General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 4920 |
Name | ROR2 |
Synonymous | receptor tyrosine kinase-like orphan receptor 2;ROR2;receptor tyrosine kinase-like orphan receptor 2 |
Definition | neurotrophic tyrosine kinase receptor-related 2|tyrosine-protein kinase transmembrane receptor ROR2 |
Position | 9q22 |
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 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.06. |
The copy number variations for various cancers | Top |
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.356G>A; p.R119Q; 9:91757379-91757379 |
skin | malignant_melanoma | Substitution - Missense |
c.1735G>A; p.D579N; 9:91724759-91724759 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.947G>A; p.C316Y; 9:91731146-91731146 |
skin | malignant_melanoma | Substitution - Missense |
c.1814A>C; p.Y605S; 9:91724680-91724680 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1436T>C; p.L479P; 9:91725058-91725058 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.947G>A; p.C316Y; 9:91731146-91731146 |
skin | malignant_melanoma | Substitution - Missense |
c.1814A>C; p.Y605S; 9:91724680-91724680 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1556A>G; p.E519G; 9:91724938-91724938 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2029T>C; p.S677P; 9:91724465-91724465 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1155C>G; p.R385R; 9:91730938-91730938 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1797C>T; p.I599I; 9:91724697-91724697 |
skin | malignant_melanoma | Substitution - coding silent |
c.995A>T; p.K332M; 9:91731098-91731098 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1843G>A; p.D615N; 9:91724651-91724651 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1843G>A; p.D615N; 9:91724651-91724651 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.322C>T; p.R108W; 9:91757413-91757413 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.555C>T; p.F185F; 9:91737458-91737458 |
skin | malignant_melanoma | Substitution - coding silent |
c.2770G>A; p.E924K; 9:91723724-91723724 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.1048C>A; p.L350M; 9:91731045-91731045 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1949G>T; p.G650V; 9:91724545-91724545 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2321G>A; p.S774N; 9:91724173-91724173 |
liver | carcinoma | Substitution - Missense |
c.799G>A; p.E267K; 9:91733260-91733260 |
skin | malignant_melanoma | Substitution - Missense |
c.799G>A; p.E267K; 9:91733260-91733260 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1095C>G; p.C365W; 9:91730998-91730998 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.233C>T; p.T78M; 9:91757502-91757502 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1920G>A; p.V640V; 9:91724574-91724574 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1707G>A; p.S569S; 9:91724787-91724787 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1450T>A; p.F484I; 9:91725044-91725044 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1177T>A; p.S393T; 9:91730916-91730916 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1244C>T; p.P415L; 9:91726683-91726683 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2680G>A; p.A894T; 9:91723814-91723814 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1739A>G; p.D580G; 9:91724755-91724755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1137G>A; p.T379T; 9:91730956-91730956 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2367C>A; p.P789P; 9:91724127-91724127 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.651G>A; p.T217T; 9:91733408-91733408 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1416G>A; p.A472A; 9:91725078-91725078 |
skin | malignant_melanoma | Substitution - coding silent |
c.2117G>A; p.R706Q; 9:91724377-91724377 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2155G>A; p.A719T; 9:91724339-91724339 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.137C>T; p.P46L; 9:91775779-91775779 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.2395C>T; p.P799S; 9:91724099-91724099 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.151G>A; p.D51N; 9:91775765-91775765 |
ovary | other; neoplasm | Substitution - Missense |
c.2482C>A; p.P828T; 9:91724012-91724012 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2395C>T; p.P799S; 9:91724099-91724099 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2442G>A; p.P814P; 9:91724052-91724052 |
pancreas | carcinoma | Substitution - coding silent |
c.1153C>T; p.R385C; 9:91730940-91730940 |
large_intestine | adenoma | Substitution - Missense |
c.1821C>T; p.S607S; 9:91724673-91724673 |
skin | malignant_melanoma | Substitution - coding silent |
c.671C>T; p.S224L; 9:91733388-91733388 |
breast | carcinoma | Substitution - Missense |
c.671C>T; p.S224L; 9:91733388-91733388 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.824C>T; p.P275L; 9:91733235-91733235 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1885G>A; p.V629M; 9:91724609-91724609 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.569C>T; p.T190I; 9:91737444-91737444 |
skin | malignant_melanoma | Substitution - Missense |
c.2003A>C; p.K668T; 9:91724491-91724491 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.526C>A; p.P176T; 9:91737487-91737487 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1964C>T; p.P655L; 9:91724530-91724530 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.761A>G; p.D254G; 9:91733298-91733298 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1571A>C; p.E524A; 9:91724923-91724923 |
kidney | other; neoplasm | Substitution - Missense |
c.2304G>A; p.T768T; 9:91724190-91724190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1523C>T; p.T508M; 9:91724971-91724971 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2203C>T; p.R735W; 9:91724291-91724291 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2203C>T; p.R735W; 9:91724291-91724291 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2388C>T; p.F796F; 9:91724106-91724106 |
skin | malignant_melanoma | Substitution - coding silent |
c.482A>T; p.N161I; 9:91756083-91756083 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.508G>A; p.E170K; 9:91737505-91737505 |
skin | malignant_melanoma | Substitution - Missense |
c.1639C>A; p.Q547K; 9:91724855-91724855 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.743C>T; p.P248L; 9:91733316-91733316 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.295G>A; p.D99N; 9:91757440-91757440 |
skin | malignant_melanoma | Substitution - Missense |
c.2357A>G; p.Y786C; 9:91724137-91724137 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1448G>A; p.R483Q; 9:91725046-91725046 |
breast | carcinoma | Substitution - Missense |
c.2183G>C; p.C728S; 9:91724311-91724311 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.548C>T; p.A183V; 9:91737465-91737465 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.417C>A; p.N139K; 9:91757318-91757318 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1538C>A; p.A513E; 9:91724956-91724956 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1101C>T; p.N367N; 9:91730992-91730992 |
skin | malignant_melanoma | Substitution - coding silent |
c.1623C>T; p.G541G; 9:91724871-91724871 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.339G>A; p.K113K; 9:91757396-91757396 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.982G>A; p.A328T; 9:91731111-91731111 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1623C>T; p.G541G; 9:91724871-91724871 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.763G>A; p.E255K; 9:91733296-91733296 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2134C>T; p.P712S; 9:91724360-91724360 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1842G>A; p.K614K; 9:91724652-91724652 |
skin | malignant_melanoma | Substitution - coding silent |
c.1738G>T; p.D580Y; 9:91724756-91724756 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2134C>T; p.P712S; 9:91724360-91724360 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2725G>A; p.V909M; 9:91723769-91723769 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1399G>A; p.E467K; 9:91725095-91725095 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.317C>T; p.P106L; 9:91757418-91757418 |
stomach | carcinoma | Substitution - Missense |
c.1545G>T; p.G515G; 9:91724949-91724949 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.323G>A; p.R108Q; 9:91757412-91757412 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1331T>C; p.L444P; 9:91726596-91726596 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.838C>T; p.R280W; 9:91733221-91733221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1027C>A; p.Q343K; 9:91731066-91731066 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2453A>T; p.Y818F; 9:91724041-91724041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.838C>T; p.R280W; 9:91733221-91733221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1300G>A; p.A434T; 9:91726627-91726627 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2567T>C; p.V856A; 9:91723927-91723927 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.574T>C; p.Y192H; 9:91737439-91737439 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.323G>T; p.R108L; 9:91757412-91757412 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.303G>A; p.P101P; 9:91757432-91757432 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2064C>T; p.Y688Y; 9:91724430-91724430 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.823C>T; p.P275S; 9:91733236-91733236 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1614C>T; p.C538C; 9:91724880-91724880 |
liver | carcinoma | Substitution - coding silent |
c.457C>T; p.R153W; 9:91757278-91757278 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1687G>A; p.E563K; 9:91724807-91724807 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.457C>T; p.R153W; 9:91757278-91757278 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2068C>A; p.L690M; 9:91724426-91724426 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.534G>A; p.R178R; 9:91737479-91737479 |
skin | malignant_melanoma | Substitution - coding silent |
c.2091C>T; p.S697S; 9:91724403-91724403 |
skin | malignant_melanoma | Substitution - coding silent |
c.2644T>G; p.S882A; 9:91723850-91723850 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2377G>T; p.A793S; 9:91724117-91724117 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1624G>A; p.V542M; 9:91724870-91724870 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1624G>A; p.V542M; 9:91724870-91724870 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2408C>T; p.P803L; 9:91724086-91724086 |
skin | malignant_melanoma | Substitution - Missense |
c.2315C>T; p.S772F; 9:91724179-91724179 |
skin | malignant_melanoma | Substitution - Missense |
c.2577C>T; p.P859P; 9:91723917-91723917 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1588C>T; p.R530W; 9:91724906-91724906 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1588C>T; p.R530W; 9:91724906-91724906 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2766G>T; p.E922D; 9:91723728-91723728 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1330C>A; p.L444M; 9:91726597-91726597 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1670C>T; p.S557L; 9:91724824-91724824 |
skin | malignant_melanoma | Substitution - Missense |
c.2018C>G; p.S673*; 9:91724476-91724476 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.98-1G>T; p.?; 9:91775819-91775819 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1670C>T; p.S557L; 9:91724824-91724824 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.1969C>T; p.R657C; 9:91724525-91724525 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1254C>T; p.I418I; 9:91726673-91726673 |
skin | malignant_melanoma | Substitution - coding silent |
c.1969C>T; p.R657C; 9:91724525-91724525 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2327G>A; p.S776N; 9:91724167-91724167 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1800G>C; p.A600A; 9:91724694-91724694 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2678G>A; p.G893D; 9:91723816-91723816 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2250C>T; p.G750G; 9:91724244-91724244 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2335A>G; p.S779G; 9:91724159-91724159 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2632C>T; p.P878S; 9:91723862-91723862 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.158C>A; p.P53Q; 9:91775758-91775758 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.158C>A; p.P53Q; 9:91775758-91775758 |
liver | carcinoma | Substitution - Missense |
c.1172T>C; p.V391A; 9:91730921-91730921 |
skin; back | malignant_melanoma | Substitution - Missense |
c.1999G>A; p.G667S; 9:91724495-91724495 |
large_intestine; colon | adenoma | Substitution - Missense |
c.1890G>T; p.K630N; 9:91724604-91724604 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.663C>T; p.D221D; 9:91733396-91733396 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1625T>C; p.V542A; 9:91724869-91724869 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2622C>T; p.V874V; 9:91723872-91723872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1625T>C; p.V542A; 9:91724869-91724869 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1228C>T; p.P410S; 9:91726699-91726699 |
skin | malignant_melanoma | Substitution - Missense |
c.2413A>G; p.K805E; 9:91724081-91724081 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>C; p.G361A; 9:91731011-91731011 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1659C>T; p.F553F; 9:91724835-91724835 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1105G>A; p.G369R; 9:91730988-91730988 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2172C>T; p.L724L; 9:91724322-91724322 |
breast | carcinoma | Substitution - coding silent |
c.815G>A; p.R272H; 9:91733244-91733244 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2249G>A; p.G750D; 9:91724245-91724245 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2249G>A; p.G750D; 9:91724245-91724245 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.169C>T; p.L57L; 9:91775747-91775747 |
skin | malignant_melanoma | Substitution - coding silent |
c.815G>A; p.R272H; 9:91733244-91733244 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1820C>T; p.S607F; 9:91724674-91724674 |
skin | malignant_melanoma | Substitution - Missense |
c.1101C>A; p.N367K; 9:91730992-91730992 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1758C>T; p.A586A; 9:91724736-91724736 |
skin | malignant_melanoma | Substitution - coding silent |
c.1149C>T; p.N383N; 9:91730944-91730944 |
pancreas | carcinoma | Substitution - coding silent |
c.1149C>T; p.N383N; 9:91730944-91730944 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1873G>A; p.D625N; 9:91724621-91724621 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.231G>T; p.Q77H; 9:91757504-91757504 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2710G>T; p.G904W; 9:91723784-91723784 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1023C>T; p.A341A; 9:91731070-91731070 |
skin | malignant_melanoma | Substitution - coding silent |
c.1010G>A; p.C337Y; 9:91731083-91731083 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.628T>C; p.F210L; 9:91733431-91733431 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.350G>A; p.G117D; 9:91757385-91757385 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.733A>G; p.T245A; 9:91733326-91733326 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.733A>G; p.T245A; 9:91733326-91733326 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733A>G; p.T245A; 9:91733326-91733326 |
thyroid | other; neoplasm | Substitution - Missense |
c.2778G>A; p.L926L; 9:91723716-91723716 |
skin | malignant_melanoma | Substitution - coding silent |
c.153C>A; p.D51E; 9:91775763-91775763 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1547C>T; p.P516L; 9:91724947-91724947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2221G>A; p.D741N; 9:91724273-91724273 |
skin | malignant_melanoma | Substitution - Missense |
c.153C>A; p.D51E; 9:91775763-91775763 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1741C>G; p.R581G; 9:91724753-91724753 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1764G>A; p.E588E; 9:91724730-91724730 |
skin | malignant_melanoma | Substitution - coding silent |
c.2517G>T; p.P839P; 9:91723977-91723977 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1692C>T; p.F564F; 9:91724802-91724802 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1971C>T; p.R657R; 9:91724523-91724523 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1860T>C; p.N620N; 9:91724634-91724634 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1855C>T; p.R619C; 9:91724639-91724639 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1247T>A; p.L416Q; 9:91726680-91726680 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1321C>T; p.R441W; 9:91726606-91726606 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1747G>A; p.V583M; 9:91724747-91724747 |
skin | malignant_melanoma | Substitution - Missense |
c.2124G>A; p.R708R; 9:91724370-91724370 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1855C>T; p.R619C; 9:91724639-91724639 |
large_intestine | adenoma | Substitution - Missense |
c.1256C>T; p.A419V; 9:91726671-91726671 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1991T>C; p.I664T; 9:91724503-91724503 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2634delC; p.S879fs*>65; 9:91723860-91723860 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.821A>G; p.N274S; 9:91733238-91733238 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1538C>T; p.A513V; 9:91724956-91724956 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>C; p.N163T; 9:91756077-91756077 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2724C>A; p.T908T; 9:91723770-91723770 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2516C>T; p.P839L; 9:91723978-91723978 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2516C>T; p.P839L; 9:91723978-91723978 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1417G>T; p.V473L; 9:91725077-91725077 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2516C>T; p.P839L; 9:91723978-91723978 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2014G>A; p.D672N; 9:91724480-91724480 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2014G>A; p.D672N; 9:91724480-91724480 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2173A>G; p.M725V; 9:91724321-91724321 |
prostate | carcinoma | Substitution - Missense |
c.1553G>A; p.R518Q; 9:91724941-91724941 |
breast | carcinoma | Substitution - Missense |
c.1015C>T; p.P339S; 9:91731078-91731078 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1015C>T; p.P339S; 9:91731078-91731078 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1942C>A; p.L648M; 9:91724552-91724552 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.2197C>T; p.P733S; 9:91724297-91724297 |
skin | malignant_melanoma | Substitution - Missense |
c.2672C>T; p.S891L; 9:91723822-91723822 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.436G>A; p.A146T; 9:91757299-91757299 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.722C>A; p.A241E; 9:91733337-91733337 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1479C>A; p.F493L; 9:91725015-91725015 |
breast | carcinoma | Substitution - Missense |
c.1178C>T; p.S393L; 9:91730915-91730915 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2517G>C; p.P839P; 9:91723977-91723977 |
prostate | carcinoma | Substitution - coding silent |
c.1178C>T; p.S393L; 9:91730915-91730915 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.977G>T; p.G326V; 9:91731116-91731116 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.977G>T; p.G326V; 9:91731116-91731116 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2698G>A; p.A900T; 9:91723796-91723796 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1709C>T; p.P570L; 9:91724785-91724785 |
prostate | carcinoma | Substitution - Missense |
c.1770C>A; p.P590P; 9:91724724-91724724 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1041_1042CC>AG; p.S347>?; 9:91731051-91731052 |
large_intestine; caecum | carcinoma; adenocarcinoma | Complex |
c.2122C>A; p.R708R; 9:91724372-91724372 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1716G>A; p.S572S; 9:91724778-91724778 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1480G>A; p.G494S; 9:91725014-91725014 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1480G>A; p.G494S; 9:91725014-91725014 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.520T>A; p.C174S; 9:91737493-91737493 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2680G>T; p.A894S; 9:91723814-91723814 |
pancreas | carcinoma | Substitution - Missense |
c.2204G>A; p.R735Q; 9:91724290-91724290 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.157C>T; p.P53S; 9:91775759-91775759 |
skin | malignant_melanoma | Substitution - Missense |
c.1415C>T; p.A472V; 9:91725079-91725079 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.814C>T; p.R272C; 9:91733245-91733245 |
pancreas | carcinoma | Substitution - Missense |
c.814C>T; p.R272C; 9:91733245-91733245 |
pancreas | carcinoma | Substitution - Missense |
c.1486G>T; p.A496S; 9:91725008-91725008 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2036G>A; p.G679D; 9:91724458-91724458 |
pancreas | carcinoma | Substitution - Missense |
c.2036G>A; p.G679D; 9:91724458-91724458 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.2349C>T; p.N783N; 9:91724145-91724145 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.814C>T; p.R272C; 9:91733245-91733245 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2191G>A; p.E731K; 9:91724303-91724303 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2191G>A; p.E731K; 9:91724303-91724303 |
skin | malignant_melanoma | Substitution - Missense |
c.1372A>G; p.N458D; 9:91726555-91726555 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2382G>A; p.P794P; 9:91724112-91724112 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.108G>A; p.E36E; 9:91775808-91775808 |
skin | malignant_melanoma | Substitution - coding silent |
c.1872C>T; p.Y624Y; 9:91724622-91724622 |
skin | malignant_melanoma | Substitution - coding silent |
c.1171G>A; p.V391I; 9:91730922-91730922 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1310C>A; p.S437Y; 9:91726617-91726617 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2433G>A; p.M811I; 9:91724061-91724061 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2539G>A; p.A847T; 9:91723955-91723955 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.298G>A; p.A100T; 9:91757437-91757437 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1745C>T; p.T582M; 9:91724749-91724749 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1700T>C; p.M567T; 9:91724794-91724794 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1547C>A; p.P516H; 9:91724947-91724947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1776C>T; p.F592F; 9:91724718-91724718 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1776C>T; p.F592F; 9:91724718-91724718 |
skin | malignant_melanoma | Substitution - coding silent |
c.744G>A; p.P248P; 9:91733315-91733315 |
breast | carcinoma | Substitution - coding silent |
c.2065G>A; p.G689S; 9:91724429-91724429 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1167T>G; p.C389W; 9:91730926-91730926 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1546C>A; p.P516T; 9:91724948-91724948 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.762C>T; p.D254D; 9:91733297-91733297 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.762C>T; p.D254D; 9:91733297-91733297 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1359A>G; p.E453E; 9:91726568-91726568 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.405C>A; p.C135*; 9:91757330-91757330 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2343G>A; p.V781V; 9:91724151-91724151 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.935G>T; p.R312L; 9:91733124-91733124 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1391A>T; p.K464I; 9:91725103-91725103 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1255G>A; p.A419T; 9:91726672-91726672 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1635G>T; p.K545N; 9:91724859-91724859 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2088C>T; p.Y696Y; 9:91724406-91724406 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2088C>T; p.Y696Y; 9:91724406-91724406 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1286G>A; p.R429Q; 9:91726641-91726641 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1357G>A; p.E453K; 9:91726570-91726570 |
skin | malignant_melanoma | Substitution - Missense |
c.685C>T; p.P229S; 9:91733374-91733374 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.2748_2750delGGA; p.E917delE; 9:91723744-91723746 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.2156C>T; p.A719V; 9:91724338-91724338 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2748_2750delGGA; p.E917delE; 9:91723744-91723746 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.1992C>T; p.I664I; 9:91724502-91724502 |
skin | malignant_melanoma | Substitution - coding silent |
c.2376G>A; p.K792K; 9:91724118-91724118 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.298G>T; p.A100S; 9:91757437-91757437 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2694G>A; p.Q898Q; 9:91723800-91723800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2694G>A; p.Q898Q; 9:91723800-91723800 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2387T>C; p.F796S; 9:91724107-91724107 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1975A>G; p.M659V; 9:91724519-91724519 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1373A>G; p.N458S; 9:91726554-91726554 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.599G>A; p.G200E; 9:91737414-91737414 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>T; p.C135C; 9:91757330-91757330 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2466C>T; p.N822N; 9:91724028-91724028 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.320G>A; p.R107Q; 9:91757415-91757415 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.154G>A; p.G52S; 9:91775762-91775762 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1608C>T; p.V536V; 9:91724886-91724886 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1179G>A; p.S393S; 9:91730914-91730914 |
pancreas | carcinoma | Substitution - coding silent |
c.1179G>A; p.S393S; 9:91730914-91730914 |
liver | carcinoma | Substitution - coding silent |
c.1179G>A; p.S393S; 9:91730914-91730914 |
liver | carcinoma | Substitution - coding silent |
c.1179G>A; p.S393S; 9:91730914-91730914 |
skin | malignant_melanoma | Substitution - coding silent |
c.2362G>T; p.G788W; 9:91724132-91724132 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.639C>T; p.I213I; 9:91733420-91733420 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1539G>T; p.A513A; 9:91724955-91724955 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1495delG; p.E499fs*11; 9:91724999-91724999 |
NS | malignant_melanoma | Deletion - Frameshift |
c.1949G>A; p.G650E; 9:91724545-91724545 |
skin | malignant_melanoma | Substitution - Missense |
c.1514C>T; p.A505V; 9:91724980-91724980 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1934A>G; p.Y645C; 9:91724560-91724560 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1116G>T; p.M372I; 9:91730977-91730977 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1103C>A; p.P368H; 9:91730990-91730990 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.661G>T; p.D221Y; 9:91733398-91733398 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.434delC; p.A146fs*67; 9:91757301-91757301 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.2351C>T; p.A784V; 9:91724143-91724143 |
skin | malignant_melanoma | Substitution - Missense |
c.2170C>T; p.L724F; 9:91724324-91724324 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2633C>T; p.P878L; 9:91723861-91723861 |
skin | malignant_melanoma | Substitution - Missense |
c.263A>G; p.N88S; 9:91757472-91757472 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1225G>T; p.V409F; 9:91726702-91726702 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.980C>T; p.T327M; 9:91731113-91731113 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1207G>T; p.G403W; 9:91726720-91726720 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.980C>T; p.T327M; 9:91731113-91731113 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.265C>A; p.P89T; 9:91757470-91757470 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.362G>A; p.R121Q; 9:91757373-91757373 |
skin | malignant_melanoma | Substitution - Missense |
c.362G>A; p.R121Q; 9:91757373-91757373 |
skin | malignant_melanoma | Substitution - Missense |
c.2474_2475insC; p.Q825fs*71; 9:91724019-91724020 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Insertion - Frameshift |
c.533G>A; p.R178Q; 9:91737480-91737480 |
skin | malignant_melanoma | Substitution - Missense |
c.533G>A; p.R178Q; 9:91737480-91737480 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1017G>A; p.P339P; 9:91731076-91731076 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1387G>A; p.A463T; 9:91725107-91725107 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.905G>A; p.R302H; 9:91733154-91733154 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.538A>G; p.I180V; 9:91737475-91737475 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2603C>T; p.S868F; 9:91723891-91723891 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.905G>A; p.R302H; 9:91733154-91733154 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2153C>T; p.P718L; 9:91724341-91724341 |
skin | malignant_melanoma | Substitution - Missense |
c.2186G>A; p.W729*; 9:91724308-91724308 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2674G>C; p.E892Q; 9:91723820-91723820 |
breast | carcinoma | Substitution - Missense |
c.1078_1079GG>AT; p.G360M; 9:91731014-91731015 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.622+1G>A; p.?; 9:91737390-91737390 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.1830C>T; p.H610H; 9:91724664-91724664 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1069G>T; p.E357*; 9:91731024-91731024 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.1069G>T; p.E357*; 9:91731024-91731024 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.1069G>T; p.E357*; 9:91731024-91731024 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.2213G>A; p.R738H; 9:91724281-91724281 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1402A>T; p.I468F; 9:91725092-91725092 |
skin; mucosal | malignant_melanoma | Substitution - Missense |