Entrez Gene

Basic Information
Gene ID	23135
Name	KDM6B
Synonymous	lysine (K)-specific demethylase 6B;KDM6B;lysine (K)-specific demethylase 6B
Definition	jmjC domain-containing protein 3\|jumonji domain containing 3, histone lysine demethylase\|jumonji domain-containing protein 3\|lysine demethylase 6B\|lysine-specific demethylase 6B
Position	17p13.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2069T>G; p.I690S; 17:7848357-7848357	liver	carcinoma	Substitution - Missense
c.2069T>G; p.I690S; 17:7848357-7848357	liver	carcinoma	Substitution - Missense
c.2417C>T; p.S806F; 17:7848705-7848705	skin	malignant_melanoma	Substitution - Missense
c.3542T>C; p.L1181P; 17:7849922-7849922	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2638C>G; p.R880G; 17:7848926-7848926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2222delC; p.T743fs*39; 17:7848510-7848510	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1433G>A; p.R478H; 17:7847721-7847721	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3580C>T; p.R1194W; 17:7850084-7850084	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1318C>T; p.P440S; 17:7847606-7847606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1941C>T; p.G647G; 17:7848229-7848229	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4269T>G; p.A1423A; 17:7852054-7852054	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.380C>T; p.T127I; 17:7846221-7846221	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.686G>A; p.R229Q; 17:7846715-7846715	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1974_1975insG; p.V660fs*13; 17:7848262-7848263	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2194C>G; p.L732V; 17:7848482-7848482	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4031T>C; p.L1344P; 17:7851662-7851662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.789A>C; p.P263P; 17:7846896-7846896	breast	carcinoma	Substitution - coding silent
c.2483G>A; p.R828Q; 17:7848771-7848771	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4695C>A; p.G1565G; 17:7853084-7853084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1297T>C; p.S433P; 17:7847585-7847585	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1688G>A; p.S563N; 17:7847976-7847976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.803T>A; p.L268Q; 17:7846910-7846910	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.797C>A; p.P266H; 17:7846904-7846904	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.577G>A; p.G193R; 17:7846606-7846606	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3828C>T; p.T1276T; 17:7851175-7851175	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2150C>T; p.A717V; 17:7848438-7848438	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4078G>T; p.G1360C; 17:7851709-7851709	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1782C>A; p.P594P; 17:7848070-7848070	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4446C>T; p.A1482A; 17:7852314-7852314	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3761A>G; p.D1254G; 17:7851108-7851108	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3309G>C; p.L1103L; 17:7849597-7849597	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1287G>A; p.A429A; 17:7847575-7847575	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2154C>T; p.G718G; 17:7848442-7848442	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2599T>G; p.S867A; 17:7848887-7848887	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2154C>T; p.G718G; 17:7848442-7848442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.113G>A; p.R38H; 17:7845667-7845667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.275C>G; p.S92C; 17:7846116-7846116	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1417T>C; p.C473R; 17:7847705-7847705	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.539T>C; p.L180P; 17:7846482-7846482	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1018C>T; p.R340C; 17:7847213-7847213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3626G>A; p.R1209Q; 17:7850130-7850130	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2951G>A; p.R984Q; 17:7849239-7849239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.496C>T; p.R166*; 17:7846439-7846439	pancreas	carcinoma	Substitution - Nonsense
c.549+2T>C; p.?; 17:7846494-7846494	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2287G>A; p.A763T; 17:7848575-7848575	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.161C>A; p.P54H; 17:7845895-7845895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4301C>T; p.T1434M; 17:7852169-7852169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1432_1433insA; p.R478fs*32; 17:7847720-7847721	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2222C>G; p.A741G; 17:7848510-7848510	oesophagus	carcinoma	Substitution - Missense
c.2703_2705delCCT; p.L902delL; 17:7848991-7848993	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.4734C>T; p.C1578C; 17:7853123-7853123	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.40C>T; p.R14W; 17:7845594-7845594	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2546C>T; p.P849L; 17:7848834-7848834	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4716C>A; p.A1572A; 17:7853105-7853105	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3498G>A; p.V1166V; 17:7849878-7849878	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3737G>A; p.R1246H; 17:7851084-7851084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1423C>T; p.R475C; 17:7847711-7847711	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.553A>G; p.K185E; 17:7846582-7846582	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4384G>A; p.V1462M; 17:7852252-7852252	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.74C>T; p.A25V; 17:7845628-7845628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4318A>G; p.I1440V; 17:7852186-7852186	skin	malignant_melanoma	Substitution - Missense
c.2569G>A; p.A857T; 17:7848857-7848857	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3299C>A; p.P1100H; 17:7849587-7849587	central_nervous_system; brain	glioma	Substitution - Missense
c.4334A>G; p.Y1445C; 17:7852202-7852202	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4334A>G; p.Y1445C; 17:7852202-7852202	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3447C>T; p.A1149A; 17:7849827-7849827	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3276G>T; p.L1092L; 17:7849564-7849564	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.416G>A; p.S139N; 17:7846257-7846257	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3276G>T; p.L1092L; 17:7849564-7849564	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1231C>T; p.R411W; 17:7847426-7847426	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1231C>T; p.R411W; 17:7847426-7847426	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2769C>T; p.T923T; 17:7849057-7849057	skin	malignant_melanoma	Substitution - coding silent
c.2600C>T; p.S867L; 17:7848888-7848888	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2600C>T; p.S867L; 17:7848888-7848888	skin	malignant_melanoma	Substitution - Missense
c.1063delC; p.G357fs*130; 17:7847258-7847258	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3295delC; p.K1101fs*3; 17:7849583-7849583	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3520G>C; p.E1174Q; 17:7849900-7849900	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.752T>C; p.L251S; 17:7846859-7846859	liver	carcinoma	Substitution - Missense
c.4533C>T; p.I1511I; 17:7852559-7852559	skin	malignant_melanoma	Substitution - coding silent
c.917G>A; p.R306Q; 17:7847112-7847112	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4897G>A; p.A1633T; 17:7853369-7853369	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4044G>A; p.L1348L; 17:7851675-7851675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4044G>A; p.L1348L; 17:7851675-7851675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4044G>A; p.L1348L; 17:7851675-7851675	thyroid	other; neoplasm	Substitution - coding silent
c.3078G>A; p.E1026E; 17:7849366-7849366	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3021_3026delCAAGGT; p.K1008_V1009delKV; 17:7849309-7849314	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.3507G>T; p.K1169N; 17:7849887-7849887	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4432T>G; p.C1478G; 17:7852300-7852300	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4432T>G; p.C1478G; 17:7852300-7852300	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Substitution - Missense
c.4599C>T; p.F1533F; 17:7852625-7852625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4432T>G; p.C1478G; 17:7852300-7852300	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; mast_cell_neoplasm	Substitution - Missense
c.304C>T; p.R102W; 17:7846145-7846145	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4432T>G; p.C1478G; 17:7852300-7852300	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2921G>A; p.R974Q; 17:7849209-7849209	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1434delC; p.P480fs*7; 17:7847722-7847722	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2145C>T; p.H715H; 17:7848433-7848433	thyroid	other; neoplasm	Substitution - coding silent
c.2145C>T; p.H715H; 17:7848433-7848433	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2426_2427CC>TT; p.S809F; 17:7848714-7848715	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2253_2255delCAC; p.T762delT; 17:7848541-7848543	breast	carcinoma	Deletion - In frame
c.4707C>T; p.D1569D; 17:7853096-7853096	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4582A>G; p.S1528G; 17:7852608-7852608	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2253_2255delCAC; p.T762delT; 17:7848541-7848543	skin	malignant_melanoma	Deletion - In frame
c.486C>T; p.S162S; 17:7846429-7846429	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2881G>A; p.E961K; 17:7849169-7849169	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4186T>G; p.F1396V; 17:7851971-7851971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.712A>G; p.T238A; 17:7846819-7846819	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2980G>A; p.V994M; 17:7849268-7849268	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4696C>A; p.R1566S; 17:7853085-7853085	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2251G>A; p.V751I; 17:7848539-7848539	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1921_1922GG>AA; p.G641K; 17:7848209-7848210	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.899C>T; p.P300L; 17:7847006-7847006	breast	carcinoma	Substitution - Missense
c.1592C>G; p.S531C; 17:7847880-7847880	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.46delG; p.A16fs*7; 17:7845600-7845600	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.752_753insACC; p.P264_L265insP; 17:7846859-7846860	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.3999C>A; p.D1333E; 17:7851532-7851532	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3309G>A; p.L1103L; 17:7849597-7849597	breast	carcinoma	Substitution - coding silent
c.3787C>T; p.R1263W; 17:7851134-7851134	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3787C>T; p.R1263W; 17:7851134-7851134	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2776G>A; p.E926K; 17:7849064-7849064	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4819C>T; p.R1607W; 17:7853291-7853291	skin; trunk	malignant_melanoma	Substitution - Missense
c.2239C>G; p.P747A; 17:7848527-7848527	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1603G>A; p.V535M; 17:7847891-7847891	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2651C>T; p.A884V; 17:7848939-7848939	thyroid	carcinoma	Substitution - Missense
c.4370G>A; p.R1457Q; 17:7852238-7852238	skin	malignant_melanoma	Substitution - Missense
c.1245G>A; p.P415P; 17:7847440-7847440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4522G>A; p.V1508I; 17:7852548-7852548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>A; p.P658T; 17:7848260-7848260	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.177C>T; p.P59P; 17:7845911-7845911	thyroid	other; neoplasm	Substitution - coding silent
c.3666G>A; p.L1222L; 17:7850170-7850170	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4669G>A; p.A1557T; 17:7853058-7853058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4858G>T; p.E1620*; 17:7853330-7853330	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2513C>T; p.S838F; 17:7848801-7848801	skin	malignant_melanoma	Substitution - Missense
c.3503C>A; p.P1168Q; 17:7849883-7849883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2513C>T; p.S838F; 17:7848801-7848801	skin	malignant_melanoma	Substitution - Missense
c.1033G>A; p.E345K; 17:7847228-7847228	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1033G>A; p.E345K; 17:7847228-7847228	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1033G>A; p.E345K; 17:7847228-7847228	large_intestine; colon	carcinoma	Substitution - Missense
c.1033G>A; p.E345K; 17:7847228-7847228	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.704C>G; p.S235C; 17:7846733-7846733	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2446T>G; p.Y816D; 17:7848734-7848734	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2446T>G; p.Y816D; 17:7848734-7848734	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2446T>G; p.Y816D; 17:7848734-7848734	large_intestine; colon	carcinoma	Substitution - Missense
c.1410A>C; p.P470P; 17:7847698-7847698	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.989T>G; p.V330G; 17:7847184-7847184	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4667G>A; p.R1556Q; 17:7853056-7853056	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3466C>T; p.R1156*; 17:7849846-7849846	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.3424G>A; p.V1142I; 17:7849712-7849712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4055C>T; p.A1352V; 17:7851686-7851686	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.807T>C; p.A269A; 17:7846914-7846914	thyroid	other; neoplasm	Substitution - coding silent
c.807T>C; p.A269A; 17:7846914-7846914	thyroid	other; neoplasm	Substitution - coding silent
c.339T>C; p.L113L; 17:7846180-7846180	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.807T>C; p.A269A; 17:7846914-7846914	thyroid	other; neoplasm	Substitution - coding silent
c.807T>C; p.A269A; 17:7846914-7846914	thyroid	other; neoplasm	Substitution - coding silent
c.3466C>T; p.R1156*; 17:7849846-7849846	skin	malignant_melanoma	Substitution - Nonsense
c.2601G>A; p.S867S; 17:7848889-7848889	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2253_2258delCACCAC; p.T761_T762delTT; 17:7848541-7848546	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2253_2258delCACCAC; p.T761_T762delTT; 17:7848541-7848546	oesophagus	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.3409C>A; p.H1137N; 17:7849697-7849697	skin; leg	malignant_melanoma	Substitution - Missense
c.2253_2258delCACCAC; p.T761_T762delTT; 17:7848541-7848546	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2253_2258delCACCAC; p.T761_T762delTT; 17:7848541-7848546	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.3409C>A; p.H1137N; 17:7849697-7849697	skin; leg	malignant_melanoma	Substitution - Missense
c.2253_2258delCACCAC; p.T761_T762delTT; 17:7848541-7848546	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2253_2258delCACCAC; p.T761_T762delTT; 17:7848541-7848546	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.2253_2258delCACCAC; p.T761_T762delTT; 17:7848541-7848546	prostate	carcinoma; adenocarcinoma	Deletion - In frame
c.3861C>T; p.S1287S; 17:7851208-7851208	skin	malignant_melanoma	Substitution - coding silent
c.1942C>T; p.P648S; 17:7848230-7848230	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.644C>T; p.S215L; 17:7846673-7846673	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1587G>A; p.P529P; 17:7847875-7847875	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4548C>T; p.H1516H; 17:7852574-7852574	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3652C>A; p.L1218M; 17:7850156-7850156	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3149C>T; p.P1050L; 17:7849437-7849437	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3149C>T; p.P1050L; 17:7849437-7849437	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.312A>G; p.P104P; 17:7846153-7846153	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2412C>G; p.L804L; 17:7848700-7848700	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4697G>A; p.R1566H; 17:7853086-7853086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4697G>A; p.R1566H; 17:7853086-7853086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2167delC; p.P724fs*2; 17:7848455-7848455	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2059G>A; p.E687K; 17:7848347-7848347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2016delT; p.T676fs*24; 17:7848304-7848304	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.181C>T; p.P61S; 17:7845915-7845915	thyroid	other; neoplasm	Substitution - Missense
c.437G>A; p.R146H; 17:7846278-7846278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4521C>T; p.N1507N; 17:7852547-7852547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.437G>A; p.R146H; 17:7846278-7846278	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.397G>A; p.A133T; 17:7846238-7846238	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.985C>T; p.L329L; 17:7847180-7847180	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3727G>A; p.V1243M; 17:7851074-7851074	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3195G>A; p.P1065P; 17:7849483-7849483	pancreas	NS	Substitution - coding silent
c.881G>A; p.R294H; 17:7846988-7846988	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3245C>T; p.P1082L; 17:7849533-7849533	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1265C>T; p.A422V; 17:7847553-7847553	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2920C>T; p.R974W; 17:7849208-7849208	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2982G>C; p.V994V; 17:7849270-7849270	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.410G>C; p.G137A; 17:7846251-7846251	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3104G>T; p.R1035L; 17:7849392-7849392	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3294G>C; p.G1098G; 17:7849582-7849582	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1955delC; p.Q654fs*46; 17:7848243-7848243	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1955delC; p.Q654fs*46; 17:7848243-7848243	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3546delC; p.P1184fs*31; 17:7849926-7849926	skin	malignant_melanoma	Deletion - Frameshift
c.355T>C; p.S119P; 17:7846196-7846196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3337G>A; p.G1113S; 17:7849625-7849625	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1336C>T; p.R446W; 17:7847624-7847624	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1624_1625insC; p.P544fs*11; 17:7847912-7847913	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2547G>A; p.P849P; 17:7848835-7848835	pancreas	carcinoma	Substitution - coding silent
c.2547G>A; p.P849P; 17:7848835-7848835	pancreas	carcinoma	Substitution - coding silent
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2520delC; p.P842fs*52; 17:7848808-7848808	thyroid	carcinoma; anaplastic_carcinoma	Deletion - Frameshift
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.96G>A; p.P32P; 17:7845650-7845650	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2020delC; p.T676fs*24; 17:7848308-7848308	NS	malignant_melanoma	Deletion - Frameshift
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.761_762insACCACC; p.P264_L265insPP; 17:7846868-7846869	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.1065_1066CC>TT; p.P356S; 17:7847260-7847261	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4174G>T; p.E1392*; 17:7851959-7851959	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Nonsense
c.1531delC; p.R513fs*69; 17:7847819-7847819	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1531delC; p.R513fs*69; 17:7847819-7847819	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1193C>G; p.T398S; 17:7847388-7847388	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2635G>T; p.A879S; 17:7848923-7848923	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3626G>T; p.R1209L; 17:7850130-7850130	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2635G>T; p.A879S; 17:7848923-7848923	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2635G>T; p.A879S; 17:7848923-7848923	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2635G>T; p.A879S; 17:7848923-7848923	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2635G>T; p.A879S; 17:7848923-7848923	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2635G>T; p.A879S; 17:7848923-7848923	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2635G>T; p.A879S; 17:7848923-7848923	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2950C>T; p.R984W; 17:7849238-7849238	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2635G>T; p.A879S; 17:7848923-7848923	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.112C>T; p.R38C; 17:7845666-7845666	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.751T>C; p.L251L; 17:7846858-7846858	liver	carcinoma	Substitution - coding silent
c.2559G>A; p.A853A; 17:7848847-7848847	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3718G>A; p.E1240K; 17:7851065-7851065	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2598C>T; p.S866S; 17:7848886-7848886	skin	malignant_melanoma	Substitution - coding silent
c.1444C>T; p.P482S; 17:7847732-7847732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2172G>A; p.P724P; 17:7848460-7848460	thyroid	other; neoplasm	Substitution - coding silent
c.2172G>A; p.P724P; 17:7848460-7848460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.723C>T; p.P241P; 17:7846830-7846830	liver	carcinoma	Substitution - coding silent
c.1259C>A; p.P420H; 17:7847547-7847547	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.723C>T; p.P241P; 17:7846830-7846830	liver	carcinoma	Substitution - coding silent
c.2172G>A; p.P724P; 17:7848460-7848460	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.753_761delACCACCACC; p.P262_P264delPPP; 17:7846860-7846868	breast	carcinoma	Deletion - In frame
c.752_753insACCACC; p.P264_L265insPP; 17:7846859-7846860	endometrium	carcinoma; endometrioid_carcinoma	Insertion - In frame
c.753_761delACCACCACC; p.P262_P264delPPP; 17:7846860-7846868	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.753_761delACCACCACC; p.P262_P264delPPP; 17:7846860-7846868	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.752_753insACCACC; p.P264_L265insPP; 17:7846859-7846860	liver	carcinoma	Insertion - In frame
c.752_753insACCACC; p.P264_L265insPP; 17:7846859-7846860	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.753_761delACCACCACC; p.P262_P264delPPP; 17:7846860-7846868	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.643T>G; p.S215A; 17:7846672-7846672	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.643T>G; p.S215A; 17:7846672-7846672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2010C>G; p.L670L; 17:7848298-7848298	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.650C>T; p.P217L; 17:7846679-7846679	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4036G>A; p.E1346K; 17:7851667-7851667	breast	carcinoma	Substitution - Missense
c.1077C>T; p.D359D; 17:7847272-7847272	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2068A>T; p.I690F; 17:7848356-7848356	liver	carcinoma	Substitution - Missense
c.2068A>T; p.I690F; 17:7848356-7848356	liver	carcinoma	Substitution - Missense
c.3190delC; p.P1065fs*26; 17:7849478-7849478	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3092G>A; p.R1031H; 17:7849380-7849380	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2684C>A; p.P895H; 17:7848972-7848972	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1756C>T; p.R586W; 17:7848044-7848044	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3530C>T; p.P1177L; 17:7849910-7849910	skin; trunk	malignant_melanoma	Substitution - Missense
c.1383G>A; p.L461L; 17:7847671-7847671	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2170C>A; p.P724T; 17:7848458-7848458	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1196G>C; p.S399T; 17:7847391-7847391	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1196G>C; p.S399T; 17:7847391-7847391	thyroid	carcinoma	Substitution - Missense
c.4729G>A; p.E1577K; 17:7853118-7853118	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1408C>G; p.P470A; 17:7847696-7847696	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4230G>C; p.W1410C; 17:7852015-7852015	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.117C>T; p.S39S; 17:7845671-7845671	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.117C>T; p.S39S; 17:7845671-7845671	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - coding silent
c.978C>T; p.G326G; 17:7847173-7847173	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.673C>T; p.P225S; 17:7846702-7846702	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4383C>T; p.L1461L; 17:7852251-7852251	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4383C>T; p.L1461L; 17:7852251-7852251	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]