Entrez Gene

Basic Information
Gene ID	3394
Name	IRF8

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.730C>A; p.P244T; 16:85918545-85918545	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1206C>G; p.V402V; 16:85921207-85921207	breast	carcinoma	Substitution - coding silent
c.540G>A; p.Q180Q; 16:85913223-85913223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1042C>T; p.L348L; 16:85920162-85920162	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.233G>A; p.W78*; 16:85909048-85909048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.774C>T; p.I258I; 16:85918589-85918589	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.590C>A; p.A197E; 16:85914509-85914509	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.712G>A; p.G238S; 16:85918527-85918527	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.889G>A; p.V297M; 16:85918704-85918704	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.886C>T; p.R296C; 16:85918701-85918701	skin	malignant_melanoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.96G>T; p.E32D; 16:85903111-85903111	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>C; p.E74D; 16:85909037-85909037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.28C>A; p.L10I; 16:85903043-85903043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.11G>A; p.R4Q; 16:85903026-85903026	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.650G>A; p.G217D; 16:85918465-85918465	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.81T>C; p.I27I; 16:85903096-85903096	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.504_505CT>TA; p.C169S; 16:85913187-85913188	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.966C>T; p.F322F; 16:85918781-85918781	breast	carcinoma	Substitution - coding silent
c.1082G>A; p.R361H; 16:85920202-85920202	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.67T>C; p.Y23H; 16:85903082-85903082	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.67T>C; p.Y23H; 16:85903082-85903082	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1162G>T; p.G388C; 16:85921163-85921163	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.73_74GG>TT; p.G25L; 16:85903088-85903089	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.403G>A; p.E135K; 16:85911614-85911614	skin	malignant_melanoma	Substitution - Missense
c.1019G>A; p.R340Q; 16:85920139-85920139	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.163T>G; p.S55A; 16:85903178-85903178	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1280A>T; p.*427L; 16:85921281-85921281	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Nonstop extension
c.882G>C; p.Q294H; 16:85918697-85918697	pancreas	carcinoma	Substitution - Missense
c.1064C>T; p.P355L; 16:85920184-85920184	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.319T>A; p.Y107N; 16:85909134-85909134	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.213C>A; p.D71E; 16:85909028-85909028	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.511A>T; p.S171C; 16:85913194-85913194	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.917G>A; p.C306Y; 16:85918732-85918732	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.759G>A; p.P253P; 16:85918574-85918574	central_nervous_system; brain	glioma	Substitution - coding silent
c.242G>A; p.R81K; 16:85909057-85909057	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.419G>T; p.R140L; 16:85911630-85911630	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.754T>C; p.F252L; 16:85918569-85918569	breast	carcinoma	Substitution - Missense
c.591G>A; p.A197A; 16:85914510-85914510	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.41T>C; p.L14P; 16:85903056-85903056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.736G>A; p.G246S; 16:85918551-85918551	skin	malignant_melanoma	Substitution - Missense
c.1275C>T; p.T425T; 16:85921276-85921276	thyroid	other; neoplasm	Substitution - coding silent
c.33A>C; p.R11R; 16:85903048-85903048	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.900C>T; p.S300S; 16:85918715-85918715	pancreas	carcinoma	Substitution - coding silent
c.261T>G; p.N87K; 16:85909076-85909076	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.164C>A; p.S55Y; 16:85903179-85903179	breast	carcinoma	Substitution - Missense
c.781G>A; p.E261K; 16:85918596-85918596	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.31C>T; p.R11*; 16:85903046-85903046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.31C>T; p.R11*; 16:85903046-85903046	breast	carcinoma	Substitution - Nonsense
c.375A>T; p.A125A; 16:85911586-85911586	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.559C>T; p.P187S; 16:85914478-85914478	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.387C>T; p.C129C; 16:85911598-85911598	thyroid	other; neoplasm	Substitution - coding silent
c.864C>T; p.F288F; 16:85918679-85918679	skin	malignant_melanoma	Substitution - coding silent
c.1247C>T; p.S416L; 16:85921248-85921248	skin	malignant_melanoma	Substitution - Missense
c.520C>T; p.L174F; 16:85913203-85913203	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.922G>A; p.G308S; 16:85918737-85918737	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.570G>A; p.T190T; 16:85914489-85914489	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.491C>T; p.S164F; 16:85913174-85913174	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.325G>A; p.V109I; 16:85909140-85909140	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.250T>C; p.C84R; 16:85909065-85909065	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1018C>T; p.R340W; 16:85920138-85920138	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.346G>A; p.E116K; 16:85909161-85909161	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.664A>C; p.T222P; 16:85918479-85918479	bone; scapula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.589G>A; p.A197T; 16:85914508-85914508	breast	carcinoma	Substitution - Missense
c.589G>A; p.A197T; 16:85914508-85914508	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.897C>T; p.C299C; 16:85918712-85918712	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1236A>G; p.S412S; 16:85921237-85921237	thyroid	other; neoplasm	Substitution - coding silent
c.340C>T; p.P114S; 16:85909155-85909155	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.289G>A; p.D97N; 16:85909104-85909104	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.756C>T; p.F252F; 16:85918571-85918571	skin	malignant_melanoma	Substitution - coding silent
c.1259_1265delAAAACCA; p.E420fs*>5; 16:85921260-85921266	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.443A>G; p.K148R; 16:85911654-85911654	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1271T>C; p.I424T; 16:85921272-85921272	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.126C>T; p.H42H; 16:85903141-85903141	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.865G>A; p.V289I; 16:85918680-85918680	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.231T>G; p.T77T; 16:85909046-85909046	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.466A>G; p.M156V; 16:85913149-85913149	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.175-1G>A; p.?; 16:85908989-85908989	skin	malignant_melanoma	Unknown
c.134A>G; p.K45R; 16:85903149-85903149	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1219C>T; p.P407S; 16:85921220-85921220	skin	malignant_melanoma	Substitution - Missense
c.291C>G; p.D97E; 16:85909106-85909106	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.42G>T; p.L14L; 16:85903057-85903057	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.561G>A; p.P187P; 16:85914480-85914480	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.561G>A; p.P187P; 16:85914480-85914480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.193G>A; p.G65R; 16:85909008-85909008	NS	malignant_melanoma	Substitution - Missense
c.193G>A; p.G65R; 16:85909008-85909008	NS	malignant_melanoma	Substitution - Missense
c.1201C>T; p.Q401*; 16:85921202-85921202	skin	malignant_melanoma	Substitution - Nonsense
c.803G>A; p.R268Q; 16:85918618-85918618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.588C>T; p.D196D; 16:85914507-85914507	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.588C>T; p.D196D; 16:85914507-85914507	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.906C>T; p.N302N; 16:85918721-85918721	central_nervous_system; brain	glioma	Substitution - coding silent
c.332G>A; p.R111Q; 16:85909147-85909147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.791G>T; p.R264M; 16:85918606-85918606	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.195G>A; p.G65G; 16:85909010-85909010	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1069A>G; p.M357V; 16:85920189-85920189	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.711C>G; p.P237P; 16:85918526-85918526	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.813C>T; p.F271F; 16:85918628-85918628	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.238A>G; p.T80A; 16:85909053-85909053	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1254C>T; p.F418F; 16:85921255-85921255	skin	malignant_melanoma	Substitution - coding silent
c.828C>T; p.R276R; 16:85918643-85918643	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.828C>T; p.R276R; 16:85918643-85918643	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.850C>T; p.R284W; 16:85918665-85918665	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.850C>T; p.R284W; 16:85918665-85918665	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.109C>T; p.R37W; 16:85903124-85903124	skin	malignant_melanoma	Substitution - Missense
c.109C>T; p.R37W; 16:85903124-85903124	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.287C>T; p.T96M; 16:85909102-85909102	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.429C>T; p.I143I; 16:85911640-85911640	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.826C>A; p.R276S; 16:85918641-85918641	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1174C>T; p.Q392*; 16:85921175-85921175	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.1063C>T; p.P355S; 16:85920183-85920183	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.335T>G; p.I112S; 16:85909150-85909150	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1210C>T; p.R404W; 16:85921211-85921211	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1210C>T; p.R404W; 16:85921211-85921211	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1210C>T; p.R404W; 16:85921211-85921211	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1276_1279delGTCT; p.V426fs?; 16:85921277-85921280	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.545C>A; p.P182H; 16:85913228-85913228	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.545C>A; p.P182H; 16:85913228-85913228	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.744G>A; p.E248E; 16:85918559-85918559	skin	malignant_melanoma	Substitution - coding silent
c.101G>C; p.S34T; 16:85903116-85903116	haematopoietic_and_lymphoid_tissue; tonsil	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.457G>A; p.D153N; 16:85913140-85913140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.239C>T; p.T80M; 16:85909054-85909054	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.193G>T; p.G65W; 16:85909008-85909008	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.259A>T; p.N87Y; 16:85909074-85909074	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.259A>T; p.N87Y; 16:85909074-85909074	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.22C>A; p.R8R; 16:85903037-85903037	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.544C>T; p.P182S; 16:85913227-85913227	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.78G>A; p.L26L; 16:85903093-85903093	skin	malignant_melanoma	Substitution - coding silent
c.23G>A; p.R8Q; 16:85903038-85903038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database