| General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction |
Basic Information | |||
|---|---|---|---|
Gene ID | 79054 | ||
Name | TRPM8 | ||
The somatic mutations from COSMIC database | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2318C>T; p.S773L; 2:233970389-233970389 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.667C>A; p.R223R; 2:233942716-233942716 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1663C>T; p.P555S; 2:233963291-233963291 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1342A>C; p.T448P; 2:233955230-233955230 |
breast | carcinoma | Substitution - Missense |
c.750G>C; p.L250L; 2:233945906-233945906 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.750G>C; p.L250L; 2:233945906-233945906 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1763C>T; p.T588I; 2:233964641-233964641 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1657G>A; p.V553M; 2:233963285-233963285 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.465C>T; p.F155F; 2:233939114-233939114 |
skin | malignant_melanoma | Substitution - coding silent |
c.1684C>G; p.Q562E; 2:233963312-233963312 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.465C>T; p.F155F; 2:233939114-233939114 |
skin | malignant_melanoma | Substitution - coding silent |
c.491T>A; p.I164N; 2:233939140-233939140 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.710T>C; p.L237S; 2:233945866-233945866 |
skin | malignant_melanoma | Substitution - Missense |
c.2186C>T; p.A729V; 2:233970257-233970257 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.714C>G; p.A238A; 2:233945870-233945870 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1520G>A; p.R507Q; 2:233960933-233960933 |
NS | malignant_melanoma | Substitution - Missense |
c.925G>A; p.G309R; 2:233947138-233947138 |
skin | malignant_melanoma | Substitution - Missense |
c.2210T>G; p.V737G; 2:233970281-233970281 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1030G>A; p.E344K; 2:233950036-233950036 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.118G>A; p.D40N; 2:233930668-233930668 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1533C>T; p.I511I; 2:233960946-233960946 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.38G>T; p.R13I; 2:233926575-233926575 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1683G>A; p.L561L; 2:233963311-233963311 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2295delC; p.E768fs*16; 2:233970366-233970366 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2295delC; p.E768fs*16; 2:233970366-233970366 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2295delC; p.E768fs*16; 2:233970366-233970366 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Deletion - Frameshift |
c.1611G>T; p.K537N; 2:233961024-233961024 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1998G>T; p.Q666H; 2:233966728-233966728 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.327G>A; p.E109E; 2:233937488-233937488 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.64C>T; p.R22W; 2:233926601-233926601 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.64C>T; p.R22W; 2:233926601-233926601 |
breast | carcinoma | Substitution - Missense |
c.2900C>T; p.T967I; 2:233985826-233985826 |
skin | malignant_melanoma | Substitution - Missense |
c.1147G>T; p.E383*; 2:233953923-233953923 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1147G>T; p.E383*; 2:233953923-233953923 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1147G>T; p.E383*; 2:233953923-233953923 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2384C>T; p.T795I; 2:233980216-233980216 |
skin | malignant_melanoma | Substitution - Missense |
c.23T>A; p.L8H; 2:233926560-233926560 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1565C>T; p.T522M; 2:233960978-233960978 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1631A>G; p.D544G; 2:233961044-233961044 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1565C>T; p.T522M; 2:233960978-233960978 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1565C>T; p.T522M; 2:233960978-233960978 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1534G>A; p.A512T; 2:233960947-233960947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1672C>A; p.R558R; 2:233963300-233963300 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1111G>C; p.E371Q; 2:233950117-233950117 |
breast | carcinoma | Substitution - Missense |
c.996G>A; p.S332S; 2:233950002-233950002 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.996G>A; p.S332S; 2:233950002-233950002 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.668G>T; p.R223L; 2:233942717-233942717 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2032C>G; p.L678V; 2:233969701-233969701 |
breast | carcinoma | Substitution - Missense |
c.714C>A; p.A238A; 2:233945870-233945870 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.1256G>A; p.S419N; 2:233955144-233955144 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.9T>C; p.F3F; 2:233926546-233926546 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2885T>G; p.I962S; 2:233985811-233985811 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.10C>T; p.R4W; 2:233926547-233926547 |
skin | malignant_melanoma | Substitution - Missense |
c.794A>G; p.N265S; 2:233945950-233945950 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1045C>A; p.L349M; 2:233950051-233950051 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.366C>T; p.C122C; 2:233939015-233939015 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.295C>T; p.P99S; 2:233937456-233937456 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.246G>T; p.Q82H; 2:233937407-233937407 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.747A>T; p.P249P; 2:233945903-233945903 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1508C>T; p.T503M; 2:233960921-233960921 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.747A>T; p.P249P; 2:233945903-233945903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.81C>A; p.S27R; 2:233926618-233926618 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.446C>T; p.T149I; 2:233939095-233939095 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.747A>T; p.P249P; 2:233945903-233945903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.747A>T; p.P249P; 2:233945903-233945903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1956T>G; p.G652G; 2:233966686-233966686 |
breast | carcinoma | Substitution - coding silent |
c.746C>T; p.P249L; 2:233945902-233945902 |
skin | malignant_melanoma | Substitution - Missense |
c.477G>A; p.P159P; 2:233939126-233939126 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3023G>A; p.R1008H; 2:233996409-233996409 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.477G>A; p.P159P; 2:233939126-233939126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.878C>A; p.S293Y; 2:233947091-233947091 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.117C>T; p.S39S; 2:233926654-233926654 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.609G>A; p.R203R; 2:233942658-233942658 |
skin | malignant_melanoma | Substitution - coding silent |
c.609G>A; p.R203R; 2:233942658-233942658 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2229C>A; p.V743V; 2:233970300-233970300 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2639C>T; p.A880V; 2:233983102-233983102 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1632C>T; p.D544D; 2:233961045-233961045 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.944C>A; p.A315D; 2:233949950-233949950 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2319G>T; p.S773S; 2:233970390-233970390 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2157G>A; p.K719K; 2:233970228-233970228 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1941C>T; p.S647S; 2:233966671-233966671 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1632C>T; p.D544D; 2:233961045-233961045 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2062C>T; p.R688*; 2:233969731-233969731 |
prostate | carcinoma | Substitution - Nonsense |
c.752A>G; p.Y251C; 2:233945908-233945908 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.752A>G; p.Y251C; 2:233945908-233945908 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.759G>A; p.L253L; 2:233945915-233945915 |
skin | malignant_melanoma | Substitution - coding silent |
c.2755G>A; p.V919M; 2:233983218-233983218 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2589G>A; p.M863I; 2:233981915-233981915 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2431G>A; p.A811T; 2:233980263-233980263 |
liver | carcinoma | Substitution - Missense |
c.1442G>A; p.G481D; 2:233960855-233960855 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.303C>T; p.D101D; 2:233937464-233937464 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.545G>A; p.G182E; 2:233942594-233942594 |
skin | malignant_melanoma | Substitution - Missense |
c.2245C>T; p.L749F; 2:233970316-233970316 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2854C>T; p.P952S; 2:233985780-233985780 |
skin | malignant_melanoma | Substitution - Missense |
c.2854C>T; p.P952S; 2:233985780-233985780 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1087C>T; p.P363S; 2:233950093-233950093 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1355G>T; p.R452L; 2:233955243-233955243 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2754C>T; p.D918D; 2:233983217-233983217 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.86C>T; p.S29F; 2:233926623-233926623 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3147C>A; p.D1049E; 2:234006869-234006869 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1392G>A; p.T464T; 2:233960805-233960805 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.846G>T; p.E282D; 2:233946002-233946002 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2715C>T; p.Y905Y; 2:233983178-233983178 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1587G>A; p.A529A; 2:233961000-233961000 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1256G>T; p.S419I; 2:233955144-233955144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2090T>A; p.L697Q; 2:233969759-233969759 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.740G>C; p.R247T; 2:233945896-233945896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.740G>C; p.R247T; 2:233945896-233945896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3164G>A; p.W1055*; 2:234006886-234006886 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2199C>A; p.S733S; 2:233970270-233970270 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2216C>T; p.S739F; 2:233970287-233970287 |
breast | carcinoma | Substitution - Missense |
c.1979C>T; p.A660V; 2:233966709-233966709 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1141C>T; p.L381F; 2:233953917-233953917 |
skin | malignant_melanoma | Substitution - Missense |
c.800G>T; p.C267F; 2:233945956-233945956 |
skin | malignant_melanoma | Substitution - Missense |
c.213C>T; p.G71G; 2:233937374-233937374 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.819C>T; p.V273V; 2:233945975-233945975 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1100C>T; p.S367F; 2:233950106-233950106 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.786C>T; p.L262L; 2:233945942-233945942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3165G>A; p.W1055*; 2:234006887-234006887 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1269G>A; p.K423K; 2:233955157-233955157 |
skin | malignant_melanoma | Substitution - coding silent |
c.2219G>T; p.W740L; 2:233970290-233970290 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.228G>A; p.Q76Q; 2:233937389-233937389 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1848G>A; p.E616E; 2:233964726-233964726 |
skin | malignant_melanoma | Substitution - coding silent |
c.631G>A; p.A211T; 2:233942680-233942680 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3174C>G; p.V1058V; 2:234006896-234006896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.12G>A; p.R4R; 2:233926549-233926549 |
skin | malignant_melanoma | Substitution - coding silent |
c.542C>T; p.T181M; 2:233942591-233942591 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1300C>T; p.L434L; 2:233955188-233955188 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.861G>A; p.E287E; 2:233946017-233946017 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3035C>T; p.P1012L; 2:233996421-233996421 |
skin | malignant_melanoma | Substitution - Missense |
c.1090C>T; p.R364C; 2:233950096-233950096 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2613G>T; p.L871L; 2:233983076-233983076 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.24C>A; p.L8L; 2:233926561-233926561 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.489G>T; p.K163N; 2:233939138-233939138 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2413G>A; p.G805R; 2:233980245-233980245 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.72G>T; p.L24L; 2:233926609-233926609 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1993G>T; p.D665Y; 2:233966723-233966723 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1307G>A; p.W436*; 2:233955195-233955195 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Nonsense |
c.2195C>A; p.T732N; 2:233970266-233970266 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3231-8C>A; p.?; 2:234008062-234008062 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.3241C>T; p.R1081*; 2:234008080-234008080 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1937A>G; p.Y646C; 2:233966667-233966667 |
prostate | carcinoma | Substitution - Missense |
c.757C>A; p.L253M; 2:233945913-233945913 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1544C>T; p.S515F; 2:233960957-233960957 |
skin | malignant_melanoma | Substitution - Missense |
c.1355G>A; p.R452Q; 2:233955243-233955243 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.757C>A; p.L253M; 2:233945913-233945913 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2609T>C; p.F870S; 2:233983072-233983072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2109C>T; p.P703P; 2:233969778-233969778 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2017G>T; p.G673W; 2:233966747-233966747 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1633G>A; p.E545K; 2:233961046-233961046 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.157G>T; p.E53*; 2:233930707-233930707 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2108C>A; p.P703H; 2:233969777-233969777 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3130+1G>C; p.?; 2:233996517-233996517 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.2301C>T; p.P767P; 2:233970372-233970372 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1143C>G; p.L381L; 2:233953919-233953919 |
breast | carcinoma | Substitution - coding silent |
c.303C>A; p.D101E; 2:233937464-233937464 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.592G>T; p.D198Y; 2:233942641-233942641 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.513C>T; p.I171I; 2:233939162-233939162 |
skin | malignant_melanoma | Substitution - coding silent |
c.1624G>A; p.G542S; 2:233961037-233961037 |
skin | malignant_melanoma | Substitution - Missense |
c.513C>T; p.I171I; 2:233939162-233939162 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.171T>C; p.F57F; 2:233930721-233930721 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.811C>T; p.P271S; 2:233945967-233945967 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1042G>T; p.A348S; 2:233950048-233950048 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.153A>G; p.K51K; 2:233930703-233930703 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2682G>C; p.Q894H; 2:233983145-233983145 |
breast | carcinoma | Substitution - Missense |
c.1062C>G; p.V354V; 2:233950068-233950068 |
breast | carcinoma | Substitution - coding silent |
c.521C>A; p.S174Y; 2:233939170-233939170 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2485C>T; p.R829*; 2:233981811-233981811 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Nonsense |
c.2446C>T; p.R816W; 2:233980278-233980278 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2446C>T; p.R816W; 2:233980278-233980278 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.199G>A; p.V67M; 2:233937360-233937360 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.306C>T; p.A102A; 2:233937467-233937467 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2312T>C; p.L771P; 2:233970383-233970383 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3181G>A; p.E1061K; 2:234006903-234006903 |
skin | malignant_melanoma | Substitution - Missense |
c.2239G>A; p.A747T; 2:233970310-233970310 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2985G>T; p.K995N; 2:233996371-233996371 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2073G>T; p.K691N; 2:233969742-233969742 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1539G>T; p.K513N; 2:233960952-233960952 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.691G>A; p.D231N; 2:233942740-233942740 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1563C>A; p.L521L; 2:233960976-233960976 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1673G>A; p.R558Q; 2:233963301-233963301 |
breast | carcinoma | Substitution - Missense |
c.1563C>A; p.L521L; 2:233960976-233960976 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2872C>T; p.P958S; 2:233985798-233985798 |
skin | malignant_melanoma | Substitution - Missense |
c.2872C>T; p.P958S; 2:233985798-233985798 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1005C>T; p.I335I; 2:233950011-233950011 |
skin | malignant_melanoma | Substitution - coding silent |
c.1005C>T; p.I335I; 2:233950011-233950011 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2274G>A; p.M758I; 2:233970345-233970345 |
skin | malignant_melanoma | Substitution - Missense |
c.2946G>A; p.T982T; 2:233996332-233996332 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2294_2295insC; p.E768fs*14; 2:233970365-233970366 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2294_2295insC; p.E768fs*14; 2:233970365-233970366 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3242G>A; p.R1081Q; 2:234008081-234008081 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.84G>A; p.A28A; 2:233926621-233926621 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.869T>A; p.I290N; 2:233946025-233946025 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.607A>G; p.R203G; 2:233942656-233942656 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.350A>G; p.Y117C; 2:233938999-233938999 |
liver | carcinoma | Substitution - Missense |
c.3216C>T; p.N1072N; 2:234006938-234006938 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2285C>T; p.S762L; 2:233970356-233970356 |
skin | malignant_melanoma | Substitution - Missense |
c.2285C>T; p.S762L; 2:233970356-233970356 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.350A>G; p.Y117C; 2:233938999-233938999 |
liver | carcinoma | Substitution - Missense |
c.180T>G; p.D60E; 2:233930730-233930730 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2285C>T; p.S762L; 2:233970356-233970356 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.617A>C; p.E206A; 2:233942666-233942666 |
pancreas | carcinoma | Substitution - Missense |
c.430C>T; p.L144L; 2:233939079-233939079 |
skin | malignant_melanoma | Substitution - coding silent |
c.2244C>G; p.F748L; 2:233970315-233970315 |
breast | carcinoma | Substitution - Missense |
c.110G>A; p.S37N; 2:233926647-233926647 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.2147C>T; p.P716L; 2:233970218-233970218 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2611C>T; p.L871L; 2:233983074-233983074 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2611C>T; p.L871L; 2:233983074-233983074 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2768C>T; p.T923M; 2:233985694-233985694 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2624C>T; p.A875V; 2:233983087-233983087 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.140C>A; p.A47E; 2:233930690-233930690 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.1881G>A; p.E627E; 2:233966611-233966611 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1378G>T; p.E460*; 2:233960791-233960791 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1096G>A; p.V366M; 2:233950102-233950102 |
skin | malignant_melanoma | Substitution - Missense |
c.3091T>C; p.C1031R; 2:233996477-233996477 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2139G>A; p.R713R; 2:233970210-233970210 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1569_1572delTGTC; p.V524fs*24; 2:233960982-233960985 |
liver | carcinoma | Deletion - Frameshift |
c.1870C>T; p.R624W; 2:233964748-233964748 |
skin | malignant_melanoma | Substitution - Missense |
c.247A>T; p.I83F; 2:233937408-233937408 |
breast | carcinoma | Substitution - Missense |
c.339G>T; p.K113N; 2:233937500-233937500 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2205C>T; p.F735F; 2:233970276-233970276 |
skin | malignant_melanoma | Substitution - coding silent |
c.3264+2T>C; p.?; 2:234008105-234008105 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.3054C>T; p.F1018F; 2:233996440-233996440 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1401A>T; p.I467I; 2:233960814-233960814 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.599C>T; p.T200I; 2:233942648-233942648 |
skin | malignant_melanoma | Substitution - Missense |
c.3069G>A; p.M1023I; 2:233996455-233996455 |
skin | malignant_melanoma | Substitution - Missense |
c.1091G>A; p.R364H; 2:233950097-233950097 |
pancreas | carcinoma | Substitution - Missense |
c.1519C>T; p.R507W; 2:233960932-233960932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2206G>A; p.V736M; 2:233970277-233970277 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1364C>T; p.S455F; 2:233960777-233960777 |
skin | malignant_melanoma | Substitution - Missense |
c.1195_1196GC>AT; p.A399I; 2:233953971-233953972 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2845C>A; p.P949T; 2:233985771-233985771 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3067A>T; p.M1023L; 2:233996453-233996453 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.89G>A; p.R30Q; 2:233926626-233926626 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1869C>A; p.T623T; 2:233964747-233964747 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2073G>A; p.K691K; 2:233969742-233969742 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1680C>T; p.P560P; 2:233963308-233963308 |
skin | malignant_melanoma | Substitution - coding silent |
c.2990A>G; p.Q997R; 2:233996376-233996376 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1321T>G; p.L441V; 2:233955209-233955209 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2705C>T; p.S902L; 2:233983168-233983168 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.920G>A; p.G307E; 2:233947133-233947133 |
skin | malignant_melanoma | Substitution - Missense |
c.2705C>T; p.S902L; 2:233983168-233983168 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.132T>C; p.F44F; 2:233930682-233930682 |
skin | malignant_melanoma | Substitution - coding silent |
c.173_174CC>TT; p.T58I; 2:233930723-233930724 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3048C>T; p.I1016I; 2:233996434-233996434 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1627C>T; p.R543W; 2:233961040-233961040 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1627C>T; p.R543W; 2:233961040-233961040 |
large_intestine; rectum | NS | Substitution - Missense |
c.192-1G>A; p.?; 2:233937352-233937352 |
breast | carcinoma | Unknown |
c.2700C>T; p.F900F; 2:233983163-233983163 |
skin | malignant_melanoma | Substitution - coding silent |
c.1659G>A; p.V553V; 2:233963287-233963287 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.621G>T; p.E207D; 2:233942670-233942670 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.787G>A; p.V263M; 2:233945943-233945943 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1331A>G; p.D444G; 2:233955219-233955219 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.690C>T; p.C230C; 2:233942739-233942739 |
pancreas | carcinoma | Substitution - coding silent |
c.1891G>A; p.E631K; 2:233966621-233966621 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.690C>T; p.C230C; 2:233942739-233942739 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1871G>A; p.R624Q; 2:233964749-233964749 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2079G>A; p.W693*; 2:233969748-233969748 |
breast | carcinoma | Substitution - Nonsense |
c.2705C>A; p.S902*; 2:233983168-233983168 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3034C>T; p.P1012S; 2:233996420-233996420 |
skin | malignant_melanoma | Substitution - Missense |
c.1590C>A; p.N530K; 2:233961003-233961003 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.65G>A; p.R22Q; 2:233926602-233926602 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.65G>A; p.R22Q; 2:233926602-233926602 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.65G>A; p.R22Q; 2:233926602-233926602 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.81C>T; p.S27S; 2:233926618-233926618 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.117+1G>A; p.?; 2:233926655-233926655 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2152G>A; p.D718N; 2:233970223-233970223 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2152G>A; p.D718N; 2:233970223-233970223 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>A; p.E274K; 2:233945976-233945976 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.640A>G; p.I214V; 2:233942689-233942689 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.684G>T; p.R228S; 2:233942733-233942733 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2269C>A; p.L757I; 2:233970340-233970340 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1591T>G; p.F531V; 2:233961004-233961004 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.192G>A; p.T64T; 2:233937353-233937353 |
breast | carcinoma | Substitution - coding silent |
c.1436A>G; p.E479G; 2:233960849-233960849 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1237T>C; p.Y413H; 2:233954013-233954013 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.301G>A; p.D101N; 2:233937462-233937462 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2856C>T; p.P952P; 2:233985782-233985782 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.454G>A; p.A152T; 2:233939103-233939103 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.454G>A; p.A152T; 2:233939103-233939103 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.118-1_118GG>AA; p.?; 2:233930667-233930668 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.3240T>C; p.H1080H; 2:234008079-234008079 |
pancreas | carcinoma | Substitution - coding silent |
c.453C>A; p.G151G; 2:233939102-233939102 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1806C>T; p.A602A; 2:233964684-233964684 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3215A>G; p.N1072S; 2:234006937-234006937 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3131-4C>T; p.?; 2:234006849-234006849 |
skin; trunk | malignant_melanoma; nodular | Unknown |
c.1245C>T; p.A415A; 2:233955133-233955133 |
skin | malignant_melanoma | Substitution - coding silent |
c.1405G>C; p.D469H; 2:233960818-233960818 |
skin | malignant_melanoma | Substitution - Missense |
c.1690C>A; p.L564I; 2:233963318-233963318 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1491C>A; p.F497L; 2:233960904-233960904 |
liver | carcinoma | Substitution - Missense |
c.453C>T; p.G151G; 2:233939102-233939102 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.538C>T; p.L180F; 2:233942587-233942587 |
skin | malignant_melanoma | Substitution - Missense |
c.3230+1G>A; p.?; 2:234006953-234006953 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.3078G>T; p.K1026N; 2:233996464-233996464 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3239A>T; p.H1080L; 2:234008078-234008078 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1619G>A; p.R540K; 2:233961032-233961032 |
skin | malignant_melanoma | Substitution - Missense |
c.65G>T; p.R22L; 2:233926602-233926602 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |