General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 2066 |
Name | ERBB4 |
Synonymous | erb-b2 receptor tyrosine kinase 4;ERBB4;erb-b2 receptor tyrosine kinase 4 |
Definition | avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4|human epidermal growth factor receptor 4|proto-oncogene-like protein c-ErbB-4|receptor tyrosine-protein kinase erbB-4|tyrosine kinase-type cell surface receptor HER4|v-erb-a erythroblastic |
Position | 2q33.3-q34 |
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 0.10. |
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.1793A>T; p.Q598L; 2:211665401-211665401 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.226T>C; p.F76L; 2:212124760-212124760 |
skin | malignant_melanoma | Substitution - Missense |
c.1687G>A; p.E563K; 2:211673193-211673193 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1695C>T; p.G565G; 2:211673185-211673185 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1553A>G; p.D518G; 2:211679121-211679121 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.115C>T; p.L39F; 2:212124871-212124871 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.1740C>A; p.C580*; 2:211665454-211665454 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1687G>A; p.E563K; 2:211673193-211673193 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1058T>A; p.I353N; 2:211712116-211712116 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3037T>C; p.L1013L; 2:211420539-211420539 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3092C>T; p.P1031L; 2:211420484-211420484 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3033G>A; p.E1011E; 2:211420543-211420543 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2229T>C; p.T743T; 2:211619249-211619249 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3073C>T; p.P1025S; 2:211420503-211420503 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3748C>T; p.R1250W; 2:211383794-211383794 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1851C>T; p.C617C; 2:211665343-211665343 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3225A>G; p.Q1075Q; 2:211387109-211387109 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.278A>C; p.Q93P; 2:211947573-211947573 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1981C>G; p.L661V; 2:211630560-211630560 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.390A>G; p.G130G; 2:211947461-211947461 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1549C>G; p.P517A; 2:211679125-211679125 |
skin | malignant_melanoma | Substitution - Missense |
c.2638G>A; p.G880R; 2:211430950-211430950 |
skin | malignant_melanoma | Substitution - Missense |
c.3005A>C; p.K1002T; 2:211420571-211420571 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2782G>T; p.E928*; 2:211424239-211424239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3648G>A; p.L1216L; 2:211383894-211383894 |
skin | malignant_melanoma | Substitution - coding silent |
c.2326G>A; p.D776N; 2:211562064-211562064 |
skin | malignant_melanoma | Substitution - Missense |
c.2747T>G; p.F916C; 2:211424274-211424274 |
kidney | other; neoplasm | Substitution - Missense |
c.3428G>A; p.G1143E; 2:211386906-211386906 |
skin | malignant_melanoma | Substitution - Missense |
c.3195A>G; p.V1065V; 2:211387139-211387139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3195A>G; p.V1065V; 2:211387139-211387139 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3005A>C; p.K1002T; 2:211420571-211420571 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2644-2A>T; p.?; 2:211428485-211428485 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.2782G>T; p.E928*; 2:211424239-211424239 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3172C>T; p.P1058S; 2:211387956-211387956 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.2326G>A; p.D776N; 2:211562064-211562064 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.541A>G; p.N181D; 2:211788040-211788040 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2540G>A; p.R847H; 2:211431048-211431048 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2987C>T; p.P996L; 2:211420589-211420589 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2720G>A; p.G907E; 2:211424301-211424301 |
skin | malignant_melanoma | Substitution - Missense |
c.956G>A; p.G319E; 2:211713576-211713576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1835G>A; p.R612Q; 2:211665359-211665359 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.456C>A; p.N152K; 2:211788125-211788125 |
liver | carcinoma | Substitution - Missense |
c.2518G>A; p.V840I; 2:211431070-211431070 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2749G>A; p.G917R; 2:211424272-211424272 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1242C>T; p.F414F; 2:211704151-211704151 |
skin | malignant_melanoma | Substitution - coding silent |
c.300G>A; p.E100E; 2:211947551-211947551 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3187C>A; p.Q1063K; 2:211387147-211387147 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2518G>A; p.V840I; 2:211431070-211431070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3329C>T; p.T1110I; 2:211387005-211387005 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.887A>C; p.N296T; 2:211713645-211713645 |
pancreas | carcinoma | Substitution - Missense |
c.2159G>T; p.R720M; 2:211623965-211623965 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1720C>A; p.P574T; 2:211665474-211665474 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3417G>C; p.R1139R; 2:211386917-211386917 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2806G>A; p.G936R; 2:211424215-211424215 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.2806G>A; p.G936R; 2:211424215-211424215 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.3350C>T; p.P1117L; 2:211386984-211386984 |
skin | malignant_melanoma | Substitution - Missense |
c.731C>G; p.T244R; 2:211725086-211725086 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.422-8delT; p.?; 2:211788167-211788167 |
skin | carcinoma | Unknown |
c.1367G>A; p.G456E; 2:211702089-211702089 |
skin | malignant_melanoma | Substitution - Missense |
c.3253A>C; p.T1085P; 2:211387081-211387081 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3270A>G; p.E1090E; 2:211387064-211387064 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1855C>G; p.P619A; 2:211665339-211665339 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1630C>T; p.R544W; 2:211673250-211673250 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1855C>G; p.P619A; 2:211665339-211665339 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3270A>G; p.E1090E; 2:211387064-211387064 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.139C>G; p.R47G; 2:212124847-212124847 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2936G>A; p.R979Q; 2:211422035-211422035 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2428G>A; p.E810K; 2:211561962-211561962 |
skin | malignant_melanoma | Substitution - Missense |
c.2577C>T; p.I859I; 2:211431011-211431011 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2046G>T; p.K682N; 2:211630495-211630495 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3352C>A; p.H1118N; 2:211386982-211386982 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2428G>A; p.E810K; 2:211561962-211561962 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.307C>T; p.R103C; 2:211947544-211947544 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.916C>T; p.R306C; 2:211713616-211713616 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.916C>T; p.R306C; 2:211713616-211713616 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.307C>T; p.R103C; 2:211947544-211947544 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3009C>A; p.F1003L; 2:211420567-211420567 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2778G>A; p.T926T; 2:211424243-211424243 |
large_intestine; caecum | adenoma | Substitution - coding silent |
c.3668A>G; p.K1223R; 2:211383874-211383874 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.419C>T; p.T140I; 2:211947432-211947432 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.419C>T; p.T140I; 2:211947432-211947432 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.885T>G; p.H295Q; 2:211713647-211713647 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.3184-1G>A; p.?; 2:211387151-211387151 |
skin; scalp | malignant_melanoma | Unknown |
c.2804A>G; p.K935R; 2:211424217-211424217 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2804A>G; p.K935R; 2:211424217-211424217 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3375C>T; p.T1125T; 2:211386959-211386959 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2962C>T; p.Q988*; 2:211422009-211422009 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.633G>A; p.T211T; 2:211725184-211725184 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.633G>A; p.T211T; 2:211725184-211725184 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2143G>A; p.E715K; 2:211623981-211623981 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3190T>C; p.F1064L; 2:211387144-211387144 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.756C>A; p.F252L; 2:211722520-211722520 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1423A>C; p.T475P; 2:211702033-211702033 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2148T>C; p.T716T; 2:211623976-211623976 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1423A>C; p.T475P; 2:211702033-211702033 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1711G>A; p.G571R; 2:211673169-211673169 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3007T>G; p.F1003V; 2:211420569-211420569 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2222G>A; p.G741E; 2:211619256-211619256 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2632G>A; p.D878N; 2:211430956-211430956 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.11C>A; p.A4E; 2:212538520-212538520 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2965-10T>G; p.?; 2:211420621-211420621 |
prostate | carcinoma | Unknown |
c.3530_3531insA; p.N1177fs*9; 2:211384011-211384012 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.3005A>G; p.K1002R; 2:211420571-211420571 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.793A>G; p.T265A; 2:211722483-211722483 |
liver | carcinoma | Substitution - Missense |
c.793A>G; p.T265A; 2:211722483-211722483 |
liver | carcinoma | Substitution - Missense |
c.904A>G; p.S302G; 2:211713628-211713628 |
liver | carcinoma | Substitution - Missense |
c.620C>G; p.T207S; 2:211750641-211750641 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.515C>G; p.P172R; 2:211788066-211788066 |
breast | carcinoma | Substitution - Missense |
c.1659G>T; p.V553V; 2:211673221-211673221 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3320G>C; p.C1107S; 2:211387014-211387014 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.732A>G; p.T244T; 2:211725085-211725085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2633A>T; p.D878V; 2:211430955-211430955 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1105C>A; p.L369I; 2:211712069-211712069 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1105C>A; p.L369I; 2:211712069-211712069 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3844C>G; p.P1282A; 2:211383698-211383698 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.167G>A; p.C56Y; 2:212124819-212124819 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3270A>C; p.E1090D; 2:211387064-211387064 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1105C>A; p.L369I; 2:211712069-211712069 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.732A>G; p.T244T; 2:211725085-211725085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.228C>G; p.F76L; 2:212124758-212124758 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.319delG; p.T108fs*14; 2:211947532-211947532 |
kidney | carcinoma; renal_cell_carcinoma | Deletion - Frameshift |
c.2604G>C; p.L868F; 2:211430984-211430984 |
kidney | other; neoplasm | Substitution - Missense |
c.957G>T; p.G319G; 2:211713575-211713575 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.56C>T; p.T19I; 2:212538475-212538475 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1828C>A; p.P610T; 2:211665366-211665366 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.575C>T; p.S192F; 2:211750686-211750686 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.646C>T; p.Q216*; 2:211725171-211725171 |
prostate | adenoma | Substitution - Nonsense |
c.2604G>C; p.L868F; 2:211430984-211430984 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3497T>A; p.V1166E; 2:211384045-211384045 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3158C>T; p.P1053L; 2:211387970-211387970 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2643+5G>T; p.?; 2:211430940-211430940 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.149G>A; p.R50H; 2:212124837-212124837 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2108C>A; p.T703K; 2:211624016-211624016 |
breast | carcinoma | Substitution - Missense |
c.137A>G; p.Y46C; 2:212124849-212124849 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2905G>A; p.E969K; 2:211422066-211422066 |
skin | malignant_melanoma | Substitution - Missense |
c.2905G>A; p.E969K; 2:211422066-211422066 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.2413T>G; p.L805V; 2:211561977-211561977 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3388G>T; p.A1130S; 2:211386946-211386946 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2667G>A; p.L889L; 2:211428460-211428460 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1984T>C; p.F662L; 2:211630557-211630557 |
skin | malignant_melanoma | Substitution - Missense |
c.97G>A; p.E33K; 2:212124889-212124889 |
skin | malignant_melanoma | Substitution - Missense |
c.1161G>T; p.E387D; 2:211705355-211705355 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.551C>T; p.S184L; 2:211788030-211788030 |
breast | carcinoma | Substitution - Missense |
c.1984T>C; p.F662L; 2:211630557-211630557 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.542A>G; p.N181S; 2:211788039-211788039 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1740C>T; p.C580C; 2:211665454-211665454 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.27C>G; p.V9V; 2:212538504-212538504 |
skin | malignant_melanoma | Substitution - coding silent |
c.1565C>T; p.S522L; 2:211679109-211679109 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1853A>G; p.H618R; 2:211665341-211665341 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.462C>T; p.F154F; 2:211788119-211788119 |
skin | malignant_melanoma | Substitution - coding silent |
c.2252A>C; p.K751T; 2:211619226-211619226 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1042G>T; p.V348L; 2:211712132-211712132 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1287T>C; p.Y429Y; 2:211704106-211704106 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1537T>C; p.W513R; 2:211679137-211679137 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2764G>A; p.D922N; 2:211424257-211424257 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1324A>G; p.I442V; 2:211702132-211702132 |
liver | carcinoma | Substitution - Missense |
c.1324A>G; p.I442V; 2:211702132-211702132 |
liver | carcinoma | Substitution - Missense |
c.3065A>G; p.Y1022C; 2:211420511-211420511 |
breast | carcinoma | Substitution - Missense |
c.3911G>T; p.R1304L; 2:211383631-211383631 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2867-4C>T; p.?; 2:211422108-211422108 |
skin; face | malignant_melanoma | Unknown |
c.2060G>T; p.R687I; 2:211630481-211630481 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1956G>T; p.L652L; 2:211630585-211630585 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1715C>T; p.P572L; 2:211673165-211673165 |
skin | malignant_melanoma | Substitution - Missense |
c.1246_1247insT; p.S418fs*2; 2:211704146-211704147 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2394T>A; p.L798L; 2:211561996-211561996 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3668A>T; p.K1223M; 2:211383874-211383874 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3021C>T; p.L1007L; 2:211420555-211420555 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2824C>T; p.P942S; 2:211424197-211424197 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3020T>C; p.L1007P; 2:211420556-211420556 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1853A>C; p.H618P; 2:211665341-211665341 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3613G>A; p.E1205K; 2:211383929-211383929 |
breast | carcinoma | Substitution - Missense |
c.3266C>T; p.P1089L; 2:211387068-211387068 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2205T>G; p.G735G; 2:211619273-211619273 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.50C>G; p.A17G; 2:212538481-212538481 |
stomach | carcinoma | Substitution - Missense |
c.3595G>A; p.E1199K; 2:211383947-211383947 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3135G>A; p.R1045R; 2:211420441-211420441 |
pancreas | carcinoma | Substitution - coding silent |
c.908C>T; p.S303F; 2:211713624-211713624 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3207A>G; p.G1069G; 2:211387127-211387127 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2614G>A; p.E872K; 2:211430974-211430974 |
skin; face | malignant_melanoma | Substitution - Missense |
c.1678G>A; p.E560K; 2:211673202-211673202 |
skin | malignant_melanoma | Substitution - Missense |
c.908C>T; p.S303F; 2:211713624-211713624 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2614G>A; p.E872K; 2:211430974-211430974 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2614G>A; p.E872K; 2:211430974-211430974 |
skin | malignant_melanoma | Substitution - Missense |
c.2393T>C; p.L798P; 2:211561997-211561997 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.380G>A; p.G127E; 2:211947471-211947471 |
skin | malignant_melanoma | Substitution - Missense |
c.908C>T; p.S303F; 2:211713624-211713624 |
breast | carcinoma | Substitution - Missense |
c.3227G>A; p.G1076E; 2:211387107-211387107 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2194G>T; p.V732F; 2:211623930-211623930 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1055A>G; p.N352S; 2:211712119-211712119 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3116C>A; p.A1039E; 2:211420460-211420460 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3837A>T; p.A1279A; 2:211383705-211383705 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2728A>G; p.I910V; 2:211424293-211424293 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.266T>C; p.V89A; 2:211947585-211947585 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.317G>A; p.R106H; 2:211947534-211947534 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.741+6T>C; p.?; 2:211725070-211725070 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2805A>G; p.K935K; 2:211424216-211424216 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.545G>A; p.G182D; 2:211788036-211788036 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.3157C>T; p.P1053S; 2:211387971-211387971 |
skin | malignant_melanoma | Substitution - Missense |
c.3305T>G; p.F1102C; 2:211387029-211387029 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.808C>A; p.P270T; 2:211722468-211722468 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3305T>G; p.F1102C; 2:211387029-211387029 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.461T>G; p.F154C; 2:211788120-211788120 |
skin | malignant_melanoma | Substitution - Missense |
c.958A>T; p.I320F; 2:211713574-211713574 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3305T>G; p.F1102C; 2:211387029-211387029 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1158A>T; p.P386P; 2:211705358-211705358 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3652A>T; p.K1218*; 2:211383890-211383890 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2393T>G; p.L798R; 2:211561997-211561997 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.951A>G; p.E317E; 2:211713581-211713581 |
breast | carcinoma | Substitution - coding silent |
c.1467C>A; p.D489E; 2:211701989-211701989 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1169A>T; p.N390I; 2:211705347-211705347 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3430G>C; p.E1144Q; 2:211386904-211386904 |
breast | carcinoma | Substitution - Missense |
c.2393T>G; p.L798R; 2:211561997-211561997 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.557-1G>T; p.?; 2:211750705-211750705 |
breast | carcinoma | Unknown |
c.1934C>T; p.P645L; 2:211657766-211657766 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3024G>A; p.L1008L; 2:211420552-211420552 |
breast | carcinoma | Substitution - coding silent |
c.3873G>C; p.K1291N; 2:211383669-211383669 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2807G>A; p.G936E; 2:211424214-211424214 |
skin | malignant_melanoma | Substitution - Missense |
c.2807G>A; p.G936E; 2:211424214-211424214 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2840T>C; p.I947T; 2:211424181-211424181 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.630G>T; p.R210S; 2:211725187-211725187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3380G>A; p.R1127K; 2:211386954-211386954 |
skin | malignant_melanoma | Substitution - Missense |
c.466T>C; p.C156R; 2:211788115-211788115 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2379G>T; p.Q793H; 2:211562011-211562011 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2744C>G; p.T915S; 2:211424277-211424277 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3331C>A; p.L1111I; 2:211387003-211387003 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1147G>A; p.A383T; 2:211705369-211705369 |
skin | malignant_melanoma | Substitution - Missense |
c.3698C>G; p.A1233G; 2:211383844-211383844 |
stomach | adenocarcinoma | Substitution - Missense |
c.1374C>T; p.I458I; 2:211702082-211702082 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2911G>A; p.A971T; 2:211422060-211422060 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2263G>A; p.E755K; 2:211619215-211619215 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1757G>A; p.G586D; 2:211665437-211665437 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.236C>T; p.S79F; 2:211947615-211947615 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2468G>T; p.W823L; 2:211561922-211561922 |
liver | carcinoma | Substitution - Missense |
c.2395A>T; p.M799L; 2:211561995-211561995 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2468G>T; p.W823L; 2:211561922-211561922 |
liver | carcinoma | Substitution - Missense |
c.1381A>G; p.T461A; 2:211702075-211702075 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2405G>T; p.G802V; 2:211561985-211561985 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.308G>T; p.R103L; 2:211947543-211947543 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2707G>T; p.V903F; 2:211428420-211428420 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3902A>G; p.Y1301C; 2:211383640-211383640 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1717-10C>T; p.?; 2:211665487-211665487 |
skin; knee | malignant_melanoma | Unknown |
c.2791G>T; p.D931Y; 2:211424230-211424230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3672C>A; p.N1224K; 2:211383870-211383870 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.908C>A; p.S303Y; 2:211713624-211713624 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.908C>A; p.S303Y; 2:211713624-211713624 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787C>A; p.P263T; 2:211722489-211722489 |
liver | carcinoma | Substitution - Missense |
c.1766G>T; p.C589F; 2:211665428-211665428 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1253C>T; p.S418F; 2:211704140-211704140 |
skin | malignant_melanoma | Substitution - Missense |
c.2891G>A; p.R964K; 2:211422080-211422080 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1375T>A; p.Y459N; 2:211702081-211702081 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1879G>A; p.G627S; 2:211657821-211657821 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3725A>G; p.Y1242C; 2:211383817-211383817 |
breast | carcinoma | Substitution - Missense |
c.2368C>T; p.P790S; 2:211562022-211562022 |
NS | malignant_melanoma | Substitution - Missense |
c.2564A>C; p.N855T; 2:211431024-211431024 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3725A>G; p.Y1242C; 2:211383817-211383817 |
breast | carcinoma | Substitution - Missense |
c.1159G>C; p.E387Q; 2:211705357-211705357 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3738C>A; p.S1246R; 2:211383804-211383804 |
lung | carcinoma | Substitution - Missense |
c.2560C>T; p.P854S; 2:211431028-211431028 |
NS | malignant_melanoma | Substitution - Missense |
c.795C>A; p.T265T; 2:211722481-211722481 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2560C>T; p.P854S; 2:211431028-211431028 |
skin | malignant_melanoma | Substitution - Missense |
c.389G>A; p.G130E; 2:211947462-211947462 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2845G>A; p.V949I; 2:211424176-211424176 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2401delC; p.H801fs*27; 2:211561989-211561989 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3167A>T; p.Y1056F; 2:211387961-211387961 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2845G>A; p.V949I; 2:211424176-211424176 |
pancreas | carcinoma | Substitution - Missense |
c.1880G>A; p.G627D; 2:211657820-211657820 |
skin | malignant_melanoma | Substitution - Missense |
c.1748T>A; p.F583Y; 2:211665446-211665446 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.718G>T; p.G240*; 2:211725099-211725099 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2320A>G; p.S774G; 2:211562070-211562070 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3919G>T; p.V1307L; 2:211383623-211383623 |
thyroid | carcinoma | Substitution - Missense |
c.2320A>G; p.S774G; 2:211562070-211562070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.124C>T; p.L42L; 2:212124862-212124862 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.463C>T; p.L155F; 2:211788118-211788118 |
skin | malignant_melanoma | Substitution - Missense |
c.854A>G; p.Y285C; 2:211722422-211722422 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1042G>A; p.V348M; 2:211712132-211712132 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1744C>T; p.H582Y; 2:211665450-211665450 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1042G>A; p.V348M; 2:211712132-211712132 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2971G>A; p.D991N; 2:211420605-211420605 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2971G>A; p.D991N; 2:211420605-211420605 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2565C>A; p.N855K; 2:211431023-211431023 |
large_intestine; rectum | NS | Substitution - Missense |
c.1462C>T; p.R488W; 2:211701994-211701994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3425G>A; p.R1142Q; 2:211386909-211386909 |
skin | malignant_melanoma | Substitution - Missense |
c.1462C>T; p.R488W; 2:211701994-211701994 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1354G>A; p.E452K; 2:211702102-211702102 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.1354G>A; p.E452K; 2:211702102-211702102 |
skin; knee | malignant_melanoma | Substitution - Missense |
c.1018G>T; p.G340*; 2:211712156-211712156 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.882A>G; p.P294P; 2:211722394-211722394 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1994T>C; p.V665A; 2:211630547-211630547 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1252_1253insT; p.S418fs*2; 2:211704140-211704141 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2698C>T; p.Q900*; 2:211428429-211428429 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2093T>A; p.L698*; 2:211624031-211624031 |
pancreas | carcinoma | Substitution - Nonsense |
c.2615A>T; p.E872V; 2:211430973-211430973 |
liver | carcinoma | Substitution - Missense |
c.3691G>A; p.E1231K; 2:211383851-211383851 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2116A>G; p.N706D; 2:211624008-211624008 |
pancreas | carcinoma | Substitution - Missense |
c.3185A>G; p.N1062S; 2:211387149-211387149 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2398C>T; p.P800S; 2:211561992-211561992 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2701A>T; p.S901C; 2:211428426-211428426 |
large_intestine; rectum | NS | Substitution - Missense |
c.3587C>T; p.P1196L; 2:211383955-211383955 |
skin | malignant_melanoma | Substitution - Missense |
c.939G>A; p.M313I; 2:211713593-211713593 |
skin; face | malignant_melanoma | Substitution - Missense |
c.1561C>A; p.L521M; 2:211679113-211679113 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1419C>G; p.N473K; 2:211702037-211702037 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2804A>C; p.K935T; 2:211424217-211424217 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1784A>T; p.D595V; 2:211665410-211665410 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.940G>T; p.E314*; 2:211713592-211713592 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.58G>A; p.V20I; 2:212538473-212538473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.803A>G; p.Y268C; 2:211722473-211722473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3394C>T; p.P1132S; 2:211386940-211386940 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.878G>T; p.C293F; 2:211722398-211722398 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2668G>A; p.E890K; 2:211428459-211428459 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3737G>A; p.S1246N; 2:211383805-211383805 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.3737G>A; p.S1246N; 2:211383805-211383805 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.3504G>T; p.E1168D; 2:211384038-211384038 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3087C>T; p.N1029N; 2:211420489-211420489 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3891G>C; p.P1297P; 2:211383651-211383651 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.750G>T; p.M250I; 2:211722526-211722526 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.87T>C; p.C29C; 2:212124899-212124899 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3668A>C; p.K1223T; 2:211383874-211383874 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3891G>A; p.P1297P; 2:211383651-211383651 |
pancreas | carcinoma | Substitution - coding silent |
c.3891G>A; p.P1297P; 2:211383651-211383651 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2152C>A; p.L718M; 2:211623972-211623972 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3668A>C; p.K1223T; 2:211383874-211383874 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3891G>A; p.P1297P; 2:211383651-211383651 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.496A>T; p.I166F; 2:211788085-211788085 |
skin | malignant_melanoma | Substitution - Missense |
c.3756C>T; p.T1252T; 2:211383786-211383786 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.496A>T; p.I166F; 2:211788085-211788085 |
skin | malignant_melanoma | Substitution - Missense |
c.2600T>C; p.L867P; 2:211430988-211430988 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2058G>C; p.L686F; 2:211630483-211630483 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.2127A>C; p.Q709H; 2:211623997-211623997 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2646G>A; p.M882I; 2:211428481-211428481 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2665C>T; p.L889L; 2:211428462-211428462 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3855C>T; p.L1285L; 2:211383687-211383687 |
skin | malignant_melanoma | Substitution - coding silent |
c.569A>G; p.H190R; 2:211750692-211750692 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2154G>A; p.L718L; 2:211623970-211623970 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3488T>C; p.L1163P; 2:211384054-211384054 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2843A>T; p.D948V; 2:211424178-211424178 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2867-1G>A; p.?; 2:211422105-211422105 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2719+1G>A; p.?; 2:211428407-211428407 |
skin | malignant_melanoma | Unknown |
c.2832C>A; p.I944I; 2:211424189-211424189 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1499G>A; p.G500E; 2:211679175-211679175 |
liver | carcinoma | Substitution - Missense |
c.483T>G; p.I161M; 2:211788098-211788098 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1781C>A; p.P594Q; 2:211665413-211665413 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1499G>A; p.G500E; 2:211679175-211679175 |
breast | carcinoma | Substitution - Missense |
c.1656T>C; p.C552C; 2:211673224-211673224 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2620G>T; p.E874*; 2:211430968-211430968 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.3910C>T; p.R1304W; 2:211383632-211383632 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.2620G>T; p.E874*; 2:211430968-211430968 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1781C>A; p.P594Q; 2:211665413-211665413 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.483T>G; p.I161M; 2:211788098-211788098 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2681A>G; p.Y894C; 2:211428446-211428446 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1074C>A; p.N358K; 2:211712100-211712100 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1918G>T; p.G640C; 2:211657782-211657782 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.447A>G; p.V149V; 2:211788134-211788134 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.909T>C; p.S303S; 2:211713623-211713623 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.909T>C; p.S303S; 2:211713623-211713623 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1344G>T; p.Q448H; 2:211702112-211702112 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.290T>C; p.L97P; 2:211947561-211947561 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2461C>A; p.L821I; 2:211561929-211561929 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3890C>T; p.P1297L; 2:211383652-211383652 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3890C>T; p.P1297L; 2:211383652-211383652 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2129T>G; p.L710R; 2:211623995-211623995 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2129T>G; p.L710R; 2:211623995-211623995 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.504delG; p.N169fs*7; 2:211788077-211788077 |
liver | carcinoma | Deletion - Frameshift |
c.3402G>T; p.V1134V; 2:211386932-211386932 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2192C>T; p.T731M; 2:211623932-211623932 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1294C>A; p.L432M; 2:211702162-211702162 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1431C>G; p.L477L; 2:211702025-211702025 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.1431C>G; p.L477L; 2:211702025-211702025 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.1431C>G; p.L477L; 2:211702025-211702025 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.1431C>G; p.L477L; 2:211702025-211702025 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.331T>C; p.Y111H; 2:211947520-211947520 |
skin; face | malignant_melanoma | Substitution - Missense |
c.2506G>A; p.E836K; 2:211431082-211431082 |
skin; forearm | malignant_melanoma | Substitution - Missense |
c.2230G>T; p.V744L; 2:211619248-211619248 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2169C>T; p.V723V; 2:211623955-211623955 |
skin | malignant_melanoma | Substitution - coding silent |
c.1403A>T; p.Y468F; 2:211702053-211702053 |
liver | carcinoma | Substitution - Missense |
c.1016C>A; p.T339K; 2:211712158-211712158 |
liver | carcinoma | Substitution - Missense |
c.815C>T; p.T272I; 2:211722461-211722461 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.2539C>A; p.R847S; 2:211431049-211431049 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2910G>A; p.L970L; 2:211422061-211422061 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2539C>T; p.R847C; 2:211431049-211431049 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.911G>T; p.C304F; 2:211713621-211713621 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2827C>T; p.P943S; 2:211424194-211424194 |
skin | malignant_melanoma | Substitution - Missense |
c.448G>A; p.D150N; 2:211788133-211788133 |
skin | malignant_melanoma | Substitution - Missense |
c.3748C>A; p.R1250R; 2:211383794-211383794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1157C>A; p.P386Q; 2:211705359-211705359 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.980C>T; p.T327I; 2:211713552-211713552 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3415C>A; p.R1139R; 2:211386919-211386919 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3481G>A; p.E1161K; 2:211386853-211386853 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2739G>A; p.L913L; 2:211424282-211424282 |
breast | carcinoma | Substitution - coding silent |
c.2759C>G; p.P920R; 2:211424262-211424262 |
breast | carcinoma | Substitution - Missense |
c.2345G>A; p.R782Q; 2:211562045-211562045 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1333C>T; p.L445L; 2:211702123-211702123 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3173C>T; p.P1058L; 2:211387955-211387955 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3857C>A; p.S1286Y; 2:211383685-211383685 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1846C>T; p.P616S; 2:211665348-211665348 |
skin | malignant_melanoma | Substitution - Missense |
c.3173C>T; p.P1058L; 2:211387955-211387955 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3699C>T; p.A1233A; 2:211383843-211383843 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.2345G>A; p.R782Q; 2:211562045-211562045 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1472G>A; p.R491K; 2:211701984-211701984 |
skin; back | malignant_melanoma | Substitution - Missense |
c.733G>A; p.D245N; 2:211725084-211725084 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3739C>A; p.L1247M; 2:211383803-211383803 |
lung | carcinoma | Substitution - Missense |
c.2608G>A; p.G870R; 2:211430980-211430980 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3442G>T; p.E1148*; 2:211386892-211386892 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1913G>A; p.W638*; 2:211657787-211657787 |
skin | malignant_melanoma | Substitution - Nonsense |
c.235-3C>T; p.?; 2:211947619-211947619 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.2571G>A; p.V857V; 2:211431017-211431017 |
skin | malignant_melanoma | Substitution - coding silent |
c.2251A>T; p.K751*; 2:211619227-211619227 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3161C>A; p.P1054H; 2:211387967-211387967 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1645G>A; p.G549S; 2:211673235-211673235 |
skin | malignant_melanoma | Substitution - Missense |
c.804C>A; p.Y268*; 2:211722472-211722472 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2935C>T; p.R979*; 2:211422036-211422036 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3298G>A; p.E1100K; 2:211387036-211387036 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1delA; p.?; 2:212538530-212538530 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2525G>A; p.R842Q; 2:211431063-211431063 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3097C>T; p.P1033S; 2:211420479-211420479 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1125-10G>T; p.?; 2:211705401-211705401 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1794G>A; p.Q598Q; 2:211665400-211665400 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.421+1G>T; p.?; 2:211947429-211947429 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1350G>T; p.L450L; 2:211702106-211702106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1delA; p.?; 2:212538530-212538530 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.241C>T; p.R81*; 2:211947610-211947610 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3060G>T; p.E1020D; 2:211420516-211420516 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1784A>G; p.D595G; 2:211665410-211665410 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.241C>T; p.R81*; 2:211947610-211947610 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3248C>T; p.A1083V; 2:211387086-211387086 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1784A>G; p.D595G; 2:211665410-211665410 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1967G>A; p.G656E; 2:211630574-211630574 |
skin | malignant_melanoma | Substitution - Missense |
c.1780C>A; p.P594T; 2:211665414-211665414 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.283C>T; p.R95C; 2:211947568-211947568 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.349T>C; p.L117L; 2:211947502-211947502 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3139G>A; p.E1047K; 2:211387989-211387989 |
skin | malignant_melanoma | Substitution - Missense |
c.1825G>A; p.D609N; 2:211665369-211665369 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.120_121insCT; p.D41fs*26; 2:212124865-212124866 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1202T>C; p.F401S; 2:211704191-211704191 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1625A>T; p.E542V; 2:211673255-211673255 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3399C>T; p.T1133T; 2:211386935-211386935 |
pancreas | carcinoma | Substitution - coding silent |
c.341G>A; p.R114Q; 2:211947510-211947510 |
skin | malignant_melanoma | Substitution - Missense |
c.341G>A; p.R114Q; 2:211947510-211947510 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.561A>C; p.G187G; 2:211750700-211750700 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3818G>A; p.R1273Q; 2:211383724-211383724 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3818G>A; p.R1273Q; 2:211383724-211383724 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.649T>C; p.C217R; 2:211725168-211725168 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.366C>A; p.N122K; 2:211947485-211947485 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3530delA; p.N1177fs*27; 2:211384012-211384012 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2965G>A; p.G989S; 2:211420611-211420611 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.795C>T; p.T265T; 2:211722481-211722481 |
skin | malignant_melanoma | Substitution - coding silent |
c.2487+5G>C; p.?; 2:211561898-211561898 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.579T>A; p.C193*; 2:211750682-211750682 |
NS | NS | Substitution - Nonsense |
c.649T>C; p.C217R; 2:211725168-211725168 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1089T>C; p.N363N; 2:211712085-211712085 |
liver | carcinoma | Substitution - coding silent |
c.1432T>G; p.F478V; 2:211702024-211702024 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3366C>G; p.D1122E; 2:211386968-211386968 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1089T>C; p.N363N; 2:211712085-211712085 |
liver | carcinoma | Substitution - coding silent |
c.2685G>A; p.R895R; 2:211428442-211428442 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3617C>T; p.P1206L; 2:211383925-211383925 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3222A>G; p.E1074E; 2:211387112-211387112 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.991C>T; p.P331S; 2:211713541-211713541 |
skin | malignant_melanoma | Substitution - Missense |
c.2321G>A; p.S774N; 2:211562069-211562069 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.340C>T; p.R114*; 2:211947511-211947511 |
skin; extremity | malignant_melanoma | Substitution - Nonsense |
c.2974C>T; p.R992C; 2:211420602-211420602 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2974C>T; p.R992C; 2:211420602-211420602 |
skin | malignant_melanoma | Substitution - Missense |
c.2974C>T; p.R992C; 2:211420602-211420602 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2924C>T; p.S975L; 2:211422047-211422047 |
skin | malignant_melanoma | Substitution - Missense |
c.2236A>T; p.I746F; 2:211619242-211619242 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2974C>T; p.R992C; 2:211420602-211420602 |
pancreas | carcinoma | Substitution - Missense |
c.2759C>A; p.P920H; 2:211424262-211424262 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.963A>C; p.K321N; 2:211713569-211713569 |
pancreas | carcinoma | Substitution - Missense |
c.2545G>A; p.V849I; 2:211431043-211431043 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.963A>C; p.K321N; 2:211713569-211713569 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1447C>G; p.Q483E; 2:211702009-211702009 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2281G>T; p.A761S; 2:211619197-211619197 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.502C>T; p.R168W; 2:211788079-211788079 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.218A>T; p.D73V; 2:212124768-212124768 |
breast | carcinoma | Substitution - Missense |
c.2747T>A; p.F916Y; 2:211424274-211424274 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.502C>T; p.R168W; 2:211788079-211788079 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1350G>A; p.L450L; 2:211702106-211702106 |
breast | carcinoma; lobular_carcinoma | Substitution - coding silent |
c.1350G>A; p.L450L; 2:211702106-211702106 |
breast | carcinoma; lobular_carcinoma | Substitution - coding silent |
c.1618G>A; p.D540N; 2:211679056-211679056 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.731C>T; p.T244I; 2:211725086-211725086 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.502C>T; p.R168W; 2:211788079-211788079 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.894G>A; p.V298V; 2:211713638-211713638 |
skin | malignant_melanoma | Substitution - coding silent |
c.3303T>A; p.I1101I; 2:211387031-211387031 |
kidney | other; neoplasm | Substitution - coding silent |
c.87T>A; p.C29*; 2:212124899-212124899 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3531T>A; p.N1177K; 2:211384011-211384011 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1924T>A; p.S642T; 2:211657776-211657776 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2639G>A; p.G880E; 2:211430949-211430949 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.632C>T; p.T211M; 2:211725185-211725185 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3031G>T; p.E1011*; 2:211420545-211420545 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2098C>T; p.P700S; 2:211624026-211624026 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.612T>C; p.H204H; 2:211750649-211750649 |
prostate | carcinoma | Substitution - coding silent |
c.2098C>T; p.P700S; 2:211624026-211624026 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.730A>G; p.T244A; 2:211725087-211725087 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.864C>T; p.F288F; 2:211722412-211722412 |
skin | malignant_melanoma | Substitution - coding silent |
c.623-1G>T; p.?; 2:211725195-211725195 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.2520T>G; p.V840V; 2:211431068-211431068 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.730A>G; p.T244A; 2:211725087-211725087 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.730A>G; p.T244A; 2:211725087-211725087 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3593C>T; p.A1198V; 2:211383949-211383949 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.316C>T; p.R106C; 2:211947535-211947535 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2079G>T; p.E693D; 2:211630462-211630462 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3498G>A; p.V1166V; 2:211384044-211384044 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1877A>C; p.N626T; 2:211657823-211657823 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.316C>T; p.R106C; 2:211947535-211947535 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3659A>C; p.E1220A; 2:211383883-211383883 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.309C>T; p.R103R; 2:211947542-211947542 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3006G>T; p.K1002N; 2:211420570-211420570 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3110C>T; p.S1037F; 2:211420466-211420466 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2624A>T; p.Y875F; 2:211430964-211430964 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1852C>T; p.H618Y; 2:211665342-211665342 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.140G>T; p.R47L; 2:212124846-212124846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.143C>A; p.A48D; 2:212124843-212124843 |
skin | malignant_melanoma | Substitution - Missense |
c.3353A>G; p.H1118R; 2:211386981-211386981 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2645T>G; p.M882R; 2:211428482-211428482 |
liver | carcinoma | Substitution - Missense |
c.3353A>G; p.H1118R; 2:211386981-211386981 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3458C>A; p.P1153H; 2:211386876-211386876 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2513G>A; p.R838Q; 2:211431075-211431075 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2513G>A; p.R838Q; 2:211431075-211431075 |
skin | malignant_melanoma | Substitution - Missense |
c.1203C>T; p.F401F; 2:211704190-211704190 |
skin | malignant_melanoma | Substitution - coding silent |
c.2251A>C; p.K751Q; 2:211619227-211619227 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2251A>C; p.K751Q; 2:211619227-211619227 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.949G>A; p.E317K; 2:211713583-211713583 |
skin | malignant_melanoma | Substitution - Missense |
c.2975G>A; p.R992H; 2:211420601-211420601 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2276C>T; p.P759L; 2:211619202-211619202 |
skin | malignant_melanoma | Substitution - Missense |
c.2529T>C; p.D843D; 2:211431059-211431059 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.60C>T; p.V20V; 2:212538471-212538471 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3749G>C; p.R1250P; 2:211383793-211383793 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2077G>A; p.E693K; 2:211630464-211630464 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1440A>T; p.T480T; 2:211702016-211702016 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1233G>A; p.M411I; 2:211704160-211704160 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.676G>A; p.V226I; 2:211725141-211725141 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1451G>A; p.R484K; 2:211702005-211702005 |
skin | malignant_melanoma | Substitution - Missense |
c.2251A>G; p.K751E; 2:211619227-211619227 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.2077G>A; p.E693K; 2:211630464-211630464 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1909C>T; p.P637S; 2:211657791-211657791 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2221G>A; p.G741R; 2:211619257-211619257 |
skin | malignant_melanoma | Substitution - Missense |
c.3627C>T; p.L1209L; 2:211383915-211383915 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3874C>T; p.P1292S; 2:211383668-211383668 |
breast | carcinoma | Substitution - Missense |
c.2809G>T; p.E937*; 2:211424212-211424212 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.916C>A; p.R306S; 2:211713616-211713616 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2648C>T; p.P883L; 2:211428479-211428479 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.701G>A; p.C234Y; 2:211725116-211725116 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.22T>C; p.W8R; 2:212538509-212538509 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1643A>C; p.N548T; 2:211673237-211673237 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.3303T>G; p.I1101M; 2:211387031-211387031 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.235-2A>T; p.?; 2:211947618-211947618 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.1590G>T; p.R530S; 2:211679084-211679084 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.883C>T; p.H295Y; 2:211722393-211722393 |
stomach | carcinoma | Substitution - Missense |
c.135G>A; p.Q45Q; 2:212124851-212124851 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.47C>T; p.A16V; 2:212538484-212538484 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1390A>G; p.S464G; 2:211702066-211702066 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.820C>T; p.Q274*; 2:211722456-211722456 |
skin | malignant_melanoma | Substitution - Nonsense |
c.820C>T; p.Q274*; 2:211722456-211722456 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1690G>A; p.D564N; 2:211673190-211673190 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3230T>A; p.V1077E; 2:211387104-211387104 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3355G>T; p.V1119F; 2:211386979-211386979 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1872G>T; p.G624G; 2:211657828-211657828 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3707C>T; p.A1236V; 2:211383835-211383835 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3707C>T; p.A1236V; 2:211383835-211383835 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1290-1G>T; p.?; 2:211702167-211702167 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.3250C>A; p.P1084T; 2:211387084-211387084 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2170C>T; p.L724F; 2:211623954-211623954 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3318C>A; p.C1106*; 2:211387016-211387016 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1952C>G; p.P651R; 2:211630589-211630589 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1430T>C; p.L477P; 2:211702026-211702026 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1022C>T; p.S341L; 2:211712152-211712152 |
skin | malignant_melanoma | Substitution - Missense |
c.3129G>A; p.S1043S; 2:211420447-211420447 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3129G>A; p.S1043S; 2:211420447-211420447 |
ovary | other; neoplasm | Substitution - coding silent |
c.1022C>T; p.S341L; 2:211712152-211712152 |
skin | malignant_melanoma | Substitution - Missense |
c.2441A>C; p.N814T; 2:211561949-211561949 |
skin | malignant_melanoma | Substitution - Missense |
c.2734G>T; p.E912*; 2:211424287-211424287 |
liver | carcinoma | Substitution - Nonsense |
c.643G>C; p.E215Q; 2:211725174-211725174 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2779C>T; p.R927*; 2:211424242-211424242 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3521G>A; p.R1174Q; 2:211384021-211384021 |
skin; face | malignant_melanoma | Substitution - Missense |
c.1624G>A; p.E542K; 2:211673256-211673256 |
skin; face | malignant_melanoma | Substitution - Missense |
c.70G>A; p.D24N; 2:212538461-212538461 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2483C>A; p.A828D; 2:211561907-211561907 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1624G>A; p.E542K; 2:211673256-211673256 |
skin | malignant_melanoma | Substitution - Missense |
c.268G>A; p.A90T; 2:211947583-211947583 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.859G>A; p.A287T; 2:211722417-211722417 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2870G>A; p.W957*; 2:211422101-211422101 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2157G>A; p.K719K; 2:211623967-211623967 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2122G>A; p.A708T; 2:211624002-211624002 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.205G>A; p.E69K; 2:212124781-212124781 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1856C>T; p.P619L; 2:211665338-211665338 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3022T>G; p.L1008V; 2:211420554-211420554 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3817C>T; p.R1273W; 2:211383725-211383725 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.696A>G; p.R232R; 2:211725121-211725121 |
skin | malignant_melanoma | Substitution - coding silent |
c.1523C>T; p.S508F; 2:211679151-211679151 |
skin | malignant_melanoma | Substitution - Missense |
c.497T>A; p.I166N; 2:211788084-211788084 |
large_intestine; colon | NS | Substitution - Missense |
c.1763A>G; p.N588S; 2:211665431-211665431 |
liver | carcinoma | Substitution - Missense |
c.3707C>A; p.A1236E; 2:211383835-211383835 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2014G>T; p.A672S; 2:211630527-211630527 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3306T>C; p.F1102F; 2:211387028-211387028 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3310G>T; p.D1104Y; 2:211387024-211387024 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2305G>T; p.A769S; 2:211562085-211562085 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3799T>C; p.F1267L; 2:211383743-211383743 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2080-2A>T; p.?; 2:211624046-211624046 |
lung | carcinoma; adenocarcinoma | Unknown |
c.67A>C; p.S23R; 2:212538464-212538464 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.67A>C; p.S23R; 2:212538464-212538464 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1870G>T; p.G624W; 2:211665324-211665324 |
skin | malignant_melanoma | Substitution - Missense |
c.67A>C; p.S23R; 2:212538464-212538464 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1926C>T; p.S642S; 2:211657774-211657774 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2798T>C; p.L933S; 2:211424223-211424223 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.883+2T>C; p.?; 2:211722391-211722391 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.1349T>C; p.L450P; 2:211702107-211702107 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1785T>C; p.D595D; 2:211665409-211665409 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1455A>T; p.I485I; 2:211702001-211702001 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1933C>A; p.P645T; 2:211657767-211657767 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1913G>T; p.W638L; 2:211657787-211657787 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.602C>A; p.T201K; 2:211750659-211750659 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1170C>T; p.N390N; 2:211705346-211705346 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1913G>T; p.W638L; 2:211657787-211657787 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1349T>C; p.L450P; 2:211702107-211702107 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.363_364insTTT; p.L121_N122insF; 2:211947487-211947488 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Insertion - In frame |
c.219C>T; p.D73D; 2:212124767-212124767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.2512C>T; p.R838*; 2:211431076-211431076 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1044G>A; p.V348V; 2:211712130-211712130 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2512C>T; p.R838*; 2:211431076-211431076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1600G>C; p.E534Q; 2:211679074-211679074 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2119C>G; p.Q707E; 2:211624005-211624005 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.337G>A; p.D113N; 2:211947514-211947514 |
skin | malignant_melanoma | Substitution - Missense |
c.1284C>T; p.L428L; 2:211704109-211704109 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.120_121insAG; p.D41fs*26; 2:212124865-212124866 |
bone; pelvis | chondrosarcoma | Insertion - Frameshift |
c.3416G>A; p.R1139Q; 2:211386918-211386918 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.3416G>A; p.R1139Q; 2:211386918-211386918 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2931G>T; p.M977I; 2:211422040-211422040 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2523T>A; p.H841Q; 2:211431065-211431065 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.829C>A; p.H277N; 2:211722447-211722447 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3693G>C; p.E1231D; 2:211383849-211383849 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3826C>G; p.P1276A; 2:211383716-211383716 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3897A>C; p.P1299P; 2:211383645-211383645 |
breast | carcinoma | Substitution - coding silent |
c.3820A>T; p.I1274F; 2:211383722-211383722 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1125G>T; p.G375G; 2:211705391-211705391 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2800G>A; p.E934K; 2:211424221-211424221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.837C>T; p.F279F; 2:211722439-211722439 |
skin | malignant_melanoma | Substitution - coding silent |
c.1603T>A; p.S535T; 2:211679071-211679071 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.352G>T; p.A118S; 2:211947499-211947499 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3187C>T; p.Q1063*; 2:211387147-211387147 |
skin | malignant_melanoma | Substitution - Nonsense |
c.790C>G; p.Q264E; 2:211722486-211722486 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2526G>T; p.R842R; 2:211431062-211431062 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.833A>G; p.N278S; 2:211722443-211722443 |
breast | carcinoma | Substitution - Missense |
c.1984T>G; p.F662V; 2:211630557-211630557 |
skin | malignant_melanoma | Substitution - Missense |
c.2121A>C; p.Q707H; 2:211624003-211624003 |
pancreas | carcinoma | Substitution - Missense |
c.3200G>A; p.R1067Q; 2:211387134-211387134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3909C>A; p.H1303Q; 2:211383633-211383633 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1258C>A; p.L420M; 2:211704135-211704135 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2131C>T; p.R711C; 2:211623993-211623993 |
skin | malignant_melanoma | Substitution - Missense |
c.2131C>T; p.R711C; 2:211623993-211623993 |
skin | malignant_melanoma | Substitution - Missense |
c.3550G>T; p.D1184Y; 2:211383992-211383992 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2131C>T; p.R711C; 2:211623993-211623993 |
breast | carcinoma | Substitution - Missense |
c.1626A>C; p.E542D; 2:211673254-211673254 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2131C>T; p.R711C; 2:211623993-211623993 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3334_3336delCGC; p.R1112delR; 2:211386998-211387000 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.2804A>T; p.K935I; 2:211424217-211424217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2780G>A; p.R927Q; 2:211424241-211424241 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2437G>A; p.D813N; 2:211561953-211561953 |
skin | malignant_melanoma | Substitution - Missense |
c.2597G>A; p.R866K; 2:211430991-211430991 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3494C>T; p.P1165L; 2:211384048-211384048 |
skin | malignant_melanoma | Substitution - Missense |
c.3847G>C; p.E1283Q; 2:211383695-211383695 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2320A>C; p.S774R; 2:211562070-211562070 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2803A>G; p.K935E; 2:211424218-211424218 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.148C>T; p.R50C; 2:212124838-212124838 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1660G>A; p.E554K; 2:211673220-211673220 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1714C>T; p.P572S; 2:211673166-211673166 |
skin | malignant_melanoma | Substitution - Missense |
c.148C>T; p.R50C; 2:212124838-212124838 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2071G>A; p.E691K; 2:211630470-211630470 |
skin | malignant_melanoma | Substitution - Missense |
c.586C>T; p.R196C; 2:211750675-211750675 |
skin | malignant_melanoma | Substitution - Missense |
c.184A>C; p.N62H; 2:212124802-212124802 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1714C>T; p.P572S; 2:211673166-211673166 |
skin | malignant_melanoma | Substitution - Missense |
c.418A>G; p.T140A; 2:211947433-211947433 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2399C>T; p.P800L; 2:211561991-211561991 |
skin | malignant_melanoma | Substitution - Missense |
c.2874G>A; p.M958I; 2:211422097-211422097 |
skin | malignant_melanoma | Substitution - Missense |
c.586C>T; p.R196C; 2:211750675-211750675 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2821C>T; p.Q941*; 2:211424200-211424200 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3128C>T; p.S1043L; 2:211420448-211420448 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.224C>T; p.S75F; 2:212124762-212124762 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1990C>T; p.L664L; 2:211630551-211630551 |
skin | malignant_melanoma | Substitution - coding silent |
c.1177C>T; p.R393W; 2:211705339-211705339 |
skin; buttock | malignant_melanoma | Substitution - Missense |
c.2821C>T; p.Q941*; 2:211424200-211424200 |
skin | malignant_melanoma | Substitution - Nonsense |
c.95C>T; p.T32M; 2:212124891-212124891 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2791G>A; p.D931N; 2:211424230-211424230 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2791G>A; p.D931N; 2:211424230-211424230 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3376C>T; p.Q1126*; 2:211386958-211386958 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1107A>C; p.L369L; 2:211712067-211712067 |
skin | malignant_melanoma | Substitution - coding silent |
c.3314C>G; p.S1105C; 2:211387020-211387020 |
thyroid | carcinoma | Substitution - Missense |
c.1659_1660GG>AA; p.E554K; 2:211673220-211673221 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2312T>C; p.I771T; 2:211562078-211562078 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3449A>G; p.Y1150C; 2:211386885-211386885 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1883C>A; p.P628H; 2:211657817-211657817 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1699C>T; p.L567F; 2:211673181-211673181 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1226C>T; p.P409L; 2:211704167-211704167 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.718G>A; p.G240R; 2:211725099-211725099 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1699C>T; p.L567F; 2:211673181-211673181 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.538A>G; p.T180A; 2:211788043-211788043 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1481A>G; p.E494G; 2:211701975-211701975 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2180G>A; p.G727D; 2:211623944-211623944 |
skin | malignant_melanoma | Substitution - Missense |
c.55A>G; p.T19A; 2:212538476-212538476 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3042A>G; p.E1014E; 2:211420534-211420534 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.55A>G; p.T19A; 2:212538476-212538476 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.55A>G; p.T19A; 2:212538476-212538476 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.55A>G; p.T19A; 2:212538476-212538476 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.55A>G; p.T19A; 2:212538476-212538476 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2412G>A; p.L804L; 2:211561978-211561978 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.55A>G; p.T19A; 2:212538476-212538476 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.55A>G; p.T19A; 2:212538476-212538476 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.621T>A; p.T207T; 2:211750640-211750640 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3749G>A; p.R1250Q; 2:211383793-211383793 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.55A>G; p.T19A; 2:212538476-212538476 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.176T>A; p.V59D; 2:212124810-212124810 |
stomach | adenocarcinoma | Substitution - Missense |
c.55A>G; p.T19A; 2:212538476-212538476 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.704C>T; p.A235V; 2:211725113-211725113 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.55A>G; p.T19A; 2:212538476-212538476 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.55A>G; p.T19A; 2:212538476-212538476 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.420A>G; p.T140T; 2:211947431-211947431 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1880G>T; p.G627V; 2:211657820-211657820 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.420A>G; p.T140T; 2:211947431-211947431 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2139G>A; p.L713L; 2:211623985-211623985 |
skin | malignant_melanoma | Substitution - coding silent |
c.420A>G; p.T140T; 2:211947431-211947431 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1003G>T; p.D335Y; 2:211712171-211712171 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.420A>G; p.T140T; 2:211947431-211947431 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.24G>A; p.W8*; 2:212538507-212538507 |
liver | carcinoma | Substitution - Nonsense |
c.3559G>A; p.E1187K; 2:211383983-211383983 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.24G>A; p.W8*; 2:212538507-212538507 |
liver | carcinoma | Substitution - Nonsense |
c.426C>T; p.I142I; 2:211788155-211788155 |
skin | malignant_melanoma | Substitution - coding silent |
c.2080T>G; p.L694V; 2:211624044-211624044 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.92G>A; p.G31E; 2:212124894-212124894 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1182A>T; p.T394T; 2:211705334-211705334 |
liver | carcinoma | Substitution - coding silent |
c.2148T>G; p.T716T; 2:211623976-211623976 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2148T>G; p.T716T; 2:211623976-211623976 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2553G>A; p.V851V; 2:211431035-211431035 |
skin | malignant_melanoma | Substitution - coding silent |
c.738C>A; p.C246*; 2:211725079-211725079 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.738C>A; p.C246*; 2:211725079-211725079 |
liver | carcinoma | Substitution - Nonsense |
c.2148T>G; p.T716T; 2:211623976-211623976 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1182A>T; p.T394T; 2:211705334-211705334 |
liver | carcinoma | Substitution - coding silent |
c.738C>A; p.C246*; 2:211725079-211725079 |
liver | carcinoma | Substitution - Nonsense |