| Gene ID | 8826 |
| Symbol | IQGAP1 |
| Synonymous | HUMORFA01|SAR1|p195 |
| Full name | IQ motif containing GTPase activating protein 1 |
| Gene description | RasGAP-like with IQ motifs|ras GTPase-activating-like protein IQGAP1 |
| Cytoband | 15q26.1 |
| Gene type | protein-coding |
| Synonymous | MIM:603379; HGNC:HGNC:6110; Ensembl:ENSG00000140575; HPRD:04541; Vega:OTTHUMG00000149832 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1168G>A; p.A390T; 15:90452780-90452780 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4752-2A>G; p.?; 15:90497230-90497230 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.281_284delAAAT; p.K94fs*22; 15:90426235-90426238 |
breast | carcinoma | Deletion - Frameshift |
c.1029C>T; p.S343S; 15:90448688-90448688 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3837T>G; p.F1279L; 15:90484268-90484268 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3837T>G; p.F1279L; 15:90484268-90484268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.727C>T; p.P243S; 15:90441583-90441583 |
skin | malignant_melanoma | Substitution - Missense |
c.1357G>T; p.A453S; 15:90453162-90453162 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2710C>A; p.Q904K; 15:90474619-90474619 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2244G>C; p.L748L; 15:90472905-90472905 |
breast | carcinoma | Substitution - coding silent |
c.659C>T; p.A220V; 15:90441515-90441515 |
skin | malignant_melanoma | Substitution - Missense |
c.2710C>A; p.Q904K; 15:90474619-90474619 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4456G>A; p.A1486T; 15:90491540-90491540 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1674G>A; p.L558L; 15:90456213-90456213 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2861A>G; p.Q954R; 15:90476739-90476739 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2861A>G; p.Q954R; 15:90476739-90476739 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4052C>A; p.P1351Q; 15:90486981-90486981 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.698C>T; p.P233L; 15:90441554-90441554 |
skin | malignant_melanoma | Substitution - Missense |
c.1705G>T; p.E569*; 15:90456244-90456244 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3111G>A; p.K1037K; 15:90477671-90477671 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2164C>A; p.R722R; 15:90467578-90467578 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - coding silent |
c.3513G>A; p.L1171L; 15:90482239-90482239 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3581G>A; p.R1194Q; 15:90483386-90483386 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3987C>T; p.D1329D; 15:90486095-90486095 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4110C>T; p.D1370D; 15:90487039-90487039 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4661A>G; p.K1554R; 15:90494745-90494745 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2497C>T; p.R833W; 15:90473959-90473959 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2539C>T; p.R847W; 15:90474097-90474097 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.4249-6C>G; p.?; 15:90491327-90491327 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.4649A>G; p.E1550G; 15:90494733-90494733 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3108G>A; p.S1036S; 15:90477668-90477668 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.993A>G; p.P331P; 15:90448652-90448652 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.993A>G; p.P331P; 15:90448652-90448652 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.847G>C; p.E283Q; 15:90443412-90443412 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3038C>A; p.A1013E; 15:90477164-90477164 |
pancreas | carcinoma | Substitution - Missense |
c.4648G>A; p.E1550K; 15:90494732-90494732 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4930A>C; p.N1644H; 15:90500064-90500064 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1760_1761delAG; p.K590fs*7; 15:90456299-90456300 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3436C>A; p.L1146I; 15:90482066-90482066 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3217G>T; p.A1073S; 15:90477777-90477777 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3146C>A; p.P1049H; 15:90477706-90477706 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.365C>T; p.A122V; 15:90429641-90429641 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2494T>G; p.F832V; 15:90473956-90473956 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4288C>T; p.R1430C; 15:90491372-90491372 |
skin | malignant_melanoma | Substitution - Missense |
c.4683G>T; p.L1561L; 15:90494767-90494767 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4249G>A; p.E1417K; 15:90491333-90491333 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3038C>T; p.A1013V; 15:90477164-90477164 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.4307A>C; p.D1436A; 15:90491391-90491391 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.315G>A; p.A105A; 15:90429591-90429591 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3200C>T; p.A1067V; 15:90477760-90477760 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2844G>A; p.M948I; 15:90476722-90476722 |
breast | carcinoma | Substitution - Missense |
c.429G>T; p.K143N; 15:90433757-90433757 |
prostate | carcinoma | Substitution - Missense |
c.3102C>G; p.I1034M; 15:90477228-90477228 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3124C>G; p.Q1042E; 15:90477684-90477684 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3218C>A; p.A1073D; 15:90477778-90477778 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.956G>C; p.G319A; 15:90448615-90448615 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2712G>T; p.Q904H; 15:90474621-90474621 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3440C>T; p.S1147L; 15:90482070-90482070 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4629-2_4629-1delAG; p.?; 15:90494711-90494712 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1242C>T; p.P414P; 15:90452854-90452854 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2297G>A; p.R766Q; 15:90472958-90472958 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1243G>A; p.E415K; 15:90452855-90452855 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1243G>A; p.E415K; 15:90452855-90452855 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4839G>T; p.E1613D; 15:90497319-90497319 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1243G>A; p.E415K; 15:90452855-90452855 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3757G>A; p.E1253K; 15:90483562-90483562 |
breast | carcinoma | Substitution - Missense |
c.645C>T; p.A215A; 15:90440611-90440611 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1944C>A; p.S648S; 15:90466345-90466345 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2584G>C; p.E862Q; 15:90474493-90474493 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4735G>A; p.D1579N; 15:90494819-90494819 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.657T>A; p.A219A; 15:90441513-90441513 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3455C>T; p.S1152F; 15:90482085-90482085 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3261C>T; p.I1087I; 15:90477821-90477821 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2022A>C; p.K674N; 15:90466423-90466423 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2540G>A; p.R847Q; 15:90474098-90474098 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2567A>T; p.K856M; 15:90474125-90474125 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1313G>A; p.R438Q; 15:90452925-90452925 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2410T>C; p.S804P; 15:90473775-90473775 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1313G>A; p.R438Q; 15:90452925-90452925 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2410T>C; p.S804P; 15:90473775-90473775 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2410T>C; p.S804P; 15:90473775-90473775 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3817C>G; p.P1273A; 15:90484248-90484248 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2206T>C; p.Y736H; 15:90472867-90472867 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2206T>C; p.Y736H; 15:90472867-90472867 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1782C>T; p.I594I; 15:90466006-90466006 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3932A>G; p.D1311G; 15:90486040-90486040 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3932A>G; p.D1311G; 15:90486040-90486040 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3091C>G; p.Q1031E; 15:90477217-90477217 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2350-1G>A; p.?; 15:90473714-90473714 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.2347C>G; p.Q783E; 15:90473008-90473008 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1939C>T; p.R647C; 15:90466340-90466340 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3767C>T; p.S1256F; 15:90483572-90483572 |
skin | malignant_melanoma | Substitution - Missense |
c.440G>T; p.R147I; 15:90433768-90433768 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2844G>T; p.M948I; 15:90476722-90476722 |
breast | carcinoma | Substitution - Missense |
c.1487+1G>T; p.?; 15:90453293-90453293 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.3145C>A; p.P1049T; 15:90477705-90477705 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4582delA; p.S1529fs*10; 15:90492665-90492665 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3363G>A; p.A1121A; 15:90481993-90481993 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2892G>C; p.E964D; 15:90476770-90476770 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.275T>C; p.L92P; 15:90426229-90426229 |
stomach | adenocarcinoma | Substitution - Missense |
c.2862G>T; p.Q954H; 15:90476740-90476740 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1898C>T; p.A633V; 15:90466299-90466299 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2408G>A; p.R803H; 15:90473773-90473773 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2408G>A; p.R803H; 15:90473773-90473773 |
liver | carcinoma | Substitution - Missense |
c.2408G>A; p.R803H; 15:90473773-90473773 |
liver | carcinoma | Substitution - Missense |
c.1006C>G; p.R336G; 15:90448665-90448665 |
breast | carcinoma | Substitution - Missense |
c.1929G>A; p.L643L; 15:90466330-90466330 |
breast | carcinoma | Substitution - coding silent |
c.4107C>T; p.F1369F; 15:90487036-90487036 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4107C>T; p.F1369F; 15:90487036-90487036 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4480A>T; p.R1494W; 15:90492563-90492563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2428G>T; p.V810L; 15:90473793-90473793 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.389A>C; p.K130T; 15:90429665-90429665 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1079G>A; p.S360N; 15:90449560-90449560 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1746G>A; p.T582T; 15:90456285-90456285 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.701C>T; p.A234V; 15:90441557-90441557 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4491G>A; p.Q1497Q; 15:90492574-90492574 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3179G>T; p.R1060L; 15:90477739-90477739 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.319G>A; p.G107S; 15:90429595-90429595 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1806G>C; p.W602C; 15:90466030-90466030 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2558A>G; p.D853G; 15:90474116-90474116 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.580A>T; p.I194F; 15:90440546-90440546 |
NS | malignant_melanoma | Substitution - Missense |
c.3415C>T; p.R1139W; 15:90482045-90482045 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3170G>A; p.S1057N; 15:90477730-90477730 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3415C>T; p.R1139W; 15:90482045-90482045 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4619G>T; p.S1540I; 15:90492702-90492702 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3337C>T; p.P1113S; 15:90481967-90481967 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.2255T>A; p.L752Q; 15:90472916-90472916 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2125G>T; p.E709*; 15:90467539-90467539 |
endometrium | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.4435C>T; p.Q1479*; 15:90491519-90491519 |
skin | malignant_melanoma | Substitution - Nonsense |
c.4741C>A; p.Q1581K; 15:90494825-90494825 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3750C>A; p.I1250I; 15:90483555-90483555 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3129G>C; p.E1043D; 15:90477689-90477689 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2284C>T; p.R762*; 15:90472945-90472945 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2850_2851GA>TT; p.M950_I951>IL; 15:90476728-90476729 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Complex - compound substitution |
c.936C>T; p.I312I; 15:90448595-90448595 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1583T>G; p.V528G; 15:90454523-90454523 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817G>T; p.A273S; 15:90441673-90441673 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3145C>T; p.P1049S; 15:90477705-90477705 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.809T>C; p.M270T; 15:90441665-90441665 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4268C>T; p.A1423V; 15:90491352-90491352 |
skin | malignant_melanoma | Substitution - Missense |
c.3145C>T; p.P1049S; 15:90477705-90477705 |
skin | malignant_melanoma | Substitution - Missense |
c.74G>T; p.R25I; 15:90390792-90390792 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.670A>G; p.I224V; 15:90441526-90441526 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3897T>A; p.I1299I; 15:90484328-90484328 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2736C>T; p.L912L; 15:90474645-90474645 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.2851A>T; p.I951L; 15:90476729-90476729 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2736C>T; p.L912L; 15:90474645-90474645 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.4048G>T; p.D1350Y; 15:90486977-90486977 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1278C>G; p.A426A; 15:90452890-90452890 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.3792_3793insT; p.Q1267fs*5; 15:90484223-90484224 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1132G>T; p.A378S; 15:90449613-90449613 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.206A>G; p.E69G; 15:90426160-90426160 |
prostate | carcinoma | Substitution - Missense |
c.3798C>G; p.F1266L; 15:90484229-90484229 |
breast | carcinoma | Substitution - Missense |
c.813A>C; p.T271T; 15:90441669-90441669 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2734C>T; p.L912F; 15:90474643-90474643 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4165A>G; p.K1389E; 15:90487499-90487499 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.452G>T; p.C151F; 15:90433780-90433780 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4003C>T; p.P1335S; 15:90486111-90486111 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4046A>G; p.N1349S; 15:90486975-90486975 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2810T>G; p.L937R; 15:90476688-90476688 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2810T>G; p.L937R; 15:90476688-90476688 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3906C>T; p.I1302I; 15:90484337-90484337 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3112G>A; p.V1038I; 15:90477672-90477672 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2173A>G; p.I725V; 15:90467587-90467587 |
liver | carcinoma | Substitution - Missense |
c.2382A>T; p.A794A; 15:90473747-90473747 |
liver | carcinoma | Substitution - coding silent |
c.1824T>A; p.G608G; 15:90466048-90466048 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1824T>A; p.G608G; 15:90466048-90466048 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2577C>T; p.I859I; 15:90474486-90474486 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2577C>T; p.I859I; 15:90474486-90474486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.4640A>G; p.K1547R; 15:90494724-90494724 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.736A>G; p.M246V; 15:90441592-90441592 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.702C>T; p.A234A; 15:90441558-90441558 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.4531G>A; p.A1511T; 15:90492614-90492614 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3495A>C; p.K1165N; 15:90482221-90482221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.793G>A; p.A265T; 15:90441649-90441649 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4525A>G; p.T1509A; 15:90492608-90492608 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2447C>T; p.A816V; 15:90473909-90473909 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2080_2082delTAT; p.Y694delY; 15:90467494-90467496 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.381A>G; p.G127G; 15:90429657-90429657 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3631C>A; p.L1211M; 15:90483436-90483436 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3021C>T; p.F1007F; 15:90477147-90477147 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2815delA; p.N941fs*8; 15:90476693-90476693 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2815delA; p.N941fs*8; 15:90476693-90476693 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2815delA; p.N941fs*8; 15:90476693-90476693 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1296G>T; p.E432D; 15:90452908-90452908 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2815delA; p.N941fs*8; 15:90476693-90476693 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2815delA; p.N941fs*8; 15:90476693-90476693 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.153G>T; p.K51N; 15:90390871-90390871 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3315G>C; p.Q1105H; 15:90477875-90477875 |
breast | carcinoma | Substitution - Missense |
c.2201_2210del10; p.A735fs*11; 15:90472862-90472871 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.2237A>G; p.E746G; 15:90472898-90472898 |
ovary | other; neoplasm | Substitution - Missense |
c.3470C>T; p.P1157L; 15:90482100-90482100 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.467+2T>C; p.?; 15:90433797-90433797 |
liver | carcinoma | Unknown |
c.2442C>T; p.S814S; 15:90473904-90473904 |
skin | malignant_melanoma | Substitution - coding silent |
c.2442C>T; p.S814S; 15:90473904-90473904 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.38C>T; p.A13V; 15:90388379-90388379 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.414T>C; p.D138D; 15:90433742-90433742 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.38C>T; p.A13V; 15:90388379-90388379 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1972C>T; p.P658S; 15:90466373-90466373 |
skin | malignant_melanoma | Substitution - Missense |
c.2795C>T; p.S932F; 15:90476673-90476673 |
breast | carcinoma | Substitution - Missense |
c.2264G>A; p.R755H; 15:90472925-90472925 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1284C>G; p.L428L; 15:90452896-90452896 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.423T>G; p.D141E; 15:90433751-90433751 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4526C>T; p.T1509I; 15:90492609-90492609 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.288T>A; p.Y96*; 15:90426242-90426242 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Nonsense |
c.1919G>T; p.G640V; 15:90466320-90466320 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2420A>G; p.D807G; 15:90473785-90473785 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4858C>T; p.Q1620*; 15:90497338-90497338 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.662T>C; p.V221A; 15:90441518-90441518 |
skin | malignant_melanoma | Substitution - Missense |
c.252C>T; p.F84F; 15:90426206-90426206 |
liver | carcinoma | Substitution - coding silent |
c.252C>T; p.F84F; 15:90426206-90426206 |
liver | carcinoma | Substitution - coding silent |
c.2017A>C; p.K673Q; 15:90466418-90466418 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4842T>G; p.T1614T; 15:90497322-90497322 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1539T>C; p.N513N; 15:90454479-90454479 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2300C>T; p.S767F; 15:90472961-90472961 |
skin | malignant_melanoma | Substitution - Missense |
c.1147C>A; p.Q383K; 15:90449628-90449628 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.2360G>C; p.R787T; 15:90473725-90473725 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.295G>C; p.E99Q; 15:90426249-90426249 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1446A>G; p.S482S; 15:90453251-90453251 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4709delA; p.G1572fs*11; 15:90494793-90494793 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2527C>T; p.Q843*; 15:90474085-90474085 |
skin | malignant_melanoma | Substitution - Nonsense |
c.585G>C; p.Q195H; 15:90440551-90440551 |
ovary | other; neoplasm | Substitution - Missense |
c.2329C>T; p.P777S; 15:90472990-90472990 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3790C>T; p.R1264W; 15:90484221-90484221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3790C>T; p.R1264W; 15:90484221-90484221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3880G>A; p.V1294I; 15:90484311-90484311 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2244G>T; p.L748L; 15:90472905-90472905 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1540G>T; p.E514*; 15:90454480-90454480 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4273C>T; p.Q1425*; 15:90491357-90491357 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.2130T>C; p.P710P; 15:90467544-90467544 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.4646G>A; p.R1549K; 15:90494730-90494730 |
skin | malignant_melanoma | Substitution - Missense |
c.308A>G; p.Y103C; 15:90426262-90426262 |
pancreas | NS | Substitution - Missense |
c.4402G>T; p.E1468*; 15:90491486-90491486 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2663A>G; p.D888G; 15:90474572-90474572 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1276G>A; p.A426T; 15:90452888-90452888 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4168C>T; p.R1390C; 15:90487502-90487502 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.30G>A; p.L10L; 15:90388371-90388371 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1276G>A; p.A426T; 15:90452888-90452888 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2701C>T; p.R901C; 15:90474610-90474610 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.3469C>T; p.P1157S; 15:90482099-90482099 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3638C>T; p.A1213V; 15:90483443-90483443 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1839C>T; p.S613S; 15:90466063-90466063 |
skin | malignant_melanoma | Substitution - coding silent |
c.1288C>G; p.Q430E; 15:90452900-90452900 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1713C>T; p.V571V; 15:90456252-90456252 |
skin | malignant_melanoma | Substitution - coding silent |
c.93G>T; p.M31I; 15:90390811-90390811 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3121A>C; p.I1041L; 15:90477681-90477681 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |