General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 2048 |
Name | EPHB2 |
Synonymous | EPH receptor B2;EPHB2;EPH receptor B2 |
Definition | EPH-like kinase 5|developmentally-regulated Eph-related tyrosine kinase|elk-related tyrosine kinase|eph tyrosine kinase 3|ephrin type-B receptor 2|protein-tyrosine kinase HEK5|renal carcinoma antigen NY-REN-47|tyrosine-protein kinase TYRO5|tyrosine-protei |
Position | 1p36.1-p35 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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The ratio of the loss-of-function mutations over missense mutations is 0.03. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.1882G>A; p.G628R; 1:22906103-22906103 |
pancreas | carcinoma | Substitution - Missense |
c.1036C>A; p.P346T; 1:22864945-22864945 |
liver | carcinoma | Substitution - Missense |
c.2372G>A; p.R791H; 1:22909041-22909041 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2107G>T; p.E703*; 1:22906928-22906928 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1036C>A; p.P346T; 1:22864945-22864945 |
liver | carcinoma | Substitution - Missense |
c.2365C>T; p.P789S; 1:22909034-22909034 |
skin | malignant_melanoma | Substitution - Missense |
c.1647C>T; p.A549A; 1:22895527-22895527 |
skin | malignant_melanoma | Substitution - coding silent |
c.1432C>T; p.L478F; 1:22892887-22892887 |
liver | carcinoma | Substitution - Missense |
c.1432C>T; p.L478F; 1:22892887-22892887 |
liver | carcinoma | Substitution - Missense |
c.1889-1G>C; p.?; 1:22906709-22906709 |
urinary_tract; bladder | carcinoma | Unknown |
c.2409C>T; p.F803F; 1:22909078-22909078 |
skin | malignant_melanoma | Substitution - coding silent |
c.1340G>A; p.R447H; 1:22882395-22882395 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2802C>T; p.F934F; 1:22912549-22912549 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1725G>A; p.S575S; 1:22896438-22896438 |
skin | malignant_melanoma | Substitution - coding silent |
c.69A>G; p.L23L; 1:22781428-22781428 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2346T>G; p.S782R; 1:22908162-22908162 |
skin | malignant_melanoma | Substitution - Missense |
c.366G>A; p.S122S; 1:22784631-22784631 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.426A>C; p.A142A; 1:22784691-22784691 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2628T>G; p.I876M; 1:22910507-22910507 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.G275E; 1:22863049-22863049 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2200A>G; p.M734V; 1:22908016-22908016 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.736G>A; p.E246K; 1:22785001-22785001 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.631C>T; p.L211L; 1:22784896-22784896 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.987G>A; p.Q329Q; 1:22864896-22864896 |
skin | malignant_melanoma | Substitution - coding silent |
c.1290C>T; p.T430T; 1:22865199-22865199 |
skin | malignant_melanoma | Substitution - coding silent |
c.1049C>T; p.S350F; 1:22864958-22864958 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1454C>T; p.A485V; 1:22892909-22892909 |
skin | malignant_melanoma | Substitution - Missense |
c.1407T>A; p.Y469*; 1:22882462-22882462 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.242G>A; p.R81H; 1:22784507-22784507 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.914G>A; p.C305Y; 1:22863139-22863139 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2474G>A; p.R825Q; 1:22909143-22909143 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2474G>A; p.R825Q; 1:22909143-22909143 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1980G>A; p.T660T; 1:22906801-22906801 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.325G>A; p.E109K; 1:22784590-22784590 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1980G>A; p.T660T; 1:22906801-22906801 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1638C>A; p.G546G; 1:22895518-22895518 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1733C>T; p.T578M; 1:22896446-22896446 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.170G>A; p.R57H; 1:22784435-22784435 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3097C>T; p.R1033W; 1:22913799-22913799 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2660C>T; p.P887L; 1:22910539-22910539 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.1043G>A; p.R348H; 1:22864952-22864952 |
pancreas | carcinoma | Substitution - Missense |
c.2560G>A; p.A854T; 1:22910439-22910439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1043G>A; p.R348H; 1:22864952-22864952 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1722C>T; p.D574D; 1:22896435-22896435 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1734G>A; p.T578T; 1:22896447-22896447 |
skin | malignant_melanoma | Substitution - coding silent |
c.1722C>T; p.D574D; 1:22896435-22896435 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2031C>T; p.F677F; 1:22906852-22906852 |
skin | malignant_melanoma | Substitution - coding silent |
c.2513C>G; p.A838G; 1:22910392-22910392 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.917G>A; p.R306H; 1:22863142-22863142 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.568G>A; p.V190M; 1:22784833-22784833 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.591C>T; p.C197C; 1:22784856-22784856 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1796C>T; p.P599L; 1:22906017-22906017 |
skin | malignant_melanoma | Substitution - Missense |
c.1796C>T; p.P599L; 1:22906017-22906017 |
skin | malignant_melanoma | Substitution - Missense |
c.2446A>G; p.M816V; 1:22909115-22909115 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2832C>T; p.V944V; 1:22912579-22912579 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.2832C>T; p.V944V; 1:22912579-22912579 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.2832C>T; p.V944V; 1:22912579-22912579 |
skin | malignant_melanoma | Substitution - coding silent |
c.318C>A; p.S106S; 1:22784583-22784583 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.232A>T; p.I78F; 1:22784497-22784497 |
skin | malignant_melanoma | Substitution - Missense |
c.978C>T; p.S326S; 1:22864887-22864887 |
skin | malignant_melanoma | Substitution - coding silent |
c.746T>G; p.V249G; 1:22785011-22785011 |
thyroid | other; neoplasm | Substitution - Missense |
c.978C>T; p.S326S; 1:22864887-22864887 |
skin | malignant_melanoma | Substitution - coding silent |
c.1994G>A; p.R665Q; 1:22906815-22906815 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.978C>T; p.S326S; 1:22864887-22864887 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.746T>G; p.V249G; 1:22785011-22785011 |
skin; ear | malignant_melanoma | Substitution - Missense |
c.2058G>A; p.E686E; 1:22906879-22906879 |
skin | malignant_melanoma | Substitution - coding silent |
c.1371C>T; p.S457S; 1:22882426-22882426 |
skin | malignant_melanoma | Substitution - coding silent |
c.235C>T; p.R79W; 1:22784500-22784500 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.682G>A; p.A228T; 1:22784947-22784947 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2804C>G; p.A935G; 1:22912551-22912551 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.235C>T; p.R79W; 1:22784500-22784500 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2289G>A; p.S763S; 1:22908105-22908105 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2289G>A; p.S763S; 1:22908105-22908105 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2289G>A; p.S763S; 1:22908105-22908105 |
skin | malignant_melanoma | Substitution - coding silent |
c.2289G>A; p.S763S; 1:22908105-22908105 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.980C>T; p.A327V; 1:22864889-22864889 |
prostate | carcinoma | Substitution - Missense |
c.238C>T; p.R80C; 1:22784503-22784503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2864G>T; p.R955L; 1:22913473-22913473 |
skin | malignant_melanoma | Substitution - Missense |
c.3092delG; p.R1033fs*>23; 1:22913794-22913794 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2789A>G; p.Y930C; 1:22912536-22912536 |
meninges | meningioma | Substitution - Missense |
c.2378C>A; p.T793K; 1:22909047-22909047 |
thyroid | other; neoplasm | Substitution - Missense |
c.2164C>T; p.Q722*; 1:22907980-22907980 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1086C>T; p.C362C; 1:22864995-22864995 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2517T>G; p.I839M; 1:22910396-22910396 |
breast | carcinoma | Substitution - Missense |
c.654G>A; p.S218S; 1:22784919-22784919 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1027G>A; p.E343K; 1:22864936-22864936 |
skin | malignant_melanoma | Substitution - Missense |
c.1772C>T; p.P591L; 1:22905993-22905993 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2107G>A; p.E703K; 1:22906928-22906928 |
skin | malignant_melanoma | Substitution - Missense |
c.2958C>A; p.G986G; 1:22913660-22913660 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2107G>A; p.E703K; 1:22906928-22906928 |
skin | malignant_melanoma | Substitution - Missense |
c.1301C>T; p.A434V; 1:22865210-22865210 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1792G>A; p.D598N; 1:22906013-22906013 |
skin | malignant_melanoma | Substitution - Missense |
c.653C>T; p.S218L; 1:22784918-22784918 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.164C>T; p.T55M; 1:22784429-22784429 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3127G>A; p.D1043N; 1:22913829-22913829 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.164C>T; p.T55M; 1:22784429-22784429 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2060G>A; p.G687D; 1:22906881-22906881 |
skin | malignant_melanoma | Substitution - Missense |
c.1991G>T; p.R664L; 1:22906812-22906812 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2670delC; p.A892fs*57; 1:22910549-22910549 |
pancreas | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.118C>T; p.P40S; 1:22781477-22781477 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853G>A; p.A285T; 1:22863078-22863078 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.848A>G; p.D283G; 1:22863073-22863073 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.278C>T; p.S93L; 1:22784543-22784543 |
skin | malignant_melanoma | Substitution - Missense |
c.3051A>G; p.G1017G; 1:22913753-22913753 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2830G>A; p.V944I; 1:22912577-22912577 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.394G>A; p.E132K; 1:22784659-22784659 |
skin | malignant_melanoma | Substitution - Missense |
c.2414C>T; p.S805L; 1:22909083-22909083 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1306C>T; p.P436S; 1:22882361-22882361 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1168G>T; p.E390*; 1:22865077-22865077 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1068C>T; p.L356L; 1:22864977-22864977 |
breast | carcinoma | Substitution - coding silent |
c.294C>A; p.S98R; 1:22784559-22784559 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1257C>T; p.P419P; 1:22865166-22865166 |
liver | carcinoma | Substitution - coding silent |
c.780C>T; p.F260F; 1:22785045-22785045 |
skin | malignant_melanoma | Substitution - coding silent |
c.507G>A; p.V169V; 1:22784772-22784772 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1257C>T; p.P419P; 1:22865166-22865166 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2044G>A; p.V682I; 1:22906865-22906865 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1971G>T; p.S657S; 1:22906792-22906792 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1276T>C; p.S426P; 1:22865185-22865185 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.189C>T; p.N63N; 1:22784454-22784454 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2233C>T; p.R745C; 1:22908049-22908049 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1561G>A; p.G521S; 1:22893016-22893016 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2373C>A; p.R791R; 1:22909042-22909042 |
pancreas | carcinoma | Substitution - coding silent |
c.2191G>A; p.A731T; 1:22908007-22908007 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3010C>T; p.P1004S; 1:22913712-22913712 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.636G>A; p.S212S; 1:22784901-22784901 |
pancreas | NS | Substitution - coding silent |
c.636G>A; p.S212S; 1:22784901-22784901 |
pancreas | carcinoma | Substitution - coding silent |
c.793A>G; p.N265D; 1:22785058-22785058 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1177delA; p.I393fs*19; 1:22865086-22865086 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1177delA; p.I393fs*19; 1:22865086-22865086 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1177delA; p.I393fs*19; 1:22865086-22865086 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1177delA; p.I393fs*19; 1:22865086-22865086 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1177delA; p.I393fs*19; 1:22865086-22865086 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1177delA; p.I393fs*19; 1:22865086-22865086 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1177delA; p.I393fs*19; 1:22865086-22865086 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1177delA; p.I393fs*19; 1:22865086-22865086 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1246G>T; p.D416Y; 1:22865155-22865155 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.115C>T; p.P39S; 1:22781474-22781474 |
skin | malignant_melanoma | Substitution - Missense |
c.1575C>T; p.F525F; 1:22893030-22893030 |
skin | malignant_melanoma | Substitution - coding silent |
c.2531G>A; p.R844Q; 1:22910410-22910410 |
skin | malignant_melanoma | Substitution - Missense |
c.753C>T; p.I251I; 1:22785018-22785018 |
breast | carcinoma | Substitution - coding silent |
c.1126G>A; p.G376R; 1:22865035-22865035 |
skin | malignant_melanoma | Substitution - Missense |
c.2595G>A; p.K865K; 1:22910474-22910474 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.181G>C; p.V61L; 1:22784446-22784446 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1052G>A; p.G351E; 1:22864961-22864961 |
skin | malignant_melanoma | Substitution - Missense |
c.2353-1G>T; p.?; 1:22909021-22909021 |
skin | malignant_melanoma | Unknown |
c.488T>C; p.V163A; 1:22784753-22784753 |
skin | malignant_melanoma | Substitution - Missense |
c.2881G>A; p.A961T; 1:22913490-22913490 |
skin | malignant_melanoma | Substitution - Missense |
c.491G>A; p.R164Q; 1:22784756-22784756 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.491G>A; p.R164Q; 1:22784756-22784756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2619C>T; p.F873F; 1:22910498-22910498 |
skin | malignant_melanoma | Substitution - coding silent |
c.517G>A; p.G173S; 1:22784782-22784782 |
liver | carcinoma | Substitution - Missense |
c.1927C>A; p.P643T; 1:22906748-22906748 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.517G>A; p.G173S; 1:22784782-22784782 |
liver | carcinoma | Substitution - Missense |
c.984C>A; p.P328P; 1:22864893-22864893 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1881C>T; p.I627I; 1:22906102-22906102 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1535C>T; p.T512I; 1:22892990-22892990 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1627C>T; p.L543F; 1:22895507-22895507 |
breast | carcinoma | Substitution - Missense |
c.1420T>C; p.Y474H; 1:22882475-22882475 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2463C>G; p.S821S; 1:22909132-22909132 |
kidney | other; neoplasm | Substitution - coding silent |
c.1390G>A; p.G464S; 1:22882445-22882445 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.531C>T; p.A177A; 1:22784796-22784796 |
breast | carcinoma | Substitution - coding silent |
c.1552C>T; p.R518C; 1:22893007-22893007 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1552C>T; p.R518C; 1:22893007-22893007 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.2675C>A; p.A892D; 1:22910554-22910554 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2562C>T; p.A854A; 1:22910441-22910441 |
skin | malignant_melanoma | Substitution - coding silent |
c.220C>T; p.R74W; 1:22784485-22784485 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.949C>A; p.L317M; 1:22863174-22863174 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.999C>T; p.S333S; 1:22864908-22864908 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1069G>A; p.V357I; 1:22864978-22864978 |
breast | carcinoma | Substitution - Missense |
c.1069G>A; p.V357I; 1:22864978-22864978 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.952G>A; p.D318N; 1:22863177-22863177 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.1724C>T; p.S575L; 1:22896437-22896437 |
oesophagus | carcinoma | Substitution - Missense |
c.1402G>T; p.D468Y; 1:22882457-22882457 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1491C>A; p.G497G; 1:22892946-22892946 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3150C>T; p.D1050D; 1:22913852-22913852 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1765+2T>C; p.?; 1:22896480-22896480 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.509C>T; p.S170F; 1:22784774-22784774 |
skin | malignant_melanoma | Substitution - Missense |
c.509C>T; p.S170F; 1:22784774-22784774 |
skin | malignant_melanoma | Substitution - Missense |
c.207G>A; p.Q69Q; 1:22784472-22784472 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.306C>T; p.S102S; 1:22784571-22784571 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2234G>C; p.R745P; 1:22908050-22908050 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1122C>T; p.R374R; 1:22865031-22865031 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2007C>T; p.S669S; 1:22906828-22906828 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2007C>T; p.S669S; 1:22906828-22906828 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2007C>T; p.S669S; 1:22906828-22906828 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2007C>T; p.S669S; 1:22906828-22906828 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.466G>A; p.V156I; 1:22784731-22784731 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2653C>T; p.R885C; 1:22910532-22910532 |
skin | malignant_melanoma | Substitution - Missense |
c.2599C>T; p.R867C; 1:22910478-22910478 |
skin | malignant_melanoma | Substitution - Missense |
c.2298G>A; p.G766G; 1:22908114-22908114 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2581G>A; p.D861N; 1:22910460-22910460 |
skin | malignant_melanoma | Substitution - Missense |
c.2652C>T; p.I884I; 1:22910531-22910531 |
skin | malignant_melanoma | Substitution - coding silent |
c.466G>A; p.V156I; 1:22784731-22784731 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.450G>A; p.V150V; 1:22784715-22784715 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.329C>A; p.T110N; 1:22784594-22784594 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2238C>T; p.D746D; 1:22908054-22908054 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1365G>A; p.S455S; 1:22882420-22882420 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1702C>T; p.R568W; 1:22896415-22896415 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1830G>A; p.R610R; 1:22906051-22906051 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1702C>T; p.R568W; 1:22896415-22896415 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1549G>A; p.G517R; 1:22893004-22893004 |
breast | carcinoma | Substitution - Missense |
c.643G>A; p.E215K; 1:22784908-22784908 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1702C>T; p.R568W; 1:22896415-22896415 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1201C>A; p.H401N; 1:22865110-22865110 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.221G>A; p.R74Q; 1:22784486-22784486 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.534C>T; p.F178F; 1:22784799-22784799 |
skin | malignant_melanoma | Substitution - coding silent |
c.221G>A; p.R74Q; 1:22784486-22784486 |
skin | malignant_melanoma | Substitution - Missense |
c.1501G>A; p.G501S; 1:22892956-22892956 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1378G>A; p.D460N; 1:22882433-22882433 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1041C>T; p.P347P; 1:22864950-22864950 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.909T>C; p.C303C; 1:22863134-22863134 |
skin | malignant_melanoma | Substitution - coding silent |
c.2098G>A; p.E700K; 1:22906919-22906919 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2680G>A; p.A894T; 1:22910559-22910559 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2454G>A; p.E818E; 1:22909123-22909123 |
liver | carcinoma | Substitution - coding silent |
c.2364C>T; p.I788I; 1:22909033-22909033 |
skin | malignant_melanoma | Substitution - coding silent |
c.3048C>T; p.D1016D; 1:22913750-22913750 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.411G>A; p.K137K; 1:22784676-22784676 |
skin | malignant_melanoma | Substitution - coding silent |
c.548G>A; p.G183D; 1:22784813-22784813 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1819G>A; p.E607K; 1:22906040-22906040 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1819G>A; p.E607K; 1:22906040-22906040 |
skin | malignant_melanoma | Substitution - Missense |
c.1819G>A; p.E607K; 1:22906040-22906040 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1842G>A; p.K614K; 1:22906063-22906063 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.699G>A; p.V233V; 1:22784964-22784964 |
NS | malignant_melanoma | Substitution - coding silent |
c.699G>A; p.V233V; 1:22784964-22784964 |
NS | malignant_melanoma | Substitution - coding silent |
c.2097C>T; p.T699T; 1:22906918-22906918 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1031G>T; p.W344L; 1:22864940-22864940 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1923G>A; p.K641K; 1:22906744-22906744 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2860C>A; p.L954I; 1:22913469-22913469 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1818C>T; p.N606N; 1:22906039-22906039 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2259C>T; p.L753L; 1:22908075-22908075 |
skin | malignant_melanoma | Substitution - coding silent |
c.65C>T; p.T22M; 1:22781424-22781424 |
pancreas | carcinoma | Substitution - Missense |
c.91G>A; p.A31T; 1:22781450-22781450 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2724G>A; p.T908T; 1:22912471-22912471 |
skin | malignant_melanoma | Substitution - coding silent |
c.1339C>T; p.R447C; 1:22882394-22882394 |
skin | malignant_melanoma | Substitution - Missense |
c.729G>A; p.G243G; 1:22784994-22784994 |
skin | malignant_melanoma | Substitution - coding silent |
c.65C>T; p.T22M; 1:22781424-22781424 |
kidney | other; neoplasm | Substitution - Missense |
c.128G>T; p.W43L; 1:22784393-22784393 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1263G>T; p.S421S; 1:22865172-22865172 |
breast | carcinoma | Substitution - coding silent |
c.2690C>T; p.S897F; 1:22910569-22910569 |
skin | malignant_melanoma | Substitution - Missense |
c.579C>G; p.F193L; 1:22784844-22784844 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2008G>A; p.E670K; 1:22906829-22906829 |
skin | malignant_melanoma | Substitution - Missense |
c.94G>A; p.E32K; 1:22781453-22781453 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1828C>T; p.R610W; 1:22906049-22906049 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1175G>A; p.R392H; 1:22865084-22865084 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1175G>A; p.R392H; 1:22865084-22865084 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1175G>A; p.R392H; 1:22865084-22865084 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1175G>A; p.R392H; 1:22865084-22865084 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2248C>T; p.R750C; 1:22908064-22908064 |
skin | malignant_melanoma | Substitution - Missense |
c.2126C>T; p.S709F; 1:22906947-22906947 |
skin | malignant_melanoma | Substitution - Missense |
c.1791C>T; p.I597I; 1:22906012-22906012 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3051delA; p.K1020fs*>36; 1:22913753-22913753 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2209C>T; p.L737L; 1:22908025-22908025 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3051delA; p.K1020fs*>36; 1:22913753-22913753 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2232C>T; p.H744H; 1:22908048-22908048 |
skin | malignant_melanoma | Substitution - coding silent |
c.1345G>A; p.V449M; 1:22882400-22882400 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2495A>G; p.N832S; 1:22909164-22909164 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.614C>T; p.A205V; 1:22784879-22784879 |
skin; back | malignant_melanoma | Substitution - Missense |
c.1277C>G; p.S426C; 1:22865186-22865186 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1071C>G; p.V357V; 1:22864980-22864980 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2665A>G; p.S889G; 1:22910544-22910544 |
breast | carcinoma | Substitution - Missense |
c.2635A>G; p.T879A; 1:22910514-22910514 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.606G>T; p.Q202H; 1:22784871-22784871 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2422G>A; p.D808N; 1:22909091-22909091 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2088G>A; p.M696I; 1:22906909-22906909 |
skin | malignant_melanoma | Substitution - Missense |
c.2928G>A; p.A976A; 1:22913537-22913537 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1106G>A; p.R369Q; 1:22865015-22865015 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.2769G>T; p.E923D; 1:22912516-22912516 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2319C>T; p.D773D; 1:22908135-22908135 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1482C>T; p.T494T; 1:22892937-22892937 |
skin | malignant_melanoma | Substitution - coding silent |
c.1044C>T; p.R348R; 1:22864953-22864953 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.262G>A; p.V88M; 1:22784527-22784527 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.262G>A; p.V88M; 1:22784527-22784527 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.261C>T; p.H87H; 1:22784526-22784526 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2620G>A; p.G874S; 1:22910499-22910499 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1843G>A; p.E615K; 1:22906064-22906064 |
skin; knee | malignant_melanoma | Substitution - Missense |
c.261C>T; p.H87H; 1:22784526-22784526 |
breast | carcinoma | Substitution - coding silent |
c.1843G>A; p.E615K; 1:22906064-22906064 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1843G>A; p.E615K; 1:22906064-22906064 |
skin | malignant_melanoma | Substitution - Missense |
c.1843G>A; p.E615K; 1:22906064-22906064 |
skin | malignant_melanoma | Substitution - Missense |
c.1843G>A; p.E615K; 1:22906064-22906064 |
skin | malignant_melanoma | Substitution - Missense |
c.2620G>A; p.G874S; 1:22910499-22910499 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2682G>A; p.A894A; 1:22910561-22910561 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.153G>T; p.E51D; 1:22784418-22784418 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2818A>C; p.T940P; 1:22912565-22912565 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.603C>T; p.I201I; 1:22784868-22784868 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1246G>C; p.D416H; 1:22865155-22865155 |
prostate | carcinoma | Substitution - Missense |
c.2905A>T; p.N969Y; 1:22913514-22913514 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |