| Gene ID | 7010 |
| Symbol | TEK |
| Synonymous | CD202B|TIE-2|TIE2|VMCM|VMCM1 |
| Full name | TEK tyrosine kinase, endothelial |
| Gene description | angiopoietin-1 receptor|endothelial tyrosine kinase|tunica interna endothelial cell kinase|tyrosine kinase with Ig and EGF homology domains-2|tyrosine-protein kinase receptor TEK|tyrosine-protein kinase receptor TIE-2 |
| Cytoband | 9p21 |
| Gene type | protein-coding |
| Synonymous | MIM:600221; HGNC:HGNC:11724; Ensembl:ENSG00000120156; HPRD:02571; Vega:OTTHUMG00000019712 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2456T>C; p.L819P; 9:27206673-27206673 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1564C>T; p.R522C; 9:27192563-27192563 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2639G>T; p.G880V; 9:27209184-27209184 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1972T>G; p.S658A; 9:27202882-27202882 |
skin | malignant_melanoma | Substitution - Missense |
c.1534G>T; p.E512*; 9:27192533-27192533 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.255A>T; p.K85N; 9:27158033-27158033 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.1534G>T; p.E512*; 9:27192533-27192533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3242A>C; p.E1081A; 9:27228247-27228247 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3354T>C; p.C1118C; 9:27229211-27229211 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2064G>A; p.K688K; 9:27202974-27202974 |
skin | malignant_melanoma | Substitution - coding silent |
c.3104G>A; p.G1035E; 9:27220049-27220049 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1561C>G; p.R521G; 9:27192560-27192560 |
skin | malignant_melanoma | Substitution - Missense |
c.2224G>A; p.G742R; 9:27204925-27204925 |
stomach | adenocarcinoma | Substitution - Missense |
c.2166C>G; p.N722K; 9:27203076-27203076 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1408T>C; p.Y470H; 9:27190609-27190609 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2456T>G; p.L819R; 9:27206673-27206673 |
liver | carcinoma | Substitution - Missense |
c.2456T>G; p.L819R; 9:27206673-27206673 |
liver | carcinoma | Substitution - Missense |
c.2178T>C; p.S726S; 9:27203088-27203088 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.475+4A>G; p.?; 9:27168609-27168609 |
pancreas | carcinoma | Unknown |
c.1245delC; p.P417fs*10; 9:27185547-27185547 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1625-1G>T; p.?; 9:27197314-27197314 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.92C>T; p.S31F; 9:27157870-27157870 |
skin | malignant_melanoma | Substitution - Missense |
c.92C>T; p.S31F; 9:27157870-27157870 |
skin | malignant_melanoma | Substitution - Missense |
c.356G>A; p.R119H; 9:27158134-27158134 |
liver | carcinoma | Substitution - Missense |
c.2365-1G>C; p.?; 9:27206581-27206581 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.356G>A; p.R119H; 9:27158134-27158134 |
liver | carcinoma | Substitution - Missense |
c.230A>G; p.D77G; 9:27158008-27158008 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1968G>A; p.V656V; 9:27202878-27202878 |
skin | malignant_melanoma | Substitution - coding silent |
c.2337G>A; p.R779R; 9:27205038-27205038 |
skin | malignant_melanoma | Substitution - coding silent |
c.2236A>G; p.M746V; 9:27204937-27204937 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2282C>T; p.T761I; 9:27204983-27204983 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1357G>A; p.V453M; 9:27190558-27190558 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2351C>T; p.A784V; 9:27205052-27205052 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2936A>C; p.K979T; 9:27213542-27213542 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.231T>C; p.D77D; 9:27158009-27158009 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.662A>G; p.N221S; 9:27172649-27172649 |
skin | malignant_melanoma | Substitution - Missense |
c.628+1G>A; p.?; 9:27169630-27169630 |
skin | malignant_melanoma | Unknown |
c.487C>T; p.H163Y; 9:27169488-27169488 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.250delA; p.V86fs*31; 9:27158028-27158028 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.974G>T; p.R325L; 9:27180312-27180312 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.3008G>A; p.R1003H; 9:27217704-27217704 |
pancreas | carcinoma | Substitution - Missense |
c.1517A>T; p.Y506F; 9:27192516-27192516 |
skin | malignant_melanoma | Substitution - Missense |
c.973C>A; p.R325S; 9:27180311-27180311 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.726C>T; p.C242C; 9:27172713-27172713 |
skin | malignant_melanoma | Substitution - coding silent |
c.2479C>T; p.Q827*; 9:27206696-27206696 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1210T>G; p.F404V; 9:27185512-27185512 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3040G>T; p.V1014L; 9:27217736-27217736 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.149G>A; p.R50H; 9:27157927-27157927 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1866delG; p.E624fs*33; 9:27197556-27197556 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.149G>A; p.R50H; 9:27157927-27157927 |
thyroid | carcinoma | Substitution - Missense |
c.2059G>T; p.V687L; 9:27202969-27202969 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3123G>A; p.G1041G; 9:27220068-27220068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3123G>A; p.G1041G; 9:27220068-27220068 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1915C>T; p.P639S; 9:27202825-27202825 |
skin | malignant_melanoma | Substitution - Missense |
c.1702C>G; p.P568A; 9:27197392-27197392 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1841G>A; p.R614Q; 9:27197531-27197531 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1915C>T; p.P639S; 9:27202825-27202825 |
skin | malignant_melanoma | Substitution - Missense |
c.2230G>A; p.G744R; 9:27204931-27204931 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.325G>T; p.E109*; 9:27158103-27158103 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1962A>G; p.S654S; 9:27202872-27202872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1521_1522GG>AA; p.E508K; 9:27192520-27192521 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2976T>C; p.Y992Y; 9:27213582-27213582 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1568G>C; p.G523A; 9:27192567-27192567 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.588A>T; p.G196G; 9:27169589-27169589 |
skin | malignant_melanoma | Substitution - coding silent |
c.2460C>T; p.D820D; 9:27206677-27206677 |
skin | malignant_melanoma | Substitution - coding silent |
c.84G>A; p.L28L; 9:27157862-27157862 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3016G>A; p.A1006T; 9:27217712-27217712 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.350A>G; p.K117R; 9:27158128-27158128 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1385T>C; p.V462A; 9:27190586-27190586 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.350A>G; p.K117R; 9:27158128-27158128 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3252A>G; p.S1084S; 9:27228257-27228257 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1575_1576insG; p.E527fs*28; 9:27192574-27192575 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.475+4A>T; p.?; 9:27168609-27168609 |
liver | carcinoma | Unknown |
c.664C>T; p.H222Y; 9:27172651-27172651 |
skin | malignant_melanoma | Substitution - Missense |
c.133A>G; p.I45V; 9:27157911-27157911 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1561C>T; p.R521C; 9:27192560-27192560 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3007C>T; p.R1003C; 9:27217703-27217703 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.743G>A; p.G248E; 9:27172730-27172730 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3007C>T; p.R1003C; 9:27217703-27217703 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.226C>A; p.Q76K; 9:27158004-27158004 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.600C>T; p.T200T; 9:27169601-27169601 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1545C>T; p.L515L; 9:27192544-27192544 |
pancreas | carcinoma | Substitution - coding silent |
c.1796C>T; p.S599L; 9:27197486-27197486 |
skin | malignant_melanoma | Substitution - Missense |
c.1254C>A; p.D418E; 9:27185556-27185556 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2600G>A; p.R867K; 9:27209145-27209145 |
breast | carcinoma | Substitution - Missense |
c.2482G>A; p.D828N; 9:27206699-27206699 |
skin | malignant_melanoma | Substitution - Missense |
c.2301G>A; p.L767L; 9:27205002-27205002 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1540G>T; p.E514*; 9:27192539-27192539 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1603C>T; p.R535C; 9:27192602-27192602 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.584G>A; p.G195E; 9:27169585-27169585 |
skin | malignant_melanoma | Substitution - Missense |
c.505G>A; p.E169K; 9:27169506-27169506 |
skin | malignant_melanoma | Substitution - Missense |
c.505G>A; p.E169K; 9:27169506-27169506 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1843G>A; p.A615T; 9:27197533-27197533 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.25C>T; p.L9F; 9:27109615-27109615 |
breast | carcinoma | Substitution - Missense |
c.479C>T; p.S160F; 9:27169480-27169480 |
skin | malignant_melanoma | Substitution - Missense |
c.479C>T; p.S160F; 9:27169480-27169480 |
skin | malignant_melanoma | Substitution - Missense |
c.2743C>T; p.R915C; 9:27212763-27212763 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1903A>G; p.S635G; 9:27197593-27197593 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.479C>T; p.S160F; 9:27169480-27169480 |
skin | malignant_melanoma | Substitution - Missense |
c.2743C>T; p.R915C; 9:27212763-27212763 |
skin | malignant_melanoma | Substitution - Missense |
c.2642A>G; p.H881R; 9:27209187-27209187 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1490T>A; p.V497E; 9:27192489-27192489 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3319C>T; p.L1107F; 9:27229176-27229176 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3090G>A; p.E1030E; 9:27218804-27218804 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1415G>A; p.G472E; 9:27190616-27190616 |
skin | malignant_melanoma | Substitution - Missense |
c.1421G>A; p.G474E; 9:27190622-27190622 |
skin | malignant_melanoma | Substitution - Missense |
c.2592T>C; p.D864D; 9:27209137-27209137 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.303C>A; p.F101L; 9:27158081-27158081 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.134T>C; p.I45T; 9:27157912-27157912 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1247C>T; p.P416L; 9:27185549-27185549 |
skin | malignant_melanoma | Substitution - Missense |
c.303C>A; p.F101L; 9:27158081-27158081 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1592G>A; p.G531E; 9:27192591-27192591 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.3261G>A; p.Q1087Q; 9:27228266-27228266 |
breast | carcinoma | Substitution - coding silent |
c.3344G>A; p.G1115E; 9:27229201-27229201 |
skin | malignant_melanoma | Substitution - Missense |
c.913G>T; p.G305C; 9:27180251-27180251 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2545C>T; p.R849W; 9:27206762-27206762 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1997C>G; p.S666C; 9:27202907-27202907 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.8C>T; p.S3F; 9:27109598-27109598 |
skin | malignant_melanoma | Substitution - Missense |
c.2524C>T; p.R842C; 9:27206741-27206741 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.333C>T; p.I111I; 9:27158111-27158111 |
skin | malignant_melanoma | Substitution - coding silent |
c.2418G>C; p.K806N; 9:27206635-27206635 |
skin | malignant_melanoma | Substitution - Missense |
c.2524C>T; p.R842C; 9:27206741-27206741 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.168C>A; p.T56T; 9:27157946-27157946 |
breast | carcinoma | Substitution - coding silent |
c.1134T>C; p.P378P; 9:27183562-27183562 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3048A>T; p.T1016T; 9:27217744-27217744 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3048A>T; p.T1016T; 9:27217744-27217744 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3371C>T; p.A1124V; 9:27229228-27229228 |
kidney | carcinoma | Substitution - Missense |
c.3371C>T; p.A1124V; 9:27229228-27229228 |
kidney | carcinoma | Substitution - Missense |
c.1472C>T; p.A491V; 9:27190673-27190673 |
breast | carcinoma | Substitution - Missense |
c.864C>T; p.S288S; 9:27173325-27173325 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1845T>C; p.A615A; 9:27197535-27197535 |
breast | carcinoma | Substitution - coding silent |
c.2280G>T; p.L760L; 9:27204981-27204981 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.2280G>T; p.L760L; 9:27204981-27204981 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.351G>C; p.K117N; 9:27158129-27158129 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.351G>C; p.K117N; 9:27158129-27158129 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.351G>C; p.K117N; 9:27158129-27158129 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.648G>C; p.W216C; 9:27172635-27172635 |
skin | malignant_melanoma | Substitution - Missense |
c.1382C>T; p.A461V; 9:27190583-27190583 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2267G>A; p.G756E; 9:27204968-27204968 |
skin | malignant_melanoma | Substitution - Missense |
c.2422A>G; p.K808E; 9:27206639-27206639 |
skin | malignant_melanoma | Substitution - Missense |
c.66T>G; p.G22G; 9:27157844-27157844 |
breast | carcinoma | Substitution - coding silent |
c.3178C>T; p.P1060S; 9:27220123-27220123 |
ovary | other; neoplasm | Substitution - Missense |
c.231T>A; p.D77E; 9:27158009-27158009 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.231T>A; p.D77E; 9:27158009-27158009 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2168C>A; p.P723Q; 9:27203078-27203078 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2647C>G; p.P883A; 9:27209192-27209192 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2647C>G; p.P883A; 9:27209192-27209192 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.616C>A; p.L206M; 9:27169617-27169617 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.616C>A; p.L206M; 9:27169617-27169617 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.616C>A; p.L206M; 9:27169617-27169617 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.616C>A; p.L206M; 9:27169617-27169617 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1522G>A; p.E508K; 9:27192521-27192521 |
skin | malignant_melanoma | Substitution - Missense |
c.1522G>A; p.E508K; 9:27192521-27192521 |
skin | malignant_melanoma | Substitution - Missense |
c.549C>T; p.P183P; 9:27169550-27169550 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1041G>A; p.R347R; 9:27183469-27183469 |
skin | malignant_melanoma | Substitution - coding silent |
c.2018G>A; p.R673H; 9:27202928-27202928 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.173G>A; p.G58E; 9:27157951-27157951 |
skin | malignant_melanoma | Substitution - Missense |
c.409G>A; p.D137N; 9:27168539-27168539 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1212C>G; p.F404L; 9:27185514-27185514 |
pancreas | carcinoma | Substitution - Missense |
c.1153C>A; p.L385M; 9:27183581-27183581 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3370G>A; p.A1124T; 9:27229227-27229227 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.587G>A; p.G196E; 9:27169588-27169588 |
skin | malignant_melanoma | Substitution - Missense |
c.587G>A; p.G196E; 9:27169588-27169588 |
skin | malignant_melanoma | Substitution - Missense |
c.2198C>A; p.P733Q; 9:27203108-27203108 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2619G>T; p.L873L; 9:27209164-27209164 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1973C>A; p.S658Y; 9:27202883-27202883 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3332T>G; p.F1111C; 9:27229189-27229189 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1929A>C; p.E643D; 9:27202839-27202839 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3332T>G; p.F1111C; 9:27229189-27229189 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2869_2870insA; p.Q959fs*16; 9:27212889-27212890 |
liver | carcinoma | Insertion - Frameshift |
c.2798C>T; p.A933V; 9:27212818-27212818 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1629C>T; p.L543L; 9:27197319-27197319 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1813T>A; p.L605I; 9:27197503-27197503 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2463G>A; p.W821*; 9:27206680-27206680 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1209T>A; p.H403Q; 9:27185511-27185511 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.395C>A; p.T132N; 9:27168525-27168525 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1340C>T; p.P447L; 9:27190541-27190541 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3231G>A; p.E1077E; 9:27228236-27228236 |
skin | malignant_melanoma | Substitution - coding silent |
c.3317C>T; p.T1106M; 9:27229174-27229174 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3317C>T; p.T1106M; 9:27229174-27229174 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2441C>A; p.T814K; 9:27206658-27206658 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2279T>C; p.L760P; 9:27204980-27204980 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2279T>C; p.L760P; 9:27204980-27204980 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2765C>T; p.T922M; 9:27212785-27212785 |
skin | malignant_melanoma | Substitution - Missense |
c.3035A>G; p.Y1012C; 9:27217731-27217731 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2947T>A; p.F983I; 9:27213553-27213553 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.355C>T; p.R119C; 9:27158133-27158133 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.514G>A; p.D172N; 9:27169515-27169515 |
skin | malignant_melanoma | Substitution - Missense |
c.349A>G; p.K117E; 9:27158127-27158127 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2842G>A; p.V948M; 9:27212862-27212862 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>A; p.C242Y; 9:27172712-27172712 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.952A>G; p.N318D; 9:27180290-27180290 |
liver | carcinoma | Substitution - Missense |
c.319C>T; p.R107*; 9:27158097-27158097 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.319C>T; p.R107*; 9:27158097-27158097 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1624G>A; p.G542R; 9:27192623-27192623 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.319C>T; p.R107*; 9:27158097-27158097 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1642G>A; p.G548S; 9:27197332-27197332 |
skin | malignant_melanoma | Substitution - Missense |
c.1938G>T; p.K646N; 9:27202848-27202848 |
breast | carcinoma | Substitution - Missense |
c.650G>T; p.G217V; 9:27172637-27172637 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1417G>A; p.D473N; 9:27190618-27190618 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.602C>A; p.S201*; 9:27169603-27169603 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3047C>T; p.T1016I; 9:27217743-27217743 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2846C>A; p.A949D; 9:27212866-27212866 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1220C>T; p.A407V; 9:27185522-27185522 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2371G>T; p.E791*; 9:27206588-27206588 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.7T>C; p.S3P; 9:27109597-27109597 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1643G>C; p.G548A; 9:27197333-27197333 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2169A>G; p.P723P; 9:27203079-27203079 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1751delA; p.S586fs*12; 9:27197441-27197441 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2179C>G; p.H727D; 9:27203089-27203089 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3226C>T; p.R1076W; 9:27228231-27228231 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1631C>A; p.P544H; 9:27197321-27197321 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1179C>G; p.L393L; 9:27183607-27183607 |
breast | carcinoma | Substitution - coding silent |
c.182T>G; p.F61C; 9:27157960-27157960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.608T>A; p.F203Y; 9:27169609-27169609 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2143G>A; p.E715K; 9:27203053-27203053 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3349G>C; p.D1117H; 9:27229206-27229206 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1900C>T; p.L634F; 9:27197590-27197590 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2061G>A; p.V687V; 9:27202971-27202971 |
skin | malignant_melanoma | Substitution - coding silent |
c.1900C>T; p.L634F; 9:27197590-27197590 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1588C>G; p.P530A; 9:27192587-27192587 |
thyroid | carcinoma | Substitution - Missense |
c.1935C>A; p.I645I; 9:27202845-27202845 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.3271T>C; p.S1091P; 9:27228276-27228276 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3271T>C; p.S1091P; 9:27228276-27228276 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1987G>A; p.D663N; 9:27202897-27202897 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2167C>A; p.P723T; 9:27203077-27203077 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3136G>T; p.E1046*; 9:27220081-27220081 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.734G>A; p.G245E; 9:27172721-27172721 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2067A>G; p.I689M; 9:27202977-27202977 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2614G>T; p.E872*; 9:27209159-27209159 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.607T>C; p.F203L; 9:27169608-27169608 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.874G>A; p.G292S; 9:27173335-27173335 |
skin | malignant_melanoma | Substitution - Missense |
c.607T>C; p.F203L; 9:27169608-27169608 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3251C>T; p.S1084L; 9:27228256-27228256 |
skin | malignant_melanoma | Substitution - Missense |
c.2658C>G; p.I886M; 9:27209203-27209203 |
breast | carcinoma | Substitution - Missense |
c.3281G>T; p.R1094I; 9:27228286-27228286 |
skin | malignant_melanoma | Substitution - Missense |
c.87C>T; p.I29I; 9:27157865-27157865 |
skin | malignant_melanoma | Substitution - coding silent |
c.2243_2244TT>CC; p.L748P; 9:27204944-27204945 |
skin | malignant_melanoma | Substitution - Missense |
c.2641C>T; p.H881Y; 9:27209186-27209186 |
breast | carcinoma | Substitution - Missense |
c.2968G>A; p.E990K; 9:27213574-27213574 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Missense |
c.3307G>A; p.V1103M; 9:27229164-27229164 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1457T>G; p.V486G; 9:27190658-27190658 |
skin | malignant_melanoma | Substitution - Missense |
c.2278C>A; p.L760M; 9:27204979-27204979 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1709C>T; p.S570L; 9:27197399-27197399 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.971A>T; p.D324V; 9:27180309-27180309 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.441G>C; p.L147F; 9:27168571-27168571 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.570G>A; p.S190S; 9:27169571-27169571 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2145G>A; p.E715E; 9:27203055-27203055 |
skin | malignant_melanoma | Substitution - coding silent |
c.429C>T; p.F143F; 9:27168559-27168559 |
skin | malignant_melanoma | Substitution - coding silent |
c.3315C>T; p.T1105T; 9:27229172-27229172 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2383C>T; p.Q795*; 9:27206600-27206600 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.326A>T; p.E109V; 9:27158104-27158104 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2217G>A; p.A739A; 9:27204918-27204918 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.425C>G; p.S142C; 9:27168555-27168555 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1901T>C; p.L634P; 9:27197591-27197591 |
breast | carcinoma | Substitution - Missense |
c.941G>C; p.R314T; 9:27180279-27180279 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.749C>T; p.T250M; 9:27172736-27172736 |
central_nervous_system; brain | glioma | Substitution - Missense |