lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	3682
Symbol	ITGAE
Synonymous	CD103\|HUMINAE
Full name	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)
Gene description	HML-1 antigen\|antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide\|integrin alpha-E\|integrin alpha-IEL\|mucosal lymphocyte 1 antigen
Cytoband	17p13
Gene type	protein-coding
Synonymous	MIM:604682; HGNC:HGNC:6147; Ensembl:ENSG00000083457; HPRD:05249; Vega:OTTHUMG00000177634

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2737G>A; p.V913I; 17:3732385-3732385	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1654C>T; p.R552C; 17:3753304-3753304	liver	carcinoma	Substitution - Missense
c.1654C>T; p.R552C; 17:3753304-3753304	liver	carcinoma	Substitution - Missense
c.21G>T; p.L7L; 17:3801124-3801124	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.574G>A; p.E192K; 17:3761037-3761037	skin	malignant_melanoma	Substitution - Missense
c.2164G>A; p.E722K; 17:3745919-3745919	prostate	carcinoma	Substitution - Missense
c.375C>A; p.T125T; 17:3761461-3761461	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2086G>A; p.G696S; 17:3747991-3747991	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2103G>A; p.V701V; 17:3747974-3747974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1432G>A; p.A478T; 17:3753878-3753878	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.978C>G; p.I326M; 17:3757748-3757748	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.921G>A; p.M307I; 17:3757805-3757805	liver	carcinoma	Substitution - Missense
c.921G>A; p.M307I; 17:3757805-3757805	liver	carcinoma	Substitution - Missense
c.226G>A; p.E76K; 17:3763890-3763890	bone; femur	chondrosarcoma	Substitution - Missense
c.1132C>A; p.L378M; 17:3757023-3757023	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.473A>T; p.D158V; 17:3761138-3761138	breast	carcinoma	Substitution - Missense
c.1857T>C; p.N619N; 17:3751686-3751686	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.128A>G; p.H43R; 17:3777567-3777567	liver	carcinoma	Substitution - Missense
c.128A>G; p.H43R; 17:3777567-3777567	liver	carcinoma	Substitution - Missense
c.1655G>A; p.R552H; 17:3753303-3753303	pancreas	NS	Substitution - Missense
c.1384G>A; p.G462S; 17:3755117-3755117	thyroid	other; neoplasm	Substitution - Missense
c.886A>C; p.S296R; 17:3757840-3757840	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1836C>T; p.F612F; 17:3751707-3751707	skin	malignant_melanoma	Substitution - coding silent
c.911C>T; p.S304F; 17:3757815-3757815	skin	malignant_melanoma	Substitution - Missense
c.624T>A; p.D208E; 17:3760262-3760262	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1083G>A; p.P361P; 17:3757072-3757072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.268G>A; p.G90R; 17:3761962-3761962	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.680A>G; p.N227S; 17:3760206-3760206	NS	NS	Substitution - Missense
c.400C>T; p.R134C; 17:3761436-3761436	skin	malignant_melanoma	Substitution - Missense
c.2619T>G; p.N873K; 17:3734853-3734853	skin	malignant_melanoma	Substitution - Missense
c.1754G>A; p.G585E; 17:3751789-3751789	skin	malignant_melanoma	Substitution - Missense
c.3461G>T; p.R1154I; 17:3714926-3714926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.652T>G; p.F218V; 17:3760234-3760234	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2023C>T; p.R675C; 17:3750353-3750353	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.75G>A; p.R25R; 17:3777620-3777620	skin	malignant_melanoma	Substitution - coding silent
c.2664T>C; p.S888S; 17:3732458-3732458	skin	malignant_melanoma	Substitution - coding silent
c.3343G>A; p.V1115I; 17:3716789-3716789	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3343G>A; p.V1115I; 17:3716789-3716789	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2110C>T; p.R704C; 17:3747967-3747967	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2110C>T; p.R704C; 17:3747967-3747967	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.125T>C; p.L42P; 17:3777570-3777570	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1919delC; p.P640fs*43; 17:3750457-3750457	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.986C>T; p.P329L; 17:3757740-3757740	skin	malignant_melanoma	Substitution - Missense
c.2142A>T; p.T714T; 17:3747935-3747935	pancreas	carcinoma	Substitution - coding silent
c.1943C>T; p.S648F; 17:3750433-3750433	skin	malignant_melanoma	Substitution - Missense
c.1943C>T; p.S648F; 17:3750433-3750433	skin	malignant_melanoma	Substitution - Missense
c.2328G>A; p.E776E; 17:3743609-3743609	skin	malignant_melanoma	Substitution - coding silent
c.1586C>T; p.T529M; 17:3753372-3753372	breast	carcinoma	Substitution - Missense
c.2895C>T; p.F965F; 17:3729495-3729495	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1589A>T; p.D530V; 17:3753369-3753369	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.700G>A; p.E234K; 17:3760186-3760186	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1429A>G; p.I477V; 17:3753881-3753881	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1429A>G; p.I477V; 17:3753881-3753881	thyroid	other; neoplasm	Substitution - Missense
c.700G>A; p.E234K; 17:3760186-3760186	skin; scalp	malignant_melanoma	Substitution - Missense
c.1429A>G; p.I477V; 17:3753881-3753881	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3202G>A; p.V1068M; 17:3723323-3723323	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2572C>T; p.L858L; 17:3734900-3734900	skin	malignant_melanoma	Substitution - coding silent
c.1396G>A; p.A466T; 17:3753914-3753914	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2735C>G; p.P912R; 17:3732387-3732387	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.477C>T; p.C159C; 17:3761134-3761134	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1122G>A; p.A374A; 17:3757033-3757033	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1135C>T; p.L379L; 17:3757020-3757020	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1587G>A; p.T529T; 17:3753371-3753371	stomach	adenocarcinoma	Substitution - coding silent
c.664A>G; p.K222E; 17:3760222-3760222	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2271C>T; p.S757S; 17:3745812-3745812	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1571A>G; p.D524G; 17:3753387-3753387	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1049C>A; p.T350N; 17:3757106-3757106	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.647C>T; p.P216L; 17:3760239-3760239	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.647C>T; p.P216L; 17:3760239-3760239	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3526G>A; p.E1176K; 17:3714861-3714861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1082C>T; p.P361L; 17:3757073-3757073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2620T>C; p.Y874H; 17:3734852-3734852	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.220C>T; p.Q74*; 17:3763896-3763896	skin	malignant_melanoma	Substitution - Nonsense
c.1700G>T; p.S567I; 17:3751843-3751843	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2029C>T; p.R677W; 17:3748048-3748048	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1425C>T; p.S475S; 17:3753885-3753885	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.644C>A; p.P215H; 17:3760242-3760242	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.472G>T; p.D158Y; 17:3761139-3761139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2363G>C; p.S788T; 17:3743574-3743574	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2797_2798CC>TT; p.P933L; 17:3731140-3731141	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2097C>T; p.G699G; 17:3747980-3747980	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.826G>A; p.G276R; 17:3759442-3759442	skin	malignant_melanoma	Substitution - Missense
c.1858G>A; p.G620R; 17:3751685-3751685	skin	malignant_melanoma	Substitution - Missense
c.401G>A; p.R134H; 17:3761435-3761435	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.401G>A; p.R134H; 17:3761435-3761435	central_nervous_system; brain	glioma	Substitution - Missense
c.1927C>T; p.Q643*; 17:3750449-3750449	skin	malignant_melanoma	Substitution - Nonsense
c.2237G>C; p.R746T; 17:3745846-3745846	urinary_tract; bladder	carcinoma	Substitution - Missense
c.77C>A; p.P26H; 17:3777618-3777618	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2508C>T; p.A836A; 17:3739819-3739819	skin	malignant_melanoma	Substitution - coding silent
c.769C>T; p.R257W; 17:3759499-3759499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.303C>A; p.H101Q; 17:3761927-3761927	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2962G>T; p.E988*; 17:3728119-3728119	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2962G>T; p.E988*; 17:3728119-3728119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.217G>T; p.V73F; 17:3763899-3763899	liver	carcinoma	Substitution - Missense
c.64G>A; p.D22N; 17:3777631-3777631	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1026A>G; p.G342G; 17:3757129-3757129	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2098G>A; p.V700I; 17:3747979-3747979	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2098G>A; p.V700I; 17:3747979-3747979	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1378T>C; p.Y460H; 17:3755123-3755123	thyroid	other; neoplasm	Substitution - Missense
c.1177G>A; p.V393I; 17:3755892-3755892	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1072G>A; p.A358T; 17:3757083-3757083	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1072G>A; p.A358T; 17:3757083-3757083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.403C>T; p.P135S; 17:3761433-3761433	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3056T>C; p.V1019A; 17:3727947-3727947	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.544A>G; p.K182E; 17:3761067-3761067	skin	malignant_melanoma	Substitution - Missense
c.2501A>T; p.Q834L; 17:3739826-3739826	skin	malignant_melanoma	Substitution - Missense
c.3056T>C; p.V1019A; 17:3727947-3727947	thyroid	other; neoplasm	Substitution - Missense
c.2329G>A; p.E777K; 17:3743608-3743608	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1745C>T; p.A582V; 17:3751798-3751798	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.495C>T; p.G165G; 17:3761116-3761116	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.2850G>A; p.R950R; 17:3729540-3729540	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2754+3G>T; p.?; 17:3732365-3732365	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3079A>G; p.T1027A; 17:3727924-3727924	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1588G>A; p.D530N; 17:3753370-3753370	skin	malignant_melanoma	Substitution - Missense
c.155+1G>A; p.?; 17:3777539-3777539	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1433C>T; p.A478V; 17:3753877-3753877	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1433C>T; p.A478V; 17:3753877-3753877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2918C>G; p.S973C; 17:3728163-3728163	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2167G>A; p.A723T; 17:3745916-3745916	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2319+10G>A; p.?; 17:3745754-3745754	pancreas	carcinoma	Unknown
c.2626A>G; p.R876G; 17:3734846-3734846	skin	malignant_melanoma	Substitution - Missense
c.2272G>A; p.G758R; 17:3745811-3745811	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3534G>A; p.E1178E; 17:3714853-3714853	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.133G>T; p.D45Y; 17:3777562-3777562	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1445G>A; p.R482Q; 17:3753865-3753865	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1445G>A; p.R482Q; 17:3753865-3753865	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1445G>A; p.R482Q; 17:3753865-3753865	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2023C>A; p.R675S; 17:3750353-3750353	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1399G>A; p.V467M; 17:3753911-3753911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.645C>T; p.P215P; 17:3760241-3760241	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2632C>T; p.L878L; 17:3734840-3734840	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2651A>T; p.Q884L; 17:3734821-3734821	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2532G>T; p.L844F; 17:3734940-3734940	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1103A>T; p.K368M; 17:3757052-3757052	skin	malignant_melanoma	Substitution - Missense
c.2265G>A; p.W755*; 17:3745818-3745818	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.546G>A; p.K182K; 17:3761065-3761065	skin	malignant_melanoma	Substitution - coding silent
c.1759C>A; p.L587I; 17:3751784-3751784	breast	carcinoma	Substitution - Missense
c.1176G>A; p.T392T; 17:3755893-3755893	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1003G>A; p.E335K; 17:3757723-3757723	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1819G>T; p.D607Y; 17:3751724-3751724	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2453C>A; p.P818H; 17:3739874-3739874	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3446G>C; p.C1149S; 17:3714941-3714941	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3247G>T; p.D1083Y; 17:3720393-3720393	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.915G>A; p.K305K; 17:3757811-3757811	skin	malignant_melanoma	Substitution - coding silent
c.770G>A; p.R257Q; 17:3759498-3759498	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.582G>C; p.E194D; 17:3761029-3761029	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.264delC; p.K89fs*7; 17:3761966-3761966	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2896G>A; p.V966I; 17:3729494-3729494	pancreas	carcinoma	Substitution - Missense
c.1495G>A; p.A499T; 17:3753815-3753815	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1425C>G; p.S475S; 17:3753885-3753885	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.108C>T; p.F36F; 17:3777587-3777587	pancreas	carcinoma	Substitution - coding silent
c.983C>T; p.S328F; 17:3757743-3757743	skin	malignant_melanoma	Substitution - Missense
c.1941G>T; p.M647I; 17:3750435-3750435	skin	malignant_melanoma	Substitution - Missense
c.884C>G; p.S295*; 17:3757842-3757842	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.434-3A>G; p.?; 17:3761180-3761180	ovary	other; neoplasm	Unknown
c.2237G>T; p.R746I; 17:3745846-3745846	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.415G>T; p.A139S; 17:3761421-3761421	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2627G>A; p.R876K; 17:3734845-3734845	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.644C>G; p.P215R; 17:3760242-3760242	NS	NS	Substitution - Missense
c.203A>G; p.H68R; 17:3763913-3763913	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.431T>A; p.L144H; 17:3761405-3761405	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2259G>A; p.R753R; 17:3745824-3745824	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2259G>A; p.R753R; 17:3745824-3745824	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.261_262CC>TT; p.P88S; 17:3761968-3761969	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1247T>C; p.V416A; 17:3755254-3755254	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3423G>A; p.V1141V; 17:3716709-3716709	breast	carcinoma	Substitution - coding silent
c.306C>T; p.H102H; 17:3761924-3761924	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2041C>T; p.R681C; 17:3748036-3748036	skin	malignant_melanoma	Substitution - Missense
c.1746G>A; p.A582A; 17:3751797-3751797	skin	malignant_melanoma	Substitution - coding silent
c.1975G>A; p.G659S; 17:3750401-3750401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.65A>G; p.D22G; 17:3777630-3777630	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2668A>G; p.N890D; 17:3732454-3732454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.960C>T; p.L320L; 17:3757766-3757766	skin	malignant_melanoma	Substitution - coding silent
c.2163C>T; p.R721R; 17:3745920-3745920	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2163C>T; p.R721R; 17:3745920-3745920	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2163C>T; p.R721R; 17:3745920-3745920	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3046C>T; p.L1016F; 17:3727957-3727957	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2458G>A; p.E820K; 17:3739869-3739869	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.280G>A; p.G94R; 17:3761950-3761950	skin	malignant_melanoma	Substitution - Missense
c.2848C>T; p.R950W; 17:3729542-3729542	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1884C>T; p.S628S; 17:3751659-3751659	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.2656-8T>G; p.?; 17:3732474-3732474	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.921G>C; p.M307I; 17:3757805-3757805	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3022T>A; p.C1008S; 17:3727981-3727981	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1765C>A; p.Q589K; 17:3751778-3751778	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1663G>A; p.E555K; 17:3753295-3753295	skin	malignant_melanoma	Substitution - Missense
c.2319+9C>T; p.?; 17:3745755-3745755	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1663G>A; p.E555K; 17:3753295-3753295	skin	malignant_melanoma	Substitution - Missense
c.2676G>C; p.Q892H; 17:3732446-3732446	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.987C>A; p.P329P; 17:3757739-3757739	skin	malignant_melanoma	Substitution - coding silent
c.3500C>T; p.A1167V; 17:3714887-3714887	skin	malignant_melanoma	Substitution - Missense
c.1765C>T; p.Q589*; 17:3751778-3751778	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1869C>T; p.D623D; 17:3751674-3751674	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3436C>A; p.L1146M; 17:3716696-3716696	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.565G>A; p.E189K; 17:3761046-3761046	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2122G>C; p.E708Q; 17:3747955-3747955	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1890G>A; p.S630S; 17:3751653-3751653	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2713A>G; p.M905V; 17:3732409-3732409	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.934G>A; p.D312N; 17:3757792-3757792	skin	malignant_melanoma	Substitution - Missense
c.2584G>A; p.G862R; 17:3734888-3734888	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1889C>T; p.S630L; 17:3751654-3751654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1889C>T; p.S630L; 17:3751654-3751654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2038G>A; p.V680I; 17:3748039-3748039	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2354T>C; p.V785A; 17:3743583-3743583	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1551G>A; p.E517E; 17:3753407-3753407	central_nervous_system; brain	glioma	Substitution - coding silent
c.1551G>A; p.E517E; 17:3753407-3753407	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1669G>A; p.D557N; 17:3751874-3751874	skin	malignant_melanoma	Substitution - Missense
c.2053T>C; p.S685P; 17:3748024-3748024	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1879G>A; p.A627T; 17:3751664-3751664	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.778C>A; p.Q260K; 17:3759490-3759490	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1424C>T; p.S475F; 17:3753886-3753886	skin	malignant_melanoma	Substitution - Missense
c.644C>T; p.P215L; 17:3760242-3760242	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.580G>A; p.E194K; 17:3761031-3761031	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2225G>T; p.C742F; 17:3745858-3745858	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.968C>T; p.T323M; 17:3757758-3757758	thyroid	other; neoplasm	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation