variant MELA-AU 1 241849555 241849555 single base substitution C T intron_variant MELA-AU 1 241849660 241849660 single base substitution G A downstream_gene_variant MELA-AU 1 241849660 241849660 single base substitution G A intron_variant MELA-AU 1 241849681 241849681 single base substitution C T downstream_gene_variant MELA-AU 1 241849681 241849681 single base substitution C T intron_variant MELA-AU 1 241849936 241849936 single base substitution G A downstream_gene_variant MELA-AU 1 241849936 241849936 single base substitution G A intron_variant MELA-AU 1 241849993 241849993 single base substitution C T downstream_gene_variant MELA-AU 1 241849993 241849993 single base substitution C T intron_variant MELA-AU 1 241850210 241850210 single base substitution G A downstream_gene_variant MELA-AU 1 241850210 241850210 single base substitution G A intron_variant MELA-AU 1 241850854 241850854 single base substitution C T downstream_gene_variant MELA-AU 1 241850854 241850854 single base substitution C T exon_variant MELA-AU 1 241850854 241850854 single base substitution C T missense_variant H301Y 901C>T MELA-AU 1 241850854 241850854 single base substitution C T missense_variant H72Y 214C>T MELA-AU 1 241851154 241851154 single base substitution G A downstream_gene_variant MELA-AU 1 241851154 241851154 single base substitution G A intron_variant MELA-AU 1 241851526 241851526 single base substitution A C downstream_gene_variant MELA-AU 1 241851526 241851526 single base substitution A C intron_variant MELA-AU 1 241851547 241851547 single base substitution G A downstream_gene_variant MELA-AU 1 241851547 241851547 single base substitution G A intron_variant MELA-AU 1 241851900 241851900 single base substitution C T downstream_gene_variant MELA-AU 1 241851900 241851900 single base substitution C T intron_variant MELA-AU 1 241851978 241851978 single base substitution G A intron_variant MELA-AU 1 241852105 241852105 single base substitution G A intron_variant MELA-AU 1 241852277 241852277 single base substitution C T intron_variant MELA-AU 1 241852345 241852345 single base substitution G A intron_variant MELA-AU 1 241853200 241853200 single base substitution G A intron_variant MELA-AU 1 241853214 241853214 single base substitution A T intron_variant MELA-AU 1 241853655 241853655 single base substitution C T intron_variant MELA-AU 1 241853680 241853680 single base substitution G A intron_variant MELA-AU 1 241854435 241854435 single base substitution G A intron_variant MELA-AU 1 241855209 241855209 single base substitution G A intron_variant MELA-AU 1 241855216 241855216 single base substitution G A intron_variant MELA-AU 1 241855451 241855451 single base substitution G T intron_variant MELA-AU 1 241856053 241856053 single base substitution G A intron_variant MELA-AU 1 241856250 241856250 single base substitution A T intron_variant MELA-AU 1 241856321 241856321 single base substitution G A intron_variant MELA-AU 1 241856541 241856541 single base substitution A T intron_variant MELA-AU 1 241856671 241856671 single base substitution G A intron_variant MELA-AU 1 241856773 241856773 single base substitution G A intron_variant MELA-AU 1 241857085 241857085 single base substitution C T intron_variant MELA-AU 1 241857350 241857350 single base substitution C T intron_variant MELA-AU 1 241857706 241857706 single base substitution T C intron_variant MELA-AU 1 241858269 241858269 single base substitution G A intron_variant MELA-AU 1 241858898 241858898 single base substitution C T intron_variant MELA-AU 1 241858918 241858918 single base substitution G A intron_variant MELA-AU 1 241859207 241859208 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 241859375 241859375 single base substitution C A intron_variant MELA-AU 1 241859530 241859530 single base substitution C T intron_variant MELA-AU 1 241859739 241859739 single base substitution G A intron_variant MELA-AU 1 241860068 241860068 single base substitution G A intron_variant MELA-AU 1 241860075 241860075 single base substitution C T intron_variant MELA-AU 1 241860099 241860099 single base substitution T A intron_variant MELA-AU 1 241860118 241860118 single base substitution G A intron_variant MELA-AU 1 241860564 241860564 single base substitution G A intron_variant MELA-AU 1 241860584 241860584 single base substitution G A intron_variant MELA-AU 1 241860645 241860645 single base substitution C T intron_variant MELA-AU 1 241860929 241860929 single base substitution G A intron_variant MELA-AU 1 241860945 241860945 single base substitution C T intron_variant MELA-AU 1 241860962 241860962 single base substitution C T intron_variant MELA-AU 1 241861241 241861241 single base substitution C T intron_variant MELA-AU 1 241861597 241861597 single base substitution C T intron_variant MELA-AU 1 241861660 241861660 single base substitution T A intron_variant MELA-AU 1 241861794 241861794 single base substitution T C intron_variant MELA-AU 1 241861969 241861969 single base substitution G A intron_variant MELA-AU 1 241862021 241862021 single base substitution C T intron_variant MELA-AU 1 241862108 241862108 single base substitution C T intron_variant MELA-AU 1 241862601 241862601 single base substitution C T intron_variant MELA-AU 1 241862869 241862869 single base substitution G A intron_variant MELA-AU 1 241862896 241862896 single base substitution G A intron_variant MELA-AU 1 241862940 241862940 single base substitution G T intron_variant MELA-AU 1 241863562 241863562 single base substitution C T intron_variant MELA-AU 1 241864129 241864129 single base substitution G A intron_variant MELA-AU 1 241864251 241864251 single base substitution A G intron_variant MELA-AU 1 241864330 241864330 single base substitution T C intron_variant MELA-AU 1 241864571 241864571 single base substitution C T intron_variant MELA-AU 1 241865272 241865272 single base substitution A C intron_variant MELA-AU 1 241866143 241866143 single base substitution T C intron_variant MELA-AU 1 241866313 241866313 single base substitution G A intron_variant MELA-AU 1 241866381 241866381 single base substitution A T intron_variant MELA-AU 1 241866684 241866684 single base substitution G A intron_variant MELA-AU 1 241866866 241866866 single base substitution G A intron_variant MELA-AU 1 241867096 241867096 single base substitution G A intron_variant MELA-AU 1 241867261 241867262 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 241867449 241867449 single base substitution G A intron_variant MELA-AU 1 241867502 241867502 single base substitution C T intron_variant MELA-AU 1 241867523 241867523 single base substitution C T intron_variant MELA-AU 1 241867611 241867611 single base substitution G A intron_variant MELA-AU 1 241867643 241867643 single base substitution G A intron_variant MELA-AU 1 241868068 241868068 single base substitution T A intron_variant MELA-AU 1 241868218 241868218 single base substitution G A intron_variant MELA-AU 1 241868274 241868274 single base substitution G A intron_variant MELA-AU 1 241868321 241868321 single base substitution G A intron_variant MELA-AU 1 241868518 241868518 single base substitution C T intron_variant MELA-AU 1 241868645 241868645 single base substitution C T intron_variant MELA-AU 1 241868728 241868728 single base substitution C G intron_variant MELA-AU 1 241868765 241868765 single base substitution A G intron_variant MELA-AU 1 241869368 241869368 single base substitution C T intron_variant MELA-AU 1 241869734 241869734 single base substitution C T intron_variant MELA-AU 1 241870375 241870375 single base substitution C T intron_variant MELA-AU 1 241870500 241870500 single base substitution C T intron_variant MELA-AU 1 241870504 241870505 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 241870816 241870816 single base substitution A G intron_variant MELA-AU 1 241871126 241871126 single base substitution A G intron_variant MELA-AU 1 241871144 241871144 single base substitution G A intron_variant MELA-AU 1 241871290 241871290 single base substitution C T intron_variant MELA-AU 1 241871467 241871467 single base substitution C T intron_variant MELA-AU 1 241871814 241871840 deletion of <=200bp CCATGTTGGCCAGGCTGGTCTCGACCT - intron_variant MELA-AU 1 241871836 241871836 single base substitution G A intron_variant MELA-AU 1 241871956 241871956 single base substitution G A intron_variant MELA-AU 1 241871980 241871980 single base substitution G A intron_variant MELA-AU 1 241872773 241872773 single base substitution C T intron_variant MELA-AU 1 241873014 241873014 single base substitution G A intron_variant MELA-AU 1 241873015 241873015 single base substitution G C intron_variant MELA-AU 1 241873172 241873172 single base substitution G A intron_variant MELA-AU 1 241873236 241873236 single base substitution G A intron_variant MELA-AU 1 241873471 241873471 single base substitution C T intron_variant MELA-AU 1 241873764 241873764 single base substitution T G intron_variant MELA-AU 1 241874161 241874161 single base substitution G A intron_variant MELA-AU 1 241874328 241874328 single base substitution C A intron_variant MELA-AU 1 241874426 241874426 single base substitution C A intron_variant MELA-AU 1 241874507 241874507 single base substitution C T intron_variant MELA-AU 1 241874617 241874617 single base substitution C T intron_variant MELA-AU 1 241874831 241874831 single base substitution C T intron_variant MELA-AU 1 241874927 241874927 single base substitution G A intron_variant MELA-AU 1 241875450 241875450 single base substitution C T intron_variant MELA-AU 1 241875488 241875488 single base substitution C T intron_variant MELA-AU 1 241875819 241875819 single base substitution A T intron_variant MELA-AU 1 241876008 241876008 single base substitution C T intron_variant MELA-AU 1 241876211 241876211 single base substitution A G intron_variant MELA-AU 1 241876734 241876734 single base substitution G A intron_variant MELA-AU 1 241876743 241876743 single base substitution G A intron_variant MELA-AU 1 241876863 241876863 single base substitution G A intron_variant MELA-AU 1 241877003 241877003 single base substitution G A intron_variant MELA-AU 1 241877280 241877280 single base substitution G A intron_variant MELA-AU 1 241877404 241877404 single base substitution C T intron_variant MELA-AU 1 241877775 241877775 single base substitution G A intron_variant MELA-AU 1 241877780 241877780 single base substitution G A intron_variant MELA-AU 1 241878837 241878837 single base substitution G A intron_variant MELA-AU 1 241878844 241878844 single base substitution C T intron_variant MELA-AU 1 241879392 241879392 single base substitution C T intron_variant MELA-AU 1 241880059 241880059 single base substitution C T intron_variant MELA-AU 1 241880388 241880388 single base substitution A G intron_variant MELA-AU 1 241880448 241880448 single base substitution A T intron_variant MELA-AU 1 241880610 241880610 single base substitution G A intron_variant MELA-AU 1 241881106 241881106 single base substitution G A intron_variant MELA-AU 1 241881142 241881142 single base substitution C T intron_variant MELA-AU 1 241881646 241881646 single base substitution G A intron_variant MELA-AU 1 241882118 241882118 single base substitution T C intron_variant MELA-AU 1 241882155 241882155 single base substitution G A intron_variant MELA-AU 1 241882685 241882685 single base substitution A G intron_variant MELA-AU 1 241882706 241882706 single base substitution G A intron_variant MELA-AU 1 241882854 241882854 single base substitution C T intron_variant MELA-AU 1 241883213 241883213 single base substitution G A intron_variant MELA-AU 1 241883223 241883223 single base substitution C T intron_variant MELA-AU 1 241883261 241883261 single base substitution C T intron_variant MELA-AU 1 241883290 241883290 single base substitution C T intron_variant MELA-AU 1 241883291 241883291 single base substitution C T intron_variant MELA-AU 1 241883605 241883605 single base substitution C T intron_variant MELA-AU 1 241883733 241883733 single base substitution G A intron_variant MELA-AU 1 241883858 241883858 single base substitution G A intron_variant MELA-AU 1 241883869 241883869 single base substitution T A intron_variant MELA-AU 1 241884095 241884095 single base substitution C T intron_variant MELA-AU 1 241884149 241884149 single base substitution T C intron_variant MELA-AU 1 241884189 241884190 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 241884289 241884289 single base substitution G A intron_variant MELA-AU 1 241884351 241884351 single base substitution G A intron_variant MELA-AU 1 241884432 241884432 single base substitution C T intron_variant MELA-AU 1 241884448 241884448 single base substitution T C intron_variant MELA-AU 1 241884482 241884482 single base substitution C T intron_variant MELA-AU 1 241884523 241884523 single base substitution G A intron_variant MELA-AU 1 241884583 241884583 single base substitution C T intron_variant MELA-AU 1 241884663 241884663 single base substitution C T intron_variant MELA-AU 1 241885179 241885179 single base substitution G A intron_variant MELA-AU 1 241885220 241885220 single base substitution G A intron_variant MELA-AU 1 241885409 241885409 single base substitution C T intron_variant MELA-AU 1 241885474 241885474 single base substitution G A intron_variant MELA-AU 1 241885623 241885623 single base substitution G A intron_variant MELA-AU 1 241885625 241885625 single base substitution C T intron_variant MELA-AU 1 241885746 241885746 single base substitution C T intron_variant MELA-AU 1 241885760 241885760 single base substitution G A intron_variant MELA-AU 1 241885784 241885784 single base substitution C T intron_variant MELA-AU 1 241885876 241885876 single base substitution G A intron_variant MELA-AU 1 241886489 241886489 single base substitution G A intron_variant MELA-AU 1 241886583 241886583 single base substitution C T intron_variant MELA-AU 1 241886729 241886729 single base substitution C T exon_variant MELA-AU 1 241886729 241886729 single base substitution C T synonymous_variant S156S 468C>T MELA-AU 1 241886729 241886729 single base substitution C T synonymous_variant S385S 1155C>T MELA-AU 1 241886805 241886805 single base substitution G A intron_variant MELA-AU 1 241886809 241886809 single base substitution G A intron_variant MELA-AU 1 241886873 241886873 single base substitution G A intron_variant MELA-AU 1 241887025 241887025 single base substitution G A intron_variant MELA-AU 1 241887082 241887082 single base substitution C T intron_variant MELA-AU 1 241887205 241887205 single base substitution G A intron_variant MELA-AU 1 241887889 241887889 single base substitution C T intron_variant MELA-AU 1 241888207 241888207 single base substitution G A intron_variant MELA-AU 1 241888604 241888604 single base substitution G A intron_variant MELA-AU 1 241888747 241888747 single base substitution C T intron_variant MELA-AU 1 241888884 241888884 single base substitution G A intron_variant MELA-AU 1 241888899 241888899 single base substitution C T intron_variant MELA-AU 1 241889253 241889253 single base substitution G A intron_variant MELA-AU 1 241889422 241889422 single base substitution G A intron_variant MELA-AU 1 241889447 241889447 single base substitution C T intron_variant MELA-AU 1 241889508 241889508 single base substitution T A intron_variant MELA-AU 1 241889510 241889510 single base substitution A C intron_variant MELA-AU 1 241889875 241889875 single base substitution G A intron_variant MELA-AU 1 241889914 241889914 single base substitution C T intron_variant MELA-AU 1 241890684 241890684 single base substitution C T intron_variant MELA-AU 1 241890842 241890842 single base substitution C T intron_variant MELA-AU 1 241891285 241891285 single base substitution G A intron_variant MELA-AU 1 241891288 241891288 single base substitution G A intron_variant MELA-AU 1 241891641 241891641 single base substitution G A intron_variant MELA-AU 1 241891895 241891895 single base substitution G A intron_variant MELA-AU 1 241891941 241891941 single base substitution G A intron_variant MELA-AU 1 241892149 241892149 single base substitution G A intron_variant MELA-AU 1 241892378 241892378 single base substitution C T intron_variant MELA-AU 1 241892423 241892423 single base substitution C T intron_variant MELA-AU 1 241892556 241892556 single base substitution C T intron_variant MELA-AU 1 241892556 241892557 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 241892573 241892573 single base substitution G A intron_variant MELA-AU 1 241892745 241892745 single base substitution C T intron_variant MELA-AU 1 241892753 241892753 single base substitution T G intron_variant MELA-AU 1 241892758 241892758 single base substitution C T intron_variant MELA-AU 1 241892987 241892987 single base substitution C T intron_variant MELA-AU 1 241893084 241893084 single base substitution C T intron_variant MELA-AU 1 241893251 241893251 single base substitution G A intron_variant MELA-AU 1 241893259 241893259 single base substitution C T intron_variant MELA-AU 1 241893330 241893330 single base substitution G A intron_variant MELA-AU 1 241893607 241893607 single base substitution C T intron_variant MELA-AU 1 241893652 241893652 single base substitution A G intron_variant MELA-AU 1 241894037 241894037 single base substitution T A intron_variant MELA-AU 1 241894323 241894323 single base substitution C T intron_variant MELA-AU 1 241894534 241894535 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 241894574 241894574 single base substitution G A intron_variant MELA-AU 1 241895050 241895050 single base substitution C T intron_variant MELA-AU 1 241895078 241895078 single base substitution G A intron_variant MELA-AU 1 241895165 241895165 single base substitution A T intron_variant MELA-AU 1 241895401 241895401 single base substitution C T intron_variant MELA-AU 1 241896129 241896129 single base substitution A C intron_variant MELA-AU 1 241896794 241896794 insertion of <=200bp - AAGAAAAGAG intron_variant MELA-AU 1 241897148 241897148 single base substitution C T intron_variant MELA-AU 1 241897495 241897495 single base substitution C T intron_variant MELA-AU 1 241897628 241897628 single base substitution G A intron_variant MELA-AU 1 241897743 241897743 single base substitution C T intron_variant MELA-AU 1 241898565 241898565 single base substitution C T intron_variant MELA-AU 1 241898666 241898666 single base substitution G A intron_variant MELA-AU 1 241898690 241898690 single base substitution A T intron_variant MELA-AU 1 241898998 241898998 single base substitution G A intron_variant MELA-AU 1 241899157 241899157 single base substitution C G intron_variant MELA-AU 1 241899653 241899653 single base substitution A T intron_variant MELA-AU 1 241899655 241899655 single base substitution C T intron_variant MELA-AU 1 241899870 241899870 single base substitution G A intron_variant MELA-AU 1 241899870 241899870 single base substitution G A upstream_gene_variant MELA-AU 1 241900694 241900694 single base substitution C T intron_variant MELA-AU 1 241900694 241900694 single base substitution C T upstream_gene_variant MELA-AU 1 241900979 241900979 single base substitution A G intron_variant MELA-AU 1 241900979 241900979 single base substitution A G upstream_gene_variant MELA-AU 1 241901244 241901244 single base substitution C T intron_variant MELA-AU 1 241901244 241901244 single base substitution C T upstream_gene_variant MELA-AU 1 241901317 241901317 single base substitution G A intron_variant MELA-AU 1 241901317 241901317 single base substitution G A upstream_gene_variant MELA-AU 1 241901650 241901650 single base substitution T G intron_variant MELA-AU 1 241901650 241901650 single base substitution T G upstream_gene_variant MELA-AU 1 241902047 241902047 single base substitution G A intron_variant MELA-AU 1 241902047 241902047 single base substitution G A upstream_gene_variant MELA-AU 1 241902331 241902331 single base substitution C T intron_variant MELA-AU 1 241902331 241902331 single base substitution C T upstream_gene_variant MELA-AU 1 241902641 241902641 single base substitution C T intron_variant MELA-AU 1 241902641 241902641 single base substitution C T upstream_gene_variant MELA-AU 1 241903331 241903331 single base substitution C T intron_variant MELA-AU 1 241903331 241903331 single base substitution C T upstream_gene_variant MELA-AU 1 241903358 241903358 single base substitution G A intron_variant MELA-AU 1 241903358 241903358 single base substitution G A upstream_gene_variant MELA-AU 1 241903738 241903738 single base substitution C A intron_variant MELA-AU 1 241903738 241903738 single base substitution C A upstream_gene_variant MELA-AU 1 241905225 241905225 single base substitution G A intron_variant MELA-AU 1 241905624 241905624 single base substitution G A intron_variant MELA-AU 1 241905625 241905625 single base substitution G A intron_variant MELA-AU 1 241906337 241906337 single base substitution C T intron_variant MELA-AU 1 241906369 241906369 single base substitution C T intron_variant MELA-AU 1 241906429 241906429 single base substitution G A intron_variant MELA-AU 1 241906541 241906541 single base substitution G A intron_variant MELA-AU 1 241906691 241906691 single base substitution G A intron_variant MELA-AU 1 241907401 241907401 single base substitution C T intron_variant MELA-AU 1 241907651 241907651 single base substitution G A intron_variant MELA-AU 1 241908889 241908889 single base substitution C T intron_variant MELA-AU 1 241908889 241908889 single base substitution C T upstream_gene_variant MELA-AU 1 241908947 241908947 single base substitution C T intron_variant MELA-AU 1 241908947 241908947 single base substitution C T upstream_gene_variant MELA-AU 1 241908997 241908997 single base substitution C T intron_variant MELA-AU 1 241908997 241908997 single base substitution C T upstream_gene_variant MELA-AU 1 241909254 241909254 single base substitution G A intron_variant MELA-AU 1 241909254 241909254 single base substitution G A upstream_gene_variant MELA-AU 1 241909934 241909934 single base substitution G A intron_variant MELA-AU 1 241909934 241909934 single base substitution G A upstream_gene_variant MELA-AU 1 241910390 241910390 single base substitution G A intron_variant MELA-AU 1 241910390 241910390 single base substitution G A upstream_gene_variant MELA-AU 1 241910622 241910622 single base substitution G T intron_variant MELA-AU 1 241910622 241910622 single base substitution G T upstream_gene_variant MELA-AU 1 241910641 241910641 single base substitution G A intron_variant MELA-AU 1 241910641 241910641 single base substitution G A upstream_gene_variant MELA-AU 1 241910684 241910684 single base substitution A G intron_variant MELA-AU 1 241910684 241910684 single base substitution A G upstream_gene_variant MELA-AU 1 241910903 241910903 single base substitution C T intron_variant MELA-AU 1 241910903 241910903 single base substitution C T upstream_gene_variant MELA-AU 1 241911036 241911036 single base substitution C T intron_variant MELA-AU 1 241911036 241911036 single base substitution C T upstream_gene_variant MELA-AU 1 241911083 241911083 single base substitution G A intron_variant MELA-AU 1 241911083 241911083 single base substitution G A upstream_gene_variant MELA-AU 1 241911357 241911357 single base substitution T C intron_variant MELA-AU 1 241911357 241911357 single base substitution T C upstream_gene_variant MELA-AU 1 241911409 241911409 single base substitution C T intron_variant MELA-AU 1 241911409 241911409 single base substitution C T upstream_gene_variant MELA-AU 1 241911543 241911544 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 1 241911543 241911544 multiple base substitution (>=2bp and <=200bp) AG GA upstream_gene_variant MELA-AU 1 241911927 241911927 single base substitution G A intron_variant MELA-AU 1 241911927 241911927 single base substitution G A upstream_gene_variant MELA-AU 1 241911964 241911964 single base substitution G A intron_variant MELA-AU 1 241911964 241911964 single base substitution G A upstream_gene_variant MELA-AU 1 241912043 241912043 single base substitution C T intron_variant MELA-AU 1 241912043 241912043 single base substitution C T upstream_gene_variant MELA-AU 1 241912627 241912627 single base substitution C T intron_variant MELA-AU 1 241912627 241912627 single base substitution C T upstream_gene_variant MELA-AU 1 241912939 241912939 single base substitution G A exon_variant MELA-AU 1 241912939 241912939 single base substitution G A intron_variant MELA-AU 1 241912939 241912939 single base substitution G A missense_variant R30Q 89G>A MELA-AU 1 241912939 241912939 single base substitution G A missense_variant R323Q 968G>A MELA-AU 1 241912939 241912939 single base substitution G A missense_variant R552Q 1655G>A MELA-AU 1 241913210 241913210 single base substitution C T intron_variant MELA-AU 1 241913350 241913350 single base substitution C T intron_variant MELA-AU 1 241913969 241913969 single base substitution G A intron_variant MELA-AU 1 241914134 241914134 single base substitution G A intron_variant MELA-AU 1 241914676 241914676 single base substitution G A intron_variant MELA-AU 1 241915003 241915003 single base substitution T A intron_variant MELA-AU 1 241915090 241915090 single base substitution C T intron_variant MELA-AU 1 241915173 241915173 single base substitution G A intron_variant MELA-AU 1 241915301 241915301 single base substitution T C intron_variant MELA-AU 1 241915324 241915324 single base substitution A T intron_variant MELA-AU 1 241916282 241916282 single base substitution C T intron_variant MELA-AU 1 241916625 241916625 single base substitution A T intron_variant MELA-AU 1 241916735 241916735 single base substitution G A intron_variant MELA-AU 1 241916917 241916917 single base substitution G A intron_variant MELA-AU 1 241917167 241917167 single base substitution G A intron_variant MELA-AU 1 241917401 241917401 single base substitution G A intron_variant MELA-AU 1 241917454 241917454 single base substitution G A intron_variant MELA-AU 1 241917487 241917487 single base substitution A T intron_variant MELA-AU 1 241918034 241918034 single base substitution C T intron_variant MELA-AU 1 241918561 241918561 single base substitution C T intron_variant MELA-AU 1 241918693 241918693 single base substitution C T intron_variant MELA-AU 1 241919168 241919168 single base substitution G A intron_variant MELA-AU 1 241919291 241919291 single base substitution G A intron_variant MELA-AU 1 241919306 241919306 single base substitution C T intron_variant MELA-AU 1 241919362 241919362 single base substitution C T intron_variant MELA-AU 1 241919423 241919423 single base substitution G A intron_variant MELA-AU 1 241919472 241919472 single base substitution G A intron_variant MELA-AU 1 241919582 241919582 single base substitution C T intron_variant MELA-AU 1 241919689 241919689 single base substitution C T intron_variant MELA-AU 1 241919787 241919787 single base substitution C T intron_variant MELA-AU 1 241919806 241919806 single base substitution G A intron_variant MELA-AU 1 241920010 241920010 single base substitution A C intron_variant MELA-AU 1 241920612 241920612 single base substitution G A 3_prime_UTR_variant MELA-AU 1 241920612 241920612 single base substitution G A exon_variant MELA-AU 1 241920612 241920612 single base substitution G A missense_variant V361M 1081G>A MELA-AU 1 241920612 241920612 single base substitution G A missense_variant V590M 1768G>A MELA-AU 1 241920612 241920612 single base substitution G A missense_variant V68M 202G>A MELA-AU 1 241920644 241920644 single base substitution C T 3_prime_UTR_variant MELA-AU 1 241920644 241920644 single base substitution C T exon_variant MELA-AU 1 241920644 241920644 single base substitution C T synonymous_variant F371F 1113C>T MELA-AU 1 241920644 241920644 single base substitution C T synonymous_variant F600F 1800C>T MELA-AU 1 241920644 241920644 single base substitution C T synonymous_variant F78F 234C>T MELA-AU 1 241920917 241920917 single base substitution C T intron_variant MELA-AU 1 241920945 241920946 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 241921055 241921055 single base substitution G A intron_variant MELA-AU 1 241921094 241921094 single base substitution G A intron_variant MELA-AU 1 241921175 241921175 single base substitution C T intron_variant MELA-AU 1 241921196 241921196 single base substitution C T intron_variant MELA-AU 1 241921237 241921237 single base substitution C T intron_variant MELA-AU 1 241921428 241921428 single base substitution C T intron_variant MELA-AU 1 241921588 241921588 single base substitution C T intron_variant MELA-AU 1 241921773 241921773 single base substitution G A intron_variant MELA-AU 1 241921810 241921810 single base substitution C T intron_variant MELA-AU 1 241921833 241921833 single base substitution G A intron_variant MELA-AU 1 241922222 241922223 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 241922325 241922325 single base substitution G A intron_variant MELA-AU 1 241922596 241922596 single base substitution T C intron_variant MELA-AU 1 241922774 241922774 single base substitution C T intron_variant MELA-AU 1 241922934 241922934 single base substitution C T intron_variant MELA-AU 1 241923074 241923074 single base substitution G A intron_variant MELA-AU 1 241923491 241923491 single base substitution G C intron_variant MELA-AU 1 241923682 241923682 single base substitution C T intron_variant MELA-AU 1 241923835 241923835 single base substitution C T intron_variant MELA-AU 1 241924341 241924341 single base substitution C T intron_variant MELA-AU 1 241924933 241924933 single base substitution C T intron_variant MELA-AU 1 241924999 241924999 single base substitution C T intron_variant MELA-AU 1 241925051 241925051 single base substitution C T intron_variant MELA-AU 1 241925485 241925485 single base substitution C T intron_variant MELA-AU 1 241926172 241926172 single base substitution C T intron_variant MELA-AU 1 241927306 241927306 single base substitution G A intron_variant MELA-AU 1 241927332 241927332 single base substitution G A intron_variant MELA-AU 1 241927346 241927346 single base substitution G A intron_variant MELA-AU 1 241927354 241927354 single base substitution G A intron_variant MELA-AU 1 241927949 241927949 single base substitution C T intron_variant MELA-AU 1 241928123 241928123 single base substitution G A intron_variant MELA-AU 1 241928126 241928126 single base substitution G A intron_variant MELA-AU 1 241928145 241928145 single base substitution G A intron_variant MELA-AU 1 241928146 241928146 single base substitution G A intron_variant MELA-AU 1 241928956 241928956 single base substitution G A intron_variant MELA-AU 1 241928956 241928956 single base substitution G A upstream_gene_variant MELA-AU 1 241929055 241929055 single base substitution A G intron_variant MELA-AU 1 241929055 241929055 single base substitution A G upstream_gene_variant MELA-AU 1 241929089 241929089 single base substitution G A intron_variant MELA-AU 1 241929089 241929089 single base substitution G A upstream_gene_variant MELA-AU 1 241929506 241929506 single base substitution C T intron_variant MELA-AU 1 241929506 241929506 single base substitution C T upstream_gene_variant MELA-AU 1 241929507 241929507 single base substitution C T intron_variant MELA-AU 1 241929507 241929507 single base substitution C T upstream_gene_variant MELA-AU 1 241929800 241929800 single base substitution C T intron_variant MELA-AU 1 241929800 241929800 single base substitution C T upstream_gene_variant MELA-AU 1 241929831 241929831 single base substitution T C intron_variant MELA-AU 1 241929831 241929831 single base substitution T C upstream_gene_variant MELA-AU 1 241929917 241929917 single base substitution T C intron_variant MELA-AU 1 241929917 241929917 single base substitution T C upstream_gene_variant MELA-AU 1 241930009 241930009 single base substitution A G intron_variant MELA-AU 1 241930009 241930009 single base substitution A G upstream_gene_variant MELA-AU 1 241930350 241930350 single base substitution C T intron_variant MELA-AU 1 241930350 241930350 single base substitution C T upstream_gene_variant MELA-AU 1 241930593 241930593 single base substitution G A intron_variant MELA-AU 1 241930593 241930593 single base substitution G A upstream_gene_variant MELA-AU 1 241930735 241930735 single base substitution A C intron_variant MELA-AU 1 241930735 241930735 single base substitution A C upstream_gene_variant MELA-AU 1 241930960 241930960 single base substitution C T intron_variant MELA-AU 1 241930960 241930960 single base substitution C T upstream_gene_variant MELA-AU 1 241931697 241931697 single base substitution C T intron_variant MELA-AU 1 241931697 241931697 single base substitution C T upstream_gene_variant MELA-AU 1 241931945 241931945 single base substitution C T intron_variant MELA-AU 1 241931945 241931945 single base substitution C T upstream_gene_variant MELA-AU 1 241931977 241931977 single base substitution G A intron_variant MELA-AU 1 241931977 241931977 single base substitution G A upstream_gene_variant MELA-AU 1 241932241 241932241 single base substitution T C intron_variant MELA-AU 1 241932241 241932241 single base substitution T C upstream_gene_variant MELA-AU 1 241932289 241932289 deletion of <=200bp C - intron_variant MELA-AU 1 241932289 241932289 deletion of <=200bp C - upstream_gene_variant MELA-AU 1 241932625 241932625 single base substitution C A intron_variant MELA-AU 1 241932625 241932625 single base substitution C A upstream_gene_variant MELA-AU 1 241932633 241932633 single base substitution G A intron_variant MELA-AU 1 241932633 241932633 single base substitution G A upstream_gene_variant MELA-AU 1 241932768 241932768 single base substitution A T 3_prime_UTR_variant MELA-AU 1 241932768 241932768 single base substitution A T exon_variant MELA-AU 1 241932768 241932768 single base substitution A T intron_variant MELA-AU 1 241932768 241932768 single base substitution A T missense_variant N183I 548A>T MELA-AU 1 241932768 241932768 single base substitution A T missense_variant N705I 2114A>T MELA-AU 1 241932768 241932768 single base substitution A T upstream_gene_variant MELA-AU 1 241933021 241933021 single base substitution G A intron_variant MELA-AU 1 241933021 241933021 single base substitution G A upstream_gene_variant MELA-AU 1 241933242 241933242 single base substitution C T intron_variant MELA-AU 1 241933242 241933242 single base substitution C T upstream_gene_variant MELA-AU 1 241933261 241933261 single base substitution G A intron_variant MELA-AU 1 241933261 241933261 single base substitution G A upstream_gene_variant MELA-AU 1 241933524 241933524 single base substitution G A intron_variant MELA-AU 1 241933524 241933524 single base substitution G A upstream_gene_variant MELA-AU 1 241933643 241933643 single base substitution G A intron_variant MELA-AU 1 241933643 241933643 single base substitution G A upstream_gene_variant MELA-AU 1 241933874 241933874 single base substitution G A exon_variant MELA-AU 1 241933874 241933874 single base substitution G A intron_variant MELA-AU 1 241934468 241934468 single base substitution G A intron_variant MELA-AU 1 241934800 241934800 single base substitution G A intron_variant MELA-AU 1 241934824 241934825 multiple base substitution (>=2bp and <=200bp) TC CA intron_variant MELA-AU 1 241934853 241934853 single base substitution A G intron_variant MELA-AU 1 241935401 241935401 single base substitution G A intron_variant MELA-AU 1 241935795 241935795 single base substitution C T intron_variant MELA-AU 1 241935819 241935819 single base substitution T C intron_variant MELA-AU 1 241935874 241935874 single base substitution C T intron_variant MELA-AU 1 241935885 241935885 single base substitution C T intron_variant MELA-AU 1 241935888 241935888 single base substitution C T intron_variant MELA-AU 1 241936104 241936104 single base substitution A C 3_prime_UTR_variant MELA-AU 1 241936104 241936104 single base substitution A C exon_variant MELA-AU 1 241936104 241936104 single base substitution A C intron_variant MELA-AU 1 241936104 241936104 single base substitution A C synonymous_variant T235T 705A>C MELA-AU 1 241936104 241936104 single base substitution A C synonymous_variant T757T 2271A>C MELA-AU 1 241936263 241936263 single base substitution G A intron_variant MELA-AU 1 241936823 241936823 single base substitution G A intron_variant MELA-AU 1 241936874 241936874 single base substitution G A intron_variant MELA-AU 1 241937933 241937933 single base substitution T G intron_variant MELA-AU 1 241938595 241938595 single base substitution G A intron_variant MELA-AU 1 241938708 241938708 single base substitution C T intron_variant MELA-AU 1 241939321 241939321 single base substitution T C intron_variant MELA-AU 1 241939330 241939330 single base substitution C T intron_variant MELA-AU 1 241940050 241940050 single base substitution C T intron_variant MELA-AU 1 241940940 241940940 single base substitution G A intron_variant MELA-AU 1 241941435 241941435 single base substitution G A intron_variant MELA-AU 1 241942220 241942220 single base substitution A C intron_variant MELA-AU 1 241942272 241942272 single base substitution C T intron_variant MELA-AU 1 241942552 241942552 single base substitution C T intron_variant MELA-AU 1 241942718 241942718 single base substitution G A intron_variant MELA-AU 1 241942739 241942739 single base substitution C T intron_variant MELA-AU 1 241943041 241943041 single base substitution A G intron_variant MELA-AU 1 241943164 241943164 single base substitution G A intron_variant MELA-AU 1 241943535 241943535 single base substitution G A intron_variant MELA-AU 1 241943732 241943732 single base substitution C T intron_variant MELA-AU 1 241943783 241943783 single base substitution C T intron_variant MELA-AU 1 241943907 241943907 single base substitution C T intron_variant MELA-AU 1 241944253 241944253 single base substitution G A intron_variant MELA-AU 1 241944260 241944260 single base substitution G A intron_variant MELA-AU 1 241944635 241944635 single base substitution C T intron_variant MELA-AU 1 241945588 241945588 single base substitution C T intron_variant MELA-AU 1 241946270 241946270 single base substitution C T intron_variant MELA-AU 1 241946984 241946984 single base substitution G A intron_variant MELA-AU 1 241947576 241947576 single base substitution G A intron_variant MELA-AU 1 241948275 241948275 single base substitution A G intron_variant MELA-AU 1 241948564 241948564 single base substitution A G intron_variant MELA-AU 1 241948975 241948975 single base substitution C T intron_variant MELA-AU 1 241948993 241948993 single base substitution C T intron_variant MELA-AU 1 241949447 241949447 single base substitution G A intron_variant MELA-AU 1 241949472 241949472 single base substitution C T intron_variant MELA-AU 1 241949547 241949547 single base substitution C A intron_variant MELA-AU 1 241950272 241950272 single base substitution T G intron_variant MELA-AU 1 241950461 241950461 single base substitution C T intron_variant MELA-AU 1 241950579 241950579 single base substitution T C intron_variant MELA-AU 1 241951176 241951176 single base substitution T A 3_prime_UTR_variant MELA-AU 1 241951176 241951176 single base substitution T A exon_variant MELA-AU 1 241951176 241951176 single base substitution T A missense_variant Y379N 1135T>A MELA-AU 1 241951176 241951176 single base substitution T A missense_variant Y505N 1513T>A MELA-AU 1 241951176 241951176 single base substitution T A missense_variant Y734N 2200T>A MELA-AU 1 241951176 241951176 single base substitution T A missense_variant Y901N 2701T>A MELA-AU 1 241951974 241951974 single base substitution G A downstream_gene_variant MELA-AU 1 241951974 241951974 single base substitution G A intron_variant MELA-AU 1 241952621 241952621 single base substitution C T downstream_gene_variant MELA-AU 1 241952621 241952621 single base substitution C T intron_variant MELA-AU 1 241952833 241952833 single base substitution G A downstream_gene_variant MELA-AU 1 241952833 241952833 single base substitution G A intron_variant MELA-AU 1 241953326 241953326 single base substitution C T downstream_gene_variant MELA-AU 1 241953326 241953326 single base substitution C T intron_variant MELA-AU 1 241953579 241953579 single base substitution G A downstream_gene_variant MELA-AU 1 241953579 241953579 single base substitution G A intron_variant MELA-AU 1 241954542 241954542 single base substitution C T downstream_gene_variant MELA-AU 1 241954542 241954542 single base substitution C T intron_variant MELA-AU 1 241954804 241954804 single base substitution A G downstream_gene_variant MELA-AU 1 241954804 241954804 single base substitution A G intron_variant MELA-AU 1 241954977 241954977 single base substitution G A downstream_gene_variant MELA-AU 1 241954977 241954977 single base substitution G A intron_variant MELA-AU 1 241955428 241955428 single base substitution C T downstream_gene_variant MELA-AU 1 241955428 241955428 single base substitution C T intron_variant MELA-AU 1 241955605 241955605 single base substitution G A downstream_gene_variant MELA-AU 1 241955605 241955605 single base substitution G A intron_variant MELA-AU 1 241955655 241955655 single base substitution G A downstream_gene_variant MELA-AU 1 241955655 241955655 single base substitution G A intron_variant MELA-AU 1 241956293 241956293 single base substitution G A intron_variant MELA-AU 1 241956437 241956437 single base substitution C T intron_variant MELA-AU 1 241956610 241956610 single base substitution G A intron_variant MELA-AU 1 241957032 241957032 single base substitution G A intron_variant MELA-AU 1 241957038 241957038 single base substitution C T intron_variant MELA-AU 1 241957243 241957244 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 241957305 241957305 single base substitution G A intron_variant MELA-AU 1 241957843 241957843 single base substitution C T intron_variant MELA-AU 1 241958109 241958109 single base substitution G A intron_variant MELA-AU 1 241958302 241958302 single base substitution C T intron_variant MELA-AU 1 241958651 241958651 single base substitution C T intron_variant MELA-AU 1 241958818 241958818 single base substitution C T intron_variant MELA-AU 1 241959637 241959637 single base substitution G A 3_prime_UTR_variant MELA-AU 1 241959637 241959637 single base substitution G A downstream_gene_variant MELA-AU 1 241959637 241959637 single base substitution G A missense_variant G1043R 3127G>A MELA-AU 1 241959637 241959637 single base substitution G A missense_variant G521R 1561G>A MELA-AU 1 241959637 241959637 single base substitution G A missense_variant G647R 1939G>A MELA-AU 1 241959637 241959637 single base substitution G A missense_variant G876R 2626G>A MELA-AU 1 241959858 241959858 single base substitution G A downstream_gene_variant MELA-AU 1 241959858 241959858 single base substitution G A intron_variant MELA-AU 1 241960068 241960068 single base substitution T A downstream_gene_variant MELA-AU 1 241960068 241960068 single base substitution T A intron_variant MELA-AU 1 241960513 241960513 single base substitution G A downstream_gene_variant MELA-AU 1 241960513 241960513 single base substitution G A intron_variant MELA-AU 1 241960686 241960686 single base substitution A G downstream_gene_variant MELA-AU 1 241960686 241960686 single base substitution A G intron_variant MELA-AU 1 241960883 241960883 single base substitution T C downstream_gene_variant MELA-AU 1 241960883 241960883 single base substitution T C intron_variant MELA-AU 1 241961091 241961091 single base substitution G A downstream_gene_variant MELA-AU 1 241961091 241961091 single base substitution G A intron_variant MELA-AU 1 241961097 241961097 single base substitution G A downstream_gene_variant MELA-AU 1 241961097 241961097 single base substitution G A intron_variant MELA-AU 1 241961307 241961307 single base substitution G A downstream_gene_variant MELA-AU 1 241961307 241961307 single base substitution G A intron_variant MELA-AU 1 241961318 241961318 single base substitution G A downstream_gene_variant MELA-AU 1 241961318 241961318 single base substitution G A intron_variant MELA-AU 1 241961419 241961419 single base substitution G A downstream_gene_variant MELA-AU 1 241961419 241961419 single base substitution G A intron_variant MELA-AU 1 241961491 241961491 single base substitution C T downstream_gene_variant MELA-AU 1 241961491 241961491 single base substitution C T intron_variant MELA-AU 1 241961502 241961502 single base substitution C T downstream_gene_variant MELA-AU 1 241961502 241961502 single base substitution C T intron_variant MELA-AU 1 241961560 241961560 single base substitution C T downstream_gene_variant MELA-AU 1 241961560 241961560 single base substitution C T intron_variant MELA-AU 1 241961922 241961922 single base substitution G A downstream_gene_variant MELA-AU 1 241961922 241961922 single base substitution G A intron_variant MELA-AU 1 241961952 241961952 single base substitution A T downstream_gene_variant MELA-AU 1 241961952 241961952 single base substitution A T intron_variant MELA-AU 1 241962193 241962193 single base substitution A G downstream_gene_variant MELA-AU 1 241962193 241962193 single base substitution A G intron_variant MELA-AU 1 241962268 241962269 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 241962268 241962269 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 241962330 241962330 single base substitution G A downstream_gene_variant MELA-AU 1 241962330 241962330 single base substitution G A intron_variant MELA-AU 1 241962712 241962712 single base substitution T C downstream_gene_variant MELA-AU 1 241962712 241962712 single base substitution T C intron_variant MELA-AU 1 241962972 241962973 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 241962972 241962973 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 241963316 241963316 single base substitution C T downstream_gene_variant MELA-AU 1 241963316 241963316 single base substitution C T intron_variant MELA-AU 1 241963486 241963486 single base substitution G A downstream_gene_variant MELA-AU 1 241963486 241963486 single base substitution G A intron_variant MELA-AU 1 241963796 241963796 single base substitution T A downstream_gene_variant MELA-AU 1 241963796 241963796 single base substitution T A intron_variant MELA-AU 1 241963987 241963987 single base substitution C T downstream_gene_variant MELA-AU 1 241963987 241963987 single base substitution C T intron_variant MELA-AU 1 241964273 241964273 single base substitution T A downstream_gene_variant MELA-AU 1 241964273 241964273 single base substitution T A intron_variant MELA-AU 1 241964441 241964441 single base substitution G A 3_prime_UTR_variant MELA-AU 1 241964441 241964441 single base substitution G A downstream_gene_variant MELA-AU 1 241964441 241964441 single base substitution G A missense_variant R1057Q 3170G>A MELA-AU 1 241964441 241964441 single base substitution G A missense_variant R535Q 1604G>A MELA-AU 1 241964441 241964441 single base substitution G A missense_variant R661Q 1982G>A MELA-AU 1 241964441 241964441 single base substitution G A missense_variant R890Q 2669G>A MELA-AU 1 241964518 241964519 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 1 241964518 241964519 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 241964549 241964549 single base substitution A G 3_prime_UTR_variant MELA-AU 1 241964549 241964549 single base substitution A G downstream_gene_variant MELA-AU 1 241964568 241964568 single base substitution G A 3_prime_UTR_variant MELA-AU 1 241964568 241964568 single base substitution G A downstream_gene_variant MELA-AU 1 241964775 241964775 single base substitution G A 3_prime_UTR_variant MELA-AU 1 241964775 241964775 single base substitution G A downstream_gene_variant MELA-AU 1 241965091 241965091 single base substitution A T 3_prime_UTR_variant MELA-AU 1 241965091 241965091 single base substitution A T downstream_gene_variant MELA-AU 1 241965169 241965169 single base substitution G A 3_prime_UTR_variant MELA-AU 1 241965169 241965169 single base substitution G A downstream_gene_variant MELA-AU 1 241965190 241965190 single base substitution T A 3_prime_UTR_variant MELA-AU 1 241965190 241965190 single base substitution T A downstream_gene_variant MELA-AU 1 241965339 241965339 single base substitution G A 3_prime_UTR_variant MELA-AU 1 241965339 241965339 single base substitution G A downstream_gene_variant MELA-AU 1 241965957 241965957 single base substitution G A downstream_gene_variant MELA-AU 1 241966029 241966029 single base substitution G A downstream_gene_variant MELA-AU 1 241966057 241966057 single base substitution C T downstream_gene_variant MELA-AU 1 241966302 241966302 single base substitution C T downstream_gene_variant MELA-AU 1 241966473 241966473 single base substitution C T downstream_gene_variant MELA-AU 1 241966908 241966908 single base substitution G A downstream_gene_variant MELA-AU 1 241966974 241966974 single base substitution G A downstream_gene_variant MELA-AU 1 241967362 241967362 single base substitution G A downstream_gene_variant MELA-AU 1 241967533 241967533 single base substitution C T downstream_gene_variant MELA-AU 1 241967542 241967542 single base substitution A C downstream_gene_variant MELA-AU 1 241967553 241967553 single base substitution C T downstream_gene_variant MELA-AU 1 241967575 241967575 single base substitution C T downstream_gene_variant MELA-AU 1 241967667 241967667 single base substitution G A downstream_gene_variant MELA-AU 1 241968000 241968000 single base substitution G A downstream_gene_variant MELA-AU 1 241968693 241968693 single base substitution G A downstream_gene_variant MELA-AU 1 241968808 241968808 single base substitution T C downstream_gene_variant MELA-AU 1 241969022 241969022 single base substitution C T downstream_gene_variant MELA-AU 1 241969058 241969058 single base substitution G A downstream_gene_variant MELA-AU 1 241969228 241969228 single base substitution A G downstream_gene_variant MELA-AU 1 241969261 241969261 single base substitution G A downstream_gene_variant MELA-AU 1 241969410 241969410 single base substitution C T downstream_gene_variant MELA-AU 1 241969419 241969419 single base substitution G A downstream_gene_variant MELA-AU 1 241969857 241969857 single base substitution G A downstream_gene_variant MELA-AU 1 241970430 241970430 single base substitution C T downstream_gene_variant ORCA-IN 1 241815088 241815088 single base substitution G A upstream_gene_variant ORCA-IN 1 241815573 241815573 single base substitution G A upstream_gene_variant ORCA-IN 1 241848195 241848195 single base substitution G A downstream_gene_variant ORCA-IN 1 241848195 241848195 single base substitution G A intron_variant ORCA-IN 1 241871997 241871997 insertion of <=200bp - G intron_variant ORCA-IN 1 241874337 241874337 single base substitution G C intron_variant ORCA-IN 1 241890967 241890967 single base substitution T C intron_variant ORCA-IN 1 241895624 241895624 single base substitution T C intron_variant ORCA-IN 1 241933130 241933130 single base substitution G A intron_variant ORCA-IN 1 241933130 241933130 single base substitution G A upstream_gene_variant ORCA-IN 1 241937953 241937953 deletion of <=200bp T - intron_variant ORCA-IN 1 241945473 241945473 single base substitution A G intron_variant ORCA-IN 1 241951236 241951236 single base substitution T A 3_prime_UTR_variant ORCA-IN 1 241951236 241951236 single base substitution T A downstream_gene_variant ORCA-IN 1 241951236 241951236 single base substitution T A exon_variant ORCA-IN 1 241951236 241951236 single base substitution T A missense_variant L399M 1195T>A ORCA-IN 1 241951236 241951236 single base substitution T A missense_variant L525M 1573T>A ORCA-IN 1 241951236 241951236 single base substitution T A missense_variant L754M 2260T>A ORCA-IN 1 241951236 241951236 single base substitution T A missense_variant L921M 2761T>A ORCA-IN 1 241951569 241951569 single base substitution C G downstream_gene_variant ORCA-IN 1 241951569 241951569 single base substitution C G intron_variant ORCA-IN 1 241953926 241953926 single base substitution C G 3_prime_UTR_variant ORCA-IN 1 241953926 241953926 single base substitution C G downstream_gene_variant ORCA-IN 1 241953926 241953926 single base substitution C G intron_variant ORCA-IN 1 241953926 241953926 single base substitution C G missense_variant F443L 1329C>G ORCA-IN 1 241953926 241953926 single base substitution C G missense_variant F569L 1707C>G ORCA-IN 1 241953926 241953926 single base substitution C G missense_variant F798L 2394C>G ORCA-IN 1 241953926 241953926 single base substitution C G missense_variant F965L 2895C>G OV-AU 1 241816065 241816065 single base substitution C T intron_variant OV-AU 1 241818088 241818088 single base substitution G A intron_variant OV-AU 1 241819206 241819206 single base substitution G T intron_variant OV-AU 1 241819206 241819206 single base substitution G T upstream_gene_variant OV-AU 1 241822945 241822945 single base substitution C T intron_variant OV-AU 1 241822945 241822945 single base substitution C T upstream_gene_variant OV-AU 1 241827876 241827876 single base substitution G A intron_variant OV-AU 1 241835172 241835172 single base substitution T G intron_variant OV-AU 1 241835181 241835181 single base substitution A T intron_variant OV-AU 1 241835463 241835463 single base substitution A C intron_variant OV-AU 1 241835678 241835678 single base substitution G A intron_variant OV-AU 1 241839463 241839463 single base substitution G C exon_variant OV-AU 1 241839463 241839463 single base substitution G C intron_variant OV-AU 1 241842806 241842806 single base substitution G T downstream_gene_variant OV-AU 1 241842806 241842806 single base substitution G T exon_variant OV-AU 1 241842806 241842806 single base substitution G T missense_variant G168V 503G>T OV-AU 1 241842806 241842806 single base substitution G T upstream_gene_variant OV-AU 1 241844080 241844080 single base substitution C T downstream_gene_variant OV-AU 1 241844080 241844080 single base substitution C T intron_variant OV-AU 1 241844080 241844080 single base substitution C T upstream_gene_variant OV-AU 1 241846231 241846231 single base substitution A G intron_variant OV-AU 1 241846231 241846231 single base substitution A G upstream_gene_variant OV-AU 1 241854071 241854071 single base substitution G A intron_variant OV-AU 1 241857924 241857924 single base substitution C T intron_variant OV-AU 1 241858721 241858721 single base substitution A G intron_variant OV-AU 1 241859333 241859333 single base substitution T A intron_variant OV-AU 1 241862087 241862087 single base substitution A G intron_variant OV-AU 1 241867118 241867118 single base substitution G A intron_variant OV-AU 1 241870146 241870146 single base substitution T C intron_variant OV-AU 1 241870809 241870809 single base substitution G T intron_variant OV-AU 1 241871312 241871312 single base substitution G T intron_variant OV-AU 1 241873236 241873236 single base substitution G A intron_variant OV-AU 1 241874217 241874217 single base substitution G T intron_variant OV-AU 1 241874823 241874823 single base substitution G C intron_variant OV-AU 1 241880278 241880278 single base substitution G T intron_variant OV-AU 1 241882114 241882114 single base substitution C T intron_variant OV-AU 1 241885007 241885007 single base substitution G C intron_variant OV-AU 1 241886094 241886094 single base substitution C A intron_variant OV-AU 1 241888624 241888624 single base substitution A C intron_variant OV-AU 1 241888756 241888756 single base substitution A C intron_variant OV-AU 1 241894818 241894818 single base substitution A G intron_variant OV-AU 1 241897331 241897331 single base substitution T C intron_variant OV-AU 1 241903624 241903624 single base substitution T C intron_variant OV-AU 1 241903624 241903624 single base substitution T C upstream_gene_variant OV-AU 1 241905845 241905845 single base substitution T C intron_variant OV-AU 1 241906106 241906106 single base substitution T A intron_variant OV-AU 1 241916696 241916696 single base substitution A T intron_variant OV-AU 1 241918690 241918690 single base substitution A C intron_variant OV-AU 1 241918711 241918711 single base substitution G T intron_variant OV-AU 1 241919145 241919145 single base substitution G C intron_variant OV-AU 1 241921417 241921417 single base substitution G A intron_variant OV-AU 1 241923620 241923620 single base substitution G A intron_variant OV-AU 1 241927461 241927461 single base substitution C A intron_variant OV-AU 1 241927462 241927462 single base substitution A C intron_variant OV-AU 1 241934518 241934518 single base substitution A T intron_variant OV-AU 1 241935174 241935174 single base substitution A C intron_variant OV-AU 1 241938564 241938564 single base substitution G A intron_variant OV-AU 1 241945911 241945911 single base substitution C G intron_variant OV-AU 1 241949608 241949608 single base substitution C A intron_variant OV-AU 1 241951354 241951354 single base substitution T C downstream_gene_variant OV-AU 1 241951354 241951354 single base substitution T C intron_variant OV-AU 1 241962805 241962805 single base substitution G A downstream_gene_variant OV-AU 1 241962805 241962805 single base substitution G A intron_variant OV-AU 1 241964946 241964946 single base substitution A T 3_prime_UTR_variant OV-AU 1 241964946 241964946 single base substitution A T downstream_gene_variant OV-AU 1 241965983 241965983 single base substitution A T downstream_gene_variant OV-AU 1 241967653 241967653 single base substitution A G downstream_gene_variant OV-AU 1 241969066 241969066 single base substitution G A downstream_gene_variant PACA-AU 1 241814174 241814174 single base substitution T A upstream_gene_variant PACA-AU 1 241815561 241815561 single base substitution G A upstream_gene_variant PACA-AU 1 241817931 241817931 single base substitution G T intron_variant PACA-AU 1 241819003 241819003 insertion of <=200bp - TTTTCT intron_variant PACA-AU 1 241819003 241819003 insertion of <=200bp - TTTTCT upstream_gene_variant PACA-AU 1 241819894 241819894 single base substitution G A intron_variant PACA-AU 1 241819894 241819894 single base substitution G A upstream_gene_variant PACA-AU 1 241824251 241824251 single base substitution G A intron_variant PACA-AU 1 241825209 241825209 single base substitution G T intron_variant PACA-AU 1 241826971 241826971 single base substitution C T intron_variant PACA-AU 1 241828307 241828307 single base substitution T A intron_variant PACA-AU 1 241828875 241828875 single base substitution C G intron_variant PACA-AU 1 241830680 241830680 single base substitution C T intron_variant PACA-AU 1 241842027 241842027 single base substitution C T downstream_gene_variant PACA-AU 1 241842027 241842027 single base substitution C T intron_variant PACA-AU 1 241842027 241842027 single base substitution C T upstream_gene_variant PACA-AU 1 241842051 241842051 single base substitution T C downstream_gene_variant PACA-AU 1 241842051 241842051 single base substitution T C intron_variant PACA-AU 1 241842051 241842051 single base substitution T C upstream_gene_variant PACA-AU 1 241842577 241842577 single base substitution G T downstream_gene_variant PACA-AU 1 241842577 241842577 single base substitution G T intron_variant PACA-AU 1 241842577 241842577 single base substitution G T upstream_gene_variant PACA-AU 1 241843729 241843729 single base substitution A G downstream_gene_variant PACA-AU 1 241843729 241843729 single base substitution A G intron_variant PACA-AU 1 241843729 241843729 single base substitution A G upstream_gene_variant PACA-AU 1 241843884 241843884 single base substitution C A downstream_gene_variant PACA-AU 1 241843884 241843884 single base substitution C A intron_variant PACA-AU 1 241843884 241843884 single base substitution C A upstream_gene_variant PACA-AU 1 241845856 241845856 single base substitution A G intron_variant PACA-AU 1 241845856 241845856 single base substitution A G upstream_gene_variant PACA-AU 1 241846251 241846271 deletion of <=200bp CAAATTTATAGAGACTGAATC - intron_variant PACA-AU 1 241846251 241846271 deletion of <=200bp CAAATTTATAGAGACTGAATC - upstream_gene_variant PACA-AU 1 241848138 241848138 single base substitution C T downstream_gene_variant PACA-AU 1 241848138 241848138 single base substitution C T intron_variant PACA-AU 1 241850920 241850920 single base substitution A C downstream_gene_variant PACA-AU 1 241850920 241850920 single base substitution A C intron_variant PACA-AU 1 241851882 241851882 insertion of <=200bp - A downstream_gene_variant PACA-AU 1 241851882 241851882 insertion of <=200bp - A intron_variant PACA-AU 1 241859665 241859665 single base substitution G C intron_variant PACA-AU 1 241859717 241859717 single base substitution T C intron_variant PACA-AU 1 241866859 241866859 single base substitution C G intron_variant PACA-AU 1 241866876 241866876 single base substitution A C intron_variant PACA-AU 1 241868975 241868975 single base substitution G A intron_variant PACA-AU 1 241871335 241871335 single base substitution C A intron_variant PACA-AU 1 241872307 241872307 single base substitution A C intron_variant PACA-AU 1 241875366 241875366 single base substitution A G intron_variant PACA-AU 1 241877021 241877021 single base substitution G A intron_variant PACA-AU 1 241877528 241877528 single base substitution A C intron_variant PACA-AU 1 241879794 241879794 single base substitution T A intron_variant PACA-AU 1 241880115 241880115 single base substitution G A intron_variant PACA-AU 1 241883066 241883066 single base substitution C A intron_variant PACA-AU 1 241884428 241884428 single base substitution A T intron_variant PACA-AU 1 241884890 241884890 deletion of <=200bp T - intron_variant PACA-AU 1 241885886 241885886 single base substitution C T intron_variant PACA-AU 1 241886616 241886616 single base substitution C T exon_variant PACA-AU 1 241886616 241886616 single base substitution C T missense_variant R119W 355C>T PACA-AU 1 241886616 241886616 single base substitution C T missense_variant R348W 1042C>T PACA-AU 1 241886791 241886791 single base substitution G A intron_variant PACA-AU 1 241887652 241887652 single base substitution C T intron_variant PACA-AU 1 241891526 241891526 single base substitution T G intron_variant PACA-AU 1 241895924 241895924 single base substitution C G intron_variant PACA-AU 1 241897387 241897387 single base substitution T C intron_variant PACA-AU 1 241898604 241898604 single base substitution G A intron_variant PACA-AU 1 241899532 241899532 single base substitution A G intron_variant PACA-AU 1 241900583 241900583 single base substitution C T intron_variant PACA-AU 1 241900583 241900583 single base substitution C T upstream_gene_variant PACA-AU 1 241902216 241902228 deletion of <=200bp CAGCTCCCACACA - intron_variant PACA-AU 1 241902216 241902228 deletion of <=200bp CAGCTCCCACACA - upstream_gene_variant PACA-AU 1 241904160 241904160 single base substitution A G intron_variant PACA-AU 1 241904160 241904160 single base substitution A G upstream_gene_variant PACA-AU 1 241905026 241905026 single base substitution C G intron_variant PACA-AU 1 241905731 241905731 single base substitution C T intron_variant PACA-AU 1 241907410 241907410 single base substitution A C intron_variant PACA-AU 1 241907693 241907693 single base substitution A G splice_acceptor_variant PACA-AU 1 241909392 241909392 single base substitution T C intron_variant PACA-AU 1 241909392 241909392 single base substitution T C upstream_gene_variant PACA-AU 1 241909871 241909871 single base substitution C G intron_variant PACA-AU 1 241909871 241909871 single base substitution C G upstream_gene_variant PACA-AU 1 241910406 241910406 single base substitution C A intron_variant PACA-AU 1 241910406 241910406 single base substitution C A upstream_gene_variant PACA-AU 1 241910596 241910596 single base substitution G A intron_variant PACA-AU 1 241910596 241910596 single base substitution G A upstream_gene_variant PACA-AU 1 241910729 241910729 single base substitution C T intron_variant PACA-AU 1 241910729 241910729 single base substitution C T upstream_gene_variant PACA-AU 1 241911200 241911200 single base substitution C G intron_variant PACA-AU 1 241911200 241911200 single base substitution C G upstream_gene_variant PACA-AU 1 241916738 241916738 single base substitution G A intron_variant PACA-AU 1 241917550 241917550 deletion of <=200bp T - intron_variant PACA-AU 1 241919719 241919719 single base substitution C A intron_variant PACA-AU 1 241920958 241920958 single base substitution T G intron_variant PACA-AU 1 241922998 241922998 single base substitution T A intron_variant PACA-AU 1 241928784 241928784 single base substitution G A intron_variant PACA-AU 1 241928784 241928784 single base substitution G A upstream_gene_variant PACA-AU 1 241929471 241929471 single base substitution C T intron_variant PACA-AU 1 241929471 241929471 single base substitution C T upstream_gene_variant PACA-AU 1 241930404 241930404 single base substitution T G intron_variant PACA-AU 1 241930404 241930404 single base substitution T G upstream_gene_variant PACA-AU 1 241932711 241932711 single base substitution G A 3_prime_UTR_variant PACA-AU 1 241932711 241932711 single base substitution G A exon_variant PACA-AU 1 241932711 241932711 single base substitution G A intron_variant PACA-AU 1 241932711 241932711 single base substitution G A missense_variant R164Q 491G>A PACA-AU 1 241932711 241932711 single base substitution G A missense_variant R686Q 2057G>A PACA-AU 1 241932711 241932711 single base substitution G A upstream_gene_variant PACA-AU 1 241932789 241932789 single base substitution G A 3_prime_UTR_variant PACA-AU 1 241932789 241932789 single base substitution G A exon_variant PACA-AU 1 241932789 241932789 single base substitution G A intron_variant PACA-AU 1 241932789 241932789 single base substitution G A missense_variant R190H 569G>A PACA-AU 1 241932789 241932789 single base substitution G A missense_variant R712H 2135G>A PACA-AU 1 241932789 241932789 single base substitution G A upstream_gene_variant PACA-AU 1 241933300 241933300 single base substitution A G intron_variant PACA-AU 1 241933300 241933300 single base substitution A G upstream_gene_variant PACA-AU 1 241935910 241935910 single base substitution G A intron_variant PACA-AU 1 241939338 241939338 single base substitution C T intron_variant PACA-AU 1 241943815 241943815 single base substitution T A intron_variant PACA-AU 1 241944448 241944448 single base substitution C T intron_variant PACA-AU 1 241945666 241945666 single base substitution G A intron_variant PACA-AU 1 241946712 241946712 single base substitution T C intron_variant PACA-AU 1 241949053 241949053 single base substitution G A intron_variant PACA-AU 1 241953284 241953284 single base substitution G C downstream_gene_variant PACA-AU 1 241953284 241953284 single base substitution G C intron_variant PACA-AU 1 241960320 241960320 single base substitution A T downstream_gene_variant PACA-AU 1 241960320 241960320 single base substitution A T intron_variant PACA-AU 1 241961522 241961522 single base substitution G A downstream_gene_variant PACA-AU 1 241961522 241961522 single base substitution G A intron_variant PACA-AU 1 241961577 241961577 single base substitution T A downstream_gene_variant PACA-AU 1 241961577 241961577 single base substitution T A intron_variant PACA-AU 1 241962873 241962873 single base substitution A T downstream_gene_variant PACA-AU 1 241962873 241962873 single base substitution A T intron_variant PACA-AU 1 241963306 241963306 single base substitution C T downstream_gene_variant PACA-AU 1 241963306 241963306 single base substitution C T intron_variant PACA-AU 1 241965082 241965082 single base substitution C T 3_prime_UTR_variant PACA-AU 1 241965082 241965082 single base substitution C T downstream_gene_variant PACA-AU 1 241966742 241966742 single base substitution C T downstream_gene_variant PACA-AU 1 241968708 241968708 single base substitution C G downstream_gene_variant PACA-AU 1 241970125 241970125 single base substitution A T downstream_gene_variant PACA-AU 1 241970435 241970435 single base substitution C T downstream_gene_variant PACA-CA 1 241813591 241813591 single base substitution G A upstream_gene_variant PACA-CA 1 241814095 241814095 single base substitution T C upstream_gene_variant PACA-CA 1 241818025 241818025 single base substitution C A intron_variant PACA-CA 1 241818703 241818703 single base substitution A C intron_variant PACA-CA 1 241818917 241818917 single base substitution A T intron_variant PACA-CA 1 241818917 241818917 single base substitution A T upstream_gene_variant PACA-CA 1 241820025 241820025 single base substitution C T intron_variant PACA-CA 1 241820025 241820025 single base substitution C T upstream_gene_variant PACA-CA 1 241823520 241823520 single base substitution G A intron_variant PACA-CA 1 241823520 241823520 single base substitution G A upstream_gene_variant PACA-CA 1 241824154 241824154 single base substitution C T intron_variant PACA-CA 1 241824465 241824465 single base substitution T A intron_variant PACA-CA 1 241824574 241824574 single base substitution C A intron_variant PACA-CA 1 241824802 241824802 single base substitution A G intron_variant PACA-CA 1 241825072 241825072 insertion of <=200bp - A intron_variant PACA-CA 1 241828183 241828183 single base substitution C A intron_variant PACA-CA 1 241829949 241829949 single base substitution C T intron_variant PACA-CA 1 241831139 241831139 single base substitution C G intron_variant PACA-CA 1 241831403 241831403 single base substitution G A intron_variant PACA-CA 1 241831542 241831542 single base substitution C T intron_variant PACA-CA 1 241831602 241831602 single base substitution G A intron_variant PACA-CA 1 241833831 241833831 single base substitution G T intron_variant PACA-CA 1 241836495 241836495 single base substitution G A intron_variant PACA-CA 1 241836568 241836568 single base substitution C T intron_variant PACA-CA 1 241836592 241836592 single base substitution C A intron_variant PACA-CA 1 241837451 241837451 single base substitution G T intron_variant PACA-CA 1 241838621 241838621 single base substitution C A intron_variant PACA-CA 1 241838726 241838726 single base substitution A G intron_variant PACA-CA 1 241840522 241840522 single base substitution G A downstream_gene_variant PACA-CA 1 241840522 241840522 single base substitution G A intron_variant PACA-CA 1 241841653 241841653 single base substitution T C downstream_gene_variant PACA-CA 1 241841653 241841653 single base substitution T C intron_variant PACA-CA 1 241842557 241842557 single base substitution G A downstream_gene_variant PACA-CA 1 241842557 241842557 single base substitution G A intron_variant PACA-CA 1 241842557 241842557 single base substitution G A upstream_gene_variant PACA-CA 1 241842902 241842902 single base substitution T G downstream_gene_variant PACA-CA 1 241842902 241842902 single base substitution T G splice_region_variant PACA-CA 1 241842902 241842902 single base substitution T G upstream_gene_variant PACA-CA 1 241843226 241843226 single base substitution G A downstream_gene_variant PACA-CA 1 241843226 241843226 single base substitution G A intron_variant PACA-CA 1 241843226 241843226 single base substitution G A upstream_gene_variant PACA-CA 1 241844305 241844305 single base substitution C T downstream_gene_variant PACA-CA 1 241844305 241844305 single base substitution C T intron_variant PACA-CA 1 241844305 241844305 single base substitution C T upstream_gene_variant PACA-CA 1 241844308 241844308 single base substitution C A downstream_gene_variant PACA-CA 1 241844308 241844308 single base substitution C A intron_variant PACA-CA 1 241844308 241844308 single base substitution C A upstream_gene_variant PACA-CA 1 241844493 241844493 single base substitution C T downstream_gene_variant PACA-CA 1 241844493 241844493 single base substitution C T intron_variant PACA-CA 1 241844493 241844493 single base substitution C T upstream_gene_variant PACA-CA 1 241845573 241845573 single base substitution A G intron_variant PACA-CA 1 241845573 241845573 single base substitution A G upstream_gene_variant PACA-CA 1 241846499 241846499 deletion of <=200bp A - intron_variant PACA-CA 1 241846499 241846499 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 241851003 241851003 single base substitution G A downstream_gene_variant PACA-CA 1 241851003 241851003 single base substitution G A intron_variant PACA-CA 1 241853121 241853121 single base substitution G A intron_variant PACA-CA 1 241855336 241855336 single base substitution A T intron_variant PACA-CA 1 241857238 241857238 single base substitution G T intron_variant PACA-CA 1 241857604 241857604 deletion of <=200bp T - intron_variant PACA-CA 1 241858147 241858147 single base substitution C A intron_variant PACA-CA 1 241858336 241858336 single base substitution T C intron_variant PACA-CA 1 241859681 241859681 insertion of <=200bp - A intron_variant PACA-CA 1 241861715 241861715 single base substitution A C intron_variant PACA-CA 1 241861977 241861977 single base substitution C T intron_variant PACA-CA 1 241862954 241862954 single base substitution A C intron_variant PACA-CA 1 241862992 241862992 single base substitution A T intron_variant PACA-CA 1 241863432 241863432 single base substitution G C intron_variant PACA-CA 1 241864692 241864692 single base substitution G A intron_variant PACA-CA 1 241865458 241865458 single base substitution C T intron_variant PACA-CA 1 241865728 241865728 single base substitution C T intron_variant PACA-CA 1 241868861 241868861 deletion of <=200bp A - intron_variant PACA-CA 1 241870078 241870078 single base substitution A T intron_variant PACA-CA 1 241870737 241870737 single base substitution T A intron_variant PACA-CA 1 241872600 241872600 single base substitution T A intron_variant PACA-CA 1 241873187 241873187 single base substitution C T intron_variant PACA-CA 1 241873367 241873367 single base substitution G A intron_variant PACA-CA 1 241874025 241874025 single base substitution G T intron_variant PACA-CA 1 241875663 241875665 deletion of <=200bp TAC - intron_variant PACA-CA 1 241876408 241876408 single base substitution A G intron_variant PACA-CA 1 241878553 241878553 single base substitution G T intron_variant PACA-CA 1 241879912 241879912 single base substitution C A intron_variant PACA-CA 1 241881381 241881381 single base substitution C T intron_variant PACA-CA 1 241881632 241881632 single base substitution G T intron_variant PACA-CA 1 241881759 241881759 single base substitution A T intron_variant PACA-CA 1 241882518 241882518 single base substitution G C intron_variant PACA-CA 1 241883097 241883097 insertion of <=200bp - T intron_variant PACA-CA 1 241883866 241883866 insertion of <=200bp - T intron_variant PACA-CA 1 241888249 241888249 single base substitution C G intron_variant PACA-CA 1 241888968 241888968 single base substitution G T intron_variant PACA-CA 1 241890126 241890126 deletion of <=200bp T - intron_variant PACA-CA 1 241892630 241892630 single base substitution C A intron_variant PACA-CA 1 241893805 241893805 single base substitution C G intron_variant PACA-CA 1 241894724 241894724 single base substitution C G intron_variant PACA-CA 1 241894932 241894932 single base substitution C T intron_variant PACA-CA 1 241897604 241897604 single base substitution G A intron_variant PACA-CA 1 241899157 241899157 single base substitution C G intron_variant PACA-CA 1 241899159 241899159 single base substitution G C intron_variant PACA-CA 1 241899874 241899874 single base substitution G T intron_variant PACA-CA 1 241899874 241899874 single base substitution G T upstream_gene_variant PACA-CA 1 241900661 241900661 single base substitution C G intron_variant PACA-CA 1 241900661 241900661 single base substitution C G upstream_gene_variant PACA-CA 1 241901402 241901402 single base substitution T C intron_variant PACA-CA 1 241901402 241901402 single base substitution T C upstream_gene_variant PACA-CA 1 241905113 241905113 single base substitution T C intron_variant PACA-CA 1 241911068 241911068 single base substitution G A intron_variant PACA-CA 1 241911068 241911068 single base substitution G A upstream_gene_variant PACA-CA 1 241912115 241912115 single base substitution G A intron_variant PACA-CA 1 241912115 241912115 single base substitution G A upstream_gene_variant PACA-CA 1 241912583 241912583 single base substitution C A intron_variant PACA-CA 1 241912583 241912583 single base substitution C A upstream_gene_variant PACA-CA 1 241913812 241913812 single base substitution C A intron_variant PACA-CA 1 241916168 241916168 single base substitution C A intron_variant PACA-CA 1 241921068 241921068 single base substitution A G intron_variant PACA-CA 1 241922216 241922216 insertion of <=200bp - A intron_variant PACA-CA 1 241928596 241928596 single base substitution C T intron_variant PACA-CA 1 241929589 241929589 single base substitution G C 3_prime_UTR_variant PACA-CA 1 241929589 241929589 single base substitution G C exon_variant PACA-CA 1 241929589 241929589 single base substitution G C missense_variant A141P 421G>C PACA-CA 1 241929589 241929589 single base substitution G C missense_variant A434P 1300G>C PACA-CA 1 241929589 241929589 single base substitution G C missense_variant A663P 1987G>C PACA-CA 1 241929589 241929589 single base substitution G C upstream_gene_variant PACA-CA 1 241931083 241931083 single base substitution C A intron_variant PACA-CA 1 241931083 241931083 single base substitution C A upstream_gene_variant PACA-CA 1 241932823 241932823 single base substitution C G intron_variant PACA-CA 1 241932823 241932823 single base substitution C G upstream_gene_variant PACA-CA 1 241934648 241934648 single base substitution T A intron_variant PACA-CA 1 241936047 241936047 single base substitution G C intron_variant PACA-CA 1 241936388 241936388 single base substitution C T intron_variant PACA-CA 1 241936514 241936514 single base substitution T G intron_variant PACA-CA 1 241936694 241936694 single base substitution C T intron_variant PACA-CA 1 241939904 241939904 single base substitution C T intron_variant PACA-CA 1 241941879 241941879 single base substitution C G intron_variant PACA-CA 1 241944330 241944330 single base substitution C T intron_variant PACA-CA 1 241944862 241944862 insertion of <=200bp - A intron_variant PACA-CA 1 241949673 241949673 single base substitution G T intron_variant PACA-CA 1 241950984 241950984 single base substitution A T intron_variant PACA-CA 1 241952480 241952480 single base substitution T C downstream_gene_variant PACA-CA 1 241952480 241952480 single base substitution T C intron_variant PACA-CA 1 241952989 241952989 single base substitution T G downstream_gene_variant PACA-CA 1 241952989 241952989 single base substitution T G intron_variant PACA-CA 1 241955604 241955604 single base substitution C T downstream_gene_variant PACA-CA 1 241955604 241955604 single base substitution C T intron_variant PACA-CA 1 241955698 241955698 single base substitution C T downstream_gene_variant PACA-CA 1 241955698 241955698 single base substitution C T intron_variant PACA-CA 1 241956350 241956350 single base substitution A G intron_variant PACA-CA 1 241957378 241957378 single base substitution G A intron_variant PACA-CA 1 241958047 241958047 single base substitution G T intron_variant PACA-CA 1 241958570 241958570 single base substitution G C 3_prime_UTR_variant PACA-CA 1 241958570 241958570 single base substitution G C missense_variant G1010A 3029G>C PACA-CA 1 241958570 241958570 single base substitution G C missense_variant G488A 1463G>C PACA-CA 1 241958570 241958570 single base substitution G C missense_variant G614A 1841G>C PACA-CA 1 241958570 241958570 single base substitution G C missense_variant G843A 2528G>C PACA-CA 1 241959925 241959925 single base substitution G T downstream_gene_variant PACA-CA 1 241959925 241959925 single base substitution G T intron_variant PACA-CA 1 241960505 241960505 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 241960505 241960505 deletion of <=200bp A - intron_variant PACA-CA 1 241963564 241963564 single base substitution G A downstream_gene_variant PACA-CA 1 241963564 241963564 single base substitution G A intron_variant PACA-CA 1 241964786 241964786 single base substitution C A 3_prime_UTR_variant PACA-CA 1 241964786 241964786 single base substitution C A downstream_gene_variant PACA-CA 1 241965083 241965083 single base substitution G A 3_prime_UTR_variant PACA-CA 1 241965083 241965083 single base substitution G A downstream_gene_variant PACA-CA 1 241965849 241965849 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 241966916 241966916 single base substitution A G downstream_gene_variant PACA-CA 1 241967191 241967191 single base substitution T G downstream_gene_variant PACA-CA 1 241967390 241967390 single base substitution G C downstream_gene_variant PACA-CA 1 241967970 241967970 single base substitution G A downstream_gene_variant PACA-CA 1 241968837 241968837 single base substitution G A downstream_gene_variant PACA-CA 1 241969156 241969156 single base substitution G A downstream_gene_variant PAEN-AU 1 241819010 241819010 insertion of <=200bp - TTTC intron_variant PAEN-AU 1 241819010 241819010 insertion of <=200bp - TTTC upstream_gene_variant PAEN-AU 1 241821555 241821555 single base substitution C T intron_variant PAEN-AU 1 241821555 241821555 single base substitution C T upstream_gene_variant PAEN-AU 1 241856714 241856714 single base substitution G A intron_variant PAEN-IT 1 241826508 241826508 single base substitution T A intron_variant PAEN-IT 1 241853578 241853578 single base substitution G C intron_variant PAEN-IT 1 241864577 241864577 single base substitution C T intron_variant PAEN-IT 1 241870201 241870201 single base substitution T C intron_variant PAEN-IT 1 241878221 241878221 single base substitution T C intron_variant PAEN-IT 1 241896606 241896606 single base substitution G A intron_variant PAEN-IT 1 241908216 241908216 single base substitution A G intron_variant PAEN-IT 1 241908216 241908216 single base substitution A G upstream_gene_variant PBCA-DE 1 241817566 241817566 deletion of <=200bp A - intron_variant PBCA-DE 1 241819007 241819007 single base substitution C T intron_variant PBCA-DE 1 241819007 241819007 single base substitution C T upstream_gene_variant PBCA-DE 1 241827243 241827243 insertion of <=200bp - T intron_variant PBCA-DE 1 241833160 241833160 single base substitution A T intron_variant PBCA-DE 1 241837127 241837127 insertion of <=200bp - T intron_variant PBCA-DE 1 241846403 241846403 single base substitution G T intron_variant PBCA-DE 1 241846403 241846403 single base substitution G T upstream_gene_variant PBCA-DE 1 241847167 241847168 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 1 241847167 241847168 deletion of <=200bp AC - intron_variant PBCA-DE 1 241857411 241857411 insertion of <=200bp - A intron_variant PBCA-DE 1 241861839 241861839 single base substitution C T intron_variant PBCA-DE 1 241862406 241862406 single base substitution G A intron_variant PBCA-DE 1 241864504 241864504 single base substitution C T intron_variant PBCA-DE 1 241871546 241871548 deletion of <=200bp ATG - intron_variant PBCA-DE 1 241874997 241874997 single base substitution T A intron_variant PBCA-DE 1 241875492 241875492 single base substitution G A intron_variant PBCA-DE 1 241876724 241876724 single base substitution G A intron_variant PBCA-DE 1 241890013 241890023 deletion of <=200bp AATCAATTTTA - intron_variant PBCA-DE 1 241892950 241892950 single base substitution C A intron_variant PBCA-DE 1 241899158 241899159 deletion of <=200bp TG - intron_variant PBCA-DE 1 241899361 241899361 single base substitution C T intron_variant PBCA-DE 1 241903074 241903074 single base substitution T C intron_variant PBCA-DE 1 241903074 241903074 single base substitution T C upstream_gene_variant PBCA-DE 1 241905356 241905356 single base substitution C A intron_variant PBCA-DE 1 241906673 241906673 single base substitution G A intron_variant PBCA-DE 1 241914901 241914901 single base substitution A G intron_variant PBCA-DE 1 241914913 241914913 single base substitution A C intron_variant PBCA-DE 1 241931439 241931439 single base substitution G T intron_variant PBCA-DE 1 241931439 241931439 single base substitution G T upstream_gene_variant PBCA-DE 1 241945433 241945433 insertion of <=200bp - A intron_variant PBCA-DE 1 241946368 241946368 single base substitution T A intron_variant PBCA-DE 1 241947968 241947968 single base substitution G A intron_variant PBCA-DE 1 241953170 241953170 single base substitution A G downstream_gene_variant PBCA-DE 1 241953170 241953170 single base substitution A G intron_variant PBCA-DE 1 241955344 241955344 single base substitution A C downstream_gene_variant PBCA-DE 1 241955344 241955344 single base substitution A C intron_variant PBCA-DE 1 241957281 241957281 single base substitution C T intron_variant PBCA-DE 1 241957912 241957912 single base substitution G A intron_variant PBCA-DE 1 241968263 241968263 single base substitution G T downstream_gene_variant PRAD-CA 1 241817295 241817295 single base substitution G T intron_variant PRAD-CA 1 241821477 241821477 single base substitution T A intron_variant PRAD-CA 1 241821477 241821477 single base substitution T A upstream_gene_variant PRAD-CA 1 241821617 241821617 single base substitution A G intron_variant PRAD-CA 1 241821617 241821617 single base substitution A G upstream_gene_variant PRAD-CA 1 241838560 241838560 single base substitution C T intron_variant PRAD-CA 1 241855801 241855801 single base substitution A T intron_variant PRAD-CA 1 241862488 241862488 single base substitution C T intron_variant PRAD-CA 1 241867490 241867490 single base substitution A T intron_variant PRAD-CA 1 241868117 241868117 single base substitution C A intron_variant PRAD-CA 1 241868618 241868618 single base substitution C T intron_variant PRAD-CA 1 241876643 241876643 single base substitution G A intron_variant PRAD-CA 1 241882627 241882627 single base substitution A T intron_variant PRAD-CA 1 241883170 241883170 single base substitution C T intron_variant PRAD-CA 1 241893035 241893035 single base substitution A G intron_variant PRAD-CA 1 241893208 241893208 single base substitution T A intron_variant PRAD-CA 1 241899157 241899157 single base substitution C G intron_variant PRAD-CA 1 241899159 241899159 single base substitution G C intron_variant PRAD-CA 1 241899819 241899819 single base substitution G T intron_variant PRAD-CA 1 241899925 241899925 single base substitution C T intron_variant PRAD-CA 1 241899925 241899925 single base substitution C T upstream_gene_variant PRAD-CA 1 241902276 241902276 single base substitution G A intron_variant PRAD-CA 1 241902276 241902276 single base substitution G A upstream_gene_variant PRAD-CA 1 241908325 241908325 single base substitution C T intron_variant PRAD-CA 1 241908325 241908325 single base substitution C T upstream_gene_variant PRAD-CA 1 241910343 241910343 single base substitution G A intron_variant PRAD-CA 1 241910343 241910343 single base substitution G A upstream_gene_variant PRAD-CA 1 241920733 241920733 single base substitution T C 3_prime_UTR_variant PRAD-CA 1 241920733 241920733 single base substitution T C exon_variant PRAD-CA 1 241920733 241920733 single base substitution T C missense_variant V108A 323T>C PRAD-CA 1 241920733 241920733 single base substitution T C missense_variant V401A 1202T>C PRAD-CA 1 241920733 241920733 single base substitution T C missense_variant V630A 1889T>C PRAD-CA 1 241930009 241930009 single base substitution A G intron_variant PRAD-CA 1 241930009 241930009 single base substitution A G upstream_gene_variant PRAD-CA 1 241935269 241935269 single base substitution T C intron_variant PRAD-CA 1 241939082 241939082 single base substitution C T intron_variant PRAD-CA 1 241942823 241942823 single base substitution T G intron_variant PRAD-CA 1 241945546 241945546 single base substitution C T intron_variant PRAD-CA 1 241948376 241948376 single base substitution C T intron_variant PRAD-CA 1 241952340 241952340 single base substitution C T downstream_gene_variant PRAD-CA 1 241952340 241952340 single base substitution C T intron_variant PRAD-CA 1 241961317 241961317 single base substitution T C downstream_gene_variant PRAD-CA 1 241961317 241961317 single base substitution T C intron_variant PRAD-CA 1 241966382 241966382 single base substitution T A downstream_gene_variant PRAD-UK 1 241814388 241814388 single base substitution T A upstream_gene_variant PRAD-UK 1 241837733 241837733 single base substitution T A intron_variant PRAD-UK 1 241839461 241839461 single base substitution C A exon_variant PRAD-UK 1 241839461 241839461 single base substitution C A intron_variant PRAD-UK 1 241855368 241855368 single base substitution G A intron_variant PRAD-UK 1 241856355 241856355 single base substitution A T intron_variant PRAD-UK 1 241868672 241868672 single base substitution T C intron_variant PRAD-UK 1 241870192 241870192 single base substitution C T intron_variant PRAD-UK 1 241875194 241875194 single base substitution G A intron_variant PRAD-UK 1 241886617 241886617 single base substitution G A exon_variant PRAD-UK 1 241886617 241886617 single base substitution G A missense_variant R119Q 356G>A PRAD-UK 1 241886617 241886617 single base substitution G A missense_variant R348Q 1043G>A PRAD-UK 1 241890479 241890479 single base substitution G A intron_variant PRAD-UK 1 241891971 241891971 single base substitution C G intron_variant PRAD-UK 1 241894647 241894647 single base substitution A T intron_variant PRAD-UK 1 241901321 241901321 single base substitution A C intron_variant PRAD-UK 1 241901321 241901321 single base substitution A C upstream_gene_variant PRAD-UK 1 241904967 241904967 single base substitution G T splice_donor_variant PRAD-UK 1 241906727 241906727 single base substitution C A intron_variant PRAD-UK 1 241906728 241906728 single base substitution T A intron_variant PRAD-UK 1 241909069 241909069 deletion of <=200bp C - intron_variant PRAD-UK 1 241909069 241909069 deletion of <=200bp C - upstream_gene_variant PRAD-UK 1 241909828 241909828 single base substitution A T intron_variant PRAD-UK 1 241909828 241909828 single base substitution A T upstream_gene_variant PRAD-UK 1 241915519 241915519 single base substitution C T intron_variant PRAD-UK 1 241915861 241915861 single base substitution C T intron_variant PRAD-UK 1 241916168 241916168 single base substitution C A intron_variant PRAD-UK 1 241916925 241916925 single base substitution G C intron_variant PRAD-UK 1 241925164 241925164 single base substitution A T intron_variant PRAD-UK 1 241929608 241929608 single base substitution G A 3_prime_UTR_variant PRAD-UK 1 241929608 241929608 single base substitution G A exon_variant PRAD-UK 1 241929608 241929608 single base substitution G A missense_variant G147D 440G>A PRAD-UK 1 241929608 241929608 single base substitution G A missense_variant G669D 2006G>A PRAD-UK 1 241929608 241929608 single base substitution G A splice_donor_variant PRAD-UK 1 241929608 241929608 single base substitution G A upstream_gene_variant PRAD-UK 1 241930435 241930435 single base substitution C G intron_variant PRAD-UK 1 241930435 241930435 single base substitution C G upstream_gene_variant PRAD-UK 1 241941069 241941069 single base substitution C A intron_variant PRAD-UK 1 241941295 241941295 single base substitution G C intron_variant PRAD-US 1 241912941 241912941 single base substitution C T exon_variant PRAD-US 1 241912941 241912941 single base substitution C T intron_variant PRAD-US 1 241912941 241912941 single base substitution C T missense_variant R31C 91C>T PRAD-US 1 241912941 241912941 single base substitution C T missense_variant R324C 970C>T PRAD-US 1 241912941 241912941 single base substitution C T missense_variant R553C 1657C>T PRAD-US 1 241946665 241946665 single base substitution C G 3_prime_UTR_variant PRAD-US 1 241946665 241946665 single base substitution C G exon_variant PRAD-US 1 241946665 241946665 single base substitution C G intron_variant PRAD-US 1 241946665 241946665 single base substitution C G missense_variant S364C 1091C>G PRAD-US 1 241946665 241946665 single base substitution C G missense_variant S490C 1469C>G PRAD-US 1 241946665 241946665 single base substitution C G missense_variant S719C 2156C>G PRAD-US 1 241946665 241946665 single base substitution C G missense_variant S886C 2657C>G READ-US 1 241834420 241834420 single base substitution G A exon_variant READ-US 1 241834420 241834420 single base substitution G A synonymous_variant Q107Q 321G>A READ-US 1 241850787 241850787 single base substitution C T downstream_gene_variant READ-US 1 241850787 241850787 single base substitution C T exon_variant READ-US 1 241850787 241850787 single base substitution C T synonymous_variant D278D 834C>T READ-US 1 241850787 241850787 single base substitution C T synonymous_variant D49D 147C>T READ-US 1 241929585 241929585 single base substitution G C 3_prime_UTR_variant READ-US 1 241929585 241929585 single base substitution G C exon_variant READ-US 1 241929585 241929585 single base substitution G C missense_variant L139F 417G>C READ-US 1 241929585 241929585 single base substitution G C missense_variant L432F 1296G>C READ-US 1 241929585 241929585 single base substitution G C missense_variant L661F 1983G>C READ-US 1 241929585 241929585 single base substitution G C upstream_gene_variant READ-US 1 241943340 241943340 single base substitution C T 3_prime_UTR_variant READ-US 1 241943340 241943340 single base substitution C T exon_variant READ-US 1 241943340 241943340 single base substitution C T synonymous_variant F325F 975C>T READ-US 1 241943340 241943340 single base substitution C T synonymous_variant F451F 1353C>T READ-US 1 241943340 241943340 single base substitution C T synonymous_variant F680F 2040C>T READ-US 1 241943340 241943340 single base substitution C T synonymous_variant F847F 2541C>T READ-US 1 241958535 241958535 single base substitution C T 3_prime_UTR_variant READ-US 1 241958535 241958535 single base substitution C T exon_variant READ-US 1 241958535 241958535 single base substitution C T synonymous_variant F476F 1428C>T READ-US 1 241958535 241958535 single base substitution C T synonymous_variant F602F 1806C>T READ-US 1 241958535 241958535 single base substitution C T synonymous_variant F831F 2493C>T READ-US 1 241958535 241958535 single base substitution C T synonymous_variant F998F 2994C>T READ-US 1 241959600 241959600 single base substitution C T 3_prime_UTR_variant READ-US 1 241959600 241959600 single base substitution C T synonymous_variant G1030G 3090C>T READ-US 1 241959600 241959600 single base substitution C T synonymous_variant G508G 1524C>T READ-US 1 241959600 241959600 single base substitution C T synonymous_variant G634G 1902C>T READ-US 1 241959600 241959600 single base substitution C T synonymous_variant G863G 2589C>T RECA-EU 1 241810611 241810611 single base substitution A T upstream_gene_variant RECA-EU 1 241811720 241811720 single base substitution A C upstream_gene_variant RECA-EU 1 241831101 241831101 single base substitution G T intron_variant RECA-EU 1 241837712 241837712 single base substitution T C intron_variant RECA-EU 1 241837713 241837713 single base substitution C A intron_variant RECA-EU 1 241846873 241846873 single base substitution G A exon_variant RECA-EU 1 241846873 241846873 single base substitution G A missense_variant D227N 679G>A RECA-EU 1 241846873 241846873 single base substitution G A upstream_gene_variant RECA-EU 1 241853150 241853150 single base substitution C T intron_variant RECA-EU 1 241854973 241854973 single base substitution C T intron_variant RECA-EU 1 241875126 241875126 single base substitution C T exon_variant RECA-EU 1 241875126 241875126 single base substitution C T missense_variant P323S 967C>T RECA-EU 1 241875126 241875126 single base substitution C T missense_variant P94S 280C>T RECA-EU 1 241880599 241880599 single base substitution G T intron_variant RECA-EU 1 241882232 241882232 single base substitution T C intron_variant RECA-EU 1 241884598 241884598 single base substitution T C intron_variant RECA-EU 1 241894855 241894855 single base substitution G T intron_variant RECA-EU 1 241897345 241897345 single base substitution G A intron_variant RECA-EU 1 241903309 241903309 single base substitution C A intron_variant RECA-EU 1 241903309 241903309 single base substitution C A upstream_gene_variant RECA-EU 1 241904147 241904147 single base substitution T A intron_variant RECA-EU 1 241904147 241904147 single base substitution T A upstream_gene_variant RECA-EU 1 241908784 241908784 single base substitution C T intron_variant RECA-EU 1 241908784 241908784 single base substitution C T upstream_gene_variant RECA-EU 1 241912339 241912339 single base substitution C G intron_variant RECA-EU 1 241912339 241912339 single base substitution C G upstream_gene_variant RECA-EU 1 241930010 241930010 single base substitution A G intron_variant RECA-EU 1 241930010 241930010 single base substitution A G upstream_gene_variant RECA-EU 1 241937726 241937726 single base substitution A G intron_variant RECA-EU 1 241943319 241943319 single base substitution C A 3_prime_UTR_variant RECA-EU 1 241943319 241943319 single base substitution C A exon_variant RECA-EU 1 241943319 241943319 single base substitution C A synonymous_variant I318I 954C>A RECA-EU 1 241943319 241943319 single base substitution C A synonymous_variant I444I 1332C>A RECA-EU 1 241943319 241943319 single base substitution C A synonymous_variant I673I 2019C>A RECA-EU 1 241943319 241943319 single base substitution C A synonymous_variant I840I 2520C>A RECA-EU 1 241952682 241952682 single base substitution T A downstream_gene_variant RECA-EU 1 241952682 241952682 single base substitution T A intron_variant SKCA-BR 1 241810703 241810705 deletion of <=200bp CAT - upstream_gene_variant SKCA-BR 1 241816705 241816705 single base substitution C T intron_variant SKCA-BR 1 241819900 241819900 single base substitution C T intron_variant SKCA-BR 1 241819900 241819900 single base substitution C T upstream_gene_variant SKCA-BR 1 241820180 241820180 insertion of <=200bp - GTGTGTA intron_variant SKCA-BR 1 241820180 241820180 insertion of <=200bp - GTGTGTA upstream_gene_variant SKCA-BR 1 241820182 241820182 insertion of <=200bp - GTGTA intron_variant SKCA-BR 1 241820182 241820182 insertion of <=200bp - GTGTA upstream_gene_variant SKCA-BR 1 241820186 241820186 single base substitution G A intron_variant SKCA-BR 1 241820186 241820186 single base substitution G A upstream_gene_variant SKCA-BR 1 241820491 241820491 single base substitution C T intron_variant SKCA-BR 1 241820491 241820491 single base substitution C T upstream_gene_variant SKCA-BR 1 241822804 241822804 single base substitution T C intron_variant SKCA-BR 1 241822804 241822804 single base substitution T C upstream_gene_variant SKCA-BR 1 241824968 241824968 single base substitution T C intron_variant SKCA-BR 1 241826675 241826675 single base substitution G A intron_variant SKCA-BR 1 241827980 241827980 single base substitution C T intron_variant SKCA-BR 1 241831578 241831578 single base substitution G A intron_variant SKCA-BR 1 241835223 241835223 single base substitution C T intron_variant SKCA-BR 1 241835236 241835236 single base substitution G A intron_variant SKCA-BR 1 241838145 241838145 single base substitution C T intron_variant SKCA-BR 1 241838270 241838270 insertion of <=200bp - TTC intron_variant SKCA-BR 1 241838873 241838873 single base substitution C A intron_variant SKCA-BR 1 241841079 241841079 single base substitution C T downstream_gene_variant SKCA-BR 1 241841079 241841079 single base substitution C T intron_variant SKCA-BR 1 241841080 241841080 single base substitution C T downstream_gene_variant SKCA-BR 1 241841080 241841080 single base substitution C T intron_variant SKCA-BR 1 241842616 241842616 single base substitution G A downstream_gene_variant SKCA-BR 1 241842616 241842616 single base substitution G A intron_variant SKCA-BR 1 241842616 241842616 single base substitution G A upstream_gene_variant SKCA-BR 1 241844087 241844087 insertion of <=200bp - GCAGACTCAGCTGGGCTCT downstream_gene_variant SKCA-BR 1 241844087 241844087 insertion of <=200bp - GCAGACTCAGCTGGGCTCT intron_variant SKCA-BR 1 241844087 241844087 insertion of <=200bp - GCAGACTCAGCTGGGCTCT upstream_gene_variant SKCA-BR 1 241847166 241847166 insertion of <=200bp - TAC downstream_gene_variant SKCA-BR 1 241847166 241847166 insertion of <=200bp - TAC intron_variant SKCA-BR 1 241847326 241847326 single base substitution A G downstream_gene_variant SKCA-BR 1 241847326 241847326 single base substitution A G intron_variant SKCA-BR 1 241847473 241847473 single base substitution G C downstream_gene_variant SKCA-BR 1 241847473 241847473 single base substitution G C intron_variant SKCA-BR 1 241849803 241849803 single base substitution T C downstream_gene_variant SKCA-BR 1 241849803 241849803 single base substitution T C intron_variant SKCA-BR 1 241850758 241850758 single base substitution C T downstream_gene_variant SKCA-BR 1 241850758 241850758 single base substitution C T splice_region_variant SKCA-BR 1 241852020 241852020 single base substitution C T intron_variant SKCA-BR 1 241857421 241857421 single base substitution G A intron_variant SKCA-BR 1 241858945 241858945 single base substitution T A intron_variant SKCA-BR 1 241858989 241858989 single base substitution A C intron_variant SKCA-BR 1 241861624 241861624 single base substitution C T intron_variant SKCA-BR 1 241862809 241862809 single base substitution G A intron_variant SKCA-BR 1 241863538 241863538 single base substitution C T intron_variant SKCA-BR 1 241863582 241863582 single base substitution G A intron_variant SKCA-BR 1 241863665 241863665 single base substitution C T intron_variant SKCA-BR 1 241864795 241864795 single base substitution T A intron_variant SKCA-BR 1 241871658 241871658 single base substitution C T intron_variant SKCA-BR 1 241872001 241872006 deletion of <=200bp TTTTTG - intron_variant SKCA-BR 1 241872003 241872006 deletion of <=200bp TTTG - intron_variant SKCA-BR 1 241872023 241872023 single base substitution T C intron_variant SKCA-BR 1 241873212 241873212 single base substitution G A intron_variant SKCA-BR 1 241874538 241874538 insertion of <=200bp - CA intron_variant SKCA-BR 1 241875236 241875236 single base substitution C T intron_variant SKCA-BR 1 241875616 241875616 single base substitution G A intron_variant SKCA-BR 1 241876508 241876508 single base substitution G A intron_variant SKCA-BR 1 241876860 241876860 single base substitution G A intron_variant SKCA-BR 1 241877635 241877635 single base substitution C T intron_variant SKCA-BR 1 241882133 241882133 single base substitution G A intron_variant SKCA-BR 1 241883739 241883739 single base substitution C T intron_variant SKCA-BR 1 241884033 241884033 single base substitution T A intron_variant SKCA-BR 1 241884583 241884583 single base substitution C T intron_variant SKCA-BR 1 241886362 241886362 single base substitution A G intron_variant SKCA-BR 1 241887563 241887563 single base substitution C T intron_variant SKCA-BR 1 241887982 241887982 single base substitution A C intron_variant SKCA-BR 1 241891649 241891650 deletion of <=200bp AG - intron_variant SKCA-BR 1 241892899 241892899 single base substitution C T intron_variant SKCA-BR 1 241894649 241894649 insertion of <=200bp - AT intron_variant SKCA-BR 1 241897574 241897574 single base substitution C T intron_variant SKCA-BR 1 241897983 241897983 single base substitution C T intron_variant SKCA-BR 1 241898853 241898853 single base substitution T G intron_variant SKCA-BR 1 241899121 241899133 deletion of <=200bp TTCTATCTCTCTC - intron_variant SKCA-BR 1 241899125 241899125 single base substitution A C intron_variant SKCA-BR 1 241899131 241899131 single base substitution C T intron_variant SKCA-BR 1 241899157 241899159 deletion of <=200bp CTG - intron_variant SKCA-BR 1 241900309 241900309 single base substitution C T intron_variant SKCA-BR 1 241900309 241900309 single base substitution C T upstream_gene_variant SKCA-BR 1 241901582 241901582 single base substitution C T intron_variant SKCA-BR 1 241901582 241901582 single base substitution C T upstream_gene_variant SKCA-BR 1 241902320 241902320 single base substitution G A intron_variant SKCA-BR 1 241902320 241902320 single base substitution G A upstream_gene_variant SKCA-BR 1 241905021 241905021 single base substitution C T intron_variant SKCA-BR 1 241906865 241906865 single base substitution A C intron_variant SKCA-BR 1 241910063 241910063 insertion of <=200bp - CT intron_variant SKCA-BR 1 241910063 241910063 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 1 241910466 241910466 single base substitution T G intron_variant SKCA-BR 1 241910466 241910466 single base substitution T G upstream_gene_variant SKCA-BR 1 241910469 241910469 single base substitution T G intron_variant SKCA-BR 1 241910469 241910469 single base substitution T G upstream_gene_variant SKCA-BR 1 241911729 241911729 single base substitution T C intron_variant SKCA-BR 1 241911729 241911729 single base substitution T C upstream_gene_variant SKCA-BR 1 241913734 241913734 single base substitution C T intron_variant SKCA-BR 1 241914626 241914626 single base substitution T C intron_variant SKCA-BR 1 241917994 241917994 single base substitution C T intron_variant SKCA-BR 1 241919787 241919787 single base substitution C T intron_variant SKCA-BR 1 241920851 241920851 single base substitution G A intron_variant SKCA-BR 1 241922492 241922492 single base substitution G A intron_variant SKCA-BR 1 241923232 241923232 single base substitution G A intron_variant SKCA-BR 1 241926809 241926809 single base substitution C T intron_variant SKCA-BR 1 241928612 241928612 single base substitution G A intron_variant SKCA-BR 1 241929304 241929304 single base substitution G A intron_variant SKCA-BR 1 241929304 241929304 single base substitution G A upstream_gene_variant SKCA-BR 1 241930283 241930283 single base substitution C T intron_variant SKCA-BR 1 241930283 241930283 single base substitution C T upstream_gene_variant SKCA-BR 1 241930653 241930653 insertion of <=200bp - TC intron_variant SKCA-BR 1 241930653 241930653 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 1 241935235 241935267 deletion of <=200bp CATACATACATACATATATATATATATATATAT - intron_variant SKCA-BR 1 241935239 241935261 deletion of <=200bp CATACATACATATATATATATAT - intron_variant SKCA-BR 1 241935247 241935247 single base substitution C T intron_variant SKCA-BR 1 241935255 241935255 single base substitution T C intron_variant SKCA-BR 1 241937113 241937113 single base substitution C T intron_variant SKCA-BR 1 241937732 241937732 single base substitution T C intron_variant SKCA-BR 1 241941310 241941310 single base substitution T C intron_variant SKCA-BR 1 241942195 241942195 single base substitution A G intron_variant SKCA-BR 1 241942875 241942875 single base substitution C A intron_variant SKCA-BR 1 241944081 241944081 single base substitution A T intron_variant SKCA-BR 1 241944660 241944660 single base substitution G A intron_variant SKCA-BR 1 241945845 241945845 single base substitution G C intron_variant SKCA-BR 1 241948255 241948255 insertion of <=200bp - GGA intron_variant SKCA-BR 1 241948256 241948256 single base substitution A G intron_variant SKCA-BR 1 241948278 241948278 single base substitution A G intron_variant SKCA-BR 1 241954193 241954193 single base substitution G A downstream_gene_variant SKCA-BR 1 241954193 241954193 single base substitution G A intron_variant SKCA-BR 1 241954194 241954194 single base substitution G A downstream_gene_variant SKCA-BR 1 241954194 241954194 single base substitution G A intron_variant SKCA-BR 1 241957804 241957806 deletion of <=200bp CTG - intron_variant SKCA-BR 1 241958044 241958044 single base substitution C T intron_variant SKCA-BR 1 241958401 241958401 insertion of <=200bp - CTTGT intron_variant SKCA-BR 1 241958734 241958734 single base substitution C T intron_variant SKCA-BR 1 241967947 241967947 single base substitution C A downstream_gene_variant SKCA-BR 1 241968905 241968905 single base substitution C T downstream_gene_variant SKCA-BR 1 241968998 241968998 single base substitution C T downstream_gene_variant SKCA-BR 1 241969619 241969619 single base substitution A C downstream_gene_variant SKCA-BR 1 241969743 241969743 single base substitution T A downstream_gene_variant SKCM-US 1 241886654 241886654 single base substitution G A exon_variant SKCM-US 1 241886654 241886654 single base substitution G A synonymous_variant G131G 393G>A SKCM-US 1 241886654 241886654 single base substitution G A synonymous_variant G360G 1080G>A SKCM-US 1 241901671 241901671 single base substitution C T exon_variant SKCM-US 1 241901671 241901671 single base substitution C T missense_variant R162W 484C>T SKCM-US 1 241901671 241901671 single base substitution C T missense_variant R391W 1171C>T SKCM-US 1 241901671 241901671 single base substitution C T upstream_gene_variant SKCM-US 1 241904893 241904893 single base substitution G A exon_variant SKCM-US 1 241904893 241904893 single base substitution G A missense_variant R227Q 680G>A SKCM-US 1 241904893 241904893 single base substitution G A missense_variant R456Q 1367G>A SKCM-US 1 241904917 241904917 single base substitution A G exon_variant SKCM-US 1 241904917 241904917 single base substitution A G missense_variant N235S 704A>G SKCM-US 1 241904917 241904917 single base substitution A G missense_variant N464S 1391A>G SKCM-US 1 241907714 241907714 single base substitution G A exon_variant SKCM-US 1 241907714 241907714 single base substitution G A missense_variant G258E 773G>A SKCM-US 1 241907714 241907714 single base substitution G A missense_variant G487E 1460G>A SKCM-US 1 241907749 241907749 single base substitution T G exon_variant SKCM-US 1 241907749 241907749 single base substitution T G missense_variant F270V 808T>G SKCM-US 1 241907749 241907749 single base substitution T G missense_variant F499V 1495T>G SKCM-US 1 241907818 241907818 single base substitution G A missense_variant G293R 877G>A SKCM-US 1 241907818 241907818 single base substitution G A missense_variant G522R 1564G>A SKCM-US 1 241907818 241907818 single base substitution G A splice_region_variant SKCM-US 1 241912906 241912906 single base substitution G A exon_variant SKCM-US 1 241912906 241912906 single base substitution G A intron_variant SKCM-US 1 241912906 241912906 single base substitution G A missense_variant G19E 56G>A SKCM-US 1 241912906 241912906 single base substitution G A missense_variant G312E 935G>A SKCM-US 1 241912906 241912906 single base substitution G A missense_variant G541E 1622G>A SKCM-US 1 241929524 241929524 single base substitution C T 3_prime_UTR_variant SKCM-US 1 241929524 241929524 single base substitution C T exon_variant SKCM-US 1 241929524 241929524 single base substitution C T missense_variant P119L 356C>T SKCM-US 1 241929524 241929524 single base substitution C T missense_variant P412L 1235C>T SKCM-US 1 241929524 241929524 single base substitution C T missense_variant P641L 1922C>T SKCM-US 1 241929524 241929524 single base substitution C T upstream_gene_variant SKCM-US 1 241953905 241953905 single base substitution G A 3_prime_UTR_variant SKCM-US 1 241953905 241953905 single base substitution G A downstream_gene_variant SKCM-US 1 241953905 241953905 single base substitution G A intron_variant SKCM-US 1 241953905 241953905 single base substitution G A missense_variant M436I 1308G>A SKCM-US 1 241953905 241953905 single base substitution G A missense_variant M562I 1686G>A SKCM-US 1 241953905 241953905 single base substitution G A missense_variant M791I 2373G>A SKCM-US 1 241953905 241953905 single base substitution G A missense_variant M958I 2874G>A SKCM-US 1 241958551 241958551 single base substitution G A 3_prime_UTR_variant SKCM-US 1 241958551 241958551 single base substitution G A missense_variant E1004K 3010G>A SKCM-US 1 241958551 241958551 single base substitution G A missense_variant E482K 1444G>A SKCM-US 1 241958551 241958551 single base substitution G A missense_variant E608K 1822G>A SKCM-US 1 241958551 241958551 single base substitution G A missense_variant E837K 2509G>A SKCM-US 1 241959637 241959637 single base substitution G A 3_prime_UTR_variant SKCM-US 1 241959637 241959637 single base substitution G A downstream_gene_variant SKCM-US 1 241959637 241959637 single base substitution G A missense_variant G1043R 3127G>A SKCM-US 1 241959637 241959637 single base substitution G A missense_variant G521R 1561G>A SKCM-US 1 241959637 241959637 single base substitution G A missense_variant G647R 1939G>A SKCM-US 1 241959637 241959637 single base substitution G A missense_variant G876R 2626G>A SKCM-US 1 241964441 241964441 single base substitution G A 3_prime_UTR_variant SKCM-US 1 241964441 241964441 single base substitution G A downstream_gene_variant SKCM-US 1 241964441 241964441 single base substitution G A missense_variant R1057Q 3170G>A SKCM-US 1 241964441 241964441 single base substitution G A missense_variant R535Q 1604G>A SKCM-US 1 241964441 241964441 single base substitution G A missense_variant R661Q 1982G>A SKCM-US 1 241964441 241964441 single base substitution G A missense_variant R890Q 2669G>A SKCM-US 1 241964447 241964447 single base substitution G A 3_prime_UTR_variant SKCM-US 1 241964447 241964447 single base substitution G A downstream_gene_variant SKCM-US 1 241964447 241964447 single base substitution G A missense_variant R1059K 3176G>A SKCM-US 1 241964447 241964447 single base substitution G A missense_variant R537K 1610G>A SKCM-US 1 241964447 241964447 single base substitution G A missense_variant R663K 1988G>A SKCM-US 1 241964447 241964447 single base substitution G A missense_variant R892K 2675G>A SKCM-US 1 241964494 241964494 single base substitution T G 3_prime_UTR_variant SKCM-US 1 241964494 241964494 single base substitution T G downstream_gene_variant SKCM-US 1 241964494 241964494 single base substitution T G missense_variant F1075V 3223T>G SKCM-US 1 241964494 241964494 single base substitution T G missense_variant F553V 1657T>G SKCM-US 1 241964494 241964494 single base substitution T G missense_variant F679V 2035T>G SKCM-US 1 241964494 241964494 single base substitution T G missense_variant F908V 2722T>G SKCM-US 1 241964495 241964495 single base substitution T C 3_prime_UTR_variant SKCM-US 1 241964495 241964495 single base substitution T C downstream_gene_variant SKCM-US 1 241964495 241964495 single base substitution T C missense_variant F1075S 3224T>C SKCM-US 1 241964495 241964495 single base substitution T C missense_variant F553S 1658T>C SKCM-US 1 241964495 241964495 single base substitution T C missense_variant F679S 2036T>C SKCM-US 1 241964495 241964495 single base substitution T C missense_variant F908S 2723T>C STAD-US 1 241850767 241850767 deletion of <=200bp A - downstream_gene_variant STAD-US 1 241850767 241850767 deletion of <=200bp A - exon_variant STAD-US 1 241850767 241850767 deletion of <=200bp A - frameshift_variant K272 STAD-US 1 241850767 241850767 deletion of <=200bp A - frameshift_variant K43 STAD-US 1 241904846 241904846 single base substitution G A exon_variant STAD-US 1 241904846 241904846 single base substitution G A synonymous_variant L211L 633G>A STAD-US 1 241904846 241904846 single base substitution G A synonymous_variant L440L 1320G>A STAD-US 1 241904846 241904846 single base substitution G A upstream_gene_variant STAD-US 1 241907814 241907814 single base substitution T C exon_variant STAD-US 1 241907814 241907814 single base substitution T C splice_region_variant STAD-US 1 241907814 241907814 single base substitution T C synonymous_variant Y291Y 873T>C STAD-US 1 241907814 241907814 single base substitution T C synonymous_variant Y520Y 1560T>C STAD-US 1 241912901 241912901 single base substitution G T exon_variant STAD-US 1 241912901 241912901 single base substitution G T intron_variant STAD-US 1 241912901 241912901 single base substitution G T synonymous_variant P17P 51G>T STAD-US 1 241912901 241912901 single base substitution G T synonymous_variant P310P 930G>T STAD-US 1 241912901 241912901 single base substitution G T synonymous_variant P539P 1617G>T STAD-US 1 241912907 241912907 single base substitution G A exon_variant STAD-US 1 241912907 241912907 single base substitution G A intron_variant STAD-US 1 241912907 241912907 single base substitution G A synonymous_variant G19G 57G>A STAD-US 1 241912907 241912907 single base substitution G A synonymous_variant G312G 936G>A STAD-US 1 241912907 241912907 single base substitution G A synonymous_variant G541G 1623G>A STAD-US 1 241946608 241946608 single base substitution C A 3_prime_UTR_variant STAD-US 1 241946608 241946608 single base substitution C A exon_variant STAD-US 1 241946608 241946608 single base substitution C A intron_variant STAD-US 1 241946608 241946608 single base substitution C A missense_variant S345Y 1034C>A STAD-US 1 241946608 241946608 single base substitution C A missense_variant S471Y 1412C>A STAD-US 1 241946608 241946608 single base substitution C A missense_variant S700Y 2099C>A STAD-US 1 241946608 241946608 single base substitution C A missense_variant S867Y 2600C>A STAD-US 1 241951289 241951289 single base substitution C A 3_prime_UTR_variant STAD-US 1 241951289 241951289 single base substitution C A downstream_gene_variant STAD-US 1 241951289 241951289 single base substitution C A exon_variant STAD-US 1 241951289 241951289 single base substitution C A missense_variant F416L 1248C>A STAD-US 1 241951289 241951289 single base substitution C A missense_variant F542L 1626C>A STAD-US 1 241951289 241951289 single base substitution C A missense_variant F771L 2313C>A STAD-US 1 241951289 241951289 single base substitution C A missense_variant F938L 2814C>A STAD-US 1 241959588 241959588 single base substitution T A 3_prime_UTR_variant STAD-US 1 241959588 241959588 single base substitution T A synonymous_variant L1026L 3078T>A STAD-US 1 241959588 241959588 single base substitution T A synonymous_variant L504L 1512T>A STAD-US 1 241959588 241959588 single base substitution T A synonymous_variant L630L 1890T>A STAD-US 1 241959588 241959588 single base substitution T A synonymous_variant L859L 2577T>A STAD-US 1 241959601 241959601 single base substitution G A 3_prime_UTR_variant STAD-US 1 241959601 241959601 single base substitution G A downstream_gene_variant STAD-US 1 241959601 241959601 single base substitution G A missense_variant V1031I 3091G>A STAD-US 1 241959601 241959601 single base substitution G A missense_variant V509I 1525G>A STAD-US 1 241959601 241959601 single base substitution G A missense_variant V635I 1903G>A STAD-US 1 241959601 241959601 single base substitution G A missense_variant V864I 2590G>A STAD-US 1 241964455 241964455 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 1 241964455 241964455 deletion of <=200bp A - downstream_gene_variant STAD-US 1 241964455 241964455 deletion of <=200bp A - frameshift_variant K1062 STAD-US 1 241964455 241964455 deletion of <=200bp A - frameshift_variant K540 STAD-US 1 241964455 241964455 deletion of <=200bp A - frameshift_variant K666 STAD-US 1 241964455 241964455 deletion of <=200bp A - frameshift_variant K895 UCEC-US 1 241823885 241823885 single base substitution G T exon_variant UCEC-US 1 241823885 241823885 single base substitution G T missense_variant D67Y 199G>T UCEC-US 1 241823885 241823885 single base substitution G T upstream_gene_variant UCEC-US 1 241834464 241834464 single base substitution G A exon_variant UCEC-US 1 241834464 241834464 single base substitution G A missense_variant R122Q 365G>A UCEC-US 1 241842790 241842790 single base substitution A G downstream_gene_variant UCEC-US 1 241842790 241842790 single base substitution A G exon_variant UCEC-US 1 241842790 241842790 single base substitution A G missense_variant T163A 487A>G UCEC-US 1 241842790 241842790 single base substitution A G upstream_gene_variant UCEC-US 1 241842833 241842833 single base substitution G A downstream_gene_variant UCEC-US 1 241842833 241842833 single base substitution G A exon_variant UCEC-US 1 241842833 241842833 single base substitution G A missense_variant R177Q 530G>A UCEC-US 1 241842833 241842833 single base substitution G A upstream_gene_variant UCEC-US 1 241846829 241846830 deletion of <=200bp TG - exon_variant UCEC-US 1 241846829 241846830 deletion of <=200bp TG - frameshift_variant L212 UCEC-US 1 241846829 241846830 deletion of <=200bp TG - upstream_gene_variant UCEC-US 1 241846910 241846910 single base substitution G T exon_variant UCEC-US 1 241846910 241846910 single base substitution G T missense_variant R10I 29G>T UCEC-US 1 241846910 241846910 single base substitution G T missense_variant R239I 716G>T UCEC-US 1 241850845 241850845 single base substitution G T downstream_gene_variant UCEC-US 1 241850845 241850845 single base substitution G T exon_variant UCEC-US 1 241850845 241850845 single base substitution G T missense_variant D298Y 892G>T UCEC-US 1 241850845 241850845 single base substitution G T missense_variant D69Y 205G>T UCEC-US 1 241850886 241850886 single base substitution C T downstream_gene_variant UCEC-US 1 241850886 241850886 single base substitution C T exon_variant UCEC-US 1 241850886 241850886 single base substitution C T synonymous_variant L311L 933C>T UCEC-US 1 241850886 241850886 single base substitution C T synonymous_variant L82L 246C>T UCEC-US 1 241875108 241875108 single base substitution G A exon_variant UCEC-US 1 241875108 241875108 single base substitution G A missense_variant V317I 949G>A UCEC-US 1 241875108 241875108 single base substitution G A missense_variant V88I 262G>A UCEC-US 1 241875121 241875121 single base substitution C T exon_variant UCEC-US 1 241875121 241875121 single base substitution C T missense_variant S321F 962C>T UCEC-US 1 241875121 241875121 single base substitution C T missense_variant S92F 275C>T UCEC-US 1 241875152 241875152 single base substitution C A exon_variant UCEC-US 1 241875152 241875152 single base substitution C A stop_gained Y102* 306C>A UCEC-US 1 241875152 241875152 single base substitution C A stop_gained Y331* 993C>A UCEC-US 1 241901768 241901768 single base substitution C T exon_variant UCEC-US 1 241901768 241901768 single base substitution C T missense_variant A194V 581C>T UCEC-US 1 241901768 241901768 single base substitution C T missense_variant A423V 1268C>T UCEC-US 1 241901768 241901768 single base substitution C T upstream_gene_variant UCEC-US 1 241904856 241904856 single base substitution A C exon_variant UCEC-US 1 241904856 241904856 single base substitution A C missense_variant I215L 643A>C UCEC-US 1 241904856 241904856 single base substitution A C missense_variant I444L 1330A>C UCEC-US 1 241912991 241912991 single base substitution C A exon_variant UCEC-US 1 241912991 241912991 single base substitution C A splice_region_variant UCEC-US 1 241912991 241912991 single base substitution C A synonymous_variant A340A 1020C>A UCEC-US 1 241912991 241912991 single base substitution C A synonymous_variant A47A 141C>A UCEC-US 1 241912991 241912991 single base substitution C A synonymous_variant A569A 1707C>A UCEC-US 1 241913010 241913010 single base substitution A G exon_variant UCEC-US 1 241913010 241913010 single base substitution A G missense_variant I347V 1039A>G UCEC-US 1 241913010 241913010 single base substitution A G missense_variant I54V 160A>G UCEC-US 1 241913010 241913010 single base substitution A G missense_variant I576V 1726A>G UCEC-US 1 241920634 241920634 single base substitution T G 3_prime_UTR_variant UCEC-US 1 241920634 241920634 single base substitution T G exon_variant UCEC-US 1 241920634 241920634 single base substitution T G missense_variant V368G 1103T>G UCEC-US 1 241920634 241920634 single base substitution T G missense_variant V597G 1790T>G UCEC-US 1 241920634 241920634 single base substitution T G missense_variant V75G 224T>G UCEC-US 1 241920703 241920703 single base substitution C T 3_prime_UTR_variant UCEC-US 1 241920703 241920703 single base substitution C T exon_variant UCEC-US 1 241920703 241920703 single base substitution C T missense_variant A391V 1172C>T UCEC-US 1 241920703 241920703 single base substitution C T missense_variant A620V 1859C>T UCEC-US 1 241920703 241920703 single base substitution C T missense_variant A98V 293C>T UCEC-US 1 241946669 241946669 single base substitution C T 3_prime_UTR_variant UCEC-US 1 241946669 241946669 single base substitution C T exon_variant UCEC-US 1 241946669 241946669 single base substitution C T intron_variant UCEC-US 1 241946669 241946669 single base substitution C T synonymous_variant I365I 1095C>T UCEC-US 1 241946669 241946669 single base substitution C T synonymous_variant I491I 1473C>T UCEC-US 1 241946669 241946669 single base substitution C T synonymous_variant I720I 2160C>T UCEC-US 1 241946669 241946669 single base substitution C T synonymous_variant I887I 2661C>T UCEC-US 1 241946670 241946670 single base substitution G A 3_prime_UTR_variant UCEC-US 1 241946670 241946670 single base substitution G A exon_variant UCEC-US 1 241946670 241946670 single base substitution G A intron_variant UCEC-US 1 241946670 241946670 single base substitution G A missense_variant D366N 1096G>A UCEC-US 1 241946670 241946670 single base substitution G A missense_variant D492N 1474G>A UCEC-US 1 241946670 241946670 single base substitution G A missense_variant D721N 2161G>A UCEC-US 1 241946670 241946670 single base substitution G A missense_variant D888N 2662G>A UCEC-US 1 241951197 241951197 single base substitution C T 3_prime_UTR_variant UCEC-US 1 241951197 241951197 single base substitution C T downstream_gene_variant UCEC-US 1 241951197 241951197 single base substitution C T exon_variant UCEC-US 1 241951197 241951197 single base substitution C T stop_gained R386* 1156C>T UCEC-US 1 241951197 241951197 single base substitution C T stop_gained R512* 1534C>T UCEC-US 1 241951197 241951197 single base substitution C T stop_gained R741* 2221C>T UCEC-US 1 241951197 241951197 single base substitution C T stop_gained R908* 2722C>T UCEC-US 1 241951227 241951227 single base substitution G T 3_prime_UTR_variant UCEC-US 1 241951227 241951227 single base substitution G T downstream_gene_variant UCEC-US 1 241951227 241951227 single base substitution G T exon_variant UCEC-US 1 241951227 241951227 single base substitution G T missense_variant D396Y 1186G>T UCEC-US 1 241951227 241951227 single base substitution G T missense_variant D522Y 1564G>T UCEC-US 1 241951227 241951227 single base substitution G T missense_variant D751Y 2251G>T UCEC-US 1 241951227 241951227 single base substitution G T missense_variant D918Y 2752G>T UCEC-US 1 241951278 241951278 single base substitution G T 3_prime_UTR_variant UCEC-US 1 241951278 241951278 single base substitution G T downstream_gene_variant UCEC-US 1 241951278 241951278 single base substitution G T exon_variant UCEC-US 1 241951278 241951278 single base substitution G T stop_gained E413* 1237G>T UCEC-US 1 241951278 241951278 single base substitution G T stop_gained E539* 1615G>T UCEC-US 1 241951278 241951278 single base substitution G T stop_gained E768* 2302G>T UCEC-US 1 241951278 241951278 single base substitution G T stop_gained E935* 2803G>T UCEC-US 1 241953963 241953963 single base substitution G A 3_prime_UTR_variant UCEC-US 1 241953963 241953963 single base substitution G A downstream_gene_variant UCEC-US 1 241953963 241953963 single base substitution G A intron_variant UCEC-US 1 241953963 241953963 single base substitution G A missense_variant D456N 1366G>A UCEC-US 1 241953963 241953963 single base substitution G A missense_variant D582N 1744G>A UCEC-US 1 241953963 241953963 single base substitution G A missense_variant D811N 2431G>A UCEC-US 1 241953963 241953963 single base substitution G A missense_variant D978N 2932G>A UCEC-US 1 241959625 241959625 single base substitution G A 3_prime_UTR_variant UCEC-US 1 241959625 241959625 single base substitution G A downstream_gene_variant UCEC-US 1 241959625 241959625 single base substitution G A missense_variant D1039N 3115G>A UCEC-US 1 241959625 241959625 single base substitution G A missense_variant D517N 1549G>A UCEC-US 1 241959625 241959625 single base substitution G A missense_variant D643N 1927G>A UCEC-US 1 241959625 241959625 single base substitution G A missense_variant D872N 2614G>A UCEC-US 1 241964471 241964471 single base substitution C A 3_prime_UTR_variant UCEC-US 1 241964471 241964471 single base substitution C A downstream_gene_variant UCEC-US 1 241964471 241964471 single base substitution C A missense_variant P1067Q 3200C>A UCEC-US 1 241964471 241964471 single base substitution C A missense_variant P545Q 1634C>A UCEC-US 1 241964471 241964471 single base substitution C A missense_variant P671Q 2012C>A UCEC-US 1 241964471 241964471 single base substitution C A missense_variant P900Q 2699C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 8044594 COSM3385960 c.1441-2A>G p.? Unknown 1:241744391-241744391 + TCGA-22-4599-01 COSM679687 c.1935A>G p.L645L Substitution - coding silent 1:241766235-241766235 + YUROL COSM5380254 c.2097C>T p.P699P Substitution - coding silent 1:241769449-241769449 + TCGA-CC-5259-01 COSM4928153 c.2590C>T p.R864C Substitution - Missense 1:241783296-241783296 + ESCC-F38 COSM5047625 c.41A>G p.Q14R Substitution - Missense 1:241652525-241652525 + CSCC-60-T COSM4459220 c.1116C>T p.I372I Substitution - coding silent 1:241723388-241723388 + DLD1 COSM1668618 c.862C>A p.L288M Substitution - Missense 1:241749684-241749684 + SM-4B296 COSM4410382 c.863T>C p.L288P Substitution - Missense 1:241749685-241749685 + PT27 COSM5520368 c.1525G>A p.D509N Substitution - Missense 1:241744477-241744477 + TCGA-A2-A04Y-01 COSM425757 c.214G>C p.D72H Substitution - Missense 1:241660598-241660598 + TCGA-AG-A026-01 COSM290552 c.756G>C p.G252G Substitution - coding silent 1:241749578-241749578 + TCGA-AM-5820-01 COSM3751040 c.1513C>T p.R505W Substitution - Missense 1:241788027-241788027 + TCGA-06-5858-01 COSM1340662 c.1250G>A p.R417H Substitution - Missense 1:241783297-241783297 + TCGA-FS-A1YY-06 COSM3486155 c.551A>G p.N184S Substitution - Missense 1:241741615-241741615 + TCGA-B5-A11E-01 COSM906466 c.428C>T p.A143V Substitution - Missense 1:241738466-241738466 + PD3890a COSM3664716 c.945-5T>C p.? Unknown 1:241711797-241711797 + TCGA-D7-A4YX-01 COSM1340665 c.3091G>A p.V1031I Substitution - Missense 1:241796299-241796299 + C0100T COSM4165108 c.127C>T p.P43S Substitution - Missense 1:241711824-241711824 + TCGA-BR-8680-01 COSM4030183 c.1473C>A p.F491L Substitution - Missense 1:241787987-241787987 + LUAD-B01970 COSM355959 c.1840T>G p.L614V Substitution - Missense 1:241801150-241801150 + HCC51 COSM1601999 c.267C>T p.I89I Substitution - coding silent 1:241723379-241723379 + TCGA-B5-A11O-01 COSM906477 c.1018G>T p.A340S Substitution - Missense 1:241757400-241757400 + KYSE110 COSM5049385 c.1786G>T p.D596Y Substitution - Missense 1:241757328-241757328 + TCGA-18-3409-01 COSM679701 c.1079G>A p.G360E Substitution - Missense 1:241723351-241723351 + TCGA-EE-A3J7-06 COSM3864970 c.1922C>T p.P641L Substitution - Missense 1:241766222-241766222 + TCGA-BS-A0UV-01 COSM906468 c.490A>C p.I164L Substitution - Missense 1:241741554-241741554 + HCC99T COSM3705700 c.2372A>T p.D791V Substitution - Missense 1:241772903-241772903 + TCGA-AG-4005-01 COSM5070901 c.3189_3190insC p.N1064fs*>19 Insertion - Frameshift 1:241801158-241801159 + TCGA-D1-A17Q-01 COSM906494 c.3115G>A p.D1039N Substitution - Missense 1:241796323-241796323 + TCGA-AC-A3W5-01 COSM3804572 c.821T>G p.L274R Substitution - Missense 1:241749643-241749643 + TCGA-AM-5820-01 COSM3751041 c.2854C>T p.R952W Substitution - Missense 1:241788027-241788027 + TCGA-BR-4257-01 COSM4030178 c.1617G>T p.P539P Substitution - coding silent 1:241749599-241749599 + TCGA-BR-4370-01 COSM4030175 c.720T>C p.Y240Y Substitution - coding silent 1:241744512-241744512 + PD4127a COSM165586 c.924C>T p.L308L Substitution - coding silent 1:241757306-241757306 + TCGA-B5-A11V-01 COSM906496 c.3200C>A p.P1067Q Substitution - Missense 1:241801169-241801169 + TCGA-EE-A2MR-06 COSM3486164 c.3010G>A p.E1004K Substitution - Missense 1:241795249-241795249 + PD4953a COSM5771577 c.325-5T>C p.? Unknown 1:241738358-241738358 + T155 COSM1176515 c.1753G>T p.D585Y Substitution - Missense 1:241757295-241757295 + TCGA-A5-A0GH-01 COSM906456 c.109G>A p.V37I Substitution - Missense 1:241711806-241711806 + S02401 COSM5700004 c.2007T>C p.G669G Substitution - coding silent 1:241766307-241766307 + CHC2113T COSM4788356 c.645T>C p.C215C Substitution - coding silent 1:241683537-241683537 + PDA_031 COSM4999503 c.298C>A p.H100N Substitution - Missense 1:241723410-241723410 + 587316 COSM1232626 c.1742T>C p.L581P Substitution - Missense 1:241796291-241796291 + LUAD-B01970 COSM355960 c.3181T>G p.L1061V Substitution - Missense 1:241801150-241801150 + pfg272T COSM4764919 c.1391T>G p.F464C Substitution - Missense 1:241787905-241787905 + SK-MEL-2 COSM1668614 c.101A>G p.N34S Substitution - Missense 1:241687592-241687592 + CHC703T COSM4957427 c.1428T>A p.C476* Substitution - Nonsense 1:241787942-241787942 + T3090 COSM4741043 c.3192delT p.L1065fs*1 Deletion - Frameshift 1:241801161-241801161 + 2492714 COSM5718557 c.773T>G p.L258W Substitution - Missense 1:241749595-241749595 + TCGA-F4-6856-01 COSM5173658 c.2311C>T p.H771Y Substitution - Missense 1:241772842-241772842 + TCGA-F5-6814-01 COSM3418979 c.2541C>T p.F847F Substitution - coding silent 1:241780038-241780038 + TCGA-IR-A3LK-01 COSM4816472 c.304G>T p.D102Y Substitution - Missense 1:241671101-241671101 + sysucc-1370T COSM2050110 c.1144G>A p.V382I Substitution - Missense 1:241723416-241723416 + PD22364a COSM5777520 c.579C>T p.I193I Substitution - coding silent 1:241741643-241741643 + PT48 COSM5930793 c.2374G>A p.G792R Substitution - Missense 1:241772905-241772905 + TCGA-EE-A3JD-06 COSM4396340 c.620G>A p.G207E Substitution - Missense 1:241744412-241744412 + CSCC-27-T COSM4526021 c.1369G>A p.E457K Substitution - Missense 1:241741593-241741593 + TCGA-CC-5259-01 COSM4928152 c.1249C>T p.R417C Substitution - Missense 1:241783296-241783296 + TCGA-BS-A0UV-01 COSM906460 c.153C>A p.Y51* Substitution - Nonsense 1:241711850-241711850 + 587376 COSM1232637 c.1905A>C p.*635Y Nonstop extension 1:241801215-241801215 + 2492712 COSM5718557 c.773T>G p.L258W Substitution - Missense 1:241749595-241749595 + SJBALL020939_D1 COSM219147 c.1939C>T p.R647* Substitution - Nonsense 1:241766239-241766239 + T578 COSM4741041 c.3186A>C p.K1062N Substitution - Missense 1:241801155-241801155 + TCGA-AG-3892-01 COSM258366 c.839T>C p.V280A Substitution - Missense 1:241687490-241687490 + 3101B7_041_T COSM5041582 c.1708-2A>T p.? Unknown 1:241796255-241796255 + 260211 COSM3725554 c.754G>T p.A252S Substitution - Missense 1:241683646-241683646 + TCGA-AC-A23H-01 COSM3804574 c.2086G>A p.D696N Substitution - Missense 1:241769438-241769438 + CRC-13T COSM5479296 c.535G>A p.V179I Substitution - Missense 1:241679536-241679536 + TCGA-BS-A0UV-01 COSM906461 c.993C>A p.Y331* Substitution - Nonsense 1:241711850-241711850 + 587222 COSM1232628 c.529G>T p.E177* Substitution - Nonsense 1:241741593-241741593 + LUAD-S01357 COSM386247 c.1556C>A p.A519E Substitution - Missense 1:241744508-241744508 + TCGA-BR-8680-01 COSM4030181 c.1259C>A p.S420Y Substitution - Missense 1:241783306-241783306 + YUSWI COSM1690059 c.2549C>T p.P850L Substitution - Missense 1:241780046-241780046 + C0042T COSM4165110 c.1179C>A p.I393I Substitution - coding silent 1:241780017-241780017 + TCGA-BT-A0YX-01 COSM414546 c.1832G>C p.R611T Substitution - Missense 1:241801142-241801142 + CHC703T COSM4957428 c.2769T>A p.C923* Substitution - Nonsense 1:241787942-241787942 + SWE-6 COSM1178105 c.938A>T p.D313V Substitution - Missense 1:241687589-241687589 + J1_T COSM3977354 c.1246T>A p.W416R Substitution - Missense 1:241783293-241783293 + TCGA-EE-A29M-06 COSM3486149 c.240G>A p.G80G Substitution - coding silent 1:241723352-241723352 + CSCC-60-T COSM4540969 c.1579G>A p.E527K Substitution - Missense 1:241790649-241790649 + LP6005334-DNA_G03 COSM1340662 c.1250G>A p.R417H Substitution - Missense 1:241783297-241783297 + CHC1052T COSM1626935 c.1432A>G p.I478V Substitution - Missense 1:241741656-241741656 + TCGA-43-2578-01 COSM679696 c.1255A>C p.M419L Substitution - Missense 1:241738453-241738453 + RMH004-R2 COSM4411210 c.2585C>T p.S862F Substitution - Missense 1:241783291-241783291 + 058T COSM1729974 c.478A>T p.N160Y Substitution - Missense 1:241674742-241674742 + T155 COSM1177058 c.167T>G p.F56C Substitution - Missense 1:241660551-241660551 + TCGA-AB-2936-03 COSM1317556 c.858G>C p.L286L Substitution - coding silent 1:241749680-241749680 + T3724 COSM4741033 c.1758C>G p.I586M Substitution - Missense 1:241757300-241757300 + TCGA-FW-A3R5-06 COSM3864971 c.1533G>A p.M511I Substitution - Missense 1:241790603-241790603 + YUKLAB COSM1690055 c.1126G>A p.E376K Substitution - Missense 1:241723398-241723398 + TCGA-AG-3742-01 COSM1560741 c.1749C>T p.G583G Substitution - coding silent 1:241796298-241796298 + 0062_CRUK_PC_0062_T1_DNA COSM5421710 c.1165+1G>A p.? Unknown 1:241766306-241766306 + TCGA-A8-A08R-01 COSM425759 c.1642G>T p.E548* Substitution - Nonsense 1:241749624-241749624 + T578 COSM4741040 c.1845A>C p.K615N Substitution - Missense 1:241801155-241801155 + 2_RESISTANT COSM1722949 c.1453G>A p.E485K Substitution - Missense 1:241744405-241744405 + LUAD-E00934 COSM177118 c.1291G>T p.E431* Substitution - Nonsense 1:241783338-241783338 + 193 COSM1340647 c.223C>T p.R75C Substitution - Missense 1:241660607-241660607 + Pat_53_B COSM2050194 c.3028G>A p.G1010S Substitution - Missense 1:241795267-241795267 + TCGA-D3-A51G-06 COSM3486153 c.527G>A p.R176Q Substitution - Missense 1:241741591-241741591 + TCGA-AC-A3W5-01 COSM3804573 c.1661T>G p.L554R Substitution - Missense 1:241749643-241749643 + HCC76T COSM1602002 c.2952T>C p.S984S Substitution - coding silent 1:241790681-241790681 + CSCC-15-T COSM4511223 c.860C>T p.S287L Substitution - Missense 1:241687511-241687511 + TCGA-EE-A29N-06 COSM3486161 c.782G>A p.G261E Substitution - Missense 1:241749604-241749604 + CSCC-27-T COSM4552056 c.547G>A p.E183K Substitution - Missense 1:241679548-241679548 + UM-SCC-11B COSM4598170 c.793T>A p.S265T Substitution - Missense 1:241683685-241683685 + LP6005409-DNA_C04 COSM5953561 c.990G>A p.L330L Substitution - coding silent 1:241757372-241757372 + 587376 COSM1232638 c.3246A>C p.*1082Y Nonstop extension 1:241801215-241801215 + LUAD-S00488 COSM395162 c.72G>T p.R24S Substitution - Missense 1:241652556-241652556 + T3090 COSM4741042 c.1851delT p.L618fs*1 Deletion - Frameshift 1:241801161-241801161 + TCGA-FW-A3R5-06 COSM3864973 c.1829G>A p.R610Q Substitution - Missense 1:241801139-241801139 + TCGA-B5-A11V-01 COSM906495 c.1859C>A p.P620Q Substitution - Missense 1:241801169-241801169 + LUAD-E00918 COSM364946 c.633C>A p.Y211* Substitution - Nonsense 1:241744425-241744425 + TCGA-BS-A0UV-01 COSM906472 c.886A>G p.I296V Substitution - Missense 1:241749708-241749708 + 2521252 COSM5888641 c.2005G>A p.G669S Substitution - Missense 1:241766305-241766305 + C0042T COSM4165111 c.2520C>A p.I840I Substitution - coding silent 1:241780017-241780017 + 8044594 COSM3385959 c.601-2A>G p.? Unknown 1:241744391-241744391 + TCGA-EE-A3AA-06 COSM3486165 c.1786G>A p.G596R Substitution - Missense 1:241796335-241796335 + WM3211 COSM3727105 c.1133G>A p.G378E Substitution - Missense 1:241766273-241766273 + CSCC-27-T COSM4526020 c.529G>A p.E177K Substitution - Missense 1:241741593-241741593 + T155 COSM1176514 c.913G>T p.D305Y Substitution - Missense 1:241757295-241757295 + 2218458 COSM4421208 c.2220T>A p.S740R Substitution - Missense 1:241770687-241770687 + 262LT COSM146841 c.1856T>C p.V619A Substitution - Missense 1:241801166-241801166 + TCGA-A6-6141-01 COSM1340651 c.798G>T p.K266N Substitution - Missense 1:241683690-241683690 + TCGA-D1-A103-01 COSM906488 c.2752G>T p.D918Y Substitution - Missense 1:241787925-241787925 + HCC76T COSM1602001 c.1611T>C p.S537S Substitution - coding silent 1:241790681-241790681 + J30_T COSM3977353 c.2364T>G p.A788A Substitution - coding silent 1:241772895-241772895 + pfg020T COSM1639769 c.520C>T p.H174Y Substitution - Missense 1:241741584-241741584 + pfg272T COSM4764920 c.2732T>G p.F911C Substitution - Missense 1:241787905-241787905 + 587284 COSM1232632 c.345C>A p.F115L Substitution - Missense 1:241671142-241671142 + CHC1052T COSM1626934 c.592A>G p.I198V Substitution - Missense 1:241741656-241741656 + DLD1 COSM1668619 c.1702C>A p.L568M Substitution - Missense 1:241749684-241749684 + TCGA-AH-6643-01 COSM5075608 c.1745A>C p.K582T Substitution - Missense 1:241757287-241757287 + TCGA-AR-A24Q-01 COSM1473692 c.3142G>T p.G1048C Substitution - Missense 1:241796350-241796350 + PT41 COSM906446 c.487A>G p.T163A Substitution - Missense 1:241679488-241679488 + 2492711 COSM5718557 c.773T>G p.L258W Substitution - Missense 1:241749595-241749595 + TCGA-D1-A163-01 COSM906482 c.2661C>T p.I887I Substitution - coding silent 1:241783367-241783367 + TCGA-B5-A11E-01 COSM906467 c.1268C>T p.A423V Substitution - Missense 1:241738466-241738466 + CSCC-60-T COSM4459219 c.276C>T p.I92I Substitution - coding silent 1:241723388-241723388 + TCGA-A6-6649-01 COSM218399 c.2135G>A p.R712H Substitution - Missense 1:241769487-241769487 + TCGA-AX-A05Z-01 COSM906491 c.1591G>A p.D531N Substitution - Missense 1:241790661-241790661 + TCGA-FS-A1YY-06 COSM3486156 c.1391A>G p.N464S Substitution - Missense 1:241741615-241741615 + CHC2113T COSM4788356 c.645T>C p.C215C Substitution - coding silent 1:241683537-241683537 + TCGA-61-1722-01 COSM1320321 c.512C>G p.P171R Substitution - Missense 1:241741576-241741576 + 49M COSM5593974 c.234G>A p.R78R Substitution - coding silent 1:241660618-241660618 + HCC51T COSM1601999 c.267C>T p.I89I Substitution - coding silent 1:241723379-241723379 + TCGA-FU-A40J-01 COSM4844053 c.951C>G p.V317V Substitution - coding silent 1:241711808-241711808 + CHC703T COSM4957427 c.1428T>A p.C476* Substitution - Nonsense 1:241787942-241787942 + HCC99 COSM3705700 c.2372A>T p.D791V Substitution - Missense 1:241772903-241772903 + J1_T COSM3977355 c.2587T>A p.W863R Substitution - Missense 1:241783293-241783293 + 2492720 COSM906445 c.365G>A p.R122Q Substitution - Missense 1:241671162-241671162 + TCGA-D1-A163-01 COSM906481 c.1320C>T p.I440I Substitution - coding silent 1:241783367-241783367 + RMH004-R8 COSM4411210 c.2585C>T p.S862F Substitution - Missense 1:241783291-241783291 + 2250222 COSM5029490 c.457G>T p.G153* Substitution - Nonsense 1:241674721-241674721 + CPCG0268-F1 COSM4881046 c.1889T>C p.V630A Substitution - Missense 1:241757431-241757431 + TCGA-A5-A0GH-01 COSM906457 c.949G>A p.V317I Substitution - Missense 1:241711806-241711806 + ESCC_152 COSM5645325 c.184+1G>T p.? Unknown 1:241711882-241711882 + TCGA-CI-6624-01 COSM1560743 c.1143G>C p.L381F Substitution - Missense 1:241766283-241766283 + RMS106_ COSM4986719 c.1406C>G p.T469R Substitution - Missense 1:241787920-241787920 + CSCC-15-T COSM4511222 c.20C>T p.S7L Substitution - Missense 1:241687511-241687511 + CHC1052T COSM1626934 c.592A>G p.I198V Substitution - Missense 1:241741656-241741656 + TCGA-E7-A3X6-01 COSM3789725 c.1389C>G p.L463L Substitution - coding silent 1:241787903-241787903 + PT37 COSM1232631 c.2774T>C p.V925A Substitution - Missense 1:241787947-241787947 + TCGA-AG-A026-01 COSM906448 c.635_636delTG p.V216fs*5 Deletion - Frameshift 1:241683527-241683528 + TCGA-CK-5913-01 COSM1340662 c.1250G>A p.R417H Substitution - Missense 1:241783297-241783297 + TCGA-12-0656 COSM1340662 c.1250G>A p.R417H Substitution - Missense 1:241783297-241783297 + TCGA-E9-A1NA-01 COSM5229708 c.2261-1G>T p.? Unknown 1:241772791-241772791 + TCGA-D8-A1J9-01 COSM1473690 c.1146C>G p.V382V Substitution - coding silent 1:241723418-241723418 + TCGA-BR-4370-01 COSM4030176 c.1560T>C p.Y520Y Substitution - coding silent 1:241744512-241744512 + CSCC-31-T COSM4486483 c.3059C>T p.P1020L Substitution - Missense 1:241796267-241796267 + 14_T COSM3977352 c.2153+7C>T p.? Unknown 1:241769512-241769512 + TCGA-BR-4257-01 COSM4030177 c.777G>T p.P259P Substitution - coding silent 1:241749599-241749599 + PT17_1 COSM906447 c.530G>A p.R177Q Substitution - Missense 1:241679531-241679531 + CSCC-31-T COSM4487749 c.3225C>T p.F1075F Substitution - coding silent 1:241801194-241801194 + TCGA-CI-6623-01 COSM2050206 c.3184delA p.N1064fs*2 Deletion - Frameshift 1:241801153-241801153 + YUOTHO COSM5380253 c.2022G>A p.W674* Substitution - Nonsense 1:241766322-241766322 + PTC-7C COSM4143576 c.781G>T p.G261W Substitution - Missense 1:241749603-241749603 + S02237 COSM5676377 c.1665C>T p.N555N Substitution - coding silent 1:241795245-241795245 + LOVO COSM2050152 c.1824G>A p.V608V Substitution - coding silent 1:241757366-241757366 + ESCC_BICR_040T COSM5429827 c.2389T>C p.W797R Substitution - Missense 1:241772920-241772920 + T2269 COSM4741036 c.1832G>T p.R611I Substitution - Missense 1:241801142-241801142 + TCGA-CM-5862-01 COSM1340665 c.3091G>A p.V1031I Substitution - Missense 1:241796299-241796299 + CSCC-31-T COSM1690054 c.286G>A p.E96K Substitution - Missense 1:241723398-241723398 + 8070199 COSM4387647 c.2057G>A p.R686Q Substitution - Missense 1:241769409-241769409 + RK230_C01 COSM4779577 c.990G>T p.L330L Substitution - coding silent 1:241757372-241757372 + ICC009T COSM5823455 c.2053T>C p.Y685H Substitution - Missense 1:241769405-241769405 + TCGA-BR-8680-01 COSM4030184 c.2814C>A p.F938L Substitution - Missense 1:241787987-241787987 + TCGA-AP-A056-01 COSM906453 c.933C>T p.L311L Substitution - coding silent 1:241687584-241687584 + CHC1592T COSM4791428 c.503G>C p.G168A Substitution - Missense 1:241679504-241679504 + SWE-34 COSM1179676 c.1631G>A p.R544Q Substitution - Missense 1:241795211-241795211 + MO_1339 COSM5557304 c.1437T>C p.I479I Substitution - coding silent 1:241741661-241741661 + YULAPE COSM1690056 c.928_929GT>AA p.V310K Substitution - Missense 1:241757310-241757311 + RMH004-R4 COSM4411210 c.2585C>T p.S862F Substitution - Missense 1:241783291-241783291 + PD3851a COSM219147 c.1939C>T p.R647* Substitution - Nonsense 1:241766239-241766239 + PCSI_0472_Pa_P_526 COSM5031562 c.3029G>C p.G1010A Substitution - Missense 1:241795268-241795268 + 262LT COSM4383380 c.3197T>C p.V1066A Substitution - Missense 1:241801166-241801166 + 3101B7_041_T COSM5041583 c.3049-2A>T p.? Unknown 1:241796255-241796255 + PT47 COSM5943948 c.1626+8delA p.? Unknown 1:241790704-241790704 + TCGA-29-1785-01 COSM1320318 c.1993G>A p.G665R Substitution - Missense 1:241766293-241766293 + T2269 COSM4741037 c.3173G>T p.R1058I Substitution - Missense 1:241801142-241801142 + TCGA-E7-A3X6-01 COSM3789726 c.2730C>G p.L910L Substitution - coding silent 1:241787903-241787903 + TCGA-85-6560-01 COSM679692 c.1319T>C p.L440S Substitution - Missense 1:241741543-241741543 + C008 COSM5524182 c.1069C>T p.P357S Substitution - Missense 1:241757451-241757451 + 019T COSM1727884 c.313T>C p.S105P Substitution - Missense 1:241723425-241723425 + BCB167T COSM4798884 c.1558C>A p.R520S Substitution - Missense 1:241790628-241790628 + T3658 COSM4741038 c.1839T>C p.S613S Substitution - coding silent 1:241801149-241801149 + PD3890a COSM3664715 c.105-5T>C p.? Unknown 1:241711797-241711797 + TCGA-27-2518-01 COSM2157289 c.3155G>A p.R1052H Substitution - Missense 1:241796363-241796363 + 250LT COSM4383380 c.3197T>C p.V1066A Substitution - Missense 1:241801166-241801166 + TCGA-AA-3713-01 COSM5106014 c.2375G>A p.G792E Substitution - Missense 1:241772906-241772906 + 2492722 COSM906445 c.365G>A p.R122Q Substitution - Missense 1:241671162-241671162 + PT41 COSM4511222 c.20C>T p.S7L Substitution - Missense 1:241687511-241687511 + PD3890a COSM3664716 c.945-5T>C p.? Unknown 1:241711797-241711797 + C008 COSM5524183 c.1909C>T p.P637S Substitution - Missense 1:241757451-241757451 + TCGA-61-1722-01 COSM1320322 c.1352C>G p.P451R Substitution - Missense 1:241741576-241741576 + sysucc-773T COSM5460286 c.1740+2T>G p.? Unknown 1:241749724-241749724 + TCGA-D1-A17Q-01 COSM906493 c.1774G>A p.D592N Substitution - Missense 1:241796323-241796323 + 587284 COSM1232633 c.1678A>T p.I560F Substitution - Missense 1:241795258-241795258 + HCT15 COSM1668619 c.1702C>A p.L568M Substitution - Missense 1:241749684-241749684 + CHC1545T COSM4787677 c.2484G>T p.R828S Substitution - Missense 1:241775188-241775188 + RMH004-R10 COSM4411210 c.2585C>T p.S862F Substitution - Missense 1:241783291-241783291 + Au4 COSM5605350 c.176C>T p.S59L Substitution - Missense 1:241660560-241660560 + TCGA-A8-A08R-01 COSM425761 c.2953C>G p.L985V Substitution - Missense 1:241790682-241790682 + TCGA-BR-8680-01 COSM4030182 c.2600C>A p.S867Y Substitution - Missense 1:241783306-241783306 + TCGA-EJ-5530-01 COSM1127076 c.1316C>G p.S439C Substitution - Missense 1:241783363-241783363 + TCGA-D9-A6EC-06 COSM4403536 c.3223T>G p.F1075V Substitution - Missense 1:241801192-241801192 + PD3851a COSM219146 c.1099C>T p.R367* Substitution - Nonsense 1:241766239-241766239 + GC8_T COSM146841 c.1856T>C p.V619A Substitution - Missense 1:241801166-241801166 + PDA_015 COSM2050194 c.3028G>A p.G1010S Substitution - Missense 1:241795267-241795267 + PT47 COSM5943949 c.2967+8delA p.? Unknown 1:241790704-241790704 + 587222 COSM1232630 c.1433T>C p.V478A Substitution - Missense 1:241787947-241787947 + RMH004-R10 COSM4411209 c.1244C>T p.S415F Substitution - Missense 1:241783291-241783291 + ESCC_BICR_041T COSM5441211 c.1146C>T p.V382V Substitution - coding silent 1:241723418-241723418 + 0058_CRUK_PC_0058_T1_DNA COSM5420612 c.203G>A p.R68Q Substitution - Missense 1:241723315-241723315 + 1N37-VS-1T37 COSM4974988 c.2015T>C p.I672T Substitution - Missense 1:241766315-241766315 + C0053T COSM4165107 c.679G>A p.D227N Substitution - Missense 1:241683571-241683571 + TCGA-EE-A2MJ-06 COSM3486157 c.724G>A p.G242R Substitution - Missense 1:241744516-241744516 + CDGLIV0704A0200_T COSM5041780 c.247A>T p.N83Y Substitution - Missense 1:241660631-241660631 + pfg008T COSM1639771 c.1850_1851insC p.L618fs*>18 Insertion - Frameshift 1:241801160-241801161 + TCGA-C5-A7UH-01 COSM4856868 c.1413C>T p.L471L Substitution - coding silent 1:241741637-241741637 + TCGA-EE-A20F-06 COSM3486168 c.3176G>A p.R1059K Substitution - Missense 1:241801145-241801145 + TCGA-ES-A2HS-01 COSM4910654 c.1068C>A p.T356T Substitution - coding silent 1:241723340-241723340 + RMH004-R8 COSM4411209 c.1244C>T p.S415F Substitution - Missense 1:241783291-241783291 + TCGA-18-3409-01 COSM679685 c.2926G>A p.E976K Substitution - Missense 1:241790655-241790655 + 019T COSM1727885 c.1153T>C p.S385P Substitution - Missense 1:241723425-241723425 + OSCC-GB_00980111 COSM4882115 c.1420T>A p.L474M Substitution - Missense 1:241787934-241787934 + 2492713 COSM5718557 c.773T>G p.L258W Substitution - Missense 1:241749595-241749595 + TCGA-B5-A0JY-01 COSM906450 c.52G>T p.D18Y Substitution - Missense 1:241687543-241687543 + JEKO-1 COSM1738581 c.855G>T p.Q285H Substitution - Missense 1:241749677-241749677 + 8012675 COSM3385958 c.22C>T p.R8C Substitution - Missense 1:241652506-241652506 + TCGA-Q1-A73O-01 COSM4834853 c.1066C>T p.Q356* Substitution - Nonsense 1:241757448-241757448 + LP6005409-DNA_C04 COSM5953562 c.1830G>A p.L610L Substitution - coding silent 1:241757372-241757372 + TCGA-AP-A056-01 COSM906452 c.93C>T p.L31L Substitution - coding silent 1:241687584-241687584 + YUFIT COSM1690054 c.286G>A p.E96K Substitution - Missense 1:241723398-241723398 + CSCC-31-T COSM1690055 c.1126G>A p.E376K Substitution - Missense 1:241723398-241723398 + T2197 COSM4741035 c.3166C>T p.P1056S Substitution - Missense 1:241801135-241801135 + 2324295 COSM4771530 c.1137T>A p.Y379* Substitution - Nonsense 1:241766277-241766277 + TCGA-27-2518-01 COSM2157288 c.1814G>A p.R605H Substitution - Missense 1:241796363-241796363 + 106T COSM1725214 c.814C>T p.R272* Substitution - Nonsense 1:241749636-241749636 + TCGA-66-2787-01 COSM679694 c.1291+2T>C p.? Unknown 1:241738491-241738491 + RMH004-R2 COSM4411209 c.1244C>T p.S415F Substitution - Missense 1:241783291-241783291 + TCGA-AP-A0LM-01 COSM906489 c.1462G>T p.E488* Substitution - Nonsense 1:241787976-241787976 + MO_1339 COSM5557303 c.597T>C p.I199I Substitution - coding silent 1:241741661-241741661 + S02284 COSM5683961 c.365G>T p.R122L Substitution - Missense 1:241671162-241671162 + sysucc-311T COSM5478238 c.2627T>C p.V876A Substitution - Missense 1:241783333-241783333 + TCGA-AP-A051-01 COSM906484 c.2662G>A p.D888N Substitution - Missense 1:241783368-241783368 + BCB167T COSM4798884 c.1558C>A p.R520S Substitution - Missense 1:241790628-241790628 + TCGA-AB-2836-03 COSM906448 c.635_636delTG p.V216fs*5 Deletion - Frameshift 1:241683527-241683528 + TCGA-FW-A3R5-06 COSM3864974 c.3170G>A p.R1057Q Substitution - Missense 1:241801139-241801139 + S02286 COSM5685105 c.619G>A p.G207R Substitution - Missense 1:241744411-241744411 + pfg008T COSM4765531 c.2138_2139insC p.E715fs*1 Insertion - Frameshift 1:241769490-241769491 + CN-AML-CR-58-Dx COSM3486152 c.1171C>T p.R391W Substitution - Missense 1:241738369-241738369 + LUAD-E00918 COSM364947 c.1473C>A p.Y491* Substitution - Nonsense 1:241744425-241744425 + SWE-6 COSM1178104 c.98A>T p.D33V Substitution - Missense 1:241687589-241687589 + BD56T COSM5520368 c.1525G>A p.D509N Substitution - Missense 1:241744477-241744477 + TCGA-B0-5097-01 COSM464234 c.1002G>A p.K334K Substitution - coding silent 1:241711859-241711859 + J87_T COSM3977350 c.1832G>A p.R611K Substitution - Missense 1:241757374-241757374 + SWE-14 COSM1178886 c.222C>A p.I74I Substitution - coding silent 1:241723334-241723334 + TCGA-Q1-A73O-01 COSM4834854 c.1906C>T p.Q636* Substitution - Nonsense 1:241757448-241757448 + ESCC-D3 COSM1340647 c.223C>T p.R75C Substitution - Missense 1:241660607-241660607 + J87_T COSM3977349 c.992G>A p.R331K Substitution - Missense 1:241757374-241757374 + TCGA-BS-A0UF-01 COSM906475 c.950T>G p.V317G Substitution - Missense 1:241757332-241757332 + HCT15 COSM1668618 c.862C>A p.L288M Substitution - Missense 1:241749684-241749684 + YUDIVI COSM5380255 c.2154G>A p.R718R Substitution - coding silent 1:241770621-241770621 + ESCC-F36 COSM5047590 c.934G>C p.E312Q Substitution - Missense 1:241687585-241687585 + CRC-34T COSM5460762 c.2383C>T p.R795C Substitution - Missense 1:241772914-241772914 + CHC1592T COSM4791428 c.503G>C p.G168A Substitution - Missense 1:241679504-241679504 + 2492711 COSM5718558 c.1613T>G p.L538W Substitution - Missense 1:241749595-241749595 + pfg076T COSM4764922 c.2894T>A p.F965Y Substitution - Missense 1:241790623-241790623 + TCGA-61-1737-01 COSM1320319 c.571_581del11 p.T192fs*1 Deletion - Frameshift 1:241741635-241741645 + ccRCC-11 COSM1665000 c.1118T>A p.L373* Substitution - Nonsense 1:241766258-241766258 + TCGA-EE-A3JD-06 COSM4396341 c.1460G>A p.G487E Substitution - Missense 1:241744412-241744412 + HCT8 COSM1668618 c.862C>A p.L288M Substitution - Missense 1:241749684-241749684 + RK119_C01 COSM3741141 c.3119G>A p.G1040D Substitution - Missense 1:241796327-241796327 + RK237_C01 COSM4779810 c.1777G>A p.E593K Substitution - Missense 1:241757319-241757319 + TCGA-27-2518 COSM2157288 c.1814G>A p.R605H Substitution - Missense 1:241796363-241796363 + CSCC-7-T COSM4522795 c.1180G>A p.D394N Substitution - Missense 1:241738378-241738378 + T3724 COSM4741032 c.918C>G p.I306M Substitution - Missense 1:241757300-241757300 + C0100T COSM4165109 c.967C>T p.P323S Substitution - Missense 1:241711824-241711824 + TCGA-EE-A2MR-06 COSM3486163 c.1669G>A p.E557K Substitution - Missense 1:241795249-241795249 + OSCC-GB_00800111 COSM4887830 c.2895C>G p.F965L Substitution - Missense 1:241790624-241790624 + TCGA-D9-A6EC-06 COSM4403535 c.1882T>G p.F628V Substitution - Missense 1:241801192-241801192 + TCGA-EE-A2MJ-06 COSM3486158 c.1564G>A p.G522R Substitution - Missense 1:241744516-241744516 + SS6003317 COSM4127647 c.1224+4A>C p.? Unknown 1:241780066-241780066 + SJTALL003 COSM305961 c.1524C>T p.V508V Substitution - coding silent 1:241744476-241744476 + C086 COSM906452 c.93C>T p.L31L Substitution - coding silent 1:241687584-241687584 + LP6005334-DNA_G03 COSM1340663 c.2591G>A p.R864H Substitution - Missense 1:241783297-241783297 + 1N37-VS-1T37 COSM4974987 c.1165+10T>C p.? Unknown 1:241766315-241766315 + BD87T COSM5505512 c.483+8C>T p.? Unknown 1:241674755-241674755 + HCT-15 COSM1668619 c.1702C>A p.L568M Substitution - Missense 1:241749684-241749684 + TCGA-AB-2936-03 COSM1317557 c.1698G>C p.L566L Substitution - coding silent 1:241749680-241749680 + TCGA-AG-3742-01 COSM1560742 c.3090C>T p.G1030G Substitution - coding silent 1:241796298-241796298 + RMS106_ COSM4986720 c.2747C>G p.T916R Substitution - Missense 1:241787920-241787920 + BCB167T COSM4798885 c.2899C>A p.R967S Substitution - Missense 1:241790628-241790628 + HT115 COSM2050201 c.1764G>T p.K588N Substitution - Missense 1:241796313-241796313 + TCGA-CD-5800-01 COSM4030186 c.3078T>A p.L1026L Substitution - coding silent 1:241796286-241796286 + CSCC-31-T COSM4485842 c.2981C>T p.P994L Substitution - Missense 1:241795220-241795220 + TCGA-D7-8572-01 COSM4030179 c.783G>A p.G261G Substitution - coding silent 1:241749605-241749605 + TCGA-BS-A0UV-01 COSM906469 c.1330A>C p.I444L Substitution - Missense 1:241741554-241741554 + YUFIT COSM1690055 c.1126G>A p.E376K Substitution - Missense 1:241723398-241723398 + 587376 COSM1232635 c.1630C>T p.R544* Substitution - Nonsense 1:241795210-241795210 + 8066485 COSM1560746 c.1042C>T p.R348W Substitution - Missense 1:241723314-241723314 + TCGA-63-6202-01 COSM679683 c.3212T>A p.L1071Q Substitution - Missense 1:241801181-241801181 + YUKLAB COSM1690054 c.286G>A p.E96K Substitution - Missense 1:241723398-241723398 + YUHAMA COSM5380252 c.318C>T p.S106S Substitution - coding silent 1:241671115-241671115 + TCGA-D9-A6EC-06 COSM4401549 c.1495T>G p.F499V Substitution - Missense 1:241744447-241744447 + TCGA-KK-A5A1-01 COSM4392004 c.1657C>T p.R553C Substitution - Missense 1:241749639-241749639 + pfg008T COSM1639772 c.3191_3192insC p.L1065fs*>18 Insertion - Frameshift 1:241801160-241801161 + TCGA-BS-A0UJ-01 COSM906486 c.2722C>T p.R908* Substitution - Nonsense 1:241787895-241787895 + S01524 COSM5669263 c.1104G>C p.V368V Substitution - coding silent 1:241766244-241766244 + pfg008T COSM1639771 c.1850_1851insC p.L618fs*>18 Insertion - Frameshift 1:241801160-241801161 + TCGA-CG-4465-01 COSM4030173 c.480G>A p.L160L Substitution - coding silent 1:241741544-241741544 + SC_9037 COSM5547877 c.483+8delC p.? Unknown 1:241674755-241674755 + TCGA-FD-A3SS-01 COSM3789727 c.1503G>A p.L501L Substitution - coding silent 1:241788017-241788017 + TCGA-AM-5820-01 COSM3751038 c.1100G>A p.R367Q Substitution - Missense 1:241766240-241766240 + OSCC-GB_00980111 COSM4882116 c.2761T>A p.L921M Substitution - Missense 1:241787934-241787934 + 66 COSM5742832 c.413T>C p.V138A Substitution - Missense 1:241674677-241674677 + CHC1052T COSM1626935 c.1432A>G p.I478V Substitution - Missense 1:241741656-241741656 + TCGA-12-0656 COSM1340663 c.2591G>A p.R864H Substitution - Missense 1:241783297-241783297 + 2324295 COSM4771531 c.1977T>A p.Y659* Substitution - Nonsense 1:241766277-241766277 + 71 COSM5744431 c.2056C>T p.R686* Substitution - Nonsense 1:241769408-241769408 + LUAD_E00623 COSM354123 c.1070C>A p.P357H Substitution - Missense 1:241757452-241757452 + TCGA-AG-3885-01 COSM1560746 c.1042C>T p.R348W Substitution - Missense 1:241723314-241723314 + TCGA-KK-A5A1-01 COSM4392003 c.817C>T p.R273C Substitution - Missense 1:241749639-241749639 + TCGA-CG-4465-01 COSM4030174 c.1320G>A p.L440L Substitution - coding silent 1:241741544-241741544 + LUAD-RT-S01866 COSM385091 c.1122A>T p.L374L Substitution - coding silent 1:241766262-241766262 + HCT8 COSM1668619 c.1702C>A p.L568M Substitution - Missense 1:241749684-241749684 + PT48 COSM5930792 c.692G>A p.G231E Substitution - Missense 1:241683584-241683584 + T1154 COSM2050206 c.3184delA p.N1064fs*2 Deletion - Frameshift 1:241801153-241801153 + 12-P412 COSM4577065 c.1462G>C p.E488Q Substitution - Missense 1:241787976-241787976 + TCGA-CI-6624-01 COSM1560744 c.1983G>C p.L661F Substitution - Missense 1:241766283-241766283 + TCGA-BG-A0MQ-01 COSM906449 c.716G>T p.R239I Substitution - Missense 1:241683608-241683608 + ESCC_BICR_041T COSM5441210 c.306C>T p.V102V Substitution - coding silent 1:241723418-241723418 + TCGA-BS-A0UJ-01 COSM906446 c.487A>G p.T163A Substitution - Missense 1:241679488-241679488 + PD24205a COSM5787248 c.371T>C p.L124S Substitution - Missense 1:241671168-241671168 + PT48 COSM5930794 c.279C>T p.I93I Substitution - coding silent 1:241671076-241671076 + 2492721 COSM906445 c.365G>A p.R122Q Substitution - Missense 1:241671162-241671162 + GC_313T-GC_313N COSM4774365 c.2497G>A p.G833R Substitution - Missense 1:241775201-241775201 + TCGA-27-2518 COSM2157289 c.3155G>A p.R1052H Substitution - Missense 1:241796363-241796363 + Pat_53_B COSM2050193 c.1687G>A p.G563S Substitution - Missense 1:241795267-241795267 + 12-P412 COSM4577066 c.2803G>C p.E935Q Substitution - Missense 1:241787976-241787976 + ESCC-F51 COSM5047943 c.577G>A p.A193T Substitution - Missense 1:241679578-241679578 + DN14067 COSM906445 c.365G>A p.R122Q Substitution - Missense 1:241671162-241671162 + P03-595 COSM248331 c.1514G>A p.R505Q Substitution - Missense 1:241788028-241788028 + T2197 COSM4741034 c.1825C>T p.P609S Substitution - Missense 1:241801135-241801135 + 8066485 COSM1560745 c.202C>T p.R68W Substitution - Missense 1:241723314-241723314 + SWE-34 COSM1179677 c.2972G>A p.R991Q Substitution - Missense 1:241795211-241795211 + SJTALL003 COSM305961 c.1524C>T p.V508V Substitution - coding silent 1:241744476-241744476 + TCGA-AP-A056-01 COSM906470 c.867C>A p.A289A Substitution - coding silent 1:241749689-241749689 + 250LT COSM146841 c.1856T>C p.V619A Substitution - Missense 1:241801166-241801166 + PD7220a COSM5769072 c.2716G>A p.G906R Substitution - Missense 1:241787889-241787889 + TCGA-CD-5800-01 COSM4030185 c.1737T>A p.L579L Substitution - coding silent 1:241796286-241796286 + AOCS-106-1-1 COSM3943756 c.503G>T p.G168V Substitution - Missense 1:241679504-241679504 + C086 COSM5541723 c.798G>A p.K266K Substitution - coding silent 1:241683690-241683690 + RK042_C COSM1626935 c.1432A>G p.I478V Substitution - Missense 1:241741656-241741656 + TCGA-FW-A3R5-06 COSM3864972 c.2874G>A p.M958I Substitution - Missense 1:241790603-241790603 + S02286 COSM5685106 c.1459G>A p.G487R Substitution - Missense 1:241744411-241744411 + RK042_C01 COSM1626934 c.592A>G p.I198V Substitution - Missense 1:241741656-241741656 + PD6731a2 COSM5795196 c.15G>A p.K5K Substitution - coding silent 1:241652499-241652499 + 587222 COSM1232631 c.2774T>C p.V925A Substitution - Missense 1:241787947-241787947 + 24T COSM107909 c.339G>A p.W113* Substitution - Nonsense 1:241738377-241738377 + TCGA-F5-6812-01 COSM1560748 c.321G>A p.Q107Q Substitution - coding silent 1:241671118-241671118 + PD3851a COSM219146 c.1099C>T p.R367* Substitution - Nonsense 1:241766239-241766239 + CSCC-62-T COSM4479747 c.2353C>T p.L785F Substitution - Missense 1:241772884-241772884 + RK119_C01 COSM3741140 c.1778G>A p.G593D Substitution - Missense 1:241796327-241796327 + PD22364a COSM5777521 c.1419C>T p.I473I Substitution - coding silent 1:241741643-241741643 + 0058_CRUK_PC_0058_T1_DNA COSM5420613 c.1043G>A p.R348Q Substitution - Missense 1:241723315-241723315 + T1154 COSM2050205 c.1843delA p.N617fs*2 Deletion - Frameshift 1:241801153-241801153 + CSCC-31-T COSM4486482 c.1718C>T p.P573L Substitution - Missense 1:241796267-241796267 + TCGA-EJ-5530-01 COSM1127077 c.2657C>G p.S886C Substitution - Missense 1:241783363-241783363 + 587376 COSM1232636 c.2971C>T p.R991* Substitution - Nonsense 1:241795210-241795210 + PD4953a COSM5771578 c.1165-5T>C p.? Unknown 1:241738358-241738358 + TCGA-61-1737-01 COSM1320320 c.1411_1421del11 p.T472fs*1 Deletion - Frameshift 1:241741635-241741645 + TCGA-EE-A20F-06 COSM3486167 c.1835G>A p.R612K Substitution - Missense 1:241801145-241801145 + SK-MEL-2 COSM1668615 c.941A>G p.N314S Substitution - Missense 1:241687592-241687592 + TCGA-D1-A167-01 COSM906458 c.122C>T p.S41F Substitution - Missense 1:241711819-241711819 + LUAD_E00623 COSM354124 c.1910C>A p.P637H Substitution - Missense 1:241757452-241757452 + KYSE110 COSM5049384 c.946G>T p.D316Y Substitution - Missense 1:241757328-241757328 + RK042_C01 COSM1626935 c.1432A>G p.I478V Substitution - Missense 1:241741656-241741656 + 587222 COSM1232629 c.1369G>T p.E457* Substitution - Nonsense 1:241741593-241741593 + BRC18 COSM5025550 c.265G>A p.D89N Substitution - Missense 1:241660649-241660649 + TCGA-D8-A1J8-01 COSM5222913 c.3130_3132delAAG p.K1046delK Deletion - In frame 1:241796338-241796340 + CHC1545T COSM4787677 c.2484G>T p.R828S Substitution - Missense 1:241775188-241775188 + C086 COSM5541721 c.1639C>T p.P547S Substitution - Missense 1:241795219-241795219 + 3N64-VS-3T64 COSM4984641 c.2120T>C p.I707T Substitution - Missense 1:241769472-241769472 + TCGA-D9-A6EC-06 COSM4401548 c.655T>G p.F219V Substitution - Missense 1:241744447-241744447 + TCGA-AG-A002-01 COSM289817 c.3183_3184insA p.N1064fs*>19 Insertion - Frameshift 1:241801152-241801153 + 526LT COSM4383380 c.3197T>C p.V1066A Substitution - Missense 1:241801166-241801166 + TCGA-EE-A2GO-06 COSM3486151 c.331C>T p.R111W Substitution - Missense 1:241738369-241738369 + TCGA-06-5858-01 COSM1340663 c.2591G>A p.R864H Substitution - Missense 1:241783297-241783297 + SS6003317 COSM4127648 c.2565+4A>C p.? Unknown 1:241780066-241780066 + CHC703T COSM4957428 c.2769T>A p.C923* Substitution - Nonsense 1:241787942-241787942 + TCGA-D7-A4YX-01 COSM1340664 c.1750G>A p.V584I Substitution - Missense 1:241796299-241796299 + TCGA-AP-A051-01 COSM906483 c.1321G>A p.D441N Substitution - Missense 1:241783368-241783368 + TCGA-B5-A0JY-01 COSM906479 c.1019C>T p.A340V Substitution - Missense 1:241757401-241757401 + LOVO COSM2050151 c.984G>A p.V328V Substitution - coding silent 1:241757366-241757366 + SWE-14 COSM1178887 c.1062C>A p.I354I Substitution - coding silent 1:241723334-241723334 + 587284 COSM1232634 c.3019A>T p.I1007F Substitution - Missense 1:241795258-241795258 + 106T COSM1725215 c.1654C>T p.R552* Substitution - Nonsense 1:241749636-241749636 + PT27 COSM5520367 c.685G>A p.D229N Substitution - Missense 1:241744477-241744477 + PD3851a COSM219147 c.1939C>T p.R647* Substitution - Nonsense 1:241766239-241766239 + TCGA-E6-A1LZ-01 COSM906448 c.635_636delTG p.V216fs*5 Deletion - Frameshift 1:241683527-241683528 + HCC51 COSM1602000 c.1107C>T p.I369I Substitution - coding silent 1:241723379-241723379 + TCGA-FD-A3SS-01 COSM3789728 c.2844G>A p.L948L Substitution - coding silent 1:241788017-241788017 + PDA_015 COSM2050193 c.1687G>A p.G563S Substitution - Missense 1:241795267-241795267 + TCGA-BT-A0YX-01 COSM414547 c.3173G>C p.R1058T Substitution - Missense 1:241801142-241801142 + 2_PRE-TREATMENT COSM1722949 c.1453G>A p.E485K Substitution - Missense 1:241744405-241744405 + P03-595 COSM248332 c.2855G>A p.R952Q Substitution - Missense 1:241788028-241788028 + TCGA-B5-A0JY-01 COSM906451 c.892G>T p.D298Y Substitution - Missense 1:241687543-241687543 + TCGA-D5-6928-01 COSM1340647 c.223C>T p.R75C Substitution - Missense 1:241660607-241660607 + TCGA-D7-8572-01 COSM4030180 c.1623G>A p.G541G Substitution - coding silent 1:241749605-241749605 + TCGA-ES-A2HS-01 COSM4910653 c.228C>A p.T76T Substitution - coding silent 1:241723340-241723340 + ESCC-F36 COSM5047589 c.94G>C p.E32Q Substitution - Missense 1:241687585-241687585 + CN-AML-CR-58-Dx COSM3486151 c.331C>T p.R111W Substitution - Missense 1:241738369-241738369 + T3658 COSM4741039 c.3180T>C p.S1060S Substitution - coding silent 1:241801149-241801149 + LUAD-E00934 COSM393446 c.2632G>T p.E878* Substitution - Nonsense 1:241783338-241783338 + sysucc-1370T COSM2050109 c.304G>A p.V102I Substitution - Missense 1:241723416-241723416 + 587316 COSM1232627 c.3083T>C p.L1028P Substitution - Missense 1:241796291-241796291 + BCB167T COSM4798885 c.2899C>A p.R967S Substitution - Missense 1:241790628-241790628 + TCGA-AA-3510-01 COSM1340648 c.224G>A p.R75H Substitution - Missense 1:241660608-241660608 + TCGA-EE-A29N-06 COSM3486162 c.1622G>A p.G541E Substitution - Missense 1:241749604-241749604 + TCGA-D8-A1J8-01 COSM5222912 c.1789_1791delAAG p.K599delK Deletion - In frame 1:241796338-241796340 + RK261_C01 COSM4778380 c.2067T>A p.D689E Substitution - Missense 1:241769419-241769419 + TCGA-B5-A11O-01 COSM906478 c.1858G>T p.A620S Substitution - Missense 1:241757400-241757400 + TCGA-AG-A002-01 COSM289816 c.1842_1843insA p.N617fs*>19 Insertion - Frameshift 1:241801152-241801153 + sysucc-311T COSM5478237 c.1286T>C p.V429A Substitution - Missense 1:241783333-241783333 + TCGA-CA-6717-01 COSM1340650 c.597A>C p.E199D Substitution - Missense 1:241683489-241683489 + LUAD-RT-S01866 COSM385092 c.1962A>T p.L654L Substitution - coding silent 1:241766262-241766262 + TCGA-A8-A08R-01 COSM425760 c.1612C>G p.L538V Substitution - Missense 1:241790682-241790682 + 2492712 COSM5718558 c.1613T>G p.L538W Substitution - Missense 1:241749595-241749595 + RK042_C COSM1626934 c.592A>G p.I198V Substitution - Missense 1:241741656-241741656 + C135 COSM4617367 c.319G>A p.A107T Substitution - Missense 1:241723431-241723431 + PT37 COSM1232630 c.1433T>C p.V478A Substitution - Missense 1:241787947-241787947 + 3N08-VS-3T08 COSM4978977 c.1404G>C p.Q468H Substitution - Missense 1:241787918-241787918 + PD4261a COSM5771434 c.24T>C p.R8R Substitution - coding silent 1:241652508-241652508 + JEKO-1 COSM1738582 c.1695G>T p.Q565H Substitution - Missense 1:241749677-241749677 + LP6005334-DNA_E03 COSM5032737 c.392G>A p.R131Q Substitution - Missense 1:241674656-241674656 + TCGA-D1-A167-01 COSM906459 c.962C>T p.S321F Substitution - Missense 1:241711819-241711819 + YULAPE COSM1690057 c.1768_1769GT>AA p.V590K Substitution - Missense 1:241757310-241757311 + PCSI_0472_Pa_P_526 COSM5031561 c.1688G>C p.G563A Substitution - Missense 1:241795268-241795268 + TCGA-B0-5097-01 COSM464233 c.162G>A p.K54K Substitution - coding silent 1:241711859-241711859 + 8012199 COSM218399 c.2135G>A p.R712H Substitution - Missense 1:241769487-241769487 + TCGA-AG-A020-01 COSM906448 c.635_636delTG p.V216fs*5 Deletion - Frameshift 1:241683527-241683528 + ESCC_34 COSM5628383 c.763A>T p.K255* Substitution - Nonsense 1:241683655-241683655 + CSCC-41-T COSM4483976 c.1416C>T p.F472F Substitution - coding silent 1:241787930-241787930 + LUAD-S01302 COSM395841 c.252_253GG>TA p.T84>? Complex 1:241660636-241660637 + TCGA-AK-3436-01 COSM1645665 c.2260G>T p.G754C Substitution - Missense 1:241771697-241771697 + C086 COSM5541722 c.2980C>T p.P994S Substitution - Missense 1:241795219-241795219 + CSCC-7-T COSM4522794 c.340G>A p.D114N Substitution - Missense 1:241738378-241738378 + SJBALL020939_D1 COSM219146 c.1099C>T p.R367* Substitution - Nonsense 1:241766239-241766239 + 2_PRE-TREATMENT COSM1722948 c.613G>A p.E205K Substitution - Missense 1:241744405-241744405 + YUSWI COSM1690058 c.1208C>T p.P403L Substitution - Missense 1:241780046-241780046 + PDA_031 COSM4999504 c.1138C>A p.H380N Substitution - Missense 1:241723410-241723410 + TCGA-B5-A0JY-01 COSM906445 c.365G>A p.R122Q Substitution - Missense 1:241671162-241671162 + RMH004-R4 COSM4411209 c.1244C>T p.S415F Substitution - Missense 1:241783291-241783291 + TCGA-EI-6917-01 COSM533647 c.2994C>T p.F998F Substitution - coding silent 1:241795233-241795233 + TCGA-BS-A0UJ-01 COSM906485 c.1381C>T p.R461* Substitution - Nonsense 1:241787895-241787895 + ESCC_152 COSM5645326 c.1024+1G>T p.? Unknown 1:241711882-241711882 + TCGA-FU-A40J-01 COSM4844052 c.111C>G p.V37V Substitution - coding silent 1:241711808-241711808 + TCGA-BS-A0UV-01 COSM906473 c.1726A>G p.I576V Substitution - Missense 1:241749708-241749708 + HCC51T COSM1602000 c.1107C>T p.I369I Substitution - coding silent 1:241723379-241723379 + 2492714 COSM5718558 c.1613T>G p.L538W Substitution - Missense 1:241749595-241749595 + TCGA-EI-6917-01 COSM533646 c.1653C>T p.F551F Substitution - coding silent 1:241795233-241795233 + TCGA-BS-A0UF-01 COSM906476 c.1790T>G p.V597G Substitution - Missense 1:241757332-241757332 + MCF7 COSM1668617 c.1093C>T p.H365Y Substitution - Missense 1:241723365-241723365 + pfg020T COSM1639770 c.1360C>T p.H454Y Substitution - Missense 1:241741584-241741584 + HCC140T COSM5823191 c.2316T>A p.P772P Substitution - coding silent 1:241772847-241772847 + TCGA-AM-5820-01 COSM3751039 c.1940G>A p.R647Q Substitution - Missense 1:241766240-241766240 + TCGA-D3-A51G-06 COSM3486154 c.1367G>A p.R456Q Substitution - Missense 1:241741591-241741591 + J36_T COSM3977351 c.2083C>A p.P695T Substitution - Missense 1:241769435-241769435 + TCGA-BP-5198-01 COSM464236 c.1047G>T p.L349F Substitution - Missense 1:241723319-241723319 + C135 COSM4617368 c.1159G>A p.A387T Substitution - Missense 1:241723431-241723431 + TCGA-AP-A0LM-01 COSM906490 c.2803G>T p.E935* Substitution - Nonsense 1:241787976-241787976 + C086 COSM906453 c.933C>T p.L311L Substitution - coding silent 1:241687584-241687584 + CSCC-41-T COSM4483977 c.2757C>T p.F919F Substitution - coding silent 1:241787930-241787930 + TCGA-29-1785-01 COSM1320317 c.1153G>A p.G385R Substitution - Missense 1:241766293-241766293 + MCF7 COSM1668616 c.253C>T p.H85Y Substitution - Missense 1:241723365-241723365 + CSCC-44-T COSM4486271 c.1689C>T p.G563G Substitution - coding silent 1:241795269-241795269 + 2492723 COSM906445 c.365G>A p.R122Q Substitution - Missense 1:241671162-241671162 + TCGA-EE-A3JD-06 COSM4397451 c.3224T>C p.F1075S Substitution - Missense 1:241801193-241801193 + 3N08-VS-3T08 COSM4978978 c.2745G>C p.Q915H Substitution - Missense 1:241787918-241787918 + SJTALL003 COSM305960 c.684C>T p.V228V Substitution - coding silent 1:241744476-241744476 + TCGA-AP-A0LM-01 COSM906444 c.199G>T p.D67Y Substitution - Missense 1:241660583-241660583 + 2_RESISTANT COSM1722948 c.613G>A p.E205K Substitution - Missense 1:241744405-241744405 + pfg076T COSM4764921 c.1553T>A p.F518Y Substitution - Missense 1:241790623-241790623 + TCGA-AX-A05Z-01 COSM906492 c.2932G>A p.D978N Substitution - Missense 1:241790661-241790661 + HCT-15 COSM1668618 c.862C>A p.L288M Substitution - Missense 1:241749684-241749684 + TCGA-B5-A0JY-01 COSM906480 c.1859C>T p.A620V Substitution - Missense 1:241757401-241757401 + TCGA-BP-5198-01 COSM464235 c.207G>T p.L69F Substitution - Missense 1:241723319-241723319 + 526LT COSM146841 c.1856T>C p.V619A Substitution - Missense 1:241801166-241801166 + 0062_CRUK_PC_0062_T1_DNA COSM5421711 c.2006G>A p.G669D Substitution - Missense 1:241766306-241766306 + CPCG0268-F1 COSM4881045 c.1049T>C p.V350A Substitution - Missense 1:241757431-241757431 + TCGA-CA-6717-01 COSM1340649 c.345C>T p.F115F Substitution - coding silent 1:241671142-241671142 + CSCC-44-T COSM4486272 c.3030C>T p.G1010G Substitution - coding silent 1:241795269-241795269 + TCGA-EE-A2GO-06 COSM3486152 c.1171C>T p.R391W Substitution - Missense 1:241738369-241738369 + S02401 COSM5700003 c.1165+2T>C p.? Unknown 1:241766307-241766307 + CSCC-60-T COSM4540970 c.2920G>A p.E974K Substitution - Missense 1:241790649-241790649 + S02237 COSM5676378 c.3006C>T p.N1002N Substitution - coding silent 1:241795245-241795245 + TCGA-EE-A29M-06 COSM3486150 c.1080G>A p.G360G Substitution - coding silent 1:241723352-241723352 + OSCC-GB_00800111 COSM4887829 c.1554C>G p.F518L Substitution - Missense 1:241790624-241790624 + LUAD-FH5PJ COSM403933 c.687C>G p.L229L Substitution - coding silent 1:241683579-241683579 + TCGA-66-2795-01 COSM679699 c.1154C>A p.S385Y Substitution - Missense 1:241723426-241723426 + TCGA-F5-6814-01 COSM3418978 c.1200C>T p.F400F Substitution - coding silent 1:241780038-241780038 + GC_357T-GC_357N COSM906448 c.635_636delTG p.V216fs*5 Deletion - Frameshift 1:241683527-241683528 + HT115 COSM906487 c.1411G>T p.D471Y Substitution - Missense 1:241787925-241787925 + TCGA-AX-A0J0-01 COSM906447 c.530G>A p.R177Q Substitution - Missense 1:241679531-241679531 + CSCC-31-T COSM4487748 c.1884C>T p.F628F Substitution - coding silent 1:241801194-241801194 + SJTALL003 COSM305960 c.684C>T p.V228V Substitution - coding silent 1:241744476-241744476 + RK237_C01 COSM4779809 c.937G>A p.E313K Substitution - Missense 1:241757319-241757319 + 2492713 COSM5718558 c.1613T>G p.L538W Substitution - Missense 1:241749595-241749595 + S01524 COSM5669264 c.1944G>C p.V648V Substitution - coding silent 1:241766244-241766244 + TCGA-AG-A026-01 COSM290553 c.1596G>C p.G532G Substitution - coding silent 1:241749578-241749578 + pfg008T COSM1639772 c.3191_3192insC p.L1065fs*>18 Insertion - Frameshift 1:241801160-241801161 + 2521252 COSM5888640 c.1165G>A p.E389K Substitution - Missense 1:241766305-241766305 + PTC-7C COSM4143577 c.1621G>T p.G541W Substitution - Missense 1:241749603-241749603 + PT14_1 COSM5896592 c.2180C>A p.S727Y Substitution - Missense 1:241770647-241770647 + cSCCP6 COSM136225 c.1259C>T p.S420F Substitution - Missense 1:241783306-241783306 + TCGA-AZ-4315-01 COSM1340661 c.2589G>A p.W863* Substitution - Nonsense 1:241783295-241783295 + TCGA-EE-A3J7-06 COSM3864969 c.1082C>T p.P361L Substitution - Missense 1:241766222-241766222 + TCGA-CK-5913-01 COSM1340663 c.2591G>A p.R864H Substitution - Missense 1:241783297-241783297 + TCGA-A8-A08R-01 COSM425758 c.802G>T p.E268* Substitution - Nonsense 1:241749624-241749624 + TCGA-CM-5862-01 COSM1340664 c.1750G>A p.V584I Substitution - Missense 1:241796299-241796299 + PT41 COSM4511223 c.860C>T p.S287L Substitution - Missense 1:241687511-241687511 + LUAD-S01357 COSM386246 c.716C>A p.A239E Substitution - Missense 1:241744508-241744508 + CSCC-31-T COSM4485841 c.1640C>T p.P547L Substitution - Missense 1:241795220-241795220 + 1604875 COSM140978 c.292G>T p.D98Y Substitution - Missense 1:241723404-241723404 + BD246T COSM5496046 c.2368G>T p.E790* Substitution - Nonsense 1:241772899-241772899 + TCGA-AP-A056-01 COSM906471 c.1707C>A p.A569A Substitution - coding silent 1:241749689-241749689 + sysucc-773T COSM5460285 c.900+2T>G p.? Unknown 1:241749724-241749724 + TCGA-C5-A7UH-01 COSM4856867 c.573C>T p.L191L Substitution - coding silent 1:241741637-241741637 + BD56T COSM5520367 c.685G>A p.D229N Substitution - Missense 1:241744477-241744477 + TCGA-AR-A24Q-01 COSM1473691 c.1801G>T p.G601C Substitution - Missense 1:241796350-241796350 + TCGA-EE-A3AA-06 COSM3486166 c.3127G>A p.G1043R Substitution - Missense 1:241796335-241796335 + PD7220a COSM5769071 c.1375G>A p.G459R Substitution - Missense 1:241787889-241787889 + PD3890a COSM3664715 c.105-5T>C p.? Unknown 1:241711797-241711797 + TCGA-D1-A103-01 COSM906487 c.1411G>T p.D471Y Substitution - Missense 1:241787925-241787925 + HT115 COSM906488 c.2752G>T p.D918Y Substitution - Missense 1:241787925-241787925 + 029T COSM1728192 c.581A>C p.Q194P Substitution - Missense 1:241679582-241679582 + WM3211 COSM3727106 c.1973G>A p.G658E Substitution - Missense 1:241766273-241766273 + RK230_C01 COSM4779578 c.1830G>T p.L610L Substitution - coding silent 1:241757372-241757372 + HT115 COSM2050202 c.3105G>T p.K1035N Substitution - Missense 1:241796313-241796313 + SM-4B296 COSM4410383 c.1703T>C p.L568P Substitution - Missense 1:241749685-241749685 + TCGA-F5-6814-01 COSM3418977 c.834C>T p.D278D Substitution - coding silent 1:241687485-241687485 + BD184T COSM5517588 c.2138C>A p.T713N Substitution - Missense 1:241769490-241769490 + ccRCC-11 COSM1665001 c.1958T>A p.L653* Substitution - Nonsense 1:241766258-241766258 + TCGA-AZ-4315-01 COSM1340660 c.1248G>A p.W416* Substitution - Nonsense 1:241783295-241783295 + TCGA-D8-A1J9-01 COSM1473689 c.306C>G p.V102V Substitution - coding silent 1:241723418-241723418 + TCGA-EE-A3JD-06 COSM4397450 c.1883T>C p.F628S Substitution - Missense 1:241801193-241801193 + TCGA-60-2726-01 COSM679690 c.1694A>T p.Q565L Substitution - Missense 1:241749676-241749676 + CSCC-27-T COSM4506461 c.720C>T p.F240F Substitution - coding silent 1:241683612-241683612 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.97527 1q43

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E455D c.1365A>C 1 241904891 LUAD A C Missense p.M419L c.1255A>C 1 241901755 LUSC A C Missense p.N464H c.1390A>C 1 241904916 LUAD A G Missense p.I429V c.1285A>G 1 241901785 LUAD A G Missense p.I478V c.1432A>G 1 241904958 HC A G Missense p.N464S c.1391A>G 1 241904917 CM A G Missense p.R4G c.10A>G 1 241815796 LUAD A G Synonymous p.L645L c.1935A>G 1 241929537 LUSC A T Missense p.Q565L c.1694A>T 1 241912978 LUSC C A Missense p.P1067Q c.3200C>A 1 241964471 UCEC C A Missense p.R1052S c.3154C>A 1 241959664 LUAD C A Missense p.S385Y c.1154C>A 1 241886728 LUSC - C Frameshift p.V1066Sfs*67 c.3192_3193insC 1 241964463 STAD C G IntronicSNV . c.483+743C>G 1 241838792 CLL C G Missense p.L462V c.1384C>G 1 241904910 LUAD C G Missense p.L963V c.2887C>G 1 241953918 HNSC C G Missense p.L985V c.2953C>G 1 241953984 BRCA C G Missense p.S886C c.2657C>G 1 241946665 PRAD C G Synonymous p.V382V c.1146C>G 1 241886720 BRCA C T IntronicSNV . c.1565-524C>T 1 241912325 PIA C T Missense p.H454Y c.1360C>T 1 241904886 STAD C T Missense p.H895Y c.2683C>T 1 241951158 BRCA C T Missense p.P641L c.1922C>T 1 241929524 CM C T Missense p.R391W c.1171C>T 1 241901671 CM C T Missense p.R553C c.1657C>T 1 241912941 PRAD C T Missense p.S287L c.860C>T 1 241850813 HNSC C T Synonymous p.I887I c.2661C>T 1 241946669 UCEC C T Synonymous p.L588L c.1764C>T 1 241920608 BRCA G A Missense p.D89N c.265G>A 1 241823951 BRCA G A Missense p.E583K c.1747G>A 1 241920591 CM G A Missense p.G1043R c.3127G>A 1 241959637 CM G A Missense p.G487E c.1460G>A 1 241907714 CM G A Missense p.G541E c.1622G>A 1 241912906 CM G A Missense p.R1052H c.3155G>A 1 241959665 GBM G A Missense p.R1059K c.3176G>A 1 241964447 CM G A Missense p.R391Q c.1172G>A 1 241901672 BRCA G A Missense p.R712H c.2135G>A 1 241932789 PAAD G A Missense p.R864H c.2591G>A 1 241946599 BRCA G A Missense p.V317I c.949G>A 1 241875108 UCEC G A Synonymous p.G360G c.1080G>A 1 241886654 CM G A Synonymous p.K334K c.1002G>A 1 241875161 RCCC G A Synonymous p.L440L c.1320G>A 1 241904846 STAD G C Missense p.D72H c.214G>C 1 241823900 BRCA G C Missense p.R1058T c.3173G>C 1 241964444 BLCA G C Missense p.R442T c.1325G>C 1 241904851 LUAD G C Missense p.R992T c.2975G>C 1 241958516 HNSC G C Synonymous p.G532G c.1596G>C 1 241912880 COREAD G C Synonymous p.L566L c.1698G>C 1 241912982 AML GG AA SpliceAcceptorBlockSubstitution . c.1441-1_1441delinsAA 1 241907694 CM G T Missense p.G1048C c.3142G>T 1 241959652 BRCA G T Missense p.L349F c.1047G>T 1 241886621 RCCC G T Missense p.M578I c.1734G>T 1 241913018 LUAD G T Missense p.R239I c.716G>T 1 241846910 UCEC G T Nonsense p.E548* c.1642G>T 1 241912926 BRCA G T SpliceAcceptorSNV . c.2261-1G>T 1 241936093 BRCA G T Synonymous p.P539P c.1617G>T 1 241912901 STAD T A Missense p.L1071Q c.3212T>A 1 241964483 LUSC T A Missense p.V876E c.2627T>A 1 241946635 LUAD T C Missense p.F1075S c.3224T>C 1 241964495 CM T C Missense p.I662T c.1985T>C 1 241929587 LUAD T C Missense p.L440S c.1319T>C 1 241904845 LUSC T C SpliceDonorSNV . c.1291+2T>C 1 241901793 LUSC T C Synonymous p.Y520Y c.1560T>C 1 241907814 STAD TG - Frameshift p.V216Gfs*5 c.647_648delTG 1 241846829 UCEC T G IntronicSNV . c.1292-831T>G 1 241903987 CLL